| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) | |
| X | g.25010274C>A | CA121412 | ARX | c.1105G>T (p.Glu369Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.25010274C= | CA2420208036 | ARX | c.1105G= (p.Glu369=) | |
| X | g.25010274C>G | CA412611735 | ARX | c.1105G>C (p.Glu369Gln) | |
| X | g.25010274C>T | CA16608407 | ARX | c.1105G>A (p.Glu369Lys) | ClinVar dbSNP |
| X | g.25010275G>A | CA10373838 | ARX | c.1104C>T (p.Thr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25010275G>C | CA515748679 | ARX | c.1104C>G (p.Thr368=) | |
| X | g.25010275G= | CA2420208037 | ARX | c.1104C= (p.Thr368=) | |
| X | g.25010275G>T | CA515748677 | ARX | c.1104C>A (p.Thr368=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25010276G>A | CA412611736 | ARX | c.1103C>T (p.Thr368Ile) | |
| X | g.25010276G>C | CA412611737 | ARX | c.1103C>G (p.Thr368Ser) | |
| X | g.25010276G>T | CA412611738 | ARX | c.1103C>A (p.Thr368Asn) | |
| X | g.25010277T>A | CA412611739 | ARX | c.1102A>T (p.Thr368Ser) | |
| X | g.25010277T>C | CA412611741 | ARX | c.1102A>G (p.Thr368Ala) | |
| X | g.25010277T>G | CA412611740 | ARX | c.1102A>C (p.Thr368Pro) | |
| X | g.25010278C>A | CA412611742 | ARX | c.1101G>T (p.Leu367Phe) | |
| X | g.25010278C>G | CA412611743 | ARX | c.1101G>C (p.Leu367Phe) | |
| X | g.25010278C>T | CA515748685 | ARX | c.1101G>A (p.Leu367=) | |
| X | g.25010279A>C | CA412611744 | ARX | c.1100T>G (p.Leu367Trp) | |
| X | g.25010279A>G | CA412611745 | ARX | c.1100T>C (p.Leu367Ser) | |
| X | g.25010279A>T | CA412611746 | ARX | c.1100T>A (p.Leu367Ter) | |
| X | g.25010280A>C | CA412611747 | ARX | c.1099T>G (p.Leu367Val) | |
| X | g.25010280A>G | CA515748689 | ARX | c.1099T>C (p.Leu367=) | |
| X | g.25010280A>T | CA412611748 | ARX | c.1099T>A (p.Leu367Met) | |
| X | g.25010281G>A | CA515748691 | ARX | c.1098C>T (p.Asp366=) | gnomAD v4 |
| X | g.25010281G>C | CA412611749 | ARX | c.1098C>G (p.Asp366Glu) | |
| X | g.25010281G>T | CA412611750 | ARX | c.1098C>A (p.Asp366Glu) | |
| X | g.25010282T>A | CA412611753 | ARX | c.1097A>T (p.Asp366Val) | |
| X | g.25010282T>C | CA412611752 | ARX | c.1097A>G (p.Asp366Gly) | |
| X | g.25010282T>G | CA412611751 | ARX | c.1097A>C (p.Asp366Ala) | |
| X | g.25010282_25010283delinsTC | CA2420208038 | ARX | c.1096_1097delinsGA (p.Asp366=) | |
| X | g.25010283C>A | CA412611754 | ARX | c.1096G>T (p.Asp366Tyr) | |
| X | g.25010283C>G | CA412611755 | ARX | c.1096G>C (p.Asp366His) | |
| X | g.25010283C>T | CA412611756 | ARX | c.1096G>A (p.Asp366Asn) |