Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.110914187C>A | CA386698639 | MYL2 | c.273G>T (p.Lys91Asn) c.216G>T (p.Lys72Asn) c.231G>T (p.Lys77Asn) n.104G>T | |
12 | g.110914187C= | CA2063072366 | MYL2 | c.273G= (p.Lys91=) c.216G= (p.Lys72=) c.231G= (p.Lys77=) n.104G= | |
12 | g.110914187C>G | CA386698638 | MYL2 | c.273G>C (p.Lys91Asn) c.216G>C (p.Lys72Asn) c.231G>C (p.Lys77Asn) n.104G>C | |
12 | g.110914187C>T | CA481750987 | MYL2 | c.273G>A (p.Lys91=) c.216G>A (p.Lys72=) c.231G>A (p.Lys77=) n.104G>A | dbSNP gnomAD v4 COSMIC |
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 | 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 |