OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| 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.47342865_47342868del | CA2573051235 | MYBPC3 | c.1421_1424del (p.Glu474ValfsTer13) c.1403_1406del (p.Glu468ValfsTer13) | |
| 11 | g.47342868_47342873del | CA2695213905 | MYBPC3 | c.1418_1423del (p.Phe473_Glu474del) c.1400_1405del (p.Phe467_Glu468del) | |
| 11 | g.47342868A>C | CA380325881 | MYBPC3 | c.1419T>G (p.Phe473Leu) c.1401T>G (p.Phe467Leu) | |
| 11 | g.47342868A>G | CA474429441 | MYBPC3 | c.1419T>C (p.Phe473=) c.1401T>C (p.Phe467=) | gnomAD v4 |
| 11 | g.47342868A>T | CA380325885 | MYBPC3 | c.1419T>A (p.Phe473Leu) c.1401T>A (p.Phe467Leu) | |
| 11 | g.47342870dup | CA1139661933 | MYBPC3 | c.1419dup (p.Glu474Ter) c.1401dup (p.Glu468Ter) | ClinVar dbSNP |
| 11 | g.47342869A= | CA1969336219 | MYBPC3 | c.1418T= (p.Phe473=) c.1400T= (p.Phe467=) | |
| 11 | g.47342869A>C | CA380325897 | MYBPC3 | c.1418T>G (p.Phe473Cys) c.1400T>G (p.Phe467Cys) | |
| 11 | g.47342869A>G | CA010275 | MYBPC3 | c.1418T>C (p.Phe473Ser) c.1400T>C (p.Phe467Ser) | ClinVar dbSNP |
| 11 | g.47342869A>T | CA380325902 | MYBPC3 | c.1418T>A (p.Phe473Tyr) c.1400T>A (p.Phe467Tyr) | |
| 11 | g.47342870A>C | CA380325904 | MYBPC3 | c.1417T>G (p.Phe473Val) c.1399T>G (p.Phe467Val) | |
| 11 | g.47342870A>G | CA380325907 | MYBPC3 | c.1417T>C (p.Phe473Leu) c.1399T>C (p.Phe467Leu) | |
| 11 | g.47342870A>T | CA380325909 | MYBPC3 | c.1417T>A (p.Phe473Ile) c.1399T>A (p.Phe467Ile) | |
| 11 | g.47342871C>A | CA380325917 | MYBPC3 | c.1416G>T (p.Glu472Asp) c.1398G>T (p.Glu466Asp) | |
| 11 | g.47342871C>G | CA380325913 | MYBPC3 | c.1416G>C (p.Glu472Asp) c.1398G>C (p.Glu466Asp) | |
| 11 | g.47342871C>T | CA045208 | MYBPC3 | c.1416G>A (p.Glu472=) c.1398G>A (p.Glu466=) | |
| 11 | g.47342872T>A | CA380325924 | MYBPC3 | c.1415A>T (p.Glu472Val) c.1397A>T (p.Glu466Val) | |
| 11 | g.47342872T>C | CA380325929 | MYBPC3 | c.1415A>G (p.Glu472Gly) c.1397A>G (p.Glu466Gly) | ClinVar dbSNP |
| 11 | g.47342872T>G | CA380325933 | MYBPC3 | c.1415A>C (p.Glu472Ala) c.1397A>C (p.Glu466Ala) | |
| 11 | g.47342872T= | CA1969336221 | MYBPC3 | c.1415A= (p.Glu472=) c.1397A= (p.Glu466=) | |
| 11 | g.47342873C>A | CA380325941 | MYBPC3 | c.1414G>T (p.Glu472Ter) c.1396G>T (p.Glu466Ter) | |
| 11 | g.47342873C>G | CA380325947 | MYBPC3 | c.1414G>C (p.Glu472Gln) c.1396G>C (p.Glu466Gln) | |
| 11 | g.47342873C>T | CA380325951 | MYBPC3 | c.1414G>A (p.Glu472Lys) c.1396G>A (p.Glu466Lys) | |
| 11 | g.47342874C>A | CA474429447 | MYBPC3 | c.1413G>T (p.Val471=) c.1395G>T (p.Val465=) | |
| 11 | g.47342874C= | CA1969336223 | MYBPC3 | c.1413G= (p.Val471=) c.1395G= (p.Val465=) | |
| 11 | g.47342874C>G | CA474429446 | MYBPC3 | c.1413G>C (p.Val471=) c.1395G>C (p.Val465=) | |
| 11 | g.47342874C>T | CA474429445 | MYBPC3 | c.1413G>A (p.Val471=) c.1395G>A (p.Val465=) | dbSNP gnomAD v4 |
| 11 | g.47342874_47342875delinsAT | CA2695213906 | MYBPC3 | c.1412_1413delinsAT (p.Val471Asp) c.1394_1395delinsAT (p.Val465Asp) | |
| 11 | g.47342875A= | CA1969336226 | MYBPC3 | c.1412T= (p.Val471=) c.1394T= (p.Val465=) | |
| 11 | g.47342875A>C | CA380325954 | MYBPC3 | c.1412T>G (p.Val471Gly) c.1394T>G (p.Val465Gly) | dbSNP |
| 11 | g.47342875A>G | CA380325956 | MYBPC3 | c.1412T>C (p.Val471Ala) c.1394T>C (p.Val465Ala) | |
| 11 | g.47342875A>T | CA380325958 | MYBPC3 | c.1412T>A (p.Val471Glu) c.1394T>A (p.Val465Glu) | |
| 11 | g.47342875_47342877delinsACC | CA1969336225 | MYBPC3 | c.1410_1412delinsGGT (p.Arg470=) c.1392_1394delinsGGT (p.Arg464=) | |
| 11 | g.47342876C>A | CA380325960 | MYBPC3 | c.1411G>T (p.Val471Leu) c.1393G>T (p.Val465Leu) | gnomAD v4 |
| 11 | g.47342876C= | CA1969336228 | MYBPC3 | c.1411G= (p.Val471=) c.1393G= (p.Val465=) | |
| 11 | g.47342876C>G | CA380325965 | MYBPC3 | c.1411G>C (p.Val471Leu) c.1393G>C (p.Val465Leu) | ClinVar dbSNP |
| 11 | g.47342876C>T | CA380325966 | MYBPC3 | c.1411G>A (p.Val471Met) c.1393G>A (p.Val465Met) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342877_47342878del | CA010266 | MYBPC3 | c.1410_1411del (p.Val471GlyfsTer3) c.1392_1393del (p.Val465GlyfsTer3) | ClinVar dbSNP |
| 11 | g.47342877C>A | CA474429453 | MYBPC3 | c.1410G>T (p.Arg470=) c.1392G>T (p.Arg464=) | |
| 11 | g.47342877C= | CA1969336230 | MYBPC3 | c.1410G= (p.Arg470=) c.1392G= (p.Arg464=) | |
| 11 | g.47342877C>G | CA474429454 | MYBPC3 | c.1410G>C (p.Arg470=) c.1392G>C (p.Arg464=) | |
| 11 | g.47342877C>T | CA474429455 | MYBPC3 | c.1410G>A (p.Arg470=) c.1392G>A (p.Arg464=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342878C>A | CA380325986 | MYBPC3 | c.1409G>T (p.Arg470Leu) c.1391G>T (p.Arg464Leu) | |
| 11 | g.47342878C= | CA1969336232 | MYBPC3 | c.1409G= (p.Arg470=) c.1391G= (p.Arg464=) | |
| 11 | g.47342878C>G | CA380325984 | MYBPC3 | c.1409G>C (p.Arg470Pro) c.1391G>C (p.Arg464Pro) | |
| 11 | g.47342878C>T | CA078071 | MYBPC3 | c.1409G>A (p.Arg470Gln) c.1391G>A (p.Arg464Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342879G>A | CA380326001 | MYBPC3 | c.1408C>T (p.Arg470Trp) c.1390C>T (p.Arg464Trp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342879G>C | CA380326005 | MYBPC3 | c.1408C>G (p.Arg470Gly) c.1390C>G (p.Arg464Gly) | ClinVar dbSNP |
| 11 | g.47342879G= | CA1969336234 | MYBPC3 | c.1408C= (p.Arg470=) c.1390C= (p.Arg464=) | |
| 11 | g.47342879G>T | CA474429456 | MYBPC3 | c.1408C>A (p.Arg470=) c.1390C>A (p.Arg464=) | |
| 11 | g.47342880C>A | CA380326009 | MYBPC3 | c.1407G>T (p.Gln469His) c.1389G>T (p.Gln463His) | |
| 11 | g.47342880C>G | CA380326010 | MYBPC3 | c.1407G>C (p.Gln469His) c.1389G>C (p.Gln463His) | |
| 11 | g.47342880C>T | CA474429459 | MYBPC3 | c.1407G>A (p.Gln469=) c.1389G>A (p.Gln463=) | |
| 11 | g.47342881T>A | CA380326011 | MYBPC3 | c.1406A>T (p.Gln469Leu) c.1388A>T (p.Gln463Leu) | |
| 11 | g.47342881T>C | CA380326014 | MYBPC3 | c.1406A>G (p.Gln469Arg) c.1388A>G (p.Gln463Arg) | |
| 11 | g.47342881T>G | CA380326016 | MYBPC3 | c.1406A>C (p.Gln469Pro) c.1388A>C (p.Gln463Pro) | |
| 11 | g.47342882G>A | CA010259 | MYBPC3 | c.1405C>T (p.Gln469Ter) c.1387C>T (p.Gln463Ter) | ClinVar dbSNP |
| 11 | g.47342882G>C | CA078069 | MYBPC3 | c.1405C>G (p.Gln469Glu) c.1387C>G (p.Gln463Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342882G= | CA1969336236 | MYBPC3 | c.1405C= (p.Gln469=) c.1387C= (p.Gln463=) | |
| 11 | g.47342882G>T | CA380326027 | MYBPC3 | c.1405C>A (p.Gln469Lys) c.1387C>A (p.Gln463Lys) | |
| 11 | g.47342882_47342883delinsGC | CA1969336237 | MYBPC3 | c.1404_1405delinsGC (p.Gly468=) c.1386_1387delinsGC (p.Gly462=) | |
| 11 | g.47342883C>A | CA474429462 | MYBPC3 | c.1404G>T (p.Gly468=) c.1386G>T (p.Gly462=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342883C= | CA1969336240 | MYBPC3 | c.1404G= (p.Gly468=) c.1386G= (p.Gly462=) | |
| 11 | g.47342883C>G | CA474429461 | MYBPC3 | c.1404G>C (p.Gly468=) c.1386G>C (p.Gly462=) | |
| 11 | g.47342883C>T | CA474429460 | MYBPC3 | c.1404G>A (p.Gly468=) c.1386G>A (p.Gly462=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342886del | CA10586354 | MYBPC3 | c.1404del (p.Gln469SerfsTer19) c.1386del (p.Gln463SerfsTer19) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342884C>A | CA380326033 | MYBPC3 | c.1403G>T (p.Gly468Val) c.1385G>T (p.Gly462Val) | |
| 11 | g.47342884C>G | CA380326034 | MYBPC3 | c.1403G>C (p.Gly468Ala) c.1385G>C (p.Gly462Ala) | |
| 11 | g.47342884C>T | CA380326035 | MYBPC3 | c.1403G>A (p.Gly468Glu) c.1385G>A (p.Gly462Glu) | |
| 11 | g.47342885C>A | CA380326048 | MYBPC3 | c.1402G>T (p.Gly468Trp) c.1384G>T (p.Gly462Trp) | |
| 11 | g.47342885C>G | CA380326044 | MYBPC3 | c.1402G>C (p.Gly468Arg) c.1384G>C (p.Gly462Arg) | |
| 11 | g.47342885C>T | CA380326040 | MYBPC3 | c.1402G>A (p.Gly468Arg) c.1384G>A (p.Gly462Arg) | |
| 11 | g.47342886C>A | CA474429464 | MYBPC3 | c.1401G>T (p.Val467=) c.1383G>T (p.Val461=) | |
| 11 | g.47342886C>G | CA474429465 | MYBPC3 | c.1401G>C (p.Val467=) c.1383G>C (p.Val461=) | |
| 11 | g.47342886C>T | CA474429466 | MYBPC3 | c.1401G>A (p.Val467=) c.1383G>A (p.Val461=) | dbSNP |
| 11 | g.47342887A>C | CA380326053 | MYBPC3 | c.1400T>G (p.Val467Gly) c.1382T>G (p.Val461Gly) | |
| 11 | g.47342887A>G | CA380326056 | MYBPC3 | c.1400T>C (p.Val467Ala) c.1382T>C (p.Val461Ala) | |
| 11 | g.47342887A>T | CA380326061 | MYBPC3 | c.1400T>A (p.Val467Glu) c.1382T>A (p.Val461Glu) | |
| 11 | g.47342888C>A | CA380326065 | MYBPC3 | c.1399G>T (p.Val467Leu) c.1381G>T (p.Val461Leu) | gnomAD v4 |
| 11 | g.47342888C= | CA1969336242 | MYBPC3 | c.1399G= (p.Val467=) c.1381G= (p.Val461=) | |
| 11 | g.47342888C>G | CA380326067 | MYBPC3 | c.1399G>C (p.Val467Leu) c.1381G>C (p.Val461Leu) | |
| 11 | g.47342888C>T | CA380326068 | MYBPC3 | c.1399G>A (p.Val467Met) c.1381G>A (p.Val461Met) | dbSNP |
| 11 | g.47342889C>A | CA380326069 | MYBPC3 | c.1398G>T (p.Met466Ile) c.1380G>T (p.Met460Ile) | |
| 11 | g.47342889C= | CA1969336244 | MYBPC3 | c.1398G= (p.Met466=) c.1380G= (p.Met460=) | |
| 11 | g.47342889C>G | CA380326070 | MYBPC3 | c.1398G>C (p.Met466Ile) c.1380G>C (p.Met460Ile) | dbSNP |
| 11 | g.47342889C>T | CA380326073 | MYBPC3 | c.1398G>A (p.Met466Ile) c.1380G>A (p.Met460Ile) | gnomAD v4 |
| 11 | g.47342890A= | CA1969336245 | MYBPC3 | c.1397T= (p.Met466=) c.1379T= (p.Met460=) | |
| 11 | g.47342890A>C | CA380326075 | MYBPC3 | c.1397T>G (p.Met466Arg) c.1379T>G (p.Met460Arg) | |
| 11 | g.47342890A>G | CA380326078 | MYBPC3 | c.1397T>C (p.Met466Thr) c.1379T>C (p.Met460Thr) | |
| 11 | g.47342890A>T | CA010241 | MYBPC3 | c.1397T>A (p.Met466Lys) c.1379T>A (p.Met460Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342891T>A | CA380326088 | MYBPC3 | c.1396A>T (p.Met466Leu) c.1378A>T (p.Met460Leu) | |
| 11 | g.47342891T>C | CA380326087 | MYBPC3 | c.1396A>G (p.Met466Val) c.1378A>G (p.Met460Val) | ClinVar dbSNP |
| 11 | g.47342891T>G | CA380326086 | MYBPC3 | c.1396A>C (p.Met466Leu) c.1378A>C (p.Met460Leu) | |
| 11 | g.47342892C>A | CA474429468 | MYBPC3 | c.1395G>T (p.Val465=) c.1377G>T (p.Val459=) | |
| 11 | g.47342892C= | CA1969336247 | MYBPC3 | c.1395G= (p.Val465=) c.1377G= (p.Val459=) | |
| 11 | g.47342892C>G | CA474429469 | MYBPC3 | c.1395G>C (p.Val465=) c.1377G>C (p.Val459=) | |
| 11 | g.47342892C>T | CA078062 | MYBPC3 | c.1395G>A (p.Val465=) c.1377G>A (p.Val459=) | dbSNP ExAC gnomAD v4 |
| 11 | g.47342893A= | CA1969336249 | MYBPC3 | c.1394T= (p.Val465=) c.1376T= (p.Val459=) | |
| 11 | g.47342893A>C | CA380326096 | MYBPC3 | c.1394T>G (p.Val465Gly) c.1376T>G (p.Val459Gly) | |
| 11 | g.47342893A>G | CA380326094 | MYBPC3 | c.1394T>C (p.Val465Ala) c.1376T>C (p.Val459Ala) | |
| 11 | g.47342893A>T | CA044844 | MYBPC3 | c.1394T>A (p.Val465Glu) c.1376T>A (p.Val459Glu) | |
| 11 | g.47342894C>A | CA380326103 | MYBPC3 | c.1393G>T (p.Val465Leu) c.1375G>T (p.Val459Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342894C= | CA1969336252 | MYBPC3 | c.1393G= (p.Val465=) c.1375G= (p.Val459=) | |
| 11 | g.47342894C>G | CA380326107 | MYBPC3 | c.1393G>C (p.Val465Leu) c.1375G>C (p.Val459Leu) | gnomAD v4 |
| 11 | g.47342894C>T | CA380326119 | MYBPC3 | c.1393G>A (p.Val465Met) c.1375G>A (p.Val459Met) | ClinVar |
| 11 | g.47342895dup | CA913190283 | MYBPC3 | c.1393dup (p.Val465GlyfsTer10) c.1375dup (p.Val459GlyfsTer10) | ClinVar dbSNP |
| 11 | g.47342895C>A | CA474429473 | MYBPC3 | c.1392G>T (p.Leu464=) c.1374G>T (p.Leu458=) | |
| 11 | g.47342895C= | CA1969336256 | MYBPC3 | c.1392G= (p.Leu464=) c.1374G= (p.Leu458=) | |
| 11 | g.47342895C>G | CA474429474 | MYBPC3 | c.1392G>C (p.Leu464=) c.1374G>C (p.Leu458=) | |
| 11 | g.47342895C>T | CA044830 | MYBPC3 | c.1392G>A (p.Leu464=) c.1374G>A (p.Leu458=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342896A>C | CA380326123 | MYBPC3 | c.1391T>G (p.Leu464Arg) c.1373T>G (p.Leu458Arg) | |
| 11 | g.47342896A>G | CA380326130 | MYBPC3 | c.1391T>C (p.Leu464Pro) c.1373T>C (p.Leu458Pro) | |
| 11 | g.47342896A>T | CA380326134 | MYBPC3 | c.1391T>A (p.Leu464Gln) c.1373T>A (p.Leu458Gln) | |
| 11 | g.47342897G>A | CA474429475 | MYBPC3 | c.1390C>T (p.Leu464=) c.1372C>T (p.Leu458=) | gnomAD v4 |
| 11 | g.47342897G>C | CA380326136 | MYBPC3 | c.1390C>G (p.Leu464Val) c.1372C>G (p.Leu458Val) | gnomAD v4 |
| 11 | g.47342897G>T | CA380326138 | MYBPC3 | c.1390C>A (p.Leu464Met) c.1372C>A (p.Leu458Met) | |
| 11 | g.47342898C>A | CA380326140 | MYBPC3 | c.1389G>T (p.Gln463His) c.1371G>T (p.Gln457His) | |
| 11 | g.47342898C>G | CA380326146 | MYBPC3 | c.1389G>C (p.Gln463His) c.1371G>C (p.Gln457His) | |
| 11 | g.47342898C>T | CA474429477 | MYBPC3 | c.1389G>A (p.Gln463=) c.1371G>A (p.Gln457=) | |
| 11 | g.47342899T>A | CA380326160 | MYBPC3 | c.1388A>T (p.Gln463Leu) c.1370A>T (p.Gln457Leu) | |
| 11 | g.47342899T>C | CA380326161 | MYBPC3 | c.1388A>G (p.Gln463Arg) c.1370A>G (p.Gln457Arg) | |
| 11 | g.47342899T>G | CA380326163 | MYBPC3 | c.1388A>C (p.Gln463Pro) c.1370A>C (p.Gln457Pro) | |
| 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) | |
| 11 | g.47342911G>T | CA380326277 | MYBPC3 | c.1376C>A (p.Pro459His) c.1358C>A (p.Pro453His) | |
| 11 | g.47342912G>A | CA078058 | MYBPC3 | c.1375C>T (p.Pro459Ser) c.1357C>T (p.Pro453Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342912G>C | CA380326282 | MYBPC3 | c.1375C>G (p.Pro459Ala) c.1357C>G (p.Pro453Ala) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342912G= | CA1969336297 | MYBPC3 | c.1375C= (p.Pro459=) c.1357C= (p.Pro453=) | |
| 11 | g.47342912G>T | CA380326284 | MYBPC3 | c.1375C>A (p.Pro459Thr) c.1357C>A (p.Pro453Thr) | |
| 11 | g.47342913G>A | CA16606326 | MYBPC3 | c.1374C>T (p.Arg458=) c.1356C>T (p.Arg452=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342913G>C | CA474429490 | MYBPC3 | c.1374C>G (p.Arg458=) c.1356C>G (p.Arg452=) | |
| 11 | g.47342913G= | CA1969336303 | MYBPC3 | c.1374C= (p.Arg458=) c.1356C= (p.Arg452=) | |
| 11 | g.47342913G>T | CA474429489 | MYBPC3 | c.1374C>A (p.Arg458=) c.1356C>A (p.Arg452=) | |
| 11 | g.47342915_47342925del | CA2573147069 | MYBPC3 | c.1364_1374del (p.Leu455ProfsTer16) c.1346_1356del (p.Leu449ProfsTer16) | ClinVar dbSNP |
| 11 | g.47342914C>A | CA380326289 | MYBPC3 | c.1373G>T (p.Arg458Leu) c.1355G>T (p.Arg452Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342914C= | CA1969336309 | MYBPC3 | c.1373G= (p.Arg458=) c.1355G= (p.Arg452=) | |
| 11 | g.47342914C>G | CA380326295 | MYBPC3 | c.1373G>C (p.Arg458Pro) c.1355G>C (p.Arg452Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342914C>T | CA010205 | MYBPC3 | c.1373G>A (p.Arg458His) c.1355G>A (p.Arg452His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342915G>A | CA010194 | MYBPC3 | c.1372C>T (p.Arg458Cys) c.1354C>T (p.Arg452Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342915G>C | CA380326309 | MYBPC3 | c.1372C>G (p.Arg458Gly) c.1354C>G (p.Arg452Gly) | |
| 11 | g.47342915G= | CA1969336316 | MYBPC3 | c.1372C= (p.Arg458=) c.1354C= (p.Arg452=) | |
| 11 | g.47342915G>T | CA380326311 | MYBPC3 | c.1372C>A (p.Arg458Ser) c.1354C>A (p.Arg452Ser) | |
| 11 | g.47342916C>A | CA474429491 | MYBPC3 | c.1371G>T (p.Thr457=) c.1353G>T (p.Thr451=) | gnomAD v4 |
| 11 | g.47342916C= | CA1969336322 | MYBPC3 | c.1371G= (p.Thr457=) c.1353G= (p.Thr451=) | |
| 11 | g.47342916C>G | CA474429492 | MYBPC3 | c.1371G>C (p.Thr457=) c.1353G>C (p.Thr451=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342916C>T | CA221696424 | MYBPC3 | c.1371G>A (p.Thr457=) c.1353G>A (p.Thr451=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342917G>A | CA010187 | MYBPC3 | c.1370C>T (p.Thr457Met) c.1352C>T (p.Thr451Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342917G>C | CA380326330 | MYBPC3 | c.1370C>G (p.Thr457Arg) c.1352C>G (p.Thr451Arg) | gnomAD v4 |
| 11 | g.47342917G= | CA1969336328 | MYBPC3 | c.1370C= (p.Thr457=) c.1352C= (p.Thr451=) | |
| 11 | g.47342917G>T | CA380326333 | MYBPC3 | c.1370C>A (p.Thr457Lys) c.1352C>A (p.Thr451Lys) | gnomAD v4 |
| 11 | g.47342918T>A | CA380326343 | MYBPC3 | c.1369A>T (p.Thr457Ser) c.1351A>T (p.Thr451Ser) | |
| 11 | g.47342918T>C | CA380326346 | MYBPC3 | c.1369A>G (p.Thr457Ala) c.1351A>G (p.Thr451Ala) | ClinVar dbSNP |
| 11 | g.47342918T>G | CA380326340 | MYBPC3 | c.1369A>C (p.Thr457Pro) c.1351A>C (p.Thr451Pro) | |
| 11 | g.47342918T= | CA1969336332 | MYBPC3 | c.1369A= (p.Thr457=) c.1351A= (p.Thr451=) | |
| 11 | g.47342919G>A | CA474429493 | MYBPC3 | c.1368C>T (p.Ile456=) c.1350C>T (p.Ile450=) | |
| 11 | g.47342919G>C | CA380326354 | MYBPC3 | c.1368C>G (p.Ile456Met) c.1350C>G (p.Ile450Met) | |
| 11 | g.47342919G>T | CA474429494 | MYBPC3 | c.1368C>A (p.Ile456=) c.1350C>A (p.Ile450=) | |
| 11 | g.47342919_47342920delinsGA | CA1969336333 | MYBPC3 | c.1367_1368delinsTC (p.Ile456=) c.1349_1350delinsTC (p.Ile450=) | |
| 11 | g.47342920del | CA915948158 | MYBPC3 | c.1367del (p.Ile456ThrfsTer10) c.1349del (p.Ile450ThrfsTer10) | ClinVar dbSNP |
| 11 | g.47342920A>C | CA380326358 | MYBPC3 | c.1367T>G (p.Ile456Ser) c.1349T>G (p.Ile450Ser) | |
| 11 | g.47342920A>G | CA380326359 | MYBPC3 | c.1367T>C (p.Ile456Thr) c.1349T>C (p.Ile450Thr) | |
| 11 | g.47342920A>T | CA380326360 | MYBPC3 | c.1367T>A (p.Ile456Asn) c.1349T>A (p.Ile450Asn) | |
| 11 | g.47342921T>A | CA380326363 | MYBPC3 | c.1366A>T (p.Ile456Phe) c.1348A>T (p.Ile450Phe) | |
| 11 | g.47342921T>C | CA380326365 | MYBPC3 | c.1366A>G (p.Ile456Val) c.1348A>G (p.Ile450Val) | |
| 11 | g.47342921T>G | CA380326366 | MYBPC3 | c.1366A>C (p.Ile456Leu) c.1348A>C (p.Ile450Leu) | dbSNP |
| 11 | g.47342921T= | CA1969336338 | MYBPC3 | c.1366A= (p.Ile456=) c.1348A= (p.Ile450=) | |
| 11 | g.47342922G>A | CA078052 | MYBPC3 | c.1365C>T (p.Leu455=) c.1347C>T (p.Leu449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342922G>C | CA474429495 | MYBPC3 | c.1365C>G (p.Leu455=) c.1347C>G (p.Leu449=) | |
| 11 | g.47342922G= | CA1969336343 | MYBPC3 | c.1365C= (p.Leu455=) c.1347C= (p.Leu449=) | |
| 11 | g.47342922G>T | CA474429496 | MYBPC3 | c.1365C>A (p.Leu455=) c.1347C>A (p.Leu449=) | |
| 11 | g.47342923del | CA2580084271 | MYBPC3 | c.1364del (p.Leu455ProfsTer11) c.1346del (p.Leu449ProfsTer11) | ClinVar |
| 11 | g.47342923A>C | CA380326372 | MYBPC3 | c.1364T>G (p.Leu455Arg) c.1346T>G (p.Leu449Arg) | ClinVar |
| 11 | g.47342923A>G | CA380326376 | MYBPC3 | c.1364T>C (p.Leu455Pro) c.1346T>C (p.Leu449Pro) | |
| 11 | g.47342923A>T | CA380326379 | MYBPC3 | c.1364T>A (p.Leu455His) c.1346T>A (p.Leu449His) | |
| 11 | g.47342924G>A | CA078049 | MYBPC3 | c.1363C>T (p.Leu455Phe) c.1345C>T (p.Leu449Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342924G>C | CA380326384 | MYBPC3 | c.1363C>G (p.Leu455Val) c.1345C>G (p.Leu449Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342924G= | CA1969336351 | MYBPC3 | c.1363C= (p.Leu455=) c.1345C= (p.Leu449=) | |
| 11 | g.47342924G>T | CA380326386 | MYBPC3 | c.1363C>A (p.Leu455Ile) c.1345C>A (p.Leu449Ile) | gnomAD v4 |
| 11 | g.47342925C>A | CA474429497 | MYBPC3 | c.1362G>T (p.Val454=) c.1344G>T (p.Val448=) | gnomAD v4 |
| 11 | g.47342925C>G | CA474429498 | MYBPC3 | c.1362G>C (p.Val454=) c.1344G>C (p.Val448=) | |
| 11 | g.47342925C>T | CA474429499 | MYBPC3 | c.1362G>A (p.Val454=) c.1344G>A (p.Val448=) | |
| 11 | g.47342926A= | CA1969336363 | MYBPC3 | c.1361T= (p.Val454=) c.1343T= (p.Val448=) | |
| 11 | g.47342926A>C | CA380326402 | MYBPC3 | c.1361T>G (p.Val454Gly) c.1343T>G (p.Val448Gly) | |
| 11 | g.47342926A>G | CA078046 | MYBPC3 | c.1361T>C (p.Val454Ala) c.1343T>C (p.Val448Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342926A>T | CA380326398 | MYBPC3 | c.1361T>A (p.Val454Glu) c.1343T>A (p.Val448Glu) | |
| 11 | g.47342927C>A | CA380326409 | MYBPC3 | c.1360G>T (p.Val454Leu) c.1342G>T (p.Val448Leu) | gnomAD v4 |
| 11 | g.47342927C>G | CA380326423 | MYBPC3 | c.1360G>C (p.Val454Leu) c.1342G>C (p.Val448Leu) | |
| 11 | g.47342927C>T | CA380326426 | MYBPC3 | c.1360G>A (p.Val454Met) c.1342G>A (p.Val448Met) | |
| 11 | g.47342927_47342928delinsCA | CA1969336366 | MYBPC3 | c.1359_1360delinsTG (p.Pro453=) c.1341_1342delinsTG (p.Pro447=) | |
| 11 | g.47342928del | CA279624 | MYBPC3 | c.1359del (p.Val454CysfsTer12) c.1341del (p.Val448CysfsTer12) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342928A>C | CA474429500 | MYBPC3 | c.1359T>G (p.Pro453=) c.1341T>G (p.Pro447=) | |
| 11 | g.47342928A>G | CA474429501 | MYBPC3 | c.1359T>C (p.Pro453=) c.1341T>C (p.Pro447=) | |
| 11 | g.47342928A>T | CA474429502 | MYBPC3 | c.1359T>A (p.Pro453=) c.1341T>A (p.Pro447=) | |
| 11 | g.47342928_47342929del | CA2573051134 | MYBPC3 | c.1358_1359del (p.Pro453ArgfsTer21) c.1340_1341del (p.Pro447ArgfsTer21) | |
| 11 | g.47342928_47342930delinsAGG | CA1969336372 | MYBPC3 | c.1357_1359delinsCCT (p.Pro453=) c.1339_1341delinsCCT (p.Pro447=) | |
| 11 | g.47342929G>A | CA010177 | MYBPC3 | c.1358C>T (p.Pro453Leu) c.1340C>T (p.Pro447Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342929G>C | CA380326446 | MYBPC3 | c.1358C>G (p.Pro453Arg) c.1340C>G (p.Pro447Arg) | |
| 11 | g.47342929G= | CA1969336382 | MYBPC3 | c.1358C= (p.Pro453=) c.1340C= (p.Pro447=) | |
| 11 | g.47342929G>T | CA380326449 | MYBPC3 | c.1358C>A (p.Pro453His) c.1340C>A (p.Pro447His) | |
| 11 | g.47342933dup | CA279328 | MYBPC3 | c.1358dup (p.Val454CysfsTer21) c.1340dup (p.Val448CysfsTer21) | ClinVar dbSNP |
| 11 | g.47342933del | CA645578324 | MYBPC3 | c.1358del (p.Pro453LeufsTer13) c.1340del (p.Pro447LeufsTer13) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47342932_47342933del | CA010169 | MYBPC3 | c.1357_1358del (p.Pro453CysfsTer21) c.1339_1340del (p.Pro447CysfsTer21) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342930G>A | CA277675 | MYBPC3 | c.1357C>T (p.Pro453Ser) c.1339C>T (p.Pro447Ser) | ClinVar dbSNP |
| 11 | g.47342930G>C | CA078043 | MYBPC3 | c.1357C>G (p.Pro453Ala) c.1339C>G (p.Pro447Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342930G= | CA1969336395 | MYBPC3 | c.1357C= (p.Pro453=) c.1339C= (p.Pro447=) | |
| 11 | g.47342930G>T | CA380326461 | MYBPC3 | c.1357C>A (p.Pro453Thr) c.1339C>A (p.Pro447Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342931G>A | CA474429503 | MYBPC3 | c.1356C>T (p.Pro452=) c.1338C>T (p.Pro446=) | gnomAD v4 |
| 11 | g.47342931G>C | CA474429505 | MYBPC3 | c.1356C>G (p.Pro452=) c.1338C>G (p.Pro446=) | |
| 11 | g.47342931G>T | CA474429504 | MYBPC3 | c.1356C>A (p.Pro452=) c.1338C>A (p.Pro446=) | gnomAD v4 |
| 11 | g.47342931_47342937delinsGGGCTCT | CA1969336405 | MYBPC3 | c.1352-2_1356delinsAGAGCCC c.1334-2_1338delinsAGAGCCC | |
| 11 | g.47342932G>A | CA044680 | MYBPC3 | c.1355C>T (p.Pro452Leu) c.1337C>T (p.Pro446Leu) | gnomAD v4 |
| 11 | g.47342932G>C | CA380326467 | MYBPC3 | c.1355C>G (p.Pro452Arg) c.1337C>G (p.Pro446Arg) | |
| 11 | g.47342932G= | CA1969336414 | MYBPC3 | c.1355C= (p.Pro452=) c.1337C= (p.Pro446=) | |
| 11 | g.47342932G>T | CA010163 | MYBPC3 | c.1355C>A (p.Pro452His) c.1337C>A (p.Pro446His) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342933_47342938del | CA1139661935 | MYBPC3 | c.1352-2_1355del c.1334-2_1337del | ClinVar dbSNP |
| 11 | g.47342933G>A | CA380326471 | MYBPC3 | c.1354C>T (p.Pro452Ser) c.1336C>T (p.Pro446Ser) | gnomAD v4 |
| 11 | g.47342933G>C | CA044664 | MYBPC3 | c.1354C>G (p.Pro452Ala) c.1336C>G (p.Pro446Ala) | ClinVar |
| 11 | g.47342933G>T | CA380326481 | MYBPC3 | c.1354C>A (p.Pro452Thr) c.1336C>A (p.Pro446Thr) | |
| 11 | g.47342934del | CA2499220975 | MYBPC3 | c.1353del (p.Glu451AspfsTer15) c.1335del (p.Glu445AspfsTer15) | ClinVar dbSNP |
| 11 | g.47342934C>A | CA380326488 | MYBPC3 | c.1353G>T (p.Glu451Asp) c.1335G>T (p.Glu445Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342934C= | CA1969336420 | MYBPC3 | c.1353G= (p.Glu451=) c.1335G= (p.Glu445=) | |
| 11 | g.47342934C>G | CA380326491 | MYBPC3 | c.1353G>C (p.Glu451Asp) c.1335G>C (p.Glu445Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342934C>T | CA474429506 | MYBPC3 | c.1353G>A (p.Glu451=) c.1335G>A (p.Glu445=) | |
| 11 | g.47342934_47342937dup | CA2580615695 | MYBPC3 | c.1352-2_1353dup c.1334-2_1335dup | ClinVar |
| 11 | g.47342936_47342937del | CA2499307103 | MYBPC3 | c.1352_1353del c.1334_1335del | |
| 11 | g.47342935T>A | CA380326500 | MYBPC3 | c.1352A>T (p.Glu451Val) c.1334A>T (p.Glu445Val) | ClinVar |
| 11 | g.47342935T>C | CA380326501 | MYBPC3 | c.1352A>G (p.Glu451Gly) c.1334A>G (p.Glu445Gly) | |
| 11 | g.47342935T>G | CA380326503 | MYBPC3 | c.1352A>C (p.Glu451Ala) c.1334A>C (p.Glu445Ala) | |
| 11 | g.47342936C>A | CA380326518 | MYBPC3 | c.1352-1G>T (n.1352-1G>T) c.1334-1G>T (n.1334-1G>T) | |
| 11 | g.47342936C= | CA1969336425 | MYBPC3 | c.1352-1G= (n.1352-1G=) c.1334-1G= (n.1334-1G=) | |
| 11 | g.47342936C>G | CA380326524 | MYBPC3 | c.1352-1G>C (n.1352-1G>C) c.1334-1G>C (n.1334-1G>C) | |
| 11 | g.47342936C>T | CA380326528 | MYBPC3 | c.1352-1G>A (n.1352-1G>A) c.1334-1G>A (n.1334-1G>A) | ClinVar dbSNP |
| 11 | g.47342938_47343022del | CA2791323399 | MYBPC3 | c.1351+1_1352-1del c.1333+1_1334-1del | |
| 11 | g.47342937T>A | CA380326537 | MYBPC3 | c.1352-2A>T (n.1352-2A>T) c.1334-2A>T (n.1334-2A>T) | |
| 11 | g.47342937T>C | CA380326545 | MYBPC3 | c.1352-2A>G (n.1352-2A>G) c.1334-2A>G (n.1334-2A>G) | |
| 11 | g.47342937T>G | CA380326548 | MYBPC3 | c.1352-2A>C (n.1352-2A>C) c.1334-2A>C (n.1334-2A>C) | |
| 11 | g.47342938G>A | CA2613404349 | MYBPC3 | c.1352-3C>T (n.1352-3C>T) c.1334-3C>T (n.1334-3C>T) | gnomAD v4 |
| 11 | g.47342939T>C | CA2613404353 | MYBPC3 | c.1352-4A>G (n.1352-4A>G) c.1334-4A>G (n.1334-4A>G) | gnomAD v4 |
| 11 | g.47342940C= | CA1969336430 | MYBPC3 | c.1352-5G= (n.1352-5G=) c.1334-5G= (n.1334-5G=) | |
| 11 | g.47342940C>G | CA078040 | MYBPC3 | c.1352-5G>C (n.1352-5G>C) c.1334-5G>C (n.1334-5G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342940C>T | CA078038 | MYBPC3 | c.1352-5G>A (n.1352-5G>A) c.1334-5G>A (n.1334-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342941C>A | CA599374213 | MYBPC3 | c.1352-6G>T (n.1352-6G>T) c.1334-6G>T (n.1334-6G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342941C= | CA1969336435 | MYBPC3 | c.1352-6G= (n.1352-6G=) c.1334-6G= (n.1334-6G=) | |
| 11 | g.47342943G>C | CA2613404399 | MYBPC3 | c.1352-8C>G (n.1352-8C>G) c.1334-8C>G (n.1334-8C>G) | gnomAD v4 |
| 11 | g.47342944G>T | CA2573053514 | MYBPC3 | c.1352-9C>A (n.1352-9C>A) c.1334-9C>A (n.1334-9C>A) | ClinVar dbSNP |
| 11 | g.47342945C>A | CA078022 | MYBPC3 | c.1352-10G>T (n.1352-10G>T) c.1334-10G>T (n.1334-10G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342945C= | CA1969336439 | MYBPC3 | c.1352-10G= (n.1352-10G=) c.1334-10G= (n.1334-10G=) | |
| 11 | g.47342945C>T | CA599374218 | MYBPC3 | c.1352-10G>A (n.1352-10G>A) c.1334-10G>A (n.1334-10G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342947G>C | CA1969336444 | MYBPC3 | c.1352-12C>G (n.1352-12C>G) c.1334-12C>G (n.1334-12C>G) | dbSNP |
| 11 | g.47342947G= | CA1969336443 | MYBPC3 | c.1352-12C= (n.1352-12C=) c.1334-12C= (n.1334-12C=) | |
| 11 | g.47342948G>A | CA2613404413 | MYBPC3 | c.1352-13C>T (n.1352-13C>T) c.1334-13C>T (n.1334-13C>T) | gnomAD v4 |
| 11 | g.47342948G>C | CA599374220 | MYBPC3 | c.1352-13C>G (n.1352-13C>G) c.1334-13C>G (n.1334-13C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342948G= | CA1969336447 | MYBPC3 | c.1352-13C= (n.1352-13C=) c.1334-13C= (n.1334-13C=) | |
| 11 | g.47342948G>T | CA2613404415 | MYBPC3 | c.1352-13C>A (n.1352-13C>A) c.1334-13C>A (n.1334-13C>A) | gnomAD v4 |
| 11 | g.47342948_47342949insT | CA2613404418 | MYBPC3 | c.1352-14_1352-13insA (n.1352-14_1352-13insA) c.1334-14_1334-13insA (n.1334-14_1334-13insA) | gnomAD v4 |
| 11 | g.47342949G>A | CA078024 | MYBPC3 | c.1352-14C>T (n.1352-14C>T) c.1334-14C>T (n.1334-14C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342949G>C | CA2613404421 | MYBPC3 | c.1352-14C>G (n.1352-14C>G) c.1334-14C>G (n.1334-14C>G) | gnomAD v4 |
| 11 | g.47342949G= | CA1969336449 | MYBPC3 | c.1352-14C= (n.1352-14C=) c.1334-14C= (n.1334-14C=) | |
| 11 | g.47342949G>T | CA677000704 | MYBPC3 | c.1352-14C>A (n.1352-14C>A) c.1334-14C>A (n.1334-14C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342950T>G | CA1969336451 | MYBPC3 | c.1352-15A>C (n.1352-15A>C) c.1334-15A>C (n.1334-15A>C) | dbSNP |
| 11 | g.47342950T= | CA1969336453 | MYBPC3 | c.1352-15A= (n.1352-15A=) c.1334-15A= (n.1334-15A=) | |
| 11 | g.47342951G>A | CA10587122 | MYBPC3 | c.1352-16C>T (n.1352-16C>T) c.1334-16C>T (n.1334-16C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342951G= | CA1969336457 | MYBPC3 | c.1352-16C= (n.1352-16C=) c.1334-16C= (n.1334-16C=) | |
| 11 | g.47342953G>A | CA599374224 | MYBPC3 | c.1352-18C>T (n.1352-18C>T) c.1334-18C>T (n.1334-18C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342953G>C | CA2613404430 | MYBPC3 | c.1352-18C>G (n.1352-18C>G) c.1334-18C>G (n.1334-18C>G) | ClinVar gnomAD v4 |
| 11 | g.47342953G= | CA1969336460 | MYBPC3 | c.1352-18C= (n.1352-18C=) c.1334-18C= (n.1334-18C=) | |
| 11 | g.47342953G>T | CA2573147070 | MYBPC3 | c.1352-18C>A (n.1352-18C>A) c.1334-18C>A (n.1334-18C>A) | ClinVar dbSNP |
| 11 | g.47342954C= | CA1969336462 | MYBPC3 | c.1352-19G= (n.1352-19G=) c.1334-19G= (n.1334-19G=) | |
| 11 | g.47342954C>G | CA078025 | MYBPC3 | c.1352-19G>C (n.1352-19G>C) c.1334-19G>C (n.1334-19G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342955A>C | CA2613404437 | MYBPC3 | c.1352-20T>G (n.1352-20T>G) c.1334-20T>G (n.1334-20T>G) | gnomAD v4 |
| 11 | g.47342956T>G | CA078027 | MYBPC3 | c.1352-21A>C (n.1352-21A>C) c.1334-21A>C (n.1334-21A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342956T= | CA1969336465 | MYBPC3 | c.1352-21A= (n.1352-21A=) c.1334-21A= (n.1334-21A=) | |
| 11 | g.47342957G>A | CA078029 | MYBPC3 | c.1352-22C>T (n.1352-22C>T) c.1334-22C>T (n.1334-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342957G= | CA1969336469 | MYBPC3 | c.1352-22C= (n.1352-22C=) c.1334-22C= (n.1334-22C=) | |
| 11 | g.47342957G>T | CA2613404445 | MYBPC3 | c.1352-22C>A (n.1352-22C>A) c.1334-22C>A (n.1334-22C>A) | gnomAD v4 |
| 11 | g.47342959G>A | CA2613404467 | MYBPC3 | c.1352-24C>T (n.1352-24C>T) c.1334-24C>T (n.1334-24C>T) | gnomAD v4 |
| 11 | g.47342959G>T | CA2613404469 | MYBPC3 | c.1352-24C>A (n.1352-24C>A) c.1334-24C>A (n.1334-24C>A) | gnomAD v4 |
| 11 | g.47342960G>A | CA599374240 | MYBPC3 | c.1352-25C>T (n.1352-25C>T) c.1334-25C>T (n.1334-25C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342960G= | CA1969336472 | MYBPC3 | c.1352-25C= (n.1352-25C=) c.1334-25C= (n.1334-25C=) | |
| 11 | g.47342960G>T | CA1969336471 | MYBPC3 | c.1352-25C>A (n.1352-25C>A) c.1334-25C>A (n.1334-25C>A) | dbSNP gnomAD v4 |
| 11 | g.47342961G>A | CA599374241 | MYBPC3 | c.1352-26C>T (n.1352-26C>T) c.1334-26C>T (n.1334-26C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342961G>C | CA2723717275 | MYBPC3 | c.1352-26C>G (n.1352-26C>G) c.1334-26C>G (n.1334-26C>G) | dbSNP |
| 11 | g.47342961G= | CA1969336473 | MYBPC3 | c.1352-26C= (n.1352-26C=) c.1334-26C= (n.1334-26C=) | |
| 11 | g.47342961G>T | CA2613404479 | MYBPC3 | c.1352-26C>A (n.1352-26C>A) c.1334-26C>A (n.1334-26C>A) | gnomAD v4 |
| 11 | g.47342962T>C | CA2613404483 | MYBPC3 | c.1352-27A>G (n.1352-27A>G) c.1334-27A>G (n.1334-27A>G) | gnomAD v4 |
| 11 | g.47342962T>G | CA1969336477 | MYBPC3 | c.1352-27A>C (n.1352-27A>C) c.1334-27A>C (n.1334-27A>C) | dbSNP |
| 11 | g.47342962T= | CA1969336476 | MYBPC3 | c.1352-27A= (n.1352-27A=) c.1334-27A= (n.1334-27A=) | |
| 11 | g.47342962_47342963insA | CA2791323400 | MYBPC3 | c.1352-28_1352-27insT (n.1352-28_1352-27insT) c.1334-28_1334-27insT (n.1334-28_1334-27insT) | |
| 11 | g.47342964G>A | CA677000723 | MYBPC3 | c.1352-29C>T (n.1352-29C>T) c.1334-29C>T (n.1334-29C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342964G= | CA1969336480 | MYBPC3 | c.1352-29C= (n.1352-29C=) c.1334-29C= (n.1334-29C=) | |
| 11 | g.47342964G>T | CA078031 | MYBPC3 | c.1352-29C>A (n.1352-29C>A) c.1334-29C>A (n.1334-29C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342965G>C | CA2613404508 | MYBPC3 | c.1352-30C>G (n.1352-30C>G) c.1334-30C>G (n.1334-30C>G) | gnomAD v4 |
| 11 | g.47342965G>T | CA2613404509 | MYBPC3 | c.1352-30C>A (n.1352-30C>A) c.1334-30C>A (n.1334-30C>A) | gnomAD v4 |
| 11 | g.47342970_47342984del | CA2613404517 | MYBPC3 | c.1351+41_1352-31del (n.1351+41_1352-31del) c.1333+41_1334-31del (n.1333+41_1334-31del) | gnomAD v4 |
| 11 | g.47342967_47342968delinsTC | CA1969336482 | MYBPC3 | c.1352-33_1352-32delinsGA (n.1352-33_1352-32delinsGA) c.1334-33_1334-32delinsGA (n.1334-33_1334-32delinsGA) | |
| 11 | g.47342968C>A | CA599374242 | MYBPC3 | c.1352-33G>T (n.1352-33G>T) c.1334-33G>T (n.1334-33G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342968C= | CA1969336487 | MYBPC3 | c.1352-33G= (n.1352-33G=) c.1334-33G= (n.1334-33G=) | |
| 11 | g.47342968C>G | CA078034 | MYBPC3 | c.1352-33G>C (n.1352-33G>C) c.1334-33G>C (n.1334-33G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342971del | CA078032 | MYBPC3 | c.1352-33del (n.1352-33del) c.1334-33del (n.1334-33del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |