Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.57043138G>ACA480235406MYO1Ac.1032C>T (p.Ala344=)
c.120C>T (p.Ala40=)
c.546C>T (p.Ala182=)
12g.57043138G>CCA480235408MYO1Ac.1032C>G (p.Ala344=)
c.120C>G (p.Ala40=)
c.546C>G (p.Ala182=)
12g.57043138G>TCA480235404MYO1Ac.1032C>A (p.Ala344=)
c.120C>A (p.Ala40=)
c.546C>A (p.Ala182=)
12g.57043139G>ACA385384358MYO1Ac.1031C>T (p.Ala344Val)
c.119C>T (p.Ala40Val)
c.545C>T (p.Ala182Val)
12g.57043139G>CCA385384360MYO1Ac.1031C>G (p.Ala344Gly)
c.119C>G (p.Ala40Gly)
c.545C>G (p.Ala182Gly)
12g.57043139G>TCA385384363MYO1Ac.1031C>A (p.Ala344Asp)
c.119C>A (p.Ala40Asp)
c.545C>A (p.Ala182Asp)
12g.57043140C>ACA385384366MYO1Ac.1030G>T (p.Ala344Ser)
c.118G>T (p.Ala40Ser)
c.544G>T (p.Ala182Ser)
12g.57043140C=CA2038693355MYO1Ac.1030G= (p.Ala344=)
c.118G= (p.Ala40=)
c.544G= (p.Ala182=)
12g.57043140C>GCA385384368MYO1Ac.1030G>C (p.Ala344Pro)
c.118G>C (p.Ala40Pro)
c.544G>C (p.Ala182Pro)
12g.57043140C>TCA6640234MYO1Ac.1030G>A (p.Ala344Thr)
c.118G>A (p.Ala40Thr)
c.544G>A (p.Ala182Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.57043141G>ACA480235419MYO1Ac.1029C>T (p.Asp343=)
c.117C>T (p.Asp39=)
c.543C>T (p.Asp181=)
 dbSNP gnomAD v2 gnomAD v4
12g.57043141G>CCA385384376MYO1Ac.1029C>G (p.Asp343Glu)
c.117C>G (p.Asp39Glu)
c.543C>G (p.Asp181Glu)
12g.57043141G=CA2038693360MYO1Ac.1029C= (p.Asp343=)
c.117C= (p.Asp39=)
c.543C= (p.Asp181=)
12g.57043141G>TCA237705444MYO1Ac.1029C>A (p.Asp343Glu)
c.117C>A (p.Asp39Glu)
c.543C>A (p.Asp181Glu)
 dbSNP
12g.57043142T>ACA6640235MYO1Ac.1028A>T (p.Asp343Val)
c.116A>T (p.Asp39Val)
c.542A>T (p.Asp181Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57043142T>CCA385384382MYO1Ac.1028A>G (p.Asp343Gly)
c.116A>G (p.Asp39Gly)
c.542A>G (p.Asp181Gly)
 dbSNP gnomAD v4
12g.57043142T>GCA385384386MYO1Ac.1028A>C (p.Asp343Ala)
c.116A>C (p.Asp39Ala)
c.542A>C (p.Asp181Ala)
12g.57043142T=CA2038693379MYO1Ac.1028A= (p.Asp343=)
c.116A= (p.Asp39=)
c.542A= (p.Asp181=)
12g.57043143C>ACA6640236MYO1Ac.1027G>T (p.Asp343Tyr)
c.115G>T (p.Asp39Tyr)
c.541G>T (p.Asp181Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.57043143C=CA2038693391MYO1Ac.1027G= (p.Asp343=)
c.115G= (p.Asp39=)
c.541G= (p.Asp181=)
12g.57043143C>GCA385384392MYO1Ac.1027G>C (p.Asp343His)
c.115G>C (p.Asp39His)
c.541G>C (p.Asp181His)
 gnomAD v4
12g.57043143C>TCA385384394MYO1Ac.1027G>A (p.Asp343Asn)
c.115G>A (p.Asp39Asn)
c.541G>A (p.Asp181Asn)
12g.57043144C>ACA480235432MYO1Ac.1026G>T (p.Arg342=)
c.114G>T (p.Arg38=)
c.540G>T (p.Arg180=)
12g.57043144C>GCA480235435MYO1Ac.1026G>C (p.Arg342=)
c.114G>C (p.Arg38=)
c.540G>C (p.Arg180=)
12g.57043144C>TCA480235437MYO1Ac.1026G>A (p.Arg342=)
c.114G>A (p.Arg38=)
c.540G>A (p.Arg180=)
 dbSNP
12g.57043145C>ACA385384398MYO1Ac.1025G>T (p.Arg342Leu)
c.113G>T (p.Arg38Leu)
c.539G>T (p.Arg180Leu)
 dbSNP gnomAD v4
12g.57043145C=CA2038693400MYO1Ac.1025G= (p.Arg342=)
c.113G= (p.Arg38=)
c.539G= (p.Arg180=)
12g.57043145C>GCA385384403MYO1Ac.1025G>C (p.Arg342Pro)
c.113G>C (p.Arg38Pro)
c.539G>C (p.Arg180Pro)
12g.57043145C>TCA6640237MYO1Ac.1025G>A (p.Arg342Gln)
c.113G>A (p.Arg38Gln)
c.539G>A (p.Arg180Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.57043146G>ACA6640238MYO1Ac.1024C>T (p.Arg342Trp)
c.112C>T (p.Arg38Trp)
c.538C>T (p.Arg180Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.57043146G>CCA385384406MYO1Ac.1024C>G (p.Arg342Gly)
c.112C>G (p.Arg38Gly)
c.538C>G (p.Arg180Gly)
12g.57043146G=CA2038693411MYO1Ac.1024C= (p.Arg342=)
c.112C= (p.Arg38=)
c.538C= (p.Arg180=)
12g.57043146G>TCA480235446MYO1Ac.1024C>A (p.Arg342=)
c.112C>A (p.Arg38=)
c.538C>A (p.Arg180=)
 gnomAD v4
12g.57043147A=CA2038693414MYO1Ac.1023T= (p.Ala341=)
c.111T= (p.Ala37=)
c.537T= (p.Ala179=)
12g.57043147A>CCA480235449MYO1Ac.1023T>G (p.Ala341=)
c.111T>G (p.Ala37=)
c.537T>G (p.Ala179=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.57043147A>GCA480235450MYO1Ac.1023T>C (p.Ala341=)
c.111T>C (p.Ala37=)
c.537T>C (p.Ala179=)
12g.57043147A>TCA480235452MYO1Ac.1023T>A (p.Ala341=)
c.111T>A (p.Ala37=)
c.537T>A (p.Ala179=)
12g.57043148G>ACA237705446MYO1Ac.1022C>T (p.Ala341Val)
c.110C>T (p.Ala37Val)
c.536C>T (p.Ala179Val)
 dbSNP
12g.57043148G>CCA385384411MYO1Ac.1022C>G (p.Ala341Gly)
c.110C>G (p.Ala37Gly)
c.536C>G (p.Ala179Gly)
12g.57043148G=CA2038693416MYO1Ac.1022C= (p.Ala341=)
c.110C= (p.Ala37=)
c.536C= (p.Ala179=)
12g.57043148G>TCA385384414MYO1Ac.1022C>A (p.Ala341Asp)
c.110C>A (p.Ala37Asp)
c.536C>A (p.Ala179Asp)
12g.57043149C>ACA385384417MYO1Ac.1021G>T (p.Ala341Ser)
c.109G>T (p.Ala37Ser)
c.535G>T (p.Ala179Ser)
12g.57043149C>GCA385384420MYO1Ac.1021G>C (p.Ala341Pro)
c.109G>C (p.Ala37Pro)
c.535G>C (p.Ala179Pro)
12g.57043149C>TCA385384423MYO1Ac.1021G>A (p.Ala341Thr)
c.109G>A (p.Ala37Thr)
c.535G>A (p.Ala179Thr)
12g.57043150A>CCA385384426MYO1Ac.1020T>G (p.Tyr340Ter)
c.108T>G (p.Tyr36Ter)
c.534T>G (p.Tyr178Ter)
12g.57043150A>GCA480235462MYO1Ac.1020T>C (p.Tyr340=)
c.108T>C (p.Tyr36=)
c.534T>C (p.Tyr178=)
12g.57043150A>TCA385384428MYO1Ac.1020T>A (p.Tyr340Ter)
c.108T>A (p.Tyr36Ter)
c.534T>A (p.Tyr178Ter)
12g.57043151T>ACA385384435MYO1Ac.1019A>T (p.Tyr340Phe)
c.107A>T (p.Tyr36Phe)
c.533A>T (p.Tyr178Phe)
12g.57043151T>CCA6640239MYO1Ac.1019A>G (p.Tyr340Cys)
c.107A>G (p.Tyr36Cys)
c.533A>G (p.Tyr178Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.57043151T>GCA385384432MYO1Ac.1019A>C (p.Tyr340Ser)
c.107A>C (p.Tyr36Ser)
c.533A>C (p.Tyr178Ser)

Number of alleles fetched