004 Rh Blood Group
The Rh blood group system consists of 54 antigens carried on two proteins (RhD and RhCE) each consisting of 417 amino acids. Combinations (hybrids) between the two genes are not uncommon. The proteins consist of 12 membrane-spanning domains.
Antigens
[1] D
[2] C
[3] E
[4] c
[5] e
[6] f
[7] Ce
[8] Cw
[9] Cx
[10] V
[11] Ew
[12] G
[13] …
[14] …
[15] …
[16] …
[17] Hro
[18] Hr
[19] hrS
[20] VS
[21] CG
[22] CE
[23] Dw
[24] …
[25] …
[26] c-like
[27] cE
[28] hrH
[29] Rh29
[30] Goa
[31] hrB
[32] Rh32
[33] Rh33
[34] HrB
[35] Rh35
[36] Bea
[37] Evans
[38] …
[39] Rh39
[40] Tar
[41] Rh41
[42] Rh42
[43] Crawford
[44] Nou
[45] Riv
[46] Sec
[47] Dav
[48] JAL
[49] STEM
[50] FPTT
[51] MAR
[52] BARC
[53] JAHK
[54] DAK
[55] LOCR
[56] CENR
[57] CEST
[58] CELO
[59] CEAG
[60] PARG
[61] CEVF
[62] CEWA
Reference Info
Loading Data ... |
allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
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0:Antigen Alleles | D RH:1 | RHD*01 | ||||||||
3:Null Alleles | Del | RHD*01EL.01 RHD*DEL1 | c.1227G>A | Exon 9 | p.Lys409Lys | chr1:25321962 | ||||
1:Weak Alleles | Type 1 | RHD*01W.1 RHD*weak D type 1 | c.809T>G | Exon 6 | p.Val270Gly | chr1:25303329 | ||||
4:Null Alleles | D- | RHD*01N.01 | RHD deletion | p.0 | ||||||
0:Antigen Alleles | Normal D antigen | RHD*01.01 | c.48G>C | Exon 1 | p.Trp16Cys | chr1:25272595 | ||||
1:Weak Alleles | Type 1.1 | RHD*01W.1.1 RHD*weak D type 1.1 |
c.52C>G c.809T>G |
Exon 1
Exon 6 |
p.Leu18Val p.Val270Gly |
chr1:25272599 chr1:25303329 |
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1:Weak Alleles | Type1.2 | RHD*01W.1.2 RHD*weak D type 1.2 |
c.712G>A c.809T>G |
Exon 5
Exon 6 |
p.Val238Met p.Val270Gly |
chr1:25301597 chr1:25303329 |
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1:Weak Alleles | Type 2 | RHD*01W.2 RHD*weak D type 2 | c.1154G>C | Exon 9 | p.Gly385Ala | chr1:25321889 | ||||
0:Antigen Alleles | DII | RHD*02 RHD*DII | c.1061C>A | Exon 7 | p.Ala354Asp | chr1:25306717 | ||||
3:Null Alleles | Del | RHD*01EL.02 RHD*DEL2 | c.3G>A | Exon 1 | p.Met1Ile | chr1:25272550 |
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4:Null Alleles | D- | RHD*01N.02 | CE exons 1-9 | Hybrid | ||||||
1:Weak Alleles | Type 2.1 | RHD*01W.2.1 RHD*weak D type 2.1 |
c.301T>A c.1154G>C |
Exon 2
Exon 9 |
p.Phe101Ile p.Gly385Ala |
chr1:25284725 chr1:25321889 |
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1:Weak Alleles | Type2.2 | RHD*01W.2.2 RHD*weak D type 2.2 |
c.916G>A c.932A>G c.1154G>C |
Exon 6
Exon 6 Exon 9 |
p.Val306Ile p.Tyr311Cys p.Gly385Ala |
chr1:25303436 chr1:25303452 chr1:25321889 |
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3:Null Alleles | Del | RHD*01EL.03 RHD*DEL3 | c.53T>C | Exon 1 | p.Leu18Pro | chr1:25272600 |
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1:Weak Alleles | Type 3 | RHD*01W.3 RHD*weak D type 3 | c.8C>G | Exon 1 | p.Ser3Cys | chr1:25272555 | ||||
4:Null Alleles | D- | RHD*01N.03 | CE exons 2-9 | Hybrid | ||||||
4:Null Alleles | D- C+ | RHD*03N.01 | c.186G>T c.410C>T c.455A>C CE exons 4-7 with 733C>G 1006G>T | Exon 2 |
p.Leu62Phe p. Ala137Val p. Asn152Thr hybrid with p.Leu245Val p.Gly336Cys |
chr1:25284610 |
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0:Antigen Alleles | DIIIa RH:54 (DAK+) | RHD*03.01 RHD*DIIIa |
c.186G>T c.410C>T c.455A>C c.602C>G c.667T>G c.819G>A |
Exon 2
Exon 3 Exon 3 Exon 4 Exon 5 Exon 6 |
p.Leu62Phe p.Ala137Val p.Asn152Thr p.Thr201Arg p.Phe223Val silent |
chr1:25284610 chr1:25290715 chr1:25290760 chr1:25301061 chr1:25301552 chr1:25303339 |
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0:Antigen Alleles | DIIIb Caucasian RH:54 (DAK+) RH:─12 (G─) | RHD*03.02 RHD*DIIIb |
c.150T>C c.178A>C c.201G>A c.203G>A c.307T>C |
Exon 2
Exon 2 Exon 2 Exon 2 Exon 2 |
silent p.Ile60Leu silent p.Ser68Asn p.Ser103Pro |
chr1:25284574 chr1:25284602 chr1:25284625 chr1:25284627 chr1:25284731 |
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0:Antigen Alleles | DIIIc | RHD*03.03 RHD*DIIIc |
c.361T>A c.380T>C c.383A>G c.455A>C |
Exon 3
Exon 3 Exon 3 Exon 3 |
p.Leu121Met p.Val127Ala p.Asp128Gly p.Asn152Thr |
chr1:25290666 chr1:25290685 chr1:25290688 chr1:25290760 |
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0:Antigen Alleles | DIII type 4 | RHD*03.04 RHD*DIII.04 |
c.186G>T c.410C>T c.455A>C |
Exon 2
Exon 3 Exon 3 |
p.Leu62Phe p.Ala137Val p.Asn152Thr |
chr1:25284610 chr1:25290715 chr1:25290760 |
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0:Antigen Alleles | Not tested | RHD*03.04.02 RHD*DIII.04.02 |
c.186G>T c.307T>C c.410C>T c.455A>C |
Exon 2
Exon 2 Exon 3 Exon 3 |
p.Leu62Phe p.Ser103Pro p.Ala137Val p.Asn152Thr |
chr1:25284610 chr1:25284731 chr1:25290715 chr1:25290760 |
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0:Antigen Alleles | DIII type 6 | RHD*03.06 RHD*DIII.06 |
c.410C>T c.455A>C c.602C>G c.667T>G c.819G>A |
Exon 3
Exon 3 Exon 4 Exon 5 Exon 6 |
p.Ala137Val p.Asn152Thr p.Thr201Arg p.Phe223Val silent |
chr1:25290715 chr1:25290760 chr1:25301061 chr1:25301552 chr1:25303339 |
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0:Antigen Alleles | DIII type 7 (likely the historically defined DIIIb) | RHD*03.07 RHD*DIII.07 |
c.150T>C c.178A>C c.201G>A c.203G>A c.307T>C c.410C>T c.455A>C c.602C>G c.667T>G |
Exon 2
Exon 2 Exon 2 Exon 2 Exon 2 Exon 3 Exon 3 Exon 4 Exon 5 |
silent p.Ile60Leu silent p.Ser68Asn p.Ser103Pro p.Ala137Val p.Asn152Thr p.Thr201Arg p.Phe223Val |
chr1:25284574 chr1:25284602 chr1:25284625 chr1:25284627 chr1:25284731 chr1:25290715 chr1:25290760 chr1:25301061 chr1:25301552 |
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0:Antigen Alleles | DIII type 8 | RHD*03.08 RHD*DIII.08 |
c.410C>T c.455A>C |
Exon 3
Exon 3 |
p.Ala137Val p.Asn152Thr |
chr1:25290715 chr1:25290760 |
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0:Antigen Alleles | DIII type 9 | RHD*03.09 RHD*DIII.09 |
c.186G>T c.410C>T c.455A>C c.667T>G |
Exon 2
Exon 3 Exon 3 Exon 5 |
p.Leu62Phe p.Ala137Val p.Asn152Thr p.Phe223Val |
chr1:25284610 chr1:25290715 chr1:25290760 chr1:25301552 |
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1:Weak Alleles | Type3.1 | RHD*01W.3.1 RHD*weak D type 3.1 |
c.8C>G c.178A>C |
Exon 1
Exon 2 |
p.Ser3Cys p.Ile60Leu |
chr1:25272555 chr1:25284602 |
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4:Null Alleles | D- | RHD*01N.04 | CE exons 3-9 | Hybrid | ||||||
1:Weak Alleles | Type 4.0, 4.1, 4.2, 4.2.2 weak partial | *See partial DAR RHD*09.03, 04, 05 RHD*weak partial 4 | ||||||||
3:Null Alleles | Del | RHD*01EL.04 RHD*DEL4 | c.147delA | Exon 1 | p.Val50Leufs*5 | chr1:25272694 |
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0:Antigen Alleles | DIVa RH30+ (Goa+) | RHD*04.01 RHD*DIVa |
c.186G>T c.410C>T c.455A>C c.1048G>C |
Exon 2
Exon 3 Exon 3 Exon 7 |
p.Leu62Phe p.Ala137Val p.Asn152Thr p.Asp350His |
chr1:25284610 chr1:25290715 chr1:25290760 chr1:25306704 |
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0:Antigen Alleles | DIVa-like or DIVa type 3 | RHD*04.01.02 |
c.186G>T c.410C>T c.455A>C c.667T>G c.1048G>C |
Exon 2
Exon 3 Exon 3 Exon 5 Exon 7 |
p.Leu62Phe p.Ala137Val p.Asn152Thr p.Phe223Val p.Asp350His |
chr1:25284610 chr1:25290715 chr1:25290760 chr1:25301552 chr1:25306704 |
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0:Antigen Alleles | DIV type 3 | RHD*04.03 RHD* DIV.3 |
c.916G>A c.932A>G c.941G>T c.968C>A c.974G>T c.979A>G c.985G>C c.986G>A c.989A>C c.992A>T c.1025T>C c.1048G>C c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A c.1063 G>T c.1170T>C c.1193A>T |
Exon 6
Exon 6 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 9 Exon 9 |
p.Val306Ile p.Tyr311Cys p.Gly314Val p.Pro323His p.Ser325Ile p.Ile327Val p.Gly329His p.Gly329His p.Tyr330Ser p.Asn331Ile p.Ile343Thr p.Asp350His silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn silent silent p.Glu398Val |
chr1:25303436 chr1:25303452 chr1:25306597 chr1:25306624 chr1:25306630 chr1:25306635 chr1:25306641 chr1:25306642 chr1:25306645 chr1:25306648 chr1:25306681 chr1:25306704 chr1:25306709 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 chr1:25306719 chr1:25321905 chr1:25321928 |
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0:Antigen Alleles | DIV type 4 | RHD*04.04 RHD*DIV.4 |
c.1048G>C, c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A |
Intron 7
Exon 7 Exon 7 Exon 7 Exon 7 |
p.Asp350His silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn |
chr1:25307757 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 |
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0:Antigen Alleles | DIV type 5 | RHD*04.05 RHD*DIV.5 |
c.941G>T c.968C>A c.974G>T c.979A>G c.985G>C c.986G>A c.989A>C c.992A>T c.1025T>C c.1048G>C c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A c.1063G>T c.1170T>C c.1193A>T |
Exon 7
Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Intron 7 Exon 7 Exon 7 Exon 7 Exon 9 Exon 9 |
p.Gly314Val p.Pro323His p.Ser325Ile p.Ile327Val p.Gly329His p.Gly329His p.Tyr330Ser p.Asn331Ile p. Ile342Thr p.Asp350His silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn silent silent p.Glu398Val |
chr1:25306597 chr1:25306624 chr1:25306630 chr1:25306635 chr1:25306641 chr1:25306642 chr1:25306645 chr1:25306648 chr1:25306681 chr1:25306704 chr1:25306709 chr1:25307772 chr1:25306716 chr1:25306717 chr1:25306719 chr1:25321905 chr1:25321928 |
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0:Antigen Alleles | DIVb | RHD*04.06 RHD*DIVb |
c.1048G>C c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A c.1170T>C c.1193A>T |
Exon 7
Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 9 Exon 9 |
p.Asp350His silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn silent p.Glu398Val |
chr1:25306704 chr1:25306709 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 chr1:25321905 chr1:25321928 |
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4:Null Alleles | D- | RHD*01N.05 | CE exons 2-7 | Hybrid | ||||||
3:Null Alleles | Del | RHD*01EL.05 RHD*DEL5 | c.148+1G>A | Intron 1 | Splice site mutation | chr1:25272696 |
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1:Weak Alleles | Type 5 | RHD*01W.5 RHD*weak D type 5 | c.446C>A | Exon 3 | p.Ala149Asp | chr1:25290751 | ||||
0:Antigen Alleles | DV type 1 | RHD*05.01 RHD*DV.1 |
c.667T>G c.697G>C |
Exon 5
Exon 5 |
p.Phe223Val p.Glu233Gln |
chr1:25301552 chr1:25301582 |
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0:Antigen Alleles | DV type 2 | RHD*05.02 RHD*DV.2 |
c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Phe223Val p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met |
chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 |
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0:Antigen Alleles | DV type 3 | RHD*05.03 RHD*DV.3 |
c.667T>G c.676G>C c.697G>C c.712G>A |
Exon 5
Exon 5 Exon 5 Exon 5 |
p.Phe223Val p.Ala226Pro p.Glu233Gln p.Val238Met |
chr1:25301552 chr1:25301561 chr1:25301582 chr1:25301597 |
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0:Antigen Alleles | DV Type 4 RH:23 (Dw+) | RHD*05.04 RHD*DV.4 | c.697G>C | Exon 5 | p.Glu233Gln | chr1:25301582 | ||||
0:Antigen Alleles | DV type 5 RH:-23 (Dw-) | RHD*05.05 RHD*DV.5 | c.697G>A | Exon 5 | p.Glu233Lys | chr1:25301582 | ||||
0:Antigen Alleles | DV type 6 | RHD*05.06 RHD*DV.6 |
c.667T>G c.697G>C c.712G>A |
Exon 5
Exon 5 Exon 5 |
p.Phe223Val p.Glu233Gln p.Val238Met |
chr1:25301552 chr1:25301582 chr1:25301597 |
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0:Antigen Alleles | DV type 7 | RHD*05.07 RHD*DV.7 |
c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Phe223Val p.Glu233Gln p.Val238Met p.Val245Leu p.Gly263Arg silent p.Gly263Arg |
chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 |
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0:Antigen Alleles | DV type 8 | RHD*05.08 RHD*DV.8 |
c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 |
p.Phe223Val p.Glu233Gln p.Val238Met p.Val245Leu silent |
chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 |
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0:Antigen Alleles | DV type 9 | RHD*05.09 RHD*DV.9 |
c.697G>C c.712G>A |
Exon 5
Exon 5 |
p.Glu233Gln p.Val238Met |
chr1:25301582 chr1:25301597 |
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0:Antigen Alleles | DV type 10 | RHD*05.10 RHD*DV.10 |
c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 |
p.Phe223Val p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys |
chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 |
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3:Null Alleles | Del or weak D | RHD*01EL.06 RHD*DEL6 | c.251T>C | Exon 2 | p.Leu84Pro | chr1:25284675 |
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1:Weak Alleles | Type 6 | RHD*01W.6 RHD*weak D type 6 | c.29G>A | Exon 1 | p.Arg10Gln | chr1:25272576 | ||||
4:Null Alleles | D- C+ very weak | RHD*01N.06 | CE exons 4-7 with 733C>G 1006G>T | Exon 1 |
Hybrid with p.Leu245Val p.Gly336Cys |
chr1:25272551 |
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0:Antigen Alleles | DVI type 1 RH:─52 (BARC─) | RHD*06.01 RHD*DVI.1 |
c.505A>C c.509T>G c.514A>T c.544T>A c.577G>A c.594A>T c.602C>G c.667T>G c.676G>C c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T |
Exon 4
Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Met169Leu p.Met170Arg p.Ile172Phe p.Ser182Thr p.Glu193Lys p.Lys198Asn p.Thr201Arg p.Phe223Val p.Ala226Pro p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met |
chr1:25300964 chr1:25300968 chr1:25300973 chr1:25301003 chr1:25301036 chr1:25301053 chr1:25301061 chr1:25301552 chr1:25301561 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 |
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0:Antigen Alleles | DVI type 2 RH:52 (BARC+) | RHD*06.02 RHD*DVI.2 |
c.505A>C c.509T>G c.514A>T c.544T>A c.577G>A c.594A>T c.602C>G c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G |
Exon 4
Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 |
p.Met169Leu p.Met170Arg p.Ile172Phe p.Ser182Thr p.Glu193Lys p.Lys198Asn p.Thr201Arg p.Phe223Val p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys |
chr1:25300964 chr1:25300968 chr1:25300973 chr1:25301003 chr1:25301036 chr1:25301053 chr1:25301061 chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 |
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0:Antigen Alleles | DVI type 3 RH:52 BARC+ | RHD*06.03.01 RHD*DVI.3 |
c.361T>A c.380T>C c.383A>G c.455A>C c.505A>C c.509T>G c.514A>T c.544T>A c.577G>A c.594A>T c.602C>G c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G |
Exon 3
Exon 3 Exon 3 Exon 3 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 |
p.Leu121Met p.Val127Ala p.Asp128Gly p.Asn152Thr p.Met169Leu p.Met170Arg p.Ile172Phe p.Ser182Thr p.Glu193Lys p.Lys198Asn p.Thr201Arg p.Phe223Val p.Glu233Gln p.Val238Met p.Val254Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys |
chr1:25290666 chr1:25290685 chr1:25290688 chr1:25290760 chr1:25300964 chr1:25300968 chr1:25300973 chr1:25301003 chr1:25301036 chr1:25301053 chr1:25301061 chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 |
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0:Antigen Alleles | DVI type 3.2 BARC not tested | RHD*06.03.02 RHD*DVI.03.02 |
c.361T>A c.380T>C c.383A>G c.455A>C c.505A>C c.509T>G c.514A>T c.544T>A c.577G>A c.594A>T c.602C>G c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G c.1195G>A |
Exon 3
Exon 3 Exon 3 Exon 3 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 Exon 9 |
p.Leu121Met p.Val127Ala p.Asp128Gly p.Asn152Thr p.Met169Leu p.Met170Arg p.Ile172Phe p.Ser182Thr p.Glu193Lys p.Lys198Asn p.Thr201Arg p.Phe223Val p.Glu233Gln p.Val238Met p.Val254Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys p.Ala399Thr |
chr1:25290666 chr1:25290685 chr1:25290688 chr1:25290760 chr1:25300964 chr1:25300968 chr1:25300973 chr1:25301003 chr1:25301036 chr1:25301053 chr1:25301061 chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 chr1:25321930 |
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0:Antigen Alleles | DVI type 4 RH:52 (BARC+) | RHD*06.04 RHD*DVI.4 |
c.361T>A c.380T>C c.383A>G c.455A>C c.505A>C c.509T>G c.514A>T c.544T>A c.577G>A c.594A>T c.602C>G c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T |
Exon 3
Exon 3 Exon 3 Exon 3 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Leu121Met p.Val127Ala p.Asp128Gly p.Asn152Thr p.Met169Leu p.Met170Arg p.Ile172Phe p.Ser182Thr p.Glu193Lys p.Lys198Asn p.Thr201Arg p.Phe223Val p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met |
chr1:25290666 chr1:25290685 chr1:25290688 chr1:25290760 chr1:25300964 chr1:25300968 chr1:25300973 chr1:25301003 chr1:25301036 chr1:25301053 chr1:25301061 chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 |
||||
1:Weak Alleles | Type 7 | RHD*01W.7 RHD*weak D type 7 | c.1016G>A | Exon 7 | p.Gly339Glu | chr1:25306672 |
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4:Null Alleles | D-G+ | RHD*01N.07 | CE exons 4-7 | Hybrid | ||||||
3:Null Alleles | Del or weak D | RHD*01EL.07 RHD*DEL7 | c.410C>A | Exon 3 | p.Ala137Glu | chr1:25290715 |
|
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0:Antigen Alleles | DVII RH:40 (Tar+) | RHD*07.01 RHD*DVII.1 | c.329T>C | Exon 2 | p.Leu110Pro | chr1:25284753 | ||||
0:Antigen Alleles | DVII type 2 | RHD*07.02 RHD*DVII.2 |
c.307T>C c.329T>C |
Exon 2
Exon 2 |
p.Ser103Pro p.Leu110Pro |
chr1:25284731 chr1:25284753 |
||||
1:Weak Alleles | Type 8 | RHD*01W.8 RHD*weak D type 8 | c.919G>A | Exon 6 | p.Gly307Arg | chr1:25303439 | ||||
4:Null Alleles | D- | RHD*08N.01 RHD*Pseudo gene RHD* Ψ |
37- bp insertion c.609G>A c.654G>C c.667T>G c.674C>T c.807T>G |
Exon 5 Exon 5 Exon 5 Exon 6 |
p.0 |
chr1:25271975 chr1:25301539 chr1:25301552 chr1:25301559 chr1:25303327 |
|
|
||
4:Null Alleles | D- | RHD*01N.08 | c.48G>A | Exon 1 | p.Trp16* | chr1:25272595 | ||||
3:Null Alleles | Del | RHD*01EL.08 RHD*DEL8 | c.486+1G>A | Intron 3 | Splice site mutation | chr1:25290792 | ||||
0:Antigen Alleles | DFV | RHD*08.01 RHD*DFV | c.667T>G | Exon 5 | p.Phe223Val | chr1:25301552 | ||||
4:Null Alleles | D- | RHD*01N.09 |
c.121C>T c.643T>C c.646T>C c.988T>C |
Exon 1
Exon 5 Exon 5 Exon 7 |
p.Gln41Ter |
chr1:25272668 chr1:25301528 chr1:25301531 chr1:25306644 |
|
|
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1:Weak Alleles | Type 9 | RHD*01W.9 RHD*weak D type 9 | c.880G>C | Exon 6 | p.Ala294Pro | chr1:25303400 |
|
|||
3:Null Alleles | Del or D negative | RHD*01EL.09 RHD*DEL9 | c.486+2T>A | Intron 3 | Splice site mutation | chr1:25290793 | ||||
0:Antigen Alleles | DAR1 (weak D 4.2) | RHD*09.01.00 RHD*DAR1.00 |
c.602C>G c.667T>G c.1025T>C |
Exon 4
Exon 5 Exon 7 |
p.Thr201Arg p.Phe223Val p.Ile342Thr |
chr1:25301061 chr1:25301552 chr1:25306681 |
||||
0:Antigen Alleles | DAR(T203A) | RHD*09.01 RHD*DAR |
c.602C>G c.607A>G c.667T>G c.744C>T c.957G>A c.1025T>C |
Exon 4
Exon 4 Exon 5 Exon 5 Exon 7 Exon 7 |
p.Thr201Arg p.Thr203Ala p.Phe223Val silent silent p.Ile342Thr |
chr1:25301061 chr1:25301066 chr1:25301552 chr1:25301629 chr1:25306613 chr1:25306681 |
|
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0:Antigen Alleles | DAR1.1 (weak D 4.2.1) | RHD*09.01.01 RHD*DAR1.01 |
c.602C>G c.667T>G c.957G>A c.1025T>C |
Exon 4
Exon 5 Exon 7 Exon 7 |
p.Thr201Arg p.Phe223Val silent p.Ile342Thr |
chr1:25301061 chr1:25301552 chr1:25306613 chr1:25306681 |
||||
0:Antigen Alleles | DAR1.2 (weak D 4.2.2) | RHD*09.01.02 RHD*DAR1.02 |
c.602C>G c.667T>G c.744C>T c.957G>A c.1025T>C |
Exon 4
Exon 5 Exon 5 Exon 7 Exon 7 |
p.Thr201Arg p.Phe223Val silent silent p.Ile342Thr |
chr1:25301061 chr1:25301552 chr1:25301629 chr1:25306613 chr1:25306681 |
||||
0:Antigen Alleles | DAR1.3 (weak D 4.2.3) | RHD*09.01.03 RHD*DAR1.03 |
c.602C>G c.667T>G c.744C>T c.1025T>C |
Exon 4
Exon 5 Exon 5 Exon 7 |
p.Thr201Arg p.Phe223Val silent p.Ile342Thr |
chr1:25301061 chr1:25301552 chr1:25301629 chr1:25306681 |
||||
0:Antigen Alleles | DAR2 (DARE) | RHD*09.02.00 RHD*DAR2.00 |
c.602C>G c.667T>G c.697G>C c.957G>A c.1025T>C |
Exon 4
Exon 5 Exon 5 Exon 7 Exon 7 |
p.Thr201Arg p.Phe223Val p.Glu233Gln silent p.Ile342Thr |
chr1:25301061 chr1:25301552 chr1:25301582 chr1:25306613 chr1:25306681 |
||||
0:Antigen Alleles | DAR2.1 | RHD*09.02.01 RHD*DAR2.01 |
c.602C>G c.667T>G c.697G>C c.744C>T c.957G>A c.1025T>C |
Exon 4
Exon 5 Exon 5 Exon 5 Exon 7 Exon 7 |
p.Thr201Arg p.Phe223Val p.Glu233Gln silent silent p.Ile342Thr |
chr1:25301061 chr1:25301552 chr1:25301582 chr1:25301629 chr1:25306613 chr1:25306681 |
||||
0:Antigen Alleles | DAR3 (weak partial D 4.0.1) | RHD*09.03 RHD*DAR3 |
c.602C>G c.667T>G |
Exon 4
Exon 5 |
p.Thr201Arg p.Phe223Val |
chr1:25301061 chr1:25301552 |
||||
0:Antigen Alleles | DAR3.1 (weak partial D 4.0) | RHD*09.03.01 RHD*DAR3.01 |
c.602C>G c.667T>G c.819G>A |
Exon 4
Exon 5 Exon 6 |
p.Thr201Arg p.Phe223Val silent |
chr1:25301061 chr1:25301552 chr1:25303339 |
||||
0:Antigen Alleles | DAR4 (weak D 4.1) | RHD*09.04 RHD*DAR4 |
c.48G>C c.602C>G c.667T>G c.819G>A |
Exon 1
Exon 4 Exon 5 Exon 6 |
p.Trp16Cys p.Thr201Arg p.Phe223Val silent |
chr1:25272595 chr1:25301061 chr1:25301552 chr1:25303339 |
||||
0:Antigen Alleles | DAR5 (weak D 4.3 or Del) | RHD*09.05 RHD*DAR5 |
c.602C>G c.667T>G c.819G>A c.872C>G |
Exon 4
Exon 5 Exon 6 Exon 6 |
p.Thr201Arg p.Phe223Val silent p.Pro291Arg |
chr1:25301061 chr1:25301552 chr1:25303339 chr1:25303392 |
||||
0:Antigen Alleles | DAR6 Or DAR(CE2:V50V S68N) | RHD*09.06 RHD*DAR6 Or RHD*09.06 RHD*DAR(CE2 :V50V-S68N) |
c.150T>C c.178A>C c.201G>A c.203G>A c.602C>G c.667T>G c.1025T>C |
Exon 2
Exon 2 Exon 2 Exon 2 Exon 4 Exon 5 Exon 7 |
silent p.Ile60Leu silent p.Ser68Asn p.Thr201Arg p.Phe223Val p.Ile342Thr |
chr1:25284574 chr1:25284602 chr1:25284625 chr1:25284627 chr1:25301061 chr1:25301552 chr1:25306681 |
||||
1:Weak Alleles | Type 10 | RHD*01W.10 RHD*weak D type 10 | c.1177T>C | Exon 9 | p.Trp393Arg | chr1:25321912 | ||||
4:Null Alleles | D- | RHD*01N.10 | c.270G>A | Exon 2 | p.Trp90* | chr1:25284694 |
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0:Antigen Alleles | DAU0 | RHD*10.00 RHD*DAU0 | c.1136C>T | Exon 8 | p.Thr379Met | chr1:25317062 |
|
|||
3:Null Alleles | Del | RHD*01EL.10 RHD*DEL10 | c.1222T>C | Exon 9 | p.Trp408Arg | chr1:25321957 |
|
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0:Antigen Alleles | DAU0.01 | RHD*10.00.01 RHD*DAU0.01 |
c.1136C>T c.579G>A |
Exon 4
Exon 8 |
p.Thr379Met silent |
chr1:25301038 chr1:25317062 |
|
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0:Antigen Alleles | DAU0.02 | RHD*10.00.02 RHD*DAU0.02 |
c.1136C>T c.150T>C |
Exon 2
Exon 8 |
p.Thr370Met Silent(commo n) |
chr1:25284574 chr1:25317062 |
|
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0:Antigen Alleles | DAU1 | RHD*10.01 RHD*DAU1 |
c.689G>T c.1136C>T |
Exon 5
Exon 8 |
p.Ser230Ile p.Thr379Met |
chr1:25301574 chr1:25317062 |
|
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0:Antigen Alleles | DAU2 | RHD*10.02 RHD*DAU2 |
c.209G>A c.998G>A c.1136C>T |
Exon 2
Exon 7 Exon 8 |
p.Arg70Gln p.Ser333Asn p.Thr379Met |
chr1:25284633 chr1:25306654 chr1:25317062 |
|
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0:Antigen Alleles | DAU3 | RHD*10.03 RHD*DAU3 |
c.835G>A c.1136C>T |
Exon 6
Exon 8 |
p.Val279Met p.Thr379Met |
chr1:25303355 chr1:25317062 |
|
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0:Antigen Alleles | DAU4 | RHD*10.04 RHD*DAU4 |
c.697G>A c.1136C>T |
Exon 5
Exon 8 |
p.Glu233Lys p.Thr379Met |
chr1:25301582 chr1:25317062 |
|
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0:Antigen Alleles | DAU5 | RHD*10.05 RHD*DAU5 |
c.667T>G c.697G>C c.1136C>T |
Exon 5
Exon 5 Exon 8 |
p.Phe223Val p.Glu233Gln p.Thr379Met |
chr1:25301552 chr1:25301582 chr1:25317062 |
|
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0:Antigen Alleles | DAU5.1 | RHD*10.05.01 RHD*DAU5.01 |
c.667T>G c.697G>C c.1122C>T c.1136C>T |
Exon 5
Exon 5 Exon 8 Exon 8 |
p.Phe223Val p.Glu233Gln silent p.Thr379Met |
chr1:25301552 chr1:25301582 chr1:25317048 chr1:25317062 |
|
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0:Antigen Alleles | DAU6 | RHD*10.06 RHD*DAU6 |
c.998G>A c.1136C>T |
Exon 7
Exon 8 |
p.Ser333Asn p.Thr379Met |
chr1:25306654 chr1:25317062 |
|
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0:Antigen Alleles | DAU7 | RHD*10.07 RHD*DAU7 |
c.835G>A c.998G>A c.1136C>T |
Exon 6
Exon 7 Exon 8 |
p.Val279Met p.Ser333Asn p.Thr379Met |
chr1:25303355 chr1:25306654 chr1:25317062 |
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0:Antigen Alleles | DAU8 | RHD*10.08 RHD*DAU8 |
c.340C>T c.579G>A c.1136C>T |
Exon 3
Exon 4 Exon 8 |
p.Arg114Trp silent p.Thr379Met |
chr1:25290645 chr1:25301038 chr1:25317062 |
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0:Antigen Alleles | DAU9 | RHD*10.09 RHD*DAU9 |
c.535T>C c.1136C>T |
Exon 4
Exon 8 |
p.Phe179Leu p.Thr379Met |
chr1:25300994 chr1:25317062 |
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1:Weak Alleles | Type 10.1 | RHD*01W.10.1 RHD*weak D type 10.1 |
c.1145T>C c.1177T>C |
Exon 8
Exon 9 |
p.Leu382Pro p.Trp393Arg |
chr1:25317071 chr1:25321912 |
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0:Antigen Alleles | DAU10 | RHD*10.10 RHD*DAU10 |
c.579G>A c.739G>C c.1136C>T |
Exon 4
Exon 5 Exon 8 |
silent p.Val247Leu p.Thr379Met |
chr1:25301038 chr1:25301624 chr1:25317062 |
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0:Antigen Alleles | DAU11 | RHD*10.11 RHD*DAU11 |
c.254C>T c.835G>A c.1136C>T |
Exon 2
Exon 6 Exon 8 |
p.Ala85Val p.Val279Met p.Thr379Met |
chr1:25284678 chr1:25303355 chr1:25317062 |
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0:Antigen Alleles | DAU12 | RHD*10.12 RHD*DAU12 |
c.542T>C c.1136C>T |
Exon 4
Exon 8 |
p.Leu181Pro p.Thr379Met |
chr1:25301001 chr1:25317062 |
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0:Antigen Alleles | DAU13 | RHD*10.13 RHD*DAU13 |
c.48G>C c.1136C>T |
Exon 1
Exon 8 |
p.Trp16Cys p.Thr379Met |
chr1:25272595 chr1:25317062 |
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0:Antigen Alleles | DAU14 | RHD*10.14 RHD*DAU14 |
c.201G>A c.203G>A c.1136C>T |
Exon 2
Exon 2 Exon 8 |
silent p.Ser68Asn p.Thr379Met |
chr1:25284625 chr1:25284627 chr1:25317062 |
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0:Antigen Alleles | RHD(M1V,T379M ) Or DAU15 | RHD*10.15 RHD*DAU15 Or RHD10.15 |
c.1A>G c.1136C>T |
Exon 1
Exon 8 |
p.Met1Val p.Thr379Met |
chr1:25272548 chr1:25317062 |
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1:Weak Alleles | Type 10.2 | RHD*01W.10.2 RHD*weak D type 10.2 |
c.1177T>C c.1199A>C |
Exon 9
Exon 9 |
p.Trp393Arg p.Lys400Thr |
chr1:25321912 chr1:25321934 |
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0:Antigen Alleles | Type 11 weak partial or Del phenotype | See partial RHD*11 | c.885G>T | Exon 6 | p.Met295Ile | chr1:25303405 | ||||
4:Null Alleles | D- | RHD*01N.11 | c.325delA | Exon 2 | p.Thr109Hisfs*10 | chr1:25284749 |
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0:Antigen Alleles | weak partial 11 or Del | RHD*11 RHD*weak partial 11 | c.885G>T | Exon 6 | p.Met295Ile | chr1:25303405 | ||||
3:Null Alleles | Del | RHD*01EL.11 RHD*DEL11 | c.1252_1253insT | Exon 10 | p.*418Leuext*71 | chr1:25328922 |
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4:Null Alleles | D- | RHD*01N.12 | c.449delT | Exon 3 | p.Leu150* | chr1:25290754 |
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1:Weak Alleles | Type 12 | RHD*01W.12 RHD*weak D type 12 | c.830G>A | Exon 6 | p.Gly277Glu | chr1:25303350 |
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3:Null Alleles | Del | RHD*01EL.12 RHD*DEL12 | c.458T>C | Exon 3 | p.Leu153Pro | chr1:25290763 |
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0:Antigen Alleles | DOL1 RH:54(DAK+) | RHD*12.01 RHD*DOL1 |
c.509T>C c.667T>G |
Exon 4
Exon 5 |
p.Met170Thr p.Phe223Val |
chr1:25300968 chr1:25301552 |
||||
0:Antigen Alleles | DOL2 RH:54(DAK+) | RHD*12.02 RHD*DOL2 |
c.509T>C c.667T>G c.1132C>G |
Exon 4
Exon 5 Exon 8 |
p.Met170Thr p.Phe223Val p.Leu378Val |
chr1:25300968 chr1:25301552 chr1:25317058 |
||||
0:Antigen Alleles | DOL3 | RHD*12.03 RHD*DOL3 |
c.410C>T c.509T>C c.667T>G |
Exon 3
Exon 4 Exon 5 |
p.Ala137Val p.Met170Thr p.Phe223Val |
chr1:25290715 chr1:25300968 chr1:25301552 |
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0:Antigen Alleles | DOL4 | RHD*12.04 RHD*DOL4 |
c.410C>T c.455A>C c.509T>C c.667T>G |
Exon 3
Exon 3 Exon 4 Exon 5 |
p.Ala137Val p.Asn152Thr p.Met170Thr p.Phe223Val |
chr1:25290715 chr1:25290760 chr1:25300968 chr1:25301552 |
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4:Null Alleles | D- | RHD*01N.13 | c.487_490delACAG | Exon 4 | p.Asp164Thrfs*3 | chr1:25300946 |
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3:Null Alleles | Del or D negative | RHD*01EL.13 RHD*DEL13 | c.785delA | Exon 5 | p.Lys264Argfs*24 | chr1:25301670 |
|
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1:Weak Alleles | Type 13 | RHD*01W.13 RHD*weak D type 13 | c.826G>C | Exon 6 | p.Ala276Pro | chr1:25303346 |
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0:Antigen Alleles | DBS1 | RHD*13.01 RHD*DBS1 |
c.667T>G c.676G>C c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Phe223Val p.Ala226Pro p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met |
chr1:25301552 chr1:25301561 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 |
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0:Antigen Alleles | DBS2 | RHD*13.02 RHD*DBS2 |
c.667T>G c.676G>C c.697G>C |
Exon 5
Exon 5 Exon 5 |
p.Phe223Val p.Ala226Pro p.Glu233Gln |
chr1:25301552 chr1:25301561 chr1:25301582 |
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4:Null Alleles | D- | RHD*01N.14 | c.554G>A | Exon 4 | p.Trp185* | chr1:25301013 |
|
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1:Weak Alleles | Type 14 | RHD*01W.14 RHD*weak D type 14 |
c.544T>A c.594A>T c.602C>G |
Exon 4
Exon 4 Exon 4 |
p.Ser182Thr p.Lys198Asn p.Thr201Arg |
chr1:25301003 chr1:25301053 chr1:25301061 |
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3:Null Alleles | Del | RHD*01EL.14 RHD*DEL14 | c.634+5G>T | Intron 4 | Splice site mutation | chr1:25301098 |
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0:Antigen Alleles | DBT1 | RHD*14.01 RHD*DBT1 |
c.667T>G c.697G>C c.712 G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G c.941G>T c.968C>A c.974G>T c.979A>G c.985 G>C c.986 G>A c.989 A>C c.992 A>T c.1025T>C c.1048G>C c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 |
p.Phe223Val p.Glu233Gln p.Val238Met p.Val254Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys p.Gly314Val p.Pro323His p.Ser325Ile p.Ile327Val p.Gly329His p.Gly329His p. Tyr330Ser p.Asn331Ile p.Ile342Thr p.Asp350His silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn |
chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 chr1:25306597 chr1:25306624 chr1:25306630 chr1:25306635 chr1:25306641 chr1:25306642 chr1:25306645 chr1:25306648 chr1:25306681 chr1:25306704 chr1:25306709 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 |
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0:Antigen Alleles | DBT2 | RHD*14.02 RHD*DBT2 |
c.667T>G c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G c.941G>T c.968C>A c.974G>T c.979A>G c.985G>C c.986G>A c.989A>C c.992A>T c.1025T>C c.1048G>C c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A c.1170T>C c.1193A>T |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 9 Exon 9 |
p.Phe223Val p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys p.Gly314Val p.Pro323His p.Ser325Ile p.Ile327Val p.Gly329His p.Gly329His p.Tyr330Ser p.Asn331Ile p.Ile342Thr p.Asp350His silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn silent p.Glu398Val |
chr1:25301552 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 chr1:25306597 chr1:25306624 chr1:25306630 chr1:25306635 chr1:25306641 chr1:25306642 chr1:25306645 chr1:25306648 chr1:25306681 chr1:25306704 chr1:25306709 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 chr1:25321905 chr1:25321928 |
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0:Antigen Alleles | Type 15 weak partial phenotype | See partial RHD*15 | allo-anti-D reported | |||||||
4:Null Alleles | D- | RHD*01N.15 | c.635G>T | Exon 5 | p.Gly212Val | chr1:25301520 |
|
|||
3:Null Alleles | Del or D negative | RHD*01EL.15 RHD*DEL15 | c.922G>T | Exon 6 | p.Gly308* | chr1:25303442 |
|
|||
0:Antigen Alleles | Weak partial Type 15 | RHD*15 RHD*weak partial 15 | c.845G>A | Exon 6 | p.Gly282Asp | chr1:25303365 | ||||
1:Weak Alleles | Type 16 | RHD*01W.16 RHD*weak D type 16 | c.658T>C | Exon 5 | p.Trp220Arg | chr1:25301543 |
|
|||
3:Null Alleles | Del | RHD*01EL.16 RHD*DEL16 | c.634G>C | Exon 4 | p.Gly212Arg | chr1:25301093 |
|
|||
4:Null Alleles | D- | RHD*01N.16 | c.711delC | Exon 5 | p.Val238Cysfs*8 | chr1:25301596 | ||||
0:Antigen Alleles | DCS1 | RHD*16.01 RHD*DCS1 |
c.667T>G c.676G>C |
Exon 5
Exon 5 |
p.Phe223Val p.Ala226Pro |
chr1:25301552 chr1:25301561 |
||||
0:Antigen Alleles | DCS2 | RHD*16.02 RHD*DCS2 | c.676G>C | Exon 5 | p.Ala226Pro | chr1:25301561 | ||||
0:Antigen Alleles | DCS-3 | RHD*16.03 RHD*DCS3 |
c.667T>G c.676G>C c.697G>C |
Exon 5
Exon 5 Exon 5 |
p.Phe223Val p.Ala226Pro p.Glu233Gln |
chr1:25301552 chr1:25301561 chr1:25301582 |
||||
3:Null Alleles | Del | RHD*01EL.17 RHD*DEL17 | c.1203T>A | Exon 9 | p.Tyr401* | chr1:25321938 | ||||
1:Weak Alleles | Type 17 | RHD*01W.17 RHD*weak D type 17 | c.340C>T | Exon 3 | p.Arg114Trp | chr1:25290645 | ||||
4:Null Alleles | D- | RHD*01N.17 |
c.652delA c.653T>G |
Exon 5
Exon 5 |
p.Met218Glyfs*11 |
chr1:25301537 chr1:25301538 |
|
|
||
0:Antigen Alleles | DFR1 | RHD*17.01 RHD*DFR1 |
c.505A>C c.509T>G c.514A>T |
Exon 4
Exon 4 Exon 4 |
p.Met169Leu p.Met170Arg p.Ile172Phe |
chr1:25300964 chr1:25300968 chr1:25300973 |
||||
0:Antigen Alleles | DFR2 | RHD*17.02 RHD*DFR2 |
c.505A>C c.509T>G c.514A>T c.544T>A c.577G>A c.594A>T c.602C>G |
Exon 4
Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 |
p.Met169Leu p.Met170Arg p.Ile172Phe p.Ser182Thr p.Glu193Lys p.Lys198Asn p.Thr201Arg |
chr1:25300964 chr1:25300968 chr1:25300973 chr1:25301003 chr1:25301036 chr1:25301053 chr1:25301061 |
||||
0:Antigen Alleles | DFR3 | RHD*17.03 RHD*DFR3 |
c.505A>C c.509T>G c.514A>T c.539G>C |
Exon 4
Exon 4 Exon 4 Exon 4 |
p.Met169Leu p.Met170Arg p.Ile172Phe p.Gly180Ala |
chr1:25300964 chr1:25300968 chr1:25300973 chr1:25300998 |
||||
0:Antigen Alleles | DFR4 | RHD*17.04 RHD*DFR4 |
c.505A>C c.509T>G |
Exon 4
Exon 4 |
p.Met169Leu p.Met170Arg |
chr1:25300964 chr1:25300968 |
||||
0:Antigen Alleles | DFR5 | RHD*17.05 RHD*DFR5 |
c.361 T>A c.380 T>C c.383 A>G c.455 A>C c.505 A>C c.509 T>G c.514 A>T c.544 T>A c.577 G>A c.594 A>T c.602 C>G |
Exon 3
Exon 3 Exon 3 Exon 3 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 |
p.Leu121Met p.Val127Ala p.Asp128Gly p.Asn152Thr p.Met169Leu p.Met170Arg p.Ile172Phe p.Ser182Thr p.Glu193Lys p.Lys198Asn p.Thr201Arg |
chr1:25290666 chr1:25290685 chr1:25290688 chr1:25290760 chr1:25300964 chr1:25300968 chr1:25300973 chr1:25301003 chr1:25301036 chr1:25301053 chr1:25301061 |
||||
3:Null Alleles | Del | RHD*01EL.18 RHD*DEL18 | c.93_94insT | Exon 1 | p.Thr32Tyrfs*4 | chr1:25272640 |
|
|||
1:Weak Alleles | Type 18 | RHD*01W.18 RHD*weak D type 18 | c.19C>T | Exon 1 | p.Arg7Trp | chr1:25272566 | ||||
0:Antigen Alleles | DFW | RHD*18 RHD*DFW | c.497A>C | Exon 4 | p.His166Pro | chr1:25300956 | ||||
4:Null Alleles | D- | RHD*01N.18 | c.807T>G | Exon 6 | p.Tyr269* | chr1:25303327 | ||||
4:Null Alleles | D- | RHD*01N.19 | c.933C>A | Exon 6 | p.Tyr311* | chr1:25303453 |
|
|||
0:Antigen Alleles | DHMi | RHD*19 RHD*DHMi | c.848C>T | Exon 6 | p.Thr283Ile | chr1:25303368 | ||||
1:Weak Alleles | Type 19 | RHD*01W.19 RHD*weak D type 19 | c.611T>C | Exon 4 | p.Ile204Thr | chr1:25301070 |
|
|||
3:Null Alleles | Del | RHD*01EL.19 RHD*DEL19 | c.635-2A>G | Intron 4 | Splice site mutation | chr1:25301518 |
|
|||
1:Weak Alleles | Type 20 | RHD*01W.20 RHD*weak D type 20 | c.1250T>C | Exon 10 | p.Phe417Ser | chr1:25328920 | ||||
0:Antigen Alleles | DHO | RHD*20 RHD*DHO | c.704A>C | Exon 5 | p.Lys235Thr | chr1:25301589 |
|
|||
3:Null Alleles | Del | RHD*01EL.20 RHD*DEL20 | c.1154-8T>A | Intron 8 | Splice site mutation | chr1:25321881 |
|
|||
4:Null Alleles | D- | RHD*01N.20 | c.941G>T | Exon 7 | p.Gly314Val | chr1:25306597 | ||||
4:Null Alleles | D- | RHD*01N.21 | c.990C>G | Exon 7 | p.Tyr330* | chr1:25306646 |
|
|||
3:Null Alleles | Del | RHD*01EL.21 RHD*DEL21 | c.148+5G>C | Intron 1 | Splice site mutation | chr1:25272700 |
|
|||
0:Antigen Alleles | Type 21 | See partial RHD*21 | allo reported -anti-D | |||||||
0:Antigen Alleles | Weak partial Type 21 | RHD*21 RHD*weak partial D 21 | c.938C>T | Exon 6 | p.Pro313Leu | chr1:25303458 |
|
|||
1:Weak Alleles | Type 22 | RHD*01W.22 RHD*weak D type 22 | c.1224G>C | Exon 9 | p.Trp408Cys | chr1:25321959 |
|
|||
3:Null Alleles | Del | RHD*01EL.22 RHD*DEL22 | c.336-2delA | Intron 2 | Splice site mutation | chr1:25290639 |
|
|||
4:Null Alleles | D- | RHD*01N.22 | c.1203T>A | Exon 9 | p.Tyr401* | chr1:25321938 | ||||
0:Antigen Alleles | DHR | RHD*22 RHD*DHR | c.686G>A | Exon 5 | p.Arg229Lys | chr1:25301571 |
|
|||
1:Weak Alleles | Type 23 | RHD*01W.23 RHD*weak D type 23 | c.634G>T | Exon 4 | p.Gly212Cys | chr1:25301093 |
|
|||
4:Null Alleles | D- | RHD*01N.23 | c.343delC | Exon 3 | p.Leu115Trpfs*4 | chr1:25290648 |
|
|||
3:Null Alleles | Del Partial D | RHD*01EL.23 RHD*DEL23 | RHD-CE(5-7)- D | Hybrid allele | ||||||
0:Antigen Alleles | DMH | RHD*23 RHD*DMH | c.161T>C | Exon 2 | p.Leu54Pro | chr1:25284585 |
|
|||
0:Antigen Alleles | DNAK | RHD*24 RHD*DNAK | c.1070G>A | Exon 7 | p.Gly357Asp | chr1:25306726 |
|
|||
3:Null Alleles | Del | RHD*01EL.24 RHD*DEL24 | c.838G>A | Exon 6 | p.Ala280Thr | chr1:25303358 |
|
|||
1:Weak Alleles | Type 24 | RHD*01W.24 RHD*weak D type 24 | c.1013T>C | Exon 7 | p.Leu338Pro | chr1:25306669 | ||||
4:Null Alleles | D- | RHD*01N.24 | c.335+1G>A | Intron 2 | Alternative splicing | chr1:25284760 |
|
|||
1:Weak Alleles | Type 25 | RHD*01W.25 RHD*weak D type 25 | c.341G>A | Exon 3 | p.Arg114Gln | chr1:25290646 | ||||
0:Antigen Alleles | DNB | RHD*25 RHD*DNB | c.1063G>A | Exon 7 | p.Gly355Ser | chr1:25306719 | ||||
3:Null Alleles | Del | RHD*01EL.25 RHD*DEL25 | c.1252T>A | Exon 10 | p.Ter418Lysext *? | chr1:25328922 |
|
|||
4:Null Alleles | D- | RHD*01N.25 | c.336-1G>A | Intron 2 | Alternative splicing | chr1:25290640 |
|
|||
0:Antigen Alleles | DNU | RHD*26 RHD*DNU | c.1057G>A | Exon 7 | p.Gly353Arg | chr1:25306713 | ||||
1:Weak Alleles | Type 26 | RHD*01W.26 RHD*weak D type 26 | c.26T>A | Exon 1 | p.Val9Asp | chr1:25272573 |
|
|||
3:Null Alleles | Del | RHD*01EL.26 RHD*DEL26 | c.1248_1249insG | Exon 10 | p.Phe417Valfs* ? | chr1:25328918 |
|
|||
4:Null Alleles | D- | RHD*01N.26 | c.1153+1G>A | Intron 8 | Alternative splicing | chr1:25317080 | ||||
4:Null Alleles | D- | RHD*01N.27 |
c.908_909insTGGCT c.939+2_939+5delTAAG |
Exon 6
Intron 6 |
p.Leu303Glyfs*3 |
chr1:25303428 chr1:25303461 |
|
|
||
1:Weak Alleles | Type 27 | RHD*01W.27 RHD*weak D type 27 | c.661C>T | Exon 5 | p.Pro221Ser | chr1:25301546 |
|
|||
0:Antigen Alleles | DDE | RHD*27 RHD*DDE | c.120T>A | Exon 1 | p.Asp40Glu | chr1:25272667 |
|
|||
4:Null Alleles | D- | RHD*01N.28 |
c.970_972delCAC c.976_991delTCCATC ATGGGCTACA |
Exon 7
Exon 7 |
p.His324Serfs*29 |
chr1:25306626 chr1:25306632 |
|
|
||
3:Null Alleles | Del | RHD*01EL.28 RHD*DEL28 | c.993delC | Exon 7 | p.Phe332Serfs* 27 | chr1:25306649 |
|
|||
1:Weak Alleles | Type 28 | RHD*01W.28 RHD*weak D type 28 | c.1152A>C | Exon 8 | p.Thr384Thr | chr1:25317078 |
|
|||
0:Antigen Alleles | DFL | RHD*28 RHD*DFL | c.494A>G | Exon 4 | p.Tyr165Cys | chr1:25300953 | ||||
4:Null Alleles | D- | RHD*01N.29 | c.660delG | Exon 5 | p.Trp220Cysfs*9 | chr1:25301545 | ||||
1:Weak Alleles | Type 29 | RHD*01W.29 RHD*weak D type 29 |
c.178A>C c.201G>A c.203G>A c.594A>T c.667T>G c.744C>T c.957G>A c.1025T>C |
Exon 2
Exon 2 Exon 2 Exon 4 Exon 5 Exon 5 Exon 7 Exon 7 |
p.Ile60Leu silent p.Ser68Asn p.Lys198Asn p.Phe223Val silent silent p.Ile342Thr |
chr1:25284602 chr1:25284625 chr1:25284627 chr1:25301053 chr1:25301552 chr1:25301629 chr1:25306613 chr1:25306681 |
||||
0:Antigen Alleles | DYU (DQC) | RHD*29 RHD*DYU | c.700A>T | Exon 5 | p.Arg234Trp | chr1:25301585 |
|
|||
3:Null Alleles | Del | RHD*01EL.29 RHD*DEL29 | c.1210G>C | Exon 9 | p.Asp404His | chr1:25321945 |
|
|||
3:Null Alleles | Del | RHD*01EL.30 RHD*DEL30 | c.1074-100_1153+?d el | Large Deletion | ||||||
4:Null Alleles | D- | RHD*01N.30 | c.745_757del | Exon 5 | p.Val249Serfs*35 | chr1:25301630 |
|
|||
0:Antigen Alleles | DTO | RHD*30 RHD*DTO |
c.667T>G c.674C>T |
Exon 5
Exon 5 |
p.Phe223Val p.Ser225Phe |
chr1:25301552 chr1:25301559 |
||||
4:Null Alleles | D- | RHD*01N.31 | c.93delC | Exon 1 | fs at 31 | chr1:25272640 | ||||
3:Null Alleles | Del | RHD*01EL.31 RHD*DEL31 | c.148+1G>T | Intron 1 | Splice site mutation | chr1:25272696 |
|
|||
0:Antigen Alleles | DVL1 | RHD*31 RHD*DVL1 | c.684_686delGAG | Exon 5 | p.Arg229del | chr1:25301569 |
|
|||
1:Weak Alleles | Type 31 | RHD*01W.31 RHD*weak D type 31 | c.17C>T | Exon 1 | p.Pro6Leu | chr1:25272564 | ||||
3:Null Alleles | Del | RHD*01EL.32 RHD*DEL32 | c.149-29G>C | Intron 1 | Intron polymorphism | chr1:25284544 | ||||
1:Weak Alleles | Type 32 | RHD*01W.32 RHD*weak D type 32 | c.1121T>A | Exon 8 | p.Ile374Asn | chr1:25317047 |
|
|||
4:Null Alleles | D- | RHD*01N.32 | c.78delC | Exon 1 | p.Leu27Serfs*12 | chr1:25272625 |
|
|||
0:Antigen Alleles | DVL2 | RHD*32 RHD*DVL2 | c.705_707delGAA | Exon 5 | p.Lys235del | chr1:25301590 |
|
|||
4:Null Alleles | D- | RHD*01N.33 | c.712delG | Exon 5 | p.Val238Cysfs*8 | chr1:25301597 |
|
|||
1:Weak Alleles | Type 33 | RHD*01W.33 RHD*weak D type 33 | c.520G>A | Exon 4 | p.Val174Met | chr1:25300979 | ||||
0:Antigen Alleles | DWI (DWLLE) | RHD*33 RHD*DWI | c.1073T>C | Exon 7 | p.Met358Thr | chr1:25306729 |
|
|||
3:Null Alleles | Del | RHD*01EL.33 RHD*DEL33 | c.336-2A>G | Intron 2 | Splice site mutation | chr1:25290639 | ||||
0:Antigen Alleles | DIM (DIleM) | RHD*34 RHD*DIM | c.854G>A | Exon 6 | p.Cys285Tyr | chr1:25303374 |
|
|||
4:Null Alleles | D- | RHD*01N.34 | c.615_616delCA | Exon 4 | p.Ser206Phefs*111 | chr1:25301074 |
|
|||
1:Weak Alleles | Type 34 | RHD*01W.34 RHD*weak D type 34 | c.809T>A | Exon 6 | p.Val270Glu | chr1:25303329 |
|
|||
4:Null Alleles | D- | RHD*01N.35 | c.330_331delGT | Exon 2 | p.Phe111Glnfs*48 | chr1:25284754 | ||||
3:Null Alleles | Del | RHD*01EL.35 RHD*DEL35 | c.802-38_35del | Intron 5 | Intron polymorphism | chr1:25303284 |
|
|||
0:Antigen Alleles | DMA | RHD*35 RHD*DMA | c.621G>C | Exon 4 | p.Leu207Phe | chr1:25301080 | ||||
1:Weak Alleles | Type 35 | RHD*01W.35 RHD*weak D type 35 | c.260G>A | Exon 2 | p.Gly87Asp | chr1:25284684 |
|
|||
3:Null Alleles | Del | RHD*01EL.36 RHD*DEL36 |
c.1227G>A c.1073+152C>A |
Intron 7
Exon 9 |
Splice site mutation |
chr1:25306881 chr1:25321962 |
|
|||
4:Null Alleles | D- | RHD*01N.36 | c.1080_1089delCTTCCAGGTC | Exon 8 | p.Phe361Serfs*12 | chr1:25317006 |
|
|||
1:Weak Alleles | Type 36 | RHD*01W.36 RHD*weak D type 36 | c.842T>G | Exon 6 | p.Val281Gly | chr1:25303362 |
|
|||
0:Antigen Alleles | DLO | RHD*36 RHD*DLO | c.851C>T | Exon 6 | p.Ser284Leu | chr1:25303371 | ||||
1:Weak Alleles | Type 37 | RHD*01W.37 RHD*weak D type 37 | c.399G>T | Exon 3 | p.Lys133Asn | chr1:25290704 |
|
|||
0:Antigen Alleles | DUC2 | RHD*37 RHD*DUC2 | c.733G>C | Exon 5 | p.Val245Leu | chr1:25301618 | ||||
4:Null Alleles | D- | RHD*01N.37 | c.297_319delCCAGTTCCCTTCTGGGAAGGTGG | Exon 2 | p.Gln100Hisfs*52 | chr1:25284721 |
|
|||
3:Null Alleles | Del | RHD*01EL.37 RHD*DEL37 | c.1154-31C>T | Intron 8 | Intron polymorphism | chr1:25321858 |
|
|||
4:Null Alleles | D- | RHD*01N.38 | c.939+2T>A | Intron 6 | Alternative splicing | chr1:25303461 |
|
|||
1:Weak Alleles | Type 38 | RHD*01W.38 RHD*weak D type 38 | c.833G>A | Exon 6 | p.Gly278Asp | chr1:25303353 | ||||
3:Null Alleles | Del | RHD*01EL.38 RHD*DEL38 | c.1010T>G | Exon 7 | p.Leu337Arg | chr1:25306666 |
|
|||
0:Antigen Alleles | DNT | RHD*38 RHD*DNT | c.455A>C | Exon 3 | p.Asn152Thr | chr1:25290760 | ||||
1:Weak Alleles | Type 30 | RHD*01W.30 RHD*weak D type 30 | c.1018_1019 delinsAT | Exon 7 | p.Glu340Met | chr1:25306674 |
|
|||
1:Weak Alleles | Type 39 | RHD*01W.39 RHD*weak D type 39 | c.1015G>A | Exon 7 | p.Gly339Arg | chr1:25306671 |
|
|||
0:Antigen Alleles | RHD(S103P) RH:─12 (G─) | RHD*39 | c.307T>C | Exon 2 | p.Ser103Pro | chr1:25284731 | ||||
3:Null Alleles | Del | RHD*01EL.39 RHD*DEL39 | c.113T>A | Exon 1 | p.Leu38* | chr1:25272660 |
|
|||
4:Null Alleles | D- | RHD*01N.39 | c.767C>G | Exon 5 | p.Ser256* | chr1:25301652 | ||||
3:Null Alleles | Del | RHD*01EL.40 RHD*DEL40 | c.278T>G | Exon 2 | p.Leu93Arg | chr1:25284702 |
|
|||
0:Antigen Alleles | D-SPM | RHD*40 RHD*D-SPM |
c.186G>T c.410C>T c.455A>C c.509T>C c.667T>G |
Exon 2
Exon 3 Exon 3 Exon 4 Exon 5 |
p.Leu62Phe p.Ala137Val p.Asn152Thr p.Met170Thr p.Phe223Val |
chr1:25284610 chr1:25290715 chr1:25290760 chr1:25300968 chr1:25301552 |
||||
1:Weak Alleles | Type 40 | RHD*01W.40 RHD*weak D type 40 | c.602C>G | Exon 4 | p.Thr201Arg | chr1:25301061 | ||||
4:Null Alleles | D- | RHD*01N.40 | c.1029C>A | Exon 7 | p.Tyr343* | chr1:25306685 |
|
|||
3:Null Alleles | Del | RHD*01EL.41 RHD*DEL41 | c.872C>G | Exon 6 | p.Pro291Arg | chr1:25303392 | ||||
0:Antigen Alleles | DBU | RHD*41 RHD*DBU |
c.667T>G c.676G>C c.697G>C c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G c.941G>T c.968C>A c.974G>T c.979A>G c.985G>C c.986G>A c.989A>C c.992A>T c.1025T>C c.1048G>C c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 |
p.Phe223Val p.Ala226Pro p.Glu233Gln p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys p.Gly314Val p.Pro323His p.Ser325Ile p.Ile327Val p.Gly329His p.Gly329His p.Tyr330Ser p.Asn331Ile p.Ile342Thr p.Asp350His silent p.Gly353Trp p.gly353Trp p.Ala354Asn p.Ala354Asn |
chr1:25301552 chr1:25301561 chr1:25301582 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 chr1:25306597 chr1:25306624 chr1:25306630 chr1:25306635 chr1:25306641 chr1:25306642 chr1:25306645 chr1:25306648 chr1:25306681 chr1:25306704 chr1:25306709 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 |
|
|
||
4:Null Alleles | D- | RHD*01N.41 | c.361_371delTTGTCGGTGCT | Exon 3 | p.Leu121Aspfs*35 | chr1:25290666 |
|
|||
1:Weak Alleles | Type 41 | RHD*01W.41 RHD*weak D type 41 | c.1193A>T | Exon 9 | p.Glu398Val | chr1:25321928 | ||||
1:Weak Alleles | Type 41.0.1 | RHD*01W.41.0.1 RHD*weak D type 41.0.1 |
c.1170T>C c.1193A>T |
Exon 9
Exon 9 |
p.Leu390Leu p.Glu398Val |
chr1:25321905 chr1:25321928 |
||||
1:Weak Alleles | Type 42 | RHD*01W.42 RHD*weak D type 42 | c.1226A>T | Exon 9 | p.Lys409Met | chr1:25321961 | ||||
0:Antigen Alleles | DCC | RHD*42 RHD*DCC | c.677C>A | Exon 5 | p.Ala226Asp | chr1:25301562 |
|
|||
4:Null Alleles | D- | RHD*01N.42 | CE exons1, 7-10 | Hybrid | ||||||
3:Null Alleles | Del | RHD*01EL.42 RHD*DEL42 |
c.335G>C c.149-29G>C |
Intron 1
Exon 2 |
p.Ser112Thr |
chr1:25284544 chr1:25284759 |
|
|||
3:Null Alleles | Del | RHD*01EL.43 RHD*DEL43 | c.46T>C | Exon 1 | p.Trp16Arg | chr1:25272593 |
|
|||
0:Antigen Alleles | DDN | RHD*43 RHD*DDN | c.490G>A | Exon 4 | p.Asp164Asn | chr1:25300949 |
|
|||
1:Weak Alleles | Type 43 | RHD*01W.43 RHD*weak D type 43 | c.605C>T | Exon 4 | p.Ala202Val | chr1:25301064 |
|
|||
4:Null Alleles | D- | RHD*01N.43 | CE exons 1-3 | Hybrid | ||||||
3:Null Alleles | Del | RHD*01EL.44 RHD*DEL44 | RHD-CE(4-9)- D | Hybrid allele | ||||||
1:Weak Alleles | Type 44 | RHD*01W.44 RHD*weak D type 44 | c.728A>G | Exon 5 | p.Tyr243Cys | chr1:25301613 | ||||
4:Null Alleles | D- | RHD*01N.44 | c.1228-1_1248delGTTTCCTCATTTGGCTGTTGGA | Intron 9 | p.? | chr1:25328897 |
|
|||
0:Antigen Alleles | DHQ | RHD*44 RHD*DHQ | c.513C>A | Exon 4 | p.His171Gln | chr1:25300972 |
|
|||
0:Antigen Alleles | DKK | RHD*45 RHD*DKK |
c.150T>C c.178A>C c.201G>A c.203G>A c.307T>C c.361T>A c.380T>C c.383A>G c.455A>C |
Exon 2
Exon 2 Exon 2 Exon 2 Exon 2 Exon 3 Exon 3 Exon 3 Exon 3 |
silent p.Ile60Leu silent p.Ser68Asn p.Ser103Pro p.Leu121Met p.Val127Ala p.Asp128Gly p.Asn152Thr |
chr1:25284574 chr1:25284602 chr1:25284625 chr1:25284627 chr1:25284731 chr1:25290666 chr1:25290685 chr1:25290688 chr1:25290760 |
||||
1:Weak Alleles | Type 45 | RHD*01W.45 RHD*weak D type 45 | c.1195G>A | Exon 9 | p.Ala399Thr | chr1:25321930 | ||||
4:Null Alleles | D- | RHD*01N.45 |
c.216_217dupCA c.1195G>A |
Exon 2
Exon 9 |
p.Ser73Thrfs*27 |
chr1:25284640 chr1:25321930 |
|
|
||
3:Null Alleles | Del | RHD*01EL.45 RHD*DEL45 | c.721A>C | Exon 5 | p.Thr241Pro | chr1:25301606 |
|
|||
1:Weak Alleles | Type45.1 | RHD*01W.45.1 RHD*weak D type 45.1 |
c.818C>T c.1195G>A |
Exon 6
Exon 9 |
p.Ala273Val p.Ala399Thr |
chr1:25303338 chr1:25321930 |
||||
1:Weak Alleles | Type45.2 | RHD*01W.45.2 RHD*weak D type 45.2 |
c.208C>T c.818C>T c.1195G>A |
Exon 2
Exon 6 Exon 9 |
p.Arg70Trp p.Ala273Val p.Ala399Thr |
chr1:25284632 chr1:25303338 chr1:25321930 |
||||
4:Null Alleles | D- | RHD*01N.46 | c.545_548delCTGT | Exon 4 | p.Ser182Trpfs*46 | chr1:25301004 |
|
|||
1:Weak Alleles | Type 46 | RHD*01W.46 RHD*weak D type 46 | c.1221C>A | Exon 9 | p.Phe407Leu | chr1:25321956 |
|
|||
0:Antigen Alleles | DLX | RHD*46 RHD*DLX |
c.667T>G c.712G>A c.733G>C c.744C>T c.787G>A c.800A>T c.916G>A c.932A>G |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 Exon 6 |
p.Phe223Val p.Val238Met p.Val245Leu silent p.Gly263Arg p.Lys267Met p.Val306Ile p.Tyr311Cys |
chr1:25301552 chr1:25301597 chr1:25301618 chr1:25301629 chr1:25301672 chr1:25301685 chr1:25303436 chr1:25303452 |
||||
3:Null Alleles | Del | RHD*01EL.46 RHD*DEL46 | c.884T>C | Exon 6 | p.Met295Thr | chr1:25303404 |
|
|||
0:Antigen Alleles | DMI | RHD*47 RHD* DMI | c.510G>A | Exon 4 | p.Met170Ile | chr1:25300969 |
|
|||
4:Null Alleles | D- | RHD*01N.47 | c.745_759delinsAG | Exon 5 | p.Val249Serfs*35 | chr1:25301630 |
|
|||
1:Weak Alleles | Type 47 | RHD*01W.47 RHD*weak D type 47 | c.340C>G | Exon 3 | p.Arg114Gly | chr1:25290645 |
|
|||
0:Antigen Alleles | DMI-1.1 | RHD*47.01 RHD*DMI-1.1 | c.510G>T | Exon 4 | p.Met170Ile | chr1:25300969 |
|
|||
1:Weak Alleles | Type 48 | RHD*01W.48 RHD*weak D type 48 | c.182G>T | Exon 2 | p.Gly61Val | chr1:25284606 | ||||
4:Null Alleles | D- | RHD*01N.48 | c.822delG | Exon 6 | p.Leu275Trpfs*13 | chr1:25303342 |
|
|||
0:Antigen Alleles | DNS | RHD*48 RHD*DNS | c.485A>G | Exon 3 | p.Asn162Ser | chr1:25290790 |
|
|||
1:Weak Alleles | Type 49 | RHD*01W.49 RHD*weak D type 49 | c.770C>T | Exon 5 | p.Ser257Phe | chr1:25301655 | ||||
4:Null Alleles | D- | RHD*01N.49 | c.915delC | Exon 6 | p.Val306Serfs*53 | chr1:25303435 |
|
|||
0:Antigen Alleles | DWN | RHD*49 RHD*DWN |
c.1053C>T c.1057G>G c.1059A>G c.1060G>A c.1061C>A |
Exon 7
Exon 7 Exon 7 Exon 7 Exon 7 |
silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn |
chr1:25306709 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 |
|
|
||
1:Weak Alleles | Type 50 | RHD*01W.50 RHD*weak D type 50 | c.727T>A | Exon 5 | p.Tyr243Asn | chr1:25301612 |
|
|||
4:Null Alleles | D- | RHD*01N.50 | c.93dupT | Exon 1 | p.Thr32Tyrfs*4 | chr1:25272640 |
|
|||
0:Antigen Alleles | RHD(A354T) | RHD*50 | c.1060G>A | Exon 7 | p.Ala354Thr | chr1:25306716 | ||||
0:Antigen Alleles | RHD(del44L) | RHD*51 | c.130_132delCTC | Exon 1 | p.Leu44del | chr1:25272677 |
|
|||
1:Weak Alleles | Type 51 | RHD*01W.51 RHD*weak D type 51 |
c.594A>T c.602C>G |
Exon 4
Exon 4 |
p.Lys198Asn p.Thr201Arg |
chr1:25301053 chr1:25301061 |
||||
4:Null Alleles | D- | RHD*01N.51 | c.950delA | Exon 7 | p.Asn317Thrfs*42 | chr1:25306606 |
|
|||
0:Antigen Alleles | RHD(F223S) | RHD*52 | c.668T>C | Exon 5 | p.Phe223Ser | chr1:25301553 |
|
|||
1:Weak Alleles | Type 52 | RHD*01W.52 RHD*weak D type 52 | c.92T>C | Exon 1 | p.Phe31Ser | chr1:25272639 |
|
|||
4:Null Alleles | D- | RHD*01N.52 | c.922G>T | Exon 6 | p.Gly308* | chr1:25303442 |
|
|||
0:Antigen Alleles | RHD(IVS2-2delA) | RHD*53 | c.336-2delA | Intron 2 | Splice site change | chr1:25290639 |
|
|||
4:Null Alleles | D- | RHD*01N.53 | c.1154G>A | Exon 9 | p.Gly385Asp | chr1:25321889 |
|
|||
1:Weak Alleles | Type 53 | RHD*01W.53 RHD*weak D type 53 | c.740T>G | Exon 5 | p.Val247Gly | chr1:25301625 |
|
|||
0:Antigen Alleles | RHD(IVS4-2A>C) | RHD*54 | c.635-2A>C | Intron 4 | Splice site change | chr1:25301518 |
|
|||
1:Weak Alleles | Type 54 | RHD*01W.54 RHD*weak D type 54 | c.365C>T | Exon 3 | p.Ser122Leu | chr1:25290670 | ||||
4:Null Alleles | D- | RHD*01N.54 | c.801+1G>A | Intron 5 | Alternative splicing | chr1:25301687 | ||||
1:Weak Alleles | Type 55 | RHD*01W.55 RHD*weak D type 55 | c.895C>G | Exon 6 | p.Leu299Val | chr1:25303415 | ||||
0:Antigen Alleles | RHD(L81P) | RHD*55 | c.242T>C | Exon 2 | p.Leu81Pro | chr1:25284666 |
|
|||
4:Null Alleles | D- | RHD*01N.55 | c.939+1G>A | Intron 6 | Alternative splicing | chr1:25303460 |
|
|||
4:Null Alleles | D- | RHD*01N.56 | c.1073+2T>C | Intron 7 | Alternative splicing | chr1:25306731 |
|
|||
1:Weak Alleles | Type 56 | RHD*01W.56 RHD*weak D type 56 | c.65C>A | Exon 1 | p.Ala22Glu | chr1:25272612 | ||||
0:Antigen Alleles | DBA | RHD*56 RHD*DBA | c.680T>C | Exon 5 | p.Leu227Pro | chr1:25301565 |
|
|||
0:Antigen Alleles | weak partial type 57 | RHD*57 RHD*weak partial 57 | c.640C>T | Exon 5 | p.Leu214Phe | chr1:25301525 | ||||
1:Weak Alleles | Type 57 | RHD*01W.57 RHD*weak D type 57 | c.640C>T | Exon 5 | p.Leu214Phe | chr1:25301525 | ||||
4:Null Alleles | D- Del | RHD*01N.57 | c.1010T>G | Exon 7 | p.Leu337Arg | chr1:25306666 |
|
|||
1:Weak Alleles | Type 58 | RHD*01W.58 RHD*weak D type 58 | c.1006G>C | Exon 7 | p.Gly336Arg | chr1:25306662 |
|
|||
0:Antigen Alleles | RHD*D-CE(7)-D | RHD*58 |
c.941G>T c.968C>A c.974G>T c.979A>G c.985G>C c.986G>A c.989A>C c.992A>T c.1025T>C c.1048G>C c.1053C>T c.1057G>T c.1059A>G c.1060G>A c.1061C>A |
Exon 7
Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 Exon 7 |
p.Gly314Val p.Pro323His p.Ser325Ile p.Ile327Val p.Gly329His p.Gly329His p.Tyr330Ser p.Asn331Ile p.Ile342Thr p.Asp350His silent p.Gly353Trp p.Gly353Trp p.Ala354Asn p.Ala354Asn |
chr1:25306597 chr1:25306624 chr1:25306630 chr1:25306635 chr1:25306641 chr1:25306642 chr1:25306645 chr1:25306648 chr1:25306681 chr1:25306704 chr1:25306709 chr1:25306713 chr1:25306715 chr1:25306716 chr1:25306717 |
|
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4:Null Alleles | D- | RHD*01N.58 |
c.802-41_802-38delCTCT c.1157T>A |
Intron 5
Exon 9 |
p.Leu386* |
chr1:25303281 chr1:25321892 |
|
|||
1:Weak Alleles | Type 59 | RHD*01W.59 RHD*weak D type 59 | c.1148T>C | Exon 8 | p.Leu383Pro | chr1:25317074 |
|
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4:Null Alleles | D- | RHD*01N.59 | c.598C>T | Exon 4 | p.Gln200* | chr1:25301057 |
|
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0:Antigen Alleles | RHD(F175L) | RHD*59 | c.525C>T | Exon 4 | p.Phe175Leu | chr1:25300984 | ||||
0:Antigen Alleles | weak Partial D | RHD*60 |
c.178A>C c.689G>T |
Exon 2
Exon 5 |
p.Ile60Leu p.Ser230Ile |
chr1:25284602 chr1:25301574 |
||||
1:Weak Alleles | Type 60 | RHD*01W.60 RHD*weak D type 60 | c.1219_1224delTTCTGG | Exon 9 | p.Phe407_Trp408del | chr1:25321954 |
|
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4:Null Alleles | D- | RHD*01N.60 | c.1213C>T | Exon 9 | p.Gln405* | chr1:25321948 |
|
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1:Weak Alleles | Type 61 | RHD*01W.61 RHD*weak D type 61 | c.28C>T | Exon 1 | p.Arg10Trp | chr1:25272575 | ||||
0:Antigen Alleles | weak Partial D | RHD*61 | c.492C>A | Exon 4 | p.Asp164Glu | chr1:25300951 |
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4:Null Alleles | D- | RHD*01N.62 | c.761C>G | Exon 5 | p.Ser254* | chr1:25301646 |
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0:Antigen Alleles | DNT(V270G) | RHD*62 |
c.455A>C c.809T>G |
Exon 3
Exon 6 |
p.Asn152Thr p.Val270Gly |
chr1:25290760 chr1:25303329 |
||||
1:Weak Alleles | Type 62 | RHD*01W.62 RHD*weak D type 62 | c.661C>A | Exon 5 | p.Pro221Thr | chr1:25301546 |
|
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4:Null Alleles | D- | RHD*01N.61 | c.952C>T | Exon 7 | p.Arg318* | chr1:25306608 | ||||
1:Weak Alleles | Type 63 | RHD*01W.63 RHD*weak D type 63 | c.758T>A | Exon 5 | p.Ile253Asn | chr1:25301643 |
|
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4:Null Alleles | D- | RHD*01N.63 | c.933C>G | Exon 6 | p.Tyr311* | chr1:25303453 |
|
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1:Weak Alleles | Type 64 | RHD*01W.64 RHD*weak D type 64 | c.881C>T | Exon 6 | p.Ala294Val | chr1:25303401 | ||||
4:Null Alleles | D- | RHD*01N.64 | c.1084C>T | Exon 8 | p.Gln362* | chr1:25317010 |
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4:Null Alleles | D- | RHD*01N.65 | c.124_125delAA | Exon 1 | p.Lys42Glyfs*117 | chr1:25272671 |
|
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1:Weak Alleles | Type 65 | RHD*01W.65 RHD*weak D type 65 | c.68C>A | Exon 1 | p.Ala23Asp | chr1:25272615 |
|
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1:Weak Alleles | Type 66 | RHD*01W.66 RHD*weak D type 66 | c.916G>A | Exon 6 | p.Val306Ile | chr1:25303436 | ||||
4:Null Alleles | D- | RHD*01N.66 | c.1174delA | Exon 9 | p.Ile392Tyrfs*25 | chr1:25321909 |
|
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4:Null Alleles | D- | RHD*01N.67 | RHD exon 1 deletion (intron breakpoints unknown) | p.0 | ||||||
1:Weak Alleles | Type 67 | RHD*01W.67 RHD*weak D type 67 | c.722C>T | Exon 5 | p.Thr241Ile | chr1:25301607 |
|
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4:Null Alleles | D- | RHD*01N.68 | c.335G>T | Exon 2 | p.Ser112Ile | chr1:25284759 | ||||
1:Weak Alleles | Type 68 | RHD*01W.68 RHD*weak D type 68 |
c.165C>T c.1213C>G |
Exon 2
Exon 9 |
silent p.Gln405Glu |
chr1:25284589 chr1:25321948 |
|
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4:Null Alleles | D- | RHD*01N.69 |
c.634+1G>T c.1136C>T |
Intron 4
Exon 8 |
Alternative splicing |
chr1:25301094 chr1:25317062 |
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1:Weak Alleles | Type 69 | RHD*01W.69 RHD*weak D type 69 | c.953G>A | Exon 7 | p.Arg318Gln | chr1:25306609 | ||||
1:Weak Alleles | Type 70 | RHD*01W.70 RHD*weak D type 70 | c.1012C>G | Exon 7 | p.Leu338Val | chr1:25306668 |
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4:Null Alleles | D- | RHD*01N.70 | c.1073+1G>T | Intron 7 | Alternative splicing | chr1:25306730 |
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4:Null Alleles | D- | RHD*01N.71 | c.1074-1G>A | Intron 7 | Alternative splicing | chr1:25316999 |
|
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1:Weak Alleles | Type 71 | RHD*01W.71 RHD*weak D type 71 | c.29G>C | Exon 1 | p.Arg10Pro | chr1:25272576 | ||||
1:Weak Alleles | Type 72 | RHD*01W.72 RHD*weak D type 72 | c.1212C>A | Exon 9 | p.Asp404Glu | chr1:25321947 | ||||
4:Null Alleles | D- | RHD*01N.72 |
c.361T>A c.380T>C c.383A>G c.455A>C c.602C>G c.667T>G c.819G>A |
Exon 3
Exon 3 Exon 3 Exon 3 Exon 4 Exon 5 Exon 6 |
p.Leu121Met p.Val127Ala p.Asp128Gly p.Asn152Thr p.Thr201Arg p.Phe223Leu silent |
chr1:25290666 chr1:25290685 chr1:25290688 chr1:25290760 chr1:25301061 chr1:25301552 chr1:25303339 |
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1:Weak Alleles | Type 73 | RHD* 01W.73 RHD*weak D type 73 | c.1241C>T | Exon 10 | p.Ala414Val | chr1:25328911 |
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4:Null Alleles | D- | RHD*01N.73 | c.443C>G | Exon 3 | p.Thr148Arg | chr1:25290748 | ||||
1:Weak Alleles | Type 74 | RHD* 01W.74 RHD*weak D type 74 | c.203G>C | Exon 2 | p.Ser68Thr | chr1:25284627 |
|
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4:Null Alleles | D- | RHD*01N.74 | c.424_426delATG | Exon 3 | p.Met142del | chr1:25290729 |
|
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4:Null Alleles | D- | RHD*01N.75 | c.581_582insG | Exon 4 | p.Thr195Asnfs*4 | chr1:25301040 |
|
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1:Weak Alleles | Type 75 | RHD* 01W.75 RHD*weak D type 75 | c.1194G>C | Exon 9 | p.Glu398Asp | chr1:25321929 |
|
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1:Weak Alleles | Type 76 | RHD* 01W.76 RHD*weak D type 76 | c.1215A>C | Exon 9 | p.Gln405His | chr1:25321950 | ||||
4:Null Alleles | D- | RHD*01N.76 | c.1179G>A | Exon 9 | p.Trp393* | chr1:25321914 |
|
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1:Weak Alleles | Type 77 | RHD* 01W.77 RHD*weak D type 77 | c.766T>C | Exon 5 | p.Ser256Pro | chr1:25301651 |
|
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4:Null Alleles | D- | RHD*01N.77 | c.1228-1G>A | Intron 9 | Alternative splicing | chr1:25328897 |
|
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4:Null Alleles | D- | RHD*01N.78 | c.659delG | Exon 5 | p.Trp220Cysfs*9 | chr1:25301544 |
|
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1:Weak Alleles | Type 78 | RHD* 01W.78 RHD*weak D type 78 | c.1228T>G | Exon 10 | p.Phe410Val | chr1:25328898 |
|
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4:Null Alleles | D- | RHD*01N.79 | c.896T>C | Exon 6 | p.Leu299Pro | chr1:25303416 |
|
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1:Weak Alleles | Type 79 | RHD* 01W.79 RHD*weak D type 79 | c.560T>C | Exon 4 | p.Leu187Pro | chr1:25301019 |
|
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1:Weak Alleles | Type 80 | RHD* 01W.80 RHD*weak D type 80 | c.539G>A | Exon 4 | p.Gly180Glu | chr1:25300998 |
|
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4:Null Alleles | D- | RHD*01N.80 | c.1007G>A | Exon 7 | p.Gly336Asp | chr1:25306663 | ||||
4:Null Alleles | D- | RHD*01N.81 | c.1074-2A>C | Intron 7 | Alternative splicing | chr1:25316998 |
|
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1:Weak Alleles | Type 81 | RHD* 01W.81 RHD*weak D type 81 | c.1199A>C | Exon 9 | p.Lys400Thr | chr1:25321934 |
|
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4:Null Alleles | D- | RHD*01N.82 | c.697delG | Exon 5 | p.Glu 233Lysfs*13 | chr1:25301582 |
|
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1:Weak Alleles | Type 82 | RHD* 01W.82 RHD*weak D type 82 | c.1184C>T | Exon 9 | p.Ala395Val | chr1:25321919 | ||||
1:Weak Alleles | Type 83 | RHD* 01W.83 RHD*weak D type 83 | c.1238T>G | Exon 10 | p.Leu413Trp | chr1:25328908 |
|
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4:Null Alleles | D- | RHD*01N.83 | c.702delG | Exon 5 | p.Lys 235Argfs*11 | chr1:25301587 |
|
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1:Weak Alleles | Type 84 | RHD* 01W.84 RHD*weak D type 84 | c.227G>A | Exon 2 | p.Ser76Asn | chr1:25284651 |
|
|||
1:Weak Alleles | Type 85 | RHD* 01W.85 RHD*weak D type 85 | c.209G>A | Exon 2 | p.Arg70Gln | chr1:25284633 | ||||
1:Weak Alleles | Type 86 | RHD* 01W.86 RHD*weak D type 86 | c.1034T>A | Exon 7 | p.Val345Glu | chr1:25306690 | ||||
1:Weak Alleles | Type 87 | RHD* 01W.87 RHD*weak D type 87 | c.374T>A | Exon 3 | p.Ile125Asn | chr1:25290679 |
|
|||
1:Weak Alleles | Type 88 | RHD* 01W.88 RHD*weak D type 88 | c.182G>C | Exon 2 | p.Gly61Ala | chr1:25284606 | ||||
1:Weak Alleles | Type 89 | RHD* 01W.89 RHD*weak D type 89 | c.67G>C | Exon 1 | p.Ala23Pro | chr1:25272614 |
|
|||
1:Weak Alleles | Type 90 | RHD* 01W.90 RHD*weak D type 90 | c.993C>G | Exon 7 | p.Asn331Lys | chr1:25306649 | ||||
1:Weak Alleles | Type 91 | RHD* 01W.91 RHD*weak D type 91 | c.1187C>G | Exon 9 | p.Pro396Arg | chr1:25321922 | ||||
1:Weak Alleles | Type 92 | RHD* 01W.92 RHD*weak D type 92 | c.1145T>C | Exon 8 | p.Leu382Pro | chr1:25317071 |
|
|||
1:Weak Alleles | Type 93 | RHD* 01W.93 RHD*weak D type 93 | c.359C>A | Exon 3 | p.Ala120Asp | chr1:25290664 |
|
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1:Weak Alleles | Type 94 | RHD* 01W.94 RHD*weak D type 94 | c.884T>C | Exon 6 | p.Met295Thr | chr1:25303404 |
|
|||
1:Weak Alleles | Type 95 | RHD* 01W.95 RHD*weak D type 95 | c.730G>C | Exon 5 | p.Ala244Pro | chr1:25301615 |
|
|||
1:Weak Alleles | Type 96 | RHD* 01W.96 RHD*weak D type 96 | c.731C>T | Exon 5 | p.Ala244Val | chr1:25301616 | ||||
1:Weak Alleles | Type 97 | RHD* 01W.97 RHD*weak D type 97 | c.542T>C | Exon 4 | p.Leu181Pro | chr1:25301001 | ||||
1:Weak Alleles | Type 98 | RHD* 01W.98 RHD*weak D type 98 | c.751A>C | Exon 5 | p.Thr251Pro | chr1:25301636 |
|
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1:Weak Alleles | Type 99 | RHD* 01W.99 RHD*weak D type 99 | c.1107A>C | Exon 8 | p.Glu369Asp | chr1:25317033 |
|
|||
1:Weak Alleles | Type 100 | RHD* 01W.100 RHD*weak D type 100 | c.787G>A | Exon 5 | p.Glu263Arg | chr1:25301672 | ||||
1:Weak Alleles | Type 101 | RHD* 01W.101 RHD*weak D type 101 | c.62A>C | Exon 1 | p.Glu21Ala | chr1:25272609 |
|
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1:Weak Alleles | Type 102 | RHD* 01W.102 RHD*weak D type 102 | c.73A>T | Exon 1 | p.Ile25Phe | chr1:25272620 | ||||
1:Weak Alleles | Type 103 | RHD* 01W.103 RHD*weak D type 103 | c.91T>A | Exon 1 | p.Phe31Ile | chr1:25272638 |
|
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1:Weak Alleles | Type 104 | RHD* 01W.104 RHD*weak D type 104 | c.157G>T | Exon 2 | p.Asp53Tyr | chr1:25284581 |
|
|||
1:Weak Alleles | Type 105 | RHD* 01W.105 RHD*weak D type 105 | c.200C>G | Exon 2 | p.Ser67Trp | chr1:25284624 |
|
|||
1:Weak Alleles | Type 106 | RHD* 01W.106 RHD*weak D type 106 | c.220T>G | Exon 2 | p.Trp74Gly | chr1:25284644 |
|
|||
1:Weak Alleles | Type 107 | RHD* 01W.107 RHD*weak D type 107 | c.223A>T | Exon 2 | p.Ser75Cys | chr1:25284647 |
|
|||
1:Weak Alleles | Type 108 | RHD* 01W.108 RHD*weak D type 108 | c.287G>A | Exon 2 | p.Gly96Asp | chr1:25284711 | ||||
1:Weak Alleles | Type 109 | RHD* 01W.109 RHD*weak D type 109 | c.376T>C | Exon 3 | p.Ser126Pro | chr1:25290681 |
|
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1:Weak Alleles | Type 110 | RHD* 01W.110 RHD*weak D type 110 | c.413A>G | Exon 3 | p.Gln138Arg | chr1:25290718 |
|
|||
1:Weak Alleles | Type 111 | RHD* 01W.111 RHD*weak D type 111 | c.634G>A | Exon 4 | p.Gly212Ser | chr1:25301093 |
|
|||
1:Weak Alleles | Type 112 | RHD* 01W.112 RHD*weak D type 112 | c.635G>A | Exon 5 | p.Gly212Asp | chr1:25301520 |
|
|||
1:Weak Alleles | Type 113 | RHD* 01W.113 RHD*weak D type 113 | c.874T>C | Exon 6 | p.Trp292Arg | chr1:25303394 |
|
|||
1:Weak Alleles | Type 114 | RHD* 01W.114 RHD*weak D type 114 | c.968C>T | Exon 7 | p.Pro323Leu | chr1:25306624 |
|
|||
1:Weak Alleles | Type 115 | RHD* 01W.115 RHD*weak D type 115 | c.983T>A | Exon 7 | p.Met328Lys | chr1:25306639 |
|
|||
1:Weak Alleles | Type 116 | RHD* 01W.116 RHD*weak D type 116 | c.346G>C | Exon 3 | p.Ala116Pro | chr1:25290651 |
|
|||
1:Weak Alleles | Type 117 | RHD* 01W.117 RHD*weak D type 117 | c.346G>A | Exon 3 | p.Ala116Thr | chr1:25290651 |
|
|||
1:Weak Alleles | Type 118 | RHD* 01W.118 RHD*weak D type 118 | c.347C>T | Exon 3 | p.Ala116Val | chr1:25290652 |
|
|||
1:Weak Alleles | Type 119 | RHD* 01W.119 RHD*weak D type 119 | c.818C>T | Exon 6 | p.Ala273Val | chr1:25303338 | ||||
1:Weak Alleles | Type 120 | RHD* 01W.120 RHD*weak D type 120 | c.818C>A | Exon 6 | p.Ala273Glu | chr1:25303338 |
|
|||
1:Weak Alleles | Type 121 | RHD* 01W.121 RHD*weak D type 121 | c.176C>A | Exon 2 | p.Ala59Asp | chr1:25284600 |
|
|||
1:Weak Alleles | Type 122 | RHD* 01W.122 RHD*weak D type 122 | c.208C>T | Exon 2 | p.Arg70Trp | chr1:25284632 | ||||
1:Weak Alleles | Type 123 | RHD* 01W.123 RHD*weak D type 123 | c.379G>T | Exon 3 | p.Val127Leu | chr1:25290684 |
|
|||
1:Weak Alleles | Type 124 | RHD* 01W.124 RHD*weak D type 124 | c.594A>T | Exon 4 | p.Lys198Asn | chr1:25301053 | ||||
1:Weak Alleles | Type 125 | RHD* 01W.125 RHD*weak D type 125 | c.671A>G | Exon 5 | p.Asn224Ser | chr1:25301556 | ||||
1:Weak Alleles | Type 126 | RHD* 01W.126 RHD*weak D type 126 | c.1199A>T | Exon 9 | p.Lys400Ile | chr1:25321934 | ||||
1:Weak Alleles | Type 127 | RHD* 01W.127 RHD*weak D type 127 | c.1200A>T | Exon 9 | p.Lys400Asn | chr1:25321935 |
|
|||
1:Weak Alleles | Type 128 | RHD* 01W.128 RHD*weak D type 128 | c.1207G>T | Exon 9 | p.Asp403Tyr | chr1:25321942 |
|
|||
1:Weak Alleles | Type 129 | RHD* 01W.129 RHD*weak D type 129 | c.1208A>T | Exon 9 | p.Asp403Val | chr1:25321943 |
|
|||
1:Weak Alleles | Type 130 | RHD* 01W.130 RHD*weak D type 130 | c.163A>C | Exon 2 | p.Thr55Pro | chr1:25284587 |
|
|||
1:Weak Alleles | Type 131 | RHD* 01W.131 RHD*weak D type 131 | c.254C>G | Exon 2 | p.Ala85Gly | chr1:25284678 | ||||
1:Weak Alleles | Type 132 | RHD* 01W.132 RHD*weak D type 132 | c.394G>A | Exon 3 | p.Gly132Arg | chr1:25290699 |
|
|||
1:Weak Alleles | Type 133 | RHD* 01W.133 RHD*weak D type 133 | c.395G>A | Exon 3 | p.Gly132Glu | chr1:25290700 |
|
|||
1:Weak Alleles | Type 134 | RHD* 01W.134 RHD*weak D type 134 | c.1168C>G | Exon 9 | p.Leu390Val | chr1:25321903 |
|
|||
1:Weak Alleles | Type 135 | RHD* 01W.135 RHD*weak D type 135 | c.884T>A | Exon 6 | p.Met295Lys | chr1:25303404 |
|
|||
1:Weak Alleles | Type 136 | RHD* 01W.136 RHD*weak D type 136 | c.41C>T | Exon 1 | p.Pro14Leu | chr1:25272588 |
|
|||
1:Weak Alleles | Type 137 | RHD* 01W.137 RHD*weak D type 137 | c.780C>A | Exon 5 | p.His260Gln | chr1:25301665 | ||||
1:Weak Alleles | Type 138 | RHD* 01W.138 RHD*weak D type 138 | c.871C>T | Exon 6 | p.Pro291Ser | chr1:25303391 |
|
|||
1:Weak Alleles | Type 139 | RHD* 01W.139 RHD*weak D type 139 | c.1169T>C | Exon 9 | p.Leu390Pro | chr1:25321904 |
|
|||
1:Weak Alleles | Type 140 | RHD* 01W.140 RHD*weak D type 140 | c.1229T>C | Exon 10 | p.Phe410Ser | chr1:25328899 |
|
|||
1:Weak Alleles | Type 141 | RHD* 01W.141 RHD*weak D type 141 | c.668T>C | Exon 5 | p.Phe223Ser | chr1:25301553 |
|
|||
1:Weak Alleles | Type 142 | RHD* 01W.142 RHD*weak D type 142 | c.67G>T | Exon 1 | p.Ala23Ser | chr1:25272614 |
|
|||
1:Weak Alleles | Type 143 | RHD* 01W.143 RHD*weak D type 143 | c.173C>T | Exon 2 | p.Ala58Val | chr1:25284597 | ||||
1:Weak Alleles | Type 144 | RHD* 01W.144 RHD*weak D type 144 | c.579G>C | Exon 4 | p.Glu193Asp | chr1:25301038 | ||||
1:Weak Alleles | Type 145 | RHD* 01W.145 RHD*weak D type 145 | c.41C>G | Exon 1 | p.Pro14Arg | chr1:25272588 |
|
Loading Data ... |
allele_category | Phenotype | Allele Name | Nucleotide Changes |
Exon | Amino Acid Changes |
hg38 | gnomAD | rsNum | GenBank | Reference |
---|---|---|---|---|---|---|---|---|---|---|
0.1:ce Alleles | RH:4 or c RH:5 or e RH:6 or f (ce) | RHCE*01 or RHCE*ce RHCE*c RHCE*e |
c.307C c.676G |
p.Pro103 p.Ala226 |
||||||
0.1:ce Alleles | RHCE*01.01 RHCE*ce.01 | c.48G>C | Exon 1 | p.Trp16Cys | chr1:25420739 |
|
||||
0.1:ce Alleles | partial e partial c | RHCE*01.02.01 RHCE*ce.02.01 |
c.48G>C c.1025C>T |
Exon 1
Exon 7 |
p.Trp16Cys p.Thr342Ile |
chr1:25420739 chr1:25385759 |
|
|||
0.1:ce Alleles | RHCE*01.02.02 RHCE*ce.02.02 |
c.48G>C c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T c.1025C>T |
Exon 1
Exon 2 Exon 2 Exon 2 Exon 2 Exon 2 Exon 7 |
p.Trp16Cys silent p.Leu60Ile silent p.Asn68Ser p.Pro103Ser p.Thr342Ile |
chr1:25420739 chr1:25408868 chr1:25408840 chr1:25408817 chr1:25408815 chr1:25408711 chr1:25385759 |
|
||||
0.1:ce Alleles | partial e | RHCE*01.03 RHCE*ce.03 | c.1025C>T | Exon 7 | p.Thr342Ile | chr1:25385759 | ||||
0.1:ce Alleles | RH:10,─20 (V+wVS-) RH:─19 (hrS- ) partial e partial c | RHCE*01.04.01 RHCE*ce.04.01 |
c.48G>C c.712A>G c.733C>G c.787A>G c.800T>A c.916A>G |
Exon 1
Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 |
p.Trp16Cys p.Met238Val p.Leu245Val p.Arg263Gly p.Met267Lys p.Ile306Val |
chr1:25420739 chr1:25390838 chr1:25390817 chr1:25390763 chr1:25390750 chr1:25388999 |
|
|||
0.1:ce Alleles | partial e | RHCE*01.04.02 RHCE*ce.04.02 |
c.48G>C c.697C>G c.712A>G c.733C>G c.787A>G c.800T>A c.916A>G |
Exon 1
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 |
p.Trp16Cys p.Gln233Glu p.Met238Val p.Leu245Val p.Arg263Gly p.Met267Lys p.Ile306Val |
chr1:25420739 chr1:25390853 chr1:25390838 chr1:25390817 chr1:25390763 chr1:25390750 chr1:25388999 |
|
|||
0.1:ce Alleles | RHCE*01.04.03 RHCE*ce.04.03 |
c.48G>C c.455C>A c.712A>G c.733C>G c.787A>G c.800T>A c.916A>G |
Exon 1
Exon 3 Exon 5 Exon 5 Exon 5 Exon 5 Exon 6 |
p.Trp16Cys p.Thr152Asn p.Met238Val p.Leu245Val p.Arg263Gly p.Met267Lys p.Ile306Val |
chr1:25420739 chr1:25402627 chr1:25390838 chr1:25390817 chr1:25390763 chr1:25390750 chr1:25388999 |
|
||||
0.1:ce Alleles | RH:─19 (hrS- ) partial e partial c | RHCE*01.05.01 RHCE*ce.05.01 |
c.48G>C c.712A>G c.787A>G c.800T>A |
Exon 1
Exon 5 Exon 5 Exon 5 |
p.Trp16Cys p.Met238Val p.Arg263Gly p.Met267Lys |
chr1:25420739 chr1:25390838 chr1:25390763 chr1:25390750 |
|
|||
0.1:ce Alleles | RH:─59 (CEAG-) RH:─31 (hrB- ) partial e | RHCE*01.06.01 RHCE*ce.06.01 | c.254C>G | Exon 2 | p.Ala85Gly | chr1:25408764 | ||||
0.1:ce Alleles | Not tested V and VS not informative | RHCE*01.06.02 RHCE*ce.06.02 |
c.254C>G c.733C>G |
Exon 2
Exon 5 |
p.Ala85Gly p.Leu245Val |
chr1:25408764 chr1:25390817 |
||||
0.1:ce Alleles | Not tested | RHCE*01.06.03 RHCE*ce.06.03 |
c.254C>G c.733C>G c.941T>C |
Exon 2
Exon 5 Exon 7 |
p.Ala85Gly p.Leu245Val p.Val314Ala |
chr1:25408764 chr1:25390817 chr1:25385843 |
||||
0.1:ce Alleles | RHCE*01.06.04 RHCE*ce.06.04 |
c.254C>G c.697C>G |
Exon 2
Exon 5 |
p.Ala85Gly p.Gln233Glu |
chr1:25408764 chr1:25390853 |
|||||
0.1:ce Alleles | RH:2 (partial C+) e+ | RHCE*01.06.05 RHCE*ce.06.05 |
c.254C>G c.307C>T |
Exon 2
Exon 2 |
p.Ala85Gly p.Pro103Ser |
chr1:25408764 chr1:25408711 |
||||
0.1:ce Alleles | RH:─19 (hrS- ) RH:─31 (hrB- ) RH: ─61 (CEVF-) partial e partial c | RHCE*01.07.01 RHCE*ce.07.01 |
c.48G>C c.667G>T |
Exon 1
Exon 5 |
p.Trp16Cys p.Val223Phe |
chr1:25420739 chr1:25390883 |
|
|||
0.1:ce Alleles | RH:─19 (hrS- ) RH:─31 (hrB- ) RH: ─61 (CEVF-) partial e partial c | RHCE*01.07.02 RHCE*ce.07.02 | c.667G>T | Exon 5 | p.Val223Phe | chr1:25390883 | ||||
0.1:ce Alleles | RH:─19 (hrS-) RH:49 (STEM+) e+/- | RHCE*01.08 RHCE*ce.08 |
c.48G>C c.712A>G c.818C>T c.1132C>G |
Exon 1
Exon 5 Exon 6 Exon 8 |
p.Trp16Cys p.Met238Val p.Ala273Val p.Leu378Val |
chr1:25420739 chr1:25390838 chr1:25389097 chr1:25375370 |
|
|||
0.1:ce Alleles | RH:─19 (hrS- ) Rh:49+w (STEM+w) e+/- | RHCE*01.09 RHCE*ce.09 |
c.48G>C c.712A>G c.818C>T |
Exon 1
Exon 5 Exon 6 |
p.Trp16Cys p.Met238Val p.Ala273Val |
chr1:25420739 chr1:25390838 chr1:25389097 |
|
|||
0.1:ce Alleles | e+w weak reactivity with some anti-D monoclonal | RHCE*01.10.01 RHCE*ce.10.01 |
c.48G>C c.365C>T |
Exon 1
Exon 3 |
p.Trp16Cys p.Ser122Leu |
chr1:25420739 chr1:25402717 |
|
|||
0.1:ce Alleles | e+w | RHCE*01.10.02 RHCE*ce.10.02 | c.365C>T | Exon 3 | p.Ser122Leu | chr1:25402717 | ||||
0.1:ce Alleles | e+w | RHCE*01.11 RHCE*ce.11 | c.461G>C | Exon 3 | p.Arg154Thr | chr1:25402621 |
|
|||
0.1:ce Alleles | e+w | RHCE*01.12 RHCE*ce.12 |
c.48G>C c.538G>C |
Exon 1
Exon 4 |
p.Trp16Cys p.Gly180Arg |
chr1:25420739 chr1:25392090 |
|
|||
0.1:ce Alleles | e+w, RH:58 (CELO+w) | RHCE*01.13 RHCE*ce.13 | c.685_687delAGA | Exon 5 | p.Arg229del | chr1:25390865 |
|
|||
0.1:ce Alleles | e+w, c+w RH:36 (Be(a+)) | RHCE*01.14 RHCE*ce.14 | c.662C>G | Exon 5 | p.Pro221Arg | chr1:25390888 | ||||
0.1:ce Alleles | c+w,e+w RH:55 (LOCR+) RH:-26 | RHCE*01.15 RHCE*ce.15 | c.286G>A | Exon 2 | p.Gly96Ser | chr1:25408732 | ||||
0.1:ce Alleles | e+ | RHCE*01.16 RHCE*ce.16 |
c.48G>C c.1170C>T c.1193T>A |
Exon 1
Exon 9 Exon 9 |
p.Trp16Cys silent p.Val398Glu |
chr1:25420739 chr1:25370524 chr1:25370501 |
|
|||
0.1:ce Alleles | partial e partial c RH:10,20 (V+VS+) RH:31 weak to neg (hrB+vw/-) | RHCE*01.20.01 RHCE*ce.20.01 RHCE*ceVS.01 | c.733C>G | Exon 5 | p.Leu245Val | chr1:25390817 | ||||
0.1:ce Alleles | partial e partial c RH:10,20 (V+VS+) RH:─31 (hrB-) | RHCE*01.20.02 RHCE*ce.20.02 RHCE*ceVS.02 |
c.48G>C c.733C>G |
Exon 1
Exon 5 |
p.Trp16Cys p.Leu245Val |
chr1:25420739 chr1:25390817 |
|
|||
0.1:ce Alleles | partial e partial c RH:─10,20 (V─VS+) RH:─31 (hrB-) | RHCE*01.20.03 RHCE*ce.20.03 RHCE*ceVS.03 |
c.48G>C c.733C>G c.1006G>T |
Exon 1
Exon 5 Exon 7 |
p.Trp16Cys p.Leu245Val p.Gly336Cys |
chr1:25420739 chr1:25390817 chr1:25385778 |
|
|||
0.1:ce Alleles | partial e RH:10,20 (V+VS+) Probable RH:─31 (hrB- ) | RHCE*01.20.04.01 RHCE*ce.20.04.01 RHCE*ceVS.04.01 |
c.48G>C c.733C>G c.1025C>T |
Exon 1
Exon 5 Exon 7 |
p.Trp16Cys p.Leu245Val p.Thr342Ile |
chr1:25420739 chr1:25390817 chr1:25385759 |
|
|||
0.1:ce Alleles | RHCE*01.20.04.02 RHCE*ce.20.04.02 RHCE*ceVS.04.02 |
c.48G>C c.105C>T c.733C>G c.744T>C c.1025C>T |
Exon 1
Exon 1 Exon 5 Exon 5 Exon 7 |
p.Trp16Cys silent p.Leu245Val silent p.Thr342Ile |
chr1:25420739 chr1:25420682 chr1:25390817 chr1:25390806 chr1:25385759 |
|
||||
0.1:ce Alleles | partial e RH:─10,20 (V-VS+) RH:-31 | RHCE*01.20.05 RHCE*ce.20.05 RHCE*ceVS.05 |
c.733C>G c.1006G>T |
Exon 5
Exon 7 |
p.Leu245Val p.Gly336Cys |
chr1:25390817 chr1:25385778 |
||||
0.1:ce Alleles | partial c partial e RH:43 (Crawford+) RH:20 (VS+) RH:-19,-31 RH:─58 (CELO-) moderate to strongly reactive with some monoclonal anti-D | RHCE*01.20.06 RHCE*ce.20.06 RHCE*ceVS.06 |
c.48G>C c.697C>G c.733C>G |
Exon 1
Exon 5 Exon 5 |
p.Trp16Cys p.Gln233Glu p.Leu245Val |
chr1:25420739 chr1:25390853 chr1:25390817 |
|
|||
0.1:ce Alleles | partial e partial c RH:48,(JAL+) RH:─57 (CEST-) RH:20(V/VS+ w) RH:19(hrS+w/ -) RH:31(hrB+w/ ─) | RHCE*01.20.07 RHCE*ce.20.07 RHCE*ceVS.07 |
c.340C>T c.733C>G |
Exon 3
Exon 5 |
p.Arg114Trp p.Leu245Val |
chr1:25402742 chr1:25390817 |
||||
0.1:ce Alleles | e+w RH:10,20 (V+VS+) Probable RH:─31 (hrB-) | RHCE*01.20.08 RHCE*ce.20.08 RHCE*ceVS.08 |
c.48G>C c.733C>G c.748G>A |
Exon 1
Exon 5 Exon 5 |
p.Trp16Cys p.Leu245Val p.Val250Met |
chr1:25420739 chr1:25390817 chr1:25390802 |
|
|||
0.1:ce Alleles | e+w RH:-10,20 (V-VS+) RH:31 (hrB+w) | RHCE*01.20.09 RHCE*ce.20.09 RHCE*ceVS.09 |
c.48G>C c.733C>G c.941T>C |
Exon 1
Exon 5 Exon 7 |
p.Trp16Cys p.Leu245Val p.Val314Ala |
chr1:25420739 chr1:25390817 chr1:25385843 |
|
|||
0.1:ce Alleles | probable partial e and partial c | RHCE*01.20.10 RHCE*ce.20.10 RHCE*ceVS.10 |
c.48G>C c.712A>G c.733C>G |
Exon 1
Exon 5 Exon 5 |
p.Trp16Cys p.Met238Val p.Leu245Val |
chr1:25420739 chr1:25390838 chr1:25390817 |
|
|||
0.1:ce Alleles | RHCE*01.20.11 RHCE*ce.20.11 RHCE*ceVS.11 |
c.48G>C exons 2-3 D c.186G>T c.410C>T c.455A>C c.733C>G c.1006G>T |
Exon 1
Exon 2 Exon 3 Exon 3 Exon 5 Exon 7 |
p.Trp16Cys p.Leu62Phe p.Ala137Val p.Asn152Thr p.Leu245Val p.Gly336Cys |
chr1:25420739 chr1:25408832 chr1:25402672 chr1:25402627 chr1:25390817 chr1:25385778 |
|
|
|||
0.1:ce Alleles | e+w RH:48 (JAL+) | RHCE*01.21.01 RHCE*ce.21.01 | c.341G>A | Exon 3 | p.Arg114Gln | chr1:25402741 | ||||
0.1:ce Alleles | e+w RH:48 (JAL+) | RHCE*01.21.02 RHCE*ce.21.02 |
c.48G>C c.187G>C c.341G>A |
Exon 1
Exon 2 Exon 3 |
p.Trp16Cys p.Gly63Arg p.Arg114Gln |
chr1:25420739 chr1:25408831 chr1:25402741 |
|
|
||
0.1:ce Alleles | e+w strongly D+ with some monoclonal anti-D RH:33(DHAR +) RH:50 (FPPT+) | RHCE*01.22 RHCE*ce.22 |
c.667G>T c.697C>G c.712A>G c.733C>G c.744T>C c.787A>G c.800T>A |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Val223Phe p.Gln233Glu p.Met238Val p.Leu245Val silent p.Arg263Gly p.Met267Lys |
chr1:25390883 chr1:25390853 chr1:25390838 chr1:25390817 chr1:25390806 chr1:25390763 chr1:25390750 |
||||
0.1:ce Alleles | e+w | RHCE*01.23 RHCE*ce.23 | c.649T>C | Exon 5 | p.Trp217Arg | chr1:25390901 |
|
|||
0.1:ce Alleles | e+w | RHCE*01.24 RHCE*ce.24 | c.512A>G | Exon 4 | p.His171Arg | chr1:25392116 | ||||
0.1:ce Alleles | e+w | RHCE*01.25 RHCE*ce.25 | c.730G>A | Exon 5 | p.Ala244Thr | chr1:25390820 | ||||
0.1:ce Alleles | e+w | RHCE*01.26 RHCE*ce.26 | c.872C>T | Exon 6 | p.Pro291Leu | chr1:25389043 | ||||
0.1:ce Alleles | e+w | RHCE*01.27 RHCE*ce.27 | c.1154G>C | Exon 9 | p.Gly385Ala | chr1:25370540 |
|
|||
0.1:ce Alleles | c+w | RHCE*01.28 RHCE*ce.28 | c.1254A>C | Exon 10 | p.Ter418Tyr | chr1:25362527 |
|
|||
0.1:ce Alleles | c+e- | RHCE*01.29 RHCE*ce.29 | RHD exons 4-9 | RHCE*ce-D(4- 9)-ce | ||||||
0.1:ce Alleles | e+W | RHCE*01.30 RHCE*ce30 | c.526G>A | Exon 4 | p.Ala176Thr | chr1:25392102 | ||||
0.1:ce Alleles | RHCE*01.31 RHCE*ce31 | c.695T>C | Exon 5 | p.Ile232Thr | chr1:25390855 |
|
||||
0.1:ce Alleles | RHCE*01.32 RHCE*ce32 | c.827C>A | Exon 6 | p.Ala276Gln | chr1:25389088 |
|
||||
0.1:ce Alleles | partial e e+w/- RH:-31 (hrB-) | RHCE*01.33 RHCE*ce33 | c.506T>C | Exon 4 | p.Leu169Pro | chr1:25392122 |
|
|||
0.1:ce Alleles | partial c+e- | RHCE*01.34 RHCE*ce34 | RHD exons 4-7 | NA | ||||||
0.1:ce Alleles | c+ e+ | RHCE*01.35 RHCE*ce35 | c.202A>G | Exon 2 | p.Asn68Asp | chr1:25408816 | ||||
0.1:ce Alleles | c- | RHCE*01.36 RHCE*ce36 | c.307C>T | Exon 2 | p.Pro103Ser | chr1:25408711 | ||||
0.1:ce Alleles | c+ e+ | RHCE*01.37 RHCE*ce37 |
c.697C>G c.712A>G c.733C>G c.744T>C |
Exon 5
Exon 5 Exon 5 Exon 5 |
p.Gln233Glu p.Met238Val p.Leu245Val p.Ser248Ser |
chr1:25390853 chr1:25390838 chr1:25390817 chr1:25390806 |
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0.1:ce Alleles | e+W | RHCE*01.38 RHCE*ce38 | c.1-10C>T | promoter region | chr1:25420796 |
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0.1:ce Alleles | C+w c- | RHCE*01.39 RHCE*ce39 | c.308C>T | Exon 2 | p.Pro103Leu | chr1:25408710 | ||||
0.1:ce Alleles | c+w | RHCE*01.40 RHCE*ce40 | c.340C>T | Exon 3 | p.Arg114Trp | chr1:25402742 | ||||
0.1:ce Alleles | Rh:-51, CW and weakly reactive with three examples of anti-CX | RHCE*01.41 RHCE*ce41 | c.114A>C | Exon 1 | p.Leu38Phe | chr1:25420673 |
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0.1:ce Alleles | c+e+ reactive with anti-D (MS-26, HM10, ESD1, HM16) in absence of RHD | RHCE*01.42 RHCE*ce42 | c.508A>G | Exon 4 | p.Arg170Gly | chr1:25392120 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.01 RHCE*ceN.01 | c.80_84delTCTTC | Exon 1 | p.Tyr29Phefs* 5 | chr1:25420707 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.02 RHCE*ceN.02 | c.963delG | Exon 7 | p.Ile322Phefs*37 | chr1:25385821 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.03 RHCE*ceN.03 | c.634+1G>T | Intron 4 | Splice site | chr1:25391993 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.04 RHCE*ceN.04 | c.676delG | Exon 5 | p.Ala226Leu fs*2 | chr1:25390874 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.05 RHCE*ceN.05 | c.335+3A>T | Intron 2 | Splice site | chr1:25408680 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.06 RHCE*ceN.06 | c.679_683delCTGCT | Exon 5 | p.Leu227Glufs*89 | chr1:25390871 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.07 RHCE*ceN.07 | c.1074-2A>G | Intron 7 | Splice site | chr1:25375430 |
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0.2:ce Null Alleles | c-e- | RHCE*01N.08 RHCE*ceN.08 | c.801+1G>A | Intron 5 | Splice site | chr1:25390748 |
|
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0.2:ce Null Alleles | c-e- | RHCE*01N.09 RHCE*ceN.09 | c.1044_1050 dupGCT | Exon 7 | p.Thr351Alafs*52 | chr1:25385740 |
|
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0.2:ce Null Alleles | c-e- | RHCE*01N893. 10 RHCE*ceN.10 | c.807T>A | Exon 6 | p.Tyr269* | chr1:25389108 |
|
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0.3:Ce Alleles | Ce RH:2 or C RH:5 or e RH:7 or rhi(Ce) | RHCE*02 or RHCE*Ce RHCE*C RHCE*e |
c.48G>C c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T c.676G |
Exon 1
Exon 2 Exon 2 Exon 2 Exon 2 Exon 2 |
p.Trp16Cys silent p.Leu60Ile silent p.Asn68Ser p.Pro103Ser p.Ala226 |
chr1:25420739 chr1:25408868 chr1:25408840 chr1:25408817 chr1:25408815 chr1:25408711 |
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0.3:Ce Alleles | C+w/- e+w RH:48(JAL+) | RHCE*02.01 RHCE*Ce.01 | c.340C>T | Exon 3 | p.Arg114Trp | chr1:25402742 | ||||
0.3:Ce Alleles | C+e+ | RHCE*02.02 RHCE*Ce.02 |
c.667G>T c.697C>G c.712A>G |
Exon 5
Exon 5 Exon 5 |
p.Val223Phe p.Gln233Glu p.Met238Val |
chr1:25390883 chr1:25390853 chr1:25390838 |
||||
0.3:Ce Alleles | C+we+w RH:53(JAHK +) rG | RHCE*02.03 RHCE*Ce.03 | c.365C>T | Exon 3 | p.Ser122Leu | chr1:25402717 | ||||
0.3:Ce Alleles | partial C+ | RHCE*02.04 RHCE*Ce.04 |
c.667G>T c.697C>G c.712A>G c.733C>G c.744T>C c.787A>G c.800T>A |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Val223Phe p.Gln233Glu p.Mer238Val p.Leu245Val silent p.Arg263Gly p.Met267Lys |
chr1:25390883 chr1:25390853 chr1:25390838 chr1:25390817 chr1:25390806 chr1:25390763 chr1:25390750 |
||||
0.3:Ce Alleles | C+we+w | RHCE*02.04.01 RHCE*Ce.04.01 |
c.667G>T c.697C>G c.712A>G c.733C>G c.744T>C c.787A>G |
Exon 5
Exon 5 Exon 5 Exon 5 Exon 5 Exon 5 |
p.Val223Phe p.Gln233Glu p.Mer238Val p.Leu245Val silent p.Arg263Gly |
chr1:25390883 chr1:25390853 chr1:25390838 chr1:25390817 chr1:25390806 chr1:25390763 |
||||
0.3:Ce Alleles | RH:60 (PARG+) | RHCE*02.05 RHCE*Ce.05 | c.501G>A | Exon 4 | p.Met167Ile | chr1:25392127 |
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0.3:Ce Alleles | partial C+ RH:8 (CW+) RH:-51 (MAR-) | RHCE*02.08.01 RHCE*Ce.08.01 | c.122A>G | Exon 1 | p.Gln41Arg | chr1:25420665 | ||||
0.3:Ce Alleles | RH:8 (Cw+) RH:-56 (CENR-) | RHCE*02.08.02 RHCE*Ce.08.02 |
c.122A>G & RHD exon 6-10 |
Exon 1 | p.Gln41Arg | chr1:25420665 | ||||
0.3:Ce Alleles | partial C+ RH:9 (CX+) RH:-51 (MAR-) | RHCE*02.09 RHCE*Ce.09 | c.106G>A | Exon 1 | p.Ala36Thr | chr1:25420681 | ||||
0.3:Ce Alleles | C+w/-partial e+w RH:32 (RN) RH:54 (DAK+) RH:-46 (Sec-) | RHCE*02.10.01 RHCE*Ce.10.01 |
c.505C>A c.509G>T c.514T>A c.544A>T c.577A>G c.594T>A c.602G>C |
Exon 4
Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 |
p.Leu169Met p.Arg170Met p.Phe172Ile p.Thr182Ser p.Lys193Glu p.Asn198Lys p.Arg201Thr |
chr1:25392123 chr1:25392119 chr1:25392114 chr1:25392084 chr1:25392051 chr1:25392034 chr1:25392026 |
||||
0.3:Ce Alleles | C+w/- partial e+w RH:32 (RN) RH:54 (DAK+) RH:-46 (Sec-) | RHCE*02.10.02 RHCE*Ce.10.02 |
c.455C>A c.505C>A c.509G>T c.514T>A c.544A>T c.577A>G c.594T>A c.602G>C |
Exon 3
Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 Exon 4 |
p.Thr152Asn p.Leu169Met p.Arg170Met p.Phe172Ile p.Thr182Ser p.Lys193Glu p.Asn198Lys p.Arg201Thr |
chr1:25402627 chr1:25392123 chr1:25392119 chr1:25392114 chr1:25392084 chr1:25392051 chr1:25392034 chr1:25392026 |
||||
0.3:Ce Alleles | C+w | RHCE*02.11 RHCE*Ce.11 | c.286G>A | Exon 2 | p.Gly96Ser | chr1:25408732 | ||||
0.3:Ce Alleles | C+w | RHCE*02.12 RHCE*Ce.12 | c.344T>G | Exon 3 | p.Leu115Arg | chr1:25402738 |
|
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0.3:Ce Alleles | e+w | RHCE*02.13 RHCE*Ce.13 | c.364T>C | Exon 3 | p.Ser122Pro | chr1:25402718 |
|
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0.3:Ce Alleles | C+w | RHCE*02.14 RHCE*Ce.14 | c.497A>T | Exon 4 | p.His166Leu | chr1:25392131 |
|
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0.3:Ce Alleles | e+w | RHCE*02.15 RHCE*Ce.15 | c.689G>C | Exon 5 | p.Ser230Thr | chr1:25390861 |
|
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0.3:Ce Alleles | C+w e+w | RHCE*02.16 RHCE*Ce.16 | c.728A>G | Exon 5 | p.Tyr243Cys | chr1:25390822 | ||||
0.3:Ce Alleles | e+w | RHCE*02.17 RHCE*Ce.17 | c.800T>A | Exon 5 | p.Met267Lys | chr1:25390750 | ||||
0.3:Ce Alleles | C+w e+w | RHCE*02.18 RHCE*Ce.18 | c.890T>C | Exon 6 | p.Leu297Pro | chr1:25389025 | ||||
0.3:Ce Alleles | e+w | RHCE*02.19 RHCE*Ce.19 |
c.464T>G c.1118C>T |
Exon 3
Exon 8 |
p.Met155Arg p.Ala373Val |
chr1:25402618 chr1:25375384 |
|
|
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0.3:Ce Alleles | C+w e+w | RHCE*02.20 RHCE*Ce.20 | c.79_81delCTC | Exon 1 | p.Leu27del | chr1:25420708 |
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0.3:Ce Alleles | C+w | RHCE*02.21 RHCE*Ce.21 | c.527C>T | Exon 4 | p.Ala176Val | chr1:25392101 |
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0.3:Ce Alleles | Partial e+w C+w | RHCE*02.22 RHCE*Ce.22 | c.667G>T | Exon 5 | p.Val223Phe | chr1:25390883 | ||||
0.3:Ce Alleles | C+w | RHCE*02.23 RHCE*Ce.23 | c.941T>C | Exon 7 | p.Val314Ala | chr1:25385843 | ||||
0.3:Ce Alleles | C+w e+w | RHCE*02.24 RHCE*Ce.24 | c.1007G>A | Exon 7 | p.Gly336Asp | chr1:25385777 | ||||
0.3:Ce Alleles | C+w | RHCE*02.25 RHCE*Ce.25 | c.1007G>T | Exon 7 | p.Gly336Val | chr1:25385777 |
|
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0.3:Ce Alleles | C+w e+w | RHCE*02.26 RHCE*Ce.26 | c.460A>G | Exon 3 | p.Arg154Gly | chr1:25402622 | ||||
0.3:Ce Alleles | C+w e+w | RHCE*02.27 RHCE*Ce.27 | c.375C>G | Exon 3 | p.Ile125Met | chr1:25402707 | ||||
0.3:Ce Alleles | C+ e+ RH:9 | RHCE*02.28 RHCE*Ce.28 | c.919G>A | Exon 6 | p.Gly307Arg | chr1:25388996 | ||||
0.3:Ce Alleles | C+ e+ E+/- | RHCE*02.29 RHCE*Ce.29 | c.674C>G | Exon 5 | p.Ser225Cys | chr1:25390876 |
|
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0.3:Ce Alleles | C+ e+ V+VS+ | RHCE*02.30 RHCE*Ce.30 | c.733C>G | Exon 5 | p.Leu245Val | chr1:25390817 | ||||
0.3:Ce Alleles | Cw+ ew+ | RHCE*02.31 RHCE*Ce.31 | c.487-5T>G | Intron 3 | Splice site | chr1:25392146 | ||||
0.3:Ce Alleles | Cw+ | RHCE*02.32 RHCE*Ce.32 | c.1228-2A>G | Intron 9 | Splice site | chr1:25362555 |
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0.3:Ce Alleles | Cw+ | RHCE*02.33 RHCE*Ce.33 | c.98A>C | Exon 1 | p.His33Pro | chr1:25420689 |
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0.3:Ce Alleles | Cw+ ew+ | RHCE*02.34 RHCE*Ce.34 | c.473G>A | Exon 3 | p.Ser158Asn | chr1:25402609 | ||||
0.3:Ce Alleles | Cw+ | RHCE*02.35 RHCE*Ce.35 | c.491A>G | Exon 4 | p.Asp164Gly | chr1:25392137 |
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0.3:Ce Alleles | Cw+ | RHCE*02.36 RHCE*Ce.36 | c.494A>C | Exon 4 | p.Tyr165Ser | chr1:25392134 |
|
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0.3:Ce Alleles | C+ | RHCE*02.37 RHCE*Ce.37 | Lacking the 109bp insert | |||||||
0.4:Ce Null Alleles | C-e- | RHCE*02N.01 RHCE*CeN.01 | c.966_969delTCAC | Exon 7 | p.His323Thr fs*75 | chr1:25385818 |
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0.4:Ce Null Alleles | C-e- | RHCE*02N.02 RHCE*CeN.02 | c.659G>A | Exon 5 | p.Trp220* | chr1:25390891 |
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0.4:Ce Null Alleles | C-e- | RHCE*02N.03 RHCE*CeN.03 | c.486+1G>A | Intron 3 | Splice site | chr1:25402595 | ||||
0.4:Ce Null Alleles | C-e- | RHCE*02N.04 RHCE*CeN.04 | c.93_94insT | Exon 1 | p.Thr32Tyrfs*3 | chr1:25420694 |
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0.4:Ce Null Alleles | C-e- | RHCE*02N.05 RHCE*CeN.05 | c.377C>G | Exon 3 | p.Ser126* | chr1:25402705 |
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0.4:Ce Null Alleles | C-e- | RHCE*02N.06 RHCE*CeN.06 | c.148+5G>A | Intron 1 | Splice site | chr1:25420634 |
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0.4:Ce Null Alleles | C-e- | RHCE*02N.07 RHCE*CeN.07 | RHD exons 3-8 | |||||||
0.4:Ce Null Alleles | C-e- | RHCE*02N.08 RHCE*CeN.08 | RHD exons 3-9 | |||||||
0.4:Ce Null Alleles | C-e- | RHCE*02N.09 RHCE*CeN.09 | c.938delC | Exon 6 | p.Pro313Argfs*46 | chr1:25388977 |
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0.4:Ce Null Alleles | C- (ce in trans) | RHCE*02N.10 RHCE*CeN.10 | Ce482_483in sT | p.Asn162Gln fs37Ter | ||||||
0.5:cE Alleles | cE RH:4 or c RH:3 or E RH:27 (cE) | RHCE*03 or RHCE*cE RHCE*c RHCE*E |
c.307C c.676G>C |
Exon 5 |
p.Pro103 p.Ala226Pro |
chr1:25390874 | ||||
0.5:cE Alleles | partial E RH:11 (EW +) E type I | RHCE*03.01 RHCE*cE.01 | c.500T>A | Exon 4 | p.Met167Lys | chr1:25392128 | ||||
0.5:cE Alleles | partial E c+w/- E+w/- E type II | RHCE*03.02 RHCE*cE.02 | D(1-3)-cE | NA | ||||||
0.5:cE Alleles | partial E E+w or E+/- E type III | RHCE*03.03 RHCE*cE.03 |
c.697C>G c.712A>G |
Exon 5
Exon 5 |
p.Gln233Glu p.Met238Val |
chr1:25390853 chr1:25390838 |
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0.5:cE Alleles | partial E E+/- | RHCE*03.03.02 RHCE*cE.03.02 |
c.697C>G c.712A>G c.733C>G c.744T>C |
Exon 5
Exon 5 Exon 5 Exon 5 |
p.Gln233Glu p.Met238Val p.Leu245Val silent |
chr1:25390853 chr1:25390838 chr1:25390817 chr1:25390806 |
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0.5:cE Alleles | partial E E− by PK7300 1+w - 4+ depending on reagent | RHCE*03.03.03 RHCE*cE.03.03 | c.697C>G | Exon 5 | p.Gln233Glu | chr1:25390853 | ||||
0.5:cE Alleles | partial E E+w or E+/- c+w E type IV | RHCE*03.04 RHCE*cE.04 | c.602G>C | Exon 4 | p.Arg201Thr | chr1:25392026 | ||||
0.5:cE Alleles | partial E E+w or E+/- c+w E type V | RHCE*03.05 RHCE*cE.05 | c.461G>C | Exon 3 | p.Arg154Thr | chr1:25402621 |
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0.5:cE Alleles | E+w c+w | RHCE*03.06 RHCE*cE.06 | c.28C>T | Exon 1 | p.Arg10Trp | chr1:25420759 | ||||
0.5:cE Alleles | E+w | RHCE*03.07 RHCE*cE.07 | c.344T>C | Exon 3 | p.Leu115Pro | chr1:25402738 |
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0.5:cE Alleles | E+w | RHCE*03.08 RHCE*cE.08 | c.356G>A | Exon 3 | p.Ser119Asn | chr1:25402726 | ||||
0.5:cE Alleles | E+w c+w | RHCE*03.09 RHCE*cE.09 | c.374T>A | Exon 3 | p.Ile125Asn | chr1:25402708 |
|
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0.5:cE Alleles | E+w | RHCE*03.10 RHCE*cE.10 | c.506T>A | Exon 4 | p.Leu169Gln | chr1:25392122 |
|
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0.5:cE Alleles | E+w c+w | RHCE*03.11 RHCE*cE.11 | c.908T>A | Exon 6 | p.Leu303Gln | chr1:25389007 |
|
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0.5:cE Alleles | E+w | RHCE*03.12 RHCE*cE.12 |
c.464T>G c.477T>G |
Exon 3
Exon 3 |
p.Met155Arg p.Asn159Lys |
chr1:25402618 chr1:25402605 |
|
|
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0.5:cE Alleles | E+w c+w | RHCE*03.13 RHCE*cE.13 | c.728A>G | Exon 5 | p.Tyr243Cys | chr1:25390822 | ||||
0.5:cE Alleles | c+w E-/+VW | RHCE*03.14 RHCE*cE.14 | c.734T>C | Exon 5 | p.Leu245Pro | chr1:25390816 |
|
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0.5:cE Alleles | E+w | RHCE*03.15.01 RHCE*cE.15.01 |
c.380C>T c.383G>A |
Exon 3
Exon 3 |
p.Ala127Val p.Gly128Asp |
chr1:25402702 chr1:25402699 |
||||
0.5:cE Alleles | E+w | RHCE*03.15.02 RHCE*cE.15.02 |
c.361A>T c.380C>T c.383G>A |
Exon 3
Exon 3 Exon 3 |
p.Met121Leu p.Ala127Val p.Gly128Asp |
chr1:25402721 chr1:25402702 chr1:25402699 |
||||
0.5:cE Alleles | c+w | RHCE*03.16 RHCE*cE.16 | c.94A>G | Exon 1 | p.Thr32Ala | chr1:25420693 | ||||
0.5:cE Alleles | partial E | RHCE*03.17 RHCE*cE.17 | c.520G>A | Exon 4 | p.Val174Met | chr1:25392108 | ||||
0.5:cE Alleles | c+ E+ | RHCE*03.18 RHCE*cE.18 | c.48G>C | Exon 1 | p.Trp16Cys | chr1:25420739 |
|
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0.5:cE Alleles | c+w/- E+w/- | RHCE*03.19 RHCE*cE.19 | c.84C>A | Exon 1 | p.Phe28Leu | chr1:25420703 |
|
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0.5:cE Alleles | c+w Ew+/- | RHCE*03.20 RHCE*cE.20 | c.149-1G>A | Intron 1 | Splice site | chr1:25408870 |
|
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0.5:cE Alleles | Ew | RHCE*03.21 RHCE*cE.21 | c.527C>T | Exon 4 | p.Ala176Val | chr1:25392101 |
|
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0.5:cE Alleles | Ew | RHCE*03.22 RHCE*cE.22 | c.208C>T | Exon 2 | p.Arg70Trp | chr1:25408810 | ||||
0.5:cE Alleles | Ew | RHCE*03.23 RHCE*cE.23 |
c.774T>A c.916A>G |
Exon 5
Exon 6 |
silent p.Ile306Val |
chr1:25390776 chr1:25388999 |
||||
0.5:cE Alleles | Ew | RHCE*03.24 RHCE*cE.24 | c.1130A>T | Exon 8 | p.Ala377Val | chr1:25375372 |
|
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0.5:cE Alleles | c-E- | RHCE*03.25 RHCE*cE.25 | c.659G>A | Exon 5 | p.Trp220* | chr1:25390891 |
|
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0.5:cE Alleles | C+w - 3+ depending on reagent E+ | RHCE*03.26 RHCE*cE.26 |
c.48G>C c.307C>T |
Exon 1
Exon 2 |
p.Trp16Cys p.Pro103Ser |
chr1:25420739 chr1:25408711 |
|
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0.6:cE Null Alleles | c-E- | RHCE*03N.01 RHCE*cEN.01 | c.350_358delCCATGAGTG | Exon 3 | p.Arg120_ Ser122del | chr1:25402732 |
|
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0.6:cE Null Alleles | c-E- | RHCE*03N.02 RHCE*cEN.02 | c.907delC | Exon 6 | p.Leu303* | chr1:25389008 | ||||
0.6:cE Null Alleles | c-E- | RHCE*03N.03 RHCE*cEN.03 | c.554G>A | Exon 4 | p.Trp185* | chr1:25392074 |
|
|||
0.7:CE Alleles | C+w E+/- | RHCE*04.01 RHCE*CE.01 | c.722C>T | Exon 5 | p.Thr241Ile | chr1:25390828 |
|
|||
0.7:CE Alleles | C+/- (+ only by IAT and ads/elu) E+/- | RHCE*04.02 RHCE*CE.02 | c.380C>A | Exon 3 | p.Ala127Glu | chr1:25402702 | ||||
0.6:cE Null Alleles | c-E- | RHCE*04N.04 RHCE*cEN.04 | c.486+5G>A | Intron 3 | Splice site | chr1:25402591 |
|
|||
0.6:cE Null Alleles | c-E- | RHCE*04N.05 RHCE*cEN.05 | c.221G>A | Exon 2 | p.Trp74* | chr1:25408797 | ||||
0.7:CE Alleles | CE RH:2 or C RH:3 or E RH:22 or CE | RHCE*CE or RHCE*04 RHCE*C RHCE*E |
c.48G>C c.150C>T c.178C>A c.201A>G c.203A>G c.307C>T c.676G>C |
Exon 1
Exon 2 Exon 2 Exon 2 Exon 2 Exon 2 Exon 5 |
p.Trp16Cys silent p.Leu60Ile silent p.Asn68Ser p.Pro103Ser p.Ala226Pro |
chr1:25420739 chr1:25408868 chr1:25408840 chr1:25408817 chr1:25408815 chr1:25408711 chr1:25390874 |
|