| X | g.100408084C>A | CA414009463 | PCDH19 | c.514G>T (p.Glu172Ter)
| ClinVar dbSNP |
| X | g.100408084C= | CA2447977013 | PCDH19 | c.514G= (p.Glu172=)
| |
| X | g.100408084C>G | CA414009461 | PCDH19 | c.514G>C (p.Glu172Gln)
| |
| X | g.100408084C>T | CA414009462 | PCDH19 | c.514G>A (p.Glu172Lys)
| |
| X | g.100408084dup | CA2695234736 | PCDH19 | c.514dup (p.Glu172GlyfsTer?)
| |
| X | g.100408084_100408108delinsCGTTGGGCGTGAGCTCGTAAGTCTG | CA2447977014 | PCDH19 | c.490_514delinsCAGACTTACGAGCTCACGCCCAACG (p.Gln164=)
| |
| X | g.100408085G>A | CA316236 | PCDH19 | c.513C>T (p.Asn171=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408085G>C | CA414009465 | PCDH19 | c.513C>G (p.Asn171Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100408085G= | CA2447977015 | PCDH19 | c.513C= (p.Asn171=)
| |
| X | g.100408085G>T | CA414009464 | PCDH19 | c.513C>A (p.Asn171Lys)
| gnomAD v4 |
| X | g.100408085_100408108del | CA1139667695 | PCDH19 | c.490_513del (p.Gln164_Asn171del)
| ClinVar dbSNP |
| X | g.100408086T>A | CA414009466 | PCDH19 | c.512A>T (p.Asn171Ile)
| |
| X | g.100408086T>C | CA10468986 | PCDH19 | c.512A>G (p.Asn171Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408086T>G | CA414009467 | PCDH19 | c.512A>C (p.Asn171Thr)
| dbSNP |
| X | g.100408086T= | CA2447977016 | PCDH19 | c.512A= (p.Asn171=)
| |
| X | g.100408087dup | CA2580100080 | PCDH19 | c.512dup (p.Asn171LysfsTer?)
| ClinVar |
| X | g.100408087T>A | CA414009468 | PCDH19 | c.511A>T (p.Asn171Tyr)
| |
| X | g.100408087T>C | CA414009469 | PCDH19 | c.511A>G (p.Asn171Asp)
| COSMIC |
| X | g.100408087T>G | CA414009470 | PCDH19 | c.511A>C (p.Asn171His)
| |
| X | g.100408088G>A | CA517748487 | PCDH19 | c.510C>T (p.Pro170=)
| dbSNP |
| X | g.100408088G>C | CA517748489 | PCDH19 | c.510C>G (p.Pro170=)
| |
| X | g.100408088G= | CA2447977017 | PCDH19 | c.510C= (p.Pro170=)
| |
| X | g.100408088G>T | CA517748490 | PCDH19 | c.510C>A (p.Pro170=)
| |
| X | g.100408089G>A | CA414009471 | PCDH19 | c.509C>T (p.Pro170Leu)
| |
| X | g.100408089G>C | CA414009472 | PCDH19 | c.509C>G (p.Pro170Arg)
| |
| X | g.100408089G>T | CA414009473 | PCDH19 | c.509C>A (p.Pro170His)
| |
| X | g.100408090G>A | CA414009474 | PCDH19 | c.508C>T (p.Pro170Ser)
| |
| X | g.100408090G>C | CA414009475 | PCDH19 | c.508C>G (p.Pro170Ala)
| |
| X | g.100408090G>T | CA414009476 | PCDH19 | c.508C>A (p.Pro170Thr)
| gnomAD v4 |
| X | g.100408091C>A | CA517748504 | PCDH19 | c.507G>T (p.Thr169=)
| |
| X | g.100408091C= | CA2447977018 | PCDH19 | c.507G= (p.Thr169=)
| |
| X | g.100408091C>G | CA517748508 | PCDH19 | c.507G>C (p.Thr169=)
| |
| X | g.100408091C>T | CA517748510 | PCDH19 | c.507G>A (p.Thr169=)
| dbSNP gnomAD v2 |
| X | g.100408092del | CA913187337 | PCDH19 | c.506del (p.Thr169SerfsTer?)
| ClinVar dbSNP |
| X | g.100408092G>A | CA414009477 | PCDH19 | c.506C>T (p.Thr169Met)
| |
| X | g.100408092G>C | CA414009478 | PCDH19 | c.506C>G (p.Thr169Arg)
| gnomAD v4 |
| X | g.100408092G>T | CA414009479 | PCDH19 | c.506C>A (p.Thr169Lys)
| gnomAD v4 |
| X | g.100408093T>A | CA414009482 | PCDH19 | c.505A>T (p.Thr169Ser)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408093T>C | CA414009480 | PCDH19 | c.505A>G (p.Thr169Ala)
| |
| X | g.100408093T>G | CA414009481 | PCDH19 | c.505A>C (p.Thr169Pro)
| |
| X | g.100408093T= | CA2447977019 | PCDH19 | c.505A= (p.Thr169=)
| |
| X | g.100408094G>A | CA517748515 | PCDH19 | c.504C>T (p.Leu168=)
| gnomAD v4 |
| X | g.100408094G>C | CA517748521 | PCDH19 | c.504C>G (p.Leu168=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408094G= | CA2447977020 | PCDH19 | c.504C= (p.Leu168=)
| |
| X | g.100408094G>T | CA517748523 | PCDH19 | c.504C>A (p.Leu168=)
| |
| X | g.100408095A>C | CA414009483 | PCDH19 | c.503T>G (p.Leu168Arg)
| |
| X | g.100408095A>G | CA414009484 | PCDH19 | c.503T>C (p.Leu168Pro)
| |
| X | g.100408095A>T | CA414009485 | PCDH19 | c.503T>A (p.Leu168His)
| |
| X | g.100408096G>A | CA414009486 | PCDH19 | c.502C>T (p.Leu168Phe)
| |
| X | g.100408096G>C | CA414009487 | PCDH19 | c.502C>G (p.Leu168Val)
| |
| X | g.100408096G>T | CA414009488 | PCDH19 | c.502C>A (p.Leu168Ile)
| |
| X | g.100408097C>A | CA414009489 | PCDH19 | c.501G>T (p.Glu167Asp)
| |
| X | g.100408097C= | CA2447977021 | PCDH19 | c.501G= (p.Glu167=)
| |
| X | g.100408097C>G | CA414009490 | PCDH19 | c.501G>C (p.Glu167Asp)
| |
| X | g.100408097C>T | CA517748538 | PCDH19 | c.501G>A (p.Glu167=)
| dbSNP gnomAD v4 |
| X | g.100408098T>A | CA414009491 | PCDH19 | c.500A>T (p.Glu167Val)
| |
| X | g.100408098T>C | CA414009492 | PCDH19 | c.500A>G (p.Glu167Gly)
| |
| X | g.100408098T>G | CA414009493 | PCDH19 | c.500A>C (p.Glu167Ala)
| |
| X | g.100408099C>A | CA414009496 | PCDH19 | c.499G>T (p.Glu167Ter)
| ClinVar dbSNP |
| X | g.100408099C= | CA2447977022 | PCDH19 | c.499G= (p.Glu167=)
| |
| X | g.100408099C>G | CA414009495 | PCDH19 | c.499G>C (p.Glu167Gln)
| gnomAD v4 COSMIC |
| X | g.100408099C>T | CA414009494 | PCDH19 | c.499G>A (p.Glu167Lys)
| |
| X | g.100408100del | CA2499226260 | PCDH19 | c.498del (p.Tyr166Ter)
| ClinVar dbSNP |
| X | g.100408100G>A | CA517748542 | PCDH19 | c.498C>T (p.Tyr166=)
| |
| X | g.100408100G>C | CA316409 | PCDH19 | c.498C>G (p.Tyr166Ter)
| ClinVar dbSNP |
| X | g.100408100G= | CA2447977023 | PCDH19 | c.498C= (p.Tyr166=)
| |
| X | g.100408100G>T | CA414009497 | PCDH19 | c.498C>A (p.Tyr166Ter)
| ClinVar dbSNP |
| X | g.100408100_100408102delinsTTT | CA2695234737 | PCDH19 | c.496_498delinsAAA (p.Tyr166Lys)
| |
| X | g.100408101T>A | CA172959 | PCDH19 | c.497A>T (p.Tyr166Phe)
| ClinVar dbSNP |
| X | g.100408101T>C | CA414009498 | PCDH19 | c.497A>G (p.Tyr166Cys)
| |
| X | g.100408101T>G | CA414009499 | PCDH19 | c.497A>C (p.Tyr166Ser)
| |
| X | g.100408101T= | CA2447977024 | PCDH19 | c.497A= (p.Tyr166=)
| |
| X | g.100408101dup | CA10468987 | PCDH19 | c.497dup (p.Tyr166Ter)
| dbSNP ExAC gnomAD v2 |
| X | g.100408102A>C | CA414009500 | PCDH19 | c.496T>G (p.Tyr166Asp)
| ClinVar |
| X | g.100408102A>G | CA414009501 | PCDH19 | c.496T>C (p.Tyr166His)
| |
| X | g.100408102A>T | CA414009502 | PCDH19 | c.496T>A (p.Tyr166Asn)
| |
| X | g.100408102_100408103insTTT | CA2573332651 | PCDH19 | c.495_496insAAA (p.Thr165_Tyr166insLys)
| |
| X | g.100408103A>C | CA517748553 | PCDH19 | c.495T>G (p.Thr165=)
| |
| X | g.100408103A>G | CA517748552 | PCDH19 | c.495T>C (p.Thr165=)
| |
| X | g.100408103A>T | CA517748550 | PCDH19 | c.495T>A (p.Thr165=)
| |
| X | g.100408104G>A | CA414009503 | PCDH19 | c.494C>T (p.Thr165Ile)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408104G>C | CA414009504 | PCDH19 | c.494C>G (p.Thr165Ser)
| |
| X | g.100408104G= | CA2447977025 | PCDH19 | c.494C= (p.Thr165=)
| |
| X | g.100408104G>T | CA414009505 | PCDH19 | c.494C>A (p.Thr165Asn)
| |
| X | g.100408105T>A | CA414009506 | PCDH19 | c.493A>T (p.Thr165Ser)
| |
| X | g.100408105T>C | CA414009507 | PCDH19 | c.493A>G (p.Thr165Ala)
| COSMIC |
| X | g.100408105T>G | CA414009508 | PCDH19 | c.493A>C (p.Thr165Pro)
| ClinVar dbSNP |
| X | g.100408106C>A | CA414009509 | PCDH19 | c.492G>T (p.Gln164His)
| |
| X | g.100408106C>G | CA414009510 | PCDH19 | c.492G>C (p.Gln164His)
| |
| X | g.100408106C>T | CA517748564 | PCDH19 | c.492G>A (p.Gln164=)
| |
| X | g.100408107T>A | CA414009511 | PCDH19 | c.491A>T (p.Gln164Leu)
| |
| X | g.100408107T>C | CA414009512 | PCDH19 | c.491A>G (p.Gln164Arg)
| |
| X | g.100408107T>G | CA414009513 | PCDH19 | c.491A>C (p.Gln164Pro)
| |
| X | g.100408107T= | CA2447977026 | PCDH19 | c.491A= (p.Gln164=)
| |
| X | g.100408108G>A | CA207186 | PCDH19 | c.490C>T (p.Gln164Ter)
| ClinVar dbSNP |
| X | g.100408108G>C | CA414009514 | PCDH19 | c.490C>G (p.Gln164Glu)
| |
| X | g.100408108G= | CA2447977027 | PCDH19 | c.490C= (p.Gln164=)
| |
| X | g.100408108G>T | CA414009515 | PCDH19 | c.490C>A (p.Gln164Lys)
| gnomAD v4 COSMIC |
| X | g.100408108dup | CA658824277 | PCDH19 | c.490dup (p.Gln164ProfsTer?)
| ClinVar dbSNP |
| X | g.100408108_100408109delinsAT | CA658824276 | PCDH19 | c.489_490delinsAT (p.Val164Ter)
| ClinVar dbSNP |
| X | g.100408108_100408109delinsGC | CA2447977028 | PCDH19 | c.489_490delinsGC (p.Val163=)
| |
| X | g.100408109C>A | CA517748574 | PCDH19 | c.489G>T (p.Val163=)
| COSMIC |
| X | g.100408109C>G | CA517748577 | PCDH19 | c.489G>C (p.Val163=)
| |
| X | g.100408109C>T | CA517748580 | PCDH19 | c.489G>A (p.Val163=)
| gnomAD v4 |
| X | g.100408110A>C | CA414009516 | PCDH19 | c.488T>G (p.Val163Gly)
| |
| X | g.100408110A>G | CA414009517 | PCDH19 | c.488T>C (p.Val163Ala)
| |
| X | g.100408110A>T | CA414009518 | PCDH19 | c.488T>A (p.Val163Glu)
| |
| X | g.100408111C>A | CA414009519 | PCDH19 | c.487G>T (p.Val163Leu)
| |
| X | g.100408111C>G | CA414009520 | PCDH19 | c.487G>C (p.Val163Leu)
| |
| X | g.100408111C>T | CA414009521 | PCDH19 | c.487G>A (p.Val163Met)
| ClinVar COSMIC |
| X | g.100408112G>A | CA517748584 | PCDH19 | c.486C>T (p.Gly162=)
| |
| X | g.100408112G>C | CA517748586 | PCDH19 | c.486C>G (p.Gly162=)
| |
| X | g.100408112G>T | CA517748588 | PCDH19 | c.486C>A (p.Gly162=)
| |
| X | g.100408113C>A | CA414009523 | PCDH19 | c.485G>T (p.Gly162Val)
| |
| X | g.100408113C= | CA2447977029 | PCDH19 | c.485G= (p.Gly162=)
| |
| X | g.100408113C>G | CA414009524 | PCDH19 | c.485G>C (p.Gly162Ala)
| |
| X | g.100408113C>T | CA414009522 | PCDH19 | c.485G>A (p.Gly162Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408114C>A | CA414009525 | PCDH19 | c.484G>T (p.Gly162Cys)
| COSMIC |
| X | g.100408114C>G | CA414009527 | PCDH19 | c.484G>C (p.Gly162Arg)
| |
| X | g.100408114C>T | CA414009526 | PCDH19 | c.484G>A (p.Gly162Ser)
| |
| X | g.100408115A= | CA2447977030 | PCDH19 | c.483T= (p.Phe161=)
| |
| X | g.100408115A>C | CA414009528 | PCDH19 | c.483T>G (p.Phe161Leu)
| |
| X | g.100408115A>G | CA517748601 | PCDH19 | c.483T>C (p.Phe161=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408115A>T | CA414009529 | PCDH19 | c.483T>A (p.Phe161Leu)
| |
| X | g.100408116A= | CA2447977031 | PCDH19 | c.482T= (p.Phe161=)
| |
| X | g.100408116A>C | CA414009530 | PCDH19 | c.482T>G (p.Phe161Cys)
| |
| X | g.100408116A>G | CA10468988 | PCDH19 | c.482T>C (p.Phe161Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408116A>T | CA414009531 | PCDH19 | c.482T>A (p.Phe161Tyr)
| |
| X | g.100408117A>C | CA414009532 | PCDH19 | c.481T>G (p.Phe161Val)
| |
| X | g.100408117A>G | CA414009533 | PCDH19 | c.481T>C (p.Phe161Leu)
| |
| X | g.100408117A>T | CA414009534 | PCDH19 | c.481T>A (p.Phe161Ile)
| |
| X | g.100408118G>A | CA517748613 | PCDH19 | c.480C>T (p.Ser160=)
| |
| X | g.100408118G>C | CA414009535 | PCDH19 | c.480C>G (p.Ser160Arg)
| |
| X | g.100408118G>T | CA414009536 | PCDH19 | c.480C>A (p.Ser160Arg)
| |
| X | g.100408119C>A | CA414009537 | PCDH19 | c.479G>T (p.Ser160Ile)
| |
| X | g.100408119C= | CA2447977032 | PCDH19 | c.479G= (p.Ser160=)
| |
| X | g.100408119C>G | CA414009538 | PCDH19 | c.479G>C (p.Ser160Thr)
| |
| X | g.100408119C>T | CA238708 | PCDH19 | c.479G>A (p.Ser160Asn)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408120T>A | CA414009539 | PCDH19 | c.478A>T (p.Ser160Cys)
| |
| X | g.100408120T>C | CA414009541 | PCDH19 | c.478A>G (p.Ser160Gly)
| gnomAD v4 |
| X | g.100408120T>G | CA414009540 | PCDH19 | c.478A>C (p.Ser160Arg)
| |
| X | g.100408121del | CA2739273665 | PCDH19 | c.478del (p.Ser160AlafsTer?)
| ClinVar |
| X | g.100408121T>A | CA517748624 | PCDH19 | c.477A>T (p.Gly159=)
| |
| X | g.100408121T>C | CA517748625 | PCDH19 | c.477A>G (p.Gly159=)
| gnomAD v4 |
| X | g.100408121T>G | CA517748623 | PCDH19 | c.477A>C (p.Gly159=)
| dbSNP |
| X | g.100408121T= | CA2447977033 | PCDH19 | c.477A= (p.Gly159=)
| |
| X | g.100408121_100408122delinsTC | CA2447977034 | PCDH19 | c.476_477delinsGA (p.Gly159=)
| |
| X | g.100408122C>A | CA414009542 | PCDH19 | c.476G>T (p.Gly159Val)
| gnomAD v4 |
| X | g.100408122C>G | CA414009543 | PCDH19 | c.476G>C (p.Gly159Ala)
| |
| X | g.100408122C>T | CA414009544 | PCDH19 | c.476G>A (p.Gly159Glu)
| |
| X | g.100408123del | CA1139667696 | PCDH19 | c.476del (p.Gly159GlufsTer?)
| ClinVar dbSNP |
| X | g.100408123C>A | CA414009545 | PCDH19 | c.475G>T (p.Gly159Ter)
| |
| X | g.100408123C>G | CA414009546 | PCDH19 | c.475G>C (p.Gly159Arg)
| ClinVar gnomAD v4 |
| X | g.100408123C>T | CA414009547 | PCDH19 | c.475G>A (p.Gly159Arg)
| ClinVar dbSNP |
| X | g.100408124T>A | CA517748628 | PCDH19 | c.474A>T (p.Ser158=)
| gnomAD v4 |
| X | g.100408124T>C | CA517748630 | PCDH19 | c.474A>G (p.Ser158=)
| ClinVar gnomAD v4 |
| X | g.100408124T>G | CA517748632 | PCDH19 | c.474A>C (p.Ser158=)
| |
| X | g.100408125G>A | CA414009548 | PCDH19 | c.473C>T (p.Ser158Leu)
| |
| X | g.100408125G>C | CA316301 | PCDH19 | c.473C>G (p.Ser158Ter)
| ClinVar dbSNP |
| X | g.100408125G= | CA2447977035 | PCDH19 | c.473C= (p.Ser158=)
| |
| X | g.100408125G>T | CA414009549 | PCDH19 | c.473C>A (p.Ser158Ter)
| |
| X | g.100408126A= | CA2447977036 | PCDH19 | c.472T= (p.Ser158=)
| |
| X | g.100408126A>C | CA414009552 | PCDH19 | c.472T>G (p.Ser158Ala)
| |
| X | g.100408126A>G | CA414009551 | PCDH19 | c.472T>C (p.Ser158Pro)
| |
| X | g.100408126A>T | CA414009550 | PCDH19 | c.472T>A (p.Ser158Thr)
| |
| X | g.100408127G>A | CA517748649 | PCDH19 | c.471C>T (p.Asp157=)
| |
| X | g.100408127G>C | CA414009554 | PCDH19 | c.471C>G (p.Asp157Glu)
| |
| X | g.100408127G>T | CA414009556 | PCDH19 | c.471C>A (p.Asp157Glu)
| gnomAD v4 |
| X | g.100408127dup | CA916083985 | PCDH19 | c.471dup (p.Ser158LeufsTer?)
| ClinVar dbSNP |
| X | g.100408128T>A | CA414009558 | PCDH19 | c.470A>T (p.Asp157Val)
| |
| X | g.100408128T>C | CA414009559 | PCDH19 | c.470A>G (p.Asp157Gly)
| gnomAD v4 |
| X | g.100408128T>G | CA414009562 | PCDH19 | c.470A>C (p.Asp157Ala)
| ClinVar dbSNP |
| X | g.100408128T= | CA2447977037 | PCDH19 | c.470A= (p.Asp157=)
| |
| X | g.100408129C>A | CA414009564 | PCDH19 | c.469G>T (p.Asp157Tyr)
| |
| X | g.100408129C>G | CA414009565 | PCDH19 | c.469G>C (p.Asp157His)
| |
| X | g.100408129C>T | CA414009567 | PCDH19 | c.469G>A (p.Asp157Asn)
| |
| X | g.100408130T>A | CA517748659 | PCDH19 | c.468A>T (p.Pro156=)
| |
| X | g.100408130T>C | CA517748665 | PCDH19 | c.468A>G (p.Pro156=)
| |
| X | g.100408130T>G | CA517748666 | PCDH19 | c.468A>C (p.Pro156=)
| |
| X | g.100408131G>A | CA414009569 | PCDH19 | c.467C>T (p.Pro156Leu)
| |
| X | g.100408131G>C | CA414009571 | PCDH19 | c.467C>G (p.Pro156Arg)
| |
| X | g.100408131G>T | CA414009573 | PCDH19 | c.467C>A (p.Pro156Gln)
| |
| X | g.100408132G>A | CA414009579 | PCDH19 | c.466C>T (p.Pro156Ser)
| |
| X | g.100408132G>C | CA414009577 | PCDH19 | c.466C>G (p.Pro156Ala)
| COSMIC |
| X | g.100408132G>T | CA414009575 | PCDH19 | c.466C>A (p.Pro156Thr)
| |
| X | g.100408133A>C | CA414009581 | PCDH19 | c.465T>G (p.Asp155Glu)
| |
| X | g.100408133A>G | CA517748676 | PCDH19 | c.465T>C (p.Asp155=)
| |
| X | g.100408133A>T | CA414009582 | PCDH19 | c.465T>A (p.Asp155Glu)
| |
| X | g.100408134T>A | CA414009585 | PCDH19 | c.464A>T (p.Asp155Val)
| |
| X | g.100408134T>C | CA414009586 | PCDH19 | c.464A>G (p.Asp155Gly)
| |
| X | g.100408134T>G | CA414009588 | PCDH19 | c.464A>C (p.Asp155Ala)
| |
| X | g.100408135C>A | CA414009590 | PCDH19 | c.463G>T (p.Asp155Tyr)
| |
| X | g.100408135C= | CA2447977038 | PCDH19 | c.463G= (p.Asp155=)
| |
| X | g.100408135C>G | CA414009592 | PCDH19 | c.463G>C (p.Asp155His)
| ClinVar dbSNP |
| X | g.100408135C>T | CA316298 | PCDH19 | c.463G>A (p.Asp155Asn)
| ClinVar dbSNP COSMIC |
| X | g.100408136G>A | CA517748694 | PCDH19 | c.462C>T (p.Tyr154=)
| gnomAD v4 |
| X | g.100408136G>C | CA414009595 | PCDH19 | c.462C>G (p.Tyr154Ter)
| ClinVar dbSNP |
| X | g.100408136G= | CA2447977039 | PCDH19 | c.462C= (p.Tyr154=)
| |
| X | g.100408136G>T | CA414009597 | PCDH19 | c.462C>A (p.Tyr154Ter)
| ClinVar |
| X | g.100408137T>A | CA414009600 | PCDH19 | c.461A>T (p.Tyr154Phe)
| |
| X | g.100408137T>C | CA414009602 | PCDH19 | c.461A>G (p.Tyr154Cys)
| |
| X | g.100408137T>G | CA414009604 | PCDH19 | c.461A>C (p.Tyr154Ser)
| |
| X | g.100408137dup | CA643538113 | PCDH19 | c.461dup (p.Tyr154Ter)
| dbSNP gnomAD v2 |
| X | g.100408138A= | CA2447977040 | PCDH19 | c.460T= (p.Tyr154=)
| |
| X | g.100408138A>C | CA414009610 | PCDH19 | c.460T>G (p.Tyr154Asp)
| |
| X | g.100408138A>G | CA414009608 | PCDH19 | c.460T>C (p.Tyr154His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408138A>T | CA414009606 | PCDH19 | c.460T>A (p.Tyr154Asn)
| |
| X | g.100408139A= | CA2447977041 | PCDH19 | c.459T= (p.Ala153=)
| |
| X | g.100408139A>C | CA517748700 | PCDH19 | c.459T>G (p.Ala153=)
| |
| X | g.100408139A>G | CA517748702 | PCDH19 | c.459T>C (p.Ala153=)
| dbSNP gnomAD v4 |
| X | g.100408139A>T | CA517748704 | PCDH19 | c.459T>A (p.Ala153=)
| |
| X | g.100408140G>A | CA414009614 | PCDH19 | c.458C>T (p.Ala153Val)
| |
| X | g.100408140G>C | CA414009612 | PCDH19 | c.458C>G (p.Ala153Gly)
| |
| X | g.100408140G>T | CA414009617 | PCDH19 | c.458C>A (p.Ala153Asp)
| |
| X | g.100408140_100408141delinsAT | CA278967 | PCDH19 | c.457_458delinsAT (p.Ala153Ile)
| ClinVar dbSNP |
| X | g.100408140_100408141delinsGC | CA2447977042 | PCDH19 | c.457_458delinsGC (p.Ala153=)
| |
| X | g.100408141C>A | CA414009619 | PCDH19 | c.457G>T (p.Ala153Ser)
| |
| X | g.100408141C>G | CA414009622 | PCDH19 | c.457G>C (p.Ala153Pro)
| |
| X | g.100408141C>T | CA414009621 | PCDH19 | c.457G>A (p.Ala153Thr)
| |
| X | g.100408142G>A | CA10468989 | PCDH19 | c.456C>T (p.Ser152=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408142G>C | CA414009625 | PCDH19 | c.456C>G (p.Ser152Arg)
| gnomAD v4 |
| X | g.100408142G= | CA2447977043 | PCDH19 | c.456C= (p.Ser152=)
| |
| X | g.100408142G>T | CA414009627 | PCDH19 | c.456C>A (p.Ser152Arg)
| |
| X | g.100408143C>A | CA414009629 | PCDH19 | c.455G>T (p.Ser152Ile)
| |
| X | g.100408143C>G | CA414009631 | PCDH19 | c.455G>C (p.Ser152Thr)
| |
| X | g.100408143C>T | CA414009633 | PCDH19 | c.455G>A (p.Ser152Asn)
| |
| X | g.100408144T>A | CA414009635 | PCDH19 | c.454A>T (p.Ser152Cys)
| |
| X | g.100408144T>C | CA414009636 | PCDH19 | c.454A>G (p.Ser152Gly)
| |
| X | g.100408144T>G | CA414009638 | PCDH19 | c.454A>C (p.Ser152Arg)
| |
| X | g.100408145G>A | CA517748724 | PCDH19 | c.453C>T (p.Asp151=)
| |
| X | g.100408145G>C | CA414009641 | PCDH19 | c.453C>G (p.Asp151Glu)
| |
| X | g.100408145G>T | CA414009642 | PCDH19 | c.453C>A (p.Asp151Glu)
| gnomAD v4 |
| X | g.100408146T>A | CA414009648 | PCDH19 | c.452A>T (p.Asp151Val)
| |
| X | g.100408146T>C | CA414009646 | PCDH19 | c.452A>G (p.Asp151Gly)
| |
| X | g.100408146T>G | CA414009645 | PCDH19 | c.452A>C (p.Asp151Ala)
| |
| X | g.100408147C>A | CA414009651 | PCDH19 | c.451G>T (p.Asp151Tyr)
| |
| X | g.100408147C>G | CA414009652 | PCDH19 | c.451G>C (p.Asp151His)
| gnomAD v4 |
| X | g.100408147C>T | CA414009654 | PCDH19 | c.451G>A (p.Asp151Asn)
| |
| X | g.100408148C>A | CA517748728 | PCDH19 | c.450G>T (p.Leu150=)
| |
| X | g.100408148C>G | CA517748730 | PCDH19 | c.450G>C (p.Leu150=)
| |
| X | g.100408148C>T | CA517748736 | PCDH19 | c.450G>A (p.Leu150=)
| |
| X | g.100408148_100408153dup | CA2695234738 | PCDH19 | c.445_450dup (p.Leu150_Asp151insProLeu)
| |
| X | g.100408149A>C | CA414009656 | PCDH19 | c.449T>G (p.Leu150Arg)
| |
| X | g.100408149A>G | CA414009658 | PCDH19 | c.449T>C (p.Leu150Pro)
| COSMIC |
| X | g.100408149A>T | CA414009660 | PCDH19 | c.449T>A (p.Leu150Gln)
| |
| X | g.100408150G>A | CA517748739 | PCDH19 | c.448C>T (p.Leu150=)
| |
| X | g.100408150G>C | CA414009661 | PCDH19 | c.448C>G (p.Leu150Val)
| |
| X | g.100408150G>T | CA414009662 | PCDH19 | c.448C>A (p.Leu150Met)
| |
| X | g.100408151C>A | CA517748747 | PCDH19 | c.447G>T (p.Pro149=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408151C= | CA2447977044 | PCDH19 | c.447G= (p.Pro149=)
| |
| X | g.100408151C>G | CA517748752 | PCDH19 | c.447G>C (p.Pro149=)
| |
| X | g.100408151C>T | CA517748744 | PCDH19 | c.447G>A (p.Pro149=)
| |
| X | g.100408152G>A | CA414009665 | PCDH19 | c.446C>T (p.Pro149Leu)
| gnomAD v4 COSMIC |
| X | g.100408152G>C | CA414009666 | PCDH19 | c.446C>G (p.Pro149Arg)
| |
| X | g.100408152G>T | CA414009668 | PCDH19 | c.446C>A (p.Pro149Gln)
| |
| X | g.100408153G>A | CA414009674 | PCDH19 | c.445C>T (p.Pro149Ser)
| ClinVar dbSNP |
| X | g.100408153G>C | CA414009672 | PCDH19 | c.445C>G (p.Pro149Ala)
| ClinVar dbSNP |
| X | g.100408153G= | CA2447977045 | PCDH19 | c.445C= (p.Pro149=)
| |
| X | g.100408153G>T | CA414009670 | PCDH19 | c.445C>A (p.Pro149Thr)
| |
| X | g.100408154G>A | CA10468990 | PCDH19 | c.444C>T (p.Ile148=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408154G>C | CA414009677 | PCDH19 | c.444C>G (p.Ile148Met)
| ClinVar dbSNP |
| X | g.100408154G= | CA2447977046 | PCDH19 | c.444C= (p.Ile148=)
| |
| X | g.100408154G>T | CA517748761 | PCDH19 | c.444C>A (p.Ile148=)
| |
| X | g.100408155A>C | CA414009679 | PCDH19 | c.443T>G (p.Ile148Ser)
| |
| X | g.100408155A>G | CA414009681 | PCDH19 | c.443T>C (p.Ile148Thr)
| |
| X | g.100408155A>T | CA414009683 | PCDH19 | c.443T>A (p.Ile148Asn)
| |
| X | g.100408156T>A | CA414009685 | PCDH19 | c.442A>T (p.Ile148Phe)
| |
| X | g.100408156T>C | CA414009687 | PCDH19 | c.442A>G (p.Ile148Val)
| |
| X | g.100408156T>G | CA414009689 | PCDH19 | c.442A>C (p.Ile148Leu)
| |
| X | g.100408157G>A | CA517748767 | PCDH19 | c.441C>T (p.Arg147=)
| |
| X | g.100408157G>C | CA517748768 | PCDH19 | c.441C>G (p.Arg147=)
| |
| X | g.100408157G>T | CA517748769 | PCDH19 | c.441C>A (p.Arg147=)
| |
| X | g.100408158C>A | CA414009691 | PCDH19 | c.440G>T (p.Arg147Leu)
| |
| X | g.100408158C= | CA2447977047 | PCDH19 | c.440G= (p.Arg147=)
| |
| X | g.100408158C>G | CA414009693 | PCDH19 | c.440G>C (p.Arg147Pro)
| |
| X | g.100408158C>T | CA333826097 | PCDH19 | c.440G>A (p.Arg147His)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100408159G>A | CA414009696 | PCDH19 | c.439C>T (p.Arg147Cys)
| ClinVar gnomAD v4 COSMIC |
| X | g.100408159G>C | CA414009697 | PCDH19 | c.439C>G (p.Arg147Gly)
| |
| X | g.100408159G>T | CA414009698 | PCDH19 | c.439C>A (p.Arg147Ser)
| |
| X | g.100408160C>A | CA517748775 | PCDH19 | c.438G>T (p.Thr146=)
| |
| X | g.100408160C= | CA2447977048 | PCDH19 | c.438G= (p.Thr146=)
| |
| X | g.100408160C>G | CA10468991 | PCDH19 | c.438G>C (p.Thr146=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.100408160C>T | CA517748777 | PCDH19 | c.438G>A (p.Thr146=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408161G>A | CA414009702 | PCDH19 | c.437C>T (p.Thr146Met)
| ClinVar gnomAD v4 COSMIC |
| X | g.100408161G>C | CA316296 | PCDH19 | c.437C>G (p.Thr146Arg)
| ClinVar dbSNP |
| X | g.100408161G= | CA2447977049 | PCDH19 | c.437C= (p.Thr146=)
| |
| X | g.100408161G>T | CA414009704 | PCDH19 | c.437C>A (p.Thr146Lys)
| ClinVar dbSNP |
| X | g.100408162T>A | CA414009706 | PCDH19 | c.436A>T (p.Thr146Ser)
| |
| X | g.100408162T>C | CA414009708 | PCDH19 | c.436A>G (p.Thr146Ala)
| |
| X | g.100408162T>G | CA414009710 | PCDH19 | c.436A>C (p.Thr146Pro)
| |
| X | g.100408163G>A | CA517748786 | PCDH19 | c.435C>T (p.Gly145=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408163G>C | CA517748784 | PCDH19 | c.435C>G (p.Gly145=)
| |
| X | g.100408163G= | CA2447977050 | PCDH19 | c.435C= (p.Gly145=)
| |
| X | g.100408163G>T | CA517748788 | PCDH19 | c.435C>A (p.Gly145=)
| |
| X | g.100408164C>A | CA414009712 | PCDH19 | c.434G>T (p.Gly145Val)
| |
| X | g.100408164C>G | CA414009714 | PCDH19 | c.434G>C (p.Gly145Ala)
| |
| X | g.100408164C>T | CA414009716 | PCDH19 | c.434G>A (p.Gly145Asp)
| |
| X | g.100408165dup | CA2695234739 | PCDH19 | c.434dup (p.Thr146HisfsTer?)
| |
| X | g.100408165C>A | CA414009719 | PCDH19 | c.433G>T (p.Gly145Cys)
| |
| X | g.100408165C>G | CA414009720 | PCDH19 | c.433G>C (p.Gly145Arg)
| |
| X | g.100408165C>T | CA414009722 | PCDH19 | c.433G>A (p.Gly145Ser)
| gnomAD v4 COSMIC |
| X | g.100408166A>C | CA517748795 | PCDH19 | c.432T>G (p.Pro144=)
| |
| X | g.100408166A>G | CA517748796 | PCDH19 | c.432T>C (p.Pro144=)
| |
| X | g.100408166A>T | CA517748797 | PCDH19 | c.432T>A (p.Pro144=)
| |
| X | g.100408167G>A | CA414009727 | PCDH19 | c.431C>T (p.Pro144Leu)
| |
| X | g.100408167G>C | CA414009726 | PCDH19 | c.431C>G (p.Pro144Arg)
| |
| X | g.100408167G>T | CA414009724 | PCDH19 | c.431C>A (p.Pro144His)
| ClinVar COSMIC |
| X | g.100408168G>A | CA414009730 | PCDH19 | c.430C>T (p.Pro144Ser)
| |
| X | g.100408168G>C | CA414009734 | PCDH19 | c.430C>G (p.Pro144Ala)
| |
| X | g.100408168G>T | CA414009732 | PCDH19 | c.430C>A (p.Pro144Thr)
| |
| X | g.100408169G>A | CA517748804 | PCDH19 | c.429C>T (p.Ser143=)
| |
| X | g.100408169G>C | CA414009736 | PCDH19 | c.429C>G (p.Ser143Arg)
| |
| X | g.100408169G>T | CA414009738 | PCDH19 | c.429C>A (p.Ser143Arg)
| |
| X | g.100408170C>A | CA414009740 | PCDH19 | c.428G>T (p.Ser143Ile)
| COSMIC |
| X | g.100408170C>G | CA414009742 | PCDH19 | c.428G>C (p.Ser143Thr)
| |
| X | g.100408170C>T | CA414009744 | PCDH19 | c.428G>A (p.Ser143Asn)
| |
| X | g.100408171T>A | CA414009745 | PCDH19 | c.427A>T (p.Ser143Cys)
| |
| X | g.100408171T>C | CA414009747 | PCDH19 | c.427A>G (p.Ser143Gly)
| |
| X | g.100408171T>G | CA414009749 | PCDH19 | c.427A>C (p.Ser143Arg)
| dbSNP |
| X | g.100408171T= | CA2447977051 | PCDH19 | c.427A= (p.Ser143=)
| |
| X | g.100408172G>A | CA517748812 | PCDH19 | c.426C>T (p.Ala142=)
| |
| X | g.100408172G>C | CA517748813 | PCDH19 | c.426C>G (p.Ala142=)
| |
| X | g.100408172G>T | CA517748815 | PCDH19 | c.426C>A (p.Ala142=)
| |
| X | g.100408173G>A | CA414009751 | PCDH19 | c.425C>T (p.Ala142Val)
| |
| X | g.100408173G>C | CA414009753 | PCDH19 | c.425C>G (p.Ala142Gly)
| |
| X | g.100408173G>T | CA414009755 | PCDH19 | c.425C>A (p.Ala142Asp)
| |
| X | g.100408174del | CA2695234740 | PCDH19 | c.424del (p.Ala142ProfsTer?)
| |
| X | g.100408174C>A | CA414009760 | PCDH19 | c.424G>T (p.Ala142Ser)
| |
| X | g.100408174C= | CA2447977052 | PCDH19 | c.424G= (p.Ala142=)
| |
| X | g.100408174C>G | CA316293 | PCDH19 | c.424G>C (p.Ala142Pro)
| ClinVar dbSNP |
| X | g.100408174C>T | CA414009758 | PCDH19 | c.424G>A (p.Ala142Thr)
| |
| X | g.100408175T>A | CA517748823 | PCDH19 | c.423A>T (p.Ala141=)
| |
| X | g.100408175T>C | CA517748824 | PCDH19 | c.423A>G (p.Ala141=)
| |
| X | g.100408175T>G | CA517748825 | PCDH19 | c.423A>C (p.Ala141=)
| |
| X | g.100408175_100408183dup | CA2695234741 | PCDH19 | c.415_423dup (p.Ala141_Ala142insSerGluAla)
| |
| X | g.100408176G>A | CA414009762 | PCDH19 | c.422C>T (p.Ala141Val)
| |
| X | g.100408176G>C | CA414009764 | PCDH19 | c.422C>G (p.Ala141Gly)
| |
| X | g.100408176G>T | CA414009766 | PCDH19 | c.422C>A (p.Ala141Glu)
| |
| X | g.100408177C>A | CA414009768 | PCDH19 | c.421G>T (p.Ala141Ser)
| |
| X | g.100408177C>G | CA414009770 | PCDH19 | c.421G>C (p.Ala141Pro)
| |
| X | g.100408177C>T | CA414009772 | PCDH19 | c.421G>A (p.Ala141Thr)
| |
| X | g.100408178C>A | CA414009774 | PCDH19 | c.420G>T (p.Glu140Asp)
| |
| X | g.100408178C>G | CA414009776 | PCDH19 | c.420G>C (p.Glu140Asp)
| |
| X | g.100408178C>T | CA517748835 | PCDH19 | c.420G>A (p.Glu140=)
| |
| X | g.100408179T>A | CA414009779 | PCDH19 | c.419A>T (p.Glu140Val)
| |
| X | g.100408179T>C | CA414009780 | PCDH19 | c.419A>G (p.Glu140Gly)
| ClinVar dbSNP |
| X | g.100408179T>G | CA414009782 | PCDH19 | c.419A>C (p.Glu140Ala)
| |
| X | g.100408179T= | CA2447977053 | PCDH19 | c.419A= (p.Glu140=)
| |
| X | g.100408180C>A | CA414009786 | PCDH19 | c.418G>T (p.Glu140Ter)
| |
| X | g.100408180C>G | CA414009787 | PCDH19 | c.418G>C (p.Glu140Gln)
| ClinVar |
| X | g.100408180C>T | CA414009784 | PCDH19 | c.418G>A (p.Glu140Lys)
| ClinVar |
| X | g.100408181C>A | CA517748845 | PCDH19 | c.417G>T (p.Ser139=)
| |
| X | g.100408181C= | CA2447977054 | PCDH19 | c.417G= (p.Ser139=)
| |
| X | g.100408181C>G | CA333826098 | PCDH19 | c.417G>C (p.Ser139=)
| dbSNP |
| X | g.100408181C>T | CA517748849 | PCDH19 | c.417G>A (p.Ser139=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100408181_100408182dup | CA2695234742 | PCDH19 | c.416_417dup (p.Glu140ArgfsTer?)
| |
| X | g.100408182G>A | CA414009791 | PCDH19 | c.416C>T (p.Ser139Leu)
| ClinVar dbSNP |
| X | g.100408182G>C | CA414009793 | PCDH19 | c.416C>G (p.Ser139Trp)
| |
| X | g.100408182G= | CA2447977055 | PCDH19 | c.416C= (p.Ser139=)
| |
| X | g.100408182G>T | CA414009795 | PCDH19 | c.416C>A (p.Ser139Ter)
| |
| X | g.100408183A>C | CA414009797 | PCDH19 | c.415T>G (p.Ser139Ala)
| |
| X | g.100408183A>G | CA414009799 | PCDH19 | c.415T>C (p.Ser139Pro)
| |
| X | g.100408183A>T | CA414009801 | PCDH19 | c.415T>A (p.Ser139Thr)
| |
| X | g.100408184G>A | CA517748859 | PCDH19 | c.414C>T (p.Ile138=)
| |
| X | g.100408184G>C | CA414009803 | PCDH19 | c.414C>G (p.Ile138Met)
| |
| X | g.100408184G>T | CA517748857 | PCDH19 | c.414C>A (p.Ile138=)
| |
