Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47341257_47344691del | CA913203384 | MYBPC3 | c.1091-1066_1791-12del c.1073-1066_1773-12del | |
11 | g.47343587_47343615dup | CA913190287 | MYBPC3 | c.1101_1129dup (p.Lys377ArgfsTer9) c.1083_1111dup (p.Lys371ArgfsTer9) | ClinVar dbSNP |
11 | g.47343597T>A | CA380329328 | MYBPC3 | c.1118A>T (p.Tyr373Phe) c.1100A>T (p.Tyr367Phe) | |
11 | g.47343597T>C | CA380329332 | MYBPC3 | c.1118A>G (p.Tyr373Cys) c.1100A>G (p.Tyr367Cys) | |
11 | g.47343597T>G | CA380329334 | MYBPC3 | c.1118A>C (p.Tyr373Ser) c.1100A>C (p.Tyr367Ser) | |
11 | g.47343598A>C | CA380329338 | MYBPC3 | c.1117T>G (p.Tyr373Asp) c.1099T>G (p.Tyr367Asp) | |
11 | g.47343598A>G | CA380329340 | MYBPC3 | c.1117T>C (p.Tyr373His) c.1099T>C (p.Tyr367His) | gnomAD v4 |
11 | g.47343598A>T | CA380329343 | MYBPC3 | c.1117T>A (p.Tyr373Asn) c.1099T>A (p.Tyr367Asn) | |
11 | g.47343599G>A | CA474220589 | MYBPC3 | c.1116C>T (p.Ala372=) c.1098C>T (p.Ala366=) | ClinVar dbSNP |
11 | g.47343599G>C | CA474220590 | MYBPC3 | c.1116C>G (p.Ala372=) c.1098C>G (p.Ala366=) | |
11 | g.47343599G= | CA1969337386 | MYBPC3 | c.1116C= (p.Ala372=) c.1098C= (p.Ala366=) | |
11 | g.47343599G>T | CA474220591 | MYBPC3 | c.1116C>A (p.Ala372=) c.1098C>A (p.Ala366=) | |
11 | g.47343600dup | CA2580084289 | MYBPC3 | c.1116dup (p.Tyr373LeufsTer17) c.1098dup (p.Tyr367LeufsTer17) | ClinVar |
11 | g.47343602_47343605del | CA2580084290 | MYBPC3 | c.1113_1116del (p.Ala372ThrfsTer3) c.1095_1098del (p.Ala366ThrfsTer3) | ClinVar |
11 | g.47343600G>A | CA380329347 | MYBPC3 | c.1115C>T (p.Ala372Val) c.1097C>T (p.Ala366Val) | ClinVar dbSNP gnomAD v4 |
11 | g.47343600G>C | CA380329348 | MYBPC3 | c.1115C>G (p.Ala372Gly) c.1097C>G (p.Ala366Gly) | |
11 | g.47343600G= | CA1969337388 | MYBPC3 | c.1115C= (p.Ala372=) c.1097C= (p.Ala366=) | |
11 | g.47343600G>T | CA380329349 | MYBPC3 | c.1115C>A (p.Ala372Asp) c.1097C>A (p.Ala366Asp) | |
11 | g.47343601C>A | CA380329352 | MYBPC3 | c.1114G>T (p.Ala372Ser) c.1096G>T (p.Ala366Ser) | |
11 | g.47343601C>G | CA380329355 | MYBPC3 | c.1114G>C (p.Ala372Pro) c.1096G>C (p.Ala366Pro) | |
11 | g.47343601C>T | CA380329357 | MYBPC3 | c.1114G>A (p.Ala372Thr) c.1096G>A (p.Ala366Thr) | gnomAD v4 |
11 | g.47343602C>A | CA474220592 | MYBPC3 | c.1113G>T (p.Pro371=) c.1095G>T (p.Pro365=) | dbSNP |
11 | g.47343602C= | CA1969337395 | MYBPC3 | c.1113G= (p.Pro371=) c.1095G= (p.Pro365=) | |
11 | g.47343602C>G | CA474220593 | MYBPC3 | c.1113G>C (p.Pro371=) c.1095G>C (p.Pro365=) | |
11 | g.47343602C>T | CA10638736 | MYBPC3 | c.1113G>A (p.Pro371=) c.1095G>A (p.Pro365=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343603G>A | CA009790 | MYBPC3 | c.1112C>T (p.Pro371Leu) c.1094C>T (p.Pro365Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343603G>C | CA009783 | MYBPC3 | c.1112C>G (p.Pro371Arg) c.1094C>G (p.Pro365Arg) | ClinVar dbSNP gnomAD v4 |
11 | g.47343603G= | CA1969337403 | MYBPC3 | c.1112C= (p.Pro371=) c.1094C= (p.Pro365=) | |
11 | g.47343603G>T | CA380329361 | MYBPC3 | c.1112C>A (p.Pro371Gln) c.1094C>A (p.Pro365Gln) | |
11 | g.47343604G>A | CA380329379 | MYBPC3 | c.1111C>T (p.Pro371Ser) c.1093C>T (p.Pro365Ser) | |
11 | g.47343604G>C | CA380329371 | MYBPC3 | c.1111C>G (p.Pro371Ala) c.1093C>G (p.Pro365Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343604G= | CA1969337410 | MYBPC3 | c.1111C= (p.Pro371=) c.1093C= (p.Pro365=) | |
11 | g.47343604G>T | CA221697755 | MYBPC3 | c.1111C>A (p.Pro371Thr) c.1093C>A (p.Pro365Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343605C>A | CA380329390 | MYBPC3 | c.1110G>T (p.Glu370Asp) c.1092G>T (p.Glu364Asp) | |
11 | g.47343605C>G | CA380329394 | MYBPC3 | c.1110G>C (p.Glu370Asp) c.1092G>C (p.Glu364Asp) | |
11 | g.47343605C>T | CA474220595 | MYBPC3 | c.1110G>A (p.Glu370=) c.1092G>A (p.Glu364=) | |
11 | g.47343606T>A | CA380329397 | MYBPC3 | c.1109A>T (p.Glu370Val) c.1091A>T (p.Glu364Val) | |
11 | g.47343606T>C | CA380329398 | MYBPC3 | c.1109A>G (p.Glu370Gly) c.1091A>G (p.Glu364Gly) | |
11 | g.47343606T>G | CA380329400 | MYBPC3 | c.1109A>C (p.Glu370Ala) c.1091A>C (p.Glu364Ala) | |
11 | g.47343607C>A | CA380329408 | MYBPC3 | c.1108G>T (p.Glu370Ter) c.1090G>T (p.Glu364Ter) | |
11 | g.47343607C= | CA1969337412 | MYBPC3 | c.1108G= (p.Glu370=) c.1090G= (p.Glu364=) | |
11 | g.47343607C>G | CA380329416 | MYBPC3 | c.1108G>C (p.Glu370Gln) c.1090G>C (p.Glu364Gln) | |
11 | g.47343607C>T | CA380329420 | MYBPC3 | c.1108G>A (p.Glu370Lys) c.1090G>A (p.Glu364Lys) | |
11 | g.47343608C>A | CA474220598 | MYBPC3 | c.1107G>T (p.Leu369=) c.1089G>T (p.Leu363=) | |
11 | g.47343608C>G | CA474220597 | MYBPC3 | c.1107G>C (p.Leu369=) c.1089G>C (p.Leu363=) | |
11 | g.47343608C>T | CA474220596 | MYBPC3 | c.1107G>A (p.Leu369=) c.1089G>A (p.Leu363=) | |
11 | g.47343608_47343612dup | CA658797638 | MYBPC3 | c.1103_1107dup (p.Glu370SerfsTer8) c.1085_1089dup (p.Glu364SerfsTer8) | ClinVar dbSNP |
11 | g.47343609A>C | CA380329426 | MYBPC3 | c.1106T>G (p.Leu369Arg) c.1088T>G (p.Leu363Arg) | |
11 | g.47343609A>G | CA380329427 | MYBPC3 | c.1106T>C (p.Leu369Pro) c.1088T>C (p.Leu363Pro) | |
11 | g.47343609A>T | CA380329430 | MYBPC3 | c.1106T>A (p.Leu369Gln) c.1088T>A (p.Leu363Gln) |