Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47345814_47346367del | CA2580084293 | MYBPC3 | c.933_1090+396del c.915_1072+396del | ClinVar |
11 | g.47346219_47346221del | CA042311 | MYBPC3 | c.1082_1084del (p.Lys361del) c.1064_1066del (p.Lys355del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346217C>A | CA380330958 | MYBPC3 | c.1080G>T (p.Lys360Asn) c.1062G>T (p.Lys354Asn) | |
11 | g.47346217C= | CA1969339426 | MYBPC3 | c.1080G= (p.Lys360=) c.1062G= (p.Lys354=) | |
11 | g.47346217C>G | CA009741 | MYBPC3 | c.1080G>C (p.Lys360Asn) c.1062G>C (p.Lys354Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346217C>T | CA474220757 | MYBPC3 | c.1080G>A (p.Lys360=) c.1062G>A (p.Lys354=) | |
11 | g.47346218T>A | CA380330963 | MYBPC3 | c.1079A>T (p.Lys360Met) c.1061A>T (p.Lys354Met) | |
11 | g.47346218T>C | CA380330964 | MYBPC3 | c.1079A>G (p.Lys360Arg) c.1061A>G (p.Lys354Arg) | gnomAD v4 |
11 | g.47346218T>G | CA380330969 | MYBPC3 | c.1079A>C (p.Lys360Thr) c.1061A>C (p.Lys354Thr) | |
11 | g.47346219T>A | CA380330972 | MYBPC3 | c.1078A>T (p.Lys360Ter) c.1060A>T (p.Lys354Ter) | |
11 | g.47346219T>C | CA380330974 | MYBPC3 | c.1078A>G (p.Lys360Glu) c.1060A>G (p.Lys354Glu) | |
11 | g.47346219T>G | CA380330978 | MYBPC3 | c.1078A>C (p.Lys360Gln) c.1060A>C (p.Lys354Gln) | dbSNP gnomAD v2 |
11 | g.47346219T= | CA1969339427 | MYBPC3 | c.1078A= (p.Lys360=) c.1060A= (p.Lys354=) | |
11 | g.47346219_47346222delinsTCTC | CA1969339428 | MYBPC3 | c.1075_1078delinsGAGA (p.Glu359=) c.1057_1060delinsGAGA (p.Glu353=) | |
11 | g.47346220C>A | CA380330980 | MYBPC3 | c.1077G>T (p.Glu359Asp) c.1059G>T (p.Glu353Asp) | |
11 | g.47346220C>G | CA380330982 | MYBPC3 | c.1077G>C (p.Glu359Asp) c.1059G>C (p.Glu353Asp) | |
11 | g.47346220C>T | CA474220767 | MYBPC3 | c.1077G>A (p.Glu359=) c.1059G>A (p.Glu353=) | ClinVar gnomAD v4 COSMIC COSMIC |
11 | g.47346220_47346222del | CA1969339430 | MYBPC3 | c.1075_1077del (p.Glu359del) c.1057_1059del (p.Glu353del) | dbSNP |
11 | g.47346221T>A | CA380330993 | MYBPC3 | c.1076A>T (p.Glu359Val) c.1058A>T (p.Glu353Val) | |
11 | g.47346221T>C | CA380330989 | MYBPC3 | c.1076A>G (p.Glu359Gly) c.1058A>G (p.Glu353Gly) | ClinVar dbSNP |
11 | g.47346221T>G | CA380330988 | MYBPC3 | c.1076A>C (p.Glu359Ala) c.1058A>C (p.Glu353Ala) | |
11 | g.47346221T= | CA1969339432 | MYBPC3 | c.1076A= (p.Glu359=) c.1058A= (p.Glu353=) | |
11 | g.47346222C>A | CA10576892 | MYBPC3 | c.1075G>T (p.Glu359Ter) c.1057G>T (p.Glu353Ter) | ClinVar dbSNP |
11 | g.47346222C= | CA1969339438 | MYBPC3 | c.1075G= (p.Glu359=) c.1057G= (p.Glu353=) | |
11 | g.47346222C>G | CA380330998 | MYBPC3 | c.1075G>C (p.Glu359Gln) c.1057G>C (p.Glu353Gln) | |
11 | g.47346222C>T | CA380331001 | MYBPC3 | c.1075G>A (p.Glu359Lys) c.1057G>A (p.Glu353Lys) | dbSNP gnomAD v4 |
11 | g.47346223A= | CA1969339444 | MYBPC3 | c.1074T= (p.Asp358=) c.1056T= (p.Asp352=) | |
11 | g.47346223A>C | CA380331003 | MYBPC3 | c.1074T>G (p.Asp358Glu) c.1056T>G (p.Asp352Glu) | |
11 | g.47346223A>G | CA474220774 | MYBPC3 | c.1074T>C (p.Asp358=) c.1056T>C (p.Asp352=) | dbSNP gnomAD v2 |
11 | g.47346223A>T | CA042264 | MYBPC3 | c.1074T>A (p.Asp358Glu) c.1056T>A (p.Asp352Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346224T>A | CA380331010 | MYBPC3 | c.1073A>T (p.Asp358Val) c.1055A>T (p.Asp352Val) | |
11 | g.47346224T>C | CA380331007 | MYBPC3 | c.1073A>G (p.Asp358Gly) c.1055A>G (p.Asp352Gly) | |
11 | g.47346224T>G | CA380331005 | MYBPC3 | c.1073A>C (p.Asp358Ala) c.1055A>C (p.Asp352Ala) | COSMIC COSMIC |
11 | g.47346224_47346228delinsTCGCG | CA1969339447 | MYBPC3 | c.1069_1073delinsCGCGA (p.Arg357=) c.1051_1055delinsCGCGA (p.Arg351=) | |
11 | g.47346225C>A | CA380331012 | MYBPC3 | c.1072G>T (p.Asp358Tyr) c.1054G>T (p.Asp352Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346225C= | CA1969339453 | MYBPC3 | c.1072G= (p.Asp358=) c.1054G= (p.Asp352=) | |
11 | g.47346225C>G | CA380331014 | MYBPC3 | c.1072G>C (p.Asp358His) c.1054G>C (p.Asp352His) | |
11 | g.47346225C>T | CA042250 | MYBPC3 | c.1072G>A (p.Asp358Asn) c.1054G>A (p.Asp352Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346225_47346228delinsGC | CA009733 | MYBPC3 | c.1069_1072delinsGC (p.Arg357AlafsTer2) c.1051_1054delinsGC (p.Arg351AlafsTer2) | ClinVar dbSNP |
11 | g.47346226G>A | CA042236 | MYBPC3 | c.1071C>T (p.Arg357=) c.1053C>T (p.Arg351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346226G>C | CA474220780 | MYBPC3 | c.1071C>G (p.Arg357=) c.1053C>G (p.Arg351=) | dbSNP |
11 | g.47346226G= | CA1969339459 | MYBPC3 | c.1071C= (p.Arg357=) c.1053C= (p.Arg351=) | |
11 | g.47346226G>T | CA042214 | MYBPC3 | c.1071C>A (p.Arg357=) c.1053C>A (p.Arg351=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346227C>A | CA380331033 | MYBPC3 | c.1070G>T (p.Arg357Leu) c.1052G>T (p.Arg351Leu) | |
11 | g.47346227C= | CA1969339465 | MYBPC3 | c.1070G= (p.Arg357=) c.1052G= (p.Arg351=) | |
11 | g.47346227C>G | CA380331029 | MYBPC3 | c.1070G>C (p.Arg357Pro) c.1052G>C (p.Arg351Pro) | |
11 | g.47346227C>T | CA009737 | MYBPC3 | c.1070G>A (p.Arg357His) c.1052G>A (p.Arg351His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346228G>A | CA380331037 | MYBPC3 | c.1069C>T (p.Arg357Cys) c.1051C>T (p.Arg351Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.47346228G>C | CA380331038 | MYBPC3 | c.1069C>G (p.Arg357Gly) c.1051C>G (p.Arg351Gly) | |
11 | g.47346228G= | CA1969339469 | MYBPC3 | c.1069C= (p.Arg357=) c.1051C= (p.Arg351=) |