UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.229432280_229432289del | CA2698260228 | ACTA1 | c.597_606del (p.Tyr200Ter) c.462_471del (p.Tyr155Ter) c.479+118_479+127del (n.479+118_479+127del) | dbSNP |
| 1 | g.229432285A>C | CA345147849 | ACTA1 | c.601T>G (p.Ser201Ala) c.466T>G (p.Ser156Ala) c.479+122T>G (n.479+122T>G) | |
| 1 | g.229432285A>G | CA345147853 | ACTA1 | c.601T>C (p.Ser201Pro) c.466T>C (p.Ser156Pro) c.479+122T>C (n.479+122T>C) | |
| 1 | g.229432285A>T | CA345147846 | ACTA1 | c.601T>A (p.Ser201Thr) c.466T>A (p.Ser156Thr) c.479+122T>A (n.479+122T>A) | |
| 1 | g.229432286G>A | CA423755337 | ACTA1 | c.600C>T (p.Tyr200=) c.465C>T (p.Tyr155=) c.479+121C>T (n.479+121C>T) | |
| 1 | g.229432286G>C | CA345147857 | ACTA1 | c.600C>G (p.Tyr200Ter) c.465C>G (p.Tyr155Ter) c.479+121C>G (n.479+121C>G) | |
| 1 | g.229432286G>T | CA345147863 | ACTA1 | c.600C>A (p.Tyr200Ter) c.465C>A (p.Tyr155Ter) c.479+121C>A (n.479+121C>A) | |
| 1 | g.229432287T>A | CA345147864 | ACTA1 | c.599A>T (p.Tyr200Phe) c.464A>T (p.Tyr155Phe) c.479+120A>T (n.479+120A>T) | |
| 1 | g.229432287T>C | CA345147865 | ACTA1 | c.599A>G (p.Tyr200Cys) c.464A>G (p.Tyr155Cys) c.479+120A>G (n.479+120A>G) | ClinVar dbSNP |
| 1 | g.229432287T>G | CA345147867 | ACTA1 | c.599A>C (p.Tyr200Ser) c.464A>C (p.Tyr155Ser) c.479+120A>C (n.479+120A>C) | |
| 1 | g.229432288A= | CA1226125725 | ACTA1 | c.598T= (p.Tyr200=) c.463T= (p.Tyr155=) c.479+119T= (n.479+119T=) | |
| 1 | g.229432288A>C | CA345147869 | ACTA1 | c.598T>G (p.Tyr200Asp) c.463T>G (p.Tyr155Asp) c.479+119T>G (n.479+119T>G) | |
| 1 | g.229432288A>G | CA345147877 | ACTA1 | c.598T>C (p.Tyr200His) c.463T>C (p.Tyr155His) c.479+119T>C (n.479+119T>C) | |
| 1 | g.229432288A>T | CA345147880 | ACTA1 | c.598T>A (p.Tyr200Asn) c.463T>A (p.Tyr155Asn) c.479+119T>A (n.479+119T>A) | ClinVar dbSNP |
| 1 | g.229432289G>A | CA423755344 | ACTA1 | c.597C>T (p.Gly199=) c.462C>T (p.Gly154=) c.479+118C>T (n.479+118C>T) | |
| 1 | g.229432289G>C | CA423755347 | ACTA1 | c.597C>G (p.Gly199=) c.462C>G (p.Gly154=) c.479+118C>G (n.479+118C>G) | |
| 1 | g.229432289G= | CA1226125726 | ACTA1 | c.597C= (p.Gly199=) c.462C= (p.Gly154=) c.479+118C= (n.479+118C=) | |
| 1 | g.229432289G>T | CA423755345 | ACTA1 | c.597C>A (p.Gly199=) c.462C>A (p.Gly154=) c.479+118C>A (n.479+118C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432290C>A | CA345147881 | ACTA1 | c.596G>T (p.Gly199Val) c.461G>T (p.Gly154Val) c.479+117G>T (n.479+117G>T) | |
| 1 | g.229432290C>G | CA345147882 | ACTA1 | c.596G>C (p.Gly199Ala) c.461G>C (p.Gly154Ala) c.479+117G>C (n.479+117G>C) | |
| 1 | g.229432290C>T | CA345147885 | ACTA1 | c.596G>A (p.Gly199Asp) c.461G>A (p.Gly154Asp) c.479+117G>A (n.479+117G>A) | |
| 1 | g.229432291C>A | CA345147889 | ACTA1 | c.595G>T (p.Gly199Cys) c.460G>T (p.Gly154Cys) c.479+116G>T (n.479+116G>T) | |
| 1 | g.229432291C>G | CA345147892 | ACTA1 | c.595G>C (p.Gly199Arg) c.460G>C (p.Gly154Arg) c.479+116G>C (n.479+116G>C) | |
| 1 | g.229432291C>T | CA345147893 | ACTA1 | c.595G>A (p.Gly199Ser) c.460G>A (p.Gly154Ser) c.479+116G>A (n.479+116G>A) | |
| 1 | g.229432292A= | CA1226125727 | ACTA1 | c.594T= (p.Arg198=) c.459T= (p.Arg153=) c.479+115T= (n.479+115T=) | |
| 1 | g.229432292A>C | CA423755351 | ACTA1 | c.594T>G (p.Arg198=) c.459T>G (p.Arg153=) c.479+115T>G (n.479+115T>G) | |
| 1 | g.229432292A>G | CA423755352 | ACTA1 | c.594T>C (p.Arg198=) c.459T>C (p.Arg153=) c.479+115T>C (n.479+115T>C) | |
| 1 | g.229432292A>T | CA423755353 | ACTA1 | c.594T>A (p.Arg198=) c.459T>A (p.Arg153=) c.479+115T>A (n.479+115T>A) | dbSNP |
| 1 | g.229432293C>A | CA345147899 | ACTA1 | c.593G>T (p.Arg198Leu) c.458G>T (p.Arg153Leu) c.479+114G>T (n.479+114G>T) | |
| 1 | g.229432293C>G | CA345147894 | ACTA1 | c.593G>C (p.Arg198Pro) c.458G>C (p.Arg153Pro) c.479+114G>C (n.479+114G>C) | |
| 1 | g.229432293C>T | CA345147895 | ACTA1 | c.593G>A (p.Arg198His) c.458G>A (p.Arg153His) c.479+114G>A (n.479+114G>A) | ClinVar |
| 1 | g.229432294G>A | CA345147910 | ACTA1 | c.592C>T (p.Arg198Cys) c.457C>T (p.Arg153Cys) c.479+113C>T (n.479+113C>T) | ClinVar dbSNP COSMIC |
| 1 | g.229432294G>C | CA345147914 | ACTA1 | c.592C>G (p.Arg198Gly) c.457C>G (p.Arg153Gly) c.479+113C>G (n.479+113C>G) | |
| 1 | g.229432294G= | CA1226125728 | ACTA1 | c.592C= (p.Arg198=) c.457C= (p.Arg153=) c.479+113C= (n.479+113C=) | |
| 1 | g.229432294G>T | CA345147924 | ACTA1 | c.592C>A (p.Arg198Ser) c.457C>A (p.Arg153Ser) c.479+113C>A (n.479+113C>A) | dbSNP |
| 1 | g.229432295C>A | CA353465 | ACTA1 | c.591G>T (p.Glu197Asp) c.456G>T (p.Glu152Asp) c.479+112G>T (n.479+112G>T) | ClinVar dbSNP |
| 1 | g.229432295C= | CA1226125729 | ACTA1 | c.591G= (p.Glu197=) c.456G= (p.Glu152=) c.479+112G= (n.479+112G=) | |
| 1 | g.229432295C>G | CA345147944 | ACTA1 | c.591G>C (p.Glu197Asp) c.456G>C (p.Glu152Asp) c.479+112G>C (n.479+112G>C) | ClinVar dbSNP |
| 1 | g.229432295C>T | CA423755361 | ACTA1 | c.591G>A (p.Glu197=) c.456G>A (p.Glu152=) c.479+112G>A (n.479+112G>A) | gnomAD v4 |
| 1 | g.229432296T>A | CA345147950 | ACTA1 | c.590A>T (p.Glu197Val) c.455A>T (p.Glu152Val) c.479+111A>T (n.479+111A>T) | |
| 1 | g.229432296T>C | CA345147954 | ACTA1 | c.590A>G (p.Glu197Gly) c.455A>G (p.Glu152Gly) c.479+111A>G (n.479+111A>G) | |
| 1 | g.229432296T>G | CA345147971 | ACTA1 | c.590A>C (p.Glu197Ala) c.455A>C (p.Glu152Ala) c.479+111A>C (n.479+111A>C) | |
| 1 | g.229432296_229432305delinsTCAGTGAGGA | CA1226125730 | ACTA1 | c.581_590delinsTCCTCACTGA (p.Ile194=) c.446_455delinsTCCTCACTGA (p.Ile149=) c.479+102_479+111delinsTCCTCACTGA (n.479+102_479+111delinsTCCTCACTGA) | |
| 1 | g.229432297C>A | CA345147984 | ACTA1 | c.589G>T (p.Glu197Ter) c.454G>T (p.Glu152Ter) c.479+110G>T (n.479+110G>T) | |
| 1 | g.229432297C>G | CA345147987 | ACTA1 | c.589G>C (p.Glu197Gln) c.454G>C (p.Glu152Gln) c.479+110G>C (n.479+110G>C) | |
| 1 | g.229432297C>T | CA345147989 | ACTA1 | c.589G>A (p.Glu197Lys) c.454G>A (p.Glu152Lys) c.479+110G>A (n.479+110G>A) | |
| 1 | g.229432297_229432305del | CA915940831 | ACTA1 | c.581_589del (p.Ile194_Glu197delinsLys) c.446_454del (p.Ile149_Glu152delinsLys) c.479+102_479+110del (n.479+102_479+110del) | ClinVar dbSNP |
| 1 | g.229432298A= | CA1226125731 | ACTA1 | c.588T= (p.Thr196=) c.453T= (p.Thr151=) c.479+109T= (n.479+109T=) | |
| 1 | g.229432298A>C | CA423755367 | ACTA1 | c.588T>G (p.Thr196=) c.453T>G (p.Thr151=) c.479+109T>G (n.479+109T>G) | |
| 1 | g.229432298A>G | CA38815865 | ACTA1 | c.588T>C (p.Thr196=) c.453T>C (p.Thr151=) c.479+109T>C (n.479+109T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432298A>T | CA423755368 | ACTA1 | c.588T>A (p.Thr196=) c.453T>A (p.Thr151=) c.479+109T>A (n.479+109T>A) | dbSNP gnomAD v4 |
| 1 | g.229432299G>A | CA345148018 | ACTA1 | c.587C>T (p.Thr196Ile) c.452C>T (p.Thr151Ile) c.479+108C>T (n.479+108C>T) | ClinVar dbSNP |
| 1 | g.229432299G>C | CA345148002 | ACTA1 | c.587C>G (p.Thr196Ser) c.452C>G (p.Thr151Ser) c.479+108C>G (n.479+108C>G) | |
| 1 | g.229432299G>T | CA345147999 | ACTA1 | c.587C>A (p.Thr196Asn) c.452C>A (p.Thr151Asn) c.479+108C>A (n.479+108C>A) | |
| 1 | g.229432300T>A | CA345148036 | ACTA1 | c.586A>T (p.Thr196Ser) c.451A>T (p.Thr151Ser) c.479+107A>T (n.479+107A>T) | |
| 1 | g.229432300T>C | CA345148027 | ACTA1 | c.586A>G (p.Thr196Ala) c.451A>G (p.Thr151Ala) c.479+107A>G (n.479+107A>G) | COSMIC |
| 1 | g.229432300T>G | CA345148031 | ACTA1 | c.586A>C (p.Thr196Pro) c.451A>C (p.Thr151Pro) c.479+107A>C (n.479+107A>C) | ClinVar |
| 1 | g.229432301G>A | CA423755373 | ACTA1 | c.585C>T (p.Leu195=) c.450C>T (p.Leu150=) c.479+106C>T (n.479+106C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432301G>C | CA423755370 | ACTA1 | c.585C>G (p.Leu195=) c.450C>G (p.Leu150=) c.479+106C>G (n.479+106C>G) | |
| 1 | g.229432301G= | CA1226125732 | ACTA1 | c.585C= (p.Leu195=) c.450C= (p.Leu150=) c.479+106C= (n.479+106C=) | |
| 1 | g.229432301G>T | CA423755371 | ACTA1 | c.585C>A (p.Leu195=) c.450C>A (p.Leu150=) c.479+106C>A (n.479+106C>A) | |
| 1 | g.229432302A>C | CA345148045 | ACTA1 | c.584T>G (p.Leu195Arg) c.449T>G (p.Leu150Arg) c.479+105T>G (n.479+105T>G) | |
| 1 | g.229432302A>G | CA345148049 | ACTA1 | c.584T>C (p.Leu195Pro) c.449T>C (p.Leu150Pro) c.479+105T>C (n.479+105T>C) | |
| 1 | g.229432302A>T | CA345148052 | ACTA1 | c.584T>A (p.Leu195His) c.449T>A (p.Leu150His) c.479+105T>A (n.479+105T>A) | |
| 1 | g.229432303G>A | CA345148055 | ACTA1 | c.583C>T (p.Leu195Phe) c.448C>T (p.Leu150Phe) c.479+104C>T (n.479+104C>T) | gnomAD v4 |
| 1 | g.229432303G>C | CA345148056 | ACTA1 | c.583C>G (p.Leu195Val) c.448C>G (p.Leu150Val) c.479+104C>G (n.479+104C>G) | ClinVar dbSNP |
| 1 | g.229432303G>T | CA345148057 | ACTA1 | c.583C>A (p.Leu195Ile) c.448C>A (p.Leu150Ile) c.479+104C>A (n.479+104C>A) | |
| 1 | g.229432304del | CA2650926671 | ACTA1 | c.583del (p.Leu195SerfsTer9) c.448del (p.Leu150SerfsTer9) c.479+104del (n.479+104del) | gnomAD v4 |
| 1 | g.229432304G>A | CA423755379 | ACTA1 | c.582C>T (p.Ile194=) c.447C>T (p.Ile149=) c.479+103C>T (n.479+103C>T) | COSMIC |
| 1 | g.229432304G>C | CA345148058 | ACTA1 | c.582C>G (p.Ile194Met) c.447C>G (p.Ile149Met) c.479+103C>G (n.479+103C>G) | |
| 1 | g.229432304G>T | CA423755377 | ACTA1 | c.582C>A (p.Ile194=) c.447C>A (p.Ile149=) c.479+103C>A (n.479+103C>A) | |
| 1 | g.229432305A>C | CA345148075 | ACTA1 | c.581T>G (p.Ile194Ser) c.446T>G (p.Ile149Ser) c.479+102T>G (n.479+102T>G) | gnomAD v4 |
| 1 | g.229432305A>G | CA345148090 | ACTA1 | c.581T>C (p.Ile194Thr) c.446T>C (p.Ile149Thr) c.479+102T>C (n.479+102T>C) | gnomAD v4 |
| 1 | g.229432305A>T | CA345148095 | ACTA1 | c.581T>A (p.Ile194Asn) c.446T>A (p.Ile149Asn) c.479+102T>A (n.479+102T>A) | |
| 1 | g.229432306T>A | CA345148100 | ACTA1 | c.580A>T (p.Ile194Phe) c.445A>T (p.Ile149Phe) c.479+101A>T (n.479+101A>T) | |
| 1 | g.229432306T>C | CA345148103 | ACTA1 | c.580A>G (p.Ile194Val) c.445A>G (p.Ile149Val) c.479+101A>G (n.479+101A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432306T>G | CA345148099 | ACTA1 | c.580A>C (p.Ile194Leu) c.445A>C (p.Ile149Leu) c.479+101A>C (n.479+101A>C) | |
| 1 | g.229432306T= | CA1226125733 | ACTA1 | c.580A= (p.Ile194=) c.445A= (p.Ile149=) c.479+101A= (n.479+101A=) | |
| 1 | g.229432307_229432308del | CA2650926672 | ACTA1 | c.579_580del (p.Lys193AsnfsTer4) c.444_445del (p.Lys148AsnfsTer4) c.479+100_479+101del (n.479+100_479+101del) | gnomAD v4 |
| 1 | g.229432307C>A | CA345148108 | ACTA1 | c.579G>T (p.Lys193Asn) c.444G>T (p.Lys148Asn) c.479+100G>T (n.479+100G>T) | |
| 1 | g.229432307C= | CA1226125734 | ACTA1 | c.579G= (p.Lys193=) c.444G= (p.Lys148=) c.479+100G= (n.479+100G=) | |
| 1 | g.229432307C>G | CA345148111 | ACTA1 | c.579G>C (p.Lys193Asn) c.444G>C (p.Lys148Asn) c.479+100G>C (n.479+100G>C) | |
| 1 | g.229432307C>T | CA423755387 | ACTA1 | c.579G>A (p.Lys193=) c.444G>A (p.Lys148=) c.479+100G>A (n.479+100G>A) | dbSNP |
| 1 | g.229432308T>A | CA345148116 | ACTA1 | c.578A>T (p.Lys193Met) c.443A>T (p.Lys148Met) c.479+99A>T (n.479+99A>T) | |
| 1 | g.229432308T>C | CA345148124 | ACTA1 | c.578A>G (p.Lys193Arg) c.443A>G (p.Lys148Arg) c.479+99A>G (n.479+99A>G) | |
| 1 | g.229432308T>G | CA345148127 | ACTA1 | c.578A>C (p.Lys193Thr) c.443A>C (p.Lys148Thr) c.479+99A>C (n.479+99A>C) | |
| 1 | g.229432308_229432311delinsTTCA | CA1226125735 | ACTA1 | c.575_578delinsTGAA (p.Met192=) c.440_443delinsTGAA (p.Met147=) c.479+96_479+99delinsTGAA (n.479+96_479+99delinsTGAA) | |
| 1 | g.229432309T>A | CA345148143 | ACTA1 | c.577A>T (p.Lys193Ter) c.442A>T (p.Lys148Ter) c.479+98A>T (n.479+98A>T) | |
| 1 | g.229432309T>C | CA345148135 | ACTA1 | c.577A>G (p.Lys193Glu) c.442A>G (p.Lys148Glu) c.479+98A>G (n.479+98A>G) | |
| 1 | g.229432309T>G | CA345148137 | ACTA1 | c.577A>C (p.Lys193Gln) c.442A>C (p.Lys148Gln) c.479+98A>C (n.479+98A>C) | |
| 1 | g.229432312_229432314del | CA732580649 | ACTA1 | c.575_577del (p.Met192del) c.440_442del (p.Met147del) c.479+96_479+98del (n.479+96_479+98del) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432310C>A | CA345148144 | ACTA1 | c.576G>T (p.Met192Ile) c.441G>T (p.Met147Ile) c.479+97G>T (n.479+97G>T) | |
| 1 | g.229432310C>G | CA345148146 | ACTA1 | c.576G>C (p.Met192Ile) c.441G>C (p.Met147Ile) c.479+97G>C (n.479+97G>C) | |
| 1 | g.229432310C>T | CA345148149 | ACTA1 | c.576G>A (p.Met192Ile) c.441G>A (p.Met147Ile) c.479+97G>A (n.479+97G>A) | gnomAD v4 |
| 1 | g.229432311A= | CA1226125736 | ACTA1 | c.575T= (p.Met192=) c.440T= (p.Met147=) c.479+96T= (n.479+96T=) | |
| 1 | g.229432311A>C | CA345148157 | ACTA1 | c.575T>G (p.Met192Arg) c.440T>G (p.Met147Arg) c.479+96T>G (n.479+96T>G) | |
| 1 | g.229432311A>G | CA16603576 | ACTA1 | c.575T>C (p.Met192Thr) c.440T>C (p.Met147Thr) c.479+96T>C (n.479+96T>C) | ClinVar dbSNP |
| 1 | g.229432311A>T | CA345148160 | ACTA1 | c.575T>A (p.Met192Lys) c.440T>A (p.Met147Lys) c.479+96T>A (n.479+96T>A) | gnomAD v4 |
| 1 | g.229432312del | CA2650926673 | ACTA1 | c.574del (p.Met192Ter) c.439del (p.Met147Ter) c.479+95del (n.479+95del) | gnomAD v4 |
| 1 | g.229432312T>A | CA345148170 | ACTA1 | c.574A>T (p.Met192Leu) c.439A>T (p.Met147Leu) c.479+95A>T (n.479+95A>T) | |
| 1 | g.229432312T>C | CA345148174 | ACTA1 | c.574A>G (p.Met192Val) c.439A>G (p.Met147Val) c.479+95A>G (n.479+95A>G) | |
| 1 | g.229432312T>G | CA345148165 | ACTA1 | c.574A>C (p.Met192Leu) c.439A>C (p.Met147Leu) c.479+95A>C (n.479+95A>C) | |
| 1 | g.229432313C>A | CA423755392 | ACTA1 | c.573G>T (p.Leu191=) c.438G>T (p.Leu146=) c.479+94G>T (n.479+94G>T) | dbSNP |
| 1 | g.229432313C= | CA1226125737 | ACTA1 | c.573G= (p.Leu191=) c.438G= (p.Leu146=) c.479+94G= (n.479+94G=) | |
| 1 | g.229432313C>G | CA423755393 | ACTA1 | c.573G>C (p.Leu191=) c.438G>C (p.Leu146=) c.479+94G>C (n.479+94G>C) | |
| 1 | g.229432313C>T | CA423755396 | ACTA1 | c.573G>A (p.Leu191=) c.438G>A (p.Leu146=) c.479+94G>A (n.479+94G>A) | gnomAD v4 |
| 1 | g.229432314A>C | CA345148178 | ACTA1 | c.572T>G (p.Leu191Arg) c.437T>G (p.Leu146Arg) c.479+93T>G (n.479+93T>G) | |
| 1 | g.229432314A>G | CA345148180 | ACTA1 | c.572T>C (p.Leu191Pro) c.437T>C (p.Leu146Pro) c.479+93T>C (n.479+93T>C) | |
| 1 | g.229432314A>T | CA345148179 | ACTA1 | c.572T>A (p.Leu191Gln) c.437T>A (p.Leu146Gln) c.479+93T>A (n.479+93T>A) | |
| 1 | g.229432314_229432315insAT | CA2698260341 | ACTA1 | c.571_572insAT (p.Leu191HisfsTer2) c.436_437insAT (p.Leu146HisfsTer2) c.479+92_479+93insAT (n.479+92_479+93insAT) | dbSNP |
| 1 | g.229432315G>A | CA423755399 | ACTA1 | c.571C>T (p.Leu191=) c.436C>T (p.Leu146=) c.479+92C>T (n.479+92C>T) | |
| 1 | g.229432315G>C | CA345148184 | ACTA1 | c.571C>G (p.Leu191Val) c.436C>G (p.Leu146Val) c.479+92C>G (n.479+92C>G) | |
| 1 | g.229432315G>T | CA345148195 | ACTA1 | c.571C>A (p.Leu191Met) c.436C>A (p.Leu146Met) c.479+92C>A (n.479+92C>A) | |
| 1 | g.229432316G>A | CA423755401 | ACTA1 | c.570C>T (p.Tyr190=) c.435C>T (p.Tyr145=) c.479+91C>T (n.479+91C>T) | gnomAD v4 |
| 1 | g.229432316G>C | CA345148199 | ACTA1 | c.570C>G (p.Tyr190Ter) c.435C>G (p.Tyr145Ter) c.479+91C>G (n.479+91C>G) | |
| 1 | g.229432316G>T | CA345148200 | ACTA1 | c.570C>A (p.Tyr190Ter) c.435C>A (p.Tyr145Ter) c.479+91C>A (n.479+91C>A) | |
| 1 | g.229432316_229432317del | CA2698260386 | ACTA1 | c.569_570del (p.Tyr190SerfsTer7) c.434_435del (p.Tyr145SerfsTer7) c.479+90_479+91del (n.479+90_479+91del) | dbSNP |
| 1 | g.229432317T>A | CA345148202 | ACTA1 | c.569A>T (p.Tyr190Phe) c.434A>T (p.Tyr145Phe) c.479+90A>T (n.479+90A>T) | |
| 1 | g.229432317T>C | CA345148203 | ACTA1 | c.569A>G (p.Tyr190Cys) c.434A>G (p.Tyr145Cys) c.479+90A>G (n.479+90A>G) | |
| 1 | g.229432317T>G | CA345148208 | ACTA1 | c.569A>C (p.Tyr190Ser) c.434A>C (p.Tyr145Ser) c.479+90A>C (n.479+90A>C) | |
| 1 | g.229432318A= | CA1226125738 | ACTA1 | c.568T= (p.Tyr190=) c.433T= (p.Tyr145=) c.479+89T= (n.479+89T=) | |
| 1 | g.229432318A>C | CA345148224 | ACTA1 | c.568T>G (p.Tyr190Asp) c.433T>G (p.Tyr145Asp) c.479+89T>G (n.479+89T>G) | |
| 1 | g.229432318A>G | CA345148227 | ACTA1 | c.568T>C (p.Tyr190His) c.433T>C (p.Tyr145His) c.479+89T>C (n.479+89T>C) | dbSNP |
| 1 | g.229432318A>T | CA345148231 | ACTA1 | c.568T>A (p.Tyr190Asn) c.433T>A (p.Tyr145Asn) c.479+89T>A (n.479+89T>A) | |
| 1 | g.229432319G>A | CA423755409 | ACTA1 | c.567C>T (p.Asp189=) c.432C>T (p.Asp144=) c.479+88C>T (n.479+88C>T) | dbSNP |
| 1 | g.229432319G>C | CA345148239 | ACTA1 | c.567C>G (p.Asp189Glu) c.432C>G (p.Asp144Glu) c.479+88C>G (n.479+88C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432319G= | CA1226125739 | ACTA1 | c.567C= (p.Asp189=) c.432C= (p.Asp144=) c.479+88C= (n.479+88C=) | |
| 1 | g.229432319G>T | CA345148243 | ACTA1 | c.567C>A (p.Asp189Glu) c.432C>A (p.Asp144Glu) c.479+88C>A (n.479+88C>A) | |
| 1 | g.229432320T>A | CA345148245 | ACTA1 | c.566A>T (p.Asp189Val) c.431A>T (p.Asp144Val) c.479+87A>T (n.479+87A>T) | |
| 1 | g.229432320T>C | CA345148250 | ACTA1 | c.566A>G (p.Asp189Gly) c.431A>G (p.Asp144Gly) c.479+87A>G (n.479+87A>G) | gnomAD v4 |
| 1 | g.229432320T>G | CA345148248 | ACTA1 | c.566A>C (p.Asp189Ala) c.431A>C (p.Asp144Ala) c.479+87A>C (n.479+87A>C) | |
| 1 | g.229432321C>A | CA345148255 | ACTA1 | c.565G>T (p.Asp189Tyr) c.430G>T (p.Asp144Tyr) c.479+86G>T (n.479+86G>T) | |
| 1 | g.229432321C>G | CA345148256 | ACTA1 | c.565G>C (p.Asp189His) c.430G>C (p.Asp144His) c.479+86G>C (n.479+86G>C) | |
| 1 | g.229432321C>T | CA345148257 | ACTA1 | c.565G>A (p.Asp189Asn) c.430G>A (p.Asp144Asn) c.479+86G>A (n.479+86G>A) | |
| 1 | g.229432322G>A | CA423754948 | ACTA1 | c.564C>T (p.Thr188=) c.429C>T (p.Thr143=) c.479+85C>T (n.479+85C>T) | dbSNP |
| 1 | g.229432322G>C | CA423754949 | ACTA1 | c.564C>G (p.Thr188=) c.429C>G (p.Thr143=) c.479+85C>G (n.479+85C>G) | |
| 1 | g.229432322G= | CA1226125740 | ACTA1 | c.564C= (p.Thr188=) c.429C= (p.Thr143=) c.479+85C= (n.479+85C=) | |
| 1 | g.229432322G>T | CA423754951 | ACTA1 | c.564C>A (p.Thr188=) c.429C>A (p.Thr143=) c.479+85C>A (n.479+85C>A) | gnomAD v4 COSMIC |
| 1 | g.229432323G>A | CA345148258 | ACTA1 | c.563C>T (p.Thr188Ile) c.428C>T (p.Thr143Ile) c.479+84C>T (n.479+84C>T) | |
| 1 | g.229432323G>C | CA345148259 | ACTA1 | c.563C>G (p.Thr188Ser) c.428C>G (p.Thr143Ser) c.479+84C>G (n.479+84C>G) | |
| 1 | g.229432323G>T | CA345148260 | ACTA1 | c.563C>A (p.Thr188Asn) c.428C>A (p.Thr143Asn) c.479+84C>A (n.479+84C>A) | |
| 1 | g.229432324T>A | CA345148261 | ACTA1 | c.562A>T (p.Thr188Ser) c.427A>T (p.Thr143Ser) c.479+83A>T (n.479+83A>T) | |
| 1 | g.229432324T>C | CA345148262 | ACTA1 | c.562A>G (p.Thr188Ala) c.427A>G (p.Thr143Ala) c.479+83A>G (n.479+83A>G) | gnomAD v4 |
| 1 | g.229432324T>G | CA345148263 | ACTA1 | c.562A>C (p.Thr188Pro) c.427A>C (p.Thr143Pro) c.479+83A>C (n.479+83A>C) | |
| 1 | g.229432325G>A | CA423754955 | ACTA1 | c.561C>T (p.Leu187=) c.426C>T (p.Leu142=) c.479+82C>T (n.479+82C>T) | dbSNP |
| 1 | g.229432325G>C | CA423754957 | ACTA1 | c.561C>G (p.Leu187=) c.426C>G (p.Leu142=) c.479+82C>G (n.479+82C>G) | |
| 1 | g.229432325G= | CA1226125741 | ACTA1 | c.561C= (p.Leu187=) c.426C= (p.Leu142=) c.479+82C= (n.479+82C=) | |
| 1 | g.229432325G>T | CA423754960 | ACTA1 | c.561C>A (p.Leu187=) c.426C>A (p.Leu142=) c.479+82C>A (n.479+82C>A) | dbSNP |
| 1 | g.229432326A>C | CA345148265 | ACTA1 | c.560T>G (p.Leu187Arg) c.425T>G (p.Leu142Arg) c.479+81T>G (n.479+81T>G) | |
| 1 | g.229432326A>G | CA345148266 | ACTA1 | c.560T>C (p.Leu187Pro) c.425T>C (p.Leu142Pro) c.479+81T>C (n.479+81T>C) | |
| 1 | g.229432326A>T | CA345148264 | ACTA1 | c.560T>A (p.Leu187His) c.425T>A (p.Leu142His) c.479+81T>A (n.479+81T>A) | |
| 1 | g.229432327G>A | CA345148267 | ACTA1 | c.559C>T (p.Leu187Phe) c.424C>T (p.Leu142Phe) c.479+80C>T (n.479+80C>T) | |
| 1 | g.229432327G>C | CA345148268 | ACTA1 | c.559C>G (p.Leu187Val) c.424C>G (p.Leu142Val) c.479+80C>G (n.479+80C>G) | |
| 1 | g.229432327G>T | CA345148269 | ACTA1 | c.559C>A (p.Leu187Ile) c.424C>A (p.Leu142Ile) c.479+80C>A (n.479+80C>A) | |
| 1 | g.229432327_229432328delinsGA | CA1226125742 | ACTA1 | c.558_559delinsTC (p.Asp186=) c.423_424delinsTC (p.Asp141=) c.479+79_479+80delinsTC (n.479+79_479+80delinsTC) | |
| 1 | g.229432328del | CA1226125743 | ACTA1 | c.558del (p.Leu187SerfsTer5) c.423del (p.Leu142SerfsTer5) c.479+79del (n.479+79del) | dbSNP gnomAD v4 |
| 1 | g.229432328A= | CA1226125744 | ACTA1 | c.558T= (p.Asp186=) c.423T= (p.Asp141=) c.479+79T= (n.479+79T=) | |
| 1 | g.229432328A>C | CA345148270 | ACTA1 | c.558T>G (p.Asp186Glu) c.423T>G (p.Asp141Glu) c.479+79T>G (n.479+79T>G) | |
| 1 | g.229432328A>G | CA423754965 | ACTA1 | c.558T>C (p.Asp186=) c.423T>C (p.Asp141=) c.479+79T>C (n.479+79T>C) | dbSNP gnomAD v4 |
| 1 | g.229432328A>T | CA345148271 | ACTA1 | c.558T>A (p.Asp186Glu) c.423T>A (p.Asp141Glu) c.479+79T>A (n.479+79T>A) | |
| 1 | g.229432329T>A | CA345148272 | ACTA1 | c.557A>T (p.Asp186Val) c.422A>T (p.Asp141Val) c.479+78A>T (n.479+78A>T) | |
| 1 | g.229432329T>C | CA345148273 | ACTA1 | c.557A>G (p.Asp186Gly) c.422A>G (p.Asp141Gly) c.479+78A>G (n.479+78A>G) | ClinVar dbSNP |
| 1 | g.229432329T>G | CA345148274 | ACTA1 | c.557A>C (p.Asp186Ala) c.422A>C (p.Asp141Ala) c.479+78A>C (n.479+78A>C) | |
| 1 | g.229432329T= | CA1226125745 | ACTA1 | c.557A= (p.Asp186=) c.422A= (p.Asp141=) c.479+78A= (n.479+78A=) | |
| 1 | g.229432330C>A | CA345148275 | ACTA1 | c.556G>T (p.Asp186Tyr) c.421G>T (p.Asp141Tyr) c.479+77G>T (n.479+77G>T) | |
| 1 | g.229432330C>G | CA345148276 | ACTA1 | c.556G>C (p.Asp186His) c.421G>C (p.Asp141His) c.479+77G>C (n.479+77G>C) | ClinVar |
| 1 | g.229432330C>T | CA345148277 | ACTA1 | c.556G>A (p.Asp186Asn) c.421G>A (p.Asp141Asn) c.479+77G>A (n.479+77G>A) | ClinVar dbSNP |
| 1 | g.229432331G>A | CA1442841 | ACTA1 | c.555C>T (p.Arg185=) c.420C>T (p.Arg140=) c.479+76C>T (n.479+76C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432331G>C | CA423754973 | ACTA1 | c.555C>G (p.Arg185=) c.420C>G (p.Arg140=) c.479+76C>G (n.479+76C>G) | |
| 1 | g.229432331G= | CA1226125746 | ACTA1 | c.555C= (p.Arg185=) c.420C= (p.Arg140=) c.479+76C= (n.479+76C=) | |
| 1 | g.229432331G>T | CA423754974 | ACTA1 | c.555C>A (p.Arg185=) c.420C>A (p.Arg140=) c.479+76C>A (n.479+76C>A) | ClinVar dbSNP |
| 1 | g.229432332C>A | CA345148279 | ACTA1 | c.554G>T (p.Arg185Leu) c.419G>T (p.Arg140Leu) c.479+75G>T (n.479+75G>T) | |
| 1 | g.229432332C>G | CA345148280 | ACTA1 | c.554G>C (p.Arg185Pro) c.419G>C (p.Arg140Pro) c.479+75G>C (n.479+75G>C) | |
| 1 | g.229432332C>T | CA345148278 | ACTA1 | c.554G>A (p.Arg185His) c.419G>A (p.Arg140His) c.479+75G>A (n.479+75G>A) | |
| 1 | g.229432333G>A | CA345148281 | ACTA1 | c.553C>T (p.Arg185Cys) c.418C>T (p.Arg140Cys) c.479+74C>T (n.479+74C>T) | ClinVar dbSNP |
| 1 | g.229432333G>C | CA345148282 | ACTA1 | c.553C>G (p.Arg185Gly) c.418C>G (p.Arg140Gly) c.479+74C>G (n.479+74C>G) | |
| 1 | g.229432333G= | CA1226125747 | ACTA1 | c.553C= (p.Arg185=) c.418C= (p.Arg140=) c.479+74C= (n.479+74C=) | |
| 1 | g.229432333G>T | CA16617084 | ACTA1 | c.553C>A (p.Arg185Ser) c.418C>A (p.Arg140Ser) c.479+74C>A (n.479+74C>A) | ClinVar dbSNP |
| 1 | g.229432334G>A | CA423754979 | ACTA1 | c.552C>T (p.Gly184=) c.417C>T (p.Gly139=) c.479+73C>T (n.479+73C>T) | dbSNP |
| 1 | g.229432334G>C | CA423754980 | ACTA1 | c.552C>G (p.Gly184=) c.417C>G (p.Gly139=) c.479+73C>G (n.479+73C>G) | |
| 1 | g.229432334G= | CA1226125748 | ACTA1 | c.552C= (p.Gly184=) c.417C= (p.Gly139=) c.479+73C= (n.479+73C=) | |
| 1 | g.229432334G>T | CA423754982 | ACTA1 | c.552C>A (p.Gly184=) c.417C>A (p.Gly139=) c.479+73C>A (n.479+73C>A) | |
| 1 | g.229432335C>A | CA345148287 | ACTA1 | c.551G>T (p.Gly184Val) c.416G>T (p.Gly139Val) c.479+72G>T (n.479+72G>T) | |
| 1 | g.229432335C>G | CA345148298 | ACTA1 | c.551G>C (p.Gly184Ala) c.416G>C (p.Gly139Ala) c.479+72G>C (n.479+72G>C) | |
| 1 | g.229432335C>T | CA345148301 | ACTA1 | c.551G>A (p.Gly184Asp) c.416G>A (p.Gly139Asp) c.479+72G>A (n.479+72G>A) | ClinVar |
| 1 | g.229432336C>A | CA345148304 | ACTA1 | c.550G>T (p.Gly184Cys) c.415G>T (p.Gly139Cys) c.479+71G>T (n.479+71G>T) | |
| 1 | g.229432336C>G | CA345148307 | ACTA1 | c.550G>C (p.Gly184Arg) c.415G>C (p.Gly139Arg) c.479+71G>C (n.479+71G>C) | |
| 1 | g.229432336C>T | CA345148306 | ACTA1 | c.550G>A (p.Gly184Ser) c.415G>A (p.Gly139Ser) c.479+71G>A (n.479+71G>A) | COSMIC |
| 1 | g.229432337C>A | CA423754986 | ACTA1 | c.549G>T (p.Ala183=) c.414G>T (p.Ala138=) c.479+70G>T (n.479+70G>T) | dbSNP |
| 1 | g.229432337C= | CA1143395655 | ACTA1 | c.549G= (p.Ala183=) c.414G= (p.Ala138=) c.479+70G= (n.479+70G=) | |
| 1 | g.229432337C>G | CA423754987 | ACTA1 | c.549G>C (p.Ala183=) c.414G>C (p.Ala138=) c.479+70G>C (n.479+70G>C) | dbSNP |
| 1 | g.229432337C>T | CA1442842 | ACTA1 | c.549G>A (p.Ala183=) c.414G>A (p.Ala138=) c.479+70G>A (n.479+70G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432338G>A | CA345148308 | ACTA1 | c.548C>T (p.Ala183Val) c.413C>T (p.Ala138Val) c.479+69C>T (n.479+69C>T) | |
| 1 | g.229432338G>C | CA345148309 | ACTA1 | c.548C>G (p.Ala183Gly) c.413C>G (p.Ala138Gly) c.479+69C>G (n.479+69C>G) | |
| 1 | g.229432338G>T | CA345148310 | ACTA1 | c.548C>A (p.Ala183Glu) c.413C>A (p.Ala138Glu) c.479+69C>A (n.479+69C>A) | gnomAD v4 |
| 1 | g.229432339C>A | CA345148311 | ACTA1 | c.547G>T (p.Ala183Ser) c.412G>T (p.Ala138Ser) c.479+68G>T (n.479+68G>T) | |
| 1 | g.229432339C>G | CA345148313 | ACTA1 | c.547G>C (p.Ala183Pro) c.412G>C (p.Ala138Pro) c.479+68G>C (n.479+68G>C) | |
| 1 | g.229432339C>T | CA345148312 | ACTA1 | c.547G>A (p.Ala183Thr) c.412G>A (p.Ala138Thr) c.479+68G>A (n.479+68G>A) | |
| 1 | g.229432340C>A | CA423754990 | ACTA1 | c.546G>T (p.Leu182=) c.411G>T (p.Leu137=) c.479+67G>T (n.479+67G>T) | dbSNP |
| 1 | g.229432340C= | CA1143679791 | ACTA1 | c.546G= (p.Leu182=) c.411G= (p.Leu137=) c.479+67G= (n.479+67G=) | |
| 1 | g.229432340C>G | CA423754991 | ACTA1 | c.546G>C (p.Leu182=) c.411G>C (p.Leu137=) c.479+67G>C (n.479+67G>C) | |
| 1 | g.229432340C>T | CA1442843 | ACTA1 | c.546G>A (p.Leu182=) c.411G>A (p.Leu137=) c.479+67G>A (n.479+67G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432341A>C | CA345148316 | ACTA1 | c.545T>G (p.Leu182Arg) c.410T>G (p.Leu137Arg) c.479+66T>G (n.479+66T>G) | |
| 1 | g.229432341A>G | CA345148314 | ACTA1 | c.545T>C (p.Leu182Pro) c.410T>C (p.Leu137Pro) c.479+66T>C (n.479+66T>C) | |
| 1 | g.229432341A>T | CA345148315 | ACTA1 | c.545T>A (p.Leu182Gln) c.410T>A (p.Leu137Gln) c.479+66T>A (n.479+66T>A) | |
| 1 | g.229432342G>A | CA423754995 | ACTA1 | c.544C>T (p.Leu182=) c.409C>T (p.Leu137=) c.479+65C>T (n.479+65C>T) | |
| 1 | g.229432342G>C | CA1442844 | ACTA1 | c.544C>G (p.Leu182Val) c.409C>G (p.Leu137Val) c.479+65C>G (n.479+65C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432342G= | CA1226125749 | ACTA1 | c.544C= (p.Leu182=) c.409C= (p.Leu137=) c.479+65C= (n.479+65C=) | |
| 1 | g.229432342G>T | CA345148317 | ACTA1 | c.544C>A (p.Leu182Met) c.409C>A (p.Leu137Met) c.479+65C>A (n.479+65C>A) | |
| 1 | g.229432343G>A | CA423754998 | ACTA1 | c.543C>T (p.Asp181=) c.408C>T (p.Asp136=) c.479+64C>T (n.479+64C>T) | COSMIC |
| 1 | g.229432343G>C | CA345148318 | ACTA1 | c.543C>G (p.Asp181Glu) c.408C>G (p.Asp136Glu) c.479+64C>G (n.479+64C>G) | |
| 1 | g.229432343G>T | CA345148319 | ACTA1 | c.543C>A (p.Asp181Glu) c.408C>A (p.Asp136Glu) c.479+64C>A (n.479+64C>A) | COSMIC |
| 1 | g.229432344T>A | CA345148320 | ACTA1 | c.542A>T (p.Asp181Val) c.407A>T (p.Asp136Val) c.479+63A>T (n.479+63A>T) | |
| 1 | g.229432344T>C | CA345148321 | ACTA1 | c.542A>G (p.Asp181Gly) c.407A>G (p.Asp136Gly) c.479+63A>G (n.479+63A>G) | |
| 1 | g.229432344T>G | CA345148322 | ACTA1 | c.542A>C (p.Asp181Ala) c.407A>C (p.Asp136Ala) c.479+63A>C (n.479+63A>C) | |
| 1 | g.229432344_229432345delinsTC | CA1226125750 | ACTA1 | c.541_542delinsGA (p.Asp181=) c.406_407delinsGA (p.Asp136=) c.479+62_479+63delinsGA (n.479+62_479+63delinsGA) | |
| 1 | g.229432345C>A | CA345148323 | ACTA1 | c.541G>T (p.Asp181Tyr) c.406G>T (p.Asp136Tyr) c.479+62G>T (n.479+62G>T) | |
| 1 | g.229432345C>G | CA345148324 | ACTA1 | c.541G>C (p.Asp181His) c.406G>C (p.Asp136His) c.479+62G>C (n.479+62G>C) | ClinVar |
| 1 | g.229432345C>T | CA345148325 | ACTA1 | c.541G>A (p.Asp181Asn) c.406G>A (p.Asp136Asn) c.479+62G>A (n.479+62G>A) | COSMIC |
| 1 | g.229432346del | CA1442845 | ACTA1 | c.541del (p.Asp181ThrfsTer11) c.406del (p.Asp136ThrfsTer11) c.479+62del (n.479+62del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.229432346C>A | CA423755009 | ACTA1 | c.540G>T (p.Leu180=) c.405G>T (p.Leu135=) c.479+61G>T (n.479+61G>T) | |
| 1 | g.229432346C>G | CA423755007 | ACTA1 | c.540G>C (p.Leu180=) c.405G>C (p.Leu135=) c.479+61G>C (n.479+61G>C) | |
| 1 | g.229432346C>T | CA423755005 | ACTA1 | c.540G>A (p.Leu180=) c.405G>A (p.Leu135=) c.479+61G>A (n.479+61G>A) | dbSNP |
| 1 | g.229432347A= | CA1226125751 | ACTA1 | c.539T= (p.Leu180=) c.404T= (p.Leu135=) c.479+60T= (n.479+60T=) | |
| 1 | g.229432347A>C | CA345148328 | ACTA1 | c.539T>G (p.Leu180Arg) c.404T>G (p.Leu135Arg) c.479+60T>G (n.479+60T>G) | gnomAD v4 |
| 1 | g.229432347A>G | CA345148327 | ACTA1 | c.539T>C (p.Leu180Pro) c.404T>C (p.Leu135Pro) c.479+60T>C (n.479+60T>C) | ClinVar dbSNP |
| 1 | g.229432347A>T | CA345148326 | ACTA1 | c.539T>A (p.Leu180Gln) c.404T>A (p.Leu135Gln) c.479+60T>A (n.479+60T>A) | |
| 1 | g.229432348G>A | CA423755013 | ACTA1 | c.538C>T (p.Leu180=) c.403C>T (p.Leu135=) c.479+59C>T (n.479+59C>T) | ClinVar dbSNP |
| 1 | g.229432348G>C | CA345148329 | ACTA1 | c.538C>G (p.Leu180Val) c.403C>G (p.Leu135Val) c.479+59C>G (n.479+59C>G) | |
| 1 | g.229432348G>T | CA345148330 | ACTA1 | c.538C>A (p.Leu180Met) c.403C>A (p.Leu135Met) c.479+59C>A (n.479+59C>A) | |
| 1 | g.229432349G>A | CA423755017 | ACTA1 | c.537C>T (p.Arg179=) c.402C>T (p.Arg134=) c.479+58C>T (n.479+58C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.229432349G>C | CA423755018 | ACTA1 | c.537C>G (p.Arg179=) c.402C>G (p.Arg134=) c.479+58C>G (n.479+58C>G) | |
| 1 | g.229432349G= | CA1226125752 | ACTA1 | c.537C= (p.Arg179=) c.402C= (p.Arg134=) c.479+58C= (n.479+58C=) | |
| 1 | g.229432349G>T | CA423755019 | ACTA1 | c.537C>A (p.Arg179=) c.402C>A (p.Arg134=) c.479+58C>A (n.479+58C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432350C>A | CA233440 | ACTA1 | c.536G>T (p.Arg179Leu) c.401G>T (p.Arg134Leu) c.479+57G>T (n.479+57G>T) | ClinVar dbSNP |
| 1 | g.229432350C= | CA1148225032 | ACTA1 | c.536G= (p.Arg179=) c.401G= (p.Arg134=) c.479+57G= (n.479+57G=) | |
| 1 | g.229432350C>G | CA345148331 | ACTA1 | c.536G>C (p.Arg179Pro) c.401G>C (p.Arg134Pro) c.479+57G>C (n.479+57G>C) | |
| 1 | g.229432350C>T | CA345148332 | ACTA1 | c.536G>A (p.Arg179His) c.401G>A (p.Arg134His) c.479+57G>A (n.479+57G>A) | ClinVar |
| 1 | g.229432351G>A | CA345148337 | ACTA1 | c.535C>T (p.Arg179Cys) c.400C>T (p.Arg134Cys) c.479+56C>T (n.479+56C>T) | |
| 1 | g.229432351G>C | CA345148341 | ACTA1 | c.535C>G (p.Arg179Gly) c.400C>G (p.Arg134Gly) c.479+56C>G (n.479+56C>G) | |
| 1 | g.229432351G>T | CA345148343 | ACTA1 | c.535C>A (p.Arg179Ser) c.400C>A (p.Arg134Ser) c.479+56C>A (n.479+56C>A) | |
| 1 | g.229432352C>A | CA345148345 | ACTA1 | c.534G>T (p.Met178Ile) c.399G>T (p.Met133Ile) c.479+55G>T (n.479+55G>T) | gnomAD v4 |
| 1 | g.229432352C>G | CA345148349 | ACTA1 | c.534G>C (p.Met178Ile) c.399G>C (p.Met133Ile) c.479+55G>C (n.479+55G>C) | |
| 1 | g.229432352C>T | CA345148350 | ACTA1 | c.534G>A (p.Met178Ile) c.399G>A (p.Met133Ile) c.479+55G>A (n.479+55G>A) | |
| 1 | g.229432352_229432357del | CA2650926674 | ACTA1 | c.529_534del (p.Ile177_Met178del) c.394_399del (p.Ile132_Met133del) c.479+50_479+55del (n.479+50_479+55del) | gnomAD v4 |
| 1 | g.229432353A>C | CA345148354 | ACTA1 | c.533T>G (p.Met178Arg) c.398T>G (p.Met133Arg) c.479+54T>G (n.479+54T>G) | |
| 1 | g.229432353A>G | CA345148356 | ACTA1 | c.533T>C (p.Met178Thr) c.398T>C (p.Met133Thr) c.479+54T>C (n.479+54T>C) | |
| 1 | g.229432353A>T | CA345148363 | ACTA1 | c.533T>A (p.Met178Lys) c.398T>A (p.Met133Lys) c.479+54T>A (n.479+54T>A) | |
| 1 | g.229432354T>A | CA345148407 | ACTA1 | c.532A>T (p.Met178Leu) c.397A>T (p.Met133Leu) c.479+53A>T (n.479+53A>T) | |
| 1 | g.229432354T>C | CA345148404 | ACTA1 | c.532A>G (p.Met178Val) c.397A>G (p.Met133Val) c.479+53A>G (n.479+53A>G) | |
| 1 | g.229432354T>G | CA345148400 | ACTA1 | c.532A>C (p.Met178Leu) c.397A>C (p.Met133Leu) c.479+53A>C (n.479+53A>C) | ClinVar |
| 1 | g.229432355G>A | CA423755028 | ACTA1 | c.531C>T (p.Ile177=) c.396C>T (p.Ile132=) c.479+52C>T (n.479+52C>T) | |
| 1 | g.229432355G>C | CA345148409 | ACTA1 | c.531C>G (p.Ile177Met) c.396C>G (p.Ile132Met) c.479+52C>G (n.479+52C>G) | |
| 1 | g.229432355G>T | CA423755029 | ACTA1 | c.531C>A (p.Ile177=) c.396C>A (p.Ile132=) c.479+52C>A (n.479+52C>A) | |
| 1 | g.229432356A>C | CA345148411 | ACTA1 | c.530T>G (p.Ile177Ser) c.395T>G (p.Ile132Ser) c.479+51T>G (n.479+51T>G) | |
| 1 | g.229432356A>G | CA345148413 | ACTA1 | c.530T>C (p.Ile177Thr) c.395T>C (p.Ile132Thr) c.479+51T>C (n.479+51T>C) | gnomAD v4 |
| 1 | g.229432356A>T | CA345148415 | ACTA1 | c.530T>A (p.Ile177Asn) c.395T>A (p.Ile132Asn) c.479+51T>A (n.479+51T>A) | |
| 1 | g.229432357T>A | CA345148417 | ACTA1 | c.529A>T (p.Ile177Phe) c.394A>T (p.Ile132Phe) c.479+50A>T (n.479+50A>T) | |
| 1 | g.229432357T>C | CA345148419 | ACTA1 | c.529A>G (p.Ile177Val) c.394A>G (p.Ile132Val) c.479+50A>G (n.479+50A>G) | ClinVar dbSNP |
| 1 | g.229432357T>G | CA345148420 | ACTA1 | c.529A>C (p.Ile177Leu) c.394A>C (p.Ile132Leu) c.479+50A>C (n.479+50A>C) | |
| 1 | g.229432357T= | CA1226125753 | ACTA1 | c.529A= (p.Ile177=) c.394A= (p.Ile132=) c.479+50A= (n.479+50A=) | |
| 1 | g.229432358G>A | CA423755035 | ACTA1 | c.528C>T (p.Ala176=) c.393C>T (p.Ala131=) c.479+49C>T (n.479+49C>T) | dbSNP gnomAD v2 |
| 1 | g.229432358G>C | CA423755034 | ACTA1 | c.528C>G (p.Ala176=) c.393C>G (p.Ala131=) c.479+49C>G (n.479+49C>G) | |
| 1 | g.229432358G= | CA1226125754 | ACTA1 | c.528C= (p.Ala176=) c.393C= (p.Ala131=) c.479+49C= (n.479+49C=) | |
| 1 | g.229432358G>T | CA423755032 | ACTA1 | c.528C>A (p.Ala176=) c.393C>A (p.Ala131=) c.479+49C>A (n.479+49C>A) | |
| 1 | g.229432361_229432391del | CA2573051509 | ACTA1 | c.498_528del (p.Ile167SerfsTer15) c.363_393del (p.Ile122SerfsTer15) c.479+19_479+49del (n.479+19_479+49del) | ClinVar dbSNP |
| 1 | g.229432359G>A | CA345148424 | ACTA1 | c.527C>T (p.Ala176Val) c.392C>T (p.Ala131Val) c.479+48C>T (n.479+48C>T) | |
| 1 | g.229432359G>C | CA345148432 | ACTA1 | c.527C>G (p.Ala176Gly) c.392C>G (p.Ala131Gly) c.479+48C>G (n.479+48C>G) | |
| 1 | g.229432359G= | CA1226125755 | ACTA1 | c.527C= (p.Ala176=) c.392C= (p.Ala131=) c.479+48C= (n.479+48C=) | |
| 1 | g.229432359G>T | CA345148435 | ACTA1 | c.527C>A (p.Ala176Asp) c.392C>A (p.Ala131Asp) c.479+48C>A (n.479+48C>A) | dbSNP |
| 1 | g.229432360C>A | CA345148438 | ACTA1 | c.526G>T (p.Ala176Ser) c.391G>T (p.Ala131Ser) c.479+47G>T (n.479+47G>T) | gnomAD v4 |
| 1 | g.229432360C>G | CA345148439 | ACTA1 | c.526G>C (p.Ala176Pro) c.391G>C (p.Ala131Pro) c.479+47G>C (n.479+47G>C) | |
| 1 | g.229432360C>T | CA345148440 | ACTA1 | c.526G>A (p.Ala176Thr) c.391G>A (p.Ala131Thr) c.479+47G>A (n.479+47G>A) | gnomAD v4 |
| 1 | g.229432361G>A | CA423755036 | ACTA1 | c.525C>T (p.His175=) c.390C>T (p.His130=) c.479+46C>T (n.479+46C>T) | dbSNP |
| 1 | g.229432361G>C | CA345148443 | ACTA1 | c.525C>G (p.His175Gln) c.390C>G (p.His130Gln) c.479+46C>G (n.479+46C>G) | |
| 1 | g.229432361G>T | CA345148441 | ACTA1 | c.525C>A (p.His175Gln) c.390C>A (p.His130Gln) c.479+46C>A (n.479+46C>A) | |
| 1 | g.229432362T>A | CA345148444 | ACTA1 | c.524A>T (p.His175Leu) c.389A>T (p.His130Leu) c.479+45A>T (n.479+45A>T) | |
| 1 | g.229432362T>C | CA345148450 | ACTA1 | c.524A>G (p.His175Arg) c.389A>G (p.His130Arg) c.479+45A>G (n.479+45A>G) | |
| 1 | g.229432362T>G | CA345148453 | ACTA1 | c.524A>C (p.His175Pro) c.389A>C (p.His130Pro) c.479+45A>C (n.479+45A>C) | |
| 1 | g.229432363G>A | CA345148456 | ACTA1 | c.523C>T (p.His175Tyr) c.388C>T (p.His130Tyr) c.479+44C>T (n.479+44C>T) | |
| 1 | g.229432363G>C | CA345148457 | ACTA1 | c.523C>G (p.His175Asp) c.388C>G (p.His130Asp) c.479+44C>G (n.479+44C>G) | |
| 1 | g.229432363G>T | CA345148458 | ACTA1 | c.523C>A (p.His175Asn) c.388C>A (p.His130Asn) c.479+44C>A (n.479+44C>A) | |
| 1 | g.229432364C>A | CA423755039 | ACTA1 | c.522G>T (p.Pro174=) c.387G>T (p.Pro129=) c.479+43G>T (n.479+43G>T) | dbSNP |
| 1 | g.229432364C= | CA1226125756 | ACTA1 | c.522G= (p.Pro174=) c.387G= (p.Pro129=) c.479+43G= (n.479+43G=) | |
| 1 | g.229432364C>G | CA423755040 | ACTA1 | c.522G>C (p.Pro174=) c.387G>C (p.Pro129=) c.479+43G>C (n.479+43G>C) | |
| 1 | g.229432364C>T | CA1442846 | ACTA1 | c.522G>A (p.Pro174=) c.387G>A (p.Pro129=) c.479+43G>A (n.479+43G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.229432365G>A | CA16043983 | ACTA1 | c.521C>T (p.Pro174Leu) c.386C>T (p.Pro129Leu) c.479+42C>T (n.479+42C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432365G>C | CA345148469 | ACTA1 | c.521C>G (p.Pro174Arg) c.386C>G (p.Pro129Arg) c.479+42C>G (n.479+42C>G) | ClinVar dbSNP |
| 1 | g.229432365G= | CA1226125757 | ACTA1 | c.521C= (p.Pro174=) c.386C= (p.Pro129=) c.479+42C= (n.479+42C=) | |
| 1 | g.229432365G>T | CA345148473 | ACTA1 | c.521C>A (p.Pro174Gln) c.386C>A (p.Pro129Gln) c.479+42C>A (n.479+42C>A) | |
| 1 | g.229432366G>A | CA345148474 | ACTA1 | c.520C>T (p.Pro174Ser) c.385C>T (p.Pro129Ser) c.479+41C>T (n.479+41C>T) | gnomAD v4 |
| 1 | g.229432366G>C | CA345148477 | ACTA1 | c.520C>G (p.Pro174Ala) c.385C>G (p.Pro129Ala) c.479+41C>G (n.479+41C>G) | |
| 1 | g.229432366G>T | CA345148479 | ACTA1 | c.520C>A (p.Pro174Thr) c.385C>A (p.Pro129Thr) c.479+41C>A (n.479+41C>A) | |
| 1 | g.229432367C>A | CA423755042 | ACTA1 | c.519G>T (p.Leu173=) c.384G>T (p.Leu128=) c.479+40G>T (n.479+40G>T) | |
| 1 | g.229432367C>G | CA423755044 | ACTA1 | c.519G>C (p.Leu173=) c.384G>C (p.Leu128=) c.479+40G>C (n.479+40G>C) | |
| 1 | g.229432367C>T | CA423755045 | ACTA1 | c.519G>A (p.Leu173=) c.384G>A (p.Leu128=) c.479+40G>A (n.479+40G>A) | |
| 1 | g.229432368A>C | CA345148482 | ACTA1 | c.518T>G (p.Leu173Arg) c.383T>G (p.Leu128Arg) c.479+39T>G (n.479+39T>G) | |
| 1 | g.229432368A>G | CA345148512 | ACTA1 | c.518T>C (p.Leu173Pro) c.383T>C (p.Leu128Pro) c.479+39T>C (n.479+39T>C) | |
| 1 | g.229432368A>T | CA345148492 | ACTA1 | c.518T>A (p.Leu173Gln) c.383T>A (p.Leu128Gln) c.479+39T>A (n.479+39T>A) | |
| 1 | g.229432369G>A | CA423755047 | ACTA1 | c.517C>T (p.Leu173=) c.382C>T (p.Leu128=) c.479+38C>T (n.479+38C>T) | |
| 1 | g.229432369G>C | CA345148517 | ACTA1 | c.517C>G (p.Leu173Val) c.382C>G (p.Leu128Val) c.479+38C>G (n.479+38C>G) | |
| 1 | g.229432369G>T | CA345148519 | ACTA1 | c.517C>A (p.Leu173Met) c.382C>A (p.Leu128Met) c.479+38C>A (n.479+38C>A) | ClinVar dbSNP |
| 1 | g.229432370C>A | CA423755048 | ACTA1 | c.516G>T (p.Ala172=) c.381G>T (p.Ala127=) c.479+37G>T (n.479+37G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.229432370C= | CA1226125758 | ACTA1 | c.516G= (p.Ala172=) c.381G= (p.Ala127=) c.479+37G= (n.479+37G=) | |
| 1 | g.229432370C>G | CA423755049 | ACTA1 | c.516G>C (p.Ala172=) c.381G>C (p.Ala127=) c.479+37G>C (n.479+37G>C) | ClinVar dbSNP |
| 1 | g.229432370C>T | CA423755050 | ACTA1 | c.516G>A (p.Ala172=) c.381G>A (p.Ala127=) c.479+37G>A (n.479+37G>A) | |
| 1 | g.229432371G>A | CA345148520 | ACTA1 | c.515C>T (p.Ala172Val) c.380C>T (p.Ala127Val) c.479+36C>T (n.479+36C>T) | ClinVar dbSNP gnomAD v4 |
| 1 | g.229432371G>C | CA345148521 | ACTA1 | c.515C>G (p.Ala172Gly) c.380C>G (p.Ala127Gly) c.479+36C>G (n.479+36C>G) | |
| 1 | g.229432371G= | CA1148225033 | ACTA1 | c.515C= (p.Ala172=) c.380C= (p.Ala127=) c.479+36C= (n.479+36C=) | |
| 1 | g.229432371G>T | CA151571 | ACTA1 | c.515C>A (p.Ala172Glu) c.380C>A (p.Ala127Glu) c.479+36C>A (n.479+36C>A) | ClinVar dbSNP |
| 1 | g.229432372C>A | CA345148522 | ACTA1 | c.514G>T (p.Ala172Ser) c.379G>T (p.Ala127Ser) c.479+35G>T (n.479+35G>T) | |
| 1 | g.229432372C>G | CA345148524 | ACTA1 | c.514G>C (p.Ala172Pro) c.379G>C (p.Ala127Pro) c.479+35G>C (n.479+35G>C) | |
| 1 | g.229432372C>T | CA345148528 | ACTA1 | c.514G>A (p.Ala172Thr) c.379G>A (p.Ala127Thr) c.479+35G>A (n.479+35G>A) | |
| 1 | g.229432373G>A | CA423755054 | ACTA1 | c.513C>T (p.Tyr171=) c.378C>T (p.Tyr126=) c.479+34C>T (n.479+34C>T) | dbSNP |
| 1 | g.229432373G>C | CA345148536 | ACTA1 | c.513C>G (p.Tyr171Ter) c.378C>G (p.Tyr126Ter) c.479+34C>G (n.479+34C>G) | |
| 1 | g.229432373G= | CA1226125759 | ACTA1 | c.513C= (p.Tyr171=) c.378C= (p.Tyr126=) c.479+34C= (n.479+34C=) | |
| 1 | g.229432373G>T | CA345148538 | ACTA1 | c.513C>A (p.Tyr171Ter) c.378C>A (p.Tyr126Ter) c.479+34C>A (n.479+34C>A) | |
| 1 | g.229432374T>A | CA345148541 | ACTA1 | c.512A>T (p.Tyr171Phe) c.377A>T (p.Tyr126Phe) c.479+33A>T (n.479+33A>T) | |
| 1 | g.229432374T>C | CA345148543 | ACTA1 | c.512A>G (p.Tyr171Cys) c.377A>G (p.Tyr126Cys) c.479+33A>G (n.479+33A>G) | |
| 1 | g.229432374T>G | CA345148545 | ACTA1 | c.512A>C (p.Tyr171Ser) c.377A>C (p.Tyr126Ser) c.479+33A>C (n.479+33A>C) | |
| 1 | g.229432375A= | CA1226125760 | ACTA1 | c.511T= (p.Tyr171=) c.376T= (p.Tyr126=) c.479+32T= (n.479+32T=) | |
| 1 | g.229432375A>C | CA345148556 | ACTA1 | c.511T>G (p.Tyr171Asp) c.376T>G (p.Tyr126Asp) c.479+32T>G (n.479+32T>G) | |
| 1 | g.229432375A>G | CA345148549 | ACTA1 | c.511T>C (p.Tyr171His) c.376T>C (p.Tyr126His) c.479+32T>C (n.479+32T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.229432375A>T | CA345148552 | ACTA1 | c.511T>A (p.Tyr171Asn) c.376T>A (p.Tyr126Asn) c.479+32T>A (n.479+32T>A) | |
| 1 | g.229432376G>A | CA423755058 | ACTA1 | c.510C>T (p.Gly170=) c.375C>T (p.Gly125=) c.479+31C>T (n.479+31C>T) | dbSNP gnomAD v4 |
| 1 | g.229432376G>C | CA423755059 | ACTA1 | c.510C>G (p.Gly170=) c.375C>G (p.Gly125=) c.479+31C>G (n.479+31C>G) | gnomAD v4 |
| 1 | g.229432376G= | CA1226125761 | ACTA1 | c.510C= (p.Gly170=) c.375C= (p.Gly125=) c.479+31C= (n.479+31C=) | |
| 1 | g.229432376G>T | CA423755060 | ACTA1 | c.510C>A (p.Gly170=) c.375C>A (p.Gly125=) c.479+31C>A (n.479+31C>A) | |
| 1 | g.229432377C>A | CA345148557 | ACTA1 | c.509G>T (p.Gly170Val) c.374G>T (p.Gly125Val) c.479+30G>T (n.479+30G>T) | |
| 1 | g.229432377C>G | CA345148558 | ACTA1 | c.509G>C (p.Gly170Ala) c.374G>C (p.Gly125Ala) c.479+30G>C (n.479+30G>C) | |
| 1 | g.229432377C>T | CA345148559 | ACTA1 | c.509G>A (p.Gly170Asp) c.374G>A (p.Gly125Asp) c.479+30G>A (n.479+30G>A) | ClinVar dbSNP |
| 1 | g.229432378C>A | CA345148562 | ACTA1 | c.508G>T (p.Gly170Cys) c.373G>T (p.Gly125Cys) c.479+29G>T (n.479+29G>T) | |
| 1 | g.229432378C>G | CA345148563 | ACTA1 | c.508G>C (p.Gly170Arg) c.373G>C (p.Gly125Arg) c.479+29G>C (n.479+29G>C) | |
| 1 | g.229432378C>T | CA345148565 | ACTA1 | c.508G>A (p.Gly170Ser) c.373G>A (p.Gly125Ser) c.479+29G>A (n.479+29G>A) | |
| 1 | g.229432379C>A | CA345148568 | ACTA1 | c.507G>T (p.Glu169Asp) c.372G>T (p.Glu124Asp) c.479+28G>T (n.479+28G>T) | |
| 1 | g.229432379C>G | CA345148572 | ACTA1 | c.507G>C (p.Glu169Asp) c.372G>C (p.Glu124Asp) c.479+28G>C (n.479+28G>C) | |
| 1 | g.229432379C>T | CA423755065 | ACTA1 | c.507G>A (p.Glu169=) c.372G>A (p.Glu124=) c.479+28G>A (n.479+28G>A) | dbSNP |
| 1 | g.229432380T>A | CA345148575 | ACTA1 | c.506A>T (p.Glu169Val) c.371A>T (p.Glu124Val) c.479+27A>T (n.479+27A>T) | |
| 1 | g.229432380T>C | CA345148579 | ACTA1 | c.506A>G (p.Glu169Gly) c.371A>G (p.Glu124Gly) c.479+27A>G (n.479+27A>G) | ClinVar |
| 1 | g.229432380T>G | CA345148580 | ACTA1 | c.506A>C (p.Glu169Ala) c.371A>C (p.Glu124Ala) c.479+27A>C (n.479+27A>C) | |
| 1 | g.229432380_229432390del | CA2650926675 | ACTA1 | c.496_506del (p.Pro166GlyfsTer28) c.361_371del (p.Pro121GlyfsTer28) c.479+17_479+27del (n.479+17_479+27del) | gnomAD v4 |
| 1 | g.229432381C>A | CA345148596 | ACTA1 | c.505G>T (p.Glu169Ter) c.370G>T (p.Glu124Ter) c.479+26G>T (n.479+26G>T) | |
| 1 | g.229432381C>G | CA345148599 | ACTA1 | c.505G>C (p.Glu169Gln) c.370G>C (p.Glu124Gln) c.479+26G>C (n.479+26G>C) | |
| 1 | g.229432381C>T | CA345148584 | ACTA1 | c.505G>A (p.Glu169Lys) c.370G>A (p.Glu124Lys) c.479+26G>A (n.479+26G>A) | |
| 1 | g.229432382A>C | CA345148602 | ACTA1 | c.504T>G (p.Tyr168Ter) c.369T>G (p.Tyr123Ter) c.479+25T>G (n.479+25T>G) | |
| 1 | g.229432382A>G | CA423755070 | ACTA1 | c.504T>C (p.Tyr168=) c.369T>C (p.Tyr123=) c.479+25T>C (n.479+25T>C) | gnomAD v4 |
| 1 | g.229432382A>T | CA345148604 | ACTA1 | c.504T>A (p.Tyr168Ter) c.369T>A (p.Tyr123Ter) c.479+25T>A (n.479+25T>A) | |
| 1 | g.229432383T>A | CA345148608 | ACTA1 | c.503A>T (p.Tyr168Phe) c.368A>T (p.Tyr123Phe) c.479+24A>T (n.479+24A>T) | |
| 1 | g.229432383T>C | CA345148609 | ACTA1 | c.503A>G (p.Tyr168Cys) c.368A>G (p.Tyr123Cys) c.479+24A>G (n.479+24A>G) | |
| 1 | g.229432383T>G | CA345148610 | ACTA1 | c.503A>C (p.Tyr168Ser) c.368A>C (p.Tyr123Ser) c.479+24A>C (n.479+24A>C) | |
| 1 | g.229432384A>C | CA345148611 | ACTA1 | c.502T>G (p.Tyr168Asp) c.367T>G (p.Tyr123Asp) c.479+23T>G (n.479+23T>G) | |
| 1 | g.229432384A>G | CA345148613 | ACTA1 | c.502T>C (p.Tyr168His) c.367T>C (p.Tyr123His) c.479+23T>C (n.479+23T>C) | |
| 1 | g.229432384A>T | CA345148616 | ACTA1 | c.502T>A (p.Tyr168Asn) c.367T>A (p.Tyr123Asn) c.479+23T>A (n.479+23T>A) | |
| 1 | g.229432385A= | CA1226125762 | ACTA1 | c.501T= (p.Ile167=) c.366T= (p.Ile122=) c.479+22T= (n.479+22T=) | |
| 1 | g.229432385A>C | CA345148617 | ACTA1 | c.501T>G (p.Ile167Met) c.366T>G (p.Ile122Met) c.479+22T>G (n.479+22T>G) | |
| 1 | g.229432385A>G | CA423755075 | ACTA1 | c.501T>C (p.Ile167=) c.366T>C (p.Ile122=) c.479+22T>C (n.479+22T>C) | dbSNP |
| 1 | g.229432385A>T | CA423755077 | ACTA1 | c.501T>A (p.Ile167=) c.366T>A (p.Ile122=) c.479+22T>A (n.479+22T>A) |