Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110914222_110914224delinsTAA | CA2063072498 | MYL2 | c.236_238delinsTTA (p.Phe79=) c.179_181delinsTTA (p.Phe60=) c.194_196delinsTTA (p.Phe65=) n.67_69delinsTTA | |
12 | g.110914224_110914225del | CA607329953 | MYL2 | c.236_237del (p.Phe79TyrfsTer12) c.179_180del (p.Phe60TyrfsTer12) c.194_195del (p.Phe65TyrfsTer12) n.67_68del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110914223_110914228delinsAAAGTT | CA2063072516 | MYL2 | c.232_237delinsAACTTT (p.Asn78=) c.175_180delinsAACTTT (p.Asn59=) c.190_195delinsAACTTT (p.Asn64=) n.63_68delinsAACTTT | |
12 | g.110914224A>C | CA386698719 | MYL2 | c.236T>G (p.Phe79Cys) c.179T>G (p.Phe60Cys) c.194T>G (p.Phe65Cys) n.67T>G | COSMIC |
12 | g.110914224A>G | CA386698720 | MYL2 | c.236T>C (p.Phe79Ser) c.179T>C (p.Phe60Ser) c.194T>C (p.Phe65Ser) n.67T>C | |
12 | g.110914224A>T | CA386698721 | MYL2 | c.236T>A (p.Phe79Tyr) c.179T>A (p.Phe60Tyr) c.194T>A (p.Phe65Tyr) n.67T>A | |
12 | g.110914226_110914230del | CA2063072523 | MYL2 | c.232_236del (p.Asn78TyrfsTer12) c.175_179del (p.Asn59TyrfsTer12) c.190_194del (p.Asn64TyrfsTer12) n.63_67del | dbSNP |
12 | g.110914225A>C | CA386698722 | MYL2 | c.235T>G (p.Phe79Val) c.178T>G (p.Phe60Val) c.193T>G (p.Phe65Val) n.66T>G | |
12 | g.110914225A>G | CA386698724 | MYL2 | c.235T>C (p.Phe79Leu) c.178T>C (p.Phe60Leu) c.193T>C (p.Phe65Leu) n.66T>C | |
12 | g.110914225A>T | CA386698723 | MYL2 | c.235T>A (p.Phe79Ile) c.178T>A (p.Phe60Ile) c.193T>A (p.Phe65Ile) n.66T>A | |
12 | g.110914226G>A | CA481751010 | MYL2 | c.234C>T (p.Asn78=) c.177C>T (p.Asn59=) c.192C>T (p.Asn64=) n.65C>T | |
12 | g.110914226G>C | CA386698725 | MYL2 | c.234C>G (p.Asn78Lys) c.177C>G (p.Asn59Lys) c.192C>G (p.Asn64Lys) n.65C>G | |
12 | g.110914226G>T | CA386698726 | MYL2 | c.234C>A (p.Asn78Lys) c.177C>A (p.Asn59Lys) c.192C>A (p.Asn64Lys) n.65C>A | |
12 | g.110914227T>A | CA386698727 | MYL2 | c.233A>T (p.Asn78Ile) c.176A>T (p.Asn59Ile) c.191A>T (p.Asn64Ile) n.64A>T | |
12 | g.110914227T>C | CA386698728 | MYL2 | c.233A>G (p.Asn78Ser) c.176A>G (p.Asn59Ser) c.191A>G (p.Asn64Ser) n.64A>G | |
12 | g.110914227T>G | CA386698729 | MYL2 | c.233A>C (p.Asn78Thr) c.176A>C (p.Asn59Thr) c.191A>C (p.Asn64Thr) n.64A>C | |
12 | g.110914228T>A | CA386698730 | MYL2 | c.232A>T (p.Asn78Tyr) c.175A>T (p.Asn59Tyr) c.190A>T (p.Asn64Tyr) n.63A>T | |
12 | g.110914228T>C | CA386698731 | MYL2 | c.232A>G (p.Asn78Asp) c.175A>G (p.Asn59Asp) c.190A>G (p.Asn64Asp) n.63A>G | ClinVar dbSNP |
12 | g.110914228T>G | CA386698732 | MYL2 | c.232A>C (p.Asn78His) c.175A>C (p.Asn59His) c.190A>C (p.Asn64His) n.63A>C | |
12 | g.110914229A>C | CA386698733 | MYL2 | c.231T>G (p.Ile77Met) c.174T>G (p.Ile58Met) c.189T>G (p.Ile63Met) n.62T>G | |
12 | g.110914229A>G | CA481751012 | MYL2 | c.231T>C (p.Ile77=) c.174T>C (p.Ile58=) c.189T>C (p.Ile63=) n.62T>C | |
12 | g.110914229A>T | CA481751011 | MYL2 | c.231T>A (p.Ile77=) c.174T>A (p.Ile58=) c.189T>A (p.Ile63=) n.62T>A | |
12 | g.110914230A>C | CA386698734 | MYL2 | c.230T>G (p.Ile77Ser) c.173T>G (p.Ile58Ser) c.188T>G (p.Ile63Ser) n.61T>G | |
12 | g.110914230A>G | CA386698735 | MYL2 | c.230T>C (p.Ile77Thr) c.173T>C (p.Ile58Thr) c.188T>C (p.Ile63Thr) n.61T>C | |
12 | g.110914230A>T | CA386698736 | MYL2 | c.230T>A (p.Ile77Asn) c.173T>A (p.Ile58Asn) c.188T>A (p.Ile63Asn) n.61T>A | COSMIC |
12 | g.110914231T>A | CA386698738 | MYL2 | c.229A>T (p.Ile77Phe) c.172A>T (p.Ile58Phe) c.187A>T (p.Ile63Phe) n.60A>T | |
12 | g.110914231T>C | CA040848 | MYL2 | c.229A>G (p.Ile77Val) c.172A>G (p.Ile58Val) c.187A>G (p.Ile63Val) n.60A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914231T>G | CA386698737 | MYL2 | c.229A>C (p.Ile77Leu) c.172A>C (p.Ile58Leu) c.187A>C (p.Ile63Leu) n.60A>C | |
12 | g.110914231T= | CA2063072529 | MYL2 | c.229A= (p.Ile77=) c.172A= (p.Ile58=) c.187A= (p.Ile63=) n.60A= | |
12 | g.110914232T>A | CA481751013 | MYL2 | c.228A>T (p.Pro76=) c.171A>T (p.Pro57=) c.186A>T (p.Pro62=) n.59A>T | |
12 | g.110914232T>C | CA040823 | MYL2 | c.228A>G (p.Pro76=) c.171A>G (p.Pro57=) c.186A>G (p.Pro62=) n.59A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914232T>G | CA481751014 | MYL2 | c.228A>C (p.Pro76=) c.171A>C (p.Pro57=) c.186A>C (p.Pro62=) n.59A>C | gnomAD v4 |
12 | g.110914232T= | CA2063072536 | MYL2 | c.228A= (p.Pro76=) c.171A= (p.Pro57=) c.186A= (p.Pro62=) n.59A= | |
12 | g.110914233G>A | CA243562240 | MYL2 | c.227C>T (p.Pro76Leu) c.170C>T (p.Pro57Leu) c.185C>T (p.Pro62Leu) n.58C>T | dbSNP |
12 | g.110914233G>C | CA386698739 | MYL2 | c.227C>G (p.Pro76Arg) c.170C>G (p.Pro57Arg) c.185C>G (p.Pro62Arg) n.58C>G | |
12 | g.110914233G= | CA2063072544 | MYL2 | c.227C= (p.Pro76=) c.170C= (p.Pro57=) c.185C= (p.Pro62=) n.58C= | |
12 | g.110914233G>T | CA386698740 | MYL2 | c.227C>A (p.Pro76Gln) c.170C>A (p.Pro57Gln) c.185C>A (p.Pro62Gln) n.58C>A | |
12 | g.110914234G>A | CA386698741 | MYL2 | c.226C>T (p.Pro76Ser) c.169C>T (p.Pro57Ser) c.184C>T (p.Pro62Ser) n.57C>T | |
12 | g.110914234G>C | CA386698742 | MYL2 | c.226C>G (p.Pro76Ala) c.169C>G (p.Pro57Ala) c.184C>G (p.Pro62Ala) n.57C>G | dbSNP gnomAD v4 |
12 | g.110914234G= | CA2063072548 | MYL2 | c.226C= (p.Pro76=) c.169C= (p.Pro57=) c.184C= (p.Pro62=) n.57C= | |
12 | g.110914234G>T | CA386698743 | MYL2 | c.226C>A (p.Pro76Thr) c.169C>A (p.Pro57Thr) c.184C>A (p.Pro62Thr) n.57C>A | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914235A>C | CA481751015 | MYL2 | c.225T>G (p.Gly75=) c.168T>G (p.Gly56=) c.183T>G (p.Gly61=) n.56T>G | |
12 | g.110914235A>G | CA481751016 | MYL2 | c.225T>C (p.Gly75=) c.168T>C (p.Gly56=) c.183T>C (p.Gly61=) n.56T>C | |
12 | g.110914235A>T | CA481751017 | MYL2 | c.225T>A (p.Gly75=) c.168T>A (p.Gly56=) c.183T>A (p.Gly61=) n.56T>A | |
12 | g.110914236C>A | CA386698744 | MYL2 | c.224G>T (p.Gly75Val) c.167G>T (p.Gly56Val) c.182G>T (p.Gly61Val) n.55G>T | dbSNP |
12 | g.110914236C= | CA2063072553 | MYL2 | c.224G= (p.Gly75=) c.167G= (p.Gly56=) c.182G= (p.Gly61=) n.55G= | |
12 | g.110914236C>G | CA386698745 | MYL2 | c.224G>C (p.Gly75Ala) c.167G>C (p.Gly56Ala) c.182G>C (p.Gly61Ala) n.55G>C | |
12 | g.110914236C>T | CA386698746 | MYL2 | c.224G>A (p.Gly75Asp) c.167G>A (p.Gly56Asp) c.182G>A (p.Gly61Asp) n.55G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914238del | CA2825002054 | MYL2 | c.224del (p.Gly75ValfsTer?) c.167del (p.Gly56ValfsTer?) c.182del (p.Gly61ValfsTer?) n.55del | ClinVar |
12 | g.110914237C>A | CA386698747 | MYL2 | c.223G>T (p.Gly75Cys) c.166G>T (p.Gly56Cys) c.181G>T (p.Gly61Cys) n.54G>T | |
12 | g.110914237C= | CA2063072557 | MYL2 | c.223G= (p.Gly75=) c.166G= (p.Gly56=) c.181G= (p.Gly61=) n.54G= | |
12 | g.110914237C>G | CA386698748 | MYL2 | c.223G>C (p.Gly75Arg) c.166G>C (p.Gly56Arg) c.181G>C (p.Gly61Arg) n.54G>C | |
12 | g.110914237C>T | CA386698749 | MYL2 | c.223G>A (p.Gly75Ser) c.166G>A (p.Gly56Ser) c.181G>A (p.Gly61Ser) n.54G>A | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110914238C>A | CA481751018 | MYL2 | c.222G>T (p.Pro74=) c.165G>T (p.Pro55=) c.180G>T (p.Pro60=) n.53G>T | ClinVar gnomAD v4 |
12 | g.110914238C= | CA2063072563 | MYL2 | c.222G= (p.Pro74=) c.165G= (p.Pro55=) c.180G= (p.Pro60=) n.53G= | |
12 | g.110914238C>G | CA481751019 | MYL2 | c.222G>C (p.Pro74=) c.165G>C (p.Pro55=) c.180G>C (p.Pro60=) n.53G>C | |
12 | g.110914238C>T | CA040809 | MYL2 | c.222G>A (p.Pro74=) c.165G>A (p.Pro55=) c.180G>A (p.Pro60=) n.53G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.110914239G>A | CA243562249 | MYL2 | c.221C>T (p.Pro74Leu) c.164C>T (p.Pro55Leu) c.179C>T (p.Pro60Leu) n.52C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914239G>C | CA386698750 | MYL2 | c.221C>G (p.Pro74Arg) c.164C>G (p.Pro55Arg) c.179C>G (p.Pro60Arg) n.52C>G | ClinVar |
12 | g.110914239G= | CA2063072569 | MYL2 | c.221C= (p.Pro74=) c.164C= (p.Pro55=) c.179C= (p.Pro60=) n.52C= | |
12 | g.110914239G>T | CA386698751 | MYL2 | c.221C>A (p.Pro74Gln) c.164C>A (p.Pro55Gln) c.179C>A (p.Pro60Gln) n.52C>A | |
12 | g.110914240G>A | CA386698752 | MYL2 | c.220C>T (p.Pro74Ser) c.163C>T (p.Pro55Ser) c.178C>T (p.Pro60Ser) n.51C>T | ClinVar dbSNP |
12 | g.110914240G>C | CA386698753 | MYL2 | c.220C>G (p.Pro74Ala) c.163C>G (p.Pro55Ala) c.178C>G (p.Pro60Ala) n.51C>G | |
12 | g.110914240G>T | CA386698754 | MYL2 | c.220C>A (p.Pro74Thr) c.163C>A (p.Pro55Thr) c.178C>A (p.Pro60Thr) n.51C>A | COSMIC |
12 | g.110914241A>C | CA481751020 | MYL2 | c.219T>G (p.Ala73=) c.162T>G (p.Ala54=) c.177T>G (p.Ala59=) n.50T>G | |
12 | g.110914241A>G | CA481751022 | MYL2 | c.219T>C (p.Ala73=) c.162T>C (p.Ala54=) c.177T>C (p.Ala59=) n.50T>C | gnomAD v4 |
12 | g.110914241A>T | CA481751021 | MYL2 | c.219T>A (p.Ala73=) c.162T>A (p.Ala54=) c.177T>A (p.Ala59=) n.50T>A | |
12 | g.110914242G>A | CA386698755 | MYL2 | c.218C>T (p.Ala73Val) c.161C>T (p.Ala54Val) c.176C>T (p.Ala59Val) n.49C>T | gnomAD v4 COSMIC |
12 | g.110914242G>C | CA386698756 | MYL2 | c.218C>G (p.Ala73Gly) c.161C>G (p.Ala54Gly) c.176C>G (p.Ala59Gly) n.49C>G | |
12 | g.110914242G>T | CA386698757 | MYL2 | c.218C>A (p.Ala73Asp) c.161C>A (p.Ala54Asp) c.176C>A (p.Ala59Asp) n.49C>A | ClinVar dbSNP |
12 | g.110914243C>A | CA386698758 | MYL2 | c.217G>T (p.Ala73Ser) c.160G>T (p.Ala54Ser) c.175G>T (p.Ala59Ser) n.48G>T | ClinVar dbSNP |
12 | g.110914243C>G | CA386698759 | MYL2 | c.217G>C (p.Ala73Pro) c.160G>C (p.Ala54Pro) c.175G>C (p.Ala59Pro) n.48G>C | |
12 | g.110914243C>T | CA386698760 | MYL2 | c.217G>A (p.Ala73Thr) c.160G>A (p.Ala54Thr) c.175G>A (p.Ala59Thr) n.48G>A | |
12 | g.110914244del | CA2573053599 | MYL2 | c.217del (p.Ala73LeufsTer?) c.160del (p.Ala54LeufsTer?) c.175del (p.Ala59LeufsTer?) n.48del | ClinVar dbSNP |
12 | g.110914244C>A | CA386698761 | MYL2 | c.216G>T (p.Glu72Asp) c.159G>T (p.Glu53Asp) c.174G>T (p.Glu58Asp) n.47G>T | |
12 | g.110914244C= | CA2063072580 | MYL2 | c.216G= (p.Glu72=) c.159G= (p.Glu53=) c.174G= (p.Glu58=) n.47G= | |
12 | g.110914244C>G | CA386698762 | MYL2 | c.216G>C (p.Glu72Asp) c.159G>C (p.Glu53Asp) c.174G>C (p.Glu58Asp) n.47G>C | ClinVar dbSNP gnomAD v4 |
12 | g.110914244C>T | CA040768 | MYL2 | c.216G>A (p.Glu72=) c.159G>A (p.Glu53=) c.174G>A (p.Glu58=) n.47G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914245T>A | CA386698765 | MYL2 | c.215A>T (p.Glu72Val) c.158A>T (p.Glu53Val) c.173A>T (p.Glu58Val) n.46A>T | |
12 | g.110914245T>C | CA386698764 | MYL2 | c.215A>G (p.Glu72Gly) c.158A>G (p.Glu53Gly) c.173A>G (p.Glu58Gly) n.46A>G | |
12 | g.110914245T>G | CA386698763 | MYL2 | c.215A>C (p.Glu72Ala) c.158A>C (p.Glu53Ala) c.173A>C (p.Glu58Ala) n.46A>C | |
12 | g.110914246C>A | CA386698766 | MYL2 | c.214G>T (p.Glu72Ter) c.157G>T (p.Glu53Ter) c.172G>T (p.Glu58Ter) n.45G>T | |
12 | g.110914246C>G | CA386698767 | MYL2 | c.214G>C (p.Glu72Gln) c.157G>C (p.Glu53Gln) c.172G>C (p.Glu58Gln) n.45G>C | |
12 | g.110914246C>T | CA386698768 | MYL2 | c.214G>A (p.Glu72Lys) c.157G>A (p.Glu53Lys) c.172G>A (p.Glu58Lys) n.45G>A | |
12 | g.110914247C>A | CA386698769 | MYL2 | c.213G>T (p.Lys71Asn) c.156G>T (p.Lys52Asn) c.171G>T (p.Lys57Asn) n.44G>T | |
12 | g.110914247C= | CA2063072590 | MYL2 | c.213G= (p.Lys71=) c.156G= (p.Lys52=) c.171G= (p.Lys57=) n.44G= | |
12 | g.110914247C>G | CA386698770 | MYL2 | c.213G>C (p.Lys71Asn) c.156G>C (p.Lys52Asn) c.171G>C (p.Lys57Asn) n.44G>C | |
12 | g.110914247C>T | CA481751023 | MYL2 | c.213G>A (p.Lys71=) c.156G>A (p.Lys52=) c.171G>A (p.Lys57=) n.44G>A | dbSNP |
12 | g.110914248T>A | CA386698771 | MYL2 | c.212A>T (p.Lys71Met) c.155A>T (p.Lys52Met) c.170A>T (p.Lys57Met) n.43A>T | ClinVar dbSNP |
12 | g.110914248T>C | CA386698772 | MYL2 | c.212A>G (p.Lys71Arg) c.155A>G (p.Lys52Arg) c.170A>G (p.Lys57Arg) n.43A>G | gnomAD v4 |
12 | g.110914248T>G | CA386698773 | MYL2 | c.212A>C (p.Lys71Thr) c.155A>C (p.Lys52Thr) c.170A>C (p.Lys57Thr) n.43A>C | |
12 | g.110914249T>A | CA386698774 | MYL2 | c.211A>T (p.Lys71Ter) c.154A>T (p.Lys52Ter) c.169A>T (p.Lys57Ter) n.42A>T | |
12 | g.110914249T>C | CA386698776 | MYL2 | c.211A>G (p.Lys71Glu) c.154A>G (p.Lys52Glu) c.169A>G (p.Lys57Glu) n.42A>G | COSMIC |
12 | g.110914249T>G | CA386698775 | MYL2 | c.211A>C (p.Lys71Gln) c.154A>C (p.Lys52Gln) c.169A>C (p.Lys57Gln) n.42A>C | |
12 | g.110914250G>A | CA481751024 | MYL2 | c.210C>T (p.Ile70=) c.153C>T (p.Ile51=) c.168C>T (p.Ile56=) n.41C>T | COSMIC |
12 | g.110914250G>C | CA386698777 | MYL2 | c.210C>G (p.Ile70Met) c.153C>G (p.Ile51Met) c.168C>G (p.Ile56Met) n.41C>G | |
12 | g.110914250G>T | CA481751025 | MYL2 | c.210C>A (p.Ile70=) c.153C>A (p.Ile51=) c.168C>A (p.Ile56=) n.41C>A | gnomAD v4 |
12 | g.110914251A>C | CA386698778 | MYL2 | c.209T>G (p.Ile70Ser) c.152T>G (p.Ile51Ser) c.167T>G (p.Ile56Ser) n.40T>G | |
12 | g.110914251A>G | CA386698779 | MYL2 | c.209T>C (p.Ile70Thr) c.152T>C (p.Ile51Thr) c.167T>C (p.Ile56Thr) n.40T>C | gnomAD v4 |
12 | g.110914251A>T | CA386698780 | MYL2 | c.209T>A (p.Ile70Asn) c.152T>A (p.Ile51Asn) c.167T>A (p.Ile56Asn) n.40T>A | |
12 | g.110914252T>A | CA386698781 | MYL2 | c.208A>T (p.Ile70Phe) c.151A>T (p.Ile51Phe) c.166A>T (p.Ile56Phe) n.39A>T | |
12 | g.110914252T>C | CA386698783 | MYL2 | c.208A>G (p.Ile70Val) c.151A>G (p.Ile51Val) c.166A>G (p.Ile56Val) n.39A>G | |
12 | g.110914252T>G | CA386698782 | MYL2 | c.208A>C (p.Ile70Leu) c.151A>C (p.Ile51Leu) c.166A>C (p.Ile56Leu) n.39A>C | |
12 | g.110914253C>A | CA386698784 | MYL2 | c.207G>T (p.Met69Ile) c.150G>T (p.Met50Ile) c.165G>T (p.Met55Ile) n.38G>T | ClinVar dbSNP gnomAD v4 |
12 | g.110914253C= | CA2063072605 | MYL2 | c.207G= (p.Met69=) c.150G= (p.Met50=) c.165G= (p.Met55=) n.38G= | |
12 | g.110914253C>G | CA386698785 | MYL2 | c.207G>C (p.Met69Ile) c.150G>C (p.Met50Ile) c.165G>C (p.Met55Ile) n.38G>C | |
12 | g.110914253C>T | CA243562260 | MYL2 | c.207G>A (p.Met69Ile) c.150G>A (p.Met50Ile) c.165G>A (p.Met55Ile) n.38G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914254A= | CA2063072617 | MYL2 | c.206T= (p.Met69=) c.149T= (p.Met50=) c.164T= (p.Met55=) n.37T= | |
12 | g.110914254A>C | CA386698786 | MYL2 | c.206T>G (p.Met69Arg) c.149T>G (p.Met50Arg) c.164T>G (p.Met55Arg) n.37T>G | |
12 | g.110914254A>G | CA386698787 | MYL2 | c.206T>C (p.Met69Thr) c.149T>C (p.Met50Thr) c.164T>C (p.Met55Thr) n.37T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914254A>T | CA386698788 | MYL2 | c.206T>A (p.Met69Lys) c.149T>A (p.Met50Lys) c.164T>A (p.Met55Lys) n.37T>A | |
12 | g.110914255T>A | CA386698789 | MYL2 | c.205A>T (p.Met69Leu) c.148A>T (p.Met50Leu) c.163A>T (p.Met55Leu) n.36A>T | |
12 | g.110914255T>C | CA386698790 | MYL2 | c.205A>G (p.Met69Val) c.148A>G (p.Met50Val) c.163A>G (p.Met55Val) n.36A>G | |
12 | g.110914255T>G | CA386698791 | MYL2 | c.205A>C (p.Met69Leu) c.148A>C (p.Met50Leu) c.163A>C (p.Met55Leu) n.36A>C | ClinVar dbSNP |
12 | g.110914256T>A | CA386698792 | MYL2 | c.204A>T (p.Glu68Asp) c.147A>T (p.Glu49Asp) c.162A>T (p.Glu54Asp) n.35A>T | |
12 | g.110914256T>C | CA481751026 | MYL2 | c.204A>G (p.Glu68=) c.147A>G (p.Glu49=) c.162A>G (p.Glu54=) n.35A>G | dbSNP |
12 | g.110914256T>G | CA386698793 | MYL2 | c.204A>C (p.Glu68Asp) c.147A>C (p.Glu49Asp) c.162A>C (p.Glu54Asp) n.35A>C | |
12 | g.110914256T= | CA2063072633 | MYL2 | c.204A= (p.Glu68=) c.147A= (p.Glu49=) c.162A= (p.Glu54=) n.35A= | |
12 | g.110914257T>A | CA386698795 | MYL2 | c.203A>T (p.Glu68Val) c.146A>T (p.Glu49Val) c.161A>T (p.Glu54Val) n.34A>T | |
12 | g.110914257T>C | CA040751 | MYL2 | c.203A>G (p.Glu68Gly) c.146A>G (p.Glu49Gly) c.161A>G (p.Glu54Gly) n.34A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914257T>G | CA386698794 | MYL2 | c.203A>C (p.Glu68Ala) c.146A>C (p.Glu49Ala) c.161A>C (p.Glu54Ala) n.34A>C | ClinVar |
12 | g.110914257T= | CA2063072637 | MYL2 | c.203A= (p.Glu68=) c.146A= (p.Glu49=) c.161A= (p.Glu54=) n.34A= | |
12 | g.110914258_110914264del | CA2573147987 | MYL2 | c.197_203del (p.Ile66LysfsTer2) c.140_146del (p.Ile47LysfsTer2) c.155_161del (p.Ile52LysfsTer2) n.28_34del | ClinVar dbSNP |
12 | g.110914258C>A | CA386698796 | MYL2 | c.202G>T (p.Glu68Ter) c.145G>T (p.Glu49Ter) c.160G>T (p.Glu54Ter) n.33G>T | |
12 | g.110914258C>G | CA386698798 | MYL2 | c.202G>C (p.Glu68Gln) c.145G>C (p.Glu49Gln) c.160G>C (p.Glu54Gln) n.33G>C | |
12 | g.110914258C>T | CA386698797 | MYL2 | c.202G>A (p.Glu68Lys) c.145G>A (p.Glu49Lys) c.160G>A (p.Glu54Lys) n.33G>A | |
12 | g.110914259A>C | CA386698799 | MYL2 | c.201T>G (p.Asp67Glu) c.144T>G (p.Asp48Glu) c.159T>G (p.Asp53Glu) n.32T>G | |
12 | g.110914259A>G | CA481751027 | MYL2 | c.201T>C (p.Asp67=) c.144T>C (p.Asp48=) c.159T>C (p.Asp53=) n.32T>C | |
12 | g.110914259A>T | CA386698800 | MYL2 | c.201T>A (p.Asp67Glu) c.144T>A (p.Asp48Glu) c.159T>A (p.Asp53Glu) n.32T>A | |
12 | g.110914260T>A | CA386698801 | MYL2 | c.200A>T (p.Asp67Val) c.143A>T (p.Asp48Val) c.158A>T (p.Asp53Val) n.31A>T | |
12 | g.110914260T>C | CA386698802 | MYL2 | c.200A>G (p.Asp67Gly) c.143A>G (p.Asp48Gly) c.158A>G (p.Asp53Gly) n.31A>G | |
12 | g.110914260T>G | CA386698803 | MYL2 | c.200A>C (p.Asp67Ala) c.143A>C (p.Asp48Ala) c.158A>C (p.Asp53Ala) n.31A>C | |
12 | g.110914261C>A | CA386698804 | MYL2 | c.199G>T (p.Asp67Tyr) c.142G>T (p.Asp48Tyr) c.157G>T (p.Asp53Tyr) n.30G>T | |
12 | g.110914261C>G | CA386698805 | MYL2 | c.199G>C (p.Asp67His) c.142G>C (p.Asp48His) c.157G>C (p.Asp53His) n.30G>C | |
12 | g.110914261C>T | CA386698806 | MYL2 | c.199G>A (p.Asp67Asn) c.142G>A (p.Asp48Asn) c.157G>A (p.Asp53Asn) n.30G>A | |
12 | g.110914262A= | CA2063072646 | MYL2 | c.198T= (p.Ile66=) c.141T= (p.Ile47=) c.156T= (p.Ile52=) n.29T= | |
12 | g.110914262A>C | CA386698807 | MYL2 | c.198T>G (p.Ile66Met) c.141T>G (p.Ile47Met) c.156T>G (p.Ile52Met) n.29T>G | |
12 | g.110914262A>G | CA040723 | MYL2 | c.198T>C (p.Ile66=) c.141T>C (p.Ile47=) c.156T>C (p.Ile52=) n.29T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914262A>T | CA481751028 | MYL2 | c.198T>A (p.Ile66=) c.141T>A (p.Ile47=) c.156T>A (p.Ile52=) n.29T>A | dbSNP gnomAD v2 |
12 | g.110914263A>C | CA386698808 | MYL2 | c.197T>G (p.Ile66Ser) c.140T>G (p.Ile47Ser) c.155T>G (p.Ile52Ser) n.28T>G | |
12 | g.110914263A>G | CA386698809 | MYL2 | c.197T>C (p.Ile66Thr) c.140T>C (p.Ile47Thr) c.155T>C (p.Ile52Thr) n.28T>C | |
12 | g.110914263A>T | CA386698810 | MYL2 | c.197T>A (p.Ile66Asn) c.140T>A (p.Ile47Asn) c.155T>A (p.Ile52Asn) n.28T>A | |
12 | g.110914264T>A | CA386698811 | MYL2 | c.196A>T (p.Ile66Phe) c.139A>T (p.Ile47Phe) c.154A>T (p.Ile52Phe) n.27A>T | |
12 | g.110914264T>C | CA386698812 | MYL2 | c.196A>G (p.Ile66Val) c.139A>G (p.Ile47Val) c.154A>G (p.Ile52Val) n.27A>G | |
12 | g.110914264T>G | CA386698813 | MYL2 | c.196A>C (p.Ile66Leu) c.139A>C (p.Ile47Leu) c.154A>C (p.Ile52Leu) n.27A>C | COSMIC |
12 | g.110914264_110914267delinsTTTC | CA2063072654 | MYL2 | c.193_196delinsGAAA (p.Glu65=) c.136_139delinsGAAA (p.Glu46=) c.151_154delinsGAAA (p.Glu51=) n.24_27delinsGAAA | |
12 | g.110914268_110914277dup | CA2575293013 | MYL2 | c.187_196dup (p.Ile66LysfsTer2) c.130_139dup (p.Ile47LysfsTer2) c.145_154dup (p.Ile52LysfsTer2) n.18_27dup | |
12 | g.110914265T>A | CA386698814 | MYL2 | c.195A>T (p.Glu65Asp) c.138A>T (p.Glu46Asp) c.153A>T (p.Glu51Asp) n.26A>T | |
12 | g.110914265T>C | CA481751029 | MYL2 | c.195A>G (p.Glu65=) c.138A>G (p.Glu46=) c.153A>G (p.Glu51=) n.26A>G | dbSNP |
12 | g.110914265T>G | CA386698815 | MYL2 | c.195A>C (p.Glu65Asp) c.138A>C (p.Glu46Asp) c.153A>C (p.Glu51Asp) n.26A>C | |
12 | g.110914265T= | CA2063072660 | MYL2 | c.195A= (p.Glu65=) c.138A= (p.Glu46=) c.153A= (p.Glu51=) n.26A= | |
12 | g.110914268_110914270del | CA607329960 | MYL2 | c.193_195del (p.Glu65del) c.136_138del (p.Glu46del) c.151_153del (p.Glu51del) n.24_26del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914266T>A | CA386698816 | MYL2 | c.194A>T (p.Glu65Val) c.137A>T (p.Glu46Val) c.152A>T (p.Glu51Val) n.25A>T | |
12 | g.110914266T>C | CA386698817 | MYL2 | c.194A>G (p.Glu65Gly) c.137A>G (p.Glu46Gly) c.152A>G (p.Glu51Gly) n.25A>G | gnomAD v4 |
12 | g.110914266T>G | CA386698818 | MYL2 | c.194A>C (p.Glu65Ala) c.137A>C (p.Glu46Ala) c.152A>C (p.Glu51Ala) n.25A>C | dbSNP |
12 | g.110914266T= | CA2063072665 | MYL2 | c.194A= (p.Glu65=) c.137A= (p.Glu46=) c.152A= (p.Glu51=) n.25A= | |
12 | g.110914267C>A | CA386698819 | MYL2 | c.193G>T (p.Glu65Ter) c.136G>T (p.Glu46Ter) c.151G>T (p.Glu51Ter) n.24G>T | ClinVar dbSNP |
12 | g.110914267C= | CA2063072669 | MYL2 | c.193G= (p.Glu65=) c.136G= (p.Glu46=) c.151G= (p.Glu51=) n.24G= | |
12 | g.110914267C>G | CA386698820 | MYL2 | c.193G>C (p.Glu65Gln) c.136G>C (p.Glu46Gln) c.151G>C (p.Glu51Gln) n.24G>C | |
12 | g.110914267C>T | CA009936 | MYL2 | c.193G>A (p.Glu65Lys) c.136G>A (p.Glu46Lys) c.151G>A (p.Glu51Lys) n.24G>A | ClinVar dbSNP |
12 | g.110914268T>A | CA386698821 | MYL2 | c.192A>T (p.Glu64Asp) c.135A>T (p.Glu45Asp) c.150A>T (p.Glu50Asp) n.23A>T | gnomAD v4 |
12 | g.110914268T>C | CA481751030 | MYL2 | c.192A>G (p.Glu64=) c.135A>G (p.Glu45=) c.150A>G (p.Glu50=) n.23A>G | |
12 | g.110914268T>G | CA386698822 | MYL2 | c.192A>C (p.Glu64Asp) c.135A>C (p.Glu45Asp) c.150A>C (p.Glu50Asp) n.23A>C | |
12 | g.110914269T>A | CA386698823 | MYL2 | c.191A>T (p.Glu64Val) c.134A>T (p.Glu45Val) c.149A>T (p.Glu50Val) n.22A>T | |
12 | g.110914269T>C | CA386698824 | MYL2 | c.191A>G (p.Glu64Gly) c.134A>G (p.Glu45Gly) c.149A>G (p.Glu50Gly) n.22A>G | gnomAD v4 |
12 | g.110914269T>G | CA386698825 | MYL2 | c.191A>C (p.Glu64Ala) c.134A>C (p.Glu45Ala) c.149A>C (p.Glu50Ala) n.22A>C | |
12 | g.110914270C>A | CA386698828 | MYL2 | c.190G>T (p.Glu64Ter) c.133G>T (p.Glu45Ter) c.148G>T (p.Glu50Ter) n.21G>T | |
12 | g.110914270C>G | CA386698827 | MYL2 | c.190G>C (p.Glu64Gln) c.133G>C (p.Glu45Gln) c.148G>C (p.Glu50Gln) n.21G>C | |
12 | g.110914270C>T | CA386698826 | MYL2 | c.190G>A (p.Glu64Lys) c.133G>A (p.Glu45Lys) c.148G>A (p.Glu50Lys) n.21G>A | COSMIC |
12 | g.110914271A= | CA2063072685 | MYL2 | c.189T= (p.Asn63=) c.132T= (p.Asn44=) c.147T= (p.Asn49=) n.20T= | |
12 | g.110914271A>C | CA386698829 | MYL2 | c.189T>G (p.Asn63Lys) c.132T>G (p.Asn44Lys) c.147T>G (p.Asn49Lys) n.20T>G | |
12 | g.110914271A>G | CA481751031 | MYL2 | c.189T>C (p.Asn63=) c.132T>C (p.Asn44=) c.147T>C (p.Asn49=) n.20T>C | dbSNP gnomAD v4 |
12 | g.110914271A>T | CA386698830 | MYL2 | c.189T>A (p.Asn63Lys) c.132T>A (p.Asn44Lys) c.147T>A (p.Asn49Lys) n.20T>A | |
12 | g.110914271_110914272delinsAT | CA2063072682 | MYL2 | c.188_189delinsAT (p.Asn63=) c.131_132delinsAT (p.Asn44=) c.146_147delinsAT (p.Asn49=) n.19_20delinsAT | |
12 | g.110914272T>A | CA386698831 | MYL2 | c.188A>T (p.Asn63Ile) c.131A>T (p.Asn44Ile) c.146A>T (p.Asn49Ile) n.19A>T | |
12 | g.110914272T>C | CA386698832 | MYL2 | c.188A>G (p.Asn63Ser) c.131A>G (p.Asn44Ser) c.146A>G (p.Asn49Ser) n.19A>G | |
12 | g.110914272T>G | CA386698833 | MYL2 | c.188A>C (p.Asn63Thr) c.131A>C (p.Asn44Thr) c.146A>C (p.Asn49Thr) n.19A>C | |
12 | g.110914276del | CA607329961 | MYL2 | c.188del (p.Asn63MetfsTer7) c.131del (p.Asn44MetfsTer7) c.146del (p.Asn49MetfsTer7) n.19del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914273T>A | CA386698834 | MYL2 | c.187A>T (p.Asn63Tyr) c.130A>T (p.Asn44Tyr) c.145A>T (p.Asn49Tyr) n.18A>T | |
12 | g.110914273T>C | CA386698835 | MYL2 | c.187A>G (p.Asn63Asp) c.130A>G (p.Asn44Asp) c.145A>G (p.Asn49Asp) n.18A>G | |
12 | g.110914273T>G | CA386698836 | MYL2 | c.187A>C (p.Asn63His) c.130A>C (p.Asn44His) c.145A>C (p.Asn49His) n.18A>C | |
12 | g.110914274T>A | CA386698837 | MYL2 | c.186A>T (p.Lys62Asn) c.129A>T (p.Lys43Asn) c.144A>T (p.Lys48Asn) n.17A>T | |
12 | g.110914274T>C | CA481751032 | MYL2 | c.186A>G (p.Lys62=) c.129A>G (p.Lys43=) c.144A>G (p.Lys48=) n.17A>G | |
12 | g.110914274T>G | CA386698838 | MYL2 | c.186A>C (p.Lys62Asn) c.129A>C (p.Lys43Asn) c.144A>C (p.Lys48Asn) n.17A>C | |
12 | g.110914275T>A | CA386698839 | MYL2 | c.185A>T (p.Lys62Ile) c.128A>T (p.Lys43Ile) c.143A>T (p.Lys48Ile) n.16A>T | |
12 | g.110914275T>C | CA386698840 | MYL2 | c.185A>G (p.Lys62Arg) c.128A>G (p.Lys43Arg) c.143A>G (p.Lys48Arg) n.16A>G | |
12 | g.110914275T>G | CA386698841 | MYL2 | c.185A>C (p.Lys62Thr) c.128A>C (p.Lys43Thr) c.143A>C (p.Lys48Thr) n.16A>C | ClinVar dbSNP |
12 | g.110914275T= | CA2063072696 | MYL2 | c.185A= (p.Lys62=) c.128A= (p.Lys43=) c.143A= (p.Lys48=) n.16A= | |
12 | g.110914276T>A | CA009930 | MYL2 | c.184A>T (p.Lys62Ter) c.127A>T (p.Lys43Ter) c.142A>T (p.Lys48Ter) n.15A>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914276T>C | CA386698842 | MYL2 | c.184A>G (p.Lys62Glu) c.127A>G (p.Lys43Glu) c.142A>G (p.Lys48Glu) n.15A>G | |
12 | g.110914276T>G | CA386698843 | MYL2 | c.184A>C (p.Lys62Gln) c.127A>C (p.Lys43Gln) c.142A>C (p.Lys48Gln) n.15A>C | |
12 | g.110914276T= | CA2063072701 | MYL2 | c.184A= (p.Lys62=) c.127A= (p.Lys43=) c.142A= (p.Lys48=) n.15A= | |
12 | g.110914277C>A | CA481751033 | MYL2 | c.183G>T (p.Val61=) c.126G>T (p.Val42=) c.141G>T (p.Val47=) n.14G>T | |
12 | g.110914277C= | CA2063072713 | MYL2 | c.183G= (p.Val61=) c.126G= (p.Val42=) c.141G= (p.Val47=) n.14G= | |
12 | g.110914277C>G | CA481751034 | MYL2 | c.183G>C (p.Val61=) c.126G>C (p.Val42=) c.141G>C (p.Val47=) n.14G>C | |
12 | g.110914277C>T | CA243562275 | MYL2 | c.183G>A (p.Val61=) c.126G>A (p.Val42=) c.141G>A (p.Val47=) n.14G>A | ClinVar dbSNP gnomAD v4 COSMIC |
12 | g.110914278A>C | CA386698844 | MYL2 | c.182T>G (p.Val61Gly) c.125T>G (p.Val42Gly) c.140T>G (p.Val47Gly) n.13T>G | |
12 | g.110914278A>G | CA386698845 | MYL2 | c.182T>C (p.Val61Ala) c.125T>C (p.Val42Ala) c.140T>C (p.Val47Ala) n.13T>C | |
12 | g.110914278A>T | CA386698846 | MYL2 | c.182T>A (p.Val61Glu) c.125T>A (p.Val42Glu) c.140T>A (p.Val47Glu) n.13T>A | |
12 | g.110914279C>A | CA386698847 | MYL2 | c.181G>T (p.Val61Leu) c.124G>T (p.Val42Leu) c.139G>T (p.Val47Leu) n.12G>T | |
12 | g.110914279C= | CA2063072718 | MYL2 | c.181G= (p.Val61=) c.124G= (p.Val42=) c.139G= (p.Val47=) n.12G= | |
12 | g.110914279C>G | CA386698848 | MYL2 | c.181G>C (p.Val61Leu) c.124G>C (p.Val42Leu) c.139G>C (p.Val47Leu) n.12G>C | ClinVar dbSNP gnomAD v4 |
12 | g.110914279C>T | CA009922 | MYL2 | c.181G>A (p.Val61Met) c.124G>A (p.Val42Met) c.139G>A (p.Val47Met) n.12G>A | ClinVar dbSNP gnomAD v4 |
12 | g.110914280G>A | CA243562291 | MYL2 | c.180C>T (p.Asn60=) c.123C>T (p.Asn41=) c.138C>T (p.Asn46=) n.11C>T | ClinVar dbSNP gnomAD v4 |
12 | g.110914280G>C | CA386698849 | MYL2 | c.180C>G (p.Asn60Lys) c.123C>G (p.Asn41Lys) c.138C>G (p.Asn46Lys) n.11C>G | dbSNP gnomAD v3 gnomAD v4 COSMIC |
12 | g.110914280G= | CA2063072731 | MYL2 | c.180C= (p.Asn60=) c.123C= (p.Asn41=) c.138C= (p.Asn46=) n.11C= | |
12 | g.110914280G>T | CA386698850 | MYL2 | c.180C>A (p.Asn60Lys) c.123C>A (p.Asn41Lys) c.138C>A (p.Asn46Lys) n.11C>A | |
12 | g.110914281T>A | CA386698851 | MYL2 | c.179A>T (p.Asn60Ile) c.122A>T (p.Asn41Ile) c.137A>T (p.Asn46Ile) n.10A>T | COSMIC |
12 | g.110914281T>C | CA386698852 | MYL2 | c.179A>G (p.Asn60Ser) c.122A>G (p.Asn41Ser) c.137A>G (p.Asn46Ser) n.10A>G | COSMIC |
12 | g.110914281T>G | CA386698853 | MYL2 | c.179A>C (p.Asn60Thr) c.122A>C (p.Asn41Thr) c.137A>C (p.Asn46Thr) n.10A>C | |
12 | g.110914282T>A | CA386698856 | MYL2 | c.178A>T (p.Asn60Tyr) c.121A>T (p.Asn41Tyr) c.136A>T (p.Asn46Tyr) n.9A>T | |
12 | g.110914282T>C | CA386698855 | MYL2 | c.178A>G (p.Asn60Asp) c.121A>G (p.Asn41Asp) c.136A>G (p.Asn46Asp) n.9A>G | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914282T>G | CA386698854 | MYL2 | c.178A>C (p.Asn60His) c.121A>C (p.Asn41His) c.136A>C (p.Asn46His) n.9A>C | |
12 | g.110914282T= | CA2063072736 | MYL2 | c.178A= (p.Asn60=) c.121A= (p.Asn41=) c.136A= (p.Asn46=) n.9A= | |
12 | g.110914283C>A | CA481751036 | MYL2 | c.177G>T (p.Val59=) c.120G>T (p.Val40=) c.135G>T (p.Val45=) n.8G>T | |
12 | g.110914283C>G | CA481751037 | MYL2 | c.177G>C (p.Val59=) c.120G>C (p.Val40=) c.135G>C (p.Val45=) n.8G>C | |
12 | g.110914283C>T | CA481751038 | MYL2 | c.177G>A (p.Val59=) c.120G>A (p.Val40=) c.135G>A (p.Val45=) n.8G>A | gnomAD v4 |
12 | g.110914284A= | CA2063072742 | MYL2 | c.176T= (p.Val59=) c.119T= (p.Val40=) c.134T= (p.Val45=) n.7T= | |
12 | g.110914284A>C | CA386698857 | MYL2 | c.176T>G (p.Val59Gly) c.119T>G (p.Val40Gly) c.134T>G (p.Val45Gly) n.7T>G | |
12 | g.110914284A>G | CA386698859 | MYL2 | c.176T>C (p.Val59Ala) c.119T>C (p.Val40Ala) c.134T>C (p.Val45Ala) n.7T>C | ClinVar |
12 | g.110914284A>T | CA386698858 | MYL2 | c.176T>A (p.Val59Glu) c.119T>A (p.Val40Glu) c.134T>A (p.Val45Glu) n.7T>A | ClinVar dbSNP |
12 | g.110914285C>A | CA386698860 | MYL2 | c.175G>T (p.Val59Leu) c.118G>T (p.Val40Leu) c.133G>T (p.Val45Leu) n.6G>T | |
12 | g.110914285C= | CA2063072749 | MYL2 | c.175G= (p.Val59=) c.118G= (p.Val40=) c.133G= (p.Val45=) n.6G= | |
12 | g.110914285C>G | CA386698861 | MYL2 | c.175G>C (p.Val59Leu) c.118G>C (p.Val40Leu) c.133G>C (p.Val45Leu) n.6G>C | |
12 | g.110914285C>T | CA386698862 | MYL2 | c.175G>A (p.Val59Met) c.118G>A (p.Val40Met) c.133G>A (p.Val45Met) n.6G>A | ClinVar dbSNP |
12 | g.110914286T>A | CA481751039 | MYL2 | c.174A>T (p.Arg58=) c.117A>T (p.Arg39=) c.132A>T (p.Arg44=) n.5A>T | |
12 | g.110914286T>C | CA040687 | MYL2 | c.174A>G (p.Arg58=) c.117A>G (p.Arg39=) c.132A>G (p.Arg44=) n.5A>G | ClinVar dbSNP ExAC gnomAD v4 |
12 | g.110914286T>G | CA481751040 | MYL2 | c.174A>C (p.Arg58=) c.117A>C (p.Arg39=) c.132A>C (p.Arg44=) n.5A>C | |
12 | g.110914286T= | CA2063072755 | MYL2 | c.174A= (p.Arg58=) c.117A= (p.Arg39=) c.132A= (p.Arg44=) n.5A= | |
12 | g.110914287C>A | CA386698863 | MYL2 | c.173G>T (p.Arg58Leu) c.116G>T (p.Arg39Leu) c.131G>T (p.Arg44Leu) n.4G>T | ClinVar dbSNP |
12 | g.110914287C= | CA2063072761 | MYL2 | c.173G= (p.Arg58=) c.116G= (p.Arg39=) c.131G= (p.Arg44=) n.4G= | |
12 | g.110914287C>G | CA386698864 | MYL2 | c.173G>C (p.Arg58Pro) c.116G>C (p.Arg39Pro) c.131G>C (p.Arg44Pro) n.4G>C | |
12 | g.110914287C>T | CA009915 | MYL2 | c.173G>A (p.Arg58Gln) c.116G>A (p.Arg39Gln) c.131G>A (p.Arg44Gln) n.4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914287_110914288insCT | CA243562312 | MYL2 | c.172_173insAG (p.Arg58GlnfsTer3) c.115_116insAG (p.Arg39GlnfsTer3) c.130_131insAG (p.Arg44GlnfsTer3) n.3_4insAG | dbSNP |
12 | g.110914288G>A | CA040649 | MYL2 | c.172C>T (p.Arg58Ter) c.115C>T (p.Arg39Ter) c.130C>T (p.Arg44Ter) n.3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914288G>C | CA386698865 | MYL2 | c.172C>G (p.Arg58Gly) c.115C>G (p.Arg39Gly) c.130C>G (p.Arg44Gly) n.3C>G | ClinVar |
12 | g.110914288G= | CA2063072779 | MYL2 | c.172C= (p.Arg58=) c.115C= (p.Arg39=) c.130C= (p.Arg44=) n.3C= | |
12 | g.110914288G>T | CA040633 | MYL2 | c.172C>A (p.Arg58=) c.115C>A (p.Arg39=) c.130C>A (p.Arg44=) n.3C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
12 | g.110914289C>A | CA481751041 | MYL2 | c.171G>T (p.Gly57=) c.114G>T (p.Gly38=) c.129G>T (p.Gly43=) n.2G>T | |
12 | g.110914289C= | CA2063072788 | MYL2 | c.171G= (p.Gly57=) c.114G= (p.Gly38=) c.129G= (p.Gly43=) n.2G= | |
12 | g.110914289C>G | CA481751042 | MYL2 | c.171G>C (p.Gly57=) c.114G>C (p.Gly38=) c.129G>C (p.Gly43=) n.2G>C | |
12 | g.110914289C>T | CA481751043 | MYL2 | c.171G>A (p.Gly57=) c.114G>A (p.Gly38=) c.129G>A (p.Gly43=) n.2G>A | dbSNP |
12 | g.110914290C>A | CA386698867 | MYL2 | c.170G>T (p.Gly57Val) c.113G>T (p.Gly38Val) c.128G>T (p.Gly43Val) n.1G>T | |
12 | g.110914290C= | CA2063072796 | MYL2 | c.170G= (p.Gly57=) c.113G= (p.Gly38=) c.128G= (p.Gly43=) n.1G= | |
12 | g.110914290C>G | CA386698866 | MYL2 | c.170G>C (p.Gly57Ala) c.113G>C (p.Gly38Ala) c.128G>C (p.Gly43Ala) n.1G>C | |
12 | g.110914290C>T | CA009910 | MYL2 | c.170G>A (p.Gly57Glu) c.113G>A (p.Gly38Glu) c.128G>A (p.Gly43Glu) n.1G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914291C>A | CA386698868 | MYL2 | c.170-1G>T (n.170-1G>T) c.113-1G>T (n.113-1G>T) c.127G>T (p.Gly43Trp) | COSMIC |
12 | g.110914291C= | CA2063072802 | MYL2 | c.170-1G= (n.170-1G=) c.113-1G= (n.113-1G=) c.127G= (p.Gly43=) | |
12 | g.110914291C>G | CA386698869 | MYL2 | c.170-1G>C (n.170-1G>C) c.113-1G>C (n.113-1G>C) c.127G>C (p.Gly43Arg) | |
12 | g.110914291C>T | CA386698870 | MYL2 | c.170-1G>A (n.170-1G>A) c.113-1G>A (n.113-1G>A) c.127G>A (p.Gly43Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914292T>A | CA243562322 | MYL2 | c.170-2A>T (n.170-2A>T) c.113-2A>T (n.113-2A>T) c.126A>T (p.Leu42=) | dbSNP gnomAD v4 |
12 | g.110914292T>C | CA386698871 | MYL2 | c.170-2A>G (n.170-2A>G) c.113-2A>G (n.113-2A>G) c.126A>G (p.Leu42=) | |
12 | g.110914292T>G | CA386698872 | MYL2 | c.170-2A>C (n.170-2A>C) c.113-2A>C (n.113-2A>C) c.126A>C (p.Leu42=) | dbSNP |
12 | g.110914292T= | CA2063072808 | MYL2 | c.170-2A= (n.170-2A=) c.113-2A= (n.113-2A=) c.126A= (p.Leu42=) | |
12 | g.110914296_110914300dup | CA6788120 | MYL2 | c.170-6_170-2dup (n.170-6_170-2dup) c.113-6_113-2dup (n.113-6_113-2dup) c.122_126dup (p.Gly43ProfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914293A>C | CA386698873 | MYL2 | c.170-3T>G (n.170-3T>G) c.113-3T>G (n.113-3T>G) c.125T>G (p.Leu42Arg) | |
12 | g.110914293A>G | CA386698874 | MYL2 | c.170-3T>C (n.170-3T>C) c.113-3T>C (n.113-3T>C) c.125T>C (p.Leu42Pro) | ClinVar |
12 | g.110914293A>T | CA386698875 | MYL2 | c.170-3T>A (n.170-3T>A) c.113-3T>A (n.113-3T>A) c.125T>A (p.Leu42Gln) | |
12 | g.110914293_110914294delinsAG | CA2063072812 | MYL2 | c.170-4_170-3delinsCT (n.170-4_170-3delinsCT) c.113-4_113-3delinsCT (n.113-4_113-3delinsCT) c.124_125delinsCT (p.Leu42=) | |
12 | g.110914294G>A | CA683557020 | MYL2 | c.170-4C>T (n.170-4C>T) c.113-4C>T (n.113-4C>T) c.124C>T (p.Leu42=) | ClinVar dbSNP |
12 | g.110914294G>C | CA243562324 | MYL2 | c.170-4C>G (n.170-4C>G) c.113-4C>G (n.113-4C>G) c.124C>G (p.Leu42Val) | dbSNP gnomAD v4 |
12 | g.110914294G= | CA2063072814 | MYL2 | c.170-4C= (n.170-4C=) c.113-4C= (n.113-4C=) c.124C= (p.Leu42=) | |
12 | g.110914294G>T | CA386698876 | MYL2 | c.170-4C>A (n.170-4C>A) c.113-4C>A (n.113-4C>A) c.124C>A (p.Leu42Ile) | |
12 | g.110914296del | CA243562323 | MYL2 | c.170-4del (n.170-4del) c.113-4del (n.113-4del) c.124del (p.Leu42Ter) | dbSNP |
12 | g.110914296G>A | CA386698879 | MYL2 | c.170-6C>T (n.170-6C>T) c.113-6C>T (n.113-6C>T) c.122C>T (p.Thr41Ile) | |
12 | g.110914296G>C | CA386698878 | MYL2 | c.170-6C>G (n.170-6C>G) c.113-6C>G (n.113-6C>G) c.122C>G (p.Thr41Ser) | |
12 | g.110914296G>T | CA386698877 | MYL2 | c.170-6C>A (n.170-6C>A) c.113-6C>A (n.113-6C>A) c.122C>A (p.Thr41Asn) | gnomAD v4 |
12 | g.110914296_110914297insCAGCAAAGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGA | CA2797450849 | MYL2 | c.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG (n.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG) c.113-7_113-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG (n.113-7_113-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG) c.121_122insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG (p.Thr41delinsIleMetAspGlnAsnArgAspGlyPheIleAspLysAsnAspLeuArgAspThrPheAlaAla) | |
12 | g.110914297T>A | CA386698880 | MYL2 | c.170-7A>T (n.170-7A>T) c.113-7A>T (n.113-7A>T) c.121A>T (p.Thr41Ser) | |
12 | g.110914297T>C | CA040607 | MYL2 | c.170-7A>G (n.170-7A>G) c.113-7A>G (n.113-7A>G) c.121A>G (p.Thr41Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914297T>G | CA386698881 | MYL2 | c.170-7A>C (n.170-7A>C) c.113-7A>C (n.113-7A>C) c.121A>C (p.Thr41Pro) | |
12 | g.110914297T= | CA2063072818 | MYL2 | c.170-7A= (n.170-7A=) c.113-7A= (n.113-7A=) c.121A= (p.Thr41=) | |
12 | g.110914298A>G | CA2620917266 | MYL2 | c.170-8T>C (n.170-8T>C) c.113-8T>C (n.113-8T>C) c.120T>C (p.Pro40=) | gnomAD v4 |
12 | g.110914299G>A | CA386698882 | MYL2 | c.170-9C>T (n.170-9C>T) c.113-9C>T (n.113-9C>T) c.119C>T (p.Pro40Leu) | |
12 | g.110914299G>C | CA386698883 | MYL2 | c.170-9C>G (n.170-9C>G) c.113-9C>G (n.113-9C>G) c.119C>G (p.Pro40Arg) | |
12 | g.110914299G>T | CA386698884 | MYL2 | c.170-9C>A (n.170-9C>A) c.113-9C>A (n.113-9C>A) c.119C>A (p.Pro40His) | |
12 | g.110914299_110914300insTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTTC | CA2797450852 | MYL2 | c.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA (n.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA) c.113-10_113-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA (n.113-10_113-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA) c.118_119insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA (p.Pro40ArgfsTer9) | |
12 | g.110914300G>A | CA386698887 | MYL2 | c.170-10C>T (n.170-10C>T) c.113-10C>T (n.113-10C>T) c.118C>T (p.Pro40Ser) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914300G>C | CA386698885 | MYL2 | c.170-10C>G (n.170-10C>G) c.113-10C>G (n.113-10C>G) c.118C>G (p.Pro40Ala) | gnomAD v4 |
12 | g.110914300G= | CA2063072824 | MYL2 | c.170-10C= (n.170-10C=) c.113-10C= (n.113-10C=) c.118C= (p.Pro40=) | |
12 | g.110914300G>T | CA386698886 | MYL2 | c.170-10C>A (n.170-10C>A) c.113-10C>A (n.113-10C>A) c.118C>A (p.Pro40Thr) | |
12 | g.110914301A>C | CA386698888 | MYL2 | c.170-11T>G (n.170-11T>G) c.113-11T>G (n.113-11T>G) c.117T>G (p.Phe39Leu) | |
12 | g.110914301A>T | CA386698889 | MYL2 | c.170-11T>A (n.170-11T>A) c.113-11T>A (n.113-11T>A) c.117T>A (p.Phe39Leu) | |
12 | g.110914302A>C | CA386698890 | MYL2 | c.170-12T>G (n.170-12T>G) c.113-12T>G (n.113-12T>G) c.116T>G (p.Phe39Cys) | |
12 | g.110914302A>G | CA386698891 | MYL2 | c.170-12T>C (n.170-12T>C) c.113-12T>C (n.113-12T>C) c.116T>C (p.Phe39Ser) | |
12 | g.110914302A>T | CA386698892 | MYL2 | c.170-12T>A (n.170-12T>A) c.113-12T>A (n.113-12T>A) c.116T>A (p.Phe39Tyr) | |
12 | g.110914302_110914304delinsAAC | CA2063072827 | MYL2 | c.170-14_170-12delinsGTT (n.170-14_170-12delinsGTT) c.113-14_113-12delinsGTT (n.113-14_113-12delinsGTT) c.114_116delinsGTT (p.Val38=) | |
12 | g.110914303A>C | CA386698893 | MYL2 | c.170-13T>G (n.170-13T>G) c.113-13T>G (n.113-13T>G) c.115T>G (p.Phe39Val) | |
12 | g.110914303A>G | CA386698895 | MYL2 | c.170-13T>C (n.170-13T>C) c.113-13T>C (n.113-13T>C) c.115T>C (p.Phe39Leu) | |
12 | g.110914303A>T | CA386698894 | MYL2 | c.170-13T>A (n.170-13T>A) c.113-13T>A (n.113-13T>A) c.115T>A (p.Phe39Ile) | |
12 | g.110914309_110914310del | CA040311 | MYL2 | c.170-14_170-13del (n.170-14_170-13del) c.113-14_113-13del (n.113-14_113-13del) c.114_115del (p.Phe39SerfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914303_110914304insGGTGTCTCTCAGATCGTTCTTGTCAATGAAGC | CA2620917267 | MYL2 | c.170-14_170-13insGCTTCATTGACAAGAACGATCTGAGAGACACC (n.170-14_170-13insGCTTCATTGACAAGAACGATCTGAGAGACACC) c.113-14_113-13insGCTTCATTGACAAGAACGATCTGAGAGACACC (n.113-14_113-13insGCTTCATTGACAAGAACGATCTGAGAGACACC) c.114_115insGCTTCATTGACAAGAACGATCTGAGAGACACC (p.Phe39AlafsTer8) | gnomAD v4 |
12 | g.110914303_110914304insGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATC | CA2797450854 | MYL2 | c.170-14_170-13insGATGGCTTCATTGACAAGAACGATCTGAGAGACACC (n.170-14_170-13insGATGGCTTCATTGACAAGAACGATCTGAGAGACACC) c.113-14_113-13insGATGGCTTCATTGACAAGAACGATCTGAGAGACACC (n.113-14_113-13insGATGGCTTCATTGACAAGAACGATCTGAGAGACACC) c.114_115insGATGGCTTCATTGACAAGAACGATCTGAGAGACACC (p.Val38_Phe39insAspGlyPheIleAspLysAsnAspLeuArgAspThr) | |
12 | g.110914303_110914304insGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGATAGTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTT | CA2797450855 | MYL2 | c.170-14_170-13insAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACC (n.170-14_170-13insAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACC) c.113-14_113-13insAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACC (n.113-14_113-13insAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACC) c.114_115insAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCACTATCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACC (p.Phe39AsnfsTer28) | |
12 | g.110914304C= | CA2063072837 | MYL2 | c.170-14G= (n.170-14G=) c.113-14G= (n.113-14G=) c.114G= (p.Val38=) | |
12 | g.110914304C>G | CA040335 | MYL2 | c.170-14G>C (n.170-14G>C) c.113-14G>C (n.113-14G>C) c.114G>C (p.Val38=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914304C>T | CA040328 | MYL2 | c.170-14G>A (n.170-14G>A) c.113-14G>A (n.113-14G>A) c.114G>A (p.Val38=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914305A>C | CA386698896 | MYL2 | c.170-15T>G (n.170-15T>G) c.113-15T>G (n.113-15T>G) c.113T>G (p.Val38Gly) | |
12 | g.110914305A>G | CA386698897 | MYL2 | c.170-15T>C (n.170-15T>C) c.113-15T>C (n.113-15T>C) c.113T>C (p.Val38Ala) | |
12 | g.110914305A>T | CA386698898 | MYL2 | c.170-15T>A (n.170-15T>A) c.113-15T>A (n.113-15T>A) c.113T>A (p.Val38Glu) | |
12 | g.110914306C>A | CA386698899 | MYL2 | c.170-16G>T (n.170-16G>T) c.113-16G>T (n.113-16G>T) c.112G>T (p.Val38Leu) | |
12 | g.110914306C= | CA2063072861 | MYL2 | c.170-16G= (n.170-16G=) c.113-16G= (n.113-16G=) c.112G= (p.Val38=) | |
12 | g.110914306C>G | CA386698900 | MYL2 | c.170-16G>C (n.170-16G>C) c.113-16G>C (n.113-16G>C) c.112G>C (p.Val38Leu) | |
12 | g.110914306C>T | CA040360 | MYL2 | c.170-16G>A (n.170-16G>A) c.113-16G>A (n.113-16G>A) c.112G>A (p.Val38Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914307A= | CA2063072867 | MYL2 | c.170-17T= (n.170-17T=) c.113-17T= (n.113-17T=) c.111T= (p.Cys37=) | |
12 | g.110914307A>C | CA386698901 | MYL2 | c.170-17T>G (n.170-17T>G) c.113-17T>G (n.113-17T>G) c.111T>G (p.Cys37Trp) | |
12 | g.110914307A>G | CA683557051 | MYL2 | c.170-17T>C (n.170-17T>C) c.113-17T>C (n.113-17T>C) c.111T>C (p.Cys37=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914307A>T | CA386698902 | MYL2 | c.170-17T>A (n.170-17T>A) c.113-17T>A (n.113-17T>A) c.111T>A (p.Cys37Ter) | |
12 | g.110914307_110914308insAATGTGAATACTTCCCTGTAGAATTGTG | CA607329969 | MYL2 | c.170-18_170-17insCACAATTCTACAGGGAAGTATTCACATT (n.170-18_170-17insCACAATTCTACAGGGAAGTATTCACATT) c.113-18_113-17insCACAATTCTACAGGGAAGTATTCACATT (n.113-18_113-17insCACAATTCTACAGGGAAGTATTCACATT) c.110_111insCACAATTCTACAGGGAAGTATTCACATT (p.Val38ThrfsTer22) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110914307_110914308insAATGTGAATACTTCCCTGTAGAATTGTGCAGTG | CA040379 | MYL2 | c.170-18_170-17insCACTGCACAATTCTACAGGGAAGTATTCACATT (n.170-18_170-17insCACTGCACAATTCTACAGGGAAGTATTCACATT) c.113-18_113-17insCACTGCACAATTCTACAGGGAAGTATTCACATT (n.113-18_113-17insCACTGCACAATTCTACAGGGAAGTATTCACATT) c.110_111insCACTGCACAATTCTACAGGGAAGTATTCACATT (p.Cys37_Val38insThrAlaGlnPheTyrArgGluValPheThrPhe) | dbSNP ExAC |
12 | g.110914308C>A | CA386698905 | MYL2 | c.170-18G>T (n.170-18G>T) c.113-18G>T (n.113-18G>T) c.110G>T (p.Cys37Phe) | |
12 | g.110914308C>G | CA386698904 | MYL2 | c.170-18G>C (n.170-18G>C) c.113-18G>C (n.113-18G>C) c.110G>C (p.Cys37Ser) | |
12 | g.110914308C>T | CA386698903 | MYL2 | c.170-18G>A (n.170-18G>A) c.113-18G>A (n.113-18G>A) c.110G>A (p.Cys37Tyr) | gnomAD v4 |
12 | g.110914309A= | CA2063072877 | MYL2 | c.170-19T= (n.170-19T=) c.113-19T= (n.113-19T=) c.109T= (p.Cys37=) | |
12 | g.110914309A>C | CA386698906 | MYL2 | c.170-19T>G (n.170-19T>G) c.113-19T>G (n.113-19T>G) c.109T>G (p.Cys37Gly) | |
12 | g.110914309A>G | CA009904 | MYL2 | c.170-19T>C (n.170-19T>C) c.113-19T>C (n.113-19T>C) c.109T>C (p.Cys37Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914309A>T | CA386698908 | MYL2 | c.170-19T>A (n.170-19T>A) c.113-19T>A (n.113-19T>A) c.109T>A (p.Cys37Ser) | |
12 | g.110914309_110914310insGTGCGCAGT | CA607329970 | MYL2 | c.170-20_170-19insACTGCGCAC (n.170-20_170-19insACTGCGCAC) c.113-20_113-19insACTGCGCAC (n.113-20_113-19insACTGCGCAC) c.108_109insACTGCGCAC (p.Glu36_Cys37insThrAlaHis) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110914310C>A | CA386698912 | MYL2 | c.170-20G>T (n.170-20G>T) c.113-20G>T (n.113-20G>T) c.108G>T (p.Glu36Asp) | gnomAD v4 |
12 | g.110914310C= | CA2063072890 | MYL2 | c.170-20G= (n.170-20G=) c.113-20G= (n.113-20G=) c.108G= (p.Glu36=) | |
12 | g.110914310C>G | CA386698914 | MYL2 | c.170-20G>C (n.170-20G>C) c.113-20G>C (n.113-20G>C) c.108G>C (p.Glu36Asp) | |
12 | g.110914310C>T | CA2063072887 | MYL2 | c.170-20G>A (n.170-20G>A) c.113-20G>A (n.113-20G>A) c.108G>A (p.Glu36=) | ClinVar dbSNP gnomAD v4 |
12 | g.110914311T>A | CA386698918 | MYL2 | c.170-21A>T (n.170-21A>T) c.113-21A>T (n.113-21A>T) c.107A>T (p.Glu36Val) | |
12 | g.110914311T>C | CA386698922 | MYL2 | c.170-21A>G (n.170-21A>G) c.113-21A>G (n.113-21A>G) c.107A>G (p.Glu36Gly) | |
12 | g.110914311T>G | CA386698919 | MYL2 | c.170-21A>C (n.170-21A>C) c.113-21A>C (n.113-21A>C) c.107A>C (p.Glu36Ala) | |
12 | g.110914312C>A | CA386698926 | MYL2 | c.170-22G>T (n.170-22G>T) c.113-22G>T (n.113-22G>T) c.106G>T (p.Glu36Ter) | |
12 | g.110914312C>G | CA386698931 | MYL2 | c.170-22G>C (n.170-22G>C) c.113-22G>C (n.113-22G>C) c.106G>C (p.Glu36Gln) | |
12 | g.110914312C>T | CA386698928 | MYL2 | c.170-22G>A (n.170-22G>A) c.113-22G>A (n.113-22G>A) c.106G>A (p.Glu36Lys) | gnomAD v4 |
12 | g.110914313A>G | CA2620917268 | MYL2 | c.170-23T>C (n.170-23T>C) c.113-23T>C (n.113-23T>C) c.105T>C (p.Pro35=) | gnomAD v4 |
12 | g.110914314G>A | CA386698934 | MYL2 | c.170-24C>T (n.170-24C>T) c.113-24C>T (n.113-24C>T) c.104C>T (p.Pro35Leu) | |
12 | g.110914314G>C | CA386698936 | MYL2 | c.170-24C>G (n.170-24C>G) c.113-24C>G (n.113-24C>G) c.104C>G (p.Pro35Arg) | |
12 | g.110914314G>T | CA386698939 | MYL2 | c.170-24C>A (n.170-24C>A) c.113-24C>A (n.113-24C>A) c.104C>A (p.Pro35His) | |
12 | g.110914315G>A | CA040397 | MYL2 | c.170-25C>T (n.170-25C>T) c.113-25C>T (n.113-25C>T) c.103C>T (p.Pro35Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914315G>C | CA386698942 | MYL2 | c.170-25C>G (n.170-25C>G) c.113-25C>G (n.113-25C>G) c.103C>G (p.Pro35Ala) | |
12 | g.110914315G= | CA2063072891 | MYL2 | c.170-25C= (n.170-25C=) c.113-25C= (n.113-25C=) c.103C= (p.Pro35=) | |
12 | g.110914315G>T | CA386698944 | MYL2 | c.170-25C>A (n.170-25C>A) c.113-25C>A (n.113-25C>A) c.103C>A (p.Pro35Thr) | |
12 | g.110914316G>A | CA607329971 | MYL2 | c.170-26C>T (n.170-26C>T) c.113-26C>T (n.113-26C>T) c.102C>T (p.Val34=) | dbSNP gnomAD v2 |
12 | g.110914316G= | CA2063072897 | MYL2 | c.170-26C= (n.170-26C=) c.113-26C= (n.113-26C=) c.102C= (p.Val34=) | |
12 | g.110914317A>C | CA386698948 | MYL2 | c.170-27T>G (n.170-27T>G) c.113-27T>G (n.113-27T>G) c.101T>G (p.Val34Gly) | |
12 | g.110914317A>G | CA386698950 | MYL2 | c.170-27T>C (n.170-27T>C) c.113-27T>C (n.113-27T>C) c.101T>C (p.Val34Ala) | |
12 | g.110914317A>T | CA386698953 | MYL2 | c.170-27T>A (n.170-27T>A) c.113-27T>A (n.113-27T>A) c.101T>A (p.Val34Asp) | |
12 | g.110914318C>A | CA386698955 | MYL2 | c.170-28G>T (n.170-28G>T) c.113-28G>T (n.113-28G>T) c.100G>T (p.Val34Phe) | |
12 | g.110914318C>G | CA386698958 | MYL2 | c.170-28G>C (n.170-28G>C) c.113-28G>C (n.113-28G>C) c.100G>C (p.Val34Leu) | |
12 | g.110914318C>T | CA386698960 | MYL2 | c.170-28G>A (n.170-28G>A) c.113-28G>A (n.113-28G>A) c.100G>A (p.Val34Ile) | |
12 | g.110914319T>C | CA2575293038 | MYL2 | c.170-29A>G (n.170-29A>G) c.113-29A>G (n.113-29A>G) c.99A>G (p.Gly33=) | gnomAD v4 |
12 | g.110914320C>A | CA386698966 | MYL2 | c.170-30G>T (n.170-30G>T) c.113-30G>T (n.113-30G>T) c.98G>T (p.Gly33Val) | |
12 | g.110914320C>G | CA386698963 | MYL2 | c.170-30G>C (n.170-30G>C) c.113-30G>C (n.113-30G>C) c.98G>C (p.Gly33Ala) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914320C>T | CA386698964 | MYL2 | c.170-30G>A (n.170-30G>A) c.113-30G>A (n.113-30G>A) c.98G>A (p.Gly33Glu) | |
12 | g.110914321C>A | CA386698969 | MYL2 | c.170-31G>T (n.170-31G>T) c.113-31G>T (n.113-31G>T) c.97G>T (p.Gly33Ter) | |
12 | g.110914321C= | CA2063072901 | MYL2 | c.170-31G= (n.170-31G=) c.113-31G= (n.113-31G=) c.97G= (p.Gly33=) | |
12 | g.110914321C>G | CA386698971 | MYL2 | c.170-31G>C (n.170-31G>C) c.113-31G>C (n.113-31G>C) c.97G>C (p.Gly33Arg) | |
12 | g.110914321C>T | CA040407 | MYL2 | c.170-31G>A (n.170-31G>A) c.113-31G>A (n.113-31G>A) c.97G>A (p.Gly33Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.110914322G>A | CA040423 | MYL2 | c.170-32C>T (n.170-32C>T) c.113-32C>T (n.113-32C>T) c.96C>T (p.Leu32=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914322G>C | CA2063072908 | MYL2 | c.170-32C>G (n.170-32C>G) c.113-32C>G (n.113-32C>G) c.96C>G (p.Leu32=) | dbSNP |
12 | g.110914322G= | CA2063072905 | MYL2 | c.170-32C= (n.170-32C=) c.113-32C= (n.113-32C=) c.96C= (p.Leu32=) | |
12 | g.110914322G>T | CA2575293039 | MYL2 | c.170-32C>A (n.170-32C>A) c.113-32C>A (n.113-32C>A) c.96C>A (p.Leu32=) | gnomAD v4 |
12 | g.110914323A>C | CA386698977 | MYL2 | c.170-33T>G (n.170-33T>G) c.113-33T>G (n.113-33T>G) c.95T>G (p.Leu32Arg) | |
12 | g.110914323A>G | CA386698980 | MYL2 | c.170-33T>C (n.170-33T>C) c.113-33T>C (n.113-33T>C) c.95T>C (p.Leu32Pro) | |
12 | g.110914323A>T | CA386698982 | MYL2 | c.170-33T>A (n.170-33T>A) c.113-33T>A (n.113-33T>A) c.95T>A (p.Leu32His) | gnomAD v4 |
12 | g.110914324G>A | CA386698984 | MYL2 | c.170-34C>T (n.170-34C>T) c.113-34C>T (n.113-34C>T) c.94C>T (p.Leu32Phe) | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914324G>C | CA386698986 | MYL2 | c.170-34C>G (n.170-34C>G) c.113-34C>G (n.113-34C>G) c.94C>G (p.Leu32Val) | |
12 | g.110914324G= | CA2063072914 | MYL2 | c.170-34C= (n.170-34C=) c.113-34C= (n.113-34C=) c.94C= (p.Leu32=) | |
12 | g.110914324G>T | CA386698988 | MYL2 | c.170-34C>A (n.170-34C>A) c.113-34C>A (n.113-34C>A) c.94C>A (p.Leu32Ile) | gnomAD v4 |