Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.229432034G>ACA423754984ACTA1c.768C>T (p.Arg256=)
c.633C>T (p.Arg211=)
c.480-172C>T (n.480-172C>T)
 dbSNP gnomAD v3 gnomAD v4
1g.229432034G>CCA423754983ACTA1c.768C>G (p.Arg256=)
c.633C>G (p.Arg211=)
c.480-172C>G (n.480-172C>G)
1g.229432034G=CA1226125620ACTA1c.768C= (p.Arg256=)
c.633C= (p.Arg211=)
c.480-172C= (n.480-172C=)
1g.229432034G>TCA423754981ACTA1c.768C>A (p.Arg256=)
c.633C>A (p.Arg211=)
c.480-172C>A (n.480-172C>A)
1g.229432035C>ACA345146590ACTA1c.767G>T (p.Arg256Leu)
c.632G>T (p.Arg211Leu)
c.480-173G>T (n.480-173G>T)
1g.229432035C=CA1226125621ACTA1c.767G= (p.Arg256=)
c.632G= (p.Arg211=)
c.480-173G= (n.480-173G=)
1g.229432035C>GCA345146591ACTA1c.767G>C (p.Arg256Pro)
c.632G>C (p.Arg211Pro)
c.480-173G>C (n.480-173G>C)
1g.229432035C>TCA345146592ACTA1c.767G>A (p.Arg256His)
c.632G>A (p.Arg211His)
c.480-173G>A (n.480-173G>A)
 ClinVar dbSNP
1g.229432036G>ACA345146594ACTA1c.766C>T (p.Arg256Cys)
c.631C>T (p.Arg211Cys)
c.480-174C>T (n.480-174C>T)
 ClinVar dbSNP COSMIC
1g.229432036G>CCA345146596ACTA1c.766C>G (p.Arg256Gly)
c.631C>G (p.Arg211Gly)
c.480-174C>G (n.480-174C>G)
1g.229432036G=CA1226125622ACTA1c.766C= (p.Arg256=)
c.631C= (p.Arg211=)
c.480-174C= (n.480-174C=)
1g.229432036G>TCA345146598ACTA1c.766C>A (p.Arg256Ser)
c.631C>A (p.Arg211Ser)
c.480-174C>A (n.480-174C>A)
1g.229432037C>ACA345146601ACTA1c.765G>T (p.Glu255Asp)
c.630G>T (p.Glu210Asp)
c.480-175G>T (n.480-175G>T)
1g.229432037C>GCA345146603ACTA1c.765G>C (p.Glu255Asp)
c.630G>C (p.Glu210Asp)
c.480-175G>C (n.480-175G>C)
1g.229432037C>TCA423754985ACTA1c.765G>A (p.Glu255=)
c.630G>A (p.Glu210=)
c.480-175G>A (n.480-175G>A)
 gnomAD v4
1g.229432038T>ACA345146605ACTA1c.764A>T (p.Glu255Val)
c.629A>T (p.Glu210Val)
c.480-176A>T (n.480-176A>T)
1g.229432038T>CCA345146608ACTA1c.764A>G (p.Glu255Gly)
c.629A>G (p.Glu210Gly)
c.480-176A>G (n.480-176A>G)
1g.229432038T>GCA345146610ACTA1c.764A>C (p.Glu255Ala)
c.629A>C (p.Glu210Ala)
c.480-176A>C (n.480-176A>C)
1g.229432039C>ACA345146617ACTA1c.763G>T (p.Glu255Ter)
c.628G>T (p.Glu210Ter)
c.480-177G>T (n.480-177G>T)
 dbSNP
1g.229432039C=CA1226125623ACTA1c.763G= (p.Glu255=)
c.628G= (p.Glu210=)
c.480-177G= (n.480-177G=)
1g.229432039C>GCA345146616ACTA1c.763G>C (p.Glu255Gln)
c.628G>C (p.Glu210Gln)
c.480-177G>C (n.480-177G>C)
1g.229432039C>TCA345146614ACTA1c.763G>A (p.Glu255Lys)
c.628G>A (p.Glu210Lys)
c.480-177G>A (n.480-177G>A)
1g.229432040G>ACA423754989ACTA1c.762C>T (p.Asn254=)
c.627C>T (p.Asn209=)
c.480-178C>T (n.480-178C>T)
 dbSNP gnomAD v4 COSMIC
1g.229432040G>CCA345146620ACTA1c.762C>G (p.Asn254Lys)
c.627C>G (p.Asn209Lys)
c.480-178C>G (n.480-178C>G)
 ClinVar dbSNP
1g.229432040G=CA1226125624ACTA1c.762C= (p.Asn254=)
c.627C= (p.Asn209=)
c.480-178C= (n.480-178C=)
1g.229432040G>TCA345146622ACTA1c.762C>A (p.Asn254Lys)
c.627C>A (p.Asn209Lys)
c.480-178C>A (n.480-178C>A)
 COSMIC
1g.229432041T>ACA345146625ACTA1c.761A>T (p.Asn254Ile)
c.626A>T (p.Asn209Ile)
c.480-179A>T (n.480-179A>T)
1g.229432041T>CCA345146628ACTA1c.761A>G (p.Asn254Ser)
c.626A>G (p.Asn209Ser)
c.480-179A>G (n.480-179A>G)
1g.229432041T>GCA345146630ACTA1c.761A>C (p.Asn254Thr)
c.626A>C (p.Asn209Thr)
c.480-179A>C (n.480-179A>C)
1g.229432042T>ACA345146633ACTA1c.760A>T (p.Asn254Tyr)
c.625A>T (p.Asn209Tyr)
c.480-180A>T (n.480-180A>T)
1g.229432042T>CCA345146636ACTA1c.760A>G (p.Asn254Asp)
c.625A>G (p.Asn209Asp)
c.480-180A>G (n.480-180A>G)
1g.229432042T>GCA345146638ACTA1c.760A>C (p.Asn254His)
c.625A>C (p.Asn209His)
c.480-180A>C (n.480-180A>C)
1g.229432043G>ACA423754992ACTA1c.759C>T (p.Gly253=)
c.624C>T (p.Gly208=)
c.480-181C>T (n.480-181C>T)
1g.229432043G>CCA423754994ACTA1c.759C>G (p.Gly253=)
c.624C>G (p.Gly208=)
c.480-181C>G (n.480-181C>G)
 dbSNP
1g.229432043G=CA1226125625ACTA1c.759C= (p.Gly253=)
c.624C= (p.Gly208=)
c.480-181C= (n.480-181C=)
1g.229432043G>TCA423754993ACTA1c.759C>A (p.Gly253=)
c.624C>A (p.Gly208=)
c.480-181C>A (n.480-181C>A)
1g.229432044C>ACA345146641ACTA1c.758G>T (p.Gly253Val)
c.623G>T (p.Gly208Val)
c.480-182G>T (n.480-182G>T)
1g.229432044C>GCA345146643ACTA1c.758G>C (p.Gly253Ala)
c.623G>C (p.Gly208Ala)
c.480-182G>C (n.480-182G>C)
1g.229432044C>TCA345146645ACTA1c.758G>A (p.Gly253Asp)
c.623G>A (p.Gly208Asp)
c.480-182G>A (n.480-182G>A)
1g.229432045C>ACA345146649ACTA1c.757G>T (p.Gly253Cys)
c.622G>T (p.Gly208Cys)
c.480-183G>T (n.480-183G>T)
 ClinVar dbSNP
1g.229432045C>GCA345146651ACTA1c.757G>C (p.Gly253Arg)
c.622G>C (p.Gly208Arg)
c.480-183G>C (n.480-183G>C)
 gnomAD v4
1g.229432045C>TCA345146652ACTA1c.757G>A (p.Gly253Ser)
c.622G>A (p.Gly208Ser)
c.480-183G>A (n.480-183G>A)
 COSMIC
1g.229432046G>ACA423754997ACTA1c.756C>T (p.Ile252=)
c.621C>T (p.Ile207=)
c.480-184C>T (n.480-184C>T)
 dbSNP gnomAD v4 COSMIC
1g.229432046G>CCA345146657ACTA1c.756C>G (p.Ile252Met)
c.621C>G (p.Ile207Met)
c.480-184C>G (n.480-184C>G)
 COSMIC
1g.229432046G=CA1226125626ACTA1c.756C= (p.Ile252=)
c.621C= (p.Ile207=)
c.480-184C= (n.480-184C=)
1g.229432046G>TCA423754996ACTA1c.756C>A (p.Ile252=)
c.621C>A (p.Ile207=)
c.480-184C>A (n.480-184C>A)
 gnomAD v4
1g.229432047A>CCA345146661ACTA1c.755T>G (p.Ile252Ser)
c.620T>G (p.Ile207Ser)
c.480-185T>G (n.480-185T>G)
1g.229432047A>GCA345146663ACTA1c.755T>C (p.Ile252Thr)
c.620T>C (p.Ile207Thr)
c.480-185T>C (n.480-185T>C)
1g.229432047A>TCA345146665ACTA1c.755T>A (p.Ile252Asn)
c.620T>A (p.Ile207Asn)
c.480-185T>A (n.480-185T>A)
1g.229432048T>ACA345146668ACTA1c.754A>T (p.Ile252Phe)
c.619A>T (p.Ile207Phe)
c.480-186A>T (n.480-186A>T)

Number of alleles fetched