Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.25010259C>A | CA412611706 | ARX | c.1119+1G>T (n.1119+1G>T) | |
X | g.25010259C>G | CA412611704 | ARX | c.1119+1G>C (n.1119+1G>C) | |
X | g.25010259C>T | CA412611705 | ARX | c.1119+1G>A (n.1119+1G>A) | |
X | g.25010260C>A | CA412611707 | ARX | c.1119G>T (p.Gln373His) | |
X | g.25010260C>G | CA412611708 | ARX | c.1119G>C (p.Gln373His) | |
X | g.25010260C>T | CA515748632 | ARX | c.1119G>A (p.Gln373=) | |
X | g.25010261T>A | CA412611709 | ARX | c.1118A>T (p.Gln373Leu) | |
X | g.25010261T>C | CA412611710 | ARX | c.1118A>G (p.Gln373Arg) | |
X | g.25010261T>G | CA412611711 | ARX | c.1118A>C (p.Gln373Pro) | |
X | g.25010262G>A | CA213169 | ARX | c.1117C>T (p.Gln373Ter) | ClinVar dbSNP |
X | g.25010262G>C | CA412611713 | ARX | c.1117C>G (p.Gln373Glu) | gnomAD v4 |
X | g.25010262G= | CA2420208032 | ARX | c.1117C= (p.Gln373=) | |
X | g.25010262G>T | CA412611712 | ARX | c.1117C>A (p.Gln373Lys) | dbSNP |
X | g.25010263G>A | CA515748642 | ARX | c.1116C>T (p.Val372=) | |
X | g.25010263G>C | CA515748639 | ARX | c.1116C>G (p.Val372=) | |
X | g.25010263G= | CA2420208033 | ARX | c.1116C= (p.Val372=) | |
X | g.25010263G>T | CA515748640 | ARX | c.1116C>A (p.Val372=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.25010264A>C | CA412611714 | ARX | c.1115T>G (p.Val372Gly) | |
X | g.25010264A>G | CA412611715 | ARX | c.1115T>C (p.Val372Ala) | |
X | g.25010264A>T | CA412611716 | ARX | c.1115T>A (p.Val372Asp) | |
X | g.25010265C>A | CA412611717 | ARX | c.1114G>T (p.Val372Phe) | |
X | g.25010265C>G | CA412611718 | ARX | c.1114G>C (p.Val372Leu) | |
X | g.25010265C>T | CA412611719 | ARX | c.1114G>A (p.Val372Ile) | |
X | g.25010266T>A | CA515748649 | ARX | c.1113A>T (p.Arg371=) | |
X | g.25010266T>C | CA515748651 | ARX | c.1113A>G (p.Arg371=) | |
X | g.25010266T>G | CA515748653 | ARX | c.1113A>C (p.Arg371=) | |
X | g.25010267C>A | CA412611720 | ARX | c.1112G>T (p.Arg371Leu) | |
X | g.25010267C>G | CA412611721 | ARX | c.1112G>C (p.Arg371Pro) | |
X | g.25010267C>T | CA412611722 | ARX | c.1112G>A (p.Arg371Gln) | ClinVar dbSNP |
X | g.25010268G>A | CA233280 | ARX | c.1111C>T (p.Arg371Ter) | ClinVar dbSNP gnomAD v2 |
X | g.25010268G>C | CA412611723 | ARX | c.1111C>G (p.Arg371Gly) | |
X | g.25010268G= | CA2420208034 | ARX | c.1111C= (p.Arg371=) | |
X | g.25010268G>T | CA515748657 | ARX | c.1111C>A (p.Arg371=) | COSMIC |
X | g.25010270del | CA2580100526 | ARX | c.1111del (p.Arg371GlufsTer?) | ClinVar |
X | g.25010269G>A | CA515748662 | ARX | c.1110C>T (p.Ala370=) | |
X | g.25010269G>C | CA515748661 | ARX | c.1110C>G (p.Ala370=) | |
X | g.25010269G>T | CA515748664 | ARX | c.1110C>A (p.Ala370=) | |
X | g.25010270G>A | CA412611724 | ARX | c.1109C>T (p.Ala370Val) | gnomAD v4 |
X | g.25010270G>C | CA412611726 | ARX | c.1109C>G (p.Ala370Gly) | |
X | g.25010270G>T | CA412611725 | ARX | c.1109C>A (p.Ala370Asp) | |
X | g.25010271C>A | CA412611727 | ARX | c.1108G>T (p.Ala370Ser) | |
X | g.25010271C>G | CA412611729 | ARX | c.1108G>C (p.Ala370Pro) | |
X | g.25010271C>T | CA412611728 | ARX | c.1108G>A (p.Ala370Thr) | |
X | g.25010272C>A | CA412611730 | ARX | c.1107G>T (p.Glu369Asp) | |
X | g.25010272C= | CA2420208035 | ARX | c.1107G= (p.Glu369=) | |
X | g.25010272C>G | CA412611731 | ARX | c.1107G>C (p.Glu369Asp) | |
X | g.25010272C>T | CA10373837 | ARX | c.1107G>A (p.Glu369=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.25010273T>A | CA412611732 | ARX | c.1106A>T (p.Glu369Val) | |
X | g.25010273T>C | CA412611733 | ARX | c.1106A>G (p.Glu369Gly) | |
X | g.25010273T>G | CA412611734 | ARX | c.1106A>C (p.Glu369Ala) |