UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| 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_25013003insCTGATGCAGAACGTGATATCCGTGGCTTTGCTGTAAAAATGTATACTGAAGAAGGTAACTGGGATTTAGTTGGTAACAACACACCAGTGTTCTTCA | CA2820100811 | ARX | c.992_993insTGAAGAACACTGGTGTGTTGTTACCAACTAAATCCCAGTTACCTTCTTCAGTATACATTTTTACAGCAAAGCCACGGATATCACGTTCTGCATCAG (p.Tyr332GlufsTer10) | |
| 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=) | |
| X | g.25013011C>A | CA412612016 | ARX | c.984G>T (p.Gln328His) | gnomAD v4 |
| X | g.25013011C>G | CA412612017 | ARX | c.984G>C (p.Gln328His) | |
| X | g.25013011C>T | CA515947120 | ARX | c.984G>A (p.Gln328=) | |
| X | g.25013011_25013015delinsCTGTT | CA2420209085 | ARX | c.980_984delinsAACAG (p.Lys327=) | |
| X | g.25013012T>A | CA412612018 | ARX | c.983A>T (p.Gln328Leu) | |
| X | g.25013012T>C | CA224142 | ARX | c.983A>G (p.Gln328Arg) | dbSNP |
| X | g.25013012T>G | CA412612019 | ARX | c.983A>C (p.Gln328Pro) | |
| X | g.25013012T= | CA2420209086 | ARX | c.983A= (p.Gln328=) | |
| X | g.25013014_25013017del | CA224141 | ARX | c.980_983del (p.Lys327ArgfsTer?) | ClinVar dbSNP |
| X | g.25013013G>A | CA412612020 | ARX | c.982C>T (p.Gln328Ter) | |
| X | g.25013013G>C | CA412612021 | ARX | c.982C>G (p.Gln328Glu) | |
| X | g.25013013G>T | CA412612022 | ARX | c.982C>A (p.Gln328Lys) | |
| X | g.25013013delinsAAA | CA2695232861 | ARX | c.982delinsTTT (p.Gln328PhefsTer?) | |
| X | g.25013014T>A | CA412612023 | ARX | c.981A>T (p.Lys327Asn) | |
| X | g.25013014T>C | CA515947121 | ARX | c.981A>G (p.Lys327=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013014T>G | CA412612024 | ARX | c.981A>C (p.Lys327Asn) | |
| X | g.25013014T= | CA2420209087 | ARX | c.981A= (p.Lys327=) | |
| X | g.25013015T>A | CA412612026 | ARX | c.980A>T (p.Lys327Ile) | |
| X | g.25013015T>C | CA412612027 | ARX | c.980A>G (p.Lys327Arg) | |
| X | g.25013015T>G | CA412612025 | ARX | c.980A>C (p.Lys327Thr) | |
| X | g.25013016T>A | CA412612028 | ARX | c.979A>T (p.Lys327Ter) | |
| X | g.25013016T>C | CA412612029 | ARX | c.979A>G (p.Lys327Glu) | |
| X | g.25013016T>G | CA412612030 | ARX | c.979A>C (p.Lys327Gln) | |
| X | g.25013017G>A | CA515947123 | ARX | c.978C>T (p.Arg326=) | |
| X | g.25013017G>C | CA515947124 | ARX | c.978C>G (p.Arg326=) | |
| X | g.25013017G>T | CA515947125 | ARX | c.978C>A (p.Arg326=) | gnomAD v4 |
| X | g.25013018C>A | CA412612031 | ARX | c.977G>T (p.Arg326Leu) | |
| X | g.25013018C>G | CA412612032 | ARX | c.977G>C (p.Arg326Pro) | |
| X | g.25013018C>T | CA412612033 | ARX | c.977G>A (p.Arg326His) | gnomAD v4 |
| X | g.25013019G>A | CA412612034 | ARX | c.976C>T (p.Arg326Cys) | dbSNP gnomAD v4 |
| X | g.25013019G>C | CA412612035 | ARX | c.976C>G (p.Arg326Gly) | |
| X | g.25013019G>T | CA412612036 | ARX | c.976C>A (p.Arg326Ser) | |
| X | g.25013020T>A | CA412612037 | ARX | c.975A>T (p.Lys325Asn) | |
| X | g.25013020T>C | CA515947130 | ARX | c.975A>G (p.Lys325=) | |
| X | g.25013020T>G | CA412612038 | ARX | c.975A>C (p.Lys325Asn) | |
| X | g.25013021T>A | CA412612040 | ARX | c.974A>T (p.Lys325Ile) | |
| X | g.25013021T>C | CA412612041 | ARX | c.974A>G (p.Lys325Arg) | |
| X | g.25013021T>G | CA412612039 | ARX | c.974A>C (p.Lys325Thr) | |
| X | g.25013022T>A | CA412612042 | ARX | c.973A>T (p.Lys325Ter) | |
| X | g.25013022T>C | CA412612043 | ARX | c.973A>G (p.Lys325Glu) | |
| X | g.25013022T>G | CA412612044 | ARX | c.973A>C (p.Lys325Gln) | gnomAD v4 |
| X | g.25013023C>A | CA515947134 | ARX | c.972G>T (p.Leu324=) | |
| X | g.25013023C>G | CA515947135 | ARX | c.972G>C (p.Leu324=) | |
| X | g.25013023C>T | CA515947136 | ARX | c.972G>A (p.Leu324=) | |
| X | g.25013024A>C | CA412612045 | ARX | c.971T>G (p.Leu324Arg) | |
| X | g.25013024A>G | CA412612046 | ARX | c.971T>C (p.Leu324Pro) | |
| X | g.25013024A>T | CA412612047 | ARX | c.971T>A (p.Leu324Gln) | |
| X | g.25013025G>A | CA515947140 | ARX | c.970C>T (p.Leu324=) | gnomAD v4 |
| X | g.25013025G>C | CA412612048 | ARX | c.970C>G (p.Leu324Val) | |
| X | g.25013025G>T | CA412612049 | ARX | c.970C>A (p.Leu324Met) | |
| X | g.25013026C>A | CA515947143 | ARX | c.969G>T (p.Leu323=) | |
| X | g.25013026C>G | CA515947145 | ARX | c.969G>C (p.Leu323=) | |
| X | g.25013026C>T | CA515947146 | ARX | c.969G>A (p.Leu323=) | gnomAD v4 |
| X | g.25013027A>C | CA412612050 | ARX | c.968T>G (p.Leu323Arg) | |
| X | g.25013027A>G | CA412612051 | ARX | c.968T>C (p.Leu323Pro) | |
| X | g.25013027A>T | CA412612052 | ARX | c.968T>A (p.Leu323Gln) | |
| X | g.25013028G>A | CA515947148 | ARX | c.967C>T (p.Leu323=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013028G>C | CA412612053 | ARX | c.967C>G (p.Leu323Val) | |
| X | g.25013028G= | CA2420209088 | ARX | c.967C= (p.Leu323=) | |
| X | g.25013028G>T | CA412612054 | ARX | c.967C>A (p.Leu323Met) | gnomAD v4 |
| X | g.25013029C>A | CA515947154 | ARX | c.966G>T (p.Gly322=) | dbSNP |
| X | g.25013029C>G | CA515947155 | ARX | c.966G>C (p.Gly322=) | |
| X | g.25013029C>T | CA515947156 | ARX | c.966G>A (p.Gly322=) | |
| X | g.25013030C>A | CA412612057 | ARX | c.965G>T (p.Gly322Val) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013030C= | CA2420209089 | ARX | c.965G= (p.Gly322=) | |
| X | g.25013030C>G | CA412612056 | ARX | c.965G>C (p.Gly322Ala) | |
| X | g.25013030C>T | CA412612055 | ARX | c.965G>A (p.Gly322Glu) | |
| X | g.25013031C>A | CA412612058 | ARX | c.964G>T (p.Gly322Trp) | gnomAD v4 |
| X | g.25013031C>G | CA412612060 | ARX | c.964G>C (p.Gly322Arg) | |
| X | g.25013031C>T | CA412612059 | ARX | c.964G>A (p.Gly322Arg) | gnomAD v4 |
| X | g.25013032C>A | CA412612061 | ARX | c.963G>T (p.Glu321Asp) | |
| X | g.25013032C>G | CA412612062 | ARX | c.963G>C (p.Glu321Asp) | |
| X | g.25013032C>T | CA515947159 | ARX | c.963G>A (p.Glu321=) | gnomAD v4 |
| X | g.25013033T>A | CA412612063 | ARX | c.962A>T (p.Glu321Val) | |
| X | g.25013033T>C | CA412612064 | ARX | c.962A>G (p.Glu321Gly) | |
| X | g.25013033T>G | CA412612065 | ARX | c.962A>C (p.Glu321Ala) | |
| X | g.25013034C>A | CA412612066 | ARX | c.961G>T (p.Glu321Ter) | |
| X | g.25013034C= | CA2420209090 | ARX | c.961G= (p.Glu321=) | |
| X | g.25013034C>G | CA412612067 | ARX | c.961G>C (p.Glu321Gln) | |
| X | g.25013034C>T | CA412612068 | ARX | c.961G>A (p.Glu321Lys) | dbSNP |
| X | g.25013035C>A | CA412612069 | ARX | c.960G>T (p.Glu320Asp) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013035C= | CA2420209091 | ARX | c.960G= (p.Glu320=) | |
| X | g.25013035C>G | CA412612070 | ARX | c.960G>C (p.Glu320Asp) | |
| X | g.25013035C>T | CA515947165 | ARX | c.960G>A (p.Glu320=) | |
| X | g.25013036T>A | CA412612071 | ARX | c.959A>T (p.Glu320Val) | |
| X | g.25013036T>C | CA412612072 | ARX | c.959A>G (p.Glu320Gly) | |
| X | g.25013036T>G | CA412612073 | ARX | c.959A>C (p.Glu320Ala) | |
| X | g.25013037C>A | CA412612076 | ARX | c.958G>T (p.Glu320Ter) | |
| X | g.25013037C>G | CA412612075 | ARX | c.958G>C (p.Glu320Gln) | |
| X | g.25013037C>T | CA412612074 | ARX | c.958G>A (p.Glu320Lys) | |
| X | g.25013038C>A | CA515947167 | ARX | c.957G>T (p.Ser319=) | |
| X | g.25013038C>G | CA515947169 | ARX | c.957G>C (p.Ser319=) | |
| X | g.25013038C>T | CA515947168 | ARX | c.957G>A (p.Ser319=) | |
| X | g.25013039G>A | CA412612077 | ARX | c.956C>T (p.Ser319Leu) | |
| X | g.25013039G>C | CA412612078 | ARX | c.956C>G (p.Ser319Trp) | |
| X | g.25013039G= | CA2420209092 | ARX | c.956C= (p.Ser319=) | |
| X | g.25013039G>T | CA412612079 | ARX | c.956C>A (p.Ser319Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.25013040A>C | CA412612080 | ARX | c.955T>G (p.Ser319Ala) | |
| X | g.25013040A>G | CA412612081 | ARX | c.955T>C (p.Ser319Pro) | |
| X | g.25013040A>T | CA412612082 | ARX | c.955T>A (p.Ser319Thr) | |
| X | g.25013041G>A | CA515947173 | ARX | c.954C>T (p.Asp318=) | |
| X | g.25013041G>C | CA412612083 | ARX | c.954C>G (p.Asp318Glu) | |
| X | g.25013041G>T | CA412612084 | ARX | c.954C>A (p.Asp318Glu) | |
| X | g.25013042T>A | CA412612085 | ARX | c.953A>T (p.Asp318Val) | |
| X | g.25013042T>C | CA412612086 | ARX | c.953A>G (p.Asp318Gly) | gnomAD v4 |
| X | g.25013042T>G | CA412612087 | ARX | c.953A>C (p.Asp318Ala) | |
| X | g.25013043C>A | CA412612090 | ARX | c.952G>T (p.Asp318Tyr) | |
| X | g.25013043C>G | CA412612089 | ARX | c.952G>C (p.Asp318His) | |
| X | g.25013043C>T | CA412612088 | ARX | c.952G>A (p.Asp318Asn) | |
| X | g.25013044G>A | CA515947175 | ARX | c.951C>T (p.Ser317=) | ClinVar dbSNP gnomAD v4 |
| X | g.25013044G>C | CA412612091 | ARX | c.951C>G (p.Ser317Arg) | |
| X | g.25013044G= | CA2420209093 | ARX | c.951C= (p.Ser317=) | |
| X | g.25013044G>T | CA412612092 | ARX | c.951C>A (p.Ser317Arg) | gnomAD v4 COSMIC |
| X | g.25013045C>A | CA412612093 | ARX | c.950G>T (p.Ser317Ile) | gnomAD v4 |
| X | g.25013045C= | CA2420209094 | ARX | c.950G= (p.Ser317=) | |
| X | g.25013045C>G | CA412612094 | ARX | c.950G>C (p.Ser317Thr) | |
| X | g.25013045C>T | CA16608408 | ARX | c.950G>A (p.Ser317Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013046T>A | CA412612095 | ARX | c.949A>T (p.Ser317Cys) | |
| X | g.25013046T>C | CA412612096 | ARX | c.949A>G (p.Ser317Gly) | |
| X | g.25013046T>G | CA412612097 | ARX | c.949A>C (p.Ser317Arg) | |
| X | g.25013047G>A | CA515947178 | ARX | c.948C>T (p.Gly316=) | ClinVar gnomAD v4 |
| X | g.25013047G>C | CA515947179 | ARX | c.948C>G (p.Gly316=) | |
| X | g.25013047G>T | CA515947181 | ARX | c.948C>A (p.Gly316=) | gnomAD v4 |
| X | g.25013048C>A | CA412612098 | ARX | c.947G>T (p.Gly316Val) | gnomAD v4 |
| X | g.25013048C>G | CA412612099 | ARX | c.947G>C (p.Gly316Ala) | |
| X | g.25013048C>T | CA412612100 | ARX | c.947G>A (p.Gly316Asp) | |
| X | g.25013050del | CA2499226603 | ARX | c.947del (p.Gly316AlafsTer9) | ClinVar dbSNP |
| X | g.25013049C>A | CA412612103 | ARX | c.946G>T (p.Gly316Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.25013049C= | CA2420209095 | ARX | c.946G= (p.Gly316=) | |
| X | g.25013049C>G | CA412612102 | ARX | c.946G>C (p.Gly316Arg) | |
| X | g.25013049C>T | CA412612101 | ARX | c.946G>A (p.Gly316Ser) | ClinVar dbSNP |
| X | g.25013050C>A | CA515947185 | ARX | c.945G>T (p.Ala315=) | gnomAD v4 |
| X | g.25013050C= | CA2420209096 | ARX | c.945G= (p.Ala315=) | |
| X | g.25013050C>G | CA515947186 | ARX | c.945G>C (p.Ala315=) | |
| X | g.25013050C>T | CA515947187 | ARX | c.945G>A (p.Ala315=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25013051G>A | CA412612104 | ARX | c.944C>T (p.Ala315Val) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.25013051G>C | CA412612105 | ARX | c.944C>G (p.Ala315Gly) | |
| X | g.25013051G= | CA2420209097 | ARX | c.944C= (p.Ala315=) | |
| X | g.25013051G>T | CA412612106 | ARX | c.944C>A (p.Ala315Glu) | gnomAD v4 |
| X | g.25013052C>A | CA412612107 | ARX | c.943G>T (p.Ala315Ser) | |
| X | g.25013052C= | CA2420209098 | ARX | c.943G= (p.Ala315=) | |
| X | g.25013052C>G | CA412612108 | ARX | c.943G>C (p.Ala315Pro) | |
| X | g.25013052C>T | CA412612109 | ARX | c.943G>A (p.Ala315Thr) | dbSNP gnomAD v2 |
| X | g.25013053A>C | CA515947190 | ARX | c.942T>G (p.Ser314=) | |
| X | g.25013053A>G | CA515947191 | ARX | c.942T>C (p.Ser314=) | gnomAD v4 |
| X | g.25013053A>T | CA515947192 | ARX | c.942T>A (p.Ser314=) | |
| X | g.25013054G>A | CA412612110 | ARX | c.941C>T (p.Ser314Phe) | |
| X | g.25013054G>C | CA412612111 | ARX | c.941C>G (p.Ser314Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013054G= | CA2420209099 | ARX | c.941C= (p.Ser314=) | |
| X | g.25013054G>T | CA412612112 | ARX | c.941C>A (p.Ser314Tyr) | gnomAD v4 |
| X | g.25013055A>C | CA412612113 | ARX | c.940T>G (p.Ser314Ala) | |
| X | g.25013055A>G | CA412612114 | ARX | c.940T>C (p.Ser314Pro) | gnomAD v4 |
| X | g.25013055A>T | CA412612115 | ARX | c.940T>A (p.Ser314Thr) | |
| X | g.25013056G>A | CA515947195 | ARX | c.939C>T (p.Leu313=) | dbSNP |
| X | g.25013056G>C | CA515947197 | ARX | c.939C>G (p.Leu313=) | |
| X | g.25013056G= | CA2420209100 | ARX | c.939C= (p.Leu313=) | |
| X | g.25013056G>T | CA515947199 | ARX | c.939C>A (p.Leu313=) | gnomAD v4 |
| X | g.25013057A>C | CA412612117 | ARX | c.938T>G (p.Leu313Arg) | |
| X | g.25013057A>G | CA412612118 | ARX | c.938T>C (p.Leu313Pro) | |
| X | g.25013057A>T | CA412612116 | ARX | c.938T>A (p.Leu313His) | |
| X | g.25013058G>A | CA412612121 | ARX | c.937C>T (p.Leu313Phe) | |
| X | g.25013058G>C | CA412612119 | ARX | c.937C>G (p.Leu313Val) | |
| X | g.25013058G>T | CA412612120 | ARX | c.937C>A (p.Leu313Ile) | |
| X | g.25013059G>A | CA515947203 | ARX | c.936C>T (p.Cys312=) | ClinVar gnomAD v4 |
| X | g.25013059G>C | CA412612122 | ARX | c.936C>G (p.Cys312Trp) | |
| X | g.25013059G>T | CA412612123 | ARX | c.936C>A (p.Cys312Ter) | |
| X | g.25013060C>A | CA412612124 | ARX | c.935G>T (p.Cys312Phe) | gnomAD v4 |
| X | g.25013060C>G | CA412612125 | ARX | c.935G>C (p.Cys312Ser) | |
| X | g.25013060C>T | CA412612126 | ARX | c.935G>A (p.Cys312Tyr) | gnomAD v4 |
| X | g.25013061A>C | CA412612127 | ARX | c.934T>G (p.Cys312Gly) | |
| X | g.25013061A>G | CA412612128 | ARX | c.934T>C (p.Cys312Arg) | |
| X | g.25013061A>T | CA412612129 | ARX | c.934T>A (p.Cys312Ser) | |
| X | g.25013062C>A | CA515947207 | ARX | c.933G>T (p.Val311=) | |
| X | g.25013062C>G | CA515947209 | ARX | c.933G>C (p.Val311=) | |
| X | g.25013062C>T | CA515947210 | ARX | c.933G>A (p.Val311=) | |
| X | g.25013063A>C | CA412612130 | ARX | c.932T>G (p.Val311Gly) | |
| X | g.25013063A>G | CA412612131 | ARX | c.932T>C (p.Val311Ala) | |
| X | g.25013063A>T | CA412612132 | ARX | c.932T>A (p.Val311Glu) | |
| X | g.25013064C>A | CA412612133 | ARX | c.931G>T (p.Val311Leu) | gnomAD v4 |
| X | g.25013064C= | CA2420209101 | ARX | c.931G= (p.Val311=) | |
| X | g.25013064C>G | CA412612135 | ARX | c.931G>C (p.Val311Leu) | gnomAD v4 |
| X | g.25013064C>T | CA412612134 | ARX | c.931G>A (p.Val311Met) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013065G>A | CA515947213 | ARX | c.930C>T (p.Ser310=) | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.25013065G>C | CA412612136 | ARX | c.930C>G (p.Ser310Arg) | |
| X | g.25013065G= | CA2420209102 | ARX | c.930C= (p.Ser310=) | |
| X | g.25013065G>T | CA412612137 | ARX | c.930C>A (p.Ser310Arg) | gnomAD v4 |
| X | g.25013066C>A | CA412612138 | ARX | c.929G>T (p.Ser310Ile) | |
| X | g.25013066C>G | CA412612139 | ARX | c.929G>C (p.Ser310Thr) | |
| X | g.25013066C>T | CA412612140 | ARX | c.929G>A (p.Ser310Asn) | |
| X | g.25013067T>A | CA412612141 | ARX | c.928A>T (p.Ser310Cys) | |
| X | g.25013067T>C | CA412612142 | ARX | c.928A>G (p.Ser310Gly) | |
| X | g.25013067T>G | CA412612143 | ARX | c.928A>C (p.Ser310Arg) | |
| X | g.25013068G>A | CA10373861 | ARX | c.927C>T (p.Asp309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013068G>C | CA412612144 | ARX | c.927C>G (p.Asp309Glu) | |
| X | g.25013068G= | CA2420209103 | ARX | c.927C= (p.Asp309=) | |
| X | g.25013068G>T | CA412612145 | ARX | c.927C>A (p.Asp309Glu) | gnomAD v4 |
| X | g.25013069T>A | CA412612147 | ARX | c.926A>T (p.Asp309Val) | |
| X | g.25013069T>C | CA412612148 | ARX | c.926A>G (p.Asp309Gly) | |
| X | g.25013069T>G | CA412612146 | ARX | c.926A>C (p.Asp309Ala) | |
| X | g.25013070C>A | CA412612149 | ARX | c.925G>T (p.Asp309Tyr) | |
| X | g.25013070C>G | CA412612150 | ARX | c.925G>C (p.Asp309His) | COSMIC |
| X | g.25013070C>T | CA412612151 | ARX | c.925G>A (p.Asp309Asn) | |
| X | g.25013071C>A | CA412612152 | ARX | c.924G>T (p.Glu308Asp) | gnomAD v4 |
| X | g.25013071C>G | CA412612153 | ARX | c.924G>C (p.Glu308Asp) | |
| X | g.25013071C>T | CA515947219 | ARX | c.924G>A (p.Glu308=) | ClinVar |
| X | g.25013072T>A | CA412612154 | ARX | c.923A>T (p.Glu308Val) | |
| X | g.25013072T>C | CA412612155 | ARX | c.923A>G (p.Glu308Gly) | |
| X | g.25013072T>G | CA412612156 | ARX | c.923A>C (p.Glu308Ala) | |
| X | g.25013073C>A | CA412612157 | ARX | c.922G>T (p.Glu308Ter) | ClinVar dbSNP |
| X | g.25013073C= | CA2420209104 | ARX | c.922G= (p.Glu308=) | |
| X | g.25013073C>G | CA412612158 | ARX | c.922G>C (p.Glu308Gln) | |
| X | g.25013073C>T | CA412612159 | ARX | c.922G>A (p.Glu308Lys) | gnomAD v4 |
| X | g.25013074_25013075del | CA2579576415 | ARX | c.921_922del (p.Glu308GlyfsTer?) | |
| X | g.25013074G>A | CA224139 | ARX | c.921C>T (p.Gly307=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25013074G>C | CA515947224 | ARX | c.921C>G (p.Gly307=) | |
| X | g.25013074G= | CA2420209105 | ARX | c.921C= (p.Gly307=) | |
| X | g.25013074G>T | CA10373862 | ARX | c.921C>A (p.Gly307=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25013075C>A | CA412612162 | ARX | c.920G>T (p.Gly307Val) | |
| X | g.25013075C>G | CA412612161 | ARX | c.920G>C (p.Gly307Ala) | |
| X | g.25013075C>T | CA412612160 | ARX | c.920G>A (p.Gly307Asp) | |
| X | g.25013076C>A | CA412612163 | ARX | c.919G>T (p.Gly307Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.25013076C= | CA2420209106 | ARX | c.919G= (p.Gly307=) | |
| X | g.25013076C>G | CA412612164 | ARX | c.919G>C (p.Gly307Arg) | |
| X | g.25013076C>T | CA412612165 | ARX | c.919G>A (p.Gly307Ser) | gnomAD v4 |
| X | g.25013077G>A | CA515947228 | ARX | c.918C>T (p.Asp306=) | |
| X | g.25013077G>C | CA412612166 | ARX | c.918C>G (p.Asp306Glu) | |
| X | g.25013077G>T | CA412612167 | ARX | c.918C>A (p.Asp306Glu) | |
| X | g.25013078T>A | CA412612168 | ARX | c.917A>T (p.Asp306Val) | |
| X | g.25013078T>C | CA412612169 | ARX | c.917A>G (p.Asp306Gly) | gnomAD v4 |
| X | g.25013078T>G | CA412612170 | ARX | c.917A>C (p.Asp306Ala) | |
| X | g.25013079C>A | CA412612171 | ARX | c.916G>T (p.Asp306Tyr) | |
| X | g.25013079C>G | CA412612172 | ARX | c.916G>C (p.Asp306His) | |
| X | g.25013079C>T | CA412612173 | ARX | c.916G>A (p.Asp306Asn) | |
| X | g.25013080C>A | CA412612174 | ARX | c.915G>T (p.Lys305Asn) | |
| X | g.25013080C>G | CA412612175 | ARX | c.915G>C (p.Lys305Asn) | |
| X | g.25013080C>T | CA515947233 | ARX | c.915G>A (p.Lys305=) | |
| X | g.25013081T>A | CA412612178 | ARX | c.914A>T (p.Lys305Met) | |
| X | g.25013081T>C | CA412612177 | ARX | c.914A>G (p.Lys305Arg) | |
| X | g.25013081T>G | CA412612176 | ARX | c.914A>C (p.Lys305Thr) | |
| X | g.25013082T>A | CA412612179 | ARX | c.913A>T (p.Lys305Ter) | |
| X | g.25013082T>C | CA412612181 | ARX | c.913A>G (p.Lys305Glu) | gnomAD v4 |
| X | g.25013082T>G | CA412612180 | ARX | c.913A>C (p.Lys305Gln) | |
| X | g.25013083G>A | CA10373863 | ARX | c.912C>T (p.Gly304=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013083G>C | CA515947237 | ARX | c.912C>G (p.Gly304=) | |
| X | g.25013083G= | CA2420209107 | ARX | c.912C= (p.Gly304=) | |
| X | g.25013083G>T | CA515947238 | ARX | c.912C>A (p.Gly304=) | |
| X | g.25013084C>A | CA10373864 | ARX | c.911G>T (p.Gly304Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013084C= | CA2420209108 | ARX | c.911G= (p.Gly304=) | |
| X | g.25013084C>G | CA412612182 | ARX | c.911G>C (p.Gly304Ala) | |
| X | g.25013084C>T | CA412612183 | ARX | c.911G>A (p.Gly304Asp) | |
| X | g.25013085C>A | CA412612184 | ARX | c.910G>T (p.Gly304Cys) | gnomAD v4 |
| X | g.25013085C= | CA2420209109 | ARX | c.910G= (p.Gly304=) | |
| X | g.25013085C>G | CA412612185 | ARX | c.910G>C (p.Gly304Arg) | |
| X | g.25013085C>T | CA10373865 | ARX | c.910G>A (p.Gly304Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013086C>A | CA412612187 | ARX | c.909G>T (p.Glu303Asp) | dbSNP |
| X | g.25013086C= | CA2420209110 | ARX | c.909G= (p.Glu303=) | |
| X | g.25013086C>G | CA412612186 | ARX | c.909G>C (p.Glu303Asp) | |
| X | g.25013086C>T | CA515947247 | ARX | c.909G>A (p.Glu303=) | |
| X | g.25013087T>A | CA412612188 | ARX | c.908A>T (p.Glu303Val) | gnomAD v4 |
| X | g.25013087T>C | CA412612189 | ARX | c.908A>G (p.Glu303Gly) | |
| X | g.25013087T>G | CA412612190 | ARX | c.908A>C (p.Glu303Ala) | |
| X | g.25013088C>A | CA412612191 | ARX | c.907G>T (p.Glu303Ter) | |
| X | g.25013088C>G | CA412612192 | ARX | c.907G>C (p.Glu303Gln) | |
| X | g.25013088C>T | CA412612193 | ARX | c.907G>A (p.Glu303Lys) | |
| X | g.25013089A>C | CA515947253 | ARX | c.906T>G (p.Ala302=) | |
| X | g.25013089A>G | CA515947254 | ARX | c.906T>C (p.Ala302=) | gnomAD v4 |
| X | g.25013089A>T | CA515947255 | ARX | c.906T>A (p.Ala302=) | |
| X | g.25013090G>A | CA412612196 | ARX | c.905C>T (p.Ala302Val) | |
| X | g.25013090G>C | CA412612194 | ARX | c.905C>G (p.Ala302Gly) | |
| X | g.25013090G>T | CA412612195 | ARX | c.905C>A (p.Ala302Asp) | |
| X | g.25013091C>A | CA412612197 | ARX | c.904G>T (p.Ala302Ser) | gnomAD v4 |
| X | g.25013091C= | CA2420209111 | ARX | c.904G= (p.Ala302=) | |
| X | g.25013091C>G | CA412612198 | ARX | c.904G>C (p.Ala302Pro) | ClinVar dbSNP gnomAD v4 |
| X | g.25013091C>T | CA10373866 | ARX | c.904G>A (p.Ala302Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25013092G>A | CA515947261 | ARX | c.903C>T (p.Asp301=) | dbSNP |
| X | g.25013092G>C | CA412612199 | ARX | c.903C>G (p.Asp301Glu) | |
| X | g.25013092G= | CA2420209112 | ARX | c.903C= (p.Asp301=) | |
| X | g.25013092G>T | CA412612200 | ARX | c.903C>A (p.Asp301Glu) | |
| X | g.25013093T>A | CA412612201 | ARX | c.902A>T (p.Asp301Val) | |
| X | g.25013093T>C | CA412612202 | ARX | c.902A>G (p.Asp301Gly) | |
| X | g.25013093T>G | CA412612203 | ARX | c.902A>C (p.Asp301Ala) | |
| X | g.25013094C>A | CA412612204 | ARX | c.901G>T (p.Asp301Tyr) | |
| X | g.25013094C>G | CA412612205 | ARX | c.901G>C (p.Asp301His) | |
| X | g.25013094C>T | CA412612206 | ARX | c.901G>A (p.Asp301Asn) | |
| X | g.25013095T>A | CA412612207 | ARX | c.900A>T (p.Glu300Asp) | gnomAD v4 |
| X | g.25013095T>C | CA515947268 | ARX | c.900A>G (p.Glu300=) | |
| X | g.25013095T>G | CA412612208 | ARX | c.900A>C (p.Glu300Asp) | |
| X | g.25013096T>A | CA412612209 | ARX | c.899A>T (p.Glu300Val) | |
| X | g.25013096T>C | CA412612211 | ARX | c.899A>G (p.Glu300Gly) | |
| X | g.25013096T>G | CA412612210 | ARX | c.899A>C (p.Glu300Ala) | ClinVar |
| X | g.25013097C>A | CA412612212 | ARX | c.898G>T (p.Glu300Ter) | gnomAD v4 |
| X | g.25013097C>G | CA412612213 | ARX | c.898G>C (p.Glu300Gln) | |
| X | g.25013097C>T | CA412612214 | ARX | c.898G>A (p.Glu300Lys) | gnomAD v4 |