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.47343538C>A | CA380328796 | MYBPC3 | c.1177G>T (p.Glu393Ter) c.1159G>T (p.Glu387Ter) | |
11 | g.47343538C= | CA1969337172 | MYBPC3 | c.1177G= (p.Glu393=) c.1159G= (p.Glu387=) | |
11 | g.47343538C>G | CA380328798 | MYBPC3 | c.1177G>C (p.Glu393Gln) c.1159G>C (p.Glu387Gln) | dbSNP |
11 | g.47343538C>T | CA380328799 | MYBPC3 | c.1177G>A (p.Glu393Lys) c.1159G>A (p.Glu387Lys) | gnomAD v4 |
11 | g.47343539A= | CA1969337173 | MYBPC3 | c.1176T= (p.Ala392=) c.1158T= (p.Ala386=) | |
11 | g.47343539A>C | CA474220476 | MYBPC3 | c.1176T>G (p.Ala392=) c.1158T>G (p.Ala386=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343539A>G | CA474220474 | MYBPC3 | c.1176T>C (p.Ala392=) c.1158T>C (p.Ala386=) | |
11 | g.47343539A>T | CA474220475 | MYBPC3 | c.1176T>A (p.Ala392=) c.1158T>A (p.Ala386=) | |
11 | g.47343540G>A | CA380328800 | MYBPC3 | c.1175C>T (p.Ala392Val) c.1157C>T (p.Ala386Val) | |
11 | g.47343540G>C | CA380328801 | MYBPC3 | c.1175C>G (p.Ala392Gly) c.1157C>G (p.Ala386Gly) | |
11 | g.47343540G>T | CA380328802 | MYBPC3 | c.1175C>A (p.Ala392Asp) c.1157C>A (p.Ala386Asp) | |
11 | g.47343540_47343541delinsGC | CA1969337175 | MYBPC3 | c.1174_1175delinsGC (p.Ala392=) c.1156_1157delinsGC (p.Ala386=) | |
11 | g.47343541del | CA891842478 | MYBPC3 | c.1174del (p.Ala392LeufsTer14) c.1156del (p.Ala386LeufsTer14) | ClinVar dbSNP |
11 | g.47343541C>A | CA380328805 | MYBPC3 | c.1174G>T (p.Ala392Ser) c.1156G>T (p.Ala386Ser) | ClinVar gnomAD v4 |
11 | g.47343541C= | CA1969337177 | MYBPC3 | c.1174G= (p.Ala392=) c.1156G= (p.Ala386=) | |
11 | g.47343541C>G | CA380328804 | MYBPC3 | c.1174G>C (p.Ala392Pro) c.1156G>C (p.Ala386Pro) | |
11 | g.47343541C>T | CA221697618 | MYBPC3 | c.1174G>A (p.Ala392Thr) c.1156G>A (p.Ala386Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343542G>A | CA042990 | MYBPC3 | c.1173C>T (p.Asp391=) c.1155C>T (p.Asp385=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343542G>C | CA380328806 | MYBPC3 | c.1173C>G (p.Asp391Glu) c.1155C>G (p.Asp385Glu) | |
11 | g.47343542G= | CA1969337179 | MYBPC3 | c.1173C= (p.Asp391=) c.1155C= (p.Asp385=) | |
11 | g.47343542G>T | CA380328808 | MYBPC3 | c.1173C>A (p.Asp391Glu) c.1155C>A (p.Asp385Glu) | |
11 | g.47343543T>A | CA380328811 | MYBPC3 | c.1172A>T (p.Asp391Val) c.1154A>T (p.Asp385Val) | |
11 | g.47343543T>C | CA380328812 | MYBPC3 | c.1172A>G (p.Asp391Gly) c.1154A>G (p.Asp385Gly) | gnomAD v4 |
11 | g.47343543T>G | CA380328813 | MYBPC3 | c.1172A>C (p.Asp391Ala) c.1154A>C (p.Asp385Ala) | |
11 | g.47343543T= | CA1969337182 | MYBPC3 | c.1172A= (p.Asp391=) c.1154A= (p.Asp385=) | |
11 | g.47343544del | CA2573051162 | MYBPC3 | c.1171del (p.Asp391ThrfsTer15) c.1153del (p.Asp385ThrfsTer15) | |
11 | g.47343544C>A | CA042973 | MYBPC3 | c.1171G>T (p.Asp391Tyr) c.1153G>T (p.Asp385Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343544C= | CA1969337183 | MYBPC3 | c.1171G= (p.Asp391=) c.1153G= (p.Asp385=) | |
11 | g.47343544C>G | CA380328814 | MYBPC3 | c.1171G>C (p.Asp391His) c.1153G>C (p.Asp385His) | |
11 | g.47343544C>T | CA380328815 | MYBPC3 | c.1171G>A (p.Asp391Asn) c.1153G>A (p.Asp385Asn) | |
11 | g.47343546_47343561dup | CA296444 | MYBPC3 | c.1156_1171dup (p.Asp391GlyfsTer4) c.1138_1153dup (p.Asp385GlyfsTer4) | ClinVar dbSNP |
11 | g.47343545A>C | CA380328816 | MYBPC3 | c.1170T>G (p.His390Gln) c.1152T>G (p.His384Gln) | |
11 | g.47343545A>G | CA474220492 | MYBPC3 | c.1170T>C (p.His390=) c.1152T>C (p.His384=) | ClinVar dbSNP |
11 | g.47343545A>T | CA380328817 | MYBPC3 | c.1170T>A (p.His390Gln) c.1152T>A (p.His384Gln) | |
11 | g.47343546T>A | CA380328818 | MYBPC3 | c.1169A>T (p.His390Leu) c.1151A>T (p.His384Leu) | |
11 | g.47343546T>C | CA380328820 | MYBPC3 | c.1169A>G (p.His390Arg) c.1151A>G (p.His384Arg) | ClinVar |
11 | g.47343546T>G | CA380328819 | MYBPC3 | c.1169A>C (p.His390Pro) c.1151A>C (p.His384Pro) | ClinVar |
11 | g.47343546_47343547delinsTG | CA1969337187 | MYBPC3 | c.1168_1169delinsCA (p.His390=) c.1150_1151delinsCA (p.His384=) | |
11 | g.47343546_47343562delinsTGGTCAGCCAGTTCCAC | CA1969337186 | MYBPC3 | c.1153_1169delinsGTGGAACTGGCTGACCA (p.Val385=) c.1135_1151delinsGTGGAACTGGCTGACCA (p.Val379=) | |
11 | g.47343547G>A | CA380328821 | MYBPC3 | c.1168C>T (p.His390Tyr) c.1150C>T (p.His384Tyr) | |
11 | g.47343547G>C | CA380328822 | MYBPC3 | c.1168C>G (p.His390Asp) c.1150C>G (p.His384Asp) | |
11 | g.47343547G= | CA1969337190 | MYBPC3 | c.1168C= (p.His390=) c.1150C= (p.His384=) | |
11 | g.47343547G>T | CA380328823 | MYBPC3 | c.1168C>A (p.His390Asn) c.1150C>A (p.His384Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343548dup | CA913190286 | MYBPC3 | c.1168dup (p.His390ProfsTer2) c.1150dup (p.His384ProfsTer2) | ClinVar dbSNP |
11 | g.47343548del | CA009831 | MYBPC3 | c.1168del (p.His390MetfsTer16) c.1150del (p.His384MetfsTer16) | ClinVar dbSNP |
11 | g.47343555_47343570del | CA352432 | MYBPC3 | c.1153_1168del (p.Val385MetfsTer16) c.1135_1150del (p.Val379MetfsTer16) | ClinVar dbSNP |
11 | g.47343548G>A | CA474220498 | MYBPC3 | c.1167C>T (p.Asp389=) c.1149C>T (p.Asp383=) | gnomAD v4 |
11 | g.47343548G>C | CA380328831 | MYBPC3 | c.1167C>G (p.Asp389Glu) c.1149C>G (p.Asp383Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343548G= | CA1969337192 | MYBPC3 | c.1167C= (p.Asp389=) c.1149C= (p.Asp383=) | |
11 | g.47343548G>T | CA380328833 | MYBPC3 | c.1167C>A (p.Asp389Glu) c.1149C>A (p.Asp383Glu) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343549T>A | CA380328836 | MYBPC3 | c.1166A>T (p.Asp389Val) c.1148A>T (p.Asp383Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343549T>C | CA380328838 | MYBPC3 | c.1166A>G (p.Asp389Gly) c.1148A>G (p.Asp383Gly) | |
11 | g.47343549T>G | CA380328839 | MYBPC3 | c.1166A>C (p.Asp389Ala) c.1148A>C (p.Asp383Ala) | |
11 | g.47343549T= | CA1969337194 | MYBPC3 | c.1166A= (p.Asp389=) c.1148A= (p.Asp383=) | |
11 | g.47343550C>A | CA380328844 | MYBPC3 | c.1165G>T (p.Asp389Tyr) c.1147G>T (p.Asp383Tyr) | |
11 | g.47343550C>G | CA380328843 | MYBPC3 | c.1165G>C (p.Asp389His) c.1147G>C (p.Asp383His) | |
11 | g.47343550C>T | CA380328841 | MYBPC3 | c.1165G>A (p.Asp389Asn) c.1147G>A (p.Asp383Asn) | |
11 | g.47343551A>C | CA474220503 | MYBPC3 | c.1164T>G (p.Ala388=) c.1146T>G (p.Ala382=) | |
11 | g.47343551A>G | CA474220504 | MYBPC3 | c.1164T>C (p.Ala388=) c.1146T>C (p.Ala382=) | |
11 | g.47343551A>T | CA474220505 | MYBPC3 | c.1164T>A (p.Ala388=) c.1146T>A (p.Ala382=) | |
11 | g.47343552G>A | CA380328846 | MYBPC3 | c.1163C>T (p.Ala388Val) c.1145C>T (p.Ala382Val) | |
11 | g.47343552G>C | CA380328848 | MYBPC3 | c.1163C>G (p.Ala388Gly) c.1145C>G (p.Ala382Gly) | |
11 | g.47343552G= | CA1969337195 | MYBPC3 | c.1163C= (p.Ala388=) c.1145C= (p.Ala382=) | |
11 | g.47343552G>T | CA380328847 | MYBPC3 | c.1163C>A (p.Ala388Asp) c.1145C>A (p.Ala382Asp) | |
11 | g.47343553C>A | CA380328852 | MYBPC3 | c.1162G>T (p.Ala388Ser) c.1144G>T (p.Ala382Ser) | |
11 | g.47343553C>G | CA380328855 | MYBPC3 | c.1162G>C (p.Ala388Pro) c.1144G>C (p.Ala382Pro) | |
11 | g.47343553C>T | CA380328857 | MYBPC3 | c.1162G>A (p.Ala388Thr) c.1144G>A (p.Ala382Thr) | gnomAD v4 COSMIC |
11 | g.47343554dup | CA296500 | MYBPC3 | c.1162dup (p.Ala388GlyfsTer2) c.1144dup (p.Ala382GlyfsTer2) | ClinVar dbSNP |
11 | g.47343554C>A | CA474220512 | MYBPC3 | c.1161G>T (p.Leu387=) c.1143G>T (p.Leu381=) | |
11 | g.47343554C>G | CA474220511 | MYBPC3 | c.1161G>C (p.Leu387=) c.1143G>C (p.Leu381=) | |
11 | g.47343554C>T | CA474220510 | MYBPC3 | c.1161G>A (p.Leu387=) c.1143G>A (p.Leu381=) | gnomAD v4 |
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) | ClinVar |
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) | |
11 | g.47343568G>A | CA474220543 | MYBPC3 | c.1147C>T (p.Leu383=) c.1129C>T (p.Leu377=) | ClinVar dbSNP |
11 | g.47343568G>C | CA009817 | MYBPC3 | c.1147C>G (p.Leu383Val) c.1129C>G (p.Leu377Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343568G= | CA1969337213 | MYBPC3 | c.1147C= (p.Leu383=) c.1129C= (p.Leu377=) | |
11 | g.47343568G>T | CA380328973 | MYBPC3 | c.1147C>A (p.Leu383Met) c.1129C>A (p.Leu377Met) | |
11 | g.47343569C>A | CA474220545 | MYBPC3 | c.1146G>T (p.Arg382=) c.1128G>T (p.Arg376=) | dbSNP gnomAD v2 |
11 | g.47343569C= | CA1969337215 | MYBPC3 | c.1146G= (p.Arg382=) c.1128G= (p.Arg376=) | |
11 | g.47343569C>G | CA474220546 | MYBPC3 | c.1146G>C (p.Arg382=) c.1128G>C (p.Arg376=) | |
11 | g.47343569C>T | CA474220548 | MYBPC3 | c.1146G>A (p.Arg382=) c.1128G>A (p.Arg376=) | |
11 | g.47343570C>A | CA380328976 | MYBPC3 | c.1145G>T (p.Arg382Leu) c.1127G>T (p.Arg376Leu) | |
11 | g.47343570C= | CA1969337217 | MYBPC3 | c.1145G= (p.Arg382=) c.1127G= (p.Arg376=) | |
11 | g.47343570C>G | CA380328981 | MYBPC3 | c.1145G>C (p.Arg382Pro) c.1127G>C (p.Arg376Pro) | |
11 | g.47343570C>T | CA5975380 | MYBPC3 | c.1145G>A (p.Arg382Gln) c.1127G>A (p.Arg376Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343570_47343571delinsCG | CA1969337219 | MYBPC3 | c.1144_1145delinsCG (p.Arg382=) c.1126_1127delinsCG (p.Arg376=) | |
11 | g.47343571G>A | CA009811 | MYBPC3 | c.1144C>T (p.Arg382Trp) c.1126C>T (p.Arg376Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343571G>C | CA380329005 | MYBPC3 | c.1144C>G (p.Arg382Gly) c.1126C>G (p.Arg376Gly) | ClinVar dbSNP |
11 | g.47343571G= | CA1969337221 | MYBPC3 | c.1144C= (p.Arg382=) c.1126C= (p.Arg376=) | |
11 | g.47343571G>T | CA474220553 | MYBPC3 | c.1144C>A (p.Arg382=) c.1126C>A (p.Arg376=) | |
11 | g.47343572del | CA5975379 | MYBPC3 | c.1144del (p.Arg382GlyfsTer2) c.1126del (p.Arg376GlyfsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343572G>A | CA474220554 | MYBPC3 | c.1143C>T (p.Ile381=) c.1125C>T (p.Ile375=) | ClinVar dbSNP gnomAD v4 |
11 | g.47343572G>C | CA380329012 | MYBPC3 | c.1143C>G (p.Ile381Met) c.1125C>G (p.Ile375Met) | |
11 | g.47343572G= | CA1969337223 | MYBPC3 | c.1143C= (p.Ile381=) c.1125C= (p.Ile375=) | |
11 | g.47343572G>T | CA474220555 | MYBPC3 | c.1143C>A (p.Ile381=) c.1125C>A (p.Ile375=) | ClinVar dbSNP |
11 | g.47343572_47343573dup | CA5975381 | MYBPC3 | c.1142_1143dup (p.Arg382SerfsTer3) c.1124_1125dup (p.Arg376SerfsTer3) | dbSNP ExAC gnomAD v2 |
11 | g.47343573A= | CA1969337225 | MYBPC3 | c.1142T= (p.Ile381=) c.1124T= (p.Ile375=) | |
11 | g.47343573A>C | CA380329036 | MYBPC3 | c.1142T>G (p.Ile381Ser) c.1124T>G (p.Ile375Ser) | |
11 | g.47343573A>G | CA380329039 | MYBPC3 | c.1142T>C (p.Ile381Thr) c.1124T>C (p.Ile375Thr) | |
11 | g.47343573A>T | CA380329042 | MYBPC3 | c.1142T>A (p.Ile381Asn) c.1124T>A (p.Ile375Asn) | ClinVar dbSNP |
11 | g.47343574T>A | CA380329064 | MYBPC3 | c.1141A>T (p.Ile381Phe) c.1123A>T (p.Ile375Phe) | |
11 | g.47343574T>C | CA380329058 | MYBPC3 | c.1141A>G (p.Ile381Val) c.1123A>G (p.Ile375Val) | |
11 | g.47343574T>G | CA380329061 | MYBPC3 | c.1141A>C (p.Ile381Leu) c.1123A>C (p.Ile375Leu) | |
11 | g.47343575C>A | CA380329071 | MYBPC3 | c.1140G>T (p.Lys380Asn) c.1122G>T (p.Lys374Asn) | ClinVar dbSNP gnomAD v4 |
11 | g.47343575C= | CA1969337227 | MYBPC3 | c.1140G= (p.Lys380=) c.1122G= (p.Lys374=) | |
11 | g.47343575C>G | CA380329075 | MYBPC3 | c.1140G>C (p.Lys380Asn) c.1122G>C (p.Lys374Asn) | |
11 | g.47343575C>T | CA474220558 | MYBPC3 | c.1140G>A (p.Lys380=) c.1122G>A (p.Lys374=) | |
11 | g.47343576T>A | CA380329082 | MYBPC3 | c.1139A>T (p.Lys380Met) c.1121A>T (p.Lys374Met) | COSMIC COSMIC |
11 | g.47343576T>C | CA380329084 | MYBPC3 | c.1139A>G (p.Lys380Arg) c.1121A>G (p.Lys374Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343576T>G | CA380329086 | MYBPC3 | c.1139A>C (p.Lys380Thr) c.1121A>C (p.Lys374Thr) | |
11 | g.47343576T= | CA1969337230 | MYBPC3 | c.1139A= (p.Lys380=) c.1121A= (p.Lys374=) | |
11 | g.47343577T>A | CA380329102 | MYBPC3 | c.1138A>T (p.Lys380Ter) c.1120A>T (p.Lys374Ter) | |
11 | g.47343577T>C | CA380329093 | MYBPC3 | c.1138A>G (p.Lys380Glu) c.1120A>G (p.Lys374Glu) | ClinVar |
11 | g.47343577T>G | CA380329090 | MYBPC3 | c.1138A>C (p.Lys380Gln) c.1120A>C (p.Lys374Gln) | |
11 | g.47343578G>A | CA474220563 | MYBPC3 | c.1137C>T (p.His379=) c.1119C>T (p.His373=) | |
11 | g.47343578G>C | CA380329104 | MYBPC3 | c.1137C>G (p.His379Gln) c.1119C>G (p.His373Gln) | |
11 | g.47343578G>T | CA380329107 | MYBPC3 | c.1137C>A (p.His379Gln) c.1119C>A (p.His373Gln) | |
11 | g.47343579T>A | CA380329121 | MYBPC3 | c.1136A>T (p.His379Leu) c.1118A>T (p.His373Leu) | |
11 | g.47343579T>C | CA380329128 | MYBPC3 | c.1136A>G (p.His379Arg) c.1118A>G (p.His373Arg) | |
11 | g.47343579T>G | CA380329125 | MYBPC3 | c.1136A>C (p.His379Pro) c.1118A>C (p.His373Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343579T= | CA1969337232 | MYBPC3 | c.1136A= (p.His379=) c.1118A= (p.His373=) | |
11 | g.47343580G>A | CA380329130 | MYBPC3 | c.1135C>T (p.His379Tyr) c.1117C>T (p.His373Tyr) | |
11 | g.47343580G>C | CA380329134 | MYBPC3 | c.1135C>G (p.His379Asp) c.1117C>G (p.His373Asp) | |
11 | g.47343580G>T | CA380329138 | MYBPC3 | c.1135C>A (p.His379Asn) c.1117C>A (p.His373Asn) | |
11 | g.47343581G>A | CA474220566 | MYBPC3 | c.1134C>T (p.Gly378=) c.1116C>T (p.Gly372=) | |
11 | g.47343581G>C | CA474220567 | MYBPC3 | c.1134C>G (p.Gly378=) c.1116C>G (p.Gly372=) | |
11 | g.47343581G>T | CA474220568 | MYBPC3 | c.1134C>A (p.Gly378=) c.1116C>A (p.Gly372=) | |
11 | g.47343582C>A | CA380329142 | MYBPC3 | c.1133G>T (p.Gly378Val) c.1115G>T (p.Gly372Val) | |
11 | g.47343582C= | CA1969337234 | MYBPC3 | c.1133G= (p.Gly378=) c.1115G= (p.Gly372=) | |
11 | g.47343582C>G | CA042850 | MYBPC3 | c.1133G>C (p.Gly378Ala) c.1115G>C (p.Gly372Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343582C>T | CA380329149 | MYBPC3 | c.1133G>A (p.Gly378Asp) c.1115G>A (p.Gly372Asp) | |
11 | g.47343583C>A | CA380329155 | MYBPC3 | c.1132G>T (p.Gly378Cys) c.1114G>T (p.Gly372Cys) | |
11 | g.47343583C>G | CA380329157 | MYBPC3 | c.1132G>C (p.Gly378Arg) c.1114G>C (p.Gly372Arg) | |
11 | g.47343583C>T | CA380329161 | MYBPC3 | c.1132G>A (p.Gly378Ser) c.1114G>A (p.Gly372Ser) | |
11 | g.47343584T>A | CA380329166 | MYBPC3 | c.1131A>T (p.Lys377Asn) c.1113A>T (p.Lys371Asn) | |
11 | g.47343584T>C | CA474220574 | MYBPC3 | c.1131A>G (p.Lys377=) c.1113A>G (p.Lys371=) | dbSNP |
11 | g.47343584T>G | CA380329170 | MYBPC3 | c.1131A>C (p.Lys377Asn) c.1113A>C (p.Lys371Asn) | |
11 | g.47343584T= | CA1969337236 | MYBPC3 | c.1131A= (p.Lys377=) c.1113A= (p.Lys371=) | |
11 | g.47343586del | CA2613407173 | MYBPC3 | c.1131del (p.Gly378AlafsTer6) c.1113del (p.Gly372AlafsTer6) | gnomAD v4 |
11 | g.47343585T>A | CA380329183 | MYBPC3 | c.1130A>T (p.Lys377Ile) c.1112A>T (p.Lys371Ile) | |
11 | g.47343585T>C | CA380329181 | MYBPC3 | c.1130A>G (p.Lys377Arg) c.1112A>G (p.Lys371Arg) | |
11 | g.47343585T>G | CA380329178 | MYBPC3 | c.1130A>C (p.Lys377Thr) c.1112A>C (p.Lys371Thr) | |
11 | g.47343585T= | CA1969337237 | MYBPC3 | c.1130A= (p.Lys377=) c.1112A= (p.Lys371=) | |
11 | g.47343586T>A | CA380329192 | MYBPC3 | c.1129A>T (p.Lys377Ter) c.1111A>T (p.Lys371Ter) | |
11 | g.47343586T>C | CA380329193 | MYBPC3 | c.1129A>G (p.Lys377Glu) c.1111A>G (p.Lys371Glu) | |
11 | g.47343586T>G | CA380329196 | MYBPC3 | c.1129A>C (p.Lys377Gln) c.1111A>C (p.Lys371Gln) | |
11 | g.47343586_47343587delinsTG | CA1969337239 | MYBPC3 | c.1128_1129delinsCA (p.Ser376=) c.1110_1111delinsCA (p.Ser370=) | |
11 | g.47343587_47343615dup | CA913190287 | MYBPC3 | c.1101_1129dup (p.Lys377ArgfsTer9) c.1083_1111dup (p.Lys371ArgfsTer9) | ClinVar dbSNP |
11 | g.47343587del | CA1139661936 | MYBPC3 | c.1128del (p.Ser376ArgfsTer8) c.1110del (p.Ser370ArgfsTer8) | ClinVar dbSNP |
11 | g.47343587G>A | CA474220576 | MYBPC3 | c.1128C>T (p.Ser376=) c.1110C>T (p.Ser370=) | |
11 | g.47343587G>C | CA380329199 | MYBPC3 | c.1128C>G (p.Ser376Arg) c.1110C>G (p.Ser370Arg) | |
11 | g.47343587G= | CA1969337242 | MYBPC3 | c.1128C= (p.Ser376=) c.1110C= (p.Ser370=) | |
11 | g.47343587G>T | CA380329207 | MYBPC3 | c.1128C>A (p.Ser376Arg) c.1110C>A (p.Ser370Arg) | ClinVar dbSNP |
11 | g.47343588C>A | CA380329213 | MYBPC3 | c.1127G>T (p.Ser376Ile) c.1109G>T (p.Ser370Ile) | |
11 | g.47343588C= | CA1969337244 | MYBPC3 | c.1127G= (p.Ser376=) c.1109G= (p.Ser370=) | |
11 | g.47343588C>G | CA380329216 | MYBPC3 | c.1127G>C (p.Ser376Thr) c.1109G>C (p.Ser370Thr) | |
11 | g.47343588C>T | CA380329224 | MYBPC3 | c.1127G>A (p.Ser376Asn) c.1109G>A (p.Ser370Asn) | dbSNP |
11 | g.47343589T>A | CA380329230 | MYBPC3 | c.1126A>T (p.Ser376Cys) c.1108A>T (p.Ser370Cys) | |
11 | g.47343589T>C | CA380329233 | MYBPC3 | c.1126A>G (p.Ser376Gly) c.1108A>G (p.Ser370Gly) | |
11 | g.47343589T>G | CA380329236 | MYBPC3 | c.1126A>C (p.Ser376Arg) c.1108A>C (p.Ser370Arg) | |
11 | g.47343590C>A | CA474220579 | MYBPC3 | c.1125G>T (p.Val375=) c.1107G>T (p.Val369=) | |
11 | g.47343590C= | CA1969337245 | MYBPC3 | c.1125G= (p.Val375=) c.1107G= (p.Val369=) | |
11 | g.47343590C>G | CA474220581 | MYBPC3 | c.1125G>C (p.Val375=) c.1107G>C (p.Val369=) | |
11 | g.47343590C>T | CA474220583 | MYBPC3 | c.1125G>A (p.Val375=) c.1107G>A (p.Val369=) | dbSNP |
11 | g.47343591A= | CA1969337249 | MYBPC3 | c.1124T= (p.Val375=) c.1106T= (p.Val369=) | |
11 | g.47343591A>C | CA380329247 | MYBPC3 | c.1124T>G (p.Val375Gly) c.1106T>G (p.Val369Gly) | |
11 | g.47343591A>G | CA380329244 | MYBPC3 | c.1124T>C (p.Val375Ala) c.1106T>C (p.Val369Ala) | |
11 | g.47343591A>T | CA380329240 | MYBPC3 | c.1124T>A (p.Val375Glu) c.1106T>A (p.Val369Glu) | ClinVar dbSNP |
11 | g.47343592C>A | CA380329258 | MYBPC3 | c.1123G>T (p.Val375Leu) c.1105G>T (p.Val369Leu) | |
11 | g.47343592C= | CA1969337363 | MYBPC3 | c.1123G= (p.Val375=) c.1105G= (p.Val369=) | |
11 | g.47343592C>G | CA380329260 | MYBPC3 | c.1123G>C (p.Val375Leu) c.1105G>C (p.Val369Leu) | |
11 | g.47343592C>T | CA009805 | MYBPC3 | c.1123G>A (p.Val375Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343593C>A | CA380329266 | MYBPC3 | c.1122G>T (p.Gln374His) c.1104G>T (p.Gln368His) | |
11 | g.47343593C>G | CA380329270 | MYBPC3 | c.1122G>C (p.Gln374His) c.1104G>C (p.Gln368His) | ClinVar |
11 | g.47343593C>T | CA474220584 | MYBPC3 | c.1122G>A (p.Gln374=) c.1104G>A (p.Gln368=) | |
11 | g.47343594T>A | CA380329273 | MYBPC3 | c.1121A>T (p.Gln374Leu) c.1103A>T (p.Gln368Leu) | |
11 | g.47343594T>C | CA380329276 | MYBPC3 | c.1121A>G (p.Gln374Arg) c.1103A>G (p.Gln368Arg) | gnomAD v4 |
11 | g.47343594T>G | CA380329279 | MYBPC3 | c.1121A>C (p.Gln374Pro) c.1103A>C (p.Gln368Pro) | |
11 | g.47343594T= | CA1969337367 | MYBPC3 | c.1121A= (p.Gln374=) c.1103A= (p.Gln368=) | |
11 | g.47343595G>A | CA009800 | MYBPC3 | c.1120C>T (p.Gln374Ter) c.1102C>T (p.Gln368Ter) | ClinVar dbSNP |
11 | g.47343595G>C | CA380329301 | MYBPC3 | c.1120C>G (p.Gln374Glu) c.1102C>G (p.Gln368Glu) | dbSNP gnomAD v4 |
11 | g.47343595G= | CA1969337373 | MYBPC3 | c.1120C= (p.Gln374=) c.1102C= (p.Gln368=) | |
11 | g.47343595G>T | CA042817 | MYBPC3 | c.1120C>A (p.Gln374Lys) c.1102C>A (p.Gln368Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.47343596dup | CA009794 | MYBPC3 | c.1120dup (p.Gln374ProfsTer16) c.1102dup (p.Gln368ProfsTer16) | ClinVar dbSNP |
11 | g.47343596G>A | CA474220587 | MYBPC3 | c.1119C>T (p.Tyr373=) c.1101C>T (p.Tyr367=) | |
11 | g.47343596G>C | CA380329323 | MYBPC3 | c.1119C>G (p.Tyr373Ter) c.1101C>G (p.Tyr367Ter) | ClinVar dbSNP |
11 | g.47343596G= | CA1969337381 | MYBPC3 | c.1119C= (p.Tyr373=) c.1101C= (p.Tyr367=) | |
11 | g.47343596G>T | CA380329315 | MYBPC3 | c.1119C>A (p.Tyr373Ter) c.1101C>A (p.Tyr367Ter) | |
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) | |
11 | g.47343610G>A | CA474220599 | MYBPC3 | c.1105C>T (p.Leu369=) c.1087C>T (p.Leu363=) | ClinVar gnomAD v4 |
11 | g.47343610G>C | CA380329435 | MYBPC3 | c.1105C>G (p.Leu369Val) c.1087C>G (p.Leu363Val) | ClinVar |
11 | g.47343610G>T | CA380329434 | MYBPC3 | c.1105C>A (p.Leu369Met) c.1087C>A (p.Leu363Met) | dbSNP gnomAD v4 |
11 | g.47343611C>A | CA380329437 | MYBPC3 | c.1104G>T (p.Lys368Asn) c.1086G>T (p.Lys362Asn) | |
11 | g.47343611C= | CA1969337419 | MYBPC3 | c.1104G= (p.Lys368=) c.1086G= (p.Lys362=) | |
11 | g.47343611C>G | CA380329441 | MYBPC3 | c.1104G>C (p.Lys368Asn) c.1086G>C (p.Lys362Asn) | gnomAD v4 |
11 | g.47343611C>T | CA474220600 | MYBPC3 | c.1104G>A (p.Lys368=) c.1086G>A (p.Lys362=) | ClinVar dbSNP |
11 | g.47343616_47343618del | CA2697548584 | MYBPC3 | c.1102_1104del (p.Lys368del) c.1084_1086del (p.Lys362del) | ClinVar |
11 | g.47343612T>A | CA380329446 | MYBPC3 | c.1103A>T (p.Lys368Met) c.1085A>T (p.Lys362Met) | |
11 | g.47343612T>C | CA380329450 | MYBPC3 | c.1103A>G (p.Lys368Arg) c.1085A>G (p.Lys362Arg) | |
11 | g.47343612T>G | CA380329454 | MYBPC3 | c.1103A>C (p.Lys368Thr) c.1085A>C (p.Lys362Thr) | |
11 | g.47343613T>A | CA380329455 | MYBPC3 | c.1102A>T (p.Lys368Ter) c.1084A>T (p.Lys362Ter) | |
11 | g.47343613T>C | CA380329456 | MYBPC3 | c.1102A>G (p.Lys368Glu) c.1084A>G (p.Lys362Glu) | |
11 | g.47343613T>G | CA380329459 | MYBPC3 | c.1102A>C (p.Lys368Gln) c.1084A>C (p.Lys362Gln) | |
11 | g.47343614C>A | CA042781 | MYBPC3 | c.1101G>T (p.Lys367Asn) c.1083G>T (p.Lys361Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343614C= | CA1969337422 | MYBPC3 | c.1101G= (p.Lys367=) c.1083G= (p.Lys361=) | |
11 | g.47343614C>G | CA380329480 | MYBPC3 | c.1101G>C (p.Lys367Asn) c.1083G>C (p.Lys361Asn) | |
11 | g.47343614C>T | CA474220601 | MYBPC3 | c.1101G>A (p.Lys367=) c.1083G>A (p.Lys361=) | |
11 | g.47343615T>A | CA380329481 | MYBPC3 | c.1100A>T (p.Lys367Met) c.1082A>T (p.Lys361Met) | |
11 | g.47343615T>C | CA042767 | MYBPC3 | c.1100A>G (p.Lys367Arg) c.1082A>G (p.Lys361Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343615T>G | CA380329482 | MYBPC3 | c.1100A>C (p.Lys367Thr) c.1082A>C (p.Lys361Thr) | |
11 | g.47343615T= | CA1969337424 | MYBPC3 | c.1100A= (p.Lys367=) c.1082A= (p.Lys361=) | |
11 | g.47343616T>A | CA380329489 | MYBPC3 | c.1099A>T (p.Lys367Ter) c.1081A>T (p.Lys361Ter) | |
11 | g.47343616T>C | CA380329485 | MYBPC3 | c.1099A>G (p.Lys367Glu) c.1081A>G (p.Lys361Glu) | |
11 | g.47343616T>G | CA380329484 | MYBPC3 | c.1099A>C (p.Lys367Gln) c.1081A>C (p.Lys361Gln) | |
11 | g.47343617C>A | CA380329494 | MYBPC3 | c.1098G>T (p.Gln366His) c.1080G>T (p.Gln360His) | gnomAD v4 |
11 | g.47343617C>G | CA380329495 | MYBPC3 | c.1098G>C (p.Gln366His) c.1080G>C (p.Gln360His) | |
11 | g.47343617C>T | CA474220602 | MYBPC3 | c.1098G>A (p.Gln366=) c.1080G>A (p.Gln360=) | |
11 | g.47343618T>A | CA380329496 | MYBPC3 | c.1097A>T (p.Gln366Leu) c.1079A>T (p.Gln360Leu) | |
11 | g.47343618T>C | CA380329497 | MYBPC3 | c.1097A>G (p.Gln366Arg) c.1079A>G (p.Gln360Arg) | gnomAD v4 |
11 | g.47343618T>G | CA380329498 | MYBPC3 | c.1097A>C (p.Gln366Pro) c.1079A>C (p.Gln360Pro) | ClinVar dbSNP |
11 | g.47343618T= | CA1969337430 | MYBPC3 | c.1097A= (p.Gln366=) c.1079A= (p.Gln360=) | |
11 | g.47343619G>A | CA380329499 | MYBPC3 | c.1096C>T (p.Gln366Ter) c.1078C>T (p.Gln360Ter) | ClinVar |
11 | g.47343619G>C | CA380329502 | MYBPC3 | c.1096C>G (p.Gln366Glu) c.1078C>G (p.Gln360Glu) | |
11 | g.47343619G>T | CA380329506 | MYBPC3 | c.1096C>A (p.Gln366Lys) c.1078C>A (p.Gln360Lys) | gnomAD v4 |
11 | g.47343620A>C | CA380329517 | MYBPC3 | c.1095T>G (p.Phe365Leu) c.1077T>G (p.Phe359Leu) | |
11 | g.47343620A>G | CA474220603 | MYBPC3 | c.1095T>C (p.Phe365=) c.1077T>C (p.Phe359=) | |
11 | g.47343620A>T | CA380329521 | MYBPC3 | c.1095T>A (p.Phe365Leu) c.1077T>A (p.Phe359Leu) | |
11 | g.47343622del | CA2613407235 | MYBPC3 | c.1095del (p.Gln366ArgfsTer10) c.1077del (p.Gln360ArgfsTer10) | gnomAD v4 |
11 | g.47343621A>C | CA380329524 | MYBPC3 | c.1094T>G (p.Phe365Cys) c.1076T>G (p.Phe359Cys) | |
11 | g.47343621A>G | CA380329527 | MYBPC3 | c.1094T>C (p.Phe365Ser) c.1076T>C (p.Phe359Ser) | ClinVar |
11 | g.47343621A>T | CA380329530 | MYBPC3 | c.1094T>A (p.Phe365Tyr) c.1076T>A (p.Phe359Tyr) | |
11 | g.47343622A>C | CA380329551 | MYBPC3 | c.1093T>G (p.Phe365Val) c.1075T>G (p.Phe359Val) | |
11 | g.47343622A>G | CA380329547 | MYBPC3 | c.1093T>C (p.Phe365Leu) c.1075T>C (p.Phe359Leu) | |
11 | g.47343622A>T | CA380329550 | MYBPC3 | c.1093T>A (p.Phe365Ile) c.1075T>A (p.Phe359Ile) | |
11 | g.47343623G>A | CA474220604 | MYBPC3 | c.1092C>T (p.Ala364=) c.1074C>T (p.Ala358=) | |
11 | g.47343623G>C | CA474220605 | MYBPC3 | c.1092C>G (p.Ala364=) c.1074C>G (p.Ala358=) | |
11 | g.47343623G>T | CA474220606 | MYBPC3 | c.1092C>A (p.Ala364=) c.1074C>A (p.Ala358=) | gnomAD v4 |
11 | g.47343624G>A | CA042737 | MYBPC3 | c.1091C>T (p.Ala364Val) c.1073C>T (p.Ala358Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343624G>C | CA380329560 | MYBPC3 | c.1091C>G (p.Ala364Gly) c.1073C>G (p.Ala358Gly) | |
11 | g.47343624G= | CA1969337433 | MYBPC3 | c.1091C= (p.Ala364=) c.1073C= (p.Ala358=) | |
11 | g.47343624G>T | CA380329568 | MYBPC3 | c.1091C>A (p.Ala364Asp) c.1073C>A (p.Ala358Asp) | gnomAD v4 |
11 | g.47343625C>A | CA380329570 | MYBPC3 | c.1091-1G>T (n.1091-1G>T) c.1073-1G>T (n.1073-1G>T) | gnomAD v4 |
11 | g.47343625C= | CA1969337441 | MYBPC3 | c.1091-1G= (n.1091-1G=) c.1073-1G= (n.1073-1G=) | |
11 | g.47343625C>G | CA380329571 | MYBPC3 | c.1091-1G>C (n.1091-1G>C) c.1073-1G>C (n.1073-1G>C) | |
11 | g.47343625C>T | CA009769 | MYBPC3 | c.1091-1G>A (n.1091-1G>A) c.1073-1G>A (n.1073-1G>A) | ClinVar dbSNP |
11 | g.47343626T>A | CA380329577 | MYBPC3 | c.1091-2A>T (n.1091-2A>T) c.1073-2A>T (n.1073-2A>T) | |
11 | g.47343626T>C | CA380329583 | MYBPC3 | c.1091-2A>G (n.1091-2A>G) c.1073-2A>G (n.1073-2A>G) | ClinVar dbSNP |
11 | g.47343626T>G | CA380329589 | MYBPC3 | c.1091-2A>C (n.1091-2A>C) c.1073-2A>C (n.1073-2A>C) | ClinVar |
11 | g.47343629G>A | CA1969337447 | MYBPC3 | c.1091-5C>T (n.1091-5C>T) c.1073-5C>T (n.1073-5C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.47343629G= | CA1969337446 | MYBPC3 | c.1091-5C= (n.1091-5C=) c.1073-5C= (n.1073-5C=) | |
11 | g.47343629G>T | CA2613407256 | MYBPC3 | c.1091-5C>A (n.1091-5C>A) c.1073-5C>A (n.1073-5C>A) | gnomAD v4 |
11 | g.47343630C>A | CA2613407257 | MYBPC3 | c.1091-6G>T (n.1091-6G>T) c.1073-6G>T (n.1073-6G>T) | dbSNP gnomAD v4 |
11 | g.47343630C>T | CA2613407258 | MYBPC3 | c.1091-6G>A (n.1091-6G>A) c.1073-6G>A (n.1073-6G>A) | gnomAD v4 |
11 | g.47343631A>G | CA2573147074 | MYBPC3 | c.1091-7T>C (n.1091-7T>C) c.1073-7T>C (n.1073-7T>C) | ClinVar dbSNP |
11 | g.47343631_47343642delinsACCACCCCTCAG | CA1969337449 | MYBPC3 | c.1091-18_1091-7delinsCTGAGGGGTGGT (n.1091-18_1091-7delinsCTGAGGGGTGGT) c.1073-18_1073-7delinsCTGAGGGGTGGT (n.1073-18_1073-7delinsCTGAGGGGTGGT) | |
11 | g.47343632C= | CA1969337452 | MYBPC3 | c.1091-8G= (n.1091-8G=) c.1073-8G= (n.1073-8G=) | |
11 | g.47343632C>G | CA2613407261 | MYBPC3 | c.1091-8G>C (n.1091-8G>C) c.1073-8G>C (n.1073-8G>C) | gnomAD v4 |
11 | g.47343632C>T | CA042724 | MYBPC3 | c.1091-8G>A (n.1091-8G>A) c.1073-8G>A (n.1073-8G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343634_47343644del | CA131355 | MYBPC3 | c.1091-18_1091-8del (n.1091-18_1091-8del) c.1073-18_1073-8del (n.1073-18_1073-8del) | ClinVar dbSNP |
11 | g.47343639_47343655del | CA2613407260 | MYBPC3 | c.1091-24_1091-8del (n.1091-24_1091-8del) c.1073-24_1073-8del (n.1073-24_1073-8del) | gnomAD v4 |
11 | g.47343633C>A | CA2613407267 | MYBPC3 | c.1091-9G>T (n.1091-9G>T) c.1073-9G>T (n.1073-9G>T) | gnomAD v4 |
11 | g.47343633C>T | CA2574816238 | MYBPC3 | c.1091-9G>A (n.1091-9G>A) c.1073-9G>A (n.1073-9G>A) | |
11 | g.47343634A= | CA1969337457 | MYBPC3 | c.1091-10T= (n.1091-10T=) c.1073-10T= (n.1073-10T=) | |
11 | g.47343634A>C | CA937656134 | MYBPC3 | c.1091-10T>G (n.1091-10T>G) c.1073-10T>G (n.1073-10T>G) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.47343634A>G | CA2613407268 | MYBPC3 | c.1091-10T>C (n.1091-10T>C) c.1073-10T>C (n.1073-10T>C) | gnomAD v4 |
11 | g.47343635C>A | CA2613407270 | MYBPC3 | c.1091-11G>T (n.1091-11G>T) c.1073-11G>T (n.1073-11G>T) | gnomAD v4 |
11 | g.47343635C>T | CA2613407271 | MYBPC3 | c.1091-11G>A (n.1091-11G>A) c.1073-11G>A (n.1073-11G>A) | gnomAD v4 |
11 | g.47343638del | CA2613407269 | MYBPC3 | c.1091-11del (n.1091-11del) c.1073-11del (n.1073-11del) | gnomAD v4 |
11 | g.47343636C>A | CA2613407272 | MYBPC3 | c.1091-12G>T (n.1091-12G>T) c.1073-12G>T (n.1073-12G>T) | gnomAD v4 |
11 | g.47343636C= | CA1969337459 | MYBPC3 | c.1091-12G= (n.1091-12G=) c.1073-12G= (n.1073-12G=) | |
11 | g.47343636C>T | CA042479 | MYBPC3 | c.1091-12G>A (n.1091-12G>A) c.1073-12G>A (n.1073-12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343637C>A | CA2613407274 | MYBPC3 | c.1091-13G>T (n.1091-13G>T) c.1073-13G>T (n.1073-13G>T) | gnomAD v4 |
11 | g.47343637C>T | CA2739265950 | MYBPC3 | c.1091-13G>A (n.1091-13G>A) c.1073-13G>A (n.1073-13G>A) | ClinVar |
11 | g.47343639_47343650del | CA2573332109 | MYBPC3 | c.1091-24_1091-13del (n.1091-24_1091-13del) c.1073-24_1073-13del (n.1073-24_1073-13del) | |
11 | g.47343638C>A | CA599059016 | MYBPC3 | c.1091-14G>T (n.1091-14G>T) c.1073-14G>T (n.1073-14G>T) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343638C= | CA1969337466 | MYBPC3 | c.1091-14G= (n.1091-14G=) c.1073-14G= (n.1073-14G=) | |
11 | g.47343638C>T | CA677001890 | MYBPC3 | c.1091-14G>A (n.1091-14G>A) c.1073-14G>A (n.1073-14G>A) | ClinVar dbSNP |
11 | g.47343639_47343640del | CA2739331999 | MYBPC3 | c.1091-15_1091-14del (n.1091-15_1091-14del) c.1073-15_1073-14del (n.1073-15_1073-14del) |