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.47343057_47343068del | CA2613404782 | MYBPC3 | c.1304_1315del (p.Gln435_Gly439delinsArg) c.1286_1297del (p.Gln429_Gly433delinsArg) | gnomAD v4 |
11 | g.47343061_47343062delinsCA | CA1969336653 | MYBPC3 | c.1310_1311delinsTG (p.Val437=) c.1292_1293delinsTG (p.Val431=) | |
11 | g.47343062del | CA010069 | MYBPC3 | c.1310del (p.Val437GlyfsTer13) c.1292del (p.Val431GlyfsTer13) | ClinVar dbSNP |
11 | g.47343062A>C | CA044614 | MYBPC3 | c.1310T>G (p.Val437Gly) c.1292T>G (p.Val431Gly) | |
11 | g.47343062A>G | CA380327057 | MYBPC3 | c.1310T>C (p.Val437Ala) c.1292T>C (p.Val431Ala) | |
11 | g.47343062A>T | CA380327062 | MYBPC3 | c.1310T>A (p.Val437Glu) c.1292T>A (p.Val431Glu) | |
11 | g.47343063C>A | CA077983 | MYBPC3 | c.1309G>T (p.Val437Leu) c.1291G>T (p.Val431Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343063C= | CA1969336663 | MYBPC3 | c.1309G= (p.Val437=) c.1291G= (p.Val431=) | |
11 | g.47343063C>G | CA380327073 | MYBPC3 | c.1309G>C (p.Val437Leu) c.1291G>C (p.Val431Leu) | |
11 | g.47343063C>T | CA010060 | MYBPC3 | c.1309G>A (p.Val437Met) c.1291G>A (p.Val431Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
11 | g.47343064G>A | CA077979 | MYBPC3 | c.1308C>T (p.Cys436=) c.1290C>T (p.Cys430=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.47343064G>C | CA380327084 | MYBPC3 | c.1308C>G (p.Cys436Trp) c.1290C>G (p.Cys430Trp) | |
11 | g.47343064G= | CA1969336669 | MYBPC3 | c.1308C= (p.Cys436=) c.1290C= (p.Cys430=) | |
11 | g.47343064G>T | CA380327087 | MYBPC3 | c.1308C>A (p.Cys436Ter) c.1290C>A (p.Cys430Ter) | ClinVar |
11 | g.47343065C>A | CA380327091 | MYBPC3 | c.1307G>T (p.Cys436Phe) c.1289G>T (p.Cys430Phe) | |
11 | g.47343065C>G | CA380327094 | MYBPC3 | c.1307G>C (p.Cys436Ser) c.1289G>C (p.Cys430Ser) | |
11 | g.47343065C>T | CA380327100 | MYBPC3 | c.1307G>A (p.Cys436Tyr) c.1289G>A (p.Cys430Tyr) | |
11 | g.47343066A= | CA1969336674 | MYBPC3 | c.1306T= (p.Cys436=) c.1288T= (p.Cys430=) | |
11 | g.47343066A>C | CA380327104 | MYBPC3 | c.1306T>G (p.Cys436Gly) c.1288T>G (p.Cys430Gly) | dbSNP |
11 | g.47343066A>G | CA380327105 | MYBPC3 | c.1306T>C (p.Cys436Arg) c.1288T>C (p.Cys430Arg) | |
11 | g.47343066A>T | CA380327106 | MYBPC3 | c.1306T>A (p.Cys436Ser) c.1288T>A (p.Cys430Ser) | |
11 | g.47343067C>A | CA380327113 | MYBPC3 | c.1305G>T (p.Gln435His) c.1287G>T (p.Gln429His) | ClinVar |
11 | g.47343067C= | CA1969336678 | MYBPC3 | c.1305G= (p.Gln435=) c.1287G= (p.Gln429=) | |
11 | g.47343067C>G | CA380327125 | MYBPC3 | c.1305G>C (p.Gln435His) c.1287G>C (p.Gln429His) | |
11 | g.47343067C>T | CA077976 | MYBPC3 | c.1305G>A (p.Gln435=) c.1287G>A (p.Gln429=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47343068T>A | CA380327130 | MYBPC3 | c.1304A>T (p.Gln435Leu) c.1286A>T (p.Gln429Leu) | |
11 | g.47343068T>C | CA380327134 | MYBPC3 | c.1304A>G (p.Gln435Arg) c.1286A>G (p.Gln429Arg) | |
11 | g.47343068T>G | CA380327135 | MYBPC3 | c.1304A>C (p.Gln435Pro) c.1286A>C (p.Gln429Pro) | |
11 | g.47343069G>A | CA380327136 | MYBPC3 | c.1303C>T (p.Gln435Ter) c.1285C>T (p.Gln429Ter) | ClinVar dbSNP gnomAD v4 |
11 | g.47343069G>C | CA380327139 | MYBPC3 | c.1303C>G (p.Gln435Glu) c.1285C>G (p.Gln429Glu) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47343069G= | CA1969336681 | MYBPC3 | c.1303C= (p.Gln435=) c.1285C= (p.Gln429=) | |
11 | g.47343069G>T | CA380327141 | MYBPC3 | c.1303C>A (p.Gln435Lys) c.1285C>A (p.Gln429Lys) | |
11 | g.47343070G>A | CA077974 | MYBPC3 | c.1302C>T (p.Tyr434=) c.1284C>T (p.Tyr428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343070G>C | CA380327146 | MYBPC3 | c.1302C>G (p.Tyr434Ter) c.1284C>G (p.Tyr428Ter) | ClinVar |
11 | g.47343070G= | CA1969336689 | MYBPC3 | c.1302C= (p.Tyr434=) c.1284C= (p.Tyr428=) | |
11 | g.47343070G>T | CA044146 | MYBPC3 | c.1302C>A (p.Tyr434Ter) c.1284C>A (p.Tyr428Ter) | ClinVar dbSNP |
11 | g.47343071T>A | CA380327156 | MYBPC3 | c.1301A>T (p.Tyr434Phe) c.1283A>T (p.Tyr428Phe) | |
11 | g.47343071T>C | CA380327161 | MYBPC3 | c.1301A>G (p.Tyr434Cys) c.1283A>G (p.Tyr428Cys) | |
11 | g.47343071T>G | CA380327165 | MYBPC3 | c.1301A>C (p.Tyr434Ser) c.1283A>C (p.Tyr428Ser) | gnomAD v4 |
11 | g.47343072A>C | CA380327170 | MYBPC3 | c.1300T>G (p.Tyr434Asp) c.1282T>G (p.Tyr428Asp) | |
11 | g.47343072A>G | CA380327193 | MYBPC3 | c.1300T>C (p.Tyr434His) c.1282T>C (p.Tyr428His) | ClinVar |
11 | g.47343072A>T | CA380327198 | MYBPC3 | c.1300T>A (p.Tyr434Asn) c.1282T>A (p.Tyr428Asn) | |
11 | g.47343073G>A | CA044108 | MYBPC3 | c.1299C>T (p.Ala433=) c.1281C>T (p.Ala427=) | |
11 | g.47343073G>C | CA474429545 | MYBPC3 | c.1299C>G (p.Ala433=) c.1281C>G (p.Ala427=) | |
11 | g.47343073G>T | CA474429547 | MYBPC3 | c.1299C>A (p.Ala433=) c.1281C>A (p.Ala427=) | |
11 | g.47343073_47343076delinsGGCT | CA1969336698 | MYBPC3 | c.1296_1299delinsAGCC (p.Ala432=) c.1278_1281delinsAGCC (p.Ala426=) | |
11 | g.47343074G>A | CA380327205 | MYBPC3 | c.1298C>T (p.Ala433Val) c.1280C>T (p.Ala427Val) | dbSNP gnomAD v2 |
11 | g.47343074G>C | CA380327212 | MYBPC3 | c.1298C>G (p.Ala433Gly) c.1280C>G (p.Ala427Gly) | ClinVar dbSNP gnomAD v4 |
11 | g.47343074G= | CA1969336702 | MYBPC3 | c.1298C= (p.Ala433=) c.1280C= (p.Ala427=) |