Kidd > JK*01N.20
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Phenotypes
Jka
Jkb
Jk3
Genetic Changes
nt change | aa change | Exon/Intron | HGVS | hg19 | hg38 | rsNum | gnomAD |
---|---|---|---|---|---|---|---|
c.28> |
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chr18:43,310,313 | chr18:45,730,348 |
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|||
c.28G>A | p.Val10Met | Exon 3 |
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chr18:43,310,313 | chr18:45,730,348 |
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c.226G>A | p.Val76Ile | Exon 4 |
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chr18:43,311,054 | chr18:45,731,089 |
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c.303G>A | Exon 4 |
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chr18:43,311,131 | chr18:45,731,166 |
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c.588A>G | Exon 6 |
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chr18:43,316,538 | chr18:45,736,573 |
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Sequence
None
Publication
None