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.47343254_47343582delinsT | CA2573147072 | MYBPC3 | c.1133_1226+6delinsA c.1133_1224-106delinsA c.1115_1208+6delinsA | ClinVar dbSNP |
11 | g.47343546_47343561dup | CA296444 | MYBPC3 | c.1156_1171dup (p.Asp391GlyfsTer4) c.1138_1153dup (p.Asp385GlyfsTer4) | ClinVar dbSNP |
11 | g.47343546_47343562delinsTGGTCAGCCAGTTCCAC | CA1969337186 | MYBPC3 | c.1153_1169delinsGTGGAACTGGCTGACCA (p.Val385=) c.1135_1151delinsGTGGAACTGGCTGACCA (p.Val379=) | |
11 | g.47343555_47343570del | CA352432 | MYBPC3 | c.1153_1168del (p.Val385MetfsTer16) c.1135_1150del (p.Val379MetfsTer16) | ClinVar dbSNP |
11 | g.47343555A>C | CA380328860 | MYBPC3 | c.1160T>G (p.Leu387Arg) c.1142T>G (p.Leu381Arg) | |
11 | g.47343555A>G | CA380328862 | MYBPC3 | c.1160T>C (p.Leu387Pro) c.1142T>C (p.Leu381Pro) | |
11 | g.47343555A>T | CA380328864 | MYBPC3 | c.1160T>A (p.Leu387Gln) c.1142T>A (p.Leu381Gln) | |
11 | g.47343556G>A | CA474220517 | MYBPC3 | c.1159C>T (p.Leu387=) c.1141C>T (p.Leu381=) | gnomAD v4 |
11 | g.47343556G>C | CA380328866 | MYBPC3 | c.1159C>G (p.Leu387Val) c.1141C>G (p.Leu381Val) | |
11 | g.47343556G>T | CA380328867 | MYBPC3 | c.1159C>A (p.Leu387Met) c.1141C>A (p.Leu381Met) | |
11 | g.47343557T>A | CA380328868 | MYBPC3 | c.1158A>T (p.Glu386Asp) c.1140A>T (p.Glu380Asp) | |
11 | g.47343557T>C | CA474220520 | MYBPC3 | c.1158A>G (p.Glu386=) c.1140A>G (p.Glu380=) | |
11 | g.47343557T>G | CA380328871 | MYBPC3 | c.1158A>C (p.Glu386Asp) c.1140A>C (p.Glu380Asp) | |
11 | g.47343558T>A | CA380328876 | MYBPC3 | c.1157A>T (p.Glu386Val) c.1139A>T (p.Glu380Val) | |
11 | g.47343558T>C | CA380328875 | MYBPC3 | c.1157A>G (p.Glu386Gly) c.1139A>G (p.Glu380Gly) | |
11 | g.47343558T>G | CA380328873 | MYBPC3 | c.1157A>C (p.Glu386Ala) c.1139A>C (p.Glu380Ala) | |
11 | g.47343559C>A | CA009823 | MYBPC3 | c.1156G>T (p.Glu386Ter) c.1138G>T (p.Glu380Ter) | ClinVar dbSNP |
11 | g.47343559C= | CA1969337199 | MYBPC3 | c.1156G= (p.Glu386=) c.1138G= (p.Glu380=) | |
11 | g.47343559C>G | CA380328877 | MYBPC3 | c.1156G>C (p.Glu386Gln) c.1138G>C (p.Glu380Gln) | |
11 | g.47343559C>T | CA380328878 | MYBPC3 | c.1156G>A (p.Glu386Lys) c.1138G>A (p.Glu380Lys) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343560C>A | CA474220523 | MYBPC3 | c.1155G>T (p.Val385=) c.1137G>T (p.Val379=) | |
11 | g.47343560C= | CA1969337201 | MYBPC3 | c.1155G= (p.Val385=) c.1137G= (p.Val379=) | |
11 | g.47343560C>G | CA474220524 | MYBPC3 | c.1155G>C (p.Val385=) c.1137G>C (p.Val379=) | |
11 | g.47343560C>T | CA221697710 | MYBPC3 | c.1155G>A (p.Val385=) c.1137G>A (p.Val379=) | dbSNP gnomAD v4 |
11 | g.47343561A>C | CA380328882 | MYBPC3 | c.1154T>G (p.Val385Gly) c.1136T>G (p.Val379Gly) | |
11 | g.47343561A>G | CA380328888 | MYBPC3 | c.1154T>C (p.Val385Ala) c.1136T>C (p.Val379Ala) | |
11 | g.47343561A>T | CA380328890 | MYBPC3 | c.1154T>A (p.Val385Glu) c.1136T>A (p.Val379Glu) | |
11 | g.47343562C>A | CA380328895 | MYBPC3 | c.1153G>T (p.Val385Leu) c.1135G>T (p.Val379Leu) | |
11 | g.47343562C= | CA1969337203 | MYBPC3 | c.1153G= (p.Val385=) c.1135G= (p.Val379=) | |
11 | g.47343562C>G | CA380328900 | MYBPC3 | c.1153G>C (p.Val385Leu) c.1135G>C (p.Val379Leu) | ClinVar |
11 | g.47343562C>T | CA042951 | MYBPC3 | c.1153G>A (p.Val385Met) c.1135G>A (p.Val379Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47343563G>A | CA042935 | MYBPC3 | c.1152C>T (p.Thr384=) c.1134C>T (p.Thr378=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47343563G>C | CA042919 | MYBPC3 | c.1152C>G (p.Thr384=) c.1134C>G (p.Thr378=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
11 | g.47343563G= | CA1969337206 | MYBPC3 | c.1152C= (p.Thr384=) c.1134C= (p.Thr378=) | |
11 | g.47343563G>T | CA474220533 | MYBPC3 | c.1152C>A (p.Thr384=) c.1134C>A (p.Thr378=) | gnomAD v4 |
11 | g.47343564G>A | CA380328949 | MYBPC3 | c.1151C>T (p.Thr384Ile) c.1133C>T (p.Thr378Ile) | ClinVar dbSNP gnomAD v4 |
11 | g.47343564G>C | CA380328943 | MYBPC3 | c.1151C>G (p.Thr384Ser) c.1133C>G (p.Thr378Ser) | |
11 | g.47343564G= | CA1969337209 | MYBPC3 | c.1151C= (p.Thr384=) c.1133C= (p.Thr378=) | |
11 | g.47343564G>T | CA380328927 | MYBPC3 | c.1151C>A (p.Thr384Asn) c.1133C>A (p.Thr378Asn) | gnomAD v4 |
11 | g.47343565T>A | CA380328954 | MYBPC3 | c.1150A>T (p.Thr384Ser) c.1132A>T (p.Thr378Ser) | |
11 | g.47343565T>C | CA380328957 | MYBPC3 | c.1150A>G (p.Thr384Ala) c.1132A>G (p.Thr378Ala) | |
11 | g.47343565T>G | CA380328960 | MYBPC3 | c.1150A>C (p.Thr384Pro) c.1132A>C (p.Thr378Pro) | |
11 | g.47343566C>A | CA474220536 | MYBPC3 | c.1149G>T (p.Leu383=) c.1131G>T (p.Leu377=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343566C= | CA1969337211 | MYBPC3 | c.1149G= (p.Leu383=) c.1131G= (p.Leu377=) | |
11 | g.47343566C>G | CA474220539 | MYBPC3 | c.1149G>C (p.Leu383=) c.1131G>C (p.Leu377=) | |
11 | g.47343566C>T | CA474220540 | MYBPC3 | c.1149G>A (p.Leu383=) c.1131G>A (p.Leu377=) | |
11 | g.47343567A>C | CA380328963 | MYBPC3 | c.1148T>G (p.Leu383Arg) c.1130T>G (p.Leu377Arg) | |
11 | g.47343567A>G | CA380328968 | MYBPC3 | c.1148T>C (p.Leu383Pro) c.1130T>C (p.Leu377Pro) | |
11 | g.47343567A>T | CA380328970 | MYBPC3 | c.1148T>A (p.Leu383Gln) c.1130T>A (p.Leu377Gln) |