Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47330388_47335387del | CA2740090117 | |||
11 | g.47331849_47331872del | CA2580084159 | MYBPC3 | c.3824_*22del (n.[c.3824_*22del;Ter1275SerextTer?]) c.3806_*22del (n.[c.3806_*22del;Ter1269SerextTer?]) c.3743_*22del (n.[c.3743_*22del;Ter1248SerextTer?]) | ClinVar |
11 | g.47331854_47331865delinsCCCAGGAGCCAG | CA1969332898 | MYBPC3 | c.*6_*17delinsCTGGCTCCTGGG (n.*6_*17delinsCTGGCTCCTGGG) | |
11 | g.47331857_47331867del | CA015548 | MYBPC3 | c.*6_*16del (n.*6_*16del) | ClinVar dbSNP |
11 | g.47331855_47331868delinsCCAGGAGCCAGCCT | CA1969332904 | MYBPC3 | c.*3_*16delinsAGGCTGGCTCCTGG (n.*3_*16delinsAGGCTGGCTCCTGG) | |
11 | g.47331856_47331868del | CA1139659378 | MYBPC3 | c.*3_*15del (n.*3_*15del) | ClinVar dbSNP gnomAD v4 |
11 | g.47331857A= | CA1969332912 | MYBPC3 | c.*14T= (n.*14T=) | |
11 | g.47331857A>C | CA1969332913 | MYBPC3 | c.*14T>G (n.*14T>G) | dbSNP gnomAD v4 |
11 | g.47331857A>G | CA2613355477 | MYBPC3 | c.*14T>C (n.*14T>C) | gnomAD v4 |
11 | g.47331859G>T | CA2613355478 | MYBPC3 | c.*12C>A (n.*12C>A) | gnomAD v4 |
11 | g.47331860A= | CA1969332914 | MYBPC3 | c.*11T= (n.*11T=) | |
11 | g.47331860A>G | CA043132 | MYBPC3 | c.*11T>C (n.*11T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47331860A>T | CA2613355479 | MYBPC3 | c.*11T>A (n.*11T>A) | gnomAD v4 |
11 | g.47331862C>A | CA057727 | MYBPC3 | c.*9G>T (n.*9G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47331862C= | CA1969332916 | MYBPC3 | c.*9G= (n.*9G=) | |
11 | g.47331862C>T | CA2723705555 | MYBPC3 | c.*9G>A (n.*9G>A) | dbSNP |
11 | g.47331863C>T | CA2613355480 | MYBPC3 | c.*8G>A (n.*8G>A) | gnomAD v4 |
11 | g.47331865G>A | CA056493 | MYBPC3 | c.*6C>T (n.*6C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47331865G= | CA1969332921 | MYBPC3 | c.*6C= (n.*6C=) | |
11 | g.47331865G>T | CA056480 | MYBPC3 | c.*6C>A (n.*6C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47331866_47331868delinsCCT | CA1969332924 | MYBPC3 | c.*3_*5delinsAGG (n.*3_*5delinsAGG) | |
11 | g.47331867C= | CA1969332927 | MYBPC3 | c.*4G= (n.*4G=) | |
11 | g.47331867C>T | CA599057706 | MYBPC3 | c.*4G>A (n.*4G>A) | dbSNP gnomAD v2 |
11 | g.47331867_47331868del | CA937665030 | MYBPC3 | c.*3_*4del (n.*3_*4del) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47331868T>C | CA2613355481 | MYBPC3 | c.*3A>G (n.*3A>G) | gnomAD v4 |
11 | g.47331869G>A | CA2613355482 | MYBPC3 | c.*2C>T (n.*2C>T) | gnomAD v4 |
11 | g.47331869G>C | CA2580084161 | MYBPC3 | c.*2C>G (n.*2C>G) | ClinVar |
11 | g.47331870G= | CA1969332929 | MYBPC3 | c.*1C= (n.*1C=) | |
11 | g.47331870G>T | CA474211846 | MYBPC3 | c.*1C>A (n.*1C>A) | dbSNP gnomAD v2 |
11 | g.47331871T>A | CA380309336 | MYBPC3 | c.3825A>T (p.Ter1275Cys) c.3807A>T (p.Ter1269Cys) c.3744A>T (p.Ter1248Cys) | |
11 | g.47331871T>C | CA014992 | MYBPC3 | c.3825A>G (p.Ter1275Trp) c.3807A>G (p.Ter1269Trp) c.3744A>G (p.Ter1248Trp) | ClinVar dbSNP gnomAD v4 |
11 | g.47331871T>G | CA380309341 | MYBPC3 | c.3825A>C (p.Ter1275Cys) c.3807A>C (p.Ter1269Cys) c.3744A>C (p.Ter1248Cys) | |
11 | g.47331871T= | CA1969332934 | MYBPC3 | c.3825A= (p.Ter1275=) c.3807A= (p.Ter1269=) c.3744A= (p.Ter1248=) | |
11 | g.47331872C>A | CA380309346 | MYBPC3 | c.3824G>T (p.Ter1275Leu) c.3806G>T (p.Ter1269Leu) c.3743G>T (p.Ter1248Leu) | gnomAD v4 |
11 | g.47331872C= | CA1969332938 | MYBPC3 | c.3824G= (p.Ter1275=) c.3806G= (p.Ter1269=) c.3743G= (p.Ter1248=) | |
11 | g.47331872C>G | CA380309349 | MYBPC3 | c.3824G>C (p.Ter1275Ser) c.3806G>C (p.Ter1269Ser) c.3743G>C (p.Ter1248Ser) | |
11 | g.47331872C>T | CA474211847 | MYBPC3 | c.3824G>A (p.Ter1275=) c.3806G>A (p.Ter1269=) c.3743G>A (p.Ter1248=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47331877_47331884del | CA677012817 | MYBPC3 | c.3817_3824del c.3799_3806del c.3736_3743del | gnomAD v3 gnomAD v4 |
11 | g.47331873A>C | CA380309360 | MYBPC3 | c.3823T>G (p.Ter1275Gly) c.3805T>G (p.Ter1269Gly) c.3742T>G (p.Ter1248Gly) | |
11 | g.47331873A>G | CA380309354 | MYBPC3 | c.3823T>C (p.Ter1275Arg) c.3805T>C (p.Ter1269Arg) c.3742T>C (p.Ter1248Arg) | |
11 | g.47331873A>T | CA380309357 | MYBPC3 | c.3823T>A (p.Ter1275Arg) c.3805T>A (p.Ter1269Arg) c.3742T>A (p.Ter1248Arg) | |
11 | g.47331874C>A | CA380309364 | MYBPC3 | c.3822G>T (p.Gln1274His) c.3804G>T (p.Gln1268His) c.3741G>T (p.Gln1247His) | |
11 | g.47331874C>G | CA380309366 | MYBPC3 | c.3822G>C (p.Gln1274His) c.3804G>C (p.Gln1268His) c.3741G>C (p.Gln1247His) | |
11 | g.47331874C>T | CA474211848 | MYBPC3 | c.3822G>A (p.Gln1274=) c.3804G>A (p.Gln1268=) c.3741G>A (p.Gln1247=) | |
11 | g.47331875T>A | CA380309374 | MYBPC3 | c.3821A>T (p.Gln1274Leu) c.3803A>T (p.Gln1268Leu) c.3740A>T (p.Gln1247Leu) | |
11 | g.47331875T>C | CA380309377 | MYBPC3 | c.3821A>G (p.Gln1274Arg) c.3803A>G (p.Gln1268Arg) c.3740A>G (p.Gln1247Arg) | |
11 | g.47331875T>G | CA380309380 | MYBPC3 | c.3821A>C (p.Gln1274Pro) c.3803A>C (p.Gln1268Pro) c.3740A>C (p.Gln1247Pro) | |
11 | g.47331876G>A | CA380309385 | MYBPC3 | c.3820C>T (p.Gln1274Ter) c.3802C>T (p.Gln1268Ter) c.3739C>T (p.Gln1247Ter) | |
11 | g.47331876G>C | CA380309388 | MYBPC3 | c.3820C>G (p.Gln1274Glu) c.3802C>G (p.Gln1268Glu) c.3739C>G (p.Gln1247Glu) | |
11 | g.47331876G>T | CA380309392 | MYBPC3 | c.3820C>A (p.Gln1274Lys) c.3802C>A (p.Gln1268Lys) c.3739C>A (p.Gln1247Lys) | gnomAD v4 |