Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110914188T>A | CA386698640 | MYL2 | c.272A>T (p.Lys91Met) c.215A>T (p.Lys72Met) c.230A>T (p.Lys77Met) n.103A>T | |
12 | g.110914188T>C | CA386698641 | MYL2 | c.272A>G (p.Lys91Arg) c.215A>G (p.Lys72Arg) c.230A>G (p.Lys77Arg) n.103A>G | |
12 | g.110914188T>G | CA386698642 | MYL2 | c.272A>C (p.Lys91Thr) c.215A>C (p.Lys72Thr) c.230A>C (p.Lys77Thr) n.103A>C | |
12 | g.110914189T>A | CA386698643 | MYL2 | c.271A>T (p.Lys91Ter) c.214A>T (p.Lys72Ter) c.229A>T (p.Lys77Ter) n.102A>T | |
12 | g.110914189T>C | CA386698644 | MYL2 | c.271A>G (p.Lys91Glu) c.214A>G (p.Lys72Glu) c.229A>G (p.Lys77Glu) n.102A>G | |
12 | g.110914189T>G | CA386698645 | MYL2 | c.271A>C (p.Lys91Gln) c.214A>C (p.Lys72Gln) c.229A>C (p.Lys77Gln) n.102A>C | gnomAD v4 |
12 | g.110914190A>C | CA481750988 | MYL2 | c.270T>G (p.Leu90=) c.213T>G (p.Leu71=) c.228T>G (p.Leu76=) n.101T>G | |
12 | g.110914190A>G | CA481750989 | MYL2 | c.270T>C (p.Leu90=) c.213T>C (p.Leu71=) c.228T>C (p.Leu76=) n.101T>C | |
12 | g.110914190A>T | CA481750990 | MYL2 | c.270T>A (p.Leu90=) c.213T>A (p.Leu71=) c.228T>A (p.Leu76=) n.101T>A | |
12 | g.110914191A>C | CA386698646 | MYL2 | c.269T>G (p.Leu90Arg) c.212T>G (p.Leu71Arg) c.227T>G (p.Leu76Arg) n.100T>G | |
12 | g.110914191A>G | CA386698647 | MYL2 | c.269T>C (p.Leu90Pro) c.212T>C (p.Leu71Pro) c.227T>C (p.Leu76Pro) n.100T>C | |
12 | g.110914191A>T | CA386698648 | MYL2 | c.269T>A (p.Leu90His) c.212T>A (p.Leu71His) c.227T>A (p.Leu76His) n.100T>A | |
12 | g.110914192G>A | CA386698649 | MYL2 | c.268C>T (p.Leu90Phe) c.211C>T (p.Leu71Phe) c.226C>T (p.Leu76Phe) n.99C>T | |
12 | g.110914192G>C | CA386698650 | MYL2 | c.268C>G (p.Leu90Val) c.211C>G (p.Leu71Val) c.226C>G (p.Leu76Val) n.99C>G | |
12 | g.110914192G>T | CA386698651 | MYL2 | c.268C>A (p.Leu90Ile) c.211C>A (p.Leu71Ile) c.226C>A (p.Leu76Ile) n.99C>A | |
12 | g.110914193T>A | CA386698652 | MYL2 | c.267A>T (p.Lys89Asn) c.210A>T (p.Lys70Asn) c.225A>T (p.Lys75Asn) n.98A>T | |
12 | g.110914193T>C | CA481750991 | MYL2 | c.267A>G (p.Lys89=) c.210A>G (p.Lys70=) c.225A>G (p.Lys75=) n.98A>G | gnomAD v4 |
12 | g.110914193T>G | CA386698653 | MYL2 | c.267A>C (p.Lys89Asn) c.210A>C (p.Lys70Asn) c.225A>C (p.Lys75Asn) n.98A>C | |
12 | g.110914194T>A | CA386698654 | MYL2 | c.266A>T (p.Lys89Ile) c.209A>T (p.Lys70Ile) c.224A>T (p.Lys75Ile) n.97A>T | |
12 | g.110914194T>C | CA386698655 | MYL2 | c.266A>G (p.Lys89Arg) c.209A>G (p.Lys70Arg) c.224A>G (p.Lys75Arg) n.97A>G | |
12 | g.110914194T>G | CA386698656 | MYL2 | c.266A>C (p.Lys89Thr) c.209A>C (p.Lys70Thr) c.224A>C (p.Lys75Thr) n.97A>C | |
12 | g.110914195T>A | CA386698657 | MYL2 | c.265A>T (p.Lys89Ter) c.208A>T (p.Lys70Ter) c.223A>T (p.Lys75Ter) n.96A>T | |
12 | g.110914195T>C | CA386698658 | MYL2 | c.265A>G (p.Lys89Glu) c.208A>G (p.Lys70Glu) c.223A>G (p.Lys75Glu) n.96A>G | |
12 | g.110914195T>G | CA386698659 | MYL2 | c.265A>C (p.Lys89Gln) c.208A>C (p.Lys70Gln) c.223A>C (p.Lys75Gln) n.96A>C | |
12 | g.110914196C>A | CA386698661 | MYL2 | c.264G>T (p.Glu88Asp) c.207G>T (p.Glu69Asp) c.222G>T (p.Glu74Asp) n.95G>T | COSMIC |
12 | g.110914196C= | CA2063072371 | MYL2 | c.264G= (p.Glu88=) c.207G= (p.Glu69=) c.222G= (p.Glu74=) n.95G= | |
12 | g.110914196C>G | CA386698660 | MYL2 | c.264G>C (p.Glu88Asp) c.207G>C (p.Glu69Asp) c.222G>C (p.Glu74Asp) n.95G>C | |
12 | g.110914196C>T | CA481750992 | MYL2 | c.264G>A (p.Glu88=) c.207G>A (p.Glu69=) c.222G>A (p.Glu74=) n.95G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914197T>A | CA386698662 | MYL2 | c.263A>T (p.Glu88Val) c.206A>T (p.Glu69Val) c.221A>T (p.Glu74Val) n.94A>T | |
12 | g.110914197T>C | CA386698663 | MYL2 | c.263A>G (p.Glu88Gly) c.206A>G (p.Glu69Gly) c.221A>G (p.Glu74Gly) n.94A>G | |
12 | g.110914197T>G | CA386698664 | MYL2 | c.263A>C (p.Glu88Ala) c.206A>C (p.Glu69Ala) c.221A>C (p.Glu74Ala) n.94A>C | ClinVar gnomAD v4 |
12 | g.110914198C>A | CA386698665 | MYL2 | c.262G>T (p.Glu88Ter) c.205G>T (p.Glu69Ter) c.220G>T (p.Glu74Ter) n.93G>T | |
12 | g.110914198C= | CA2063072378 | MYL2 | c.262G= (p.Glu88=) c.205G= (p.Glu69=) c.220G= (p.Glu74=) n.93G= | |
12 | g.110914198C>G | CA386698666 | MYL2 | c.262G>C (p.Glu88Gln) c.205G>C (p.Glu69Gln) c.220G>C (p.Glu74Gln) n.93G>C | |
12 | g.110914198C>T | CA352041 | MYL2 | c.262G>A (p.Glu88Lys) c.205G>A (p.Glu69Lys) c.220G>A (p.Glu74Lys) n.93G>A | ClinVar dbSNP COSMIC |
12 | g.110914199C>A | CA481750994 | MYL2 | c.261G>T (p.Gly87=) c.204G>T (p.Gly68=) c.219G>T (p.Gly73=) n.92G>T | |
12 | g.110914199C>G | CA481750996 | MYL2 | c.261G>C (p.Gly87=) c.204G>C (p.Gly68=) c.219G>C (p.Gly73=) n.92G>C | |
12 | g.110914199C>T | CA481750995 | MYL2 | c.261G>A (p.Gly87=) c.204G>A (p.Gly68=) c.219G>A (p.Gly73=) n.92G>A | ClinVar gnomAD v4 COSMIC |
12 | g.110914200C>A | CA386698667 | MYL2 | c.260G>T (p.Gly87Val) c.203G>T (p.Gly68Val) c.218G>T (p.Gly73Val) n.91G>T | |
12 | g.110914200C= | CA2063072387 | MYL2 | c.260G= (p.Gly87=) c.203G= (p.Gly68=) c.218G= (p.Gly73=) n.91G= | |
12 | g.110914200C>G | CA009968 | MYL2 | c.260G>C (p.Gly87Ala) c.203G>C (p.Gly68Ala) c.218G>C (p.Gly73Ala) n.91G>C | ClinVar dbSNP |
12 | g.110914200C>T | CA386698668 | MYL2 | c.260G>A (p.Gly87Glu) c.203G>A (p.Gly68Glu) c.218G>A (p.Gly73Glu) n.91G>A | ClinVar dbSNP |
12 | g.110914200_110914204delinsCCAAA | CA2063072393 | MYL2 | c.256_260delinsTTTGG (p.Phe86=) c.199_203delinsTTTGG (p.Phe67=) c.214_218delinsTTTGG (p.Phe72=) n.87_91delinsTTTGG | |
12 | g.110914201C>A | CA386698669 | MYL2 | c.259G>T (p.Gly87Trp) c.202G>T (p.Gly68Trp) c.217G>T (p.Gly73Trp) n.90G>T | COSMIC |
12 | g.110914201C>G | CA386698670 | MYL2 | c.259G>C (p.Gly87Arg) c.202G>C (p.Gly68Arg) c.217G>C (p.Gly73Arg) n.90G>C | ClinVar |
12 | g.110914201C>T | CA386698671 | MYL2 | c.259G>A (p.Gly87Arg) c.202G>A (p.Gly68Arg) c.217G>A (p.Gly73Arg) n.90G>A | ClinVar dbSNP |
12 | g.110914203_110914206del | CA951840368 | MYL2 | c.256_259del (p.Phe86GlyfsTer28) c.199_202del (p.Phe67GlyfsTer28) c.214_217del (p.Phe72GlyfsTer28) n.87_90del | dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914202A>C | CA386698672 | MYL2 | c.258T>G (p.Phe86Leu) c.201T>G (p.Phe67Leu) c.216T>G (p.Phe72Leu) n.89T>G | |
12 | g.110914202A>G | CA481750998 | MYL2 | c.258T>C (p.Phe86=) c.201T>C (p.Phe67=) c.216T>C (p.Phe72=) n.89T>C | |
12 | g.110914202A>T | CA386698673 | MYL2 | c.258T>A (p.Phe86Leu) c.201T>A (p.Phe67Leu) c.216T>A (p.Phe72Leu) n.89T>A | |
12 | g.110914203A= | CA2063072403 | MYL2 | c.257T= (p.Phe86=) c.200T= (p.Phe67=) c.215T= (p.Phe72=) n.88T= | |
12 | g.110914203A>C | CA386698674 | MYL2 | c.257T>G (p.Phe86Cys) c.200T>G (p.Phe67Cys) c.215T>G (p.Phe72Cys) n.88T>G | |
12 | g.110914203A>G | CA009962 | MYL2 | c.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 |
12 | g.110914203A>T | CA386698675 | MYL2 | c.257T>A (p.Phe86Tyr) c.200T>A (p.Phe67Tyr) c.215T>A (p.Phe72Tyr) n.88T>A | |
12 | g.110914204A= | CA2063072410 | MYL2 | c.256T= (p.Phe86=) c.199T= (p.Phe67=) c.214T= (p.Phe72=) n.87T= | |
12 | g.110914204A>C | CA386698676 | MYL2 | c.256T>G (p.Phe86Val) c.199T>G (p.Phe67Val) c.214T>G (p.Phe72Val) n.87T>G | |
12 | g.110914204A>G | CA040901 | MYL2 | c.256T>C (p.Phe86Leu) c.199T>C (p.Phe67Leu) c.214T>C (p.Phe72Leu) n.87T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914204A>T | CA386698677 | MYL2 | c.256T>A (p.Phe86Ile) c.199T>A (p.Phe67Ile) c.214T>A (p.Phe72Ile) n.87T>A | |
12 | g.110914205C>A | CA386698679 | MYL2 | c.255G>T (p.Met85Ile) c.198G>T (p.Met66Ile) c.213G>T (p.Met71Ile) n.86G>T | |
12 | g.110914205C= | CA2063072419 | MYL2 | c.255G= (p.Met85=) c.198G= (p.Met66=) c.213G= (p.Met71=) n.86G= | |
12 | g.110914205C>G | CA386698680 | MYL2 | c.255G>C (p.Met85Ile) c.198G>C (p.Met66Ile) c.213G>C (p.Met71Ile) n.86G>C | |
12 | g.110914205C>T | CA386698678 | MYL2 | c.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 |
12 | g.110914206A= | CA2063072430 | MYL2 | c.254T= (p.Met85=) c.197T= (p.Met66=) c.212T= (p.Met71=) n.85T= | |
12 | g.110914206A>C | CA386698682 | MYL2 | c.254T>G (p.Met85Arg) c.197T>G (p.Met66Arg) c.212T>G (p.Met71Arg) n.85T>G | |
12 | g.110914206A>G | CA386698681 | MYL2 | c.254T>C (p.Met85Thr) c.197T>C (p.Met66Thr) c.212T>C (p.Met71Thr) n.85T>C | ClinVar dbSNP gnomAD v4 |
12 | g.110914206A>T | CA386698683 | MYL2 | c.254T>A (p.Met85Lys) c.197T>A (p.Met66Lys) c.212T>A (p.Met71Lys) n.85T>A | |
12 | g.110914207T>A | CA386698684 | MYL2 | c.253A>T (p.Met85Leu) c.196A>T (p.Met66Leu) c.211A>T (p.Met71Leu) n.84A>T | |
12 | g.110914207T>C | CA386698686 | MYL2 | c.253A>G (p.Met85Val) c.196A>G (p.Met66Val) c.211A>G (p.Met71Val) n.84A>G | ClinVar dbSNP |
12 | g.110914207T>G | CA386698685 | MYL2 | c.253A>C (p.Met85Leu) c.196A>C (p.Met66Leu) c.211A>C (p.Met71Leu) n.84A>C | |
12 | g.110914207T= | CA2063072436 | MYL2 | c.253A= (p.Met85=) c.196A= (p.Met66=) c.211A= (p.Met71=) n.84A= | |
12 | g.110914208T>A | CA481751001 | MYL2 | c.252A>T (p.Thr84=) c.195A>T (p.Thr65=) c.210A>T (p.Thr70=) n.83A>T | |
12 | g.110914208T>C | CA481751000 | MYL2 | c.252A>G (p.Thr84=) c.195A>G (p.Thr65=) c.210A>G (p.Thr70=) n.83A>G | |
12 | g.110914208T>G | CA481750999 | MYL2 | c.252A>C (p.Thr84=) c.195A>C (p.Thr65=) c.210A>C (p.Thr70=) n.83A>C | dbSNP |
12 | g.110914208T= | CA2063072443 | MYL2 | c.252A= (p.Thr84=) c.195A= (p.Thr65=) c.210A= (p.Thr70=) n.83A= | |
12 | g.110914209G>A | CA386698687 | MYL2 | c.251C>T (p.Thr84Ile) c.194C>T (p.Thr65Ile) c.209C>T (p.Thr70Ile) n.82C>T | |
12 | g.110914209G>C | CA386698688 | MYL2 | c.251C>G (p.Thr84Arg) c.194C>G (p.Thr65Arg) c.209C>G (p.Thr70Arg) n.82C>G | |
12 | g.110914209G>T | CA386698689 | MYL2 | c.251C>A (p.Thr84Lys) c.194C>A (p.Thr65Lys) c.209C>A (p.Thr70Lys) n.82C>A | |
12 | g.110914210T>A | CA386698690 | MYL2 | c.250A>T (p.Thr84Ser) c.193A>T (p.Thr65Ser) c.208A>T (p.Thr70Ser) n.81A>T | |
12 | g.110914210T>C | CA386698691 | MYL2 | c.250A>G (p.Thr84Ala) c.193A>G (p.Thr65Ala) c.208A>G (p.Thr70Ala) n.81A>G | |
12 | g.110914210T>G | CA386698692 | MYL2 | c.250A>C (p.Thr84Pro) c.193A>C (p.Thr65Pro) c.208A>C (p.Thr70Pro) n.81A>C | |
12 | g.110914211G>A | CA481751002 | MYL2 | c.249C>T (p.Leu83=) c.192C>T (p.Leu64=) c.207C>T (p.Leu69=) n.80C>T | ClinVar dbSNP gnomAD v4 |
12 | g.110914211G>C | CA481751003 | MYL2 | c.249C>G (p.Leu83=) c.192C>G (p.Leu64=) c.207C>G (p.Leu69=) n.80C>G | |
12 | g.110914211G= | CA2063072446 | MYL2 | c.249C= (p.Leu83=) c.192C= (p.Leu64=) c.207C= (p.Leu69=) n.80C= | |
12 | g.110914211G>T | CA481751004 | MYL2 | c.249C>A (p.Leu83=) c.192C>A (p.Leu64=) c.207C>A (p.Leu69=) n.80C>A | |
12 | g.110914212A>C | CA386698693 | MYL2 | c.248T>G (p.Leu83Arg) c.191T>G (p.Leu64Arg) c.206T>G (p.Leu69Arg) n.79T>G | |
12 | g.110914212A>G | CA386698694 | MYL2 | c.248T>C (p.Leu83Pro) c.191T>C (p.Leu64Pro) c.206T>C (p.Leu69Pro) n.79T>C | |
12 | g.110914212A>T | CA386698695 | MYL2 | c.248T>A (p.Leu83His) c.191T>A (p.Leu64His) c.206T>A (p.Leu69His) n.79T>A | |
12 | g.110914213G>A | CA386698696 | MYL2 | c.247C>T (p.Leu83Phe) c.190C>T (p.Leu64Phe) c.205C>T (p.Leu69Phe) n.78C>T | ClinVar dbSNP gnomAD v4 |
12 | g.110914213G>C | CA386698697 | MYL2 | c.247C>G (p.Leu83Val) c.190C>G (p.Leu64Val) c.205C>G (p.Leu69Val) n.78C>G | ClinVar dbSNP |
12 | g.110914213G= | CA2063072450 | MYL2 | c.247C= (p.Leu83=) c.190C= (p.Leu64=) c.205C= (p.Leu69=) n.78C= | |
12 | g.110914213G>T | CA386698698 | MYL2 | c.247C>A (p.Leu83Ile) c.190C>A (p.Leu64Ile) c.205C>A (p.Leu69Ile) n.78C>A | |
12 | g.110914214G>A | CA481751005 | MYL2 | c.246C>T (p.Phe82=) c.189C>T (p.Phe63=) c.204C>T (p.Phe68=) n.77C>T | |
12 | g.110914214G>C | CA386698699 | MYL2 | c.246C>G (p.Phe82Leu) c.189C>G (p.Phe63Leu) c.204C>G (p.Phe68Leu) n.77C>G | gnomAD v4 |
12 | g.110914214G>T | CA386698700 | MYL2 | c.246C>A (p.Phe82Leu) c.189C>A (p.Phe63Leu) c.204C>A (p.Phe68Leu) n.77C>A | |
12 | g.110914215A>C | CA386698701 | MYL2 | c.245T>G (p.Phe82Cys) c.188T>G (p.Phe63Cys) c.203T>G (p.Phe68Cys) n.76T>G | |
12 | g.110914215A>G | CA386698702 | MYL2 | c.245T>C (p.Phe82Ser) c.188T>C (p.Phe63Ser) c.203T>C (p.Phe68Ser) n.76T>C | |
12 | g.110914215A>T | CA386698703 | MYL2 | c.245T>A (p.Phe82Tyr) c.188T>A (p.Phe63Tyr) c.203T>A (p.Phe68Tyr) n.76T>A | |
12 | g.110914216A>C | CA386698704 | MYL2 | c.244T>G (p.Phe82Val) c.187T>G (p.Phe63Val) c.202T>G (p.Phe68Val) n.75T>G | |
12 | g.110914216A>G | CA386698705 | MYL2 | c.244T>C (p.Phe82Leu) c.187T>C (p.Phe63Leu) c.202T>C (p.Phe68Leu) n.75T>C | |
12 | g.110914216A>T | CA386698706 | MYL2 | c.244T>A (p.Phe82Ile) c.187T>A (p.Phe63Ile) c.202T>A (p.Phe68Ile) n.75T>A | |
12 | g.110914217C>A | CA009955 | MYL2 | c.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 |
12 | g.110914217C= | CA2063072458 | MYL2 | c.243G= (p.Val81=) c.186G= (p.Val62=) c.201G= (p.Val67=) n.74G= | |
12 | g.110914217C>G | CA481751006 | MYL2 | c.243G>C (p.Val81=) c.186G>C (p.Val62=) c.201G>C (p.Val67=) n.74G>C | |
12 | g.110914217C>T | CA481751007 | MYL2 | c.243G>A (p.Val81=) c.186G>A (p.Val62=) c.201G>A (p.Val67=) n.74G>A | |
12 | g.110914218A>C | CA386698707 | MYL2 | c.242T>G (p.Val81Gly) c.185T>G (p.Val62Gly) c.200T>G (p.Val67Gly) n.73T>G | |
12 | g.110914218A>G | CA386698708 | MYL2 | c.242T>C (p.Val81Ala) c.185T>C (p.Val62Ala) c.200T>C (p.Val67Ala) n.73T>C | COSMIC |
12 | g.110914218A>T | CA386698709 | MYL2 | c.242T>A (p.Val81Glu) c.185T>A (p.Val62Glu) c.200T>A (p.Val67Glu) n.73T>A | |
12 | g.110914219C>A | CA386698710 | MYL2 | c.241G>T (p.Val81Leu) c.184G>T (p.Val62Leu) c.199G>T (p.Val67Leu) n.72G>T | |
12 | g.110914219C= | CA2063072468 | MYL2 | c.241G= (p.Val81=) c.184G= (p.Val62=) c.199G= (p.Val67=) n.72G= | |
12 | g.110914219C>G | CA386698711 | MYL2 | c.241G>C (p.Val81Leu) c.184G>C (p.Val62Leu) c.199G>C (p.Val67Leu) n.72G>C | |
12 | g.110914219C>T | CA040867 | MYL2 | c.241G>A (p.Val81Met) c.184G>A (p.Val62Met) c.199G>A (p.Val67Met) n.72G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.110914219_110914220delinsCA | CA2063072474 | MYL2 | c.240_241delinsTG (p.Thr80=) c.183_184delinsTG (p.Thr61=) c.198_199delinsTG (p.Thr66=) n.71_72delinsTG | |
12 | g.110914219_110914222delinsCAGT | CA2063072470 | MYL2 | c.238_241delinsACTG (p.Thr80=) c.181_184delinsACTG (p.Thr61=) c.196_199delinsACTG (p.Thr66=) n.69_72delinsACTG | |
12 | g.110914220del | CA913188516 | MYL2 | c.240del (p.Val81CysfsTer?) c.183del (p.Val62CysfsTer?) c.198del (p.Val67CysfsTer?) n.71del | ClinVar dbSNP |
12 | g.110914220A= | CA2063072485 | MYL2 | c.240T= (p.Thr80=) c.183T= (p.Thr61=) c.198T= (p.Thr66=) n.71T= | |
12 | g.110914220A>C | CA481751008 | MYL2 | c.240T>G (p.Thr80=) c.183T>G (p.Thr61=) c.198T>G (p.Thr66=) n.71T>G | |
12 | g.110914220A>G | CA481751009 | MYL2 | c.240T>C (p.Thr80=) c.183T>C (p.Thr61=) c.198T>C (p.Thr66=) n.71T>C | |
12 | g.110914220A>T | CA243562226 | MYL2 | c.240T>A (p.Thr80=) c.183T>A (p.Thr61=) c.198T>A (p.Thr66=) n.71T>A | ClinVar dbSNP |
12 | g.110914221_110914223del | CA607329951 | MYL2 | c.238_240del (p.Thr80del) c.181_183del (p.Thr61del) c.196_198del (p.Thr66del) n.69_71del | dbSNP gnomAD v2 gnomAD v4 |
12 | g.110914221G>A | CA386698712 | MYL2 | c.239C>T (p.Thr80Ile) c.182C>T (p.Thr61Ile) c.197C>T (p.Thr66Ile) n.70C>T | |
12 | g.110914221G>C | CA386698713 | MYL2 | c.239C>G (p.Thr80Ser) c.182C>G (p.Thr61Ser) c.197C>G (p.Thr66Ser) n.70C>G | |
12 | g.110914221G= | CA2063072492 | MYL2 | c.239C= (p.Thr80=) c.182C= (p.Thr61=) c.197C= (p.Thr66=) n.70C= | |
12 | g.110914221G>T | CA009949 | MYL2 | c.239C>A (p.Thr80Asn) c.182C>A (p.Thr61Asn) c.197C>A (p.Thr66Asn) n.70C>A | ClinVar dbSNP |
12 | g.110914222T>A | CA386698716 | MYL2 | c.238A>T (p.Thr80Ser) c.181A>T (p.Thr61Ser) c.196A>T (p.Thr66Ser) n.69A>T | |
12 | g.110914222T>C | CA386698715 | MYL2 | c.238A>G (p.Thr80Ala) c.181A>G (p.Thr61Ala) c.196A>G (p.Thr66Ala) n.69A>G | |
12 | g.110914222T>G | CA386698714 | MYL2 | c.238A>C (p.Thr80Pro) c.181A>C (p.Thr61Pro) c.196A>C (p.Thr66Pro) n.69A>C | |
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.110914223A= | CA2063072505 | MYL2 | c.237T= (p.Phe79=) c.180T= (p.Phe60=) c.195T= (p.Phe65=) n.68T= | |
12 | g.110914223A>C | CA386698717 | MYL2 | c.237T>G (p.Phe79Leu) c.180T>G (p.Phe60Leu) c.195T>G (p.Phe65Leu) n.68T>G | |
12 | g.110914223A>G | CA009943 | MYL2 | c.237T>C (p.Phe79=) c.180T>C (p.Phe60=) c.195T>C (p.Phe65=) n.68T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.110914223A>T | CA386698718 | MYL2 | c.237T>A (p.Phe79Leu) c.180T>A (p.Phe60Leu) c.195T>A (p.Phe65Leu) n.68T>A | |
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 |