| 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 |
| X | g.100407173C>A | CA517748377 | PCDH19 | c.1425G>T (p.Val475=)
| |
| X | g.100407173C>G | CA517748380 | PCDH19 | c.1425G>C (p.Val475=)
| |
| X | g.100407173C>T | CA517748379 | PCDH19 | c.1425G>A (p.Val475=)
| |
| X | g.100407174A>C | CA414002753 | PCDH19 | c.1424T>G (p.Val475Gly)
| |
| X | g.100407174A>G | CA414002754 | PCDH19 | c.1424T>C (p.Val475Ala)
| gnomAD v4 |
| X | g.100407174A>T | CA414002752 | PCDH19 | c.1424T>A (p.Val475Glu)
| |
| X | g.100407175C>A | CA414002755 | PCDH19 | c.1423G>T (p.Val475Leu)
| |
| X | g.100407175C= | CA2447976619 | PCDH19 | c.1423G= (p.Val475=)
| |
| X | g.100407175C>G | CA414002756 | PCDH19 | c.1423G>C (p.Val475Leu)
| dbSNP gnomAD v4 |
| X | g.100407175C>T | CA414002757 | PCDH19 | c.1423G>A (p.Val475Met)
| |
| X | g.100407175_100407179delinsCAGAG | CA2447976618 | PCDH19 | c.1419_1423delinsCTCTG (p.Leu473=)
| |
| X | g.100407176A= | CA2447976620 | PCDH19 | c.1422T= (p.Ser474=)
| |
| X | g.100407176A>C | CA517748388 | PCDH19 | c.1422T>G (p.Ser474=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407176A>G | CA517748390 | PCDH19 | c.1422T>C (p.Ser474=)
| |
| X | g.100407176A>T | CA517748394 | PCDH19 | c.1422T>A (p.Ser474=)
| |
| X | g.100407180_100407181del | CA2697553219 | PCDH19 | c.1421_1422del (p.Ser474CysfsTer?)
| ClinVar |
| X | g.100407178_100407181del | CA645294133 | PCDH19 | c.1419_1422del (p.Ser474CysfsTer?)
| ClinVar dbSNP |
| X | g.100407177G>A | CA414002758 | PCDH19 | c.1421C>T (p.Ser474Phe)
| |
| X | g.100407177G>C | CA414002759 | PCDH19 | c.1421C>G (p.Ser474Cys)
| |
| X | g.100407177G>T | CA414002760 | PCDH19 | c.1421C>A (p.Ser474Tyr)
| |
| X | g.100407178A>C | CA414002761 | PCDH19 | c.1420T>G (p.Ser474Ala)
| |
| X | g.100407178A>G | CA414002762 | PCDH19 | c.1420T>C (p.Ser474Pro)
| |
| X | g.100407178A>T | CA414002763 | PCDH19 | c.1420T>A (p.Ser474Thr)
| |
| X | g.100407181_100407185del | CA2499226254 | PCDH19 | c.1416_1420del (p.Leu473CysfsTer?)
| ClinVar dbSNP |
| X | g.100407179G>A | CA333826070 | PCDH19 | c.1419C>T (p.Leu473=)
| dbSNP gnomAD v4 |
| X | g.100407179G>C | CA517748404 | PCDH19 | c.1419C>G (p.Leu473=)
| |
| X | g.100407179G= | CA2447976621 | PCDH19 | c.1419C= (p.Leu473=)
| |
| X | g.100407179G>T | CA517748410 | PCDH19 | c.1419C>A (p.Leu473=)
| |
| X | g.100407180A= | CA2447976622 | PCDH19 | c.1418T= (p.Leu473=)
| |
| X | g.100407180A>C | CA414002764 | PCDH19 | c.1418T>G (p.Leu473Arg)
| |
| X | g.100407180A>G | CA10468886 | PCDH19 | c.1418T>C (p.Leu473Pro)
| dbSNP ExAC gnomAD v2 |
| X | g.100407180A>T | CA414002765 | PCDH19 | c.1418T>A (p.Leu473His)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407181G>A | CA10468887 | PCDH19 | c.1417C>T (p.Leu473Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407181G>C | CA414002766 | PCDH19 | c.1417C>G (p.Leu473Val)
| |
| X | g.100407181G= | CA2447976623 | PCDH19 | c.1417C= (p.Leu473=)
| |
| X | g.100407181G>T | CA414002767 | PCDH19 | c.1417C>A (p.Leu473Ile)
| |
| X | g.100407183_100407192del | CA2695235315 | PCDH19 | c.1408_1417del (p.Ala470SerfsTer?)
| |
| X | g.100407182C>A | CA517748417 | PCDH19 | c.1416G>T (p.Leu472=)
| |
| X | g.100407182C>G | CA517748418 | PCDH19 | c.1416G>C (p.Leu472=)
| |
| X | g.100407182C>T | CA517748419 | PCDH19 | c.1416G>A (p.Leu472=)
| |
| X | g.100407183A>C | CA414002768 | PCDH19 | c.1415T>G (p.Leu472Arg)
| |
| X | g.100407183A>G | CA414002769 | PCDH19 | c.1415T>C (p.Leu472Pro)
| |
| X | g.100407183A>T | CA414002770 | PCDH19 | c.1415T>A (p.Leu472Gln)
| |
| X | g.100407184G>A | CA517748424 | PCDH19 | c.1414C>T (p.Leu472=)
| |
| X | g.100407184G>C | CA414002771 | PCDH19 | c.1414C>G (p.Leu472Val)
| gnomAD v4 |
| X | g.100407184G>T | CA414002772 | PCDH19 | c.1414C>A (p.Leu472Met)
| |
| X | g.100407185A>C | CA414002773 | PCDH19 | c.1413T>G (p.Tyr471Ter)
| |
| X | g.100407185A>G | CA517748429 | PCDH19 | c.1413T>C (p.Tyr471=)
| |
| X | g.100407185A>T | CA414002774 | PCDH19 | c.1413T>A (p.Tyr471Ter)
| |
| X | g.100407186T>A | CA414002775 | PCDH19 | c.1412A>T (p.Tyr471Phe)
| |
| X | g.100407186T>C | CA414002776 | PCDH19 | c.1412A>G (p.Tyr471Cys)
| ClinVar gnomAD v4 |
| X | g.100407186T>G | CA414002777 | PCDH19 | c.1412A>C (p.Tyr471Ser)
| |
| X | g.100407187A= | CA2447976624 | PCDH19 | c.1411T= (p.Tyr471=)
| |
| X | g.100407187A>C | CA414002778 | PCDH19 | c.1411T>G (p.Tyr471Asp)
| |
| X | g.100407187A>G | CA10468888 | PCDH19 | c.1411T>C (p.Tyr471His)
| dbSNP ExAC gnomAD v2 |
| X | g.100407187A>T | CA414002779 | PCDH19 | c.1411T>A (p.Tyr471Asn)
| |
| X | g.100407187_100407188delinsAG | CA2447976625 | PCDH19 | c.1410_1411delinsCT (p.Ala470=)
| |
| X | g.100407188G>A | CA517748443 | PCDH19 | c.1410C>T (p.Ala470=)
| |
| X | g.100407188G>C | CA517748442 | PCDH19 | c.1410C>G (p.Ala470=)
| |
| X | g.100407188G>T | CA517748441 | PCDH19 | c.1410C>A (p.Ala470=)
| gnomAD v4 |
| X | g.100407189del | CA1139667041 | PCDH19 | c.1410del (p.Tyr471IlefsTer?)
| ClinVar dbSNP |
| X | g.100407189G>A | CA414002782 | PCDH19 | c.1409C>T (p.Ala470Val)
| dbSNP |
| X | g.100407189G>C | CA414002781 | PCDH19 | c.1409C>G (p.Ala470Gly)
| |
| X | g.100407189G>T | CA414002780 | PCDH19 | c.1409C>A (p.Ala470Asp)
| |
| X | g.100407190C>A | CA414002784 | PCDH19 | c.1408G>T (p.Ala470Ser)
| |
| X | g.100407190C>G | CA414002783 | PCDH19 | c.1408G>C (p.Ala470Pro)
| gnomAD v4 |
| X | g.100407190C>T | CA414002785 | PCDH19 | c.1408G>A (p.Ala470Thr)
| COSMIC |
| X | g.100407191G>A | CA517748460 | PCDH19 | c.1407C>T (p.Gly469=)
| COSMIC |
| X | g.100407191G>C | CA517748461 | PCDH19 | c.1407C>G (p.Gly469=)
| |
| X | g.100407191G= | CA2447976626 | PCDH19 | c.1407C= (p.Gly469=)
| |
| X | g.100407191G>T | CA16616620 | PCDH19 | c.1407C>A (p.Gly469=)
| ClinVar dbSNP |
| X | g.100407192C>A | CA414002786 | PCDH19 | c.1406G>T (p.Gly469Val)
| |
| X | g.100407192C>G | CA414002787 | PCDH19 | c.1406G>C (p.Gly469Ala)
| |
| X | g.100407192C>T | CA414002788 | PCDH19 | c.1406G>A (p.Gly469Asp)
| |
| X | g.100407193C>A | CA414002789 | PCDH19 | c.1405G>T (p.Gly469Cys)
| |
| X | g.100407193C>G | CA414002790 | PCDH19 | c.1405G>C (p.Gly469Arg)
| |
| X | g.100407193C>T | CA414002791 | PCDH19 | c.1405G>A (p.Gly469Ser)
| |
| X | g.100407193_100407199dup | CA2695235316 | PCDH19 | c.1399_1405dup (p.Gly469AspfsTer?)
| |
| X | g.100407194A= | CA2447976627 | PCDH19 | c.1404T= (p.Pro468=)
| |
| X | g.100407194A>C | CA517748480 | PCDH19 | c.1404T>G (p.Pro468=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407194A>G | CA517748486 | PCDH19 | c.1404T>C (p.Pro468=)
| |
| X | g.100407194A>T | CA517748491 | PCDH19 | c.1404T>A (p.Pro468=)
| |
| X | g.100407195G>A | CA10468889 | PCDH19 | c.1403C>T (p.Pro468Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407195G>C | CA414002792 | PCDH19 | c.1403C>G (p.Pro468Arg)
| |
| X | g.100407195G= | CA2447976628 | PCDH19 | c.1403C= (p.Pro468=)
| |
| X | g.100407195G>T | CA414002793 | PCDH19 | c.1403C>A (p.Pro468His)
| |
| X | g.100407196G>A | CA414002794 | PCDH19 | c.1402C>T (p.Pro468Ser)
| |
| X | g.100407196G>C | CA414002795 | PCDH19 | c.1402C>G (p.Pro468Ala)
| |
| X | g.100407196G>T | CA414002796 | PCDH19 | c.1402C>A (p.Pro468Thr)
| |
| X | g.100407197C>A | CA238701 | PCDH19 | c.1401G>T (p.Thr467=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407197C= | CA2447976629 | PCDH19 | c.1401G= (p.Thr467=)
| |
| X | g.100407197C>G | CA517748498 | PCDH19 | c.1401G>C (p.Thr467=)
| |
| X | g.100407197C>T | CA517748507 | PCDH19 | c.1401G>A (p.Thr467=)
| |
| X | g.100407198G>A | CA414002797 | PCDH19 | c.1400C>T (p.Thr467Met)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407198G>C | CA414002799 | PCDH19 | c.1400C>G (p.Thr467Arg)
| |
| X | g.100407198G= | CA2447976630 | PCDH19 | c.1400C= (p.Thr467=)
| |
| X | g.100407198G>T | CA414002798 | PCDH19 | c.1400C>A (p.Thr467Lys)
| |
| X | g.100407199T>A | CA414002800 | PCDH19 | c.1399A>T (p.Thr467Ser)
| |
| X | g.100407199T>C | CA414002801 | PCDH19 | c.1399A>G (p.Thr467Ala)
| |
| X | g.100407199T>G | CA414002802 | PCDH19 | c.1399A>C (p.Thr467Pro)
| |
| X | g.100407200G>A | CA517748518 | PCDH19 | c.1398C>T (p.Asn466=)
| |
| X | g.100407200G>C | CA414002803 | PCDH19 | c.1398C>G (p.Asn466Lys)
| |
| X | g.100407200G>T | CA414002804 | PCDH19 | c.1398C>A (p.Asn466Lys)
| |
| X | g.100407201T>A | CA414002805 | PCDH19 | c.1397A>T (p.Asn466Ile)
| |
| X | g.100407201T>C | CA414002806 | PCDH19 | c.1397A>G (p.Asn466Ser)
| |
| X | g.100407201T>G | CA414002807 | PCDH19 | c.1397A>C (p.Asn466Thr)
| |
| X | g.100407202T>A | CA414002808 | PCDH19 | c.1396A>T (p.Asn466Tyr)
| |
| X | g.100407202T>C | CA414002809 | PCDH19 | c.1396A>G (p.Asn466Asp)
| |
| X | g.100407202T>G | CA414002810 | PCDH19 | c.1396A>C (p.Asn466His)
| |
| X | g.100407203G>A | CA517748530 | PCDH19 | c.1395C>T (p.Asn465=)
| gnomAD v4 |
| X | g.100407203G>C | CA414002812 | PCDH19 | c.1395C>G (p.Asn465Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407203G= | CA2447976631 | PCDH19 | c.1395C= (p.Asn465=)
| |
| X | g.100407203G>T | CA414002811 | PCDH19 | c.1395C>A (p.Asn465Lys)
| |
| X | g.100407204T>A | CA414002813 | PCDH19 | c.1394A>T (p.Asn465Ile)
| |
| X | g.100407204T>C | CA414002814 | PCDH19 | c.1394A>G (p.Asn465Ser)
| |
| X | g.100407204T>G | CA414002815 | PCDH19 | c.1394A>C (p.Asn465Thr)
| |
| X | g.100407205T>A | CA414002816 | PCDH19 | c.1393A>T (p.Asn465Tyr)
| |
| X | g.100407205T>C | CA414002817 | PCDH19 | c.1393A>G (p.Asn465Asp)
| |
| X | g.100407205T>G | CA414002818 | PCDH19 | c.1393A>C (p.Asn465His)
| |
| X | g.100407206C>A | CA414002820 | PCDH19 | c.1392G>T (p.Glu464Asp)
| |
| X | g.100407206C= | CA2447976632 | PCDH19 | c.1392G= (p.Glu464=)
| |
| X | g.100407206C>G | CA10468890 | PCDH19 | c.1392G>C (p.Glu464Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407206C>T | CA517748540 | PCDH19 | c.1392G>A (p.Glu464=)
| |
| X | g.100407207T>A | CA414002821 | PCDH19 | c.1391A>T (p.Glu464Val)
| |
| X | g.100407207T>C | CA414002822 | PCDH19 | c.1391A>G (p.Glu464Gly)
| |
| X | g.100407207T>G | CA414002823 | PCDH19 | c.1391A>C (p.Glu464Ala)
| |
| X | g.100407208C>A | CA414002824 | PCDH19 | c.1390G>T (p.Glu464Ter)
| |
| X | g.100407208C>G | CA414002825 | PCDH19 | c.1390G>C (p.Glu464Gln)
| ClinVar |
| X | g.100407208C>T | CA414002826 | PCDH19 | c.1390G>A (p.Glu464Lys)
| |
| X | g.100407209C>A | CA414002827 | PCDH19 | c.1389G>T (p.Gln463His)
| |
| X | g.100407209C>G | CA414002828 | PCDH19 | c.1389G>C (p.Gln463His)
| |
| X | g.100407209C>T | CA517748548 | PCDH19 | c.1389G>A (p.Gln463=)
| |
| X | g.100407210T>A | CA414002829 | PCDH19 | c.1388A>T (p.Gln463Leu)
| |
| X | g.100407210T>C | CA414002830 | PCDH19 | c.1388A>G (p.Gln463Arg)
| dbSNP gnomAD v4 |
| X | g.100407210T>G | CA414002831 | PCDH19 | c.1388A>C (p.Gln463Pro)
| |
| X | g.100407210T= | CA2447976633 | PCDH19 | c.1388A= (p.Gln463=)
| |
| X | g.100407211G>A | CA414002832 | PCDH19 | c.1387C>T (p.Gln463Ter)
| ClinVar |
| X | g.100407211G>C | CA414002833 | PCDH19 | c.1387C>G (p.Gln463Glu)
| |
| X | g.100407211G>T | CA414002834 | PCDH19 | c.1387C>A (p.Gln463Lys)
| |
| X | g.100407212C>A | CA517748563 | PCDH19 | c.1386G>T (p.Val462=)
| |
| X | g.100407212C>G | CA517748558 | PCDH19 | c.1386G>C (p.Val462=)
| |
| X | g.100407212C>T | CA517748560 | PCDH19 | c.1386G>A (p.Val462=)
| |
| X | g.100407213A>C | CA414002835 | PCDH19 | c.1385T>G (p.Val462Gly)
| |
| X | g.100407213A>G | CA414002836 | PCDH19 | c.1385T>C (p.Val462Ala)
| |
| X | g.100407213A>T | CA414002837 | PCDH19 | c.1385T>A (p.Val462Glu)
| |
| X | g.100407214C>A | CA414002838 | PCDH19 | c.1384G>T (p.Val462Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407214C= | CA2447976634 | PCDH19 | c.1384G= (p.Val462=)
| |
| X | g.100407214C>G | CA414002839 | PCDH19 | c.1384G>C (p.Val462Leu)
| |
| X | g.100407214C>T | CA10468891 | PCDH19 | c.1384G>A (p.Val462Met)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407215A= | CA2447976635 | PCDH19 | c.1383T= (p.Ile461=)
| |
| X | g.100407215A>C | CA414002840 | PCDH19 | c.1383T>G (p.Ile461Met)
| |
| X | g.100407215A>G | CA517748576 | PCDH19 | c.1383T>C (p.Ile461=)
| |
| X | g.100407215A>T | CA517748573 | PCDH19 | c.1383T>A (p.Ile461=)
| dbSNP |
| X | g.100407216A= | CA2447976636 | PCDH19 | c.1382T= (p.Ile461=)
| |
| X | g.100407216A>C | CA414002842 | PCDH19 | c.1382T>G (p.Ile461Ser)
| |
| X | g.100407216A>G | CA316354 | PCDH19 | c.1382T>C (p.Ile461Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407216A>T | CA414002841 | PCDH19 | c.1382T>A (p.Ile461Asn)
| |
| X | g.100407217T>A | CA414002843 | PCDH19 | c.1381A>T (p.Ile461Phe)
| dbSNP |
| X | g.100407217T>C | CA414002844 | PCDH19 | c.1381A>G (p.Ile461Val)
| |
| X | g.100407217T>G | CA414002845 | PCDH19 | c.1381A>C (p.Ile461Leu)
| |
| X | g.100407217T= | CA2447976637 | PCDH19 | c.1381A= (p.Ile461=)
| |
| X | g.100407218G>A | CA517748589 | PCDH19 | c.1380C>T (p.Val460=)
| |
| X | g.100407218G>C | CA517748591 | PCDH19 | c.1380C>G (p.Val460=)
| dbSNP gnomAD v4 |
| X | g.100407218G= | CA2447976638 | PCDH19 | c.1380C= (p.Val460=)
| |
| X | g.100407218G>T | CA517748593 | PCDH19 | c.1380C>A (p.Val460=)
| |
| X | g.100407219A>C | CA414002846 | PCDH19 | c.1379T>G (p.Val460Gly)
| |
| X | g.100407219A>G | CA414002847 | PCDH19 | c.1379T>C (p.Val460Ala)
| |
| X | g.100407219A>T | CA414002848 | PCDH19 | c.1379T>A (p.Val460Asp)
| |
| X | g.100407220C>A | CA414002851 | PCDH19 | c.1378G>T (p.Val460Phe)
| |
| X | g.100407220C>G | CA414002850 | PCDH19 | c.1378G>C (p.Val460Leu)
| |
| X | g.100407220C>T | CA414002849 | PCDH19 | c.1378G>A (p.Val460Ile)
| gnomAD v4 |
| X | g.100407221C>A | CA414002854 | PCDH19 | c.1377G>T (p.Gln459His)
| |
| X | g.100407221C>G | CA414002855 | PCDH19 | c.1377G>C (p.Gln459His)
| |
| X | g.100407221C>T | CA517748603 | PCDH19 | c.1377G>A (p.Gln459=)
| |
| X | g.100407221_100407222delinsCT | CA2447976639 | PCDH19 | c.1376_1377delinsAG (p.Gln459=)
| |
| X | g.100407221_100407222insCTCAACAT | CA2573159039 | PCDH19 | c.1376_1377insATGTTGAG (p.Val460CysfsTer2)
| ClinVar dbSNP |
| X | g.100407222del | CA316402 | PCDH19 | c.1376del (p.Gln459ArgfsTer?)
| ClinVar dbSNP |
| X | g.100407222T>A | CA414002856 | PCDH19 | c.1376A>T (p.Gln459Leu)
| |
| X | g.100407222T>C | CA414002857 | PCDH19 | c.1376A>G (p.Gln459Arg)
| gnomAD v4 |
| X | g.100407222T>G | CA414002858 | PCDH19 | c.1376A>C (p.Gln459Pro)
| |
| X | g.100407223G>A | CA414002861 | PCDH19 | c.1375C>T (p.Gln459Ter)
| ClinVar dbSNP COSMIC |
| X | g.100407223G>C | CA414002859 | PCDH19 | c.1375C>G (p.Gln459Glu)
| |
| X | g.100407223G>T | CA414002860 | PCDH19 | c.1375C>A (p.Gln459Lys)
| |
| X | g.100407224del | CA2580100028 | PCDH19 | c.1375del (p.Gln459ArgfsTer?)
| ClinVar |
| X | g.100407224G>A | CA517748611 | PCDH19 | c.1374C>T (p.Tyr458=)
| |
| X | g.100407224G>C | CA414002862 | PCDH19 | c.1374C>G (p.Tyr458Ter)
| |
| X | g.100407224G>T | CA414002863 | PCDH19 | c.1374C>A (p.Tyr458Ter)
| |
