UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.100408305_100408338delinsTTGGGGCTCTGGCGGCACAGCAGATCACGGTCAA | CA2447977098 | PCDH19 | c.260_293delinsTTGACCGTGATCTGCTGTGCCGCCAGAGCCCCAA (p.Ile87=) | |
| X | g.100408307_100408339del | CA915951277 | PCDH19 | c.260_292del (p.Ile87_Pro97del) | ClinVar dbSNP |
| X | g.100408317C>A | CA414010874 | PCDH19 | c.281G>T (p.Arg94Leu) | |
| X | g.100408317C= | CA2447977102 | PCDH19 | c.281G= (p.Arg94=) | |
| X | g.100408317C>G | CA414010876 | PCDH19 | c.281G>C (p.Arg94Pro) | |
| X | g.100408317C>T | CA10469003 | PCDH19 | c.281G>A (p.Arg94His) | dbSNP ExAC gnomAD v2 |
| X | g.100408318G>A | CA414010880 | PCDH19 | c.280C>T (p.Arg94Cys) | gnomAD v4 |
| X | g.100408318G>C | CA414010882 | PCDH19 | c.280C>G (p.Arg94Gly) | |
| X | g.100408318G>T | CA414010885 | PCDH19 | c.280C>A (p.Arg94Ser) | gnomAD v4 |
| X | g.100408319G>A | CA517748458 | PCDH19 | c.279C>T (p.Cys93=) | |
| X | g.100408319G>C | CA414010887 | PCDH19 | c.279C>G (p.Cys93Trp) | |
| X | g.100408319G>T | CA414010889 | PCDH19 | c.279C>A (p.Cys93Ter) | |
| X | g.100408320C>A | CA414010892 | PCDH19 | c.278G>T (p.Cys93Phe) | |
| X | g.100408320C>G | CA414010895 | PCDH19 | c.278G>C (p.Cys93Ser) | |
| X | g.100408320C>T | CA414010897 | PCDH19 | c.278G>A (p.Cys93Tyr) | |
| X | g.100408321A>C | CA414010900 | PCDH19 | c.277T>G (p.Cys93Gly) | |
| X | g.100408321A>G | CA414010901 | PCDH19 | c.277T>C (p.Cys93Arg) | COSMIC |
| X | g.100408321A>T | CA414010903 | PCDH19 | c.277T>A (p.Cys93Ser) | |
| X | g.100408321_100408324delinsACAG | CA2447977103 | PCDH19 | c.274_277delinsCTGT (p.Leu92=) | |
| X | g.100408322C>A | CA517748469 | PCDH19 | c.276G>T (p.Leu92=) | COSMIC |
| X | g.100408322C= | CA2447977104 | PCDH19 | c.276G= (p.Leu92=) | |
| X | g.100408322C>G | CA517748470 | PCDH19 | c.276G>C (p.Leu92=) | COSMIC |
| X | g.100408322C>T | CA517748471 | PCDH19 | c.276G>A (p.Leu92=) | dbSNP gnomAD v4 |
| X | g.100408325_100408327del | CA234494 | PCDH19 | c.274_276del (p.Leu92del) | ClinVar dbSNP |
| X | g.100408323A>C | CA414010907 | PCDH19 | c.275T>G (p.Leu92Arg) | |
| X | g.100408323A>G | CA414010909 | PCDH19 | c.275T>C (p.Leu92Pro) | |
| X | g.100408323A>T | CA414010910 | PCDH19 | c.275T>A (p.Leu92Gln) | |
| X | g.100408324G>A | CA517748479 | PCDH19 | c.274C>T (p.Leu92=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.100408324G>C | CA414010913 | PCDH19 | c.274C>G (p.Leu92Val) | |
| X | g.100408324G= | CA2447977105 | PCDH19 | c.274C= (p.Leu92=) | |
| X | g.100408324G>T | CA414010915 | PCDH19 | c.274C>A (p.Leu92Met) | |
| X | g.100408324dup | CA2573055043 | PCDH19 | c.274dup (p.Leu92ProfsTer?) | ClinVar dbSNP |
| X | g.100408325C>A | CA517748485 | PCDH19 | c.273G>T (p.Leu91=) | |
| X | g.100408325C>G | CA517748484 | PCDH19 | c.273G>C (p.Leu91=) | |
| X | g.100408325C>T | CA517748482 | PCDH19 | c.273G>A (p.Leu91=) | |
| X | g.100408326A>C | CA414010921 | PCDH19 | c.272T>G (p.Leu91Arg) | |
| X | g.100408326A>G | CA414010918 | PCDH19 | c.272T>C (p.Leu91Pro) | |
| X | g.100408326A>T | CA414010920 | PCDH19 | c.272T>A (p.Leu91Gln) | |
| X | g.100408327G>A | CA517748493 | PCDH19 | c.271C>T (p.Leu91=) | |
| X | g.100408327G>C | CA414010923 | PCDH19 | c.271C>G (p.Leu91Val) | |
| X | g.100408327G= | CA2447977106 | PCDH19 | c.271C= (p.Leu91=) | |
| X | g.100408327G>T | CA10469004 | PCDH19 | c.271C>A (p.Leu91Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408328A= | CA2447977107 | PCDH19 | c.270T= (p.Asp90=) | |
| X | g.100408328A>C | CA414010927 | PCDH19 | c.270T>G (p.Asp90Glu) | |
| X | g.100408328A>G | CA517748495 | PCDH19 | c.270T>C (p.Asp90=) | dbSNP |
| X | g.100408328A>T | CA414010929 | PCDH19 | c.270T>A (p.Asp90Glu) | |
| X | g.100408329T>A | CA414010931 | PCDH19 | c.269A>T (p.Asp90Val) | |
| X | g.100408329T>C | CA414010933 | PCDH19 | c.269A>G (p.Asp90Gly) | ClinVar dbSNP |
| X | g.100408329T>G | CA414010936 | PCDH19 | c.269A>C (p.Asp90Ala) | |
| X | g.100408330C>A | CA414010939 | PCDH19 | c.268G>T (p.Asp90Tyr) | |
| X | g.100408330C= | CA2447977108 | PCDH19 | c.268G= (p.Asp90=) | |
| X | g.100408330C>G | CA414010941 | PCDH19 | c.268G>C (p.Asp90His) | ClinVar dbSNP |
| X | g.100408330C>T | CA414010943 | PCDH19 | c.268G>A (p.Asp90Asn) | |
| X | g.100408331A>C | CA517748499 | PCDH19 | c.267T>G (p.Arg89=) | |
| X | g.100408331A>G | CA517748501 | PCDH19 | c.267T>C (p.Arg89=) | |
| X | g.100408331A>T | CA517748502 | PCDH19 | c.267T>A (p.Arg89=) | |
| X | g.100408332C>A | CA414010945 | PCDH19 | c.266G>T (p.Arg89Leu) | |
| X | g.100408332C>G | CA414010946 | PCDH19 | c.266G>C (p.Arg89Pro) | |
| X | g.100408332C>T | CA414010948 | PCDH19 | c.266G>A (p.Arg89His) | COSMIC |
| X | g.100408333G>A | CA414010950 | PCDH19 | c.265C>T (p.Arg89Cys) | |
| X | g.100408333G>C | CA414010952 | PCDH19 | c.265C>G (p.Arg89Gly) | gnomAD v4 |
| X | g.100408333G>T | CA414010954 | PCDH19 | c.265C>A (p.Arg89Ser) | |
| X | g.100408334G>A | CA517748513 | PCDH19 | c.264C>T (p.Asp88=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408334G>C | CA414010957 | PCDH19 | c.264C>G (p.Asp88Glu) | |
| X | g.100408334G= | CA2447977109 | PCDH19 | c.264C= (p.Asp88=) | |
| X | g.100408334G>T | CA414010959 | PCDH19 | c.264C>A (p.Asp88Glu) | |
| X | g.100408335T>A | CA414010961 | PCDH19 | c.263A>T (p.Asp88Val) | |
| X | g.100408335T>C | CA414010964 | PCDH19 | c.263A>G (p.Asp88Gly) | |
| X | g.100408335T>G | CA414010965 | PCDH19 | c.263A>C (p.Asp88Ala) | |
| X | g.100408336C>A | CA414010968 | PCDH19 | c.262G>T (p.Asp88Tyr) | |
| X | g.100408336C>G | CA414010970 | PCDH19 | c.262G>C (p.Asp88His) | |
| X | g.100408336C>T | CA414010971 | PCDH19 | c.262G>A (p.Asp88Asn) | |
| X | g.100408337A>C | CA414010973 | PCDH19 | c.261T>G (p.Ile87Met) | |
| X | g.100408337A>G | CA517748517 | PCDH19 | c.261T>C (p.Ile87=) | |
| X | g.100408337A>T | CA517748520 | PCDH19 | c.261T>A (p.Ile87=) | |
| X | g.100408338A>C | CA414010977 | PCDH19 | c.260T>G (p.Ile87Ser) | |
| X | g.100408338A>G | CA414010979 | PCDH19 | c.260T>C (p.Ile87Thr) | |
| X | g.100408338A>T | CA414010981 | PCDH19 | c.260T>A (p.Ile87Asn) | |
| X | g.100408339T>A | CA414010984 | PCDH19 | c.259A>T (p.Ile87Phe) | |
| X | g.100408339T>C | CA414010985 | PCDH19 | c.259A>G (p.Ile87Val) | |
| X | g.100408339T>G | CA414010988 | PCDH19 | c.259A>C (p.Ile87Leu) | |
| X | g.100408340C>A | CA414010991 | PCDH19 | c.258G>T (p.Lys86Asn) | |
| X | g.100408340C= | CA2447977110 | PCDH19 | c.258G= (p.Lys86=) | |
| X | g.100408340C>G | CA414010993 | PCDH19 | c.258G>C (p.Lys86Asn) | dbSNP |
| X | g.100408340C>T | CA517748539 | PCDH19 | c.258G>A (p.Lys86=) | |
| X | g.100408341T>A | CA414010994 | PCDH19 | c.257A>T (p.Lys86Met) | |
| X | g.100408341T>C | CA414010996 | PCDH19 | c.257A>G (p.Lys86Arg) | |
| X | g.100408341T>G | CA414010998 | PCDH19 | c.257A>C (p.Lys86Thr) | |
| X | g.100408342T>A | CA414011001 | PCDH19 | c.256A>T (p.Lys86Ter) | ClinVar |
| X | g.100408342T>C | CA414011003 | PCDH19 | c.256A>G (p.Lys86Glu) | |
| X | g.100408342T>G | CA414011005 | PCDH19 | c.256A>C (p.Lys86Gln) | |
| X | g.100408343C>A | CA414011008 | PCDH19 | c.255G>T (p.Gln85His) | |
| X | g.100408343C>G | CA414011010 | PCDH19 | c.255G>C (p.Gln85His) | |
| X | g.100408343C>T | CA517748541 | PCDH19 | c.255G>A (p.Gln85=) | gnomAD v4 |
| X | g.100408344T>A | CA414011012 | PCDH19 | c.254A>T (p.Gln85Leu) | |
| X | g.100408344T>C | CA414011014 | PCDH19 | c.254A>G (p.Gln85Arg) | ClinVar dbSNP |
| X | g.100408344T>G | CA414011016 | PCDH19 | c.254A>C (p.Gln85Pro) | |
| X | g.100408344T= | CA2447977111 | PCDH19 | c.254A= (p.Gln85=) | |
| X | g.100408345G>A | CA121295 | PCDH19 | c.253C>T (p.Gln85Ter) | ClinVar dbSNP |
| X | g.100408345G>C | CA414011021 | PCDH19 | c.253C>G (p.Gln85Glu) | |
| X | g.100408345G= | CA2447977112 | PCDH19 | c.253C= (p.Gln85=) | |
| X | g.100408345G>T | CA414011023 | PCDH19 | c.253C>A (p.Gln85Lys) | |
| X | g.100408346del | CA2580100088 | PCDH19 | c.252del (p.Lys84AsnfsTer?) | ClinVar |
| X | g.100408346C>A | CA414011026 | PCDH19 | c.252G>T (p.Lys84Asn) | |
| X | g.100408346C>G | CA414011028 | PCDH19 | c.252G>C (p.Lys84Asn) | |
| X | g.100408346C>T | CA517748546 | PCDH19 | c.252G>A (p.Lys84=) | |
| X | g.100408347T>A | CA414011032 | PCDH19 | c.251A>T (p.Lys84Met) | |
| X | g.100408347T>C | CA414011034 | PCDH19 | c.251A>G (p.Lys84Arg) | |
| X | g.100408347T>G | CA414011036 | PCDH19 | c.251A>C (p.Lys84Thr) | |
| X | g.100408348T>A | CA414011039 | PCDH19 | c.250A>T (p.Lys84Ter) | |
| X | g.100408348T>C | CA414011042 | PCDH19 | c.250A>G (p.Lys84Glu) | |
| X | g.100408348T>G | CA414011044 | PCDH19 | c.250A>C (p.Lys84Gln) | |
| X | g.100408349G>A | CA517748551 | PCDH19 | c.249C>T (p.Thr83=) | |
| X | g.100408349G>C | CA517748554 | PCDH19 | c.249C>G (p.Thr83=) | ClinVar |
| X | g.100408349G>T | CA517748555 | PCDH19 | c.249C>A (p.Thr83=) | gnomAD v4 |
| X | g.100408350G>A | CA414011047 | PCDH19 | c.248C>T (p.Thr83Ile) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408350G>C | CA414011049 | PCDH19 | c.248C>G (p.Thr83Ser) | gnomAD v4 |
| X | g.100408350G= | CA2447977113 | PCDH19 | c.248C= (p.Thr83=) | |
| X | g.100408350G>T | CA414011051 | PCDH19 | c.248C>A (p.Thr83Asn) | gnomAD v4 |
| X | g.100408351T>A | CA414011055 | PCDH19 | c.247A>T (p.Thr83Ser) | gnomAD v4 |
| X | g.100408351T>C | CA414011058 | PCDH19 | c.247A>G (p.Thr83Ala) | |
| X | g.100408351T>G | CA414011060 | PCDH19 | c.247A>C (p.Thr83Pro) | |
| X | g.100408352G>A | CA517748562 | PCDH19 | c.246C>T (p.Val82=) | |
| X | g.100408352G>C | CA517748561 | PCDH19 | c.246C>G (p.Val82=) | |
| X | g.100408352G>T | CA517748559 | PCDH19 | c.246C>A (p.Val82=) | |
| X | g.100408353A= | CA2447977114 | PCDH19 | c.245T= (p.Val82=) | |
| X | g.100408353A>C | CA414011063 | PCDH19 | c.245T>G (p.Val82Gly) | |
| X | g.100408353A>G | CA414011067 | PCDH19 | c.245T>C (p.Val82Ala) | |
| X | g.100408353A>T | CA414011065 | PCDH19 | c.245T>A (p.Val82Asp) | |
| X | g.100408354C>A | CA414011071 | PCDH19 | c.244G>T (p.Val82Phe) | |
| X | g.100408354C= | CA2447977115 | PCDH19 | c.244G= (p.Val82=) | |
| X | g.100408354C>G | CA414011075 | PCDH19 | c.244G>C (p.Val82Leu) | |
| X | g.100408354C>T | CA414011073 | PCDH19 | c.244G>A (p.Val82Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408355dup | CA1139667698 | PCDH19 | c.244dup (p.Val82GlyfsTer7) | ClinVar dbSNP |
| X | g.100408355C>A | CA517748565 | PCDH19 | c.243G>T (p.Leu81=) | |
| X | g.100408355C>G | CA517748566 | PCDH19 | c.243G>C (p.Leu81=) | |
| X | g.100408355C>T | CA517748567 | PCDH19 | c.243G>A (p.Leu81=) | |
| X | g.100408358_100408360dup | CA2822656802 | PCDH19 | c.241_243dup (p.Leu81_Val82insLeu) | |
| X | g.100408356A= | CA2447977116 | PCDH19 | c.242T= (p.Leu81=) | |
| X | g.100408356A>C | CA414011078 | PCDH19 | c.242T>G (p.Leu81Arg) | ClinVar dbSNP |
| X | g.100408356A>G | CA414011083 | PCDH19 | c.242T>C (p.Leu81Pro) | |
| X | g.100408356A>T | CA414011080 | PCDH19 | c.242T>A (p.Leu81Gln) | |
| X | g.100408357G>A | CA517748572 | PCDH19 | c.241C>T (p.Leu81=) | |
| X | g.100408357G>C | CA414011086 | PCDH19 | c.241C>G (p.Leu81Val) | |
| X | g.100408357G>T | CA414011088 | PCDH19 | c.241C>A (p.Leu81Met) | |
| X | g.100408357dup | CA2695234748 | PCDH19 | c.241dup (p.Leu81ProfsTer8) | |
| X | g.100408358C>A | CA517748575 | PCDH19 | c.240G>T (p.Leu80=) | |
| X | g.100408358C>G | CA517748579 | PCDH19 | c.240G>C (p.Leu80=) | |
| X | g.100408358C>T | CA517748578 | PCDH19 | c.240G>A (p.Leu80=) | gnomAD v4 |
| X | g.100408359A= | CA2447977117 | PCDH19 | c.239T= (p.Leu80=) | |
| X | g.100408359A>C | CA414011089 | PCDH19 | c.239T>G (p.Leu80Arg) | |
| X | g.100408359A>G | CA414011090 | PCDH19 | c.239T>C (p.Leu80Pro) | |
| X | g.100408359A>T | CA414011091 | PCDH19 | c.239T>A (p.Leu80Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408360G>A | CA517748581 | PCDH19 | c.238C>T (p.Leu80=) | |
| X | g.100408360G>C | CA10469005 | PCDH19 | c.238C>G (p.Leu80Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408360G= | CA2447977118 | PCDH19 | c.238C= (p.Leu80=) | |
| X | g.100408360G>T | CA414011092 | PCDH19 | c.238C>A (p.Leu80Met) | |
| X | g.100408361G>A | CA517748590 | PCDH19 | c.237C>T (p.Gly79=) | |
| X | g.100408361G>C | CA517748592 | PCDH19 | c.237C>G (p.Gly79=) | |
| X | g.100408361G>T | CA517748594 | PCDH19 | c.237C>A (p.Gly79=) | |
| X | g.100408362C>A | CA414011093 | PCDH19 | c.236G>T (p.Gly79Val) | |
| X | g.100408362C>G | CA414011094 | PCDH19 | c.236G>C (p.Gly79Ala) | |
| X | g.100408362C>T | CA414011095 | PCDH19 | c.236G>A (p.Gly79Asp) | |
| X | g.100408363del | CA2579659334 | PCDH19 | c.236del (p.Gly79AlafsTer?) | |
| X | g.100408363C>A | CA414011098 | PCDH19 | c.235G>T (p.Gly79Cys) | |
| X | g.100408363C>G | CA414011097 | PCDH19 | c.235G>C (p.Gly79Arg) | |
| X | g.100408363C>T | CA414011096 | PCDH19 | c.235G>A (p.Gly79Ser) | |
| X | g.100408364A= | CA2447977119 | PCDH19 | c.234T= (p.Ser78=) | |
| X | g.100408364A>C | CA517748596 | PCDH19 | c.234T>G (p.Ser78=) | |
| X | g.100408364A>G | CA333826105 | PCDH19 | c.234T>C (p.Ser78=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408364A>T | CA517748600 | PCDH19 | c.234T>A (p.Ser78=) | |
| X | g.100408365G>A | CA414011099 | PCDH19 | c.233C>T (p.Ser78Phe) | |
| X | g.100408365G>C | CA414011100 | PCDH19 | c.233C>G (p.Ser78Cys) | |
| X | g.100408365G>T | CA414011101 | PCDH19 | c.233C>A (p.Ser78Tyr) | COSMIC |
| X | g.100408366A>C | CA414011102 | PCDH19 | c.232T>G (p.Ser78Ala) | |
| X | g.100408366A>G | CA414011103 | PCDH19 | c.232T>C (p.Ser78Pro) | |
| X | g.100408366A>T | CA414011104 | PCDH19 | c.232T>A (p.Ser78Thr) | |
| X | g.100408367G>A | CA517748604 | PCDH19 | c.231C>T (p.Ser77=) | ClinVar dbSNP gnomAD v4 |
| X | g.100408367G>C | CA414011105 | PCDH19 | c.231C>G (p.Ser77Arg) | |
| X | g.100408367G>T | CA414011106 | PCDH19 | c.231C>A (p.Ser77Arg) | |
| X | g.100408368C>A | CA414011107 | PCDH19 | c.230G>T (p.Ser77Ile) | |
| X | g.100408368C>G | CA414011108 | PCDH19 | c.230G>C (p.Ser77Thr) | |
| X | g.100408368C>T | CA414011109 | PCDH19 | c.230G>A (p.Ser77Asn) | gnomAD v4 |
| X | g.100408369T>A | CA414011111 | PCDH19 | c.229A>T (p.Ser77Cys) | |
| X | g.100408369T>C | CA414011112 | PCDH19 | c.229A>G (p.Ser77Gly) | gnomAD v4 |
| X | g.100408369T>G | CA414011110 | PCDH19 | c.229A>C (p.Ser77Arg) | |
| X | g.100408370G>A | CA238703 | PCDH19 | c.228C>T (p.Pro76=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408370G>C | CA517748614 | PCDH19 | c.228C>G (p.Pro76=) | |
| X | g.100408370G= | CA2447977120 | PCDH19 | c.228C= (p.Pro76=) | |
| X | g.100408370G>T | CA517748615 | PCDH19 | c.228C>A (p.Pro76=) | |
| X | g.100408371G>A | CA333826106 | PCDH19 | c.227C>T (p.Pro76Leu) | dbSNP |
| X | g.100408371G>C | CA414011113 | PCDH19 | c.227C>G (p.Pro76Arg) | |
| X | g.100408371G= | CA2447977121 | PCDH19 | c.227C= (p.Pro76=) | |
| X | g.100408371G>T | CA414011114 | PCDH19 | c.227C>A (p.Pro76His) | |
| X | g.100408372G>A | CA414011115 | PCDH19 | c.226C>T (p.Pro76Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408372G>C | CA414011116 | PCDH19 | c.226C>G (p.Pro76Ala) | |
| X | g.100408372G= | CA2447977122 | PCDH19 | c.226C= (p.Pro76=) | |
| X | g.100408372G>T | CA414011117 | PCDH19 | c.226C>A (p.Pro76Thr) | |
| X | g.100408373A= | CA2447977123 | PCDH19 | c.225T= (p.Asn75=) | |
| X | g.100408373A>C | CA414011118 | PCDH19 | c.225T>G (p.Asn75Lys) | |
| X | g.100408373A>G | CA517748622 | PCDH19 | c.225T>C (p.Asn75=) | dbSNP |
| X | g.100408373A>T | CA414011119 | PCDH19 | c.225T>A (p.Asn75Lys) | |
| X | g.100408374T>A | CA414011120 | PCDH19 | c.224A>T (p.Asn75Ile) | |
| X | g.100408374T>C | CA316233 | PCDH19 | c.224A>G (p.Asn75Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408374T>G | CA414011121 | PCDH19 | c.224A>C (p.Asn75Thr) | |
| X | g.100408374T= | CA2447977124 | PCDH19 | c.224A= (p.Asn75=) | |
| X | g.100408375T>A | CA414011123 | PCDH19 | c.223A>T (p.Asn75Tyr) | |
| X | g.100408375T>C | CA414011124 | PCDH19 | c.223A>G (p.Asn75Asp) | |
| X | g.100408375T>G | CA414011122 | PCDH19 | c.223A>C (p.Asn75His) | |
| X | g.100408376G>A | CA517748633 | PCDH19 | c.222C>T (p.Ile74=) | |
| X | g.100408376G>C | CA16621903 | PCDH19 | c.222C>G (p.Ile74Met) | ClinVar dbSNP |
| X | g.100408376G= | CA2447977125 | PCDH19 | c.222C= (p.Ile74=) | |
| X | g.100408376G>T | CA517748634 | PCDH19 | c.222C>A (p.Ile74=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408377A>C | CA414011125 | PCDH19 | c.221T>G (p.Ile74Ser) | |
| X | g.100408377A>G | CA414011126 | PCDH19 | c.221T>C (p.Ile74Thr) | |
| X | g.100408377A>T | CA414011127 | PCDH19 | c.221T>A (p.Ile74Asn) | |
| X | g.100408378T>A | CA414011130 | PCDH19 | c.220A>T (p.Ile74Phe) | |
| X | g.100408378T>C | CA414011129 | PCDH19 | c.220A>G (p.Ile74Val) | |
| X | g.100408378T>G | CA414011128 | PCDH19 | c.220A>C (p.Ile74Leu) | |
| X | g.100408379G>A | CA517748639 | PCDH19 | c.219C>T (p.Asp73=) | gnomAD v4 |
| X | g.100408379G>C | CA414011131 | PCDH19 | c.219C>G (p.Asp73Glu) | ClinVar dbSNP |
| X | g.100408379G= | CA2447977126 | PCDH19 | c.219C= (p.Asp73=) | |
| X | g.100408379G>T | CA414011132 | PCDH19 | c.219C>A (p.Asp73Glu) | |
| X | g.100408379_100408380insC | CA316426 | PCDH19 | c.218_219insG (p.Asp73GlufsTer16) | ClinVar dbSNP |
| X | g.100408380T>A | CA414011133 | PCDH19 | c.218A>T (p.Asp73Val) | |
| X | g.100408380T>C | CA414011134 | PCDH19 | c.218A>G (p.Asp73Gly) | |
| X | g.100408380T>G | CA414011135 | PCDH19 | c.218A>C (p.Asp73Ala) | |
| X | g.100408380_100408399delinsCTCCACTAGGTG | CA2695234749 | PCDH19 | c.199_218delinsCACCTAGTGGAG (p.Ser67HisfsTer19) | |
| X | g.100408381C>A | CA414011138 | PCDH19 | c.217G>T (p.Asp73Tyr) | |
| X | g.100408381C>G | CA414011137 | PCDH19 | c.217G>C (p.Asp73His) | |
| X | g.100408381C>T | CA414011136 | PCDH19 | c.217G>A (p.Asp73Asn) | gnomAD v4 |
| X | g.100408382C>A | CA517748643 | PCDH19 | c.216G>T (p.Val72=) | |
| X | g.100408382C>G | CA517748644 | PCDH19 | c.216G>C (p.Val72=) | |
| X | g.100408382C>T | CA517748645 | PCDH19 | c.216G>A (p.Val72=) | |
| X | g.100408383A= | CA2447977127 | PCDH19 | c.215T= (p.Val72=) | |
| X | g.100408383A>C | CA414011139 | PCDH19 | c.215T>G (p.Val72Gly) | |
| X | g.100408383A>G | CA10469006 | PCDH19 | c.215T>C (p.Val72Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408383A>T | CA414011140 | PCDH19 | c.215T>A (p.Val72Glu) | |
| X | g.100408384C>A | CA414011141 | PCDH19 | c.214G>T (p.Val72Leu) | dbSNP |
| X | g.100408384C= | CA2447977128 | PCDH19 | c.214G= (p.Val72=) | |
| X | g.100408384C>G | CA414011142 | PCDH19 | c.214G>C (p.Val72Leu) | |
| X | g.100408384C>T | CA414011143 | PCDH19 | c.214G>A (p.Val72Met) | |
| X | g.100408385T>A | CA517748654 | PCDH19 | c.213A>T (p.Leu71=) | |
| X | g.100408385T>C | CA517748655 | PCDH19 | c.213A>G (p.Leu71=) | |
| X | g.100408385T>G | CA517748656 | PCDH19 | c.213A>C (p.Leu71=) | |
| X | g.100408386A>C | CA414011144 | PCDH19 | c.212T>G (p.Leu71Arg) | |
| X | g.100408386A>G | CA414011145 | PCDH19 | c.212T>C (p.Leu71Pro) | |
| X | g.100408386A>T | CA414011146 | PCDH19 | c.212T>A (p.Leu71Gln) | |
| X | g.100408387G>A | CA517748660 | PCDH19 | c.211C>T (p.Leu71=) | |
| X | g.100408387G>C | CA414011147 | PCDH19 | c.211C>G (p.Leu71Val) | gnomAD v4 |
| X | g.100408387G>T | CA414011148 | PCDH19 | c.211C>A (p.Leu71Ile) | ClinVar |
| X | g.100408387_100408389delinsGGT | CA2447977129 | PCDH19 | c.209_211delinsACC (p.His70=) | |
| X | g.100408388G>A | CA517748663 | PCDH19 | c.210C>T (p.His70=) | ClinVar gnomAD v4 |
| X | g.100408388G>C | CA414011149 | PCDH19 | c.210C>G (p.His70Gln) | |
| X | g.100408388G>T | CA414011150 | PCDH19 | c.210C>A (p.His70Gln) | |
| X | g.100408391_100408392del | CA658659030 | PCDH19 | c.209_210del (p.His70ProfsTer18) | ClinVar dbSNP |
| X | g.100408389T>A | CA414011151 | PCDH19 | c.209A>T (p.His70Leu) | dbSNP gnomAD v4 |
| X | g.100408389T>C | CA414011152 | PCDH19 | c.209A>G (p.His70Arg) | gnomAD v4 |
| X | g.100408389T>G | CA414011153 | PCDH19 | c.209A>C (p.His70Pro) | |
| X | g.100408389T= | CA2447977130 | PCDH19 | c.209A= (p.His70=) | |
| X | g.100408390G>A | CA414011154 | PCDH19 | c.208C>T (p.His70Tyr) | |
| X | g.100408390G>C | CA414011156 | PCDH19 | c.208C>G (p.His70Asp) | |
| X | g.100408390G>T | CA414011155 | PCDH19 | c.208C>A (p.His70Asn) | |
| X | g.100408390_100408399delinsGTGGAGCCGA | CA2447977131 | PCDH19 | c.199_208delinsTCGGCTCCAC (p.Ser67=) | |
| X | g.100408391T>A | CA517748669 | PCDH19 | c.207A>T (p.Pro69=) | |
| X | g.100408391T>C | CA517748670 | PCDH19 | c.207A>G (p.Pro69=) | |
| X | g.100408391T>G | CA517748672 | PCDH19 | c.207A>C (p.Pro69=) | |
| X | g.100408391_100408399del | CA316420 | PCDH19 | c.199_207del (p.Ser67_Pro69del) | ClinVar dbSNP |
| X | g.100408392G>A | CA414011157 | PCDH19 | c.206C>T (p.Pro69Leu) | |
| X | g.100408392G>C | CA414011158 | PCDH19 | c.206C>G (p.Pro69Arg) | |
| X | g.100408392G>T | CA414011159 | PCDH19 | c.206C>A (p.Pro69Gln) | gnomAD v4 |
| X | g.100408393del | CA2579659335 | PCDH19 | c.206del (p.Pro69HisfsTer3) | |
| X | g.100408393G>A | CA414011160 | PCDH19 | c.205C>T (p.Pro69Ser) | |
| X | g.100408393G>C | CA414011161 | PCDH19 | c.205C>G (p.Pro69Ala) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408393G= | CA2447977132 | PCDH19 | c.205C= (p.Pro69=) | |
| X | g.100408393G>T | CA414011162 | PCDH19 | c.205C>A (p.Pro69Thr) | |
| X | g.100408394A>C | CA517748679 | PCDH19 | c.204T>G (p.Ala68=) | |
| X | g.100408394A>G | CA517748681 | PCDH19 | c.204T>C (p.Ala68=) | gnomAD v4 |
| X | g.100408394A>T | CA517748682 | PCDH19 | c.204T>A (p.Ala68=) | |
| X | g.100408395G>A | CA414011163 | PCDH19 | c.203C>T (p.Ala68Val) | ClinVar dbSNP |
| X | g.100408395G>C | CA414011164 | PCDH19 | c.203C>G (p.Ala68Gly) | |
| X | g.100408395G= | CA2447977133 | PCDH19 | c.203C= (p.Ala68=) | |
| X | g.100408395G>T | CA414011165 | PCDH19 | c.203C>A (p.Ala68Asp) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.100408396C>A | CA414011167 | PCDH19 | c.202G>T (p.Ala68Ser) | gnomAD v4 |
| X | g.100408396C= | CA2447977134 | PCDH19 | c.202G= (p.Ala68=) | |
| X | g.100408396C>G | CA414011166 | PCDH19 | c.202G>C (p.Ala68Pro) | |
| X | g.100408396C>T | CA16621904 | PCDH19 | c.202G>A (p.Ala68Thr) | ClinVar dbSNP gnomAD v4 |
| X | g.100408397C>A | CA517748686 | PCDH19 | c.201G>T (p.Ser67=) | |
| X | g.100408397C= | CA2447977135 | PCDH19 | c.201G= (p.Ser67=) | |
| X | g.100408397C>G | CA517748688 | PCDH19 | c.201G>C (p.Ser67=) | gnomAD v4 |
| X | g.100408397C>T | CA10469007 | PCDH19 | c.201G>A (p.Ser67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408398G>A | CA333826107 | PCDH19 | c.200C>T (p.Ser67Leu) | dbSNP |
| X | g.100408398G>C | CA414011168 | PCDH19 | c.200C>G (p.Ser67Trp) | ClinVar dbSNP |
| X | g.100408398G= | CA2447977136 | PCDH19 | c.200C= (p.Ser67=) | |
| X | g.100408398G>T | CA414011169 | PCDH19 | c.200C>A (p.Ser67Ter) | ClinVar dbSNP |
| X | g.100408399A>C | CA414011170 | PCDH19 | c.199T>G (p.Ser67Ala) | |
| X | g.100408399A>G | CA414011171 | PCDH19 | c.199T>C (p.Ser67Pro) | |
| X | g.100408399A>T | CA414011172 | PCDH19 | c.199T>A (p.Ser67Thr) | |
| X | g.100408400G>A | CA517748695 | PCDH19 | c.198C>T (p.Asn66=) | gnomAD v4 |
| X | g.100408400G>C | CA414011173 | PCDH19 | c.198C>G (p.Asn66Lys) | |
| X | g.100408400G>T | CA414011174 | PCDH19 | c.198C>A (p.Asn66Lys) | gnomAD v4 |
| X | g.100408401T>A | CA414011175 | PCDH19 | c.197A>T (p.Asn66Ile) | |
| X | g.100408401T>C | CA414011176 | PCDH19 | c.197A>G (p.Asn66Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.100408401T>G | CA414011177 | PCDH19 | c.197A>C (p.Asn66Thr) | gnomAD v4 |
| X | g.100408401T= | CA2447977137 | PCDH19 | c.197A= (p.Asn66=) | |
| X | g.100408402T>A | CA414011180 | PCDH19 | c.196A>T (p.Asn66Tyr) | |
| X | g.100408402T>C | CA414011179 | PCDH19 | c.196A>G (p.Asn66Asp) | |
| X | g.100408402T>G | CA414011178 | PCDH19 | c.196A>C (p.Asn66His) | |
| X | g.100408403G>A | CA517748697 | PCDH19 | c.195C>T (p.Ser65=) | |
| X | g.100408403G>C | CA517748699 | PCDH19 | c.195C>G (p.Ser65=) | |
| X | g.100408403G>T | CA517748698 | PCDH19 | c.195C>A (p.Ser65=) | gnomAD v4 |
| X | g.100408404G>A | CA10469008 | PCDH19 | c.194C>T (p.Ser65Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408404G>C | CA414011181 | PCDH19 | c.194C>G (p.Ser65Cys) | |
| X | g.100408404G= | CA2447977138 | PCDH19 | c.194C= (p.Ser65=) | |
| X | g.100408404G>T | CA414011182 | PCDH19 | c.194C>A (p.Ser65Tyr) | gnomAD v4 |
| X | g.100408405A>C | CA414011183 | PCDH19 | c.193T>G (p.Ser65Ala) | |
| X | g.100408405A>G | CA414011184 | PCDH19 | c.193T>C (p.Ser65Pro) | gnomAD v4 |
| X | g.100408405A>T | CA414011185 | PCDH19 | c.193T>A (p.Ser65Thr) | |
| X | g.100408406C>A | CA517748706 | PCDH19 | c.192G>T (p.Val64=) | |
| X | g.100408406C>G | CA517748708 | PCDH19 | c.192G>C (p.Val64=) | |
| X | g.100408406C>T | CA517748710 | PCDH19 | c.192G>A (p.Val64=) | |
| X | g.100408407A>C | CA414011186 | PCDH19 | c.191T>G (p.Val64Gly) | |
| X | g.100408407A>G | CA414011187 | PCDH19 | c.191T>C (p.Val64Ala) | |
| X | g.100408407A>T | CA414011188 | PCDH19 | c.191T>A (p.Val64Glu) | |
| X | g.100408408C>A | CA414011189 | PCDH19 | c.190G>T (p.Val64Leu) | |
| X | g.100408408C>G | CA414011190 | PCDH19 | c.190G>C (p.Val64Leu) | |
| X | g.100408408C>T | CA414011191 | PCDH19 | c.190G>A (p.Val64Met) | |
| X | g.100408409C>A | CA517748711 | PCDH19 | c.189G>T (p.Val63=) | |
| X | g.100408409C>G | CA517748712 | PCDH19 | c.189G>C (p.Val63=) | |
| X | g.100408409C>T | CA517748713 | PCDH19 | c.189G>A (p.Val63=) | |
| X | g.100408410A>C | CA414011192 | PCDH19 | c.188T>G (p.Val63Gly) | |
| X | g.100408410A>G | CA414011194 | PCDH19 | c.188T>C (p.Val63Ala) | |
| X | g.100408410A>T | CA414011193 | PCDH19 | c.188T>A (p.Val63Glu) | |
| X | g.100408411C>A | CA414011195 | PCDH19 | c.187G>T (p.Val63Leu) | gnomAD v4 |
| X | g.100408411C>G | CA414011197 | PCDH19 | c.187G>C (p.Val63Leu) | |
| X | g.100408411C>T | CA414011196 | PCDH19 | c.187G>A (p.Val63Met) | |
| X | g.100408412G>A | CA517748719 | PCDH19 | c.186C>T (p.Arg62=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.100408412G>C | CA517748720 | PCDH19 | c.186C>G (p.Arg62=) | |
| X | g.100408412G= | CA2447977139 | PCDH19 | c.186C= (p.Arg62=) | |
| X | g.100408412G>T | CA517748721 | PCDH19 | c.186C>A (p.Arg62=) | |
| X | g.100408413C>A | CA10469009 | PCDH19 | c.185G>T (p.Arg62Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.100408413C= | CA2447977140 | PCDH19 | c.185G= (p.Arg62=) | |
| X | g.100408413C>G | CA414011198 | PCDH19 | c.185G>C (p.Arg62Pro) | |
| X | g.100408413C>T | CA333826108 | PCDH19 | c.185G>A (p.Arg62His) | dbSNP |
| X | g.100408414G>A | CA414011199 | PCDH19 | c.184C>T (p.Arg62Cys) | |
| X | g.100408414G>C | CA414011201 | PCDH19 | c.184C>G (p.Arg62Gly) | |
| X | g.100408414G>T | CA414011200 | PCDH19 | c.184C>A (p.Arg62Ser) | gnomAD v4 |
| X | g.100408415A>C | CA414011202 | PCDH19 | c.183T>G (p.Phe61Leu) | |
| X | g.100408415A>G | CA517748726 | PCDH19 | c.183T>C (p.Phe61=) | |
| X | g.100408415A>T | CA414011203 | PCDH19 | c.183T>A (p.Phe61Leu) | |
| X | g.100408417dup | CA2695234750 | PCDH19 | c.183dup (p.Arg62SerfsTer27) | |
| X | g.100408416A>C | CA414011204 | PCDH19 | c.182T>G (p.Phe61Cys) | gnomAD v4 |
| X | g.100408416A>G | CA414011206 | PCDH19 | c.182T>C (p.Phe61Ser) | gnomAD v4 |
| X | g.100408416A>T | CA414011205 | PCDH19 | c.182T>A (p.Phe61Tyr) | |
| X | g.100408417A>C | CA414011207 | PCDH19 | c.181T>G (p.Phe61Val) | |
| X | g.100408417A>G | CA414011208 | PCDH19 | c.181T>C (p.Phe61Leu) | |
| X | g.100408417A>T | CA414011209 | PCDH19 | c.181T>A (p.Phe61Ile) |