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.47342938_47343022del | CA2791323399 | MYBPC3 | c.1351+1_1352-1del c.1333+1_1334-1del | |
| 11 | g.47342985T>A | CA2613404570 | MYBPC3 | c.1351+36A>T (n.1351+36A>T) c.1333+36A>T (n.1333+36A>T) | gnomAD v4 |
| 11 | g.47342985_47342986delinsTC | CA1969336514 | MYBPC3 | c.1351+35_1351+36delinsGA (n.1351+35_1351+36delinsGA) c.1333+35_1333+36delinsGA (n.1333+35_1333+36delinsGA) | |
| 11 | g.47342989dup | CA5975376 | MYBPC3 | c.1351+35dup (n.1351+35dup) c.1333+35dup (n.1333+35dup) | dbSNP ExAC |
| 11 | g.47342989del | CA044482 | MYBPC3 | c.1351+35del (n.1351+35del) c.1333+35del (n.1333+35del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342987C>T | CA2613404577 | MYBPC3 | c.1351+34G>A (n.1351+34G>A) c.1333+34G>A (n.1333+34G>A) | gnomAD v4 |
| 11 | g.47342988C>A | CA2613404579 | MYBPC3 | c.1351+33G>T (n.1351+33G>T) c.1333+33G>T (n.1333+33G>T) | gnomAD v4 |
| 11 | g.47342988C= | CA1969336521 | MYBPC3 | c.1351+33G= (n.1351+33G=) c.1333+33G= (n.1333+33G=) | |
| 11 | g.47342988C>T | CA599374247 | MYBPC3 | c.1351+33G>A (n.1351+33G>A) c.1333+33G>A (n.1333+33G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342989C>T | CA2613404583 | MYBPC3 | c.1351+32G>A (n.1351+32G>A) c.1333+32G>A (n.1333+32G>A) | gnomAD v4 |
| 11 | g.47342990A>C | CA2613404586 | MYBPC3 | c.1351+31T>G (n.1351+31T>G) c.1333+31T>G (n.1333+31T>G) | gnomAD v4 |
| 11 | g.47342990A>G | CA2613404587 | MYBPC3 | c.1351+31T>C (n.1351+31T>C) c.1333+31T>C (n.1333+31T>C) | gnomAD v4 |
| 11 | g.47342991G>A | CA078017 | MYBPC3 | c.1351+30C>T (n.1351+30C>T) c.1333+30C>T (n.1333+30C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342991G= | CA1969336524 | MYBPC3 | c.1351+30C= (n.1351+30C=) c.1333+30C= (n.1333+30C=) | |
| 11 | g.47342992G>C | CA221696602 | MYBPC3 | c.1351+29C>G (n.1351+29C>G) c.1333+29C>G (n.1333+29C>G) | dbSNP |
| 11 | g.47342992G= | CA1969336526 | MYBPC3 | c.1351+29C= (n.1351+29C=) c.1333+29C= (n.1333+29C=) | |
| 11 | g.47342995C= | CA1969336530 | MYBPC3 | c.1351+26G= (n.1351+26G=) c.1333+26G= (n.1333+26G=) | |
| 11 | g.47342995C>T | CA078015 | MYBPC3 | c.1351+26G>A (n.1351+26G>A) c.1333+26G>A (n.1333+26G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342999C>A | CA078013 | MYBPC3 | c.1351+22G>T (n.1351+22G>T) c.1333+22G>T (n.1333+22G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342999C= | CA1969336533 | MYBPC3 | c.1351+22G= (n.1351+22G=) c.1333+22G= (n.1333+22G=) | |
| 11 | g.47342999C>T | CA2613404603 | MYBPC3 | c.1351+22G>A (n.1351+22G>A) c.1333+22G>A (n.1333+22G>A) | gnomAD v4 |
| 11 | g.47343001T>C | CA2563486403 | MYBPC3 | c.1351+20A>G (n.1351+20A>G) c.1333+20A>G (n.1333+20A>G) | gnomAD v4 |
| 11 | g.47343002C>A | CA044435 | MYBPC3 | c.1351+19G>T (n.1351+19G>T) c.1333+19G>T (n.1333+19G>T) | |
| 11 | g.47343002C= | CA1969336536 | MYBPC3 | c.1351+19G= (n.1351+19G=) c.1333+19G= (n.1333+19G=) | |
| 11 | g.47343002C>T | CA078011 | MYBPC3 | c.1351+19G>A (n.1351+19G>A) c.1333+19G>A (n.1333+19G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343003C>T | CA2574816103 | MYBPC3 | c.1351+18G>A (n.1351+18G>A) c.1333+18G>A (n.1333+18G>A) | gnomAD v4 |
| 11 | g.47343005C>A | CA2613404610 | MYBPC3 | c.1351+16G>T (n.1351+16G>T) c.1333+16G>T (n.1333+16G>T) | gnomAD v4 |
| 11 | g.47343005C>T | CA044421 | MYBPC3 | c.1351+16G>A (n.1351+16G>A) c.1333+16G>A (n.1333+16G>A) | |
| 11 | g.47343006A>T | CA2574816106 | MYBPC3 | c.1351+15T>A (n.1351+15T>A) c.1333+15T>A (n.1333+15T>A) | gnomAD v4 |
| 11 | g.47343008G>A | CA2613404617 | MYBPC3 | c.1351+13C>T (n.1351+13C>T) c.1333+13C>T (n.1333+13C>T) | gnomAD v4 |
| 11 | g.47343008G>C | CA2613404622 | MYBPC3 | c.1351+13C>G (n.1351+13C>G) c.1333+13C>G (n.1333+13C>G) | gnomAD v4 |
| 11 | g.47343009T>C | CA2574816109 | MYBPC3 | c.1351+12A>G (n.1351+12A>G) c.1333+12A>G (n.1333+12A>G) | |
| 11 | g.47343012C= | CA1969336539 | MYBPC3 | c.1351+9G= (n.1351+9G=) c.1333+9G= (n.1333+9G=) | |
| 11 | g.47343012C>G | CA599374248 | MYBPC3 | c.1351+9G>C (n.1351+9G>C) c.1333+9G>C (n.1333+9G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343012C>T | CA599374249 | MYBPC3 | c.1351+9G>A (n.1351+9G>A) c.1333+9G>A (n.1333+9G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343013A>G | CA2613404634 | MYBPC3 | c.1351+8T>C (n.1351+8T>C) c.1333+8T>C (n.1333+8T>C) | gnomAD v4 |
| 11 | g.47343016C= | CA1969336542 | MYBPC3 | c.1351+5G= (n.1351+5G=) c.1333+5G= (n.1333+5G=) | |
| 11 | g.47343016C>T | CA658797636 | MYBPC3 | c.1351+5G>A (n.1351+5G>A) c.1333+5G>A (n.1333+5G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343017C= | CA1969336549 | MYBPC3 | c.1351+4G= (n.1351+4G=) c.1333+4G= (n.1333+4G=) | |
| 11 | g.47343017C>T | CA078020 | MYBPC3 | c.1351+4G>A (n.1351+4G>A) c.1333+4G>A (n.1333+4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343018C>A | CA2580084272 | MYBPC3 | c.1351+3G>T (n.1351+3G>T) c.1333+3G>T (n.1333+3G>T) | ClinVar |
| 11 | g.47343018C>T | CA2574816110 | MYBPC3 | c.1351+3G>A (n.1351+3G>A) c.1333+3G>A (n.1333+3G>A) | gnomAD v4 |
| 11 | g.47343019A= | CA1969336552 | MYBPC3 | c.1351+2T= (n.1351+2T=) c.1333+2T= (n.1333+2T=) | |
| 11 | g.47343019A>C | CA380326611 | MYBPC3 | c.1351+2T>G (n.1351+2T>G) c.1333+2T>G (n.1333+2T>G) | ClinVar dbSNP |
| 11 | g.47343019A>G | CA010144 | MYBPC3 | c.1351+2T>C (n.1351+2T>C) c.1333+2T>C (n.1333+2T>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343019A>T | CA380326631 | MYBPC3 | c.1351+2T>A (n.1351+2T>A) c.1333+2T>A (n.1333+2T>A) | |
| 11 | g.47343020C>A | CA380326635 | MYBPC3 | c.1351+1G>T (n.1351+1G>T) c.1333+1G>T (n.1333+1G>T) | |
| 11 | g.47343020C= | CA1969336560 | MYBPC3 | c.1351+1G= (n.1351+1G=) c.1333+1G= (n.1333+1G=) | |
| 11 | g.47343020C>G | CA16605932 | MYBPC3 | c.1351+1G>C (n.1351+1G>C) c.1333+1G>C (n.1333+1G>C) | ClinVar dbSNP |
| 11 | g.47343020C>T | CA010136 | MYBPC3 | c.1351+1G>A (n.1351+1G>A) c.1333+1G>A (n.1333+1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343021C>A | CA010153 | MYBPC3 | c.1351G>T (p.Glu451Ter) c.1333G>T (p.Glu445Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343021C= | CA1969336568 | MYBPC3 | c.1351G= (p.Glu451=) c.1333G= (p.Glu445=) | |
| 11 | g.47343021C>G | CA380326651 | MYBPC3 | c.1351G>C (p.Glu451Gln) c.1333G>C (p.Glu445Gln) | ClinVar dbSNP |
| 11 | g.47343021C>T | CA380326648 | MYBPC3 | c.1351G>A (p.Glu451Lys) c.1333G>A (p.Glu445Lys) | |
| 11 | g.47343022T>A | CA380326657 | MYBPC3 | c.1350A>T (p.Lys450Asn) c.1332A>T (p.Lys444Asn) | |
| 11 | g.47343022T>C | CA474429507 | MYBPC3 | c.1350A>G (p.Lys450=) c.1332A>G (p.Lys444=) | ClinVar gnomAD v4 |
| 11 | g.47343022T>G | CA380326661 | MYBPC3 | c.1350A>C (p.Lys450Asn) c.1332A>C (p.Lys444Asn) | gnomAD v4 |
| 11 | g.47343024del | CA2580084275 | MYBPC3 | c.1350del (p.Glu451SerfsTer15) c.1332del (p.Glu445SerfsTer15) | ClinVar |
| 11 | g.47343023T>A | CA380326663 | MYBPC3 | c.1349A>T (p.Lys450Ile) c.1331A>T (p.Lys444Ile) | |
| 11 | g.47343023T>C | CA380326667 | MYBPC3 | c.1349A>G (p.Lys450Arg) c.1331A>G (p.Lys444Arg) | |
| 11 | g.47343023T>G | CA380326673 | MYBPC3 | c.1349A>C (p.Lys450Thr) c.1331A>C (p.Lys444Thr) | |
| 11 | g.47343024T>A | CA380326676 | MYBPC3 | c.1348A>T (p.Lys450Ter) c.1330A>T (p.Lys444Ter) | |
| 11 | g.47343024T>C | CA380326679 | MYBPC3 | c.1348A>G (p.Lys450Glu) c.1330A>G (p.Lys444Glu) | |
| 11 | g.47343024T>G | CA380326681 | MYBPC3 | c.1348A>C (p.Lys450Gln) c.1330A>C (p.Lys444Gln) | |
| 11 | g.47343025C>A | CA078009 | MYBPC3 | c.1347G>T (p.Val449=) c.1329G>T (p.Val443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343025C= | CA1969336572 | MYBPC3 | c.1347G= (p.Val449=) c.1329G= (p.Val443=) | |
| 11 | g.47343025C>G | CA474429508 | MYBPC3 | c.1347G>C (p.Val449=) c.1329G>C (p.Val443=) | |
| 11 | g.47343025C>T | CA474429509 | MYBPC3 | c.1347G>A (p.Val449=) c.1329G>A (p.Val443=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343026A>C | CA380326703 | MYBPC3 | c.1346T>G (p.Val449Gly) c.1328T>G (p.Val443Gly) | |
| 11 | g.47343026A>G | CA380326694 | MYBPC3 | c.1346T>C (p.Val449Ala) c.1328T>C (p.Val443Ala) | |
| 11 | g.47343026A>T | CA380326688 | MYBPC3 | c.1346T>A (p.Val449Glu) c.1328T>A (p.Val443Glu) | |
| 11 | g.47343027C>A | CA380326705 | MYBPC3 | c.1345G>T (p.Val449Leu) c.1327G>T (p.Val443Leu) | |
| 11 | g.47343027C>G | CA380326707 | MYBPC3 | c.1345G>C (p.Val449Leu) c.1327G>C (p.Val443Leu) | ClinVar gnomAD v4 |
| 11 | g.47343027C>T | CA380326708 | MYBPC3 | c.1345G>A (p.Val449Met) c.1327G>A (p.Val443Met) | |
| 11 | g.47343028A= | CA1969336573 | MYBPC3 | c.1344T= (p.Phe448=) c.1326T= (p.Phe442=) | |
| 11 | g.47343028A>C | CA380326710 | MYBPC3 | c.1344T>G (p.Phe448Leu) c.1326T>G (p.Phe442Leu) | |
| 11 | g.47343028A>G | CA221696716 | MYBPC3 | c.1344T>C (p.Phe448=) c.1326T>C (p.Phe442=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343028A>T | CA380326713 | MYBPC3 | c.1344T>A (p.Phe448Leu) c.1326T>A (p.Phe442Leu) | |
| 11 | g.47343029A= | CA1969336576 | MYBPC3 | c.1343T= (p.Phe448=) c.1325T= (p.Phe442=) | |
| 11 | g.47343029A>C | CA380326717 | MYBPC3 | c.1343T>G (p.Phe448Cys) c.1325T>G (p.Phe442Cys) | |
| 11 | g.47343029A>G | CA010132 | MYBPC3 | c.1343T>C (p.Phe448Ser) c.1325T>C (p.Phe442Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343029A>T | CA380326722 | MYBPC3 | c.1343T>A (p.Phe448Tyr) c.1325T>A (p.Phe442Tyr) | |
| 11 | g.47343030A>C | CA380326731 | MYBPC3 | c.1342T>G (p.Phe448Val) c.1324T>G (p.Phe442Val) | |
| 11 | g.47343030A>G | CA380326734 | MYBPC3 | c.1342T>C (p.Phe448Leu) c.1324T>C (p.Phe442Leu) | |
| 11 | g.47343030A>T | CA380326737 | MYBPC3 | c.1342T>A (p.Phe448Ile) c.1324T>A (p.Phe442Ile) | |
| 11 | g.47343031del | CA2695213911 | MYBPC3 | c.1341del (p.Phe448LeufsTer2) c.1323del (p.Phe442LeufsTer2) | |
| 11 | g.47343031G>A | CA474429510 | MYBPC3 | c.1341C>T (p.Leu447=) c.1323C>T (p.Leu441=) | dbSNP |
| 11 | g.47343031G>C | CA474429511 | MYBPC3 | c.1341C>G (p.Leu447=) c.1323C>G (p.Leu441=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343031G= | CA1969336579 | MYBPC3 | c.1341C= (p.Leu447=) c.1323C= (p.Leu441=) | |
| 11 | g.47343031G>T | CA474429512 | MYBPC3 | c.1341C>A (p.Leu447=) c.1323C>A (p.Leu441=) | gnomAD v4 |
| 11 | g.47343032A>C | CA380326739 | MYBPC3 | c.1340T>G (p.Leu447Arg) c.1322T>G (p.Leu441Arg) | ClinVar |
| 11 | g.47343032A>G | CA380326742 | MYBPC3 | c.1340T>C (p.Leu447Pro) c.1322T>C (p.Leu441Pro) | |
| 11 | g.47343032A>T | CA380326738 | MYBPC3 | c.1340T>A (p.Leu447His) c.1322T>A (p.Leu441His) | |
| 11 | g.47343033G>A | CA380326748 | MYBPC3 | c.1339C>T (p.Leu447Phe) c.1321C>T (p.Leu441Phe) | ClinVar dbSNP |
| 11 | g.47343033G>C | CA380326751 | MYBPC3 | c.1339C>G (p.Leu447Val) c.1321C>G (p.Leu441Val) | |
| 11 | g.47343033G= | CA1969336581 | MYBPC3 | c.1339C= (p.Leu447=) c.1321C= (p.Leu441=) | |
| 11 | g.47343033G>T | CA380326753 | MYBPC3 | c.1339C>A (p.Leu447Ile) c.1321C>A (p.Leu441Ile) | |
| 11 | g.47343034C>A | CA380326756 | MYBPC3 | c.1338G>T (p.Glu446Asp) c.1320G>T (p.Glu440Asp) | |
| 11 | g.47343034C= | CA1969336584 | MYBPC3 | c.1338G= (p.Glu446=) c.1320G= (p.Glu440=) | |
| 11 | g.47343034C>G | CA380326758 | MYBPC3 | c.1338G>C (p.Glu446Asp) c.1320G>C (p.Glu440Asp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343034C>T | CA078006 | MYBPC3 | c.1338G>A (p.Glu446=) c.1320G>A (p.Glu440=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343035T>A | CA380326762 | MYBPC3 | c.1337A>T (p.Glu446Val) c.1319A>T (p.Glu440Val) | |
| 11 | g.47343035T>C | CA380326767 | MYBPC3 | c.1337A>G (p.Glu446Gly) c.1319A>G (p.Glu440Gly) | |
| 11 | g.47343035T>G | CA380326764 | MYBPC3 | c.1337A>C (p.Glu446Ala) c.1319A>C (p.Glu440Ala) | gnomAD v4 |
| 11 | g.47343036C>A | CA380326769 | MYBPC3 | c.1336G>T (p.Glu446Ter) c.1318G>T (p.Glu440Ter) | |
| 11 | g.47343036C>G | CA380326770 | MYBPC3 | c.1336G>C (p.Glu446Gln) c.1318G>C (p.Glu440Gln) | |
| 11 | g.47343036C>T | CA380326771 | MYBPC3 | c.1336G>A (p.Glu446Lys) c.1318G>A (p.Glu440Lys) | COSMIC COSMIC |
| 11 | g.47343037C>A | CA474429513 | MYBPC3 | c.1335G>T (p.Thr445=) c.1317G>T (p.Thr439=) | |
| 11 | g.47343037C= | CA1969336588 | MYBPC3 | c.1335G= (p.Thr445=) c.1317G= (p.Thr439=) | |
| 11 | g.47343037C>G | CA474429514 | MYBPC3 | c.1335G>C (p.Thr445=) c.1317G>C (p.Thr439=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343037C>T | CA010124 | MYBPC3 | c.1335G>A (p.Thr445=) c.1317G>A (p.Thr439=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343038G>A | CA078002 | MYBPC3 | c.1334C>T (p.Thr445Met) c.1316C>T (p.Thr439Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343038G>C | CA380326787 | MYBPC3 | c.1334C>G (p.Thr445Arg) c.1316C>G (p.Thr439Arg) | |
| 11 | g.47343038G= | CA1969336595 | MYBPC3 | c.1334C= (p.Thr445=) c.1316C= (p.Thr439=) | |
| 11 | g.47343038G>T | CA380326781 | MYBPC3 | c.1334C>A (p.Thr445Lys) c.1316C>A (p.Thr439Lys) | |
| 11 | g.47343039T>A | CA380326792 | MYBPC3 | c.1333A>T (p.Thr445Ser) c.1315A>T (p.Thr439Ser) | |
| 11 | g.47343039T>C | CA380326793 | MYBPC3 | c.1333A>G (p.Thr445Ala) c.1315A>G (p.Thr439Ala) | ClinVar dbSNP |
| 11 | g.47343039T>G | CA380326794 | MYBPC3 | c.1333A>C (p.Thr445Pro) c.1315A>C (p.Thr439Pro) | |
| 11 | g.47343039T= | CA1969336597 | MYBPC3 | c.1333A= (p.Thr445=) c.1315A= (p.Thr439=) | |
| 11 | g.47343040G>A | CA474429516 | MYBPC3 | c.1332C>T (p.Ser444=) c.1314C>T (p.Ser438=) | dbSNP gnomAD v4 |
| 11 | g.47343040G>C | CA380326795 | MYBPC3 | c.1332C>G (p.Ser444Arg) c.1314C>G (p.Ser438Arg) | |
| 11 | g.47343040G>T | CA380326798 | MYBPC3 | c.1332C>A (p.Ser444Arg) c.1314C>A (p.Ser438Arg) | |
| 11 | g.47343041C>A | CA380326803 | MYBPC3 | c.1331G>T (p.Ser444Ile) c.1313G>T (p.Ser438Ile) | |
| 11 | g.47343041C>G | CA380326809 | MYBPC3 | c.1331G>C (p.Ser444Thr) c.1313G>C (p.Ser438Thr) | |
| 11 | g.47343041C>T | CA380326812 | MYBPC3 | c.1331G>A (p.Ser444Asn) c.1313G>A (p.Ser438Asn) | |
| 11 | g.47343041_47343042delinsCT | CA1969336598 | MYBPC3 | c.1330_1331delinsAG (p.Ser444=) c.1312_1313delinsAG (p.Ser438=) | |
| 11 | g.47343042del | CA010115 | MYBPC3 | c.1330del (p.Ser444AlafsTer6) c.1312del (p.Ser438AlafsTer6) | ClinVar dbSNP |
| 11 | g.47343042T>A | CA380326818 | MYBPC3 | c.1330A>T (p.Ser444Cys) c.1312A>T (p.Ser438Cys) | |
| 11 | g.47343042T>C | CA380326824 | MYBPC3 | c.1330A>G (p.Ser444Gly) c.1312A>G (p.Ser438Gly) | |
| 11 | g.47343042T>G | CA380326833 | MYBPC3 | c.1330A>C (p.Ser444Arg) c.1312A>C (p.Ser438Arg) | |
| 11 | g.47343043A>C | CA380326839 | MYBPC3 | c.1329T>G (p.Cys443Trp) c.1311T>G (p.Cys437Trp) | |
| 11 | g.47343043A>G | CA474429518 | MYBPC3 | c.1329T>C (p.Cys443=) c.1311T>C (p.Cys437=) | ClinVar |
| 11 | g.47343043A>T | CA380326848 | MYBPC3 | c.1329T>A (p.Cys443Ter) c.1311T>A (p.Cys437Ter) | ClinVar |
| 11 | g.47343043_47343053delinsACACTTCTCGC | CA1969336604 | MYBPC3 | c.1319_1329delinsGCGAGAAGTGT (p.Gly440=) c.1301_1311delinsGCGAGAAGTGT (p.Gly434=) | |
| 11 | g.47343044C>A | CA380326852 | MYBPC3 | c.1328G>T (p.Cys443Phe) c.1310G>T (p.Cys437Phe) | |
| 11 | g.47343044C>G | CA380326855 | MYBPC3 | c.1328G>C (p.Cys443Ser) c.1310G>C (p.Cys437Ser) | |
| 11 | g.47343044C>T | CA380326853 | MYBPC3 | c.1328G>A (p.Cys443Tyr) c.1310G>A (p.Cys437Tyr) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47343047_47343056del | CA915948159 | MYBPC3 | c.1319_1328del (p.Gly440ValfsTer7) c.1301_1310del (p.Gly434ValfsTer7) | ClinVar dbSNP |
| 11 | g.47343045A>C | CA380326868 | MYBPC3 | c.1327T>G (p.Cys443Gly) c.1309T>G (p.Cys437Gly) | |
| 11 | g.47343045A>G | CA380326871 | MYBPC3 | c.1327T>C (p.Cys443Arg) c.1309T>C (p.Cys437Arg) | |
| 11 | g.47343045A>T | CA380326874 | MYBPC3 | c.1327T>A (p.Cys443Ser) c.1309T>A (p.Cys437Ser) | |
| 11 | g.47343046C>A | CA380326882 | MYBPC3 | c.1326G>T (p.Lys442Asn) c.1308G>T (p.Lys436Asn) | |
| 11 | g.47343046C= | CA1969336612 | MYBPC3 | c.1326G= (p.Lys442=) c.1308G= (p.Lys436=) | |
| 11 | g.47343046C>G | CA380326886 | MYBPC3 | c.1326G>C (p.Lys442Asn) c.1308G>C (p.Lys436Asn) | |
| 11 | g.47343046C>T | CA077996 | MYBPC3 | c.1326G>A (p.Lys442=) c.1308G>A (p.Lys436=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343047T>A | CA380326897 | MYBPC3 | c.1325A>T (p.Lys442Met) c.1307A>T (p.Lys436Met) | |
| 11 | g.47343047T>C | CA077994 | MYBPC3 | c.1325A>G (p.Lys442Arg) c.1307A>G (p.Lys436Arg) | dbSNP ExAC gnomAD v2 |
| 11 | g.47343047T>G | CA380326907 | MYBPC3 | c.1325A>C (p.Lys442Thr) c.1307A>C (p.Lys436Thr) | |
| 11 | g.47343047T= | CA1969336615 | MYBPC3 | c.1325A= (p.Lys442=) c.1307A= (p.Lys436=) | |
| 11 | g.47343048T>A | CA380326916 | MYBPC3 | c.1324A>T (p.Lys442Ter) c.1306A>T (p.Lys436Ter) | |
| 11 | g.47343048T>C | CA380326923 | MYBPC3 | c.1324A>G (p.Lys442Glu) c.1306A>G (p.Lys436Glu) | |
| 11 | g.47343048T>G | CA380326926 | MYBPC3 | c.1324A>C (p.Lys442Gln) c.1306A>C (p.Lys436Gln) | |
| 11 | g.47343049C>A | CA380326930 | MYBPC3 | c.1323G>T (p.Glu441Asp) c.1305G>T (p.Glu435Asp) | |
| 11 | g.47343049C>G | CA380326935 | MYBPC3 | c.1323G>C (p.Glu441Asp) c.1305G>C (p.Glu435Asp) | |
| 11 | g.47343049C>T | CA044317 | MYBPC3 | c.1323G>A (p.Glu441=) c.1305G>A (p.Glu435=) | |
| 11 | g.47343050T>A | CA380326943 | MYBPC3 | c.1322A>T (p.Glu441Val) c.1304A>T (p.Glu435Val) | |
| 11 | g.47343050T>C | CA044304 | MYBPC3 | c.1322A>G (p.Glu441Gly) c.1304A>G (p.Glu435Gly) | |
| 11 | g.47343050T>G | CA380326954 | MYBPC3 | c.1322A>C (p.Glu441Ala) c.1304A>C (p.Glu435Ala) | |
| 11 | g.47343051C>A | CA380326960 | MYBPC3 | c.1321G>T (p.Glu441Ter) c.1303G>T (p.Glu435Ter) | |
| 11 | g.47343051C= | CA1969336621 | MYBPC3 | c.1321G= (p.Glu441=) c.1303G= (p.Glu435=) | |
| 11 | g.47343051C>G | CA380326963 | MYBPC3 | c.1321G>C (p.Glu441Gln) c.1303G>C (p.Glu435Gln) | |
| 11 | g.47343051C>T | CA010097 | MYBPC3 | c.1321G>A (p.Glu441Lys) c.1303G>A (p.Glu435Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343052G>A | CA010090 | MYBPC3 | c.1320C>T (p.Gly440=) c.1302C>T (p.Gly434=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343052G>C | CA474429522 | MYBPC3 | c.1320C>G (p.Gly440=) c.1302C>G (p.Gly434=) | |
| 11 | g.47343052G= | CA1969336627 | MYBPC3 | c.1320C= (p.Gly440=) c.1302C= (p.Gly434=) | |
| 11 | g.47343052G>T | CA044579 | MYBPC3 | c.1320C>A (p.Gly440=) c.1302C>A (p.Gly434=) | ClinVar |
| 11 | g.47343053C>A | CA380326974 | MYBPC3 | c.1319G>T (p.Gly440Val) c.1301G>T (p.Gly434Val) | |
| 11 | g.47343053C= | CA1969336632 | MYBPC3 | c.1319G= (p.Gly440=) c.1301G= (p.Gly434=) | |
| 11 | g.47343053C>G | CA380326975 | MYBPC3 | c.1319G>C (p.Gly440Ala) c.1301G>C (p.Gly434Ala) | |
| 11 | g.47343053C>T | CA077988 | MYBPC3 | c.1319G>A (p.Gly440Asp) c.1301G>A (p.Gly434Asp) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 11 | g.47343054C>A | CA380326985 | MYBPC3 | c.1318G>T (p.Gly440Cys) c.1300G>T (p.Gly434Cys) | |
| 11 | g.47343054C>G | CA380326988 | MYBPC3 | c.1318G>C (p.Gly440Arg) c.1300G>C (p.Gly434Arg) | |
| 11 | g.47343054C>T | CA044275 | MYBPC3 | c.1318G>A (p.Gly440Ser) c.1300G>A (p.Gly434Ser) | gnomAD v4 |
| 11 | g.47343055A= | CA1969336637 | MYBPC3 | c.1317T= (p.Gly439=) c.1299T= (p.Gly433=) | |
| 11 | g.47343055A>C | CA474429524 | MYBPC3 | c.1317T>G (p.Gly439=) c.1299T>G (p.Gly433=) | dbSNP |
| 11 | g.47343055A>G | CA474429525 | MYBPC3 | c.1317T>C (p.Gly439=) c.1299T>C (p.Gly433=) | |
| 11 | g.47343055A>T | CA474429523 | MYBPC3 | c.1317T>A (p.Gly439=) c.1299T>A (p.Gly433=) | |
| 11 | g.47343055_47343056delinsAC | CA1969336636 | MYBPC3 | c.1316_1317delinsGT (p.Gly439=) c.1298_1299delinsGT (p.Gly433=) | |
| 11 | g.47343056C>A | CA380326998 | MYBPC3 | c.1316G>T (p.Gly439Val) c.1298G>T (p.Gly433Val) | |
| 11 | g.47343056C= | CA1969336643 | MYBPC3 | c.1316G= (p.Gly439=) c.1298G= (p.Gly433=) | |
| 11 | g.47343056C>G | CA044596 | MYBPC3 | c.1316G>C (p.Gly439Ala) c.1298G>C (p.Gly433Ala) | |
| 11 | g.47343056C>T | CA044238 | MYBPC3 | c.1316G>A (p.Gly439Asp) c.1298G>A (p.Gly433Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343058del | CA010077 | MYBPC3 | c.1316del (p.Gly439ValfsTer11) c.1298del (p.Gly433ValfsTer11) | ClinVar dbSNP |
| 11 | g.47343057C>A | CA380327018 | MYBPC3 | c.1315G>T (p.Gly439Cys) c.1297G>T (p.Gly433Cys) | |
| 11 | g.47343057C= | CA1969336649 | MYBPC3 | c.1315G= (p.Gly439=) c.1297G= (p.Gly433=) | |
| 11 | g.47343057C>G | CA380327020 | MYBPC3 | c.1315G>C (p.Gly439Arg) c.1297G>C (p.Gly433Arg) | |
| 11 | g.47343057C>T | CA380327024 | MYBPC3 | c.1315G>A (p.Gly439Ser) c.1297G>A (p.Gly433Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47343057_47343068del | CA2613404782 | MYBPC3 | c.1304_1315del (p.Gln435_Gly439delinsArg) c.1286_1297del (p.Gln429_Gly433delinsArg) | gnomAD v4 |
| 11 | g.47343058C>A | CA474429529 | MYBPC3 | c.1314G>T (p.Val438=) c.1296G>T (p.Val432=) | gnomAD v4 |
| 11 | g.47343058C>G | CA474429530 | MYBPC3 | c.1314G>C (p.Val438=) c.1296G>C (p.Val432=) | |
| 11 | g.47343058C>T | CA474429531 | MYBPC3 | c.1314G>A (p.Val438=) c.1296G>A (p.Val432=) | |
| 11 | g.47343059A>C | CA380327026 | MYBPC3 | c.1313T>G (p.Val438Gly) c.1295T>G (p.Val432Gly) | |
| 11 | g.47343059A>G | CA380327029 | MYBPC3 | c.1313T>C (p.Val438Ala) c.1295T>C (p.Val432Ala) | |
| 11 | g.47343059A>T | CA380327034 | MYBPC3 | c.1313T>A (p.Val438Glu) c.1295T>A (p.Val432Glu) | |
| 11 | g.47343060C>A | CA380327039 | MYBPC3 | c.1312G>T (p.Val438Leu) c.1294G>T (p.Val432Leu) | |
| 11 | g.47343060C>G | CA380327041 | MYBPC3 | c.1312G>C (p.Val438Leu) c.1294G>C (p.Val432Leu) | ClinVar |
| 11 | g.47343060C>T | CA380327043 | MYBPC3 | c.1312G>A (p.Val438Met) c.1294G>A (p.Val432Met) | gnomAD v4 |
| 11 | g.47343061C>A | CA474429535 | MYBPC3 | c.1311G>T (p.Val437=) c.1293G>T (p.Val431=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343061C= | CA1969336655 | MYBPC3 | c.1311G= (p.Val437=) c.1293G= (p.Val431=) | |
| 11 | g.47343061C>G | CA16613586 | MYBPC3 | c.1311G>C (p.Val437=) c.1293G>C (p.Val431=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47343061C>T | CA474429536 | MYBPC3 | c.1311G>A (p.Val437=) c.1293G>A (p.Val431=) | |
| 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=) | |
| 11 | g.47343074G>T | CA380327207 | MYBPC3 | c.1298C>A (p.Ala433Asp) c.1280C>A (p.Ala427Asp) | |
| 11 | g.47343076_47343078del | CA937655767 | MYBPC3 | c.1296_1298del (p.Ala433del) c.1278_1280del (p.Ala427del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47343074_47343095del | CA2580084277 | MYBPC3 | c.1277_1298del (p.Cys426SerfsTer17) c.1259_1280del (p.Cys420SerfsTer17) | ClinVar |
| 11 | g.47343075C>A | CA380327221 | MYBPC3 | c.1297G>T (p.Ala433Ser) c.1279G>T (p.Ala427Ser) | |
| 11 | g.47343075C= | CA1969336705 | MYBPC3 | c.1297G= (p.Ala433=) c.1279G= (p.Ala427=) | |
| 11 | g.47343075C>G | CA380327224 | MYBPC3 | c.1297G>C (p.Ala433Pro) c.1279G>C (p.Ala427Pro) | |
| 11 | g.47343075C>T | CA380327226 | MYBPC3 | c.1297G>A (p.Ala433Thr) c.1279G>A (p.Ala427Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343076T>A | CA221696845 | MYBPC3 | c.1296A>T (p.Ala432=) c.1278A>T (p.Ala426=) | dbSNP |
| 11 | g.47343076T>C | CA474429550 | MYBPC3 | c.1296A>G (p.Ala432=) c.1278A>G (p.Ala426=) | |
| 11 | g.47343076T>G | CA474429549 | MYBPC3 | c.1296A>C (p.Ala432=) c.1278A>C (p.Ala426=) | ClinVar dbSNP |
| 11 | g.47343076T= | CA1969336711 | MYBPC3 | c.1296A= (p.Ala432=) c.1278A= (p.Ala426=) | |
| 11 | g.47343077G>A | CA380327236 | MYBPC3 | c.1295C>T (p.Ala432Val) c.1277C>T (p.Ala426Val) | |
| 11 | g.47343077G>C | CA380327239 | MYBPC3 | c.1295C>G (p.Ala432Gly) c.1277C>G (p.Ala426Gly) | |
| 11 | g.47343077G>T | CA380327247 | MYBPC3 | c.1295C>A (p.Ala432Glu) c.1277C>A (p.Ala426Glu) | |
| 11 | g.47343078C>A | CA380327255 | MYBPC3 | c.1294G>T (p.Ala432Ser) c.1276G>T (p.Ala426Ser) | dbSNP |
| 11 | g.47343078C= | CA1969336716 | MYBPC3 | c.1294G= (p.Ala432=) c.1276G= (p.Ala426=) | |
| 11 | g.47343078C>G | CA380327259 | MYBPC3 | c.1294G>C (p.Ala432Pro) c.1276G>C (p.Ala426Pro) | ClinVar |
| 11 | g.47343078C>T | CA010045 | MYBPC3 | c.1294G>A (p.Ala432Thr) c.1276G>A (p.Ala426Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47343079del | CA2695213914 | MYBPC3 | c.1293del (p.Asp431GlufsTer19) c.1275del (p.Asp425GlufsTer19) | |
| 11 | g.47343079G>A | CA077970 | MYBPC3 | c.1293C>T (p.Asp431=) c.1275C>T (p.Asp425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343079G>C | CA380327269 | MYBPC3 | c.1293C>G (p.Asp431Glu) c.1275C>G (p.Asp425Glu) | |
| 11 | g.47343079G= | CA1969336726 | MYBPC3 | c.1293C= (p.Asp431=) c.1275C= (p.Asp425=) | |
| 11 | g.47343079G>T | CA16613588 | MYBPC3 | c.1293C>A (p.Asp431Glu) c.1275C>A (p.Asp425Glu) | ClinVar dbSNP |
| 11 | g.47343079_47343080delinsTG | CA2573147071 | MYBPC3 | c.1292_1293delinsCA (p.Asp431Ala) c.1274_1275delinsCA (p.Asp425Ala) | ClinVar dbSNP |
| 11 | g.47343080T>A | CA380327279 | MYBPC3 | c.1292A>T (p.Asp431Val) c.1274A>T (p.Asp425Val) | |
| 11 | g.47343080T>C | CA380327289 | MYBPC3 | c.1292A>G (p.Asp431Gly) c.1274A>G (p.Asp425Gly) | |
| 11 | g.47343080T>G | CA380327282 | MYBPC3 | c.1292A>C (p.Asp431Ala) c.1274A>C (p.Asp425Ala) | |
| 11 | g.47343081C>A | CA380327293 | MYBPC3 | c.1291G>T (p.Asp431Tyr) c.1273G>T (p.Asp425Tyr) | dbSNP gnomAD v2 |
| 11 | g.47343081C= | CA1969336733 | MYBPC3 | c.1291G= (p.Asp431=) c.1273G= (p.Asp425=) | |
| 11 | g.47343081C>G | CA380327300 | MYBPC3 | c.1291G>C (p.Asp431His) c.1273G>C (p.Asp425His) | ClinVar |
| 11 | g.47343081C>T | CA044090 | MYBPC3 | c.1291G>A (p.Asp431Asn) c.1273G>A (p.Asp425Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47343082G>A | CA010037 | MYBPC3 | c.1290C>T (p.Asp430=) c.1272C>T (p.Asp424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47343082G>C | CA380327312 | MYBPC3 | c.1290C>G (p.Asp430Glu) c.1272C>G (p.Asp424Glu) | |
| 11 | g.47343082G= | CA1969336741 | MYBPC3 | c.1290C= (p.Asp430=) c.1272C= (p.Asp424=) | |
| 11 | g.47343082G>T | CA380327317 | MYBPC3 | c.1290C>A (p.Asp430Glu) c.1272C>A (p.Asp424Glu) | |
| 11 | g.47343083T>A | CA380327322 | MYBPC3 | c.1289A>T (p.Asp430Val) c.1271A>T (p.Asp424Val) | |
| 11 | g.47343083T>C | CA380327327 | MYBPC3 | c.1289A>G (p.Asp430Gly) c.1271A>G (p.Asp424Gly) | |
| 11 | g.47343083T>G | CA380327329 | MYBPC3 | c.1289A>C (p.Asp430Ala) c.1271A>C (p.Asp424Ala) | |
| 11 | g.47343084C>A | CA380327332 | MYBPC3 | c.1288G>T (p.Asp430Tyr) c.1270G>T (p.Asp424Tyr) | |
| 11 | g.47343084C= | CA1969336746 | MYBPC3 | c.1288G= (p.Asp430=) c.1270G= (p.Asp424=) | |
| 11 | g.47343084C>G | CA380327335 | MYBPC3 | c.1288G>C (p.Asp430His) c.1270G>C (p.Asp424His) | |
| 11 | g.47343084C>T | CA010027 | MYBPC3 | c.1288G>A (p.Asp430Asn) c.1270G>A (p.Asp424Asn) | ClinVar dbSNP |
| 11 | g.47343085C>A | CA474429384 | MYBPC3 | c.1287G>T (p.Ala429=) c.1269G>T (p.Ala423=) | |
| 11 | g.47343085C= | CA1969336751 | MYBPC3 | c.1287G= (p.Ala429=) c.1269G= (p.Ala423=) | |
| 11 | g.47343085C>G | CA474429385 | MYBPC3 | c.1287G>C (p.Ala429=) c.1269G>C (p.Ala423=) | gnomAD v4 |
| 11 | g.47343085C>T | CA077966 | MYBPC3 | c.1287G>A (p.Ala429=) c.1269G>A (p.Ala423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |