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.47346255_47346259dup | CA273429 | MYBPC3 | c.1038_1042dup (p.Met348ThrfsTer4) c.1020_1024dup (p.Met342ThrfsTer4) | ClinVar dbSNP ExAC gnomAD v2 |
11 | g.47346258C>A | CA380331236 | MYBPC3 | c.1039G>T (p.Gly347Cys) c.1021G>T (p.Gly341Cys) | gnomAD v4 |
11 | g.47346258C= | CA1969339530 | MYBPC3 | c.1039G= (p.Gly347=) c.1021G= (p.Gly341=) | |
11 | g.47346258C>G | CA380331238 | MYBPC3 | c.1039G>C (p.Gly347Arg) c.1021G>C (p.Gly341Arg) | ClinVar dbSNP |
11 | g.47346258C>T | CA009719 | MYBPC3 | c.1039G>A (p.Gly347Ser) c.1021G>A (p.Gly341Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346258_47346259insTGCCG | CA2739291479 | MYBPC3 | c.1038_1039insCGGCA (p.Gly347ArgfsTer5) c.1020_1021insCGGCA (p.Gly341ArgfsTer5) | |
11 | g.47346259G>A | CA042114 | MYBPC3 | c.1038C>T (p.Arg346=) c.1020C>T (p.Arg340=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346259G>C | CA474220842 | MYBPC3 | c.1038C>G (p.Arg346=) c.1020C>G (p.Arg340=) | |
11 | g.47346259G= | CA1969339535 | MYBPC3 | c.1038C= (p.Arg346=) c.1020C= (p.Arg340=) | |
11 | g.47346259G>T | CA474220843 | MYBPC3 | c.1038C>A (p.Arg346=) c.1020C>A (p.Arg340=) | |
11 | g.47346260C>A | CA380331244 | MYBPC3 | c.1037G>T (p.Arg346Leu) c.1019G>T (p.Arg340Leu) | |
11 | g.47346260C= | CA1969339539 | MYBPC3 | c.1037G= (p.Arg346=) c.1019G= (p.Arg340=) | |
11 | g.47346260C>G | CA380331248 | MYBPC3 | c.1037G>C (p.Arg346Pro) c.1019G>C (p.Arg340Pro) | |
11 | g.47346260C>T | CA009714 | MYBPC3 | c.1037G>A (p.Arg346His) c.1019G>A (p.Arg340His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47346261G>A | CA380331260 | MYBPC3 | c.1036C>T (p.Arg346Cys) c.1018C>T (p.Arg340Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
11 | g.47346261G>C | CA380331264 | MYBPC3 | c.1036C>G (p.Arg346Gly) c.1018C>G (p.Arg340Gly) | ClinVar dbSNP |
11 | g.47346261G= | CA1969339543 | MYBPC3 | c.1036C= (p.Arg346=) c.1018C= (p.Arg340=) | |
11 | g.47346261G>T | CA380331255 | MYBPC3 | c.1036C>A (p.Arg346Ser) c.1018C>A (p.Arg340Ser) | ClinVar dbSNP |
11 | g.47346262C>A | CA474220846 | MYBPC3 | c.1035G>T (p.Leu345=) c.1017G>T (p.Leu339=) | |
11 | g.47346262C= | CA1969339548 | MYBPC3 | c.1035G= (p.Leu345=) c.1017G= (p.Leu339=) | |
11 | g.47346262C>G | CA474220848 | MYBPC3 | c.1035G>C (p.Leu345=) c.1017G>C (p.Leu339=) | |
11 | g.47346262C>T | CA042085 | MYBPC3 | c.1035G>A (p.Leu345=) c.1017G>A (p.Leu339=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47346263A= | CA1969339551 | MYBPC3 | c.1034T= (p.Leu345=) c.1016T= (p.Leu339=) | |
11 | g.47346263A>C | CA380331267 | MYBPC3 | c.1034T>G (p.Leu345Arg) c.1016T>G (p.Leu339Arg) | |
11 | g.47346263A>G | CA380331268 | MYBPC3 | c.1034T>C (p.Leu345Pro) c.1016T>C (p.Leu339Pro) | ClinVar dbSNP |
11 | g.47346263A>T | CA380331269 | MYBPC3 | c.1034T>A (p.Leu345Gln) c.1016T>A (p.Leu339Gln) | |
11 | g.47346264G>A | CA474220850 | MYBPC3 | c.1033C>T (p.Leu345=) c.1015C>T (p.Leu339=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47346264G>C | CA380331270 | MYBPC3 | c.1033C>G (p.Leu345Val) c.1015C>G (p.Leu339Val) | |
11 | g.47346264G= | CA1969339554 | MYBPC3 | c.1033C= (p.Leu345=) c.1015C= (p.Leu339=) | |
11 | g.47346264G>T | CA380331271 | MYBPC3 | c.1033C>A (p.Leu345Met) c.1015C>A (p.Leu339Met) | |
11 | g.47346264_47346268delinsGGTCA | CA1969339556 | MYBPC3 | c.1029_1033delinsTGACC (p.Thr343=) c.1011_1015delinsTGACC (p.Thr337=) | |
11 | g.47346265G>A | CA474220851 | MYBPC3 | c.1032C>T (p.Asp344=) c.1014C>T (p.Asp338=) | ClinVar dbSNP gnomAD v4 |
11 | g.47346265G>C | CA380331273 | MYBPC3 | c.1032C>G (p.Asp344Glu) c.1014C>G (p.Asp338Glu) | |
11 | g.47346265G= | CA1969339560 | MYBPC3 | c.1032C= (p.Asp344=) c.1014C= (p.Asp338=) | |
11 | g.47346265G>T | CA380331272 | MYBPC3 | c.1032C>A (p.Asp344Glu) c.1014C>A (p.Asp338Glu) | ClinVar dbSNP |
11 | g.47346267_47346270del | CA915948162 | MYBPC3 | c.1029_1032del (p.Asp344CysfsTer5) c.1011_1014del (p.Asp338CysfsTer5) | ClinVar dbSNP |
11 | g.47346266T>A | CA380331274 | MYBPC3 | c.1031A>T (p.Asp344Val) c.1013A>T (p.Asp338Val) | |
11 | g.47346266T>C | CA380331275 | MYBPC3 | c.1031A>G (p.Asp344Gly) c.1013A>G (p.Asp338Gly) | ClinVar dbSNP |
11 | g.47346266T>G | CA380331276 | MYBPC3 | c.1031A>C (p.Asp344Ala) c.1013A>C (p.Asp338Ala) | |
11 | g.47346266T= | CA1969339565 | MYBPC3 | c.1031A= (p.Asp344=) c.1013A= (p.Asp338=) | |
11 | g.47346267C>A | CA380331278 | MYBPC3 | c.1030G>T (p.Asp344Tyr) c.1012G>T (p.Asp338Tyr) | |
11 | g.47346267C= | CA1969339567 | MYBPC3 | c.1030G= (p.Asp344=) c.1012G= (p.Asp338=) | |
11 | g.47346267C>G | CA380331279 | MYBPC3 | c.1030G>C (p.Asp344His) c.1012G>C (p.Asp338His) | dbSNP gnomAD v4 |
11 | g.47346267C>T | CA380331284 | MYBPC3 | c.1030G>A (p.Asp344Asn) c.1012G>A (p.Asp338Asn) | gnomAD v4 |
11 | g.47346268A>C | CA474220858 | MYBPC3 | c.1029T>G (p.Thr343=) c.1011T>G (p.Thr337=) | |
11 | g.47346268A>G | CA474220860 | MYBPC3 | c.1029T>C (p.Thr343=) c.1011T>C (p.Thr337=) | |
11 | g.47346268A>T | CA474220862 | MYBPC3 | c.1029T>A (p.Thr343=) c.1011T>A (p.Thr337=) |