| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.130471484G>A | CA375227432 | ASS1 | c.567-1G>A (n.567-1G>A) c.510-1G>A (n.510-1G>A) n.276-1G>A n.398-1G>A c.681-1G>A (n.681-1G>A) c.663-1G>A (n.663-1G>A) | gnomAD v4 |
| 9 | g.130471484G>C | CA375227434 | ASS1 | c.567-1G>C (n.567-1G>C) c.510-1G>C (n.510-1G>C) n.276-1G>C n.398-1G>C c.681-1G>C (n.681-1G>C) c.663-1G>C (n.663-1G>C) | |
| 9 | g.130471484G= | CA1881256230 | ASS1 | c.567-1G= (n.567-1G=) c.510-1G= (n.510-1G=) n.276-1G= n.398-1G= c.681-1G= (n.681-1G=) c.663-1G= (n.663-1G=) | |
| 9 | g.130471484G>T | CA16041301 | ASS1 | c.567-1G>T (n.567-1G>T) c.510-1G>T (n.510-1G>T) n.276-1G>T n.398-1G>T c.681-1G>T (n.681-1G>T) c.663-1G>T (n.663-1G>T) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130471485C>A | CA375227436 | ASS1 | c.567C>A (p.Ser189Arg) c.510C>A (p.Ser170Arg) n.276C>A n.398C>A c.681C>A (p.Ser227Arg) c.663C>A (p.Ser221Arg) | |
| 9 | g.130471485C>G | CA375227438 | ASS1 | c.567C>G (p.Ser189Arg) c.510C>G (p.Ser170Arg) n.276C>G n.398C>G c.681C>G (p.Ser227Arg) c.663C>G (p.Ser221Arg) | |
| 9 | g.130471485C>T | CA467389230 | ASS1 | c.567C>T (p.Ser189=) c.510C>T (p.Ser170=) n.276C>T n.398C>T c.681C>T (p.Ser227=) c.663C>T (p.Ser221=) | |
| 9 | g.130471486T>A | CA375227440 | ASS1 | c.568T>A (p.Tyr190Asn) c.511T>A (p.Tyr171Asn) n.277T>A n.399T>A c.682T>A (p.Tyr228Asn) c.664T>A (p.Tyr222Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130471486T>C | CA5283369 | ASS1 | c.568T>C (p.Tyr190His) c.511T>C (p.Tyr171His) n.277T>C n.399T>C c.682T>C (p.Tyr228His) c.664T>C (p.Tyr222His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.130471486T>G | CA375227443 | ASS1 | c.568T>G (p.Tyr190Asp) c.511T>G (p.Tyr171Asp) n.277T>G n.399T>G c.682T>G (p.Tyr228Asp) c.664T>G (p.Tyr222Asp) | |
| 9 | g.130471486T= | CA1881256232 | ASS1 | c.568T= (p.Tyr190=) c.511T= (p.Tyr171=) n.277T= n.399T= c.682T= (p.Tyr228=) c.664T= (p.Tyr222=) | |
| 9 | g.130471487A>C | CA375227449 | ASS1 | c.569A>C (p.Tyr190Ser) c.512A>C (p.Tyr171Ser) n.278A>C n.400A>C c.683A>C (p.Tyr228Ser) c.665A>C (p.Tyr222Ser) | |
| 9 | g.130471487A>G | CA375227447 | ASS1 | c.569A>G (p.Tyr190Cys) c.512A>G (p.Tyr171Cys) n.278A>G n.400A>G c.683A>G (p.Tyr228Cys) c.665A>G (p.Tyr222Cys) | |
| 9 | g.130471487A>T | CA375227445 | ASS1 | c.569A>T (p.Tyr190Phe) c.512A>T (p.Tyr171Phe) n.278A>T n.400A>T c.683A>T (p.Tyr228Phe) c.665A>T (p.Tyr222Phe) | |
| 9 | g.130471488C>A | CA375227451 | ASS1 | c.570C>A (p.Tyr190Ter) c.513C>A (p.Tyr171Ter) n.279C>A n.401C>A c.684C>A (p.Tyr228Ter) c.666C>A (p.Tyr222Ter) | |
| 9 | g.130471488C= | CA1881256237 | ASS1 | c.570C= (p.Tyr190=) c.513C= (p.Tyr171=) n.279C= n.401C= c.684C= (p.Tyr228=) c.666C= (p.Tyr222=) | |
| 9 | g.130471488C>G | CA375227452 | ASS1 | c.570C>G (p.Tyr190Ter) c.513C>G (p.Tyr171Ter) n.279C>G n.401C>G c.684C>G (p.Tyr228Ter) c.666C>G (p.Tyr222Ter) | |
| 9 | g.130471488C>T | CA5283370 | ASS1 | c.570C>T (p.Tyr190=) c.513C>T (p.Tyr171=) n.279C>T n.401C>T c.684C>T (p.Tyr228=) c.666C>T (p.Tyr222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130471489G>A | CA275932 | ASS1 | c.571G>A (p.Glu191Lys) c.514G>A (p.Glu172Lys) n.280G>A n.402G>A c.685G>A (p.Glu229Lys) c.667G>A (p.Glu223Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.130471489G>C | CA375227456 | ASS1 | c.571G>C (p.Glu191Gln) c.514G>C (p.Glu172Gln) n.280G>C n.402G>C c.685G>C (p.Glu229Gln) c.667G>C (p.Glu223Gln) | gnomAD v4 |
| 9 | g.130471489G= | CA1881256244 | ASS1 | c.571G= (p.Glu191=) c.514G= (p.Glu172=) n.280G= n.402G= c.685G= (p.Glu229=) c.667G= (p.Glu223=) | |
| 9 | g.130471489G>T | CA375227457 | ASS1 | c.571G>T (p.Glu191Ter) c.514G>T (p.Glu172Ter) n.280G>T n.402G>T c.685G>T (p.Glu229Ter) c.667G>T (p.Glu223Ter) | ClinVar dbSNP |
| 9 | g.130471490A>C | CA375227461 | ASS1 | c.572A>C (p.Glu191Ala) c.515A>C (p.Glu172Ala) n.281A>C n.403A>C c.686A>C (p.Glu229Ala) c.668A>C (p.Glu223Ala) | ClinVar dbSNP |
| 9 | g.130471490A>G | CA375227459 | ASS1 | c.572A>G (p.Glu191Gly) c.515A>G (p.Glu172Gly) n.281A>G n.403A>G c.686A>G (p.Glu229Gly) c.668A>G (p.Glu223Gly) | |
| 9 | g.130471490A>T | CA375227460 | ASS1 | c.572A>T (p.Glu191Val) c.515A>T (p.Glu172Val) n.281A>T n.403A>T c.686A>T (p.Glu229Val) c.668A>T (p.Glu223Val) | |
| 9 | g.130471491G>A | CA467389237 | ASS1 | c.573G>A (p.Glu191=) c.516G>A (p.Glu172=) n.282G>A n.404G>A c.687G>A (p.Glu229=) c.669G>A (p.Glu223=) | |
| 9 | g.130471491G>C | CA375227463 | ASS1 | c.573G>C (p.Glu191Asp) c.516G>C (p.Glu172Asp) n.282G>C n.404G>C c.687G>C (p.Glu229Asp) c.669G>C (p.Glu223Asp) | gnomAD v4 |
| 9 | g.130471491G>T | CA375227465 | ASS1 | c.573G>T (p.Glu191Asp) c.516G>T (p.Glu172Asp) n.282G>T n.404G>T c.687G>T (p.Glu229Asp) c.669G>T (p.Glu223Asp) | |
| 9 | g.130471492G>A | CA200617909 | ASS1 | c.574G>A (p.Ala192Thr) c.517G>A (p.Ala173Thr) n.283G>A n.405G>A c.688G>A (p.Ala230Thr) c.670G>A (p.Ala224Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130471492G>C | CA375227467 | ASS1 | c.574G>C (p.Ala192Pro) c.517G>C (p.Ala173Pro) n.283G>C n.405G>C c.688G>C (p.Ala230Pro) c.670G>C (p.Ala224Pro) | |
| 9 | g.130471492G= | CA1881256251 | ASS1 | c.574G= (p.Ala192=) c.517G= (p.Ala173=) n.283G= n.405G= c.688G= (p.Ala230=) c.670G= (p.Ala224=) | |
| 9 | g.130471492G>T | CA375227469 | ASS1 | c.574G>T (p.Ala192Ser) c.517G>T (p.Ala173Ser) n.283G>T n.405G>T c.688G>T (p.Ala230Ser) c.670G>T (p.Ala224Ser) | gnomAD v4 |
| 9 | g.130471493C>A | CA375227472 | ASS1 | c.575C>A (p.Ala192Asp) c.518C>A (p.Ala173Asp) n.284C>A n.406C>A c.689C>A (p.Ala230Asp) c.671C>A (p.Ala224Asp) | |
| 9 | g.130471493C= | CA1881256255 | ASS1 | c.575C= (p.Ala192=) c.518C= (p.Ala173=) n.284C= n.406C= c.689C= (p.Ala230=) c.671C= (p.Ala224=) | |
| 9 | g.130471493C>G | CA375227474 | ASS1 | c.575C>G (p.Ala192Gly) c.518C>G (p.Ala173Gly) n.284C>G n.406C>G c.689C>G (p.Ala230Gly) c.671C>G (p.Ala224Gly) | |
| 9 | g.130471493C>T | CA375227476 | ASS1 | c.575C>T (p.Ala192Val) c.518C>T (p.Ala173Val) n.284C>T n.406C>T c.689C>T (p.Ala230Val) c.671C>T (p.Ala224Val) | dbSNP |
| 9 | g.130471494T>A | CA467389242 | ASS1 | c.576T>A (p.Ala192=) c.519T>A (p.Ala173=) n.285T>A n.407T>A c.690T>A (p.Ala230=) c.672T>A (p.Ala224=) | |
| 9 | g.130471494T>C | CA5283371 | ASS1 | c.576T>C (p.Ala192=) c.519T>C (p.Ala173=) n.285T>C n.407T>C c.690T>C (p.Ala230=) c.672T>C (p.Ala224=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130471494T>G | CA5283372 | ASS1 | c.576T>G (p.Ala192=) c.519T>G (p.Ala173=) n.285T>G n.407T>G c.690T>G (p.Ala230=) c.672T>G (p.Ala224=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.130471494T= | CA1881256258 | ASS1 | c.576T= (p.Ala192=) c.519T= (p.Ala173=) n.285T= n.407T= c.690T= (p.Ala230=) c.672T= (p.Ala224=) | |
| 9 | g.130471495G>A | CA375227479 | ASS1 | c.577G>A (p.Gly193Arg) c.520G>A (p.Gly174Arg) n.286G>A n.408G>A c.691G>A (p.Gly231Arg) c.673G>A (p.Gly225Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.130471495G>C | CA375227481 | ASS1 | c.577G>C (p.Gly193Arg) c.520G>C (p.Gly174Arg) n.286G>C n.408G>C c.691G>C (p.Gly231Arg) c.673G>C (p.Gly225Arg) | |
| 9 | g.130471495G= | CA1881256264 | ASS1 | c.577G= (p.Gly193=) c.520G= (p.Gly174=) n.286G= n.408G= c.691G= (p.Gly231=) c.673G= (p.Gly225=) | |
| 9 | g.130471495G>T | CA375227482 | ASS1 | c.577G>T (p.Gly193Ter) c.520G>T (p.Gly174Ter) n.286G>T n.408G>T c.691G>T (p.Gly231Ter) c.673G>T (p.Gly225Ter) | |
| 9 | g.130471496G>A | CA375227488 | ASS1 | c.578G>A (p.Gly193Glu) c.521G>A (p.Gly174Glu) n.287G>A n.409G>A c.692G>A (p.Gly231Glu) c.674G>A (p.Gly225Glu) | |
| 9 | g.130471496G>C | CA375227485 | ASS1 | c.578G>C (p.Gly193Ala) c.521G>C (p.Gly174Ala) n.287G>C n.409G>C c.692G>C (p.Gly231Ala) c.674G>C (p.Gly225Ala) | ClinVar dbSNP gnomAD v4 |
| 9 | g.130471496G>T | CA375227486 | ASS1 | c.578G>T (p.Gly193Val) c.521G>T (p.Gly174Val) n.287G>T n.409G>T c.692G>T (p.Gly231Val) c.674G>T (p.Gly225Val) | |
| 9 | g.130471497A>C | CA467389246 | ASS1 | c.579A>C (p.Gly193=) c.522A>C (p.Gly174=) n.288A>C n.410A>C c.693A>C (p.Gly231=) c.675A>C (p.Gly225=) | |
| 9 | g.130471497A>G | CA467389247 | ASS1 | c.579A>G (p.Gly193=) c.522A>G (p.Gly174=) n.288A>G n.410A>G c.693A>G (p.Gly231=) c.675A>G (p.Gly225=) | ClinVar gnomAD v4 |
| 9 | g.130471497A>T | CA467389248 | ASS1 | c.579A>T (p.Gly193=) c.522A>T (p.Gly174=) n.288A>T n.410A>T c.693A>T (p.Gly231=) c.675A>T (p.Gly225=) | gnomAD v4 |