| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100407043_100407093delinsGCAGCGCGTAGATGTCGCCTGAGTTGGGATTGATGGAGACATAGGTGAAGA | CA2447976565 | PCDH19 | c.1505_1555delinsTCTTCACCTATGTCTCCATCAATCCCAACTCAGGCGACATCTACGCGCTGC (p.Val502=) | |
| X | g.100407047_100407096del | CA1139667039 | PCDH19 | c.1505_1554del (p.Val502AlafsTer4) | ClinVar dbSNP |
| 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) |