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.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) | |
| 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) | |
| X | g.100407225T>A | CA414002864 | PCDH19 | c.1373A>T (p.Tyr458Phe) | |
| X | g.100407225T>C | CA414002865 | PCDH19 | c.1373A>G (p.Tyr458Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.100407225T>G | CA414002866 | PCDH19 | c.1373A>C (p.Tyr458Ser) | |
| X | g.100407225T= | CA2447976640 | PCDH19 | c.1373A= (p.Tyr458=) | |
| X | g.100407226A= | CA2447976641 | PCDH19 | c.1372T= (p.Tyr458=) | |
| X | g.100407226A>C | CA414002867 | PCDH19 | c.1372T>G (p.Tyr458Asp) | dbSNP gnomAD v4 |
| X | g.100407226A>G | CA16621148 | PCDH19 | c.1372T>C (p.Tyr458His) | ClinVar dbSNP |
| X | g.100407226A>T | CA414002868 | PCDH19 | c.1372T>A (p.Tyr458Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407226dup | CA2573159040 | PCDH19 | c.1372dup (p.Tyr458LeufsTer?) | ClinVar dbSNP |
| X | g.100407227G>A | CA517748621 | PCDH19 | c.1371C>T (p.Tyr457=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407227G>C | CA414002869 | PCDH19 | c.1371C>G (p.Tyr457Ter) | |
| X | g.100407227G= | CA2447976642 | PCDH19 | c.1371C= (p.Tyr457=) | |
| X | g.100407227G>T | CA414002870 | PCDH19 | c.1371C>A (p.Tyr457Ter) | |
| X | g.100407228T>A | CA414002871 | PCDH19 | c.1370A>T (p.Tyr457Phe) | gnomAD v4 |
| X | g.100407228T>C | CA414002872 | PCDH19 | c.1370A>G (p.Tyr457Cys) | |
| X | g.100407228T>G | CA414002873 | PCDH19 | c.1370A>C (p.Tyr457Ser) | |
| X | g.100407229A>C | CA414002876 | PCDH19 | c.1369T>G (p.Tyr457Asp) | |
| X | g.100407229A>G | CA414002874 | PCDH19 | c.1369T>C (p.Tyr457His) | |
| X | g.100407229A>T | CA414002875 | PCDH19 | c.1369T>A (p.Tyr457Asn) | |
| X | g.100407230G>A | CA517748640 | PCDH19 | c.1368C>T (p.Pro456=) | dbSNP gnomAD v4 |
| X | g.100407230G>C | CA517748637 | PCDH19 | c.1368C>G (p.Pro456=) | |
| X | g.100407230G= | CA2447976643 | PCDH19 | c.1368C= (p.Pro456=) | |
| X | g.100407230G>T | CA517748635 | PCDH19 | c.1368C>A (p.Pro456=) | |
| X | g.100407231G>A | CA414002877 | PCDH19 | c.1367C>T (p.Pro456Leu) | |
| X | g.100407231G>C | CA414002878 | PCDH19 | c.1367C>G (p.Pro456Arg) | |
| X | g.100407231G>T | CA414002879 | PCDH19 | c.1367C>A (p.Pro456His) | gnomAD v4 |
| X | g.100407232G>A | CA414002880 | PCDH19 | c.1366C>T (p.Pro456Ser) | ClinVar gnomAD v4 |
| X | g.100407232G>C | CA414002881 | PCDH19 | c.1366C>G (p.Pro456Ala) | gnomAD v4 |
| X | g.100407232G>T | CA414002882 | PCDH19 | c.1366C>A (p.Pro456Thr) | dbSNP |
| X | g.100407233C>A | CA414002884 | PCDH19 | c.1365G>T (p.Lys455Asn) | |
| X | g.100407233C>G | CA414002883 | PCDH19 | c.1365G>C (p.Lys455Asn) | |
| X | g.100407233C>T | CA517748652 | PCDH19 | c.1365G>A (p.Lys455=) | |
| X | g.100407234T>A | CA414002885 | PCDH19 | c.1364A>T (p.Lys455Met) | |
| X | g.100407234T>C | CA414002886 | PCDH19 | c.1364A>G (p.Lys455Arg) | ClinVar |
| X | g.100407234T>G | CA414002887 | PCDH19 | c.1364A>C (p.Lys455Thr) | |
| X | g.100407235T>A | CA414002888 | PCDH19 | c.1363A>T (p.Lys455Ter) | |
| X | g.100407235T>C | CA414002889 | PCDH19 | c.1363A>G (p.Lys455Glu) | |
| X | g.100407235T>G | CA414002890 | PCDH19 | c.1363A>C (p.Lys455Gln) | |
| X | g.100407236G>A | CA517748657 | PCDH19 | c.1362C>T (p.Ser454=) | dbSNP |
| X | g.100407236G>C | CA333826071 | PCDH19 | c.1362C>G (p.Ser454=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407236G= | CA2447976644 | PCDH19 | c.1362C= (p.Ser454=) | |
| X | g.100407236G>T | CA517748658 | PCDH19 | c.1362C>A (p.Ser454=) | |
| X | g.100407237G>A | CA414002892 | PCDH19 | c.1361C>T (p.Ser454Phe) | dbSNP |
| X | g.100407237G>C | CA414002891 | PCDH19 | c.1361C>G (p.Ser454Cys) | |
| X | g.100407237G= | CA2447976645 | PCDH19 | c.1361C= (p.Ser454=) | |
| X | g.100407237G>T | CA10468892 | PCDH19 | c.1361C>A (p.Ser454Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407237_100407238delinsTT | CA2573159041 | PCDH19 | c.1360_1361delinsAA (p.Ser454Asn) | ClinVar dbSNP |
| X | g.100407238A= | CA2447976646 | PCDH19 | c.1360T= (p.Ser454=) | |
| X | g.100407238A>C | CA414002893 | PCDH19 | c.1360T>G (p.Ser454Ala) | |
| X | g.100407238A>G | CA414002894 | PCDH19 | c.1360T>C (p.Ser454Pro) | |
| X | g.100407238A>T | CA10468893 | PCDH19 | c.1360T>A (p.Ser454Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407239A>C | CA414002895 | PCDH19 | c.1359T>G (p.Phe453Leu) | |
| X | g.100407239A>G | CA517748671 | PCDH19 | c.1359T>C (p.Phe453=) | |
| X | g.100407239A>T | CA414002896 | PCDH19 | c.1359T>A (p.Phe453Leu) | |
| X | g.100407240A= | CA2447976647 | PCDH19 | c.1358T= (p.Phe453=) | |
| X | g.100407240A>C | CA414002897 | PCDH19 | c.1358T>G (p.Phe453Cys) | |
| X | g.100407240A>G | CA414002898 | PCDH19 | c.1358T>C (p.Phe453Ser) | |
| X | g.100407240A>T | CA414002899 | PCDH19 | c.1358T>A (p.Phe453Tyr) | dbSNP gnomAD v2 |
| X | g.100407241A>C | CA414002900 | PCDH19 | c.1357T>G (p.Phe453Val) | |
| X | g.100407241A>G | CA414002901 | PCDH19 | c.1357T>C (p.Phe453Leu) | |
| X | g.100407241A>T | CA414002902 | PCDH19 | c.1357T>A (p.Phe453Ile) | |
| X | g.100407242G>A | CA517748677 | PCDH19 | c.1356C>T (p.His452=) | |
| X | g.100407242G>C | CA414002903 | PCDH19 | c.1356C>G (p.His452Gln) | |
| X | g.100407242G>T | CA414002904 | PCDH19 | c.1356C>A (p.His452Gln) | COSMIC |
| X | g.100407243T>A | CA414002905 | PCDH19 | c.1355A>T (p.His452Leu) | |
| X | g.100407243T>C | CA10468894 | PCDH19 | c.1355A>G (p.His452Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407243T>G | CA414002906 | PCDH19 | c.1355A>C (p.His452Pro) | ClinVar dbSNP |
| X | g.100407243T= | CA2447976648 | PCDH19 | c.1355A= (p.His452=) | |
| X | g.100407243_100407249del | CA2580100032 | PCDH19 | c.1349_1355del (p.His450ProfsTer?) | ClinVar |
| X | g.100407244G>A | CA414002907 | PCDH19 | c.1354C>T (p.His452Tyr) | |
| X | g.100407244G>C | CA414002908 | PCDH19 | c.1354C>G (p.His452Asp) | |
| X | g.100407244G>T | CA414002909 | PCDH19 | c.1354C>A (p.His452Asn) | |
| X | g.100407245del | CA2573159042 | PCDH19 | c.1353del (p.His452ThrfsTer?) | ClinVar dbSNP |
| X | g.100407245C>A | CA10468896 | PCDH19 | c.1353G>T (p.Pro451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407245C= | CA2447976649 | PCDH19 | c.1353G= (p.Pro451=) | |
| X | g.100407245C>G | CA517748687 | PCDH19 | c.1353G>C (p.Pro451=) | |
| X | g.100407245C>T | CA10468895 | PCDH19 | c.1353G>A (p.Pro451=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407246G>A | CA414002912 | PCDH19 | c.1352C>T (p.Pro451Leu) | ClinVar |
| X | g.100407246G>C | CA414002911 | PCDH19 | c.1352C>G (p.Pro451Arg) | |
| X | g.100407246G>T | CA414002910 | PCDH19 | c.1352C>A (p.Pro451Gln) | COSMIC |
| X | g.100407247G>A | CA316351 | PCDH19 | c.1351C>T (p.Pro451Ser) | ClinVar dbSNP |
| X | g.100407247G>C | CA414002913 | PCDH19 | c.1351C>G (p.Pro451Ala) | |
| X | g.100407247G= | CA2447976650 | PCDH19 | c.1351C= (p.Pro451=) | |
| X | g.100407247G>T | CA414002914 | PCDH19 | c.1351C>A (p.Pro451Thr) | |
| X | g.100407248G>A | CA10468897 | PCDH19 | c.1350C>T (p.His450=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407248G>C | CA414002915 | PCDH19 | c.1350C>G (p.His450Gln) | |
| X | g.100407248G= | CA2447976651 | PCDH19 | c.1350C= (p.His450=) | |
| X | g.100407248G>T | CA414002916 | PCDH19 | c.1350C>A (p.His450Gln) | |
| X | g.100407249T>A | CA414002919 | PCDH19 | c.1349A>T (p.His450Leu) | |
| X | g.100407249T>C | CA414002917 | PCDH19 | c.1349A>G (p.His450Arg) | |
| X | g.100407249T>G | CA414002918 | PCDH19 | c.1349A>C (p.His450Pro) | ClinVar dbSNP |
| X | g.100407250G>A | CA414002920 | PCDH19 | c.1348C>T (p.His450Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407250G>C | CA414002921 | PCDH19 | c.1348C>G (p.His450Asp) | |
| X | g.100407250G= | CA2447976652 | PCDH19 | c.1348C= (p.His450=) | |
| X | g.100407250G>T | CA414002922 | PCDH19 | c.1348C>A (p.His450Asn) | |
| X | g.100407251G>A | CA517747823 | PCDH19 | c.1347C>T (p.Asn449=) | ClinVar |
| X | g.100407251G>C | CA414002923 | PCDH19 | c.1347C>G (p.Asn449Lys) | |
| X | g.100407251G>T | CA414002924 | PCDH19 | c.1347C>A (p.Asn449Lys) | |
| X | g.100407253_100407255dup | CA2695235317 | PCDH19 | c.1345_1347dup (p.Asn449_His450insAsn) | |
| X | g.100407252T>A | CA414002925 | PCDH19 | c.1346A>T (p.Asn449Ile) | |
| X | g.100407252T>C | CA414002926 | PCDH19 | c.1346A>G (p.Asn449Ser) | |
| X | g.100407252T>G | CA414002927 | PCDH19 | c.1346A>C (p.Asn449Thr) | |
| X | g.100407253T>A | CA414002928 | PCDH19 | c.1345A>T (p.Asn449Tyr) | |
| X | g.100407253T>C | CA414002929 | PCDH19 | c.1345A>G (p.Asn449Asp) | |
| X | g.100407253T>G | CA414002930 | PCDH19 | c.1345A>C (p.Asn449His) | |
| X | g.100407254G>A | CA517747827 | PCDH19 | c.1344C>T (p.Asp448=) | |
| X | g.100407254G>C | CA414002931 | PCDH19 | c.1344C>G (p.Asp448Glu) | |
| X | g.100407254G>T | CA414002932 | PCDH19 | c.1344C>A (p.Asp448Glu) | |
| X | g.100407255T>A | CA414002933 | PCDH19 | c.1343A>T (p.Asp448Val) | |
| X | g.100407255T>C | CA414002935 | PCDH19 | c.1343A>G (p.Asp448Gly) | ClinVar dbSNP |
| X | g.100407255T>G | CA414002934 | PCDH19 | c.1343A>C (p.Asp448Ala) | |
| X | g.100407255T= | CA2447976653 | PCDH19 | c.1343A= (p.Asp448=) | |
| X | g.100407256C>A | CA414002936 | PCDH19 | c.1342G>T (p.Asp448Tyr) | ClinVar dbSNP |
| X | g.100407256C= | CA2447976654 | PCDH19 | c.1342G= (p.Asp448=) | |
| X | g.100407256C>G | CA414002937 | PCDH19 | c.1342G>C (p.Asp448His) | |
| X | g.100407256C>T | CA414002938 | PCDH19 | c.1342G>A (p.Asp448Asn) | ClinVar dbSNP |
| X | g.100407257A>C | CA414002939 | PCDH19 | c.1341T>G (p.Asn447Lys) | |
| X | g.100407257A>G | CA517747830 | PCDH19 | c.1341T>C (p.Asn447=) | |
| X | g.100407257A>T | CA414002940 | PCDH19 | c.1341T>A (p.Asn447Lys) | |
| X | g.100407258T>A | CA414002941 | PCDH19 | c.1340A>T (p.Asn447Ile) | |
| X | g.100407258T>C | CA414002942 | PCDH19 | c.1340A>G (p.Asn447Ser) | |
| X | g.100407258T>G | CA414002944 | PCDH19 | c.1340A>C (p.Asn447Thr) | ClinVar |
| X | g.100407259T>A | CA414002947 | PCDH19 | c.1339A>T (p.Asn447Tyr) | dbSNP |
| X | g.100407259T>C | CA414002949 | PCDH19 | c.1339A>G (p.Asn447Asp) | ClinVar dbSNP |
| X | g.100407259T>G | CA414002951 | PCDH19 | c.1339A>C (p.Asn447His) | |
| X | g.100407260T>A | CA414002953 | PCDH19 | c.1338A>T (p.Glu446Asp) | |
| X | g.100407260T>C | CA517747834 | PCDH19 | c.1338A>G (p.Glu446=) | |
| X | g.100407260T>G | CA414002955 | PCDH19 | c.1338A>C (p.Glu446Asp) | |
| X | g.100407261T>A | CA414002958 | PCDH19 | c.1337A>T (p.Glu446Val) | |
| X | g.100407261T>C | CA414002956 | PCDH19 | c.1337A>G (p.Glu446Gly) | |
| X | g.100407261T>G | CA414002957 | PCDH19 | c.1337A>C (p.Glu446Ala) | |
| X | g.100407262C>A | CA414002959 | PCDH19 | c.1336G>T (p.Glu446Ter) | dbSNP gnomAD v4 |
| X | g.100407262C= | CA2447976655 | PCDH19 | c.1336G= (p.Glu446=) | |
| X | g.100407262C>G | CA414002961 | PCDH19 | c.1336G>C (p.Glu446Gln) | |
| X | g.100407262C>T | CA414002962 | PCDH19 | c.1336G>A (p.Glu446Lys) | COSMIC |
| X | g.100407263G>A | CA517747835 | PCDH19 | c.1335C>T (p.Asp445=) | |
| X | g.100407263G>C | CA16616395 | PCDH19 | c.1335C>G (p.Asp445Glu) | ClinVar dbSNP |
| X | g.100407263G= | CA2447976656 | PCDH19 | c.1335C= (p.Asp445=) | |
| X | g.100407263G>T | CA316348 | PCDH19 | c.1335C>A (p.Asp445Glu) | ClinVar dbSNP |