Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.53806604_53806613delinsAGGTTGTTCCCA1910755740PCDH15c.4048_4057delinsGGAACAACCT
c.5189_5198delinsGGAACAACCT (p.Trp1730=)
c.5000_5009delinsGGAACAACCT (p.Trp1667=)
c.4997_5006delinsGGAACAACCT (p.Trp1666=)
c.1217_1226delinsGGAACAACCT (p.Trp406=)
c.5012_5021delinsGGAACAACCT (p.Trp1671=)
c.4994_5003delinsGGAACAACCT (p.Trp1665=)
c.1349_1358delinsGGAACAACCT (p.Trp450=)
c.5015_5024delinsGGAACAACCT (p.Trp1672=)
c.5123_5132delinsGGAACAACCT (p.Trp1708=)
n.11481_11490delinsGGAACAACCT
n.11472_11481delinsGGAACAACCT
10g.53806606delCA2573106141PCDH15c.4056del
c.5197del (p.Leu1733SerfsTer5)
c.5008del (p.Leu1670SerfsTer5)
c.5005del (p.Leu1669SerfsTer5)
c.1225del (p.Leu409SerfsTer5)
c.5020del (p.Leu1674SerfsTer5)
c.5002del (p.Leu1668SerfsTer5)
c.1357del (p.Leu453SerfsTer5)
c.5023del (p.Leu1675SerfsTer5)
c.5131del (p.Leu1711SerfsTer5)
n.11489del
n.11480del
 gnomAD v4
10g.53806605_53806608delinsGGTTCA1910755745PCDH15c.4053_4056delinsAACC
c.5194_5197delinsAACC (p.Asn1732=)
c.5005_5008delinsAACC (p.Asn1669=)
c.5002_5005delinsAACC (p.Asn1668=)
c.1222_1225delinsAACC (p.Asn408=)
c.5017_5020delinsAACC (p.Asn1673=)
c.4999_5002delinsAACC (p.Asn1667=)
c.1354_1357delinsAACC (p.Asn452=)
c.5020_5023delinsAACC (p.Asn1674=)
c.5128_5131delinsAACC (p.Asn1710=)
n.11486_11489delinsAACC
n.11477_11480delinsAACC
10g.53806605_53806613delCA5504490PCDH15c.4048_4056del
c.5189_5197del (p.Trp1730_Leu1733delinsPhe)
c.5000_5008del (p.Trp1667_Leu1670delinsPhe)
c.4997_5005del (p.Trp1666_Leu1669delinsPhe)
c.1217_1225del (p.Trp406_Leu409delinsPhe)
c.5012_5020del (p.Trp1671_Leu1674delinsPhe)
c.4994_5002del (p.Trp1665_Leu1668delinsPhe)
c.1349_1357del (p.Trp450_Leu453delinsPhe)
c.5015_5023del (p.Trp1672_Leu1675delinsPhe)
c.5123_5131del (p.Trp1708_Leu1711delinsPhe)
n.11481_11489del
n.11472_11480del
 dbSNP ExAC gnomAD v2
10g.53806606G>ACA469545236PCDH15c.4055C>T
c.5196C>T (p.Asn1732=)
c.5007C>T (p.Asn1669=)
c.5004C>T (p.Asn1668=)
c.1224C>T (p.Asn408=)
c.5019C>T (p.Asn1673=)
c.5001C>T (p.Asn1667=)
c.1356C>T (p.Asn452=)
c.5022C>T (p.Asn1674=)
c.5130C>T (p.Asn1710=)
n.11488C>T
n.11479C>T
 dbSNP gnomAD v4
10g.53806606G>CCA376515724PCDH15c.4055C>G
c.5196C>G (p.Asn1732Lys)
c.5007C>G (p.Asn1669Lys)
c.5004C>G (p.Asn1668Lys)
c.1224C>G (p.Asn408Lys)
c.5019C>G (p.Asn1673Lys)
c.5001C>G (p.Asn1667Lys)
c.1356C>G (p.Asn452Lys)
c.5022C>G (p.Asn1674Lys)
c.5130C>G (p.Asn1710Lys)
n.11488C>G
n.11479C>G
10g.53806606G=CA1910755754PCDH15c.4055C=
c.5196C= (p.Asn1732=)
c.5007C= (p.Asn1669=)
c.5004C= (p.Asn1668=)
c.1224C= (p.Asn408=)
c.5019C= (p.Asn1673=)
c.5001C= (p.Asn1667=)
c.1356C= (p.Asn452=)
c.5022C= (p.Asn1674=)
c.5130C= (p.Asn1710=)
n.11488C=
n.11479C=
10g.53806606G>TCA376515725PCDH15c.4055C>A
c.5196C>A (p.Asn1732Lys)
c.5007C>A (p.Asn1669Lys)
c.5004C>A (p.Asn1668Lys)
c.1224C>A (p.Asn408Lys)
c.5019C>A (p.Asn1673Lys)
c.5001C>A (p.Asn1667Lys)
c.1356C>A (p.Asn452Lys)
c.5022C>A (p.Asn1674Lys)
c.5130C>A (p.Asn1710Lys)
n.11488C>A
n.11479C>A
 dbSNP
10g.53806609_53806611dupCA1910755752PCDH15c.4053_4055dup
c.5194_5196dup (p.Asn1732_Leu1733insAsn)
c.5005_5007dup (p.Asn1669_Leu1670insAsn)
c.5002_5004dup (p.Asn1668_Leu1669insAsn)
c.1222_1224dup (p.Asn408_Leu409insAsn)
c.5017_5019dup (p.Asn1673_Leu1674insAsn)
c.4999_5001dup (p.Asn1667_Leu1668insAsn)
c.1354_1356dup (p.Asn452_Leu453insAsn)
c.5020_5022dup (p.Asn1674_Leu1675insAsn)
c.5128_5130dup (p.Asn1710_Leu1711insAsn)
n.11486_11488dup
n.11477_11479dup
 dbSNP
10g.53806609_53806611delCA5504491PCDH15c.4053_4055del
c.5194_5196del (p.Asn1732del)
c.5005_5007del (p.Asn1669del)
c.5002_5004del (p.Asn1668del)
c.1222_1224del (p.Asn408del)
c.5017_5019del (p.Asn1673del)
c.4999_5001del (p.Asn1667del)
c.1354_1356del (p.Asn452del)
c.5020_5022del (p.Asn1674del)
c.5128_5130del (p.Asn1710del)
n.11486_11488del
n.11477_11479del
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806607T>ACA376515726PCDH15c.4054A>T
c.5195A>T (p.Asn1732Ile)
c.5006A>T (p.Asn1669Ile)
c.5003A>T (p.Asn1668Ile)
c.1223A>T (p.Asn408Ile)
c.5018A>T (p.Asn1673Ile)
c.5000A>T (p.Asn1667Ile)
c.1355A>T (p.Asn452Ile)
c.5021A>T (p.Asn1674Ile)
c.5129A>T (p.Asn1710Ile)
n.11487A>T
n.11478A>T
10g.53806607T>CCA5504493PCDH15c.4054A>G
c.5195A>G (p.Asn1732Ser)
c.5006A>G (p.Asn1669Ser)
c.5003A>G (p.Asn1668Ser)
c.1223A>G (p.Asn408Ser)
c.5018A>G (p.Asn1673Ser)
c.5000A>G (p.Asn1667Ser)
c.1355A>G (p.Asn452Ser)
c.5021A>G (p.Asn1674Ser)
c.5129A>G (p.Asn1710Ser)
n.11487A>G
n.11478A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806607T>GCA376515727PCDH15c.4054A>C
c.5195A>C (p.Asn1732Thr)
c.5006A>C (p.Asn1669Thr)
c.5003A>C (p.Asn1668Thr)
c.1223A>C (p.Asn408Thr)
c.5018A>C (p.Asn1673Thr)
c.5000A>C (p.Asn1667Thr)
c.1355A>C (p.Asn452Thr)
c.5021A>C (p.Asn1674Thr)
c.5129A>C (p.Asn1710Thr)
n.11487A>C
n.11478A>C
 gnomAD v4
10g.53806607T=CA1910755762PCDH15c.4054A=
c.5195A= (p.Asn1732=)
c.5006A= (p.Asn1669=)
c.5003A= (p.Asn1668=)
c.1223A= (p.Asn408=)
c.5018A= (p.Asn1673=)
c.5000A= (p.Asn1667=)
c.1355A= (p.Asn452=)
c.5021A= (p.Asn1674=)
c.5129A= (p.Asn1710=)
n.11487A=
n.11478A=
10g.53806608T>ACA376515728PCDH15c.4053A>T
c.5194A>T (p.Asn1732Tyr)
c.5005A>T (p.Asn1669Tyr)
c.5002A>T (p.Asn1668Tyr)
c.1222A>T (p.Asn408Tyr)
c.5017A>T (p.Asn1673Tyr)
c.4999A>T (p.Asn1667Tyr)
c.1354A>T (p.Asn452Tyr)
c.5020A>T (p.Asn1674Tyr)
c.5128A>T (p.Asn1710Tyr)
n.11486A>T
n.11477A>T
10g.53806608T>CCA376515731PCDH15c.4053A>G
c.5194A>G (p.Asn1732Asp)
c.5005A>G (p.Asn1669Asp)
c.5002A>G (p.Asn1668Asp)
c.1222A>G (p.Asn408Asp)
c.5017A>G (p.Asn1673Asp)
c.4999A>G (p.Asn1667Asp)
c.1354A>G (p.Asn452Asp)
c.5020A>G (p.Asn1674Asp)
c.5128A>G (p.Asn1710Asp)
n.11486A>G
n.11477A>G
10g.53806608T>GCA376515729PCDH15c.4053A>C
c.5194A>C (p.Asn1732His)
c.5005A>C (p.Asn1669His)
c.5002A>C (p.Asn1668His)
c.1222A>C (p.Asn408His)
c.5017A>C (p.Asn1673His)
c.4999A>C (p.Asn1667His)
c.1354A>C (p.Asn452His)
c.5020A>C (p.Asn1674His)
c.5128A>C (p.Asn1710His)
n.11486A>C
n.11477A>C
10g.53806609G>ACA469545237PCDH15c.4052C>T
c.5193C>T (p.Asn1731=)
c.5004C>T (p.Asn1668=)
c.5001C>T (p.Asn1667=)
c.1221C>T (p.Asn407=)
c.5016C>T (p.Asn1672=)
c.4998C>T (p.Asn1666=)
c.1353C>T (p.Asn451=)
c.5019C>T (p.Asn1673=)
c.5127C>T (p.Asn1709=)
n.11485C>T
n.11476C>T
10g.53806609G>CCA376515732PCDH15c.4052C>G
c.5193C>G (p.Asn1731Lys)
c.5004C>G (p.Asn1668Lys)
c.5001C>G (p.Asn1667Lys)
c.1221C>G (p.Asn407Lys)
c.5016C>G (p.Asn1672Lys)
c.4998C>G (p.Asn1666Lys)
c.1353C>G (p.Asn451Lys)
c.5019C>G (p.Asn1673Lys)
c.5127C>G (p.Asn1709Lys)
n.11485C>G
n.11476C>G
10g.53806609G>TCA376515733PCDH15c.4052C>A
c.5193C>A (p.Asn1731Lys)
c.5004C>A (p.Asn1668Lys)
c.5001C>A (p.Asn1667Lys)
c.1221C>A (p.Asn407Lys)
c.5016C>A (p.Asn1672Lys)
c.4998C>A (p.Asn1666Lys)
c.1353C>A (p.Asn451Lys)
c.5019C>A (p.Asn1673Lys)
c.5127C>A (p.Asn1709Lys)
n.11485C>A
n.11476C>A
10g.53806610T>ACA376515734PCDH15c.4051A>T
c.5192A>T (p.Asn1731Ile)
c.5003A>T (p.Asn1668Ile)
c.5000A>T (p.Asn1667Ile)
c.1220A>T (p.Asn407Ile)
c.5015A>T (p.Asn1672Ile)
c.4997A>T (p.Asn1666Ile)
c.1352A>T (p.Asn451Ile)
c.5018A>T (p.Asn1673Ile)
c.5126A>T (p.Asn1709Ile)
n.11484A>T
n.11475A>T
10g.53806610T>CCA376515735PCDH15c.4051A>G
c.5192A>G (p.Asn1731Ser)
c.5003A>G (p.Asn1668Ser)
c.5000A>G (p.Asn1667Ser)
c.1220A>G (p.Asn407Ser)
c.5015A>G (p.Asn1672Ser)
c.4997A>G (p.Asn1666Ser)
c.1352A>G (p.Asn451Ser)
c.5018A>G (p.Asn1673Ser)
c.5126A>G (p.Asn1709Ser)
n.11484A>G
n.11475A>G
 gnomAD v4
10g.53806610T>GCA376515736PCDH15c.4051A>C
c.5192A>C (p.Asn1731Thr)
c.5003A>C (p.Asn1668Thr)
c.5000A>C (p.Asn1667Thr)
c.1220A>C (p.Asn407Thr)
c.5015A>C (p.Asn1672Thr)
c.4997A>C (p.Asn1666Thr)
c.1352A>C (p.Asn451Thr)
c.5018A>C (p.Asn1673Thr)
c.5126A>C (p.Asn1709Thr)
n.11484A>C
n.11475A>C
10g.53806611T>ACA376515737PCDH15c.4050A>T
c.5191A>T (p.Asn1731Tyr)
c.5002A>T (p.Asn1668Tyr)
c.4999A>T (p.Asn1667Tyr)
c.1219A>T (p.Asn407Tyr)
c.5014A>T (p.Asn1672Tyr)
c.4996A>T (p.Asn1666Tyr)
c.1351A>T (p.Asn451Tyr)
c.5017A>T (p.Asn1673Tyr)
c.5125A>T (p.Asn1709Tyr)
n.11483A>T
n.11474A>T
10g.53806611T>CCA376515738PCDH15c.4050A>G
c.5191A>G (p.Asn1731Asp)
c.5002A>G (p.Asn1668Asp)
c.4999A>G (p.Asn1667Asp)
c.1219A>G (p.Asn407Asp)
c.5014A>G (p.Asn1672Asp)
c.4996A>G (p.Asn1666Asp)
c.1351A>G (p.Asn451Asp)
c.5017A>G (p.Asn1673Asp)
c.5125A>G (p.Asn1709Asp)
n.11483A>G
n.11474A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53806611T>GCA376515739PCDH15c.4050A>C
c.5191A>C (p.Asn1731His)
c.5002A>C (p.Asn1668His)
c.4999A>C (p.Asn1667His)
c.1219A>C (p.Asn407His)
c.5014A>C (p.Asn1672His)
c.4996A>C (p.Asn1666His)
c.1351A>C (p.Asn451His)
c.5017A>C (p.Asn1673His)
c.5125A>C (p.Asn1709His)
n.11483A>C
n.11474A>C
10g.53806611T=CA1910755771PCDH15c.4050A=
c.5191A= (p.Asn1731=)
c.5002A= (p.Asn1668=)
c.4999A= (p.Asn1667=)
c.1219A= (p.Asn407=)
c.5014A= (p.Asn1672=)
c.4996A= (p.Asn1666=)
c.1351A= (p.Asn451=)
c.5017A= (p.Asn1673=)
c.5125A= (p.Asn1709=)
n.11483A=
n.11474A=
10g.53806612C>ACA376515740PCDH15c.4049G>T
c.5190G>T (p.Trp1730Cys)
c.5001G>T (p.Trp1667Cys)
c.4998G>T (p.Trp1666Cys)
c.1218G>T (p.Trp406Cys)
c.5013G>T (p.Trp1671Cys)
c.4995G>T (p.Trp1665Cys)
c.1350G>T (p.Trp450Cys)
c.5016G>T (p.Trp1672Cys)
c.5124G>T (p.Trp1708Cys)
n.11482G>T
n.11473G>T
10g.53806612C>GCA376515741PCDH15c.4049G>C
c.5190G>C (p.Trp1730Cys)
c.5001G>C (p.Trp1667Cys)
c.4998G>C (p.Trp1666Cys)
c.1218G>C (p.Trp406Cys)
c.5013G>C (p.Trp1671Cys)
c.4995G>C (p.Trp1665Cys)
c.1350G>C (p.Trp450Cys)
c.5016G>C (p.Trp1672Cys)
c.5124G>C (p.Trp1708Cys)
n.11482G>C
n.11473G>C
10g.53806612C>TCA376515742PCDH15c.4049G>A
c.5190G>A (p.Trp1730Ter)
c.5001G>A (p.Trp1667Ter)
c.4998G>A (p.Trp1666Ter)
c.1218G>A (p.Trp406Ter)
c.5013G>A (p.Trp1671Ter)
c.4995G>A (p.Trp1665Ter)
c.1350G>A (p.Trp450Ter)
c.5016G>A (p.Trp1672Ter)
c.5124G>A (p.Trp1708Ter)
n.11482G>A
n.11473G>A
10g.53806613C>ACA376515744PCDH15c.4048G>T
c.5189G>T (p.Trp1730Leu)
c.5000G>T (p.Trp1667Leu)
c.4997G>T (p.Trp1666Leu)
c.1217G>T (p.Trp406Leu)
c.5012G>T (p.Trp1671Leu)
c.4994G>T (p.Trp1665Leu)
c.1349G>T (p.Trp450Leu)
c.5015G>T (p.Trp1672Leu)
c.5123G>T (p.Trp1708Leu)
n.11481G>T
n.11472G>T
10g.53806613C>GCA376515745PCDH15c.4048G>C
c.5189G>C (p.Trp1730Ser)
c.5000G>C (p.Trp1667Ser)
c.4997G>C (p.Trp1666Ser)
c.1217G>C (p.Trp406Ser)
c.5012G>C (p.Trp1671Ser)
c.4994G>C (p.Trp1665Ser)
c.1349G>C (p.Trp450Ser)
c.5015G>C (p.Trp1672Ser)
c.5123G>C (p.Trp1708Ser)
n.11481G>C
n.11472G>C
10g.53806613C>TCA376515743PCDH15c.4048G>A
c.5189G>A (p.Trp1730Ter)
c.5000G>A (p.Trp1667Ter)
c.4997G>A (p.Trp1666Ter)
c.1217G>A (p.Trp406Ter)
c.5012G>A (p.Trp1671Ter)
c.4994G>A (p.Trp1665Ter)
c.1349G>A (p.Trp450Ter)
c.5015G>A (p.Trp1672Ter)
c.5123G>A (p.Trp1708Ter)
n.11481G>A
n.11472G>A
10g.53806614A>CCA376515746PCDH15c.4047T>G
c.5188T>G (p.Trp1730Gly)
c.4999T>G (p.Trp1667Gly)
c.4996T>G (p.Trp1666Gly)
c.1216T>G (p.Trp406Gly)
c.5011T>G (p.Trp1671Gly)
c.4993T>G (p.Trp1665Gly)
c.1348T>G (p.Trp450Gly)
c.5014T>G (p.Trp1672Gly)
c.5122T>G (p.Trp1708Gly)
n.11480T>G
n.11471T>G
10g.53806614A>GCA376515747PCDH15c.4047T>C
c.5188T>C (p.Trp1730Arg)
c.4999T>C (p.Trp1667Arg)
c.4996T>C (p.Trp1666Arg)
c.1216T>C (p.Trp406Arg)
c.5011T>C (p.Trp1671Arg)
c.4993T>C (p.Trp1665Arg)
c.1348T>C (p.Trp450Arg)
c.5014T>C (p.Trp1672Arg)
c.5122T>C (p.Trp1708Arg)
n.11480T>C
n.11471T>C
 gnomAD v4
10g.53806614A>TCA376515748PCDH15c.4047T>A
c.5188T>A (p.Trp1730Arg)
c.4999T>A (p.Trp1667Arg)
c.4996T>A (p.Trp1666Arg)
c.1216T>A (p.Trp406Arg)
c.5011T>A (p.Trp1671Arg)
c.4993T>A (p.Trp1665Arg)
c.1348T>A (p.Trp450Arg)
c.5014T>A (p.Trp1672Arg)
c.5122T>A (p.Trp1708Arg)
n.11480T>A
n.11471T>A
10g.53806615G>ACA469545239PCDH15c.4046C>T
c.5187C>T (p.Pro1729=)
c.4998C>T (p.Pro1666=)
c.4995C>T (p.Pro1665=)
c.1215C>T (p.Pro405=)
c.5010C>T (p.Pro1670=)
c.4992C>T (p.Pro1664=)
c.1347C>T (p.Pro449=)
c.5013C>T (p.Pro1671=)
c.5121C>T (p.Pro1707=)
n.11479C>T
n.11470C>T
10g.53806615G>CCA469545240PCDH15c.4046C>G
c.5187C>G (p.Pro1729=)
c.4998C>G (p.Pro1666=)
c.4995C>G (p.Pro1665=)
c.1215C>G (p.Pro405=)
c.5010C>G (p.Pro1670=)
c.4992C>G (p.Pro1664=)
c.1347C>G (p.Pro449=)
c.5013C>G (p.Pro1671=)
c.5121C>G (p.Pro1707=)
n.11479C>G
n.11470C>G
10g.53806615G>TCA469545238PCDH15c.4046C>A
c.5187C>A (p.Pro1729=)
c.4998C>A (p.Pro1666=)
c.4995C>A (p.Pro1665=)
c.1215C>A (p.Pro405=)
c.5010C>A (p.Pro1670=)
c.4992C>A (p.Pro1664=)
c.1347C>A (p.Pro449=)
c.5013C>A (p.Pro1671=)
c.5121C>A (p.Pro1707=)
n.11479C>A
n.11470C>A
10g.53806618delCA2574549892PCDH15c.4046del
c.5187del (p.Trp1730GlyfsTer8)
c.4998del (p.Trp1667GlyfsTer8)
c.4995del (p.Trp1666GlyfsTer8)
c.1215del (p.Trp406GlyfsTer8)
c.5010del (p.Trp1671GlyfsTer8)
c.4992del (p.Trp1665GlyfsTer8)
c.1347del (p.Trp450GlyfsTer8)
c.5013del (p.Trp1672GlyfsTer8)
c.5121del (p.Trp1708GlyfsTer8)
n.11479del
n.11470del
10g.53806616G>ACA376515749PCDH15c.4045C>T
c.5186C>T (p.Pro1729Leu)
c.4997C>T (p.Pro1666Leu)
c.4994C>T (p.Pro1665Leu)
c.1214C>T (p.Pro405Leu)
c.5009C>T (p.Pro1670Leu)
c.4991C>T (p.Pro1664Leu)
c.1346C>T (p.Pro449Leu)
c.5012C>T (p.Pro1671Leu)
c.5120C>T (p.Pro1707Leu)
n.11478C>T
n.11469C>T
 dbSNP
10g.53806616G>CCA376515750PCDH15c.4045C>G
c.5186C>G (p.Pro1729Arg)
c.4997C>G (p.Pro1666Arg)
c.4994C>G (p.Pro1665Arg)
c.1214C>G (p.Pro405Arg)
c.5009C>G (p.Pro1670Arg)
c.4991C>G (p.Pro1664Arg)
c.1346C>G (p.Pro449Arg)
c.5012C>G (p.Pro1671Arg)
c.5120C>G (p.Pro1707Arg)
n.11478C>G
n.11469C>G
10g.53806616G=CA1910755775PCDH15c.4045C=
c.5186C= (p.Pro1729=)
c.4997C= (p.Pro1666=)
c.4994C= (p.Pro1665=)
c.1214C= (p.Pro405=)
c.5009C= (p.Pro1670=)
c.4991C= (p.Pro1664=)
c.1346C= (p.Pro449=)
c.5012C= (p.Pro1671=)
c.5120C= (p.Pro1707=)
n.11478C=
n.11469C=
10g.53806616G>TCA376515751PCDH15c.4045C>A
c.5186C>A (p.Pro1729His)
c.4997C>A (p.Pro1666His)
c.4994C>A (p.Pro1665His)
c.1214C>A (p.Pro405His)
c.5009C>A (p.Pro1670His)
c.4991C>A (p.Pro1664His)
c.1346C>A (p.Pro449His)
c.5012C>A (p.Pro1671His)
c.5120C>A (p.Pro1707His)
n.11478C>A
n.11469C>A
 COSMIC
10g.53806617G>ACA376515754PCDH15c.4044C>T
c.5185C>T (p.Pro1729Ser)
c.4996C>T (p.Pro1666Ser)
c.4993C>T (p.Pro1665Ser)
c.1213C>T (p.Pro405Ser)
c.5008C>T (p.Pro1670Ser)
c.4990C>T (p.Pro1664Ser)
c.1345C>T (p.Pro449Ser)
c.5011C>T (p.Pro1671Ser)
c.5119C>T (p.Pro1707Ser)
n.11477C>T
n.11468C>T
10g.53806617G>CCA376515752PCDH15c.4044C>G
c.5185C>G (p.Pro1729Ala)
c.4996C>G (p.Pro1666Ala)
c.4993C>G (p.Pro1665Ala)
c.1213C>G (p.Pro405Ala)
c.5008C>G (p.Pro1670Ala)
c.4990C>G (p.Pro1664Ala)
c.1345C>G (p.Pro449Ala)
c.5011C>G (p.Pro1671Ala)
c.5119C>G (p.Pro1707Ala)
n.11477C>G
n.11468C>G
10g.53806617G>TCA376515753PCDH15c.4044C>A
c.5185C>A (p.Pro1729Thr)
c.4996C>A (p.Pro1666Thr)
c.4993C>A (p.Pro1665Thr)
c.1213C>A (p.Pro405Thr)
c.5008C>A (p.Pro1670Thr)
c.4990C>A (p.Pro1664Thr)
c.1345C>A (p.Pro449Thr)
c.5011C>A (p.Pro1671Thr)
c.5119C>A (p.Pro1707Thr)
n.11477C>A
n.11468C>A
10g.53806618G>ACA469545822PCDH15c.4043C>T
c.5184C>T (p.Gly1728=)
c.4995C>T (p.Gly1665=)
c.4992C>T (p.Gly1664=)
c.1212C>T (p.Gly404=)
c.5007C>T (p.Gly1669=)
c.4989C>T (p.Gly1663=)
c.1344C>T (p.Gly448=)
c.5010C>T (p.Gly1670=)
c.5118C>T (p.Gly1706=)
n.11476C>T
n.11467C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53806618G>CCA469545820PCDH15c.4043C>G
c.5184C>G (p.Gly1728=)
c.4995C>G (p.Gly1665=)
c.4992C>G (p.Gly1664=)
c.1212C>G (p.Gly404=)
c.5007C>G (p.Gly1669=)
c.4989C>G (p.Gly1663=)
c.1344C>G (p.Gly448=)
c.5010C>G (p.Gly1670=)
c.5118C>G (p.Gly1706=)
n.11476C>G
n.11467C>G
10g.53806618G=CA1910755778PCDH15c.4043C=
c.5184C= (p.Gly1728=)
c.4995C= (p.Gly1665=)
c.4992C= (p.Gly1664=)
c.1212C= (p.Gly404=)
c.5007C= (p.Gly1669=)
c.4989C= (p.Gly1663=)
c.1344C= (p.Gly448=)
c.5010C= (p.Gly1670=)
c.5118C= (p.Gly1706=)
n.11476C=
n.11467C=
10g.53806618G>TCA469545821PCDH15c.4043C>A
c.5184C>A (p.Gly1728=)
c.4995C>A (p.Gly1665=)
c.4992C>A (p.Gly1664=)
c.1212C>A (p.Gly404=)
c.5007C>A (p.Gly1669=)
c.4989C>A (p.Gly1663=)
c.1344C>A (p.Gly448=)
c.5010C>A (p.Gly1670=)
c.5118C>A (p.Gly1706=)
n.11476C>A
n.11467C>A
 gnomAD v4
10g.53806619C>ACA376515755PCDH15c.4042G>T
c.5183G>T (p.Gly1728Val)
c.4994G>T (p.Gly1665Val)
c.4991G>T (p.Gly1664Val)
c.1211G>T (p.Gly404Val)
c.5006G>T (p.Gly1669Val)
c.4988G>T (p.Gly1663Val)
c.1343G>T (p.Gly448Val)
c.5009G>T (p.Gly1670Val)
c.5117G>T (p.Gly1706Val)
n.11475G>T
n.11466G>T
10g.53806619C=CA1910755784PCDH15c.4042G=
c.5183G= (p.Gly1728=)
c.4994G= (p.Gly1665=)
c.4991G= (p.Gly1664=)
c.1211G= (p.Gly404=)
c.5006G= (p.Gly1669=)
c.4988G= (p.Gly1663=)
c.1343G= (p.Gly448=)
c.5009G= (p.Gly1670=)
c.5117G= (p.Gly1706=)
n.11475G=
n.11466G=
10g.53806619C>GCA376515756PCDH15c.4042G>C
c.5183G>C (p.Gly1728Ala)
c.4994G>C (p.Gly1665Ala)
c.4991G>C (p.Gly1664Ala)
c.1211G>C (p.Gly404Ala)
c.5006G>C (p.Gly1669Ala)
c.4988G>C (p.Gly1663Ala)
c.1343G>C (p.Gly448Ala)
c.5009G>C (p.Gly1670Ala)
c.5117G>C (p.Gly1706Ala)
n.11475G>C
n.11466G>C
 COSMIC
10g.53806619C>TCA5504494PCDH15c.4042G>A
c.5183G>A (p.Gly1728Asp)
c.4994G>A (p.Gly1665Asp)
c.4991G>A (p.Gly1664Asp)
c.1211G>A (p.Gly404Asp)
c.5006G>A (p.Gly1669Asp)
c.4988G>A (p.Gly1663Asp)
c.1343G>A (p.Gly448Asp)
c.5009G>A (p.Gly1670Asp)
c.5117G>A (p.Gly1706Asp)
n.11475G>A
n.11466G>A
 dbSNP ExAC gnomAD v2
10g.53806620C>ACA376515757PCDH15c.4041G>T
c.5182G>T (p.Gly1728Cys)
c.4993G>T (p.Gly1665Cys)
c.4990G>T (p.Gly1664Cys)
c.1210G>T (p.Gly404Cys)
c.5005G>T (p.Gly1669Cys)
c.4987G>T (p.Gly1663Cys)
c.1342G>T (p.Gly448Cys)
c.5008G>T (p.Gly1670Cys)
c.5116G>T (p.Gly1706Cys)
n.11474G>T
n.11465G>T
 gnomAD v4
10g.53806620C=CA1910755788PCDH15c.4041G=
c.5182G= (p.Gly1728=)
c.4993G= (p.Gly1665=)
c.4990G= (p.Gly1664=)
c.1210G= (p.Gly404=)
c.5005G= (p.Gly1669=)
c.4987G= (p.Gly1663=)
c.1342G= (p.Gly448=)
c.5008G= (p.Gly1670=)
c.5116G= (p.Gly1706=)
n.11474G=
n.11465G=
10g.53806620C>GCA376515758PCDH15c.4041G>C
c.5182G>C (p.Gly1728Arg)
c.4993G>C (p.Gly1665Arg)
c.4990G>C (p.Gly1664Arg)
c.1210G>C (p.Gly404Arg)
c.5005G>C (p.Gly1669Arg)
c.4987G>C (p.Gly1663Arg)
c.1342G>C (p.Gly448Arg)
c.5008G>C (p.Gly1670Arg)
c.5116G>C (p.Gly1706Arg)
n.11474G>C
n.11465G>C
 gnomAD v4
10g.53806620C>TCA5504495PCDH15c.4041G>A
c.5182G>A (p.Gly1728Ser)
c.4993G>A (p.Gly1665Ser)
c.4990G>A (p.Gly1664Ser)
c.1210G>A (p.Gly404Ser)
c.5005G>A (p.Gly1669Ser)
c.4987G>A (p.Gly1663Ser)
c.1342G>A (p.Gly448Ser)
c.5008G>A (p.Gly1670Ser)
c.5116G>A (p.Gly1706Ser)
n.11474G>A
n.11465G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806621C>ACA376515759PCDH15c.4040G>T
c.5181G>T (p.Met1727Ile)
c.4992G>T (p.Met1664Ile)
c.4989G>T (p.Met1663Ile)
c.1209G>T (p.Met403Ile)
c.5004G>T (p.Met1668Ile)
c.4986G>T (p.Met1662Ile)
c.1341G>T (p.Met447Ile)
c.5007G>T (p.Met1669Ile)
c.5115G>T (p.Met1705Ile)
n.11473G>T
n.11464G>T
 dbSNP
10g.53806621C=CA1910755792PCDH15c.4040G=
c.5181G= (p.Met1727=)
c.4992G= (p.Met1664=)
c.4989G= (p.Met1663=)
c.1209G= (p.Met403=)
c.5004G= (p.Met1668=)
c.4986G= (p.Met1662=)
c.1341G= (p.Met447=)
c.5007G= (p.Met1669=)
c.5115G= (p.Met1705=)
n.11473G=
n.11464G=
10g.53806621C>GCA376515761PCDH15c.4040G>C
c.5181G>C (p.Met1727Ile)
c.4992G>C (p.Met1664Ile)
c.4989G>C (p.Met1663Ile)
c.1209G>C (p.Met403Ile)
c.5004G>C (p.Met1668Ile)
c.4986G>C (p.Met1662Ile)
c.1341G>C (p.Met447Ile)
c.5007G>C (p.Met1669Ile)
c.5115G>C (p.Met1705Ile)
n.11473G>C
n.11464G>C
10g.53806621C>TCA376515760PCDH15c.4040G>A
c.5181G>A (p.Met1727Ile)
c.4992G>A (p.Met1664Ile)
c.4989G>A (p.Met1663Ile)
c.1209G>A (p.Met403Ile)
c.5004G>A (p.Met1668Ile)
c.4986G>A (p.Met1662Ile)
c.1341G>A (p.Met447Ile)
c.5007G>A (p.Met1669Ile)
c.5115G>A (p.Met1705Ile)
n.11473G>A
n.11464G>A
 gnomAD v4
10g.53806622A=CA1910755797PCDH15c.4039T=
c.5180T= (p.Met1727=)
c.4991T= (p.Met1664=)
c.4988T= (p.Met1663=)
c.1208T= (p.Met403=)
c.5003T= (p.Met1668=)
c.4985T= (p.Met1662=)
c.1340T= (p.Met447=)
c.5006T= (p.Met1669=)
c.5114T= (p.Met1705=)
n.11472T=
n.11463T=
10g.53806622A>CCA376515762PCDH15c.4039T>G
c.5180T>G (p.Met1727Arg)
c.4991T>G (p.Met1664Arg)
c.4988T>G (p.Met1663Arg)
c.1208T>G (p.Met403Arg)
c.5003T>G (p.Met1668Arg)
c.4985T>G (p.Met1662Arg)
c.1340T>G (p.Met447Arg)
c.5006T>G (p.Met1669Arg)
c.5114T>G (p.Met1705Arg)
n.11472T>G
n.11463T>G
 dbSNP
10g.53806622A>GCA376515763PCDH15c.4039T>C
c.5180T>C (p.Met1727Thr)
c.4991T>C (p.Met1664Thr)
c.4988T>C (p.Met1663Thr)
c.1208T>C (p.Met403Thr)
c.5003T>C (p.Met1668Thr)
c.4985T>C (p.Met1662Thr)
c.1340T>C (p.Met447Thr)
c.5006T>C (p.Met1669Thr)
c.5114T>C (p.Met1705Thr)
n.11472T>C
n.11463T>C
10g.53806622A>TCA376515764PCDH15c.4039T>A
c.5180T>A (p.Met1727Lys)
c.4991T>A (p.Met1664Lys)
c.4988T>A (p.Met1663Lys)
c.1208T>A (p.Met403Lys)
c.5003T>A (p.Met1668Lys)
c.4985T>A (p.Met1662Lys)
c.1340T>A (p.Met447Lys)
c.5006T>A (p.Met1669Lys)
c.5114T>A (p.Met1705Lys)
n.11472T>A
n.11463T>A
10g.53806622_53806666delinsATCCAAAGCTCTTCATCATCAGACTGTGTGTGGTCACTATGAAATCA1910755800PCDH15c.3995_4039delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT
c.5136_5180delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1712=)
c.4947_4991delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1649=)
c.4944_4988delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1648=)
c.1164_1208delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu388=)
c.4959_5003delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1653=)
c.4941_4985delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1647=)
c.1296_1340delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu432=)
c.4962_5006delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1654=)
c.5070_5114delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT (p.Glu1690=)
n.11428_11472delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT
n.11419_11463delinsATTTCATAGTGACCACACACAGTCTGATGATGAAGAGCTTTGGAT
10g.53806623T>ACA376515765PCDH15c.4038A>T
c.5179A>T (p.Met1727Leu)
c.4990A>T (p.Met1664Leu)
c.4987A>T (p.Met1663Leu)
c.1207A>T (p.Met403Leu)
c.5002A>T (p.Met1668Leu)
c.4984A>T (p.Met1662Leu)
c.1339A>T (p.Met447Leu)
c.5005A>T (p.Met1669Leu)
c.5113A>T (p.Met1705Leu)
n.11471A>T
n.11462A>T
10g.53806623T>CCA376515766PCDH15c.4038A>G
c.5179A>G (p.Met1727Val)
c.4990A>G (p.Met1664Val)
c.4987A>G (p.Met1663Val)
c.1207A>G (p.Met403Val)
c.5002A>G (p.Met1668Val)
c.4984A>G (p.Met1662Val)
c.1339A>G (p.Met447Val)
c.5005A>G (p.Met1669Val)
c.5113A>G (p.Met1705Val)
n.11471A>G
n.11462A>G
 dbSNP gnomAD v2
10g.53806623T>GCA207195670PCDH15c.4038A>C
c.5179A>C (p.Met1727Leu)
c.4990A>C (p.Met1664Leu)
c.4987A>C (p.Met1663Leu)
c.1207A>C (p.Met403Leu)
c.5002A>C (p.Met1668Leu)
c.4984A>C (p.Met1662Leu)
c.1339A>C (p.Met447Leu)
c.5005A>C (p.Met1669Leu)
c.5113A>C (p.Met1705Leu)
n.11471A>C
n.11462A>C
 dbSNP gnomAD v3 gnomAD v4
10g.53806623T=CA1910755806PCDH15c.4038A=
c.5179A= (p.Met1727=)
c.4990A= (p.Met1664=)
c.4987A= (p.Met1663=)
c.1207A= (p.Met403=)
c.5002A= (p.Met1668=)
c.4984A= (p.Met1662=)
c.1339A= (p.Met447=)
c.5005A= (p.Met1669=)
c.5113A= (p.Met1705=)
n.11471A=
n.11462A=
10g.53806631_53806674delCA1910755805PCDH15c.3995_4038del
c.5136_5179del (p.Glu1712AspfsTer?)
c.4947_4990del (p.Glu1649AspfsTer?)
c.4944_4987del (p.Glu1648AspfsTer?)
c.1164_1207del (p.Glu388AspfsTer?)
c.4959_5002del (p.Glu1653AspfsTer?)
c.4941_4984del (p.Glu1647AspfsTer?)
c.1296_1339del (p.Glu432AspfsTer?)
c.4962_5005del (p.Glu1654AspfsTer?)
c.5070_5113del (p.Glu1690AspfsTer?)
n.11428_11471del
n.11419_11462del
 dbSNP
10g.53806624C>ACA207195673PCDH15c.4037G>T
c.5178G>T (p.Trp1726Cys)
c.4989G>T (p.Trp1663Cys)
c.4986G>T (p.Trp1662Cys)
c.1206G>T (p.Trp402Cys)
c.5001G>T (p.Trp1667Cys)
c.4983G>T (p.Trp1661Cys)
c.1338G>T (p.Trp446Cys)
c.5004G>T (p.Trp1668Cys)
c.5112G>T (p.Trp1704Cys)
n.11470G>T
n.11461G>T
 dbSNP
10g.53806624C=CA1910755808PCDH15c.4037G=
c.5178G= (p.Trp1726=)
c.4989G= (p.Trp1663=)
c.4986G= (p.Trp1662=)
c.1206G= (p.Trp402=)
c.5001G= (p.Trp1667=)
c.4983G= (p.Trp1661=)
c.1338G= (p.Trp446=)
c.5004G= (p.Trp1668=)
c.5112G= (p.Trp1704=)
n.11470G=
n.11461G=
10g.53806624C>GCA376515767PCDH15c.4037G>C
c.5178G>C (p.Trp1726Cys)
c.4989G>C (p.Trp1663Cys)
c.4986G>C (p.Trp1662Cys)
c.1206G>C (p.Trp402Cys)
c.5001G>C (p.Trp1667Cys)
c.4983G>C (p.Trp1661Cys)
c.1338G>C (p.Trp446Cys)
c.5004G>C (p.Trp1668Cys)
c.5112G>C (p.Trp1704Cys)
n.11470G>C
n.11461G>C
 gnomAD v4
10g.53806624C>TCA376515768PCDH15c.4037G>A
c.5178G>A (p.Trp1726Ter)
c.4989G>A (p.Trp1663Ter)
c.4986G>A (p.Trp1662Ter)
c.1206G>A (p.Trp402Ter)
c.5001G>A (p.Trp1667Ter)
c.4983G>A (p.Trp1661Ter)
c.1338G>A (p.Trp446Ter)
c.5004G>A (p.Trp1668Ter)
c.5112G>A (p.Trp1704Ter)
n.11470G>A
n.11461G>A
 gnomAD v4
10g.53806625C>ACA376515769PCDH15c.4036G>T
c.5177G>T (p.Trp1726Leu)
c.4988G>T (p.Trp1663Leu)
c.4985G>T (p.Trp1662Leu)
c.1205G>T (p.Trp402Leu)
c.5000G>T (p.Trp1667Leu)
c.4982G>T (p.Trp1661Leu)
c.1337G>T (p.Trp446Leu)
c.5003G>T (p.Trp1668Leu)
c.5111G>T (p.Trp1704Leu)
n.11469G>T
n.11460G>T
10g.53806625C>GCA376515770PCDH15c.4036G>C
c.5177G>C (p.Trp1726Ser)
c.4988G>C (p.Trp1663Ser)
c.4985G>C (p.Trp1662Ser)
c.1205G>C (p.Trp402Ser)
c.5000G>C (p.Trp1667Ser)
c.4982G>C (p.Trp1661Ser)
c.1337G>C (p.Trp446Ser)
c.5003G>C (p.Trp1668Ser)
c.5111G>C (p.Trp1704Ser)
n.11469G>C
n.11460G>C
 COSMIC
10g.53806625C>TCA376515771PCDH15c.4036G>A
c.5177G>A (p.Trp1726Ter)
c.4988G>A (p.Trp1663Ter)
c.4985G>A (p.Trp1662Ter)
c.1205G>A (p.Trp402Ter)
c.5000G>A (p.Trp1667Ter)
c.4982G>A (p.Trp1661Ter)
c.1337G>A (p.Trp446Ter)
c.5003G>A (p.Trp1668Ter)
c.5111G>A (p.Trp1704Ter)
n.11469G>A
n.11460G>A
 COSMIC
10g.53806626A>CCA376515772PCDH15c.4035T>G
c.5176T>G (p.Trp1726Gly)
c.4987T>G (p.Trp1663Gly)
c.4984T>G (p.Trp1662Gly)
c.1204T>G (p.Trp402Gly)
c.4999T>G (p.Trp1667Gly)
c.4981T>G (p.Trp1661Gly)
c.1336T>G (p.Trp446Gly)
c.5002T>G (p.Trp1668Gly)
c.5110T>G (p.Trp1704Gly)
n.11468T>G
n.11459T>G
10g.53806626A>GCA376515774PCDH15c.4035T>C
c.5176T>C (p.Trp1726Arg)
c.4987T>C (p.Trp1663Arg)
c.4984T>C (p.Trp1662Arg)
c.1204T>C (p.Trp402Arg)
c.4999T>C (p.Trp1667Arg)
c.4981T>C (p.Trp1661Arg)
c.1336T>C (p.Trp446Arg)
c.5002T>C (p.Trp1668Arg)
c.5110T>C (p.Trp1704Arg)
n.11468T>C
n.11459T>C
10g.53806626A>TCA376515773PCDH15c.4035T>A
c.5176T>A (p.Trp1726Arg)
c.4987T>A (p.Trp1663Arg)
c.4984T>A (p.Trp1662Arg)
c.1204T>A (p.Trp402Arg)
c.4999T>A (p.Trp1667Arg)
c.4981T>A (p.Trp1661Arg)
c.1336T>A (p.Trp446Arg)
c.5002T>A (p.Trp1668Arg)
c.5110T>A (p.Trp1704Arg)
n.11468T>A
n.11459T>A
10g.53806627A>CCA469545823PCDH15c.4034T>G
c.5175T>G (p.Leu1725=)
c.4986T>G (p.Leu1662=)
c.4983T>G (p.Leu1661=)
c.1203T>G (p.Leu401=)
c.4998T>G (p.Leu1666=)
c.4980T>G (p.Leu1660=)
c.1335T>G (p.Leu445=)
c.5001T>G (p.Leu1667=)
c.5109T>G (p.Leu1703=)
n.11467T>G
n.11458T>G
10g.53806627A>GCA469545824PCDH15c.4034T>C
c.5175T>C (p.Leu1725=)
c.4986T>C (p.Leu1662=)
c.4983T>C (p.Leu1661=)
c.1203T>C (p.Leu401=)
c.4998T>C (p.Leu1666=)
c.4980T>C (p.Leu1660=)
c.1335T>C (p.Leu445=)
c.5001T>C (p.Leu1667=)
c.5109T>C (p.Leu1703=)
n.11467T>C
n.11458T>C
10g.53806627A>TCA469545825PCDH15c.4034T>A
c.5175T>A (p.Leu1725=)
c.4986T>A (p.Leu1662=)
c.4983T>A (p.Leu1661=)
c.1203T>A (p.Leu401=)
c.4998T>A (p.Leu1666=)
c.4980T>A (p.Leu1660=)
c.1335T>A (p.Leu445=)
c.5001T>A (p.Leu1667=)
c.5109T>A (p.Leu1703=)
n.11467T>A
n.11458T>A
10g.53806628A>CCA376515775PCDH15c.4033T>G
c.5174T>G (p.Leu1725Arg)
c.4985T>G (p.Leu1662Arg)
c.4982T>G (p.Leu1661Arg)
c.1202T>G (p.Leu401Arg)
c.4997T>G (p.Leu1666Arg)
c.4979T>G (p.Leu1660Arg)
c.1334T>G (p.Leu445Arg)
c.5000T>G (p.Leu1667Arg)
c.5108T>G (p.Leu1703Arg)
n.11466T>G
n.11457T>G
10g.53806628A>GCA376515776PCDH15c.4033T>C
c.5174T>C (p.Leu1725Pro)
c.4985T>C (p.Leu1662Pro)
c.4982T>C (p.Leu1661Pro)
c.1202T>C (p.Leu401Pro)
c.4997T>C (p.Leu1666Pro)
c.4979T>C (p.Leu1660Pro)
c.1334T>C (p.Leu445Pro)
c.5000T>C (p.Leu1667Pro)
c.5108T>C (p.Leu1703Pro)
n.11466T>C
n.11457T>C
10g.53806628A>TCA376515777PCDH15c.4033T>A
c.5174T>A (p.Leu1725His)
c.4985T>A (p.Leu1662His)
c.4982T>A (p.Leu1661His)
c.1202T>A (p.Leu401His)
c.4997T>A (p.Leu1666His)
c.4979T>A (p.Leu1660His)
c.1334T>A (p.Leu445His)
c.5000T>A (p.Leu1667His)
c.5108T>A (p.Leu1703His)
n.11466T>A
n.11457T>A
10g.53806629G>ACA376515778PCDH15c.4032C>T
c.5173C>T (p.Leu1725Phe)
c.4984C>T (p.Leu1662Phe)
c.4981C>T (p.Leu1661Phe)
c.1201C>T (p.Leu401Phe)
c.4996C>T (p.Leu1666Phe)
c.4978C>T (p.Leu1660Phe)
c.1333C>T (p.Leu445Phe)
c.4999C>T (p.Leu1667Phe)
c.5107C>T (p.Leu1703Phe)
n.11465C>T
n.11456C>T
 gnomAD v4
10g.53806629G>CCA376515779PCDH15c.4032C>G
c.5173C>G (p.Leu1725Val)
c.4984C>G (p.Leu1662Val)
c.4981C>G (p.Leu1661Val)
c.1201C>G (p.Leu401Val)
c.4996C>G (p.Leu1666Val)
c.4978C>G (p.Leu1660Val)
c.1333C>G (p.Leu445Val)
c.4999C>G (p.Leu1667Val)
c.5107C>G (p.Leu1703Val)
n.11465C>G
n.11456C>G
10g.53806629G>TCA376515780PCDH15c.4032C>A
c.5173C>A (p.Leu1725Ile)
c.4984C>A (p.Leu1662Ile)
c.4981C>A (p.Leu1661Ile)
c.1201C>A (p.Leu401Ile)
c.4996C>A (p.Leu1666Ile)
c.4978C>A (p.Leu1660Ile)
c.1333C>A (p.Leu445Ile)
c.4999C>A (p.Leu1667Ile)
c.5107C>A (p.Leu1703Ile)
n.11465C>A
n.11456C>A
10g.53806630C>ACA376515781PCDH15c.4031G>T
c.5172G>T (p.Glu1724Asp)
c.4983G>T (p.Glu1661Asp)
c.4980G>T (p.Glu1660Asp)
c.1200G>T (p.Glu400Asp)
c.4995G>T (p.Glu1665Asp)
c.4977G>T (p.Glu1659Asp)
c.1332G>T (p.Glu444Asp)
c.4998G>T (p.Glu1666Asp)
c.5106G>T (p.Glu1702Asp)
n.11464G>T
n.11455G>T
10g.53806630C>GCA376515782PCDH15c.4031G>C
c.5172G>C (p.Glu1724Asp)
c.4983G>C (p.Glu1661Asp)
c.4980G>C (p.Glu1660Asp)
c.1200G>C (p.Glu400Asp)
c.4995G>C (p.Glu1665Asp)
c.4977G>C (p.Glu1659Asp)
c.1332G>C (p.Glu444Asp)
c.4998G>C (p.Glu1666Asp)
c.5106G>C (p.Glu1702Asp)
n.11464G>C
n.11455G>C
 gnomAD v4
10g.53806630C>TCA469545826PCDH15c.4031G>A
c.5172G>A (p.Glu1724=)
c.4983G>A (p.Glu1661=)
c.4980G>A (p.Glu1660=)
c.1200G>A (p.Glu400=)
c.4995G>A (p.Glu1665=)
c.4977G>A (p.Glu1659=)
c.1332G>A (p.Glu444=)
c.4998G>A (p.Glu1666=)
c.5106G>A (p.Glu1702=)
n.11464G>A
n.11455G>A
10g.53806631T>ACA376515783PCDH15c.4030A>T
c.5171A>T (p.Glu1724Val)
c.4982A>T (p.Glu1661Val)
c.4979A>T (p.Glu1660Val)
c.1199A>T (p.Glu400Val)
c.4994A>T (p.Glu1665Val)
c.4976A>T (p.Glu1659Val)
c.1331A>T (p.Glu444Val)
c.4997A>T (p.Glu1666Val)
c.5105A>T (p.Glu1702Val)
n.11463A>T
n.11454A>T
10g.53806631T>CCA376515784PCDH15c.4030A>G
c.5171A>G (p.Glu1724Gly)
c.4982A>G (p.Glu1661Gly)
c.4979A>G (p.Glu1660Gly)
c.1199A>G (p.Glu400Gly)
c.4994A>G (p.Glu1665Gly)
c.4976A>G (p.Glu1659Gly)
c.1331A>G (p.Glu444Gly)
c.4997A>G (p.Glu1666Gly)
c.5105A>G (p.Glu1702Gly)
n.11463A>G
n.11454A>G
 dbSNP
10g.53806631T>GCA376515785PCDH15c.4030A>C
c.5171A>C (p.Glu1724Ala)
c.4982A>C (p.Glu1661Ala)
c.4979A>C (p.Glu1660Ala)
c.1199A>C (p.Glu400Ala)
c.4994A>C (p.Glu1665Ala)
c.4976A>C (p.Glu1659Ala)
c.1331A>C (p.Glu444Ala)
c.4997A>C (p.Glu1666Ala)
c.5105A>C (p.Glu1702Ala)
n.11463A>C
n.11454A>C
 gnomAD v4
10g.53806631T=CA1910755814PCDH15c.4030A=
c.5171A= (p.Glu1724=)
c.4982A= (p.Glu1661=)
c.4979A= (p.Glu1660=)
c.1199A= (p.Glu400=)
c.4994A= (p.Glu1665=)
c.4976A= (p.Glu1659=)
c.1331A= (p.Glu444=)
c.4997A= (p.Glu1666=)
c.5105A= (p.Glu1702=)
n.11463A=
n.11454A=
10g.53806632C>ACA376515786PCDH15c.4029G>T
c.5170G>T (p.Glu1724Ter)
c.4981G>T (p.Glu1661Ter)
c.4978G>T (p.Glu1660Ter)
c.1198G>T (p.Glu400Ter)
c.4993G>T (p.Glu1665Ter)
c.4975G>T (p.Glu1659Ter)
c.1330G>T (p.Glu444Ter)
c.4996G>T (p.Glu1666Ter)
c.5104G>T (p.Glu1702Ter)
n.11462G>T
n.11453G>T
10g.53806632C>GCA376515787PCDH15c.4029G>C
c.5170G>C (p.Glu1724Gln)
c.4981G>C (p.Glu1661Gln)
c.4978G>C (p.Glu1660Gln)
c.1198G>C (p.Glu400Gln)
c.4993G>C (p.Glu1665Gln)
c.4975G>C (p.Glu1659Gln)
c.1330G>C (p.Glu444Gln)
c.4996G>C (p.Glu1666Gln)
c.5104G>C (p.Glu1702Gln)
n.11462G>C
n.11453G>C
10g.53806632C>TCA376515788PCDH15c.4029G>A
c.5170G>A (p.Glu1724Lys)
c.4981G>A (p.Glu1661Lys)
c.4978G>A (p.Glu1660Lys)
c.1198G>A (p.Glu400Lys)
c.4993G>A (p.Glu1665Lys)
c.4975G>A (p.Glu1659Lys)
c.1330G>A (p.Glu444Lys)
c.4996G>A (p.Glu1666Lys)
c.5104G>A (p.Glu1702Lys)
n.11462G>A
n.11453G>A
 gnomAD v4
10g.53806633T>ACA376515789PCDH15c.4028A>T
c.5169A>T (p.Glu1723Asp)
c.4980A>T (p.Glu1660Asp)
c.4977A>T (p.Glu1659Asp)
c.1197A>T (p.Glu399Asp)
c.4992A>T (p.Glu1664Asp)
c.4974A>T (p.Glu1658Asp)
c.1329A>T (p.Glu443Asp)
c.4995A>T (p.Glu1665Asp)
c.5103A>T (p.Glu1701Asp)
n.11461A>T
n.11452A>T
10g.53806633T>CCA469545827PCDH15c.4028A>G
c.5169A>G (p.Glu1723=)
c.4980A>G (p.Glu1660=)
c.4977A>G (p.Glu1659=)
c.1197A>G (p.Glu399=)
c.4992A>G (p.Glu1664=)
c.4974A>G (p.Glu1658=)
c.1329A>G (p.Glu443=)
c.4995A>G (p.Glu1665=)
c.5103A>G (p.Glu1701=)
n.11461A>G
n.11452A>G
10g.53806633T>GCA376515790PCDH15c.4028A>C
c.5169A>C (p.Glu1723Asp)
c.4980A>C (p.Glu1660Asp)
c.4977A>C (p.Glu1659Asp)
c.1197A>C (p.Glu399Asp)
c.4992A>C (p.Glu1664Asp)
c.4974A>C (p.Glu1658Asp)
c.1329A>C (p.Glu443Asp)
c.4995A>C (p.Glu1665Asp)
c.5103A>C (p.Glu1701Asp)
n.11461A>C
n.11452A>C
10g.53806633_53806636delinsTTCACA1910755815PCDH15c.4025_4028delinsTGAA
c.5166_5169delinsTGAA (p.Asp1722=)
c.4977_4980delinsTGAA (p.Asp1659=)
c.4974_4977delinsTGAA (p.Asp1658=)
c.1194_1197delinsTGAA (p.Asp398=)
c.4989_4992delinsTGAA (p.Asp1663=)
c.4971_4974delinsTGAA (p.Asp1657=)
c.1326_1329delinsTGAA (p.Asp442=)
c.4992_4995delinsTGAA (p.Asp1664=)
c.5100_5103delinsTGAA (p.Asp1700=)
n.11458_11461delinsTGAA
n.11449_11452delinsTGAA
10g.53806634_53806637delCA912970253PCDH15c.4025_4028del
c.5166_5169del (p.Asp1722GlufsTer15)
c.4977_4980del (p.Asp1659GlufsTer15)
c.4974_4977del (p.Asp1658GlufsTer15)
c.1194_1197del (p.Asp398GlufsTer15)
c.4989_4992del (p.Asp1663GlufsTer15)
c.4971_4974del (p.Asp1657GlufsTer15)
c.1326_1329del (p.Asp442GlufsTer15)
c.4992_4995del (p.Asp1664GlufsTer15)
c.5100_5103del (p.Asp1700GlufsTer15)
n.11458_11461del
n.11449_11452del
10g.53806634T>ACA376515791PCDH15c.4027A>T
c.5168A>T (p.Glu1723Val)
c.4979A>T (p.Glu1660Val)
c.4976A>T (p.Glu1659Val)
c.1196A>T (p.Glu399Val)
c.4991A>T (p.Glu1664Val)
c.4973A>T (p.Glu1658Val)
c.1328A>T (p.Glu443Val)
c.4994A>T (p.Glu1665Val)
c.5102A>T (p.Glu1701Val)
n.11460A>T
n.11451A>T
10g.53806634T>CCA376515792PCDH15c.4027A>G
c.5168A>G (p.Glu1723Gly)
c.4979A>G (p.Glu1660Gly)
c.4976A>G (p.Glu1659Gly)
c.1196A>G (p.Glu399Gly)
c.4991A>G (p.Glu1664Gly)
c.4973A>G (p.Glu1658Gly)
c.1328A>G (p.Glu443Gly)
c.4994A>G (p.Glu1665Gly)
c.5102A>G (p.Glu1701Gly)
n.11460A>G
n.11451A>G
10g.53806634T>GCA376515793PCDH15c.4027A>C
c.5168A>C (p.Glu1723Ala)
c.4979A>C (p.Glu1660Ala)
c.4976A>C (p.Glu1659Ala)
c.1196A>C (p.Glu399Ala)
c.4991A>C (p.Glu1664Ala)
c.4973A>C (p.Glu1658Ala)
c.1328A>C (p.Glu443Ala)
c.4994A>C (p.Glu1665Ala)
c.5102A>C (p.Glu1701Ala)
n.11460A>C
n.11451A>C
10g.53806640_53806642dupCA1910755824PCDH15c.4025_4027dup
c.5166_5168dup (p.Asp1722_Glu1723insAsp)
c.4977_4979dup (p.Asp1659_Glu1660insAsp)
c.4974_4976dup (p.Asp1658_Glu1659insAsp)
c.1194_1196dup (p.Asp398_Glu399insAsp)
c.4989_4991dup (p.Asp1663_Glu1664insAsp)
c.4971_4973dup (p.Asp1657_Glu1658insAsp)
c.1326_1328dup (p.Asp442_Glu443insAsp)
c.4992_4994dup (p.Asp1664_Glu1665insAsp)
c.5100_5102dup (p.Asp1700_Glu1701insAsp)
n.11458_11460dup
n.11449_11451dup
 dbSNP gnomAD v4
10g.53806640_53806642delCA658822066PCDH15c.4025_4027del
c.5166_5168del (p.Asp1722del)
c.4977_4979del (p.Asp1659del)
c.4974_4976del (p.Asp1658del)
c.1194_1196del (p.Asp398del)
c.4989_4991del (p.Asp1663del)
c.4971_4973del (p.Asp1657del)
c.1326_1328del (p.Asp442del)
c.4992_4994del (p.Asp1664del)
c.5100_5102del (p.Asp1700del)
n.11458_11460del
n.11449_11451del
 ClinVar dbSNP
10g.53806635C>ACA376515794PCDH15c.4026G>T
c.5167G>T (p.Glu1723Ter)
c.4978G>T (p.Glu1660Ter)
c.4975G>T (p.Glu1659Ter)
c.1195G>T (p.Glu399Ter)
c.4990G>T (p.Glu1664Ter)
c.4972G>T (p.Glu1658Ter)
c.1327G>T (p.Glu443Ter)
c.4993G>T (p.Glu1665Ter)
c.5101G>T (p.Glu1701Ter)
n.11459G>T
n.11450G>T
10g.53806635C=CA1910755828PCDH15c.4026G=
c.5167G= (p.Glu1723=)
c.4978G= (p.Glu1660=)
c.4975G= (p.Glu1659=)
c.1195G= (p.Glu399=)
c.4990G= (p.Glu1664=)
c.4972G= (p.Glu1658=)
c.1327G= (p.Glu443=)
c.4993G= (p.Glu1665=)
c.5101G= (p.Glu1701=)
n.11459G=
n.11450G=
10g.53806635C>GCA376515795PCDH15c.4026G>C
c.5167G>C (p.Glu1723Gln)
c.4978G>C (p.Glu1660Gln)
c.4975G>C (p.Glu1659Gln)
c.1195G>C (p.Glu399Gln)
c.4990G>C (p.Glu1664Gln)
c.4972G>C (p.Glu1658Gln)
c.1327G>C (p.Glu443Gln)
c.4993G>C (p.Glu1665Gln)
c.5101G>C (p.Glu1701Gln)
n.11459G>C
n.11450G>C
10g.53806635C>TCA376515796PCDH15c.4026G>A
c.5167G>A (p.Glu1723Lys)
c.4978G>A (p.Glu1660Lys)
c.4975G>A (p.Glu1659Lys)
c.1195G>A (p.Glu399Lys)
c.4990G>A (p.Glu1664Lys)
c.4972G>A (p.Glu1658Lys)
c.1327G>A (p.Glu443Lys)
c.4993G>A (p.Glu1665Lys)
c.5101G>A (p.Glu1701Lys)
n.11459G>A
n.11450G>A
10g.53806636A>CCA376515797PCDH15c.4025T>G
c.5166T>G (p.Asp1722Glu)
c.4977T>G (p.Asp1659Glu)
c.4974T>G (p.Asp1658Glu)
c.1194T>G (p.Asp398Glu)
c.4989T>G (p.Asp1663Glu)
c.4971T>G (p.Asp1657Glu)
c.1326T>G (p.Asp442Glu)
c.4992T>G (p.Asp1664Glu)
c.5100T>G (p.Asp1700Glu)
n.11458T>G
n.11449T>G
10g.53806636A>GCA469545828PCDH15c.4025T>C
c.5166T>C (p.Asp1722=)
c.4977T>C (p.Asp1659=)
c.4974T>C (p.Asp1658=)
c.1194T>C (p.Asp398=)
c.4989T>C (p.Asp1663=)
c.4971T>C (p.Asp1657=)
c.1326T>C (p.Asp442=)
c.4992T>C (p.Asp1664=)
c.5100T>C (p.Asp1700=)
n.11458T>C
n.11449T>C
10g.53806636A>TCA376515798PCDH15c.4025T>A
c.5166T>A (p.Asp1722Glu)
c.4977T>A (p.Asp1659Glu)
c.4974T>A (p.Asp1658Glu)
c.1194T>A (p.Asp398Glu)
c.4989T>A (p.Asp1663Glu)
c.4971T>A (p.Asp1657Glu)
c.1326T>A (p.Asp442Glu)
c.4992T>A (p.Asp1664Glu)
c.5100T>A (p.Asp1700Glu)
n.11458T>A
n.11449T>A
10g.53806636_53806639dupCA5504496PCDH15c.4022_4025dup
c.5163_5166dup (p.Glu1723Ter)
c.4974_4977dup (p.Glu1660Ter)
c.4971_4974dup (p.Glu1659Ter)
c.1191_1194dup (p.Glu399Ter)
c.4986_4989dup (p.Glu1664Ter)
c.4968_4971dup (p.Glu1658Ter)
c.1323_1326dup (p.Glu443Ter)
c.4989_4992dup (p.Glu1665Ter)
c.5097_5100dup (p.Glu1701Ter)
n.11455_11458dup
n.11446_11449dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806637T>ACA376515799PCDH15c.4024A>T
c.5165A>T (p.Asp1722Val)
c.4976A>T (p.Asp1659Val)
c.4973A>T (p.Asp1658Val)
c.1193A>T (p.Asp398Val)
c.4988A>T (p.Asp1663Val)
c.4970A>T (p.Asp1657Val)
c.1325A>T (p.Asp442Val)
c.4991A>T (p.Asp1664Val)
c.5099A>T (p.Asp1700Val)
n.11457A>T
n.11448A>T
10g.53806637T>CCA376515800PCDH15c.4024A>G
c.5165A>G (p.Asp1722Gly)
c.4976A>G (p.Asp1659Gly)
c.4973A>G (p.Asp1658Gly)
c.1193A>G (p.Asp398Gly)
c.4988A>G (p.Asp1663Gly)
c.4970A>G (p.Asp1657Gly)
c.1325A>G (p.Asp442Gly)
c.4991A>G (p.Asp1664Gly)
c.5099A>G (p.Asp1700Gly)
n.11457A>G
n.11448A>G
10g.53806637T>GCA376515801PCDH15c.4024A>C
c.5165A>C (p.Asp1722Ala)
c.4976A>C (p.Asp1659Ala)
c.4973A>C (p.Asp1658Ala)
c.1193A>C (p.Asp398Ala)
c.4988A>C (p.Asp1663Ala)
c.4970A>C (p.Asp1657Ala)
c.1325A>C (p.Asp442Ala)
c.4991A>C (p.Asp1664Ala)
c.5099A>C (p.Asp1700Ala)
n.11457A>C
n.11448A>C
 gnomAD v4
10g.53806638C>ACA376515802PCDH15c.4023G>T
c.5164G>T (p.Asp1722Tyr)
c.4975G>T (p.Asp1659Tyr)
c.4972G>T (p.Asp1658Tyr)
c.1192G>T (p.Asp398Tyr)
c.4987G>T (p.Asp1663Tyr)
c.4969G>T (p.Asp1657Tyr)
c.1324G>T (p.Asp442Tyr)
c.4990G>T (p.Asp1664Tyr)
c.5098G>T (p.Asp1700Tyr)
n.11456G>T
n.11447G>T
10g.53806638C=CA1910755832PCDH15c.4023G=
c.5164G= (p.Asp1722=)
c.4975G= (p.Asp1659=)
c.4972G= (p.Asp1658=)
c.1192G= (p.Asp398=)
c.4987G= (p.Asp1663=)
c.4969G= (p.Asp1657=)
c.1324G= (p.Asp442=)
c.4990G= (p.Asp1664=)
c.5098G= (p.Asp1700=)
n.11456G=
n.11447G=
10g.53806638C>GCA376515803PCDH15c.4023G>C
c.5164G>C (p.Asp1722His)
c.4975G>C (p.Asp1659His)
c.4972G>C (p.Asp1658His)
c.1192G>C (p.Asp398His)
c.4987G>C (p.Asp1663His)
c.4969G>C (p.Asp1657His)
c.1324G>C (p.Asp442His)
c.4990G>C (p.Asp1664His)
c.5098G>C (p.Asp1700His)
n.11456G>C
n.11447G>C
10g.53806638C>TCA5504497PCDH15c.4023G>A
c.5164G>A (p.Asp1722Asn)
c.4975G>A (p.Asp1659Asn)
c.4972G>A (p.Asp1658Asn)
c.1192G>A (p.Asp398Asn)
c.4987G>A (p.Asp1663Asn)
c.4969G>A (p.Asp1657Asn)
c.1324G>A (p.Asp442Asn)
c.4990G>A (p.Asp1664Asn)
c.5098G>A (p.Asp1700Asn)
n.11456G>A
n.11447G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806639A>CCA376515804PCDH15c.4022T>G
c.5163T>G (p.Asp1721Glu)
c.4974T>G (p.Asp1658Glu)
c.4971T>G (p.Asp1657Glu)
c.1191T>G (p.Asp397Glu)
c.4986T>G (p.Asp1662Glu)
c.4968T>G (p.Asp1656Glu)
c.1323T>G (p.Asp441Glu)
c.4989T>G (p.Asp1663Glu)
c.5097T>G (p.Asp1699Glu)
n.11455T>G
n.11446T>G
10g.53806639A>GCA469545829PCDH15c.4022T>C
c.5163T>C (p.Asp1721=)
c.4974T>C (p.Asp1658=)
c.4971T>C (p.Asp1657=)
c.1191T>C (p.Asp397=)
c.4986T>C (p.Asp1662=)
c.4968T>C (p.Asp1656=)
c.1323T>C (p.Asp441=)
c.4989T>C (p.Asp1663=)
c.5097T>C (p.Asp1699=)
n.11455T>C
n.11446T>C
 gnomAD v4
10g.53806639A>TCA376515805PCDH15c.4022T>A
c.5163T>A (p.Asp1721Glu)
c.4974T>A (p.Asp1658Glu)
c.4971T>A (p.Asp1657Glu)
c.1191T>A (p.Asp397Glu)
c.4986T>A (p.Asp1662Glu)
c.4968T>A (p.Asp1656Glu)
c.1323T>A (p.Asp441Glu)
c.4989T>A (p.Asp1663Glu)
c.5097T>A (p.Asp1699Glu)
n.11455T>A
n.11446T>A
 gnomAD v4
10g.53806639_53806642dupCA2574549895PCDH15c.4019_4022dup
c.5160_5163dup (p.Asp1722Ter)
c.4971_4974dup (p.Asp1659Ter)
c.4968_4971dup (p.Asp1658Ter)
c.1188_1191dup (p.Asp398Ter)
c.4983_4986dup (p.Asp1663Ter)
c.4965_4968dup (p.Asp1657Ter)
c.1320_1323dup (p.Asp442Ter)
c.4986_4989dup (p.Asp1664Ter)
c.5094_5097dup (p.Asp1700Ter)
n.11452_11455dup
n.11443_11446dup
 gnomAD v4
10g.53806640T>ACA376515806PCDH15c.4021A>T
c.5162A>T (p.Asp1721Val)
c.4973A>T (p.Asp1658Val)
c.4970A>T (p.Asp1657Val)
c.1190A>T (p.Asp397Val)
c.4985A>T (p.Asp1662Val)
c.4967A>T (p.Asp1656Val)
c.1322A>T (p.Asp441Val)
c.4988A>T (p.Asp1663Val)
c.5096A>T (p.Asp1699Val)
n.11454A>T
n.11445A>T
10g.53806640T>CCA376515808PCDH15c.4021A>G
c.5162A>G (p.Asp1721Gly)
c.4973A>G (p.Asp1658Gly)
c.4970A>G (p.Asp1657Gly)
c.1190A>G (p.Asp397Gly)
c.4985A>G (p.Asp1662Gly)
c.4967A>G (p.Asp1656Gly)
c.1322A>G (p.Asp441Gly)
c.4988A>G (p.Asp1663Gly)
c.5096A>G (p.Asp1699Gly)
n.11454A>G
n.11445A>G
 COSMIC
10g.53806640T>GCA376515807PCDH15c.4021A>C
c.5162A>C (p.Asp1721Ala)
c.4973A>C (p.Asp1658Ala)
c.4970A>C (p.Asp1657Ala)
c.1190A>C (p.Asp397Ala)
c.4985A>C (p.Asp1662Ala)
c.4967A>C (p.Asp1656Ala)
c.1322A>C (p.Asp441Ala)
c.4988A>C (p.Asp1663Ala)
c.5096A>C (p.Asp1699Ala)
n.11454A>C
n.11445A>C
10g.53806641C>ACA376515809PCDH15c.4020G>T
c.5161G>T (p.Asp1721Tyr)
c.4972G>T (p.Asp1658Tyr)
c.4969G>T (p.Asp1657Tyr)
c.1189G>T (p.Asp397Tyr)
c.4984G>T (p.Asp1662Tyr)
c.4966G>T (p.Asp1656Tyr)
c.1321G>T (p.Asp441Tyr)
c.4987G>T (p.Asp1663Tyr)
c.5095G>T (p.Asp1699Tyr)
n.11453G>T
n.11444G>T
10g.53806641C>GCA376515811PCDH15c.4020G>C
c.5161G>C (p.Asp1721His)
c.4972G>C (p.Asp1658His)
c.4969G>C (p.Asp1657His)
c.1189G>C (p.Asp397His)
c.4984G>C (p.Asp1662His)
c.4966G>C (p.Asp1656His)
c.1321G>C (p.Asp441His)
c.4987G>C (p.Asp1663His)
c.5095G>C (p.Asp1699His)
n.11453G>C
n.11444G>C
 gnomAD v4
10g.53806641C>TCA376515810PCDH15c.4020G>A
c.5161G>A (p.Asp1721Asn)
c.4972G>A (p.Asp1658Asn)
c.4969G>A (p.Asp1657Asn)
c.1189G>A (p.Asp397Asn)
c.4984G>A (p.Asp1662Asn)
c.4966G>A (p.Asp1656Asn)
c.1321G>A (p.Asp441Asn)
c.4987G>A (p.Asp1663Asn)
c.5095G>A (p.Asp1699Asn)
n.11453G>A
n.11444G>A
 gnomAD v4
10g.53806642A>CCA469545830PCDH15c.4019T>G
c.5160T>G (p.Ser1720=)
c.4971T>G (p.Ser1657=)
c.4968T>G (p.Ser1656=)
c.1188T>G (p.Ser396=)
c.4983T>G (p.Ser1661=)
c.4965T>G (p.Ser1655=)
c.1320T>G (p.Ser440=)
c.4986T>G (p.Ser1662=)
c.5094T>G (p.Ser1698=)
n.11452T>G
n.11443T>G
10g.53806642A>GCA469545831PCDH15c.4019T>C
c.5160T>C (p.Ser1720=)
c.4971T>C (p.Ser1657=)
c.4968T>C (p.Ser1656=)
c.1188T>C (p.Ser396=)
c.4983T>C (p.Ser1661=)
c.4965T>C (p.Ser1655=)
c.1320T>C (p.Ser440=)
c.4986T>C (p.Ser1662=)
c.5094T>C (p.Ser1698=)
n.11452T>C
n.11443T>C
10g.53806642A>TCA469545832PCDH15c.4019T>A
c.5160T>A (p.Ser1720=)
c.4971T>A (p.Ser1657=)
c.4968T>A (p.Ser1656=)
c.1188T>A (p.Ser396=)
c.4983T>A (p.Ser1661=)
c.4965T>A (p.Ser1655=)
c.1320T>A (p.Ser440=)
c.4986T>A (p.Ser1662=)
c.5094T>A (p.Ser1698=)
n.11452T>A
n.11443T>A
10g.53806643G>ACA376515812PCDH15c.4018C>T
c.5159C>T (p.Ser1720Phe)
c.4970C>T (p.Ser1657Phe)
c.4967C>T (p.Ser1656Phe)
c.1187C>T (p.Ser396Phe)
c.4982C>T (p.Ser1661Phe)
c.4964C>T (p.Ser1655Phe)
c.1319C>T (p.Ser440Phe)
c.4985C>T (p.Ser1662Phe)
c.5093C>T (p.Ser1698Phe)
n.11451C>T
n.11442C>T
10g.53806643G>CCA376515813PCDH15c.4018C>G
c.5159C>G (p.Ser1720Cys)
c.4970C>G (p.Ser1657Cys)
c.4967C>G (p.Ser1656Cys)
c.1187C>G (p.Ser396Cys)
c.4982C>G (p.Ser1661Cys)
c.4964C>G (p.Ser1655Cys)
c.1319C>G (p.Ser440Cys)
c.4985C>G (p.Ser1662Cys)
c.5093C>G (p.Ser1698Cys)
n.11451C>G
n.11442C>G
 dbSNP gnomAD v4
10g.53806643G=CA1910755835PCDH15c.4018C=
c.5159C= (p.Ser1720=)
c.4970C= (p.Ser1657=)
c.4967C= (p.Ser1656=)
c.1187C= (p.Ser396=)
c.4982C= (p.Ser1661=)
c.4964C= (p.Ser1655=)
c.1319C= (p.Ser440=)
c.4985C= (p.Ser1662=)
c.5093C= (p.Ser1698=)
n.11451C=
n.11442C=
10g.53806643G>TCA376515814PCDH15c.4018C>A
c.5159C>A (p.Ser1720Tyr)
c.4970C>A (p.Ser1657Tyr)
c.4967C>A (p.Ser1656Tyr)
c.1187C>A (p.Ser396Tyr)
c.4982C>A (p.Ser1661Tyr)
c.4964C>A (p.Ser1655Tyr)
c.1319C>A (p.Ser440Tyr)
c.4985C>A (p.Ser1662Tyr)
c.5093C>A (p.Ser1698Tyr)
n.11451C>A
n.11442C>A
10g.53806644_53806647dupCA2609218336PCDH15c.4015_4018dup
c.5156_5159dup (p.Asp1721ValfsTer2)
c.4967_4970dup (p.Asp1658ValfsTer2)
c.4964_4967dup (p.Asp1657ValfsTer2)
c.1184_1187dup (p.Asp397ValfsTer2)
c.4979_4982dup (p.Asp1662ValfsTer2)
c.4961_4964dup (p.Asp1656ValfsTer2)
c.1316_1319dup (p.Asp441ValfsTer2)
c.4982_4985dup (p.Asp1663ValfsTer2)
c.5090_5093dup (p.Asp1699ValfsTer2)
n.11448_11451dup
n.11439_11442dup
 gnomAD v4
10g.53806644A>CCA376515815PCDH15c.4017T>G
c.5158T>G (p.Ser1720Ala)
c.4969T>G (p.Ser1657Ala)
c.4966T>G (p.Ser1656Ala)
c.1186T>G (p.Ser396Ala)
c.4981T>G (p.Ser1661Ala)
c.4963T>G (p.Ser1655Ala)
c.1318T>G (p.Ser440Ala)
c.4984T>G (p.Ser1662Ala)
c.5092T>G (p.Ser1698Ala)
n.11450T>G
n.11441T>G
10g.53806644A>GCA376515816PCDH15c.4017T>C
c.5158T>C (p.Ser1720Pro)
c.4969T>C (p.Ser1657Pro)
c.4966T>C (p.Ser1656Pro)
c.1186T>C (p.Ser396Pro)
c.4981T>C (p.Ser1661Pro)
c.4963T>C (p.Ser1655Pro)
c.1318T>C (p.Ser440Pro)
c.4984T>C (p.Ser1662Pro)
c.5092T>C (p.Ser1698Pro)
n.11450T>C
n.11441T>C
10g.53806644A>TCA376515817PCDH15c.4017T>A
c.5158T>A (p.Ser1720Thr)
c.4969T>A (p.Ser1657Thr)
c.4966T>A (p.Ser1656Thr)
c.1186T>A (p.Ser396Thr)
c.4981T>A (p.Ser1661Thr)
c.4963T>A (p.Ser1655Thr)
c.1318T>A (p.Ser440Thr)
c.4984T>A (p.Ser1662Thr)
c.5092T>A (p.Ser1698Thr)
n.11450T>A
n.11441T>A
10g.53806645C>ACA376515818PCDH15c.4016G>T
c.5157G>T (p.Gln1719His)
c.4968G>T (p.Gln1656His)
c.4965G>T (p.Gln1655His)
c.1185G>T (p.Gln395His)
c.4980G>T (p.Gln1660His)
c.4962G>T (p.Gln1654His)
c.1317G>T (p.Gln439His)
c.4983G>T (p.Gln1661His)
c.5091G>T (p.Gln1697His)
n.11449G>T
n.11440G>T
 dbSNP
10g.53806645C=CA1910755837PCDH15c.4016G=
c.5157G= (p.Gln1719=)
c.4968G= (p.Gln1656=)
c.4965G= (p.Gln1655=)
c.1185G= (p.Gln395=)
c.4980G= (p.Gln1660=)
c.4962G= (p.Gln1654=)
c.1317G= (p.Gln439=)
c.4983G= (p.Gln1661=)
c.5091G= (p.Gln1697=)
n.11449G=
n.11440G=
10g.53806645C>GCA376515819PCDH15c.4016G>C
c.5157G>C (p.Gln1719His)
c.4968G>C (p.Gln1656His)
c.4965G>C (p.Gln1655His)
c.1185G>C (p.Gln395His)
c.4980G>C (p.Gln1660His)
c.4962G>C (p.Gln1654His)
c.1317G>C (p.Gln439His)
c.4983G>C (p.Gln1661His)
c.5091G>C (p.Gln1697His)
n.11449G>C
n.11440G>C
10g.53806645C>TCA5504498PCDH15c.4016G>A
c.5157G>A (p.Gln1719=)
c.4968G>A (p.Gln1656=)
c.4965G>A (p.Gln1655=)
c.1185G>A (p.Gln395=)
c.4980G>A (p.Gln1660=)
c.4962G>A (p.Gln1654=)
c.1317G>A (p.Gln439=)
c.4983G>A (p.Gln1661=)
c.5091G>A (p.Gln1697=)
n.11449G>A
n.11440G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806645_53806649delinsCTGTGCA1910755838PCDH15c.4012_4016delinsCACAG
c.5153_5157delinsCACAG (p.Thr1718=)
c.4964_4968delinsCACAG (p.Thr1655=)
c.4961_4965delinsCACAG (p.Thr1654=)
c.1181_1185delinsCACAG (p.Thr394=)
c.4976_4980delinsCACAG (p.Thr1659=)
c.4958_4962delinsCACAG (p.Thr1653=)
c.1313_1317delinsCACAG (p.Thr438=)
c.4979_4983delinsCACAG (p.Thr1660=)
c.5087_5091delinsCACAG (p.Thr1696=)
n.11445_11449delinsCACAG
n.11436_11440delinsCACAG
10g.53806646T>ACA376515820PCDH15c.4015A>T
c.5156A>T (p.Gln1719Leu)
c.4967A>T (p.Gln1656Leu)
c.4964A>T (p.Gln1655Leu)
c.1184A>T (p.Gln395Leu)
c.4979A>T (p.Gln1660Leu)
c.4961A>T (p.Gln1654Leu)
c.1316A>T (p.Gln439Leu)
c.4982A>T (p.Gln1661Leu)
c.5090A>T (p.Gln1697Leu)
n.11448A>T
n.11439A>T
 gnomAD v4
10g.53806646T>CCA376515821PCDH15c.4015A>G
c.5156A>G (p.Gln1719Arg)
c.4967A>G (p.Gln1656Arg)
c.4964A>G (p.Gln1655Arg)
c.1184A>G (p.Gln395Arg)
c.4979A>G (p.Gln1660Arg)
c.4961A>G (p.Gln1654Arg)
c.1316A>G (p.Gln439Arg)
c.4982A>G (p.Gln1661Arg)
c.5090A>G (p.Gln1697Arg)
n.11448A>G
n.11439A>G
10g.53806646T>GCA5504500PCDH15c.4015A>C
c.5156A>C (p.Gln1719Pro)
c.4967A>C (p.Gln1656Pro)
c.4964A>C (p.Gln1655Pro)
c.1184A>C (p.Gln395Pro)
c.4979A>C (p.Gln1660Pro)
c.4961A>C (p.Gln1654Pro)
c.1316A>C (p.Gln439Pro)
c.4982A>C (p.Gln1661Pro)
c.5090A>C (p.Gln1697Pro)
n.11448A>C
n.11439A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806646T=CA1910755848PCDH15c.4015A=
c.5156A= (p.Gln1719=)
c.4967A= (p.Gln1656=)
c.4964A= (p.Gln1655=)
c.1184A= (p.Gln395=)
c.4979A= (p.Gln1660=)
c.4961A= (p.Gln1654=)
c.1316A= (p.Gln439=)
c.4982A= (p.Gln1661=)
c.5090A= (p.Gln1697=)
n.11448A=
n.11439A=
10g.53806650_53806653dupCA666450795PCDH15c.4012_4015dup
c.5153_5156dup (p.Gln1719HisfsTer4)
c.4964_4967dup (p.Gln1656HisfsTer4)
c.4961_4964dup (p.Gln1655HisfsTer4)
c.1181_1184dup (p.Gln395HisfsTer4)
c.4976_4979dup (p.Gln1660HisfsTer4)
c.4958_4961dup (p.Gln1654HisfsTer4)
c.1313_1316dup (p.Gln439HisfsTer4)
c.4979_4982dup (p.Gln1661HisfsTer4)
c.5087_5090dup (p.Gln1697HisfsTer4)
n.11445_11448dup
n.11436_11439dup
 dbSNP gnomAD v3 gnomAD v4
10g.53806650_53806653delCA5504499PCDH15c.4012_4015del
c.5153_5156del (p.Thr1718SerfsTer19)
c.4964_4967del (p.Thr1655SerfsTer19)
c.4961_4964del (p.Thr1654SerfsTer19)
c.1181_1184del (p.Thr394SerfsTer19)
c.4976_4979del (p.Thr1659SerfsTer19)
c.4958_4961del (p.Thr1653SerfsTer19)
c.1313_1316del (p.Thr438SerfsTer19)
c.4979_4982del (p.Thr1660SerfsTer19)
c.5087_5090del (p.Thr1696SerfsTer19)
n.11445_11448del
n.11436_11439del
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806647G>ACA376515822PCDH15c.4014C>T
c.5155C>T (p.Gln1719Ter)
c.4966C>T (p.Gln1656Ter)
c.4963C>T (p.Gln1655Ter)
c.1183C>T (p.Gln395Ter)
c.4978C>T (p.Gln1660Ter)
c.4960C>T (p.Gln1654Ter)
c.1315C>T (p.Gln439Ter)
c.4981C>T (p.Gln1661Ter)
c.5089C>T (p.Gln1697Ter)
n.11447C>T
n.11438C>T
 dbSNP
10g.53806647G>CCA376515824PCDH15c.4014C>G
c.5155C>G (p.Gln1719Glu)
c.4966C>G (p.Gln1656Glu)
c.4963C>G (p.Gln1655Glu)
c.1183C>G (p.Gln395Glu)
c.4978C>G (p.Gln1660Glu)
c.4960C>G (p.Gln1654Glu)
c.1315C>G (p.Gln439Glu)
c.4981C>G (p.Gln1661Glu)
c.5089C>G (p.Gln1697Glu)
n.11447C>G
n.11438C>G
10g.53806647G=CA1910755854PCDH15c.4014C=
c.5155C= (p.Gln1719=)
c.4966C= (p.Gln1656=)
c.4963C= (p.Gln1655=)
c.1183C= (p.Gln395=)
c.4978C= (p.Gln1660=)
c.4960C= (p.Gln1654=)
c.1315C= (p.Gln439=)
c.4981C= (p.Gln1661=)
c.5089C= (p.Gln1697=)
n.11447C=
n.11438C=
10g.53806647G>TCA376515823PCDH15c.4014C>A
c.5155C>A (p.Gln1719Lys)
c.4966C>A (p.Gln1656Lys)
c.4963C>A (p.Gln1655Lys)
c.1183C>A (p.Gln395Lys)
c.4978C>A (p.Gln1660Lys)
c.4960C>A (p.Gln1654Lys)
c.1315C>A (p.Gln439Lys)
c.4981C>A (p.Gln1661Lys)
c.5089C>A (p.Gln1697Lys)
n.11447C>A
n.11438C>A
10g.53806648T>ACA469545833PCDH15c.4013A>T
c.5154A>T (p.Thr1718=)
c.4965A>T (p.Thr1655=)
c.4962A>T (p.Thr1654=)
c.1182A>T (p.Thr394=)
c.4977A>T (p.Thr1659=)
c.4959A>T (p.Thr1653=)
c.1314A>T (p.Thr438=)
c.4980A>T (p.Thr1660=)
c.5088A>T (p.Thr1696=)
n.11446A>T
n.11437A>T
10g.53806648T>CCA207195693PCDH15c.4013A>G
c.5154A>G (p.Thr1718=)
c.4965A>G (p.Thr1655=)
c.4962A>G (p.Thr1654=)
c.1182A>G (p.Thr394=)
c.4977A>G (p.Thr1659=)
c.4959A>G (p.Thr1653=)
c.1314A>G (p.Thr438=)
c.4980A>G (p.Thr1660=)
c.5088A>G (p.Thr1696=)
n.11446A>G
n.11437A>G
 dbSNP gnomAD v4
10g.53806648T>GCA469545834PCDH15c.4013A>C
c.5154A>C (p.Thr1718=)
c.4965A>C (p.Thr1655=)
c.4962A>C (p.Thr1654=)
c.1182A>C (p.Thr394=)
c.4977A>C (p.Thr1659=)
c.4959A>C (p.Thr1653=)
c.1314A>C (p.Thr438=)
c.4980A>C (p.Thr1660=)
c.5088A>C (p.Thr1696=)
n.11446A>C
n.11437A>C
10g.53806648T=CA1910755860PCDH15c.4013A=
c.5154A= (p.Thr1718=)
c.4965A= (p.Thr1655=)
c.4962A= (p.Thr1654=)
c.1182A= (p.Thr394=)
c.4977A= (p.Thr1659=)
c.4959A= (p.Thr1653=)
c.1314A= (p.Thr438=)
c.4980A= (p.Thr1660=)
c.5088A= (p.Thr1696=)
n.11446A=
n.11437A=
10g.53806649G>ACA376515825PCDH15c.4012C>T
c.5153C>T (p.Thr1718Ile)
c.4964C>T (p.Thr1655Ile)
c.4961C>T (p.Thr1654Ile)
c.1181C>T (p.Thr394Ile)
c.4976C>T (p.Thr1659Ile)
c.4958C>T (p.Thr1653Ile)
c.1313C>T (p.Thr438Ile)
c.4979C>T (p.Thr1660Ile)
c.5087C>T (p.Thr1696Ile)
n.11445C>T
n.11436C>T
 gnomAD v4
10g.53806649G>CCA376515826PCDH15c.4012C>G
c.5153C>G (p.Thr1718Arg)
c.4964C>G (p.Thr1655Arg)
c.4961C>G (p.Thr1654Arg)
c.1181C>G (p.Thr394Arg)
c.4976C>G (p.Thr1659Arg)
c.4958C>G (p.Thr1653Arg)
c.1313C>G (p.Thr438Arg)
c.4979C>G (p.Thr1660Arg)
c.5087C>G (p.Thr1696Arg)
n.11445C>G
n.11436C>G
10g.53806649G>TCA376515827PCDH15c.4012C>A
c.5153C>A (p.Thr1718Lys)
c.4964C>A (p.Thr1655Lys)
c.4961C>A (p.Thr1654Lys)
c.1181C>A (p.Thr394Lys)
c.4976C>A (p.Thr1659Lys)
c.4958C>A (p.Thr1653Lys)
c.1313C>A (p.Thr438Lys)
c.4979C>A (p.Thr1660Lys)
c.5087C>A (p.Thr1696Lys)
n.11445C>A
n.11436C>A
10g.53806650T>ACA376515828PCDH15c.4011A>T
c.5152A>T (p.Thr1718Ser)
c.4963A>T (p.Thr1655Ser)
c.4960A>T (p.Thr1654Ser)
c.1180A>T (p.Thr394Ser)
c.4975A>T (p.Thr1659Ser)
c.4957A>T (p.Thr1653Ser)
c.1312A>T (p.Thr438Ser)
c.4978A>T (p.Thr1660Ser)
c.5086A>T (p.Thr1696Ser)
n.11444A>T
n.11435A>T
10g.53806650T>CCA376515829PCDH15c.4011A>G
c.5152A>G (p.Thr1718Ala)
c.4963A>G (p.Thr1655Ala)
c.4960A>G (p.Thr1654Ala)
c.1180A>G (p.Thr394Ala)
c.4975A>G (p.Thr1659Ala)
c.4957A>G (p.Thr1653Ala)
c.1312A>G (p.Thr438Ala)
c.4978A>G (p.Thr1660Ala)
c.5086A>G (p.Thr1696Ala)
n.11444A>G
n.11435A>G
 dbSNP gnomAD v4
10g.53806650T>GCA376515830PCDH15c.4011A>C
c.5152A>C (p.Thr1718Pro)
c.4963A>C (p.Thr1655Pro)
c.4960A>C (p.Thr1654Pro)
c.1180A>C (p.Thr394Pro)
c.4975A>C (p.Thr1659Pro)
c.4957A>C (p.Thr1653Pro)
c.1312A>C (p.Thr438Pro)
c.4978A>C (p.Thr1660Pro)
c.5086A>C (p.Thr1696Pro)
n.11444A>C
n.11435A>C
 gnomAD v4
10g.53806650T=CA1910755861PCDH15c.4011A=
c.5152A= (p.Thr1718=)
c.4963A= (p.Thr1655=)
c.4960A= (p.Thr1654=)
c.1180A= (p.Thr394=)
c.4975A= (p.Thr1659=)
c.4957A= (p.Thr1653=)
c.1312A= (p.Thr438=)
c.4978A= (p.Thr1660=)
c.5086A= (p.Thr1696=)
n.11444A=
n.11435A=
10g.53806651G>ACA469545835PCDH15c.4010C>T
c.5151C>T (p.His1717=)
c.4962C>T (p.His1654=)
c.4959C>T (p.His1653=)
c.1179C>T (p.His393=)
c.4974C>T (p.His1658=)
c.4956C>T (p.His1652=)
c.1311C>T (p.His437=)
c.4977C>T (p.His1659=)
c.5085C>T (p.His1695=)
n.11443C>T
n.11434C>T
10g.53806651G>CCA376515831PCDH15c.4010C>G
c.5151C>G (p.His1717Gln)
c.4962C>G (p.His1654Gln)
c.4959C>G (p.His1653Gln)
c.1179C>G (p.His393Gln)
c.4974C>G (p.His1658Gln)
c.4956C>G (p.His1652Gln)
c.1311C>G (p.His437Gln)
c.4977C>G (p.His1659Gln)
c.5085C>G (p.His1695Gln)
n.11443C>G
n.11434C>G
10g.53806651G>TCA376515832PCDH15c.4010C>A
c.5151C>A (p.His1717Gln)
c.4962C>A (p.His1654Gln)
c.4959C>A (p.His1653Gln)
c.1179C>A (p.His393Gln)
c.4974C>A (p.His1658Gln)
c.4956C>A (p.His1652Gln)
c.1311C>A (p.His437Gln)
c.4977C>A (p.His1659Gln)
c.5085C>A (p.His1695Gln)
n.11443C>A
n.11434C>A
10g.53806652T>ACA376515835PCDH15c.4009A>T
c.5150A>T (p.His1717Leu)
c.4961A>T (p.His1654Leu)
c.4958A>T (p.His1653Leu)
c.1178A>T (p.His393Leu)
c.4973A>T (p.His1658Leu)
c.4955A>T (p.His1652Leu)
c.1310A>T (p.His437Leu)
c.4976A>T (p.His1659Leu)
c.5084A>T (p.His1695Leu)
n.11442A>T
n.11433A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53806652T>CCA376515837PCDH15c.4009A>G
c.5150A>G (p.His1717Arg)
c.4961A>G (p.His1654Arg)
c.4958A>G (p.His1653Arg)
c.1178A>G (p.His393Arg)
c.4973A>G (p.His1658Arg)
c.4955A>G (p.His1652Arg)
c.1310A>G (p.His437Arg)
c.4976A>G (p.His1659Arg)
c.5084A>G (p.His1695Arg)
n.11442A>G
n.11433A>G
10g.53806652T>GCA376515834PCDH15c.4009A>C
c.5150A>C (p.His1717Pro)
c.4961A>C (p.His1654Pro)
c.4958A>C (p.His1653Pro)
c.1178A>C (p.His393Pro)
c.4973A>C (p.His1658Pro)
c.4955A>C (p.His1652Pro)
c.1310A>C (p.His437Pro)
c.4976A>C (p.His1659Pro)
c.5084A>C (p.His1695Pro)
n.11442A>C
n.11433A>C
10g.53806652T=CA1910755863PCDH15c.4009A=
c.5150A= (p.His1717=)
c.4961A= (p.His1654=)
c.4958A= (p.His1653=)
c.1178A= (p.His393=)
c.4973A= (p.His1658=)
c.4955A= (p.His1652=)
c.1310A= (p.His437=)
c.4976A= (p.His1659=)
c.5084A= (p.His1695=)
n.11442A=
n.11433A=
10g.53806653G>ACA376515838PCDH15c.4008C>T
c.5149C>T (p.His1717Tyr)
c.4960C>T (p.His1654Tyr)
c.4957C>T (p.His1653Tyr)
c.1177C>T (p.His393Tyr)
c.4972C>T (p.His1658Tyr)
c.4954C>T (p.His1652Tyr)
c.1309C>T (p.His437Tyr)
c.4975C>T (p.His1659Tyr)
c.5083C>T (p.His1695Tyr)
n.11441C>T
n.11432C>T
 dbSNP gnomAD v3 gnomAD v4
10g.53806653G>CCA376515840PCDH15c.4008C>G
c.5149C>G (p.His1717Asp)
c.4960C>G (p.His1654Asp)
c.4957C>G (p.His1653Asp)
c.1177C>G (p.His393Asp)
c.4972C>G (p.His1658Asp)
c.4954C>G (p.His1652Asp)
c.1309C>G (p.His437Asp)
c.4975C>G (p.His1659Asp)
c.5083C>G (p.His1695Asp)
n.11441C>G
n.11432C>G
 gnomAD v4
10g.53806653G=CA1910755870PCDH15c.4008C=
c.5149C= (p.His1717=)
c.4960C= (p.His1654=)
c.4957C= (p.His1653=)
c.1177C= (p.His393=)
c.4972C= (p.His1658=)
c.4954C= (p.His1652=)
c.1309C= (p.His437=)
c.4975C= (p.His1659=)
c.5083C= (p.His1695=)
n.11441C=
n.11432C=
10g.53806653G>TCA376515841PCDH15c.4008C>A
c.5149C>A (p.His1717Asn)
c.4960C>A (p.His1654Asn)
c.4957C>A (p.His1653Asn)
c.1177C>A (p.His393Asn)
c.4972C>A (p.His1658Asn)
c.4954C>A (p.His1652Asn)
c.1309C>A (p.His437Asn)
c.4975C>A (p.His1659Asn)
c.5083C>A (p.His1695Asn)
n.11441C>A
n.11432C>A
 gnomAD v4
10g.53806654G>ACA469545836PCDH15c.4007C>T
c.5148C>T (p.Asp1716=)
c.4959C>T (p.Asp1653=)
c.4956C>T (p.Asp1652=)
c.1176C>T (p.Asp392=)
c.4971C>T (p.Asp1657=)
c.4953C>T (p.Asp1651=)
c.1308C>T (p.Asp436=)
c.4974C>T (p.Asp1658=)
c.5082C>T (p.Asp1694=)
n.11440C>T
n.11431C>T
 dbSNP
10g.53806654G>CCA376515843PCDH15c.4007C>G
c.5148C>G (p.Asp1716Glu)
c.4959C>G (p.Asp1653Glu)
c.4956C>G (p.Asp1652Glu)
c.1176C>G (p.Asp392Glu)
c.4971C>G (p.Asp1657Glu)
c.4953C>G (p.Asp1651Glu)
c.1308C>G (p.Asp436Glu)
c.4974C>G (p.Asp1658Glu)
c.5082C>G (p.Asp1694Glu)
n.11440C>G
n.11431C>G
 dbSNP gnomAD v3 gnomAD v4
10g.53806654G=CA1910755873PCDH15c.4007C=
c.5148C= (p.Asp1716=)
c.4959C= (p.Asp1653=)
c.4956C= (p.Asp1652=)
c.1176C= (p.Asp392=)
c.4971C= (p.Asp1657=)
c.4953C= (p.Asp1651=)
c.1308C= (p.Asp436=)
c.4974C= (p.Asp1658=)
c.5082C= (p.Asp1694=)
n.11440C=
n.11431C=
10g.53806654G>TCA376515844PCDH15c.4007C>A
c.5148C>A (p.Asp1716Glu)
c.4959C>A (p.Asp1653Glu)
c.4956C>A (p.Asp1652Glu)
c.1176C>A (p.Asp392Glu)
c.4971C>A (p.Asp1657Glu)
c.4953C>A (p.Asp1651Glu)
c.1308C>A (p.Asp436Glu)
c.4974C>A (p.Asp1658Glu)
c.5082C>A (p.Asp1694Glu)
n.11440C>A
n.11431C>A
10g.53806655T>ACA376515849PCDH15c.4006A>T
c.5147A>T (p.Asp1716Val)
c.4958A>T (p.Asp1653Val)
c.4955A>T (p.Asp1652Val)
c.1175A>T (p.Asp392Val)
c.4970A>T (p.Asp1657Val)
c.4952A>T (p.Asp1651Val)
c.1307A>T (p.Asp436Val)
c.4973A>T (p.Asp1658Val)
c.5081A>T (p.Asp1694Val)
n.11439A>T
n.11430A>T
 gnomAD v4
10g.53806655T>CCA376515846PCDH15c.4006A>G
c.5147A>G (p.Asp1716Gly)
c.4958A>G (p.Asp1653Gly)
c.4955A>G (p.Asp1652Gly)
c.1175A>G (p.Asp392Gly)
c.4970A>G (p.Asp1657Gly)
c.4952A>G (p.Asp1651Gly)
c.1307A>G (p.Asp436Gly)
c.4973A>G (p.Asp1658Gly)
c.5081A>G (p.Asp1694Gly)
n.11439A>G
n.11430A>G
10g.53806655T>GCA376515848PCDH15c.4006A>C
c.5147A>C (p.Asp1716Ala)
c.4958A>C (p.Asp1653Ala)
c.4955A>C (p.Asp1652Ala)
c.1175A>C (p.Asp392Ala)
c.4970A>C (p.Asp1657Ala)
c.4952A>C (p.Asp1651Ala)
c.1307A>C (p.Asp436Ala)
c.4973A>C (p.Asp1658Ala)
c.5081A>C (p.Asp1694Ala)
n.11439A>C
n.11430A>C
10g.53806656C>ACA376515850PCDH15c.4005G>T
c.5146G>T (p.Asp1716Tyr)
c.4957G>T (p.Asp1653Tyr)
c.4954G>T (p.Asp1652Tyr)
c.1174G>T (p.Asp392Tyr)
c.4969G>T (p.Asp1657Tyr)
c.4951G>T (p.Asp1651Tyr)
c.1306G>T (p.Asp436Tyr)
c.4972G>T (p.Asp1658Tyr)
c.5080G>T (p.Asp1694Tyr)
n.11438G>T
n.11429G>T
10g.53806656C>GCA376515851PCDH15c.4005G>C
c.5146G>C (p.Asp1716His)
c.4957G>C (p.Asp1653His)
c.4954G>C (p.Asp1652His)
c.1174G>C (p.Asp392His)
c.4969G>C (p.Asp1657His)
c.4951G>C (p.Asp1651His)
c.1306G>C (p.Asp436His)
c.4972G>C (p.Asp1658His)
c.5080G>C (p.Asp1694His)
n.11438G>C
n.11429G>C
10g.53806656C>TCA376515852PCDH15c.4005G>A
c.5146G>A (p.Asp1716Asn)
c.4957G>A (p.Asp1653Asn)
c.4954G>A (p.Asp1652Asn)
c.1174G>A (p.Asp392Asn)
c.4969G>A (p.Asp1657Asn)
c.4951G>A (p.Asp1651Asn)
c.1306G>A (p.Asp436Asn)
c.4972G>A (p.Asp1658Asn)
c.5080G>A (p.Asp1694Asn)
n.11438G>A
n.11429G>A
 gnomAD v4 COSMIC
10g.53806657A=CA1910755878PCDH15c.4004T=
c.5145T= (p.Ser1715=)
c.4956T= (p.Ser1652=)
c.4953T= (p.Ser1651=)
c.1173T= (p.Ser391=)
c.4968T= (p.Ser1656=)
c.4950T= (p.Ser1650=)
c.1305T= (p.Ser435=)
c.4971T= (p.Ser1657=)
c.5079T= (p.Ser1693=)
n.11437T=
n.11428T=
10g.53806657A>CCA5504501PCDH15c.4004T>G
c.5145T>G (p.Ser1715Arg)
c.4956T>G (p.Ser1652Arg)
c.4953T>G (p.Ser1651Arg)
c.1173T>G (p.Ser391Arg)
c.4968T>G (p.Ser1656Arg)
c.4950T>G (p.Ser1650Arg)
c.1305T>G (p.Ser435Arg)
c.4971T>G (p.Ser1657Arg)
c.5079T>G (p.Ser1693Arg)
n.11437T>G
n.11428T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806657A>GCA469545837PCDH15c.4004T>C
c.5145T>C (p.Ser1715=)
c.4956T>C (p.Ser1652=)
c.4953T>C (p.Ser1651=)
c.1173T>C (p.Ser391=)
c.4968T>C (p.Ser1656=)
c.4950T>C (p.Ser1650=)
c.1305T>C (p.Ser435=)
c.4971T>C (p.Ser1657=)
c.5079T>C (p.Ser1693=)
n.11437T>C
n.11428T>C
10g.53806657A>TCA376515855PCDH15c.4004T>A
c.5145T>A (p.Ser1715Arg)
c.4956T>A (p.Ser1652Arg)
c.4953T>A (p.Ser1651Arg)
c.1173T>A (p.Ser391Arg)
c.4968T>A (p.Ser1656Arg)
c.4950T>A (p.Ser1650Arg)
c.1305T>A (p.Ser435Arg)
c.4971T>A (p.Ser1657Arg)
c.5079T>A (p.Ser1693Arg)
n.11437T>A
n.11428T>A
10g.53806658C>ACA376515857PCDH15c.4003G>T
c.5144G>T (p.Ser1715Ile)
c.4955G>T (p.Ser1652Ile)
c.4952G>T (p.Ser1651Ile)
c.1172G>T (p.Ser391Ile)
c.4967G>T (p.Ser1656Ile)
c.4949G>T (p.Ser1650Ile)
c.1304G>T (p.Ser435Ile)
c.4970G>T (p.Ser1657Ile)
c.5078G>T (p.Ser1693Ile)
n.11436G>T
n.11427G>T
10g.53806658C>GCA376515861PCDH15c.4003G>C
c.5144G>C (p.Ser1715Thr)
c.4955G>C (p.Ser1652Thr)
c.4952G>C (p.Ser1651Thr)
c.1172G>C (p.Ser391Thr)
c.4967G>C (p.Ser1656Thr)
c.4949G>C (p.Ser1650Thr)
c.1304G>C (p.Ser435Thr)
c.4970G>C (p.Ser1657Thr)
c.5078G>C (p.Ser1693Thr)
n.11436G>C
n.11427G>C
10g.53806658C>TCA376515859PCDH15c.4003G>A
c.5144G>A (p.Ser1715Asn)
c.4955G>A (p.Ser1652Asn)
c.4952G>A (p.Ser1651Asn)
c.1172G>A (p.Ser391Asn)
c.4967G>A (p.Ser1656Asn)
c.4949G>A (p.Ser1650Asn)
c.1304G>A (p.Ser435Asn)
c.4970G>A (p.Ser1657Asn)
c.5078G>A (p.Ser1693Asn)
n.11436G>A
n.11427G>A
 gnomAD v4
10g.53806659T>ACA376515863PCDH15c.4002A>T
c.5143A>T (p.Ser1715Cys)
c.4954A>T (p.Ser1652Cys)
c.4951A>T (p.Ser1651Cys)
c.1171A>T (p.Ser391Cys)
c.4966A>T (p.Ser1656Cys)
c.4948A>T (p.Ser1650Cys)
c.1303A>T (p.Ser435Cys)
c.4969A>T (p.Ser1657Cys)
c.5077A>T (p.Ser1693Cys)
n.11435A>T
n.11426A>T
 COSMIC
10g.53806659T>CCA376515864PCDH15c.4002A>G
c.5143A>G (p.Ser1715Gly)
c.4954A>G (p.Ser1652Gly)
c.4951A>G (p.Ser1651Gly)
c.1171A>G (p.Ser391Gly)
c.4966A>G (p.Ser1656Gly)
c.4948A>G (p.Ser1650Gly)
c.1303A>G (p.Ser435Gly)
c.4969A>G (p.Ser1657Gly)
c.5077A>G (p.Ser1693Gly)
n.11435A>G
n.11426A>G
 gnomAD v4
10g.53806659T>GCA376515866PCDH15c.4002A>C
c.5143A>C (p.Ser1715Arg)
c.4954A>C (p.Ser1652Arg)
c.4951A>C (p.Ser1651Arg)
c.1171A>C (p.Ser391Arg)
c.4966A>C (p.Ser1656Arg)
c.4948A>C (p.Ser1650Arg)
c.1303A>C (p.Ser435Arg)
c.4969A>C (p.Ser1657Arg)
c.5077A>C (p.Ser1693Arg)
n.11435A>C
n.11426A>C
10g.53806661_53806690dupCA2609218337PCDH15c.3973_4002dup
c.5114_5143dup (p.His1714_Ser1715insLysAsnIleLysGluAlaLeuGluPheHis)
c.4925_4954dup (p.His1651_Ser1652insLysAsnIleLysGluAlaLeuGluPheHis)
c.4922_4951dup (p.His1650_Ser1651insLysAsnIleLysGluAlaLeuGluPheHis)
c.1142_1171dup (p.His390_Ser391insLysAsnIleLysGluAlaLeuGluPheHis)
c.4937_4966dup (p.His1655_Ser1656insLysAsnIleLysGluAlaLeuGluPheHis)
c.4919_4948dup (p.His1649_Ser1650insLysAsnIleLysGluAlaLeuGluPheHis)
c.1274_1303dup (p.His434_Ser435insLysAsnIleLysGluAlaLeuGluPheHis)
c.4940_4969dup (p.His1656_Ser1657insLysAsnIleLysGluAlaLeuGluPheHis)
c.5048_5077dup (p.His1692_Ser1693insLysAsnIleLysGluAlaLeuGluPheHis)
n.11406_11435dup
n.11397_11426dup
 gnomAD v4
10g.53806660A=CA1910755882PCDH15c.4001T=
c.5142T= (p.His1714=)
c.4953T= (p.His1651=)
c.4950T= (p.His1650=)
c.1170T= (p.His390=)
c.4965T= (p.His1655=)
c.4947T= (p.His1649=)
c.1302T= (p.His434=)
c.4968T= (p.His1656=)
c.5076T= (p.His1692=)
n.11434T=
n.11425T=
10g.53806660A>CCA376515868PCDH15c.4001T>G
c.5142T>G (p.His1714Gln)
c.4953T>G (p.His1651Gln)
c.4950T>G (p.His1650Gln)
c.1170T>G (p.His390Gln)
c.4965T>G (p.His1655Gln)
c.4947T>G (p.His1649Gln)
c.1302T>G (p.His434Gln)
c.4968T>G (p.His1656Gln)
c.5076T>G (p.His1692Gln)
n.11434T>G
n.11425T>G
10g.53806660A>GCA5504502PCDH15c.4001T>C
c.5142T>C (p.His1714=)
c.4953T>C (p.His1651=)
c.4950T>C (p.His1650=)
c.1170T>C (p.His390=)
c.4965T>C (p.His1655=)
c.4947T>C (p.His1649=)
c.1302T>C (p.His434=)
c.4968T>C (p.His1656=)
c.5076T>C (p.His1692=)
n.11434T>C
n.11425T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.53806660A>TCA376515870PCDH15c.4001T>A
c.5142T>A (p.His1714Gln)
c.4953T>A (p.His1651Gln)
c.4950T>A (p.His1650Gln)
c.1170T>A (p.His390Gln)
c.4965T>A (p.His1655Gln)
c.4947T>A (p.His1649Gln)
c.1302T>A (p.His434Gln)
c.4968T>A (p.His1656Gln)
c.5076T>A (p.His1692Gln)
n.11434T>A
n.11425T>A
10g.53806661T>ACA376515872PCDH15c.4000A>T
c.5141A>T (p.His1714Leu)
c.4952A>T (p.His1651Leu)
c.4949A>T (p.His1650Leu)
c.1169A>T (p.His390Leu)
c.4964A>T (p.His1655Leu)
c.4946A>T (p.His1649Leu)
c.1301A>T (p.His434Leu)
c.4967A>T (p.His1656Leu)
c.5075A>T (p.His1692Leu)
n.11433A>T
n.11424A>T
 dbSNP
10g.53806661T>CCA5504503PCDH15c.4000A>G
c.5141A>G (p.His1714Arg)
c.4952A>G (p.His1651Arg)
c.4949A>G (p.His1650Arg)
c.1169A>G (p.His390Arg)
c.4964A>G (p.His1655Arg)
c.4946A>G (p.His1649Arg)
c.1301A>G (p.His434Arg)
c.4967A>G (p.His1656Arg)
c.5075A>G (p.His1692Arg)
n.11433A>G
n.11424A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806661T>GCA376515874PCDH15c.4000A>C
c.5141A>C (p.His1714Pro)
c.4952A>C (p.His1651Pro)
c.4949A>C (p.His1650Pro)
c.1169A>C (p.His390Pro)
c.4964A>C (p.His1655Pro)
c.4946A>C (p.His1649Pro)
c.1301A>C (p.His434Pro)
c.4967A>C (p.His1656Pro)
c.5075A>C (p.His1692Pro)
n.11433A>C
n.11424A>C
 gnomAD v4
10g.53806661T=CA1910755885PCDH15c.4000A=
c.5141A= (p.His1714=)
c.4952A= (p.His1651=)
c.4949A= (p.His1650=)
c.1169A= (p.His390=)
c.4964A= (p.His1655=)
c.4946A= (p.His1649=)
c.1301A= (p.His434=)
c.4967A= (p.His1656=)
c.5075A= (p.His1692=)
n.11433A=
n.11424A=
10g.53806662G>ACA376515876PCDH15c.3999C>T
c.5140C>T (p.His1714Tyr)
c.4951C>T (p.His1651Tyr)
c.4948C>T (p.His1650Tyr)
c.1168C>T (p.His390Tyr)
c.4963C>T (p.His1655Tyr)
c.4945C>T (p.His1649Tyr)
c.1300C>T (p.His434Tyr)
c.4966C>T (p.His1656Tyr)
c.5074C>T (p.His1692Tyr)
n.11432C>T
n.11423C>T
 COSMIC
10g.53806662G>CCA376515877PCDH15c.3999C>G
c.5140C>G (p.His1714Asp)
c.4951C>G (p.His1651Asp)
c.4948C>G (p.His1650Asp)
c.1168C>G (p.His390Asp)
c.4963C>G (p.His1655Asp)
c.4945C>G (p.His1649Asp)
c.1300C>G (p.His434Asp)
c.4966C>G (p.His1656Asp)
c.5074C>G (p.His1692Asp)
n.11432C>G
n.11423C>G
10g.53806662G>TCA376515878PCDH15c.3999C>A
c.5140C>A (p.His1714Asn)
c.4951C>A (p.His1651Asn)
c.4948C>A (p.His1650Asn)
c.1168C>A (p.His390Asn)
c.4963C>A (p.His1655Asn)
c.4945C>A (p.His1649Asn)
c.1300C>A (p.His434Asn)
c.4966C>A (p.His1656Asn)
c.5074C>A (p.His1692Asn)
n.11432C>A
n.11423C>A
10g.53806663A=CA1910755889PCDH15c.3998T=
c.5139T= (p.Phe1713=)
c.4950T= (p.Phe1650=)
c.4947T= (p.Phe1649=)
c.1167T= (p.Phe389=)
c.4962T= (p.Phe1654=)
c.4944T= (p.Phe1648=)
c.1299T= (p.Phe433=)
c.4965T= (p.Phe1655=)
c.5073T= (p.Phe1691=)
n.11431T=
n.11422T=
10g.53806663A>CCA376515880PCDH15c.3998T>G
c.5139T>G (p.Phe1713Leu)
c.4950T>G (p.Phe1650Leu)
c.4947T>G (p.Phe1649Leu)
c.1167T>G (p.Phe389Leu)
c.4962T>G (p.Phe1654Leu)
c.4944T>G (p.Phe1648Leu)
c.1299T>G (p.Phe433Leu)
c.4965T>G (p.Phe1655Leu)
c.5073T>G (p.Phe1691Leu)
n.11431T>G
n.11422T>G
 dbSNP gnomAD v2
10g.53806663A>GCA469545838PCDH15c.3998T>C
c.5139T>C (p.Phe1713=)
c.4950T>C (p.Phe1650=)
c.4947T>C (p.Phe1649=)
c.1167T>C (p.Phe389=)
c.4962T>C (p.Phe1654=)
c.4944T>C (p.Phe1648=)
c.1299T>C (p.Phe433=)
c.4965T>C (p.Phe1655=)
c.5073T>C (p.Phe1691=)
n.11431T>C
n.11422T>C
10g.53806663A>TCA376515882PCDH15c.3998T>A
c.5139T>A (p.Phe1713Leu)
c.4950T>A (p.Phe1650Leu)
c.4947T>A (p.Phe1649Leu)
c.1167T>A (p.Phe389Leu)
c.4962T>A (p.Phe1654Leu)
c.4944T>A (p.Phe1648Leu)
c.1299T>A (p.Phe433Leu)
c.4965T>A (p.Phe1655Leu)
c.5073T>A (p.Phe1691Leu)
n.11431T>A
n.11422T>A
10g.53806664A>CCA376515884PCDH15c.3997T>G
c.5138T>G (p.Phe1713Cys)
c.4949T>G (p.Phe1650Cys)
c.4946T>G (p.Phe1649Cys)
c.1166T>G (p.Phe389Cys)
c.4961T>G (p.Phe1654Cys)
c.4943T>G (p.Phe1648Cys)
c.1298T>G (p.Phe433Cys)
c.4964T>G (p.Phe1655Cys)
c.5072T>G (p.Phe1691Cys)
n.11430T>G
n.11421T>G
10g.53806664A>GCA376515887PCDH15c.3997T>C
c.5138T>C (p.Phe1713Ser)
c.4949T>C (p.Phe1650Ser)
c.4946T>C (p.Phe1649Ser)
c.1166T>C (p.Phe389Ser)
c.4961T>C (p.Phe1654Ser)
c.4943T>C (p.Phe1648Ser)
c.1298T>C (p.Phe433Ser)
c.4964T>C (p.Phe1655Ser)
c.5072T>C (p.Phe1691Ser)
n.11430T>C
n.11421T>C
10g.53806664A>TCA376515885PCDH15c.3997T>A
c.5138T>A (p.Phe1713Tyr)
c.4949T>A (p.Phe1650Tyr)
c.4946T>A (p.Phe1649Tyr)
c.1166T>A (p.Phe389Tyr)
c.4961T>A (p.Phe1654Tyr)
c.4943T>A (p.Phe1648Tyr)
c.1298T>A (p.Phe433Tyr)
c.4964T>A (p.Phe1655Tyr)
c.5072T>A (p.Phe1691Tyr)
n.11430T>A
n.11421T>A
10g.53806665A>CCA376515889PCDH15c.3996T>G
c.5137T>G (p.Phe1713Val)
c.4948T>G (p.Phe1650Val)
c.4945T>G (p.Phe1649Val)
c.1165T>G (p.Phe389Val)
c.4960T>G (p.Phe1654Val)
c.4942T>G (p.Phe1648Val)
c.1297T>G (p.Phe433Val)
c.4963T>G (p.Phe1655Val)
c.5071T>G (p.Phe1691Val)
n.11429T>G
n.11420T>G
10g.53806665A>GCA376515891PCDH15c.3996T>C
c.5137T>C (p.Phe1713Leu)
c.4948T>C (p.Phe1650Leu)
c.4945T>C (p.Phe1649Leu)
c.1165T>C (p.Phe389Leu)
c.4960T>C (p.Phe1654Leu)
c.4942T>C (p.Phe1648Leu)
c.1297T>C (p.Phe433Leu)
c.4963T>C (p.Phe1655Leu)
c.5071T>C (p.Phe1691Leu)
n.11429T>C
n.11420T>C
 gnomAD v4
10g.53806665A>TCA376515892PCDH15c.3996T>A
c.5137T>A (p.Phe1713Ile)
c.4948T>A (p.Phe1650Ile)
c.4945T>A (p.Phe1649Ile)
c.1165T>A (p.Phe389Ile)
c.4960T>A (p.Phe1654Ile)
c.4942T>A (p.Phe1648Ile)
c.1297T>A (p.Phe433Ile)
c.4963T>A (p.Phe1655Ile)
c.5071T>A (p.Phe1691Ile)
n.11429T>A
n.11420T>A
10g.53806666T>ACA376515894PCDH15c.3995A>T
c.5136A>T (p.Glu1712Asp)
c.4947A>T (p.Glu1649Asp)
c.4944A>T (p.Glu1648Asp)
c.1164A>T (p.Glu388Asp)
c.4959A>T (p.Glu1653Asp)
c.4941A>T (p.Glu1647Asp)
c.1296A>T (p.Glu432Asp)
c.4962A>T (p.Glu1654Asp)
c.5070A>T (p.Glu1690Asp)
n.11428A>T
n.11419A>T
10g.53806666T>CCA469545839PCDH15c.3995A>G
c.5136A>G (p.Glu1712=)
c.4947A>G (p.Glu1649=)
c.4944A>G (p.Glu1648=)
c.1164A>G (p.Glu388=)
c.4959A>G (p.Glu1653=)
c.4941A>G (p.Glu1647=)
c.1296A>G (p.Glu432=)
c.4962A>G (p.Glu1654=)
c.5070A>G (p.Glu1690=)
n.11428A>G
n.11419A>G
10g.53806666T>GCA376515896PCDH15c.3995A>C
c.5136A>C (p.Glu1712Asp)
c.4947A>C (p.Glu1649Asp)
c.4944A>C (p.Glu1648Asp)
c.1164A>C (p.Glu388Asp)
c.4959A>C (p.Glu1653Asp)
c.4941A>C (p.Glu1647Asp)
c.1296A>C (p.Glu432Asp)
c.4962A>C (p.Glu1654Asp)
c.5070A>C (p.Glu1690Asp)
n.11428A>C
n.11419A>C
10g.53806667T>ACA376515898PCDH15c.3994A>T
c.5135A>T (p.Glu1712Val)
c.4946A>T (p.Glu1649Val)
c.4943A>T (p.Glu1648Val)
c.1163A>T (p.Glu388Val)
c.4958A>T (p.Glu1653Val)
c.4940A>T (p.Glu1647Val)
c.1295A>T (p.Glu432Val)
c.4961A>T (p.Glu1654Val)
c.5069A>T (p.Glu1690Val)
n.11427A>T
n.11418A>T
10g.53806667T>CCA376515899PCDH15c.3994A>G
c.5135A>G (p.Glu1712Gly)
c.4946A>G (p.Glu1649Gly)
c.4943A>G (p.Glu1648Gly)
c.1163A>G (p.Glu388Gly)
c.4958A>G (p.Glu1653Gly)
c.4940A>G (p.Glu1647Gly)
c.1295A>G (p.Glu432Gly)
c.4961A>G (p.Glu1654Gly)
c.5069A>G (p.Glu1690Gly)
n.11427A>G
n.11418A>G
10g.53806667T>GCA376515901PCDH15c.3994A>C
c.5135A>C (p.Glu1712Ala)
c.4946A>C (p.Glu1649Ala)
c.4943A>C (p.Glu1648Ala)
c.1163A>C (p.Glu388Ala)
c.4958A>C (p.Glu1653Ala)
c.4940A>C (p.Glu1647Ala)
c.1295A>C (p.Glu432Ala)
c.4961A>C (p.Glu1654Ala)
c.5069A>C (p.Glu1690Ala)
n.11427A>C
n.11418A>C
10g.53806668C>ACA376515903PCDH15c.3993G>T
c.5134G>T (p.Glu1712Ter)
c.4945G>T (p.Glu1649Ter)
c.4942G>T (p.Glu1648Ter)
c.1162G>T (p.Glu388Ter)
c.4957G>T (p.Glu1653Ter)
c.4939G>T (p.Glu1647Ter)
c.1294G>T (p.Glu432Ter)
c.4960G>T (p.Glu1654Ter)
c.5068G>T (p.Glu1690Ter)
n.11426G>T
n.11417G>T
10g.53806668C=CA1910755893PCDH15c.3993G=
c.5134G= (p.Glu1712=)
c.4945G= (p.Glu1649=)
c.4942G= (p.Glu1648=)
c.1162G= (p.Glu388=)
c.4957G= (p.Glu1653=)
c.4939G= (p.Glu1647=)
c.1294G= (p.Glu432=)
c.4960G= (p.Glu1654=)
c.5068G= (p.Glu1690=)
n.11426G=
n.11417G=
10g.53806668C>GCA376515904PCDH15c.3993G>C
c.5134G>C (p.Glu1712Gln)
c.4945G>C (p.Glu1649Gln)
c.4942G>C (p.Glu1648Gln)
c.1162G>C (p.Glu388Gln)
c.4957G>C (p.Glu1653Gln)
c.4939G>C (p.Glu1647Gln)
c.1294G>C (p.Glu432Gln)
c.4960G>C (p.Glu1654Gln)
c.5068G>C (p.Glu1690Gln)
n.11426G>C
n.11417G>C
10g.53806668C>TCA207195717PCDH15c.3993G>A
c.5134G>A (p.Glu1712Lys)
c.4945G>A (p.Glu1649Lys)
c.4942G>A (p.Glu1648Lys)
c.1162G>A (p.Glu388Lys)
c.4957G>A (p.Glu1653Lys)
c.4939G>A (p.Glu1647Lys)
c.1294G>A (p.Glu432Lys)
c.4960G>A (p.Glu1654Lys)
c.5068G>A (p.Glu1690Lys)
n.11426G>A
n.11417G>A
 dbSNP
10g.53806669C>ACA376515906PCDH15c.3992G>T
c.5133G>T (p.Leu1711Phe)
c.4944G>T (p.Leu1648Phe)
c.4941G>T (p.Leu1647Phe)
c.1161G>T (p.Leu387Phe)
c.4956G>T (p.Leu1652Phe)
c.4938G>T (p.Leu1646Phe)
c.1293G>T (p.Leu431Phe)
c.4959G>T (p.Leu1653Phe)
c.5067G>T (p.Leu1689Phe)
n.11425G>T
n.11416G>T
10g.53806669C>GCA376515907PCDH15c.3992G>C
c.5133G>C (p.Leu1711Phe)
c.4944G>C (p.Leu1648Phe)
c.4941G>C (p.Leu1647Phe)
c.1161G>C (p.Leu387Phe)
c.4956G>C (p.Leu1652Phe)
c.4938G>C (p.Leu1646Phe)
c.1293G>C (p.Leu431Phe)
c.4959G>C (p.Leu1653Phe)
c.5067G>C (p.Leu1689Phe)
n.11425G>C
n.11416G>C
10g.53806669C>TCA469545840PCDH15c.3992G>A
c.5133G>A (p.Leu1711=)
c.4944G>A (p.Leu1648=)
c.4941G>A (p.Leu1647=)
c.1161G>A (p.Leu387=)
c.4956G>A (p.Leu1652=)
c.4938G>A (p.Leu1646=)
c.1293G>A (p.Leu431=)
c.4959G>A (p.Leu1653=)
c.5067G>A (p.Leu1689=)
n.11425G>A
n.11416G>A
 gnomAD v4
10g.53806670A>CCA376515910PCDH15c.3991T>G
c.5132T>G (p.Leu1711Trp)
c.4943T>G (p.Leu1648Trp)
c.4940T>G (p.Leu1647Trp)
c.1160T>G (p.Leu387Trp)
c.4955T>G (p.Leu1652Trp)
c.4937T>G (p.Leu1646Trp)
c.1292T>G (p.Leu431Trp)
c.4958T>G (p.Leu1653Trp)
c.5066T>G (p.Leu1689Trp)
n.11424T>G
n.11415T>G
10g.53806670A>GCA376515913PCDH15c.3991T>C
c.5132T>C (p.Leu1711Ser)
c.4943T>C (p.Leu1648Ser)
c.4940T>C (p.Leu1647Ser)
c.1160T>C (p.Leu387Ser)
c.4955T>C (p.Leu1652Ser)
c.4937T>C (p.Leu1646Ser)
c.1292T>C (p.Leu431Ser)
c.4958T>C (p.Leu1653Ser)
c.5066T>C (p.Leu1689Ser)
n.11424T>C
n.11415T>C
10g.53806670A>TCA376515911PCDH15c.3991T>A
c.5132T>A (p.Leu1711Ter)
c.4943T>A (p.Leu1648Ter)
c.4940T>A (p.Leu1647Ter)
c.1160T>A (p.Leu387Ter)
c.4955T>A (p.Leu1652Ter)
c.4937T>A (p.Leu1646Ter)
c.1292T>A (p.Leu431Ter)
c.4958T>A (p.Leu1653Ter)
c.5066T>A (p.Leu1689Ter)
n.11424T>A
n.11415T>A
10g.53806672delCA2609218338PCDH15c.3991del
c.5132del (p.Leu1711TrpfsTer27)
c.4943del (p.Leu1648TrpfsTer27)
c.4940del (p.Leu1647TrpfsTer27)
c.1160del (p.Leu387TrpfsTer27)
c.4955del (p.Leu1652TrpfsTer27)
c.4937del (p.Leu1646TrpfsTer27)
c.1292del (p.Leu431TrpfsTer27)
c.4958del (p.Leu1653TrpfsTer27)
c.5066del (p.Leu1689TrpfsTer27)
n.11424del
n.11415del
 gnomAD v4
10g.53806671A>CCA376515915PCDH15c.3990T>G
c.5131T>G (p.Leu1711Val)
c.4942T>G (p.Leu1648Val)
c.4939T>G (p.Leu1647Val)
c.1159T>G (p.Leu387Val)
c.4954T>G (p.Leu1652Val)
c.4936T>G (p.Leu1646Val)
c.1291T>G (p.Leu431Val)
c.4957T>G (p.Leu1653Val)
c.5065T>G (p.Leu1689Val)
n.11423T>G
n.11414T>G
10g.53806671A>GCA469545841PCDH15c.3990T>C
c.5131T>C (p.Leu1711=)
c.4942T>C (p.Leu1648=)
c.4939T>C (p.Leu1647=)
c.1159T>C (p.Leu387=)
c.4954T>C (p.Leu1652=)
c.4936T>C (p.Leu1646=)
c.1291T>C (p.Leu431=)
c.4957T>C (p.Leu1653=)
c.5065T>C (p.Leu1689=)
n.11423T>C
n.11414T>C
10g.53806671A>TCA376515917PCDH15c.3990T>A
c.5131T>A (p.Leu1711Met)
c.4942T>A (p.Leu1648Met)
c.4939T>A (p.Leu1647Met)
c.1159T>A (p.Leu387Met)
c.4954T>A (p.Leu1652Met)
c.4936T>A (p.Leu1646Met)
c.1291T>A (p.Leu431Met)
c.4957T>A (p.Leu1653Met)
c.5065T>A (p.Leu1689Met)
n.11423T>A
n.11414T>A
10g.53806672A>CCA469545842PCDH15c.3989T>G
c.5130T>G (p.Ala1710=)
c.4941T>G (p.Ala1647=)
c.4938T>G (p.Ala1646=)
c.1158T>G (p.Ala386=)
c.4953T>G (p.Ala1651=)
c.4935T>G (p.Ala1645=)
c.1290T>G (p.Ala430=)
c.4956T>G (p.Ala1652=)
c.5064T>G (p.Ala1688=)
n.11422T>G
n.11413T>G
 gnomAD v4
10g.53806672A>GCA469545843PCDH15c.3989T>C
c.5130T>C (p.Ala1710=)
c.4941T>C (p.Ala1647=)
c.4938T>C (p.Ala1646=)
c.1158T>C (p.Ala386=)
c.4953T>C (p.Ala1651=)
c.4935T>C (p.Ala1645=)
c.1290T>C (p.Ala430=)
c.4956T>C (p.Ala1652=)
c.5064T>C (p.Ala1688=)
n.11422T>C
n.11413T>C
10g.53806672A>TCA469545844PCDH15c.3989T>A
c.5130T>A (p.Ala1710=)
c.4941T>A (p.Ala1647=)
c.4938T>A (p.Ala1646=)
c.1158T>A (p.Ala386=)
c.4953T>A (p.Ala1651=)
c.4935T>A (p.Ala1645=)
c.1290T>A (p.Ala430=)
c.4956T>A (p.Ala1652=)
c.5064T>A (p.Ala1688=)
n.11422T>A
n.11413T>A
10g.53806673G>ACA376515918PCDH15c.3988C>T
c.5129C>T (p.Ala1710Val)
c.4940C>T (p.Ala1647Val)
c.4937C>T (p.Ala1646Val)
c.1157C>T (p.Ala386Val)
c.4952C>T (p.Ala1651Val)
c.4934C>T (p.Ala1645Val)
c.1289C>T (p.Ala430Val)
c.4955C>T (p.Ala1652Val)
c.5063C>T (p.Ala1688Val)
n.11421C>T
n.11412C>T
10g.53806673G>CCA376515920PCDH15c.3988C>G
c.5129C>G (p.Ala1710Gly)
c.4940C>G (p.Ala1647Gly)
c.4937C>G (p.Ala1646Gly)
c.1157C>G (p.Ala386Gly)
c.4952C>G (p.Ala1651Gly)
c.4934C>G (p.Ala1645Gly)
c.1289C>G (p.Ala430Gly)
c.4955C>G (p.Ala1652Gly)
c.5063C>G (p.Ala1688Gly)
n.11421C>G
n.11412C>G
10g.53806673G>TCA376515921PCDH15c.3988C>A
c.5129C>A (p.Ala1710Asp)
c.4940C>A (p.Ala1647Asp)
c.4937C>A (p.Ala1646Asp)
c.1157C>A (p.Ala386Asp)
c.4952C>A (p.Ala1651Asp)
c.4934C>A (p.Ala1645Asp)
c.1289C>A (p.Ala430Asp)
c.4955C>A (p.Ala1652Asp)
c.5063C>A (p.Ala1688Asp)
n.11421C>A
n.11412C>A
10g.53806674C>ACA376515923PCDH15c.3987G>T
c.5128G>T (p.Ala1710Ser)
c.4939G>T (p.Ala1647Ser)
c.4936G>T (p.Ala1646Ser)
c.1156G>T (p.Ala386Ser)
c.4951G>T (p.Ala1651Ser)
c.4933G>T (p.Ala1645Ser)
c.1288G>T (p.Ala430Ser)
c.4954G>T (p.Ala1652Ser)
c.5062G>T (p.Ala1688Ser)
n.11420G>T
n.11411G>T
10g.53806674C=CA1910755900PCDH15c.3987G=
c.5128G= (p.Ala1710=)
c.4939G= (p.Ala1647=)
c.4936G= (p.Ala1646=)
c.1156G= (p.Ala386=)
c.4951G= (p.Ala1651=)
c.4933G= (p.Ala1645=)
c.1288G= (p.Ala430=)
c.4954G= (p.Ala1652=)
c.5062G= (p.Ala1688=)
n.11420G=
n.11411G=
10g.53806674C>GCA376515925PCDH15c.3987G>C
c.5128G>C (p.Ala1710Pro)
c.4939G>C (p.Ala1647Pro)
c.4936G>C (p.Ala1646Pro)
c.1156G>C (p.Ala386Pro)
c.4951G>C (p.Ala1651Pro)
c.4933G>C (p.Ala1645Pro)
c.1288G>C (p.Ala430Pro)
c.4954G>C (p.Ala1652Pro)
c.5062G>C (p.Ala1688Pro)
n.11420G>C
n.11411G>C
 dbSNP gnomAD v2 gnomAD v4
10g.53806674C>TCA376515926PCDH15c.3987G>A
c.5128G>A (p.Ala1710Thr)
c.4939G>A (p.Ala1647Thr)
c.4936G>A (p.Ala1646Thr)
c.1156G>A (p.Ala386Thr)
c.4951G>A (p.Ala1651Thr)
c.4933G>A (p.Ala1645Thr)
c.1288G>A (p.Ala430Thr)
c.4954G>A (p.Ala1652Thr)
c.5062G>A (p.Ala1688Thr)
n.11420G>A
n.11411G>A
 COSMIC
10g.53806675C>ACA376515927PCDH15c.3986G>T
c.5127G>T (p.Glu1709Asp)
c.4938G>T (p.Glu1646Asp)
c.4935G>T (p.Glu1645Asp)
c.1155G>T (p.Glu385Asp)
c.4950G>T (p.Glu1650Asp)
c.4932G>T (p.Glu1644Asp)
c.1287G>T (p.Glu429Asp)
c.4953G>T (p.Glu1651Asp)
c.5061G>T (p.Glu1687Asp)
n.11419G>T
n.11410G>T
 dbSNP gnomAD v2 gnomAD v4
10g.53806675C=CA1910755908PCDH15c.3986G=
c.5127G= (p.Glu1709=)
c.4938G= (p.Glu1646=)
c.4935G= (p.Glu1645=)
c.1155G= (p.Glu385=)
c.4950G= (p.Glu1650=)
c.4932G= (p.Glu1644=)
c.1287G= (p.Glu429=)
c.4953G= (p.Glu1651=)
c.5061G= (p.Glu1687=)
n.11419G=
n.11410G=
10g.53806675C>GCA376515928PCDH15c.3986G>C
c.5127G>C (p.Glu1709Asp)
c.4938G>C (p.Glu1646Asp)
c.4935G>C (p.Glu1645Asp)
c.1155G>C (p.Glu385Asp)
c.4950G>C (p.Glu1650Asp)
c.4932G>C (p.Glu1644Asp)
c.1287G>C (p.Glu429Asp)
c.4953G>C (p.Glu1651Asp)
c.5061G>C (p.Glu1687Asp)
n.11419G>C
n.11410G>C
10g.53806675C>TCA469545845PCDH15c.3986G>A
c.5127G>A (p.Glu1709=)
c.4938G>A (p.Glu1646=)
c.4935G>A (p.Glu1645=)
c.1155G>A (p.Glu385=)
c.4950G>A (p.Glu1650=)
c.4932G>A (p.Glu1644=)
c.1287G>A (p.Glu429=)
c.4953G>A (p.Glu1651=)
c.5061G>A (p.Glu1687=)
n.11419G>A
n.11410G>A
 gnomAD v4
10g.53806676T>ACA376515932PCDH15c.3985A>T
c.5126A>T (p.Glu1709Val)
c.4937A>T (p.Glu1646Val)
c.4934A>T (p.Glu1645Val)
c.1154A>T (p.Glu385Val)
c.4949A>T (p.Glu1650Val)
c.4931A>T (p.Glu1644Val)
c.1286A>T (p.Glu429Val)
c.4952A>T (p.Glu1651Val)
c.5060A>T (p.Glu1687Val)
n.11418A>T
n.11409A>T
10g.53806676T>CCA376515931PCDH15c.3985A>G
c.5126A>G (p.Glu1709Gly)
c.4937A>G (p.Glu1646Gly)
c.4934A>G (p.Glu1645Gly)
c.1154A>G (p.Glu385Gly)
c.4949A>G (p.Glu1650Gly)
c.4931A>G (p.Glu1644Gly)
c.1286A>G (p.Glu429Gly)
c.4952A>G (p.Glu1651Gly)
c.5060A>G (p.Glu1687Gly)
n.11418A>G
n.11409A>G
10g.53806676T>GCA376515930PCDH15c.3985A>C
c.5126A>C (p.Glu1709Ala)
c.4937A>C (p.Glu1646Ala)
c.4934A>C (p.Glu1645Ala)
c.1154A>C (p.Glu385Ala)
c.4949A>C (p.Glu1650Ala)
c.4931A>C (p.Glu1644Ala)
c.1286A>C (p.Glu429Ala)
c.4952A>C (p.Glu1651Ala)
c.5060A>C (p.Glu1687Ala)
n.11418A>C
n.11409A>C
 dbSNP gnomAD v3 gnomAD v4
10g.53806676T=CA1910755911PCDH15c.3985A=
c.5126A= (p.Glu1709=)
c.4937A= (p.Glu1646=)
c.4934A= (p.Glu1645=)
c.1154A= (p.Glu385=)
c.4949A= (p.Glu1650=)
c.4931A= (p.Glu1644=)
c.1286A= (p.Glu429=)
c.4952A= (p.Glu1651=)
c.5060A= (p.Glu1687=)
n.11418A=
n.11409A=
10g.53806677C>ACA376515933PCDH15c.3984G>T
c.5125G>T (p.Glu1709Ter)
c.4936G>T (p.Glu1646Ter)
c.4933G>T (p.Glu1645Ter)
c.1153G>T (p.Glu385Ter)
c.4948G>T (p.Glu1650Ter)
c.4930G>T (p.Glu1644Ter)
c.1285G>T (p.Glu429Ter)
c.4951G>T (p.Glu1651Ter)
c.5059G>T (p.Glu1687Ter)
n.11417G>T
n.11408G>T
 COSMIC
10g.53806677C=CA1910755917PCDH15c.3984G=
c.5125G= (p.Glu1709=)
c.4936G= (p.Glu1646=)
c.4933G= (p.Glu1645=)
c.1153G= (p.Glu385=)
c.4948G= (p.Glu1650=)
c.4930G= (p.Glu1644=)
c.1285G= (p.Glu429=)
c.4951G= (p.Glu1651=)
c.5059G= (p.Glu1687=)
n.11417G=
n.11408G=
10g.53806677C>GCA376515934PCDH15c.3984G>C
c.5125G>C (p.Glu1709Gln)
c.4936G>C (p.Glu1646Gln)
c.4933G>C (p.Glu1645Gln)
c.1153G>C (p.Glu385Gln)
c.4948G>C (p.Glu1650Gln)
c.4930G>C (p.Glu1644Gln)
c.1285G>C (p.Glu429Gln)
c.4951G>C (p.Glu1651Gln)
c.5059G>C (p.Glu1687Gln)
n.11417G>C
n.11408G>C
10g.53806677C>TCA376515936PCDH15c.3984G>A
c.5125G>A (p.Glu1709Lys)
c.4936G>A (p.Glu1646Lys)
c.4933G>A (p.Glu1645Lys)
c.1153G>A (p.Glu385Lys)
c.4948G>A (p.Glu1650Lys)
c.4930G>A (p.Glu1644Lys)
c.1285G>A (p.Glu429Lys)
c.4951G>A (p.Glu1651Lys)
c.5059G>A (p.Glu1687Lys)
n.11417G>A
n.11408G>A
 dbSNP gnomAD v3 gnomAD v4
10g.53806678C>ACA376515938PCDH15c.3983G>T
c.5124G>T (p.Lys1708Asn)
c.4935G>T (p.Lys1645Asn)
c.4932G>T (p.Lys1644Asn)
c.1152G>T (p.Lys384Asn)
c.4947G>T (p.Lys1649Asn)
c.4929G>T (p.Lys1643Asn)
c.1284G>T (p.Lys428Asn)
c.4950G>T (p.Lys1650Asn)
c.5058G>T (p.Lys1686Asn)
n.11416G>T
n.11407G>T
10g.53806678C=CA1910755923PCDH15c.3983G=
c.5124G= (p.Lys1708=)
c.4935G= (p.Lys1645=)
c.4932G= (p.Lys1644=)
c.1152G= (p.Lys384=)
c.4947G= (p.Lys1649=)
c.4929G= (p.Lys1643=)
c.1284G= (p.Lys428=)
c.4950G= (p.Lys1650=)
c.5058G= (p.Lys1686=)
n.11416G=
n.11407G=
10g.53806678C>GCA376515940PCDH15c.3983G>C
c.5124G>C (p.Lys1708Asn)
c.4935G>C (p.Lys1645Asn)
c.4932G>C (p.Lys1644Asn)
c.1152G>C (p.Lys384Asn)
c.4947G>C (p.Lys1649Asn)
c.4929G>C (p.Lys1643Asn)
c.1284G>C (p.Lys428Asn)
c.4950G>C (p.Lys1650Asn)
c.5058G>C (p.Lys1686Asn)
n.11416G>C
n.11407G>C
10g.53806678C>TCA5504504PCDH15c.3983G>A
c.5124G>A (p.Lys1708=)
c.4935G>A (p.Lys1645=)
c.4932G>A (p.Lys1644=)
c.1152G>A (p.Lys384=)
c.4947G>A (p.Lys1649=)
c.4929G>A (p.Lys1643=)
c.1284G>A (p.Lys428=)
c.4950G>A (p.Lys1650=)
c.5058G>A (p.Lys1686=)
n.11416G>A
n.11407G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806679T>ACA376515945PCDH15c.3982A>T
c.5123A>T (p.Lys1708Met)
c.4934A>T (p.Lys1645Met)
c.4931A>T (p.Lys1644Met)
c.1151A>T (p.Lys384Met)
c.4946A>T (p.Lys1649Met)
c.4928A>T (p.Lys1643Met)
c.1283A>T (p.Lys428Met)
c.4949A>T (p.Lys1650Met)
c.5057A>T (p.Lys1686Met)
n.11415A>T
n.11406A>T
10g.53806679T>CCA5504505PCDH15c.3982A>G
c.5123A>G (p.Lys1708Arg)
c.4934A>G (p.Lys1645Arg)
c.4931A>G (p.Lys1644Arg)
c.1151A>G (p.Lys384Arg)
c.4946A>G (p.Lys1649Arg)
c.4928A>G (p.Lys1643Arg)
c.1283A>G (p.Lys428Arg)
c.4949A>G (p.Lys1650Arg)
c.5057A>G (p.Lys1686Arg)
n.11415A>G
n.11406A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806679T>GCA376515943PCDH15c.3982A>C
c.5123A>C (p.Lys1708Thr)
c.4934A>C (p.Lys1645Thr)
c.4931A>C (p.Lys1644Thr)
c.1151A>C (p.Lys384Thr)
c.4946A>C (p.Lys1649Thr)
c.4928A>C (p.Lys1643Thr)
c.1283A>C (p.Lys428Thr)
c.4949A>C (p.Lys1650Thr)
c.5057A>C (p.Lys1686Thr)
n.11415A>C
n.11406A>C
10g.53806679T=CA1910755932PCDH15c.3982A=
c.5123A= (p.Lys1708=)
c.4934A= (p.Lys1645=)
c.4931A= (p.Lys1644=)
c.1151A= (p.Lys384=)
c.4946A= (p.Lys1649=)
c.4928A= (p.Lys1643=)
c.1283A= (p.Lys428=)
c.4949A= (p.Lys1650=)
c.5057A= (p.Lys1686=)
n.11415A=
n.11406A=
10g.53806680T>ACA376515947PCDH15c.3981A>T
c.5122A>T (p.Lys1708Ter)
c.4933A>T (p.Lys1645Ter)
c.4930A>T (p.Lys1644Ter)
c.1150A>T (p.Lys384Ter)
c.4945A>T (p.Lys1649Ter)
c.4927A>T (p.Lys1643Ter)
c.1282A>T (p.Lys428Ter)
c.4948A>T (p.Lys1650Ter)
c.5056A>T (p.Lys1686Ter)
n.11414A>T
n.11405A>T
10g.53806680T>CCA376515949PCDH15c.3981A>G
c.5122A>G (p.Lys1708Glu)
c.4933A>G (p.Lys1645Glu)
c.4930A>G (p.Lys1644Glu)
c.1150A>G (p.Lys384Glu)
c.4945A>G (p.Lys1649Glu)
c.4927A>G (p.Lys1643Glu)
c.1282A>G (p.Lys428Glu)
c.4948A>G (p.Lys1650Glu)
c.5056A>G (p.Lys1686Glu)
n.11414A>G
n.11405A>G
10g.53806680T>GCA376515951PCDH15c.3981A>C
c.5122A>C (p.Lys1708Gln)
c.4933A>C (p.Lys1645Gln)
c.4930A>C (p.Lys1644Gln)
c.1150A>C (p.Lys384Gln)
c.4945A>C (p.Lys1649Gln)
c.4927A>C (p.Lys1643Gln)
c.1282A>C (p.Lys428Gln)
c.4948A>C (p.Lys1650Gln)
c.5056A>C (p.Lys1686Gln)
n.11414A>C
n.11405A>C
10g.53806680T=CA1910755939PCDH15c.3981A=
c.5122A= (p.Lys1708=)
c.4933A= (p.Lys1645=)
c.4930A= (p.Lys1644=)
c.1150A= (p.Lys384=)
c.4945A= (p.Lys1649=)
c.4927A= (p.Lys1643=)
c.1282A= (p.Lys428=)
c.4948A= (p.Lys1650=)
c.5056A= (p.Lys1686=)
n.11414A=
n.11405A=
10g.53806682_53806684dupCA593782933PCDH15c.3979_3981dup
c.5120_5122dup (p.Ile1707_Lys1708insIle)
c.4931_4933dup (p.Ile1644_Lys1645insIle)
c.4928_4930dup (p.Ile1643_Lys1644insIle)
c.1148_1150dup (p.Ile383_Lys384insIle)
c.4943_4945dup (p.Ile1648_Lys1649insIle)
c.4925_4927dup (p.Ile1642_Lys1643insIle)
c.1280_1282dup (p.Ile427_Lys428insIle)
c.4946_4948dup (p.Ile1649_Lys1650insIle)
c.5054_5056dup (p.Ile1685_Lys1686insIle)
n.11412_11414dup
n.11403_11405dup
 dbSNP gnomAD v2 gnomAD v4
10g.53806681G>ACA469545846PCDH15c.3980C>T
c.5121C>T (p.Ile1707=)
c.4932C>T (p.Ile1644=)
c.4929C>T (p.Ile1643=)
c.1149C>T (p.Ile383=)
c.4944C>T (p.Ile1648=)
c.4926C>T (p.Ile1642=)
c.1281C>T (p.Ile427=)
c.4947C>T (p.Ile1649=)
c.5055C>T (p.Ile1685=)
n.11413C>T
n.11404C>T
10g.53806681G>CCA376515952PCDH15c.3980C>G
c.5121C>G (p.Ile1707Met)
c.4932C>G (p.Ile1644Met)
c.4929C>G (p.Ile1643Met)
c.1149C>G (p.Ile383Met)
c.4944C>G (p.Ile1648Met)
c.4926C>G (p.Ile1642Met)
c.1281C>G (p.Ile427Met)
c.4947C>G (p.Ile1649Met)
c.5055C>G (p.Ile1685Met)
n.11413C>G
n.11404C>G
10g.53806681G=CA1910755942PCDH15c.3980C=
c.5121C= (p.Ile1707=)
c.4932C= (p.Ile1644=)
c.4929C= (p.Ile1643=)
c.1149C= (p.Ile383=)
c.4944C= (p.Ile1648=)
c.4926C= (p.Ile1642=)
c.1281C= (p.Ile427=)
c.4947C= (p.Ile1649=)
c.5055C= (p.Ile1685=)
n.11413C=
n.11404C=
10g.53806681G>TCA469545847PCDH15c.3980C>A
c.5121C>A (p.Ile1707=)
c.4932C>A (p.Ile1644=)
c.4929C>A (p.Ile1643=)
c.1149C>A (p.Ile383=)
c.4944C>A (p.Ile1648=)
c.4926C>A (p.Ile1642=)
c.1281C>A (p.Ile427=)
c.4947C>A (p.Ile1649=)
c.5055C>A (p.Ile1685=)
n.11413C>A
n.11404C>A
 dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.53806681_53806684dupCA5504506PCDH15c.3977_3980dup
c.5118_5121dup (p.Lys1708HisfsTer9)
c.4929_4932dup (p.Lys1645HisfsTer9)
c.4926_4929dup (p.Lys1644HisfsTer9)
c.1146_1149dup (p.Lys384HisfsTer9)
c.4941_4944dup (p.Lys1649HisfsTer9)
c.4923_4926dup (p.Lys1643HisfsTer9)
c.1278_1281dup (p.Lys428HisfsTer9)
c.4944_4947dup (p.Lys1650HisfsTer9)
c.5052_5055dup (p.Lys1686HisfsTer9)
n.11410_11413dup
n.11401_11404dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806682A>CCA376515954PCDH15c.3979T>G
c.5120T>G (p.Ile1707Ser)
c.4931T>G (p.Ile1644Ser)
c.4928T>G (p.Ile1643Ser)
c.1148T>G (p.Ile383Ser)
c.4943T>G (p.Ile1648Ser)
c.4925T>G (p.Ile1642Ser)
c.1280T>G (p.Ile427Ser)
c.4946T>G (p.Ile1649Ser)
c.5054T>G (p.Ile1685Ser)
n.11412T>G
n.11403T>G
10g.53806682A>GCA376515957PCDH15c.3979T>C
c.5120T>C (p.Ile1707Thr)
c.4931T>C (p.Ile1644Thr)
c.4928T>C (p.Ile1643Thr)
c.1148T>C (p.Ile383Thr)
c.4943T>C (p.Ile1648Thr)
c.4925T>C (p.Ile1642Thr)
c.1280T>C (p.Ile427Thr)
c.4946T>C (p.Ile1649Thr)
c.5054T>C (p.Ile1685Thr)
n.11412T>C
n.11403T>C
10g.53806682A>TCA376515956PCDH15c.3979T>A
c.5120T>A (p.Ile1707Asn)
c.4931T>A (p.Ile1644Asn)
c.4928T>A (p.Ile1643Asn)
c.1148T>A (p.Ile383Asn)
c.4943T>A (p.Ile1648Asn)
c.4925T>A (p.Ile1642Asn)
c.1280T>A (p.Ile427Asn)
c.4946T>A (p.Ile1649Asn)
c.5054T>A (p.Ile1685Asn)
n.11412T>A
n.11403T>A
10g.53806682_53806683delinsATCA1910755944PCDH15c.3978_3979delinsAT
c.5119_5120delinsAT (p.Ile1707=)
c.4930_4931delinsAT (p.Ile1644=)
c.4927_4928delinsAT (p.Ile1643=)
c.1147_1148delinsAT (p.Ile383=)
c.4942_4943delinsAT (p.Ile1648=)
c.4924_4925delinsAT (p.Ile1642=)
c.1279_1280delinsAT (p.Ile427=)
c.4945_4946delinsAT (p.Ile1649=)
c.5053_5054delinsAT (p.Ile1685=)
n.11411_11412delinsAT
n.11402_11403delinsAT
10g.53806683delCA1910755946PCDH15c.3978del
c.5119del (p.Ile1707SerfsTer?)
c.4930del (p.Ile1644SerfsTer?)
c.4927del (p.Ile1643SerfsTer?)
c.1147del (p.Ile383SerfsTer?)
c.4942del (p.Ile1648SerfsTer?)
c.4924del (p.Ile1642SerfsTer?)
c.1279del (p.Ile427SerfsTer?)
c.4945del (p.Ile1649SerfsTer?)
c.5053del (p.Ile1685SerfsTer?)
n.11411del
n.11402del
 dbSNP
10g.53806683T>ACA376515959PCDH15c.3978A>T
c.5119A>T (p.Ile1707Phe)
c.4930A>T (p.Ile1644Phe)
c.4927A>T (p.Ile1643Phe)
c.1147A>T (p.Ile383Phe)
c.4942A>T (p.Ile1648Phe)
c.4924A>T (p.Ile1642Phe)
c.1279A>T (p.Ile427Phe)
c.4945A>T (p.Ile1649Phe)
c.5053A>T (p.Ile1685Phe)
n.11411A>T
n.11402A>T
 dbSNP gnomAD v2 gnomAD v4
10g.53806683T>CCA376515961PCDH15c.3978A>G
c.5119A>G (p.Ile1707Val)
c.4930A>G (p.Ile1644Val)
c.4927A>G (p.Ile1643Val)
c.1147A>G (p.Ile383Val)
c.4942A>G (p.Ile1648Val)
c.4924A>G (p.Ile1642Val)
c.1279A>G (p.Ile427Val)
c.4945A>G (p.Ile1649Val)
c.5053A>G (p.Ile1685Val)
n.11411A>G
n.11402A>G
 dbSNP gnomAD v2 gnomAD v4
10g.53806683T>GCA376515962PCDH15c.3978A>C
c.5119A>C (p.Ile1707Leu)
c.4930A>C (p.Ile1644Leu)
c.4927A>C (p.Ile1643Leu)
c.1147A>C (p.Ile383Leu)
c.4942A>C (p.Ile1648Leu)
c.4924A>C (p.Ile1642Leu)
c.1279A>C (p.Ile427Leu)
c.4945A>C (p.Ile1649Leu)
c.5053A>C (p.Ile1685Leu)
n.11411A>C
n.11402A>C
 gnomAD v4
10g.53806683T=CA1910755948PCDH15c.3978A=
c.5119A= (p.Ile1707=)
c.4930A= (p.Ile1644=)
c.4927A= (p.Ile1643=)
c.1147A= (p.Ile383=)
c.4942A= (p.Ile1648=)
c.4924A= (p.Ile1642=)
c.1279A= (p.Ile427=)
c.4945A= (p.Ile1649=)
c.5053A= (p.Ile1685=)
n.11411A=
n.11402A=
10g.53806684G>ACA5504508PCDH15c.3977C>T
c.5118C>T (p.Asn1706=)
c.4929C>T (p.Asn1643=)
c.4926C>T (p.Asn1642=)
c.1146C>T (p.Asn382=)
c.4941C>T (p.Asn1647=)
c.4923C>T (p.Asn1641=)
c.1278C>T (p.Asn426=)
c.4944C>T (p.Asn1648=)
c.5052C>T (p.Asn1684=)
n.11410C>T
n.11401C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806684G>CCA376515965PCDH15c.3977C>G
c.5118C>G (p.Asn1706Lys)
c.4929C>G (p.Asn1643Lys)
c.4926C>G (p.Asn1642Lys)
c.1146C>G (p.Asn382Lys)
c.4941C>G (p.Asn1647Lys)
c.4923C>G (p.Asn1641Lys)
c.1278C>G (p.Asn426Lys)
c.4944C>G (p.Asn1648Lys)
c.5052C>G (p.Asn1684Lys)
n.11410C>G
n.11401C>G
10g.53806684G=CA1910755953PCDH15c.3977C=
c.5118C= (p.Asn1706=)
c.4929C= (p.Asn1643=)
c.4926C= (p.Asn1642=)
c.1146C= (p.Asn382=)
c.4941C= (p.Asn1647=)
c.4923C= (p.Asn1641=)
c.1278C= (p.Asn426=)
c.4944C= (p.Asn1648=)
c.5052C= (p.Asn1684=)
n.11410C=
n.11401C=
10g.53806684G>TCA376515967PCDH15c.3977C>A
c.5118C>A (p.Asn1706Lys)
c.4929C>A (p.Asn1643Lys)
c.4926C>A (p.Asn1642Lys)
c.1146C>A (p.Asn382Lys)
c.4941C>A (p.Asn1647Lys)
c.4923C>A (p.Asn1641Lys)
c.1278C>A (p.Asn426Lys)
c.4944C>A (p.Asn1648Lys)
c.5052C>A (p.Asn1684Lys)
n.11410C>A
n.11401C>A
10g.53806685T>ACA376515969PCDH15c.3976A>T
c.5117A>T (p.Asn1706Ile)
c.4928A>T (p.Asn1643Ile)
c.4925A>T (p.Asn1642Ile)
c.1145A>T (p.Asn382Ile)
c.4940A>T (p.Asn1647Ile)
c.4922A>T (p.Asn1641Ile)
c.1277A>T (p.Asn426Ile)
c.4943A>T (p.Asn1648Ile)
c.5051A>T (p.Asn1684Ile)
n.11409A>T
n.11400A>T
 dbSNP
10g.53806685T>CCA376515971PCDH15c.3976A>G
c.5117A>G (p.Asn1706Ser)
c.4928A>G (p.Asn1643Ser)
c.4925A>G (p.Asn1642Ser)
c.1145A>G (p.Asn382Ser)
c.4940A>G (p.Asn1647Ser)
c.4922A>G (p.Asn1641Ser)
c.1277A>G (p.Asn426Ser)
c.4943A>G (p.Asn1648Ser)
c.5051A>G (p.Asn1684Ser)
n.11409A>G
n.11400A>G
 COSMIC
10g.53806685T>GCA376515972PCDH15c.3976A>C
c.5117A>C (p.Asn1706Thr)
c.4928A>C (p.Asn1643Thr)
c.4925A>C (p.Asn1642Thr)
c.1145A>C (p.Asn382Thr)
c.4940A>C (p.Asn1647Thr)
c.4922A>C (p.Asn1641Thr)
c.1277A>C (p.Asn426Thr)
c.4943A>C (p.Asn1648Thr)
c.5051A>C (p.Asn1684Thr)
n.11409A>C
n.11400A>C
 gnomAD v4
10g.53806685T=CA1910755957PCDH15c.3976A=
c.5117A= (p.Asn1706=)
c.4928A= (p.Asn1643=)
c.4925A= (p.Asn1642=)
c.1145A= (p.Asn382=)
c.4940A= (p.Asn1647=)
c.4922A= (p.Asn1641=)
c.1277A= (p.Asn426=)
c.4943A= (p.Asn1648=)
c.5051A= (p.Asn1684=)
n.11409A=
n.11400A=
10g.53806686_53806689dupCA5504507PCDH15c.3973_3976dup
c.5114_5117dup (p.Asn1706LysfsTer11)
c.4925_4928dup (p.Asn1643LysfsTer11)
c.4922_4925dup (p.Asn1642LysfsTer11)
c.1142_1145dup (p.Asn382LysfsTer11)
c.4937_4940dup (p.Asn1647LysfsTer11)
c.4919_4922dup (p.Asn1641LysfsTer11)
c.1274_1277dup (p.Asn426LysfsTer11)
c.4940_4943dup (p.Asn1648LysfsTer11)
c.5048_5051dup (p.Asn1684LysfsTer11)
n.11406_11409dup
n.11397_11400dup
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806686T>ACA376515977PCDH15c.3975A>T
c.5116A>T (p.Asn1706Tyr)
c.4927A>T (p.Asn1643Tyr)
c.4924A>T (p.Asn1642Tyr)
c.1144A>T (p.Asn382Tyr)
c.4939A>T (p.Asn1647Tyr)
c.4921A>T (p.Asn1641Tyr)
c.1276A>T (p.Asn426Tyr)
c.4942A>T (p.Asn1648Tyr)
c.5050A>T (p.Asn1684Tyr)
n.11408A>T
n.11399A>T
10g.53806686T>CCA376515976PCDH15c.3975A>G
c.5116A>G (p.Asn1706Asp)
c.4927A>G (p.Asn1643Asp)
c.4924A>G (p.Asn1642Asp)
c.1144A>G (p.Asn382Asp)
c.4939A>G (p.Asn1647Asp)
c.4921A>G (p.Asn1641Asp)
c.1276A>G (p.Asn426Asp)
c.4942A>G (p.Asn1648Asp)
c.5050A>G (p.Asn1684Asp)
n.11408A>G
n.11399A>G
10g.53806686T>GCA376515974PCDH15c.3975A>C
c.5116A>C (p.Asn1706His)
c.4927A>C (p.Asn1643His)
c.4924A>C (p.Asn1642His)
c.1144A>C (p.Asn382His)
c.4939A>C (p.Asn1647His)
c.4921A>C (p.Asn1641His)
c.1276A>C (p.Asn426His)
c.4942A>C (p.Asn1648His)
c.5050A>C (p.Asn1684His)
n.11408A>C
n.11399A>C
10g.53806686_53806690delinsTCTTACA1910755959PCDH15c.3971_3975delinsTAAGA
c.5112_5116delinsTAAGA (p.Ser1704=)
c.4923_4927delinsTAAGA (p.Ser1641=)
c.4920_4924delinsTAAGA (p.Ser1640=)
c.1140_1144delinsTAAGA (p.Ser380=)
c.4935_4939delinsTAAGA (p.Ser1645=)
c.4917_4921delinsTAAGA (p.Ser1639=)
c.1272_1276delinsTAAGA (p.Ser424=)
c.4938_4942delinsTAAGA (p.Ser1646=)
c.5046_5050delinsTAAGA (p.Ser1682=)
n.11404_11408delinsTAAGA
n.11395_11399delinsTAAGA
10g.53806687C>ACA376515978PCDH15c.3974G>T
c.5115G>T (p.Lys1705Asn)
c.4926G>T (p.Lys1642Asn)
c.4923G>T (p.Lys1641Asn)
c.1143G>T (p.Lys381Asn)
c.4938G>T (p.Lys1646Asn)
c.4920G>T (p.Lys1640Asn)
c.1275G>T (p.Lys425Asn)
c.4941G>T (p.Lys1647Asn)
c.5049G>T (p.Lys1683Asn)
n.11407G>T
n.11398G>T
 dbSNP
10g.53806687C=CA1910755962PCDH15c.3974G=
c.5115G= (p.Lys1705=)
c.4926G= (p.Lys1642=)
c.4923G= (p.Lys1641=)
c.1143G= (p.Lys381=)
c.4938G= (p.Lys1646=)
c.4920G= (p.Lys1640=)
c.1275G= (p.Lys425=)
c.4941G= (p.Lys1647=)
c.5049G= (p.Lys1683=)
n.11407G=
n.11398G=
10g.53806687C>GCA376515979PCDH15c.3974G>C
c.5115G>C (p.Lys1705Asn)
c.4926G>C (p.Lys1642Asn)
c.4923G>C (p.Lys1641Asn)
c.1143G>C (p.Lys381Asn)
c.4938G>C (p.Lys1646Asn)
c.4920G>C (p.Lys1640Asn)
c.1275G>C (p.Lys425Asn)
c.4941G>C (p.Lys1647Asn)
c.5049G>C (p.Lys1683Asn)
n.11407G>C
n.11398G>C
 COSMIC
10g.53806687C>TCA469545848PCDH15c.3974G>A
c.5115G>A (p.Lys1705=)
c.4926G>A (p.Lys1642=)
c.4923G>A (p.Lys1641=)
c.1143G>A (p.Lys381=)
c.4938G>A (p.Lys1646=)
c.4920G>A (p.Lys1640=)
c.1275G>A (p.Lys425=)
c.4941G>A (p.Lys1647=)
c.5049G>A (p.Lys1683=)
n.11407G>A
n.11398G>A
 COSMIC
10g.53806689_53806692delCA666450925PCDH15c.3971_3974del
c.5112_5115del (p.Ser1704ArgfsTer?)
c.4923_4926del (p.Ser1641ArgfsTer?)
c.4920_4923del (p.Ser1640ArgfsTer?)
c.1140_1143del (p.Ser380ArgfsTer?)
c.4935_4938del (p.Ser1645ArgfsTer?)
c.4917_4920del (p.Ser1639ArgfsTer?)
c.1272_1275del (p.Ser424ArgfsTer?)
c.4938_4941del (p.Ser1646ArgfsTer?)
c.5046_5049del (p.Ser1682ArgfsTer?)
n.11404_11407del
n.11395_11398del
 dbSNP gnomAD v3 gnomAD v4
10g.53806688T>ACA376515981PCDH15c.3973A>T
c.5114A>T (p.Lys1705Met)
c.4925A>T (p.Lys1642Met)
c.4922A>T (p.Lys1641Met)
c.1142A>T (p.Lys381Met)
c.4937A>T (p.Lys1646Met)
c.4919A>T (p.Lys1640Met)
c.1274A>T (p.Lys425Met)
c.4940A>T (p.Lys1647Met)
c.5048A>T (p.Lys1683Met)
n.11406A>T
n.11397A>T
10g.53806688T>CCA376515985PCDH15c.3973A>G
c.5114A>G (p.Lys1705Arg)
c.4925A>G (p.Lys1642Arg)
c.4922A>G (p.Lys1641Arg)
c.1142A>G (p.Lys381Arg)
c.4937A>G (p.Lys1646Arg)
c.4919A>G (p.Lys1640Arg)
c.1274A>G (p.Lys425Arg)
c.4940A>G (p.Lys1647Arg)
c.5048A>G (p.Lys1683Arg)
n.11406A>G
n.11397A>G
10g.53806688T>GCA376515983PCDH15c.3973A>C
c.5114A>C (p.Lys1705Thr)
c.4925A>C (p.Lys1642Thr)
c.4922A>C (p.Lys1641Thr)
c.1142A>C (p.Lys381Thr)
c.4937A>C (p.Lys1646Thr)
c.4919A>C (p.Lys1640Thr)
c.1274A>C (p.Lys425Thr)
c.4940A>C (p.Lys1647Thr)
c.5048A>C (p.Lys1683Thr)
n.11406A>C
n.11397A>C
 COSMIC
10g.53806689T>ACA376515986PCDH15c.3972A>T
c.5113A>T (p.Lys1705Ter)
c.4924A>T (p.Lys1642Ter)
c.4921A>T (p.Lys1641Ter)
c.1141A>T (p.Lys381Ter)
c.4936A>T (p.Lys1646Ter)
c.4918A>T (p.Lys1640Ter)
c.1273A>T (p.Lys425Ter)
c.4939A>T (p.Lys1647Ter)
c.5047A>T (p.Lys1683Ter)
n.11405A>T
n.11396A>T
10g.53806689T>CCA376515988PCDH15c.3972A>G
c.5113A>G (p.Lys1705Glu)
c.4924A>G (p.Lys1642Glu)
c.4921A>G (p.Lys1641Glu)
c.1141A>G (p.Lys381Glu)
c.4936A>G (p.Lys1646Glu)
c.4918A>G (p.Lys1640Glu)
c.1273A>G (p.Lys425Glu)
c.4939A>G (p.Lys1647Glu)
c.5047A>G (p.Lys1683Glu)
n.11405A>G
n.11396A>G
 dbSNP gnomAD v2 gnomAD v4
10g.53806689T>GCA376515989PCDH15c.3972A>C
c.5113A>C (p.Lys1705Gln)
c.4924A>C (p.Lys1642Gln)
c.4921A>C (p.Lys1641Gln)
c.1141A>C (p.Lys381Gln)
c.4936A>C (p.Lys1646Gln)
c.4918A>C (p.Lys1640Gln)
c.1273A>C (p.Lys425Gln)
c.4939A>C (p.Lys1647Gln)
c.5047A>C (p.Lys1683Gln)
n.11405A>C
n.11396A>C
10g.53806689T=CA1910755967PCDH15c.3972A=
c.5113A= (p.Lys1705=)
c.4924A= (p.Lys1642=)
c.4921A= (p.Lys1641=)
c.1141A= (p.Lys381=)
c.4936A= (p.Lys1646=)
c.4918A= (p.Lys1640=)
c.1273A= (p.Lys425=)
c.4939A= (p.Lys1647=)
c.5047A= (p.Lys1683=)
n.11405A=
n.11396A=
10g.53806690A=CA1910755969PCDH15c.3971T=
c.5112T= (p.Ser1704=)
c.4923T= (p.Ser1641=)
c.4920T= (p.Ser1640=)
c.1140T= (p.Ser380=)
c.4935T= (p.Ser1645=)
c.4917T= (p.Ser1639=)
c.1272T= (p.Ser424=)
c.4938T= (p.Ser1646=)
c.5046T= (p.Ser1682=)
n.11404T=
n.11395T=
10g.53806690A>CCA376515991PCDH15c.3971T>G
c.5112T>G (p.Ser1704Arg)
c.4923T>G (p.Ser1641Arg)
c.4920T>G (p.Ser1640Arg)
c.1140T>G (p.Ser380Arg)
c.4935T>G (p.Ser1645Arg)
c.4917T>G (p.Ser1639Arg)
c.1272T>G (p.Ser424Arg)
c.4938T>G (p.Ser1646Arg)
c.5046T>G (p.Ser1682Arg)
n.11404T>G
n.11395T>G
10g.53806690A>GCA469545849PCDH15c.3971T>C
c.5112T>C (p.Ser1704=)
c.4923T>C (p.Ser1641=)
c.4920T>C (p.Ser1640=)
c.1140T>C (p.Ser380=)
c.4935T>C (p.Ser1645=)
c.4917T>C (p.Ser1639=)
c.1272T>C (p.Ser424=)
c.4938T>C (p.Ser1646=)
c.5046T>C (p.Ser1682=)
n.11404T>C
n.11395T>C
10g.53806690A>TCA376515993PCDH15c.3971T>A
c.5112T>A (p.Ser1704Arg)
c.4923T>A (p.Ser1641Arg)
c.4920T>A (p.Ser1640Arg)
c.1140T>A (p.Ser380Arg)
c.4935T>A (p.Ser1645Arg)
c.4917T>A (p.Ser1639Arg)
c.1272T>A (p.Ser424Arg)
c.4938T>A (p.Ser1646Arg)
c.5046T>A (p.Ser1682Arg)
n.11404T>A
n.11395T>A
10g.53806690dupCA912970254PCDH15c.3971dup
c.5112dup (p.Lys1705Ter)
c.4923dup (p.Lys1642Ter)
c.4920dup (p.Lys1641Ter)
c.1140dup (p.Lys381Ter)
c.4935dup (p.Lys1646Ter)
c.4917dup (p.Lys1640Ter)
c.1272dup (p.Lys425Ter)
c.4938dup (p.Lys1647Ter)
c.5046dup (p.Lys1683Ter)
n.11404dup
n.11395dup
10g.53806691C>ACA5504509PCDH15c.3970G>T
c.5111G>T (p.Ser1704Ile)
c.4922G>T (p.Ser1641Ile)
c.4919G>T (p.Ser1640Ile)
c.1139G>T (p.Ser380Ile)
c.4934G>T (p.Ser1645Ile)
c.4916G>T (p.Ser1639Ile)
c.1271G>T (p.Ser424Ile)
c.4937G>T (p.Ser1646Ile)
c.5045G>T (p.Ser1682Ile)
n.11403G>T
n.11394G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806691C=CA1910755982PCDH15c.3970G=
c.5111G= (p.Ser1704=)
c.4922G= (p.Ser1641=)
c.4919G= (p.Ser1640=)
c.1139G= (p.Ser380=)
c.4934G= (p.Ser1645=)
c.4916G= (p.Ser1639=)
c.1271G= (p.Ser424=)
c.4937G= (p.Ser1646=)
c.5045G= (p.Ser1682=)
n.11403G=
n.11394G=
10g.53806691C>GCA376515995PCDH15c.3970G>C
c.5111G>C (p.Ser1704Thr)
c.4922G>C (p.Ser1641Thr)
c.4919G>C (p.Ser1640Thr)
c.1139G>C (p.Ser380Thr)
c.4934G>C (p.Ser1645Thr)
c.4916G>C (p.Ser1639Thr)
c.1271G>C (p.Ser424Thr)
c.4937G>C (p.Ser1646Thr)
c.5045G>C (p.Ser1682Thr)
n.11403G>C
n.11394G>C
10g.53806691C>TCA376515996PCDH15c.3970G>A
c.5111G>A (p.Ser1704Asn)
c.4922G>A (p.Ser1641Asn)
c.4919G>A (p.Ser1640Asn)
c.1139G>A (p.Ser380Asn)
c.4934G>A (p.Ser1645Asn)
c.4916G>A (p.Ser1639Asn)
c.1271G>A (p.Ser424Asn)
c.4937G>A (p.Ser1646Asn)
c.5045G>A (p.Ser1682Asn)
n.11403G>A
n.11394G>A
10g.53806692_53806695dupCA658822067PCDH15c.3967_3970dup
c.5108_5111dup (p.Ser1704ArgfsTer3)
c.4919_4922dup (p.Ser1641ArgfsTer3)
c.4916_4919dup (p.Ser1640ArgfsTer3)
c.1136_1139dup (p.Ser380ArgfsTer3)
c.4931_4934dup (p.Ser1645ArgfsTer3)
c.4913_4916dup (p.Ser1639ArgfsTer3)
c.1268_1271dup (p.Ser424ArgfsTer3)
c.4934_4937dup (p.Ser1646ArgfsTer3)
c.5042_5045dup (p.Ser1682ArgfsTer3)
n.11400_11403dup
n.11391_11394dup
 ClinVar dbSNP gnomAD v4
10g.53806692T>ACA376515997PCDH15c.3969A>T
c.5110A>T (p.Ser1704Cys)
c.4921A>T (p.Ser1641Cys)
c.4918A>T (p.Ser1640Cys)
c.1138A>T (p.Ser380Cys)
c.4933A>T (p.Ser1645Cys)
c.4915A>T (p.Ser1639Cys)
c.1270A>T (p.Ser424Cys)
c.4936A>T (p.Ser1646Cys)
c.5044A>T (p.Ser1682Cys)
n.11402A>T
n.11393A>T
10g.53806692T>CCA376515998PCDH15c.3969A>G
c.5110A>G (p.Ser1704Gly)
c.4921A>G (p.Ser1641Gly)
c.4918A>G (p.Ser1640Gly)
c.1138A>G (p.Ser380Gly)
c.4933A>G (p.Ser1645Gly)
c.4915A>G (p.Ser1639Gly)
c.1270A>G (p.Ser424Gly)
c.4936A>G (p.Ser1646Gly)
c.5044A>G (p.Ser1682Gly)
n.11402A>G
n.11393A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.53806692T>GCA376515999PCDH15c.3969A>C
c.5110A>C (p.Ser1704Arg)
c.4921A>C (p.Ser1641Arg)
c.4918A>C (p.Ser1640Arg)
c.1138A>C (p.Ser380Arg)
c.4933A>C (p.Ser1645Arg)
c.4915A>C (p.Ser1639Arg)
c.1270A>C (p.Ser424Arg)
c.4936A>C (p.Ser1646Arg)
c.5044A>C (p.Ser1682Arg)
n.11402A>C
n.11393A>C
10g.53806692T=CA1910755988PCDH15c.3969A=
c.5110A= (p.Ser1704=)
c.4921A= (p.Ser1641=)
c.4918A= (p.Ser1640=)
c.1138A= (p.Ser380=)
c.4933A= (p.Ser1645=)
c.4915A= (p.Ser1639=)
c.1270A= (p.Ser424=)
c.4936A= (p.Ser1646=)
c.5044A= (p.Ser1682=)
n.11402A=
n.11393A=
10g.53806693G>ACA469545850PCDH15c.3968C>T
c.5109C>T (p.Asp1703=)
c.4920C>T (p.Asp1640=)
c.4917C>T (p.Asp1639=)
c.1137C>T (p.Asp379=)
c.4932C>T (p.Asp1644=)
c.4914C>T (p.Asp1638=)
c.1269C>T (p.Asp423=)
c.4935C>T (p.Asp1645=)
c.5043C>T (p.Asp1681=)
n.11401C>T
n.11392C>T
10g.53806693G>CCA376516002PCDH15c.3968C>G
c.5109C>G (p.Asp1703Glu)
c.4920C>G (p.Asp1640Glu)
c.4917C>G (p.Asp1639Glu)
c.1137C>G (p.Asp379Glu)
c.4932C>G (p.Asp1644Glu)
c.4914C>G (p.Asp1638Glu)
c.1269C>G (p.Asp423Glu)
c.4935C>G (p.Asp1645Glu)
c.5043C>G (p.Asp1681Glu)
n.11401C>G
n.11392C>G
10g.53806693G=CA1910755997PCDH15c.3968C=
c.5109C= (p.Asp1703=)
c.4920C= (p.Asp1640=)
c.4917C= (p.Asp1639=)
c.1137C= (p.Asp379=)
c.4932C= (p.Asp1644=)
c.4914C= (p.Asp1638=)
c.1269C= (p.Asp423=)
c.4935C= (p.Asp1645=)
c.5043C= (p.Asp1681=)
n.11401C=
n.11392C=
10g.53806693G>TCA376516000PCDH15c.3968C>A
c.5109C>A (p.Asp1703Glu)
c.4920C>A (p.Asp1640Glu)
c.4917C>A (p.Asp1639Glu)
c.1137C>A (p.Asp379Glu)
c.4932C>A (p.Asp1644Glu)
c.4914C>A (p.Asp1638Glu)
c.1269C>A (p.Asp423Glu)
c.4935C>A (p.Asp1645Glu)
c.5043C>A (p.Asp1681Glu)
n.11401C>A
n.11392C>A
 gnomAD v4
10g.53806693_53806696dupCA593782934PCDH15c.3965_3968dup
c.5106_5109dup (p.Ser1704Ter)
c.4917_4920dup (p.Ser1641Ter)
c.4914_4917dup (p.Ser1640Ter)
c.1134_1137dup (p.Ser380Ter)
c.4929_4932dup (p.Ser1645Ter)
c.4911_4914dup (p.Ser1639Ter)
c.1266_1269dup (p.Ser424Ter)
c.4932_4935dup (p.Ser1646Ter)
c.5040_5043dup (p.Ser1682Ter)
n.11398_11401dup
n.11389_11392dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.53806694T>ACA376516004PCDH15c.3967A>T
c.5108A>T (p.Asp1703Val)
c.4919A>T (p.Asp1640Val)
c.4916A>T (p.Asp1639Val)
c.1136A>T (p.Asp379Val)
c.4931A>T (p.Asp1644Val)
c.4913A>T (p.Asp1638Val)
c.1268A>T (p.Asp423Val)
c.4934A>T (p.Asp1645Val)
c.5042A>T (p.Asp1681Val)
n.11400A>T
n.11391A>T
10g.53806694T>CCA376516005PCDH15c.3967A>G
c.5108A>G (p.Asp1703Gly)
c.4919A>G (p.Asp1640Gly)
c.4916A>G (p.Asp1639Gly)
c.1136A>G (p.Asp379Gly)
c.4931A>G (p.Asp1644Gly)
c.4913A>G (p.Asp1638Gly)
c.1268A>G (p.Asp423Gly)
c.4934A>G (p.Asp1645Gly)
c.5042A>G (p.Asp1681Gly)
n.11400A>G
n.11391A>G
10g.53806694T>GCA376516006PCDH15c.3967A>C
c.5108A>C (p.Asp1703Ala)
c.4919A>C (p.Asp1640Ala)
c.4916A>C (p.Asp1639Ala)
c.1136A>C (p.Asp379Ala)
c.4931A>C (p.Asp1644Ala)
c.4913A>C (p.Asp1638Ala)
c.1268A>C (p.Asp423Ala)
c.4934A>C (p.Asp1645Ala)
c.5042A>C (p.Asp1681Ala)
n.11400A>C
n.11391A>C
10g.53806697_53806700dupCA5504510PCDH15c.3964_3967dup
c.5105_5108dup (p.Ser1704Ter)
c.4916_4919dup (p.Ser1641Ter)
c.4913_4916dup (p.Ser1640Ter)
c.1133_1136dup (p.Ser380Ter)
c.4928_4931dup (p.Ser1645Ter)
c.4910_4913dup (p.Ser1639Ter)
c.1265_1268dup (p.Ser424Ter)
c.4931_4934dup (p.Ser1646Ter)
c.5039_5042dup (p.Ser1682Ter)
n.11397_11400dup
n.11388_11391dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806695C>ACA376516008PCDH15c.3966G>T
c.5107G>T (p.Asp1703Tyr)
c.4918G>T (p.Asp1640Tyr)
c.4915G>T (p.Asp1639Tyr)
c.1135G>T (p.Asp379Tyr)
c.4930G>T (p.Asp1644Tyr)
c.4912G>T (p.Asp1638Tyr)
c.1267G>T (p.Asp423Tyr)
c.4933G>T (p.Asp1645Tyr)
c.5041G>T (p.Asp1681Tyr)
n.11399G>T
n.11390G>T
10g.53806695C>GCA376516010PCDH15c.3966G>C
c.5107G>C (p.Asp1703His)
c.4918G>C (p.Asp1640His)
c.4915G>C (p.Asp1639His)
c.1135G>C (p.Asp379His)
c.4930G>C (p.Asp1644His)
c.4912G>C (p.Asp1638His)
c.1267G>C (p.Asp423His)
c.4933G>C (p.Asp1645His)
c.5041G>C (p.Asp1681His)
n.11399G>C
n.11390G>C
10g.53806695C>TCA376516012PCDH15c.3966G>A
c.5107G>A (p.Asp1703Asn)
c.4918G>A (p.Asp1640Asn)
c.4915G>A (p.Asp1639Asn)
c.1135G>A (p.Asp379Asn)
c.4930G>A (p.Asp1644Asn)
c.4912G>A (p.Asp1638Asn)
c.1267G>A (p.Asp423Asn)
c.4933G>A (p.Asp1645Asn)
c.5041G>A (p.Asp1681Asn)
n.11399G>A
n.11390G>A
 COSMIC
10g.53806696A>CCA376516013PCDH15c.3965T>G
c.5106T>G (p.Ile1702Met)
c.4917T>G (p.Ile1639Met)
c.4914T>G (p.Ile1638Met)
c.1134T>G (p.Ile378Met)
c.4929T>G (p.Ile1643Met)
c.4911T>G (p.Ile1637Met)
c.1266T>G (p.Ile422Met)
c.4932T>G (p.Ile1644Met)
c.5040T>G (p.Ile1680Met)
n.11398T>G
n.11389T>G
10g.53806696A>GCA469545852PCDH15c.3965T>C
c.5106T>C (p.Ile1702=)
c.4917T>C (p.Ile1639=)
c.4914T>C (p.Ile1638=)
c.1134T>C (p.Ile378=)
c.4929T>C (p.Ile1643=)
c.4911T>C (p.Ile1637=)
c.1266T>C (p.Ile422=)
c.4932T>C (p.Ile1644=)
c.5040T>C (p.Ile1680=)
n.11398T>C
n.11389T>C
10g.53806696A>TCA469545851PCDH15c.3965T>A
c.5106T>A (p.Ile1702=)
c.4917T>A (p.Ile1639=)
c.4914T>A (p.Ile1638=)
c.1134T>A (p.Ile378=)
c.4929T>A (p.Ile1643=)
c.4911T>A (p.Ile1637=)
c.1266T>A (p.Ile422=)
c.4932T>A (p.Ile1644=)
c.5040T>A (p.Ile1680=)
n.11398T>A
n.11389T>A
10g.53806697A=CA1910756011PCDH15c.3964T=
c.5105T= (p.Ile1702=)
c.4916T= (p.Ile1639=)
c.4913T= (p.Ile1638=)
c.1133T= (p.Ile378=)
c.4928T= (p.Ile1643=)
c.4910T= (p.Ile1637=)
c.1265T= (p.Ile422=)
c.4931T= (p.Ile1644=)
c.5039T= (p.Ile1680=)
n.11397T=
n.11388T=
10g.53806697A>CCA5504511PCDH15c.3964T>G
c.5105T>G (p.Ile1702Ser)
c.4916T>G (p.Ile1639Ser)
c.4913T>G (p.Ile1638Ser)
c.1133T>G (p.Ile378Ser)
c.4928T>G (p.Ile1643Ser)
c.4910T>G (p.Ile1637Ser)
c.1265T>G (p.Ile422Ser)
c.4931T>G (p.Ile1644Ser)
c.5039T>G (p.Ile1680Ser)
n.11397T>G
n.11388T>G
 dbSNP ExAC gnomAD v3 gnomAD v4
10g.53806697A>GCA5504512PCDH15c.3964T>C
c.5105T>C (p.Ile1702Thr)
c.4916T>C (p.Ile1639Thr)
c.4913T>C (p.Ile1638Thr)
c.1133T>C (p.Ile378Thr)
c.4928T>C (p.Ile1643Thr)
c.4910T>C (p.Ile1637Thr)
c.1265T>C (p.Ile422Thr)
c.4931T>C (p.Ile1644Thr)
c.5039T>C (p.Ile1680Thr)
n.11397T>C
n.11388T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.53806697A>TCA376516016PCDH15c.3964T>A
c.5105T>A (p.Ile1702Asn)
c.4916T>A (p.Ile1639Asn)
c.4913T>A (p.Ile1638Asn)
c.1133T>A (p.Ile378Asn)
c.4928T>A (p.Ile1643Asn)
c.4910T>A (p.Ile1637Asn)
c.1265T>A (p.Ile422Asn)
c.4931T>A (p.Ile1644Asn)
c.5039T>A (p.Ile1680Asn)
n.11397T>A
n.11388T>A
10g.53806698T>ACA376516018PCDH15c.3963A>T
c.5104A>T (p.Ile1702Phe)
c.4915A>T (p.Ile1639Phe)
c.4912A>T (p.Ile1638Phe)
c.1132A>T (p.Ile378Phe)
c.4927A>T (p.Ile1643Phe)
c.4909A>T (p.Ile1637Phe)
c.1264A>T (p.Ile422Phe)
c.4930A>T (p.Ile1644Phe)
c.5038A>T (p.Ile1680Phe)
n.11396A>T
n.11387A>T
10g.53806698T>CCA376516019PCDH15c.3963A>G
c.5104A>G (p.Ile1702Val)
c.4915A>G (p.Ile1639Val)
c.4912A>G (p.Ile1638Val)
c.1132A>G (p.Ile378Val)
c.4927A>G (p.Ile1643Val)
c.4909A>G (p.Ile1637Val)
c.1264A>G (p.Ile422Val)
c.4930A>G (p.Ile1644Val)
c.5038A>G (p.Ile1680Val)
n.11396A>G
n.11387A>G
 dbSNP
10g.53806698T>GCA376516017PCDH15c.3963A>C
c.5104A>C (p.Ile1702Leu)
c.4915A>C (p.Ile1639Leu)
c.4912A>C (p.Ile1638Leu)
c.1132A>C (p.Ile378Leu)
c.4927A>C (p.Ile1643Leu)
c.4909A>C (p.Ile1637Leu)
c.1264A>C (p.Ile422Leu)
c.4930A>C (p.Ile1644Leu)
c.5038A>C (p.Ile1680Leu)
n.11396A>C
n.11387A>C
10g.53806698T=CA1910756016PCDH15c.3963A=
c.5104A= (p.Ile1702=)
c.4915A= (p.Ile1639=)
c.4912A= (p.Ile1638=)
c.1132A= (p.Ile378=)
c.4927A= (p.Ile1643=)
c.4909A= (p.Ile1637=)
c.1264A= (p.Ile422=)
c.4930A= (p.Ile1644=)
c.5038A= (p.Ile1680=)
n.11396A=
n.11387A=
10g.53806699C>ACA376516020PCDH15c.3962G>T
c.5103G>T (p.Met1701Ile)
c.4914G>T (p.Met1638Ile)
c.4911G>T (p.Met1637Ile)
c.1131G>T (p.Met377Ile)
c.4926G>T (p.Met1642Ile)
c.4908G>T (p.Met1636Ile)
c.1263G>T (p.Met421Ile)
c.4929G>T (p.Met1643Ile)
c.5037G>T (p.Met1679Ile)
n.11395G>T
n.11386G>T
10g.53806699C=CA1910756019PCDH15c.3962G=
c.5103G= (p.Met1701=)
c.4914G= (p.Met1638=)
c.4911G= (p.Met1637=)
c.1131G= (p.Met377=)
c.4926G= (p.Met1642=)
c.4908G= (p.Met1636=)
c.1263G= (p.Met421=)
c.4929G= (p.Met1643=)
c.5037G= (p.Met1679=)
n.11395G=
n.11386G=
10g.53806699C>GCA376516021PCDH15c.3962G>C
c.5103G>C (p.Met1701Ile)
c.4914G>C (p.Met1638Ile)
c.4911G>C (p.Met1637Ile)
c.1131G>C (p.Met377Ile)
c.4926G>C (p.Met1642Ile)
c.4908G>C (p.Met1636Ile)
c.1263G>C (p.Met421Ile)
c.4929G>C (p.Met1643Ile)
c.5037G>C (p.Met1679Ile)
n.11395G>C
n.11386G>C
10g.53806699C>TCA207195798PCDH15c.3962G>A
c.5103G>A (p.Met1701Ile)
c.4914G>A (p.Met1638Ile)
c.4911G>A (p.Met1637Ile)
c.1131G>A (p.Met377Ile)
c.4926G>A (p.Met1642Ile)
c.4908G>A (p.Met1636Ile)
c.1263G>A (p.Met421Ile)
c.4929G>A (p.Met1643Ile)
c.5037G>A (p.Met1679Ile)
n.11395G>A
n.11386G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.53806700A=CA1910756024PCDH15c.3961T=
c.5102T= (p.Met1701=)
c.4913T= (p.Met1638=)
c.4910T= (p.Met1637=)
c.1130T= (p.Met377=)
c.4925T= (p.Met1642=)
c.4907T= (p.Met1636=)
c.1262T= (p.Met421=)
c.4928T= (p.Met1643=)
c.5036T= (p.Met1679=)
n.11394T=
n.11385T=
10g.53806700A>CCA376516023PCDH15c.3961T>G
c.5102T>G (p.Met1701Arg)
c.4913T>G (p.Met1638Arg)
c.4910T>G (p.Met1637Arg)
c.1130T>G (p.Met377Arg)
c.4925T>G (p.Met1642Arg)
c.4907T>G (p.Met1636Arg)
c.1262T>G (p.Met421Arg)
c.4928T>G (p.Met1643Arg)
c.5036T>G (p.Met1679Arg)
n.11394T>G
n.11385T>G
10g.53806700A>GCA376516025PCDH15c.3961T>C
c.5102T>C (p.Met1701Thr)
c.4913T>C (p.Met1638Thr)
c.4910T>C (p.Met1637Thr)
c.1130T>C (p.Met377Thr)
c.4925T>C (p.Met1642Thr)
c.4907T>C (p.Met1636Thr)
c.1262T>C (p.Met421Thr)
c.4928T>C (p.Met1643Thr)
c.5036T>C (p.Met1679Thr)
n.11394T>C
n.11385T>C
 dbSNP
10g.53806700A>TCA376516026PCDH15c.3961T>A
c.5102T>A (p.Met1701Lys)
c.4913T>A (p.Met1638Lys)
c.4910T>A (p.Met1637Lys)
c.1130T>A (p.Met377Lys)
c.4925T>A (p.Met1642Lys)
c.4907T>A (p.Met1636Lys)
c.1262T>A (p.Met421Lys)
c.4928T>A (p.Met1643Lys)
c.5036T>A (p.Met1679Lys)
n.11394T>A
n.11385T>A
10g.53806701T>ACA376516028PCDH15c.3960A>T
c.5101A>T (p.Met1701Leu)
c.4912A>T (p.Met1638Leu)
c.4909A>T (p.Met1637Leu)
c.1129A>T (p.Met377Leu)
c.4924A>T (p.Met1642Leu)
c.4906A>T (p.Met1636Leu)
c.1261A>T (p.Met421Leu)
c.4927A>T (p.Met1643Leu)
c.5035A>T (p.Met1679Leu)
n.11393A>T
n.11384A>T
10g.53806701T>CCA5504513PCDH15c.3960A>G
c.5101A>G (p.Met1701Val)
c.4912A>G (p.Met1638Val)
c.4909A>G (p.Met1637Val)
c.1129A>G (p.Met377Val)
c.4924A>G (p.Met1642Val)
c.4906A>G (p.Met1636Val)
c.1261A>G (p.Met421Val)
c.4927A>G (p.Met1643Val)
c.5035A>G (p.Met1679Val)
n.11393A>G
n.11384A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.53806701T>GCA376516030PCDH15c.3960A>C
c.5101A>C (p.Met1701Leu)
c.4912A>C (p.Met1638Leu)
c.4909A>C (p.Met1637Leu)
c.1129A>C (p.Met377Leu)
c.4924A>C (p.Met1642Leu)
c.4906A>C (p.Met1636Leu)
c.1261A>C (p.Met421Leu)
c.4927A>C (p.Met1643Leu)
c.5035A>C (p.Met1679Leu)
n.11393A>C
n.11384A>C
10g.53806701T=CA1910756027PCDH15c.3960A=
c.5101A= (p.Met1701=)
c.4912A= (p.Met1638=)
c.4909A= (p.Met1637=)
c.1129A= (p.Met377=)
c.4924A= (p.Met1642=)
c.4906A= (p.Met1636=)
c.1261A= (p.Met421=)
c.4927A= (p.Met1643=)
c.5035A= (p.Met1679=)
n.11393A=
n.11384A=
10g.53806702G>ACA469545853PCDH15c.3959C>T
c.5100C>T (p.Ser1700=)
c.4911C>T (p.Ser1637=)
c.4908C>T (p.Ser1636=)
c.1128C>T (p.Ser376=)
c.4923C>T (p.Ser1641=)
c.4905C>T (p.Ser1635=)
c.1260C>T (p.Ser420=)
c.4926C>T (p.Ser1642=)
c.5034C>T (p.Ser1678=)
n.11392C>T
n.11383C>T
 gnomAD v4
10g.53806702G>CCA469545855PCDH15c.3959C>G
c.5100C>G (p.Ser1700=)
c.4911C>G (p.Ser1637=)
c.4908C>G (p.Ser1636=)
c.1128C>G (p.Ser376=)
c.4923C>G (p.Ser1641=)
c.4905C>G (p.Ser1635=)
c.1260C>G (p.Ser420=)
c.4926C>G (p.Ser1642=)
c.5034C>G (p.Ser1678=)
n.11392C>G
n.11383C>G
 dbSNP
10g.53806702G=CA1910756028PCDH15c.3959C=
c.5100C= (p.Ser1700=)
c.4911C= (p.Ser1637=)
c.4908C= (p.Ser1636=)
c.1128C= (p.Ser376=)
c.4923C= (p.Ser1641=)
c.4905C= (p.Ser1635=)
c.1260C= (p.Ser420=)
c.4926C= (p.Ser1642=)
c.5034C= (p.Ser1678=)
n.11392C=
n.11383C=
10g.53806702G>TCA469545854PCDH15c.3959C>A
c.5100C>A (p.Ser1700=)
c.4911C>A (p.Ser1637=)
c.4908C>A (p.Ser1636=)
c.1128C>A (p.Ser376=)
c.4923C>A (p.Ser1641=)
c.4905C>A (p.Ser1635=)
c.1260C>A (p.Ser420=)
c.4926C>A (p.Ser1642=)
c.5034C>A (p.Ser1678=)
n.11392C>A
n.11383C>A
10g.53806703G>ACA376516032PCDH15c.3958C>T
c.5099C>T (p.Ser1700Phe)
c.4910C>T (p.Ser1637Phe)
c.4907C>T (p.Ser1636Phe)
c.1127C>T (p.Ser376Phe)
c.4922C>T (p.Ser1641Phe)
c.4904C>T (p.Ser1635Phe)
c.1259C>T (p.Ser420Phe)
c.4925C>T (p.Ser1642Phe)
c.5033C>T (p.Ser1678Phe)
n.11391C>T
n.11382C>T
10g.53806703G>CCA376516034PCDH15c.3958C>G
c.5099C>G (p.Ser1700Cys)
c.4910C>G (p.Ser1637Cys)
c.4907C>G (p.Ser1636Cys)
c.1127C>G (p.Ser376Cys)
c.4922C>G (p.Ser1641Cys)
c.4904C>G (p.Ser1635Cys)
c.1259C>G (p.Ser420Cys)
c.4925C>G (p.Ser1642Cys)
c.5033C>G (p.Ser1678Cys)
n.11391C>G
n.11382C>G
10g.53806703G>TCA376516035PCDH15c.3958C>A
c.5099C>A (p.Ser1700Tyr)
c.4910C>A (p.Ser1637Tyr)
c.4907C>A (p.Ser1636Tyr)
c.1127C>A (p.Ser376Tyr)
c.4922C>A (p.Ser1641Tyr)
c.4904C>A (p.Ser1635Tyr)
c.1259C>A (p.Ser420Tyr)
c.4925C>A (p.Ser1642Tyr)
c.5033C>A (p.Ser1678Tyr)
n.11391C>A
n.11382C>A
10g.53806704A=CA1910756031PCDH15c.3957T=
c.5098T= (p.Ser1700=)
c.4909T= (p.Ser1637=)
c.4906T= (p.Ser1636=)
c.1126T= (p.Ser376=)
c.4921T= (p.Ser1641=)
c.4903T= (p.Ser1635=)
c.1258T= (p.Ser420=)
c.4924T= (p.Ser1642=)
c.5032T= (p.Ser1678=)
n.11390T=
n.11381T=
10g.53806704A>CCA376516039PCDH15c.3957T>G
c.5098T>G (p.Ser1700Ala)
c.4909T>G (p.Ser1637Ala)
c.4906T>G (p.Ser1636Ala)
c.1126T>G (p.Ser376Ala)
c.4921T>G (p.Ser1641Ala)
c.4903T>G (p.Ser1635Ala)
c.1258T>G (p.Ser420Ala)
c.4924T>G (p.Ser1642Ala)
c.5032T>G (p.Ser1678Ala)
n.11390T>G
n.11381T>G
10g.53806704A>GCA376516040PCDH15c.3957T>C
c.5098T>C (p.Ser1700Pro)
c.4909T>C (p.Ser1637Pro)
c.4906T>C (p.Ser1636Pro)
c.1126T>C (p.Ser376Pro)
c.4921T>C (p.Ser1641Pro)
c.4903T>C (p.Ser1635Pro)
c.1258T>C (p.Ser420Pro)
c.4924T>C (p.Ser1642Pro)
c.5032T>C (p.Ser1678Pro)
n.11390T>C
n.11381T>C
10g.53806704A>TCA207195804PCDH15c.3957T>A
c.5098T>A (p.Ser1700Thr)
c.4909T>A (p.Ser1637Thr)
c.4906T>A (p.Ser1636Thr)
c.1126T>A (p.Ser376Thr)
c.4921T>A (p.Ser1641Thr)
c.4903T>A (p.Ser1635Thr)
c.1258T>A (p.Ser420Thr)
c.4924T>A (p.Ser1642Thr)
c.5032T>A (p.Ser1678Thr)
n.11390T>A
n.11381T>A
 dbSNP gnomAD v4
10g.53806705C>ACA376516042PCDH15c.3956G>T
c.5097G>T (p.Glu1699Asp)
c.4908G>T (p.Glu1636Asp)
c.4905G>T (p.Glu1635Asp)
c.1125G>T (p.Glu375Asp)
c.4920G>T (p.Glu1640Asp)
c.4902G>T (p.Glu1634Asp)
c.1257G>T (p.Glu419Asp)
c.4923G>T (p.Glu1641Asp)
c.5031G>T (p.Glu1677Asp)
n.11389G>T
n.11380G>T
 gnomAD v4
10g.53806705C>GCA376516044PCDH15c.3956G>C
c.5097G>C (p.Glu1699Asp)
c.4908G>C (p.Glu1636Asp)
c.4905G>C (p.Glu1635Asp)
c.1125G>C (p.Glu375Asp)
c.4920G>C (p.Glu1640Asp)
c.4902G>C (p.Glu1634Asp)
c.1257G>C (p.Glu419Asp)
c.4923G>C (p.Glu1641Asp)
c.5031G>C (p.Glu1677Asp)
n.11389G>C
n.11380G>C
10g.53806705C>TCA469545856PCDH15c.3956G>A
c.5097G>A (p.Glu1699=)
c.4908G>A (p.Glu1636=)
c.4905G>A (p.Glu1635=)
c.1125G>A (p.Glu375=)
c.4920G>A (p.Glu1640=)
c.4902G>A (p.Glu1634=)
c.1257G>A (p.Glu419=)
c.4923G>A (p.Glu1641=)
c.5031G>A (p.Glu1677=)
n.11389G>A
n.11380G>A
10g.53806707_53806709delCA2574549911PCDH15c.3954_3956del
c.5095_5097del (p.Glu1699del)
c.4906_4908del (p.Glu1636del)
c.4903_4905del (p.Glu1635del)
c.1123_1125del (p.Glu375del)
c.4918_4920del (p.Glu1640del)
c.4900_4902del (p.Glu1634del)
c.1255_1257del (p.Glu419del)
c.4921_4923del (p.Glu1641del)
c.5029_5031del (p.Glu1677del)
n.11387_11389del
n.11378_11380del
10g.53806706T>ACA376516046PCDH15c.3955A>T
c.5096A>T (p.Glu1699Val)
c.4907A>T (p.Glu1636Val)
c.4904A>T (p.Glu1635Val)
c.1124A>T (p.Glu375Val)
c.4919A>T (p.Glu1640Val)
c.4901A>T (p.Glu1634Val)
c.1256A>T (p.Glu419Val)
c.4922A>T (p.Glu1641Val)
c.5030A>T (p.Glu1677Val)
n.11388A>T
n.11379A>T
10g.53806706T>CCA376516047PCDH15c.3955A>G
c.5096A>G (p.Glu1699Gly)
c.4907A>G (p.Glu1636Gly)
c.4904A>G (p.Glu1635Gly)
c.1124A>G (p.Glu375Gly)
c.4919A>G (p.Glu1640Gly)
c.4901A>G (p.Glu1634Gly)
c.1256A>G (p.Glu419Gly)
c.4922A>G (p.Glu1641Gly)
c.5030A>G (p.Glu1677Gly)
n.11388A>G
n.11379A>G
10g.53806706T>GCA376516048PCDH15c.3955A>C
c.5096A>C (p.Glu1699Ala)
c.4907A>C (p.Glu1636Ala)
c.4904A>C (p.Glu1635Ala)
c.1124A>C (p.Glu375Ala)
c.4919A>C (p.Glu1640Ala)
c.4901A>C (p.Glu1634Ala)
c.1256A>C (p.Glu419Ala)
c.4922A>C (p.Glu1641Ala)
c.5030A>C (p.Glu1677Ala)
n.11388A>C
n.11379A>C

Number of alleles fetched