Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.100407891G>A | CA414008536 | PCDH19 | c.707C>T (p.Pro236Leu) | ClinVar dbSNP COSMIC |
X | g.100407891G>C | CA16616407 | PCDH19 | c.707C>G (p.Pro236Arg) | ClinVar dbSNP |
X | g.100407891G= | CA2447976907 | PCDH19 | c.707C= (p.Pro236=) | |
X | g.100407891G>T | CA414008543 | PCDH19 | c.707C>A (p.Pro236Gln) | |
X | g.100407892G>A | CA414008547 | PCDH19 | c.706C>T (p.Pro236Ser) | ClinVar dbSNP |
X | g.100407892G>C | CA414008549 | PCDH19 | c.706C>G (p.Pro236Ala) | |
X | g.100407892G= | CA2447976908 | PCDH19 | c.706C= (p.Pro236=) | |
X | g.100407892G>T | CA414008551 | PCDH19 | c.706C>A (p.Pro236Thr) | |
X | g.100407892_100407895delinsGGTT | CA2447976909 | PCDH19 | c.703_706delinsAACC (p.Asn235=) | |
X | g.100407893G>A | CA10468961 | PCDH19 | c.705C>T (p.Asn235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.100407893G>C | CA414008554 | PCDH19 | c.705C>G (p.Asn235Lys) | |
X | g.100407893G= | CA2447976911 | PCDH19 | c.705C= (p.Asn235=) | |
X | g.100407893G>T | CA414008556 | PCDH19 | c.705C>A (p.Asn235Lys) | |
X | g.100407898_100407900del | CA2447976910 | PCDH19 | c.703_705del (p.Asn235del) | ClinVar dbSNP |
X | g.100407894T>A | CA414008561 | PCDH19 | c.704A>T (p.Asn235Ile) | |
X | g.100407894T>C | CA414008563 | PCDH19 | c.704A>G (p.Asn235Ser) | dbSNP gnomAD v4 |
X | g.100407894T>G | CA414008559 | PCDH19 | c.704A>C (p.Asn235Thr) | |
X | g.100407894T= | CA2447976912 | PCDH19 | c.704A= (p.Asn235=) | |
X | g.100407895T>A | CA414008565 | PCDH19 | c.703A>T (p.Asn235Tyr) | ClinVar |
X | g.100407895T>C | CA414008567 | PCDH19 | c.703A>G (p.Asn235Asp) | |
X | g.100407895T>G | CA414008570 | PCDH19 | c.703A>C (p.Asn235His) | |
X | g.100407896G>A | CA517748422 | PCDH19 | c.702C>T (p.Asn234=) | |
X | g.100407896G>C | CA414008572 | PCDH19 | c.702C>G (p.Asn234Lys) | |
X | g.100407896G>T | CA414008575 | PCDH19 | c.702C>A (p.Asn234Lys) | |
X | g.100407897T>A | CA414008577 | PCDH19 | c.701A>T (p.Asn234Ile) | |
X | g.100407897T>C | CA414008580 | PCDH19 | c.701A>G (p.Asn234Ser) | ClinVar dbSNP |
X | g.100407897T>G | CA414008583 | PCDH19 | c.701A>C (p.Asn234Thr) | ClinVar dbSNP |
X | g.100407897T= | CA2447976913 | PCDH19 | c.701A= (p.Asn234=) | |
X | g.100407898T>A | CA414008586 | PCDH19 | c.700A>T (p.Asn234Tyr) | |
X | g.100407898T>C | CA414008587 | PCDH19 | c.700A>G (p.Asn234Asp) | ClinVar dbSNP |
X | g.100407898T>G | CA414008588 | PCDH19 | c.700A>C (p.Asn234His) | |
X | g.100407898T= | CA2447976914 | PCDH19 | c.700A= (p.Asn234=) | |
X | g.100407898_100407901delinsGTTA | CA2695234727 | PCDH19 | c.697_700delinsTAAC (p.Asp233Ter) | |
X | g.100407899G>A | CA517748433 | PCDH19 | c.699C>T (p.Asp233=) | |
X | g.100407899G>C | CA414008591 | PCDH19 | c.699C>G (p.Asp233Glu) | |
X | g.100407899G>T | CA414008593 | PCDH19 | c.699C>A (p.Asp233Glu) | |
X | g.100407900T>A | CA414008601 | PCDH19 | c.698A>T (p.Asp233Val) | |
X | g.100407900T>C | CA414008598 | PCDH19 | c.698A>G (p.Asp233Gly) | |
X | g.100407900T>G | CA414008597 | PCDH19 | c.698A>C (p.Asp233Ala) | |
X | g.100407901C>A | CA414008603 | PCDH19 | c.697G>T (p.Asp233Tyr) | ClinVar dbSNP |
X | g.100407901C= | CA2447976915 | PCDH19 | c.697G= (p.Asp233=) | |
X | g.100407901C>G | CA414008605 | PCDH19 | c.697G>C (p.Asp233His) | |
X | g.100407901C>T | CA414008607 | PCDH19 | c.697G>A (p.Asp233Asn) | |
X | g.100407902A= | CA2447976916 | PCDH19 | c.696T= (p.Asn232=) | |
X | g.100407902A>C | CA414008610 | PCDH19 | c.696T>G (p.Asn232Lys) | ClinVar dbSNP |
X | g.100407902A>G | CA517748462 | PCDH19 | c.696T>C (p.Asn232=) | |
X | g.100407902A>T | CA316321 | PCDH19 | c.696T>A (p.Asn232Lys) | ClinVar dbSNP |
X | g.100407903T>A | CA172965 | PCDH19 | c.695A>T (p.Asn232Ile) | ClinVar dbSNP |
X | g.100407903T>C | CA316319 | PCDH19 | c.695A>G (p.Asn232Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.100407903T>G | CA414008618 | PCDH19 | c.695A>C (p.Asn232Thr) |