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.100406541_100407019delinsGCAGAGA | CA2580100061 | PCDH19 | c.1579_2057delinsTCTCTGC (p.Lys527SerfsTer11) | ClinVar |
| X | g.100406971G>A | CA147192 | PCDH19 | c.1627C>T (p.Leu543=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406971G>C | CA414002310 | PCDH19 | c.1627C>G (p.Leu543Val) | |
| X | g.100406971G= | CA2447976542 | PCDH19 | c.1627C= (p.Leu543=) | |
| X | g.100406971G>T | CA414002311 | PCDH19 | c.1627C>A (p.Leu543Met) | |
| X | g.100406972T>A | CA517747707 | PCDH19 | c.1626A>T (p.Ser542=) | |
| X | g.100406972T>C | CA517747709 | PCDH19 | c.1626A>G (p.Ser542=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406972T>G | CA517747711 | PCDH19 | c.1626A>C (p.Ser542=) | |
| X | g.100406972T= | CA2447976543 | PCDH19 | c.1626A= (p.Ser542=) | |
| X | g.100406973G>A | CA414002312 | PCDH19 | c.1625C>T (p.Ser542Leu) | |
| X | g.100406973G>C | CA316360 | PCDH19 | c.1625C>G (p.Ser542Ter) | ClinVar dbSNP |
| X | g.100406973G= | CA2447976544 | PCDH19 | c.1625C= (p.Ser542=) | |
| X | g.100406973G>T | CA414002313 | PCDH19 | c.1625C>A (p.Ser542Ter) | |
| X | g.100406974A>C | CA414002314 | PCDH19 | c.1624T>G (p.Ser542Ala) | |
| X | g.100406974A>G | CA414002316 | PCDH19 | c.1624T>C (p.Ser542Pro) | |
| X | g.100406974A>T | CA414002315 | PCDH19 | c.1624T>A (p.Ser542Thr) | |
| X | g.100406974_100406975delinsAG | CA2447976545 | PCDH19 | c.1623_1624delinsCT (p.Pro541=) | |
| X | g.100406975G>A | CA517747714 | PCDH19 | c.1623C>T (p.Pro541=) | |
| X | g.100406975G>C | CA10468863 | PCDH19 | c.1623C>G (p.Pro541=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406975G= | CA2447976546 | PCDH19 | c.1623C= (p.Pro541=) | |
| X | g.100406975G>T | CA517747713 | PCDH19 | c.1623C>A (p.Pro541=) | |
| X | g.100406977del | CA915951269 | PCDH19 | c.1623del (p.Ser542HisfsTer27) | ClinVar dbSNP |
| X | g.100406976G>A | CA414002317 | PCDH19 | c.1622C>T (p.Pro541Leu) | |
| X | g.100406976G>C | CA414002318 | PCDH19 | c.1622C>G (p.Pro541Arg) | |
| X | g.100406976G>T | CA414002319 | PCDH19 | c.1622C>A (p.Pro541His) | |
| X | g.100406977G>A | CA414002320 | PCDH19 | c.1621C>T (p.Pro541Ser) | COSMIC COSMIC |
| X | g.100406977G>C | CA414002321 | PCDH19 | c.1621C>G (p.Pro541Ala) | |
| X | g.100406977G>T | CA414002322 | PCDH19 | c.1621C>A (p.Pro541Thr) | |
| X | g.100406978A>C | CA517747719 | PCDH19 | c.1620T>G (p.Leu540=) | |
| X | g.100406978A>G | CA517747720 | PCDH19 | c.1620T>C (p.Leu540=) | ClinVar gnomAD v4 |
| X | g.100406978A>T | CA517747721 | PCDH19 | c.1620T>A (p.Leu540=) | |
| X | g.100406979A>C | CA414002323 | PCDH19 | c.1619T>G (p.Leu540Arg) | |
| X | g.100406979A>G | CA414002324 | PCDH19 | c.1619T>C (p.Leu540Pro) | |
| X | g.100406979A>T | CA414002325 | PCDH19 | c.1619T>A (p.Leu540His) | |
| X | g.100406980G>A | CA316357 | PCDH19 | c.1618C>T (p.Leu540Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406980G>C | CA414002327 | PCDH19 | c.1618C>G (p.Leu540Val) | |
| X | g.100406980G= | CA2447976547 | PCDH19 | c.1618C= (p.Leu540=) | |
| X | g.100406980G>T | CA414002326 | PCDH19 | c.1618C>A (p.Leu540Ile) | |
| X | g.100406981G>A | CA517747728 | PCDH19 | c.1617C>T (p.Gly539=) | gnomAD v4 |
| X | g.100406981G>C | CA517747726 | PCDH19 | c.1617C>G (p.Gly539=) | gnomAD v4 |
| X | g.100406981G>T | CA517747727 | PCDH19 | c.1617C>A (p.Gly539=) | |
| X | g.100406982C>A | CA414002328 | PCDH19 | c.1616G>T (p.Gly539Val) | |
| X | g.100406982C= | CA2447976548 | PCDH19 | c.1616G= (p.Gly539=) | |
| X | g.100406982C>G | CA414002329 | PCDH19 | c.1616G>C (p.Gly539Ala) | |
| X | g.100406982C>T | CA414002330 | PCDH19 | c.1616G>A (p.Gly539Asp) | dbSNP |
| X | g.100406983C>A | CA414002331 | PCDH19 | c.1615G>T (p.Gly539Cys) | |
| X | g.100406983C>G | CA414002332 | PCDH19 | c.1615G>C (p.Gly539Arg) | |
| X | g.100406983C>T | CA414002333 | PCDH19 | c.1615G>A (p.Gly539Ser) | COSMIC COSMIC |
| X | g.100406984G>A | CA517747731 | PCDH19 | c.1614C>T (p.Gly538=) | dbSNP |
| X | g.100406984G>C | CA517747732 | PCDH19 | c.1614C>G (p.Gly538=) | |
| X | g.100406984G= | CA2447976549 | PCDH19 | c.1614C= (p.Gly538=) | |
| X | g.100406984G>T | CA517747733 | PCDH19 | c.1614C>A (p.Gly538=) | |
| X | g.100406985C>A | CA414002334 | PCDH19 | c.1613G>T (p.Gly538Val) | |
| X | g.100406985C>G | CA414002335 | PCDH19 | c.1613G>C (p.Gly538Ala) | |
| X | g.100406985C>T | CA414002336 | PCDH19 | c.1613G>A (p.Gly538Asp) | ClinVar COSMIC COSMIC |
| X | g.100406986C>A | CA414002337 | PCDH19 | c.1612G>T (p.Gly538Cys) | |
| X | g.100406986C= | CA2447976550 | PCDH19 | c.1612G= (p.Gly538=) | |
| X | g.100406986C>G | CA414002338 | PCDH19 | c.1612G>C (p.Gly538Arg) | |
| X | g.100406986C>T | CA414002339 | PCDH19 | c.1612G>A (p.Gly538Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100406986_100406993del | CA2695235309 | PCDH19 | c.1605_1612del (p.Lys536ArgfsTer?) | |
| X | g.100406987G>A | CA10468864 | PCDH19 | c.1611C>T (p.Asp537=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100406987G>C | CA414002341 | PCDH19 | c.1611C>G (p.Asp537Glu) | |
| X | g.100406987G= | CA2447976551 | PCDH19 | c.1611C= (p.Asp537=) | |
| X | g.100406987G>T | CA414002340 | PCDH19 | c.1611C>A (p.Asp537Glu) | ClinVar dbSNP |
| X | g.100406988T>A | CA414002342 | PCDH19 | c.1610A>T (p.Asp537Val) | |
| X | g.100406988T>C | CA414002343 | PCDH19 | c.1610A>G (p.Asp537Gly) | |
| X | g.100406988T>G | CA414002344 | PCDH19 | c.1610A>C (p.Asp537Ala) | |
| X | g.100406989C>A | CA414002345 | PCDH19 | c.1609G>T (p.Asp537Tyr) | |
| X | g.100406989C>G | CA414002346 | PCDH19 | c.1609G>C (p.Asp537His) | |
| X | g.100406989C>T | CA414002347 | PCDH19 | c.1609G>A (p.Asp537Asn) | |
| X | g.100406990C>A | CA414002348 | PCDH19 | c.1608G>T (p.Lys536Asn) | |
| X | g.100406990C>G | CA414002349 | PCDH19 | c.1608G>C (p.Lys536Asn) | |
| X | g.100406990C>T | CA517747746 | PCDH19 | c.1608G>A (p.Lys536=) | |
| X | g.100406991T>A | CA414002350 | PCDH19 | c.1607A>T (p.Lys536Met) | |
| X | g.100406991T>C | CA414002351 | PCDH19 | c.1607A>G (p.Lys536Arg) | |
| X | g.100406991T>G | CA414002352 | PCDH19 | c.1607A>C (p.Lys536Thr) | |
| X | g.100406992T>A | CA414002353 | PCDH19 | c.1606A>T (p.Lys536Ter) | |
| X | g.100406992T>C | CA414002354 | PCDH19 | c.1606A>G (p.Lys536Glu) | |
| X | g.100406992T>G | CA414002355 | PCDH19 | c.1606A>C (p.Lys536Gln) | |
| X | g.100406993G>A | CA10468865 | PCDH19 | c.1605C>T (p.Ala535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.100406993G>C | CA517747953 | PCDH19 | c.1605C>G (p.Ala535=) | |
| X | g.100406993G= | CA2447976552 | PCDH19 | c.1605C= (p.Ala535=) | |
| X | g.100406993G>T | CA517747954 | PCDH19 | c.1605C>A (p.Ala535=) | dbSNP |
| X | g.100406994G>A | CA414002357 | PCDH19 | c.1604C>T (p.Ala535Val) | |
| X | g.100406994G>C | CA414002356 | PCDH19 | c.1604C>G (p.Ala535Gly) | |
| X | g.100406994G>T | CA414002358 | PCDH19 | c.1604C>A (p.Ala535Asp) | |
| X | g.100406995C>A | CA414002359 | PCDH19 | c.1603G>T (p.Ala535Ser) | |
| X | g.100406995C>G | CA414002361 | PCDH19 | c.1603G>C (p.Ala535Pro) | |
| X | g.100406995C>T | CA414002360 | PCDH19 | c.1603G>A (p.Ala535Thr) | |
| X | g.100406996C>A | CA517747958 | PCDH19 | c.1602G>T (p.Leu534=) | |
| X | g.100406996C= | CA2447976553 | PCDH19 | c.1602G= (p.Leu534=) | |
| X | g.100406996C>G | CA517747959 | PCDH19 | c.1602G>C (p.Leu534=) | |
| X | g.100406996C>T | CA10468866 | PCDH19 | c.1602G>A (p.Leu534=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406997A>C | CA414002364 | PCDH19 | c.1601T>G (p.Leu534Arg) | |
| X | g.100406997A>G | CA414002362 | PCDH19 | c.1601T>C (p.Leu534Pro) | ClinVar |
| X | g.100406997A>T | CA414002363 | PCDH19 | c.1601T>A (p.Leu534Gln) | |
| X | g.100406998G>A | CA517747960 | PCDH19 | c.1600C>T (p.Leu534=) | |
| X | g.100406998G>C | CA414002365 | PCDH19 | c.1600C>G (p.Leu534Val) | |
| X | g.100406998G>T | CA414002366 | PCDH19 | c.1600C>A (p.Leu534Met) | |
| X | g.100406999C>A | CA517747964 | PCDH19 | c.1599G>T (p.Val533=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100406999C= | CA2447976554 | PCDH19 | c.1599G= (p.Val533=) | |
| X | g.100406999C>G | CA517747965 | PCDH19 | c.1599G>C (p.Val533=) | |
| X | g.100406999C>T | CA517747966 | PCDH19 | c.1599G>A (p.Val533=) | |
| X | g.100407000A>C | CA414002367 | PCDH19 | c.1598T>G (p.Val533Gly) | |
| X | g.100407000A>G | CA414002368 | PCDH19 | c.1598T>C (p.Val533Ala) | gnomAD v4 |
| X | g.100407000A>T | CA414002369 | PCDH19 | c.1598T>A (p.Val533Glu) | |
| X | g.100407001C>A | CA414002370 | PCDH19 | c.1597G>T (p.Val533Leu) | |
| X | g.100407001C>G | CA414002371 | PCDH19 | c.1597G>C (p.Val533Leu) | |
| X | g.100407001C>T | CA414002372 | PCDH19 | c.1597G>A (p.Val533Met) | |
| X | g.100407002C>A | CA414002373 | PCDH19 | c.1596G>T (p.Lys532Asn) | |
| X | g.100407002C= | CA2447976555 | PCDH19 | c.1596G= (p.Lys532=) | |
| X | g.100407002C>G | CA414002374 | PCDH19 | c.1596G>C (p.Lys532Asn) | |
| X | g.100407002C>T | CA517747969 | PCDH19 | c.1596G>A (p.Lys532=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407003T>A | CA414002375 | PCDH19 | c.1595A>T (p.Lys532Met) | |
| X | g.100407003T>C | CA414002377 | PCDH19 | c.1595A>G (p.Lys532Arg) | gnomAD v4 |
| X | g.100407003T>G | CA414002376 | PCDH19 | c.1595A>C (p.Lys532Thr) | |
| X | g.100407004T>A | CA414002378 | PCDH19 | c.1594A>T (p.Lys532Ter) | |
| X | g.100407004T>C | CA414002379 | PCDH19 | c.1594A>G (p.Lys532Glu) | |
| X | g.100407004T>G | CA414002380 | PCDH19 | c.1594A>C (p.Lys532Gln) | |
| X | g.100407005G>A | CA10468867 | PCDH19 | c.1593C>T (p.Phe531=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407005G>C | CA414002381 | PCDH19 | c.1593C>G (p.Phe531Leu) | dbSNP |
| X | g.100407005G= | CA2447976556 | PCDH19 | c.1593C= (p.Phe531=) | |
| X | g.100407005G>T | CA333826068 | PCDH19 | c.1593C>A (p.Phe531Leu) | dbSNP gnomAD v4 |
| X | g.100407006A>C | CA414002382 | PCDH19 | c.1592T>G (p.Phe531Cys) | |
| X | g.100407006A>G | CA414002383 | PCDH19 | c.1592T>C (p.Phe531Ser) | |
| X | g.100407006A>T | CA414002384 | PCDH19 | c.1592T>A (p.Phe531Tyr) | |
| X | g.100407007A>C | CA414002386 | PCDH19 | c.1591T>G (p.Phe531Val) | |
| X | g.100407007A>G | CA414002387 | PCDH19 | c.1591T>C (p.Phe531Leu) | |
| X | g.100407007A>T | CA414002385 | PCDH19 | c.1591T>A (p.Phe531Ile) | |
| X | g.100407008T>A | CA414002388 | PCDH19 | c.1590A>T (p.Glu530Asp) | |
| X | g.100407008T>C | CA517747971 | PCDH19 | c.1590A>G (p.Glu530=) | |
| X | g.100407008T>G | CA414002389 | PCDH19 | c.1590A>C (p.Glu530Asp) | |
| X | g.100407009T>A | CA414002390 | PCDH19 | c.1589A>T (p.Glu530Val) | |
| X | g.100407009T>C | CA414002391 | PCDH19 | c.1589A>G (p.Glu530Gly) | |
| X | g.100407009T>G | CA414002392 | PCDH19 | c.1589A>C (p.Glu530Ala) | |
| X | g.100407010C>A | CA414002395 | PCDH19 | c.1588G>T (p.Glu530Ter) | |
| X | g.100407010C>G | CA414002393 | PCDH19 | c.1588G>C (p.Glu530Gln) | |
| X | g.100407010C>T | CA414002394 | PCDH19 | c.1588G>A (p.Glu530Lys) | COSMIC COSMIC |
| X | g.100407011G>A | CA517747973 | PCDH19 | c.1587C>T (p.Phe529=) | |
| X | g.100407011G>C | CA414002396 | PCDH19 | c.1587C>G (p.Phe529Leu) | |
| X | g.100407011G>T | CA414002397 | PCDH19 | c.1587C>A (p.Phe529Leu) | |
| X | g.100407012A>C | CA414002398 | PCDH19 | c.1586T>G (p.Phe529Cys) | |
| X | g.100407012A>G | CA414002399 | PCDH19 | c.1586T>C (p.Phe529Ser) | |
| X | g.100407012A>T | CA414002400 | PCDH19 | c.1586T>A (p.Phe529Tyr) | |
| X | g.100407013A>C | CA414002401 | PCDH19 | c.1585T>G (p.Phe529Val) | |
| X | g.100407013A>G | CA414002403 | PCDH19 | c.1585T>C (p.Phe529Leu) | |
| X | g.100407013A>T | CA414002402 | PCDH19 | c.1585T>A (p.Phe529Ile) | |
| X | g.100407014C>A | CA517747974 | PCDH19 | c.1584G>T (p.Ala528=) | gnomAD v4 |
| X | g.100407014C>G | CA517747975 | PCDH19 | c.1584G>C (p.Ala528=) | |
| X | g.100407014C>T | CA517747976 | PCDH19 | c.1584G>A (p.Ala528=) | |
| X | g.100407015G>A | CA414002404 | PCDH19 | c.1583C>T (p.Ala528Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407015G>C | CA414002405 | PCDH19 | c.1583C>G (p.Ala528Gly) | |
| X | g.100407015G= | CA2447976557 | PCDH19 | c.1583C= (p.Ala528=) | |
| X | g.100407015G>T | CA414002406 | PCDH19 | c.1583C>A (p.Ala528Glu) | |
| X | g.100407016C>A | CA414002407 | PCDH19 | c.1582G>T (p.Ala528Ser) | |
| X | g.100407016C>G | CA414002408 | PCDH19 | c.1582G>C (p.Ala528Pro) | |
| X | g.100407016C>T | CA414002409 | PCDH19 | c.1582G>A (p.Ala528Thr) | |
| X | g.100407017C>A | CA414002410 | PCDH19 | c.1581G>T (p.Lys527Asn) | |
| X | g.100407017C= | CA2447976558 | PCDH19 | c.1581G= (p.Lys527=) | |
| X | g.100407017C>G | CA414002411 | PCDH19 | c.1581G>C (p.Lys527Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407017C>T | CA517747978 | PCDH19 | c.1581G>A (p.Lys527=) | ClinVar |
| X | g.100407018T>A | CA414002412 | PCDH19 | c.1580A>T (p.Lys527Met) | |
| X | g.100407018T>C | CA414002413 | PCDH19 | c.1580A>G (p.Lys527Arg) | |
| X | g.100407018T>G | CA414002414 | PCDH19 | c.1580A>C (p.Lys527Thr) | |
| X | g.100407019T>A | CA414002416 | PCDH19 | c.1579A>T (p.Lys527Ter) | |
| X | g.100407019T>C | CA414002417 | PCDH19 | c.1579A>G (p.Lys527Glu) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407019T>G | CA414002415 | PCDH19 | c.1579A>C (p.Lys527Gln) | |
| X | g.100407019T= | CA2447976559 | PCDH19 | c.1579A= (p.Lys527=) | |
| X | g.100407020G>A | CA517747980 | PCDH19 | c.1578C>T (p.Thr526=) | |
| X | g.100407020G>C | CA333826069 | PCDH19 | c.1578C>G (p.Thr526=) | dbSNP gnomAD v4 |
| X | g.100407020G= | CA2447976560 | PCDH19 | c.1578C= (p.Thr526=) | |
| X | g.100407020G>T | CA517747981 | PCDH19 | c.1578C>A (p.Thr526=) | COSMIC COSMIC |
| X | g.100407021G>A | CA414002420 | PCDH19 | c.1577C>T (p.Thr526Ile) | |
| X | g.100407021G>C | CA414002418 | PCDH19 | c.1577C>G (p.Thr526Ser) | |
| X | g.100407021G>T | CA414002419 | PCDH19 | c.1577C>A (p.Thr526Asn) | |
| X | g.100407022T>A | CA414002421 | PCDH19 | c.1576A>T (p.Thr526Ser) | |
| X | g.100407022T>C | CA414002422 | PCDH19 | c.1576A>G (p.Thr526Ala) | |
| X | g.100407022T>G | CA414002423 | PCDH19 | c.1576A>C (p.Thr526Pro) | |
| X | g.100407023C>A | CA414002424 | PCDH19 | c.1575G>T (p.Gln525His) | |
| X | g.100407023C>G | CA414002425 | PCDH19 | c.1575G>C (p.Gln525His) | |
| X | g.100407023C>T | CA517747983 | PCDH19 | c.1575G>A (p.Gln525=) | |
| X | g.100407024T>A | CA414002426 | PCDH19 | c.1574A>T (p.Gln525Leu) | |
| X | g.100407024T>C | CA414002427 | PCDH19 | c.1574A>G (p.Gln525Arg) | |
| X | g.100407024T>G | CA414002428 | PCDH19 | c.1574A>C (p.Gln525Pro) | |
| X | g.100407025G>A | CA414002429 | PCDH19 | c.1573C>T (p.Gln525Ter) | |
| X | g.100407025G>C | CA414002430 | PCDH19 | c.1573C>G (p.Gln525Glu) | |
| X | g.100407025G>T | CA414002431 | PCDH19 | c.1573C>A (p.Gln525Lys) | |
| X | g.100407026C>A | CA414002432 | PCDH19 | c.1572G>T (p.Glu524Asp) | |
| X | g.100407026C>G | CA414002433 | PCDH19 | c.1572G>C (p.Glu524Asp) | |
| X | g.100407026C>T | CA517747986 | PCDH19 | c.1572G>A (p.Glu524=) | COSMIC COSMIC |
| X | g.100407027T>A | CA414002434 | PCDH19 | c.1571A>T (p.Glu524Val) | |
| X | g.100407027T>C | CA414002435 | PCDH19 | c.1571A>G (p.Glu524Gly) | |
| X | g.100407027T>G | CA414002436 | PCDH19 | c.1571A>C (p.Glu524Ala) | |
| X | g.100407028C>A | CA414002437 | PCDH19 | c.1570G>T (p.Glu524Ter) | |
| X | g.100407028C>G | CA414002438 | PCDH19 | c.1570G>C (p.Glu524Gln) | |
| X | g.100407028C>T | CA414002439 | PCDH19 | c.1570G>A (p.Glu524Lys) | |
| X | g.100407029G>A | CA10468868 | PCDH19 | c.1569C>T (p.His523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407029G>C | CA414002440 | PCDH19 | c.1569C>G (p.His523Gln) | |
| X | g.100407029G= | CA2447976561 | PCDH19 | c.1569C= (p.His523=) | |
| X | g.100407029G>T | CA414002441 | PCDH19 | c.1569C>A (p.His523Gln) | ClinVar |
| X | g.100407030T>A | CA414002442 | PCDH19 | c.1568A>T (p.His523Leu) | |
| X | g.100407030T>C | CA414002443 | PCDH19 | c.1568A>G (p.His523Arg) | COSMIC COSMIC |
| X | g.100407030T>G | CA414002444 | PCDH19 | c.1568A>C (p.His523Pro) | ClinVar dbSNP |
| X | g.100407030T= | CA2447976562 | PCDH19 | c.1568A= (p.His523=) | |
| X | g.100407031G>A | CA414002446 | PCDH19 | c.1567C>T (p.His523Tyr) | |
| X | g.100407031G>C | CA414002447 | PCDH19 | c.1567C>G (p.His523Asp) | |
| X | g.100407031G>T | CA414002445 | PCDH19 | c.1567C>A (p.His523Asn) | |
| X | g.100407032G>A | CA517747993 | PCDH19 | c.1566C>T (p.Asn522=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407032G>C | CA414002448 | PCDH19 | c.1566C>G (p.Asn522Lys) | |
| X | g.100407032G= | CA2447976563 | PCDH19 | c.1566C= (p.Asn522=) | |
| X | g.100407032G>T | CA414002449 | PCDH19 | c.1566C>A (p.Asn522Lys) | |
| X | g.100407033T>A | CA414002450 | PCDH19 | c.1565A>T (p.Asn522Ile) | COSMIC COSMIC |
| X | g.100407033T>C | CA414002451 | PCDH19 | c.1565A>G (p.Asn522Ser) | gnomAD v4 |
| X | g.100407033T>G | CA414002452 | PCDH19 | c.1565A>C (p.Asn522Thr) | |
| X | g.100407034del | CA2499226253 | PCDH19 | c.1565del (p.Asn522ThrfsTer?) | ClinVar dbSNP |
| X | g.100407034T>A | CA414002453 | PCDH19 | c.1564A>T (p.Asn522Tyr) | |
| X | g.100407034T>C | CA414002454 | PCDH19 | c.1564A>G (p.Asn522Asp) | |
| X | g.100407034T>G | CA414002455 | PCDH19 | c.1564A>C (p.Asn522His) | |
| X | g.100407035A>C | CA414002456 | PCDH19 | c.1563T>G (p.Phe521Leu) | |
| X | g.100407035A>G | CA517747996 | PCDH19 | c.1563T>C (p.Phe521=) | gnomAD v4 |
| X | g.100407035A>T | CA414002457 | PCDH19 | c.1563T>A (p.Phe521Leu) | |
| X | g.100407036A>C | CA414002458 | PCDH19 | c.1562T>G (p.Phe521Cys) | |
| X | g.100407036A>G | CA414002459 | PCDH19 | c.1562T>C (p.Phe521Ser) | |
| X | g.100407036A>T | CA414002460 | PCDH19 | c.1562T>A (p.Phe521Tyr) | |
| X | g.100407037A>C | CA414002463 | PCDH19 | c.1561T>G (p.Phe521Val) | |
| X | g.100407037A>G | CA414002462 | PCDH19 | c.1561T>C (p.Phe521Leu) | |
| X | g.100407037A>T | CA414002461 | PCDH19 | c.1561T>A (p.Phe521Ile) | |
| X | g.100407038G>A | CA517747999 | PCDH19 | c.1560C>T (p.Ser520=) | |
| X | g.100407038G>C | CA517748001 | PCDH19 | c.1560C>G (p.Ser520=) | |
| X | g.100407038G>T | CA517748005 | PCDH19 | c.1560C>A (p.Ser520=) | |
| X | g.100407039G>A | CA414002464 | PCDH19 | c.1559C>T (p.Ser520Phe) | |
| X | g.100407039G>C | CA414002465 | PCDH19 | c.1559C>G (p.Ser520Cys) | |
| X | g.100407039G>T | CA414002466 | PCDH19 | c.1559C>A (p.Ser520Tyr) | COSMIC COSMIC |
| X | g.100407040A>C | CA414002467 | PCDH19 | c.1558T>G (p.Ser520Ala) | |
| X | g.100407040A>G | CA414002468 | PCDH19 | c.1558T>C (p.Ser520Pro) | |
| X | g.100407040A>T | CA414002469 | PCDH19 | c.1558T>A (p.Ser520Thr) | |
| X | g.100407041T>A | CA517748009 | PCDH19 | c.1557A>T (p.Arg519=) | |
| X | g.100407041T>C | CA517748010 | PCDH19 | c.1557A>G (p.Arg519=) | |
| X | g.100407041T>G | CA517748011 | PCDH19 | c.1557A>C (p.Arg519=) | |
| X | g.100407042del | CA2573055041 | PCDH19 | c.1556del (p.Arg519HisfsTer?) | ClinVar dbSNP |
| X | g.100407042C>A | CA414002470 | PCDH19 | c.1556G>T (p.Arg519Leu) | |
| X | g.100407042C>G | CA414002471 | PCDH19 | c.1556G>C (p.Arg519Pro) | |
| X | g.100407042C>T | CA414002472 | PCDH19 | c.1556G>A (p.Arg519Gln) | COSMIC COSMIC |
| X | g.100407043G>A | CA414002473 | PCDH19 | c.1555C>T (p.Arg519Ter) | ClinVar dbSNP |
| X | g.100407043G>C | CA414002474 | PCDH19 | c.1555C>G (p.Arg519Gly) | |
| X | g.100407043G= | CA2447976564 | PCDH19 | c.1555C= (p.Arg519=) | |
| X | g.100407043G>T | CA517748016 | PCDH19 | c.1555C>A (p.Arg519=) | |
| X | g.100407043_100407093delinsGCAGCGCGTAGATGTCGCCTGAGTTGGGATTGATGGAGACATAGGTGAAGA | CA2447976565 | PCDH19 | c.1505_1555delinsTCTTCACCTATGTCTCCATCAATCCCAACTCAGGCGACATCTACGCGCTGC (p.Val502=) | |
| X | g.100407044C>A | CA517748017 | PCDH19 | c.1554G>T (p.Leu518=) | |
| X | g.100407044C>G | CA517748018 | PCDH19 | c.1554G>C (p.Leu518=) | |
| X | g.100407044C>T | CA517748019 | PCDH19 | c.1554G>A (p.Leu518=) | |
| X | g.100407047_100407096del | CA1139667039 | PCDH19 | c.1505_1554del (p.Val502AlafsTer4) | ClinVar dbSNP |
| X | g.100407045A>C | CA414002475 | PCDH19 | c.1553T>G (p.Leu518Arg) | |
| X | g.100407045A>G | CA414002476 | PCDH19 | c.1553T>C (p.Leu518Pro) | COSMIC COSMIC |
| X | g.100407045A>T | CA414002477 | PCDH19 | c.1553T>A (p.Leu518Gln) | |
| X | g.100407046G>A | CA517748022 | PCDH19 | c.1552C>T (p.Leu518=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407046G>C | CA414002479 | PCDH19 | c.1552C>G (p.Leu518Val) | dbSNP |
| X | g.100407046G= | CA2447976566 | PCDH19 | c.1552C= (p.Leu518=) | |
| X | g.100407046G>T | CA414002478 | PCDH19 | c.1552C>A (p.Leu518Met) | |
| X | g.100407047C>A | CA517748024 | PCDH19 | c.1551G>T (p.Ala517=) | |
| X | g.100407047C= | CA2447976567 | PCDH19 | c.1551G= (p.Ala517=) | |
| X | g.100407047C>G | CA517748025 | PCDH19 | c.1551G>C (p.Ala517=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407047C>T | CA517748026 | PCDH19 | c.1551G>A (p.Ala517=) | |
| X | g.100407048G>A | CA10468869 | PCDH19 | c.1550C>T (p.Ala517Val) | dbSNP ExAC COSMIC COSMIC |
| X | g.100407048G>C | CA414002480 | PCDH19 | c.1550C>G (p.Ala517Gly) | |
| X | g.100407048G= | CA2447976568 | PCDH19 | c.1550C= (p.Ala517=) | |
| X | g.100407048G>T | CA414002481 | PCDH19 | c.1550C>A (p.Ala517Glu) | |
| X | g.100407049C>A | CA414002482 | PCDH19 | c.1549G>T (p.Ala517Ser) | |
| X | g.100407049C= | CA2447976569 | PCDH19 | c.1549G= (p.Ala517=) | |
| X | g.100407049C>G | CA414002483 | PCDH19 | c.1549G>C (p.Ala517Pro) | |
| X | g.100407049C>T | CA10468870 | PCDH19 | c.1549G>A (p.Ala517Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407050G>A | CA172941 | PCDH19 | c.1548C>T (p.Tyr516=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407050G>C | CA414002486 | PCDH19 | c.1548C>G (p.Tyr516Ter) | |
| X | g.100407050G= | CA2447976570 | PCDH19 | c.1548C= (p.Tyr516=) | |
| X | g.100407050G>T | CA414002485 | PCDH19 | c.1548C>A (p.Tyr516Ter) | ClinVar dbSNP COSMIC COSMIC |
| X | g.100407051T>A | CA414002487 | PCDH19 | c.1547A>T (p.Tyr516Phe) | |
| X | g.100407051T>C | CA414002488 | PCDH19 | c.1547A>G (p.Tyr516Cys) | |
| X | g.100407051T>G | CA414002489 | PCDH19 | c.1547A>C (p.Tyr516Ser) | |
| X | g.100407052A>C | CA414002490 | PCDH19 | c.1546T>G (p.Tyr516Asp) | |
| X | g.100407052A>G | CA414002491 | PCDH19 | c.1546T>C (p.Tyr516His) | |
| X | g.100407052A>T | CA414002492 | PCDH19 | c.1546T>A (p.Tyr516Asn) | |
| X | g.100407053G>A | CA517748038 | PCDH19 | c.1545C>T (p.Ile515=) | gnomAD v4 |
| X | g.100407053G>C | CA414002493 | PCDH19 | c.1545C>G (p.Ile515Met) | |
| X | g.100407053G>T | CA517748041 | PCDH19 | c.1545C>A (p.Ile515=) | COSMIC COSMIC |
| X | g.100407054A>C | CA414002494 | PCDH19 | c.1544T>G (p.Ile515Ser) | |
| X | g.100407054A>G | CA414002496 | PCDH19 | c.1544T>C (p.Ile515Thr) | |
| X | g.100407054A>T | CA414002495 | PCDH19 | c.1544T>A (p.Ile515Asn) | |
| X | g.100407055T>A | CA414002497 | PCDH19 | c.1543A>T (p.Ile515Phe) | dbSNP |
| X | g.100407055T>C | CA414002498 | PCDH19 | c.1543A>G (p.Ile515Val) | |
| X | g.100407055T>G | CA414002499 | PCDH19 | c.1543A>C (p.Ile515Leu) | |
| X | g.100407055T= | CA2447976571 | PCDH19 | c.1543A= (p.Ile515=) | |
| X | g.100407056G>A | CA517748047 | PCDH19 | c.1542C>T (p.Asp514=) | gnomAD v4 |
| X | g.100407056G>C | CA414002500 | PCDH19 | c.1542C>G (p.Asp514Glu) | |
| X | g.100407056G>T | CA414002501 | PCDH19 | c.1542C>A (p.Asp514Glu) | |
| X | g.100407057T>A | CA414002502 | PCDH19 | c.1541A>T (p.Asp514Val) | |
| X | g.100407057T>C | CA414002503 | PCDH19 | c.1541A>G (p.Asp514Gly) | |
| X | g.100407057T>G | CA414002504 | PCDH19 | c.1541A>C (p.Asp514Ala) | |
| X | g.100407058C>A | CA414002505 | PCDH19 | c.1540G>T (p.Asp514Tyr) | |
| X | g.100407058C>G | CA414002506 | PCDH19 | c.1540G>C (p.Asp514His) | |
| X | g.100407058C>T | CA414002507 | PCDH19 | c.1540G>A (p.Asp514Asn) | COSMIC |
| X | g.100407059G>A | CA517748052 | PCDH19 | c.1539C>T (p.Gly513=) | dbSNP COSMIC COSMIC |
| X | g.100407059G>C | CA10468871 | PCDH19 | c.1539C>G (p.Gly513=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407059G= | CA2447976572 | PCDH19 | c.1539C= (p.Gly513=) | |
| X | g.100407059G>T | CA517748053 | PCDH19 | c.1539C>A (p.Gly513=) | |
| X | g.100407060C>A | CA414002510 | PCDH19 | c.1538G>T (p.Gly513Val) | ClinVar dbSNP COSMIC COSMIC |
| X | g.100407060C= | CA2447976573 | PCDH19 | c.1538G= (p.Gly513=) | |
| X | g.100407060C>G | CA414002508 | PCDH19 | c.1538G>C (p.Gly513Ala) | COSMIC COSMIC |
| X | g.100407060C>T | CA414002509 | PCDH19 | c.1538G>A (p.Gly513Asp) | ClinVar dbSNP |
| X | g.100407061del | CA2739273663 | PCDH19 | c.1538del (p.Gly513AlafsTer?) | ClinVar |
| X | g.100407061C>A | CA414002511 | PCDH19 | c.1537G>T (p.Gly513Cys) | |
| X | g.100407061C>G | CA414002512 | PCDH19 | c.1537G>C (p.Gly513Arg) | |
| X | g.100407061C>T | CA414002513 | PCDH19 | c.1537G>A (p.Gly513Ser) | |
| X | g.100407062T>A | CA517748059 | PCDH19 | c.1536A>T (p.Ser512=) | ClinVar |
| X | g.100407062T>C | CA517748061 | PCDH19 | c.1536A>G (p.Ser512=) | dbSNP |
| X | g.100407062T>G | CA517748060 | PCDH19 | c.1536A>C (p.Ser512=) | |
| X | g.100407063G>A | CA10468872 | PCDH19 | c.1535C>T (p.Ser512Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| X | g.100407063G>C | CA414002514 | PCDH19 | c.1535C>G (p.Ser512Ter) | |
| X | g.100407063G= | CA2447976574 | PCDH19 | c.1535C= (p.Ser512=) | |
| X | g.100407063G>T | CA414002515 | PCDH19 | c.1535C>A (p.Ser512Ter) | ClinVar dbSNP |
| X | g.100407064A>C | CA414002518 | PCDH19 | c.1534T>G (p.Ser512Ala) | |
| X | g.100407064A>G | CA414002517 | PCDH19 | c.1534T>C (p.Ser512Pro) | |
| X | g.100407064A>T | CA414002516 | PCDH19 | c.1534T>A (p.Ser512Thr) | gnomAD v4 |
| X | g.100407065G>A | CA10468873 | PCDH19 | c.1533C>T (p.Asn511=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407065G>C | CA414002519 | PCDH19 | c.1533C>G (p.Asn511Lys) | |
| X | g.100407065G= | CA2447976575 | PCDH19 | c.1533C= (p.Asn511=) | |
| X | g.100407065G>T | CA414002520 | PCDH19 | c.1533C>A (p.Asn511Lys) | |
| X | g.100407066T>A | CA414002521 | PCDH19 | c.1532A>T (p.Asn511Ile) | |
| X | g.100407066T>C | CA10468874 | PCDH19 | c.1532A>G (p.Asn511Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407066T>G | CA414002522 | PCDH19 | c.1532A>C (p.Asn511Thr) | |
| X | g.100407066T= | CA2447976576 | PCDH19 | c.1532A= (p.Asn511=) | |
| X | g.100407067T>A | CA414002523 | PCDH19 | c.1531A>T (p.Asn511Tyr) | |
| X | g.100407067T>C | CA414002525 | PCDH19 | c.1531A>G (p.Asn511Asp) | |
| X | g.100407067T>G | CA414002524 | PCDH19 | c.1531A>C (p.Asn511His) | |
| X | g.100407068G>A | CA517748075 | PCDH19 | c.1530C>T (p.Pro510=) | gnomAD v4 |
| X | g.100407068G>C | CA517748080 | PCDH19 | c.1530C>G (p.Pro510=) | |
| X | g.100407068G>T | CA517748077 | PCDH19 | c.1530C>A (p.Pro510=) | |
| X | g.100407068_100407069delinsAA | CA645609349 | PCDH19 | c.1529_1530delinsTT (p.Pro510Leu) | COSMIC COSMIC |
| X | g.100407069G>A | CA414002526 | PCDH19 | c.1529C>T (p.Pro510Leu) | |
| X | g.100407069G>C | CA414002527 | PCDH19 | c.1529C>G (p.Pro510Arg) | |
| X | g.100407069G>T | CA414002528 | PCDH19 | c.1529C>A (p.Pro510His) | |
| X | g.100407070G>A | CA414002529 | PCDH19 | c.1528C>T (p.Pro510Ser) | |
| X | g.100407070G>C | CA414002530 | PCDH19 | c.1528C>G (p.Pro510Ala) | |
| X | g.100407070G>T | CA414002531 | PCDH19 | c.1528C>A (p.Pro510Thr) | |
| X | g.100407071_100407077del | CA2695235310 | PCDH19 | c.1522_1528del (p.Ile508ProfsTer?) | |
| X | g.100407071A>C | CA414002532 | PCDH19 | c.1527T>G (p.Asn509Lys) | |
| X | g.100407071A>G | CA517748084 | PCDH19 | c.1527T>C (p.Asn509=) | |
| X | g.100407071A>T | CA414002533 | PCDH19 | c.1527T>A (p.Asn509Lys) |