| X | g.100407750_100407778delinsTCGTTGACGTAGCCATAGAAGGAGTAGAC | CA2447976845 | PCDH19 | c.820_848delinsGTCTACTCCTTCTATGGCTACGTCAACGA (p.Val274=)
| |
| X | g.100407752_100407779del | CA916083980 | PCDH19 | c.820_847del (p.Val274ThrfsTer22)
| ClinVar dbSNP |
| X | g.100407760A>C | CA414007841 | PCDH19 | c.838T>G (p.Tyr280Asp)
| |
| X | g.100407760A>G | CA414007843 | PCDH19 | c.838T>C (p.Tyr280His)
| |
| X | g.100407760A>T | CA414007842 | PCDH19 | c.838T>A (p.Tyr280Asn)
| |
| X | g.100407761G>A | CA517748003 | PCDH19 | c.837C>T (p.Gly279=)
| |
| X | g.100407761G>C | CA517748007 | PCDH19 | c.837C>G (p.Gly279=)
| dbSNP gnomAD v2 |
| X | g.100407761G= | CA2447976850 | PCDH19 | c.837C= (p.Gly279=)
| |
| X | g.100407761G>T | CA517747998 | PCDH19 | c.837C>A (p.Gly279=)
| |
| X | g.100407762C>A | CA414007844 | PCDH19 | c.836G>T (p.Gly279Val)
| |
| X | g.100407762C>G | CA414007846 | PCDH19 | c.836G>C (p.Gly279Ala)
| |
| X | g.100407762C>T | CA414007849 | PCDH19 | c.836G>A (p.Gly279Asp)
| |
| X | g.100407763C>A | CA414007851 | PCDH19 | c.835G>T (p.Gly279Cys)
| |
| X | g.100407763C= | CA2447976851 | PCDH19 | c.835G= (p.Gly279=)
| |
| X | g.100407763C>G | CA414007853 | PCDH19 | c.835G>C (p.Gly279Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407763C>T | CA414007856 | PCDH19 | c.835G>A (p.Gly279Ser)
| |
| X | g.100407764A>C | CA414007860 | PCDH19 | c.834T>G (p.Tyr278Ter)
| |
| X | g.100407764A>G | CA517748012 | PCDH19 | c.834T>C (p.Tyr278=)
| |
| X | g.100407764A>T | CA414007859 | PCDH19 | c.834T>A (p.Tyr278Ter)
| |
| X | g.100407765del | CA2499226255 | PCDH19 | c.833del (p.Tyr278LeufsTer27)
| ClinVar dbSNP |
| X | g.100407765T>A | CA414007863 | PCDH19 | c.833A>T (p.Tyr278Phe)
| |
| X | g.100407765T>C | CA414007866 | PCDH19 | c.833A>G (p.Tyr278Cys)
| |
| X | g.100407765T>G | CA414007868 | PCDH19 | c.833A>C (p.Tyr278Ser)
| |
| X | g.100407766A= | CA2447976852 | PCDH19 | c.832T= (p.Tyr278=)
| |
| X | g.100407766A>C | CA414007871 | PCDH19 | c.832T>G (p.Tyr278Asp)
| |
| X | g.100407766A>G | CA414007873 | PCDH19 | c.832T>C (p.Tyr278His)
| dbSNP |
| X | g.100407766A>T | CA414007875 | PCDH19 | c.832T>A (p.Tyr278Asn)
| |
| X | g.100407768_100407770del | CA2694246050 | PCDH19 | c.830_832del (p.Phe277del)
| ClinVar gnomAD v4 |
| X | g.100407767G>A | CA10468947 | PCDH19 | c.831C>T (p.Phe277=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407767G>C | CA414007882 | PCDH19 | c.831C>G (p.Phe277Leu)
| |
| X | g.100407767G= | CA2447976853 | PCDH19 | c.831C= (p.Phe277=)
| |
| X | g.100407767G>T | CA414007881 | PCDH19 | c.831C>A (p.Phe277Leu)
| |
| X | g.100407768A>C | CA414007885 | PCDH19 | c.830T>G (p.Phe277Cys)
| |
| X | g.100407768A>G | CA414007887 | PCDH19 | c.830T>C (p.Phe277Ser)
| |
| X | g.100407768A>T | CA414007889 | PCDH19 | c.830T>A (p.Phe277Tyr)
| |
| X | g.100407768_100407771delinsAAGG | CA2447976854 | PCDH19 | c.827_830delinsCCTT (p.Ser276=)
| |
| X | g.100407769A>C | CA414007892 | PCDH19 | c.829T>G (p.Phe277Val)
| |
| X | g.100407769A>G | CA414007894 | PCDH19 | c.829T>C (p.Phe277Leu)
| |
| X | g.100407769A>T | CA414007896 | PCDH19 | c.829T>A (p.Phe277Ile)
| |
| X | g.100407771_100407773del | CA891843595 | PCDH19 | c.827_829del (p.Ser276del)
| ClinVar dbSNP |
| X | g.100407770G>A | CA517748031 | PCDH19 | c.828C>T (p.Ser276=)
| gnomAD v4 |
| X | g.100407770G>C | CA517748032 | PCDH19 | c.828C>G (p.Ser276=)
| |
| X | g.100407770G= | CA2447976855 | PCDH19 | c.828C= (p.Ser276=)
| |
| X | g.100407770G>T | CA517748034 | PCDH19 | c.828C>A (p.Ser276=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.100407771G>A | CA414007898 | PCDH19 | c.827C>T (p.Ser276Phe)
| gnomAD v4 |
| X | g.100407771G>C | CA414007901 | PCDH19 | c.827C>G (p.Ser276Cys)
| dbSNP |
| X | g.100407771G= | CA2447976856 | PCDH19 | c.827C= (p.Ser276=)
| |
| X | g.100407771G>T | CA414007903 | PCDH19 | c.827C>A (p.Ser276Tyr)
| |
| X | g.100407772_100407773del | CA2580100054 | PCDH19 | c.826_827del (p.Ser276LeufsTer?)
| ClinVar |
| X | g.100407772A= | CA2447976857 | PCDH19 | c.826T= (p.Ser276=)
| |
| X | g.100407772A>C | CA10468948 | PCDH19 | c.826T>G (p.Ser276Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100407772A>G | CA414007906 | PCDH19 | c.826T>C (p.Ser276Pro)
| COSMIC |
| X | g.100407772A>T | CA414007908 | PCDH19 | c.826T>A (p.Ser276Thr)
| |
| X | g.100407773G>A | CA517748039 | PCDH19 | c.825C>T (p.Tyr275=)
| gnomAD v4 |
| X | g.100407773G>C | CA414007911 | PCDH19 | c.825C>G (p.Tyr275Ter)
| |
| X | g.100407773G= | CA2447976858 | PCDH19 | c.825C= (p.Tyr275=)
| |
| X | g.100407773G>T | CA16608688 | PCDH19 | c.825C>A (p.Tyr275Ter)
| ClinVar dbSNP |
| X | g.100407775_100407789del | CA2499226256 | PCDH19 | c.811_825del (p.Gly271_Tyr275del)
| ClinVar dbSNP |
| X | g.100407774T>A | CA414007915 | PCDH19 | c.824A>T (p.Tyr275Phe)
| |
| X | g.100407774T>C | CA414007917 | PCDH19 | c.824A>G (p.Tyr275Cys)
| ClinVar dbSNP |
| X | g.100407774T>G | CA414007919 | PCDH19 | c.824A>C (p.Tyr275Ser)
| ClinVar dbSNP |
| X | g.100407774T= | CA2447976859 | PCDH19 | c.824A= (p.Tyr275=)
| |
| X | g.100407775A>C | CA414007922 | PCDH19 | c.823T>G (p.Tyr275Asp)
| |
| X | g.100407775A>G | CA414007924 | PCDH19 | c.823T>C (p.Tyr275His)
| |
| X | g.100407775A>T | CA414007926 | PCDH19 | c.823T>A (p.Tyr275Asn)
| |
| X | g.100407776G>A | CA517748048 | PCDH19 | c.822C>T (p.Val274=)
| |
| X | g.100407776G>C | CA517748050 | PCDH19 | c.822C>G (p.Val274=)
| |
| X | g.100407776G>T | CA517748051 | PCDH19 | c.822C>A (p.Val274=)
| gnomAD v4 |
| X | g.100407777A>C | CA414007935 | PCDH19 | c.821T>G (p.Val274Gly)
| |
| X | g.100407777A>G | CA414007933 | PCDH19 | c.821T>C (p.Val274Ala)
| |
| X | g.100407777A>T | CA414007931 | PCDH19 | c.821T>A (p.Val274Asp)
| |
| X | g.100407778C>A | CA414007938 | PCDH19 | c.820G>T (p.Val274Phe)
| COSMIC |
| X | g.100407778C>G | CA414007940 | PCDH19 | c.820G>C (p.Val274Leu)
| |
| X | g.100407778C>T | CA414007942 | PCDH19 | c.820G>A (p.Val274Ile)
| gnomAD v4 |
| X | g.100407779C>A | CA517748055 | PCDH19 | c.819G>T (p.Val273=)
| |
| X | g.100407779C>G | CA517748056 | PCDH19 | c.819G>C (p.Val273=)
| |
| X | g.100407779C>T | CA517748057 | PCDH19 | c.819G>A (p.Val273=)
| |
| X | g.100407780A>C | CA414007945 | PCDH19 | c.818T>G (p.Val273Gly)
| |
| X | g.100407780A>G | CA414007947 | PCDH19 | c.818T>C (p.Val273Ala)
| |
| X | g.100407780A>T | CA414007949 | PCDH19 | c.818T>A (p.Val273Glu)
| |
| X | g.100407780_100407782delinsACC | CA2447976860 | PCDH19 | c.816_818delinsGGT (p.Gln272=)
| |
| X | g.100407781C>A | CA414007952 | PCDH19 | c.817G>T (p.Val273Leu)
| |
| X | g.100407781C>G | CA414007956 | PCDH19 | c.817G>C (p.Val273Leu)
| gnomAD v4 |
| X | g.100407781C>T | CA414007954 | PCDH19 | c.817G>A (p.Val273Met)
| |
| X | g.100407781_100407782del | CA916083981 | PCDH19 | c.816_817del (p.Gln272HisfsTer?)
| ClinVar dbSNP |
| X | g.100407782C>A | CA414007959 | PCDH19 | c.816G>T (p.Gln272His)
| |
| X | g.100407782C>G | CA414007962 | PCDH19 | c.816G>C (p.Gln272His)
| |
| X | g.100407782C>T | CA517748065 | PCDH19 | c.816G>A (p.Gln272=)
| gnomAD v4 |
| X | g.100407783T>A | CA414007964 | PCDH19 | c.815A>T (p.Gln272Leu)
| |
| X | g.100407783T>C | CA414007967 | PCDH19 | c.815A>G (p.Gln272Arg)
| |
| X | g.100407783T>G | CA414007970 | PCDH19 | c.815A>C (p.Gln272Pro)
| |
| X | g.100407784G>A | CA200393 | PCDH19 | c.814C>T (p.Gln272Ter)
| ClinVar dbSNP |
| X | g.100407784G>C | CA414007974 | PCDH19 | c.814C>G (p.Gln272Glu)
| |
| X | g.100407784G= | CA2447976861 | PCDH19 | c.814C= (p.Gln272=)
| |
| X | g.100407784G>T | CA414007976 | PCDH19 | c.814C>A (p.Gln272Lys)
| |
| 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)
| |
