| X | g.100407775_100407789del | CA2499226256 | PCDH19 | c.811_825del (p.Gly271_Tyr275del)
| ClinVar dbSNP |
| X | g.100407785G>A | CA517748076 | PCDH19 | c.813C>T (p.Gly271=)
| |
| X | g.100407785G>C | CA517748074 | PCDH19 | c.813C>G (p.Gly271=)
| |
| X | g.100407785G>T | CA517748073 | PCDH19 | c.813C>A (p.Gly271=)
| |
| X | g.100407786C>A | CA414007979 | PCDH19 | c.812G>T (p.Gly271Val)
| ClinVar dbSNP |
| X | g.100407786C>G | CA414007981 | PCDH19 | c.812G>C (p.Gly271Ala)
| |
| X | g.100407786C>T | CA414007984 | PCDH19 | c.812G>A (p.Gly271Asp)
| COSMIC |
| X | g.100407787C>A | CA414007992 | PCDH19 | c.811G>T (p.Gly271Cys)
| |
| X | g.100407787C= | CA2447976862 | PCDH19 | c.811G= (p.Gly271=)
| |
| X | g.100407787C>G | CA414007987 | PCDH19 | c.811G>C (p.Gly271Arg)
| |
| X | g.100407787C>T | CA414007989 | PCDH19 | c.811G>A (p.Gly271Ser)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407788G>A | CA517748082 | PCDH19 | c.810C>T (p.Asn270=)
| ClinVar dbSNP |
| X | g.100407788G>C | CA414007994 | PCDH19 | c.810C>G (p.Asn270Lys)
| ClinVar |
| X | g.100407788G>T | CA414007996 | PCDH19 | c.810C>A (p.Asn270Lys)
| |
| X | g.100407790_100407793dup | CA2499226257 | PCDH19 | c.807_810dup (p.Gly271GlnfsTer?)
| ClinVar dbSNP |
| X | g.100407789T>A | CA414007998 | PCDH19 | c.809A>T (p.Asn270Ile)
| |
| X | g.100407789T>C | CA10468949 | PCDH19 | c.809A>G (p.Asn270Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407789T>G | CA414008000 | PCDH19 | c.809A>C (p.Asn270Thr)
| |
| X | g.100407789T= | CA2447976863 | PCDH19 | c.809A= (p.Asn270=)
| |
| X | g.100407790del | CA2525078344 | PCDH19 | c.809del (p.Asn270ThrfsTer?)
| |
| X | g.100407790T>A | CA414008003 | PCDH19 | c.808A>T (p.Asn270Tyr)
| |
| X | g.100407790T>C | CA10468950 | PCDH19 | c.808A>G (p.Asn270Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407790T>G | CA414008006 | PCDH19 | c.808A>C (p.Asn270His)
| |
| X | g.100407790T= | CA2447976864 | PCDH19 | c.808A= (p.Asn270=)
| |
| X | g.100407791G>A | CA517748089 | PCDH19 | c.807C>T (p.Thr269=)
| |
| X | g.100407791G>C | CA517748091 | PCDH19 | c.807C>G (p.Thr269=)
| |
| X | g.100407791G= | CA2447976865 | PCDH19 | c.807C= (p.Thr269=)
| |
| X | g.100407791G>T | CA517748095 | PCDH19 | c.807C>A (p.Thr269=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407792del | CA2579659316 | PCDH19 | c.807del (p.Asn270ThrfsTer?)
| |
| X | g.100407792G>A | CA414008009 | PCDH19 | c.806C>T (p.Thr269Ile)
| dbSNP |
| X | g.100407792G>C | CA414008011 | PCDH19 | c.806C>G (p.Thr269Ser)
| |
| X | g.100407792G= | CA2447976867 | PCDH19 | c.806C= (p.Thr269=)
| |
| X | g.100407792G>T | CA414008013 | PCDH19 | c.806C>A (p.Thr269Asn)
| |
| X | g.100407792_100407793delinsGT | CA2447976866 | PCDH19 | c.805_806delinsAC (p.Thr269=)
| |
| X | g.100407793del | CA316400 | PCDH19 | c.805del (p.Thr269ProfsTer?)
| ClinVar dbSNP |
| X | g.100407793T>A | CA414008015 | PCDH19 | c.805A>T (p.Thr269Ser)
| |
| X | g.100407793T>C | CA414008018 | PCDH19 | c.805A>G (p.Thr269Ala)
| |
| X | g.100407793T>G | CA414008020 | PCDH19 | c.805A>C (p.Thr269Pro)
| |
| X | g.100407794G>A | CA517748107 | PCDH19 | c.804C>T (p.Gly268=)
| ClinVar gnomAD v4 |
| X | g.100407794G>C | CA517748105 | PCDH19 | c.804C>G (p.Gly268=)
| |
| X | g.100407794G>T | CA517748106 | PCDH19 | c.804C>A (p.Gly268=)
| |
| X | g.100407795C>A | CA414008024 | PCDH19 | c.803G>T (p.Gly268Val)
| |
| X | g.100407795C>G | CA414008028 | PCDH19 | c.803G>C (p.Gly268Ala)
| |
| X | g.100407795C>T | CA414008026 | PCDH19 | c.803G>A (p.Gly268Asp)
| COSMIC |
| X | g.100407796C>A | CA414008031 | PCDH19 | c.802G>T (p.Gly268Cys)
| |
| X | g.100407796C= | CA2447976868 | PCDH19 | c.802G= (p.Gly268=)
| |
| X | g.100407796C>G | CA414008033 | PCDH19 | c.802G>C (p.Gly268Arg)
| |
| X | g.100407796C>T | CA414008035 | PCDH19 | c.802G>A (p.Gly268Ser)
| dbSNP |
| X | g.100407797_100407799del | CA2697553224 | PCDH19 | c.800_802del (p.Glu267del)
| ClinVar |
| X | g.100407797C>A | CA414008038 | PCDH19 | c.801G>T (p.Glu267Asp)
| |
| X | g.100407797C>G | CA414008041 | PCDH19 | c.801G>C (p.Glu267Asp)
| |
| X | g.100407797C>T | CA517748115 | PCDH19 | c.801G>A (p.Glu267=)
| gnomAD v4 |
| X | g.100407798T>A | CA414008044 | PCDH19 | c.800A>T (p.Glu267Val)
| |
| X | g.100407798T>C | CA414008046 | PCDH19 | c.800A>G (p.Glu267Gly)
| |
| X | g.100407798T>G | CA414008048 | PCDH19 | c.800A>C (p.Glu267Ala)
| |
| X | g.100407799C>A | CA16608690 | PCDH19 | c.799G>T (p.Glu267Ter)
| ClinVar dbSNP |
| X | g.100407799C= | CA2447976869 | PCDH19 | c.799G= (p.Glu267=)
| |
| X | g.100407799C>G | CA414008055 | PCDH19 | c.799G>C (p.Glu267Gln)
| |
| X | g.100407799C>T | CA414008058 | PCDH19 | c.799G>A (p.Glu267Lys)
| ClinVar dbSNP |
| X | g.100407800G>A | CA10468951 | PCDH19 | c.798C>T (p.Asp266=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407800G>C | CA414008063 | PCDH19 | c.798C>G (p.Asp266Glu)
| ClinVar dbSNP |
| X | g.100407800G= | CA2447976870 | PCDH19 | c.798C= (p.Asp266=)
| |
| X | g.100407800G>T | CA414008061 | PCDH19 | c.798C>A (p.Asp266Glu)
| |
| X | g.100407801T>A | CA414008071 | PCDH19 | c.797A>T (p.Asp266Val)
| |
| X | g.100407801T>C | CA414008067 | PCDH19 | c.797A>G (p.Asp266Gly)
| |
| X | g.100407801T>G | CA414008069 | PCDH19 | c.797A>C (p.Asp266Ala)
| |
| X | g.100407802C>A | CA414008073 | PCDH19 | c.796G>T (p.Asp266Tyr)
| |
| X | g.100407802C>G | CA414008075 | PCDH19 | c.796G>C (p.Asp266His)
| |
| X | g.100407802C>T | CA414008077 | PCDH19 | c.796G>A (p.Asp266Asn)
| |
| X | g.100407803T>A | CA517748128 | PCDH19 | c.795A>T (p.Pro265=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407803T>C | CA517748127 | PCDH19 | c.795A>G (p.Pro265=)
| dbSNP gnomAD v4 |
| X | g.100407803T>G | CA517748125 | PCDH19 | c.795A>C (p.Pro265=)
| |
| X | g.100407803T= | CA2447976871 | PCDH19 | c.795A= (p.Pro265=)
| |
| X | g.100407804G>A | CA414008086 | PCDH19 | c.794C>T (p.Pro265Leu)
| |
| X | g.100407804G>C | CA414008084 | PCDH19 | c.794C>G (p.Pro265Arg)
| |
| X | g.100407804G>T | CA414008081 | PCDH19 | c.794C>A (p.Pro265Gln)
| |
| X | g.100407805G>A | CA414008088 | PCDH19 | c.793C>T (p.Pro265Ser)
| ClinVar |
| X | g.100407805G>C | CA414008091 | PCDH19 | c.793C>G (p.Pro265Ala)
| |
| X | g.100407805G>T | CA414008093 | PCDH19 | c.793C>A (p.Pro265Thr)
| |
| X | g.100407806A= | CA2447976872 | PCDH19 | c.792T= (p.Asp264=)
| |
| X | g.100407806A>C | CA414008095 | PCDH19 | c.792T>G (p.Asp264Glu)
| ClinVar dbSNP |
| X | g.100407806A>G | CA10468952 | PCDH19 | c.792T>C (p.Asp264=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407806A>T | CA414008096 | PCDH19 | c.792T>A (p.Asp264Glu)
| |
| X | g.100407807T>A | CA414008099 | PCDH19 | c.791A>T (p.Asp264Val)
| |
| X | g.100407807T>C | CA414008105 | PCDH19 | c.791A>G (p.Asp264Gly)
| |
| X | g.100407807T>G | CA414008102 | PCDH19 | c.791A>C (p.Asp264Ala)
| |
| X | g.100407808C>A | CA172968 | PCDH19 | c.790G>T (p.Asp264Tyr)
| ClinVar dbSNP |
| X | g.100407808C= | CA2447976873 | PCDH19 | c.790G= (p.Asp264=)
| |
| X | g.100407808C>G | CA414008109 | PCDH19 | c.790G>C (p.Asp264His)
| ClinVar dbSNP |
| X | g.100407808C>T | CA414008111 | PCDH19 | c.790G>A (p.Asp264Asn)
| |
| X | g.100407809G>A | CA517748142 | PCDH19 | c.789C>T (p.Ser263=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407809G>C | CA414008114 | PCDH19 | c.789C>G (p.Ser263Arg)
| |
| X | g.100407809G= | CA2447976874 | PCDH19 | c.789C= (p.Ser263=)
| |
| X | g.100407809G>T | CA414008116 | PCDH19 | c.789C>A (p.Ser263Arg)
| |
| X | g.100407810C>A | CA414008119 | PCDH19 | c.788G>T (p.Ser263Ile)
| |
| X | g.100407810C>G | CA414008121 | PCDH19 | c.788G>C (p.Ser263Thr)
| |
| X | g.100407810C>T | CA414008123 | PCDH19 | c.788G>A (p.Ser263Asn)
| ClinVar |
| X | g.100407811T>A | CA414008126 | PCDH19 | c.787A>T (p.Ser263Cys)
| |
| X | g.100407811T>C | CA414008128 | PCDH19 | c.787A>G (p.Ser263Gly)
| |
| X | g.100407811T>G | CA414008131 | PCDH19 | c.787A>C (p.Ser263Arg)
| ClinVar COSMIC |
| X | g.100407812G>A | CA517748151 | PCDH19 | c.786C>T (p.Ala262=)
| gnomAD v4 |
| X | g.100407812G>C | CA517748156 | PCDH19 | c.786C>G (p.Ala262=)
| |
| X | g.100407812G>T | CA517748157 | PCDH19 | c.786C>A (p.Ala262=)
| |
| X | g.100407813del | CA2739273666 | PCDH19 | c.786del (p.Ser263AlafsTer?)
| ClinVar |
| X | g.100407813G>A | CA414008136 | PCDH19 | c.785C>T (p.Ala262Val)
| |
| X | g.100407813G>C | CA414008142 | PCDH19 | c.785C>G (p.Ala262Gly)
| |
| X | g.100407813G= | CA2447976875 | PCDH19 | c.785C= (p.Ala262=)
| |
| X | g.100407813G>T | CA414008134 | PCDH19 | c.785C>A (p.Ala262Asp)
| ClinVar dbSNP |
| X | g.100407814C>A | CA10468953 | PCDH19 | c.784G>T (p.Ala262Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407814C= | CA2447976876 | PCDH19 | c.784G= (p.Ala262=)
| |
| X | g.100407814C>G | CA414008150 | PCDH19 | c.784G>C (p.Ala262Pro)
| |
| X | g.100407814C>T | CA414008146 | PCDH19 | c.784G>A (p.Ala262Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407815G>A | CA517748167 | PCDH19 | c.783C>T (p.Asn261=)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407815G>C | CA414008152 | PCDH19 | c.783C>G (p.Asn261Lys)
| |
| X | g.100407815G= | CA2447976877 | PCDH19 | c.783C= (p.Asn261=)
| |
| X | g.100407815G>T | CA414008154 | PCDH19 | c.783C>A (p.Asn261Lys)
| |
| X | g.100407816T>A | CA414008156 | PCDH19 | c.782A>T (p.Asn261Ile)
| |
| X | g.100407816T>C | CA414008159 | PCDH19 | c.782A>G (p.Asn261Ser)
| |
| X | g.100407816T>G | CA414008161 | PCDH19 | c.782A>C (p.Asn261Thr)
| |
| X | g.100407817T>A | CA414008163 | PCDH19 | c.781A>T (p.Asn261Tyr)
| |
| X | g.100407817T>C | CA414008165 | PCDH19 | c.781A>G (p.Asn261Asp)
| |
| X | g.100407817T>G | CA414008168 | PCDH19 | c.781A>C (p.Asn261His)
| |
| X | g.100407818G>A | CA517748176 | PCDH19 | c.780C>T (p.Leu260=)
| |
| X | g.100407818G>C | CA517748177 | PCDH19 | c.780C>G (p.Leu260=)
| |
| X | g.100407818G>T | CA517748178 | PCDH19 | c.780C>A (p.Leu260=)
| |
| X | g.100407819A= | CA2447976878 | PCDH19 | c.779T= (p.Leu260=)
| |
| X | g.100407819A>C | CA414008170 | PCDH19 | c.779T>G (p.Leu260Arg)
| ClinVar dbSNP |
| X | g.100407819A>G | CA414008173 | PCDH19 | c.779T>C (p.Leu260Pro)
| |
| X | g.100407819A>T | CA414008175 | PCDH19 | c.779T>A (p.Leu260His)
| |
| X | g.100407820G>A | CA414008183 | PCDH19 | c.778C>T (p.Leu260Phe)
| |
| X | g.100407820G>C | CA414008181 | PCDH19 | c.778C>G (p.Leu260Val)
| ClinVar |
| X | g.100407820G>T | CA414008179 | PCDH19 | c.778C>A (p.Leu260Ile)
| |
| X | g.100407821G>A | CA10468955 | PCDH19 | c.777C>T (p.Arg259=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407821G>C | CA10468954 | PCDH19 | c.777C>G (p.Arg259=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.100407821G= | CA2447976879 | PCDH19 | c.777C= (p.Arg259=)
| |
| X | g.100407821G>T | CA517748189 | PCDH19 | c.777C>A (p.Arg259=)
| |
| X | g.100407822C>A | CA414008189 | PCDH19 | c.776G>T (p.Arg259Leu)
| |
| X | g.100407822C>G | CA414008191 | PCDH19 | c.776G>C (p.Arg259Pro)
| |
| X | g.100407822C>T | CA414008193 | PCDH19 | c.776G>A (p.Arg259His)
| dbSNP |
| X | g.100407823G>A | CA414008195 | PCDH19 | c.775C>T (p.Arg259Cys)
| gnomAD v4 |
| X | g.100407823G>C | CA414008197 | PCDH19 | c.775C>G (p.Arg259Gly)
| |
| X | g.100407823G>T | CA414008200 | PCDH19 | c.775C>A (p.Arg259Ser)
| |
| X | g.100407824G>A | CA517748196 | PCDH19 | c.774C>T (p.Ile258=)
| |
| X | g.100407824G>C | CA414008202 | PCDH19 | c.774C>G (p.Ile258Met)
| |
| X | g.100407824G= | CA2447976880 | PCDH19 | c.774C= (p.Ile258=)
| |
| X | g.100407824G>T | CA517748197 | PCDH19 | c.774C>A (p.Ile258=)
| dbSNP |
| X | g.100407825A>C | CA414008206 | PCDH19 | c.773T>G (p.Ile258Ser)
| |
| X | g.100407825A>G | CA414008208 | PCDH19 | c.773T>C (p.Ile258Thr)
| |
| X | g.100407825A>T | CA414008210 | PCDH19 | c.773T>A (p.Ile258Asn)
| |
| X | g.100407825_100407826del | CA2695234725 | PCDH19 | c.772_773del (p.Ile258ProfsTer?)
| |
| X | g.100407826T>A | CA414008217 | PCDH19 | c.772A>T (p.Ile258Phe)
| |
| X | g.100407826T>C | CA414008215 | PCDH19 | c.772A>G (p.Ile258Val)
| |
| X | g.100407826T>G | CA414008213 | PCDH19 | c.772A>C (p.Ile258Leu)
| |
| X | g.100407827G>A | CA517748204 | PCDH19 | c.771C>T (p.Val257=)
| gnomAD v4 |
| X | g.100407827G>C | CA517748205 | PCDH19 | c.771C>G (p.Val257=)
| |
| X | g.100407827G>T | CA517748206 | PCDH19 | c.771C>A (p.Val257=)
| |
| X | g.100407828A>C | CA414008223 | PCDH19 | c.770T>G (p.Val257Gly)
| |
| X | g.100407828A>G | CA414008219 | PCDH19 | c.770T>C (p.Val257Ala)
| |
| X | g.100407828A>T | CA414008220 | PCDH19 | c.770T>A (p.Val257Asp)
| |
| X | g.100407829C>A | CA414008225 | PCDH19 | c.769G>T (p.Val257Phe)
| |
| X | g.100407829C= | CA2447976881 | PCDH19 | c.769G= (p.Val257=)
| |
| X | g.100407829C>G | CA238710 | PCDH19 | c.769G>C (p.Val257Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407829C>T | CA414008229 | PCDH19 | c.769G>A (p.Val257Ile)
| gnomAD v4 COSMIC |
| X | g.100407830G>A | CA10468956 | PCDH19 | c.768C>T (p.Pro256=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407830G>C | CA517748214 | PCDH19 | c.768C>G (p.Pro256=)
| dbSNP gnomAD v4 |
| X | g.100407830G= | CA2447976882 | PCDH19 | c.768C= (p.Pro256=)
| |
| X | g.100407830G>T | CA517748215 | PCDH19 | c.768C>A (p.Pro256=)
| |
| X | g.100407832dup | CA891843596 | PCDH19 | c.768dup (p.Val257ArgfsTer?)
| ClinVar dbSNP |
| X | g.100407831G>A | CA414008233 | PCDH19 | c.767C>T (p.Pro256Leu)
| gnomAD v4 |
| X | g.100407831G>C | CA414008235 | PCDH19 | c.767C>G (p.Pro256Arg)
| |
| X | g.100407831G>T | CA414008238 | PCDH19 | c.767C>A (p.Pro256His)
| |
| X | g.100407832G>A | CA414008241 | PCDH19 | c.766C>T (p.Pro256Ser)
| |
| X | g.100407832G>C | CA414008243 | PCDH19 | c.766C>G (p.Pro256Ala)
| |
| X | g.100407832G= | CA2447976883 | PCDH19 | c.766C= (p.Pro256=)
| |
| X | g.100407832G>T | CA414008246 | PCDH19 | c.766C>A (p.Pro256Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407833T>A | CA517748217 | PCDH19 | c.765A>T (p.Thr255=)
| |
| X | g.100407833T>C | CA517748219 | PCDH19 | c.765A>G (p.Thr255=)
| ClinVar dbSNP |
| X | g.100407833T>G | CA517748221 | PCDH19 | c.765A>C (p.Thr255=)
| |
| X | g.100407834G>A | CA414008250 | PCDH19 | c.764C>T (p.Thr255Ile)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407834G>C | CA414008252 | PCDH19 | c.764C>G (p.Thr255Arg)
| |
| X | g.100407834G= | CA2447976884 | PCDH19 | c.764C= (p.Thr255=)
| |
| X | g.100407834G>T | CA414008249 | PCDH19 | c.764C>A (p.Thr255Lys)
| |
| X | g.100407835T>A | CA414008255 | PCDH19 | c.763A>T (p.Thr255Ser)
| |
| X | g.100407835T>C | CA414008258 | PCDH19 | c.763A>G (p.Thr255Ala)
| |
| X | g.100407835T>G | CA414008260 | PCDH19 | c.763A>C (p.Thr255Pro)
| |
| X | g.100407836G>A | CA517748225 | PCDH19 | c.762C>T (p.Asn254=)
| |
| X | g.100407836G>C | CA414008263 | PCDH19 | c.762C>G (p.Asn254Lys)
| |
| X | g.100407836G>T | CA414008265 | PCDH19 | c.762C>A (p.Asn254Lys)
| ClinVar |
| X | g.100407837T>A | CA414008273 | PCDH19 | c.761A>T (p.Asn254Ile)
| |
| X | g.100407837T>C | CA414008268 | PCDH19 | c.761A>G (p.Asn254Ser)
| |
| X | g.100407837T>G | CA414008270 | PCDH19 | c.761A>C (p.Asn254Thr)
| |
| X | g.100407838T>A | CA414008276 | PCDH19 | c.760A>T (p.Asn254Tyr)
| |
| X | g.100407838T>C | CA414008278 | PCDH19 | c.760A>G (p.Asn254Asp)
| |
| X | g.100407838T>G | CA414008281 | PCDH19 | c.760A>C (p.Asn254His)
| |
| X | g.100407839G>A | CA517748229 | PCDH19 | c.759C>T (p.Pro253=)
| |
| X | g.100407839G>C | CA517748230 | PCDH19 | c.759C>G (p.Pro253=)
| |
| X | g.100407839G>T | CA517748231 | PCDH19 | c.759C>A (p.Pro253=)
| |
| X | g.100407840G>A | CA414008283 | PCDH19 | c.758C>T (p.Pro253Leu)
| dbSNP |
| X | g.100407840G>C | CA414008285 | PCDH19 | c.758C>G (p.Pro253Arg)
| |
| X | g.100407840G= | CA2447976885 | PCDH19 | c.758C= (p.Pro253=)
| |
| X | g.100407840G>T | CA10468957 | PCDH19 | c.758C>A (p.Pro253His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407842_100407844del | CA2822656801 | PCDH19 | c.756_758del (p.Pro253del)
| |
| X | g.100407841G>A | CA414008292 | PCDH19 | c.757C>T (p.Pro253Ser)
| |
| X | g.100407841G>C | CA414008294 | PCDH19 | c.757C>G (p.Pro253Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407841G= | CA2447976886 | PCDH19 | c.757C= (p.Pro253=)
| |
| X | g.100407841G>T | CA414008290 | PCDH19 | c.757C>A (p.Pro253Thr)
| |
| X | g.100407842A>C | CA517748241 | PCDH19 | c.756T>G (p.Pro252=)
| gnomAD v4 |
| X | g.100407842A>G | CA517748243 | PCDH19 | c.756T>C (p.Pro252=)
| |
| X | g.100407842A>T | CA517748244 | PCDH19 | c.756T>A (p.Pro252=)
| |
| X | g.100407843G>A | CA414008297 | PCDH19 | c.755C>T (p.Pro252Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407843G>C | CA414008300 | PCDH19 | c.755C>G (p.Pro252Arg)
| |
| X | g.100407843G= | CA2447976887 | PCDH19 | c.755C= (p.Pro252=)
| |
| X | g.100407843G>T | CA414008299 | PCDH19 | c.755C>A (p.Pro252His)
| |
| X | g.100407844G>A | CA414008303 | PCDH19 | c.754C>T (p.Pro252Ser)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407844G>C | CA414008305 | PCDH19 | c.754C>G (p.Pro252Ala)
| |
| X | g.100407844G= | CA2447976888 | PCDH19 | c.754C= (p.Pro252=)
| |
| X | g.100407844G>T | CA414008307 | PCDH19 | c.754C>A (p.Pro252Thr)
| |
| X | g.100407845C>A | CA517748252 | PCDH19 | c.753G>T (p.Ser251=)
| gnomAD v4 COSMIC |
| X | g.100407845C= | CA2447976889 | PCDH19 | c.753G= (p.Ser251=)
| |
| X | g.100407845C>G | CA517748256 | PCDH19 | c.753G>C (p.Ser251=)
| |
| X | g.100407845C>T | CA517748258 | PCDH19 | c.753G>A (p.Ser251=)
| dbSNP gnomAD v4 COSMIC |
| X | g.100407846G>A | CA414008310 | PCDH19 | c.752C>T (p.Ser251Leu)
| dbSNP gnomAD v2 |
| X | g.100407846G>C | CA414008312 | PCDH19 | c.752C>G (p.Ser251Trp)
| |
| X | g.100407846G= | CA2447976890 | PCDH19 | c.752C= (p.Ser251=)
| |
| X | g.100407846G>T | CA414008315 | PCDH19 | c.752C>A (p.Ser251Ter)
| ClinVar COSMIC |
| X | g.100407847A= | CA2447976891 | PCDH19 | c.751T= (p.Ser251=)
| |
| X | g.100407847A>C | CA414008318 | PCDH19 | c.751T>G (p.Ser251Ala)
| |
| X | g.100407847A>G | CA414008320 | PCDH19 | c.751T>C (p.Ser251Pro)
| |
| X | g.100407847A>T | CA414008322 | PCDH19 | c.751T>A (p.Ser251Thr)
| dbSNP |
| X | g.100407848G>A | CA517748263 | PCDH19 | c.750C>T (p.Asn250=)
| |
| X | g.100407848G>C | CA316327 | PCDH19 | c.750C>G (p.Asn250Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407848G= | CA2447976892 | PCDH19 | c.750C= (p.Asn250=)
| |
| X | g.100407848G>T | CA414008326 | PCDH19 | c.750C>A (p.Asn250Lys)
| |
| X | g.100407849T>A | CA414008334 | PCDH19 | c.749A>T (p.Asn250Ile)
| |
| X | g.100407849T>C | CA414008332 | PCDH19 | c.749A>G (p.Asn250Ser)
| |
| X | g.100407849T>G | CA414008329 | PCDH19 | c.749A>C (p.Asn250Thr)
| |
| X | g.100407850T>A | CA414008337 | PCDH19 | c.748A>T (p.Asn250Tyr)
| |
| X | g.100407850T>C | CA414008339 | PCDH19 | c.748A>G (p.Asn250Asp)
| |
| X | g.100407850T>G | CA414008342 | PCDH19 | c.748A>C (p.Asn250His)
| |
| X | g.100407851T>A | CA414008344 | PCDH19 | c.747A>T (p.Glu249Asp)
| |
| X | g.100407851T>C | CA517748274 | PCDH19 | c.747A>G (p.Glu249=)
| |
| X | g.100407851T>G | CA414008346 | PCDH19 | c.747A>C (p.Glu249Asp)
| ClinVar dbSNP |
| X | g.100407852T>A | CA414008349 | PCDH19 | c.746A>T (p.Glu249Val)
| |
| X | g.100407852T>C | CA414008351 | PCDH19 | c.746A>G (p.Glu249Gly)
| ClinVar dbSNP |
| X | g.100407852T>G | CA414008353 | PCDH19 | c.746A>C (p.Glu249Ala)
| |
| X | g.100407853del | CA915951274 | PCDH19 | c.745del (p.Glu249LysfsTer?)
| ClinVar |
| X | g.100407853C>A | CA414008356 | PCDH19 | c.745G>T (p.Glu249Ter)
| |
| X | g.100407853C= | CA2447976893 | PCDH19 | c.745G= (p.Glu249=)
| |
| X | g.100407853C>G | CA414008358 | PCDH19 | c.745G>C (p.Glu249Gln)
| ClinVar dbSNP |
| X | g.100407853C>T | CA414008360 | PCDH19 | c.745G>A (p.Glu249Lys)
| |
| X | g.100407854T>A | CA517748278 | PCDH19 | c.744A>T (p.Pro248=)
| |
| X | g.100407854T>C | CA10468958 | PCDH19 | c.744A>G (p.Pro248=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407854T>G | CA517748281 | PCDH19 | c.744A>C (p.Pro248=)
| |
| X | g.100407854T= | CA2447976894 | PCDH19 | c.744A= (p.Pro248=)
| |
| X | g.100407855G>A | CA414008370 | PCDH19 | c.743C>T (p.Pro248Leu)
| |
| X | g.100407855G>C | CA414008367 | PCDH19 | c.743C>G (p.Pro248Arg)
| |
| X | g.100407855G>T | CA414008365 | PCDH19 | c.743C>A (p.Pro248Gln)
| |
| X | g.100407856G>A | CA414008373 | PCDH19 | c.742C>T (p.Pro248Ser)
| |
| X | g.100407856G>C | CA414008375 | PCDH19 | c.742C>G (p.Pro248Ala)
| |
| X | g.100407856G>T | CA414008378 | PCDH19 | c.742C>A (p.Pro248Thr)
| |
| X | g.100407857C>A | CA16608224 | PCDH19 | c.741G>T (p.Val247=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407857C= | CA2447976895 | PCDH19 | c.741G= (p.Val247=)
| |
| X | g.100407857C>G | CA517748284 | PCDH19 | c.741G>C (p.Val247=)
| |
| X | g.100407857C>T | CA517748287 | PCDH19 | c.741G>A (p.Val247=)
| |
| X | g.100407858A>C | CA414008380 | PCDH19 | c.740T>G (p.Val247Gly)
| |
| X | g.100407858A>G | CA414008383 | PCDH19 | c.740T>C (p.Val247Ala)
| |
| X | g.100407858A>T | CA414008384 | PCDH19 | c.740T>A (p.Val247Glu)
| |
| X | g.100407859C>A | CA414008387 | PCDH19 | c.739G>T (p.Val247Leu)
| gnomAD v4 |
| X | g.100407859C= | CA2447976896 | PCDH19 | c.739G= (p.Val247=)
| |
| X | g.100407859C>G | CA414008385 | PCDH19 | c.739G>C (p.Val247Leu)
| COSMIC |
| X | g.100407859C>T | CA414008386 | PCDH19 | c.739G>A (p.Val247Met)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.100407860G>A | CA517748293 | PCDH19 | c.738C>T (p.Ser246=)
| gnomAD v4 COSMIC |
| X | g.100407860G>C | CA414008388 | PCDH19 | c.738C>G (p.Ser246Arg)
| |
| X | g.100407860G>T | CA414008389 | PCDH19 | c.738C>A (p.Ser246Arg)
| |
| X | g.100407861C>A | CA414008390 | PCDH19 | c.737G>T (p.Ser246Ile)
| |
| X | g.100407861C>G | CA414008391 | PCDH19 | c.737G>C (p.Ser246Thr)
| |
| X | g.100407861C>T | CA414008392 | PCDH19 | c.737G>A (p.Ser246Asn)
| |
| X | g.100407862T>A | CA414008393 | PCDH19 | c.736A>T (p.Ser246Cys)
| |
| X | g.100407862T>C | CA414008395 | PCDH19 | c.736A>G (p.Ser246Gly)
| |
| X | g.100407862T>G | CA414008394 | PCDH19 | c.736A>C (p.Ser246Arg)
| |
| X | g.100407863C>A | CA517748296 | PCDH19 | c.735G>T (p.Val245=)
| |
| X | g.100407863C>G | CA517748298 | PCDH19 | c.735G>C (p.Val245=)
| |
| X | g.100407863C>T | CA517748300 | PCDH19 | c.735G>A (p.Val245=)
| ClinVar |
| X | g.100407864A>C | CA414008396 | PCDH19 | c.734T>G (p.Val245Gly)
| |
| X | g.100407864A>G | CA414008397 | PCDH19 | c.734T>C (p.Val245Ala)
| |
| X | g.100407864A>T | CA414008398 | PCDH19 | c.734T>A (p.Val245Glu)
| |
| X | g.100407865C>A | CA414008399 | PCDH19 | c.733G>T (p.Val245Leu)
| |
| X | g.100407865C>G | CA414008400 | PCDH19 | c.733G>C (p.Val245Leu)
| |
| X | g.100407865C>T | CA414008401 | PCDH19 | c.733G>A (p.Val245Met)
| |
| X | g.100407866C>A | CA517748305 | PCDH19 | c.732G>T (p.Ala244=)
| gnomAD v4 |
| X | g.100407866C= | CA2447976897 | PCDH19 | c.732G= (p.Ala244=)
| |
| X | g.100407866C>G | CA517748306 | PCDH19 | c.732G>C (p.Ala244=)
| |
| X | g.100407866C>T | CA10468959 | PCDH19 | c.732G>A (p.Ala244=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407867G>A | CA414008402 | PCDH19 | c.731C>T (p.Ala244Val)
| gnomAD v4 |
| X | g.100407867G>C | CA414008404 | PCDH19 | c.731C>G (p.Ala244Gly)
| |
| X | g.100407867G>T | CA414008406 | PCDH19 | c.731C>A (p.Ala244Glu)
| |
| X | g.100407868C>A | CA414008409 | PCDH19 | c.730G>T (p.Ala244Ser)
| |
| X | g.100407868C>G | CA414008413 | PCDH19 | c.730G>C (p.Ala244Pro)
| |
| X | g.100407868C>T | CA414008411 | PCDH19 | c.730G>A (p.Ala244Thr)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407868dup | CA2695234726 | PCDH19 | c.730dup (p.Ala244GlyfsTer?)
| |
| X | g.100407869G>A | CA517748309 | PCDH19 | c.729C>T (p.Tyr243=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407869G>C | CA414008416 | PCDH19 | c.729C>G (p.Tyr243Ter)
| ClinVar |
| X | g.100407869G= | CA2447976898 | PCDH19 | c.729C= (p.Tyr243=)
| |
| X | g.100407869G>T | CA414008418 | PCDH19 | c.729C>A (p.Tyr243Ter)
| ClinVar dbSNP |
| X | g.100407870T>A | CA414008422 | PCDH19 | c.728A>T (p.Tyr243Phe)
| |
| X | g.100407870T>C | CA414008425 | PCDH19 | c.728A>G (p.Tyr243Cys)
| |
| X | g.100407870T>G | CA414008423 | PCDH19 | c.728A>C (p.Tyr243Ser)
| |
| X | g.100407871A>C | CA414008428 | PCDH19 | c.727T>G (p.Tyr243Asp)
| |
| X | g.100407871A>G | CA414008432 | PCDH19 | c.727T>C (p.Tyr243His)
| |
| X | g.100407871A>T | CA414008430 | PCDH19 | c.727T>A (p.Tyr243Asn)
| |
| X | g.100407872G>A | CA517748326 | PCDH19 | c.726C>T (p.Thr242=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407872G>C | CA517748323 | PCDH19 | c.726C>G (p.Thr242=)
| |
| X | g.100407872G= | CA2447976899 | PCDH19 | c.726C= (p.Thr242=)
| |
| X | g.100407872G>T | CA517748321 | PCDH19 | c.726C>A (p.Thr242=)
| dbSNP |
| X | g.100407873G>A | CA414008436 | PCDH19 | c.725C>T (p.Thr242Ile)
| |
| X | g.100407873G>C | CA414008437 | PCDH19 | c.725C>G (p.Thr242Ser)
| |
| X | g.100407873G>T | CA414008440 | PCDH19 | c.725C>A (p.Thr242Asn)
| |
| X | g.100407874T>A | CA414008443 | PCDH19 | c.724A>T (p.Thr242Ser)
| ClinVar dbSNP gnomAD v4 |
| X | g.100407874T>C | CA414008445 | PCDH19 | c.724A>G (p.Thr242Ala)
| gnomAD v4 |
| X | g.100407874T>G | CA414008447 | PCDH19 | c.724A>C (p.Thr242Pro)
| |
| X | g.100407874T= | CA2447976900 | PCDH19 | c.724A= (p.Thr242=)
| |
| X | g.100407875G>A | CA517748332 | PCDH19 | c.723C>T (p.Ser241=)
| gnomAD v4 |
| X | g.100407875G>C | CA517748336 | PCDH19 | c.723C>G (p.Ser241=)
| |
| X | g.100407875G>T | CA517748338 | PCDH19 | c.723C>A (p.Ser241=)
| |
| X | g.100407876G>A | CA414008450 | PCDH19 | c.722C>T (p.Ser241Phe)
| |
| X | g.100407876G>C | CA414008453 | PCDH19 | c.722C>G (p.Ser241Cys)
| |
| X | g.100407876G= | CA2447976901 | PCDH19 | c.722C= (p.Ser241=)
| |
| X | g.100407876G>T | CA333826087 | PCDH19 | c.722C>A (p.Ser241Tyr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407877A>C | CA414008458 | PCDH19 | c.721T>G (p.Ser241Ala)
| gnomAD v4 |
| X | g.100407877A>G | CA414008460 | PCDH19 | c.721T>C (p.Ser241Pro)
| |
| X | g.100407877A>T | CA414008462 | PCDH19 | c.721T>A (p.Ser241Thr)
| |
| X | g.100407878C>A | CA414008465 | PCDH19 | c.720G>T (p.Glu240Asp)
| |
| X | g.100407878C= | CA2447976902 | PCDH19 | c.720G= (p.Glu240=)
| |
| X | g.100407878C>G | CA414008468 | PCDH19 | c.720G>C (p.Glu240Asp)
| |
| X | g.100407878C>T | CA10468960 | PCDH19 | c.720G>A (p.Glu240=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407879T>A | CA414008472 | PCDH19 | c.719A>T (p.Glu240Val)
| |
| X | g.100407879T>C | CA414008474 | PCDH19 | c.719A>G (p.Glu240Gly)
| |
| X | g.100407879T>G | CA414008476 | PCDH19 | c.719A>C (p.Glu240Ala)
| |
| X | g.100407880C>A | CA414008479 | PCDH19 | c.718G>T (p.Glu240Ter)
| |
| X | g.100407880C= | CA2447976903 | PCDH19 | c.718G= (p.Glu240=)
| |
| X | g.100407880C>G | CA316324 | PCDH19 | c.718G>C (p.Glu240Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100407880C>T | CA414008483 | PCDH19 | c.718G>A (p.Glu240Lys)
| COSMIC |
| X | g.100407881G>A | CA292695 | PCDH19 | c.717C>T (p.Ser239=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100407881G>C | CA414008487 | PCDH19 | c.717C>G (p.Ser239Arg)
| ClinVar dbSNP |
| X | g.100407881G= | CA2447976904 | PCDH19 | c.717C= (p.Ser239=)
| |
| X | g.100407881G>T | CA414008489 | PCDH19 | c.717C>A (p.Ser239Arg)
| |
| X | g.100407882C>A | CA414008496 | PCDH19 | c.716G>T (p.Ser239Ile)
| gnomAD v4 |
| X | g.100407882C>G | CA414008493 | PCDH19 | c.716G>C (p.Ser239Thr)
| |
| X | g.100407882C>T | CA414008492 | PCDH19 | c.716G>A (p.Ser239Asn)
| |
| X | g.100407883T>A | CA414008498 | PCDH19 | c.715A>T (p.Ser239Cys)
| |
| X | g.100407883T>C | CA414008500 | PCDH19 | c.715A>G (p.Ser239Gly)
| |
| X | g.100407883T>G | CA414008502 | PCDH19 | c.715A>C (p.Ser239Arg)
| |
| X | g.100407884A= | CA2447976905 | PCDH19 | c.714T= (p.Phe238=)
| |
| X | g.100407884A>C | CA414008504 | PCDH19 | c.714T>G (p.Phe238Leu)
| |
| X | g.100407884A>G | CA517748384 | PCDH19 | c.714T>C (p.Phe238=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407884A>T | CA414008507 | PCDH19 | c.714T>A (p.Phe238Leu)
| |
| X | g.100407886del | CA2499226258 | PCDH19 | c.714del (p.Phe238LeufsTer8)
| ClinVar dbSNP |
| X | g.100407885A>C | CA414008510 | PCDH19 | c.713T>G (p.Phe238Cys)
| |
| X | g.100407885A>G | CA414008512 | PCDH19 | c.713T>C (p.Phe238Ser)
| |
| X | g.100407885A>T | CA414008514 | PCDH19 | c.713T>A (p.Phe238Tyr)
| |
