Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.53806712_53806720delCA912970255PCDH15c.3941_3949del
c.5082_5090del (p.Ser1694_Glu1697delinsArg)
c.4893_4901del (p.Ser1631_Glu1634delinsArg)
c.4890_4898del (p.Ser1630_Glu1633delinsArg)
c.1110_1118del (p.Ser370_Glu373delinsArg)
c.4905_4913del (p.Ser1635_Glu1638delinsArg)
c.4887_4895del (p.Ser1629_Glu1632delinsArg)
c.1242_1250del (p.Ser414_Glu417delinsArg)
c.4908_4916del (p.Ser1636_Glu1639delinsArg)
c.5016_5024del (p.Ser1672_Glu1675delinsArg)
n.11374_11382del
n.11365_11373del
10g.53806712_53806720delinsTCAACTGTGCA1910756050PCDH15c.3941_3949delinsCACAGTTGA
c.5082_5090delinsCACAGTTGA (p.Ser1694=)
c.4893_4901delinsCACAGTTGA (p.Ser1631=)
c.4890_4898delinsCACAGTTGA (p.Ser1630=)
c.1110_1118delinsCACAGTTGA (p.Ser370=)
c.4905_4913delinsCACAGTTGA (p.Ser1635=)
c.4887_4895delinsCACAGTTGA (p.Ser1629=)
c.1242_1250delinsCACAGTTGA (p.Ser414=)
c.4908_4916delinsCACAGTTGA (p.Ser1636=)
c.5016_5024delinsCACAGTTGA (p.Ser1672=)
n.11374_11382delinsCACAGTTGA
n.11365_11373delinsCACAGTTGA
10g.53806713C>ACA376516076PCDH15c.3948G>T
c.5089G>T (p.Glu1697Ter)
c.4900G>T (p.Glu1634Ter)
c.4897G>T (p.Glu1633Ter)
c.1117G>T (p.Glu373Ter)
c.4912G>T (p.Glu1638Ter)
c.4894G>T (p.Glu1632Ter)
c.1249G>T (p.Glu417Ter)
c.4915G>T (p.Glu1639Ter)
c.5023G>T (p.Glu1675Ter)
n.11381G>T
n.11372G>T
10g.53806713C>GCA376516075PCDH15c.3948G>C
c.5089G>C (p.Glu1697Gln)
c.4900G>C (p.Glu1634Gln)
c.4897G>C (p.Glu1633Gln)
c.1117G>C (p.Glu373Gln)
c.4912G>C (p.Glu1638Gln)
c.4894G>C (p.Glu1632Gln)
c.1249G>C (p.Glu417Gln)
c.4915G>C (p.Glu1639Gln)
c.5023G>C (p.Glu1675Gln)
n.11381G>C
n.11372G>C
10g.53806713C>TCA376516074PCDH15c.3948G>A
c.5089G>A (p.Glu1697Lys)
c.4900G>A (p.Glu1634Lys)
c.4897G>A (p.Glu1633Lys)
c.1117G>A (p.Glu373Lys)
c.4912G>A (p.Glu1638Lys)
c.4894G>A (p.Glu1632Lys)
c.1249G>A (p.Glu417Lys)
c.4915G>A (p.Glu1639Lys)
c.5023G>A (p.Glu1675Lys)
n.11381G>A
n.11372G>A
10g.53806714_53806721delCA658822068PCDH15c.3941_3948del
c.5082_5089del (p.Ser1694ArgfsTer7)
c.4893_4900del (p.Ser1631ArgfsTer7)
c.4890_4897del (p.Ser1630ArgfsTer7)
c.1110_1117del (p.Ser370ArgfsTer7)
c.4905_4912del (p.Ser1635ArgfsTer7)
c.4887_4894del (p.Ser1629ArgfsTer7)
c.1242_1249del (p.Ser414ArgfsTer7)
c.4908_4915del (p.Ser1636ArgfsTer7)
c.5016_5023del (p.Ser1672ArgfsTer7)
n.11374_11381del
n.11365_11372del
 ClinVar dbSNP
10g.53806714A>CCA469545859PCDH15c.3947T>G
c.5088T>G (p.Val1696=)
c.4899T>G (p.Val1633=)
c.4896T>G (p.Val1632=)
c.1116T>G (p.Val372=)
c.4911T>G (p.Val1637=)
c.4893T>G (p.Val1631=)
c.1248T>G (p.Val416=)
c.4914T>G (p.Val1638=)
c.5022T>G (p.Val1674=)
n.11380T>G
n.11371T>G
10g.53806714A>GCA469545860PCDH15c.3947T>C
c.5088T>C (p.Val1696=)
c.4899T>C (p.Val1633=)
c.4896T>C (p.Val1632=)
c.1116T>C (p.Val372=)
c.4911T>C (p.Val1637=)
c.4893T>C (p.Val1631=)
c.1248T>C (p.Val416=)
c.4914T>C (p.Val1638=)
c.5022T>C (p.Val1674=)
n.11380T>C
n.11371T>C
10g.53806714A>TCA469545861PCDH15c.3947T>A
c.5088T>A (p.Val1696=)
c.4899T>A (p.Val1633=)
c.4896T>A (p.Val1632=)
c.1116T>A (p.Val372=)
c.4911T>A (p.Val1637=)
c.4893T>A (p.Val1631=)
c.1248T>A (p.Val416=)
c.4914T>A (p.Val1638=)
c.5022T>A (p.Val1674=)
n.11380T>A
n.11371T>A
10g.53806715A=CA1910756066PCDH15c.3946T=
c.5087T= (p.Val1696=)
c.4898T= (p.Val1633=)
c.4895T= (p.Val1632=)
c.1115T= (p.Val372=)
c.4910T= (p.Val1637=)
c.4892T= (p.Val1631=)
c.1247T= (p.Val416=)
c.4913T= (p.Val1638=)
c.5021T= (p.Val1674=)
n.11379T=
n.11370T=
10g.53806715A>CCA376516077PCDH15c.3946T>G
c.5087T>G (p.Val1696Gly)
c.4898T>G (p.Val1633Gly)
c.4895T>G (p.Val1632Gly)
c.1115T>G (p.Val372Gly)
c.4910T>G (p.Val1637Gly)
c.4892T>G (p.Val1631Gly)
c.1247T>G (p.Val416Gly)
c.4913T>G (p.Val1638Gly)
c.5021T>G (p.Val1674Gly)
n.11379T>G
n.11370T>G
10g.53806715A>GCA5504514PCDH15c.3946T>C
c.5087T>C (p.Val1696Ala)
c.4898T>C (p.Val1633Ala)
c.4895T>C (p.Val1632Ala)
c.1115T>C (p.Val372Ala)
c.4910T>C (p.Val1637Ala)
c.4892T>C (p.Val1631Ala)
c.1247T>C (p.Val416Ala)
c.4913T>C (p.Val1638Ala)
c.5021T>C (p.Val1674Ala)
n.11379T>C
n.11370T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806715A>TCA376516078PCDH15c.3946T>A
c.5087T>A (p.Val1696Asp)
c.4898T>A (p.Val1633Asp)
c.4895T>A (p.Val1632Asp)
c.1115T>A (p.Val372Asp)
c.4910T>A (p.Val1637Asp)
c.4892T>A (p.Val1631Asp)
c.1247T>A (p.Val416Asp)
c.4913T>A (p.Val1638Asp)
c.5021T>A (p.Val1674Asp)
n.11379T>A
n.11370T>A
10g.53806716C>ACA376516079PCDH15c.3945G>T
c.5086G>T (p.Val1696Phe)
c.4897G>T (p.Val1633Phe)
c.4894G>T (p.Val1632Phe)
c.1114G>T (p.Val372Phe)
c.4909G>T (p.Val1637Phe)
c.4891G>T (p.Val1631Phe)
c.1246G>T (p.Val416Phe)
c.4912G>T (p.Val1638Phe)
c.5020G>T (p.Val1674Phe)
n.11378G>T
n.11369G>T
10g.53806716C>GCA376516080PCDH15c.3945G>C
c.5086G>C (p.Val1696Leu)
c.4897G>C (p.Val1633Leu)
c.4894G>C (p.Val1632Leu)
c.1114G>C (p.Val372Leu)
c.4909G>C (p.Val1637Leu)
c.4891G>C (p.Val1631Leu)
c.1246G>C (p.Val416Leu)
c.4912G>C (p.Val1638Leu)
c.5020G>C (p.Val1674Leu)
n.11378G>C
n.11369G>C
10g.53806716C>TCA376516081PCDH15c.3945G>A
c.5086G>A (p.Val1696Ile)
c.4897G>A (p.Val1633Ile)
c.4894G>A (p.Val1632Ile)
c.1114G>A (p.Val372Ile)
c.4909G>A (p.Val1637Ile)
c.4891G>A (p.Val1631Ile)
c.1246G>A (p.Val416Ile)
c.4912G>A (p.Val1638Ile)
c.5020G>A (p.Val1674Ile)
n.11378G>A
n.11369G>A
10g.53806716_53806718delCA912970256PCDH15c.3943_3945del
c.5084_5086del (p.Thr1695_Val1696delinsIle)
c.4895_4897del (p.Thr1632_Val1633delinsIle)
c.4892_4894del (p.Thr1631_Val1632delinsIle)
c.1112_1114del (p.Thr371_Val372delinsIle)
c.4907_4909del (p.Thr1636_Val1637delinsIle)
c.4889_4891del (p.Thr1630_Val1631delinsIle)
c.1244_1246del (p.Thr415_Val416delinsIle)
c.4910_4912del (p.Thr1637_Val1638delinsIle)
c.5018_5020del (p.Thr1673_Val1674delinsIle)
n.11376_11378del
n.11367_11369del
10g.53806716_53806718delinsCTGCA1910756069PCDH15c.3943_3945delinsCAG
c.5084_5086delinsCAG (p.Thr1695=)
c.4895_4897delinsCAG (p.Thr1632=)
c.4892_4894delinsCAG (p.Thr1631=)
c.1112_1114delinsCAG (p.Thr371=)
c.4907_4909delinsCAG (p.Thr1636=)
c.4889_4891delinsCAG (p.Thr1630=)
c.1244_1246delinsCAG (p.Thr415=)
c.4910_4912delinsCAG (p.Thr1637=)
c.5018_5020delinsCAG (p.Thr1673=)
n.11376_11378delinsCAG
n.11367_11369delinsCAG
10g.53806717T>ACA469545864PCDH15c.3944A>T
c.5085A>T (p.Thr1695=)
c.4896A>T (p.Thr1632=)
c.4893A>T (p.Thr1631=)
c.1113A>T (p.Thr371=)
c.4908A>T (p.Thr1636=)
c.4890A>T (p.Thr1630=)
c.1245A>T (p.Thr415=)
c.4911A>T (p.Thr1637=)
c.5019A>T (p.Thr1673=)
n.11377A>T
n.11368A>T
10g.53806717T>CCA469545862PCDH15c.3944A>G
c.5085A>G (p.Thr1695=)
c.4896A>G (p.Thr1632=)
c.4893A>G (p.Thr1631=)
c.1113A>G (p.Thr371=)
c.4908A>G (p.Thr1636=)
c.4890A>G (p.Thr1630=)
c.1245A>G (p.Thr415=)
c.4911A>G (p.Thr1637=)
c.5019A>G (p.Thr1673=)
n.11377A>G
n.11368A>G
 dbSNP
10g.53806717T>GCA469545863PCDH15c.3944A>C
c.5085A>C (p.Thr1695=)
c.4896A>C (p.Thr1632=)
c.4893A>C (p.Thr1631=)
c.1113A>C (p.Thr371=)
c.4908A>C (p.Thr1636=)
c.4890A>C (p.Thr1630=)
c.1245A>C (p.Thr415=)
c.4911A>C (p.Thr1637=)
c.5019A>C (p.Thr1673=)
n.11377A>C
n.11368A>C
 gnomAD v4
10g.53806717T=CA1910756078PCDH15c.3944A=
c.5085A= (p.Thr1695=)
c.4896A= (p.Thr1632=)
c.4893A= (p.Thr1631=)
c.1113A= (p.Thr371=)
c.4908A= (p.Thr1636=)
c.4890A= (p.Thr1630=)
c.1245A= (p.Thr415=)
c.4911A= (p.Thr1637=)
c.5019A= (p.Thr1673=)
n.11377A=
n.11368A=
10g.53806719_53806720delCA658822069PCDH15c.3943_3944del
c.5084_5085del (p.Thr1695SerfsTer2)
c.4895_4896del (p.Thr1632SerfsTer2)
c.4892_4893del (p.Thr1631SerfsTer2)
c.1112_1113del (p.Thr371SerfsTer2)
c.4907_4908del (p.Thr1636SerfsTer2)
c.4889_4890del (p.Thr1630SerfsTer2)
c.1244_1245del (p.Thr415SerfsTer2)
c.4910_4911del (p.Thr1637SerfsTer2)
c.5018_5019del (p.Thr1673SerfsTer2)
n.11376_11377del
n.11367_11368del
 ClinVar dbSNP
10g.53806718G>ACA376516086PCDH15c.3943C>T
c.5084C>T (p.Thr1695Ile)
c.4895C>T (p.Thr1632Ile)
c.4892C>T (p.Thr1631Ile)
c.1112C>T (p.Thr371Ile)
c.4907C>T (p.Thr1636Ile)
c.4889C>T (p.Thr1630Ile)
c.1244C>T (p.Thr415Ile)
c.4910C>T (p.Thr1637Ile)
c.5018C>T (p.Thr1673Ile)
n.11376C>T
n.11367C>T
10g.53806718G>CCA376516083PCDH15c.3943C>G
c.5084C>G (p.Thr1695Arg)
c.4895C>G (p.Thr1632Arg)
c.4892C>G (p.Thr1631Arg)
c.1112C>G (p.Thr371Arg)
c.4907C>G (p.Thr1636Arg)
c.4889C>G (p.Thr1630Arg)
c.1244C>G (p.Thr415Arg)
c.4910C>G (p.Thr1637Arg)
c.5018C>G (p.Thr1673Arg)
n.11376C>G
n.11367C>G
 COSMIC
10g.53806718G>TCA376516084PCDH15c.3943C>A
c.5084C>A (p.Thr1695Lys)
c.4895C>A (p.Thr1632Lys)
c.4892C>A (p.Thr1631Lys)
c.1112C>A (p.Thr371Lys)
c.4907C>A (p.Thr1636Lys)
c.4889C>A (p.Thr1630Lys)
c.1244C>A (p.Thr415Lys)
c.4910C>A (p.Thr1637Lys)
c.5018C>A (p.Thr1673Lys)
n.11376C>A
n.11367C>A
10g.53806719T>ACA376516087PCDH15c.3942A>T
c.5083A>T (p.Thr1695Ser)
c.4894A>T (p.Thr1632Ser)
c.4891A>T (p.Thr1631Ser)
c.1111A>T (p.Thr371Ser)
c.4906A>T (p.Thr1636Ser)
c.4888A>T (p.Thr1630Ser)
c.1243A>T (p.Thr415Ser)
c.4909A>T (p.Thr1637Ser)
c.5017A>T (p.Thr1673Ser)
n.11375A>T
n.11366A>T
10g.53806719T>CCA376516089PCDH15c.3942A>G
c.5083A>G (p.Thr1695Ala)
c.4894A>G (p.Thr1632Ala)
c.4891A>G (p.Thr1631Ala)
c.1111A>G (p.Thr371Ala)
c.4906A>G (p.Thr1636Ala)
c.4888A>G (p.Thr1630Ala)
c.1243A>G (p.Thr415Ala)
c.4909A>G (p.Thr1637Ala)
c.5017A>G (p.Thr1673Ala)
n.11375A>G
n.11366A>G
 gnomAD v4
10g.53806719T>GCA376516091PCDH15c.3942A>C
c.5083A>C (p.Thr1695Pro)
c.4894A>C (p.Thr1632Pro)
c.4891A>C (p.Thr1631Pro)
c.1111A>C (p.Thr371Pro)
c.4906A>C (p.Thr1636Pro)
c.4888A>C (p.Thr1630Pro)
c.1243A>C (p.Thr415Pro)
c.4909A>C (p.Thr1637Pro)
c.5017A>C (p.Thr1673Pro)
n.11375A>C
n.11366A>C
 dbSNP
10g.53806719T=CA1910756082PCDH15c.3942A=
c.5083A= (p.Thr1695=)
c.4894A= (p.Thr1632=)
c.4891A= (p.Thr1631=)
c.1111A= (p.Thr371=)
c.4906A= (p.Thr1636=)
c.4888A= (p.Thr1630=)
c.1243A= (p.Thr415=)
c.4909A= (p.Thr1637=)
c.5017A= (p.Thr1673=)
n.11375A=
n.11366A=
10g.53806720G>ACA469545865PCDH15c.3941C>T
c.5082C>T (p.Ser1694=)
c.4893C>T (p.Ser1631=)
c.4890C>T (p.Ser1630=)
c.1110C>T (p.Ser370=)
c.4905C>T (p.Ser1635=)
c.4887C>T (p.Ser1629=)
c.1242C>T (p.Ser414=)
c.4908C>T (p.Ser1636=)
c.5016C>T (p.Ser1672=)
n.11374C>T
n.11365C>T
10g.53806720G>CCA376516094PCDH15c.3941C>G
c.5082C>G (p.Ser1694Arg)
c.4893C>G (p.Ser1631Arg)
c.4890C>G (p.Ser1630Arg)
c.1110C>G (p.Ser370Arg)
c.4905C>G (p.Ser1635Arg)
c.4887C>G (p.Ser1629Arg)
c.1242C>G (p.Ser414Arg)
c.4908C>G (p.Ser1636Arg)
c.5016C>G (p.Ser1672Arg)
n.11374C>G
n.11365C>G
10g.53806720G>TCA376516096PCDH15c.3941C>A
c.5082C>A (p.Ser1694Arg)
c.4893C>A (p.Ser1631Arg)
c.4890C>A (p.Ser1630Arg)
c.1110C>A (p.Ser370Arg)
c.4905C>A (p.Ser1635Arg)
c.4887C>A (p.Ser1629Arg)
c.1242C>A (p.Ser414Arg)
c.4908C>A (p.Ser1636Arg)
c.5016C>A (p.Ser1672Arg)
n.11374C>A
n.11365C>A
10g.53806721C>ACA376516098PCDH15c.3940G>T
c.5081G>T (p.Ser1694Ile)
c.4892G>T (p.Ser1631Ile)
c.4889G>T (p.Ser1630Ile)
c.1109G>T (p.Ser370Ile)
c.4904G>T (p.Ser1635Ile)
c.4886G>T (p.Ser1629Ile)
c.1241G>T (p.Ser414Ile)
c.4907G>T (p.Ser1636Ile)
c.5015G>T (p.Ser1672Ile)
n.11373G>T
n.11364G>T
10g.53806721C=CA1910756086PCDH15c.3940G=
c.5081G= (p.Ser1694=)
c.4892G= (p.Ser1631=)
c.4889G= (p.Ser1630=)
c.1109G= (p.Ser370=)
c.4904G= (p.Ser1635=)
c.4886G= (p.Ser1629=)
c.1241G= (p.Ser414=)
c.4907G= (p.Ser1636=)
c.5015G= (p.Ser1672=)
n.11373G=
n.11364G=
10g.53806721C>GCA376516100PCDH15c.3940G>C
c.5081G>C (p.Ser1694Thr)
c.4892G>C (p.Ser1631Thr)
c.4889G>C (p.Ser1630Thr)
c.1109G>C (p.Ser370Thr)
c.4904G>C (p.Ser1635Thr)
c.4886G>C (p.Ser1629Thr)
c.1241G>C (p.Ser414Thr)
c.4907G>C (p.Ser1636Thr)
c.5015G>C (p.Ser1672Thr)
n.11373G>C
n.11364G>C
 dbSNP gnomAD v4
10g.53806721C>TCA376516101PCDH15c.3940G>A
c.5081G>A (p.Ser1694Asn)
c.4892G>A (p.Ser1631Asn)
c.4889G>A (p.Ser1630Asn)
c.1109G>A (p.Ser370Asn)
c.4904G>A (p.Ser1635Asn)
c.4886G>A (p.Ser1629Asn)
c.1241G>A (p.Ser414Asn)
c.4907G>A (p.Ser1636Asn)
c.5015G>A (p.Ser1672Asn)
n.11373G>A
n.11364G>A
10g.53806722T>ACA376516102PCDH15c.3939A>T
c.5080A>T (p.Ser1694Cys)
c.4891A>T (p.Ser1631Cys)
c.4888A>T (p.Ser1630Cys)
c.1108A>T (p.Ser370Cys)
c.4903A>T (p.Ser1635Cys)
c.4885A>T (p.Ser1629Cys)
c.1240A>T (p.Ser414Cys)
c.4906A>T (p.Ser1636Cys)
c.5014A>T (p.Ser1672Cys)
n.11372A>T
n.11363A>T
10g.53806722T>CCA376516103PCDH15c.3939A>G
c.5080A>G (p.Ser1694Gly)
c.4891A>G (p.Ser1631Gly)
c.4888A>G (p.Ser1630Gly)
c.1108A>G (p.Ser370Gly)
c.4903A>G (p.Ser1635Gly)
c.4885A>G (p.Ser1629Gly)
c.1240A>G (p.Ser414Gly)
c.4906A>G (p.Ser1636Gly)
c.5014A>G (p.Ser1672Gly)
n.11372A>G
n.11363A>G
 dbSNP
10g.53806722T>GCA376516104PCDH15c.3939A>C
c.5080A>C (p.Ser1694Arg)
c.4891A>C (p.Ser1631Arg)
c.4888A>C (p.Ser1630Arg)
c.1108A>C (p.Ser370Arg)
c.4903A>C (p.Ser1635Arg)
c.4885A>C (p.Ser1629Arg)
c.1240A>C (p.Ser414Arg)
c.4906A>C (p.Ser1636Arg)
c.5014A>C (p.Ser1672Arg)
n.11372A>C
n.11363A>C
10g.53806722T=CA1910756092PCDH15c.3939A=
c.5080A= (p.Ser1694=)
c.4891A= (p.Ser1631=)
c.4888A= (p.Ser1630=)
c.1108A= (p.Ser370=)
c.4903A= (p.Ser1635=)
c.4885A= (p.Ser1629=)
c.1240A= (p.Ser414=)
c.4906A= (p.Ser1636=)
c.5014A= (p.Ser1672=)
n.11372A=
n.11363A=
10g.53806723T>ACA207195808PCDH15c.3938A>T
c.5079A>T (p.Lys1693Asn)
c.4890A>T (p.Lys1630Asn)
c.4887A>T (p.Lys1629Asn)
c.1107A>T (p.Lys369Asn)
c.4902A>T (p.Lys1634Asn)
c.4884A>T (p.Lys1628Asn)
c.1239A>T (p.Lys413Asn)
c.4905A>T (p.Lys1635Asn)
c.5013A>T (p.Lys1671Asn)
n.11371A>T
n.11362A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53806723T>CCA469545866PCDH15c.3938A>G
c.5079A>G (p.Lys1693=)
c.4890A>G (p.Lys1630=)
c.4887A>G (p.Lys1629=)
c.1107A>G (p.Lys369=)
c.4902A>G (p.Lys1634=)
c.4884A>G (p.Lys1628=)
c.1239A>G (p.Lys413=)
c.4905A>G (p.Lys1635=)
c.5013A>G (p.Lys1671=)
n.11371A>G
n.11362A>G
10g.53806723T>GCA5504515PCDH15c.3938A>C
c.5079A>C (p.Lys1693Asn)
c.4890A>C (p.Lys1630Asn)
c.4887A>C (p.Lys1629Asn)
c.1107A>C (p.Lys369Asn)
c.4902A>C (p.Lys1634Asn)
c.4884A>C (p.Lys1628Asn)
c.1239A>C (p.Lys413Asn)
c.4905A>C (p.Lys1635Asn)
c.5013A>C (p.Lys1671Asn)
n.11371A>C
n.11362A>C
 dbSNP ExAC gnomAD v4
10g.53806723T=CA1910756098PCDH15c.3938A=
c.5079A= (p.Lys1693=)
c.4890A= (p.Lys1630=)
c.4887A= (p.Lys1629=)
c.1107A= (p.Lys369=)
c.4902A= (p.Lys1634=)
c.4884A= (p.Lys1628=)
c.1239A= (p.Lys413=)
c.4905A= (p.Lys1635=)
c.5013A= (p.Lys1671=)
n.11371A=
n.11362A=
10g.53806724T>ACA376516106PCDH15c.3937A>T
c.5078A>T (p.Lys1693Ile)
c.4889A>T (p.Lys1630Ile)
c.4886A>T (p.Lys1629Ile)
c.1106A>T (p.Lys369Ile)
c.4901A>T (p.Lys1634Ile)
c.4883A>T (p.Lys1628Ile)
c.1238A>T (p.Lys413Ile)
c.4904A>T (p.Lys1635Ile)
c.5012A>T (p.Lys1671Ile)
n.11370A>T
n.11361A>T
10g.53806724T>CCA376516111PCDH15c.3937A>G
c.5078A>G (p.Lys1693Arg)
c.4889A>G (p.Lys1630Arg)
c.4886A>G (p.Lys1629Arg)
c.1106A>G (p.Lys369Arg)
c.4901A>G (p.Lys1634Arg)
c.4883A>G (p.Lys1628Arg)
c.1238A>G (p.Lys413Arg)
c.4904A>G (p.Lys1635Arg)
c.5012A>G (p.Lys1671Arg)
n.11370A>G
n.11361A>G
10g.53806724T>GCA376516109PCDH15c.3937A>C
c.5078A>C (p.Lys1693Thr)
c.4889A>C (p.Lys1630Thr)
c.4886A>C (p.Lys1629Thr)
c.1106A>C (p.Lys369Thr)
c.4901A>C (p.Lys1634Thr)
c.4883A>C (p.Lys1628Thr)
c.1238A>C (p.Lys413Thr)
c.4904A>C (p.Lys1635Thr)
c.5012A>C (p.Lys1671Thr)
n.11370A>C
n.11361A>C
10g.53806725T>ACA5504516PCDH15c.3936A>T
c.5077A>T (p.Lys1693Ter)
c.4888A>T (p.Lys1630Ter)
c.4885A>T (p.Lys1629Ter)
c.1105A>T (p.Lys369Ter)
c.4900A>T (p.Lys1634Ter)
c.4882A>T (p.Lys1628Ter)
c.1237A>T (p.Lys413Ter)
c.4903A>T (p.Lys1635Ter)
c.5011A>T (p.Lys1671Ter)
n.11369A>T
n.11360A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806725T>CCA376516113PCDH15c.3936A>G
c.5077A>G (p.Lys1693Glu)
c.4888A>G (p.Lys1630Glu)
c.4885A>G (p.Lys1629Glu)
c.1105A>G (p.Lys369Glu)
c.4900A>G (p.Lys1634Glu)
c.4882A>G (p.Lys1628Glu)
c.1237A>G (p.Lys413Glu)
c.4903A>G (p.Lys1635Glu)
c.5011A>G (p.Lys1671Glu)
n.11369A>G
n.11360A>G
10g.53806725T>GCA376516117PCDH15c.3936A>C
c.5077A>C (p.Lys1693Gln)
c.4888A>C (p.Lys1630Gln)
c.4885A>C (p.Lys1629Gln)
c.1105A>C (p.Lys369Gln)
c.4900A>C (p.Lys1634Gln)
c.4882A>C (p.Lys1628Gln)
c.1237A>C (p.Lys413Gln)
c.4903A>C (p.Lys1635Gln)
c.5011A>C (p.Lys1671Gln)
n.11369A>C
n.11360A>C
10g.53806725T=CA1910756106PCDH15c.3936A=
c.5077A= (p.Lys1693=)
c.4888A= (p.Lys1630=)
c.4885A= (p.Lys1629=)
c.1105A= (p.Lys369=)
c.4900A= (p.Lys1634=)
c.4882A= (p.Lys1628=)
c.1237A= (p.Lys413=)
c.4903A= (p.Lys1635=)
c.5011A= (p.Lys1671=)
n.11369A=
n.11360A=
10g.53806726C>ACA469545867PCDH15c.3935G>T
c.5076G>T (p.Leu1692=)
c.4887G>T (p.Leu1629=)
c.4884G>T (p.Leu1628=)
c.1104G>T (p.Leu368=)
c.4899G>T (p.Leu1633=)
c.4881G>T (p.Leu1627=)
c.1236G>T (p.Leu412=)
c.4902G>T (p.Leu1634=)
c.5010G>T (p.Leu1670=)
n.11368G>T
n.11359G>T
10g.53806726C=CA1910756110PCDH15c.3935G=
c.5076G= (p.Leu1692=)
c.4887G= (p.Leu1629=)
c.4884G= (p.Leu1628=)
c.1104G= (p.Leu368=)
c.4899G= (p.Leu1633=)
c.4881G= (p.Leu1627=)
c.1236G= (p.Leu412=)
c.4902G= (p.Leu1634=)
c.5010G= (p.Leu1670=)
n.11368G=
n.11359G=
10g.53806726C>GCA469545868PCDH15c.3935G>C
c.5076G>C (p.Leu1692=)
c.4887G>C (p.Leu1629=)
c.4884G>C (p.Leu1628=)
c.1104G>C (p.Leu368=)
c.4899G>C (p.Leu1633=)
c.4881G>C (p.Leu1627=)
c.1236G>C (p.Leu412=)
c.4902G>C (p.Leu1634=)
c.5010G>C (p.Leu1670=)
n.11368G>C
n.11359G>C
10g.53806726C>TCA5504518PCDH15c.3935G>A
c.5076G>A (p.Leu1692=)
c.4887G>A (p.Leu1629=)
c.4884G>A (p.Leu1628=)
c.1104G>A (p.Leu368=)
c.4899G>A (p.Leu1633=)
c.4881G>A (p.Leu1627=)
c.1236G>A (p.Leu412=)
c.4902G>A (p.Leu1634=)
c.5010G>A (p.Leu1670=)
n.11368G>A
n.11359G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.53806727A=CA1910756114PCDH15c.3934T=
c.5075T= (p.Leu1692=)
c.4886T= (p.Leu1629=)
c.4883T= (p.Leu1628=)
c.1103T= (p.Leu368=)
c.4898T= (p.Leu1633=)
c.4880T= (p.Leu1627=)
c.1235T= (p.Leu412=)
c.4901T= (p.Leu1634=)
c.5009T= (p.Leu1670=)
n.11367T=
n.11358T=
10g.53806727A>CCA376516120PCDH15c.3934T>G
c.5075T>G (p.Leu1692Arg)
c.4886T>G (p.Leu1629Arg)
c.4883T>G (p.Leu1628Arg)
c.1103T>G (p.Leu368Arg)
c.4898T>G (p.Leu1633Arg)
c.4880T>G (p.Leu1627Arg)
c.1235T>G (p.Leu412Arg)
c.4901T>G (p.Leu1634Arg)
c.5009T>G (p.Leu1670Arg)
n.11367T>G
n.11358T>G
 dbSNP gnomAD v3 gnomAD v4
10g.53806727A>GCA376516121PCDH15c.3934T>C
c.5075T>C (p.Leu1692Pro)
c.4886T>C (p.Leu1629Pro)
c.4883T>C (p.Leu1628Pro)
c.1103T>C (p.Leu368Pro)
c.4898T>C (p.Leu1633Pro)
c.4880T>C (p.Leu1627Pro)
c.1235T>C (p.Leu412Pro)
c.4901T>C (p.Leu1634Pro)
c.5009T>C (p.Leu1670Pro)
n.11367T>C
n.11358T>C
10g.53806727A>TCA376516122PCDH15c.3934T>A
c.5075T>A (p.Leu1692Gln)
c.4886T>A (p.Leu1629Gln)
c.4883T>A (p.Leu1628Gln)
c.1103T>A (p.Leu368Gln)
c.4898T>A (p.Leu1633Gln)
c.4880T>A (p.Leu1627Gln)
c.1235T>A (p.Leu412Gln)
c.4901T>A (p.Leu1634Gln)
c.5009T>A (p.Leu1670Gln)
n.11367T>A
n.11358T>A
10g.53806727_53806728insACTGTGAACA5504517PCDH15c.3934_3935insTCACAGTT
c.5075_5076insTCACAGTT (p.Lys1693HisfsTer3)
c.4886_4887insTCACAGTT (p.Lys1630HisfsTer3)
c.4883_4884insTCACAGTT (p.Lys1629HisfsTer3)
c.1103_1104insTCACAGTT (p.Lys369HisfsTer3)
c.4898_4899insTCACAGTT (p.Lys1634HisfsTer3)
c.4880_4881insTCACAGTT (p.Lys1628HisfsTer3)
c.1235_1236insTCACAGTT (p.Lys413HisfsTer3)
c.4901_4902insTCACAGTT (p.Lys1635HisfsTer3)
c.5009_5010insTCACAGTT (p.Lys1671HisfsTer3)
n.11367_11368insTCACAGTT
n.11358_11359insTCACAGTT
 dbSNP ExAC gnomAD v4
10g.53806728G>ACA469545869PCDH15c.3933C>T
c.5074C>T (p.Leu1692=)
c.4885C>T (p.Leu1629=)
c.4882C>T (p.Leu1628=)
c.1102C>T (p.Leu368=)
c.4897C>T (p.Leu1633=)
c.4879C>T (p.Leu1627=)
c.1234C>T (p.Leu412=)
c.4900C>T (p.Leu1634=)
c.5008C>T (p.Leu1670=)
n.11366C>T
n.11357C>T
10g.53806728G>CCA376516123PCDH15c.3933C>G
c.5074C>G (p.Leu1692Val)
c.4885C>G (p.Leu1629Val)
c.4882C>G (p.Leu1628Val)
c.1102C>G (p.Leu368Val)
c.4897C>G (p.Leu1633Val)
c.4879C>G (p.Leu1627Val)
c.1234C>G (p.Leu412Val)
c.4900C>G (p.Leu1634Val)
c.5008C>G (p.Leu1670Val)
n.11366C>G
n.11357C>G
10g.53806728G>TCA376516124PCDH15c.3933C>A
c.5074C>A (p.Leu1692Met)
c.4885C>A (p.Leu1629Met)
c.4882C>A (p.Leu1628Met)
c.1102C>A (p.Leu368Met)
c.4897C>A (p.Leu1633Met)
c.4879C>A (p.Leu1627Met)
c.1234C>A (p.Leu412Met)
c.4900C>A (p.Leu1634Met)
c.5008C>A (p.Leu1670Met)
n.11366C>A
n.11357C>A
10g.53806729C>ACA376516126PCDH15c.3932G>T
c.5073G>T (p.Arg1691Ser)
c.4884G>T (p.Arg1628Ser)
c.4881G>T (p.Arg1627Ser)
c.1101G>T (p.Arg367Ser)
c.4896G>T (p.Arg1632Ser)
c.4878G>T (p.Arg1626Ser)
c.1233G>T (p.Arg411Ser)
c.4899G>T (p.Arg1633Ser)
c.5007G>T (p.Arg1669Ser)
n.11365G>T
n.11356G>T
10g.53806729C=CA1910756118PCDH15c.3932G=
c.5073G= (p.Arg1691=)
c.4884G= (p.Arg1628=)
c.4881G= (p.Arg1627=)
c.1101G= (p.Arg367=)
c.4896G= (p.Arg1632=)
c.4878G= (p.Arg1626=)
c.1233G= (p.Arg411=)
c.4899G= (p.Arg1633=)
c.5007G= (p.Arg1669=)
n.11365G=
n.11356G=
10g.53806729C>GCA376516127PCDH15c.3932G>C
c.5073G>C (p.Arg1691Ser)
c.4884G>C (p.Arg1628Ser)
c.4881G>C (p.Arg1627Ser)
c.1101G>C (p.Arg367Ser)
c.4896G>C (p.Arg1632Ser)
c.4878G>C (p.Arg1626Ser)
c.1233G>C (p.Arg411Ser)
c.4899G>C (p.Arg1633Ser)
c.5007G>C (p.Arg1669Ser)
n.11365G>C
n.11356G>C
10g.53806729C>TCA5504519PCDH15c.3932G>A
c.5073G>A (p.Arg1691=)
c.4884G>A (p.Arg1628=)
c.4881G>A (p.Arg1627=)
c.1101G>A (p.Arg367=)
c.4896G>A (p.Arg1632=)
c.4878G>A (p.Arg1626=)
c.1233G>A (p.Arg411=)
c.4899G>A (p.Arg1633=)
c.5007G>A (p.Arg1669=)
n.11365G>A
n.11356G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806730C>ACA376516130PCDH15c.3931G>T
c.5072G>T (p.Arg1691Met)
c.4883G>T (p.Arg1628Met)
c.4880G>T (p.Arg1627Met)
c.1100G>T (p.Arg367Met)
c.4895G>T (p.Arg1632Met)
c.4877G>T (p.Arg1626Met)
c.1232G>T (p.Arg411Met)
c.4898G>T (p.Arg1633Met)
c.5006G>T (p.Arg1669Met)
n.11364G>T
n.11355G>T
10g.53806730C=CA1910756121PCDH15c.3931G=
c.5072G= (p.Arg1691=)
c.4883G= (p.Arg1628=)
c.4880G= (p.Arg1627=)
c.1100G= (p.Arg367=)
c.4895G= (p.Arg1632=)
c.4877G= (p.Arg1626=)
c.1232G= (p.Arg411=)
c.4898G= (p.Arg1633=)
c.5006G= (p.Arg1669=)
n.11364G=
n.11355G=
10g.53806730C>GCA207195883PCDH15c.3931G>C
c.5072G>C (p.Arg1691Thr)
c.4883G>C (p.Arg1628Thr)
c.4880G>C (p.Arg1627Thr)
c.1100G>C (p.Arg367Thr)
c.4895G>C (p.Arg1632Thr)
c.4877G>C (p.Arg1626Thr)
c.1232G>C (p.Arg411Thr)
c.4898G>C (p.Arg1633Thr)
c.5006G>C (p.Arg1669Thr)
n.11364G>C
n.11355G>C
 dbSNP gnomAD v3 gnomAD v4
10g.53806730C>TCA376516132PCDH15c.3931G>A
c.5072G>A (p.Arg1691Lys)
c.4883G>A (p.Arg1628Lys)
c.4880G>A (p.Arg1627Lys)
c.1100G>A (p.Arg367Lys)
c.4895G>A (p.Arg1632Lys)
c.4877G>A (p.Arg1626Lys)
c.1232G>A (p.Arg411Lys)
c.4898G>A (p.Arg1633Lys)
c.5006G>A (p.Arg1669Lys)
n.11364G>A
n.11355G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.53806731T>ACA376516136PCDH15c.3930A>T
c.5071A>T (p.Arg1691Trp)
c.4882A>T (p.Arg1628Trp)
c.4879A>T (p.Arg1627Trp)
c.1099A>T (p.Arg367Trp)
c.4894A>T (p.Arg1632Trp)
c.4876A>T (p.Arg1626Trp)
c.1231A>T (p.Arg411Trp)
c.4897A>T (p.Arg1633Trp)
c.5005A>T (p.Arg1669Trp)
n.11363A>T
n.11354A>T
10g.53806731T>CCA376516137PCDH15c.3930A>G
c.5071A>G (p.Arg1691Gly)
c.4882A>G (p.Arg1628Gly)
c.4879A>G (p.Arg1627Gly)
c.1099A>G (p.Arg367Gly)
c.4894A>G (p.Arg1632Gly)
c.4876A>G (p.Arg1626Gly)
c.1231A>G (p.Arg411Gly)
c.4897A>G (p.Arg1633Gly)
c.5005A>G (p.Arg1669Gly)
n.11363A>G
n.11354A>G
10g.53806731T>GCA469545870PCDH15c.3930A>C
c.5071A>C (p.Arg1691=)
c.4882A>C (p.Arg1628=)
c.4879A>C (p.Arg1627=)
c.1099A>C (p.Arg367=)
c.4894A>C (p.Arg1632=)
c.4876A>C (p.Arg1626=)
c.1231A>C (p.Arg411=)
c.4897A>C (p.Arg1633=)
c.5005A>C (p.Arg1669=)
n.11363A>C
n.11354A>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53806731T=CA1910756125PCDH15c.3930A=
c.5071A= (p.Arg1691=)
c.4882A= (p.Arg1628=)
c.4879A= (p.Arg1627=)
c.1099A= (p.Arg367=)
c.4894A= (p.Arg1632=)
c.4876A= (p.Arg1626=)
c.1231A= (p.Arg411=)
c.4897A= (p.Arg1633=)
c.5005A= (p.Arg1669=)
n.11363A=
n.11354A=
10g.53806732G>ACA207195889PCDH15c.3929C>T
c.5070C>T (p.Asn1690=)
c.4881C>T (p.Asn1627=)
c.4878C>T (p.Asn1626=)
c.1098C>T (p.Asn366=)
c.4893C>T (p.Asn1631=)
c.4875C>T (p.Asn1625=)
c.1230C>T (p.Asn410=)
c.4896C>T (p.Asn1632=)
c.5004C>T (p.Asn1668=)
n.11362C>T
n.11353C>T
 dbSNP
10g.53806732G>CCA376516139PCDH15c.3929C>G
c.5070C>G (p.Asn1690Lys)
c.4881C>G (p.Asn1627Lys)
c.4878C>G (p.Asn1626Lys)
c.1098C>G (p.Asn366Lys)
c.4893C>G (p.Asn1631Lys)
c.4875C>G (p.Asn1625Lys)
c.1230C>G (p.Asn410Lys)
c.4896C>G (p.Asn1632Lys)
c.5004C>G (p.Asn1668Lys)
n.11362C>G
n.11353C>G
 dbSNP gnomAD v2 gnomAD v4
10g.53806732G=CA1910756127PCDH15c.3929C=
c.5070C= (p.Asn1690=)
c.4881C= (p.Asn1627=)
c.4878C= (p.Asn1626=)
c.1098C= (p.Asn366=)
c.4893C= (p.Asn1631=)
c.4875C= (p.Asn1625=)
c.1230C= (p.Asn410=)
c.4896C= (p.Asn1632=)
c.5004C= (p.Asn1668=)
n.11362C=
n.11353C=
10g.53806732G>TCA376516140PCDH15c.3929C>A
c.5070C>A (p.Asn1690Lys)
c.4881C>A (p.Asn1627Lys)
c.4878C>A (p.Asn1626Lys)
c.1098C>A (p.Asn366Lys)
c.4893C>A (p.Asn1631Lys)
c.4875C>A (p.Asn1625Lys)
c.1230C>A (p.Asn410Lys)
c.4896C>A (p.Asn1632Lys)
c.5004C>A (p.Asn1668Lys)
n.11362C>A
n.11353C>A
 gnomAD v4
10g.53806733T>ACA376516142PCDH15c.3928A>T
c.5069A>T (p.Asn1690Ile)
c.4880A>T (p.Asn1627Ile)
c.4877A>T (p.Asn1626Ile)
c.1097A>T (p.Asn366Ile)
c.4892A>T (p.Asn1631Ile)
c.4874A>T (p.Asn1625Ile)
c.1229A>T (p.Asn410Ile)
c.4895A>T (p.Asn1632Ile)
c.5003A>T (p.Asn1668Ile)
n.11361A>T
n.11352A>T
10g.53806733T>CCA376516143PCDH15c.3928A>G
c.5069A>G (p.Asn1690Ser)
c.4880A>G (p.Asn1627Ser)
c.4877A>G (p.Asn1626Ser)
c.1097A>G (p.Asn366Ser)
c.4892A>G (p.Asn1631Ser)
c.4874A>G (p.Asn1625Ser)
c.1229A>G (p.Asn410Ser)
c.4895A>G (p.Asn1632Ser)
c.5003A>G (p.Asn1668Ser)
n.11361A>G
n.11352A>G
 gnomAD v4
10g.53806733T>GCA376516144PCDH15c.3928A>C
c.5069A>C (p.Asn1690Thr)
c.4880A>C (p.Asn1627Thr)
c.4877A>C (p.Asn1626Thr)
c.1097A>C (p.Asn366Thr)
c.4892A>C (p.Asn1631Thr)
c.4874A>C (p.Asn1625Thr)
c.1229A>C (p.Asn410Thr)
c.4895A>C (p.Asn1632Thr)
c.5003A>C (p.Asn1668Thr)
n.11361A>C
n.11352A>C
10g.53806734T>ACA5504520PCDH15c.3927A>T
c.5068A>T (p.Asn1690Tyr)
c.4879A>T (p.Asn1627Tyr)
c.4876A>T (p.Asn1626Tyr)
c.1096A>T (p.Asn366Tyr)
c.4891A>T (p.Asn1631Tyr)
c.4873A>T (p.Asn1625Tyr)
c.1228A>T (p.Asn410Tyr)
c.4894A>T (p.Asn1632Tyr)
c.5002A>T (p.Asn1668Tyr)
n.11360A>T
n.11351A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806734T>CCA376516146PCDH15c.3927A>G
c.5068A>G (p.Asn1690Asp)
c.4879A>G (p.Asn1627Asp)
c.4876A>G (p.Asn1626Asp)
c.1096A>G (p.Asn366Asp)
c.4891A>G (p.Asn1631Asp)
c.4873A>G (p.Asn1625Asp)
c.1228A>G (p.Asn410Asp)
c.4894A>G (p.Asn1632Asp)
c.5002A>G (p.Asn1668Asp)
n.11360A>G
n.11351A>G
10g.53806734T>GCA376516148PCDH15c.3927A>C
c.5068A>C (p.Asn1690His)
c.4879A>C (p.Asn1627His)
c.4876A>C (p.Asn1626His)
c.1096A>C (p.Asn366His)
c.4891A>C (p.Asn1631His)
c.4873A>C (p.Asn1625His)
c.1228A>C (p.Asn410His)
c.4894A>C (p.Asn1632His)
c.5002A>C (p.Asn1668His)
n.11360A>C
n.11351A>C
10g.53806734T=CA1910756131PCDH15c.3927A=
c.5068A= (p.Asn1690=)
c.4879A= (p.Asn1627=)
c.4876A= (p.Asn1626=)
c.1096A= (p.Asn366=)
c.4891A= (p.Asn1631=)
c.4873A= (p.Asn1625=)
c.1228A= (p.Asn410=)
c.4894A= (p.Asn1632=)
c.5002A= (p.Asn1668=)
n.11360A=
n.11351A=
10g.53806735C>ACA376516151PCDH15c.3926G>T
c.5067G>T (p.Arg1689Ser)
c.4878G>T (p.Arg1626Ser)
c.4875G>T (p.Arg1625Ser)
c.1095G>T (p.Arg365Ser)
c.4890G>T (p.Arg1630Ser)
c.4872G>T (p.Arg1624Ser)
c.1227G>T (p.Arg409Ser)
c.4893G>T (p.Arg1631Ser)
c.5001G>T (p.Arg1667Ser)
n.11359G>T
n.11350G>T
10g.53806735C=CA1910756136PCDH15c.3926G=
c.5067G= (p.Arg1689=)
c.4878G= (p.Arg1626=)
c.4875G= (p.Arg1625=)
c.1095G= (p.Arg365=)
c.4890G= (p.Arg1630=)
c.4872G= (p.Arg1624=)
c.1227G= (p.Arg409=)
c.4893G= (p.Arg1631=)
c.5001G= (p.Arg1667=)
n.11359G=
n.11350G=
10g.53806735C>GCA376516150PCDH15c.3926G>C
c.5067G>C (p.Arg1689Ser)
c.4878G>C (p.Arg1626Ser)
c.4875G>C (p.Arg1625Ser)
c.1095G>C (p.Arg365Ser)
c.4890G>C (p.Arg1630Ser)
c.4872G>C (p.Arg1624Ser)
c.1227G>C (p.Arg409Ser)
c.4893G>C (p.Arg1631Ser)
c.5001G>C (p.Arg1667Ser)
n.11359G>C
n.11350G>C
10g.53806735C>TCA5504521PCDH15c.3926G>A
c.5067G>A (p.Arg1689=)
c.4878G>A (p.Arg1626=)
c.4875G>A (p.Arg1625=)
c.1095G>A (p.Arg365=)
c.4890G>A (p.Arg1630=)
c.4872G>A (p.Arg1624=)
c.1227G>A (p.Arg409=)
c.4893G>A (p.Arg1631=)
c.5001G>A (p.Arg1667=)
n.11359G>A
n.11350G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806735_53806736insAACA5504522PCDH15c.3925_3926insTT
c.5066_5067insTT (p.Arg1689SerfsTer2)
c.4877_4878insTT (p.Arg1626SerfsTer2)
c.4874_4875insTT (p.Arg1625SerfsTer2)
c.1094_1095insTT (p.Arg365SerfsTer2)
c.4889_4890insTT (p.Arg1630SerfsTer2)
c.4871_4872insTT (p.Arg1624SerfsTer2)
c.1226_1227insTT (p.Arg409SerfsTer2)
c.4892_4893insTT (p.Arg1631SerfsTer2)
c.5000_5001insTT (p.Arg1667SerfsTer2)
n.11358_11359insTT
n.11349_11350insTT
 dbSNP ExAC gnomAD v4
10g.53806736C>ACA207195904PCDH15c.3925G>T
c.5066G>T (p.Arg1689Met)
c.4877G>T (p.Arg1626Met)
c.4874G>T (p.Arg1625Met)
c.1094G>T (p.Arg365Met)
c.4889G>T (p.Arg1630Met)
c.4871G>T (p.Arg1624Met)
c.1226G>T (p.Arg409Met)
c.4892G>T (p.Arg1631Met)
c.5000G>T (p.Arg1667Met)
n.11358G>T
n.11349G>T
 dbSNP
10g.53806736C=CA1910756148PCDH15c.3925G=
c.5066G= (p.Arg1689=)
c.4877G= (p.Arg1626=)
c.4874G= (p.Arg1625=)
c.1094G= (p.Arg365=)
c.4889G= (p.Arg1630=)
c.4871G= (p.Arg1624=)
c.1226G= (p.Arg409=)
c.4892G= (p.Arg1631=)
c.5000G= (p.Arg1667=)
n.11358G=
n.11349G=
10g.53806736C>GCA376516154PCDH15c.3925G>C
c.5066G>C (p.Arg1689Thr)
c.4877G>C (p.Arg1626Thr)
c.4874G>C (p.Arg1625Thr)
c.1094G>C (p.Arg365Thr)
c.4889G>C (p.Arg1630Thr)
c.4871G>C (p.Arg1624Thr)
c.1226G>C (p.Arg409Thr)
c.4892G>C (p.Arg1631Thr)
c.5000G>C (p.Arg1667Thr)
n.11358G>C
n.11349G>C
 gnomAD v4
10g.53806736C>TCA5504524PCDH15c.3925G>A
c.5066G>A (p.Arg1689Lys)
c.4877G>A (p.Arg1626Lys)
c.4874G>A (p.Arg1625Lys)
c.1094G>A (p.Arg365Lys)
c.4889G>A (p.Arg1630Lys)
c.4871G>A (p.Arg1624Lys)
c.1226G>A (p.Arg409Lys)
c.4892G>A (p.Arg1631Lys)
c.5000G>A (p.Arg1667Lys)
n.11358G>A
n.11349G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806736_53806738delinsCTTCA1910756145PCDH15c.3923_3925delinsAAG
c.5064_5066delinsAAG (p.Leu1688=)
c.4875_4877delinsAAG (p.Leu1625=)
c.4872_4874delinsAAG (p.Leu1624=)
c.1092_1094delinsAAG (p.Leu364=)
c.4887_4889delinsAAG (p.Leu1629=)
c.4869_4871delinsAAG (p.Leu1623=)
c.1224_1226delinsAAG (p.Leu408=)
c.4890_4892delinsAAG (p.Leu1630=)
c.4998_5000delinsAAG (p.Leu1666=)
n.11356_11358delinsAAG
n.11347_11349delinsAAG
10g.53806737T>ACA207195920PCDH15c.3924A>T
c.5065A>T (p.Arg1689Trp)
c.4876A>T (p.Arg1626Trp)
c.4873A>T (p.Arg1625Trp)
c.1093A>T (p.Arg365Trp)
c.4888A>T (p.Arg1630Trp)
c.4870A>T (p.Arg1624Trp)
c.1225A>T (p.Arg409Trp)
c.4891A>T (p.Arg1631Trp)
c.4999A>T (p.Arg1667Trp)
n.11357A>T
n.11348A>T
 dbSNP
10g.53806737T>CCA376516156PCDH15c.3924A>G
c.5065A>G (p.Arg1689Gly)
c.4876A>G (p.Arg1626Gly)
c.4873A>G (p.Arg1625Gly)
c.1093A>G (p.Arg365Gly)
c.4888A>G (p.Arg1630Gly)
c.4870A>G (p.Arg1624Gly)
c.1225A>G (p.Arg409Gly)
c.4891A>G (p.Arg1631Gly)
c.4999A>G (p.Arg1667Gly)
n.11357A>G
n.11348A>G
 dbSNP
10g.53806737T>GCA469545871PCDH15c.3924A>C
c.5065A>C (p.Arg1689=)
c.4876A>C (p.Arg1626=)
c.4873A>C (p.Arg1625=)
c.1093A>C (p.Arg365=)
c.4888A>C (p.Arg1630=)
c.4870A>C (p.Arg1624=)
c.1225A>C (p.Arg409=)
c.4891A>C (p.Arg1631=)
c.4999A>C (p.Arg1667=)
n.11357A>C
n.11348A>C
10g.53806737T=CA1910756155PCDH15c.3924A=
c.5065A= (p.Arg1689=)
c.4876A= (p.Arg1626=)
c.4873A= (p.Arg1625=)
c.1093A= (p.Arg365=)
c.4888A= (p.Arg1630=)
c.4870A= (p.Arg1624=)
c.1225A= (p.Arg409=)
c.4891A= (p.Arg1631=)
c.4999A= (p.Arg1667=)
n.11357A=
n.11348A=
10g.53806737_53806738delCA5504523PCDH15c.3923_3924del
c.5064_5065del (p.Arg1689GlufsTer8)
c.4875_4876del (p.Arg1626GlufsTer8)
c.4872_4873del (p.Arg1625GlufsTer8)
c.1092_1093del (p.Arg365GlufsTer8)
c.4887_4888del (p.Arg1630GlufsTer8)
c.4869_4870del (p.Arg1624GlufsTer8)
c.1224_1225del (p.Arg409GlufsTer8)
c.4890_4891del (p.Arg1631GlufsTer8)
c.4998_4999del (p.Arg1667GlufsTer8)
n.11356_11357del
n.11347_11348del
 dbSNP ExAC gnomAD v4
10g.53806738T>ACA469545872PCDH15c.3923A>T
c.5064A>T (p.Leu1688=)
c.4875A>T (p.Leu1625=)
c.4872A>T (p.Leu1624=)
c.1092A>T (p.Leu364=)
c.4887A>T (p.Leu1629=)
c.4869A>T (p.Leu1623=)
c.1224A>T (p.Leu408=)
c.4890A>T (p.Leu1630=)
c.4998A>T (p.Leu1666=)
n.11356A>T
n.11347A>T
10g.53806738T>CCA207195928PCDH15c.3923A>G
c.5064A>G (p.Leu1688=)
c.4875A>G (p.Leu1625=)
c.4872A>G (p.Leu1624=)
c.1092A>G (p.Leu364=)
c.4887A>G (p.Leu1629=)
c.4869A>G (p.Leu1623=)
c.1224A>G (p.Leu408=)
c.4890A>G (p.Leu1630=)
c.4998A>G (p.Leu1666=)
n.11356A>G
n.11347A>G
 dbSNP
10g.53806738T>GCA469545873PCDH15c.3923A>C
c.5064A>C (p.Leu1688=)
c.4875A>C (p.Leu1625=)
c.4872A>C (p.Leu1624=)
c.1092A>C (p.Leu364=)
c.4887A>C (p.Leu1629=)
c.4869A>C (p.Leu1623=)
c.1224A>C (p.Leu408=)
c.4890A>C (p.Leu1630=)
c.4998A>C (p.Leu1666=)
n.11356A>C
n.11347A>C
10g.53806738T=CA1910756162PCDH15c.3923A=
c.5064A= (p.Leu1688=)
c.4875A= (p.Leu1625=)
c.4872A= (p.Leu1624=)
c.1092A= (p.Leu364=)
c.4887A= (p.Leu1629=)
c.4869A= (p.Leu1623=)
c.1224A= (p.Leu408=)
c.4890A= (p.Leu1630=)
c.4998A= (p.Leu1666=)
n.11356A=
n.11347A=
10g.53806739A>CCA376516159PCDH15c.3922T>G
c.5063T>G (p.Leu1688Arg)
c.4874T>G (p.Leu1625Arg)
c.4871T>G (p.Leu1624Arg)
c.1091T>G (p.Leu364Arg)
c.4886T>G (p.Leu1629Arg)
c.4868T>G (p.Leu1623Arg)
c.1223T>G (p.Leu408Arg)
c.4889T>G (p.Leu1630Arg)
c.4997T>G (p.Leu1666Arg)
n.11355T>G
n.11346T>G
10g.53806739A>GCA376516161PCDH15c.3922T>C
c.5063T>C (p.Leu1688Pro)
c.4874T>C (p.Leu1625Pro)
c.4871T>C (p.Leu1624Pro)
c.1091T>C (p.Leu364Pro)
c.4886T>C (p.Leu1629Pro)
c.4868T>C (p.Leu1623Pro)
c.1223T>C (p.Leu408Pro)
c.4889T>C (p.Leu1630Pro)
c.4997T>C (p.Leu1666Pro)
n.11355T>C
n.11346T>C
10g.53806739A>TCA376516160PCDH15c.3922T>A
c.5063T>A (p.Leu1688Gln)
c.4874T>A (p.Leu1625Gln)
c.4871T>A (p.Leu1624Gln)
c.1091T>A (p.Leu364Gln)
c.4886T>A (p.Leu1629Gln)
c.4868T>A (p.Leu1623Gln)
c.1223T>A (p.Leu408Gln)
c.4889T>A (p.Leu1630Gln)
c.4997T>A (p.Leu1666Gln)
n.11355T>A
n.11346T>A
10g.53806740G>ACA469545874PCDH15c.3921C>T
c.5062C>T (p.Leu1688=)
c.4873C>T (p.Leu1625=)
c.4870C>T (p.Leu1624=)
c.1090C>T (p.Leu364=)
c.4885C>T (p.Leu1629=)
c.4867C>T (p.Leu1623=)
c.1222C>T (p.Leu408=)
c.4888C>T (p.Leu1630=)
c.4996C>T (p.Leu1666=)
n.11354C>T
n.11345C>T
10g.53806740G>CCA376516162PCDH15c.3921C>G
c.5062C>G (p.Leu1688Val)
c.4873C>G (p.Leu1625Val)
c.4870C>G (p.Leu1624Val)
c.1090C>G (p.Leu364Val)
c.4885C>G (p.Leu1629Val)
c.4867C>G (p.Leu1623Val)
c.1222C>G (p.Leu408Val)
c.4888C>G (p.Leu1630Val)
c.4996C>G (p.Leu1666Val)
n.11354C>G
n.11345C>G
10g.53806740G>TCA376516163PCDH15c.3921C>A
c.5062C>A (p.Leu1688Ile)
c.4873C>A (p.Leu1625Ile)
c.4870C>A (p.Leu1624Ile)
c.1090C>A (p.Leu364Ile)
c.4885C>A (p.Leu1629Ile)
c.4867C>A (p.Leu1623Ile)
c.1222C>A (p.Leu408Ile)
c.4888C>A (p.Leu1630Ile)
c.4996C>A (p.Leu1666Ile)
n.11354C>A
n.11345C>A
10g.53806741T>ACA469545875PCDH15c.3920A>T
c.5061A>T (p.Pro1687=)
c.4872A>T (p.Pro1624=)
c.4869A>T (p.Pro1623=)
c.1089A>T (p.Pro363=)
c.4884A>T (p.Pro1628=)
c.4866A>T (p.Pro1622=)
c.1221A>T (p.Pro407=)
c.4887A>T (p.Pro1629=)
c.4995A>T (p.Pro1665=)
n.11353A>T
n.11344A>T
 dbSNP gnomAD v4
10g.53806741T>CCA5504525PCDH15c.3920A>G
c.5061A>G (p.Pro1687=)
c.4872A>G (p.Pro1624=)
c.4869A>G (p.Pro1623=)
c.1089A>G (p.Pro363=)
c.4884A>G (p.Pro1628=)
c.4866A>G (p.Pro1622=)
c.1221A>G (p.Pro407=)
c.4887A>G (p.Pro1629=)
c.4995A>G (p.Pro1665=)
n.11353A>G
n.11344A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806741T>GCA469545876PCDH15c.3920A>C
c.5061A>C (p.Pro1687=)
c.4872A>C (p.Pro1624=)
c.4869A>C (p.Pro1623=)
c.1089A>C (p.Pro363=)
c.4884A>C (p.Pro1628=)
c.4866A>C (p.Pro1622=)
c.1221A>C (p.Pro407=)
c.4887A>C (p.Pro1629=)
c.4995A>C (p.Pro1665=)
n.11353A>C
n.11344A>C
10g.53806741T=CA1910756164PCDH15c.3920A=
c.5061A= (p.Pro1687=)
c.4872A= (p.Pro1624=)
c.4869A= (p.Pro1623=)
c.1089A= (p.Pro363=)
c.4884A= (p.Pro1628=)
c.4866A= (p.Pro1622=)
c.1221A= (p.Pro407=)
c.4887A= (p.Pro1629=)
c.4995A= (p.Pro1665=)
n.11353A=
n.11344A=
10g.53806742G>ACA376516170PCDH15c.3919C>T
c.5060C>T (p.Pro1687Leu)
c.4871C>T (p.Pro1624Leu)
c.4868C>T (p.Pro1623Leu)
c.1088C>T (p.Pro363Leu)
c.4883C>T (p.Pro1628Leu)
c.4865C>T (p.Pro1622Leu)
c.1220C>T (p.Pro407Leu)
c.4886C>T (p.Pro1629Leu)
c.4994C>T (p.Pro1665Leu)
n.11352C>T
n.11343C>T
 COSMIC
10g.53806742G>CCA376516166PCDH15c.3919C>G
c.5060C>G (p.Pro1687Arg)
c.4871C>G (p.Pro1624Arg)
c.4868C>G (p.Pro1623Arg)
c.1088C>G (p.Pro363Arg)
c.4883C>G (p.Pro1628Arg)
c.4865C>G (p.Pro1622Arg)
c.1220C>G (p.Pro407Arg)
c.4886C>G (p.Pro1629Arg)
c.4994C>G (p.Pro1665Arg)
n.11352C>G
n.11343C>G
10g.53806742G>TCA376516168PCDH15c.3919C>A
c.5060C>A (p.Pro1687Gln)
c.4871C>A (p.Pro1624Gln)
c.4868C>A (p.Pro1623Gln)
c.1088C>A (p.Pro363Gln)
c.4883C>A (p.Pro1628Gln)
c.4865C>A (p.Pro1622Gln)
c.1220C>A (p.Pro407Gln)
c.4886C>A (p.Pro1629Gln)
c.4994C>A (p.Pro1665Gln)
n.11352C>A
n.11343C>A
10g.53806743G>ACA376516172PCDH15c.3918C>T
c.5059C>T (p.Pro1687Ser)
c.4870C>T (p.Pro1624Ser)
c.4867C>T (p.Pro1623Ser)
c.1087C>T (p.Pro363Ser)
c.4882C>T (p.Pro1628Ser)
c.4864C>T (p.Pro1622Ser)
c.1219C>T (p.Pro407Ser)
c.4885C>T (p.Pro1629Ser)
c.4993C>T (p.Pro1665Ser)
n.11351C>T
n.11342C>T
10g.53806743G>CCA376516174PCDH15c.3918C>G
c.5059C>G (p.Pro1687Ala)
c.4870C>G (p.Pro1624Ala)
c.4867C>G (p.Pro1623Ala)
c.1087C>G (p.Pro363Ala)
c.4882C>G (p.Pro1628Ala)
c.4864C>G (p.Pro1622Ala)
c.1219C>G (p.Pro407Ala)
c.4885C>G (p.Pro1629Ala)
c.4993C>G (p.Pro1665Ala)
n.11351C>G
n.11342C>G
10g.53806743G=CA1910756169PCDH15c.3918C=
c.5059C= (p.Pro1687=)
c.4870C= (p.Pro1624=)
c.4867C= (p.Pro1623=)
c.1087C= (p.Pro363=)
c.4882C= (p.Pro1628=)
c.4864C= (p.Pro1622=)
c.1219C= (p.Pro407=)
c.4885C= (p.Pro1629=)
c.4993C= (p.Pro1665=)
n.11351C=
n.11342C=
10g.53806743G>TCA5504526PCDH15c.3918C>A
c.5059C>A (p.Pro1687Thr)
c.4870C>A (p.Pro1624Thr)
c.4867C>A (p.Pro1623Thr)
c.1087C>A (p.Pro363Thr)
c.4882C>A (p.Pro1628Thr)
c.4864C>A (p.Pro1622Thr)
c.1219C>A (p.Pro407Thr)
c.4885C>A (p.Pro1629Thr)
c.4993C>A (p.Pro1665Thr)
n.11351C>A
n.11342C>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
10g.53806744C>ACA376516176PCDH15c.3917G>T
c.5058G>T (p.Lys1686Asn)
c.4869G>T (p.Lys1623Asn)
c.4866G>T (p.Lys1622Asn)
c.1086G>T (p.Lys362Asn)
c.4881G>T (p.Lys1627Asn)
c.4863G>T (p.Lys1621Asn)
c.1218G>T (p.Lys406Asn)
c.4884G>T (p.Lys1628Asn)
c.4992G>T (p.Lys1664Asn)
n.11350G>T
n.11341G>T
10g.53806744C=CA1910756170PCDH15c.3917G=
c.5058G= (p.Lys1686=)
c.4869G= (p.Lys1623=)
c.4866G= (p.Lys1622=)
c.1086G= (p.Lys362=)
c.4881G= (p.Lys1627=)
c.4863G= (p.Lys1621=)
c.1218G= (p.Lys406=)
c.4884G= (p.Lys1628=)
c.4992G= (p.Lys1664=)
n.11350G=
n.11341G=
10g.53806744C>GCA376516177PCDH15c.3917G>C
c.5058G>C (p.Lys1686Asn)
c.4869G>C (p.Lys1623Asn)
c.4866G>C (p.Lys1622Asn)
c.1086G>C (p.Lys362Asn)
c.4881G>C (p.Lys1627Asn)
c.4863G>C (p.Lys1621Asn)
c.1218G>C (p.Lys406Asn)
c.4884G>C (p.Lys1628Asn)
c.4992G>C (p.Lys1664Asn)
n.11350G>C
n.11341G>C
10g.53806744C>TCA5504527PCDH15c.3917G>A
c.5058G>A (p.Lys1686=)
c.4869G>A (p.Lys1623=)
c.4866G>A (p.Lys1622=)
c.1086G>A (p.Lys362=)
c.4881G>A (p.Lys1627=)
c.4863G>A (p.Lys1621=)
c.1218G>A (p.Lys406=)
c.4884G>A (p.Lys1628=)
c.4992G>A (p.Lys1664=)
n.11350G>A
n.11341G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806745T>ACA376516183PCDH15c.3916A>T
c.5057A>T (p.Lys1686Met)
c.4868A>T (p.Lys1623Met)
c.4865A>T (p.Lys1622Met)
c.1085A>T (p.Lys362Met)
c.4880A>T (p.Lys1627Met)
c.4862A>T (p.Lys1621Met)
c.1217A>T (p.Lys406Met)
c.4883A>T (p.Lys1628Met)
c.4991A>T (p.Lys1664Met)
n.11349A>T
n.11340A>T
10g.53806745T>CCA376516185PCDH15c.3916A>G
c.5057A>G (p.Lys1686Arg)
c.4868A>G (p.Lys1623Arg)
c.4865A>G (p.Lys1622Arg)
c.1085A>G (p.Lys362Arg)
c.4880A>G (p.Lys1627Arg)
c.4862A>G (p.Lys1621Arg)
c.1217A>G (p.Lys406Arg)
c.4883A>G (p.Lys1628Arg)
c.4991A>G (p.Lys1664Arg)
n.11349A>G
n.11340A>G
 COSMIC
10g.53806745T>GCA376516187PCDH15c.3916A>C
c.5057A>C (p.Lys1686Thr)
c.4868A>C (p.Lys1623Thr)
c.4865A>C (p.Lys1622Thr)
c.1085A>C (p.Lys362Thr)
c.4880A>C (p.Lys1627Thr)
c.4862A>C (p.Lys1621Thr)
c.1217A>C (p.Lys406Thr)
c.4883A>C (p.Lys1628Thr)
c.4991A>C (p.Lys1664Thr)
n.11349A>C
n.11340A>C
10g.53806746T>ACA376516189PCDH15c.3915A>T
c.5056A>T (p.Lys1686Ter)
c.4867A>T (p.Lys1623Ter)
c.4864A>T (p.Lys1622Ter)
c.1084A>T (p.Lys362Ter)
c.4879A>T (p.Lys1627Ter)
c.4861A>T (p.Lys1621Ter)
c.1216A>T (p.Lys406Ter)
c.4882A>T (p.Lys1628Ter)
c.4990A>T (p.Lys1664Ter)
n.11348A>T
n.11339A>T
10g.53806746T>CCA376516191PCDH15c.3915A>G
c.5056A>G (p.Lys1686Glu)
c.4867A>G (p.Lys1623Glu)
c.4864A>G (p.Lys1622Glu)
c.1084A>G (p.Lys362Glu)
c.4879A>G (p.Lys1627Glu)
c.4861A>G (p.Lys1621Glu)
c.1216A>G (p.Lys406Glu)
c.4882A>G (p.Lys1628Glu)
c.4990A>G (p.Lys1664Glu)
n.11348A>G
n.11339A>G
10g.53806746T>GCA376516193PCDH15c.3915A>C
c.5056A>C (p.Lys1686Gln)
c.4867A>C (p.Lys1623Gln)
c.4864A>C (p.Lys1622Gln)
c.1084A>C (p.Lys362Gln)
c.4879A>C (p.Lys1627Gln)
c.4861A>C (p.Lys1621Gln)
c.1216A>C (p.Lys406Gln)
c.4882A>C (p.Lys1628Gln)
c.4990A>C (p.Lys1664Gln)
n.11348A>C
n.11339A>C
10g.53806747C>ACA469545879PCDH15c.3914G>T
c.5055G>T (p.Val1685=)
c.4866G>T (p.Val1622=)
c.4863G>T (p.Val1621=)
c.1083G>T (p.Val361=)
c.4878G>T (p.Val1626=)
c.4860G>T (p.Val1620=)
c.1215G>T (p.Val405=)
c.4881G>T (p.Val1627=)
c.4989G>T (p.Val1663=)
n.11347G>T
n.11338G>T
10g.53806747C=CA1910756172PCDH15c.3914G=
c.5055G= (p.Val1685=)
c.4866G= (p.Val1622=)
c.4863G= (p.Val1621=)
c.1083G= (p.Val361=)
c.4878G= (p.Val1626=)
c.4860G= (p.Val1620=)
c.1215G= (p.Val405=)
c.4881G= (p.Val1627=)
c.4989G= (p.Val1663=)
n.11347G=
n.11338G=
10g.53806747C>GCA469545880PCDH15c.3914G>C
c.5055G>C (p.Val1685=)
c.4866G>C (p.Val1622=)
c.4863G>C (p.Val1621=)
c.1083G>C (p.Val361=)
c.4878G>C (p.Val1626=)
c.4860G>C (p.Val1620=)
c.1215G>C (p.Val405=)
c.4881G>C (p.Val1627=)
c.4989G>C (p.Val1663=)
n.11347G>C
n.11338G>C
10g.53806747C>TCA5504528PCDH15c.3914G>A
c.5055G>A (p.Val1685=)
c.4866G>A (p.Val1622=)
c.4863G>A (p.Val1621=)
c.1083G>A (p.Val361=)
c.4878G>A (p.Val1626=)
c.4860G>A (p.Val1620=)
c.1215G>A (p.Val405=)
c.4881G>A (p.Val1627=)
c.4989G>A (p.Val1663=)
n.11347G>A
n.11338G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.53806748A=CA1910756176PCDH15c.3913T=
c.5054T= (p.Val1685=)
c.4865T= (p.Val1622=)
c.4862T= (p.Val1621=)
c.1082T= (p.Val361=)
c.4877T= (p.Val1626=)
c.4859T= (p.Val1620=)
c.1214T= (p.Val405=)
c.4880T= (p.Val1627=)
c.4988T= (p.Val1663=)
n.11346T=
n.11337T=
10g.53806748A>CCA376516194PCDH15c.3913T>G
c.5054T>G (p.Val1685Gly)
c.4865T>G (p.Val1622Gly)
c.4862T>G (p.Val1621Gly)
c.1082T>G (p.Val361Gly)
c.4877T>G (p.Val1626Gly)
c.4859T>G (p.Val1620Gly)
c.1214T>G (p.Val405Gly)
c.4880T>G (p.Val1627Gly)
c.4988T>G (p.Val1663Gly)
n.11346T>G
n.11337T>G
10g.53806748A>GCA5504529PCDH15c.3913T>C
c.5054T>C (p.Val1685Ala)
c.4865T>C (p.Val1622Ala)
c.4862T>C (p.Val1621Ala)
c.1082T>C (p.Val361Ala)
c.4877T>C (p.Val1626Ala)
c.4859T>C (p.Val1620Ala)
c.1214T>C (p.Val405Ala)
c.4880T>C (p.Val1627Ala)
c.4988T>C (p.Val1663Ala)
n.11346T>C
n.11337T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806748A>TCA376516195PCDH15c.3913T>A
c.5054T>A (p.Val1685Glu)
c.4865T>A (p.Val1622Glu)
c.4862T>A (p.Val1621Glu)
c.1082T>A (p.Val361Glu)
c.4877T>A (p.Val1626Glu)
c.4859T>A (p.Val1620Glu)
c.1214T>A (p.Val405Glu)
c.4880T>A (p.Val1627Glu)
c.4988T>A (p.Val1663Glu)
n.11346T>A
n.11337T>A
10g.53806749C>ACA376516197PCDH15c.3912G>T
c.5053G>T (p.Val1685Leu)
c.4864G>T (p.Val1622Leu)
c.4861G>T (p.Val1621Leu)
c.1081G>T (p.Val361Leu)
c.4876G>T (p.Val1626Leu)
c.4858G>T (p.Val1620Leu)
c.1213G>T (p.Val405Leu)
c.4879G>T (p.Val1627Leu)
c.4987G>T (p.Val1663Leu)
n.11345G>T
n.11336G>T
10g.53806749C>GCA376516198PCDH15c.3912G>C
c.5053G>C (p.Val1685Leu)
c.4864G>C (p.Val1622Leu)
c.4861G>C (p.Val1621Leu)
c.1081G>C (p.Val361Leu)
c.4876G>C (p.Val1626Leu)
c.4858G>C (p.Val1620Leu)
c.1213G>C (p.Val405Leu)
c.4879G>C (p.Val1627Leu)
c.4987G>C (p.Val1663Leu)
n.11345G>C
n.11336G>C
 gnomAD v4 COSMIC
10g.53806749C>TCA376516199PCDH15c.3912G>A
c.5053G>A (p.Val1685Met)
c.4864G>A (p.Val1622Met)
c.4861G>A (p.Val1621Met)
c.1081G>A (p.Val361Met)
c.4876G>A (p.Val1626Met)
c.4858G>A (p.Val1620Met)
c.1213G>A (p.Val405Met)
c.4879G>A (p.Val1627Met)
c.4987G>A (p.Val1663Met)
n.11345G>A
n.11336G>A
 gnomAD v4
10g.53806750C>ACA469545881PCDH15c.3911G>T
c.5052G>T (p.Ala1684=)
c.4863G>T (p.Ala1621=)
c.4860G>T (p.Ala1620=)
c.1080G>T (p.Ala360=)
c.4875G>T (p.Ala1625=)
c.4857G>T (p.Ala1619=)
c.1212G>T (p.Ala404=)
c.4878G>T (p.Ala1626=)
c.4986G>T (p.Ala1662=)
n.11344G>T
n.11335G>T
10g.53806750C=CA1910756181PCDH15c.3911G=
c.5052G= (p.Ala1684=)
c.4863G= (p.Ala1621=)
c.4860G= (p.Ala1620=)
c.1080G= (p.Ala360=)
c.4875G= (p.Ala1625=)
c.4857G= (p.Ala1619=)
c.1212G= (p.Ala404=)
c.4878G= (p.Ala1626=)
c.4986G= (p.Ala1662=)
n.11344G=
n.11335G=
10g.53806750C>GCA469545882PCDH15c.3911G>C
c.5052G>C (p.Ala1684=)
c.4863G>C (p.Ala1621=)
c.4860G>C (p.Ala1620=)
c.1080G>C (p.Ala360=)
c.4875G>C (p.Ala1625=)
c.4857G>C (p.Ala1619=)
c.1212G>C (p.Ala404=)
c.4878G>C (p.Ala1626=)
c.4986G>C (p.Ala1662=)
n.11344G>C
n.11335G>C
10g.53806750C>TCA5504530PCDH15c.3911G>A
c.5052G>A (p.Ala1684=)
c.4863G>A (p.Ala1621=)
c.4860G>A (p.Ala1620=)
c.1080G>A (p.Ala360=)
c.4875G>A (p.Ala1625=)
c.4857G>A (p.Ala1619=)
c.1212G>A (p.Ala404=)
c.4878G>A (p.Ala1626=)
c.4986G>A (p.Ala1662=)
n.11344G>A
n.11335G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.53806751G>ACA5504531PCDH15c.3910C>T
c.5051C>T (p.Ala1684Val)
c.4862C>T (p.Ala1621Val)
c.4859C>T (p.Ala1620Val)
c.1079C>T (p.Ala360Val)
c.4874C>T (p.Ala1625Val)
c.4856C>T (p.Ala1619Val)
c.1211C>T (p.Ala404Val)
c.4877C>T (p.Ala1626Val)
c.4985C>T (p.Ala1662Val)
n.11343C>T
n.11334C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806751G>CCA376516208PCDH15c.3910C>G
c.5051C>G (p.Ala1684Gly)
c.4862C>G (p.Ala1621Gly)
c.4859C>G (p.Ala1620Gly)
c.1079C>G (p.Ala360Gly)
c.4874C>G (p.Ala1625Gly)
c.4856C>G (p.Ala1619Gly)
c.1211C>G (p.Ala404Gly)
c.4877C>G (p.Ala1626Gly)
c.4985C>G (p.Ala1662Gly)
n.11343C>G
n.11334C>G
10g.53806751G=CA1910756185PCDH15c.3910C=
c.5051C= (p.Ala1684=)
c.4862C= (p.Ala1621=)
c.4859C= (p.Ala1620=)
c.1079C= (p.Ala360=)
c.4874C= (p.Ala1625=)
c.4856C= (p.Ala1619=)
c.1211C= (p.Ala404=)
c.4877C= (p.Ala1626=)
c.4985C= (p.Ala1662=)
n.11343C=
n.11334C=
10g.53806751G>TCA376516209PCDH15c.3910C>A
c.5051C>A (p.Ala1684Glu)
c.4862C>A (p.Ala1621Glu)
c.4859C>A (p.Ala1620Glu)
c.1079C>A (p.Ala360Glu)
c.4874C>A (p.Ala1625Glu)
c.4856C>A (p.Ala1619Glu)
c.1211C>A (p.Ala404Glu)
c.4877C>A (p.Ala1626Glu)
c.4985C>A (p.Ala1662Glu)
n.11343C>A
n.11334C>A
 dbSNP gnomAD v2 gnomAD v4
10g.53806752C>ACA376516210PCDH15c.3909G>T
c.5050G>T (p.Ala1684Ser)
c.4861G>T (p.Ala1621Ser)
c.4858G>T (p.Ala1620Ser)
c.1078G>T (p.Ala360Ser)
c.4873G>T (p.Ala1625Ser)
c.4855G>T (p.Ala1619Ser)
c.1210G>T (p.Ala404Ser)
c.4876G>T (p.Ala1626Ser)
c.4984G>T (p.Ala1662Ser)
n.11342G>T
n.11333G>T
10g.53806752C>GCA376516212PCDH15c.3909G>C
c.5050G>C (p.Ala1684Pro)
c.4861G>C (p.Ala1621Pro)
c.4858G>C (p.Ala1620Pro)
c.1078G>C (p.Ala360Pro)
c.4873G>C (p.Ala1625Pro)
c.4855G>C (p.Ala1619Pro)
c.1210G>C (p.Ala404Pro)
c.4876G>C (p.Ala1626Pro)
c.4984G>C (p.Ala1662Pro)
n.11342G>C
n.11333G>C
10g.53806752C>TCA376516213PCDH15c.3909G>A
c.5050G>A (p.Ala1684Thr)
c.4861G>A (p.Ala1621Thr)
c.4858G>A (p.Ala1620Thr)
c.1078G>A (p.Ala360Thr)
c.4873G>A (p.Ala1625Thr)
c.4855G>A (p.Ala1619Thr)
c.1210G>A (p.Ala404Thr)
c.4876G>A (p.Ala1626Thr)
c.4984G>A (p.Ala1662Thr)
n.11342G>A
n.11333G>A
10g.53806753T>ACA469545883PCDH15c.3908A>T
c.5049A>T (p.Thr1683=)
c.4860A>T (p.Thr1620=)
c.4857A>T (p.Thr1619=)
c.1077A>T (p.Thr359=)
c.4872A>T (p.Thr1624=)
c.4854A>T (p.Thr1618=)
c.1209A>T (p.Thr403=)
c.4875A>T (p.Thr1625=)
c.4983A>T (p.Thr1661=)
n.11341A>T
n.11332A>T
10g.53806753T>CCA469545884PCDH15c.3908A>G
c.5049A>G (p.Thr1683=)
c.4860A>G (p.Thr1620=)
c.4857A>G (p.Thr1619=)
c.1077A>G (p.Thr359=)
c.4872A>G (p.Thr1624=)
c.4854A>G (p.Thr1618=)
c.1209A>G (p.Thr403=)
c.4875A>G (p.Thr1625=)
c.4983A>G (p.Thr1661=)
n.11341A>G
n.11332A>G
 dbSNP gnomAD v4
10g.53806753T>GCA469545885PCDH15c.3908A>C
c.5049A>C (p.Thr1683=)
c.4860A>C (p.Thr1620=)
c.4857A>C (p.Thr1619=)
c.1077A>C (p.Thr359=)
c.4872A>C (p.Thr1624=)
c.4854A>C (p.Thr1618=)
c.1209A>C (p.Thr403=)
c.4875A>C (p.Thr1625=)
c.4983A>C (p.Thr1661=)
n.11341A>C
n.11332A>C
10g.53806753T=CA1910756186PCDH15c.3908A=
c.5049A= (p.Thr1683=)
c.4860A= (p.Thr1620=)
c.4857A= (p.Thr1619=)
c.1077A= (p.Thr359=)
c.4872A= (p.Thr1624=)
c.4854A= (p.Thr1618=)
c.1209A= (p.Thr403=)
c.4875A= (p.Thr1625=)
c.4983A= (p.Thr1661=)
n.11341A=
n.11332A=
10g.53806754G>ACA376516216PCDH15c.3907C>T
c.5048C>T (p.Thr1683Ile)
c.4859C>T (p.Thr1620Ile)
c.4856C>T (p.Thr1619Ile)
c.1076C>T (p.Thr359Ile)
c.4871C>T (p.Thr1624Ile)
c.4853C>T (p.Thr1618Ile)
c.1208C>T (p.Thr403Ile)
c.4874C>T (p.Thr1625Ile)
c.4982C>T (p.Thr1661Ile)
n.11340C>T
n.11331C>T
10g.53806754G>CCA376516215PCDH15c.3907C>G
c.5048C>G (p.Thr1683Arg)
c.4859C>G (p.Thr1620Arg)
c.4856C>G (p.Thr1619Arg)
c.1076C>G (p.Thr359Arg)
c.4871C>G (p.Thr1624Arg)
c.4853C>G (p.Thr1618Arg)
c.1208C>G (p.Thr403Arg)
c.4874C>G (p.Thr1625Arg)
c.4982C>G (p.Thr1661Arg)
n.11340C>G
n.11331C>G
10g.53806754G>TCA376516214PCDH15c.3907C>A
c.5048C>A (p.Thr1683Lys)
c.4859C>A (p.Thr1620Lys)
c.4856C>A (p.Thr1619Lys)
c.1076C>A (p.Thr359Lys)
c.4871C>A (p.Thr1624Lys)
c.4853C>A (p.Thr1618Lys)
c.1208C>A (p.Thr403Lys)
c.4874C>A (p.Thr1625Lys)
c.4982C>A (p.Thr1661Lys)
n.11340C>A
n.11331C>A
10g.53806755T>ACA376516222PCDH15c.3906A>T
c.5047A>T (p.Thr1683Ser)
c.4858A>T (p.Thr1620Ser)
c.4855A>T (p.Thr1619Ser)
c.1075A>T (p.Thr359Ser)
c.4870A>T (p.Thr1624Ser)
c.4852A>T (p.Thr1618Ser)
c.1207A>T (p.Thr403Ser)
c.4873A>T (p.Thr1625Ser)
c.4981A>T (p.Thr1661Ser)
n.11339A>T
n.11330A>T
10g.53806755T>CCA376516218PCDH15c.3906A>G
c.5047A>G (p.Thr1683Ala)
c.4858A>G (p.Thr1620Ala)
c.4855A>G (p.Thr1619Ala)
c.1075A>G (p.Thr359Ala)
c.4870A>G (p.Thr1624Ala)
c.4852A>G (p.Thr1618Ala)
c.1207A>G (p.Thr403Ala)
c.4873A>G (p.Thr1625Ala)
c.4981A>G (p.Thr1661Ala)
n.11339A>G
n.11330A>G
 gnomAD v4
10g.53806755T>GCA376516220PCDH15c.3906A>C
c.5047A>C (p.Thr1683Pro)
c.4858A>C (p.Thr1620Pro)
c.4855A>C (p.Thr1619Pro)
c.1075A>C (p.Thr359Pro)
c.4870A>C (p.Thr1624Pro)
c.4852A>C (p.Thr1618Pro)
c.1207A>C (p.Thr403Pro)
c.4873A>C (p.Thr1625Pro)
c.4981A>C (p.Thr1661Pro)
n.11339A>C
n.11330A>C
10g.53806755_53806762dupCA2609218339PCDH15c.3899_3906dup
c.5040_5047dup (p.Thr1683MetfsTer6)
c.4851_4858dup (p.Thr1620MetfsTer6)
c.4848_4855dup (p.Thr1619MetfsTer6)
c.1068_1075dup (p.Thr359MetfsTer6)
c.4863_4870dup (p.Thr1624MetfsTer6)
c.4845_4852dup (p.Thr1618MetfsTer6)
c.1200_1207dup (p.Thr403MetfsTer6)
c.4866_4873dup (p.Thr1625MetfsTer6)
c.4974_4981dup (p.Thr1661MetfsTer6)
n.11332_11339dup
n.11323_11330dup
 gnomAD v4
10g.53806756A=CA1910756188PCDH15c.3905T=
c.5046T= (p.Asn1682=)
c.4857T= (p.Asn1619=)
c.4854T= (p.Asn1618=)
c.1074T= (p.Asn358=)
c.4869T= (p.Asn1623=)
c.4851T= (p.Asn1617=)
c.1206T= (p.Asn402=)
c.4872T= (p.Asn1624=)
c.4980T= (p.Asn1660=)
n.11338T=
n.11329T=
10g.53806756A>CCA376516224PCDH15c.3905T>G
c.5046T>G (p.Asn1682Lys)
c.4857T>G (p.Asn1619Lys)
c.4854T>G (p.Asn1618Lys)
c.1074T>G (p.Asn358Lys)
c.4869T>G (p.Asn1623Lys)
c.4851T>G (p.Asn1617Lys)
c.1206T>G (p.Asn402Lys)
c.4872T>G (p.Asn1624Lys)
c.4980T>G (p.Asn1660Lys)
n.11338T>G
n.11329T>G
10g.53806756A>GCA5504532PCDH15c.3905T>C
c.5046T>C (p.Asn1682=)
c.4857T>C (p.Asn1619=)
c.4854T>C (p.Asn1618=)
c.1074T>C (p.Asn358=)
c.4869T>C (p.Asn1623=)
c.4851T>C (p.Asn1617=)
c.1206T>C (p.Asn402=)
c.4872T>C (p.Asn1624=)
c.4980T>C (p.Asn1660=)
n.11338T>C
n.11329T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806756A>TCA376516227PCDH15c.3905T>A
c.5046T>A (p.Asn1682Lys)
c.4857T>A (p.Asn1619Lys)
c.4854T>A (p.Asn1618Lys)
c.1074T>A (p.Asn358Lys)
c.4869T>A (p.Asn1623Lys)
c.4851T>A (p.Asn1617Lys)
c.1206T>A (p.Asn402Lys)
c.4872T>A (p.Asn1624Lys)
c.4980T>A (p.Asn1660Lys)
n.11338T>A
n.11329T>A
10g.53806757T>ACA376516239PCDH15c.3904A>T
c.5045A>T (p.Asn1682Ile)
c.4856A>T (p.Asn1619Ile)
c.4853A>T (p.Asn1618Ile)
c.1073A>T (p.Asn358Ile)
c.4868A>T (p.Asn1623Ile)
c.4850A>T (p.Asn1617Ile)
c.1205A>T (p.Asn402Ile)
c.4871A>T (p.Asn1624Ile)
c.4979A>T (p.Asn1660Ile)
n.11337A>T
n.11328A>T
10g.53806757T>CCA5504534PCDH15c.3904A>G
c.5045A>G (p.Asn1682Ser)
c.4856A>G (p.Asn1619Ser)
c.4853A>G (p.Asn1618Ser)
c.1073A>G (p.Asn358Ser)
c.4868A>G (p.Asn1623Ser)
c.4850A>G (p.Asn1617Ser)
c.1205A>G (p.Asn402Ser)
c.4871A>G (p.Asn1624Ser)
c.4979A>G (p.Asn1660Ser)
n.11337A>G
n.11328A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806757T>GCA376516236PCDH15c.3904A>C
c.5045A>C (p.Asn1682Thr)
c.4856A>C (p.Asn1619Thr)
c.4853A>C (p.Asn1618Thr)
c.1073A>C (p.Asn358Thr)
c.4868A>C (p.Asn1623Thr)
c.4850A>C (p.Asn1617Thr)
c.1205A>C (p.Asn402Thr)
c.4871A>C (p.Asn1624Thr)
c.4979A>C (p.Asn1660Thr)
n.11337A>C
n.11328A>C
10g.53806757T=CA1910756191PCDH15c.3904A=
c.5045A= (p.Asn1682=)
c.4856A= (p.Asn1619=)
c.4853A= (p.Asn1618=)
c.1073A= (p.Asn358=)
c.4868A= (p.Asn1623=)
c.4850A= (p.Asn1617=)
c.1205A= (p.Asn402=)
c.4871A= (p.Asn1624=)
c.4979A= (p.Asn1660=)
n.11337A=
n.11328A=
10g.53806758_53806760dupCA658822070PCDH15c.3902_3904dup
c.5043_5045dup (p.Asn1682_Thr1683insAsn)
c.4854_4856dup (p.Asn1619_Thr1620insAsn)
c.4851_4853dup (p.Asn1618_Thr1619insAsn)
c.1071_1073dup (p.Asn358_Thr359insAsn)
c.4866_4868dup (p.Asn1623_Thr1624insAsn)
c.4848_4850dup (p.Asn1617_Thr1618insAsn)
c.1203_1205dup (p.Asn402_Thr403insAsn)
c.4869_4871dup (p.Asn1624_Thr1625insAsn)
c.4977_4979dup (p.Asn1660_Thr1661insAsn)
n.11335_11337dup
n.11326_11328dup
 ClinVar dbSNP
10g.53806758T>ACA376516240PCDH15c.3903A>T
c.5044A>T (p.Asn1682Tyr)
c.4855A>T (p.Asn1619Tyr)
c.4852A>T (p.Asn1618Tyr)
c.1072A>T (p.Asn358Tyr)
c.4867A>T (p.Asn1623Tyr)
c.4849A>T (p.Asn1617Tyr)
c.1204A>T (p.Asn402Tyr)
c.4870A>T (p.Asn1624Tyr)
c.4978A>T (p.Asn1660Tyr)
n.11336A>T
n.11327A>T
10g.53806758T>CCA5504535PCDH15c.3903A>G
c.5044A>G (p.Asn1682Asp)
c.4855A>G (p.Asn1619Asp)
c.4852A>G (p.Asn1618Asp)
c.1072A>G (p.Asn358Asp)
c.4867A>G (p.Asn1623Asp)
c.4849A>G (p.Asn1617Asp)
c.1204A>G (p.Asn402Asp)
c.4870A>G (p.Asn1624Asp)
c.4978A>G (p.Asn1660Asp)
n.11336A>G
n.11327A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806758T>GCA376516241PCDH15c.3903A>C
c.5044A>C (p.Asn1682His)
c.4855A>C (p.Asn1619His)
c.4852A>C (p.Asn1618His)
c.1072A>C (p.Asn358His)
c.4867A>C (p.Asn1623His)
c.4849A>C (p.Asn1617His)
c.1204A>C (p.Asn402His)
c.4870A>C (p.Asn1624His)
c.4978A>C (p.Asn1660His)
n.11336A>C
n.11327A>C
10g.53806758T=CA1910756195PCDH15c.3903A=
c.5044A= (p.Asn1682=)
c.4855A= (p.Asn1619=)
c.4852A= (p.Asn1618=)
c.1072A= (p.Asn358=)
c.4867A= (p.Asn1623=)
c.4849A= (p.Asn1617=)
c.1204A= (p.Asn402=)
c.4870A= (p.Asn1624=)
c.4978A= (p.Asn1660=)
n.11336A=
n.11327A=
10g.53806758_53806761dupCA5504533PCDH15c.3900_3903dup
c.5041_5044dup (p.Asn1682ArgfsTer17)
c.4852_4855dup (p.Asn1619ArgfsTer17)
c.4849_4852dup (p.Asn1618ArgfsTer17)
c.1069_1072dup (p.Asn358ArgfsTer17)
c.4864_4867dup (p.Asn1623ArgfsTer17)
c.4846_4849dup (p.Asn1617ArgfsTer17)
c.1201_1204dup (p.Asn402ArgfsTer17)
c.4867_4870dup (p.Asn1624ArgfsTer17)
c.4975_4978dup (p.Asn1660ArgfsTer17)
n.11333_11336dup
n.11324_11327dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806759G>ACA469545887PCDH15c.3902C>T
c.5043C>T (p.Asp1681=)
c.4854C>T (p.Asp1618=)
c.4851C>T (p.Asp1617=)
c.1071C>T (p.Asp357=)
c.4866C>T (p.Asp1622=)
c.4848C>T (p.Asp1616=)
c.1203C>T (p.Asp401=)
c.4869C>T (p.Asp1623=)
c.4977C>T (p.Asp1659=)
n.11335C>T
n.11326C>T
 gnomAD v4
10g.53806759G>CCA376516243PCDH15c.3902C>G
c.5043C>G (p.Asp1681Glu)
c.4854C>G (p.Asp1618Glu)
c.4851C>G (p.Asp1617Glu)
c.1071C>G (p.Asp357Glu)
c.4866C>G (p.Asp1622Glu)
c.4848C>G (p.Asp1616Glu)
c.1203C>G (p.Asp401Glu)
c.4869C>G (p.Asp1623Glu)
c.4977C>G (p.Asp1659Glu)
n.11335C>G
n.11326C>G
10g.53806759G>TCA376516245PCDH15c.3902C>A
c.5043C>A (p.Asp1681Glu)
c.4854C>A (p.Asp1618Glu)
c.4851C>A (p.Asp1617Glu)
c.1071C>A (p.Asp357Glu)
c.4866C>A (p.Asp1622Glu)
c.4848C>A (p.Asp1616Glu)
c.1203C>A (p.Asp401Glu)
c.4869C>A (p.Asp1623Glu)
c.4977C>A (p.Asp1659Glu)
n.11335C>A
n.11326C>A
10g.53806762_53806765dupCA469545886PCDH15c.3899_3902dup
c.5040_5043dup (p.Asn1682Ter)
c.4851_4854dup (p.Asn1619Ter)
c.4848_4851dup (p.Asn1618Ter)
c.1068_1071dup (p.Asn358Ter)
c.4863_4866dup (p.Asn1623Ter)
c.4845_4848dup (p.Asn1617Ter)
c.1200_1203dup (p.Asn402Ter)
c.4866_4869dup (p.Asn1624Ter)
c.4974_4977dup (p.Asn1660Ter)
n.11332_11335dup
n.11323_11326dup
10g.53806760T>ACA5504536PCDH15c.3901A>T
c.5042A>T (p.Asp1681Val)
c.4853A>T (p.Asp1618Val)
c.4850A>T (p.Asp1617Val)
c.1070A>T (p.Asp357Val)
c.4865A>T (p.Asp1622Val)
c.4847A>T (p.Asp1616Val)
c.1202A>T (p.Asp401Val)
c.4868A>T (p.Asp1623Val)
c.4976A>T (p.Asp1659Val)
n.11334A>T
n.11325A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806760T>CCA376516249PCDH15c.3901A>G
c.5042A>G (p.Asp1681Gly)
c.4853A>G (p.Asp1618Gly)
c.4850A>G (p.Asp1617Gly)
c.1070A>G (p.Asp357Gly)
c.4865A>G (p.Asp1622Gly)
c.4847A>G (p.Asp1616Gly)
c.1202A>G (p.Asp401Gly)
c.4868A>G (p.Asp1623Gly)
c.4976A>G (p.Asp1659Gly)
n.11334A>G
n.11325A>G
10g.53806760T>GCA376516248PCDH15c.3901A>C
c.5042A>C (p.Asp1681Ala)
c.4853A>C (p.Asp1618Ala)
c.4850A>C (p.Asp1617Ala)
c.1070A>C (p.Asp357Ala)
c.4865A>C (p.Asp1622Ala)
c.4847A>C (p.Asp1616Ala)
c.1202A>C (p.Asp401Ala)
c.4868A>C (p.Asp1623Ala)
c.4976A>C (p.Asp1659Ala)
n.11334A>C
n.11325A>C
10g.53806760T=CA1910756200PCDH15c.3901A=
c.5042A= (p.Asp1681=)
c.4853A= (p.Asp1618=)
c.4850A= (p.Asp1617=)
c.1070A= (p.Asp357=)
c.4865A= (p.Asp1622=)
c.4847A= (p.Asp1616=)
c.1202A= (p.Asp401=)
c.4868A= (p.Asp1623=)
c.4976A= (p.Asp1659=)
n.11334A=
n.11325A=
10g.53806761C>ACA376516250PCDH15c.3900G>T
c.5041G>T (p.Asp1681Tyr)
c.4852G>T (p.Asp1618Tyr)
c.4849G>T (p.Asp1617Tyr)
c.1069G>T (p.Asp357Tyr)
c.4864G>T (p.Asp1622Tyr)
c.4846G>T (p.Asp1616Tyr)
c.1201G>T (p.Asp401Tyr)
c.4867G>T (p.Asp1623Tyr)
c.4975G>T (p.Asp1659Tyr)
n.11333G>T
n.11324G>T
10g.53806761C>GCA376516251PCDH15c.3900G>C
c.5041G>C (p.Asp1681His)
c.4852G>C (p.Asp1618His)
c.4849G>C (p.Asp1617His)
c.1069G>C (p.Asp357His)
c.4864G>C (p.Asp1622His)
c.4846G>C (p.Asp1616His)
c.1201G>C (p.Asp401His)
c.4867G>C (p.Asp1623His)
c.4975G>C (p.Asp1659His)
n.11333G>C
n.11324G>C
10g.53806761C>TCA376516253PCDH15c.3900G>A
c.5041G>A (p.Asp1681Asn)
c.4852G>A (p.Asp1618Asn)
c.4849G>A (p.Asp1617Asn)
c.1069G>A (p.Asp357Asn)
c.4864G>A (p.Asp1622Asn)
c.4846G>A (p.Asp1616Asn)
c.1201G>A (p.Asp401Asn)
c.4867G>A (p.Asp1623Asn)
c.4975G>A (p.Asp1659Asn)
n.11333G>A
n.11324G>A
10g.53806762A>CCA469545888PCDH15c.3899T>G
c.5040T>G (p.Thr1680=)
c.4851T>G (p.Thr1617=)
c.4848T>G (p.Thr1616=)
c.1068T>G (p.Thr356=)
c.4863T>G (p.Thr1621=)
c.4845T>G (p.Thr1615=)
c.1200T>G (p.Thr400=)
c.4866T>G (p.Thr1622=)
c.4974T>G (p.Thr1658=)
n.11332T>G
n.11323T>G
 gnomAD v4
10g.53806762A>GCA469545889PCDH15c.3899T>C
c.5040T>C (p.Thr1680=)
c.4851T>C (p.Thr1617=)
c.4848T>C (p.Thr1616=)
c.1068T>C (p.Thr356=)
c.4863T>C (p.Thr1621=)
c.4845T>C (p.Thr1615=)
c.1200T>C (p.Thr400=)
c.4866T>C (p.Thr1622=)
c.4974T>C (p.Thr1658=)
n.11332T>C
n.11323T>C
10g.53806762A>TCA469545890PCDH15c.3899T>A
c.5040T>A (p.Thr1680=)
c.4851T>A (p.Thr1617=)
c.4848T>A (p.Thr1616=)
c.1068T>A (p.Thr356=)
c.4863T>A (p.Thr1621=)
c.4845T>A (p.Thr1615=)
c.1200T>A (p.Thr400=)
c.4866T>A (p.Thr1622=)
c.4974T>A (p.Thr1658=)
n.11332T>A
n.11323T>A
 COSMIC
10g.53806763G>ACA376516255PCDH15c.3898C>T
c.5039C>T (p.Thr1680Ile)
c.4850C>T (p.Thr1617Ile)
c.4847C>T (p.Thr1616Ile)
c.1067C>T (p.Thr356Ile)
c.4862C>T (p.Thr1621Ile)
c.4844C>T (p.Thr1615Ile)
c.1199C>T (p.Thr400Ile)
c.4865C>T (p.Thr1622Ile)
c.4973C>T (p.Thr1658Ile)
n.11331C>T
n.11322C>T
10g.53806763G>CCA376516258PCDH15c.3898C>G
c.5039C>G (p.Thr1680Ser)
c.4850C>G (p.Thr1617Ser)
c.4847C>G (p.Thr1616Ser)
c.1067C>G (p.Thr356Ser)
c.4862C>G (p.Thr1621Ser)
c.4844C>G (p.Thr1615Ser)
c.1199C>G (p.Thr400Ser)
c.4865C>G (p.Thr1622Ser)
c.4973C>G (p.Thr1658Ser)
n.11331C>G
n.11322C>G
 gnomAD v4
10g.53806763G>TCA376516259PCDH15c.3898C>A
c.5039C>A (p.Thr1680Asn)
c.4850C>A (p.Thr1617Asn)
c.4847C>A (p.Thr1616Asn)
c.1067C>A (p.Thr356Asn)
c.4862C>A (p.Thr1621Asn)
c.4844C>A (p.Thr1615Asn)
c.1199C>A (p.Thr400Asn)
c.4865C>A (p.Thr1622Asn)
c.4973C>A (p.Thr1658Asn)
n.11331C>A
n.11322C>A
10g.53806764T>ACA376516260PCDH15c.3897A>T
c.5038A>T (p.Thr1680Ser)
c.4849A>T (p.Thr1617Ser)
c.4846A>T (p.Thr1616Ser)
c.1066A>T (p.Thr356Ser)
c.4861A>T (p.Thr1621Ser)
c.4843A>T (p.Thr1615Ser)
c.1198A>T (p.Thr400Ser)
c.4864A>T (p.Thr1622Ser)
c.4972A>T (p.Thr1658Ser)
n.11330A>T
n.11321A>T
10g.53806764T>CCA376516263PCDH15c.3897A>G
c.5038A>G (p.Thr1680Ala)
c.4849A>G (p.Thr1617Ala)
c.4846A>G (p.Thr1616Ala)
c.1066A>G (p.Thr356Ala)
c.4861A>G (p.Thr1621Ala)
c.4843A>G (p.Thr1615Ala)
c.1198A>G (p.Thr400Ala)
c.4864A>G (p.Thr1622Ala)
c.4972A>G (p.Thr1658Ala)
n.11330A>G
n.11321A>G
10g.53806764T>GCA376516265PCDH15c.3897A>C
c.5038A>C (p.Thr1680Pro)
c.4849A>C (p.Thr1617Pro)
c.4846A>C (p.Thr1616Pro)
c.1066A>C (p.Thr356Pro)
c.4861A>C (p.Thr1621Pro)
c.4843A>C (p.Thr1615Pro)
c.1198A>C (p.Thr400Pro)
c.4864A>C (p.Thr1622Pro)
c.4972A>C (p.Thr1658Pro)
n.11330A>C
n.11321A>C
10g.53806765C>ACA469545891PCDH15c.3896G>T
c.5037G>T (p.Gly1679=)
c.4848G>T (p.Gly1616=)
c.4845G>T (p.Gly1615=)
c.1065G>T (p.Gly355=)
c.4860G>T (p.Gly1620=)
c.4842G>T (p.Gly1614=)
c.1197G>T (p.Gly399=)
c.4863G>T (p.Gly1621=)
c.4971G>T (p.Gly1657=)
n.11329G>T
n.11320G>T
 gnomAD v4
10g.53806765C>GCA469545892PCDH15c.3896G>C
c.5037G>C (p.Gly1679=)
c.4848G>C (p.Gly1616=)
c.4845G>C (p.Gly1615=)
c.1065G>C (p.Gly355=)
c.4860G>C (p.Gly1620=)
c.4842G>C (p.Gly1614=)
c.1197G>C (p.Gly399=)
c.4863G>C (p.Gly1621=)
c.4971G>C (p.Gly1657=)
n.11329G>C
n.11320G>C
10g.53806765C>TCA469545893PCDH15c.3896G>A
c.5037G>A (p.Gly1679=)
c.4848G>A (p.Gly1616=)
c.4845G>A (p.Gly1615=)
c.1065G>A (p.Gly355=)
c.4860G>A (p.Gly1620=)
c.4842G>A (p.Gly1614=)
c.1197G>A (p.Gly399=)
c.4863G>A (p.Gly1621=)
c.4971G>A (p.Gly1657=)
n.11329G>A
n.11320G>A
10g.53806766C>ACA376516266PCDH15c.3895G>T
c.5036G>T (p.Gly1679Val)
c.4847G>T (p.Gly1616Val)
c.4844G>T (p.Gly1615Val)
c.1064G>T (p.Gly355Val)
c.4859G>T (p.Gly1620Val)
c.4841G>T (p.Gly1614Val)
c.1196G>T (p.Gly399Val)
c.4862G>T (p.Gly1621Val)
c.4970G>T (p.Gly1657Val)
n.11328G>T
n.11319G>T
10g.53806766C=CA1910756202PCDH15c.3895G=
c.5036G= (p.Gly1679=)
c.4847G= (p.Gly1616=)
c.4844G= (p.Gly1615=)
c.1064G= (p.Gly355=)
c.4859G= (p.Gly1620=)
c.4841G= (p.Gly1614=)
c.1196G= (p.Gly399=)
c.4862G= (p.Gly1621=)
c.4970G= (p.Gly1657=)
n.11328G=
n.11319G=
10g.53806766C>GCA376516267PCDH15c.3895G>C
c.5036G>C (p.Gly1679Ala)
c.4847G>C (p.Gly1616Ala)
c.4844G>C (p.Gly1615Ala)
c.1064G>C (p.Gly355Ala)
c.4859G>C (p.Gly1620Ala)
c.4841G>C (p.Gly1614Ala)
c.1196G>C (p.Gly399Ala)
c.4862G>C (p.Gly1621Ala)
c.4970G>C (p.Gly1657Ala)
n.11328G>C
n.11319G>C
10g.53806766C>TCA5504537PCDH15c.3895G>A
c.5036G>A (p.Gly1679Glu)
c.4847G>A (p.Gly1616Glu)
c.4844G>A (p.Gly1615Glu)
c.1064G>A (p.Gly355Glu)
c.4859G>A (p.Gly1620Glu)
c.4841G>A (p.Gly1614Glu)
c.1196G>A (p.Gly399Glu)
c.4862G>A (p.Gly1621Glu)
c.4970G>A (p.Gly1657Glu)
n.11328G>A
n.11319G>A
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.53806767C>ACA5504538PCDH15c.3894G>T
c.5035G>T (p.Gly1679Trp)
c.4846G>T (p.Gly1616Trp)
c.4843G>T (p.Gly1615Trp)
c.1063G>T (p.Gly355Trp)
c.4858G>T (p.Gly1620Trp)
c.4840G>T (p.Gly1614Trp)
c.1195G>T (p.Gly399Trp)
c.4861G>T (p.Gly1621Trp)
c.4969G>T (p.Gly1657Trp)
n.11327G>T
n.11318G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806767C=CA1910756204PCDH15c.3894G=
c.5035G= (p.Gly1679=)
c.4846G= (p.Gly1616=)
c.4843G= (p.Gly1615=)
c.1063G= (p.Gly355=)
c.4858G= (p.Gly1620=)
c.4840G= (p.Gly1614=)
c.1195G= (p.Gly399=)
c.4861G= (p.Gly1621=)
c.4969G= (p.Gly1657=)
n.11327G=
n.11318G=
10g.53806767C>GCA376516280PCDH15c.3894G>C
c.5035G>C (p.Gly1679Arg)
c.4846G>C (p.Gly1616Arg)
c.4843G>C (p.Gly1615Arg)
c.1063G>C (p.Gly355Arg)
c.4858G>C (p.Gly1620Arg)
c.4840G>C (p.Gly1614Arg)
c.1195G>C (p.Gly399Arg)
c.4861G>C (p.Gly1621Arg)
c.4969G>C (p.Gly1657Arg)
n.11327G>C
n.11318G>C
10g.53806767C>TCA376516273PCDH15c.3894G>A
c.5035G>A (p.Gly1679Arg)
c.4846G>A (p.Gly1616Arg)
c.4843G>A (p.Gly1615Arg)
c.1063G>A (p.Gly355Arg)
c.4858G>A (p.Gly1620Arg)
c.4840G>A (p.Gly1614Arg)
c.1195G>A (p.Gly399Arg)
c.4861G>A (p.Gly1621Arg)
c.4969G>A (p.Gly1657Arg)
n.11327G>A
n.11318G>A
 dbSNP gnomAD v2 gnomAD v4
10g.53806768C>ACA469545894PCDH15c.3893G>T
c.5034G>T (p.Val1678=)
c.4845G>T (p.Val1615=)
c.4842G>T (p.Val1614=)
c.1062G>T (p.Val354=)
c.4857G>T (p.Val1619=)
c.4839G>T (p.Val1613=)
c.1194G>T (p.Val398=)
c.4860G>T (p.Val1620=)
c.4968G>T (p.Val1656=)
n.11326G>T
n.11317G>T
10g.53806768C>GCA469545895PCDH15c.3893G>C
c.5034G>C (p.Val1678=)
c.4845G>C (p.Val1615=)
c.4842G>C (p.Val1614=)
c.1062G>C (p.Val354=)
c.4857G>C (p.Val1619=)
c.4839G>C (p.Val1613=)
c.1194G>C (p.Val398=)
c.4860G>C (p.Val1620=)
c.4968G>C (p.Val1656=)
n.11326G>C
n.11317G>C
10g.53806768C>TCA469545896PCDH15c.3893G>A
c.5034G>A (p.Val1678=)
c.4845G>A (p.Val1615=)
c.4842G>A (p.Val1614=)
c.1062G>A (p.Val354=)
c.4857G>A (p.Val1619=)
c.4839G>A (p.Val1613=)
c.1194G>A (p.Val398=)
c.4860G>A (p.Val1620=)
c.4968G>A (p.Val1656=)
n.11326G>A
n.11317G>A
10g.53806769A>CCA376516282PCDH15c.3892T>G
c.5033T>G (p.Val1678Gly)
c.4844T>G (p.Val1615Gly)
c.4841T>G (p.Val1614Gly)
c.1061T>G (p.Val354Gly)
c.4856T>G (p.Val1619Gly)
c.4838T>G (p.Val1613Gly)
c.1193T>G (p.Val398Gly)
c.4859T>G (p.Val1620Gly)
c.4967T>G (p.Val1656Gly)
n.11325T>G
n.11316T>G
10g.53806769A>GCA376516283PCDH15c.3892T>C
c.5033T>C (p.Val1678Ala)
c.4844T>C (p.Val1615Ala)
c.4841T>C (p.Val1614Ala)
c.1061T>C (p.Val354Ala)
c.4856T>C (p.Val1619Ala)
c.4838T>C (p.Val1613Ala)
c.1193T>C (p.Val398Ala)
c.4859T>C (p.Val1620Ala)
c.4967T>C (p.Val1656Ala)
n.11325T>C
n.11316T>C
 dbSNP
10g.53806769A>TCA376516286PCDH15c.3892T>A
c.5033T>A (p.Val1678Glu)
c.4844T>A (p.Val1615Glu)
c.4841T>A (p.Val1614Glu)
c.1061T>A (p.Val354Glu)
c.4856T>A (p.Val1619Glu)
c.4838T>A (p.Val1613Glu)
c.1193T>A (p.Val398Glu)
c.4859T>A (p.Val1620Glu)
c.4967T>A (p.Val1656Glu)
n.11325T>A
n.11316T>A
10g.53806770C>ACA376516287PCDH15c.3891G>T
c.5032G>T (p.Val1678Leu)
c.4843G>T (p.Val1615Leu)
c.4840G>T (p.Val1614Leu)
c.1060G>T (p.Val354Leu)
c.4855G>T (p.Val1619Leu)
c.4837G>T (p.Val1613Leu)
c.1192G>T (p.Val398Leu)
c.4858G>T (p.Val1620Leu)
c.4966G>T (p.Val1656Leu)
n.11324G>T
n.11315G>T
 gnomAD v4
10g.53806770C=CA1910756207PCDH15c.3891G=
c.5032G= (p.Val1678=)
c.4843G= (p.Val1615=)
c.4840G= (p.Val1614=)
c.1060G= (p.Val354=)
c.4855G= (p.Val1619=)
c.4837G= (p.Val1613=)
c.1192G= (p.Val398=)
c.4858G= (p.Val1620=)
c.4966G= (p.Val1656=)
n.11324G=
n.11315G=
10g.53806770C>GCA376516288PCDH15c.3891G>C
c.5032G>C (p.Val1678Leu)
c.4843G>C (p.Val1615Leu)
c.4840G>C (p.Val1614Leu)
c.1060G>C (p.Val354Leu)
c.4855G>C (p.Val1619Leu)
c.4837G>C (p.Val1613Leu)
c.1192G>C (p.Val398Leu)
c.4858G>C (p.Val1620Leu)
c.4966G>C (p.Val1656Leu)
n.11324G>C
n.11315G>C
10g.53806770C>TCA376516289PCDH15c.3891G>A
c.5032G>A (p.Val1678Met)
c.4843G>A (p.Val1615Met)
c.4840G>A (p.Val1614Met)
c.1060G>A (p.Val354Met)
c.4855G>A (p.Val1619Met)
c.4837G>A (p.Val1613Met)
c.1192G>A (p.Val398Met)
c.4858G>A (p.Val1620Met)
c.4966G>A (p.Val1656Met)
n.11324G>A
n.11315G>A
 dbSNP gnomAD v2 gnomAD v4
10g.53806771A>CCA469545899PCDH15c.3890T>G
c.5031T>G (p.Pro1677=)
c.4842T>G (p.Pro1614=)
c.4839T>G (p.Pro1613=)
c.1059T>G (p.Pro353=)
c.4854T>G (p.Pro1618=)
c.4836T>G (p.Pro1612=)
c.1191T>G (p.Pro397=)
c.4857T>G (p.Pro1619=)
c.4965T>G (p.Pro1655=)
n.11323T>G
n.11314T>G
10g.53806771A>GCA469545897PCDH15c.3890T>C
c.5031T>C (p.Pro1677=)
c.4842T>C (p.Pro1614=)
c.4839T>C (p.Pro1613=)
c.1059T>C (p.Pro353=)
c.4854T>C (p.Pro1618=)
c.4836T>C (p.Pro1612=)
c.1191T>C (p.Pro397=)
c.4857T>C (p.Pro1619=)
c.4965T>C (p.Pro1655=)
n.11323T>C
n.11314T>C
10g.53806771A>TCA469545898PCDH15c.3890T>A
c.5031T>A (p.Pro1677=)
c.4842T>A (p.Pro1614=)
c.4839T>A (p.Pro1613=)
c.1059T>A (p.Pro353=)
c.4854T>A (p.Pro1618=)
c.4836T>A (p.Pro1612=)
c.1191T>A (p.Pro397=)
c.4857T>A (p.Pro1619=)
c.4965T>A (p.Pro1655=)
n.11323T>A
n.11314T>A
10g.53806772G>ACA376516298PCDH15c.3889C>T
c.5030C>T (p.Pro1677Leu)
c.4841C>T (p.Pro1614Leu)
c.4838C>T (p.Pro1613Leu)
c.1058C>T (p.Pro353Leu)
c.4853C>T (p.Pro1618Leu)
c.4835C>T (p.Pro1612Leu)
c.1190C>T (p.Pro397Leu)
c.4856C>T (p.Pro1619Leu)
c.4964C>T (p.Pro1655Leu)
n.11322C>T
n.11313C>T
10g.53806772G>CCA376516290PCDH15c.3889C>G
c.5030C>G (p.Pro1677Arg)
c.4841C>G (p.Pro1614Arg)
c.4838C>G (p.Pro1613Arg)
c.1058C>G (p.Pro353Arg)
c.4853C>G (p.Pro1618Arg)
c.4835C>G (p.Pro1612Arg)
c.1190C>G (p.Pro397Arg)
c.4856C>G (p.Pro1619Arg)
c.4964C>G (p.Pro1655Arg)
n.11322C>G
n.11313C>G
10g.53806772G>TCA376516297PCDH15c.3889C>A
c.5030C>A (p.Pro1677His)
c.4841C>A (p.Pro1614His)
c.4838C>A (p.Pro1613His)
c.1058C>A (p.Pro353His)
c.4853C>A (p.Pro1618His)
c.4835C>A (p.Pro1612His)
c.1190C>A (p.Pro397His)
c.4856C>A (p.Pro1619His)
c.4964C>A (p.Pro1655His)
n.11322C>A
n.11313C>A
10g.53806773G>ACA376516302PCDH15c.3888C>T
c.5029C>T (p.Pro1677Ser)
c.4840C>T (p.Pro1614Ser)
c.4837C>T (p.Pro1613Ser)
c.1057C>T (p.Pro353Ser)
c.4852C>T (p.Pro1618Ser)
c.4834C>T (p.Pro1612Ser)
c.1189C>T (p.Pro397Ser)
c.4855C>T (p.Pro1619Ser)
c.4963C>T (p.Pro1655Ser)
n.11321C>T
n.11312C>T
 gnomAD v4
10g.53806773G>CCA376516303PCDH15c.3888C>G
c.5029C>G (p.Pro1677Ala)
c.4840C>G (p.Pro1614Ala)
c.4837C>G (p.Pro1613Ala)
c.1057C>G (p.Pro353Ala)
c.4852C>G (p.Pro1618Ala)
c.4834C>G (p.Pro1612Ala)
c.1189C>G (p.Pro397Ala)
c.4855C>G (p.Pro1619Ala)
c.4963C>G (p.Pro1655Ala)
n.11321C>G
n.11312C>G
10g.53806773G>TCA376516304PCDH15c.3888C>A
c.5029C>A (p.Pro1677Thr)
c.4840C>A (p.Pro1614Thr)
c.4837C>A (p.Pro1613Thr)
c.1057C>A (p.Pro353Thr)
c.4852C>A (p.Pro1618Thr)
c.4834C>A (p.Pro1612Thr)
c.1189C>A (p.Pro397Thr)
c.4855C>A (p.Pro1619Thr)
c.4963C>A (p.Pro1655Thr)
n.11321C>A
n.11312C>A
10g.53806774G>ACA469545900PCDH15c.3887C>T
c.5028C>T (p.Cys1676=)
c.4839C>T (p.Cys1613=)
c.4836C>T (p.Cys1612=)
c.1056C>T (p.Cys352=)
c.4851C>T (p.Cys1617=)
c.4833C>T (p.Cys1611=)
c.1188C>T (p.Cys396=)
c.4854C>T (p.Cys1618=)
c.4962C>T (p.Cys1654=)
n.11320C>T
n.11311C>T
 dbSNP
10g.53806774G>CCA376516305PCDH15c.3887C>G
c.5028C>G (p.Cys1676Trp)
c.4839C>G (p.Cys1613Trp)
c.4836C>G (p.Cys1612Trp)
c.1056C>G (p.Cys352Trp)
c.4851C>G (p.Cys1617Trp)
c.4833C>G (p.Cys1611Trp)
c.1188C>G (p.Cys396Trp)
c.4854C>G (p.Cys1618Trp)
c.4962C>G (p.Cys1654Trp)
n.11320C>G
n.11311C>G
10g.53806774G>TCA376516317PCDH15c.3887C>A
c.5028C>A (p.Cys1676Ter)
c.4839C>A (p.Cys1613Ter)
c.4836C>A (p.Cys1612Ter)
c.1056C>A (p.Cys352Ter)
c.4851C>A (p.Cys1617Ter)
c.4833C>A (p.Cys1611Ter)
c.1188C>A (p.Cys396Ter)
c.4854C>A (p.Cys1618Ter)
c.4962C>A (p.Cys1654Ter)
n.11320C>A
n.11311C>A
10g.53806775C>ACA376516330PCDH15c.3886G>T
c.5027G>T (p.Cys1676Phe)
c.4838G>T (p.Cys1613Phe)
c.4835G>T (p.Cys1612Phe)
c.1055G>T (p.Cys352Phe)
c.4850G>T (p.Cys1617Phe)
c.4832G>T (p.Cys1611Phe)
c.1187G>T (p.Cys396Phe)
c.4853G>T (p.Cys1618Phe)
c.4961G>T (p.Cys1654Phe)
n.11319G>T
n.11310G>T
10g.53806775C=CA1910756209PCDH15c.3886G=
c.5027G= (p.Cys1676=)
c.4838G= (p.Cys1613=)
c.4835G= (p.Cys1612=)
c.1055G= (p.Cys352=)
c.4850G= (p.Cys1617=)
c.4832G= (p.Cys1611=)
c.1187G= (p.Cys396=)
c.4853G= (p.Cys1618=)
c.4961G= (p.Cys1654=)
n.11319G=
n.11310G=
10g.53806775C>GCA376516326PCDH15c.3886G>C
c.5027G>C (p.Cys1676Ser)
c.4838G>C (p.Cys1613Ser)
c.4835G>C (p.Cys1612Ser)
c.1055G>C (p.Cys352Ser)
c.4850G>C (p.Cys1617Ser)
c.4832G>C (p.Cys1611Ser)
c.1187G>C (p.Cys396Ser)
c.4853G>C (p.Cys1618Ser)
c.4961G>C (p.Cys1654Ser)
n.11319G>C
n.11310G>C
 dbSNP
10g.53806775C>TCA376516329PCDH15c.3886G>A
c.5027G>A (p.Cys1676Tyr)
c.4838G>A (p.Cys1613Tyr)
c.4835G>A (p.Cys1612Tyr)
c.1055G>A (p.Cys352Tyr)
c.4850G>A (p.Cys1617Tyr)
c.4832G>A (p.Cys1611Tyr)
c.1187G>A (p.Cys396Tyr)
c.4853G>A (p.Cys1618Tyr)
c.4961G>A (p.Cys1654Tyr)
n.11319G>A
n.11310G>A
 dbSNP gnomAD v4
10g.53806776A>CCA376516331PCDH15c.3885T>G
c.5026T>G (p.Cys1676Gly)
c.4837T>G (p.Cys1613Gly)
c.4834T>G (p.Cys1612Gly)
c.1054T>G (p.Cys352Gly)
c.4849T>G (p.Cys1617Gly)
c.4831T>G (p.Cys1611Gly)
c.1186T>G (p.Cys396Gly)
c.4852T>G (p.Cys1618Gly)
c.4960T>G (p.Cys1654Gly)
n.11318T>G
n.11309T>G
10g.53806776A>GCA376516332PCDH15c.3885T>C
c.5026T>C (p.Cys1676Arg)
c.4837T>C (p.Cys1613Arg)
c.4834T>C (p.Cys1612Arg)
c.1054T>C (p.Cys352Arg)
c.4849T>C (p.Cys1617Arg)
c.4831T>C (p.Cys1611Arg)
c.1186T>C (p.Cys396Arg)
c.4852T>C (p.Cys1618Arg)
c.4960T>C (p.Cys1654Arg)
n.11318T>C
n.11309T>C
10g.53806776A>TCA376516333PCDH15c.3885T>A
c.5026T>A (p.Cys1676Ser)
c.4837T>A (p.Cys1613Ser)
c.4834T>A (p.Cys1612Ser)
c.1054T>A (p.Cys352Ser)
c.4849T>A (p.Cys1617Ser)
c.4831T>A (p.Cys1611Ser)
c.1186T>A (p.Cys396Ser)
c.4852T>A (p.Cys1618Ser)
c.4960T>A (p.Cys1654Ser)
n.11318T>A
n.11309T>A
10g.53806777A=CA1910756213PCDH15c.3884T=
c.5025T= (p.Pro1675=)
c.4836T= (p.Pro1612=)
c.4833T= (p.Pro1611=)
c.1053T= (p.Pro351=)
c.4848T= (p.Pro1616=)
c.4830T= (p.Pro1610=)
c.1185T= (p.Pro395=)
c.4851T= (p.Pro1617=)
c.4959T= (p.Pro1653=)
n.11317T=
n.11308T=
10g.53806777A>CCA469545901PCDH15c.3884T>G
c.5025T>G (p.Pro1675=)
c.4836T>G (p.Pro1612=)
c.4833T>G (p.Pro1611=)
c.1053T>G (p.Pro351=)
c.4848T>G (p.Pro1616=)
c.4830T>G (p.Pro1610=)
c.1185T>G (p.Pro395=)
c.4851T>G (p.Pro1617=)
c.4959T>G (p.Pro1653=)
n.11317T>G
n.11308T>G
 dbSNP
10g.53806777A>GCA469545903PCDH15c.3884T>C
c.5025T>C (p.Pro1675=)
c.4836T>C (p.Pro1612=)
c.4833T>C (p.Pro1611=)
c.1053T>C (p.Pro351=)
c.4848T>C (p.Pro1616=)
c.4830T>C (p.Pro1610=)
c.1185T>C (p.Pro395=)
c.4851T>C (p.Pro1617=)
c.4959T>C (p.Pro1653=)
n.11317T>C
n.11308T>C
 gnomAD v4 COSMIC
10g.53806777A>TCA469545902PCDH15c.3884T>A
c.5025T>A (p.Pro1675=)
c.4836T>A (p.Pro1612=)
c.4833T>A (p.Pro1611=)
c.1053T>A (p.Pro351=)
c.4848T>A (p.Pro1616=)
c.4830T>A (p.Pro1610=)
c.1185T>A (p.Pro395=)
c.4851T>A (p.Pro1617=)
c.4959T>A (p.Pro1653=)
n.11317T>A
n.11308T>A
10g.53806778G>ACA376516336PCDH15c.3883C>T
c.5024C>T (p.Pro1675Leu)
c.4835C>T (p.Pro1612Leu)
c.4832C>T (p.Pro1611Leu)
c.1052C>T (p.Pro351Leu)
c.4847C>T (p.Pro1616Leu)
c.4829C>T (p.Pro1610Leu)
c.1184C>T (p.Pro395Leu)
c.4850C>T (p.Pro1617Leu)
c.4958C>T (p.Pro1653Leu)
n.11316C>T
n.11307C>T
 dbSNP gnomAD v4
10g.53806778G>CCA376516338PCDH15c.3883C>G
c.5024C>G (p.Pro1675Arg)
c.4835C>G (p.Pro1612Arg)
c.4832C>G (p.Pro1611Arg)
c.1052C>G (p.Pro351Arg)
c.4847C>G (p.Pro1616Arg)
c.4829C>G (p.Pro1610Arg)
c.1184C>G (p.Pro395Arg)
c.4850C>G (p.Pro1617Arg)
c.4958C>G (p.Pro1653Arg)
n.11316C>G
n.11307C>G
10g.53806778G=CA1910756215PCDH15c.3883C=
c.5024C= (p.Pro1675=)
c.4835C= (p.Pro1612=)
c.4832C= (p.Pro1611=)
c.1052C= (p.Pro351=)
c.4847C= (p.Pro1616=)
c.4829C= (p.Pro1610=)
c.1184C= (p.Pro395=)
c.4850C= (p.Pro1617=)
c.4958C= (p.Pro1653=)
n.11316C=
n.11307C=
10g.53806778G>TCA376516344PCDH15c.3883C>A
c.5024C>A (p.Pro1675His)
c.4835C>A (p.Pro1612His)
c.4832C>A (p.Pro1611His)
c.1052C>A (p.Pro351His)
c.4847C>A (p.Pro1616His)
c.4829C>A (p.Pro1610His)
c.1184C>A (p.Pro395His)
c.4850C>A (p.Pro1617His)
c.4958C>A (p.Pro1653His)
n.11316C>A
n.11307C>A
 gnomAD v4
10g.53806781delCA2609218340PCDH15c.3883del
c.5024del (p.Pro1675LeufsTer11)
c.4835del (p.Pro1612LeufsTer11)
c.4832del (p.Pro1611LeufsTer11)
c.1052del (p.Pro351LeufsTer11)
c.4847del (p.Pro1616LeufsTer11)
c.4829del (p.Pro1610LeufsTer11)
c.1184del (p.Pro395LeufsTer11)
c.4850del (p.Pro1617LeufsTer11)
c.4958del (p.Pro1653LeufsTer11)
n.11316del
n.11307del
 gnomAD v4
10g.53806779G>ACA376516347PCDH15c.3882C>T
c.5023C>T (p.Pro1675Ser)
c.4834C>T (p.Pro1612Ser)
c.4831C>T (p.Pro1611Ser)
c.1051C>T (p.Pro351Ser)
c.4846C>T (p.Pro1616Ser)
c.4828C>T (p.Pro1610Ser)
c.1183C>T (p.Pro395Ser)
c.4849C>T (p.Pro1617Ser)
c.4957C>T (p.Pro1653Ser)
n.11315C>T
n.11306C>T
 dbSNP gnomAD v2 gnomAD v4
10g.53806779G>CCA376516349PCDH15c.3882C>G
c.5023C>G (p.Pro1675Ala)
c.4834C>G (p.Pro1612Ala)
c.4831C>G (p.Pro1611Ala)
c.1051C>G (p.Pro351Ala)
c.4846C>G (p.Pro1616Ala)
c.4828C>G (p.Pro1610Ala)
c.1183C>G (p.Pro395Ala)
c.4849C>G (p.Pro1617Ala)
c.4957C>G (p.Pro1653Ala)
n.11315C>G
n.11306C>G
10g.53806779G=CA1910756218PCDH15c.3882C=
c.5023C= (p.Pro1675=)
c.4834C= (p.Pro1612=)
c.4831C= (p.Pro1611=)
c.1051C= (p.Pro351=)
c.4846C= (p.Pro1616=)
c.4828C= (p.Pro1610=)
c.1183C= (p.Pro395=)
c.4849C= (p.Pro1617=)
c.4957C= (p.Pro1653=)
n.11315C=
n.11306C=
10g.53806779G>TCA376516356PCDH15c.3882C>A
c.5023C>A (p.Pro1675Thr)
c.4834C>A (p.Pro1612Thr)
c.4831C>A (p.Pro1611Thr)
c.1051C>A (p.Pro351Thr)
c.4846C>A (p.Pro1616Thr)
c.4828C>A (p.Pro1610Thr)
c.1183C>A (p.Pro395Thr)
c.4849C>A (p.Pro1617Thr)
c.4957C>A (p.Pro1653Thr)
n.11315C>A
n.11306C>A
 gnomAD v4
10g.53806780G>ACA5504539PCDH15c.3881C>T
c.5022C>T (p.Ala1674=)
c.4833C>T (p.Ala1611=)
c.4830C>T (p.Ala1610=)
c.1050C>T (p.Ala350=)
c.4845C>T (p.Ala1615=)
c.4827C>T (p.Ala1609=)
c.1182C>T (p.Ala394=)
c.4848C>T (p.Ala1616=)
c.4956C>T (p.Ala1652=)
n.11314C>T
n.11305C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806780G>CCA469545904PCDH15c.3881C>G
c.5022C>G (p.Ala1674=)
c.4833C>G (p.Ala1611=)
c.4830C>G (p.Ala1610=)
c.1050C>G (p.Ala350=)
c.4845C>G (p.Ala1615=)
c.4827C>G (p.Ala1609=)
c.1182C>G (p.Ala394=)
c.4848C>G (p.Ala1616=)
c.4956C>G (p.Ala1652=)
n.11314C>G
n.11305C>G
10g.53806780G=CA1910756220PCDH15c.3881C=
c.5022C= (p.Ala1674=)
c.4833C= (p.Ala1611=)
c.4830C= (p.Ala1610=)
c.1050C= (p.Ala350=)
c.4845C= (p.Ala1615=)
c.4827C= (p.Ala1609=)
c.1182C= (p.Ala394=)
c.4848C= (p.Ala1616=)
c.4956C= (p.Ala1652=)
n.11314C=
n.11305C=
10g.53806780G>TCA469545905PCDH15c.3881C>A
c.5022C>A (p.Ala1674=)
c.4833C>A (p.Ala1611=)
c.4830C>A (p.Ala1610=)
c.1050C>A (p.Ala350=)
c.4845C>A (p.Ala1615=)
c.4827C>A (p.Ala1609=)
c.1182C>A (p.Ala394=)
c.4848C>A (p.Ala1616=)
c.4956C>A (p.Ala1652=)
n.11314C>A
n.11305C>A
10g.53806781G>ACA376516360PCDH15c.3880C>T
c.5021C>T (p.Ala1674Val)
c.4832C>T (p.Ala1611Val)
c.4829C>T (p.Ala1610Val)
c.1049C>T (p.Ala350Val)
c.4844C>T (p.Ala1615Val)
c.4826C>T (p.Ala1609Val)
c.1181C>T (p.Ala394Val)
c.4847C>T (p.Ala1616Val)
c.4955C>T (p.Ala1652Val)
n.11313C>T
n.11304C>T
10g.53806781G>CCA5504540PCDH15c.3880C>G
c.5021C>G (p.Ala1674Gly)
c.4832C>G (p.Ala1611Gly)
c.4829C>G (p.Ala1610Gly)
c.1049C>G (p.Ala350Gly)
c.4844C>G (p.Ala1615Gly)
c.4826C>G (p.Ala1609Gly)
c.1181C>G (p.Ala394Gly)
c.4847C>G (p.Ala1616Gly)
c.4955C>G (p.Ala1652Gly)
n.11313C>G
n.11304C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806781G=CA1910756224PCDH15c.3880C=
c.5021C= (p.Ala1674=)
c.4832C= (p.Ala1611=)
c.4829C= (p.Ala1610=)
c.1049C= (p.Ala350=)
c.4844C= (p.Ala1615=)
c.4826C= (p.Ala1609=)
c.1181C= (p.Ala394=)
c.4847C= (p.Ala1616=)
c.4955C= (p.Ala1652=)
n.11313C=
n.11304C=
10g.53806781G>TCA376516361PCDH15c.3880C>A
c.5021C>A (p.Ala1674Asp)
c.4832C>A (p.Ala1611Asp)
c.4829C>A (p.Ala1610Asp)
c.1049C>A (p.Ala350Asp)
c.4844C>A (p.Ala1615Asp)
c.4826C>A (p.Ala1609Asp)
c.1181C>A (p.Ala394Asp)
c.4847C>A (p.Ala1616Asp)
c.4955C>A (p.Ala1652Asp)
n.11313C>A
n.11304C>A
 dbSNP
10g.53806782C>ACA376516364PCDH15c.3879G>T
c.5020G>T (p.Ala1674Ser)
c.4831G>T (p.Ala1611Ser)
c.4828G>T (p.Ala1610Ser)
c.1048G>T (p.Ala350Ser)
c.4843G>T (p.Ala1615Ser)
c.4825G>T (p.Ala1609Ser)
c.1180G>T (p.Ala394Ser)
c.4846G>T (p.Ala1616Ser)
c.4954G>T (p.Ala1652Ser)
n.11312G>T
n.11303G>T
 dbSNP
10g.53806782C=CA1910756228PCDH15c.3879G=
c.5020G= (p.Ala1674=)
c.4831G= (p.Ala1611=)
c.4828G= (p.Ala1610=)
c.1048G= (p.Ala350=)
c.4843G= (p.Ala1615=)
c.4825G= (p.Ala1609=)
c.1180G= (p.Ala394=)
c.4846G= (p.Ala1616=)
c.4954G= (p.Ala1652=)
n.11312G=
n.11303G=
10g.53806782C>GCA376516369PCDH15c.3879G>C
c.5020G>C (p.Ala1674Pro)
c.4831G>C (p.Ala1611Pro)
c.4828G>C (p.Ala1610Pro)
c.1048G>C (p.Ala350Pro)
c.4843G>C (p.Ala1615Pro)
c.4825G>C (p.Ala1609Pro)
c.1180G>C (p.Ala394Pro)
c.4846G>C (p.Ala1616Pro)
c.4954G>C (p.Ala1652Pro)
n.11312G>C
n.11303G>C
10g.53806782C>TCA376516365PCDH15c.3879G>A
c.5020G>A (p.Ala1674Thr)
c.4831G>A (p.Ala1611Thr)
c.4828G>A (p.Ala1610Thr)
c.1048G>A (p.Ala350Thr)
c.4843G>A (p.Ala1615Thr)
c.4825G>A (p.Ala1609Thr)
c.1180G>A (p.Ala394Thr)
c.4846G>A (p.Ala1616Thr)
c.4954G>A (p.Ala1652Thr)
n.11312G>A
n.11303G>A
10g.53806783A>CCA376516373PCDH15c.3878T>G
c.5019T>G (p.Phe1673Leu)
c.4830T>G (p.Phe1610Leu)
c.4827T>G (p.Phe1609Leu)
c.1047T>G (p.Phe349Leu)
c.4842T>G (p.Phe1614Leu)
c.4824T>G (p.Phe1608Leu)
c.1179T>G (p.Phe393Leu)
c.4845T>G (p.Phe1615Leu)
c.4953T>G (p.Phe1651Leu)
n.11311T>G
n.11302T>G
10g.53806783A>GCA469545906PCDH15c.3878T>C
c.5019T>C (p.Phe1673=)
c.4830T>C (p.Phe1610=)
c.4827T>C (p.Phe1609=)
c.1047T>C (p.Phe349=)
c.4842T>C (p.Phe1614=)
c.4824T>C (p.Phe1608=)
c.1179T>C (p.Phe393=)
c.4845T>C (p.Phe1615=)
c.4953T>C (p.Phe1651=)
n.11311T>C
n.11302T>C
10g.53806783A>TCA376516374PCDH15c.3878T>A
c.5019T>A (p.Phe1673Leu)
c.4830T>A (p.Phe1610Leu)
c.4827T>A (p.Phe1609Leu)
c.1047T>A (p.Phe349Leu)
c.4842T>A (p.Phe1614Leu)
c.4824T>A (p.Phe1608Leu)
c.1179T>A (p.Phe393Leu)
c.4845T>A (p.Phe1615Leu)
c.4953T>A (p.Phe1651Leu)
n.11311T>A
n.11302T>A
10g.53806783_53806795dupCA5504541PCDH15c.3866_3878dup
c.5007_5019dup (p.Ala1674SerfsTer12)
c.4818_4830dup (p.Ala1611SerfsTer12)
c.4815_4827dup (p.Ala1610SerfsTer12)
c.1035_1047dup (p.Ala350SerfsTer12)
c.4830_4842dup (p.Ala1615SerfsTer12)
c.4812_4824dup (p.Ala1609SerfsTer12)
c.1167_1179dup (p.Ala394SerfsTer12)
c.4833_4845dup (p.Ala1616SerfsTer12)
c.4941_4953dup (p.Ala1652SerfsTer12)
n.11299_11311dup
n.11290_11302dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806784A=CA1910756230PCDH15c.3877T=
c.5018T= (p.Phe1673=)
c.4829T= (p.Phe1610=)
c.4826T= (p.Phe1609=)
c.1046T= (p.Phe349=)
c.4841T= (p.Phe1614=)
c.4823T= (p.Phe1608=)
c.1178T= (p.Phe393=)
c.4844T= (p.Phe1615=)
c.4952T= (p.Phe1651=)
n.11310T=
n.11301T=
10g.53806784A>CCA376516375PCDH15c.3877T>G
c.5018T>G (p.Phe1673Cys)
c.4829T>G (p.Phe1610Cys)
c.4826T>G (p.Phe1609Cys)
c.1046T>G (p.Phe349Cys)
c.4841T>G (p.Phe1614Cys)
c.4823T>G (p.Phe1608Cys)
c.1178T>G (p.Phe393Cys)
c.4844T>G (p.Phe1615Cys)
c.4952T>G (p.Phe1651Cys)
n.11310T>G
n.11301T>G
10g.53806784A>GCA376516376PCDH15c.3877T>C
c.5018T>C (p.Phe1673Ser)
c.4829T>C (p.Phe1610Ser)
c.4826T>C (p.Phe1609Ser)
c.1046T>C (p.Phe349Ser)
c.4841T>C (p.Phe1614Ser)
c.4823T>C (p.Phe1608Ser)
c.1178T>C (p.Phe393Ser)
c.4844T>C (p.Phe1615Ser)
c.4952T>C (p.Phe1651Ser)
n.11310T>C
n.11301T>C
 dbSNP
10g.53806784A>TCA376516378PCDH15c.3877T>A
c.5018T>A (p.Phe1673Tyr)
c.4829T>A (p.Phe1610Tyr)
c.4826T>A (p.Phe1609Tyr)
c.1046T>A (p.Phe349Tyr)
c.4841T>A (p.Phe1614Tyr)
c.4823T>A (p.Phe1608Tyr)
c.1178T>A (p.Phe393Tyr)
c.4844T>A (p.Phe1615Tyr)
c.4952T>A (p.Phe1651Tyr)
n.11310T>A
n.11301T>A
10g.53806785A>CCA376516379PCDH15c.3876T>G
c.5017T>G (p.Phe1673Val)
c.4828T>G (p.Phe1610Val)
c.4825T>G (p.Phe1609Val)
c.1045T>G (p.Phe349Val)
c.4840T>G (p.Phe1614Val)
c.4822T>G (p.Phe1608Val)
c.1177T>G (p.Phe393Val)
c.4843T>G (p.Phe1615Val)
c.4951T>G (p.Phe1651Val)
n.11309T>G
n.11300T>G
10g.53806785A>GCA376516381PCDH15c.3876T>C
c.5017T>C (p.Phe1673Leu)
c.4828T>C (p.Phe1610Leu)
c.4825T>C (p.Phe1609Leu)
c.1045T>C (p.Phe349Leu)
c.4840T>C (p.Phe1614Leu)
c.4822T>C (p.Phe1608Leu)
c.1177T>C (p.Phe393Leu)
c.4843T>C (p.Phe1615Leu)
c.4951T>C (p.Phe1651Leu)
n.11309T>C
n.11300T>C
 gnomAD v4
10g.53806785A>TCA376516384PCDH15c.3876T>A
c.5017T>A (p.Phe1673Ile)
c.4828T>A (p.Phe1610Ile)
c.4825T>A (p.Phe1609Ile)
c.1045T>A (p.Phe349Ile)
c.4840T>A (p.Phe1614Ile)
c.4822T>A (p.Phe1608Ile)
c.1177T>A (p.Phe393Ile)
c.4843T>A (p.Phe1615Ile)
c.4951T>A (p.Phe1651Ile)
n.11309T>A
n.11300T>A
 ClinVar
10g.53806786T>ACA469545908PCDH15c.3875A>T
c.5016A>T (p.Thr1672=)
c.4827A>T (p.Thr1609=)
c.4824A>T (p.Thr1608=)
c.1044A>T (p.Thr348=)
c.4839A>T (p.Thr1613=)
c.4821A>T (p.Thr1607=)
c.1176A>T (p.Thr392=)
c.4842A>T (p.Thr1614=)
c.4950A>T (p.Thr1650=)
n.11308A>T
n.11299A>T
10g.53806786T>CCA469545909PCDH15c.3875A>G
c.5016A>G (p.Thr1672=)
c.4827A>G (p.Thr1609=)
c.4824A>G (p.Thr1608=)
c.1044A>G (p.Thr348=)
c.4839A>G (p.Thr1613=)
c.4821A>G (p.Thr1607=)
c.1176A>G (p.Thr392=)
c.4842A>G (p.Thr1614=)
c.4950A>G (p.Thr1650=)
n.11308A>G
n.11299A>G
 dbSNP gnomAD v2 gnomAD v4
10g.53806786T>GCA469545907PCDH15c.3875A>C
c.5016A>C (p.Thr1672=)
c.4827A>C (p.Thr1609=)
c.4824A>C (p.Thr1608=)
c.1044A>C (p.Thr348=)
c.4839A>C (p.Thr1613=)
c.4821A>C (p.Thr1607=)
c.1176A>C (p.Thr392=)
c.4842A>C (p.Thr1614=)
c.4950A>C (p.Thr1650=)
n.11308A>C
n.11299A>C
 dbSNP gnomAD v4
10g.53806786T=CA1910756231PCDH15c.3875A=
c.5016A= (p.Thr1672=)
c.4827A= (p.Thr1609=)
c.4824A= (p.Thr1608=)
c.1044A= (p.Thr348=)
c.4839A= (p.Thr1613=)
c.4821A= (p.Thr1607=)
c.1176A= (p.Thr392=)
c.4842A= (p.Thr1614=)
c.4950A= (p.Thr1650=)
n.11308A=
n.11299A=
10g.53806787G>ACA376516387PCDH15c.3874C>T
c.5015C>T (p.Thr1672Ile)
c.4826C>T (p.Thr1609Ile)
c.4823C>T (p.Thr1608Ile)
c.1043C>T (p.Thr348Ile)
c.4838C>T (p.Thr1613Ile)
c.4820C>T (p.Thr1607Ile)
c.1175C>T (p.Thr392Ile)
c.4841C>T (p.Thr1614Ile)
c.4949C>T (p.Thr1650Ile)
n.11307C>T
n.11298C>T
 gnomAD v4
10g.53806787G>CCA376516389PCDH15c.3874C>G
c.5015C>G (p.Thr1672Arg)
c.4826C>G (p.Thr1609Arg)
c.4823C>G (p.Thr1608Arg)
c.1043C>G (p.Thr348Arg)
c.4838C>G (p.Thr1613Arg)
c.4820C>G (p.Thr1607Arg)
c.1175C>G (p.Thr392Arg)
c.4841C>G (p.Thr1614Arg)
c.4949C>G (p.Thr1650Arg)
n.11307C>G
n.11298C>G
10g.53806787G>TCA376516392PCDH15c.3874C>A
c.5015C>A (p.Thr1672Lys)
c.4826C>A (p.Thr1609Lys)
c.4823C>A (p.Thr1608Lys)
c.1043C>A (p.Thr348Lys)
c.4838C>A (p.Thr1613Lys)
c.4820C>A (p.Thr1607Lys)
c.1175C>A (p.Thr392Lys)
c.4841C>A (p.Thr1614Lys)
c.4949C>A (p.Thr1650Lys)
n.11307C>A
n.11298C>A
10g.53806788T>ACA376516402PCDH15c.3873A>T
c.5014A>T (p.Thr1672Ser)
c.4825A>T (p.Thr1609Ser)
c.4822A>T (p.Thr1608Ser)
c.1042A>T (p.Thr348Ser)
c.4837A>T (p.Thr1613Ser)
c.4819A>T (p.Thr1607Ser)
c.1174A>T (p.Thr392Ser)
c.4840A>T (p.Thr1614Ser)
c.4948A>T (p.Thr1650Ser)
n.11306A>T
n.11297A>T
10g.53806788T>CCA376516400PCDH15c.3873A>G
c.5014A>G (p.Thr1672Ala)
c.4825A>G (p.Thr1609Ala)
c.4822A>G (p.Thr1608Ala)
c.1042A>G (p.Thr348Ala)
c.4837A>G (p.Thr1613Ala)
c.4819A>G (p.Thr1607Ala)
c.1174A>G (p.Thr392Ala)
c.4840A>G (p.Thr1614Ala)
c.4948A>G (p.Thr1650Ala)
n.11306A>G
n.11297A>G
 gnomAD v4
10g.53806788T>GCA376516401PCDH15c.3873A>C
c.5014A>C (p.Thr1672Pro)
c.4825A>C (p.Thr1609Pro)
c.4822A>C (p.Thr1608Pro)
c.1042A>C (p.Thr348Pro)
c.4837A>C (p.Thr1613Pro)
c.4819A>C (p.Thr1607Pro)
c.1174A>C (p.Thr392Pro)
c.4840A>C (p.Thr1614Pro)
c.4948A>C (p.Thr1650Pro)
n.11306A>C
n.11297A>C
10g.53806789A>CCA469545910PCDH15c.3872T>G
c.5013T>G (p.Val1671=)
c.4824T>G (p.Val1608=)
c.4821T>G (p.Val1607=)
c.1041T>G (p.Val347=)
c.4836T>G (p.Val1612=)
c.4818T>G (p.Val1606=)
c.1173T>G (p.Val391=)
c.4839T>G (p.Val1613=)
c.4947T>G (p.Val1649=)
n.11305T>G
n.11296T>G
 gnomAD v4
10g.53806789A>GCA469545911PCDH15c.3872T>C
c.5013T>C (p.Val1671=)
c.4824T>C (p.Val1608=)
c.4821T>C (p.Val1607=)
c.1041T>C (p.Val347=)
c.4836T>C (p.Val1612=)
c.4818T>C (p.Val1606=)
c.1173T>C (p.Val391=)
c.4839T>C (p.Val1613=)
c.4947T>C (p.Val1649=)
n.11305T>C
n.11296T>C
10g.53806789A>TCA469545912PCDH15c.3872T>A
c.5013T>A (p.Val1671=)
c.4824T>A (p.Val1608=)
c.4821T>A (p.Val1607=)
c.1041T>A (p.Val347=)
c.4836T>A (p.Val1612=)
c.4818T>A (p.Val1606=)
c.1173T>A (p.Val391=)
c.4839T>A (p.Val1613=)
c.4947T>A (p.Val1649=)
n.11305T>A
n.11296T>A
10g.53806790A>CCA376516403PCDH15c.3871T>G
c.5012T>G (p.Val1671Gly)
c.4823T>G (p.Val1608Gly)
c.4820T>G (p.Val1607Gly)
c.1040T>G (p.Val347Gly)
c.4835T>G (p.Val1612Gly)
c.4817T>G (p.Val1606Gly)
c.1172T>G (p.Val391Gly)
c.4838T>G (p.Val1613Gly)
c.4946T>G (p.Val1649Gly)
n.11304T>G
n.11295T>G
10g.53806790A>GCA376516404PCDH15c.3871T>C
c.5012T>C (p.Val1671Ala)
c.4823T>C (p.Val1608Ala)
c.4820T>C (p.Val1607Ala)
c.1040T>C (p.Val347Ala)
c.4835T>C (p.Val1612Ala)
c.4817T>C (p.Val1606Ala)
c.1172T>C (p.Val391Ala)
c.4838T>C (p.Val1613Ala)
c.4946T>C (p.Val1649Ala)
n.11304T>C
n.11295T>C
10g.53806790A>TCA376516405PCDH15c.3871T>A
c.5012T>A (p.Val1671Asp)
c.4823T>A (p.Val1608Asp)
c.4820T>A (p.Val1607Asp)
c.1040T>A (p.Val347Asp)
c.4835T>A (p.Val1612Asp)
c.4817T>A (p.Val1606Asp)
c.1172T>A (p.Val391Asp)
c.4838T>A (p.Val1613Asp)
c.4946T>A (p.Val1649Asp)
n.11304T>A
n.11295T>A
10g.53806791C>ACA376516409PCDH15c.3870G>T
c.5011G>T (p.Val1671Phe)
c.4822G>T (p.Val1608Phe)
c.4819G>T (p.Val1607Phe)
c.1039G>T (p.Val347Phe)
c.4834G>T (p.Val1612Phe)
c.4816G>T (p.Val1606Phe)
c.1171G>T (p.Val391Phe)
c.4837G>T (p.Val1613Phe)
c.4945G>T (p.Val1649Phe)
n.11303G>T
n.11294G>T
10g.53806791C=CA1910756233PCDH15c.3870G=
c.5011G= (p.Val1671=)
c.4822G= (p.Val1608=)
c.4819G= (p.Val1607=)
c.1039G= (p.Val347=)
c.4834G= (p.Val1612=)
c.4816G= (p.Val1606=)
c.1171G= (p.Val391=)
c.4837G= (p.Val1613=)
c.4945G= (p.Val1649=)
n.11303G=
n.11294G=
10g.53806791C>GCA376516412PCDH15c.3870G>C
c.5011G>C (p.Val1671Leu)
c.4822G>C (p.Val1608Leu)
c.4819G>C (p.Val1607Leu)
c.1039G>C (p.Val347Leu)
c.4834G>C (p.Val1612Leu)
c.4816G>C (p.Val1606Leu)
c.1171G>C (p.Val391Leu)
c.4837G>C (p.Val1613Leu)
c.4945G>C (p.Val1649Leu)
n.11303G>C
n.11294G>C
10g.53806791C>TCA5504542PCDH15c.3870G>A
c.5011G>A (p.Val1671Ile)
c.4822G>A (p.Val1608Ile)
c.4819G>A (p.Val1607Ile)
c.1039G>A (p.Val347Ile)
c.4834G>A (p.Val1612Ile)
c.4816G>A (p.Val1606Ile)
c.1171G>A (p.Val391Ile)
c.4837G>A (p.Val1613Ile)
c.4945G>A (p.Val1649Ile)
n.11303G>A
n.11294G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806792C>ACA469545913PCDH15c.3869G>T
c.5010G>T (p.Leu1670=)
c.4821G>T (p.Leu1607=)
c.4818G>T (p.Leu1606=)
c.1038G>T (p.Leu346=)
c.4833G>T (p.Leu1611=)
c.4815G>T (p.Leu1605=)
c.1170G>T (p.Leu390=)
c.4836G>T (p.Leu1612=)
c.4944G>T (p.Leu1648=)
n.11302G>T
n.11293G>T
 gnomAD v4
10g.53806792C=CA1910756237PCDH15c.3869G=
c.5010G= (p.Leu1670=)
c.4821G= (p.Leu1607=)
c.4818G= (p.Leu1606=)
c.1038G= (p.Leu346=)
c.4833G= (p.Leu1611=)
c.4815G= (p.Leu1605=)
c.1170G= (p.Leu390=)
c.4836G= (p.Leu1612=)
c.4944G= (p.Leu1648=)
n.11302G=
n.11293G=
10g.53806792C>GCA469545914PCDH15c.3869G>C
c.5010G>C (p.Leu1670=)
c.4821G>C (p.Leu1607=)
c.4818G>C (p.Leu1606=)
c.1038G>C (p.Leu346=)
c.4833G>C (p.Leu1611=)
c.4815G>C (p.Leu1605=)
c.1170G>C (p.Leu390=)
c.4836G>C (p.Leu1612=)
c.4944G>C (p.Leu1648=)
n.11302G>C
n.11293G>C
10g.53806792C>TCA5504543PCDH15c.3869G>A
c.5010G>A (p.Leu1670=)
c.4821G>A (p.Leu1607=)
c.4818G>A (p.Leu1606=)
c.1038G>A (p.Leu346=)
c.4833G>A (p.Leu1611=)
c.4815G>A (p.Leu1605=)
c.1170G>A (p.Leu390=)
c.4836G>A (p.Leu1612=)
c.4944G>A (p.Leu1648=)
n.11302G>A
n.11293G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806793A=CA1910756238PCDH15c.3868T=
c.5009T= (p.Leu1670=)
c.4820T= (p.Leu1607=)
c.4817T= (p.Leu1606=)
c.1037T= (p.Leu346=)
c.4832T= (p.Leu1611=)
c.4814T= (p.Leu1605=)
c.1169T= (p.Leu390=)
c.4835T= (p.Leu1612=)
c.4943T= (p.Leu1648=)
n.11301T=
n.11292T=
10g.53806793A>CCA376516420PCDH15c.3868T>G
c.5009T>G (p.Leu1670Arg)
c.4820T>G (p.Leu1607Arg)
c.4817T>G (p.Leu1606Arg)
c.1037T>G (p.Leu346Arg)
c.4832T>G (p.Leu1611Arg)
c.4814T>G (p.Leu1605Arg)
c.1169T>G (p.Leu390Arg)
c.4835T>G (p.Leu1612Arg)
c.4943T>G (p.Leu1648Arg)
n.11301T>G
n.11292T>G
10g.53806793A>GCA376516422PCDH15c.3868T>C
c.5009T>C (p.Leu1670Pro)
c.4820T>C (p.Leu1607Pro)
c.4817T>C (p.Leu1606Pro)
c.1037T>C (p.Leu346Pro)
c.4832T>C (p.Leu1611Pro)
c.4814T>C (p.Leu1605Pro)
c.1169T>C (p.Leu390Pro)
c.4835T>C (p.Leu1612Pro)
c.4943T>C (p.Leu1648Pro)
n.11301T>C
n.11292T>C
 gnomAD v4
10g.53806793A>TCA376516425PCDH15c.3868T>A
c.5009T>A (p.Leu1670Gln)
c.4820T>A (p.Leu1607Gln)
c.4817T>A (p.Leu1606Gln)
c.1037T>A (p.Leu346Gln)
c.4832T>A (p.Leu1611Gln)
c.4814T>A (p.Leu1605Gln)
c.1169T>A (p.Leu390Gln)
c.4835T>A (p.Leu1612Gln)
c.4943T>A (p.Leu1648Gln)
n.11301T>A
n.11292T>A
10g.53806794G>ACA5504547PCDH15c.3867C>T
c.5008C>T (p.Leu1670=)
c.4819C>T (p.Leu1607=)
c.4816C>T (p.Leu1606=)
c.1036C>T (p.Leu346=)
c.4831C>T (p.Leu1611=)
c.4813C>T (p.Leu1605=)
c.1168C>T (p.Leu390=)
c.4834C>T (p.Leu1612=)
c.4942C>T (p.Leu1648=)
n.11300C>T
n.11291C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806794G>CCA5504546PCDH15c.3867C>G
c.5008C>G (p.Leu1670Val)
c.4819C>G (p.Leu1607Val)
c.4816C>G (p.Leu1606Val)
c.1036C>G (p.Leu346Val)
c.4831C>G (p.Leu1611Val)
c.4813C>G (p.Leu1605Val)
c.1168C>G (p.Leu390Val)
c.4834C>G (p.Leu1612Val)
c.4942C>G (p.Leu1648Val)
n.11300C>G
n.11291C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806794G=CA1910756242PCDH15c.3867C=
c.5008C= (p.Leu1670=)
c.4819C= (p.Leu1607=)
c.4816C= (p.Leu1606=)
c.1036C= (p.Leu346=)
c.4831C= (p.Leu1611=)
c.4813C= (p.Leu1605=)
c.1168C= (p.Leu390=)
c.4834C= (p.Leu1612=)
c.4942C= (p.Leu1648=)
n.11300C=
n.11291C=
10g.53806794G>TCA376516431PCDH15c.3867C>A
c.5008C>A (p.Leu1670Met)
c.4819C>A (p.Leu1607Met)
c.4816C>A (p.Leu1606Met)
c.1036C>A (p.Leu346Met)
c.4831C>A (p.Leu1611Met)
c.4813C>A (p.Leu1605Met)
c.1168C>A (p.Leu390Met)
c.4834C>A (p.Leu1612Met)
c.4942C>A (p.Leu1648Met)
n.11300C>A
n.11291C>A
10g.53806794_53806797dupCA5504544PCDH15c.3864_3867dup
c.5005_5008dup (p.Leu1670HisfsTer13)
c.4816_4819dup (p.Leu1607HisfsTer13)
c.4813_4816dup (p.Leu1606HisfsTer13)
c.1033_1036dup (p.Leu346HisfsTer13)
c.4828_4831dup (p.Leu1611HisfsTer13)
c.4810_4813dup (p.Leu1605HisfsTer13)
c.1165_1168dup (p.Leu390HisfsTer13)
c.4831_4834dup (p.Leu1612HisfsTer13)
c.4939_4942dup (p.Leu1648HisfsTer13)
n.11297_11300dup
n.11288_11291dup
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.53806795_53806799dupCA5504545PCDH15c.3863_3867dup
c.5004_5008dup (p.Leu1670GlnfsTer18)
c.4815_4819dup (p.Leu1607GlnfsTer18)
c.4812_4816dup (p.Leu1606GlnfsTer18)
c.1032_1036dup (p.Leu346GlnfsTer18)
c.4827_4831dup (p.Leu1611GlnfsTer18)
c.4809_4813dup (p.Leu1605GlnfsTer18)
c.1164_1168dup (p.Leu390GlnfsTer18)
c.4830_4834dup (p.Leu1612GlnfsTer18)
c.4938_4942dup (p.Leu1648GlnfsTer18)
n.11296_11300dup
n.11287_11291dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806795A=CA1910756246PCDH15c.3866T=
c.5007T= (p.Thr1669=)
c.4818T= (p.Thr1606=)
c.4815T= (p.Thr1605=)
c.1035T= (p.Thr345=)
c.4830T= (p.Thr1610=)
c.4812T= (p.Thr1604=)
c.1167T= (p.Thr389=)
c.4833T= (p.Thr1611=)
c.4941T= (p.Thr1647=)
n.11299T=
n.11290T=
10g.53806795A>CCA469545916PCDH15c.3866T>G
c.5007T>G (p.Thr1669=)
c.4818T>G (p.Thr1606=)
c.4815T>G (p.Thr1605=)
c.1035T>G (p.Thr345=)
c.4830T>G (p.Thr1610=)
c.4812T>G (p.Thr1604=)
c.1167T>G (p.Thr389=)
c.4833T>G (p.Thr1611=)
c.4941T>G (p.Thr1647=)
n.11299T>G
n.11290T>G
 gnomAD v4
10g.53806795A>GCA469545917PCDH15c.3866T>C
c.5007T>C (p.Thr1669=)
c.4818T>C (p.Thr1606=)
c.4815T>C (p.Thr1605=)
c.1035T>C (p.Thr345=)
c.4830T>C (p.Thr1610=)
c.4812T>C (p.Thr1604=)
c.1167T>C (p.Thr389=)
c.4833T>C (p.Thr1611=)
c.4941T>C (p.Thr1647=)
n.11299T>C
n.11290T>C
10g.53806795A>TCA469545915PCDH15c.3866T>A
c.5007T>A (p.Thr1669=)
c.4818T>A (p.Thr1606=)
c.4815T>A (p.Thr1605=)
c.1035T>A (p.Thr345=)
c.4830T>A (p.Thr1610=)
c.4812T>A (p.Thr1604=)
c.1167T>A (p.Thr389=)
c.4833T>A (p.Thr1611=)
c.4941T>A (p.Thr1647=)
n.11299T>A
n.11290T>A
 dbSNP gnomAD v3 gnomAD v4
10g.53806796G>ACA376516441PCDH15c.3865C>T
c.5006C>T (p.Thr1669Ile)
c.4817C>T (p.Thr1606Ile)
c.4814C>T (p.Thr1605Ile)
c.1034C>T (p.Thr345Ile)
c.4829C>T (p.Thr1610Ile)
c.4811C>T (p.Thr1604Ile)
c.1166C>T (p.Thr389Ile)
c.4832C>T (p.Thr1611Ile)
c.4940C>T (p.Thr1647Ile)
n.11298C>T
n.11289C>T
 dbSNP gnomAD v3 gnomAD v4
10g.53806796G>CCA376516440PCDH15c.3865C>G
c.5006C>G (p.Thr1669Ser)
c.4817C>G (p.Thr1606Ser)
c.4814C>G (p.Thr1605Ser)
c.1034C>G (p.Thr345Ser)
c.4829C>G (p.Thr1610Ser)
c.4811C>G (p.Thr1604Ser)
c.1166C>G (p.Thr389Ser)
c.4832C>G (p.Thr1611Ser)
c.4940C>G (p.Thr1647Ser)
n.11298C>G
n.11289C>G
10g.53806796G=CA1910756249PCDH15c.3865C=
c.5006C= (p.Thr1669=)
c.4817C= (p.Thr1606=)
c.4814C= (p.Thr1605=)
c.1034C= (p.Thr345=)
c.4829C= (p.Thr1610=)
c.4811C= (p.Thr1604=)
c.1166C= (p.Thr389=)
c.4832C= (p.Thr1611=)
c.4940C= (p.Thr1647=)
n.11298C=
n.11289C=
10g.53806796G>TCA376516442PCDH15c.3865C>A
c.5006C>A (p.Thr1669Asn)
c.4817C>A (p.Thr1606Asn)
c.4814C>A (p.Thr1605Asn)
c.1034C>A (p.Thr345Asn)
c.4829C>A (p.Thr1610Asn)
c.4811C>A (p.Thr1604Asn)
c.1166C>A (p.Thr389Asn)
c.4832C>A (p.Thr1611Asn)
c.4940C>A (p.Thr1647Asn)
n.11298C>A
n.11289C>A
10g.53806797_53806799dupCA1910756248PCDH15c.3863_3865dup
c.5004_5006dup (p.Thr1669_Leu1670insThr)
c.4815_4817dup (p.Thr1606_Leu1607insThr)
c.4812_4814dup (p.Thr1605_Leu1606insThr)
c.1032_1034dup (p.Thr345_Leu346insThr)
c.4827_4829dup (p.Thr1610_Leu1611insThr)
c.4809_4811dup (p.Thr1604_Leu1605insThr)
c.1164_1166dup (p.Thr389_Leu390insThr)
c.4830_4832dup (p.Thr1611_Leu1612insThr)
c.4938_4940dup (p.Thr1647_Leu1648insThr)
n.11296_11298dup
n.11287_11289dup
 dbSNP
10g.53806797T>ACA376516443PCDH15c.3864A>T
c.5005A>T (p.Thr1669Ser)
c.4816A>T (p.Thr1606Ser)
c.4813A>T (p.Thr1605Ser)
c.1033A>T (p.Thr345Ser)
c.4828A>T (p.Thr1610Ser)
c.4810A>T (p.Thr1604Ser)
c.1165A>T (p.Thr389Ser)
c.4831A>T (p.Thr1611Ser)
c.4939A>T (p.Thr1647Ser)
n.11297A>T
n.11288A>T
10g.53806797T>CCA5504548PCDH15c.3864A>G
c.5005A>G (p.Thr1669Ala)
c.4816A>G (p.Thr1606Ala)
c.4813A>G (p.Thr1605Ala)
c.1033A>G (p.Thr345Ala)
c.4828A>G (p.Thr1610Ala)
c.4810A>G (p.Thr1604Ala)
c.1165A>G (p.Thr389Ala)
c.4831A>G (p.Thr1611Ala)
c.4939A>G (p.Thr1647Ala)
n.11297A>G
n.11288A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806797T>GCA376516446PCDH15c.3864A>C
c.5005A>C (p.Thr1669Pro)
c.4816A>C (p.Thr1606Pro)
c.4813A>C (p.Thr1605Pro)
c.1033A>C (p.Thr345Pro)
c.4828A>C (p.Thr1610Pro)
c.4810A>C (p.Thr1604Pro)
c.1165A>C (p.Thr389Pro)
c.4831A>C (p.Thr1611Pro)
c.4939A>C (p.Thr1647Pro)
n.11297A>C
n.11288A>C
10g.53806797T=CA1910756252PCDH15c.3864A=
c.5005A= (p.Thr1669=)
c.4816A= (p.Thr1606=)
c.4813A= (p.Thr1605=)
c.1033A= (p.Thr345=)
c.4828A= (p.Thr1610=)
c.4810A= (p.Thr1604=)
c.1165A= (p.Thr389=)
c.4831A= (p.Thr1611=)
c.4939A= (p.Thr1647=)
n.11297A=
n.11288A=
10g.53806798T>ACA469545918PCDH15c.3863A>T
c.5004A>T (p.Pro1668=)
c.4815A>T (p.Pro1605=)
c.4812A>T (p.Pro1604=)
c.1032A>T (p.Pro344=)
c.4827A>T (p.Pro1609=)
c.4809A>T (p.Pro1603=)
c.1164A>T (p.Pro388=)
c.4830A>T (p.Pro1610=)
c.4938A>T (p.Pro1646=)
n.11296A>T
n.11287A>T
10g.53806798T>CCA469545919PCDH15c.3863A>G
c.5004A>G (p.Pro1668=)
c.4815A>G (p.Pro1605=)
c.4812A>G (p.Pro1604=)
c.1032A>G (p.Pro344=)
c.4827A>G (p.Pro1609=)
c.4809A>G (p.Pro1603=)
c.1164A>G (p.Pro388=)
c.4830A>G (p.Pro1610=)
c.4938A>G (p.Pro1646=)
n.11296A>G
n.11287A>G
10g.53806798T>GCA469545920PCDH15c.3863A>C
c.5004A>C (p.Pro1668=)
c.4815A>C (p.Pro1605=)
c.4812A>C (p.Pro1604=)
c.1032A>C (p.Pro344=)
c.4827A>C (p.Pro1609=)
c.4809A>C (p.Pro1603=)
c.1164A>C (p.Pro388=)
c.4830A>C (p.Pro1610=)
c.4938A>C (p.Pro1646=)
n.11296A>C
n.11287A>C
10g.53806799G>ACA5504549PCDH15c.3862C>T
c.5003C>T (p.Pro1668Leu)
c.4814C>T (p.Pro1605Leu)
c.4811C>T (p.Pro1604Leu)
c.1031C>T (p.Pro344Leu)
c.4826C>T (p.Pro1609Leu)
c.4808C>T (p.Pro1603Leu)
c.1163C>T (p.Pro388Leu)
c.4829C>T (p.Pro1610Leu)
c.4937C>T (p.Pro1646Leu)
n.11295C>T
n.11286C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806799G>CCA376516448PCDH15c.3862C>G
c.5003C>G (p.Pro1668Arg)
c.4814C>G (p.Pro1605Arg)
c.4811C>G (p.Pro1604Arg)
c.1031C>G (p.Pro344Arg)
c.4826C>G (p.Pro1609Arg)
c.4808C>G (p.Pro1603Arg)
c.1163C>G (p.Pro388Arg)
c.4829C>G (p.Pro1610Arg)
c.4937C>G (p.Pro1646Arg)
n.11295C>G
n.11286C>G
10g.53806799G=CA1910756255PCDH15c.3862C=
c.5003C= (p.Pro1668=)
c.4814C= (p.Pro1605=)
c.4811C= (p.Pro1604=)
c.1031C= (p.Pro344=)
c.4826C= (p.Pro1609=)
c.4808C= (p.Pro1603=)
c.1163C= (p.Pro388=)
c.4829C= (p.Pro1610=)
c.4937C= (p.Pro1646=)
n.11295C=
n.11286C=
10g.53806799G>TCA376516450PCDH15c.3862C>A
c.5003C>A (p.Pro1668Gln)
c.4814C>A (p.Pro1605Gln)
c.4811C>A (p.Pro1604Gln)
c.1031C>A (p.Pro344Gln)
c.4826C>A (p.Pro1609Gln)
c.4808C>A (p.Pro1603Gln)
c.1163C>A (p.Pro388Gln)
c.4829C>A (p.Pro1610Gln)
c.4937C>A (p.Pro1646Gln)
n.11295C>A
n.11286C>A
10g.53806800G>ACA376516452PCDH15c.3861C>T
c.5002C>T (p.Pro1668Ser)
c.4813C>T (p.Pro1605Ser)
c.4810C>T (p.Pro1604Ser)
c.1030C>T (p.Pro344Ser)
c.4825C>T (p.Pro1609Ser)
c.4807C>T (p.Pro1603Ser)
c.1162C>T (p.Pro388Ser)
c.4828C>T (p.Pro1610Ser)
c.4936C>T (p.Pro1646Ser)
n.11294C>T
n.11285C>T
10g.53806800G>CCA376516453PCDH15c.3861C>G
c.5002C>G (p.Pro1668Ala)
c.4813C>G (p.Pro1605Ala)
c.4810C>G (p.Pro1604Ala)
c.1030C>G (p.Pro344Ala)
c.4825C>G (p.Pro1609Ala)
c.4807C>G (p.Pro1603Ala)
c.1162C>G (p.Pro388Ala)
c.4828C>G (p.Pro1610Ala)
c.4936C>G (p.Pro1646Ala)
n.11294C>G
n.11285C>G
10g.53806800G=CA1910756259PCDH15c.3861C=
c.5002C= (p.Pro1668=)
c.4813C= (p.Pro1605=)
c.4810C= (p.Pro1604=)
c.1030C= (p.Pro344=)
c.4825C= (p.Pro1609=)
c.4807C= (p.Pro1603=)
c.1162C= (p.Pro388=)
c.4828C= (p.Pro1610=)
c.4936C= (p.Pro1646=)
n.11294C=
n.11285C=
10g.53806800G>TCA376516454PCDH15c.3861C>A
c.5002C>A (p.Pro1668Thr)
c.4813C>A (p.Pro1605Thr)
c.4810C>A (p.Pro1604Thr)
c.1030C>A (p.Pro344Thr)
c.4825C>A (p.Pro1609Thr)
c.4807C>A (p.Pro1603Thr)
c.1162C>A (p.Pro388Thr)
c.4828C>A (p.Pro1610Thr)
c.4936C>A (p.Pro1646Thr)
n.11294C>A
n.11285C>A
10g.53806801T>ACA376516456PCDH15c.3860A>T
c.5001A>T (p.Arg1667Ser)
c.4812A>T (p.Arg1604Ser)
c.4809A>T (p.Arg1603Ser)
c.1029A>T (p.Arg343Ser)
c.4824A>T (p.Arg1608Ser)
c.4806A>T (p.Arg1602Ser)
c.1161A>T (p.Arg387Ser)
c.4827A>T (p.Arg1609Ser)
c.4935A>T (p.Arg1645Ser)
n.11293A>T
n.11284A>T
10g.53806801T>CCA469545921PCDH15c.3860A>G
c.5001A>G (p.Arg1667=)
c.4812A>G (p.Arg1604=)
c.4809A>G (p.Arg1603=)
c.1029A>G (p.Arg343=)
c.4824A>G (p.Arg1608=)
c.4806A>G (p.Arg1602=)
c.1161A>G (p.Arg387=)
c.4827A>G (p.Arg1609=)
c.4935A>G (p.Arg1645=)
n.11293A>G
n.11284A>G
 dbSNP gnomAD v2 gnomAD v4
10g.53806801T>GCA376516457PCDH15c.3860A>C
c.5001A>C (p.Arg1667Ser)
c.4812A>C (p.Arg1604Ser)
c.4809A>C (p.Arg1603Ser)
c.1029A>C (p.Arg343Ser)
c.4824A>C (p.Arg1608Ser)
c.4806A>C (p.Arg1602Ser)
c.1161A>C (p.Arg387Ser)
c.4827A>C (p.Arg1609Ser)
c.4935A>C (p.Arg1645Ser)
n.11293A>C
n.11284A>C
 dbSNP
10g.53806801T=CA1910756263PCDH15c.3860A=
c.5001A= (p.Arg1667=)
c.4812A= (p.Arg1604=)
c.4809A= (p.Arg1603=)
c.1029A= (p.Arg343=)
c.4824A= (p.Arg1608=)
c.4806A= (p.Arg1602=)
c.1161A= (p.Arg387=)
c.4827A= (p.Arg1609=)
c.4935A= (p.Arg1645=)
n.11293A=
n.11284A=
10g.53806801_53806804dupCA918676862PCDH15c.3857_3860dup
c.4998_5001dup (p.Pro1668LysfsTer15)
c.4809_4812dup (p.Pro1605LysfsTer15)
c.4806_4809dup (p.Pro1604LysfsTer15)
c.1026_1029dup (p.Pro344LysfsTer15)
c.4821_4824dup (p.Pro1609LysfsTer15)
c.4803_4806dup (p.Pro1603LysfsTer15)
c.1158_1161dup (p.Pro388LysfsTer15)
c.4824_4827dup (p.Pro1610LysfsTer15)
c.4932_4935dup (p.Pro1646LysfsTer15)
n.11290_11293dup
n.11281_11284dup
 dbSNP
10g.53806802C>ACA376516465PCDH15c.3859G>T
c.5000G>T (p.Arg1667Ile)
c.4811G>T (p.Arg1604Ile)
c.4808G>T (p.Arg1603Ile)
c.1028G>T (p.Arg343Ile)
c.4823G>T (p.Arg1608Ile)
c.4805G>T (p.Arg1602Ile)
c.1160G>T (p.Arg387Ile)
c.4826G>T (p.Arg1609Ile)
c.4934G>T (p.Arg1645Ile)
n.11292G>T
n.11283G>T
 COSMIC
10g.53806802C>GCA376516459PCDH15c.3859G>C
c.5000G>C (p.Arg1667Thr)
c.4811G>C (p.Arg1604Thr)
c.4808G>C (p.Arg1603Thr)
c.1028G>C (p.Arg343Thr)
c.4823G>C (p.Arg1608Thr)
c.4805G>C (p.Arg1602Thr)
c.1160G>C (p.Arg387Thr)
c.4826G>C (p.Arg1609Thr)
c.4934G>C (p.Arg1645Thr)
n.11292G>C
n.11283G>C
10g.53806802C>TCA376516463PCDH15c.3859G>A
c.5000G>A (p.Arg1667Lys)
c.4811G>A (p.Arg1604Lys)
c.4808G>A (p.Arg1603Lys)
c.1028G>A (p.Arg343Lys)
c.4823G>A (p.Arg1608Lys)
c.4805G>A (p.Arg1602Lys)
c.1160G>A (p.Arg387Lys)
c.4826G>A (p.Arg1609Lys)
c.4934G>A (p.Arg1645Lys)
n.11292G>A
n.11283G>A
10g.53806803T>ACA376516467PCDH15c.3858A>T
c.4999A>T (p.Arg1667Ter)
c.4810A>T (p.Arg1604Ter)
c.4807A>T (p.Arg1603Ter)
c.1027A>T (p.Arg343Ter)
c.4822A>T (p.Arg1608Ter)
c.4804A>T (p.Arg1602Ter)
c.1159A>T (p.Arg387Ter)
c.4825A>T (p.Arg1609Ter)
c.4933A>T (p.Arg1645Ter)
n.11291A>T
n.11282A>T
10g.53806803T>CCA376516469PCDH15c.3858A>G
c.4999A>G (p.Arg1667Gly)
c.4810A>G (p.Arg1604Gly)
c.4807A>G (p.Arg1603Gly)
c.1027A>G (p.Arg343Gly)
c.4822A>G (p.Arg1608Gly)
c.4804A>G (p.Arg1602Gly)
c.1159A>G (p.Arg387Gly)
c.4825A>G (p.Arg1609Gly)
c.4933A>G (p.Arg1645Gly)
n.11291A>G
n.11282A>G
 gnomAD v4
10g.53806803T>GCA469545922PCDH15c.3858A>C
c.4999A>C (p.Arg1667=)
c.4810A>C (p.Arg1604=)
c.4807A>C (p.Arg1603=)
c.1027A>C (p.Arg343=)
c.4822A>C (p.Arg1608=)
c.4804A>C (p.Arg1602=)
c.1159A>C (p.Arg387=)
c.4825A>C (p.Arg1609=)
c.4933A>C (p.Arg1645=)
n.11291A>C
n.11282A>C
10g.53806804T>ACA469545923PCDH15c.3857A>T
c.4998A>T (p.Ala1666=)
c.4809A>T (p.Ala1603=)
c.4806A>T (p.Ala1602=)
c.1026A>T (p.Ala342=)
c.4821A>T (p.Ala1607=)
c.4803A>T (p.Ala1601=)
c.1158A>T (p.Ala386=)
c.4824A>T (p.Ala1608=)
c.4932A>T (p.Ala1644=)
n.11290A>T
n.11281A>T
10g.53806804T>CCA469545924PCDH15c.3857A>G
c.4998A>G (p.Ala1666=)
c.4809A>G (p.Ala1603=)
c.4806A>G (p.Ala1602=)
c.1026A>G (p.Ala342=)
c.4821A>G (p.Ala1607=)
c.4803A>G (p.Ala1601=)
c.1158A>G (p.Ala386=)
c.4824A>G (p.Ala1608=)
c.4932A>G (p.Ala1644=)
n.11290A>G
n.11281A>G
 dbSNP gnomAD v4
10g.53806804T>GCA469545925PCDH15c.3857A>C
c.4998A>C (p.Ala1666=)
c.4809A>C (p.Ala1603=)
c.4806A>C (p.Ala1602=)
c.1026A>C (p.Ala342=)
c.4821A>C (p.Ala1607=)
c.4803A>C (p.Ala1601=)
c.1158A>C (p.Ala386=)
c.4824A>C (p.Ala1608=)
c.4932A>C (p.Ala1644=)
n.11290A>C
n.11281A>C
10g.53806804T=CA1910756266PCDH15c.3857A=
c.4998A= (p.Ala1666=)
c.4809A= (p.Ala1603=)
c.4806A= (p.Ala1602=)
c.1026A= (p.Ala342=)
c.4821A= (p.Ala1607=)
c.4803A= (p.Ala1601=)
c.1158A= (p.Ala386=)
c.4824A= (p.Ala1608=)
c.4932A= (p.Ala1644=)
n.11290A=
n.11281A=
10g.53806805G>ACA376516476PCDH15c.3856C>T
c.4997C>T (p.Ala1666Val)
c.4808C>T (p.Ala1603Val)
c.4805C>T (p.Ala1602Val)
c.1025C>T (p.Ala342Val)
c.4820C>T (p.Ala1607Val)
c.4802C>T (p.Ala1601Val)
c.1157C>T (p.Ala386Val)
c.4823C>T (p.Ala1608Val)
c.4931C>T (p.Ala1644Val)
n.11289C>T
n.11280C>T
10g.53806805G>CCA376516478PCDH15c.3856C>G
c.4997C>G (p.Ala1666Gly)
c.4808C>G (p.Ala1603Gly)
c.4805C>G (p.Ala1602Gly)
c.1025C>G (p.Ala342Gly)
c.4820C>G (p.Ala1607Gly)
c.4802C>G (p.Ala1601Gly)
c.1157C>G (p.Ala386Gly)
c.4823C>G (p.Ala1608Gly)
c.4931C>G (p.Ala1644Gly)
n.11289C>G
n.11280C>G
10g.53806805G>TCA376516481PCDH15c.3856C>A
c.4997C>A (p.Ala1666Glu)
c.4808C>A (p.Ala1603Glu)
c.4805C>A (p.Ala1602Glu)
c.1025C>A (p.Ala342Glu)
c.4820C>A (p.Ala1607Glu)
c.4802C>A (p.Ala1601Glu)
c.1157C>A (p.Ala386Glu)
c.4823C>A (p.Ala1608Glu)
c.4931C>A (p.Ala1644Glu)
n.11289C>A
n.11280C>A
 gnomAD v4
10g.53806805_53806809delinsGCATTCA1910756269PCDH15c.3852_3856delinsAATGC
c.4993_4997delinsAATGC (p.Asn1665=)
c.4804_4808delinsAATGC (p.Asn1602=)
c.4801_4805delinsAATGC (p.Asn1601=)
c.1021_1025delinsAATGC (p.Asn341=)
c.4816_4820delinsAATGC (p.Asn1606=)
c.4798_4802delinsAATGC (p.Asn1600=)
c.1153_1157delinsAATGC (p.Asn385=)
c.4819_4823delinsAATGC (p.Asn1607=)
c.4927_4931delinsAATGC (p.Asn1643=)
n.11285_11289delinsAATGC
n.11276_11280delinsAATGC
10g.53806805_53806810delCA2788034495PCDH15c.3851_3856del
c.4992_4997del (p.Met1664_Ala1666delinsIle)
c.4803_4808del (p.Met1601_Ala1603delinsIle)
c.4800_4805del (p.Met1600_Ala1602delinsIle)
c.1020_1025del (p.Met340_Ala342delinsIle)
c.4815_4820del (p.Met1605_Ala1607delinsIle)
c.4797_4802del (p.Met1599_Ala1601delinsIle)
c.1152_1157del (p.Met384_Ala386delinsIle)
c.4818_4823del (p.Met1606_Ala1608delinsIle)
c.4926_4931del (p.Met1642_Ala1644delinsIle)
n.11284_11289del
n.11275_11280del
10g.53806806C>ACA376516485PCDH15c.3855G>T
c.4996G>T (p.Ala1666Ser)
c.4807G>T (p.Ala1603Ser)
c.4804G>T (p.Ala1602Ser)
c.1024G>T (p.Ala342Ser)
c.4819G>T (p.Ala1607Ser)
c.4801G>T (p.Ala1601Ser)
c.1156G>T (p.Ala386Ser)
c.4822G>T (p.Ala1608Ser)
c.4930G>T (p.Ala1644Ser)
n.11288G>T
n.11279G>T
10g.53806806C=CA1910756273PCDH15c.3855G=
c.4996G= (p.Ala1666=)
c.4807G= (p.Ala1603=)
c.4804G= (p.Ala1602=)
c.1024G= (p.Ala342=)
c.4819G= (p.Ala1607=)
c.4801G= (p.Ala1601=)
c.1156G= (p.Ala386=)
c.4822G= (p.Ala1608=)
c.4930G= (p.Ala1644=)
n.11288G=
n.11279G=
10g.53806806C>GCA376516487PCDH15c.3855G>C
c.4996G>C (p.Ala1666Pro)
c.4807G>C (p.Ala1603Pro)
c.4804G>C (p.Ala1602Pro)
c.1024G>C (p.Ala342Pro)
c.4819G>C (p.Ala1607Pro)
c.4801G>C (p.Ala1601Pro)
c.1156G>C (p.Ala386Pro)
c.4822G>C (p.Ala1608Pro)
c.4930G>C (p.Ala1644Pro)
n.11288G>C
n.11279G>C
10g.53806806C>TCA376516490PCDH15c.3855G>A
c.4996G>A (p.Ala1666Thr)
c.4807G>A (p.Ala1603Thr)
c.4804G>A (p.Ala1602Thr)
c.1024G>A (p.Ala342Thr)
c.4819G>A (p.Ala1607Thr)
c.4801G>A (p.Ala1601Thr)
c.1156G>A (p.Ala386Thr)
c.4822G>A (p.Ala1608Thr)
c.4930G>A (p.Ala1644Thr)
n.11288G>A
n.11279G>A
10g.53806810_53806813dupCA2609218341PCDH15c.3852_3855dup
c.4993_4996dup (p.Ala1666GlufsTer17)
c.4804_4807dup (p.Ala1603GlufsTer17)
c.4801_4804dup (p.Ala1602GlufsTer17)
c.1021_1024dup (p.Ala342GlufsTer17)
c.4816_4819dup (p.Ala1607GlufsTer17)
c.4798_4801dup (p.Ala1601GlufsTer17)
c.1153_1156dup (p.Ala386GlufsTer17)
c.4819_4822dup (p.Ala1608GlufsTer17)
c.4927_4930dup (p.Ala1644GlufsTer17)
n.11285_11288dup
n.11276_11279dup
 gnomAD v4
10g.53806810_53806813delCA593782935PCDH15c.3852_3855del
c.4993_4996del (p.Asn1665GlnfsTer20)
c.4804_4807del (p.Asn1602GlnfsTer20)
c.4801_4804del (p.Asn1601GlnfsTer20)
c.1021_1024del (p.Asn341GlnfsTer20)
c.4816_4819del (p.Asn1606GlnfsTer20)
c.4798_4801del (p.Asn1600GlnfsTer20)
c.1153_1156del (p.Asn385GlnfsTer20)
c.4819_4822del (p.Asn1607GlnfsTer20)
c.4927_4930del (p.Asn1643GlnfsTer20)
n.11285_11288del
n.11276_11279del
 dbSNP gnomAD v2 gnomAD v4
10g.53806807A=CA1910756277PCDH15c.3854T=
c.4995T= (p.Asn1665=)
c.4806T= (p.Asn1602=)
c.4803T= (p.Asn1601=)
c.1023T= (p.Asn341=)
c.4818T= (p.Asn1606=)
c.4800T= (p.Asn1600=)
c.1155T= (p.Asn385=)
c.4821T= (p.Asn1607=)
c.4929T= (p.Asn1643=)
n.11287T=
n.11278T=
10g.53806807A>CCA5504550PCDH15c.3854T>G
c.4995T>G (p.Asn1665Lys)
c.4806T>G (p.Asn1602Lys)
c.4803T>G (p.Asn1601Lys)
c.1023T>G (p.Asn341Lys)
c.4818T>G (p.Asn1606Lys)
c.4800T>G (p.Asn1600Lys)
c.1155T>G (p.Asn385Lys)
c.4821T>G (p.Asn1607Lys)
c.4929T>G (p.Asn1643Lys)
n.11287T>G
n.11278T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806807A>GCA469545926PCDH15c.3854T>C
c.4995T>C (p.Asn1665=)
c.4806T>C (p.Asn1602=)
c.4803T>C (p.Asn1601=)
c.1023T>C (p.Asn341=)
c.4818T>C (p.Asn1606=)
c.4800T>C (p.Asn1600=)
c.1155T>C (p.Asn385=)
c.4821T>C (p.Asn1607=)
c.4929T>C (p.Asn1643=)
n.11287T>C
n.11278T>C
 gnomAD v4
10g.53806807A>TCA376516499PCDH15c.3854T>A
c.4995T>A (p.Asn1665Lys)
c.4806T>A (p.Asn1602Lys)
c.4803T>A (p.Asn1601Lys)
c.1023T>A (p.Asn341Lys)
c.4818T>A (p.Asn1606Lys)
c.4800T>A (p.Asn1600Lys)
c.1155T>A (p.Asn385Lys)
c.4821T>A (p.Asn1607Lys)
c.4929T>A (p.Asn1643Lys)
n.11287T>A
n.11278T>A
 COSMIC
10g.53806808_53806826dupCA593782936PCDH15c.3836_3854dup
c.4977_4995dup (p.Ala1666PhefsTer3)
c.4788_4806dup (p.Ala1603PhefsTer3)
c.4785_4803dup (p.Ala1602PhefsTer3)
c.1005_1023dup (p.Ala342PhefsTer3)
c.4800_4818dup (p.Ala1607PhefsTer3)
c.4782_4800dup (p.Ala1601PhefsTer3)
c.1137_1155dup (p.Ala386PhefsTer3)
c.4803_4821dup (p.Ala1608PhefsTer3)
c.4911_4929dup (p.Ala1644PhefsTer3)
n.11269_11287dup
n.11260_11278dup
 dbSNP gnomAD v2 gnomAD v4
10g.53806808T>ACA376516503PCDH15c.3853A>T
c.4994A>T (p.Asn1665Ile)
c.4805A>T (p.Asn1602Ile)
c.4802A>T (p.Asn1601Ile)
c.1022A>T (p.Asn341Ile)
c.4817A>T (p.Asn1606Ile)
c.4799A>T (p.Asn1600Ile)
c.1154A>T (p.Asn385Ile)
c.4820A>T (p.Asn1607Ile)
c.4928A>T (p.Asn1643Ile)
n.11286A>T
n.11277A>T
10g.53806808T>CCA207196208PCDH15c.3853A>G
c.4994A>G (p.Asn1665Ser)
c.4805A>G (p.Asn1602Ser)
c.4802A>G (p.Asn1601Ser)
c.1022A>G (p.Asn341Ser)
c.4817A>G (p.Asn1606Ser)
c.4799A>G (p.Asn1600Ser)
c.1154A>G (p.Asn385Ser)
c.4820A>G (p.Asn1607Ser)
c.4928A>G (p.Asn1643Ser)
n.11286A>G
n.11277A>G
 dbSNP gnomAD v4
10g.53806808T>GCA376516500PCDH15c.3853A>C
c.4994A>C (p.Asn1665Thr)
c.4805A>C (p.Asn1602Thr)
c.4802A>C (p.Asn1601Thr)
c.1022A>C (p.Asn341Thr)
c.4817A>C (p.Asn1606Thr)
c.4799A>C (p.Asn1600Thr)
c.1154A>C (p.Asn385Thr)
c.4820A>C (p.Asn1607Thr)
c.4928A>C (p.Asn1643Thr)
n.11286A>C
n.11277A>C
10g.53806808T=CA1910756279PCDH15c.3853A=
c.4994A= (p.Asn1665=)
c.4805A= (p.Asn1602=)
c.4802A= (p.Asn1601=)
c.1022A= (p.Asn341=)
c.4817A= (p.Asn1606=)
c.4799A= (p.Asn1600=)
c.1154A= (p.Asn385=)
c.4820A= (p.Asn1607=)
c.4928A= (p.Asn1643=)
n.11286A=
n.11277A=
10g.53806809T>ACA376516507PCDH15c.3852A>T
c.4993A>T (p.Asn1665Tyr)
c.4804A>T (p.Asn1602Tyr)
c.4801A>T (p.Asn1601Tyr)
c.1021A>T (p.Asn341Tyr)
c.4816A>T (p.Asn1606Tyr)
c.4798A>T (p.Asn1600Tyr)
c.1153A>T (p.Asn385Tyr)
c.4819A>T (p.Asn1607Tyr)
c.4927A>T (p.Asn1643Tyr)
n.11285A>T
n.11276A>T
10g.53806809T>CCA376516509PCDH15c.3852A>G
c.4993A>G (p.Asn1665Asp)
c.4804A>G (p.Asn1602Asp)
c.4801A>G (p.Asn1601Asp)
c.1021A>G (p.Asn341Asp)
c.4816A>G (p.Asn1606Asp)
c.4798A>G (p.Asn1600Asp)
c.1153A>G (p.Asn385Asp)
c.4819A>G (p.Asn1607Asp)
c.4927A>G (p.Asn1643Asp)
n.11285A>G
n.11276A>G
10g.53806809T>GCA376516511PCDH15c.3852A>C
c.4993A>C (p.Asn1665His)
c.4804A>C (p.Asn1602His)
c.4801A>C (p.Asn1601His)
c.1021A>C (p.Asn341His)
c.4816A>C (p.Asn1606His)
c.4798A>C (p.Asn1600His)
c.1153A>C (p.Asn385His)
c.4819A>C (p.Asn1607His)
c.4927A>C (p.Asn1643His)
n.11285A>C
n.11276A>C
 COSMIC
10g.53806810C>ACA376516515PCDH15c.3851G>T
c.4992G>T (p.Met1664Ile)
c.4803G>T (p.Met1601Ile)
c.4800G>T (p.Met1600Ile)
c.1020G>T (p.Met340Ile)
c.4815G>T (p.Met1605Ile)
c.4797G>T (p.Met1599Ile)
c.1152G>T (p.Met384Ile)
c.4818G>T (p.Met1606Ile)
c.4926G>T (p.Met1642Ile)
n.11284G>T
n.11275G>T
10g.53806810C=CA1910756283PCDH15c.3851G=
c.4992G= (p.Met1664=)
c.4803G= (p.Met1601=)
c.4800G= (p.Met1600=)
c.1020G= (p.Met340=)
c.4815G= (p.Met1605=)
c.4797G= (p.Met1599=)
c.1152G= (p.Met384=)
c.4818G= (p.Met1606=)
c.4926G= (p.Met1642=)
n.11284G=
n.11275G=
10g.53806810C>GCA376516516PCDH15c.3851G>C
c.4992G>C (p.Met1664Ile)
c.4803G>C (p.Met1601Ile)
c.4800G>C (p.Met1600Ile)
c.1020G>C (p.Met340Ile)
c.4815G>C (p.Met1605Ile)
c.4797G>C (p.Met1599Ile)
c.1152G>C (p.Met384Ile)
c.4818G>C (p.Met1606Ile)
c.4926G>C (p.Met1642Ile)
n.11284G>C
n.11275G>C
10g.53806810C>TCA376516518PCDH15c.3851G>A
c.4992G>A (p.Met1664Ile)
c.4803G>A (p.Met1601Ile)
c.4800G>A (p.Met1600Ile)
c.1020G>A (p.Met340Ile)
c.4815G>A (p.Met1605Ile)
c.4797G>A (p.Met1599Ile)
c.1152G>A (p.Met384Ile)
c.4818G>A (p.Met1606Ile)
c.4926G>A (p.Met1642Ile)
n.11284G>A
n.11275G>A
 dbSNP gnomAD v3 gnomAD v4
10g.53806811A>CCA376516523PCDH15c.3850T>G
c.4991T>G (p.Met1664Arg)
c.4802T>G (p.Met1601Arg)
c.4799T>G (p.Met1600Arg)
c.1019T>G (p.Met340Arg)
c.4814T>G (p.Met1605Arg)
c.4796T>G (p.Met1599Arg)
c.1151T>G (p.Met384Arg)
c.4817T>G (p.Met1606Arg)
c.4925T>G (p.Met1642Arg)
n.11283T>G
n.11274T>G
10g.53806811A>GCA376516530PCDH15c.3850T>C
c.4991T>C (p.Met1664Thr)
c.4802T>C (p.Met1601Thr)
c.4799T>C (p.Met1600Thr)
c.1019T>C (p.Met340Thr)
c.4814T>C (p.Met1605Thr)
c.4796T>C (p.Met1599Thr)
c.1151T>C (p.Met384Thr)
c.4817T>C (p.Met1606Thr)
c.4925T>C (p.Met1642Thr)
n.11283T>C
n.11274T>C
10g.53806811A>TCA376516532PCDH15c.3850T>A
c.4991T>A (p.Met1664Lys)
c.4802T>A (p.Met1601Lys)
c.4799T>A (p.Met1600Lys)
c.1019T>A (p.Met340Lys)
c.4814T>A (p.Met1605Lys)
c.4796T>A (p.Met1599Lys)
c.1151T>A (p.Met384Lys)
c.4817T>A (p.Met1606Lys)
c.4925T>A (p.Met1642Lys)
n.11283T>A
n.11274T>A
10g.53806811_53806812delinsATCA1910756288PCDH15c.3849_3850delinsAT
c.4990_4991delinsAT (p.Met1664=)
c.4801_4802delinsAT (p.Met1601=)
c.4798_4799delinsAT (p.Met1600=)
c.1018_1019delinsAT (p.Met340=)
c.4813_4814delinsAT (p.Met1605=)
c.4795_4796delinsAT (p.Met1599=)
c.1150_1151delinsAT (p.Met384=)
c.4816_4817delinsAT (p.Met1606=)
c.4924_4925delinsAT (p.Met1642=)
n.11282_11283delinsAT
n.11273_11274delinsAT
10g.53806811_53806814dupCA5504551PCDH15c.3847_3850dup
c.4988_4991dup (p.Met1664IlefsTer19)
c.4799_4802dup (p.Met1601IlefsTer19)
c.4796_4799dup (p.Met1600IlefsTer19)
c.1016_1019dup (p.Met340IlefsTer19)
c.4811_4814dup (p.Met1605IlefsTer19)
c.4793_4796dup (p.Met1599IlefsTer19)
c.1148_1151dup (p.Met384IlefsTer19)
c.4814_4817dup (p.Met1606IlefsTer19)
c.4922_4925dup (p.Met1642IlefsTer19)
n.11280_11283dup
n.11271_11274dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806812T>ACA376516534PCDH15c.3849A>T
c.4990A>T (p.Met1664Leu)
c.4801A>T (p.Met1601Leu)
c.4798A>T (p.Met1600Leu)
c.1018A>T (p.Met340Leu)
c.4813A>T (p.Met1605Leu)
c.4795A>T (p.Met1599Leu)
c.1150A>T (p.Met384Leu)
c.4816A>T (p.Met1606Leu)
c.4924A>T (p.Met1642Leu)
n.11282A>T
n.11273A>T
10g.53806812T>CCA5504553PCDH15c.3849A>G
c.4990A>G (p.Met1664Val)
c.4801A>G (p.Met1601Val)
c.4798A>G (p.Met1600Val)
c.1018A>G (p.Met340Val)
c.4813A>G (p.Met1605Val)
c.4795A>G (p.Met1599Val)
c.1150A>G (p.Met384Val)
c.4816A>G (p.Met1606Val)
c.4924A>G (p.Met1642Val)
n.11282A>G
n.11273A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806812T>GCA376516533PCDH15c.3849A>C
c.4990A>C (p.Met1664Leu)
c.4801A>C (p.Met1601Leu)
c.4798A>C (p.Met1600Leu)
c.1018A>C (p.Met340Leu)
c.4813A>C (p.Met1605Leu)
c.4795A>C (p.Met1599Leu)
c.1150A>C (p.Met384Leu)
c.4816A>C (p.Met1606Leu)
c.4924A>C (p.Met1642Leu)
n.11282A>C
n.11273A>C
10g.53806812T=CA1910756299PCDH15c.3849A=
c.4990A= (p.Met1664=)
c.4801A= (p.Met1601=)
c.4798A= (p.Met1600=)
c.1018A= (p.Met340=)
c.4813A= (p.Met1605=)
c.4795A= (p.Met1599=)
c.1150A= (p.Met384=)
c.4816A= (p.Met1606=)
c.4924A= (p.Met1642=)
n.11282A=
n.11273A=
10g.53806817dupCA5504552PCDH15c.3849dup
c.4990dup (p.Met1664AsnfsTer18)
c.4801dup (p.Met1601AsnfsTer18)
c.4798dup (p.Met1600AsnfsTer18)
c.1018dup (p.Met340AsnfsTer18)
c.4813dup (p.Met1605AsnfsTer18)
c.4795dup (p.Met1599AsnfsTer18)
c.1150dup (p.Met384AsnfsTer18)
c.4816dup (p.Met1606AsnfsTer18)
c.4924dup (p.Met1642AsnfsTer18)
n.11282dup
n.11273dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.53806817delCA1910756294PCDH15c.3849del
c.4990del (p.Met1664Ter)
c.4801del (p.Met1601Ter)
c.4798del (p.Met1600Ter)
c.1018del (p.Met340Ter)
c.4813del (p.Met1605Ter)
c.4795del (p.Met1599Ter)
c.1150del (p.Met384Ter)
c.4816del (p.Met1606Ter)
c.4924del (p.Met1642Ter)
n.11282del
n.11273del
 dbSNP
10g.53806813T>ACA376516536PCDH15c.3848A>T
c.4989A>T (p.Lys1663Asn)
c.4800A>T (p.Lys1600Asn)
c.4797A>T (p.Lys1599Asn)
c.1017A>T (p.Lys339Asn)
c.4812A>T (p.Lys1604Asn)
c.4794A>T (p.Lys1598Asn)
c.1149A>T (p.Lys383Asn)
c.4815A>T (p.Lys1605Asn)
c.4923A>T (p.Lys1641Asn)
n.11281A>T
n.11272A>T
10g.53806813T>CCA469545927PCDH15c.3848A>G
c.4989A>G (p.Lys1663=)
c.4800A>G (p.Lys1600=)
c.4797A>G (p.Lys1599=)
c.1017A>G (p.Lys339=)
c.4812A>G (p.Lys1604=)
c.4794A>G (p.Lys1598=)
c.1149A>G (p.Lys383=)
c.4815A>G (p.Lys1605=)
c.4923A>G (p.Lys1641=)
n.11281A>G
n.11272A>G
 gnomAD v4
10g.53806813T>GCA376516539PCDH15c.3848A>C
c.4989A>C (p.Lys1663Asn)
c.4800A>C (p.Lys1600Asn)
c.4797A>C (p.Lys1599Asn)
c.1017A>C (p.Lys339Asn)
c.4812A>C (p.Lys1604Asn)
c.4794A>C (p.Lys1598Asn)
c.1149A>C (p.Lys383Asn)
c.4815A>C (p.Lys1605Asn)
c.4923A>C (p.Lys1641Asn)
n.11281A>C
n.11272A>C

Number of alleles fetched