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 |
|---|---|---|---|---|---|
| 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.100407071_100407077del | CA2695235310 | PCDH19 | c.1522_1528del (p.Ile508ProfsTer?) | |
| 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 |
| X | g.100407105C>A | CA414002609 | PCDH19 | c.1493G>T (p.Arg498Leu) | |
| X | g.100407105C>G | CA414002610 | PCDH19 | c.1493G>C (p.Arg498Pro) | gnomAD v4 |
| X | g.100407105C>T | CA414002611 | PCDH19 | c.1493G>A (p.Arg498Gln) | |
| X | g.100407106G>A | CA414002612 | PCDH19 | c.1492C>T (p.Arg498Trp) | gnomAD v4 |
| X | g.100407106G>C | CA414002613 | PCDH19 | c.1492C>G (p.Arg498Gly) | |
| X | g.100407106G>T | CA517748171 | PCDH19 | c.1492C>A (p.Arg498=) | |
| X | g.100407107C>A | CA517748173 | PCDH19 | c.1491G>T (p.Val497=) | |
| X | g.100407107C>G | CA517748174 | PCDH19 | c.1491G>C (p.Val497=) | |
| X | g.100407107C>T | CA517748175 | PCDH19 | c.1491G>A (p.Val497=) | |
| X | g.100407108A>C | CA414002614 | PCDH19 | c.1490T>G (p.Val497Gly) | |
| X | g.100407108A>G | CA414002615 | PCDH19 | c.1490T>C (p.Val497Ala) | |
| X | g.100407108A>T | CA414002616 | PCDH19 | c.1490T>A (p.Val497Glu) | |
| X | g.100407109C>A | CA414002619 | PCDH19 | c.1489G>T (p.Val497Leu) | |
| X | g.100407109C>G | CA414002618 | PCDH19 | c.1489G>C (p.Val497Leu) | |
| X | g.100407109C>T | CA414002617 | PCDH19 | c.1489G>A (p.Val497Met) | |
| X | g.100407110C>A | CA414002620 | PCDH19 | c.1488G>T (p.Gln496His) | COSMIC |
| X | g.100407110C>G | CA414002621 | PCDH19 | c.1488G>C (p.Gln496His) | ClinVar dbSNP |
| X | g.100407110C>T | CA517748181 | PCDH19 | c.1488G>A (p.Gln496=) | |
| X | g.100407111T>A | CA414002622 | PCDH19 | c.1487A>T (p.Gln496Leu) | |
| X | g.100407111T>C | CA414002623 | PCDH19 | c.1487A>G (p.Gln496Arg) | |
| X | g.100407111T>G | CA414002624 | PCDH19 | c.1487A>C (p.Gln496Pro) | |
| X | g.100407112G>A | CA414002625 | PCDH19 | c.1486C>T (p.Gln496Ter) | |
| X | g.100407112G>C | CA414002626 | PCDH19 | c.1486C>G (p.Gln496Glu) | |
| X | g.100407112G>T | CA414002627 | PCDH19 | c.1486C>A (p.Gln496Lys) | |
| X | g.100407112_100407120delinsGCGACGGCA | CA2447976588 | PCDH19 | c.1478_1486delinsTGCCGTCGC (p.Val493=) | |
| X | g.100407113C>A | CA517748183 | PCDH19 | c.1485G>T (p.Ser495=) | ClinVar |
| X | g.100407113C= | CA2447976589 | PCDH19 | c.1485G= (p.Ser495=) | |
| X | g.100407113C>G | CA517748184 | PCDH19 | c.1485G>C (p.Ser495=) | |
| X | g.100407113C>T | CA10468876 | PCDH19 | c.1485G>A (p.Ser495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407116_100407123del | CA645369811 | PCDH19 | c.1478_1485del (p.Val493AlafsTer27) | ClinVar dbSNP |
| X | g.100407114G>A | CA414002628 | PCDH19 | c.1484C>T (p.Ser495Leu) | gnomAD v4 COSMIC |
| X | g.100407114G>C | CA414002629 | PCDH19 | c.1484C>G (p.Ser495Trp) | |
| X | g.100407114G>T | CA414002630 | PCDH19 | c.1484C>A (p.Ser495Ter) | |
| X | g.100407114_100407119delinsGACGGC | CA2447976590 | PCDH19 | c.1479_1484delinsGCCGTC (p.Val493=) | |
| X | g.100407115A>C | CA414002631 | PCDH19 | c.1483T>G (p.Ser495Ala) | |
| X | g.100407115A>G | CA414002632 | PCDH19 | c.1483T>C (p.Ser495Pro) | ClinVar dbSNP |
| X | g.100407115A>T | CA414002633 | PCDH19 | c.1483T>A (p.Ser495Thr) | |
| X | g.100407118_100407122del | CA1139667040 | PCDH19 | c.1479_1483del (p.Pro494AlafsTer27) | ClinVar dbSNP |
| X | g.100407116C>A | CA517748199 | PCDH19 | c.1482G>T (p.Pro494=) | |
| X | g.100407116C= | CA2447976591 | PCDH19 | c.1482G= (p.Pro494=) | |
| X | g.100407116C>G | CA517748201 | PCDH19 | c.1482G>C (p.Pro494=) | |
| X | g.100407116C>T | CA517748202 | PCDH19 | c.1482G>A (p.Pro494=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407117G>A | CA414002635 | PCDH19 | c.1481C>T (p.Pro494Leu) | ClinVar |
| X | g.100407117G>C | CA414002636 | PCDH19 | c.1481C>G (p.Pro494Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407117G= | CA2447976592 | PCDH19 | c.1481C= (p.Pro494=) | |
| X | g.100407117G>T | CA414002634 | PCDH19 | c.1481C>A (p.Pro494Gln) | |
| X | g.100407118G>A | CA414002637 | PCDH19 | c.1480C>T (p.Pro494Ser) | |
| X | g.100407118G>C | CA414002638 | PCDH19 | c.1480C>G (p.Pro494Ala) | |
| X | g.100407118G= | CA2447976593 | PCDH19 | c.1480C= (p.Pro494=) | |
| X | g.100407118G>T | CA10468877 | PCDH19 | c.1480C>A (p.Pro494Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407119C>A | CA517748210 | PCDH19 | c.1479G>T (p.Val493=) | |
| X | g.100407119C>G | CA517748208 | PCDH19 | c.1479G>C (p.Val493=) | |
| X | g.100407119C>T | CA517748209 | PCDH19 | c.1479G>A (p.Val493=) | |
| X | g.100407120A= | CA2447976594 | PCDH19 | c.1478T= (p.Val493=) | |
| X | g.100407120A>C | CA414002639 | PCDH19 | c.1478T>G (p.Val493Gly) | |
| X | g.100407120A>G | CA414002640 | PCDH19 | c.1478T>C (p.Val493Ala) | COSMIC |
| X | g.100407120A>T | CA16616609 | PCDH19 | c.1478T>A (p.Val493Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.100407121C>A | CA414002641 | PCDH19 | c.1477G>T (p.Val493Leu) | |
| X | g.100407121C= | CA2447976595 | PCDH19 | c.1477G= (p.Val493=) | |
| X | g.100407121C>G | CA414002642 | PCDH19 | c.1477G>C (p.Val493Leu) | |
| X | g.100407121C>T | CA10468878 | PCDH19 | c.1477G>A (p.Val493Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407122G>A | CA517748213 | PCDH19 | c.1476C>T (p.Ile492=) | |
| X | g.100407122G>C | CA414002643 | PCDH19 | c.1476C>G (p.Ile492Met) | |
| X | g.100407122G>T | CA517748216 | PCDH19 | c.1476C>A (p.Ile492=) | |
| X | g.100407123A>C | CA414002644 | PCDH19 | c.1475T>G (p.Ile492Ser) | |
| X | g.100407123A>G | CA414002645 | PCDH19 | c.1475T>C (p.Ile492Thr) | |
| X | g.100407123A>T | CA414002646 | PCDH19 | c.1475T>A (p.Ile492Asn) | |
| X | g.100407124T>A | CA414002648 | PCDH19 | c.1474A>T (p.Ile492Phe) | |
| X | g.100407124T>C | CA414002649 | PCDH19 | c.1474A>G (p.Ile492Val) | |
| X | g.100407124T>G | CA414002647 | PCDH19 | c.1474A>C (p.Ile492Leu) | |
| X | g.100407125C>A | CA414002650 | PCDH19 | c.1473G>T (p.Gln491His) | |
| X | g.100407125C>G | CA414002651 | PCDH19 | c.1473G>C (p.Gln491His) | |
| X | g.100407125C>T | CA517748224 | PCDH19 | c.1473G>A (p.Gln491=) | |
| X | g.100407126T>A | CA414002652 | PCDH19 | c.1472A>T (p.Gln491Leu) | |
| X | g.100407126T>C | CA414002653 | PCDH19 | c.1472A>G (p.Gln491Arg) | |
| X | g.100407126T>G | CA414002654 | PCDH19 | c.1472A>C (p.Gln491Pro) | |
| X | g.100407127G>A | CA414002657 | PCDH19 | c.1471C>T (p.Gln491Ter) | |
| X | g.100407127G>C | CA414002655 | PCDH19 | c.1471C>G (p.Gln491Glu) | gnomAD v4 |
| X | g.100407127G>T | CA414002656 | PCDH19 | c.1471C>A (p.Gln491Lys) | |
| X | g.100407128G>A | CA517748228 | PCDH19 | c.1470C>T (p.Tyr490=) | gnomAD v4 |
| X | g.100407128G>C | CA414002658 | PCDH19 | c.1470C>G (p.Tyr490Ter) | |
| X | g.100407128G>T | CA414002659 | PCDH19 | c.1470C>A (p.Tyr490Ter) | |
| X | g.100407129T>A | CA414002660 | PCDH19 | c.1469A>T (p.Tyr490Phe) | |
| X | g.100407129T>C | CA414002661 | PCDH19 | c.1469A>G (p.Tyr490Cys) | ClinVar dbSNP |
| X | g.100407129T>G | CA414002662 | PCDH19 | c.1469A>C (p.Tyr490Ser) | ClinVar dbSNP |
| X | g.100407129T= | CA2447976596 | PCDH19 | c.1469A= (p.Tyr490=) | |
| X | g.100407130A= | CA2447976597 | PCDH19 | c.1468T= (p.Tyr490=) | |
| X | g.100407130A>C | CA414002663 | PCDH19 | c.1468T>G (p.Tyr490Asp) | |
| X | g.100407130A>G | CA414002665 | PCDH19 | c.1468T>C (p.Tyr490His) | dbSNP |
| X | g.100407130A>T | CA414002664 | PCDH19 | c.1468T>A (p.Tyr490Asn) | |
| X | g.100407132_100407134del | CA2695235313 | PCDH19 | c.1466_1468del (p.Ser489del) | |
| X | g.100407131G>A | CA10468879 | PCDH19 | c.1467C>T (p.Ser489=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407131G>C | CA517748238 | PCDH19 | c.1467C>G (p.Ser489=) | gnomAD v4 |
| X | g.100407131G= | CA2447976598 | PCDH19 | c.1467C= (p.Ser489=) | |
| X | g.100407131G>T | CA517748239 | PCDH19 | c.1467C>A (p.Ser489=) | |
| X | g.100407132G>A | CA414002668 | PCDH19 | c.1466C>T (p.Ser489Phe) | gnomAD v4 |
| X | g.100407132G>C | CA414002666 | PCDH19 | c.1466C>G (p.Ser489Cys) | |
| X | g.100407132G>T | CA414002667 | PCDH19 | c.1466C>A (p.Ser489Tyr) | |
| X | g.100407133A= | CA2447976599 | PCDH19 | c.1465T= (p.Ser489=) | |
| X | g.100407133A>C | CA414002669 | PCDH19 | c.1465T>G (p.Ser489Ala) | |
| X | g.100407133A>G | CA414002670 | PCDH19 | c.1465T>C (p.Ser489Pro) | ClinVar dbSNP |
| X | g.100407133A>T | CA414002671 | PCDH19 | c.1465T>A (p.Ser489Thr) | |
| X | g.100407134G>A | CA517748248 | PCDH19 | c.1464C>T (p.Val488=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407134G>C | CA517748250 | PCDH19 | c.1464C>G (p.Val488=) | |
| X | g.100407134G= | CA2447976600 | PCDH19 | c.1464C= (p.Val488=) | |
| X | g.100407134G>T | CA517748251 | PCDH19 | c.1464C>A (p.Val488=) | gnomAD v4 |
| X | g.100407135A>C | CA414002672 | PCDH19 | c.1463T>G (p.Val488Gly) | |
| X | g.100407135A>G | CA414002673 | PCDH19 | c.1463T>C (p.Val488Ala) | gnomAD v4 |
| X | g.100407135A>T | CA414002674 | PCDH19 | c.1463T>A (p.Val488Asp) | |
| X | g.100407136C>A | CA414002675 | PCDH19 | c.1462G>T (p.Val488Phe) | COSMIC |
| X | g.100407136C= | CA2447976601 | PCDH19 | c.1462G= (p.Val488=) | |
| X | g.100407136C>G | CA414002676 | PCDH19 | c.1462G>C (p.Val488Leu) | |
| X | g.100407136C>T | CA10468880 | PCDH19 | c.1462G>A (p.Val488Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407137del | CA2580100137 | PCDH19 | c.1461del (p.Ser487ArgfsTer?) | ClinVar |
| X | g.100407137A= | CA2447976602 | PCDH19 | c.1461T= (p.Ser487=) | |
| X | g.100407137A>C | CA414002677 | PCDH19 | c.1461T>G (p.Ser487Arg) | |
| X | g.100407137A>G | CA517748259 | PCDH19 | c.1461T>C (p.Ser487=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407137A>T | CA414002678 | PCDH19 | c.1461T>A (p.Ser487Arg) | |
| X | g.100407138C>A | CA414002681 | PCDH19 | c.1460G>T (p.Ser487Ile) | |
| X | g.100407138C>G | CA414002679 | PCDH19 | c.1460G>C (p.Ser487Thr) | |
| X | g.100407138C>T | CA414002680 | PCDH19 | c.1460G>A (p.Ser487Asn) | gnomAD v4 |
| X | g.100407139T>A | CA414002682 | PCDH19 | c.1459A>T (p.Ser487Cys) | |
| X | g.100407139T>C | CA414002683 | PCDH19 | c.1459A>G (p.Ser487Gly) | |
| X | g.100407139T>G | CA414002684 | PCDH19 | c.1459A>C (p.Ser487Arg) | |
| X | g.100407140G>A | CA517748266 | PCDH19 | c.1458C>T (p.Gly486=) | ClinVar dbSNP |
| X | g.100407140G>C | CA517748264 | PCDH19 | c.1458C>G (p.Gly486=) | |
| X | g.100407140G= | CA2447976603 | PCDH19 | c.1458C= (p.Gly486=) | |
| X | g.100407140G>T | CA517748265 | PCDH19 | c.1458C>A (p.Gly486=) | |
| X | g.100407141C>A | CA414002685 | PCDH19 | c.1457G>T (p.Gly486Val) | |
| X | g.100407141C>G | CA414002686 | PCDH19 | c.1457G>C (p.Gly486Ala) | |
| X | g.100407141C>T | CA414002687 | PCDH19 | c.1457G>A (p.Gly486Asp) | |
| X | g.100407142del | CA2695235314 | PCDH19 | c.1457del (p.Gly486AlafsTer?) | |
| X | g.100407142C>A | CA414002688 | PCDH19 | c.1456G>T (p.Gly486Cys) | |
| X | g.100407142C>G | CA414002689 | PCDH19 | c.1456G>C (p.Gly486Arg) | ClinVar gnomAD v4 |
| X | g.100407142C>T | CA414002690 | PCDH19 | c.1456G>A (p.Gly486Ser) | gnomAD v4 |
| X | g.100407143G>A | CA517748270 | PCDH19 | c.1455C>T (p.Asn485=) | ClinVar dbSNP gnomAD v4 |
| X | g.100407143G>C | CA414002691 | PCDH19 | c.1455C>G (p.Asn485Lys) | |
| X | g.100407143G>T | CA414002692 | PCDH19 | c.1455C>A (p.Asn485Lys) | |
| X | g.100407144T>A | CA414002695 | PCDH19 | c.1454A>T (p.Asn485Ile) | |
| X | g.100407144T>C | CA414002694 | PCDH19 | c.1454A>G (p.Asn485Ser) | |
| X | g.100407144T>G | CA414002693 | PCDH19 | c.1454A>C (p.Asn485Thr) | |
| X | g.100407145T>A | CA414002696 | PCDH19 | c.1453A>T (p.Asn485Tyr) | |
| X | g.100407145T>C | CA414002697 | PCDH19 | c.1453A>G (p.Asn485Asp) | |
| X | g.100407145T>G | CA414002698 | PCDH19 | c.1453A>C (p.Asn485His) | |
| X | g.100407146G>A | CA517748282 | PCDH19 | c.1452C>T (p.Leu484=) | |
| X | g.100407146G>C | CA517748279 | PCDH19 | c.1452C>G (p.Leu484=) | |
| X | g.100407146G>T | CA517748283 | PCDH19 | c.1452C>A (p.Leu484=) | |
| X | g.100407147A>C | CA414002699 | PCDH19 | c.1451T>G (p.Leu484Arg) | |
| X | g.100407147A>G | CA414002700 | PCDH19 | c.1451T>C (p.Leu484Pro) | |
| X | g.100407147A>T | CA414002701 | PCDH19 | c.1451T>A (p.Leu484His) | |
| X | g.100407148G>A | CA414002702 | PCDH19 | c.1450C>T (p.Leu484Phe) | |
| X | g.100407148G>C | CA414002703 | PCDH19 | c.1450C>G (p.Leu484Val) | |
| X | g.100407148G>T | CA414002704 | PCDH19 | c.1450C>A (p.Leu484Ile) | |
| X | g.100407149A>C | CA517748289 | PCDH19 | c.1449T>G (p.Gly483=) | |
| X | g.100407149A>G | CA517748291 | PCDH19 | c.1449T>C (p.Gly483=) | gnomAD v3 gnomAD v4 |
| X | g.100407149A>T | CA517748292 | PCDH19 | c.1449T>A (p.Gly483=) | |
| X | g.100407149_100407150delinsAC | CA2447976605 | PCDH19 | c.1448_1449delinsGT (p.Gly483=) | |
| X | g.100407149_100407156delinsACCCAGGT | CA2447976604 | PCDH19 | c.1442_1449delinsACCTGGGT (p.Asp481=) | |
| X | g.100407150C>A | CA414002705 | PCDH19 | c.1448G>T (p.Gly483Val) | |
| X | g.100407150C>G | CA414002706 | PCDH19 | c.1448G>C (p.Gly483Ala) | |
| X | g.100407150C>T | CA414002707 | PCDH19 | c.1448G>A (p.Gly483Asp) | |
| X | g.100407152del | CA915951270 | PCDH19 | c.1448del (p.Gly483ValfsTer?) | ClinVar dbSNP |
| X | g.100407151_100407157del | CA658659028 | PCDH19 | c.1442_1448del (p.Asp481ValfsTer?) | ClinVar dbSNP |
| X | g.100407151C>A | CA414002708 | PCDH19 | c.1447G>T (p.Gly483Cys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407151C= | CA2447976606 | PCDH19 | c.1447G= (p.Gly483=) | |
| X | g.100407151C>G | CA414002709 | PCDH19 | c.1447G>C (p.Gly483Arg) | |
| X | g.100407151C>T | CA10468881 | PCDH19 | c.1447G>A (p.Gly483Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407152C>A | CA517748301 | PCDH19 | c.1446G>T (p.Leu482=) | ClinVar |
| X | g.100407152C>G | CA517748302 | PCDH19 | c.1446G>C (p.Leu482=) | |
| X | g.100407152C>T | CA517748303 | PCDH19 | c.1446G>A (p.Leu482=) | |
| X | g.100407153A>C | CA414002710 | PCDH19 | c.1445T>G (p.Leu482Arg) | |
| X | g.100407153A>G | CA414002711 | PCDH19 | c.1445T>C (p.Leu482Pro) | |
| X | g.100407153A>T | CA414002712 | PCDH19 | c.1445T>A (p.Leu482Gln) | |
| X | g.100407154G>A | CA517748304 | PCDH19 | c.1444C>T (p.Leu482=) | dbSNP gnomAD v2 |
| X | g.100407154G>C | CA414002713 | PCDH19 | c.1444C>G (p.Leu482Val) | ClinVar |
| X | g.100407154G= | CA2447976607 | PCDH19 | c.1444C= (p.Leu482=) | |
| X | g.100407154G>T | CA414002714 | PCDH19 | c.1444C>A (p.Leu482Met) | |
| X | g.100407155G>A | CA517748308 | PCDH19 | c.1443C>T (p.Asp481=) | ClinVar dbSNP gnomAD v4 |
| X | g.100407155G>C | CA414002716 | PCDH19 | c.1443C>G (p.Asp481Glu) | ClinVar dbSNP |
| X | g.100407155G= | CA2447976608 | PCDH19 | c.1443C= (p.Asp481=) | |
| X | g.100407155G>T | CA414002715 | PCDH19 | c.1443C>A (p.Asp481Glu) | |
| X | g.100407156T>A | CA414002717 | PCDH19 | c.1442A>T (p.Asp481Val) | |
| X | g.100407156T>C | CA414002718 | PCDH19 | c.1442A>G (p.Asp481Gly) | ClinVar dbSNP |
| X | g.100407156T>G | CA414002719 | PCDH19 | c.1442A>C (p.Asp481Ala) | |
| X | g.100407156T= | CA2447976609 | PCDH19 | c.1442A= (p.Asp481=) | |
| X | g.100407157C>A | CA414002720 | PCDH19 | c.1441G>T (p.Asp481Tyr) | |
| X | g.100407157C>G | CA414002721 | PCDH19 | c.1441G>C (p.Asp481His) | |
| X | g.100407157C>T | CA414002722 | PCDH19 | c.1441G>A (p.Asp481Asn) | ClinVar COSMIC |
| X | g.100407158G>A | CA517748314 | PCDH19 | c.1440C>T (p.Pro480=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407158G>C | CA517748316 | PCDH19 | c.1440C>G (p.Pro480=) | gnomAD v4 |
| X | g.100407158G= | CA2447976610 | PCDH19 | c.1440C= (p.Pro480=) | |
| X | g.100407158G>T | CA517748317 | PCDH19 | c.1440C>A (p.Pro480=) | |
| X | g.100407161del | CA2573159038 | PCDH19 | c.1440del (p.Asp481ThrfsTer?) | ClinVar dbSNP |
| X | g.100407159G>A | CA414002724 | PCDH19 | c.1439C>T (p.Pro480Leu) | |
| X | g.100407159G>C | CA10468882 | PCDH19 | c.1439C>G (p.Pro480Arg) | dbSNP ExAC gnomAD v2 |
| X | g.100407159G= | CA2447976611 | PCDH19 | c.1439C= (p.Pro480=) | |
| X | g.100407159G>T | CA414002723 | PCDH19 | c.1439C>A (p.Pro480His) | |
| X | g.100407160G>A | CA414002725 | PCDH19 | c.1438C>T (p.Pro480Ser) | ClinVar dbSNP |
| X | g.100407160G>C | CA414002726 | PCDH19 | c.1438C>G (p.Pro480Ala) | |
| X | g.100407160G= | CA2447976612 | PCDH19 | c.1438C= (p.Pro480=) | |
| X | g.100407160G>T | CA10468883 | PCDH19 | c.1438C>A (p.Pro480Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407161G>A | CA517748325 | PCDH19 | c.1437C>T (p.Asp479=) | |
| X | g.100407161G>C | CA414002727 | PCDH19 | c.1437C>G (p.Asp479Glu) | |
| X | g.100407161G>T | CA414002728 | PCDH19 | c.1437C>A (p.Asp479Glu) | |
| X | g.100407162T>A | CA414002729 | PCDH19 | c.1436A>T (p.Asp479Val) | |
| X | g.100407162T>C | CA414002730 | PCDH19 | c.1436A>G (p.Asp479Gly) | |
| X | g.100407162T>G | CA414002731 | PCDH19 | c.1436A>C (p.Asp479Ala) | |
| X | g.100407163C>A | CA414002733 | PCDH19 | c.1435G>T (p.Asp479Tyr) | |
| X | g.100407163C= | CA2447976613 | PCDH19 | c.1435G= (p.Asp479=) | |
| X | g.100407163C>G | CA414002734 | PCDH19 | c.1435G>C (p.Asp479His) | |
| X | g.100407163C>T | CA16621147 | PCDH19 | c.1435G>A (p.Asp479Asn) | ClinVar dbSNP COSMIC |
| X | g.100407164G>A | CA10468884 | PCDH19 | c.1434C>T (p.Arg478=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407164G>C | CA517748347 | PCDH19 | c.1434C>G (p.Arg478=) | |
| X | g.100407164G= | CA2447976614 | PCDH19 | c.1434C= (p.Arg478=) | |
| X | g.100407164G>T | CA517748348 | PCDH19 | c.1434C>A (p.Arg478=) | |
| X | g.100407165C>A | CA414002735 | PCDH19 | c.1433G>T (p.Arg478Leu) | |
| X | g.100407165C= | CA2447976615 | PCDH19 | c.1433G= (p.Arg478=) | |
| X | g.100407165C>G | CA414002736 | PCDH19 | c.1433G>C (p.Arg478Pro) | |
| X | g.100407165C>T | CA10468885 | PCDH19 | c.1433G>A (p.Arg478His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407166G>A | CA414002739 | PCDH19 | c.1432C>T (p.Arg478Cys) | ClinVar gnomAD v4 |
| X | g.100407166G>C | CA414002738 | PCDH19 | c.1432C>G (p.Arg478Gly) | |
| X | g.100407166G= | CA2447976616 | PCDH19 | c.1432C= (p.Arg478=) | |
| X | g.100407166G>T | CA414002737 | PCDH19 | c.1432C>A (p.Arg478Ser) | dbSNP gnomAD v2 |
| X | g.100407167A>C | CA517748361 | PCDH19 | c.1431T>G (p.Ala477=) | |
| X | g.100407167A>G | CA517748362 | PCDH19 | c.1431T>C (p.Ala477=) | ClinVar |
| X | g.100407167A>T | CA517748360 | PCDH19 | c.1431T>A (p.Ala477=) | |
| X | g.100407168G>A | CA414002740 | PCDH19 | c.1430C>T (p.Ala477Val) | ClinVar |
| X | g.100407168G>C | CA414002741 | PCDH19 | c.1430C>G (p.Ala477Gly) | |
| X | g.100407168G>T | CA414002742 | PCDH19 | c.1430C>A (p.Ala477Asp) | ClinVar |
| X | g.100407169C>A | CA414002743 | PCDH19 | c.1429G>T (p.Ala477Ser) | |
| X | g.100407169C>G | CA414002744 | PCDH19 | c.1429G>C (p.Ala477Pro) | |
| X | g.100407169C>T | CA414002745 | PCDH19 | c.1429G>A (p.Ala477Thr) | |
| X | g.100407170A>C | CA517748369 | PCDH19 | c.1428T>G (p.Ser476=) | |
| X | g.100407170A>G | CA517748366 | PCDH19 | c.1428T>C (p.Ser476=) | |
| X | g.100407170A>T | CA517748368 | PCDH19 | c.1428T>A (p.Ser476=) | |
| X | g.100407171G>A | CA414002746 | PCDH19 | c.1427C>T (p.Ser476Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100407171G>C | CA414002747 | PCDH19 | c.1427C>G (p.Ser476Cys) | dbSNP gnomAD v4 |
| X | g.100407171G= | CA2447976617 | PCDH19 | c.1427C= (p.Ser476=) | |
| X | g.100407171G>T | CA414002748 | PCDH19 | c.1427C>A (p.Ser476Tyr) | |
| X | g.100407172A>C | CA414002749 | PCDH19 | c.1426T>G (p.Ser476Ala) | |
| X | g.100407172A>G | CA414002750 | PCDH19 | c.1426T>C (p.Ser476Pro) | |
| X | g.100407172A>T | CA414002751 | PCDH19 | c.1426T>A (p.Ser476Thr) | |
| X | g.100407175_100407176del | CA2580612443 | PCDH19 | c.1425_1426del (p.Ser476CysfsTer?) | ClinVar dbSNP |