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.25012885_25012907delinsCTCTGCCGCTGCGACCGCGACCA | CA2420209035 | ARX | c.1073+15_1073+37delinsTGGTCGCGGTCGCAGCGGCAGAG (n.1073+15_1073+37delinsTGGTCGCGGTCGCAGCGGCAGAG) | |
| X | g.25012886_25012907del | CA2420209036 | ARX | c.1073+15_1073+36del (n.1073+15_1073+36del) | dbSNP |
| X | g.25012892_25012908del | CA1131756958 | ARX | c.1073+15_1073+31del (n.1073+15_1073+31del) | gnomAD v3 gnomAD v4 |
| X | g.25012893C>T | CA2693353335 | ARX | c.1073+29G>A (n.1073+29G>A) | gnomAD v4 |
| X | g.25012894T>C | CA10373851 | ARX | c.1073+28A>G (n.1073+28A>G) | dbSNP ExAC gnomAD v2 |
| X | g.25012894T= | CA2420209041 | ARX | c.1073+28A= (n.1073+28A=) | |
| X | g.25012896C>A | CA2693353337 | ARX | c.1073+26G>T (n.1073+26G>T) | gnomAD v4 |
| X | g.25012896C= | CA2420209042 | ARX | c.1073+26G= (n.1073+26G=) | |
| X | g.25012896C>G | CA2420209043 | ARX | c.1073+26G>C (n.1073+26G>C) | dbSNP gnomAD v4 |
| X | g.25012896C>T | CA2693353338 | ARX | c.1073+26G>A (n.1073+26G>A) | gnomAD v4 |
| X | g.25012898_25012901dup | CA2693353336 | ARX | c.1073+23_1073+26dup (n.1073+23_1073+26dup) | gnomAD v4 |
| X | g.25012897G>A | CA2535822720 | ARX | c.1073+25C>T (n.1073+25C>T) | gnomAD v4 |
| X | g.25012897G>T | CA2693353339 | ARX | c.1073+25C>A (n.1073+25C>A) | gnomAD v4 |
| X | g.25012899C>T | CA2693353340 | ARX | c.1073+23G>A (n.1073+23G>A) | gnomAD v4 |
| X | g.25012900C>A | CA2693353341 | ARX | c.1073+22G>T (n.1073+22G>T) | gnomAD v4 |
| X | g.25012900C>T | CA2693353342 | ARX | c.1073+22G>A (n.1073+22G>A) | gnomAD v4 |
| X | g.25012901G>A | CA874146468 | ARX | c.1073+21C>T (n.1073+21C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25012901G>C | CA10373852 | ARX | c.1073+21C>G (n.1073+21C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25012901G= | CA2420209044 | ARX | c.1073+21C= (n.1073+21C=) | |
| X | g.25012901G>T | CA641364625 | ARX | c.1073+21C>A (n.1073+21C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25012902C= | CA2420209045 | ARX | c.1073+20G= (n.1073+20G=) | |
| X | g.25012902C>G | CA2693353343 | ARX | c.1073+20G>C (n.1073+20G>C) | gnomAD v4 |
| X | g.25012902C>T | CA10373853 | ARX | c.1073+20G>A (n.1073+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25012903G>A | CA1131756966 | ARX | c.1073+19C>T (n.1073+19C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25012903G= | CA2420209046 | ARX | c.1073+19C= (n.1073+19C=) | |
| X | g.25012903G>T | CA2693353344 | ARX | c.1073+19C>A (n.1073+19C>A) | gnomAD v4 |
| X | g.25012904A>G | CA2740092062 | ARX | c.1073+18T>C (n.1073+18T>C) | ClinVar |
| X | g.25012906C>A | CA2693353345 | ARX | c.1073+16G>T (n.1073+16G>T) | gnomAD v4 |
| X | g.25012907A= | CA2420209047 | ARX | c.1073+15T= (n.1073+15T=) | |
| X | g.25012907A>G | CA641364626 | ARX | c.1073+15T>C (n.1073+15T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25012907A>T | CA2579576412 | ARX | c.1073+15T>A (n.1073+15T>A) | |
| X | g.25012908C>A | CA10373854 | ARX | c.1073+14G>T (n.1073+14G>T) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.25012908C= | CA2420209048 | ARX | c.1073+14G= (n.1073+14G=) | |
| X | g.25012908C>T | CA874146482 | ARX | c.1073+14G>A (n.1073+14G>A) | dbSNP gnomAD v4 |
| X | g.25012909C>A | CA2693353347 | ARX | c.1073+13G>T (n.1073+13G>T) | gnomAD v4 |
| X | g.25012909C>T | CA2693353346 | ARX | c.1073+13G>A (n.1073+13G>A) | ClinVar gnomAD v4 |
| X | g.25012910C>A | CA2820100800 | ARX | c.1073+12G>T (n.1073+12G>T) | |
| X | g.25012911T>C | CA2693353348 | ARX | c.1073+11A>G (n.1073+11A>G) | gnomAD v4 |
| X | g.25012913C>A | CA2693353349 | ARX | c.1073+9G>T (n.1073+9G>T) | gnomAD v4 |
| X | g.25012913C= | CA2420209049 | ARX | c.1073+9G= (n.1073+9G=) | |
| X | g.25012913C>G | CA10373855 | ARX | c.1073+9G>C (n.1073+9G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25012913C>T | CA2579576413 | ARX | c.1073+9G>A (n.1073+9G>A) | ClinVar gnomAD v4 |
| X | g.25012914G>A | CA2693353350 | ARX | c.1073+8C>T (n.1073+8C>T) | gnomAD v4 |
| X | g.25012914G>C | CA2693353351 | ARX | c.1073+8C>G (n.1073+8C>G) | gnomAD v4 |
| X | g.25012914G>T | CA2579576414 | ARX | c.1073+8C>A (n.1073+8C>A) | ClinVar |
| X | g.25012915C= | CA2420209051 | ARX | c.1073+7G= (n.1073+7G=) | |
| X | g.25012915C>G | CA2420209050 | ARX | c.1073+7G>C (n.1073+7G>C) | dbSNP gnomAD v4 |
| X | g.25012915C>T | CA874146488 | ARX | c.1073+7G>A (n.1073+7G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.25012916G>A | CA641364627 | ARX | c.1073+6C>T (n.1073+6C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012916G= | CA2420209052 | ARX | c.1073+6C= (n.1073+6C=) | |
| X | g.25012916G>T | CA645618122 | ARX | c.1073+6C>A (n.1073+6C>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.25012917C>A | CA2693353352 | ARX | c.1073+5G>T (n.1073+5G>T) | gnomAD v4 |
| X | g.25012917C= | CA2420209053 | ARX | c.1073+5G= (n.1073+5G=) | |
| X | g.25012917C>T | CA641364628 | ARX | c.1073+5G>A (n.1073+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012918A= | CA2420209054 | ARX | c.1073+4T= (n.1073+4T=) | |
| X | g.25012918A>C | CA641364629 | ARX | c.1073+4T>G (n.1073+4T>G) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012918A>G | CA2573158497 | ARX | c.1073+4T>C (n.1073+4T>C) | ClinVar dbSNP |
| X | g.25012920A>C | CA412611815 | ARX | c.1073+2T>G (n.1073+2T>G) | |
| X | g.25012920A>G | CA412611814 | ARX | c.1073+2T>C (n.1073+2T>C) | |
| X | g.25012920A>T | CA412611816 | ARX | c.1073+2T>A (n.1073+2T>A) | |
| X | g.25012921C>A | CA412611817 | ARX | c.1073+1G>T (n.1073+1G>T) | |
| X | g.25012921C= | CA2420209055 | ARX | c.1073+1G= (n.1073+1G=) | |
| X | g.25012921C>G | CA412611819 | ARX | c.1073+1G>C (n.1073+1G>C) | |
| X | g.25012921C>T | CA412611818 | ARX | c.1073+1G>A (n.1073+1G>A) | dbSNP gnomAD v2 |
| X | g.25012922C>A | CA412611820 | ARX | c.1073G>T (p.Arg358Met) | gnomAD v4 |
| X | g.25012922C>G | CA412611821 | ARX | c.1073G>C (p.Arg358Thr) | |
| X | g.25012922C>T | CA412611822 | ARX | c.1073G>A (p.Arg358Lys) | ClinVar dbSNP |
| X | g.25012923T>A | CA412611823 | ARX | c.1072A>T (p.Arg358Trp) | |
| X | g.25012923T>C | CA412611824 | ARX | c.1072A>G (p.Arg358Gly) | |
| X | g.25012923T>G | CA515946923 | ARX | c.1072A>C (p.Arg358=) | |
| X | g.25012924G>A | CA515946924 | ARX | c.1071C>T (p.Thr357=) | |
| X | g.25012924G>C | CA10373856 | ARX | c.1071C>G (p.Thr357=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25012924G= | CA2420209056 | ARX | c.1071C= (p.Thr357=) | |
| X | g.25012924G>T | CA515946925 | ARX | c.1071C>A (p.Thr357=) | |
| X | g.25012925G>A | CA412611825 | ARX | c.1070C>T (p.Thr357Ile) | |
| X | g.25012925G>C | CA412611826 | ARX | c.1070C>G (p.Thr357Ser) | |
| X | g.25012925G= | CA2420209057 | ARX | c.1070C= (p.Thr357=) | |
| X | g.25012925G>T | CA10373857 | ARX | c.1070C>A (p.Thr357Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25012926T>A | CA412611827 | ARX | c.1069A>T (p.Thr357Ser) | |
| X | g.25012926T>C | CA412611828 | ARX | c.1069A>G (p.Thr357Ala) | |
| X | g.25012926T>G | CA412611829 | ARX | c.1069A>C (p.Thr357Pro) | |
| X | g.25012927G>A | CA515946926 | ARX | c.1068C>T (p.Phe356=) | |
| X | g.25012927G>C | CA412611831 | ARX | c.1068C>G (p.Phe356Leu) | |
| X | g.25012927G>T | CA412611830 | ARX | c.1068C>A (p.Phe356Leu) | |
| X | g.25012928A>C | CA412611832 | ARX | c.1067T>G (p.Phe356Cys) | |
| X | g.25012928A>G | CA412611833 | ARX | c.1067T>C (p.Phe356Ser) | |
| X | g.25012928A>T | CA412611834 | ARX | c.1067T>A (p.Phe356Tyr) | |
| X | g.25012929A= | CA2420209058 | ARX | c.1066T= (p.Phe356=) | |
| X | g.25012929A>C | CA412611835 | ARX | c.1066T>G (p.Phe356Val) | |
| X | g.25012929A>G | CA412611836 | ARX | c.1066T>C (p.Phe356Leu) | gnomAD v4 |
| X | g.25012929A>T | CA412611837 | ARX | c.1066T>A (p.Phe356Ile) | COSMIC |
| X | g.25012930G>A | CA515946927 | ARX | c.1065C>T (p.Val355=) | |
| X | g.25012930G>C | CA515946928 | ARX | c.1065C>G (p.Val355=) | |
| X | g.25012930G>T | CA515946929 | ARX | c.1065C>A (p.Val355=) | gnomAD v4 |
| X | g.25012932_25012933insAAGGAC | CA645373292 | ARX | c.1065_1066insCTTGTC (p.Val355_Phe356insLeuVal) | ClinVar dbSNP |
| X | g.25012931A>C | CA412611838 | ARX | c.1064T>G (p.Val355Gly) | |
| X | g.25012931A>G | CA412611839 | ARX | c.1064T>C (p.Val355Ala) | gnomAD v4 |
| X | g.25012931A>T | CA412611840 | ARX | c.1064T>A (p.Val355Asp) | |
| X | g.25012932C>A | CA412611841 | ARX | c.1063G>T (p.Val355Phe) | |
| X | g.25012932C>G | CA412611842 | ARX | c.1063G>C (p.Val355Leu) | |
| X | g.25012932C>T | CA412611843 | ARX | c.1063G>A (p.Val355Ile) | |
| X | g.25012933G>A | CA515946930 | ARX | c.1062C>T (p.Asp354=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012933G>C | CA412611844 | ARX | c.1062C>G (p.Asp354Glu) | |
| X | g.25012933G= | CA2420209059 | ARX | c.1062C= (p.Asp354=) | |
| X | g.25012933G>T | CA412611845 | ARX | c.1062C>A (p.Asp354Glu) | |
| X | g.25012934T>A | CA412611846 | ARX | c.1061A>T (p.Asp354Val) | |
| X | g.25012934T>C | CA412611847 | ARX | c.1061A>G (p.Asp354Gly) | |
| X | g.25012934T>G | CA412611848 | ARX | c.1061A>C (p.Asp354Ala) | |
| X | g.25012935C>A | CA412611849 | ARX | c.1060G>T (p.Asp354Tyr) | |
| X | g.25012935C= | CA2420209060 | ARX | c.1060G= (p.Asp354=) | |
| X | g.25012935C>G | CA412611850 | ARX | c.1060G>C (p.Asp354His) | |
| X | g.25012935C>T | CA224118 | ARX | c.1060G>A (p.Asp354Asn) | dbSNP |
| X | g.25012936C>A | CA515946931 | ARX | c.1059G>T (p.Pro353=) | gnomAD v4 |
| X | g.25012936C= | CA2420209061 | ARX | c.1059G= (p.Pro353=) | |
| X | g.25012936C>G | CA515946932 | ARX | c.1059G>C (p.Pro353=) | dbSNP |
| X | g.25012936C>T | CA16616468 | ARX | c.1059G>A (p.Pro353=) | ClinVar dbSNP gnomAD v4 |
| X | g.25012937G>A | CA121410 | ARX | c.1058C>T (p.Pro353Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.25012937G>C | CA412611851 | ARX | c.1058C>G (p.Pro353Arg) | |
| X | g.25012937G= | CA2420209062 | ARX | c.1058C= (p.Pro353=) | |
| X | g.25012937G>T | CA412611852 | ARX | c.1058C>A (p.Pro353Gln) | |
| X | g.25012938G>A | CA412611853 | ARX | c.1057C>T (p.Pro353Ser) | |
| X | g.25012938G>C | CA412611854 | ARX | c.1057C>G (p.Pro353Ala) | |
| X | g.25012938G>T | CA412611855 | ARX | c.1057C>A (p.Pro353Thr) | |
| X | g.25012939G>A | CA515946933 | ARX | c.1056C>T (p.Tyr352=) | gnomAD v4 |
| X | g.25012939G>C | CA412611856 | ARX | c.1056C>G (p.Tyr352Ter) | |
| X | g.25012939G>T | CA412611857 | ARX | c.1056C>A (p.Tyr352Ter) | gnomAD v4 |
| X | g.25012940T>A | CA412611858 | ARX | c.1055A>T (p.Tyr352Phe) | |
| X | g.25012940T>C | CA412611860 | ARX | c.1055A>G (p.Tyr352Cys) | |
| X | g.25012940T>G | CA412611859 | ARX | c.1055A>C (p.Tyr352Ser) | |
| X | g.25012941A= | CA2420209063 | ARX | c.1054T= (p.Tyr352=) | |
| X | g.25012941A>C | CA412611861 | ARX | c.1054T>G (p.Tyr352Asp) | |
| X | g.25012941A>G | CA412611862 | ARX | c.1054T>C (p.Tyr352His) | ClinVar dbSNP |
| X | g.25012941A>T | CA412611863 | ARX | c.1054T>A (p.Tyr352Asn) | |
| X | g.25012942G>A | CA515946934 | ARX | c.1053C>T (p.His351=) | gnomAD v4 |
| X | g.25012942G>C | CA412611864 | ARX | c.1053C>G (p.His351Gln) | |
| X | g.25012942G>T | CA412611865 | ARX | c.1053C>A (p.His351Gln) | |
| X | g.25012943T>A | CA412611866 | ARX | c.1052A>T (p.His351Leu) | |
| X | g.25012943T>C | CA412611867 | ARX | c.1052A>G (p.His351Arg) | |
| X | g.25012943T>G | CA412611868 | ARX | c.1052A>C (p.His351Pro) | |
| X | g.25012944G>A | CA412611869 | ARX | c.1051C>T (p.His351Tyr) | gnomAD v4 |
| X | g.25012944G>C | CA412611870 | ARX | c.1051C>G (p.His351Asp) | |
| X | g.25012944G>T | CA412611871 | ARX | c.1051C>A (p.His351Asn) | |
| X | g.25012945C>A | CA515947077 | ARX | c.1050G>T (p.Thr350=) | gnomAD v4 |
| X | g.25012945C= | CA2420209064 | ARX | c.1050G= (p.Thr350=) | |
| X | g.25012945C>G | CA515947078 | ARX | c.1050G>C (p.Thr350=) | gnomAD v4 |
| X | g.25012945C>T | CA515947079 | ARX | c.1050G>A (p.Thr350=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012946G>A | CA412611873 | ARX | c.1049C>T (p.Thr350Met) | gnomAD v4 |
| X | g.25012946G>C | CA412611874 | ARX | c.1049C>G (p.Thr350Arg) | |
| X | g.25012946G>T | CA412611872 | ARX | c.1049C>A (p.Thr350Lys) | |
| X | g.25012947T>A | CA412611877 | ARX | c.1048A>T (p.Thr350Ser) | |
| X | g.25012947T>C | CA412611875 | ARX | c.1048A>G (p.Thr350Ala) | |
| X | g.25012947T>G | CA412611876 | ARX | c.1048A>C (p.Thr350Pro) | |
| X | g.25012948C>A | CA412611878 | ARX | c.1047G>T (p.Lys349Asn) | |
| X | g.25012948C>G | CA412611879 | ARX | c.1047G>C (p.Lys349Asn) | |
| X | g.25012948C>T | CA515947080 | ARX | c.1047G>A (p.Lys349=) | |
| X | g.25012949T>A | CA412611880 | ARX | c.1046A>T (p.Lys349Met) | |
| X | g.25012949T>C | CA412611881 | ARX | c.1046A>G (p.Lys349Arg) | ClinVar |
| X | g.25012949T>G | CA412611882 | ARX | c.1046A>C (p.Lys349Thr) | |
| X | g.25012950T>A | CA412611883 | ARX | c.1045A>T (p.Lys349Ter) | |
| X | g.25012950T>C | CA412611884 | ARX | c.1045A>G (p.Lys349Glu) | |
| X | g.25012950T>G | CA412611885 | ARX | c.1045A>C (p.Lys349Gln) | |
| X | g.25012951C>A | CA412611886 | ARX | c.1044G>T (p.Gln348His) | |
| X | g.25012951C= | CA2420209065 | ARX | c.1044G= (p.Gln348=) | |
| X | g.25012951C>G | CA412611887 | ARX | c.1044G>C (p.Gln348His) | |
| X | g.25012951C>T | CA515947081 | ARX | c.1044G>A (p.Gln348=) | dbSNP |
| X | g.25012952T>A | CA412611890 | ARX | c.1043A>T (p.Gln348Leu) | |
| X | g.25012952T>C | CA412611888 | ARX | c.1043A>G (p.Gln348Arg) | |
| X | g.25012952T>G | CA412611889 | ARX | c.1043A>C (p.Gln348Pro) | |
| X | g.25012953G>A | CA412611891 | ARX | c.1042C>T (p.Gln348Ter) | |
| X | g.25012953G>C | CA412611892 | ARX | c.1042C>G (p.Gln348Glu) | |
| X | g.25012953G>T | CA412611893 | ARX | c.1042C>A (p.Gln348Lys) | |
| X | g.25012954G>A | CA515947082 | ARX | c.1041C>T (p.Phe347=) | |
| X | g.25012954G>C | CA16616659 | ARX | c.1041C>G (p.Phe347Leu) | ClinVar dbSNP |
| X | g.25012954G= | CA2420209066 | ARX | c.1041C= (p.Phe347=) | |
| X | g.25012954G>T | CA412611894 | ARX | c.1041C>A (p.Phe347Leu) | gnomAD v4 |
| X | g.25012955A>C | CA412611895 | ARX | c.1040T>G (p.Phe347Cys) | |
| X | g.25012955A>G | CA412611896 | ARX | c.1040T>C (p.Phe347Ser) | |
| X | g.25012955A>T | CA412611897 | ARX | c.1040T>A (p.Phe347Tyr) | gnomAD v4 |
| X | g.25012956A= | CA2420209067 | ARX | c.1039T= (p.Phe347=) | |
| X | g.25012956A>C | CA412611898 | ARX | c.1039T>G (p.Phe347Val) | ClinVar dbSNP |
| X | g.25012956A>G | CA412611899 | ARX | c.1039T>C (p.Phe347Leu) | ClinVar dbSNP |
| X | g.25012956A>T | CA412611900 | ARX | c.1039T>A (p.Phe347Ile) | |
| X | g.25012957G>A | CA515947084 | ARX | c.1038C>T (p.Ala346=) | |
| X | g.25012957G>C | CA515947083 | ARX | c.1038C>G (p.Ala346=) | |
| X | g.25012957G= | CA2420209068 | ARX | c.1038C= (p.Ala346=) | |
| X | g.25012957G>T | CA10373858 | ARX | c.1038C>A (p.Ala346=) | dbSNP ExAC gnomAD v2 |
| X | g.25012958G>A | CA412611902 | ARX | c.1037C>T (p.Ala346Val) | gnomAD v4 |
| X | g.25012958G>C | CA412611903 | ARX | c.1037C>G (p.Ala346Gly) | |
| X | g.25012958G>T | CA412611901 | ARX | c.1037C>A (p.Ala346Asp) | |
| X | g.25012959C>A | CA412611904 | ARX | c.1036G>T (p.Ala346Ser) | |
| X | g.25012959C>G | CA412611905 | ARX | c.1036G>C (p.Ala346Pro) | |
| X | g.25012959C>T | CA412611906 | ARX | c.1036G>A (p.Ala346Thr) | gnomAD v4 |
| X | g.25012960C>A | CA515947085 | ARX | c.1035G>T (p.Arg345=) | |
| X | g.25012960C>G | CA515947087 | ARX | c.1035G>C (p.Arg345=) | |
| X | g.25012960C>T | CA515947086 | ARX | c.1035G>A (p.Arg345=) | gnomAD v4 |
| X | g.25012961C>A | CA412611907 | ARX | c.1034G>T (p.Arg345Leu) | gnomAD v4 |
| X | g.25012961C>G | CA412611908 | ARX | c.1034G>C (p.Arg345Pro) | |
| X | g.25012961C>T | CA412611909 | ARX | c.1034G>A (p.Arg345Gln) | gnomAD v4 |
| X | g.25012962G>A | CA412611910 | ARX | c.1033C>T (p.Arg345Trp) | gnomAD v4 |
| X | g.25012962G>C | CA412611911 | ARX | c.1033C>G (p.Arg345Gly) | |
| X | g.25012962G= | CA2420209069 | ARX | c.1033C= (p.Arg345=) | |
| X | g.25012962G>T | CA515947088 | ARX | c.1033C>A (p.Arg345=) | ClinVar dbSNP gnomAD v4 |
| X | g.25012963C>A | CA412611912 | ARX | c.1032G>T (p.Glu344Asp) | |
| X | g.25012963C>G | CA412611913 | ARX | c.1032G>C (p.Glu344Asp) | |
| X | g.25012963C>T | CA515947089 | ARX | c.1032G>A (p.Glu344=) | |
| X | g.25012964T>A | CA412611914 | ARX | c.1031A>T (p.Glu344Val) | |
| X | g.25012964T>C | CA412611915 | ARX | c.1031A>G (p.Glu344Gly) | |
| X | g.25012964T>G | CA412611916 | ARX | c.1031A>C (p.Glu344Ala) | |
| X | g.25012965C>A | CA412611918 | ARX | c.1030G>T (p.Glu344Ter) | |
| X | g.25012965C>G | CA412611919 | ARX | c.1030G>C (p.Glu344Gln) | |
| X | g.25012965C>T | CA412611917 | ARX | c.1030G>A (p.Glu344Lys) | |
| X | g.25012966C>A | CA515947090 | ARX | c.1029G>T (p.Leu343=) | gnomAD v4 |
| X | g.25012966C>G | CA515947091 | ARX | c.1029G>C (p.Leu343=) | |
| X | g.25012966C>T | CA515947092 | ARX | c.1029G>A (p.Leu343=) | |
| X | g.25012967A= | CA2420209070 | ARX | c.1028T= (p.Leu343=) | |
| X | g.25012967A>C | CA412611920 | ARX | c.1028T>G (p.Leu343Arg) | |
| X | g.25012967A>G | CA412611921 | ARX | c.1028T>C (p.Leu343Pro) | |
| X | g.25012967A>T | CA213171 | ARX | c.1028T>A (p.Leu343Gln) | ClinVar dbSNP |
| X | g.25012968G>A | CA10373859 | ARX | c.1027C>T (p.Leu343=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25012968G>C | CA412611922 | ARX | c.1027C>G (p.Leu343Val) | |
| X | g.25012968G= | CA2420209071 | ARX | c.1027C= (p.Leu343=) | |
| X | g.25012968G>T | CA412611923 | ARX | c.1027C>A (p.Leu343Met) | |
| X | g.25012969T>A | CA412611925 | ARX | c.1026A>T (p.Glu342Asp) | |
| X | g.25012969T>C | CA515947093 | ARX | c.1026A>G (p.Glu342=) | ClinVar gnomAD v4 |
| X | g.25012969T>G | CA412611924 | ARX | c.1026A>C (p.Glu342Asp) | |
| X | g.25012970T>A | CA412611926 | ARX | c.1025A>T (p.Glu342Val) | |
| X | g.25012970T>C | CA224116 | ARX | c.1025A>G (p.Glu342Gly) | dbSNP |
| X | g.25012970T>G | CA412611927 | ARX | c.1025A>C (p.Glu342Ala) | |
| X | g.25012970T= | CA2420209072 | ARX | c.1025A= (p.Glu342=) | |
| X | g.25012971C>A | CA412611928 | ARX | c.1024G>T (p.Glu342Ter) | dbSNP gnomAD v4 |
| X | g.25012971C>G | CA412611929 | ARX | c.1024G>C (p.Glu342Gln) | |
| X | g.25012971C>T | CA412611930 | ARX | c.1024G>A (p.Glu342Lys) | COSMIC |
| X | g.25012972C>A | CA412611932 | ARX | c.1023G>T (p.Glu341Asp) | |
| X | g.25012972C= | CA2420209073 | ARX | c.1023G= (p.Glu341=) | |
| X | g.25012972C>G | CA412611931 | ARX | c.1023G>C (p.Glu341Asp) | |
| X | g.25012972C>T | CA10373860 | ARX | c.1023G>A (p.Glu341=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25012973del | CA2519842814 | ARX | c.1022del (p.Glu341GlyfsTer23) | |
| X | g.25012973T>A | CA412611933 | ARX | c.1022A>T (p.Glu341Val) | |
| X | g.25012973T>C | CA412611935 | ARX | c.1022A>G (p.Glu341Gly) | |
| X | g.25012973T>G | CA412611934 | ARX | c.1022A>C (p.Glu341Ala) | |
| X | g.25012974C>A | CA412611936 | ARX | c.1021G>T (p.Glu341Ter) | |
| X | g.25012974C>G | CA412611938 | ARX | c.1021G>C (p.Glu341Gln) | |
| X | g.25012974C>T | CA412611937 | ARX | c.1021G>A (p.Glu341Lys) | |
| X | g.25012975C>A | CA515947094 | ARX | c.1020G>T (p.Leu340=) | gnomAD v4 |
| X | g.25012975C>G | CA515947096 | ARX | c.1020G>C (p.Leu340=) | |
| X | g.25012975C>T | CA515947095 | ARX | c.1020G>A (p.Leu340=) | gnomAD v4 |
| X | g.25012976A>C | CA412611939 | ARX | c.1019T>G (p.Leu340Arg) | |
| X | g.25012976A>G | CA412611941 | ARX | c.1019T>C (p.Leu340Pro) | |
| X | g.25012976A>T | CA412611940 | ARX | c.1019T>A (p.Leu340Gln) | |
| X | g.25012977G>A | CA515947097 | ARX | c.1018C>T (p.Leu340=) | |
| X | g.25012977G>C | CA412611942 | ARX | c.1018C>G (p.Leu340Val) | |
| X | g.25012977G>T | CA412611943 | ARX | c.1018C>A (p.Leu340Met) | gnomAD v4 |
| X | g.25012978C>A | CA412611944 | ARX | c.1017G>T (p.Gln339His) | |
| X | g.25012978C= | CA2420209074 | ARX | c.1017G= (p.Gln339=) | |
| X | g.25012978C>G | CA412611945 | ARX | c.1017G>C (p.Gln339His) | ClinVar dbSNP |
| X | g.25012978C>T | CA515947098 | ARX | c.1017G>A (p.Gln339=) | ClinVar |
| X | g.25012979T>A | CA412611946 | ARX | c.1016A>T (p.Gln339Leu) | |
| X | g.25012979T>C | CA412611947 | ARX | c.1016A>G (p.Gln339Arg) | gnomAD v4 |
| X | g.25012979T>G | CA412611948 | ARX | c.1016A>C (p.Gln339Pro) | |
| X | g.25012980G>A | CA412611951 | ARX | c.1015C>T (p.Gln339Ter) | |
| X | g.25012980G>C | CA412611949 | ARX | c.1015C>G (p.Gln339Glu) | |
| X | g.25012980G>T | CA412611950 | ARX | c.1015C>A (p.Gln339Lys) | |
| X | g.25012981G>A | CA515947099 | ARX | c.1014C>T (p.Tyr338=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.25012981G>C | CA412611952 | ARX | c.1014C>G (p.Tyr338Ter) | |
| X | g.25012981G= | CA2420209075 | ARX | c.1014C= (p.Tyr338=) | |
| X | g.25012981G>T | CA412611953 | ARX | c.1014C>A (p.Tyr338Ter) | |
| X | g.25012982T>A | CA412611954 | ARX | c.1013A>T (p.Tyr338Phe) | |
| X | g.25012982T>C | CA412611955 | ARX | c.1013A>G (p.Tyr338Cys) | |
| X | g.25012982T>G | CA412611956 | ARX | c.1013A>C (p.Tyr338Ser) | |
| X | g.25012982delinsGG | CA2695232858 | ARX | c.1013delinsCC (p.Tyr338SerfsTer?) | |
| X | g.25012983_25012986dup | CA2695232857 | ARX | c.1010_1013dup (p.Tyr338Ter) | |
| X | g.25012983A>C | CA412611957 | ARX | c.1012T>G (p.Tyr338Asp) | |
| X | g.25012983A>G | CA412611959 | ARX | c.1012T>C (p.Tyr338His) | |
| X | g.25012983A>T | CA412611958 | ARX | c.1012T>A (p.Tyr338Asn) | |
| X | g.25012984G>A | CA515947100 | ARX | c.1011C>T (p.Ser337=) | |
| X | g.25012984G>C | CA412611960 | ARX | c.1011C>G (p.Ser337Arg) | |
| X | g.25012984G>T | CA412611961 | ARX | c.1011C>A (p.Ser337Arg) | |
| X | g.25012985C>A | CA412611962 | ARX | c.1010G>T (p.Ser337Ile) | |
| X | g.25012985C>G | CA412611963 | ARX | c.1010G>C (p.Ser337Thr) | |
| X | g.25012985C>T | CA412611964 | ARX | c.1010G>A (p.Ser337Asn) | gnomAD v4 |
| X | g.25012986T>A | CA412611965 | ARX | c.1009A>T (p.Ser337Cys) | |
| X | g.25012986T>C | CA412611966 | ARX | c.1009A>G (p.Ser337Gly) | gnomAD v4 |
| X | g.25012986T>G | CA412611967 | ARX | c.1009A>C (p.Ser337Arg) | |
| X | g.25012991_25012999del | CA2695232859 | ARX | c.1001_1009del (p.Thr334_Thr336del) | |
| X | g.25012987G>A | CA515947101 | ARX | c.1008C>T (p.Thr336=) | |
| X | g.25012987G>C | CA515947102 | ARX | c.1008C>G (p.Thr336=) | |
| X | g.25012987G>T | CA515947103 | ARX | c.1008C>A (p.Thr336=) | ClinVar dbSNP |
| X | g.25012987_25012993delinsGGTGAAC | CA2420209076 | ARX | c.1002_1008delinsGTTCACC (p.Thr334=) | |
| X | g.25012988G>A | CA412611968 | ARX | c.1007C>T (p.Thr336Ile) | |
| X | g.25012988G>C | CA412611969 | ARX | c.1007C>G (p.Thr336Ser) | |
| X | g.25012988G>T | CA412611970 | ARX | c.1007C>A (p.Thr336Asn) | |
| X | g.25012988_25012993delinsTGGTACA | CA358357 | ARX | c.1002_1007delinsTGTACCA (p.Phe335ValfsTer?) | ClinVar dbSNP |
| X | g.25012989T>A | CA412611973 | ARX | c.1006A>T (p.Thr336Ser) | |
| X | g.25012989T>C | CA412611971 | ARX | c.1006A>G (p.Thr336Ala) | |
| X | g.25012989T>G | CA412611972 | ARX | c.1006A>C (p.Thr336Pro) | |
| X | g.25012990G>A | CA515947104 | ARX | c.1005C>T (p.Phe335=) | ClinVar dbSNP gnomAD v4 |
| X | g.25012990G>C | CA412611974 | ARX | c.1005C>G (p.Phe335Leu) | |
| X | g.25012990G= | CA2420209077 | ARX | c.1005C= (p.Phe335=) | |
| X | g.25012990G>T | CA412611975 | ARX | c.1005C>A (p.Phe335Leu) | |
| X | g.25012991A>C | CA412611976 | ARX | c.1004T>G (p.Phe335Cys) | |
| X | g.25012991A>G | CA412611977 | ARX | c.1004T>C (p.Phe335Ser) | |
| X | g.25012991A>T | CA412611978 | ARX | c.1004T>A (p.Phe335Tyr) | |
| X | g.25012992A>C | CA412611981 | ARX | c.1003T>G (p.Phe335Val) | |
| X | g.25012992A>G | CA412611980 | ARX | c.1003T>C (p.Phe335Leu) | gnomAD v4 |
| X | g.25012992A>T | CA412611979 | ARX | c.1003T>A (p.Phe335Ile) | |
| X | g.25012993C>A | CA515947105 | ARX | c.1002G>T (p.Thr334=) | |
| X | g.25012993C= | CA2420209078 | ARX | c.1002G= (p.Thr334=) | |
| X | g.25012993C>G | CA515947106 | ARX | c.1002G>C (p.Thr334=) | |
| X | g.25012993C>T | CA515947107 | ARX | c.1002G>A (p.Thr334=) | dbSNP gnomAD v2 gnomAD v4 |