Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar 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=) | ClinVar 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 |
9 | g.130471498A= | CA1881256268 | ASS1 | c.580A= (p.Ile194=) c.523A= (p.Ile175=) n.289A= n.411A= c.694A= (p.Ile232=) c.676A= (p.Ile226=) | |
9 | g.130471498A>C | CA375227490 | ASS1 | c.580A>C (p.Ile194Leu) c.523A>C (p.Ile175Leu) n.289A>C n.411A>C c.694A>C (p.Ile232Leu) c.676A>C (p.Ile226Leu) | dbSNP |
9 | g.130471498A>G | CA375227492 | ASS1 | c.580A>G (p.Ile194Val) c.523A>G (p.Ile175Val) n.289A>G n.411A>G c.694A>G (p.Ile232Val) c.676A>G (p.Ile226Val) | |
9 | g.130471498A>T | CA375227493 | ASS1 | c.580A>T (p.Ile194Phe) c.523A>T (p.Ile175Phe) n.289A>T n.411A>T c.694A>T (p.Ile232Phe) c.676A>T (p.Ile226Phe) | |
9 | g.130471499T>A | CA375227496 | ASS1 | c.581T>A (p.Ile194Asn) c.524T>A (p.Ile175Asn) n.290T>A n.412T>A c.695T>A (p.Ile232Asn) c.677T>A (p.Ile226Asn) | |
9 | g.130471499T>C | CA375227497 | ASS1 | c.581T>C (p.Ile194Thr) c.524T>C (p.Ile175Thr) n.290T>C n.412T>C c.695T>C (p.Ile232Thr) c.677T>C (p.Ile226Thr) | gnomAD v4 |
9 | g.130471499T>G | CA375227498 | ASS1 | c.581T>G (p.Ile194Ser) c.524T>G (p.Ile175Ser) n.290T>G n.412T>G c.695T>G (p.Ile232Ser) c.677T>G (p.Ile226Ser) | |
9 | g.130471500C>A | CA467389254 | ASS1 | c.582C>A (p.Ile194=) c.525C>A (p.Ile175=) n.291C>A n.413C>A c.696C>A (p.Ile232=) c.678C>A (p.Ile226=) | |
9 | g.130471500C>G | CA375227500 | ASS1 | c.582C>G (p.Ile194Met) c.525C>G (p.Ile175Met) n.291C>G n.413C>G c.696C>G (p.Ile232Met) c.678C>G (p.Ile226Met) | gnomAD v4 |
9 | g.130471500C>T | CA467389253 | ASS1 | c.582C>T (p.Ile194=) c.525C>T (p.Ile175=) n.291C>T n.413C>T c.696C>T (p.Ile232=) c.678C>T (p.Ile226=) | ClinVar dbSNP |
9 | g.130471500_130471501delinsTT | CA645547254 | ASS1 | c.582_583delinsTT (p.Ile194=) c.525_526delinsTT (p.Ile175=) n.291_292delinsTT n.413_414delinsTT c.696_697delinsTT (p.Ile232=) c.678_679delinsTT (p.Ile226=) | COSMIC |