| X | g.100406541_100407019delinsGCAGAGA | CA2580100061 | PCDH19 | c.1579_2057delinsTCTCTGC (p.Lys527SerfsTer11)
| ClinVar |
| X | g.100407004T>A | CA414002378 | PCDH19 | c.1594A>T (p.Lys532Ter)
| |
| X | g.100407004T>C | CA414002379 | PCDH19 | c.1594A>G (p.Lys532Glu)
| |
| X | g.100407004T>G | CA414002380 | PCDH19 | c.1594A>C (p.Lys532Gln)
| |
| X | g.100407005G>A | CA10468867 | PCDH19 | c.1593C>T (p.Phe531=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407005G>C | CA414002381 | PCDH19 | c.1593C>G (p.Phe531Leu)
| dbSNP |
| X | g.100407005G= | CA2447976556 | PCDH19 | c.1593C= (p.Phe531=)
| |
| X | g.100407005G>T | CA333826068 | PCDH19 | c.1593C>A (p.Phe531Leu)
| dbSNP gnomAD v4 |
| X | g.100407006A>C | CA414002382 | PCDH19 | c.1592T>G (p.Phe531Cys)
| |
| X | g.100407006A>G | CA414002383 | PCDH19 | c.1592T>C (p.Phe531Ser)
| |
| X | g.100407006A>T | CA414002384 | PCDH19 | c.1592T>A (p.Phe531Tyr)
| |
| X | g.100407007A>C | CA414002386 | PCDH19 | c.1591T>G (p.Phe531Val)
| |
| X | g.100407007A>G | CA414002387 | PCDH19 | c.1591T>C (p.Phe531Leu)
| |
| X | g.100407007A>T | CA414002385 | PCDH19 | c.1591T>A (p.Phe531Ile)
| |
| X | g.100407008T>A | CA414002388 | PCDH19 | c.1590A>T (p.Glu530Asp)
| |
| X | g.100407008T>C | CA517747971 | PCDH19 | c.1590A>G (p.Glu530=)
| |
| X | g.100407008T>G | CA414002389 | PCDH19 | c.1590A>C (p.Glu530Asp)
| |
| X | g.100407009T>A | CA414002390 | PCDH19 | c.1589A>T (p.Glu530Val)
| |
| X | g.100407009T>C | CA414002391 | PCDH19 | c.1589A>G (p.Glu530Gly)
| |
| X | g.100407009T>G | CA414002392 | PCDH19 | c.1589A>C (p.Glu530Ala)
| |
| X | g.100407010C>A | CA414002395 | PCDH19 | c.1588G>T (p.Glu530Ter)
| |
| X | g.100407010C>G | CA414002393 | PCDH19 | c.1588G>C (p.Glu530Gln)
| |
| X | g.100407010C>T | CA414002394 | PCDH19 | c.1588G>A (p.Glu530Lys)
| COSMIC COSMIC |
| X | g.100407011G>A | CA517747973 | PCDH19 | c.1587C>T (p.Phe529=)
| |
| X | g.100407011G>C | CA414002396 | PCDH19 | c.1587C>G (p.Phe529Leu)
| |
| X | g.100407011G>T | CA414002397 | PCDH19 | c.1587C>A (p.Phe529Leu)
| |
| X | g.100407012A>C | CA414002398 | PCDH19 | c.1586T>G (p.Phe529Cys)
| |
| X | g.100407012A>G | CA414002399 | PCDH19 | c.1586T>C (p.Phe529Ser)
| |
| X | g.100407012A>T | CA414002400 | PCDH19 | c.1586T>A (p.Phe529Tyr)
| |
| X | g.100407013A>C | CA414002401 | PCDH19 | c.1585T>G (p.Phe529Val)
| |
| X | g.100407013A>G | CA414002403 | PCDH19 | c.1585T>C (p.Phe529Leu)
| |
| X | g.100407013A>T | CA414002402 | PCDH19 | c.1585T>A (p.Phe529Ile)
| |
| X | g.100407014C>A | CA517747974 | PCDH19 | c.1584G>T (p.Ala528=)
| gnomAD v4 |
| X | g.100407014C>G | CA517747975 | PCDH19 | c.1584G>C (p.Ala528=)
| |
| X | g.100407014C>T | CA517747976 | PCDH19 | c.1584G>A (p.Ala528=)
| |
| X | g.100407015G>A | CA414002404 | PCDH19 | c.1583C>T (p.Ala528Val)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407015G>C | CA414002405 | PCDH19 | c.1583C>G (p.Ala528Gly)
| |
| X | g.100407015G= | CA2447976557 | PCDH19 | c.1583C= (p.Ala528=)
| |
| X | g.100407015G>T | CA414002406 | PCDH19 | c.1583C>A (p.Ala528Glu)
| |
| X | g.100407016C>A | CA414002407 | PCDH19 | c.1582G>T (p.Ala528Ser)
| |
| X | g.100407016C>G | CA414002408 | PCDH19 | c.1582G>C (p.Ala528Pro)
| |
| X | g.100407016C>T | CA414002409 | PCDH19 | c.1582G>A (p.Ala528Thr)
| |
| X | g.100407017C>A | CA414002410 | PCDH19 | c.1581G>T (p.Lys527Asn)
| |
| X | g.100407017C= | CA2447976558 | PCDH19 | c.1581G= (p.Lys527=)
| |
| X | g.100407017C>G | CA414002411 | PCDH19 | c.1581G>C (p.Lys527Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407017C>T | CA517747978 | PCDH19 | c.1581G>A (p.Lys527=)
| ClinVar |
| X | g.100407018T>A | CA414002412 | PCDH19 | c.1580A>T (p.Lys527Met)
| |
| X | g.100407018T>C | CA414002413 | PCDH19 | c.1580A>G (p.Lys527Arg)
| |
| X | g.100407018T>G | CA414002414 | PCDH19 | c.1580A>C (p.Lys527Thr)
| |
| X | g.100407019T>A | CA414002416 | PCDH19 | c.1579A>T (p.Lys527Ter)
| |
| X | g.100407019T>C | CA414002417 | PCDH19 | c.1579A>G (p.Lys527Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407019T>G | CA414002415 | PCDH19 | c.1579A>C (p.Lys527Gln)
| |
| X | g.100407019T= | CA2447976559 | PCDH19 | c.1579A= (p.Lys527=)
| |
| X | g.100407020G>A | CA517747980 | PCDH19 | c.1578C>T (p.Thr526=)
| |
| X | g.100407020G>C | CA333826069 | PCDH19 | c.1578C>G (p.Thr526=)
| dbSNP gnomAD v4 |
| X | g.100407020G= | CA2447976560 | PCDH19 | c.1578C= (p.Thr526=)
| |
| X | g.100407020G>T | CA517747981 | PCDH19 | c.1578C>A (p.Thr526=)
| COSMIC COSMIC |
| X | g.100407021G>A | CA414002420 | PCDH19 | c.1577C>T (p.Thr526Ile)
| |
| X | g.100407021G>C | CA414002418 | PCDH19 | c.1577C>G (p.Thr526Ser)
| |
| X | g.100407021G>T | CA414002419 | PCDH19 | c.1577C>A (p.Thr526Asn)
| |
| X | g.100407022T>A | CA414002421 | PCDH19 | c.1576A>T (p.Thr526Ser)
| |
| X | g.100407022T>C | CA414002422 | PCDH19 | c.1576A>G (p.Thr526Ala)
| |
| X | g.100407022T>G | CA414002423 | PCDH19 | c.1576A>C (p.Thr526Pro)
| |
| X | g.100407023C>A | CA414002424 | PCDH19 | c.1575G>T (p.Gln525His)
| |
| X | g.100407023C>G | CA414002425 | PCDH19 | c.1575G>C (p.Gln525His)
| |
| X | g.100407023C>T | CA517747983 | PCDH19 | c.1575G>A (p.Gln525=)
| |
| X | g.100407024T>A | CA414002426 | PCDH19 | c.1574A>T (p.Gln525Leu)
| |
| X | g.100407024T>C | CA414002427 | PCDH19 | c.1574A>G (p.Gln525Arg)
| |
| X | g.100407024T>G | CA414002428 | PCDH19 | c.1574A>C (p.Gln525Pro)
| |
| X | g.100407025G>A | CA414002429 | PCDH19 | c.1573C>T (p.Gln525Ter)
| |
| X | g.100407025G>C | CA414002430 | PCDH19 | c.1573C>G (p.Gln525Glu)
| |
| X | g.100407025G>T | CA414002431 | PCDH19 | c.1573C>A (p.Gln525Lys)
| |
| X | g.100407026C>A | CA414002432 | PCDH19 | c.1572G>T (p.Glu524Asp)
| |
| X | g.100407026C>G | CA414002433 | PCDH19 | c.1572G>C (p.Glu524Asp)
| |
| X | g.100407026C>T | CA517747986 | PCDH19 | c.1572G>A (p.Glu524=)
| COSMIC COSMIC |
| X | g.100407027T>A | CA414002434 | PCDH19 | c.1571A>T (p.Glu524Val)
| |
| X | g.100407027T>C | CA414002435 | PCDH19 | c.1571A>G (p.Glu524Gly)
| |
| X | g.100407027T>G | CA414002436 | PCDH19 | c.1571A>C (p.Glu524Ala)
| |
| X | g.100407028C>A | CA414002437 | PCDH19 | c.1570G>T (p.Glu524Ter)
| |
| X | g.100407028C>G | CA414002438 | PCDH19 | c.1570G>C (p.Glu524Gln)
| |
| X | g.100407028C>T | CA414002439 | PCDH19 | c.1570G>A (p.Glu524Lys)
| |
| X | g.100407029G>A | CA10468868 | PCDH19 | c.1569C>T (p.His523=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407029G>C | CA414002440 | PCDH19 | c.1569C>G (p.His523Gln)
| |
| X | g.100407029G= | CA2447976561 | PCDH19 | c.1569C= (p.His523=)
| |
| X | g.100407029G>T | CA414002441 | PCDH19 | c.1569C>A (p.His523Gln)
| ClinVar |
| X | g.100407030T>A | CA414002442 | PCDH19 | c.1568A>T (p.His523Leu)
| |
| X | g.100407030T>C | CA414002443 | PCDH19 | c.1568A>G (p.His523Arg)
| COSMIC COSMIC |
| X | g.100407030T>G | CA414002444 | PCDH19 | c.1568A>C (p.His523Pro)
| ClinVar dbSNP |
| X | g.100407030T= | CA2447976562 | PCDH19 | c.1568A= (p.His523=)
| |
| X | g.100407031G>A | CA414002446 | PCDH19 | c.1567C>T (p.His523Tyr)
| |
| X | g.100407031G>C | CA414002447 | PCDH19 | c.1567C>G (p.His523Asp)
| |
| X | g.100407031G>T | CA414002445 | PCDH19 | c.1567C>A (p.His523Asn)
| |
| X | g.100407032G>A | CA517747993 | PCDH19 | c.1566C>T (p.Asn522=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407032G>C | CA414002448 | PCDH19 | c.1566C>G (p.Asn522Lys)
| |
| X | g.100407032G= | CA2447976563 | PCDH19 | c.1566C= (p.Asn522=)
| |
| X | g.100407032G>T | CA414002449 | PCDH19 | c.1566C>A (p.Asn522Lys)
| |
| X | g.100407033T>A | CA414002450 | PCDH19 | c.1565A>T (p.Asn522Ile)
| COSMIC COSMIC |
| X | g.100407033T>C | CA414002451 | PCDH19 | c.1565A>G (p.Asn522Ser)
| gnomAD v4 |
| X | g.100407033T>G | CA414002452 | PCDH19 | c.1565A>C (p.Asn522Thr)
| |
| X | g.100407034del | CA2499226253 | PCDH19 | c.1565del (p.Asn522ThrfsTer?)
| ClinVar dbSNP |
| X | g.100407034T>A | CA414002453 | PCDH19 | c.1564A>T (p.Asn522Tyr)
| |
| X | g.100407034T>C | CA414002454 | PCDH19 | c.1564A>G (p.Asn522Asp)
| |
| X | g.100407034T>G | CA414002455 | PCDH19 | c.1564A>C (p.Asn522His)
| |
| X | g.100407035A>C | CA414002456 | PCDH19 | c.1563T>G (p.Phe521Leu)
| |
| X | g.100407035A>G | CA517747996 | PCDH19 | c.1563T>C (p.Phe521=)
| gnomAD v4 |
| X | g.100407035A>T | CA414002457 | PCDH19 | c.1563T>A (p.Phe521Leu)
| |
| X | g.100407036A>C | CA414002458 | PCDH19 | c.1562T>G (p.Phe521Cys)
| |
| X | g.100407036A>G | CA414002459 | PCDH19 | c.1562T>C (p.Phe521Ser)
| |
| X | g.100407036A>T | CA414002460 | PCDH19 | c.1562T>A (p.Phe521Tyr)
| |
| X | g.100407037A>C | CA414002463 | PCDH19 | c.1561T>G (p.Phe521Val)
| |
| X | g.100407037A>G | CA414002462 | PCDH19 | c.1561T>C (p.Phe521Leu)
| |
| X | g.100407037A>T | CA414002461 | PCDH19 | c.1561T>A (p.Phe521Ile)
| |
| X | g.100407038G>A | CA517747999 | PCDH19 | c.1560C>T (p.Ser520=)
| |
| X | g.100407038G>C | CA517748001 | PCDH19 | c.1560C>G (p.Ser520=)
| |
| X | g.100407038G>T | CA517748005 | PCDH19 | c.1560C>A (p.Ser520=)
| |
| X | g.100407039G>A | CA414002464 | PCDH19 | c.1559C>T (p.Ser520Phe)
| |
| X | g.100407039G>C | CA414002465 | PCDH19 | c.1559C>G (p.Ser520Cys)
| |
| X | g.100407039G>T | CA414002466 | PCDH19 | c.1559C>A (p.Ser520Tyr)
| COSMIC COSMIC |
| X | g.100407040A>C | CA414002467 | PCDH19 | c.1558T>G (p.Ser520Ala)
| |
| X | g.100407040A>G | CA414002468 | PCDH19 | c.1558T>C (p.Ser520Pro)
| |
| X | g.100407040A>T | CA414002469 | PCDH19 | c.1558T>A (p.Ser520Thr)
| |
| X | g.100407041T>A | CA517748009 | PCDH19 | c.1557A>T (p.Arg519=)
| |
| X | g.100407041T>C | CA517748010 | PCDH19 | c.1557A>G (p.Arg519=)
| |
| X | g.100407041T>G | CA517748011 | PCDH19 | c.1557A>C (p.Arg519=)
| |
| X | g.100407042del | CA2573055041 | PCDH19 | c.1556del (p.Arg519HisfsTer?)
| ClinVar dbSNP |
| X | g.100407042C>A | CA414002470 | PCDH19 | c.1556G>T (p.Arg519Leu)
| |
| X | g.100407042C>G | CA414002471 | PCDH19 | c.1556G>C (p.Arg519Pro)
| |
| X | g.100407042C>T | CA414002472 | PCDH19 | c.1556G>A (p.Arg519Gln)
| COSMIC COSMIC |
| X | g.100407043G>A | CA414002473 | PCDH19 | c.1555C>T (p.Arg519Ter)
| ClinVar dbSNP |
| X | g.100407043G>C | CA414002474 | PCDH19 | c.1555C>G (p.Arg519Gly)
| |
| X | g.100407043G= | CA2447976564 | PCDH19 | c.1555C= (p.Arg519=)
| |
| X | g.100407043G>T | CA517748016 | PCDH19 | c.1555C>A (p.Arg519=)
| |
| X | g.100407043_100407093delinsGCAGCGCGTAGATGTCGCCTGAGTTGGGATTGATGGAGACATAGGTGAAGA | CA2447976565 | PCDH19 | c.1505_1555delinsTCTTCACCTATGTCTCCATCAATCCCAACTCAGGCGACATCTACGCGCTGC (p.Val502=)
| |
| X | g.100407044C>A | CA517748017 | PCDH19 | c.1554G>T (p.Leu518=)
| |
| X | g.100407044C>G | CA517748018 | PCDH19 | c.1554G>C (p.Leu518=)
| |
| X | g.100407044C>T | CA517748019 | PCDH19 | c.1554G>A (p.Leu518=)
| |
| X | g.100407047_100407096del | CA1139667039 | PCDH19 | c.1505_1554del (p.Val502AlafsTer4)
| ClinVar dbSNP |
| X | g.100407045A>C | CA414002475 | PCDH19 | c.1553T>G (p.Leu518Arg)
| |
| X | g.100407045A>G | CA414002476 | PCDH19 | c.1553T>C (p.Leu518Pro)
| COSMIC COSMIC |
| X | g.100407045A>T | CA414002477 | PCDH19 | c.1553T>A (p.Leu518Gln)
| |
| X | g.100407046G>A | CA517748022 | PCDH19 | c.1552C>T (p.Leu518=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407046G>C | CA414002479 | PCDH19 | c.1552C>G (p.Leu518Val)
| dbSNP |
| X | g.100407046G= | CA2447976566 | PCDH19 | c.1552C= (p.Leu518=)
| |
| X | g.100407046G>T | CA414002478 | PCDH19 | c.1552C>A (p.Leu518Met)
| |
| X | g.100407047C>A | CA517748024 | PCDH19 | c.1551G>T (p.Ala517=)
| |
| X | g.100407047C= | CA2447976567 | PCDH19 | c.1551G= (p.Ala517=)
| |
| X | g.100407047C>G | CA517748025 | PCDH19 | c.1551G>C (p.Ala517=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407047C>T | CA517748026 | PCDH19 | c.1551G>A (p.Ala517=)
| |
| X | g.100407048G>A | CA10468869 | PCDH19 | c.1550C>T (p.Ala517Val)
| dbSNP ExAC COSMIC COSMIC |
| X | g.100407048G>C | CA414002480 | PCDH19 | c.1550C>G (p.Ala517Gly)
| |
| X | g.100407048G= | CA2447976568 | PCDH19 | c.1550C= (p.Ala517=)
| |
| X | g.100407048G>T | CA414002481 | PCDH19 | c.1550C>A (p.Ala517Glu)
| |
| X | g.100407049C>A | CA414002482 | PCDH19 | c.1549G>T (p.Ala517Ser)
| |
| X | g.100407049C= | CA2447976569 | PCDH19 | c.1549G= (p.Ala517=)
| |
| X | g.100407049C>G | CA414002483 | PCDH19 | c.1549G>C (p.Ala517Pro)
| |
| X | g.100407049C>T | CA10468870 | PCDH19 | c.1549G>A (p.Ala517Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407050G>A | CA172941 | PCDH19 | c.1548C>T (p.Tyr516=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407050G>C | CA414002486 | PCDH19 | c.1548C>G (p.Tyr516Ter)
| |
| X | g.100407050G= | CA2447976570 | PCDH19 | c.1548C= (p.Tyr516=)
| |
| X | g.100407050G>T | CA414002485 | PCDH19 | c.1548C>A (p.Tyr516Ter)
| ClinVar dbSNP COSMIC COSMIC |
| X | g.100407051T>A | CA414002487 | PCDH19 | c.1547A>T (p.Tyr516Phe)
| |
| X | g.100407051T>C | CA414002488 | PCDH19 | c.1547A>G (p.Tyr516Cys)
| |
| X | g.100407051T>G | CA414002489 | PCDH19 | c.1547A>C (p.Tyr516Ser)
| |
| X | g.100407052A>C | CA414002490 | PCDH19 | c.1546T>G (p.Tyr516Asp)
| |
| X | g.100407052A>G | CA414002491 | PCDH19 | c.1546T>C (p.Tyr516His)
| |
| X | g.100407052A>T | CA414002492 | PCDH19 | c.1546T>A (p.Tyr516Asn)
| |
| X | g.100407053G>A | CA517748038 | PCDH19 | c.1545C>T (p.Ile515=)
| gnomAD v4 |
| X | g.100407053G>C | CA414002493 | PCDH19 | c.1545C>G (p.Ile515Met)
| |
| X | g.100407053G>T | CA517748041 | PCDH19 | c.1545C>A (p.Ile515=)
| COSMIC COSMIC |
| X | g.100407054A>C | CA414002494 | PCDH19 | c.1544T>G (p.Ile515Ser)
| |
| X | g.100407054A>G | CA414002496 | PCDH19 | c.1544T>C (p.Ile515Thr)
| |
| X | g.100407054A>T | CA414002495 | PCDH19 | c.1544T>A (p.Ile515Asn)
| |
| X | g.100407055T>A | CA414002497 | PCDH19 | c.1543A>T (p.Ile515Phe)
| dbSNP |
| X | g.100407055T>C | CA414002498 | PCDH19 | c.1543A>G (p.Ile515Val)
| |
| X | g.100407055T>G | CA414002499 | PCDH19 | c.1543A>C (p.Ile515Leu)
| |
| X | g.100407055T= | CA2447976571 | PCDH19 | c.1543A= (p.Ile515=)
| |
| X | g.100407056G>A | CA517748047 | PCDH19 | c.1542C>T (p.Asp514=)
| gnomAD v4 |
| X | g.100407056G>C | CA414002500 | PCDH19 | c.1542C>G (p.Asp514Glu)
| |
| X | g.100407056G>T | CA414002501 | PCDH19 | c.1542C>A (p.Asp514Glu)
| |
| X | g.100407057T>A | CA414002502 | PCDH19 | c.1541A>T (p.Asp514Val)
| |
| X | g.100407057T>C | CA414002503 | PCDH19 | c.1541A>G (p.Asp514Gly)
| |
| X | g.100407057T>G | CA414002504 | PCDH19 | c.1541A>C (p.Asp514Ala)
| |
| X | g.100407058C>A | CA414002505 | PCDH19 | c.1540G>T (p.Asp514Tyr)
| |
| X | g.100407058C>G | CA414002506 | PCDH19 | c.1540G>C (p.Asp514His)
| |
| X | g.100407058C>T | CA414002507 | PCDH19 | c.1540G>A (p.Asp514Asn)
| COSMIC |
| X | g.100407059G>A | CA517748052 | PCDH19 | c.1539C>T (p.Gly513=)
| dbSNP COSMIC COSMIC |
| X | g.100407059G>C | CA10468871 | PCDH19 | c.1539C>G (p.Gly513=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407059G= | CA2447976572 | PCDH19 | c.1539C= (p.Gly513=)
| |
| X | g.100407059G>T | CA517748053 | PCDH19 | c.1539C>A (p.Gly513=)
| |
| X | g.100407060C>A | CA414002510 | PCDH19 | c.1538G>T (p.Gly513Val)
| ClinVar dbSNP COSMIC COSMIC |
| X | g.100407060C= | CA2447976573 | PCDH19 | c.1538G= (p.Gly513=)
| |
| X | g.100407060C>G | CA414002508 | PCDH19 | c.1538G>C (p.Gly513Ala)
| COSMIC COSMIC |
| X | g.100407060C>T | CA414002509 | PCDH19 | c.1538G>A (p.Gly513Asp)
| ClinVar dbSNP |
| X | g.100407061del | CA2739273663 | PCDH19 | c.1538del (p.Gly513AlafsTer?)
| ClinVar |
| X | g.100407061C>A | CA414002511 | PCDH19 | c.1537G>T (p.Gly513Cys)
| |
| X | g.100407061C>G | CA414002512 | PCDH19 | c.1537G>C (p.Gly513Arg)
| |
| X | g.100407061C>T | CA414002513 | PCDH19 | c.1537G>A (p.Gly513Ser)
| |
| X | g.100407062T>A | CA517748059 | PCDH19 | c.1536A>T (p.Ser512=)
| ClinVar |
| X | g.100407062T>C | CA517748061 | PCDH19 | c.1536A>G (p.Ser512=)
| dbSNP |
| X | g.100407062T>G | CA517748060 | PCDH19 | c.1536A>C (p.Ser512=)
| |
| X | g.100407063G>A | CA10468872 | PCDH19 | c.1535C>T (p.Ser512Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.100407063G>C | CA414002514 | PCDH19 | c.1535C>G (p.Ser512Ter)
| |
| X | g.100407063G= | CA2447976574 | PCDH19 | c.1535C= (p.Ser512=)
| |
| X | g.100407063G>T | CA414002515 | PCDH19 | c.1535C>A (p.Ser512Ter)
| ClinVar dbSNP |
| X | g.100407064A>C | CA414002518 | PCDH19 | c.1534T>G (p.Ser512Ala)
| |
| X | g.100407064A>G | CA414002517 | PCDH19 | c.1534T>C (p.Ser512Pro)
| |
| X | g.100407064A>T | CA414002516 | PCDH19 | c.1534T>A (p.Ser512Thr)
| gnomAD v4 |
| X | g.100407065G>A | CA10468873 | PCDH19 | c.1533C>T (p.Asn511=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407065G>C | CA414002519 | PCDH19 | c.1533C>G (p.Asn511Lys)
| |
| X | g.100407065G= | CA2447976575 | PCDH19 | c.1533C= (p.Asn511=)
| |
| X | g.100407065G>T | CA414002520 | PCDH19 | c.1533C>A (p.Asn511Lys)
| |
| X | g.100407066T>A | CA414002521 | PCDH19 | c.1532A>T (p.Asn511Ile)
| |
| X | g.100407066T>C | CA10468874 | PCDH19 | c.1532A>G (p.Asn511Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407066T>G | CA414002522 | PCDH19 | c.1532A>C (p.Asn511Thr)
| |
| X | g.100407066T= | CA2447976576 | PCDH19 | c.1532A= (p.Asn511=)
| |
| X | g.100407067T>A | CA414002523 | PCDH19 | c.1531A>T (p.Asn511Tyr)
| |
| X | g.100407067T>C | CA414002525 | PCDH19 | c.1531A>G (p.Asn511Asp)
| |
| X | g.100407067T>G | CA414002524 | PCDH19 | c.1531A>C (p.Asn511His)
| |
| X | g.100407068G>A | CA517748075 | PCDH19 | c.1530C>T (p.Pro510=)
| gnomAD v4 |
| X | g.100407068G>C | CA517748080 | PCDH19 | c.1530C>G (p.Pro510=)
| |
| X | g.100407068G>T | CA517748077 | PCDH19 | c.1530C>A (p.Pro510=)
| |
| X | g.100407068_100407069delinsAA | CA645609349 | PCDH19 | c.1529_1530delinsTT (p.Pro510Leu)
| COSMIC COSMIC |
| X | g.100407069G>A | CA414002526 | PCDH19 | c.1529C>T (p.Pro510Leu)
| |
| X | g.100407069G>C | CA414002527 | PCDH19 | c.1529C>G (p.Pro510Arg)
| |
| X | g.100407069G>T | CA414002528 | PCDH19 | c.1529C>A (p.Pro510His)
| |
| X | g.100407070G>A | CA414002529 | PCDH19 | c.1528C>T (p.Pro510Ser)
| |
| X | g.100407070G>C | CA414002530 | PCDH19 | c.1528C>G (p.Pro510Ala)
| |
| X | g.100407070G>T | CA414002531 | PCDH19 | c.1528C>A (p.Pro510Thr)
| |
| X | g.100407071_100407077del | CA2695235310 | PCDH19 | c.1522_1528del (p.Ile508ProfsTer?)
| |
| X | g.100407071A>C | CA414002532 | PCDH19 | c.1527T>G (p.Asn509Lys)
| |
| X | g.100407071A>G | CA517748084 | PCDH19 | c.1527T>C (p.Asn509=)
| |
| X | g.100407071A>T | CA414002533 | PCDH19 | c.1527T>A (p.Asn509Lys)
| |
| X | g.100407072T>A | CA414002534 | PCDH19 | c.1526A>T (p.Asn509Ile)
| |
| X | g.100407072T>C | CA414002535 | PCDH19 | c.1526A>G (p.Asn509Ser)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407072T>G | CA414002536 | PCDH19 | c.1526A>C (p.Asn509Thr)
| |
| X | g.100407072T= | CA2447976577 | PCDH19 | c.1526A= (p.Asn509=)
| |
| X | g.100407073T>A | CA414002537 | PCDH19 | c.1525A>T (p.Asn509Tyr)
| |
| X | g.100407073T>C | CA414002539 | PCDH19 | c.1525A>G (p.Asn509Asp)
| |
| X | g.100407073T>G | CA414002538 | PCDH19 | c.1525A>C (p.Asn509His)
| |
| X | g.100407074G>A | CA517748087 | PCDH19 | c.1524C>T (p.Ile508=)
| |
| X | g.100407074G>C | CA414002540 | PCDH19 | c.1524C>G (p.Ile508Met)
| COSMIC COSMIC |
| X | g.100407074G>T | CA517748093 | PCDH19 | c.1524C>A (p.Ile508=)
| gnomAD v4 |
| X | g.100407075A>C | CA414002541 | PCDH19 | c.1523T>G (p.Ile508Ser)
| |
| X | g.100407075A>G | CA414002542 | PCDH19 | c.1523T>C (p.Ile508Thr)
| |
| X | g.100407075A>T | CA414002543 | PCDH19 | c.1523T>A (p.Ile508Asn)
| |
| X | g.100407076T>A | CA414002544 | PCDH19 | c.1522A>T (p.Ile508Phe)
| |
| X | g.100407076T>C | CA414002545 | PCDH19 | c.1522A>G (p.Ile508Val)
| |
| X | g.100407076T>G | CA414002546 | PCDH19 | c.1522A>C (p.Ile508Leu)
| |
| X | g.100407076_100407077delinsTG | CA2447976578 | PCDH19 | c.1521_1522delinsCA (p.Ser507=)
| |
| X | g.100407077G>A | CA517748098 | PCDH19 | c.1521C>T (p.Ser507=)
| |
| X | g.100407077G>C | CA517748100 | PCDH19 | c.1521C>G (p.Ser507=)
| |
| X | g.100407077G= | CA2447976579 | PCDH19 | c.1521C= (p.Ser507=)
| |
| X | g.100407077G>T | CA517748103 | PCDH19 | c.1521C>A (p.Ser507=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407078dup | CA658799824 | PCDH19 | c.1521dup (p.Ile508HisfsTer15)
| ClinVar dbSNP |
| X | g.100407078del | CA645369810 | PCDH19 | c.1521del (p.Ile508SerfsTer?)
| ClinVar dbSNP |
| X | g.100407078G>A | CA414002547 | PCDH19 | c.1520C>T (p.Ser507Phe)
| |
| X | g.100407078G>C | CA414002548 | PCDH19 | c.1520C>G (p.Ser507Cys)
| |
| X | g.100407078G>T | CA414002549 | PCDH19 | c.1520C>A (p.Ser507Tyr)
| |
| X | g.100407079A>C | CA414002550 | PCDH19 | c.1519T>G (p.Ser507Ala)
| |
| X | g.100407079A>G | CA414002551 | PCDH19 | c.1519T>C (p.Ser507Pro)
| |
| X | g.100407079A>T | CA414002552 | PCDH19 | c.1519T>A (p.Ser507Thr)
| |
| X | g.100407080G>A | CA517748108 | PCDH19 | c.1518C>T (p.Val506=)
| gnomAD v4 |
| X | g.100407080G>C | CA517748109 | PCDH19 | c.1518C>G (p.Val506=)
| |
| X | g.100407080G= | CA2447976580 | PCDH19 | c.1518C= (p.Val506=)
| |
| X | g.100407080G>T | CA517748111 | PCDH19 | c.1518C>A (p.Val506=)
| ClinVar dbSNP |
| X | g.100407081A>C | CA414002555 | PCDH19 | c.1517T>G (p.Val506Gly)
| |
| X | g.100407081A>G | CA414002554 | PCDH19 | c.1517T>C (p.Val506Ala)
| |
| X | g.100407081A>T | CA414002553 | PCDH19 | c.1517T>A (p.Val506Asp)
| |
| X | g.100407082C>A | CA414002556 | PCDH19 | c.1516G>T (p.Val506Phe)
| |
| X | g.100407082C>G | CA414002557 | PCDH19 | c.1516G>C (p.Val506Leu)
| |
| X | g.100407082C>T | CA414002558 | PCDH19 | c.1516G>A (p.Val506Ile)
| ClinVar |
| X | g.100407083A>C | CA414002559 | PCDH19 | c.1515T>G (p.Tyr505Ter)
| |
| X | g.100407083A>G | CA517748116 | PCDH19 | c.1515T>C (p.Tyr505=)
| |
| X | g.100407083A>T | CA414002560 | PCDH19 | c.1515T>A (p.Tyr505Ter)
| |
| X | g.100407084_100407085del | CA2695235311 | PCDH19 | c.1514_1515del (p.Tyr505CysfsTer17)
| |
| X | g.100407084T>A | CA414002561 | PCDH19 | c.1514A>T (p.Tyr505Phe)
| |
| X | g.100407084T>C | CA414002562 | PCDH19 | c.1514A>G (p.Tyr505Cys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407084T>G | CA414002563 | PCDH19 | c.1514A>C (p.Tyr505Ser)
| |
| X | g.100407084T= | CA2447976581 | PCDH19 | c.1514A= (p.Tyr505=)
| |
| X | g.100407085A>C | CA414002564 | PCDH19 | c.1513T>G (p.Tyr505Asp)
| |
| X | g.100407085A>G | CA414002565 | PCDH19 | c.1513T>C (p.Tyr505His)
| gnomAD v4 |
| X | g.100407085A>T | CA414002566 | PCDH19 | c.1513T>A (p.Tyr505Asn)
| |
| X | g.100407086G>A | CA517748119 | PCDH19 | c.1512C>T (p.Thr504=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407086G>C | CA517748120 | PCDH19 | c.1512C>G (p.Thr504=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407086G= | CA2447976582 | PCDH19 | c.1512C= (p.Thr504=)
| |
| X | g.100407086G>T | CA517748121 | PCDH19 | c.1512C>A (p.Thr504=)
| |
| X | g.100407087G>A | CA414002567 | PCDH19 | c.1511C>T (p.Thr504Ile)
| |
| X | g.100407087G>C | CA414002568 | PCDH19 | c.1511C>G (p.Thr504Ser)
| |
| X | g.100407087G>T | CA414002569 | PCDH19 | c.1511C>A (p.Thr504Asn)
| |
| X | g.100407088T>A | CA414002571 | PCDH19 | c.1510A>T (p.Thr504Ser)
| |
| X | g.100407088T>C | CA414002572 | PCDH19 | c.1510A>G (p.Thr504Ala)
| COSMIC COSMIC |
| X | g.100407088T>G | CA414002570 | PCDH19 | c.1510A>C (p.Thr504Pro)
| |
| X | g.100407089G>A | CA517748122 | PCDH19 | c.1509C>T (p.Phe503=)
| dbSNP |
| X | g.100407089G>C | CA414002573 | PCDH19 | c.1509C>G (p.Phe503Leu)
| |
| X | g.100407089G= | CA2447976583 | PCDH19 | c.1509C= (p.Phe503=)
| |
| X | g.100407089G>T | CA414002574 | PCDH19 | c.1509C>A (p.Phe503Leu)
| |
| X | g.100407090A>C | CA414002575 | PCDH19 | c.1508T>G (p.Phe503Cys)
| |
| X | g.100407090A>G | CA414002576 | PCDH19 | c.1508T>C (p.Phe503Ser)
| |
| X | g.100407090A>T | CA414002577 | PCDH19 | c.1508T>A (p.Phe503Tyr)
| |
| X | g.100407091dup | CA2695235312 | PCDH19 | c.1508dup (p.Thr504HisfsTer19)
| |
| X | g.100407091A>C | CA414002578 | PCDH19 | c.1507T>G (p.Phe503Val)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407091A>G | CA414002579 | PCDH19 | c.1507T>C (p.Phe503Leu)
| |
| X | g.100407091A>T | CA414002580 | PCDH19 | c.1507T>A (p.Phe503Ile)
| |
| X | g.100407092G>A | CA517748130 | PCDH19 | c.1506C>T (p.Val502=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407092G>C | CA517748131 | PCDH19 | c.1506C>G (p.Val502=)
| |
| X | g.100407092G= | CA2447976584 | PCDH19 | c.1506C= (p.Val502=)
| |
| X | g.100407092G>T | CA517748132 | PCDH19 | c.1506C>A (p.Val502=)
| |
| X | g.100407093A>C | CA414002581 | PCDH19 | c.1505T>G (p.Val502Gly)
| |
| X | g.100407093A>G | CA414002582 | PCDH19 | c.1505T>C (p.Val502Ala)
| gnomAD v4 |
| X | g.100407093A>T | CA414002583 | PCDH19 | c.1505T>A (p.Val502Asp)
| |
| X | g.100407094C>A | CA414002586 | PCDH19 | c.1504G>T (p.Val502Phe)
| |
| X | g.100407094C>G | CA414002585 | PCDH19 | c.1504G>C (p.Val502Leu)
| |
| X | g.100407094C>T | CA414002584 | PCDH19 | c.1504G>A (p.Val502Ile)
| |
| X | g.100407095A= | CA2447976585 | PCDH19 | c.1503T= (p.Pro501=)
| |
| X | g.100407095A>C | CA517748136 | PCDH19 | c.1503T>G (p.Pro501=)
| dbSNP |
| X | g.100407095A>G | CA517748137 | PCDH19 | c.1503T>C (p.Pro501=)
| |
| X | g.100407095A>T | CA517748140 | PCDH19 | c.1503T>A (p.Pro501=)
| |
| X | g.100407096G>A | CA414002587 | PCDH19 | c.1502C>T (p.Pro501Leu)
| gnomAD v4 |
| X | g.100407096G>C | CA414002588 | PCDH19 | c.1502C>G (p.Pro501Arg)
| |
| X | g.100407096G>T | CA414002589 | PCDH19 | c.1502C>A (p.Pro501His)
| |
| X | g.100407097G>A | CA414002590 | PCDH19 | c.1501C>T (p.Pro501Ser)
| ClinVar dbSNP |
| X | g.100407097G>C | CA414002591 | PCDH19 | c.1501C>G (p.Pro501Ala)
| |
| X | g.100407097G>T | CA414002592 | PCDH19 | c.1501C>A (p.Pro501Thr)
| |
| X | g.100407098del | CA2739273664 | PCDH19 | c.1500del (p.Met500IlefsTer?)
| ClinVar |
| X | g.100407098C>A | CA414002593 | PCDH19 | c.1500G>T (p.Met500Ile)
| gnomAD v4 |
| X | g.100407098C>G | CA414002594 | PCDH19 | c.1500G>C (p.Met500Ile)
| |
| X | g.100407098C>T | CA414002595 | PCDH19 | c.1500G>A (p.Met500Ile)
| |
| X | g.100407098dup | CA2573159037 | PCDH19 | c.1500dup (p.Pro501AlafsTer22)
| ClinVar dbSNP |
| X | g.100407099A>C | CA414002596 | PCDH19 | c.1499T>G (p.Met500Arg)
| |
| X | g.100407099A>G | CA414002597 | PCDH19 | c.1499T>C (p.Met500Thr)
| |
| X | g.100407099A>T | CA414002598 | PCDH19 | c.1499T>A (p.Met500Lys)
| |
| X | g.100407100T>A | CA414002601 | PCDH19 | c.1498A>T (p.Met500Leu)
| |
| X | g.100407100T>C | CA414002600 | PCDH19 | c.1498A>G (p.Met500Val)
| |
| X | g.100407100T>G | CA414002599 | PCDH19 | c.1498A>C (p.Met500Leu)
| |
| X | g.100407101G>A | CA517748155 | PCDH19 | c.1497C>T (p.Asp499=)
| |
| X | g.100407101G>C | CA414002602 | PCDH19 | c.1497C>G (p.Asp499Glu)
| |
| X | g.100407101G= | CA2447976586 | PCDH19 | c.1497C= (p.Asp499=)
| |
| X | g.100407101G>T | CA10468875 | PCDH19 | c.1497C>A (p.Asp499Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407102T>A | CA414002603 | PCDH19 | c.1496A>T (p.Asp499Val)
| |
| X | g.100407102T>C | CA414002604 | PCDH19 | c.1496A>G (p.Asp499Gly)
| |
| X | g.100407102T>G | CA414002605 | PCDH19 | c.1496A>C (p.Asp499Ala)
| |
| X | g.100407103C>A | CA414002606 | PCDH19 | c.1495G>T (p.Asp499Tyr)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407103C= | CA2447976587 | PCDH19 | c.1495G= (p.Asp499=)
| |
| X | g.100407103C>G | CA414002607 | PCDH19 | c.1495G>C (p.Asp499His)
| |
| X | g.100407103C>T | CA414002608 | PCDH19 | c.1495G>A (p.Asp499Asn)
| |
| X | g.100407104C>A | CA517748166 | PCDH19 | c.1494G>T (p.Arg498=)
| |
| X | g.100407104C>G | CA517748169 | PCDH19 | c.1494G>C (p.Arg498=)
| |
| X | g.100407104C>T | CA517748168 | PCDH19 | c.1494G>A (p.Arg498=)
| COSMIC |
