Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407775_100407789del | CA2499226256 | PCDH19 | c.811_825del (p.Gly271_Tyr275del) | ClinVar dbSNP |
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=) |