| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.93905796_93905799del | CA2666657497 | PROS1 | c.590_593del (p.Lys197IlefsTer10) c.556+34_556+37del (n.556+34_556+37del) n.758_761del c.548_551del (p.Lys183IlefsTer10) c.689_692del (n.689_692del) c.686_689del (p.Lys229IlefsTer10) c.686_689del (p.Lys229IlefsTer?) c.197_200del (p.Lys66IlefsTer10) | gnomAD v4 |
| 3 | g.93905799T>A | CA353673398 | PROS1 | c.586A>T (p.Lys196Ter) c.556+30A>T (n.556+30A>T) n.754A>T c.544A>T (p.Lys182Ter) c.685A>T (n.685A>T) c.682A>T (p.Lys228Ter) c.193A>T (p.Lys65Ter) | |
| 3 | g.93905799T>C | CA123032 | PROS1 | c.586A>G (p.Lys196Glu) c.556+30A>G (n.556+30A>G) n.754A>G c.544A>G (p.Lys182Glu) c.685A>G (n.685A>G) c.682A>G (p.Lys228Glu) c.193A>G (p.Lys65Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93905799T>G | CA353673399 | PROS1 | c.586A>C (p.Lys196Gln) c.556+30A>C (n.556+30A>C) n.754A>C c.544A>C (p.Lys182Gln) c.685A>C (n.685A>C) c.682A>C (p.Lys228Gln) c.193A>C (p.Lys65Gln) | |
| 3 | g.93905799T= | CA1385042581 | PROS1 | c.586A= (p.Lys196=) c.556+30A= (n.556+30A=) n.754A= c.544A= (p.Lys182=) c.685A= (n.685A=) c.682A= (p.Lys228=) c.193A= (p.Lys65=) | |
| 3 | g.93905800A= | CA1385042582 | PROS1 | c.585T= (p.Asn195=) c.556+29T= (n.556+29T=) n.753T= c.543T= (p.Asn181=) c.684T= (n.684T=) c.681T= (p.Asn227=) c.192T= (p.Asn64=) | |
| 3 | g.93905800A>C | CA353673400 | PROS1 | c.585T>G (p.Asn195Lys) c.556+29T>G (n.556+29T>G) n.753T>G c.543T>G (p.Asn181Lys) c.684T>G (n.684T>G) c.681T>G (p.Asn227Lys) c.192T>G (p.Asn64Lys) | |
| 3 | g.93905800A>G | CA2503447 | PROS1 | c.585T>C (p.Asn195=) c.556+29T>C (n.556+29T>C) n.753T>C c.543T>C (p.Asn181=) c.684T>C (n.684T>C) c.681T>C (p.Asn227=) c.192T>C (p.Asn64=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93905800A>T | CA353673401 | PROS1 | c.585T>A (p.Asn195Lys) c.556+29T>A (n.556+29T>A) n.753T>A c.543T>A (p.Asn181Lys) c.684T>A (n.684T>A) c.681T>A (p.Asn227Lys) c.192T>A (p.Asn64Lys) | |
| 3 | g.93905801T>A | CA353673402 | PROS1 | c.584A>T (p.Asn195Ile) c.556+28A>T (n.556+28A>T) n.752A>T c.542A>T (p.Asn181Ile) c.683A>T (n.683A>T) c.680A>T (p.Asn227Ile) c.191A>T (p.Asn64Ile) | |
| 3 | g.93905801T>C | CA353673403 | PROS1 | c.584A>G (p.Asn195Ser) c.556+28A>G (n.556+28A>G) n.752A>G c.542A>G (p.Asn181Ser) c.683A>G (n.683A>G) c.680A>G (p.Asn227Ser) c.191A>G (p.Asn64Ser) | |
| 3 | g.93905801T>G | CA353673404 | PROS1 | c.584A>C (p.Asn195Thr) c.556+28A>C (n.556+28A>C) n.752A>C c.542A>C (p.Asn181Thr) c.683A>C (n.683A>C) c.680A>C (p.Asn227Thr) c.191A>C (p.Asn64Thr) | |
| 3 | g.93905801_93905809delinsTTTGAAAGC | CA1385042583 | PROS1 | c.576_584delinsGCTTTCAAA (p.Met192=) c.556+20_556+28delinsGCTTTCAAA (n.556+20_556+28delinsGCTTTCAAA) n.744_752delinsGCTTTCAAA c.534_542delinsGCTTTCAAA (p.Met178=) c.675_683delinsGCTTTCAAA (n.675_683delinsGCTTTCAAA) c.672_680delinsGCTTTCAAA (p.Met224=) c.183_191delinsGCTTTCAAA (p.Met61=) | |
| 3 | g.93905802T>A | CA353673405 | PROS1 | c.583A>T (p.Asn195Tyr) c.556+27A>T (n.556+27A>T) n.751A>T c.541A>T (p.Asn181Tyr) c.682A>T (n.682A>T) c.679A>T (p.Asn227Tyr) c.190A>T (p.Asn64Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.93905802T>C | CA353673406 | PROS1 | c.583A>G (p.Asn195Asp) c.556+27A>G (n.556+27A>G) n.751A>G c.541A>G (p.Asn181Asp) c.682A>G (n.682A>G) c.679A>G (p.Asn227Asp) c.190A>G (p.Asn64Asp) | gnomAD v4 |
| 3 | g.93905802T>G | CA353673407 | PROS1 | c.583A>C (p.Asn195His) c.556+27A>C (n.556+27A>C) n.751A>C c.541A>C (p.Asn181His) c.682A>C (n.682A>C) c.679A>C (p.Asn227His) c.190A>C (p.Asn64His) | |
| 3 | g.93905802T= | CA1385042584 | PROS1 | c.583A= (p.Asn195=) c.556+27A= (n.556+27A=) n.751A= c.541A= (p.Asn181=) c.682A= (n.682A=) c.679A= (p.Asn227=) c.190A= (p.Asn64=) | |
| 3 | g.93905802_93905809delinsGCTTTCA | CA78490898 | PROS1 | c.576_583delinsTGAAAGC (p.Met192IlefsTer16) c.556+20_556+27delinsTGAAAGC (n.556+20_556+27delinsTGAAAGC) n.744_751delinsTGAAAGC c.534_541delinsTGAAAGC (p.Met178IlefsTer16) c.675_682delinsTGAAAGC (n.675_682delinsTGAAAGC) c.672_679delinsTGAAAGC (p.Met224IlefsTer16) c.672_679delinsTGAAAGC (p.Met224IlefsTer?) c.183_190delinsTGAAAGC (p.Met61IlefsTer16) | dbSNP |
| 3 | g.93905803T>A | CA434626153 | PROS1 | c.582A>T (p.Ser194=) c.556+26A>T (n.556+26A>T) n.750A>T c.540A>T (p.Ser180=) c.681A>T (n.681A>T) c.678A>T (p.Ser226=) c.189A>T (p.Ser63=) | |
| 3 | g.93905803T>C | CA434626155 | PROS1 | c.582A>G (p.Ser194=) c.556+26A>G (n.556+26A>G) n.750A>G c.540A>G (p.Ser180=) c.681A>G (n.681A>G) c.678A>G (p.Ser226=) c.189A>G (p.Ser63=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.93905803T>G | CA434626157 | PROS1 | c.582A>C (p.Ser194=) c.556+26A>C (n.556+26A>C) n.750A>C c.540A>C (p.Ser180=) c.681A>C (n.681A>C) c.678A>C (p.Ser226=) c.189A>C (p.Ser63=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.93905803T= | CA1385042585 | PROS1 | c.582A= (p.Ser194=) c.556+26A= (n.556+26A=) n.750A= c.540A= (p.Ser180=) c.681A= (n.681A=) c.678A= (p.Ser226=) c.189A= (p.Ser63=) | |
| 3 | g.93905804G>A | CA353673408 | PROS1 | c.581C>T (p.Ser194Leu) c.556+25C>T (n.556+25C>T) n.749C>T c.539C>T (p.Ser180Leu) c.680C>T (n.680C>T) c.677C>T (p.Ser226Leu) c.188C>T (p.Ser63Leu) | |
| 3 | g.93905804G>C | CA353673409 | PROS1 | c.581C>G (p.Ser194Ter) c.556+25C>G (n.556+25C>G) n.749C>G c.539C>G (p.Ser180Ter) c.680C>G (n.680C>G) c.677C>G (p.Ser226Ter) c.188C>G (p.Ser63Ter) | COSMIC |
| 3 | g.93905804G= | CA1385042586 | PROS1 | c.581C= (p.Ser194=) c.556+25C= (n.556+25C=) n.749C= c.539C= (p.Ser180=) c.680C= (n.680C=) c.677C= (p.Ser226=) c.188C= (p.Ser63=) | |
| 3 | g.93905804G>T | CA353673410 | PROS1 | c.581C>A (p.Ser194Ter) c.556+25C>A (n.556+25C>A) n.749C>A c.539C>A (p.Ser180Ter) c.680C>A (n.680C>A) c.677C>A (p.Ser226Ter) c.188C>A (p.Ser63Ter) | ClinVar dbSNP |
| 3 | g.93905805A>C | CA353673411 | PROS1 | c.580T>G (p.Ser194Ala) c.556+24T>G (n.556+24T>G) n.748T>G c.538T>G (p.Ser180Ala) c.679T>G (n.679T>G) c.676T>G (p.Ser226Ala) c.187T>G (p.Ser63Ala) | |
| 3 | g.93905805A>G | CA353673412 | PROS1 | c.580T>C (p.Ser194Pro) c.556+24T>C (n.556+24T>C) n.748T>C c.538T>C (p.Ser180Pro) c.679T>C (n.679T>C) c.676T>C (p.Ser226Pro) c.187T>C (p.Ser63Pro) | |
| 3 | g.93905805A>T | CA353673413 | PROS1 | c.580T>A (p.Ser194Thr) c.556+24T>A (n.556+24T>A) n.748T>A c.538T>A (p.Ser180Thr) c.679T>A (n.679T>A) c.676T>A (p.Ser226Thr) c.187T>A (p.Ser63Thr) | |
| 3 | g.93905807del | CA2586972711 | PROS1 | c.580del (p.Ser194GlnfsTer14) c.556+24del (n.556+24del) n.748del c.538del (p.Ser180GlnfsTer14) c.679del (n.679del) c.676del (p.Ser226GlnfsTer14) c.676del (p.Ser226GlnfsTer?) c.187del (p.Ser63GlnfsTer14) | |
| 3 | g.93905806A= | CA1385042587 | PROS1 | c.579T= (p.Leu193=) c.556+23T= (n.556+23T=) n.747T= c.537T= (p.Leu179=) c.678T= (n.678T=) c.675T= (p.Leu225=) c.186T= (p.Leu62=) | |
| 3 | g.93905806A>C | CA434626160 | PROS1 | c.579T>G (p.Leu193=) c.556+23T>G (n.556+23T>G) n.747T>G c.537T>G (p.Leu179=) c.678T>G (n.678T>G) c.675T>G (p.Leu225=) c.186T>G (p.Leu62=) | |
| 3 | g.93905806A>G | CA2503448 | PROS1 | c.579T>C (p.Leu193=) c.556+23T>C (n.556+23T>C) n.747T>C c.537T>C (p.Leu179=) c.678T>C (n.678T>C) c.675T>C (p.Leu225=) c.186T>C (p.Leu62=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93905806A>T | CA434626163 | PROS1 | c.579T>A (p.Leu193=) c.556+23T>A (n.556+23T>A) n.747T>A c.537T>A (p.Leu179=) c.678T>A (n.678T>A) c.675T>A (p.Leu225=) c.186T>A (p.Leu62=) | |
| 3 | g.93905807A= | CA1385042588 | PROS1 | c.578T= (p.Leu193=) c.556+22T= (n.556+22T=) n.746T= c.536T= (p.Leu179=) c.677T= (n.677T=) c.674T= (p.Leu225=) c.185T= (p.Leu62=) | |
| 3 | g.93905807A>C | CA353673415 | PROS1 | c.578T>G (p.Leu193Arg) c.556+22T>G (n.556+22T>G) n.746T>G c.536T>G (p.Leu179Arg) c.677T>G (n.677T>G) c.674T>G (p.Leu225Arg) c.185T>G (p.Leu62Arg) | gnomAD v3 gnomAD v4 |
| 3 | g.93905807A>G | CA2503449 | PROS1 | c.578T>C (p.Leu193Pro) c.556+22T>C (n.556+22T>C) n.746T>C c.536T>C (p.Leu179Pro) c.677T>C (n.677T>C) c.674T>C (p.Leu225Pro) c.185T>C (p.Leu62Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.93905807A>T | CA353673414 | PROS1 | c.578T>A (p.Leu193His) c.556+22T>A (n.556+22T>A) n.746T>A c.536T>A (p.Leu179His) c.677T>A (n.677T>A) c.674T>A (p.Leu225His) c.185T>A (p.Leu62His) | |
| 3 | g.93905808G>A | CA353673416 | PROS1 | c.577C>T (p.Leu193Phe) c.556+21C>T (n.556+21C>T) n.745C>T c.535C>T (p.Leu179Phe) c.676C>T (n.676C>T) c.673C>T (p.Leu225Phe) c.184C>T (p.Leu62Phe) | gnomAD v4 |
| 3 | g.93905808G>C | CA353673417 | PROS1 | c.577C>G (p.Leu193Val) c.556+21C>G (n.556+21C>G) n.745C>G c.535C>G (p.Leu179Val) c.676C>G (n.676C>G) c.673C>G (p.Leu225Val) c.184C>G (p.Leu62Val) | |
| 3 | g.93905808G>T | CA353673418 | PROS1 | c.577C>A (p.Leu193Ile) c.556+21C>A (n.556+21C>A) n.745C>A c.535C>A (p.Leu179Ile) c.676C>A (n.676C>A) c.673C>A (p.Leu225Ile) c.184C>A (p.Leu62Ile) | |
| 3 | g.93905809C>A | CA353673419 | PROS1 | c.576G>T (p.Met192Ile) c.556+20G>T (n.556+20G>T) n.744G>T c.534G>T (p.Met178Ile) c.675G>T (n.675G>T) c.672G>T (p.Met224Ile) c.183G>T (p.Met61Ile) | |
| 3 | g.93905809C>G | CA353673420 | PROS1 | c.576G>C (p.Met192Ile) c.556+20G>C (n.556+20G>C) n.744G>C c.534G>C (p.Met178Ile) c.675G>C (n.675G>C) c.672G>C (p.Met224Ile) c.183G>C (p.Met61Ile) | |
| 3 | g.93905809C>T | CA353673421 | PROS1 | c.576G>A (p.Met192Ile) c.556+20G>A (n.556+20G>A) n.744G>A c.534G>A (p.Met178Ile) c.675G>A (n.675G>A) c.672G>A (p.Met224Ile) c.183G>A (p.Met61Ile) | |
| 3 | g.93905810A>C | CA353673422 | PROS1 | c.575T>G (p.Met192Arg) c.556+19T>G (n.556+19T>G) n.743T>G c.533T>G (p.Met178Arg) c.674T>G (n.674T>G) c.671T>G (p.Met224Arg) c.182T>G (p.Met61Arg) | |
| 3 | g.93905810A>G | CA353673423 | PROS1 | c.575T>C (p.Met192Thr) c.556+19T>C (n.556+19T>C) n.743T>C c.533T>C (p.Met178Thr) c.674T>C (n.674T>C) c.671T>C (p.Met224Thr) c.182T>C (p.Met61Thr) | |
| 3 | g.93905810A>T | CA353673424 | PROS1 | c.575T>A (p.Met192Lys) c.556+19T>A (n.556+19T>A) n.743T>A c.533T>A (p.Met178Lys) c.674T>A (n.674T>A) c.671T>A (p.Met224Lys) c.182T>A (p.Met61Lys) | |
| 3 | g.93905811T>A | CA353673425 | PROS1 | c.574A>T (p.Met192Leu) c.556+18A>T (n.556+18A>T) n.742A>T c.532A>T (p.Met178Leu) c.673A>T (n.673A>T) c.670A>T (p.Met224Leu) c.181A>T (p.Met61Leu) | gnomAD v4 |
| 3 | g.93905811T>C | CA353673426 | PROS1 | c.574A>G (p.Met192Val) c.556+18A>G (n.556+18A>G) n.742A>G c.532A>G (p.Met178Val) c.673A>G (n.673A>G) c.670A>G (p.Met224Val) c.181A>G (p.Met61Val) | COSMIC |
| 3 | g.93905811T>G | CA353673427 | PROS1 | c.574A>C (p.Met192Leu) c.556+18A>C (n.556+18A>C) n.742A>C c.532A>C (p.Met178Leu) c.673A>C (n.673A>C) c.670A>C (p.Met224Leu) c.181A>C (p.Met61Leu) |