| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.25012021_25015415del | CA915950806 | ARX | c.196+129_1073+903del | ClinVar |
| X | g.25012991_25012999del | CA2695232859 | ARX | c.1001_1009del (p.Thr334_Thr336del) | |
| X | g.25012997G>A | CA412611988 | ARX | c.998C>T (p.Thr333Ile) | |
| X | g.25012997G>C | CA171168 | ARX | c.998C>G (p.Thr333Ser) | ClinVar dbSNP |
| X | g.25012997G= | CA2420209080 | ARX | c.998C= (p.Thr333=) | |
| X | g.25012997G>T | CA121411 | ARX | c.998C>A (p.Thr333Asn) | ClinVar dbSNP gnomAD v4 |
| X | g.25012998T>A | CA412611989 | ARX | c.997A>T (p.Thr333Ser) | |
| X | g.25012998T>C | CA412611990 | ARX | c.997A>G (p.Thr333Ala) | gnomAD v4 |
| X | g.25012998T>G | CA412611991 | ARX | c.997A>C (p.Thr333Pro) | |
| X | g.25012999G>A | CA515947111 | ARX | c.996C>T (p.Arg332=) | |
| X | g.25012999G>C | CA515947112 | ARX | c.996C>G (p.Arg332=) | |
| X | g.25012999G>T | CA515947113 | ARX | c.996C>A (p.Arg332=) | gnomAD v4 |
| X | g.25013000C>A | CA213238 | ARX | c.995G>T (p.Arg332Leu) | ClinVar dbSNP |
| X | g.25013000C= | CA2420209081 | ARX | c.995G= (p.Arg332=) | |
| X | g.25013000C>G | CA412611992 | ARX | c.995G>C (p.Arg332Pro) | |
| X | g.25013000C>T | CA213168 | ARX | c.995G>A (p.Arg332His) | ClinVar dbSNP gnomAD v4 |
| X | g.25013001G>A | CA412611993 | ARX | c.994C>T (p.Arg332Cys) | ClinVar dbSNP |
| X | g.25013001G>C | CA412611994 | ARX | c.994C>G (p.Arg332Gly) | ClinVar dbSNP |
| X | g.25013001G>T | CA412611995 | ARX | c.994C>A (p.Arg332Ser) | gnomAD v4 |
| X | g.25013002G>A | CA515947114 | ARX | c.993C>T (p.Tyr331=) | ClinVar gnomAD v4 |
| X | g.25013002G>C | CA412611996 | ARX | c.993C>G (p.Tyr331Ter) | |
| X | g.25013002G>T | CA412611997 | ARX | c.993C>A (p.Tyr331Ter) | |
| X | g.25013002_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTATTCTTCATCCGCGATCCATTGCAATTCCCAGATTTGAA | CA2506430009 | ARX | c.992_993insTTCAAATCTGGGAATTGCAATGGATCGCGGATGAAGAATACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG (p.Arg332SerfsTer11) | |
| X | g.25013003T>A | CA412611998 | ARX | c.992A>T (p.Tyr331Phe) | |
| X | g.25013003T>C | CA412612000 | ARX | c.992A>G (p.Tyr331Cys) | dbSNP |
| X | g.25013003T>G | CA412611999 | ARX | c.992A>C (p.Tyr331Ser) | |
| X | g.25013003T= | CA2420209082 | ARX | c.992A= (p.Tyr331=) | |
| X | g.25013004A>C | CA412612001 | ARX | c.991T>G (p.Tyr331Asp) | |
| X | g.25013004A>G | CA412612003 | ARX | c.991T>C (p.Tyr331His) | |
| X | g.25013004A>T | CA412612002 | ARX | c.991T>A (p.Tyr331Asn) | |
| X | g.25013005G>A | CA515947115 | ARX | c.990C>T (p.Arg330=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013005G>C | CA515947116 | ARX | c.990C>G (p.Arg330=) | |
| X | g.25013005G= | CA2420209083 | ARX | c.990C= (p.Arg330=) | |
| X | g.25013005G>T | CA515947117 | ARX | c.990C>A (p.Arg330=) | |
| X | g.25013006C>A | CA412612004 | ARX | c.989G>T (p.Arg330Leu) | |
| X | g.25013006C= | CA2420209084 | ARX | c.989G= (p.Arg330=) | |
| X | g.25013006C>G | CA412612005 | ARX | c.989G>C (p.Arg330Pro) | |
| X | g.25013006C>T | CA10588763 | ARX | c.989G>A (p.Arg330His) | ClinVar dbSNP |
| X | g.25013007G>A | CA412612006 | ARX | c.988C>T (p.Arg330Cys) | ClinVar |
| X | g.25013007G>C | CA412612007 | ARX | c.988C>G (p.Arg330Gly) | |
| X | g.25013007G>T | CA412612008 | ARX | c.988C>A (p.Arg330Ser) | gnomAD v4 |
| X | g.25013008C>A | CA412612009 | ARX | c.987G>T (p.Arg329Ser) | |
| X | g.25013008C>G | CA412612010 | ARX | c.987G>C (p.Arg329Ser) | |
| X | g.25013008C>T | CA515947118 | ARX | c.987G>A (p.Arg329=) | |
| X | g.25013009C>A | CA412612011 | ARX | c.986G>T (p.Arg329Met) | |
| X | g.25013009C>G | CA412612012 | ARX | c.986G>C (p.Arg329Thr) | |
| X | g.25013009C>T | CA412612013 | ARX | c.986G>A (p.Arg329Lys) | COSMIC |
| X | g.25013010T>A | CA412612015 | ARX | c.985A>T (p.Arg329Trp) | |
| X | g.25013010T>C | CA412612014 | ARX | c.985A>G (p.Arg329Gly) | |
| X | g.25013010T>G | CA515947119 | ARX | c.985A>C (p.Arg329=) |