Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.94031778C>A | CA341286672 | ABCA4 | c.4128G>T (p.Gln1376His) c.504G>T (p.Gln168His) | |
1 | g.94031778C= | CA1181415418 | ABCA4 | c.4128G= (p.Gln1376=) c.504G= (p.Gln168=) | |
1 | g.94031778C>G | CA16621568 | ABCA4 | c.4128G>C (p.Gln1376His) c.504G>C (p.Gln168His) | ClinVar dbSNP |
1 | g.94031778C>T | CA418825190 | ABCA4 | c.4128G>A (p.Gln1376=) c.504G>A (p.Gln168=) | ClinVar dbSNP |
1 | g.94031779T>A | CA341286676 | ABCA4 | c.4127A>T (p.Gln1376Leu) c.503A>T (p.Gln168Leu) | |
1 | g.94031779T>C | CA341286679 | ABCA4 | c.4127A>G (p.Gln1376Arg) c.503A>G (p.Gln168Arg) | |
1 | g.94031779T>G | CA341286683 | ABCA4 | c.4127A>C (p.Gln1376Pro) c.503A>C (p.Gln168Pro) | |
1 | g.94031780G>A | CA341286686 | ABCA4 | c.4126C>T (p.Gln1376Ter) c.502C>T (p.Gln168Ter) | |
1 | g.94031780G>C | CA341286689 | ABCA4 | c.4126C>G (p.Gln1376Glu) c.502C>G (p.Gln168Glu) | |
1 | g.94031780G>T | CA341286699 | ABCA4 | c.4126C>A (p.Gln1376Lys) c.502C>A (p.Gln168Lys) | |
1 | g.94031781C>A | CA418825192 | ABCA4 | c.4125G>T (p.Ala1375=) c.501G>T (p.Ala167=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.94031781C= | CA1181415419 | ABCA4 | c.4125G= (p.Ala1375=) c.501G= (p.Ala167=) | |
1 | g.94031781C>G | CA418825191 | ABCA4 | c.4125G>C (p.Ala1375=) c.501G>C (p.Ala167=) | dbSNP gnomAD v4 |
1 | g.94031781C>T | CA957723 | ABCA4 | c.4125G>A (p.Ala1375=) c.501G>A (p.Ala167=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.94031782G>A | CA341286705 | ABCA4 | c.4124C>T (p.Ala1375Val) c.500C>T (p.Ala167Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94031782G>C | CA341286709 | ABCA4 | c.4124C>G (p.Ala1375Gly) c.500C>G (p.Ala167Gly) | |
1 | g.94031782G= | CA1181415420 | ABCA4 | c.4124C= (p.Ala1375=) c.500C= (p.Ala167=) | |
1 | g.94031782G>T | CA341286706 | ABCA4 | c.4124C>A (p.Ala1375Glu) c.500C>A (p.Ala167Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94031783C>A | CA341286711 | ABCA4 | c.4123G>T (p.Ala1375Ser) c.499G>T (p.Ala167Ser) | |
1 | g.94031783C>G | CA341286712 | ABCA4 | c.4123G>C (p.Ala1375Pro) c.499G>C (p.Ala167Pro) | |
1 | g.94031783C>T | CA341286714 | ABCA4 | c.4123G>A (p.Ala1375Thr) c.499G>A (p.Ala167Thr) | ClinVar gnomAD v4 |
1 | g.94031784C>A | CA418825194 | ABCA4 | c.4122G>T (p.Leu1374=) c.498G>T (p.Leu166=) | gnomAD v4 |
1 | g.94031784C= | CA1143615173 | ABCA4 | c.4122G= (p.Leu1374=) c.498G= (p.Leu166=) | |
1 | g.94031784C>G | CA418825195 | ABCA4 | c.4122G>C (p.Leu1374=) c.498G>C (p.Leu166=) | |
1 | g.94031784C>T | CA957724 | ABCA4 | c.4122G>A (p.Leu1374=) c.498G>A (p.Leu166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.94031785A>C | CA341286715 | ABCA4 | c.4121T>G (p.Leu1374Arg) c.497T>G (p.Leu166Arg) | |
1 | g.94031785A>G | CA341286717 | ABCA4 | c.4121T>C (p.Leu1374Pro) c.497T>C (p.Leu166Pro) | |
1 | g.94031785A>T | CA341286716 | ABCA4 | c.4121T>A (p.Leu1374Gln) c.497T>A (p.Leu166Gln) | COSMIC |
1 | g.94031786G>A | CA418825196 | ABCA4 | c.4120C>T (p.Leu1374=) c.496C>T (p.Leu166=) | |
1 | g.94031786G>C | CA341286718 | ABCA4 | c.4120C>G (p.Leu1374Val) c.496C>G (p.Leu166Val) | |
1 | g.94031786G>T | CA341286719 | ABCA4 | c.4120C>A (p.Leu1374Met) c.496C>A (p.Leu166Met) | |
1 | g.94031787G>A | CA957725 | ABCA4 | c.4119C>T (p.Phe1373=) c.495C>T (p.Phe165=) | ClinVar dbSNP ExAC |
1 | g.94031787G>C | CA341286723 | ABCA4 | c.4119C>G (p.Phe1373Leu) c.495C>G (p.Phe165Leu) | |
1 | g.94031787G= | CA1181415421 | ABCA4 | c.4119C= (p.Phe1373=) c.495C= (p.Phe165=) | |
1 | g.94031787G>T | CA341286728 | ABCA4 | c.4119C>A (p.Phe1373Leu) c.495C>A (p.Phe165Leu) | |
1 | g.94031788A>C | CA341286730 | ABCA4 | c.4118T>G (p.Phe1373Cys) c.494T>G (p.Phe165Cys) | |
1 | g.94031788A>G | CA341286736 | ABCA4 | c.4118T>C (p.Phe1373Ser) c.494T>C (p.Phe165Ser) | |
1 | g.94031788A>T | CA341286737 | ABCA4 | c.4118T>A (p.Phe1373Tyr) c.494T>A (p.Phe165Tyr) | |
1 | g.94031789A= | CA1181415422 | ABCA4 | c.4117T= (p.Phe1373=) c.493T= (p.Phe165=) | |
1 | g.94031789A>C | CA341286739 | ABCA4 | c.4117T>G (p.Phe1373Val) c.493T>G (p.Phe165Val) | gnomAD v4 |
1 | g.94031789A>G | CA341286741 | ABCA4 | c.4117T>C (p.Phe1373Leu) c.493T>C (p.Phe165Leu) | |
1 | g.94031789A>T | CA341286742 | ABCA4 | c.4117T>A (p.Phe1373Ile) c.493T>A (p.Phe165Ile) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.94031790G>A | CA418825200 | ABCA4 | c.4116C>T (p.Asp1372=) c.492C>T (p.Asp164=) | |
1 | g.94031790G>C | CA341286745 | ABCA4 | c.4116C>G (p.Asp1372Glu) c.492C>G (p.Asp164Glu) | |
1 | g.94031790G>T | CA341286748 | ABCA4 | c.4116C>A (p.Asp1372Glu) c.492C>A (p.Asp164Glu) | |
1 | g.94031791T>A | CA341286749 | ABCA4 | c.4115A>T (p.Asp1372Val) c.491A>T (p.Asp164Val) | |
1 | g.94031791T>C | CA341286751 | ABCA4 | c.4115A>G (p.Asp1372Gly) c.491A>G (p.Asp164Gly) | |
1 | g.94031791T>G | CA341286750 | ABCA4 | c.4115A>C (p.Asp1372Ala) c.491A>C (p.Asp164Ala) | ClinVar |
1 | g.94031792C>A | CA341286752 | ABCA4 | c.4114G>T (p.Asp1372Tyr) c.490G>T (p.Asp164Tyr) | |
1 | g.94031792C>G | CA341286753 | ABCA4 | c.4114G>C (p.Asp1372His) c.490G>C (p.Asp164His) |