Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.36265284G>A | CA10208680 | APOL1 | c.448G>A (p.Glu150Lys) c.*210G>A (n.*210G>A) c.535G>A (p.Glu179Lys) c.496G>A (p.Glu166Lys) c.394G>A (p.Glu132Lys) c.85G>A (p.Glu29Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36265284G>C | CA411366505 | APOL1 | c.448G>C (p.Glu150Gln) c.*210G>C (n.*210G>C) c.535G>C (p.Glu179Gln) c.496G>C (p.Glu166Gln) c.394G>C (p.Glu132Gln) c.85G>C (p.Glu29Gln) | dbSNP gnomAD v4 |
22 | g.36265284G= | CA2403786680 | APOL1 | c.448G= (p.Glu150=) c.*210G= (n.*210G=) c.535G= (p.Glu179=) c.496G= (p.Glu166=) c.394G= (p.Glu132=) c.85G= (p.Glu29=) | |
22 | g.36265284G>T | CA411366506 | APOL1 | c.448G>T (p.Glu150Ter) c.*210G>T (n.*210G>T) c.535G>T (p.Glu179Ter) c.496G>T (p.Glu166Ter) c.394G>T (p.Glu132Ter) c.85G>T (p.Glu29Ter) | |
22 | g.36265285A>C | CA411366507 | APOL1 | c.449A>C (p.Glu150Ala) c.*211A>C (n.*211A>C) c.536A>C (p.Glu179Ala) c.497A>C (p.Glu166Ala) c.395A>C (p.Glu132Ala) c.86A>C (p.Glu29Ala) | |
22 | g.36265285A>G | CA411366508 | APOL1 | c.449A>G (p.Glu150Gly) c.*211A>G (n.*211A>G) c.536A>G (p.Glu179Gly) c.497A>G (p.Glu166Gly) c.395A>G (p.Glu132Gly) c.86A>G (p.Glu29Gly) | |
22 | g.36265285A>T | CA411366509 | APOL1 | c.449A>T (p.Glu150Val) c.*211A>T (n.*211A>T) c.536A>T (p.Glu179Val) c.497A>T (p.Glu166Val) c.395A>T (p.Glu132Val) c.86A>T (p.Glu29Val) | |
22 | g.36265286G>A | CA514472733 | APOL1 | c.450G>A (p.Glu150=) c.*212G>A (n.*212G>A) c.537G>A (p.Glu179=) c.498G>A (p.Glu166=) c.396G>A (p.Glu132=) c.87G>A (p.Glu29=) | |
22 | g.36265286G>C | CA411366510 | APOL1 | c.450G>C (p.Glu150Asp) c.*212G>C (n.*212G>C) c.537G>C (p.Glu179Asp) c.498G>C (p.Glu166Asp) c.396G>C (p.Glu132Asp) c.87G>C (p.Glu29Asp) | |
22 | g.36265286G>T | CA411366511 | APOL1 | c.450G>T (p.Glu150Asp) c.*212G>T (n.*212G>T) c.537G>T (p.Glu179Asp) c.498G>T (p.Glu166Asp) c.396G>T (p.Glu132Asp) c.87G>T (p.Glu29Asp) | |
22 | g.36265287C>A | CA411366512 | APOL1 | c.451C>A (p.Leu151Ile) c.*213C>A (n.*213C>A) c.538C>A (p.Leu180Ile) c.499C>A (p.Leu167Ile) c.397C>A (p.Leu133Ile) c.88C>A (p.Leu30Ile) | gnomAD v4 |
22 | g.36265287C= | CA2403786681 | APOL1 | c.451C= (p.Leu151=) c.*213C= (n.*213C=) c.538C= (p.Leu180=) c.499C= (p.Leu167=) c.397C= (p.Leu133=) c.88C= (p.Leu30=) | |
22 | g.36265287C>G | CA411366514 | APOL1 | c.451C>G (p.Leu151Val) c.*213C>G (n.*213C>G) c.538C>G (p.Leu180Val) c.499C>G (p.Leu167Val) c.397C>G (p.Leu133Val) c.88C>G (p.Leu30Val) | |
22 | g.36265287C>T | CA411366513 | APOL1 | c.451C>T (p.Leu151Phe) c.*213C>T (n.*213C>T) c.538C>T (p.Leu180Phe) c.499C>T (p.Leu167Phe) c.397C>T (p.Leu133Phe) c.88C>T (p.Leu30Phe) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.36265288T>A | CA411366515 | APOL1 | c.452T>A (p.Leu151His) c.*214T>A (n.*214T>A) c.539T>A (p.Leu180His) c.500T>A (p.Leu167His) c.398T>A (p.Leu133His) c.89T>A (p.Leu30His) | dbSNP |
22 | g.36265288T>C | CA411366516 | APOL1 | c.452T>C (p.Leu151Pro) c.*214T>C (n.*214T>C) c.539T>C (p.Leu180Pro) c.500T>C (p.Leu167Pro) c.398T>C (p.Leu133Pro) c.89T>C (p.Leu30Pro) | |
22 | g.36265288T>G | CA411366517 | APOL1 | c.452T>G (p.Leu151Arg) c.*214T>G (n.*214T>G) c.539T>G (p.Leu180Arg) c.500T>G (p.Leu167Arg) c.398T>G (p.Leu133Arg) c.89T>G (p.Leu30Arg) | |
22 | g.36265289T>A | CA514472738 | APOL1 | c.453T>A (p.Leu151=) c.*215T>A (n.*215T>A) c.540T>A (p.Leu180=) c.501T>A (p.Leu167=) c.399T>A (p.Leu133=) c.90T>A (p.Leu30=) | |
22 | g.36265289T>C | CA514472739 | APOL1 | c.453T>C (p.Leu151=) c.*215T>C (n.*215T>C) c.540T>C (p.Leu180=) c.501T>C (p.Leu167=) c.399T>C (p.Leu133=) c.90T>C (p.Leu30=) | |
22 | g.36265289T>G | CA514472740 | APOL1 | c.453T>G (p.Leu151=) c.*215T>G (n.*215T>G) c.540T>G (p.Leu180=) c.501T>G (p.Leu167=) c.399T>G (p.Leu133=) c.90T>G (p.Leu30=) | |
22 | g.36265290G>A | CA411366518 | APOL1 | c.454G>A (p.Glu152Lys) c.*216G>A (n.*216G>A) c.541G>A (p.Glu181Lys) c.502G>A (p.Glu168Lys) c.400G>A (p.Glu134Lys) c.91G>A (p.Glu31Lys) | gnomAD v4 |
22 | g.36265290G>C | CA411366519 | APOL1 | c.454G>C (p.Glu152Gln) c.*216G>C (n.*216G>C) c.541G>C (p.Glu181Gln) c.502G>C (p.Glu168Gln) c.400G>C (p.Glu134Gln) c.91G>C (p.Glu31Gln) | gnomAD v4 |
22 | g.36265290G>T | CA411366520 | APOL1 | c.454G>T (p.Glu152Ter) c.*216G>T (n.*216G>T) c.541G>T (p.Glu181Ter) c.502G>T (p.Glu168Ter) c.400G>T (p.Glu134Ter) c.91G>T (p.Glu31Ter) | |
22 | g.36265291A>C | CA411366523 | APOL1 | c.455A>C (p.Glu152Ala) c.*217A>C (n.*217A>C) c.542A>C (p.Glu181Ala) c.503A>C (p.Glu168Ala) c.401A>C (p.Glu134Ala) c.92A>C (p.Glu31Ala) | |
22 | g.36265291A>G | CA411366521 | APOL1 | c.455A>G (p.Glu152Gly) c.*217A>G (n.*217A>G) c.542A>G (p.Glu181Gly) c.503A>G (p.Glu168Gly) c.401A>G (p.Glu134Gly) c.92A>G (p.Glu31Gly) | gnomAD v4 |
22 | g.36265291A>T | CA411366522 | APOL1 | c.455A>T (p.Glu152Val) c.*217A>T (n.*217A>T) c.542A>T (p.Glu181Val) c.503A>T (p.Glu168Val) c.401A>T (p.Glu134Val) c.92A>T (p.Glu31Val) | |
22 | g.36265292G>A | CA323579582 | APOL1 | c.456G>A (p.Glu152=) c.*218G>A (n.*218G>A) c.543G>A (p.Glu181=) c.504G>A (p.Glu168=) c.402G>A (p.Glu134=) c.93G>A (p.Glu31=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36265292G>C | CA411366524 | APOL1 | c.456G>C (p.Glu152Asp) c.*218G>C (n.*218G>C) c.543G>C (p.Glu181Asp) c.504G>C (p.Glu168Asp) c.402G>C (p.Glu134Asp) c.93G>C (p.Glu31Asp) | gnomAD v4 |
22 | g.36265292G= | CA2403786682 | APOL1 | c.456G= (p.Glu152=) c.*218G= (n.*218G=) c.543G= (p.Glu181=) c.504G= (p.Glu168=) c.402G= (p.Glu134=) c.93G= (p.Glu31=) | |
22 | g.36265292G>T | CA411366525 | APOL1 | c.456G>T (p.Glu152Asp) c.*218G>T (n.*218G>T) c.543G>T (p.Glu181Asp) c.504G>T (p.Glu168Asp) c.402G>T (p.Glu134Asp) c.93G>T (p.Glu31Asp) | |
22 | g.36265293G>A | CA411366526 | APOL1 | c.457G>A (p.Asp153Asn) c.*219G>A (n.*219G>A) c.544G>A (p.Asp182Asn) c.505G>A (p.Asp169Asn) c.403G>A (p.Asp135Asn) c.94G>A (p.Asp32Asn) | |
22 | g.36265293G>C | CA411366527 | APOL1 | c.457G>C (p.Asp153His) c.*219G>C (n.*219G>C) c.544G>C (p.Asp182His) c.505G>C (p.Asp169His) c.403G>C (p.Asp135His) c.94G>C (p.Asp32His) | |
22 | g.36265293G>T | CA411366528 | APOL1 | c.457G>T (p.Asp153Tyr) c.*219G>T (n.*219G>T) c.544G>T (p.Asp182Tyr) c.505G>T (p.Asp169Tyr) c.403G>T (p.Asp135Tyr) c.94G>T (p.Asp32Tyr) | |
22 | g.36265294A= | CA2403786683 | APOL1 | c.458A= (p.Asp153=) c.*220A= (n.*220A=) c.545A= (p.Asp182=) c.506A= (p.Asp169=) c.404A= (p.Asp135=) c.95A= (p.Asp32=) | |
22 | g.36265294A>C | CA411366529 | APOL1 | c.458A>C (p.Asp153Ala) c.*220A>C (n.*220A>C) c.545A>C (p.Asp182Ala) c.506A>C (p.Asp169Ala) c.404A>C (p.Asp135Ala) c.95A>C (p.Asp32Ala) | |
22 | g.36265294A>G | CA10208681 | APOL1 | c.458A>G (p.Asp153Gly) c.*220A>G (n.*220A>G) c.545A>G (p.Asp182Gly) c.506A>G (p.Asp169Gly) c.404A>G (p.Asp135Gly) c.95A>G (p.Asp32Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36265294A>T | CA411366530 | APOL1 | c.458A>T (p.Asp153Val) c.*220A>T (n.*220A>T) c.545A>T (p.Asp182Val) c.506A>T (p.Asp169Val) c.404A>T (p.Asp135Val) c.95A>T (p.Asp32Val) | gnomAD v4 |
22 | g.36265295_36265296del | CA2656425056 | APOL1 | c.459_460del (p.Asp153GlufsTer?) c.*221_*222del (n.*221_*222del) c.546_547del (p.Asp182GlufsTer?) c.507_508del (p.Asp169GlufsTer?) c.405_406del (p.Asp135GlufsTer?) c.96_97del (p.Asp32GlufsTer?) | gnomAD v4 |
22 | g.36265295T>A | CA411366531 | APOL1 | c.459T>A (p.Asp153Glu) c.*221T>A (n.*221T>A) c.546T>A (p.Asp182Glu) c.507T>A (p.Asp169Glu) c.405T>A (p.Asp135Glu) c.96T>A (p.Asp32Glu) | |
22 | g.36265295T>C | CA514472747 | APOL1 | c.459T>C (p.Asp153=) c.*221T>C (n.*221T>C) c.546T>C (p.Asp182=) c.507T>C (p.Asp169=) c.405T>C (p.Asp135=) c.96T>C (p.Asp32=) | gnomAD v4 |
22 | g.36265295T>G | CA411366532 | APOL1 | c.459T>G (p.Asp153Glu) c.*221T>G (n.*221T>G) c.546T>G (p.Asp182Glu) c.507T>G (p.Asp169Glu) c.405T>G (p.Asp135Glu) c.96T>G (p.Asp32Glu) | |
22 | g.36265296A= | CA2403786684 | APOL1 | c.460A= (p.Asn154=) c.*222A= (n.*222A=) c.547A= (p.Asn183=) c.508A= (p.Asn170=) c.406A= (p.Asn136=) c.97A= (p.Asn33=) | |
22 | g.36265296A>C | CA411366533 | APOL1 | c.460A>C (p.Asn154His) c.*222A>C (n.*222A>C) c.547A>C (p.Asn183His) c.508A>C (p.Asn170His) c.406A>C (p.Asn136His) c.97A>C (p.Asn33His) | dbSNP |
22 | g.36265296A>G | CA411366534 | APOL1 | c.460A>G (p.Asn154Asp) c.*222A>G (n.*222A>G) c.547A>G (p.Asn183Asp) c.508A>G (p.Asn170Asp) c.406A>G (p.Asn136Asp) c.97A>G (p.Asn33Asp) | |
22 | g.36265296A>T | CA10208682 | APOL1 | c.460A>T (p.Asn154Tyr) c.*222A>T (n.*222A>T) c.547A>T (p.Asn183Tyr) c.508A>T (p.Asn170Tyr) c.406A>T (p.Asn136Tyr) c.97A>T (p.Asn33Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.36265297A>C | CA411366535 | APOL1 | c.461A>C (p.Asn154Thr) c.*223A>C (n.*223A>C) c.548A>C (p.Asn183Thr) c.509A>C (p.Asn170Thr) c.407A>C (p.Asn136Thr) c.98A>C (p.Asn33Thr) | |
22 | g.36265297A>G | CA411366536 | APOL1 | c.461A>G (p.Asn154Ser) c.*223A>G (n.*223A>G) c.548A>G (p.Asn183Ser) c.509A>G (p.Asn170Ser) c.407A>G (p.Asn136Ser) c.98A>G (p.Asn33Ser) | |
22 | g.36265297A>T | CA411366537 | APOL1 | c.461A>T (p.Asn154Ile) c.*223A>T (n.*223A>T) c.548A>T (p.Asn183Ile) c.509A>T (p.Asn170Ile) c.407A>T (p.Asn136Ile) c.98A>T (p.Asn33Ile) | |
22 | g.36265298C>A | CA411366538 | APOL1 | c.462C>A (p.Asn154Lys) c.*224C>A (n.*224C>A) c.549C>A (p.Asn183Lys) c.510C>A (p.Asn170Lys) c.408C>A (p.Asn136Lys) c.99C>A (p.Asn33Lys) | |
22 | g.36265298C= | CA2403786685 | APOL1 | c.462C= (p.Asn154=) c.*224C= (n.*224C=) c.549C= (p.Asn183=) c.510C= (p.Asn170=) c.408C= (p.Asn136=) c.99C= (p.Asn33=) |