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.47342900G>A | CA010230 | MYBPC3 | c.1387C>T (p.Gln463Ter) c.1369C>T (p.Gln457Ter) | ClinVar dbSNP |
11 | g.47342900G>C | CA380326177 | MYBPC3 | c.1387C>G (p.Gln463Glu) c.1369C>G (p.Gln457Glu) | |
11 | g.47342900G= | CA1969336261 | MYBPC3 | c.1387C= (p.Gln463=) c.1369C= (p.Gln457=) | |
11 | g.47342900G>T | CA380326174 | MYBPC3 | c.1387C>A (p.Gln463Lys) c.1369C>A (p.Gln457Lys) | |
11 | g.47342901G>A | CA474429481 | MYBPC3 | c.1386C>T (p.Asp462=) c.1368C>T (p.Asp456=) | |
11 | g.47342901G>C | CA380326180 | MYBPC3 | c.1386C>G (p.Asp462Glu) c.1368C>G (p.Asp456Glu) | |
11 | g.47342901G= | CA1969336268 | MYBPC3 | c.1386C= (p.Asp462=) c.1368C= (p.Asp456=) | |
11 | g.47342901G>T | CA380326182 | MYBPC3 | c.1386C>A (p.Asp462Glu) c.1368C>A (p.Asp456Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342902T>A | CA380326187 | MYBPC3 | c.1385A>T (p.Asp462Val) c.1367A>T (p.Asp456Val) | |
11 | g.47342902T>C | CA380326188 | MYBPC3 | c.1385A>G (p.Asp462Gly) c.1367A>G (p.Asp456Gly) | ClinVar |
11 | g.47342902T>G | CA380326189 | MYBPC3 | c.1385A>C (p.Asp462Ala) c.1367A>C (p.Asp456Ala) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342902T= | CA1969336272 | MYBPC3 | c.1385A= (p.Asp462=) c.1367A= (p.Asp456=) | |
11 | g.47342903C>A | CA380326192 | MYBPC3 | c.1384G>T (p.Asp462Tyr) c.1366G>T (p.Asp456Tyr) | |
11 | g.47342903C= | CA1969336276 | MYBPC3 | c.1384G= (p.Asp462=) c.1366G= (p.Asp456=) | |
11 | g.47342903C>G | CA380326221 | MYBPC3 | c.1384G>C (p.Asp462His) c.1366G>C (p.Asp456His) | |
11 | g.47342903C>T | CA221696379 | MYBPC3 | c.1384G>A (p.Asp462Asn) c.1366G>A (p.Asp456Asn) | dbSNP gnomAD v4 |
11 | g.47342903_47342904dup | CA1139661934 | MYBPC3 | c.1383_1384dup (p.Asp462GlyfsTer5) c.1365_1366dup (p.Asp456GlyfsTer5) | ClinVar dbSNP |
11 | g.47342904C>A | CA380326224 | MYBPC3 | c.1383G>T (p.Glu461Asp) c.1365G>T (p.Glu455Asp) | gnomAD v4 |
11 | g.47342904C= | CA1969336279 | MYBPC3 | c.1383G= (p.Glu461=) c.1365G= (p.Glu455=) | |
11 | g.47342904C>G | CA380326225 | MYBPC3 | c.1383G>C (p.Glu461Asp) c.1365G>C (p.Glu455Asp) | ClinVar dbSNP |
11 | g.47342904C>T | CA474429482 | MYBPC3 | c.1383G>A (p.Glu461=) c.1365G>A (p.Glu455=) | ClinVar dbSNP gnomAD v2 |
11 | g.47342905T>A | CA380326234 | MYBPC3 | c.1382A>T (p.Glu461Val) c.1364A>T (p.Glu455Val) | COSMIC |
11 | g.47342905T>C | CA380326232 | MYBPC3 | c.1382A>G (p.Glu461Gly) c.1364A>G (p.Glu455Gly) | |
11 | g.47342905T>G | CA380326228 | MYBPC3 | c.1382A>C (p.Glu461Ala) c.1364A>C (p.Glu455Ala) | |
11 | g.47342906C>A | CA010222 | MYBPC3 | c.1381G>T (p.Glu461Ter) c.1363G>T (p.Glu455Ter) | dbSNP gnomAD v4 |
11 | g.47342906C= | CA1969336281 | MYBPC3 | c.1381G= (p.Glu461=) c.1363G= (p.Glu455=) | |
11 | g.47342906C>G | CA380326242 | MYBPC3 | c.1381G>C (p.Glu461Gln) c.1363G>C (p.Glu455Gln) | |
11 | g.47342906C>T | CA380326246 | MYBPC3 | c.1381G>A (p.Glu461Lys) c.1363G>A (p.Glu455Lys) | |
11 | g.47342907C>A | CA380326249 | MYBPC3 | c.1380G>T (p.Leu460Phe) c.1362G>T (p.Leu454Phe) | |
11 | g.47342907C>G | CA380326252 | MYBPC3 | c.1380G>C (p.Leu460Phe) c.1362G>C (p.Leu454Phe) | |
11 | g.47342907C>T | CA474429483 | MYBPC3 | c.1380G>A (p.Leu460=) c.1362G>A (p.Leu454=) | |
11 | g.47342908A= | CA1969336285 | MYBPC3 | c.1379T= (p.Leu460=) c.1361T= (p.Leu454=) | |
11 | g.47342908A>C | CA380326261 | MYBPC3 | c.1379T>G (p.Leu460Trp) c.1361T>G (p.Leu454Trp) | ClinVar dbSNP gnomAD v4 |
11 | g.47342908A>G | CA380326264 | MYBPC3 | c.1379T>C (p.Leu460Ser) c.1361T>C (p.Leu454Ser) | ClinVar dbSNP |
11 | g.47342908A>T | CA380326266 | MYBPC3 | c.1379T>A (p.Leu460Ter) c.1361T>A (p.Leu454Ter) | |
11 | g.47342908_47342909dup | CA2580084268 | MYBPC3 | c.1378_1379dup (p.Leu460PhefsTer7) c.1360_1361dup (p.Leu454PhefsTer7) | ClinVar |
11 | g.47342909A>C | CA380326270 | MYBPC3 | c.1378T>G (p.Leu460Val) c.1360T>G (p.Leu454Val) | gnomAD v4 |
11 | g.47342909A>G | CA474429484 | MYBPC3 | c.1378T>C (p.Leu460=) c.1360T>C (p.Leu454=) | |
11 | g.47342909A>T | CA380326272 | MYBPC3 | c.1378T>A (p.Leu460Met) c.1360T>A (p.Leu454Met) | gnomAD v4 |
11 | g.47342909_47342911delinsAGG | CA1969336288 | MYBPC3 | c.1376_1378delinsCCT (p.Pro459=) c.1358_1360delinsCCT (p.Pro453=) | |
11 | g.47342910G>A | CA474429487 | MYBPC3 | c.1377C>T (p.Pro459=) c.1359C>T (p.Pro453=) | gnomAD v4 |
11 | g.47342910G>C | CA474429485 | MYBPC3 | c.1377C>G (p.Pro459=) c.1359C>G (p.Pro453=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47342910G= | CA1969336293 | MYBPC3 | c.1377C= (p.Pro459=) c.1359C= (p.Pro453=) | |
11 | g.47342910G>T | CA474429488 | MYBPC3 | c.1377C>A (p.Pro459=) c.1359C>A (p.Pro453=) | |
11 | g.47342913dup | CA2573051154 | MYBPC3 | c.1377dup (p.Glu461GlyfsTer14) c.1359dup (p.Glu455GlyfsTer14) | |
11 | g.47342913del | CA010213 | MYBPC3 | c.1377del (p.Leu460TrpfsTer6) c.1359del (p.Leu454TrpfsTer6) | ClinVar dbSNP gnomAD v4 |
11 | g.47342912_47342913del | CA677000613 | MYBPC3 | c.1376_1377del (p.Pro459LeufsTer15) c.1358_1359del (p.Pro453LeufsTer15) | dbSNP |
11 | g.47342911G>A | CA380326281 | MYBPC3 | c.1376C>T (p.Pro459Leu) c.1358C>T (p.Pro453Leu) | gnomAD v4 |
11 | g.47342911G>C | CA380326280 | MYBPC3 | c.1376C>G (p.Pro459Arg) c.1358C>G (p.Pro453Arg) |