Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.100399186_100406943delCA891843591PCDH19c.1657_2475+3340del
c.1657_2616+3340del
ClinVar
Xg.100406541_100407019delinsGCAGAGACA2580100061PCDH19c.1579_2057delinsTCTCTGC (p.Lys527SerfsTer11)
ClinVar
Xg.100406905_100406918delCA316405PCDH19c.1683_1696del (p.Val562ThrfsTer4)
ClinVar dbSNP
Xg.100406915_100406916delinsCGCA2447976514PCDH19c.1682_1683delinsCG (p.Pro561=)
Xg.100406916G>ACA414002193PCDH19c.1682C>T (p.Pro561Leu)
ClinVar dbSNP
Xg.100406916G>CCA316366PCDH19c.1682C>G (p.Pro561Arg)
ClinVar dbSNP
Xg.100406916G=CA2447976515PCDH19c.1682C= (p.Pro561=)
Xg.100406916G>TCA414002194PCDH19c.1682C>A (p.Pro561Gln)
Xg.100406919delCA915951268PCDH19c.1682del (p.Pro561ArgfsTer8)
ClinVar dbSNP
Xg.100406916_100406922delinsCGCACCCA2695235307PCDH19c.1676_1682delinsGGTGCG (p.Asn559ArgfsTer10)
Xg.100406917G>ACA414002195PCDH19c.1681C>T (p.Pro561Ser)
ClinVar dbSNP
Xg.100406917G>CCA414002196PCDH19c.1681C>G (p.Pro561Ala)
ClinVar dbSNP
Xg.100406917G=CA2447976516PCDH19c.1681C= (p.Pro561=)
Xg.100406917G>TCA414002197PCDH19c.1681C>A (p.Pro561Thr)
Xg.100406918G>ACA517747607PCDH19c.1680C>T (p.Thr560=)
gnomAD v4
Xg.100406918G>CCA517747609PCDH19c.1680C>G (p.Thr560=)
gnomAD v4
Xg.100406918G>TCA517747611PCDH19c.1680C>A (p.Thr560=)
Xg.100406919G>ACA414002198PCDH19c.1679C>T (p.Thr560Ile)
COSMIC COSMIC
Xg.100406919G>CCA414002199PCDH19c.1679C>G (p.Thr560Ser)
Xg.100406919G>TCA414002200PCDH19c.1679C>A (p.Thr560Asn)
Xg.100406921_100406922delCA913184428PCDH19c.1678_1679del (p.Thr560ProfsTer10)
Xg.100406920T>ACA414002201PCDH19c.1678A>T (p.Thr560Ser)
dbSNP
Xg.100406920T>CCA414002203PCDH19c.1678A>G (p.Thr560Ala)
Xg.100406920T>GCA414002202PCDH19c.1678A>C (p.Thr560Pro)
dbSNP
Xg.100406920T=CA2447976517PCDH19c.1678A= (p.Thr560=)
Xg.100406921G>ACA517747613PCDH19c.1677C>T (p.Asn559=)
Xg.100406921G>CCA414002204PCDH19c.1677C>G (p.Asn559Lys)
Xg.100406921G>TCA414002205PCDH19c.1677C>A (p.Asn559Lys)
Xg.100406921_100406922delinsGTCA2447976518PCDH19c.1676_1677delinsAC (p.Asn559=)
Xg.100406922T>ACA414002206PCDH19c.1676A>T (p.Asn559Ile)
Xg.100406922T>CCA414002207PCDH19c.1676A>G (p.Asn559Ser)
Xg.100406922T>GCA414002208PCDH19c.1676A>C (p.Asn559Thr)
Xg.100406923delCA658824637PCDH19c.1676del (p.Asn559ThrfsTer10)
ClinVar dbSNP
Xg.100406923T>ACA414002209PCDH19c.1675A>T (p.Asn559Tyr)
Xg.100406923T>CCA414002210PCDH19c.1675A>G (p.Asn559Asp)
ClinVar dbSNP
Xg.100406923T>GCA414002211PCDH19c.1675A>C (p.Asn559His)
Xg.100406924G>ACA517747616PCDH19c.1674C>T (p.Asp558=)
gnomAD v4
Xg.100406924G>CCA414002212PCDH19c.1674C>G (p.Asp558Glu)
Xg.100406924G>TCA414002213PCDH19c.1674C>A (p.Asp558Glu)
Xg.100406926_100406928delCA2694245852PCDH19c.1672_1674del (p.Asp558del)
gnomAD v4
Xg.100406925T>ACA414002216PCDH19c.1673A>T (p.Asp558Val)
gnomAD v4
Xg.100406925T>CCA414002215PCDH19c.1673A>G (p.Asp558Gly)
COSMIC COSMIC
Xg.100406925T>GCA414002214PCDH19c.1673A>C (p.Asp558Ala)
Xg.100406926C>ACA414002217PCDH19c.1672G>T (p.Asp558Tyr)
Xg.100406926C=CA2447976519PCDH19c.1672G= (p.Asp558=)
Xg.100406926C>GCA333826066PCDH19c.1672G>C (p.Asp558His)
ClinVar dbSNP gnomAD v4
Xg.100406926C>TCA10468854PCDH19c.1672G>A (p.Asp558Asn)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100406927delCA2499226252PCDH19c.1671del (p.Asn557LysfsTer12)
ClinVar dbSNP
Xg.100406927G>ACA517747623PCDH19c.1671C>T (p.Asn557=)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.100406927G>CCA121303PCDH19c.1671C>G (p.Asn557Lys)
ClinVar dbSNP
Xg.100406927G=CA2447976520PCDH19c.1671C= (p.Asn557=)
Xg.100406927G>TCA414002219PCDH19c.1671C>A (p.Asn557Lys)
ClinVar
Xg.100406928T>ACA414002220PCDH19c.1670A>T (p.Asn557Ile)
Xg.100406928T>CCA414002221PCDH19c.1670A>G (p.Asn557Ser)
ClinVar dbSNP
Xg.100406928T>GCA414002222PCDH19c.1670A>C (p.Asn557Thr)
Xg.100406928T=CA2447976521PCDH19c.1670A= (p.Asn557=)
Xg.100406929T>ACA414002223PCDH19c.1669A>T (p.Asn557Tyr)
Xg.100406929T>CCA414002224PCDH19c.1669A>G (p.Asn557Asp)
Xg.100406929T>GCA414002225PCDH19c.1669A>C (p.Asn557His)
Xg.100406930G>ACA517747628PCDH19c.1668C>T (p.Val556=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406930G>CCA517747630PCDH19c.1668C>G (p.Val556=)
Xg.100406930G=CA2447976522PCDH19c.1668C= (p.Val556=)
Xg.100406930G>TCA517747631PCDH19c.1668C>A (p.Val556=)
gnomAD v4
Xg.100406931A>CCA414002226PCDH19c.1667T>G (p.Val556Gly)
Xg.100406931A>GCA414002227PCDH19c.1667T>C (p.Val556Ala)
Xg.100406931A>TCA414002228PCDH19c.1667T>A (p.Val556Asp)
Xg.100406932C>ACA414002231PCDH19c.1666G>T (p.Val556Phe)
Xg.100406932C>GCA414002229PCDH19c.1666G>C (p.Val556Leu)
Xg.100406932C>TCA414002230PCDH19c.1666G>A (p.Val556Ile)
Xg.100406933G>ACA517747635PCDH19c.1665C>T (p.Asp555=)
gnomAD v4
Xg.100406933G>CCA414002232PCDH19c.1665C>G (p.Asp555Glu)
Xg.100406933G>TCA414002233PCDH19c.1665C>A (p.Asp555Glu)
Xg.100406934T>ACA414002234PCDH19c.1664A>T (p.Asp555Val)
Xg.100406934T>CCA414002235PCDH19c.1664A>G (p.Asp555Gly)
Xg.100406934T>GCA414002236PCDH19c.1664A>C (p.Asp555Ala)
Xg.100406935delCA2695235308PCDH19c.1663del (p.Asp555ThrfsTer14)
Xg.100406935C>ACA414002237PCDH19c.1663G>T (p.Asp555Tyr)
Xg.100406935C>GCA414002238PCDH19c.1663G>C (p.Asp555His)
Xg.100406935C>TCA414002239PCDH19c.1663G>A (p.Asp555Asn)
gnomAD v4 COSMIC COSMIC
Xg.100406936G>ACA10468855PCDH19c.1662C>T (p.Leu554=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.100406936G>CCA517747639PCDH19c.1662C>G (p.Leu554=)
ClinVar
Xg.100406936G=CA2447976523PCDH19c.1662C= (p.Leu554=)
Xg.100406936G>TCA517747640PCDH19c.1662C>A (p.Leu554=)
Xg.100406937A>CCA414002240PCDH19c.1661T>G (p.Leu554Arg)
Xg.100406937A>GCA414002241PCDH19c.1661T>C (p.Leu554Pro)
Xg.100406937A>TCA414002242PCDH19c.1661T>A (p.Leu554His)
Xg.100406938G>ACA10468856PCDH19c.1660C>T (p.Leu554Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406938G>CCA414002245PCDH19c.1660C>G (p.Leu554Val)
Xg.100406938G=CA2447976524PCDH19c.1660C= (p.Leu554=)
Xg.100406938G>TCA414002243PCDH19c.1660C>A (p.Leu554Ile)
Xg.100406938_100406941delinsGGATCA2447976525PCDH19c.1657_1660delinsATCC (p.Ile553=)
Xg.100406939G>ACA517747645PCDH19c.1659C>T (p.Ile553=)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.100406939G>CCA414002246PCDH19c.1659C>G (p.Ile553Met)
Xg.100406939G=CA2447976526PCDH19c.1659C= (p.Ile553=)
Xg.100406939G>TCA517747646PCDH19c.1659C>A (p.Ile553=)
Xg.100406944_100406946delCA1135787581PCDH19c.1657_1659del (p.Ile553del)
dbSNP gnomAD v3 gnomAD v4
Xg.100406940A>CCA414002248PCDH19c.1658T>G (p.Ile553Ser)
Xg.100406940A>GCA414002247PCDH19c.1658T>C (p.Ile553Thr)
Xg.100406940A>TCA414002249PCDH19c.1658T>A (p.Ile553Asn)
Xg.100406941T>ACA414002250PCDH19c.1657A>T (p.Ile553Phe)
Xg.100406941T>CCA316363PCDH19c.1657A>G (p.Ile553Val)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406941T>GCA414002251PCDH19c.1657A>C (p.Ile553Leu)
Xg.100406941T=CA2447976527PCDH19c.1657A= (p.Ile553=)
Xg.100406942G>ACA517747653PCDH19c.1656C>T (p.Ile552=)
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.100406942G>CCA10468857PCDH19c.1656C>G (p.Ile552Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406942G=CA2447976528PCDH19c.1656C= (p.Ile552=)
Xg.100406942G>TCA517747655PCDH19c.1656C>A (p.Ile552=)
Xg.100406943A>CCA414002252PCDH19c.1655T>G (p.Ile552Ser)
Xg.100406943A>GCA414002253PCDH19c.1655T>C (p.Ile552Thr)
Xg.100406943A>TCA414002254PCDH19c.1655T>A (p.Ile552Asn)
Xg.100406944T>ACA414002255PCDH19c.1654A>T (p.Ile552Phe)
Xg.100406944T>CCA414002256PCDH19c.1654A>G (p.Ile552Val)
Xg.100406944T>GCA414002257PCDH19c.1654A>C (p.Ile552Leu)
Xg.100406945G>ACA517747660PCDH19c.1653C>T (p.Val551=)
Xg.100406945G>CCA517747662PCDH19c.1653C>G (p.Val551=)
Xg.100406945G>TCA517747664PCDH19c.1653C>A (p.Val551=)
gnomAD v4
Xg.100406946A=CA2447976529PCDH19c.1652T= (p.Val551=)
Xg.100406946A>CCA414002258PCDH19c.1652T>G (p.Val551Gly)
Xg.100406946A>GCA414002259PCDH19c.1652T>C (p.Val551Ala)
ClinVar dbSNP COSMIC COSMIC
Xg.100406946A>TCA414002260PCDH19c.1652T>A (p.Val551Asp)
ClinVar dbSNP
Xg.100406947C>ACA414002262PCDH19c.1651G>T (p.Val551Phe)
Xg.100406947C=CA2447976530PCDH19c.1651G= (p.Val551=)
Xg.100406947C>GCA414002261PCDH19c.1651G>C (p.Val551Leu)
Xg.100406947C>TCA10468858PCDH19c.1651G>A (p.Val551Ile)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100406948C>ACA517747667PCDH19c.1650G>T (p.Arg550=)
Xg.100406948C=CA2447976531PCDH19c.1650G= (p.Arg550=)
Xg.100406948C>GCA517747669PCDH19c.1650G>C (p.Arg550=)
Xg.100406948C>TCA10468859PCDH19c.1650G>A (p.Arg550=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100406949C>ACA414002263PCDH19c.1649G>T (p.Arg550Leu)
dbSNP gnomAD v3 gnomAD v4
Xg.100406949C=CA2447976532PCDH19c.1649G= (p.Arg550=)
Xg.100406949C>GCA414002264PCDH19c.1649G>C (p.Arg550Pro)
Xg.100406949C>TCA10468860PCDH19c.1649G>A (p.Arg550Gln)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.100406950G>ACA414002265PCDH19c.1648C>T (p.Arg550Trp)
dbSNP gnomAD v3 gnomAD v4
Xg.100406950G>CCA414002266PCDH19c.1648C>G (p.Arg550Gly)
Xg.100406950G=CA2447976533PCDH19c.1648C= (p.Arg550=)
Xg.100406950G>TCA517747670PCDH19c.1648C>A (p.Arg550=)
Xg.100406951C>ACA517747671PCDH19c.1647G>T (p.Val549=)
Xg.100406951C>GCA517747673PCDH19c.1647G>C (p.Val549=)
Xg.100406951C>TCA517747674PCDH19c.1647G>A (p.Val549=)
Xg.100406952A=CA2447976534PCDH19c.1646T= (p.Val549=)
Xg.100406952A>CCA414002267PCDH19c.1646T>G (p.Val549Gly)
Xg.100406952A>GCA414002268PCDH19c.1646T>C (p.Val549Ala)
Xg.100406952A>TCA414002269PCDH19c.1646T>A (p.Val549Glu)
Xg.100406953C>ACA414002270PCDH19c.1645G>T (p.Val549Leu)
Xg.100406953C>GCA414002271PCDH19c.1645G>C (p.Val549Leu)
Xg.100406953C>TCA414002272PCDH19c.1645G>A (p.Val549Met)
Xg.100406954dupCA916083979PCDH19c.1645dup (p.Val549GlyfsTer22)
ClinVar dbSNP
Xg.100406954C>ACA517747678PCDH19c.1644G>T (p.Thr548=)
Xg.100406954C=CA2447976535PCDH19c.1644G= (p.Thr548=)
Xg.100406954C>GCA10468861PCDH19c.1644G>C (p.Thr548=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100406954C>TCA292701PCDH19c.1644G>A (p.Thr548=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406955G>ACA414002273PCDH19c.1643C>T (p.Thr548Met)
ClinVar dbSNP gnomAD v4
Xg.100406955G>CCA10468862PCDH19c.1643C>G (p.Thr548Arg)
dbSNP ExAC gnomAD v4
Xg.100406955G=CA2447976536PCDH19c.1643C= (p.Thr548=)
Xg.100406955G>TCA414002274PCDH19c.1643C>A (p.Thr548Lys)
Xg.100406956T>ACA414002275PCDH19c.1642A>T (p.Thr548Ser)
Xg.100406956T>CCA333826067PCDH19c.1642A>G (p.Thr548Ala)
dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
Xg.100406956T>GCA414002276PCDH19c.1642A>C (p.Thr548Pro)
Xg.100406956T=CA2447976537PCDH19c.1642A= (p.Thr548=)
Xg.100406957A>CCA517747688PCDH19c.1641T>G (p.Ala547=)
Xg.100406957A>GCA517747686PCDH19c.1641T>C (p.Ala547=)
ClinVar dbSNP
Xg.100406957A>TCA517747684PCDH19c.1641T>A (p.Ala547=)
Xg.100406957_100406958delinsAGCA2447976538PCDH19c.1640_1641delinsCT (p.Ala547=)
Xg.100406958G>ACA414002279PCDH19c.1640C>T (p.Ala547Val)
Xg.100406958G>CCA414002277PCDH19c.1640C>G (p.Ala547Gly)
Xg.100406958G>TCA414002278PCDH19c.1640C>A (p.Ala547Asp)
Xg.100406958delinsTACA1139667038PCDH19c.1640delinsTA (p.Ala547ValfsTer24)
ClinVar dbSNP
Xg.100406958_100406959delinsAACA2447976540PCDH19c.1639_1640delinsTT (p.Ala547Phe)
ClinVar dbSNP
Xg.100406958_100406959delinsGCCA2447976539PCDH19c.1639_1640delinsGC (p.Ala547=)
Xg.100406959C>ACA414002280PCDH19c.1639G>T (p.Ala547Ser)
Xg.100406959C=CA2447976541PCDH19c.1639G= (p.Ala547=)
Xg.100406959C>GCA414002281PCDH19c.1639G>C (p.Ala547Pro)
ClinVar dbSNP
Xg.100406959C>TCA414002282PCDH19c.1639G>A (p.Ala547Thr)
Xg.100406960G>ACA517747690PCDH19c.1638C>T (p.Asn546=)
gnomAD v4
Xg.100406960G>CCA414002283PCDH19c.1638C>G (p.Asn546Lys)
Xg.100406960G>TCA414002284PCDH19c.1638C>A (p.Asn546Lys)
Xg.100406961T>ACA414002285PCDH19c.1637A>T (p.Asn546Ile)
Xg.100406961T>CCA414002287PCDH19c.1637A>G (p.Asn546Ser)
Xg.100406961T>GCA414002286PCDH19c.1637A>C (p.Asn546Thr)
Xg.100406962T>ACA414002288PCDH19c.1636A>T (p.Asn546Tyr)
Xg.100406962T>CCA414002289PCDH19c.1636A>G (p.Asn546Asp)
Xg.100406962T>GCA414002290PCDH19c.1636A>C (p.Asn546His)
Xg.100406963G>ACA517747693PCDH19c.1635C>T (p.Ser545=)
Xg.100406963G>CCA414002291PCDH19c.1635C>G (p.Ser545Arg)
Xg.100406963G>TCA414002292PCDH19c.1635C>A (p.Ser545Arg)
Xg.100406964C>ACA414002293PCDH19c.1634G>T (p.Ser545Ile)
Xg.100406964C>GCA414002294PCDH19c.1634G>C (p.Ser545Thr)
COSMIC COSMIC
Xg.100406964C>TCA414002295PCDH19c.1634G>A (p.Ser545Asn)
Xg.100406965T>ACA414002296PCDH19c.1633A>T (p.Ser545Cys)
Xg.100406965T>CCA414002297PCDH19c.1633A>G (p.Ser545Gly)
Xg.100406965T>GCA414002298PCDH19c.1633A>C (p.Ser545Arg)
Xg.100406966T>ACA414002299PCDH19c.1632A>T (p.Gln544His)
Xg.100406966T>CCA517747697PCDH19c.1632A>G (p.Gln544=)
Xg.100406966T>GCA414002300PCDH19c.1632A>C (p.Gln544His)
Xg.100406967T>ACA414002301PCDH19c.1631A>T (p.Gln544Leu)
Xg.100406967T>CCA414002303PCDH19c.1631A>G (p.Gln544Arg)
Xg.100406967T>GCA414002302PCDH19c.1631A>C (p.Gln544Pro)
Xg.100406968G>ACA414002304PCDH19c.1630C>T (p.Gln544Ter)
Xg.100406968G>CCA414002305PCDH19c.1630C>G (p.Gln544Glu)
Xg.100406968G>TCA414002306PCDH19c.1630C>A (p.Gln544Lys)
Xg.100406969C>ACA517747702PCDH19c.1629G>T (p.Leu543=)
Xg.100406969C>GCA517747703PCDH19c.1629G>C (p.Leu543=)
Xg.100406969C>TCA517747704PCDH19c.1629G>A (p.Leu543=)
Xg.100406970A>CCA414002307PCDH19c.1628T>G (p.Leu543Arg)
Xg.100406970A>GCA414002308PCDH19c.1628T>C (p.Leu543Pro)
ClinVar
Xg.100406970A>TCA414002309PCDH19c.1628T>A (p.Leu543Gln)
gnomAD v4
Xg.100406971G>ACA147192PCDH19c.1627C>T (p.Leu543=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406971G>CCA414002310PCDH19c.1627C>G (p.Leu543Val)
Xg.100406971G=CA2447976542PCDH19c.1627C= (p.Leu543=)
Xg.100406971G>TCA414002311PCDH19c.1627C>A (p.Leu543Met)
Xg.100406972T>ACA517747707PCDH19c.1626A>T (p.Ser542=)
Xg.100406972T>CCA517747709PCDH19c.1626A>G (p.Ser542=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406972T>GCA517747711PCDH19c.1626A>C (p.Ser542=)
Xg.100406972T=CA2447976543PCDH19c.1626A= (p.Ser542=)
Xg.100406973G>ACA414002312PCDH19c.1625C>T (p.Ser542Leu)
Xg.100406973G>CCA316360PCDH19c.1625C>G (p.Ser542Ter)
ClinVar dbSNP
Xg.100406973G=CA2447976544PCDH19c.1625C= (p.Ser542=)
Xg.100406973G>TCA414002313PCDH19c.1625C>A (p.Ser542Ter)
Xg.100406974A>CCA414002314PCDH19c.1624T>G (p.Ser542Ala)
Xg.100406974A>GCA414002316PCDH19c.1624T>C (p.Ser542Pro)
Xg.100406974A>TCA414002315PCDH19c.1624T>A (p.Ser542Thr)
Xg.100406974_100406975delinsAGCA2447976545PCDH19c.1623_1624delinsCT (p.Pro541=)
Xg.100406975G>ACA517747714PCDH19c.1623C>T (p.Pro541=)
Xg.100406975G>CCA10468863PCDH19c.1623C>G (p.Pro541=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406975G=CA2447976546PCDH19c.1623C= (p.Pro541=)
Xg.100406975G>TCA517747713PCDH19c.1623C>A (p.Pro541=)
Xg.100406977delCA915951269PCDH19c.1623del (p.Ser542HisfsTer27)
ClinVar dbSNP
Xg.100406976G>ACA414002317PCDH19c.1622C>T (p.Pro541Leu)
Xg.100406976G>CCA414002318PCDH19c.1622C>G (p.Pro541Arg)
Xg.100406976G>TCA414002319PCDH19c.1622C>A (p.Pro541His)
Xg.100406977G>ACA414002320PCDH19c.1621C>T (p.Pro541Ser)
COSMIC COSMIC
Xg.100406977G>CCA414002321PCDH19c.1621C>G (p.Pro541Ala)
Xg.100406977G>TCA414002322PCDH19c.1621C>A (p.Pro541Thr)
Xg.100406978A>CCA517747719PCDH19c.1620T>G (p.Leu540=)
Xg.100406978A>GCA517747720PCDH19c.1620T>C (p.Leu540=)
ClinVar gnomAD v4
Xg.100406978A>TCA517747721PCDH19c.1620T>A (p.Leu540=)
Xg.100406979A>CCA414002323PCDH19c.1619T>G (p.Leu540Arg)
Xg.100406979A>GCA414002324PCDH19c.1619T>C (p.Leu540Pro)
Xg.100406979A>TCA414002325PCDH19c.1619T>A (p.Leu540His)
Xg.100406980G>ACA316357PCDH19c.1618C>T (p.Leu540Phe)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406980G>CCA414002327PCDH19c.1618C>G (p.Leu540Val)
Xg.100406980G=CA2447976547PCDH19c.1618C= (p.Leu540=)
Xg.100406980G>TCA414002326PCDH19c.1618C>A (p.Leu540Ile)
Xg.100406981G>ACA517747728PCDH19c.1617C>T (p.Gly539=)
gnomAD v4
Xg.100406981G>CCA517747726PCDH19c.1617C>G (p.Gly539=)
gnomAD v4
Xg.100406981G>TCA517747727PCDH19c.1617C>A (p.Gly539=)
Xg.100406982C>ACA414002328PCDH19c.1616G>T (p.Gly539Val)
Xg.100406982C=CA2447976548PCDH19c.1616G= (p.Gly539=)
Xg.100406982C>GCA414002329PCDH19c.1616G>C (p.Gly539Ala)
Xg.100406982C>TCA414002330PCDH19c.1616G>A (p.Gly539Asp)
dbSNP
Xg.100406983C>ACA414002331PCDH19c.1615G>T (p.Gly539Cys)
Xg.100406983C>GCA414002332PCDH19c.1615G>C (p.Gly539Arg)
Xg.100406983C>TCA414002333PCDH19c.1615G>A (p.Gly539Ser)
COSMIC COSMIC
Xg.100406984G>ACA517747731PCDH19c.1614C>T (p.Gly538=)
dbSNP
Xg.100406984G>CCA517747732PCDH19c.1614C>G (p.Gly538=)
Xg.100406984G=CA2447976549PCDH19c.1614C= (p.Gly538=)
Xg.100406984G>TCA517747733PCDH19c.1614C>A (p.Gly538=)
Xg.100406985C>ACA414002334PCDH19c.1613G>T (p.Gly538Val)
Xg.100406985C>GCA414002335PCDH19c.1613G>C (p.Gly538Ala)
Xg.100406985C>TCA414002336PCDH19c.1613G>A (p.Gly538Asp)
ClinVar COSMIC COSMIC
Xg.100406986C>ACA414002337PCDH19c.1612G>T (p.Gly538Cys)
Xg.100406986C=CA2447976550PCDH19c.1612G= (p.Gly538=)
Xg.100406986C>GCA414002338PCDH19c.1612G>C (p.Gly538Arg)
Xg.100406986C>TCA414002339PCDH19c.1612G>A (p.Gly538Ser)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.100406986_100406993delCA2695235309PCDH19c.1605_1612del (p.Lys536ArgfsTer?)
Xg.100406987G>ACA10468864PCDH19c.1611C>T (p.Asp537=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100406987G>CCA414002341PCDH19c.1611C>G (p.Asp537Glu)
Xg.100406987G=CA2447976551PCDH19c.1611C= (p.Asp537=)
Xg.100406987G>TCA414002340PCDH19c.1611C>A (p.Asp537Glu)
ClinVar dbSNP
Xg.100406988T>ACA414002342PCDH19c.1610A>T (p.Asp537Val)
Xg.100406988T>CCA414002343PCDH19c.1610A>G (p.Asp537Gly)
Xg.100406988T>GCA414002344PCDH19c.1610A>C (p.Asp537Ala)
Xg.100406989C>ACA414002345PCDH19c.1609G>T (p.Asp537Tyr)
Xg.100406989C>GCA414002346PCDH19c.1609G>C (p.Asp537His)
Xg.100406989C>TCA414002347PCDH19c.1609G>A (p.Asp537Asn)
Xg.100406990C>ACA414002348PCDH19c.1608G>T (p.Lys536Asn)
Xg.100406990C>GCA414002349PCDH19c.1608G>C (p.Lys536Asn)
Xg.100406990C>TCA517747746PCDH19c.1608G>A (p.Lys536=)
Xg.100406991T>ACA414002350PCDH19c.1607A>T (p.Lys536Met)
Xg.100406991T>CCA414002351PCDH19c.1607A>G (p.Lys536Arg)
Xg.100406991T>GCA414002352PCDH19c.1607A>C (p.Lys536Thr)
Xg.100406992T>ACA414002353PCDH19c.1606A>T (p.Lys536Ter)
Xg.100406992T>CCA414002354PCDH19c.1606A>G (p.Lys536Glu)
Xg.100406992T>GCA414002355PCDH19c.1606A>C (p.Lys536Gln)
Xg.100406993G>ACA10468865PCDH19c.1605C>T (p.Ala535=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.100406993G>CCA517747953PCDH19c.1605C>G (p.Ala535=)
Xg.100406993G=CA2447976552PCDH19c.1605C= (p.Ala535=)
Xg.100406993G>TCA517747954PCDH19c.1605C>A (p.Ala535=)
dbSNP
Xg.100406994G>ACA414002357PCDH19c.1604C>T (p.Ala535Val)
Xg.100406994G>CCA414002356PCDH19c.1604C>G (p.Ala535Gly)
Xg.100406994G>TCA414002358PCDH19c.1604C>A (p.Ala535Asp)
Xg.100406995C>ACA414002359PCDH19c.1603G>T (p.Ala535Ser)
Xg.100406995C>GCA414002361PCDH19c.1603G>C (p.Ala535Pro)
Xg.100406995C>TCA414002360PCDH19c.1603G>A (p.Ala535Thr)
Xg.100406996C>ACA517747958PCDH19c.1602G>T (p.Leu534=)
Xg.100406996C=CA2447976553PCDH19c.1602G= (p.Leu534=)
Xg.100406996C>GCA517747959PCDH19c.1602G>C (p.Leu534=)
Xg.100406996C>TCA10468866PCDH19c.1602G>A (p.Leu534=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406997A>CCA414002364PCDH19c.1601T>G (p.Leu534Arg)
Xg.100406997A>GCA414002362PCDH19c.1601T>C (p.Leu534Pro)
ClinVar
Xg.100406997A>TCA414002363PCDH19c.1601T>A (p.Leu534Gln)
Xg.100406998G>ACA517747960PCDH19c.1600C>T (p.Leu534=)
Xg.100406998G>CCA414002365PCDH19c.1600C>G (p.Leu534Val)
Xg.100406998G>TCA414002366PCDH19c.1600C>A (p.Leu534Met)
Xg.100406999C>ACA517747964PCDH19c.1599G>T (p.Val533=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.100406999C=CA2447976554PCDH19c.1599G= (p.Val533=)
Xg.100406999C>GCA517747965PCDH19c.1599G>C (p.Val533=)
Xg.100406999C>TCA517747966PCDH19c.1599G>A (p.Val533=)
Xg.100407000A>CCA414002367PCDH19c.1598T>G (p.Val533Gly)
Xg.100407000A>GCA414002368PCDH19c.1598T>C (p.Val533Ala)
gnomAD v4
Xg.100407000A>TCA414002369PCDH19c.1598T>A (p.Val533Glu)
Xg.100407001C>ACA414002370PCDH19c.1597G>T (p.Val533Leu)
Xg.100407001C>GCA414002371PCDH19c.1597G>C (p.Val533Leu)
Xg.100407001C>TCA414002372PCDH19c.1597G>A (p.Val533Met)
Xg.100407002C>ACA414002373PCDH19c.1596G>T (p.Lys532Asn)
Xg.100407002C=CA2447976555PCDH19c.1596G= (p.Lys532=)
Xg.100407002C>GCA414002374PCDH19c.1596G>C (p.Lys532Asn)
Xg.100407002C>TCA517747969PCDH19c.1596G>A (p.Lys532=)
dbSNP gnomAD v3 gnomAD v4
Xg.100407003T>ACA414002375PCDH19c.1595A>T (p.Lys532Met)
Xg.100407003T>CCA414002377PCDH19c.1595A>G (p.Lys532Arg)
gnomAD v4
Xg.100407003T>GCA414002376PCDH19c.1595A>C (p.Lys532Thr)
Xg.100407004T>ACA414002378PCDH19c.1594A>T (p.Lys532Ter)
Xg.100407004T>CCA414002379PCDH19c.1594A>G (p.Lys532Glu)
Xg.100407004T>GCA414002380PCDH19c.1594A>C (p.Lys532Gln)
Xg.100407005G>ACA10468867PCDH19c.1593C>T (p.Phe531=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.100407005G>CCA414002381PCDH19c.1593C>G (p.Phe531Leu)
dbSNP
Xg.100407005G=CA2447976556PCDH19c.1593C= (p.Phe531=)
Xg.100407005G>TCA333826068PCDH19c.1593C>A (p.Phe531Leu)
dbSNP gnomAD v4
Xg.100407006A>CCA414002382PCDH19c.1592T>G (p.Phe531Cys)
Xg.100407006A>GCA414002383PCDH19c.1592T>C (p.Phe531Ser)
Xg.100407006A>TCA414002384PCDH19c.1592T>A (p.Phe531Tyr)
Xg.100407007A>CCA414002386PCDH19c.1591T>G (p.Phe531Val)
Xg.100407007A>GCA414002387PCDH19c.1591T>C (p.Phe531Leu)
Xg.100407007A>TCA414002385PCDH19c.1591T>A (p.Phe531Ile)
Xg.100407008T>ACA414002388PCDH19c.1590A>T (p.Glu530Asp)
Xg.100407008T>CCA517747971PCDH19c.1590A>G (p.Glu530=)
Xg.100407008T>GCA414002389PCDH19c.1590A>C (p.Glu530Asp)
Xg.100407009T>ACA414002390PCDH19c.1589A>T (p.Glu530Val)
Xg.100407009T>CCA414002391PCDH19c.1589A>G (p.Glu530Gly)
Xg.100407009T>GCA414002392PCDH19c.1589A>C (p.Glu530Ala)
Xg.100407010C>ACA414002395PCDH19c.1588G>T (p.Glu530Ter)
Xg.100407010C>GCA414002393PCDH19c.1588G>C (p.Glu530Gln)
Xg.100407010C>TCA414002394PCDH19c.1588G>A (p.Glu530Lys)
COSMIC COSMIC
Xg.100407011G>ACA517747973PCDH19c.1587C>T (p.Phe529=)
Xg.100407011G>CCA414002396PCDH19c.1587C>G (p.Phe529Leu)
Xg.100407011G>TCA414002397PCDH19c.1587C>A (p.Phe529Leu)
Xg.100407012A>CCA414002398PCDH19c.1586T>G (p.Phe529Cys)
Xg.100407012A>GCA414002399PCDH19c.1586T>C (p.Phe529Ser)
Xg.100407012A>TCA414002400PCDH19c.1586T>A (p.Phe529Tyr)
Xg.100407013A>CCA414002401PCDH19c.1585T>G (p.Phe529Val)
Xg.100407013A>GCA414002403PCDH19c.1585T>C (p.Phe529Leu)
Xg.100407013A>TCA414002402PCDH19c.1585T>A (p.Phe529Ile)
Xg.100407014C>ACA517747974PCDH19c.1584G>T (p.Ala528=)
gnomAD v4
Xg.100407014C>GCA517747975PCDH19c.1584G>C (p.Ala528=)
Xg.100407014C>TCA517747976PCDH19c.1584G>A (p.Ala528=)
Xg.100407015G>ACA414002404PCDH19c.1583C>T (p.Ala528Val)
dbSNP gnomAD v3 gnomAD v4
Xg.100407015G>CCA414002405PCDH19c.1583C>G (p.Ala528Gly)
Xg.100407015G=CA2447976557PCDH19c.1583C= (p.Ala528=)
Xg.100407015G>TCA414002406PCDH19c.1583C>A (p.Ala528Glu)
Xg.100407016C>ACA414002407PCDH19c.1582G>T (p.Ala528Ser)
Xg.100407016C>GCA414002408PCDH19c.1582G>C (p.Ala528Pro)
Xg.100407016C>TCA414002409PCDH19c.1582G>A (p.Ala528Thr)

Number of alleles fetched