Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47345814_47346367del | CA2580084293 | MYBPC3 | c.933_1090+396del c.915_1072+396del | ClinVar |
11 | g.47346242_47346313delinsAGCCTCTTTAGCATGCCGCGCAGGTCAGTGACGCCGTACTGGAAGGCGATGCGCTCGTACTCAGATGGGGGT | CA1969339501 | MYBPC3 | c.984_1055delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala328=) c.966_1037delinsACCCCCATCTGAGTACGAGCGCATCGCCTTCCAGTACGGCGTCACTGACCTGCGCGGCATGCTAAAGAGGCT (p.Ala322=) | |
11 | g.47346247_47346317del | CA016227 | MYBPC3 | c.984_1054del (p.Pro329GlnfsTer7) c.966_1036del (p.Pro323GlnfsTer7) | ClinVar dbSNP |
11 | g.47346281T>A | CA380331376 | MYBPC3 | c.1016A>T (p.Gln339Leu) c.998A>T (p.Gln333Leu) | |
11 | g.47346281T>C | CA380331368 | MYBPC3 | c.1016A>G (p.Gln339Arg) c.998A>G (p.Gln333Arg) | |
11 | g.47346281T>G | CA380331371 | MYBPC3 | c.1016A>C (p.Gln339Pro) c.998A>C (p.Gln333Pro) | |
11 | g.47346282G>A | CA009690 | MYBPC3 | c.1015C>T (p.Gln339Ter) c.997C>T (p.Gln333Ter) | ClinVar dbSNP |
11 | g.47346282G>C | CA380331386 | MYBPC3 | c.1015C>G (p.Gln339Glu) c.997C>G (p.Gln333Glu) | |
11 | g.47346282G= | CA1969339608 | MYBPC3 | c.1015C= (p.Gln339=) c.997C= (p.Gln333=) | |
11 | g.47346282G>T | CA380331389 | MYBPC3 | c.1015C>A (p.Gln339Lys) c.997C>A (p.Gln333Lys) | |
11 | g.47346283G>A | CA474220894 | MYBPC3 | c.1014C>T (p.Phe338=) c.996C>T (p.Phe332=) | |
11 | g.47346283G>C | CA380331392 | MYBPC3 | c.1014C>G (p.Phe338Leu) c.996C>G (p.Phe332Leu) | |
11 | g.47346283G>T | CA380331393 | MYBPC3 | c.1014C>A (p.Phe338Leu) c.996C>A (p.Phe332Leu) | |
11 | g.47346284A>C | CA380331396 | MYBPC3 | c.1013T>G (p.Phe338Cys) c.995T>G (p.Phe332Cys) | |
11 | g.47346284A>G | CA380331399 | MYBPC3 | c.1013T>C (p.Phe338Ser) c.995T>C (p.Phe332Ser) | |
11 | g.47346284A>T | CA380331400 | MYBPC3 | c.1013T>A (p.Phe338Tyr) c.995T>A (p.Phe332Tyr) | |
11 | g.47346285A>C | CA380331402 | MYBPC3 | c.1012T>G (p.Phe338Val) c.994T>G (p.Phe332Val) | |
11 | g.47346285A>G | CA380331405 | MYBPC3 | c.1012T>C (p.Phe338Leu) c.994T>C (p.Phe332Leu) | |
11 | g.47346285A>T | CA380331407 | MYBPC3 | c.1012T>A (p.Phe338Ile) c.994T>A (p.Phe332Ile) | |
11 | g.47346286G>A | CA474220899 | MYBPC3 | c.1011C>T (p.Ala337=) c.993C>T (p.Ala331=) | |
11 | g.47346286G>C | CA474220900 | MYBPC3 | c.1011C>G (p.Ala337=) c.993C>G (p.Ala331=) | ClinVar dbSNP |
11 | g.47346286G>T | CA474220901 | MYBPC3 | c.1011C>A (p.Ala337=) c.993C>A (p.Ala331=) | |
11 | g.47346287G>A | CA380331416 | MYBPC3 | c.1010C>T (p.Ala337Val) c.992C>T (p.Ala331Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47346287G>C | CA380331420 | MYBPC3 | c.1010C>G (p.Ala337Gly) c.992C>G (p.Ala331Gly) | COSMIC COSMIC |
11 | g.47346287G= | CA1969339611 | MYBPC3 | c.1010C= (p.Ala337=) c.992C= (p.Ala331=) | |
11 | g.47346287G>T | CA380331413 | MYBPC3 | c.1010C>A (p.Ala337Asp) c.992C>A (p.Ala331Asp) | |
11 | g.47346288C>A | CA380331426 | MYBPC3 | c.1009G>T (p.Ala337Ser) c.991G>T (p.Ala331Ser) | |
11 | g.47346288C= | CA1969339615 | MYBPC3 | c.1009G= (p.Ala337=) c.991G= (p.Ala331=) | |
11 | g.47346288C>G | CA380331428 | MYBPC3 | c.1009G>C (p.Ala337Pro) c.991G>C (p.Ala331Pro) | |
11 | g.47346288C>T | CA042017 | MYBPC3 | c.1009G>A (p.Ala337Thr) c.991G>A (p.Ala331Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346289G>A | CA009683 | MYBPC3 | c.1008C>T (p.Ile336=) c.990C>T (p.Ile330=) | ClinVar dbSNP gnomAD v4 |
11 | g.47346289G>C | CA380331441 | MYBPC3 | c.1008C>G (p.Ile336Met) c.990C>G (p.Ile330Met) | ClinVar dbSNP |
11 | g.47346289G= | CA1969339618 | MYBPC3 | c.1008C= (p.Ile336=) c.990C= (p.Ile330=) | |
11 | g.47346289G>T | CA474220904 | MYBPC3 | c.1008C>A (p.Ile336=) c.990C>A (p.Ile330=) | dbSNP gnomAD v2 |
11 | g.47346290A>C | CA380331446 | MYBPC3 | c.1007T>G (p.Ile336Ser) c.989T>G (p.Ile330Ser) | |
11 | g.47346290A>G | CA380331444 | MYBPC3 | c.1007T>C (p.Ile336Thr) c.989T>C (p.Ile330Thr) | |
11 | g.47346290A>T | CA380331443 | MYBPC3 | c.1007T>A (p.Ile336Asn) c.989T>A (p.Ile330Asn) | |
11 | g.47346291T>A | CA042000 | MYBPC3 | c.1006A>T (p.Ile336Phe) c.988A>T (p.Ile330Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47346291T>C | CA380331451 | MYBPC3 | c.1006A>G (p.Ile336Val) c.988A>G (p.Ile330Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47346291T>G | CA380331453 | MYBPC3 | c.1006A>C (p.Ile336Leu) c.988A>C (p.Ile330Leu) | |
11 | g.47346291T= | CA1969339620 | MYBPC3 | c.1006A= (p.Ile336=) c.988A= (p.Ile330=) | |
11 | g.47346292G>A | CA474220910 | MYBPC3 | c.1005C>T (p.Arg335=) c.987C>T (p.Arg329=) | |
11 | g.47346292G>C | CA474220908 | MYBPC3 | c.1005C>G (p.Arg335=) c.987C>G (p.Arg329=) | |
11 | g.47346292G>T | CA474220909 | MYBPC3 | c.1005C>A (p.Arg335=) c.987C>A (p.Arg329=) | |
11 | g.47346293C>A | CA380331454 | MYBPC3 | c.1004G>T (p.Arg335Leu) c.986G>T (p.Arg329Leu) | gnomAD v4 |
11 | g.47346293C>G | CA380331458 | MYBPC3 | c.1004G>C (p.Arg335Pro) c.986G>C (p.Arg329Pro) | |
11 | g.47346293C>T | CA380331459 | MYBPC3 | c.1004G>A (p.Arg335His) c.986G>A (p.Arg329His) | gnomAD v4 |
11 | g.47346294G>A | CA009677 | MYBPC3 | c.1003C>T (p.Arg335Cys) c.985C>T (p.Arg329Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47346294G>C | CA380331461 | MYBPC3 | c.1003C>G (p.Arg335Gly) c.985C>G (p.Arg329Gly) | |
11 | g.47346294G= | CA1969339623 | MYBPC3 | c.1003C= (p.Arg335=) c.985C= (p.Arg329=) |