Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.54153256_54153257delinsTCCA1910916131PCDH15c.1663_1664delinsGA (p.Glu555=)
c.1627_1628delinsGA (p.Glu543=)
c.1648_1649delinsGA (p.Glu550=)
c.486_487delinsGA
c.1642_1643delinsGA (p.Glu548=)
c.1516_1517delinsGA (p.Glu506=)
c.1561_1562delinsGA (p.Glu521=)
c.1305+42426_1305+42427delinsGA (n.1305+42426_1305+42427delinsGA)
c.1098+60679_1098+60680delinsGA (n.1098+60679_1098+60680delinsGA)
c.460_461delinsGA (p.Glu154=)
c.876+164014_876+164015delinsGA (n.876+164014_876+164015delinsGA)
c.-24-295994_-24-295993delinsGA (n.-24-295994_-24-295993delinsGA)
n.2640_2641delinsGA
10g.54153257C>ACA376519802PCDH15c.1663G>T (p.Glu555Ter)
c.1627G>T (p.Glu543Ter)
c.1648G>T (p.Glu550Ter)
c.486G>T
c.1642G>T (p.Glu548Ter)
c.1516G>T (p.Glu506Ter)
c.1561G>T (p.Glu521Ter)
c.1305+42426G>T (n.1305+42426G>T)
c.1098+60679G>T (n.1098+60679G>T)
c.460G>T (p.Glu154Ter)
c.876+164014G>T (n.876+164014G>T)
c.-24-295994G>T (n.-24-295994G>T)
n.2640G>T
10g.54153257C=CA1910916142PCDH15c.1663G= (p.Glu555=)
c.1627G= (p.Glu543=)
c.1648G= (p.Glu550=)
c.486G=
c.1642G= (p.Glu548=)
c.1516G= (p.Glu506=)
c.1561G= (p.Glu521=)
c.1305+42426G= (n.1305+42426G=)
c.1098+60679G= (n.1098+60679G=)
c.460G= (p.Glu154=)
c.876+164014G= (n.876+164014G=)
c.-24-295994G= (n.-24-295994G=)
n.2640G=
10g.54153257C>GCA376519798PCDH15c.1663G>C (p.Glu555Gln)
c.1627G>C (p.Glu543Gln)
c.1648G>C (p.Glu550Gln)
c.486G>C
c.1642G>C (p.Glu548Gln)
c.1516G>C (p.Glu506Gln)
c.1561G>C (p.Glu521Gln)
c.1305+42426G>C (n.1305+42426G>C)
c.1098+60679G>C (n.1098+60679G>C)
c.460G>C (p.Glu154Gln)
c.876+164014G>C (n.876+164014G>C)
c.-24-295994G>C (n.-24-295994G>C)
n.2640G>C
10g.54153257C>TCA5506306PCDH15c.1663G>A (p.Glu555Lys)
c.1627G>A (p.Glu543Lys)
c.1648G>A (p.Glu550Lys)
c.486G>A
c.1642G>A (p.Glu548Lys)
c.1516G>A (p.Glu506Lys)
c.1561G>A (p.Glu521Lys)
c.1305+42426G>A (n.1305+42426G>A)
c.1098+60679G>A (n.1098+60679G>A)
c.460G>A (p.Glu154Lys)
c.876+164014G>A (n.876+164014G>A)
c.-24-295994G>A (n.-24-295994G>A)
n.2640G>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
10g.54153260delCA16041374PCDH15c.1663del (p.Glu555ArgfsTer?)
c.1627del (p.Glu543ArgfsTer?)
c.1648del (p.Glu550ArgfsTer?)
c.486del
c.1642del (p.Glu548ArgfsTer?)
c.1516del (p.Glu506ArgfsTer?)
c.1561del (p.Glu521ArgfsTer?)
c.1305+42426del (n.1305+42426del)
c.1098+60679del (n.1098+60679del)
c.460del (p.Glu154ArgfsTer?)
c.876+164014del (n.876+164014del)
c.-24-295994del (n.-24-295994del)
n.2640del
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
10g.54153258C>ACA469494526PCDH15c.1662G>T (p.Gly554=)
c.1626G>T (p.Gly542=)
c.1647G>T (p.Gly549=)
c.485G>T
c.1641G>T (p.Gly547=)
c.1515G>T (p.Gly505=)
c.1560G>T (p.Gly520=)
c.1305+42425G>T (n.1305+42425G>T)
c.1098+60678G>T (n.1098+60678G>T)
c.459G>T (p.Gly153=)
c.876+164013G>T (n.876+164013G>T)
c.-24-295995G>T (n.-24-295995G>T)
n.2639G>T
10g.54153258C=CA1910916151PCDH15c.1662G= (p.Gly554=)
c.1626G= (p.Gly542=)
c.1647G= (p.Gly549=)
c.485G=
c.1641G= (p.Gly547=)
c.1515G= (p.Gly505=)
c.1560G= (p.Gly520=)
c.1305+42425G= (n.1305+42425G=)
c.1098+60678G= (n.1098+60678G=)
c.459G= (p.Gly153=)
c.876+164013G= (n.876+164013G=)
c.-24-295995G= (n.-24-295995G=)
n.2639G=
10g.54153258C>GCA469494528PCDH15c.1662G>C (p.Gly554=)
c.1626G>C (p.Gly542=)
c.1647G>C (p.Gly549=)
c.485G>C
c.1641G>C (p.Gly547=)
c.1515G>C (p.Gly505=)
c.1560G>C (p.Gly520=)
c.1305+42425G>C (n.1305+42425G>C)
c.1098+60678G>C (n.1098+60678G>C)
c.459G>C (p.Gly153=)
c.876+164013G>C (n.876+164013G>C)
c.-24-295995G>C (n.-24-295995G>C)
n.2639G>C
10g.54153258C>TCA5506307PCDH15c.1662G>A (p.Gly554=)
c.1626G>A (p.Gly542=)
c.1647G>A (p.Gly549=)
c.485G>A
c.1641G>A (p.Gly547=)
c.1515G>A (p.Gly505=)
c.1560G>A (p.Gly520=)
c.1305+42425G>A (n.1305+42425G>A)
c.1098+60678G>A (n.1098+60678G>A)
c.459G>A (p.Gly153=)
c.876+164013G>A (n.876+164013G>A)
c.-24-295995G>A (n.-24-295995G>A)
n.2639G>A
ClinVar dbSNP ExAC gnomAD v4
10g.54153259C>ACA376519807PCDH15c.1661G>T (p.Gly554Val)
c.1625G>T (p.Gly542Val)
c.1646G>T (p.Gly549Val)
c.484G>T
c.1640G>T (p.Gly547Val)
c.1514G>T (p.Gly505Val)
c.1559G>T (p.Gly520Val)
c.1305+42424G>T (n.1305+42424G>T)
c.1098+60677G>T (n.1098+60677G>T)
c.458G>T (p.Gly153Val)
c.876+164012G>T (n.876+164012G>T)
c.-24-295996G>T (n.-24-295996G>T)
n.2638G>T
COSMIC COSMIC COSMIC COSMIC
10g.54153259C=CA1910916153PCDH15c.1661G= (p.Gly554=)
c.1625G= (p.Gly542=)
c.1646G= (p.Gly549=)
c.484G=
c.1640G= (p.Gly547=)
c.1514G= (p.Gly505=)
c.1559G= (p.Gly520=)
c.1305+42424G= (n.1305+42424G=)
c.1098+60677G= (n.1098+60677G=)
c.458G= (p.Gly153=)
c.876+164012G= (n.876+164012G=)
c.-24-295996G= (n.-24-295996G=)
n.2638G=
10g.54153259C>GCA5506308PCDH15c.1661G>C (p.Gly554Ala)
c.1625G>C (p.Gly542Ala)
c.1646G>C (p.Gly549Ala)
c.484G>C
c.1640G>C (p.Gly547Ala)
c.1514G>C (p.Gly505Ala)
c.1559G>C (p.Gly520Ala)
c.1305+42424G>C (n.1305+42424G>C)
c.1098+60677G>C (n.1098+60677G>C)
c.458G>C (p.Gly153Ala)
c.876+164012G>C (n.876+164012G>C)
c.-24-295996G>C (n.-24-295996G>C)
n.2638G>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.54153259C>TCA376519811PCDH15c.1661G>A (p.Gly554Glu)
c.1625G>A (p.Gly542Glu)
c.1646G>A (p.Gly549Glu)
c.484G>A
c.1640G>A (p.Gly547Glu)
c.1514G>A (p.Gly505Glu)
c.1559G>A (p.Gly520Glu)
c.1305+42424G>A (n.1305+42424G>A)
c.1098+60677G>A (n.1098+60677G>A)
c.458G>A (p.Gly153Glu)
c.876+164012G>A (n.876+164012G>A)
c.-24-295996G>A (n.-24-295996G>A)
n.2638G>A
gnomAD v4
10g.54153260C>ACA376519813PCDH15c.1660G>T (p.Gly554Trp)
c.1624G>T (p.Gly542Trp)
c.1645G>T (p.Gly549Trp)
c.483G>T
c.1639G>T (p.Gly547Trp)
c.1513G>T (p.Gly505Trp)
c.1558G>T (p.Gly520Trp)
c.1305+42423G>T (n.1305+42423G>T)
c.1098+60676G>T (n.1098+60676G>T)
c.457G>T (p.Gly153Trp)
c.876+164011G>T (n.876+164011G>T)
c.-24-295997G>T (n.-24-295997G>T)
n.2637G>T
COSMIC COSMIC COSMIC COSMIC
10g.54153260C=CA1910916161PCDH15c.1660G= (p.Gly554=)
c.1624G= (p.Gly542=)
c.1645G= (p.Gly549=)
c.483G=
c.1639G= (p.Gly547=)
c.1513G= (p.Gly505=)
c.1558G= (p.Gly520=)
c.1305+42423G= (n.1305+42423G=)
c.1098+60676G= (n.1098+60676G=)
c.457G= (p.Gly153=)
c.876+164011G= (n.876+164011G=)
c.-24-295997G= (n.-24-295997G=)
n.2637G=
10g.54153260C>GCA376519815PCDH15c.1660G>C (p.Gly554Arg)
c.1624G>C (p.Gly542Arg)
c.1645G>C (p.Gly549Arg)
c.483G>C
c.1639G>C (p.Gly547Arg)
c.1513G>C (p.Gly505Arg)
c.1558G>C (p.Gly520Arg)
c.1305+42423G>C (n.1305+42423G>C)
c.1098+60676G>C (n.1098+60676G>C)
c.457G>C (p.Gly153Arg)
c.876+164011G>C (n.876+164011G>C)
c.-24-295997G>C (n.-24-295997G>C)
n.2637G>C
10g.54153260C>TCA5506309PCDH15c.1660G>A (p.Gly554Arg)
c.1624G>A (p.Gly542Arg)
c.1645G>A (p.Gly549Arg)
c.483G>A
c.1639G>A (p.Gly547Arg)
c.1513G>A (p.Gly505Arg)
c.1558G>A (p.Gly520Arg)
c.1305+42423G>A (n.1305+42423G>A)
c.1098+60676G>A (n.1098+60676G>A)
c.457G>A (p.Gly153Arg)
c.876+164011G>A (n.876+164011G>A)
c.-24-295997G>A (n.-24-295997G>A)
n.2637G>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
10g.54153261A=CA1910916166PCDH15c.1659T= (p.Asn553=)
c.1623T= (p.Asn541=)
c.1644T= (p.Asn548=)
c.482T=
c.1638T= (p.Asn546=)
c.1512T= (p.Asn504=)
c.1557T= (p.Asn519=)
c.1305+42422T= (n.1305+42422T=)
c.1098+60675T= (n.1098+60675T=)
c.456T= (p.Asn152=)
c.876+164010T= (n.876+164010T=)
c.-24-295998T= (n.-24-295998T=)
n.2636T=
10g.54153261A>CCA376519819PCDH15c.1659T>G (p.Asn553Lys)
c.1623T>G (p.Asn541Lys)
c.1644T>G (p.Asn548Lys)
c.482T>G
c.1638T>G (p.Asn546Lys)
c.1512T>G (p.Asn504Lys)
c.1557T>G (p.Asn519Lys)
c.1305+42422T>G (n.1305+42422T>G)
c.1098+60675T>G (n.1098+60675T>G)
c.456T>G (p.Asn152Lys)
c.876+164010T>G (n.876+164010T>G)
c.-24-295998T>G (n.-24-295998T>G)
n.2636T>G
10g.54153261A>GCA469494531PCDH15c.1659T>C (p.Asn553=)
c.1623T>C (p.Asn541=)
c.1644T>C (p.Asn548=)
c.482T>C
c.1638T>C (p.Asn546=)
c.1512T>C (p.Asn504=)
c.1557T>C (p.Asn519=)
c.1305+42422T>C (n.1305+42422T>C)
c.1098+60675T>C (n.1098+60675T>C)
c.456T>C (p.Asn152=)
c.876+164010T>C (n.876+164010T>C)
c.-24-295998T>C (n.-24-295998T>C)
n.2636T>C
ClinVar
10g.54153261A>TCA5506310PCDH15c.1659T>A (p.Asn553Lys)
c.1623T>A (p.Asn541Lys)
c.1644T>A (p.Asn548Lys)
c.482T>A
c.1638T>A (p.Asn546Lys)
c.1512T>A (p.Asn504Lys)
c.1557T>A (p.Asn519Lys)
c.1305+42422T>A (n.1305+42422T>A)
c.1098+60675T>A (n.1098+60675T>A)
c.456T>A (p.Asn152Lys)
c.876+164010T>A (n.876+164010T>A)
c.-24-295998T>A (n.-24-295998T>A)
n.2636T>A
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
10g.54153262T>ACA376519822PCDH15c.1658A>T (p.Asn553Ile)
c.1622A>T (p.Asn541Ile)
c.1643A>T (p.Asn548Ile)
c.481A>T
c.1637A>T (p.Asn546Ile)
c.1511A>T (p.Asn504Ile)
c.1556A>T (p.Asn519Ile)
c.1305+42421A>T (n.1305+42421A>T)
c.1098+60674A>T (n.1098+60674A>T)
c.455A>T (p.Asn152Ile)
c.876+164009A>T (n.876+164009A>T)
c.-24-295999A>T (n.-24-295999A>T)
n.2635A>T
10g.54153262T>CCA376519828PCDH15c.1658A>G (p.Asn553Ser)
c.1622A>G (p.Asn541Ser)
c.1643A>G (p.Asn548Ser)
c.481A>G
c.1637A>G (p.Asn546Ser)
c.1511A>G (p.Asn504Ser)
c.1556A>G (p.Asn519Ser)
c.1305+42421A>G (n.1305+42421A>G)
c.1098+60674A>G (n.1098+60674A>G)
c.455A>G (p.Asn152Ser)
c.876+164009A>G (n.876+164009A>G)
c.-24-295999A>G (n.-24-295999A>G)
n.2635A>G
gnomAD v4
10g.54153262T>GCA376519838PCDH15c.1658A>C (p.Asn553Thr)
c.1622A>C (p.Asn541Thr)
c.1643A>C (p.Asn548Thr)
c.481A>C
c.1637A>C (p.Asn546Thr)
c.1511A>C (p.Asn504Thr)
c.1556A>C (p.Asn519Thr)
c.1305+42421A>C (n.1305+42421A>C)
c.1098+60674A>C (n.1098+60674A>C)
c.455A>C (p.Asn152Thr)
c.876+164009A>C (n.876+164009A>C)
c.-24-295999A>C (n.-24-295999A>C)
n.2635A>C
dbSNP gnomAD v2 gnomAD v4
10g.54153262T=CA1910916172PCDH15c.1658A= (p.Asn553=)
c.1622A= (p.Asn541=)
c.1643A= (p.Asn548=)
c.481A=
c.1637A= (p.Asn546=)
c.1511A= (p.Asn504=)
c.1556A= (p.Asn519=)
c.1305+42421A= (n.1305+42421A=)
c.1098+60674A= (n.1098+60674A=)
c.455A= (p.Asn152=)
c.876+164009A= (n.876+164009A=)
c.-24-295999A= (n.-24-295999A=)
n.2635A=
10g.54153263T>ACA376519846PCDH15c.1657A>T (p.Asn553Tyr)
c.1621A>T (p.Asn541Tyr)
c.1642A>T (p.Asn548Tyr)
c.480A>T
c.1636A>T (p.Asn546Tyr)
c.1510A>T (p.Asn504Tyr)
c.1555A>T (p.Asn519Tyr)
c.1305+42420A>T (n.1305+42420A>T)
c.1098+60673A>T (n.1098+60673A>T)
c.454A>T (p.Asn152Tyr)
c.876+164008A>T (n.876+164008A>T)
c.-24-296000A>T (n.-24-296000A>T)
n.2634A>T
10g.54153263T>CCA376519849PCDH15c.1657A>G (p.Asn553Asp)
c.1621A>G (p.Asn541Asp)
c.1642A>G (p.Asn548Asp)
c.480A>G
c.1636A>G (p.Asn546Asp)
c.1510A>G (p.Asn504Asp)
c.1555A>G (p.Asn519Asp)
c.1305+42420A>G (n.1305+42420A>G)
c.1098+60673A>G (n.1098+60673A>G)
c.454A>G (p.Asn152Asp)
c.876+164008A>G (n.876+164008A>G)
c.-24-296000A>G (n.-24-296000A>G)
n.2634A>G
dbSNP gnomAD v2 gnomAD v4
10g.54153263T>GCA207217367PCDH15c.1657A>C (p.Asn553His)
c.1621A>C (p.Asn541His)
c.1642A>C (p.Asn548His)
c.480A>C
c.1636A>C (p.Asn546His)
c.1510A>C (p.Asn504His)
c.1555A>C (p.Asn519His)
c.1305+42420A>C (n.1305+42420A>C)
c.1098+60673A>C (n.1098+60673A>C)
c.454A>C (p.Asn152His)
c.876+164008A>C (n.876+164008A>C)
c.-24-296000A>C (n.-24-296000A>C)
n.2634A>C
dbSNP gnomAD v2 gnomAD v4
10g.54153263T=CA1910916177PCDH15c.1657A= (p.Asn553=)
c.1621A= (p.Asn541=)
c.1642A= (p.Asn548=)
c.480A=
c.1636A= (p.Asn546=)
c.1510A= (p.Asn504=)
c.1555A= (p.Asn519=)
c.1305+42420A= (n.1305+42420A=)
c.1098+60673A= (n.1098+60673A=)
c.454A= (p.Asn152=)
c.876+164008A= (n.876+164008A=)
c.-24-296000A= (n.-24-296000A=)
n.2634A=
10g.54153264T>ACA469494541PCDH15c.1656A>T (p.Ser552=)
c.1620A>T (p.Ser540=)
c.1641A>T (p.Ser547=)
c.479A>T
c.1635A>T (p.Ser545=)
c.1509A>T (p.Ser503=)
c.1554A>T (p.Ser518=)
c.1305+42419A>T (n.1305+42419A>T)
c.1098+60672A>T (n.1098+60672A>T)
c.453A>T (p.Ser151=)
c.876+164007A>T (n.876+164007A>T)
c.-24-296001A>T (n.-24-296001A>T)
n.2633A>T
10g.54153264T>CCA469494543PCDH15c.1656A>G (p.Ser552=)
c.1620A>G (p.Ser540=)
c.1641A>G (p.Ser547=)
c.479A>G
c.1635A>G (p.Ser545=)
c.1509A>G (p.Ser503=)
c.1554A>G (p.Ser518=)
c.1305+42419A>G (n.1305+42419A>G)
c.1098+60672A>G (n.1098+60672A>G)
c.453A>G (p.Ser151=)
c.876+164007A>G (n.876+164007A>G)
c.-24-296001A>G (n.-24-296001A>G)
n.2633A>G
gnomAD v4
10g.54153264T>GCA469494544PCDH15c.1656A>C (p.Ser552=)
c.1620A>C (p.Ser540=)
c.1641A>C (p.Ser547=)
c.479A>C
c.1635A>C (p.Ser545=)
c.1509A>C (p.Ser503=)
c.1554A>C (p.Ser518=)
c.1305+42419A>C (n.1305+42419A>C)
c.1098+60672A>C (n.1098+60672A>C)
c.453A>C (p.Ser151=)
c.876+164007A>C (n.876+164007A>C)
c.-24-296001A>C (n.-24-296001A>C)
n.2633A>C
10g.54153265G>ACA376519853PCDH15c.1655C>T (p.Ser552Leu)
c.1619C>T (p.Ser540Leu)
c.1640C>T (p.Ser547Leu)
c.478C>T
c.1634C>T (p.Ser545Leu)
c.1508C>T (p.Ser503Leu)
c.1553C>T (p.Ser518Leu)
c.1305+42418C>T (n.1305+42418C>T)
c.1098+60671C>T (n.1098+60671C>T)
c.452C>T (p.Ser151Leu)
c.876+164006C>T (n.876+164006C>T)
c.-24-296002C>T (n.-24-296002C>T)
n.2632C>T
dbSNP
10g.54153265G>CCA376519865PCDH15c.1655C>G (p.Ser552Ter)
c.1619C>G (p.Ser540Ter)
c.1640C>G (p.Ser547Ter)
c.478C>G
c.1634C>G (p.Ser545Ter)
c.1508C>G (p.Ser503Ter)
c.1553C>G (p.Ser518Ter)
c.1305+42418C>G (n.1305+42418C>G)
c.1098+60671C>G (n.1098+60671C>G)
c.452C>G (p.Ser151Ter)
c.876+164006C>G (n.876+164006C>G)
c.-24-296002C>G (n.-24-296002C>G)
n.2632C>G
10g.54153265G=CA1910916181PCDH15c.1655C= (p.Ser552=)
c.1619C= (p.Ser540=)
c.1640C= (p.Ser547=)
c.478C=
c.1634C= (p.Ser545=)
c.1508C= (p.Ser503=)
c.1553C= (p.Ser518=)
c.1305+42418C= (n.1305+42418C=)
c.1098+60671C= (n.1098+60671C=)
c.452C= (p.Ser151=)
c.876+164006C= (n.876+164006C=)
c.-24-296002C= (n.-24-296002C=)
n.2632C=
10g.54153265G>TCA376519854PCDH15c.1655C>A (p.Ser552Ter)
c.1619C>A (p.Ser540Ter)
c.1640C>A (p.Ser547Ter)
c.478C>A
c.1634C>A (p.Ser545Ter)
c.1508C>A (p.Ser503Ter)
c.1553C>A (p.Ser518Ter)
c.1305+42418C>A (n.1305+42418C>A)
c.1098+60671C>A (n.1098+60671C>A)
c.452C>A (p.Ser151Ter)
c.876+164006C>A (n.876+164006C>A)
c.-24-296002C>A (n.-24-296002C>A)
n.2632C>A
dbSNP
10g.54153266A=CA1910916183PCDH15c.1654T= (p.Ser552=)
c.1618T= (p.Ser540=)
c.1639T= (p.Ser547=)
c.477T=
c.1633T= (p.Ser545=)
c.1507T= (p.Ser503=)
c.1552T= (p.Ser518=)
c.1305+42417T= (n.1305+42417T=)
c.1098+60670T= (n.1098+60670T=)
c.451T= (p.Ser151=)
c.876+164005T= (n.876+164005T=)
c.-24-296003T= (n.-24-296003T=)
n.2631T=
10g.54153266A>CCA376519869PCDH15c.1654T>G (p.Ser552Ala)
c.1618T>G (p.Ser540Ala)
c.1639T>G (p.Ser547Ala)
c.477T>G
c.1633T>G (p.Ser545Ala)
c.1507T>G (p.Ser503Ala)
c.1552T>G (p.Ser518Ala)
c.1305+42417T>G (n.1305+42417T>G)
c.1098+60670T>G (n.1098+60670T>G)
c.451T>G (p.Ser151Ala)
c.876+164005T>G (n.876+164005T>G)
c.-24-296003T>G (n.-24-296003T>G)
n.2631T>G
dbSNP
10g.54153266A>GCA376519874PCDH15c.1654T>C (p.Ser552Pro)
c.1618T>C (p.Ser540Pro)
c.1639T>C (p.Ser547Pro)
c.477T>C
c.1633T>C (p.Ser545Pro)
c.1507T>C (p.Ser503Pro)
c.1552T>C (p.Ser518Pro)
c.1305+42417T>C (n.1305+42417T>C)
c.1098+60670T>C (n.1098+60670T>C)
c.451T>C (p.Ser151Pro)
c.876+164005T>C (n.876+164005T>C)
c.-24-296003T>C (n.-24-296003T>C)
n.2631T>C
10g.54153266A>TCA376519870PCDH15c.1654T>A (p.Ser552Thr)
c.1618T>A (p.Ser540Thr)
c.1639T>A (p.Ser547Thr)
c.477T>A
c.1633T>A (p.Ser545Thr)
c.1507T>A (p.Ser503Thr)
c.1552T>A (p.Ser518Thr)
c.1305+42417T>A (n.1305+42417T>A)
c.1098+60670T>A (n.1098+60670T>A)
c.451T>A (p.Ser151Thr)
c.876+164005T>A (n.876+164005T>A)
c.-24-296003T>A (n.-24-296003T>A)
n.2631T>A
gnomAD v4
10g.54153267C>ACA469494550PCDH15c.1653G>T (p.Gly551=)
c.1617G>T (p.Gly539=)
c.1638G>T (p.Gly546=)
c.476G>T
c.1632G>T (p.Gly544=)
c.1506G>T (p.Gly502=)
c.1551G>T (p.Gly517=)
c.1305+42416G>T (n.1305+42416G>T)
c.1098+60669G>T (n.1098+60669G>T)
c.450G>T (p.Gly150=)
c.876+164004G>T (n.876+164004G>T)
c.-24-296004G>T (n.-24-296004G>T)
n.2630G>T
10g.54153267C>GCA469494553PCDH15c.1653G>C (p.Gly551=)
c.1617G>C (p.Gly539=)
c.1638G>C (p.Gly546=)
c.476G>C
c.1632G>C (p.Gly544=)
c.1506G>C (p.Gly502=)
c.1551G>C (p.Gly517=)
c.1305+42416G>C (n.1305+42416G>C)
c.1098+60669G>C (n.1098+60669G>C)
c.450G>C (p.Gly150=)
c.876+164004G>C (n.876+164004G>C)
c.-24-296004G>C (n.-24-296004G>C)
n.2630G>C
10g.54153267C>TCA469494552PCDH15c.1653G>A (p.Gly551=)
c.1617G>A (p.Gly539=)
c.1638G>A (p.Gly546=)
c.476G>A
c.1632G>A (p.Gly544=)
c.1506G>A (p.Gly502=)
c.1551G>A (p.Gly517=)
c.1305+42416G>A (n.1305+42416G>A)
c.1098+60669G>A (n.1098+60669G>A)
c.450G>A (p.Gly150=)
c.876+164004G>A (n.876+164004G>A)
c.-24-296004G>A (n.-24-296004G>A)
n.2630G>A
10g.54153268C>ACA376519875PCDH15c.1652G>T (p.Gly551Val)
c.1616G>T (p.Gly539Val)
c.1637G>T (p.Gly546Val)
c.475G>T
c.1631G>T (p.Gly544Val)
c.1505G>T (p.Gly502Val)
c.1550G>T (p.Gly517Val)
c.1305+42415G>T (n.1305+42415G>T)
c.1098+60668G>T (n.1098+60668G>T)
c.449G>T (p.Gly150Val)
c.876+164003G>T (n.876+164003G>T)
c.-24-296005G>T (n.-24-296005G>T)
n.2629G>T
10g.54153268C>GCA376519878PCDH15c.1652G>C (p.Gly551Ala)
c.1616G>C (p.Gly539Ala)
c.1637G>C (p.Gly546Ala)
c.475G>C
c.1631G>C (p.Gly544Ala)
c.1505G>C (p.Gly502Ala)
c.1550G>C (p.Gly517Ala)
c.1305+42415G>C (n.1305+42415G>C)
c.1098+60668G>C (n.1098+60668G>C)
c.449G>C (p.Gly150Ala)
c.876+164003G>C (n.876+164003G>C)
c.-24-296005G>C (n.-24-296005G>C)
n.2629G>C
10g.54153268C>TCA376519882PCDH15c.1652G>A (p.Gly551Glu)
c.1616G>A (p.Gly539Glu)
c.1637G>A (p.Gly546Glu)
c.475G>A
c.1631G>A (p.Gly544Glu)
c.1505G>A (p.Gly502Glu)
c.1550G>A (p.Gly517Glu)
c.1305+42415G>A (n.1305+42415G>A)
c.1098+60668G>A (n.1098+60668G>A)
c.449G>A (p.Gly150Glu)
c.876+164003G>A (n.876+164003G>A)
c.-24-296005G>A (n.-24-296005G>A)
n.2629G>A
10g.54153269C>ACA5506311PCDH15c.1651G>T (p.Gly551Trp)
c.1615G>T (p.Gly539Trp)
c.1636G>T (p.Gly546Trp)
c.474G>T
c.1630G>T (p.Gly544Trp)
c.1504G>T (p.Gly502Trp)
c.1549G>T (p.Gly517Trp)
c.1305+42414G>T (n.1305+42414G>T)
c.1098+60667G>T (n.1098+60667G>T)
c.448G>T (p.Gly150Trp)
c.876+164002G>T (n.876+164002G>T)
c.-24-296006G>T (n.-24-296006G>T)
n.2628G>T
dbSNP ExAC gnomAD v2 gnomAD v4
10g.54153269C=CA1910916185PCDH15c.1651G= (p.Gly551=)
c.1615G= (p.Gly539=)
c.1636G= (p.Gly546=)
c.474G=
c.1630G= (p.Gly544=)
c.1504G= (p.Gly502=)
c.1549G= (p.Gly517=)
c.1305+42414G= (n.1305+42414G=)
c.1098+60667G= (n.1098+60667G=)
c.448G= (p.Gly150=)
c.876+164002G= (n.876+164002G=)
c.-24-296006G= (n.-24-296006G=)
n.2628G=
10g.54153269C>GCA376519886PCDH15c.1651G>C (p.Gly551Arg)
c.1615G>C (p.Gly539Arg)
c.1636G>C (p.Gly546Arg)
c.474G>C
c.1630G>C (p.Gly544Arg)
c.1504G>C (p.Gly502Arg)
c.1549G>C (p.Gly517Arg)
c.1305+42414G>C (n.1305+42414G>C)
c.1098+60667G>C (n.1098+60667G>C)
c.448G>C (p.Gly150Arg)
c.876+164002G>C (n.876+164002G>C)
c.-24-296006G>C (n.-24-296006G>C)
n.2628G>C
ClinVar

Number of alleles fetched