Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
X | g.100408418G>A | CA517748733 | PCDH19 | c.180C>T (p.Ala60=) | |
X | g.100408418G>C | CA517748731 | PCDH19 | c.180C>G (p.Ala60=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.100408418G= | CA2447977141 | PCDH19 | c.180C= (p.Ala60=) | |
X | g.100408418G>T | CA517748729 | PCDH19 | c.180C>A (p.Ala60=) | |
X | g.100408419G>A | CA10469010 | PCDH19 | c.179C>T (p.Ala60Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100408419G>C | CA414011210 | PCDH19 | c.179C>G (p.Ala60Gly) | |
X | g.100408419G= | CA2447977142 | PCDH19 | c.179C= (p.Ala60=) | |
X | g.100408419G>T | CA414011211 | PCDH19 | c.179C>A (p.Ala60Asp) | |
X | g.100408420C>A | CA414011212 | PCDH19 | c.178G>T (p.Ala60Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.100408420C= | CA2447977143 | PCDH19 | c.178G= (p.Ala60=) | |
X | g.100408420C>G | CA414011213 | PCDH19 | c.178G>C (p.Ala60Pro) |