UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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.47342513_47342744del | CA2580084236 | MYBPC3 | c.1460_1624+67del c.1442_1606+67del | ClinVar |
| 11 | g.47342692_47342697delinsTGAACC | CA1969335945 | MYBPC3 | c.1505_1510delinsGGTTCA (p.Arg502=) c.1487_1492delinsGGTTCA (p.Arg496=) | |
| 11 | g.47342693G>A | CA474219915 | MYBPC3 | c.1509C>T (p.Phe503=) c.1491C>T (p.Phe497=) | |
| 11 | g.47342693G>C | CA501101 | MYBPC3 | c.1509C>G (p.Phe503Leu) c.1491C>G (p.Phe497Leu) | ClinVar dbSNP |
| 11 | g.47342693G>T | CA380325214 | MYBPC3 | c.1509C>A (p.Phe503Leu) c.1491C>A (p.Phe497Leu) | |
| 11 | g.47342694_47342698del | CA010502 | MYBPC3 | c.1505_1509del (p.Arg502GlnfsTer27) c.1487_1491del (p.Arg496GlnfsTer27) | ClinVar dbSNP |
| 11 | g.47342694A>C | CA380325215 | MYBPC3 | c.1508T>G (p.Phe503Cys) c.1490T>G (p.Phe497Cys) | |
| 11 | g.47342694A>G | CA380325216 | MYBPC3 | c.1508T>C (p.Phe503Ser) c.1490T>C (p.Phe497Ser) | |
| 11 | g.47342694A>T | CA380325217 | MYBPC3 | c.1508T>A (p.Phe503Tyr) c.1490T>A (p.Phe497Tyr) | |
| 11 | g.47342695A>C | CA380325219 | MYBPC3 | c.1507T>G (p.Phe503Val) c.1489T>G (p.Phe497Val) | |
| 11 | g.47342695A>G | CA380325220 | MYBPC3 | c.1507T>C (p.Phe503Leu) c.1489T>C (p.Phe497Leu) | |
| 11 | g.47342695A>T | CA380325218 | MYBPC3 | c.1507T>A (p.Phe503Ile) c.1489T>A (p.Phe497Ile) | ClinVar dbSNP |
| 11 | g.47342696C>A | CA474219924 | MYBPC3 | c.1506G>T (p.Arg502=) c.1488G>T (p.Arg496=) | ClinVar dbSNP |
| 11 | g.47342696C= | CA1969335948 | MYBPC3 | c.1506G= (p.Arg502=) c.1488G= (p.Arg496=) | |
| 11 | g.47342696C>G | CA474219927 | MYBPC3 | c.1506G>C (p.Arg502=) c.1488G>C (p.Arg496=) | |
| 11 | g.47342696C>T | CA474219925 | MYBPC3 | c.1506G>A (p.Arg502=) c.1488G>A (p.Arg496=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342697dup | CA2573053513 | MYBPC3 | c.1506dup (p.Phe503ValfsTer28) c.1488dup (p.Phe497ValfsTer28) | dbSNP |
| 11 | g.47342697C>A | CA010518 | MYBPC3 | c.1505G>T (p.Arg502Leu) c.1487G>T (p.Arg496Leu) | ClinVar dbSNP |
| 11 | g.47342697C= | CA1969335951 | MYBPC3 | c.1505G= (p.Arg502=) c.1487G= (p.Arg496=) | |
| 11 | g.47342697C>G | CA380325221 | MYBPC3 | c.1505G>C (p.Arg502Pro) c.1487G>C (p.Arg496Pro) | |
| 11 | g.47342697C>T | CA010508 | MYBPC3 | c.1505G>A (p.Arg502Gln) c.1487G>A (p.Arg496Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342697_47342698delinsCG | CA1969335953 | MYBPC3 | c.1504_1505delinsCG (p.Arg502=) c.1486_1487delinsCG (p.Arg496=) | |
| 11 | g.47342698G>A | CA010493 | MYBPC3 | c.1504C>T (p.Arg502Trp) c.1486C>T (p.Arg496Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342698G>C | CA380325222 | MYBPC3 | c.1504C>G (p.Arg502Gly) c.1486C>G (p.Arg496Gly) | ClinVar dbSNP |
| 11 | g.47342698G= | CA1969335957 | MYBPC3 | c.1504C= (p.Arg502=) c.1486C= (p.Arg496=) | |
| 11 | g.47342698G>T | CA474219932 | MYBPC3 | c.1504C>A (p.Arg502=) c.1486C>A (p.Arg496=) | |
| 11 | g.47342699del | CA658797634 | MYBPC3 | c.1504del (p.Arg502GlyfsTer11) c.1486del (p.Arg496GlyfsTer11) | ClinVar dbSNP |
| 11 | g.47342699G>A | CA474219934 | MYBPC3 | c.1503C>T (p.Tyr501=) c.1485C>T (p.Tyr495=) | |
| 11 | g.47342699G>C | CA078146 | MYBPC3 | c.1503C>G (p.Tyr501Ter) c.1485C>G (p.Tyr495Ter) | dbSNP ExAC |
| 11 | g.47342699G= | CA1969335961 | MYBPC3 | c.1503C= (p.Tyr501=) c.1485C= (p.Tyr495=) | |
| 11 | g.47342699G>T | CA380325223 | MYBPC3 | c.1503C>A (p.Tyr501Ter) c.1485C>A (p.Tyr495Ter) | |
| 11 | g.47342700T>A | CA380325226 | MYBPC3 | c.1502A>T (p.Tyr501Phe) c.1484A>T (p.Tyr495Phe) | |
| 11 | g.47342700T>C | CA380325224 | MYBPC3 | c.1502A>G (p.Tyr501Cys) c.1484A>G (p.Tyr495Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342700T>G | CA380325225 | MYBPC3 | c.1502A>C (p.Tyr501Ser) c.1484A>C (p.Tyr495Ser) | ClinVar dbSNP |
| 11 | g.47342700T= | CA1969335963 | MYBPC3 | c.1502A= (p.Tyr501=) c.1484A= (p.Tyr495=) | |
| 11 | g.47342701A>C | CA380325227 | MYBPC3 | c.1501T>G (p.Tyr501Asp) c.1483T>G (p.Tyr495Asp) | |
| 11 | g.47342701A>G | CA380325228 | MYBPC3 | c.1501T>C (p.Tyr501His) c.1483T>C (p.Tyr495His) | |
| 11 | g.47342701A>T | CA380325229 | MYBPC3 | c.1501T>A (p.Tyr501Asn) c.1483T>A (p.Tyr495Asn) | |
| 11 | g.47342702T>A | CA380325230 | MYBPC3 | c.1500A>T (p.Lys500Asn) c.1482A>T (p.Lys494Asn) | |
| 11 | g.47342702T>C | CA474219942 | MYBPC3 | c.1500A>G (p.Lys500=) c.1482A>G (p.Lys494=) | |
| 11 | g.47342702T>G | CA380325231 | MYBPC3 | c.1500A>C (p.Lys500Asn) c.1482A>C (p.Lys494Asn) | |
| 11 | g.47342703T>A | CA380325232 | MYBPC3 | c.1499A>T (p.Lys500Ile) c.1481A>T (p.Lys494Ile) | |
| 11 | g.47342703T>C | CA380325233 | MYBPC3 | c.1499A>G (p.Lys500Arg) c.1481A>G (p.Lys494Arg) | |
| 11 | g.47342703T>G | CA078145 | MYBPC3 | c.1499A>C (p.Lys500Thr) c.1481A>C (p.Lys494Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342703T= | CA1969335966 | MYBPC3 | c.1499A= (p.Lys500=) c.1481A= (p.Lys494=) | |
| 11 | g.47342704T>A | CA380325234 | MYBPC3 | c.1498A>T (p.Lys500Ter) c.1480A>T (p.Lys494Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342704T>C | CA380325235 | MYBPC3 | c.1498A>G (p.Lys500Glu) c.1480A>G (p.Lys494Glu) | |
| 11 | g.47342704T>G | CA380325236 | MYBPC3 | c.1498A>C (p.Lys500Gln) c.1480A>C (p.Lys494Gln) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342704T= | CA1969335967 | MYBPC3 | c.1498A= (p.Lys500=) c.1480A= (p.Lys494=) | |
| 11 | g.47342705G>A | CA474219952 | MYBPC3 | c.1497C>T (p.Phe499=) c.1479C>T (p.Phe493=) | |
| 11 | g.47342705G>C | CA380325237 | MYBPC3 | c.1497C>G (p.Phe499Leu) c.1479C>G (p.Phe493Leu) | |
| 11 | g.47342705G>T | CA380325238 | MYBPC3 | c.1497C>A (p.Phe499Leu) c.1479C>A (p.Phe493Leu) | |
| 11 | g.47342706A>C | CA380325239 | MYBPC3 | c.1496T>G (p.Phe499Cys) c.1478T>G (p.Phe493Cys) | |
| 11 | g.47342706A>G | CA380325240 | MYBPC3 | c.1496T>C (p.Phe499Ser) c.1478T>C (p.Phe493Ser) | |
| 11 | g.47342706A>T | CA380325241 | MYBPC3 | c.1496T>A (p.Phe499Tyr) c.1478T>A (p.Phe493Tyr) | |
| 11 | g.47342707A= | CA1969335969 | MYBPC3 | c.1495T= (p.Phe499=) c.1477T= (p.Phe493=) | |
| 11 | g.47342707A>C | CA380325242 | MYBPC3 | c.1495T>G (p.Phe499Val) c.1477T>G (p.Phe493Val) | |
| 11 | g.47342707A>G | CA380325243 | MYBPC3 | c.1495T>C (p.Phe499Leu) c.1477T>C (p.Phe493Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342707A>T | CA380325244 | MYBPC3 | c.1495T>A (p.Phe499Ile) c.1477T>A (p.Phe493Ile) | |
| 11 | g.47342708G>A | CA474219959 | MYBPC3 | c.1494C>T (p.Thr498=) c.1476C>T (p.Thr492=) | |
| 11 | g.47342708G>C | CA010485 | MYBPC3 | c.1494C>G (p.Thr498=) c.1476C>G (p.Thr492=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342708G= | CA1969335971 | MYBPC3 | c.1494C= (p.Thr498=) c.1476C= (p.Thr492=) | |
| 11 | g.47342708G>T | CA474219962 | MYBPC3 | c.1494C>A (p.Thr498=) c.1476C>A (p.Thr492=) | |
| 11 | g.47342709G>A | CA380325246 | MYBPC3 | c.1493C>T (p.Thr498Ile) c.1475C>T (p.Thr492Ile) | |
| 11 | g.47342709G>C | CA380325245 | MYBPC3 | c.1493C>G (p.Thr498Ser) c.1475C>G (p.Thr492Ser) | |
| 11 | g.47342709G= | CA1969335973 | MYBPC3 | c.1493C= (p.Thr498=) c.1475C= (p.Thr492=) | |
| 11 | g.47342709G>T | CA078141 | MYBPC3 | c.1493C>A (p.Thr498Asn) c.1475C>A (p.Thr492Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342710T>A | CA380325247 | MYBPC3 | c.1492A>T (p.Thr498Ser) c.1474A>T (p.Thr492Ser) | |
| 11 | g.47342710T>C | CA380325248 | MYBPC3 | c.1492A>G (p.Thr498Ala) c.1474A>G (p.Thr492Ala) | |
| 11 | g.47342710T>G | CA380325249 | MYBPC3 | c.1492A>C (p.Thr498Pro) c.1474A>C (p.Thr492Pro) | |
| 11 | g.47342710_47342713delinsTCTC | CA1969335975 | MYBPC3 | c.1489_1492delinsGAGA (p.Glu497=) c.1471_1474delinsGAGA (p.Glu491=) | |
| 11 | g.47342711C>A | CA380325250 | MYBPC3 | c.1491G>T (p.Glu497Asp) c.1473G>T (p.Glu491Asp) | |
| 11 | g.47342711C>G | CA380325251 | MYBPC3 | c.1491G>C (p.Glu497Asp) c.1473G>C (p.Glu491Asp) | |
| 11 | g.47342711C>T | CA474219970 | MYBPC3 | c.1491G>A (p.Glu497=) c.1473G>A (p.Glu491=) | |
| 11 | g.47342715_47342717del | CA599374466 | MYBPC3 | c.1489_1491del (p.Glu497del) c.1471_1473del (p.Glu491del) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342712T>A | CA380325252 | MYBPC3 | c.1490A>T (p.Glu497Val) c.1472A>T (p.Glu491Val) | |
| 11 | g.47342712T>C | CA380325253 | MYBPC3 | c.1490A>G (p.Glu497Gly) c.1472A>G (p.Glu491Gly) | |
| 11 | g.47342712T>G | CA380325254 | MYBPC3 | c.1490A>C (p.Glu497Ala) c.1472A>C (p.Glu491Ala) | |
| 11 | g.47342713C>A | CA380325255 | MYBPC3 | c.1489G>T (p.Glu497Ter) c.1471G>T (p.Glu491Ter) | |
| 11 | g.47342713C= | CA1969335977 | MYBPC3 | c.1489G= (p.Glu497=) c.1471G= (p.Glu491=) | |
| 11 | g.47342713C>G | CA380325256 | MYBPC3 | c.1489G>C (p.Glu497Gln) c.1471G>C (p.Glu491Gln) | dbSNP |
| 11 | g.47342713C>T | CA380325257 | MYBPC3 | c.1489G>A (p.Glu497Lys) c.1471G>A (p.Glu491Lys) | |
| 11 | g.47342714C>A | CA380325259 | MYBPC3 | c.1488G>T (p.Glu496Asp) c.1470G>T (p.Glu490Asp) | |
| 11 | g.47342714C= | CA1969335978 | MYBPC3 | c.1488G= (p.Glu496=) c.1470G= (p.Glu490=) | |
| 11 | g.47342714C>G | CA380325258 | MYBPC3 | c.1488G>C (p.Glu496Asp) c.1470G>C (p.Glu490Asp) | |
| 11 | g.47342714C>T | CA474219976 | MYBPC3 | c.1488G>A (p.Glu496=) c.1470G>A (p.Glu490=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342715T>A | CA380325260 | MYBPC3 | c.1487A>T (p.Glu496Val) c.1469A>T (p.Glu490Val) | |
| 11 | g.47342715T>C | CA078138 | MYBPC3 | c.1487A>G (p.Glu496Gly) c.1469A>G (p.Glu490Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342715T>G | CA380325261 | MYBPC3 | c.1487A>C (p.Glu496Ala) c.1469A>C (p.Glu490Ala) | |
| 11 | g.47342715T= | CA1969335980 | MYBPC3 | c.1487A= (p.Glu496=) c.1469A= (p.Glu490=) | |
| 11 | g.47342716C>A | CA380325262 | MYBPC3 | c.1486G>T (p.Glu496Ter) c.1468G>T (p.Glu490Ter) | |
| 11 | g.47342716C= | CA1969335982 | MYBPC3 | c.1486G= (p.Glu496=) c.1468G= (p.Glu490=) | |
| 11 | g.47342716C>G | CA16042836 | MYBPC3 | c.1486G>C (p.Glu496Gln) c.1468G>C (p.Glu490Gln) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342716C>T | CA380325263 | MYBPC3 | c.1486G>A (p.Glu496Lys) c.1468G>A (p.Glu490Lys) | dbSNP |
| 11 | g.47342717C>A | CA474219982 | MYBPC3 | c.1485G>T (p.Arg495=) c.1467G>T (p.Arg489=) | |
| 11 | g.47342717C>G | CA474219986 | MYBPC3 | c.1485G>C (p.Arg495=) c.1467G>C (p.Arg489=) | |
| 11 | g.47342717C>T | CA474219984 | MYBPC3 | c.1485G>A (p.Arg495=) c.1467G>A (p.Arg489=) | gnomAD v4 |
| 11 | g.47342718C>A | CA380325264 | MYBPC3 | c.1484G>T (p.Arg495Leu) c.1466G>T (p.Arg489Leu) | ClinVar dbSNP |
| 11 | g.47342718C= | CA1969335989 | MYBPC3 | c.1484G= (p.Arg495=) c.1466G= (p.Arg489=) | |
| 11 | g.47342718C>G | CA380325265 | MYBPC3 | c.1484G>C (p.Arg495Pro) c.1466G>C (p.Arg489Pro) | |
| 11 | g.47342718C>T | CA010464 | MYBPC3 | c.1484G>A (p.Arg495Gln) c.1466G>A (p.Arg489Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342718_47342719delinsCG | CA1969335985 | MYBPC3 | c.1483_1484delinsCG (p.Arg495=) c.1465_1466delinsCG (p.Arg489=) | |
| 11 | g.47342719G>A | CA010455 | MYBPC3 | c.1483C>T (p.Arg495Trp) c.1465C>T (p.Arg489Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342719G>C | CA010449 | MYBPC3 | c.1483C>G (p.Arg495Gly) c.1465C>G (p.Arg489Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342719G= | CA1969335995 | MYBPC3 | c.1483C= (p.Arg495=) c.1465C= (p.Arg489=) | |
| 11 | g.47342719G>T | CA078136 | MYBPC3 | c.1483C>A (p.Arg495=) c.1465C>A (p.Arg489=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342721del | CA658797635 | MYBPC3 | c.1483del (p.Arg495GlyfsTer18) c.1465del (p.Arg489GlyfsTer18) | ClinVar dbSNP |
| 11 | g.47342720G>A | CA078133 | MYBPC3 | c.1482C>T (p.Thr494=) c.1464C>T (p.Thr488=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.47342720G>C | CA474219995 | MYBPC3 | c.1482C>G (p.Thr494=) c.1464C>G (p.Thr488=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342720G= | CA1969336004 | MYBPC3 | c.1482C= (p.Thr494=) c.1464C= (p.Thr488=) | |
| 11 | g.47342720G>T | CA474219999 | MYBPC3 | c.1482C>A (p.Thr494=) c.1464C>A (p.Thr488=) | |
| 11 | g.47342721G>A | CA380325267 | MYBPC3 | c.1481C>T (p.Thr494Ile) c.1463C>T (p.Thr488Ile) | |
| 11 | g.47342721G>C | CA221695980 | MYBPC3 | c.1481C>G (p.Thr494Ser) c.1463C>G (p.Thr488Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342721G= | CA1969336009 | MYBPC3 | c.1481C= (p.Thr494=) c.1463C= (p.Thr488=) | |
| 11 | g.47342721G>T | CA380325266 | MYBPC3 | c.1481C>A (p.Thr494Asn) c.1463C>A (p.Thr488Asn) | |
| 11 | g.47342722T>A | CA380325268 | MYBPC3 | c.1480A>T (p.Thr494Ser) c.1462A>T (p.Thr488Ser) | |
| 11 | g.47342722T>C | CA380325270 | MYBPC3 | c.1480A>G (p.Thr494Ala) c.1462A>G (p.Thr488Ala) | |
| 11 | g.47342722T>G | CA380325269 | MYBPC3 | c.1480A>C (p.Thr494Pro) c.1462A>C (p.Thr488Pro) | |
| 11 | g.47342723C>A | CA474220008 | MYBPC3 | c.1479G>T (p.Leu493=) c.1461G>T (p.Leu487=) | |
| 11 | g.47342723C= | CA1969336011 | MYBPC3 | c.1479G= (p.Leu493=) c.1461G= (p.Leu487=) | |
| 11 | g.47342723C>G | CA474220010 | MYBPC3 | c.1479G>C (p.Leu493=) c.1461G>C (p.Leu487=) | |
| 11 | g.47342723C>T | CA474220011 | MYBPC3 | c.1479G>A (p.Leu493=) c.1461G>A (p.Leu487=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342724A>C | CA380325271 | MYBPC3 | c.1478T>G (p.Leu493Arg) c.1460T>G (p.Leu487Arg) | |
| 11 | g.47342724A>G | CA380325273 | MYBPC3 | c.1478T>C (p.Leu493Pro) c.1460T>C (p.Leu487Pro) | |
| 11 | g.47342724A>T | CA380325272 | MYBPC3 | c.1478T>A (p.Leu493Gln) c.1460T>A (p.Leu487Gln) | |
| 11 | g.47342725G>A | CA474220016 | MYBPC3 | c.1477C>T (p.Leu493=) c.1459C>T (p.Leu487=) | |
| 11 | g.47342725G>C | CA380325274 | MYBPC3 | c.1477C>G (p.Leu493Val) c.1459C>G (p.Leu487Val) | gnomAD v4 |
| 11 | g.47342725G>T | CA380325275 | MYBPC3 | c.1477C>A (p.Leu493Met) c.1459C>A (p.Leu487Met) | |
| 11 | g.47342726C>A | CA380325276 | MYBPC3 | c.1476G>T (p.Glu492Asp) c.1458G>T (p.Glu486Asp) | |
| 11 | g.47342726C>G | CA380325277 | MYBPC3 | c.1476G>C (p.Glu492Asp) c.1458G>C (p.Glu486Asp) | gnomAD v4 |
| 11 | g.47342726C>T | CA474220020 | MYBPC3 | c.1476G>A (p.Glu492=) c.1458G>A (p.Glu486=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342727T>A | CA380325278 | MYBPC3 | c.1475A>T (p.Glu492Val) c.1457A>T (p.Glu486Val) | |
| 11 | g.47342727T>C | CA380325279 | MYBPC3 | c.1475A>G (p.Glu492Gly) c.1457A>G (p.Glu486Gly) | |
| 11 | g.47342727T>G | CA380325280 | MYBPC3 | c.1475A>C (p.Glu492Ala) c.1457A>C (p.Glu486Ala) | |
| 11 | g.47342728C>A | CA380325281 | MYBPC3 | c.1474G>T (p.Glu492Ter) c.1456G>T (p.Glu486Ter) | |
| 11 | g.47342728C>G | CA380325282 | MYBPC3 | c.1474G>C (p.Glu492Gln) c.1456G>C (p.Glu486Gln) | ClinVar |
| 11 | g.47342728C>T | CA380325283 | MYBPC3 | c.1474G>A (p.Glu492Lys) c.1456G>A (p.Glu486Lys) | gnomAD v4 |
| 11 | g.47342729del | CA2695213900 | MYBPC3 | c.1474del (p.Glu492SerfsTer2) c.1456del (p.Glu486SerfsTer2) | |
| 11 | g.47342729C>A | CA474220029 | MYBPC3 | c.1473G>T (p.Val491=) c.1455G>T (p.Val485=) | dbSNP |
| 11 | g.47342729C= | CA1969336013 | MYBPC3 | c.1473G= (p.Val491=) c.1455G= (p.Val485=) | |
| 11 | g.47342729C>G | CA474220030 | MYBPC3 | c.1473G>C (p.Val491=) c.1455G>C (p.Val485=) | |
| 11 | g.47342729C>T | CA474220031 | MYBPC3 | c.1473G>A (p.Val491=) c.1455G>A (p.Val485=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342730A= | CA1969336015 | MYBPC3 | c.1472T= (p.Val491=) c.1454T= (p.Val485=) | |
| 11 | g.47342730A>C | CA078131 | MYBPC3 | c.1472T>G (p.Val491Gly) c.1454T>G (p.Val485Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342730A>G | CA380325284 | MYBPC3 | c.1472T>C (p.Val491Ala) c.1454T>C (p.Val485Ala) | ClinVar dbSNP |
| 11 | g.47342730A>T | CA380325285 | MYBPC3 | c.1472T>A (p.Val491Glu) c.1454T>A (p.Val485Glu) | |
| 11 | g.47342731C>A | CA380325286 | MYBPC3 | c.1471G>T (p.Val491Leu) c.1453G>T (p.Val485Leu) | |
| 11 | g.47342731C= | CA1969336020 | MYBPC3 | c.1471G= (p.Val491=) c.1453G= (p.Val485=) | |
| 11 | g.47342731C>G | CA380325287 | MYBPC3 | c.1471G>C (p.Val491Leu) c.1453G>C (p.Val485Leu) | |
| 11 | g.47342731C>T | CA010441 | MYBPC3 | c.1471G>A (p.Val491Met) c.1453G>A (p.Val485Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342734dup | CA2695213901 | MYBPC3 | c.1471dup (p.Val491GlyfsTer?) c.1453dup (p.Val485GlyfsTer?) | |
| 11 | g.47342734del | CA2573051203 | MYBPC3 | c.1471del (p.Val491TrpfsTer3) c.1453del (p.Val485TrpfsTer3) | |
| 11 | g.47342732C>A | CA474220038 | MYBPC3 | c.1470G>T (p.Gly490=) c.1452G>T (p.Gly484=) | |
| 11 | g.47342732C>G | CA474220040 | MYBPC3 | c.1470G>C (p.Gly490=) c.1452G>C (p.Gly484=) | |
| 11 | g.47342732C>T | CA474220043 | MYBPC3 | c.1470G>A (p.Gly490=) c.1452G>A (p.Gly484=) | ClinVar gnomAD v4 |
| 11 | g.47342733C>A | CA010432 | MYBPC3 | c.1469G>T (p.Gly490Val) c.1451G>T (p.Gly484Val) | ClinVar dbSNP |
| 11 | g.47342733C= | CA1969336029 | MYBPC3 | c.1469G= (p.Gly490=) c.1451G= (p.Gly484=) | |
| 11 | g.47342733C>G | CA380325288 | MYBPC3 | c.1469G>C (p.Gly490Ala) c.1451G>C (p.Gly484Ala) | |
| 11 | g.47342733C>T | CA078128 | MYBPC3 | c.1469G>A (p.Gly490Glu) c.1451G>A (p.Gly484Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342734C>A | CA380325289 | MYBPC3 | c.1468G>T (p.Gly490Trp) c.1450G>T (p.Gly484Trp) | gnomAD v4 COSMIC COSMIC |
| 11 | g.47342734C= | CA1969336043 | MYBPC3 | c.1468G= (p.Gly490=) c.1450G= (p.Gly484=) | |
| 11 | g.47342734C>G | CA380325290 | MYBPC3 | c.1468G>C (p.Gly490Arg) c.1450G>C (p.Gly484Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342734C>T | CA010424 | MYBPC3 | c.1468G>A (p.Gly490Arg) c.1450G>A (p.Gly484Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342735_47342737dup | CA1139661931 | MYBPC3 | c.1466_1468dup (p.Asp489_Gly490insAsp) c.1448_1450dup (p.Asp483_Gly484insAsp) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342735G>A | CA010416 | MYBPC3 | c.1467C>T (p.Asp489=) c.1449C>T (p.Asp483=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342735G>C | CA010409 | MYBPC3 | c.1467C>G (p.Asp489Glu) c.1449C>G (p.Asp483Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342735G= | CA1969336048 | MYBPC3 | c.1467C= (p.Asp489=) c.1449C= (p.Asp483=) | |
| 11 | g.47342735G>T | CA380325291 | MYBPC3 | c.1467C>A (p.Asp489Glu) c.1449C>A (p.Asp483Glu) | |
| 11 | g.47342736T>A | CA380325294 | MYBPC3 | c.1466A>T (p.Asp489Val) c.1448A>T (p.Asp483Val) | ClinVar dbSNP |
| 11 | g.47342736T>C | CA380325293 | MYBPC3 | c.1466A>G (p.Asp489Gly) c.1448A>G (p.Asp483Gly) | |
| 11 | g.47342736T>G | CA380325292 | MYBPC3 | c.1466A>C (p.Asp489Ala) c.1448A>C (p.Asp483Ala) | |
| 11 | g.47342736T= | CA1969336054 | MYBPC3 | c.1466A= (p.Asp489=) c.1448A= (p.Asp483=) | |
| 11 | g.47342737C>A | CA221696003 | MYBPC3 | c.1465G>T (p.Asp489Tyr) c.1447G>T (p.Asp483Tyr) | dbSNP gnomAD v4 |
| 11 | g.47342737C= | CA1969336057 | MYBPC3 | c.1465G= (p.Asp489=) c.1447G= (p.Asp483=) | |
| 11 | g.47342737C>G | CA380325295 | MYBPC3 | c.1465G>C (p.Asp489His) c.1447G>C (p.Asp483His) | |
| 11 | g.47342737C>T | CA045316 | MYBPC3 | c.1465G>A (p.Asp489Asn) c.1447G>A (p.Asp483Asn) | |
| 11 | g.47342738C>A | CA380325296 | MYBPC3 | c.1464G>T (p.Lys488Asn) c.1446G>T (p.Lys482Asn) | |
| 11 | g.47342738C>G | CA380325297 | MYBPC3 | c.1464G>C (p.Lys488Asn) c.1446G>C (p.Lys482Asn) | |
| 11 | g.47342738C>T | CA474220056 | MYBPC3 | c.1464G>A (p.Lys488=) c.1446G>A (p.Lys482=) | |
| 11 | g.47342739T>A | CA380325298 | MYBPC3 | c.1463A>T (p.Lys488Met) c.1445A>T (p.Lys482Met) | |
| 11 | g.47342739T>C | CA380325299 | MYBPC3 | c.1463A>G (p.Lys488Arg) c.1445A>G (p.Lys482Arg) | |
| 11 | g.47342739T>G | CA380325300 | MYBPC3 | c.1463A>C (p.Lys488Thr) c.1445A>C (p.Lys482Thr) | |
| 11 | g.47342740T>A | CA380325301 | MYBPC3 | c.1462A>T (p.Lys488Ter) c.1444A>T (p.Lys482Ter) | |
| 11 | g.47342740T>C | CA380325302 | MYBPC3 | c.1462A>G (p.Lys488Glu) c.1444A>G (p.Lys482Glu) | |
| 11 | g.47342740T>G | CA380325303 | MYBPC3 | c.1462A>C (p.Lys488Gln) c.1444A>C (p.Lys482Gln) | |
| 11 | g.47342741C>A | CA474220065 | MYBPC3 | c.1461G>T (p.Leu487=) c.1443G>T (p.Leu481=) | |
| 11 | g.47342741C= | CA1969336060 | MYBPC3 | c.1461G= (p.Leu487=) c.1443G= (p.Leu481=) | |
| 11 | g.47342741C>G | CA474220067 | MYBPC3 | c.1461G>C (p.Leu487=) c.1443G>C (p.Leu481=) | |
| 11 | g.47342741C>T | CA474220069 | MYBPC3 | c.1461G>A (p.Leu487=) c.1443G>A (p.Leu481=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342742A>C | CA380325306 | MYBPC3 | c.1460T>G (p.Leu487Arg) c.1442T>G (p.Leu481Arg) | |
| 11 | g.47342742A>G | CA380325305 | MYBPC3 | c.1460T>C (p.Leu487Pro) c.1442T>C (p.Leu481Pro) | |
| 11 | g.47342742A>T | CA380325304 | MYBPC3 | c.1460T>A (p.Leu487Gln) c.1442T>A (p.Leu481Gln) | |
| 11 | g.47342743G>A | CA474220076 | MYBPC3 | c.1459C>T (p.Leu487=) c.1441C>T (p.Leu481=) | |
| 11 | g.47342743G>C | CA380325307 | MYBPC3 | c.1459C>G (p.Leu487Val) c.1441C>G (p.Leu481Val) | |
| 11 | g.47342743G= | CA1969336061 | MYBPC3 | c.1459C= (p.Leu487=) c.1441C= (p.Leu481=) | |
| 11 | g.47342743G>T | CA078122 | MYBPC3 | c.1459C>A (p.Leu487Met) c.1441C>A (p.Leu481Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342744C>A | CA380325308 | MYBPC3 | c.1458G>T (p.Trp486Cys) c.1440G>T (p.Trp480Cys) | ClinVar dbSNP |
| 11 | g.47342744C= | CA1969336063 | MYBPC3 | c.1458G= (p.Trp486=) c.1440G= (p.Trp480=) | |
| 11 | g.47342744C>G | CA380325309 | MYBPC3 | c.1458G>C (p.Trp486Cys) c.1440G>C (p.Trp480Cys) | |
| 11 | g.47342744C>T | CA16042747 | MYBPC3 | c.1458G>A (p.Trp486Ter) c.1440G>A (p.Trp480Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342746_47342830del | CA2791323395 | MYBPC3 | c.1457+2_1458del c.1439+2_1440del | |
| 11 | g.47342745C>A | CA380325310 | MYBPC3 | c.1458-1G>T (n.1458-1G>T) c.1440-1G>T (n.1440-1G>T) | ClinVar dbSNP |
| 11 | g.47342745C= | CA1969336069 | MYBPC3 | c.1458-1G= (n.1458-1G=) c.1440-1G= (n.1440-1G=) | |
| 11 | g.47342745C>G | CA380325311 | MYBPC3 | c.1458-1G>C (n.1458-1G>C) c.1440-1G>C (n.1440-1G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342745C>T | CA010375 | MYBPC3 | c.1458-1G>A (n.1458-1G>A) c.1440-1G>A (n.1440-1G>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47342746T>A | CA221696018 | MYBPC3 | c.1458-2A>T (n.1458-2A>T) c.1440-2A>T (n.1440-2A>T) | dbSNP |
| 11 | g.47342746T>C | CA380325312 | MYBPC3 | c.1458-2A>G (n.1458-2A>G) c.1440-2A>G (n.1440-2A>G) | |
| 11 | g.47342746T>G | CA380325313 | MYBPC3 | c.1458-2A>C (n.1458-2A>C) c.1440-2A>C (n.1440-2A>C) | |
| 11 | g.47342746T= | CA1969336073 | MYBPC3 | c.1458-2A= (n.1458-2A=) c.1440-2A= (n.1440-2A=) | |
| 11 | g.47342747A= | CA1969336075 | MYBPC3 | c.1458-3T= (n.1458-3T=) c.1440-3T= (n.1440-3T=) | |
| 11 | g.47342747A>C | CA2697548579 | MYBPC3 | c.1458-3T>G (n.1458-3T>G) c.1440-3T>G (n.1440-3T>G) | ClinVar |
| 11 | g.47342747A>T | CA221696025 | MYBPC3 | c.1458-3T>A (n.1458-3T>A) c.1440-3T>A (n.1440-3T>A) | dbSNP |
| 11 | g.47342748G>A | CA078118 | MYBPC3 | c.1458-4C>T (n.1458-4C>T) c.1440-4C>T (n.1440-4C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342748G= | CA1969336079 | MYBPC3 | c.1458-4C= (n.1458-4C=) c.1440-4C= (n.1440-4C=) | |
| 11 | g.47342749C>A | CA2613403505 | MYBPC3 | c.1458-5G>T (n.1458-5G>T) c.1440-5G>T (n.1440-5G>T) | gnomAD v4 |
| 11 | g.47342749C= | CA1969336081 | MYBPC3 | c.1458-5G= (n.1458-5G=) c.1440-5G= (n.1440-5G=) | |
| 11 | g.47342749C>T | CA078120 | MYBPC3 | c.1458-5G>A (n.1458-5G>A) c.1440-5G>A (n.1440-5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342750C>A | CA5975375 | MYBPC3 | c.1458-6G>T (n.1458-6G>T) c.1440-6G>T (n.1440-6G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342750C= | CA1969336085 | MYBPC3 | c.1458-6G= (n.1458-6G=) c.1440-6G= (n.1440-6G=) | |
| 11 | g.47342750C>G | CA2613403537 | MYBPC3 | c.1458-6G>C (n.1458-6G>C) c.1440-6G>C (n.1440-6G>C) | gnomAD v4 |
| 11 | g.47342750C>T | CA010391 | MYBPC3 | c.1458-6G>A (n.1458-6G>A) c.1440-6G>A (n.1440-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342750_47342754delinsCGGGT | CA1969336087 | MYBPC3 | c.1458-10_1458-6delinsACCCG (n.1458-10_1458-6delinsACCCG) c.1440-10_1440-6delinsACCCG (n.1440-10_1440-6delinsACCCG) | |
| 11 | g.47342751G>A | CA010400 | MYBPC3 | c.1458-7C>T (n.1458-7C>T) c.1440-7C>T (n.1440-7C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342751G>C | CA2613403551 | MYBPC3 | c.1458-7C>G (n.1458-7C>G) c.1440-7C>G (n.1440-7C>G) | gnomAD v4 |
| 11 | g.47342751G= | CA1969336092 | MYBPC3 | c.1458-7C= (n.1458-7C=) c.1440-7C= (n.1440-7C=) | |
| 11 | g.47342751G>T | CA2580084261 | MYBPC3 | c.1458-7C>A (n.1458-7C>A) c.1440-7C>A (n.1440-7C>A) | ClinVar |
| 11 | g.47342761_47342764dup | CA677000309 | MYBPC3 | c.1458-10_1458-7dup (n.1458-10_1458-7dup) c.1440-10_1440-7dup (n.1440-10_1440-7dup) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342761_47342764del | CA5975374 | MYBPC3 | c.1458-10_1458-7del (n.1458-10_1458-7del) c.1440-10_1440-7del (n.1440-10_1440-7del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342752G>A | CA2697548580 | MYBPC3 | c.1458-8C>T (n.1458-8C>T) c.1440-8C>T (n.1440-8C>T) | ClinVar |
| 11 | g.47342753G>A | CA10639339 | MYBPC3 | c.1458-9C>T (n.1458-9C>T) c.1440-9C>T (n.1440-9C>T) | ClinVar dbSNP |
| 11 | g.47342753G= | CA1969336095 | MYBPC3 | c.1458-9C= (n.1458-9C=) c.1440-9C= (n.1440-9C=) | |
| 11 | g.47342754T>C | CA2697548581 | MYBPC3 | c.1458-10A>G (n.1458-10A>G) c.1440-10A>G (n.1440-10A>G) | ClinVar |
| 11 | g.47342755G>A | CA1969336099 | MYBPC3 | c.1458-11C>T (n.1458-11C>T) c.1440-11C>T (n.1440-11C>T) | dbSNP |
| 11 | g.47342755G= | CA1969336097 | MYBPC3 | c.1458-11C= (n.1458-11C=) c.1440-11C= (n.1440-11C=) | |
| 11 | g.47342756G>T | CA2791323396 | MYBPC3 | c.1458-12C>A (n.1458-12C>A) c.1440-12C>A (n.1440-12C>A) | |
| 11 | g.47342757G>A | CA078109 | MYBPC3 | c.1458-13C>T (n.1458-13C>T) c.1440-13C>T (n.1440-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342757G= | CA1969336100 | MYBPC3 | c.1458-13C= (n.1458-13C=) c.1440-13C= (n.1440-13C=) | |
| 11 | g.47342760G>A | CA677000322 | MYBPC3 | c.1458-16C>T (n.1458-16C>T) c.1440-16C>T (n.1440-16C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342760G= | CA1969336102 | MYBPC3 | c.1458-16C= (n.1458-16C=) c.1440-16C= (n.1440-16C=) | |
| 11 | g.47342761G>A | CA010366 | MYBPC3 | c.1458-17C>T (n.1458-17C>T) c.1440-17C>T (n.1440-17C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342761G>C | CA1969336105 | MYBPC3 | c.1458-17C>G (n.1458-17C>G) c.1440-17C>G (n.1440-17C>G) | dbSNP |
| 11 | g.47342761G= | CA1969336104 | MYBPC3 | c.1458-17C= (n.1458-17C=) c.1440-17C= (n.1440-17C=) | |
| 11 | g.47342762T>C | CA1969336108 | MYBPC3 | c.1458-18A>G (n.1458-18A>G) c.1440-18A>G (n.1440-18A>G) | ClinVar dbSNP |
| 11 | g.47342762T= | CA1969336107 | MYBPC3 | c.1458-18A= (n.1458-18A=) c.1440-18A= (n.1440-18A=) | |
| 11 | g.47342764G>A | CA677000330 | MYBPC3 | c.1458-20C>T (n.1458-20C>T) c.1440-20C>T (n.1440-20C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342764G= | CA1969336109 | MYBPC3 | c.1458-20C= (n.1458-20C=) c.1440-20C= (n.1440-20C=) | |
| 11 | g.47342764G>T | CA2613403565 | MYBPC3 | c.1458-20C>A (n.1458-20C>A) c.1440-20C>A (n.1440-20C>A) | gnomAD v4 |
| 11 | g.47342765C>A | CA1969336111 | MYBPC3 | c.1458-21G>T (n.1458-21G>T) c.1440-21G>T (n.1440-21G>T) | dbSNP gnomAD v4 |
| 11 | g.47342765C= | CA1969336110 | MYBPC3 | c.1458-21G= (n.1458-21G=) c.1440-21G= (n.1440-21G=) | |
| 11 | g.47342768G>A | CA2613403571 | MYBPC3 | c.1458-24C>T (n.1458-24C>T) c.1440-24C>T (n.1440-24C>T) | gnomAD v4 |
| 11 | g.47342769T>C | CA2791323397 | MYBPC3 | c.1458-25A>G (n.1458-25A>G) c.1440-25A>G (n.1440-25A>G) | |
| 11 | g.47342770G>A | CA078112 | MYBPC3 | c.1458-26C>T (n.1458-26C>T) c.1440-26C>T (n.1440-26C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342770G>C | CA010380 | MYBPC3 | c.1458-26C>G (n.1458-26C>G) c.1440-26C>G (n.1440-26C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342770G= | CA1969336112 | MYBPC3 | c.1458-26C= (n.1458-26C=) c.1440-26C= (n.1440-26C=) | |
| 11 | g.47342770G>T | CA2580599951 | MYBPC3 | c.1458-26C>A (n.1458-26C>A) c.1440-26C>A (n.1440-26C>A) | |
| 11 | g.47342771C>G | CA2791323398 | MYBPC3 | c.1458-27G>C (n.1458-27G>C) c.1440-27G>C (n.1440-27G>C) | |
| 11 | g.47342773G>A | CA1969336115 | MYBPC3 | c.1458-29C>T (n.1458-29C>T) c.1440-29C>T (n.1440-29C>T) | dbSNP |
| 11 | g.47342773G= | CA1969336114 | MYBPC3 | c.1458-29C= (n.1458-29C=) c.1440-29C= (n.1440-29C=) | |
| 11 | g.47342774T>A | CA221696094 | MYBPC3 | c.1458-30A>T (n.1458-30A>T) c.1440-30A>T (n.1440-30A>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342774T= | CA1969336116 | MYBPC3 | c.1458-30A= (n.1458-30A=) c.1440-30A= (n.1440-30A=) | |
| 11 | g.47342775G>A | CA937671613 | MYBPC3 | c.1458-31C>T (n.1458-31C>T) c.1440-31C>T (n.1440-31C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342775G= | CA1969336117 | MYBPC3 | c.1458-31C= (n.1458-31C=) c.1440-31C= (n.1440-31C=) | |
| 11 | g.47342777C>T | CA2574816076 | MYBPC3 | c.1458-33G>A (n.1458-33G>A) c.1440-33G>A (n.1440-33G>A) | gnomAD v4 |
| 11 | g.47342778C= | CA1969336118 | MYBPC3 | c.1458-34G= (n.1458-34G=) c.1440-34G= (n.1440-34G=) | |
| 11 | g.47342778C>T | CA599374467 | MYBPC3 | c.1458-34G>A (n.1458-34G>A) c.1440-34G>A (n.1440-34G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342780C= | CA1969336120 | MYBPC3 | c.1458-36G= (n.1458-36G=) c.1440-36G= (n.1440-36G=) | |
| 11 | g.47342780C>T | CA078113 | MYBPC3 | c.1458-36G>A (n.1458-36G>A) c.1440-36G>A (n.1440-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342781T>C | CA2613403597 | MYBPC3 | c.1458-37A>G (n.1458-37A>G) c.1440-37A>G (n.1440-37A>G) | gnomAD v4 |
| 11 | g.47342783C= | CA1969336121 | MYBPC3 | c.1458-39G= (n.1458-39G=) c.1440-39G= (n.1440-39G=) | |
| 11 | g.47342783C>T | CA078115 | MYBPC3 | c.1458-39G>A (n.1458-39G>A) c.1440-39G>A (n.1440-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.47342785G>A | CA2613403601 | MYBPC3 | c.1458-41C>T (n.1458-41C>T) c.1440-41C>T (n.1440-41C>T) | gnomAD v4 |
| 11 | g.47342785G>C | CA078117 | MYBPC3 | c.1458-41C>G (n.1458-41C>G) c.1440-41C>G (n.1440-41C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342785G= | CA1969336122 | MYBPC3 | c.1458-41C= (n.1458-41C=) c.1440-41C= (n.1440-41C=) | |
| 11 | g.47342786_47342792delinsGGCAGAT | CA1969336123 | MYBPC3 | c.1457+38_1458-42delinsATCTGCC (n.1457+38_1458-42delinsATCTGCC) c.1439+38_1440-42delinsATCTGCC (n.1439+38_1440-42delinsATCTGCC) | |
| 11 | g.47342787G>A | CA937671624 | MYBPC3 | c.1458-43C>T (n.1458-43C>T) c.1440-43C>T (n.1440-43C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342787G= | CA1969336124 | MYBPC3 | c.1458-43C= (n.1458-43C=) c.1440-43C= (n.1440-43C=) | |
| 11 | g.47342789_47342794del | CA937671623 | MYBPC3 | c.1457+38_1458-43del (n.1457+38_1458-43del) c.1439+38_1440-43del (n.1439+38_1440-43del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.47342788C>A | CA1969336126 | MYBPC3 | c.1457+42G>T (n.1457+42G>T) c.1439+42G>T (n.1439+42G>T) | dbSNP gnomAD v4 |
| 11 | g.47342788C= | CA1969336125 | MYBPC3 | c.1457+42G= (n.1457+42G=) c.1439+42G= (n.1439+42G=) | |
| 11 | g.47342788C>T | CA599374468 | MYBPC3 | c.1457+42G>A (n.1457+42G>A) c.1439+42G>A (n.1439+42G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.47342791_47342816delinsATGCCCCCAACACCCATGCCCCGTGC | CA1969336128 | MYBPC3 | c.1457+14_1457+39delinsGCACGGGGCATGGGTGTTGGGGGCAT (n.1457+14_1457+39delinsGCACGGGGCATGGGTGTTGGGGGCAT) c.1439+14_1439+39delinsGCACGGGGCATGGGTGTTGGGGGCAT (n.1439+14_1439+39delinsGCACGGGGCATGGGTGTTGGGGGCAT) | |
| 11 | g.47342793_47342817del | CA1969336129 | MYBPC3 | c.1457+14_1457+38del (n.1457+14_1457+38del) c.1439+14_1439+38del (n.1439+14_1439+38del) | dbSNP |
| 11 | g.47342793G>A | CA078102 | MYBPC3 | c.1457+37C>T (n.1457+37C>T) c.1439+37C>T (n.1439+37C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47342793G= | CA1969336130 | MYBPC3 | c.1457+37C= (n.1457+37C=) c.1439+37C= (n.1439+37C=) |