Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.110914200_110914204delinsCCAAACA2063072393MYL2c.256_260delinsTTTGG (p.Phe86=)
c.199_203delinsTTTGG (p.Phe67=)
c.214_218delinsTTTGG (p.Phe72=)
n.87_91delinsTTTGG
12g.110914201C>ACA386698669MYL2c.259G>T (p.Gly87Trp)
c.202G>T (p.Gly68Trp)
c.217G>T (p.Gly73Trp)
n.90G>T
COSMIC
12g.110914201C>GCA386698670MYL2c.259G>C (p.Gly87Arg)
c.202G>C (p.Gly68Arg)
c.217G>C (p.Gly73Arg)
n.90G>C
ClinVar
12g.110914201C>TCA386698671MYL2c.259G>A (p.Gly87Arg)
c.202G>A (p.Gly68Arg)
c.217G>A (p.Gly73Arg)
n.90G>A
ClinVar dbSNP
12g.110914203_110914206delCA951840368MYL2c.256_259del (p.Phe86GlyfsTer28)
c.199_202del (p.Phe67GlyfsTer28)
c.214_217del (p.Phe72GlyfsTer28)
n.87_90del
dbSNP gnomAD v3 gnomAD v4
12g.110914202A>CCA386698672MYL2c.258T>G (p.Phe86Leu)
c.201T>G (p.Phe67Leu)
c.216T>G (p.Phe72Leu)
n.89T>G
12g.110914202A>GCA481750998MYL2c.258T>C (p.Phe86=)
c.201T>C (p.Phe67=)
c.216T>C (p.Phe72=)
n.89T>C
12g.110914202A>TCA386698673MYL2c.258T>A (p.Phe86Leu)
c.201T>A (p.Phe67Leu)
c.216T>A (p.Phe72Leu)
n.89T>A
12g.110914203A=CA2063072403MYL2c.257T= (p.Phe86=)
c.200T= (p.Phe67=)
c.215T= (p.Phe72=)
n.88T=
12g.110914203A>CCA386698674MYL2c.257T>G (p.Phe86Cys)
c.200T>G (p.Phe67Cys)
c.215T>G (p.Phe72Cys)
n.88T>G
12g.110914203A>GCA009962MYL2c.257T>C (p.Phe86Ser)
c.200T>C (p.Phe67Ser)
c.215T>C (p.Phe72Ser)
n.88T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.110914203A>TCA386698675MYL2c.257T>A (p.Phe86Tyr)
c.200T>A (p.Phe67Tyr)
c.215T>A (p.Phe72Tyr)
n.88T>A
12g.110914204A=CA2063072410MYL2c.256T= (p.Phe86=)
c.199T= (p.Phe67=)
c.214T= (p.Phe72=)
n.87T=
12g.110914204A>CCA386698676MYL2c.256T>G (p.Phe86Val)
c.199T>G (p.Phe67Val)
c.214T>G (p.Phe72Val)
n.87T>G
12g.110914204A>GCA040901MYL2c.256T>C (p.Phe86Leu)
c.199T>C (p.Phe67Leu)
c.214T>C (p.Phe72Leu)
n.87T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.110914204A>TCA386698677MYL2c.256T>A (p.Phe86Ile)
c.199T>A (p.Phe67Ile)
c.214T>A (p.Phe72Ile)
n.87T>A
12g.110914205C>ACA386698679MYL2c.255G>T (p.Met85Ile)
c.198G>T (p.Met66Ile)
c.213G>T (p.Met71Ile)
n.86G>T
12g.110914205C=CA2063072419MYL2c.255G= (p.Met85=)
c.198G= (p.Met66=)
c.213G= (p.Met71=)
n.86G=
12g.110914205C>GCA386698680MYL2c.255G>C (p.Met85Ile)
c.198G>C (p.Met66Ile)
c.213G>C (p.Met71Ile)
n.86G>C
12g.110914205C>TCA386698678MYL2c.255G>A (p.Met85Ile)
c.198G>A (p.Met66Ile)
c.213G>A (p.Met71Ile)
n.86G>A
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.110914206A=CA2063072430MYL2c.254T= (p.Met85=)
c.197T= (p.Met66=)
c.212T= (p.Met71=)
n.85T=
12g.110914206A>CCA386698682MYL2c.254T>G (p.Met85Arg)
c.197T>G (p.Met66Arg)
c.212T>G (p.Met71Arg)
n.85T>G
12g.110914206A>GCA386698681MYL2c.254T>C (p.Met85Thr)
c.197T>C (p.Met66Thr)
c.212T>C (p.Met71Thr)
n.85T>C
ClinVar dbSNP gnomAD v4
12g.110914206A>TCA386698683MYL2c.254T>A (p.Met85Lys)
c.197T>A (p.Met66Lys)
c.212T>A (p.Met71Lys)
n.85T>A
12g.110914207T>ACA386698684MYL2c.253A>T (p.Met85Leu)
c.196A>T (p.Met66Leu)
c.211A>T (p.Met71Leu)
n.84A>T
12g.110914207T>CCA386698686MYL2c.253A>G (p.Met85Val)
c.196A>G (p.Met66Val)
c.211A>G (p.Met71Val)
n.84A>G
ClinVar dbSNP
12g.110914207T>GCA386698685MYL2c.253A>C (p.Met85Leu)
c.196A>C (p.Met66Leu)
c.211A>C (p.Met71Leu)
n.84A>C
12g.110914207T=CA2063072436MYL2c.253A= (p.Met85=)
c.196A= (p.Met66=)
c.211A= (p.Met71=)
n.84A=
12g.110914208T>ACA481751001MYL2c.252A>T (p.Thr84=)
c.195A>T (p.Thr65=)
c.210A>T (p.Thr70=)
n.83A>T
12g.110914208T>CCA481751000MYL2c.252A>G (p.Thr84=)
c.195A>G (p.Thr65=)
c.210A>G (p.Thr70=)
n.83A>G
12g.110914208T>GCA481750999MYL2c.252A>C (p.Thr84=)
c.195A>C (p.Thr65=)
c.210A>C (p.Thr70=)
n.83A>C
dbSNP
12g.110914208T=CA2063072443MYL2c.252A= (p.Thr84=)
c.195A= (p.Thr65=)
c.210A= (p.Thr70=)
n.83A=
12g.110914209G>ACA386698687MYL2c.251C>T (p.Thr84Ile)
c.194C>T (p.Thr65Ile)
c.209C>T (p.Thr70Ile)
n.82C>T
12g.110914209G>CCA386698688MYL2c.251C>G (p.Thr84Arg)
c.194C>G (p.Thr65Arg)
c.209C>G (p.Thr70Arg)
n.82C>G
12g.110914209G>TCA386698689MYL2c.251C>A (p.Thr84Lys)
c.194C>A (p.Thr65Lys)
c.209C>A (p.Thr70Lys)
n.82C>A
12g.110914210T>ACA386698690MYL2c.250A>T (p.Thr84Ser)
c.193A>T (p.Thr65Ser)
c.208A>T (p.Thr70Ser)
n.81A>T
12g.110914210T>CCA386698691MYL2c.250A>G (p.Thr84Ala)
c.193A>G (p.Thr65Ala)
c.208A>G (p.Thr70Ala)
n.81A>G
12g.110914210T>GCA386698692MYL2c.250A>C (p.Thr84Pro)
c.193A>C (p.Thr65Pro)
c.208A>C (p.Thr70Pro)
n.81A>C
12g.110914211G>ACA481751002MYL2c.249C>T (p.Leu83=)
c.192C>T (p.Leu64=)
c.207C>T (p.Leu69=)
n.80C>T
ClinVar dbSNP gnomAD v4
12g.110914211G>CCA481751003MYL2c.249C>G (p.Leu83=)
c.192C>G (p.Leu64=)
c.207C>G (p.Leu69=)
n.80C>G
12g.110914211G=CA2063072446MYL2c.249C= (p.Leu83=)
c.192C= (p.Leu64=)
c.207C= (p.Leu69=)
n.80C=
12g.110914211G>TCA481751004MYL2c.249C>A (p.Leu83=)
c.192C>A (p.Leu64=)
c.207C>A (p.Leu69=)
n.80C>A
12g.110914212A>CCA386698693MYL2c.248T>G (p.Leu83Arg)
c.191T>G (p.Leu64Arg)
c.206T>G (p.Leu69Arg)
n.79T>G
12g.110914212A>GCA386698694MYL2c.248T>C (p.Leu83Pro)
c.191T>C (p.Leu64Pro)
c.206T>C (p.Leu69Pro)
n.79T>C
12g.110914212A>TCA386698695MYL2c.248T>A (p.Leu83His)
c.191T>A (p.Leu64His)
c.206T>A (p.Leu69His)
n.79T>A
12g.110914213G>ACA386698696MYL2c.247C>T (p.Leu83Phe)
c.190C>T (p.Leu64Phe)
c.205C>T (p.Leu69Phe)
n.78C>T
ClinVar dbSNP gnomAD v4
12g.110914213G>CCA386698697MYL2c.247C>G (p.Leu83Val)
c.190C>G (p.Leu64Val)
c.205C>G (p.Leu69Val)
n.78C>G
ClinVar dbSNP
12g.110914213G=CA2063072450MYL2c.247C= (p.Leu83=)
c.190C= (p.Leu64=)
c.205C= (p.Leu69=)
n.78C=
12g.110914213G>TCA386698698MYL2c.247C>A (p.Leu83Ile)
c.190C>A (p.Leu64Ile)
c.205C>A (p.Leu69Ile)
n.78C>A
12g.110914214G>ACA481751005MYL2c.246C>T (p.Phe82=)
c.189C>T (p.Phe63=)
c.204C>T (p.Phe68=)
n.77C>T
12g.110914214G>CCA386698699MYL2c.246C>G (p.Phe82Leu)
c.189C>G (p.Phe63Leu)
c.204C>G (p.Phe68Leu)
n.77C>G
gnomAD v4
12g.110914214G>TCA386698700MYL2c.246C>A (p.Phe82Leu)
c.189C>A (p.Phe63Leu)
c.204C>A (p.Phe68Leu)
n.77C>A
12g.110914215A>CCA386698701MYL2c.245T>G (p.Phe82Cys)
c.188T>G (p.Phe63Cys)
c.203T>G (p.Phe68Cys)
n.76T>G
12g.110914215A>GCA386698702MYL2c.245T>C (p.Phe82Ser)
c.188T>C (p.Phe63Ser)
c.203T>C (p.Phe68Ser)
n.76T>C
12g.110914215A>TCA386698703MYL2c.245T>A (p.Phe82Tyr)
c.188T>A (p.Phe63Tyr)
c.203T>A (p.Phe68Tyr)
n.76T>A
12g.110914216A>CCA386698704MYL2c.244T>G (p.Phe82Val)
c.187T>G (p.Phe63Val)
c.202T>G (p.Phe68Val)
n.75T>G
12g.110914216A>GCA386698705MYL2c.244T>C (p.Phe82Leu)
c.187T>C (p.Phe63Leu)
c.202T>C (p.Phe68Leu)
n.75T>C
12g.110914216A>TCA386698706MYL2c.244T>A (p.Phe82Ile)
c.187T>A (p.Phe63Ile)
c.202T>A (p.Phe68Ile)
n.75T>A
12g.110914217C>ACA009955MYL2c.243G>T (p.Val81=)
c.186G>T (p.Val62=)
c.201G>T (p.Val67=)
n.74G>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.110914217C=CA2063072458MYL2c.243G= (p.Val81=)
c.186G= (p.Val62=)
c.201G= (p.Val67=)
n.74G=
12g.110914217C>GCA481751006MYL2c.243G>C (p.Val81=)
c.186G>C (p.Val62=)
c.201G>C (p.Val67=)
n.74G>C
12g.110914217C>TCA481751007MYL2c.243G>A (p.Val81=)
c.186G>A (p.Val62=)
c.201G>A (p.Val67=)
n.74G>A
12g.110914218A>CCA386698707MYL2c.242T>G (p.Val81Gly)
c.185T>G (p.Val62Gly)
c.200T>G (p.Val67Gly)
n.73T>G
12g.110914218A>GCA386698708MYL2c.242T>C (p.Val81Ala)
c.185T>C (p.Val62Ala)
c.200T>C (p.Val67Ala)
n.73T>C
COSMIC
12g.110914218A>TCA386698709MYL2c.242T>A (p.Val81Glu)
c.185T>A (p.Val62Glu)
c.200T>A (p.Val67Glu)
n.73T>A
12g.110914219C>ACA386698710MYL2c.241G>T (p.Val81Leu)
c.184G>T (p.Val62Leu)
c.199G>T (p.Val67Leu)
n.72G>T
12g.110914219C=CA2063072468MYL2c.241G= (p.Val81=)
c.184G= (p.Val62=)
c.199G= (p.Val67=)
n.72G=
12g.110914219C>GCA386698711MYL2c.241G>C (p.Val81Leu)
c.184G>C (p.Val62Leu)
c.199G>C (p.Val67Leu)
n.72G>C
12g.110914219C>TCA040867MYL2c.241G>A (p.Val81Met)
c.184G>A (p.Val62Met)
c.199G>A (p.Val67Met)
n.72G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.110914219_110914220delinsCACA2063072474MYL2c.240_241delinsTG (p.Thr80=)
c.183_184delinsTG (p.Thr61=)
c.198_199delinsTG (p.Thr66=)
n.71_72delinsTG
12g.110914219_110914222delinsCAGTCA2063072470MYL2c.238_241delinsACTG (p.Thr80=)
c.181_184delinsACTG (p.Thr61=)
c.196_199delinsACTG (p.Thr66=)
n.69_72delinsACTG
12g.110914220delCA913188516MYL2c.240del (p.Val81CysfsTer?)
c.183del (p.Val62CysfsTer?)
c.198del (p.Val67CysfsTer?)
n.71del
ClinVar dbSNP
12g.110914220A=CA2063072485MYL2c.240T= (p.Thr80=)
c.183T= (p.Thr61=)
c.198T= (p.Thr66=)
n.71T=
12g.110914220A>CCA481751008MYL2c.240T>G (p.Thr80=)
c.183T>G (p.Thr61=)
c.198T>G (p.Thr66=)
n.71T>G
12g.110914220A>GCA481751009MYL2c.240T>C (p.Thr80=)
c.183T>C (p.Thr61=)
c.198T>C (p.Thr66=)
n.71T>C
12g.110914220A>TCA243562226MYL2c.240T>A (p.Thr80=)
c.183T>A (p.Thr61=)
c.198T>A (p.Thr66=)
n.71T>A
ClinVar dbSNP
12g.110914221_110914223delCA607329951MYL2c.238_240del (p.Thr80del)
c.181_183del (p.Thr61del)
c.196_198del (p.Thr66del)
n.69_71del
dbSNP gnomAD v2 gnomAD v4
12g.110914221G>ACA386698712MYL2c.239C>T (p.Thr80Ile)
c.182C>T (p.Thr61Ile)
c.197C>T (p.Thr66Ile)
n.70C>T
12g.110914221G>CCA386698713MYL2c.239C>G (p.Thr80Ser)
c.182C>G (p.Thr61Ser)
c.197C>G (p.Thr66Ser)
n.70C>G
12g.110914221G=CA2063072492MYL2c.239C= (p.Thr80=)
c.182C= (p.Thr61=)
c.197C= (p.Thr66=)
n.70C=
12g.110914221G>TCA009949MYL2c.239C>A (p.Thr80Asn)
c.182C>A (p.Thr61Asn)
c.197C>A (p.Thr66Asn)
n.70C>A
ClinVar dbSNP
12g.110914222T>ACA386698716MYL2c.238A>T (p.Thr80Ser)
c.181A>T (p.Thr61Ser)
c.196A>T (p.Thr66Ser)
n.69A>T
12g.110914222T>CCA386698715MYL2c.238A>G (p.Thr80Ala)
c.181A>G (p.Thr61Ala)
c.196A>G (p.Thr66Ala)
n.69A>G
12g.110914222T>GCA386698714MYL2c.238A>C (p.Thr80Pro)
c.181A>C (p.Thr61Pro)
c.196A>C (p.Thr66Pro)
n.69A>C
12g.110914222_110914224delinsTAACA2063072498MYL2c.236_238delinsTTA (p.Phe79=)
c.179_181delinsTTA (p.Phe60=)
c.194_196delinsTTA (p.Phe65=)
n.67_69delinsTTA
12g.110914223A=CA2063072505MYL2c.237T= (p.Phe79=)
c.180T= (p.Phe60=)
c.195T= (p.Phe65=)
n.68T=
12g.110914223A>CCA386698717MYL2c.237T>G (p.Phe79Leu)
c.180T>G (p.Phe60Leu)
c.195T>G (p.Phe65Leu)
n.68T>G
12g.110914223A>GCA009943MYL2c.237T>C (p.Phe79=)
c.180T>C (p.Phe60=)
c.195T>C (p.Phe65=)
n.68T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.110914223A>TCA386698718MYL2c.237T>A (p.Phe79Leu)
c.180T>A (p.Phe60Leu)
c.195T>A (p.Phe65Leu)
n.68T>A
12g.110914224_110914225delCA607329953MYL2c.236_237del (p.Phe79TyrfsTer12)
c.179_180del (p.Phe60TyrfsTer12)
c.194_195del (p.Phe65TyrfsTer12)
n.67_68del
dbSNP gnomAD v2 gnomAD v4
12g.110914223_110914228delinsAAAGTTCA2063072516MYL2c.232_237delinsAACTTT (p.Asn78=)
c.175_180delinsAACTTT (p.Asn59=)
c.190_195delinsAACTTT (p.Asn64=)
n.63_68delinsAACTTT
12g.110914224A>CCA386698719MYL2c.236T>G (p.Phe79Cys)
c.179T>G (p.Phe60Cys)
c.194T>G (p.Phe65Cys)
n.67T>G
COSMIC
12g.110914224A>GCA386698720MYL2c.236T>C (p.Phe79Ser)
c.179T>C (p.Phe60Ser)
c.194T>C (p.Phe65Ser)
n.67T>C
12g.110914224A>TCA386698721MYL2c.236T>A (p.Phe79Tyr)
c.179T>A (p.Phe60Tyr)
c.194T>A (p.Phe65Tyr)
n.67T>A
12g.110914226_110914230delCA2063072523MYL2c.232_236del (p.Asn78TyrfsTer12)
c.175_179del (p.Asn59TyrfsTer12)
c.190_194del (p.Asn64TyrfsTer12)
n.63_67del
dbSNP
12g.110914225A>CCA386698722MYL2c.235T>G (p.Phe79Val)
c.178T>G (p.Phe60Val)
c.193T>G (p.Phe65Val)
n.66T>G
12g.110914225A>GCA386698724MYL2c.235T>C (p.Phe79Leu)
c.178T>C (p.Phe60Leu)
c.193T>C (p.Phe65Leu)
n.66T>C
12g.110914225A>TCA386698723MYL2c.235T>A (p.Phe79Ile)
c.178T>A (p.Phe60Ile)
c.193T>A (p.Phe65Ile)
n.66T>A
12g.110914226G>ACA481751010MYL2c.234C>T (p.Asn78=)
c.177C>T (p.Asn59=)
c.192C>T (p.Asn64=)
n.65C>T
12g.110914226G>CCA386698725MYL2c.234C>G (p.Asn78Lys)
c.177C>G (p.Asn59Lys)
c.192C>G (p.Asn64Lys)
n.65C>G
12g.110914226G>TCA386698726MYL2c.234C>A (p.Asn78Lys)
c.177C>A (p.Asn59Lys)
c.192C>A (p.Asn64Lys)
n.65C>A
12g.110914227T>ACA386698727MYL2c.233A>T (p.Asn78Ile)
c.176A>T (p.Asn59Ile)
c.191A>T (p.Asn64Ile)
n.64A>T
12g.110914227T>CCA386698728MYL2c.233A>G (p.Asn78Ser)
c.176A>G (p.Asn59Ser)
c.191A>G (p.Asn64Ser)
n.64A>G
12g.110914227T>GCA386698729MYL2c.233A>C (p.Asn78Thr)
c.176A>C (p.Asn59Thr)
c.191A>C (p.Asn64Thr)
n.64A>C
12g.110914228T>ACA386698730MYL2c.232A>T (p.Asn78Tyr)
c.175A>T (p.Asn59Tyr)
c.190A>T (p.Asn64Tyr)
n.63A>T
12g.110914228T>CCA386698731MYL2c.232A>G (p.Asn78Asp)
c.175A>G (p.Asn59Asp)
c.190A>G (p.Asn64Asp)
n.63A>G
ClinVar dbSNP
12g.110914228T>GCA386698732MYL2c.232A>C (p.Asn78His)
c.175A>C (p.Asn59His)
c.190A>C (p.Asn64His)
n.63A>C
12g.110914229A>CCA386698733MYL2c.231T>G (p.Ile77Met)
c.174T>G (p.Ile58Met)
c.189T>G (p.Ile63Met)
n.62T>G
12g.110914229A>GCA481751012MYL2c.231T>C (p.Ile77=)
c.174T>C (p.Ile58=)
c.189T>C (p.Ile63=)
n.62T>C
12g.110914229A>TCA481751011MYL2c.231T>A (p.Ile77=)
c.174T>A (p.Ile58=)
c.189T>A (p.Ile63=)
n.62T>A
12g.110914230A>CCA386698734MYL2c.230T>G (p.Ile77Ser)
c.173T>G (p.Ile58Ser)
c.188T>G (p.Ile63Ser)
n.61T>G
12g.110914230A>GCA386698735MYL2c.230T>C (p.Ile77Thr)
c.173T>C (p.Ile58Thr)
c.188T>C (p.Ile63Thr)
n.61T>C
12g.110914230A>TCA386698736MYL2c.230T>A (p.Ile77Asn)
c.173T>A (p.Ile58Asn)
c.188T>A (p.Ile63Asn)
n.61T>A
COSMIC
12g.110914231T>ACA386698738MYL2c.229A>T (p.Ile77Phe)
c.172A>T (p.Ile58Phe)
c.187A>T (p.Ile63Phe)
n.60A>T
12g.110914231T>CCA040848MYL2c.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
12g.110914231T>GCA386698737MYL2c.229A>C (p.Ile77Leu)
c.172A>C (p.Ile58Leu)
c.187A>C (p.Ile63Leu)
n.60A>C
12g.110914231T=CA2063072529MYL2c.229A= (p.Ile77=)
c.172A= (p.Ile58=)
c.187A= (p.Ile63=)
n.60A=
12g.110914232T>ACA481751013MYL2c.228A>T (p.Pro76=)
c.171A>T (p.Pro57=)
c.186A>T (p.Pro62=)
n.59A>T
12g.110914232T>CCA040823MYL2c.228A>G (p.Pro76=)
c.171A>G (p.Pro57=)
c.186A>G (p.Pro62=)
n.59A>G
dbSNP ExAC gnomAD v2 gnomAD v4
12g.110914232T>GCA481751014MYL2c.228A>C (p.Pro76=)
c.171A>C (p.Pro57=)
c.186A>C (p.Pro62=)
n.59A>C
gnomAD v4
12g.110914232T=CA2063072536MYL2c.228A= (p.Pro76=)
c.171A= (p.Pro57=)
c.186A= (p.Pro62=)
n.59A=
12g.110914233G>ACA243562240MYL2c.227C>T (p.Pro76Leu)
c.170C>T (p.Pro57Leu)
c.185C>T (p.Pro62Leu)
n.58C>T
dbSNP
12g.110914233G>CCA386698739MYL2c.227C>G (p.Pro76Arg)
c.170C>G (p.Pro57Arg)
c.185C>G (p.Pro62Arg)
n.58C>G
12g.110914233G=CA2063072544MYL2c.227C= (p.Pro76=)
c.170C= (p.Pro57=)
c.185C= (p.Pro62=)
n.58C=
12g.110914233G>TCA386698740MYL2c.227C>A (p.Pro76Gln)
c.170C>A (p.Pro57Gln)
c.185C>A (p.Pro62Gln)
n.58C>A
12g.110914234G>ACA386698741MYL2c.226C>T (p.Pro76Ser)
c.169C>T (p.Pro57Ser)
c.184C>T (p.Pro62Ser)
n.57C>T
12g.110914234G>CCA386698742MYL2c.226C>G (p.Pro76Ala)
c.169C>G (p.Pro57Ala)
c.184C>G (p.Pro62Ala)
n.57C>G
dbSNP gnomAD v4
12g.110914234G=CA2063072548MYL2c.226C= (p.Pro76=)
c.169C= (p.Pro57=)
c.184C= (p.Pro62=)
n.57C=
12g.110914234G>TCA386698743MYL2c.226C>A (p.Pro76Thr)
c.169C>A (p.Pro57Thr)
c.184C>A (p.Pro62Thr)
n.57C>A
dbSNP gnomAD v3 gnomAD v4
12g.110914235A>CCA481751015MYL2c.225T>G (p.Gly75=)
c.168T>G (p.Gly56=)
c.183T>G (p.Gly61=)
n.56T>G
12g.110914235A>GCA481751016MYL2c.225T>C (p.Gly75=)
c.168T>C (p.Gly56=)
c.183T>C (p.Gly61=)
n.56T>C
12g.110914235A>TCA481751017MYL2c.225T>A (p.Gly75=)
c.168T>A (p.Gly56=)
c.183T>A (p.Gly61=)
n.56T>A
12g.110914236C>ACA386698744MYL2c.224G>T (p.Gly75Val)
c.167G>T (p.Gly56Val)
c.182G>T (p.Gly61Val)
n.55G>T
dbSNP
12g.110914236C=CA2063072553MYL2c.224G= (p.Gly75=)
c.167G= (p.Gly56=)
c.182G= (p.Gly61=)
n.55G=
12g.110914236C>GCA386698745MYL2c.224G>C (p.Gly75Ala)
c.167G>C (p.Gly56Ala)
c.182G>C (p.Gly61Ala)
n.55G>C
12g.110914236C>TCA386698746MYL2c.224G>A (p.Gly75Asp)
c.167G>A (p.Gly56Asp)
c.182G>A (p.Gly61Asp)
n.55G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.110914238delCA2825002054MYL2c.224del (p.Gly75ValfsTer?)
c.167del (p.Gly56ValfsTer?)
c.182del (p.Gly61ValfsTer?)
n.55del
ClinVar
12g.110914237C>ACA386698747MYL2c.223G>T (p.Gly75Cys)
c.166G>T (p.Gly56Cys)
c.181G>T (p.Gly61Cys)
n.54G>T
12g.110914237C=CA2063072557MYL2c.223G= (p.Gly75=)
c.166G= (p.Gly56=)
c.181G= (p.Gly61=)
n.54G=
12g.110914237C>GCA386698748MYL2c.223G>C (p.Gly75Arg)
c.166G>C (p.Gly56Arg)
c.181G>C (p.Gly61Arg)
n.54G>C
12g.110914237C>TCA386698749MYL2c.223G>A (p.Gly75Ser)
c.166G>A (p.Gly56Ser)
c.181G>A (p.Gly61Ser)
n.54G>A
dbSNP gnomAD v2 gnomAD v4
12g.110914238C>ACA481751018MYL2c.222G>T (p.Pro74=)
c.165G>T (p.Pro55=)
c.180G>T (p.Pro60=)
n.53G>T
ClinVar gnomAD v4
12g.110914238C=CA2063072563MYL2c.222G= (p.Pro74=)
c.165G= (p.Pro55=)
c.180G= (p.Pro60=)
n.53G=
12g.110914238C>GCA481751019MYL2c.222G>C (p.Pro74=)
c.165G>C (p.Pro55=)
c.180G>C (p.Pro60=)
n.53G>C
12g.110914238C>TCA040809MYL2c.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
12g.110914239G>ACA243562249MYL2c.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
12g.110914239G>CCA386698750MYL2c.221C>G (p.Pro74Arg)
c.164C>G (p.Pro55Arg)
c.179C>G (p.Pro60Arg)
n.52C>G
ClinVar
12g.110914239G=CA2063072569MYL2c.221C= (p.Pro74=)
c.164C= (p.Pro55=)
c.179C= (p.Pro60=)
n.52C=
12g.110914239G>TCA386698751MYL2c.221C>A (p.Pro74Gln)
c.164C>A (p.Pro55Gln)
c.179C>A (p.Pro60Gln)
n.52C>A
12g.110914240G>ACA386698752MYL2c.220C>T (p.Pro74Ser)
c.163C>T (p.Pro55Ser)
c.178C>T (p.Pro60Ser)
n.51C>T
ClinVar dbSNP
12g.110914240G>CCA386698753MYL2c.220C>G (p.Pro74Ala)
c.163C>G (p.Pro55Ala)
c.178C>G (p.Pro60Ala)
n.51C>G
12g.110914240G>TCA386698754MYL2c.220C>A (p.Pro74Thr)
c.163C>A (p.Pro55Thr)
c.178C>A (p.Pro60Thr)
n.51C>A
COSMIC
12g.110914241A>CCA481751020MYL2c.219T>G (p.Ala73=)
c.162T>G (p.Ala54=)
c.177T>G (p.Ala59=)
n.50T>G
12g.110914241A>GCA481751022MYL2c.219T>C (p.Ala73=)
c.162T>C (p.Ala54=)
c.177T>C (p.Ala59=)
n.50T>C
gnomAD v4
12g.110914241A>TCA481751021MYL2c.219T>A (p.Ala73=)
c.162T>A (p.Ala54=)
c.177T>A (p.Ala59=)
n.50T>A
12g.110914242G>ACA386698755MYL2c.218C>T (p.Ala73Val)
c.161C>T (p.Ala54Val)
c.176C>T (p.Ala59Val)
n.49C>T
gnomAD v4 COSMIC
12g.110914242G>CCA386698756MYL2c.218C>G (p.Ala73Gly)
c.161C>G (p.Ala54Gly)
c.176C>G (p.Ala59Gly)
n.49C>G
12g.110914242G>TCA386698757MYL2c.218C>A (p.Ala73Asp)
c.161C>A (p.Ala54Asp)
c.176C>A (p.Ala59Asp)
n.49C>A
ClinVar dbSNP
12g.110914243C>ACA386698758MYL2c.217G>T (p.Ala73Ser)
c.160G>T (p.Ala54Ser)
c.175G>T (p.Ala59Ser)
n.48G>T
ClinVar dbSNP
12g.110914243C>GCA386698759MYL2c.217G>C (p.Ala73Pro)
c.160G>C (p.Ala54Pro)
c.175G>C (p.Ala59Pro)
n.48G>C
12g.110914243C>TCA386698760MYL2c.217G>A (p.Ala73Thr)
c.160G>A (p.Ala54Thr)
c.175G>A (p.Ala59Thr)
n.48G>A
12g.110914244delCA2573053599MYL2c.217del (p.Ala73LeufsTer?)
c.160del (p.Ala54LeufsTer?)
c.175del (p.Ala59LeufsTer?)
n.48del
ClinVar dbSNP
12g.110914244C>ACA386698761MYL2c.216G>T (p.Glu72Asp)
c.159G>T (p.Glu53Asp)
c.174G>T (p.Glu58Asp)
n.47G>T
12g.110914244C=CA2063072580MYL2c.216G= (p.Glu72=)
c.159G= (p.Glu53=)
c.174G= (p.Glu58=)
n.47G=
12g.110914244C>GCA386698762MYL2c.216G>C (p.Glu72Asp)
c.159G>C (p.Glu53Asp)
c.174G>C (p.Glu58Asp)
n.47G>C
ClinVar dbSNP gnomAD v4
12g.110914244C>TCA040768MYL2c.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
12g.110914245T>ACA386698765MYL2c.215A>T (p.Glu72Val)
c.158A>T (p.Glu53Val)
c.173A>T (p.Glu58Val)
n.46A>T
12g.110914245T>CCA386698764MYL2c.215A>G (p.Glu72Gly)
c.158A>G (p.Glu53Gly)
c.173A>G (p.Glu58Gly)
n.46A>G
12g.110914245T>GCA386698763MYL2c.215A>C (p.Glu72Ala)
c.158A>C (p.Glu53Ala)
c.173A>C (p.Glu58Ala)
n.46A>C
12g.110914246C>ACA386698766MYL2c.214G>T (p.Glu72Ter)
c.157G>T (p.Glu53Ter)
c.172G>T (p.Glu58Ter)
n.45G>T
12g.110914246C>GCA386698767MYL2c.214G>C (p.Glu72Gln)
c.157G>C (p.Glu53Gln)
c.172G>C (p.Glu58Gln)
n.45G>C
12g.110914246C>TCA386698768MYL2c.214G>A (p.Glu72Lys)
c.157G>A (p.Glu53Lys)
c.172G>A (p.Glu58Lys)
n.45G>A
12g.110914247C>ACA386698769MYL2c.213G>T (p.Lys71Asn)
c.156G>T (p.Lys52Asn)
c.171G>T (p.Lys57Asn)
n.44G>T
12g.110914247C=CA2063072590MYL2c.213G= (p.Lys71=)
c.156G= (p.Lys52=)
c.171G= (p.Lys57=)
n.44G=
12g.110914247C>GCA386698770MYL2c.213G>C (p.Lys71Asn)
c.156G>C (p.Lys52Asn)
c.171G>C (p.Lys57Asn)
n.44G>C
12g.110914247C>TCA481751023MYL2c.213G>A (p.Lys71=)
c.156G>A (p.Lys52=)
c.171G>A (p.Lys57=)
n.44G>A
dbSNP
12g.110914248T>ACA386698771MYL2c.212A>T (p.Lys71Met)
c.155A>T (p.Lys52Met)
c.170A>T (p.Lys57Met)
n.43A>T
ClinVar dbSNP
12g.110914248T>CCA386698772MYL2c.212A>G (p.Lys71Arg)
c.155A>G (p.Lys52Arg)
c.170A>G (p.Lys57Arg)
n.43A>G
gnomAD v4
12g.110914248T>GCA386698773MYL2c.212A>C (p.Lys71Thr)
c.155A>C (p.Lys52Thr)
c.170A>C (p.Lys57Thr)
n.43A>C
12g.110914249T>ACA386698774MYL2c.211A>T (p.Lys71Ter)
c.154A>T (p.Lys52Ter)
c.169A>T (p.Lys57Ter)
n.42A>T
12g.110914249T>CCA386698776MYL2c.211A>G (p.Lys71Glu)
c.154A>G (p.Lys52Glu)
c.169A>G (p.Lys57Glu)
n.42A>G
COSMIC
12g.110914249T>GCA386698775MYL2c.211A>C (p.Lys71Gln)
c.154A>C (p.Lys52Gln)
c.169A>C (p.Lys57Gln)
n.42A>C
12g.110914250G>ACA481751024MYL2c.210C>T (p.Ile70=)
c.153C>T (p.Ile51=)
c.168C>T (p.Ile56=)
n.41C>T
COSMIC
12g.110914250G>CCA386698777MYL2c.210C>G (p.Ile70Met)
c.153C>G (p.Ile51Met)
c.168C>G (p.Ile56Met)
n.41C>G
12g.110914250G>TCA481751025MYL2c.210C>A (p.Ile70=)
c.153C>A (p.Ile51=)
c.168C>A (p.Ile56=)
n.41C>A
gnomAD v4
12g.110914251A>CCA386698778MYL2c.209T>G (p.Ile70Ser)
c.152T>G (p.Ile51Ser)
c.167T>G (p.Ile56Ser)
n.40T>G
12g.110914251A>GCA386698779MYL2c.209T>C (p.Ile70Thr)
c.152T>C (p.Ile51Thr)
c.167T>C (p.Ile56Thr)
n.40T>C
gnomAD v4
12g.110914251A>TCA386698780MYL2c.209T>A (p.Ile70Asn)
c.152T>A (p.Ile51Asn)
c.167T>A (p.Ile56Asn)
n.40T>A
12g.110914252T>ACA386698781MYL2c.208A>T (p.Ile70Phe)
c.151A>T (p.Ile51Phe)
c.166A>T (p.Ile56Phe)
n.39A>T
12g.110914252T>CCA386698783MYL2c.208A>G (p.Ile70Val)
c.151A>G (p.Ile51Val)
c.166A>G (p.Ile56Val)
n.39A>G
12g.110914252T>GCA386698782MYL2c.208A>C (p.Ile70Leu)
c.151A>C (p.Ile51Leu)
c.166A>C (p.Ile56Leu)
n.39A>C
12g.110914253C>ACA386698784MYL2c.207G>T (p.Met69Ile)
c.150G>T (p.Met50Ile)
c.165G>T (p.Met55Ile)
n.38G>T
ClinVar dbSNP gnomAD v4
12g.110914253C=CA2063072605MYL2c.207G= (p.Met69=)
c.150G= (p.Met50=)
c.165G= (p.Met55=)
n.38G=
12g.110914253C>GCA386698785MYL2c.207G>C (p.Met69Ile)
c.150G>C (p.Met50Ile)
c.165G>C (p.Met55Ile)
n.38G>C
12g.110914253C>TCA243562260MYL2c.207G>A (p.Met69Ile)
c.150G>A (p.Met50Ile)
c.165G>A (p.Met55Ile)
n.38G>A
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.110914254A=CA2063072617MYL2c.206T= (p.Met69=)
c.149T= (p.Met50=)
c.164T= (p.Met55=)
n.37T=
12g.110914254A>CCA386698786MYL2c.206T>G (p.Met69Arg)
c.149T>G (p.Met50Arg)
c.164T>G (p.Met55Arg)
n.37T>G
12g.110914254A>GCA386698787MYL2c.206T>C (p.Met69Thr)
c.149T>C (p.Met50Thr)
c.164T>C (p.Met55Thr)
n.37T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.110914254A>TCA386698788MYL2c.206T>A (p.Met69Lys)
c.149T>A (p.Met50Lys)
c.164T>A (p.Met55Lys)
n.37T>A
12g.110914255T>ACA386698789MYL2c.205A>T (p.Met69Leu)
c.148A>T (p.Met50Leu)
c.163A>T (p.Met55Leu)
n.36A>T
12g.110914255T>CCA386698790MYL2c.205A>G (p.Met69Val)
c.148A>G (p.Met50Val)
c.163A>G (p.Met55Val)
n.36A>G
12g.110914255T>GCA386698791MYL2c.205A>C (p.Met69Leu)
c.148A>C (p.Met50Leu)
c.163A>C (p.Met55Leu)
n.36A>C
ClinVar dbSNP
12g.110914256T>ACA386698792MYL2c.204A>T (p.Glu68Asp)
c.147A>T (p.Glu49Asp)
c.162A>T (p.Glu54Asp)
n.35A>T
12g.110914256T>CCA481751026MYL2c.204A>G (p.Glu68=)
c.147A>G (p.Glu49=)
c.162A>G (p.Glu54=)
n.35A>G
dbSNP
12g.110914256T>GCA386698793MYL2c.204A>C (p.Glu68Asp)
c.147A>C (p.Glu49Asp)
c.162A>C (p.Glu54Asp)
n.35A>C
12g.110914256T=CA2063072633MYL2c.204A= (p.Glu68=)
c.147A= (p.Glu49=)
c.162A= (p.Glu54=)
n.35A=
12g.110914257T>ACA386698795MYL2c.203A>T (p.Glu68Val)
c.146A>T (p.Glu49Val)
c.161A>T (p.Glu54Val)
n.34A>T
12g.110914257T>CCA040751MYL2c.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
12g.110914257T>GCA386698794MYL2c.203A>C (p.Glu68Ala)
c.146A>C (p.Glu49Ala)
c.161A>C (p.Glu54Ala)
n.34A>C
ClinVar
12g.110914257T=CA2063072637MYL2c.203A= (p.Glu68=)
c.146A= (p.Glu49=)
c.161A= (p.Glu54=)
n.34A=
12g.110914258_110914264delCA2573147987MYL2c.197_203del (p.Ile66LysfsTer2)
c.140_146del (p.Ile47LysfsTer2)
c.155_161del (p.Ile52LysfsTer2)
n.28_34del
ClinVar dbSNP
12g.110914258C>ACA386698796MYL2c.202G>T (p.Glu68Ter)
c.145G>T (p.Glu49Ter)
c.160G>T (p.Glu54Ter)
n.33G>T
12g.110914258C>GCA386698798MYL2c.202G>C (p.Glu68Gln)
c.145G>C (p.Glu49Gln)
c.160G>C (p.Glu54Gln)
n.33G>C
12g.110914258C>TCA386698797MYL2c.202G>A (p.Glu68Lys)
c.145G>A (p.Glu49Lys)
c.160G>A (p.Glu54Lys)
n.33G>A
12g.110914259A>CCA386698799MYL2c.201T>G (p.Asp67Glu)
c.144T>G (p.Asp48Glu)
c.159T>G (p.Asp53Glu)
n.32T>G
12g.110914259A>GCA481751027MYL2c.201T>C (p.Asp67=)
c.144T>C (p.Asp48=)
c.159T>C (p.Asp53=)
n.32T>C
12g.110914259A>TCA386698800MYL2c.201T>A (p.Asp67Glu)
c.144T>A (p.Asp48Glu)
c.159T>A (p.Asp53Glu)
n.32T>A
12g.110914260T>ACA386698801MYL2c.200A>T (p.Asp67Val)
c.143A>T (p.Asp48Val)
c.158A>T (p.Asp53Val)
n.31A>T
12g.110914260T>CCA386698802MYL2c.200A>G (p.Asp67Gly)
c.143A>G (p.Asp48Gly)
c.158A>G (p.Asp53Gly)
n.31A>G
12g.110914260T>GCA386698803MYL2c.200A>C (p.Asp67Ala)
c.143A>C (p.Asp48Ala)
c.158A>C (p.Asp53Ala)
n.31A>C
12g.110914261C>ACA386698804MYL2c.199G>T (p.Asp67Tyr)
c.142G>T (p.Asp48Tyr)
c.157G>T (p.Asp53Tyr)
n.30G>T
12g.110914261C>GCA386698805MYL2c.199G>C (p.Asp67His)
c.142G>C (p.Asp48His)
c.157G>C (p.Asp53His)
n.30G>C
12g.110914261C>TCA386698806MYL2c.199G>A (p.Asp67Asn)
c.142G>A (p.Asp48Asn)
c.157G>A (p.Asp53Asn)
n.30G>A
12g.110914262A=CA2063072646MYL2c.198T= (p.Ile66=)
c.141T= (p.Ile47=)
c.156T= (p.Ile52=)
n.29T=
12g.110914262A>CCA386698807MYL2c.198T>G (p.Ile66Met)
c.141T>G (p.Ile47Met)
c.156T>G (p.Ile52Met)
n.29T>G
12g.110914262A>GCA040723MYL2c.198T>C (p.Ile66=)
c.141T>C (p.Ile47=)
c.156T>C (p.Ile52=)
n.29T>C
dbSNP ExAC gnomAD v2 gnomAD v4
12g.110914262A>TCA481751028MYL2c.198T>A (p.Ile66=)
c.141T>A (p.Ile47=)
c.156T>A (p.Ile52=)
n.29T>A
dbSNP gnomAD v2
12g.110914263A>CCA386698808MYL2c.197T>G (p.Ile66Ser)
c.140T>G (p.Ile47Ser)
c.155T>G (p.Ile52Ser)
n.28T>G
12g.110914263A>GCA386698809MYL2c.197T>C (p.Ile66Thr)
c.140T>C (p.Ile47Thr)
c.155T>C (p.Ile52Thr)
n.28T>C
12g.110914263A>TCA386698810MYL2c.197T>A (p.Ile66Asn)
c.140T>A (p.Ile47Asn)
c.155T>A (p.Ile52Asn)
n.28T>A
12g.110914264T>ACA386698811MYL2c.196A>T (p.Ile66Phe)
c.139A>T (p.Ile47Phe)
c.154A>T (p.Ile52Phe)
n.27A>T
12g.110914264T>CCA386698812MYL2c.196A>G (p.Ile66Val)
c.139A>G (p.Ile47Val)
c.154A>G (p.Ile52Val)
n.27A>G
12g.110914264T>GCA386698813MYL2c.196A>C (p.Ile66Leu)
c.139A>C (p.Ile47Leu)
c.154A>C (p.Ile52Leu)
n.27A>C
COSMIC
12g.110914264_110914267delinsTTTCCA2063072654MYL2c.193_196delinsGAAA (p.Glu65=)
c.136_139delinsGAAA (p.Glu46=)
c.151_154delinsGAAA (p.Glu51=)
n.24_27delinsGAAA
12g.110914268_110914277dupCA2575293013MYL2c.187_196dup (p.Ile66LysfsTer2)
c.130_139dup (p.Ile47LysfsTer2)
c.145_154dup (p.Ile52LysfsTer2)
n.18_27dup
12g.110914265T>ACA386698814MYL2c.195A>T (p.Glu65Asp)
c.138A>T (p.Glu46Asp)
c.153A>T (p.Glu51Asp)
n.26A>T
12g.110914265T>CCA481751029MYL2c.195A>G (p.Glu65=)
c.138A>G (p.Glu46=)
c.153A>G (p.Glu51=)
n.26A>G
dbSNP
12g.110914265T>GCA386698815MYL2c.195A>C (p.Glu65Asp)
c.138A>C (p.Glu46Asp)
c.153A>C (p.Glu51Asp)
n.26A>C
12g.110914265T=CA2063072660MYL2c.195A= (p.Glu65=)
c.138A= (p.Glu46=)
c.153A= (p.Glu51=)
n.26A=
12g.110914268_110914270delCA607329960MYL2c.193_195del (p.Glu65del)
c.136_138del (p.Glu46del)
c.151_153del (p.Glu51del)
n.24_26del
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.110914266T>ACA386698816MYL2c.194A>T (p.Glu65Val)
c.137A>T (p.Glu46Val)
c.152A>T (p.Glu51Val)
n.25A>T
12g.110914266T>CCA386698817MYL2c.194A>G (p.Glu65Gly)
c.137A>G (p.Glu46Gly)
c.152A>G (p.Glu51Gly)
n.25A>G
gnomAD v4
12g.110914266T>GCA386698818MYL2c.194A>C (p.Glu65Ala)
c.137A>C (p.Glu46Ala)
c.152A>C (p.Glu51Ala)
n.25A>C
dbSNP
12g.110914266T=CA2063072665MYL2c.194A= (p.Glu65=)
c.137A= (p.Glu46=)
c.152A= (p.Glu51=)
n.25A=
12g.110914267C>ACA386698819MYL2c.193G>T (p.Glu65Ter)
c.136G>T (p.Glu46Ter)
c.151G>T (p.Glu51Ter)
n.24G>T
ClinVar dbSNP
12g.110914267C=CA2063072669MYL2c.193G= (p.Glu65=)
c.136G= (p.Glu46=)
c.151G= (p.Glu51=)
n.24G=
12g.110914267C>GCA386698820MYL2c.193G>C (p.Glu65Gln)
c.136G>C (p.Glu46Gln)
c.151G>C (p.Glu51Gln)
n.24G>C
12g.110914267C>TCA009936MYL2c.193G>A (p.Glu65Lys)
c.136G>A (p.Glu46Lys)
c.151G>A (p.Glu51Lys)
n.24G>A
ClinVar dbSNP
12g.110914268T>ACA386698821MYL2c.192A>T (p.Glu64Asp)
c.135A>T (p.Glu45Asp)
c.150A>T (p.Glu50Asp)
n.23A>T
gnomAD v4
12g.110914268T>CCA481751030MYL2c.192A>G (p.Glu64=)
c.135A>G (p.Glu45=)
c.150A>G (p.Glu50=)
n.23A>G
12g.110914268T>GCA386698822MYL2c.192A>C (p.Glu64Asp)
c.135A>C (p.Glu45Asp)
c.150A>C (p.Glu50Asp)
n.23A>C
12g.110914269T>ACA386698823MYL2c.191A>T (p.Glu64Val)
c.134A>T (p.Glu45Val)
c.149A>T (p.Glu50Val)
n.22A>T
12g.110914269T>CCA386698824MYL2c.191A>G (p.Glu64Gly)
c.134A>G (p.Glu45Gly)
c.149A>G (p.Glu50Gly)
n.22A>G
gnomAD v4
12g.110914269T>GCA386698825MYL2c.191A>C (p.Glu64Ala)
c.134A>C (p.Glu45Ala)
c.149A>C (p.Glu50Ala)
n.22A>C
12g.110914270C>ACA386698828MYL2c.190G>T (p.Glu64Ter)
c.133G>T (p.Glu45Ter)
c.148G>T (p.Glu50Ter)
n.21G>T
12g.110914270C>GCA386698827MYL2c.190G>C (p.Glu64Gln)
c.133G>C (p.Glu45Gln)
c.148G>C (p.Glu50Gln)
n.21G>C
12g.110914270C>TCA386698826MYL2c.190G>A (p.Glu64Lys)
c.133G>A (p.Glu45Lys)
c.148G>A (p.Glu50Lys)
n.21G>A
COSMIC
12g.110914271A=CA2063072685MYL2c.189T= (p.Asn63=)
c.132T= (p.Asn44=)
c.147T= (p.Asn49=)
n.20T=
12g.110914271A>CCA386698829MYL2c.189T>G (p.Asn63Lys)
c.132T>G (p.Asn44Lys)
c.147T>G (p.Asn49Lys)
n.20T>G
12g.110914271A>GCA481751031MYL2c.189T>C (p.Asn63=)
c.132T>C (p.Asn44=)
c.147T>C (p.Asn49=)
n.20T>C
dbSNP gnomAD v4
12g.110914271A>TCA386698830MYL2c.189T>A (p.Asn63Lys)
c.132T>A (p.Asn44Lys)
c.147T>A (p.Asn49Lys)
n.20T>A
12g.110914271_110914272delinsATCA2063072682MYL2c.188_189delinsAT (p.Asn63=)
c.131_132delinsAT (p.Asn44=)
c.146_147delinsAT (p.Asn49=)
n.19_20delinsAT
12g.110914272T>ACA386698831MYL2c.188A>T (p.Asn63Ile)
c.131A>T (p.Asn44Ile)
c.146A>T (p.Asn49Ile)
n.19A>T
12g.110914272T>CCA386698832MYL2c.188A>G (p.Asn63Ser)
c.131A>G (p.Asn44Ser)
c.146A>G (p.Asn49Ser)
n.19A>G
12g.110914272T>GCA386698833MYL2c.188A>C (p.Asn63Thr)
c.131A>C (p.Asn44Thr)
c.146A>C (p.Asn49Thr)
n.19A>C
12g.110914276delCA607329961MYL2c.188del (p.Asn63MetfsTer7)
c.131del (p.Asn44MetfsTer7)
c.146del (p.Asn49MetfsTer7)
n.19del
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.110914273T>ACA386698834MYL2c.187A>T (p.Asn63Tyr)
c.130A>T (p.Asn44Tyr)
c.145A>T (p.Asn49Tyr)
n.18A>T
12g.110914273T>CCA386698835MYL2c.187A>G (p.Asn63Asp)
c.130A>G (p.Asn44Asp)
c.145A>G (p.Asn49Asp)
n.18A>G
12g.110914273T>GCA386698836MYL2c.187A>C (p.Asn63His)
c.130A>C (p.Asn44His)
c.145A>C (p.Asn49His)
n.18A>C
12g.110914274T>ACA386698837MYL2c.186A>T (p.Lys62Asn)
c.129A>T (p.Lys43Asn)
c.144A>T (p.Lys48Asn)
n.17A>T
12g.110914274T>CCA481751032MYL2c.186A>G (p.Lys62=)
c.129A>G (p.Lys43=)
c.144A>G (p.Lys48=)
n.17A>G
12g.110914274T>GCA386698838MYL2c.186A>C (p.Lys62Asn)
c.129A>C (p.Lys43Asn)
c.144A>C (p.Lys48Asn)
n.17A>C
12g.110914275T>ACA386698839MYL2c.185A>T (p.Lys62Ile)
c.128A>T (p.Lys43Ile)
c.143A>T (p.Lys48Ile)
n.16A>T
12g.110914275T>CCA386698840MYL2c.185A>G (p.Lys62Arg)
c.128A>G (p.Lys43Arg)
c.143A>G (p.Lys48Arg)
n.16A>G
12g.110914275T>GCA386698841MYL2c.185A>C (p.Lys62Thr)
c.128A>C (p.Lys43Thr)
c.143A>C (p.Lys48Thr)
n.16A>C
ClinVar dbSNP
12g.110914275T=CA2063072696MYL2c.185A= (p.Lys62=)
c.128A= (p.Lys43=)
c.143A= (p.Lys48=)
n.16A=
12g.110914276T>ACA009930MYL2c.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
12g.110914276T>CCA386698842MYL2c.184A>G (p.Lys62Glu)
c.127A>G (p.Lys43Glu)
c.142A>G (p.Lys48Glu)
n.15A>G
12g.110914276T>GCA386698843MYL2c.184A>C (p.Lys62Gln)
c.127A>C (p.Lys43Gln)
c.142A>C (p.Lys48Gln)
n.15A>C
12g.110914276T=CA2063072701MYL2c.184A= (p.Lys62=)
c.127A= (p.Lys43=)
c.142A= (p.Lys48=)
n.15A=
12g.110914277C>ACA481751033MYL2c.183G>T (p.Val61=)
c.126G>T (p.Val42=)
c.141G>T (p.Val47=)
n.14G>T
12g.110914277C=CA2063072713MYL2c.183G= (p.Val61=)
c.126G= (p.Val42=)
c.141G= (p.Val47=)
n.14G=
12g.110914277C>GCA481751034MYL2c.183G>C (p.Val61=)
c.126G>C (p.Val42=)
c.141G>C (p.Val47=)
n.14G>C
12g.110914277C>TCA243562275MYL2c.183G>A (p.Val61=)
c.126G>A (p.Val42=)
c.141G>A (p.Val47=)
n.14G>A
ClinVar dbSNP gnomAD v4 COSMIC
12g.110914278A>CCA386698844MYL2c.182T>G (p.Val61Gly)
c.125T>G (p.Val42Gly)
c.140T>G (p.Val47Gly)
n.13T>G
12g.110914278A>GCA386698845MYL2c.182T>C (p.Val61Ala)
c.125T>C (p.Val42Ala)
c.140T>C (p.Val47Ala)
n.13T>C
12g.110914278A>TCA386698846MYL2c.182T>A (p.Val61Glu)
c.125T>A (p.Val42Glu)
c.140T>A (p.Val47Glu)
n.13T>A
12g.110914279C>ACA386698847MYL2c.181G>T (p.Val61Leu)
c.124G>T (p.Val42Leu)
c.139G>T (p.Val47Leu)
n.12G>T
12g.110914279C=CA2063072718MYL2c.181G= (p.Val61=)
c.124G= (p.Val42=)
c.139G= (p.Val47=)
n.12G=
12g.110914279C>GCA386698848MYL2c.181G>C (p.Val61Leu)
c.124G>C (p.Val42Leu)
c.139G>C (p.Val47Leu)
n.12G>C
ClinVar dbSNP gnomAD v4
12g.110914279C>TCA009922MYL2c.181G>A (p.Val61Met)
c.124G>A (p.Val42Met)
c.139G>A (p.Val47Met)
n.12G>A
ClinVar dbSNP gnomAD v4
12g.110914280G>ACA243562291MYL2c.180C>T (p.Asn60=)
c.123C>T (p.Asn41=)
c.138C>T (p.Asn46=)
n.11C>T
ClinVar dbSNP gnomAD v4
12g.110914280G>CCA386698849MYL2c.180C>G (p.Asn60Lys)
c.123C>G (p.Asn41Lys)
c.138C>G (p.Asn46Lys)
n.11C>G
dbSNP gnomAD v3 gnomAD v4 COSMIC
12g.110914280G=CA2063072731MYL2c.180C= (p.Asn60=)
c.123C= (p.Asn41=)
c.138C= (p.Asn46=)
n.11C=
12g.110914280G>TCA386698850MYL2c.180C>A (p.Asn60Lys)
c.123C>A (p.Asn41Lys)
c.138C>A (p.Asn46Lys)
n.11C>A
12g.110914281T>ACA386698851MYL2c.179A>T (p.Asn60Ile)
c.122A>T (p.Asn41Ile)
c.137A>T (p.Asn46Ile)
n.10A>T
COSMIC
12g.110914281T>CCA386698852MYL2c.179A>G (p.Asn60Ser)
c.122A>G (p.Asn41Ser)
c.137A>G (p.Asn46Ser)
n.10A>G
COSMIC
12g.110914281T>GCA386698853MYL2c.179A>C (p.Asn60Thr)
c.122A>C (p.Asn41Thr)
c.137A>C (p.Asn46Thr)
n.10A>C
12g.110914282T>ACA386698856MYL2c.178A>T (p.Asn60Tyr)
c.121A>T (p.Asn41Tyr)
c.136A>T (p.Asn46Tyr)
n.9A>T
12g.110914282T>CCA386698855MYL2c.178A>G (p.Asn60Asp)
c.121A>G (p.Asn41Asp)
c.136A>G (p.Asn46Asp)
n.9A>G
dbSNP gnomAD v3 gnomAD v4
12g.110914282T>GCA386698854MYL2c.178A>C (p.Asn60His)
c.121A>C (p.Asn41His)
c.136A>C (p.Asn46His)
n.9A>C
12g.110914282T=CA2063072736MYL2c.178A= (p.Asn60=)
c.121A= (p.Asn41=)
c.136A= (p.Asn46=)
n.9A=
12g.110914283C>ACA481751036MYL2c.177G>T (p.Val59=)
c.120G>T (p.Val40=)
c.135G>T (p.Val45=)
n.8G>T
12g.110914283C>GCA481751037MYL2c.177G>C (p.Val59=)
c.120G>C (p.Val40=)
c.135G>C (p.Val45=)
n.8G>C
12g.110914283C>TCA481751038MYL2c.177G>A (p.Val59=)
c.120G>A (p.Val40=)
c.135G>A (p.Val45=)
n.8G>A
gnomAD v4
12g.110914284A=CA2063072742MYL2c.176T= (p.Val59=)
c.119T= (p.Val40=)
c.134T= (p.Val45=)
n.7T=
12g.110914284A>CCA386698857MYL2c.176T>G (p.Val59Gly)
c.119T>G (p.Val40Gly)
c.134T>G (p.Val45Gly)
n.7T>G
12g.110914284A>GCA386698859MYL2c.176T>C (p.Val59Ala)
c.119T>C (p.Val40Ala)
c.134T>C (p.Val45Ala)
n.7T>C
ClinVar
12g.110914284A>TCA386698858MYL2c.176T>A (p.Val59Glu)
c.119T>A (p.Val40Glu)
c.134T>A (p.Val45Glu)
n.7T>A
ClinVar dbSNP
12g.110914285C>ACA386698860MYL2c.175G>T (p.Val59Leu)
c.118G>T (p.Val40Leu)
c.133G>T (p.Val45Leu)
n.6G>T
12g.110914285C=CA2063072749MYL2c.175G= (p.Val59=)
c.118G= (p.Val40=)
c.133G= (p.Val45=)
n.6G=
12g.110914285C>GCA386698861MYL2c.175G>C (p.Val59Leu)
c.118G>C (p.Val40Leu)
c.133G>C (p.Val45Leu)
n.6G>C
12g.110914285C>TCA386698862MYL2c.175G>A (p.Val59Met)
c.118G>A (p.Val40Met)
c.133G>A (p.Val45Met)
n.6G>A
ClinVar dbSNP
12g.110914286T>ACA481751039MYL2c.174A>T (p.Arg58=)
c.117A>T (p.Arg39=)
c.132A>T (p.Arg44=)
n.5A>T
12g.110914286T>CCA040687MYL2c.174A>G (p.Arg58=)
c.117A>G (p.Arg39=)
c.132A>G (p.Arg44=)
n.5A>G
ClinVar dbSNP ExAC gnomAD v4
12g.110914286T>GCA481751040MYL2c.174A>C (p.Arg58=)
c.117A>C (p.Arg39=)
c.132A>C (p.Arg44=)
n.5A>C
12g.110914286T=CA2063072755MYL2c.174A= (p.Arg58=)
c.117A= (p.Arg39=)
c.132A= (p.Arg44=)
n.5A=
12g.110914287C>ACA386698863MYL2c.173G>T (p.Arg58Leu)
c.116G>T (p.Arg39Leu)
c.131G>T (p.Arg44Leu)
n.4G>T
ClinVar dbSNP
12g.110914287C=CA2063072761MYL2c.173G= (p.Arg58=)
c.116G= (p.Arg39=)
c.131G= (p.Arg44=)
n.4G=
12g.110914287C>GCA386698864MYL2c.173G>C (p.Arg58Pro)
c.116G>C (p.Arg39Pro)
c.131G>C (p.Arg44Pro)
n.4G>C
12g.110914287C>TCA009915MYL2c.173G>A (p.Arg58Gln)
c.116G>A (p.Arg39Gln)
c.131G>A (p.Arg44Gln)
n.4G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.110914287_110914288insCTCA243562312MYL2c.172_173insAG (p.Arg58GlnfsTer3)
c.115_116insAG (p.Arg39GlnfsTer3)
c.130_131insAG (p.Arg44GlnfsTer3)
n.3_4insAG
dbSNP
12g.110914288G>ACA040649MYL2c.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
12g.110914288G>CCA386698865MYL2c.172C>G (p.Arg58Gly)
c.115C>G (p.Arg39Gly)
c.130C>G (p.Arg44Gly)
n.3C>G
ClinVar
12g.110914288G=CA2063072779MYL2c.172C= (p.Arg58=)
c.115C= (p.Arg39=)
c.130C= (p.Arg44=)
n.3C=
12g.110914288G>TCA040633MYL2c.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
12g.110914289C>ACA481751041MYL2c.171G>T (p.Gly57=)
c.114G>T (p.Gly38=)
c.129G>T (p.Gly43=)
n.2G>T
12g.110914289C=CA2063072788MYL2c.171G= (p.Gly57=)
c.114G= (p.Gly38=)
c.129G= (p.Gly43=)
n.2G=
12g.110914289C>GCA481751042MYL2c.171G>C (p.Gly57=)
c.114G>C (p.Gly38=)
c.129G>C (p.Gly43=)
n.2G>C
12g.110914289C>TCA481751043MYL2c.171G>A (p.Gly57=)
c.114G>A (p.Gly38=)
c.129G>A (p.Gly43=)
n.2G>A
dbSNP
12g.110914290C>ACA386698867MYL2c.170G>T (p.Gly57Val)
c.113G>T (p.Gly38Val)
c.128G>T (p.Gly43Val)
n.1G>T
12g.110914290C=CA2063072796MYL2c.170G= (p.Gly57=)
c.113G= (p.Gly38=)
c.128G= (p.Gly43=)
n.1G=
12g.110914290C>GCA386698866MYL2c.170G>C (p.Gly57Ala)
c.113G>C (p.Gly38Ala)
c.128G>C (p.Gly43Ala)
n.1G>C
12g.110914290C>TCA009910MYL2c.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
12g.110914291C>ACA386698868MYL2c.170-1G>T (n.170-1G>T)
c.113-1G>T (n.113-1G>T)
c.127G>T (p.Gly43Trp)
COSMIC
12g.110914291C=CA2063072802MYL2c.170-1G= (n.170-1G=)
c.113-1G= (n.113-1G=)
c.127G= (p.Gly43=)
12g.110914291C>GCA386698869MYL2c.170-1G>C (n.170-1G>C)
c.113-1G>C (n.113-1G>C)
c.127G>C (p.Gly43Arg)
12g.110914291C>TCA386698870MYL2c.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
12g.110914292T>ACA243562322MYL2c.170-2A>T (n.170-2A>T)
c.113-2A>T (n.113-2A>T)
c.126A>T (p.Leu42=)
dbSNP gnomAD v4
12g.110914292T>CCA386698871MYL2c.170-2A>G (n.170-2A>G)
c.113-2A>G (n.113-2A>G)
c.126A>G (p.Leu42=)
12g.110914292T>GCA386698872MYL2c.170-2A>C (n.170-2A>C)
c.113-2A>C (n.113-2A>C)
c.126A>C (p.Leu42=)
dbSNP
12g.110914292T=CA2063072808MYL2c.170-2A= (n.170-2A=)
c.113-2A= (n.113-2A=)
c.126A= (p.Leu42=)
12g.110914296_110914300dupCA6788120MYL2c.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
12g.110914293A>CCA386698873MYL2c.170-3T>G (n.170-3T>G)
c.113-3T>G (n.113-3T>G)
c.125T>G (p.Leu42Arg)
12g.110914293A>GCA386698874MYL2c.170-3T>C (n.170-3T>C)
c.113-3T>C (n.113-3T>C)
c.125T>C (p.Leu42Pro)
ClinVar
12g.110914293A>TCA386698875MYL2c.170-3T>A (n.170-3T>A)
c.113-3T>A (n.113-3T>A)
c.125T>A (p.Leu42Gln)
12g.110914293_110914294delinsAGCA2063072812MYL2c.170-4_170-3delinsCT (n.170-4_170-3delinsCT)
c.113-4_113-3delinsCT (n.113-4_113-3delinsCT)
c.124_125delinsCT (p.Leu42=)
12g.110914294G>ACA683557020MYL2c.170-4C>T (n.170-4C>T)
c.113-4C>T (n.113-4C>T)
c.124C>T (p.Leu42=)
ClinVar dbSNP
12g.110914294G>CCA243562324MYL2c.170-4C>G (n.170-4C>G)
c.113-4C>G (n.113-4C>G)
c.124C>G (p.Leu42Val)
dbSNP gnomAD v4
12g.110914294G=CA2063072814MYL2c.170-4C= (n.170-4C=)
c.113-4C= (n.113-4C=)
c.124C= (p.Leu42=)
12g.110914294G>TCA386698876MYL2c.170-4C>A (n.170-4C>A)
c.113-4C>A (n.113-4C>A)
c.124C>A (p.Leu42Ile)
12g.110914296delCA243562323MYL2c.170-4del (n.170-4del)
c.113-4del (n.113-4del)
c.124del (p.Leu42Ter)
dbSNP
12g.110914296G>ACA386698879MYL2c.170-6C>T (n.170-6C>T)
c.113-6C>T (n.113-6C>T)
c.122C>T (p.Thr41Ile)
12g.110914296G>CCA386698878MYL2c.170-6C>G (n.170-6C>G)
c.113-6C>G (n.113-6C>G)
c.122C>G (p.Thr41Ser)
12g.110914296G>TCA386698877MYL2c.170-6C>A (n.170-6C>A)
c.113-6C>A (n.113-6C>A)
c.122C>A (p.Thr41Asn)
gnomAD v4
12g.110914296_110914297insCAGCAAAGGTGTCTCTCAGATCGTTCTTGTCAATGAAGCCATCCCTGTTCTGGTCCATGACA2797450849MYL2c.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG (n.170-7_170-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG)
c.113-7_113-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG (n.113-7_113-6insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG)
c.121_122insTCATGGACCAGAACAGGGATGGCTTCATTGACAAGAACGATCTGAGAGACACCTTTGCTG (p.Thr41delinsIleMetAspGlnAsnArgAspGlyPheIleAspLysAsnAspLeuArgAspThrPheAlaAla)
12g.110914297T>ACA386698880MYL2c.170-7A>T (n.170-7A>T)
c.113-7A>T (n.113-7A>T)
c.121A>T (p.Thr41Ser)
12g.110914297T>CCA040607MYL2c.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
12g.110914297T>GCA386698881MYL2c.170-7A>C (n.170-7A>C)
c.113-7A>C (n.113-7A>C)
c.121A>C (p.Thr41Pro)
12g.110914297T=CA2063072818MYL2c.170-7A= (n.170-7A=)
c.113-7A= (n.113-7A=)
c.121A= (p.Thr41=)
12g.110914298A>GCA2620917266MYL2c.170-8T>C (n.170-8T>C)
c.113-8T>C (n.113-8T>C)
c.120T>C (p.Pro40=)
gnomAD v4
12g.110914299G>ACA386698882MYL2c.170-9C>T (n.170-9C>T)
c.113-9C>T (n.113-9C>T)
c.119C>T (p.Pro40Leu)
12g.110914299G>CCA386698883MYL2c.170-9C>G (n.170-9C>G)
c.113-9C>G (n.113-9C>G)
c.119C>G (p.Pro40Arg)
12g.110914299G>TCA386698884MYL2c.170-9C>A (n.170-9C>A)
c.113-9C>A (n.113-9C>A)
c.119C>A (p.Pro40His)
12g.110914299_110914300insTGAAGGCCTCCTTAAATTCCTGGATTTGGGTCTGTTCCA2797450852MYL2c.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA (n.170-10_170-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA)
c.113-10_113-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA (n.113-10_113-9insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA)
c.118_119insGAACAGACCCAAATCCAGGAATTTAAGGAGGCCTTCA (p.Pro40ArgfsTer9)
12g.110914300G>ACA386698887MYL2c.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
12g.110914300G>CCA386698885MYL2c.170-10C>G (n.170-10C>G)
c.113-10C>G (n.113-10C>G)
c.118C>G (p.Pro40Ala)
gnomAD v4
12g.110914300G=CA2063072824MYL2c.170-10C= (n.170-10C=)
c.113-10C= (n.113-10C=)
c.118C= (p.Pro40=)
12g.110914300G>TCA386698886MYL2c.170-10C>A (n.170-10C>A)
c.113-10C>A (n.113-10C>A)
c.118C>A (p.Pro40Thr)
12g.110914301A>CCA386698888MYL2c.170-11T>G (n.170-11T>G)
c.113-11T>G (n.113-11T>G)
c.117T>G (p.Phe39Leu)
12g.110914301A>TCA386698889MYL2c.170-11T>A (n.170-11T>A)
c.113-11T>A (n.113-11T>A)
c.117T>A (p.Phe39Leu)

Number of alleles fetched