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.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) | |
| X | g.25010284del | CA213326 | ARX | c.1096del (p.Asp366ThrfsTer2) | ClinVar dbSNP |
| X | g.25010284C>A | CA515748698 | ARX | c.1095G>T (p.Leu365=) | ClinVar gnomAD v4 |
| X | g.25010284C>G | CA515748702 | ARX | c.1095G>C (p.Leu365=) | ClinVar |
| X | g.25010284C>T | CA515748700 | ARX | c.1095G>A (p.Leu365=) | |
| X | g.25010285A>C | CA412611757 | ARX | c.1094T>G (p.Leu365Arg) | |
| X | g.25010285A>G | CA412611758 | ARX | c.1094T>C (p.Leu365Pro) | |
| X | g.25010285A>T | CA412611759 | ARX | c.1094T>A (p.Leu365Gln) | |
| X | g.25010286G>A | CA515748705 | ARX | c.1093C>T (p.Leu365=) | dbSNP |
| X | g.25010286G>C | CA412611760 | ARX | c.1093C>G (p.Leu365Val) | |
| X | g.25010286G= | CA2420208039 | ARX | c.1093C= (p.Leu365=) | |
| X | g.25010286G>T | CA412611761 | ARX | c.1093C>A (p.Leu365Met) | COSMIC |
| X | g.25010287C>A | CA412611762 | ARX | c.1092G>T (p.Arg364Ser) | |
| X | g.25010287C>G | CA412611763 | ARX | c.1092G>C (p.Arg364Ser) | |
| X | g.25010287C>T | CA515748709 | ARX | c.1092G>A (p.Arg364=) | |
| X | g.25010288C>A | CA412611764 | ARX | c.1091G>T (p.Arg364Met) | |
| X | g.25010288C>G | CA412611765 | ARX | c.1091G>C (p.Arg364Thr) | |
| X | g.25010288C>T | CA412611766 | ARX | c.1091G>A (p.Arg364Lys) | |
| X | g.25010289T>A | CA412611767 | ARX | c.1090A>T (p.Arg364Trp) | COSMIC |
| X | g.25010289T>C | CA412611768 | ARX | c.1090A>G (p.Arg364Gly) | |
| X | g.25010289T>G | CA515748712 | ARX | c.1090A>C (p.Arg364=) | |
| X | g.25010290C>A | CA412611769 | ARX | c.1089G>T (p.Met363Ile) | gnomAD v4 |
| X | g.25010290C>G | CA412611770 | ARX | c.1089G>C (p.Met363Ile) | |
| X | g.25010290C>T | CA412611771 | ARX | c.1089G>A (p.Met363Ile) | |
| X | g.25010291A= | CA2420208040 | ARX | c.1088T= (p.Met363=) | |
| X | g.25010291A>C | CA412611772 | ARX | c.1088T>G (p.Met363Arg) | |
| X | g.25010291A>G | CA327732824 | ARX | c.1088T>C (p.Met363Thr) | dbSNP |
| X | g.25010291A>T | CA412611773 | ARX | c.1088T>A (p.Met363Lys) | |
| X | g.25010292T>A | CA412611774 | ARX | c.1087A>T (p.Met363Leu) | |
| X | g.25010292T>C | CA10373839 | ARX | c.1087A>G (p.Met363Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.25010292T>G | CA412611775 | ARX | c.1087A>C (p.Met363Leu) | gnomAD v4 |
| X | g.25010292T= | CA2420208041 | ARX | c.1087A= (p.Met363=) | |
| X | g.25010293G>A | CA515748720 | ARX | c.1086C>T (p.Ala362=) | |
| X | g.25010293G>C | CA515748722 | ARX | c.1086C>G (p.Ala362=) | |
| X | g.25010293G>T | CA515748724 | ARX | c.1086C>A (p.Ala362=) | |
| X | g.25010294G>A | CA412611776 | ARX | c.1085C>T (p.Ala362Val) | |
| X | g.25010294G>C | CA412611777 | ARX | c.1085C>G (p.Ala362Gly) | |
| X | g.25010294G>T | CA412611778 | ARX | c.1085C>A (p.Ala362Asp) | |
| X | g.25010295C>A | CA412611780 | ARX | c.1084G>T (p.Ala362Ser) | |
| X | g.25010295C>G | CA412611781 | ARX | c.1084G>C (p.Ala362Pro) | |
| X | g.25010295C>T | CA412611779 | ARX | c.1084G>A (p.Ala362Thr) | |
| X | g.25010296C>A | CA515748730 | ARX | c.1083G>T (p.Leu361=) | gnomAD v4 |
| X | g.25010296C= | CA2420208042 | ARX | c.1083G= (p.Leu361=) | |
| X | g.25010296C>G | CA515748731 | ARX | c.1083G>C (p.Leu361=) | ClinVar |
| X | g.25010296C>T | CA327732825 | ARX | c.1083G>A (p.Leu361=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.25010297A>C | CA412611783 | ARX | c.1082T>G (p.Leu361Arg) | |
| X | g.25010297A>G | CA412611782 | ARX | c.1082T>C (p.Leu361Pro) | |
| X | g.25010297A>T | CA412611784 | ARX | c.1082T>A (p.Leu361Gln) | |
| X | g.25010298G>A | CA515748737 | ARX | c.1081C>T (p.Leu361=) | |
| X | g.25010298G>C | CA412611785 | ARX | c.1081C>G (p.Leu361Val) | |
| X | g.25010298G>T | CA412611786 | ARX | c.1081C>A (p.Leu361Met) | |
| X | g.25010299T>A | CA412611787 | ARX | c.1080A>T (p.Glu360Asp) | |
| X | g.25010299T>C | CA515748740 | ARX | c.1080A>G (p.Glu360=) | |
| X | g.25010299T>G | CA412611788 | ARX | c.1080A>C (p.Glu360Asp) | |
| X | g.25010300T>A | CA412611789 | ARX | c.1079A>T (p.Glu360Val) | |
| X | g.25010300T>C | CA412611790 | ARX | c.1079A>G (p.Glu360Gly) | |
| X | g.25010300T>G | CA412611791 | ARX | c.1079A>C (p.Glu360Ala) | |
| X | g.25010301C>A | CA412611792 | ARX | c.1078G>T (p.Glu360Ter) | |
| X | g.25010301C= | CA2420208043 | ARX | c.1078G= (p.Glu360=) | |
| X | g.25010301C>G | CA412611793 | ARX | c.1078G>C (p.Glu360Gln) | dbSNP COSMIC |
| X | g.25010301C>T | CA412611794 | ARX | c.1078G>A (p.Glu360Lys) | |
| X | g.25010302C>A | CA412611795 | ARX | c.1077G>T (p.Glu359Asp) | |
| X | g.25010302C= | CA2420208044 | ARX | c.1077G= (p.Glu359=) | |
| X | g.25010302C>G | CA412611796 | ARX | c.1077G>C (p.Glu359Asp) | |
| X | g.25010302C>T | CA515748745 | ARX | c.1077G>A (p.Glu359=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25010303T>A | CA412611797 | ARX | c.1076A>T (p.Glu359Val) | |
| X | g.25010303T>C | CA412611798 | ARX | c.1076A>G (p.Glu359Gly) | |
| X | g.25010303T>G | CA412611799 | ARX | c.1076A>C (p.Glu359Ala) | |
| X | g.25010304C>A | CA412611802 | ARX | c.1075G>T (p.Glu359Ter) | |
| X | g.25010304C>G | CA412611800 | ARX | c.1075G>C (p.Glu359Gln) | |
| X | g.25010304C>T | CA412611801 | ARX | c.1075G>A (p.Glu359Lys) | |
| X | g.25010305C>A | CA412611803 | ARX | c.1074G>T (p.Arg358Ser) | |
| X | g.25010305C>G | CA412611804 | ARX | c.1074G>C (p.Arg358Ser) | |
| X | g.25010305C>T | CA515748751 | ARX | c.1074G>A (p.Arg358=) | |
| X | g.25010306C>A | CA412611805 | ARX | c.1074-1G>T (n.1074-1G>T) | |
| X | g.25010306C>G | CA412611806 | ARX | c.1074-1G>C (n.1074-1G>C) | |
| X | g.25010306C>T | CA412611807 | ARX | c.1074-1G>A (n.1074-1G>A) | dbSNP |
| X | g.25010307T>A | CA412611808 | ARX | c.1074-2A>T (n.1074-2A>T) | |
| X | g.25010307T>C | CA412611809 | ARX | c.1074-2A>G (n.1074-2A>G) | |
| X | g.25010307T>G | CA412611810 | ARX | c.1074-2A>C (n.1074-2A>C) | |
| X | g.25010308A= | CA2420208045 | ARX | c.1074-3T= (n.1074-3T=) | |
| X | g.25010308A>G | CA171140 | ARX | c.1074-3T>C (n.1074-3T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25010310A>G | CA2693353165 | ARX | c.1074-5T>C (n.1074-5T>C) | ClinVar gnomAD v4 |
| X | g.25010312G>A | CA2579637407 | ARX | c.1074-7C>T (n.1074-7C>T) | |
| X | g.25010312G>T | CA2693353166 | ARX | c.1074-7C>A (n.1074-7C>A) | ClinVar gnomAD v4 |
| X | g.25010313A>C | CA2820110299 | ARX | c.1074-8T>G (n.1074-8T>G) | |
| X | g.25010315A>G | CA2693353167 | ARX | c.1074-10T>C (n.1074-10T>C) | gnomAD v4 |
| X | g.25010316G>C | CA2693353168 | ARX | c.1074-11C>G (n.1074-11C>G) | gnomAD v4 |
| X | g.25010317C= | CA2420208046 | ARX | c.1074-12G= (n.1074-12G=) | |
| X | g.25010317C>G | CA641006236 | ARX | c.1074-12G>C (n.1074-12G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25010323A>G | CA2693353169 | ARX | c.1074-18T>C (n.1074-18T>C) | gnomAD v4 |
| X | g.25010324C>G | CA2693353170 | ARX | c.1074-19G>C (n.1074-19G>C) | gnomAD v4 |
| X | g.25010324C>T | CA2547037191 | ARX | c.1074-19G>A (n.1074-19G>A) | |
| X | g.25010325A= | CA2420208047 | ARX | c.1074-20T= (n.1074-20T=) | |
| X | g.25010325A>C | CA2420208048 | ARX | c.1074-20T>G (n.1074-20T>G) | ClinVar dbSNP gnomAD v4 |
| X | g.25010325A>T | CA2420208049 | ARX | c.1074-20T>A (n.1074-20T>A) | dbSNP |
| X | g.25010326G>A | CA2420208051 | ARX | c.1074-21C>T (n.1074-21C>T) | dbSNP |
| X | g.25010326G= | CA2420208050 | ARX | c.1074-21C= (n.1074-21C=) | |
| X | g.25010327A= | CA2420208052 | ARX | c.1074-22T= (n.1074-22T=) | |
| X | g.25010327A>G | CA641006237 | ARX | c.1074-22T>C (n.1074-22T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25010328C>G | CA2693353171 | ARX | c.1074-23G>C (n.1074-23G>C) | gnomAD v4 |
| X | g.25010329_25010330del | CA2693353172 | ARX | c.1074-25_1074-24del (n.1074-25_1074-24del) | gnomAD v4 |
| X | g.25010331G>A | CA2693353173 | ARX | c.1074-26C>T (n.1074-26C>T) | gnomAD v4 |
| X | g.25010333G>A | CA2579637408 | ARX | c.1074-28C>T (n.1074-28C>T) | |
| X | g.25010333G= | CA2420208053 | ARX | c.1074-28C= (n.1074-28C=) | |
| X | g.25010333G>T | CA10373840 | ARX | c.1074-28C>A (n.1074-28C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.25010339T>C | CA10373841 | ARX | c.1074-34A>G (n.1074-34A>G) | dbSNP ExAC |
| X | g.25010339T= | CA2420208054 | ARX | c.1074-34A= (n.1074-34A=) | |
| X | g.25010341C= | CA2420208055 | ARX | c.1074-36G= (n.1074-36G=) | |
| X | g.25010341C>T | CA10373842 | ARX | c.1074-36G>A (n.1074-36G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25010343G>A | CA2420208056 | ARX | c.1074-38C>T (n.1074-38C>T) | dbSNP |
| X | g.25010343G= | CA2420208057 | ARX | c.1074-38C= (n.1074-38C=) | |
| X | g.25010343G>T | CA2693353174 | ARX | c.1074-38C>A (n.1074-38C>A) | gnomAD v4 |
| X | g.25010344G>T | CA2693353175 | ARX | c.1074-39C>A (n.1074-39C>A) | gnomAD v4 |
| X | g.25010345C>A | CA2693353176 | ARX | c.1074-40G>T (n.1074-40G>T) | gnomAD v4 |
| X | g.25010345C>T | CA2693353177 | ARX | c.1074-40G>A (n.1074-40G>A) | gnomAD v4 |
| X | g.25010348del | CA2579637411 | ARX | c.1074-40del (n.1074-40del) | |
| X | g.25010346C>T | CA2519987096 | ARX | c.1074-41G>A (n.1074-41G>A) | gnomAD v4 |
| X | g.25010347C= | CA2420208058 | ARX | c.1074-42G= (n.1074-42G=) | |
| X | g.25010347C>T | CA10373843 | ARX | c.1074-42G>A (n.1074-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.25010350G= | CA2420208059 | ARX | c.1074-45C= (n.1074-45C=) | |
| X | g.25010350G>T | CA327732826 | ARX | c.1074-45C>A (n.1074-45C>A) | dbSNP |
| X | g.25010351C>A | CA2579637414 | ARX | c.1074-46G>T (n.1074-46G>T) | |
| X | g.25010352A= | CA2420208060 | ARX | c.1074-47T= (n.1074-47T=) | |
| X | g.25010352A>G | CA874145282 | ARX | c.1074-47T>C (n.1074-47T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25010353A>C | CA2820110305 | ARX | c.1074-48T>G (n.1074-48T>G) | |
| X | g.25010355G>T | CA2693353178 | ARX | c.1074-50C>A (n.1074-50C>A) | gnomAD v4 |
| X | g.25010356C>A | CA10373844 | ARX | c.1074-51G>T (n.1074-51G>T) | dbSNP ExAC |
| X | g.25010356C= | CA2420208061 | ARX | c.1074-51G= (n.1074-51G=) | |
| X | g.25010356C>T | CA2738363634 | ARX | c.1074-51G>A (n.1074-51G>A) | dbSNP |
| X | g.25010358del | CA2563880333 | ARX | c.1074-51del (n.1074-51del) | |
| X | g.25010357C>A | CA2693353179 | ARX | c.1074-52G>T (n.1074-52G>T) | gnomAD v4 |
| X | g.25010357C= | CA2420208062 | ARX | c.1074-52G= (n.1074-52G=) | |
| X | g.25010357C>G | CA641006238 | ARX | c.1074-52G>C (n.1074-52G>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.25010358C>A | CA2693353180 | ARX | c.1074-53G>T (n.1074-53G>T) | gnomAD v4 |
| X | g.25010358C>T | CA2693353181 | ARX | c.1074-53G>A (n.1074-53G>A) | gnomAD v4 |
| X | g.25010359T>A | CA2579637416 | ARX | c.1074-54A>T (n.1074-54A>T) | |
| X | g.25010360C= | CA2420208063 | ARX | c.1074-55G= (n.1074-55G=) | |
| X | g.25010360C>T | CA1131756330 | ARX | c.1074-55G>A (n.1074-55G>A) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25010362C>A | CA2693353182 | ARX | c.1074-57G>T (n.1074-57G>T) | gnomAD v4 |
| X | g.25010362C>T | CA2693353183 | ARX | c.1074-57G>A (n.1074-57G>A) | gnomAD v4 |
| X | g.25010363A>C | CA2579637417 | ARX | c.1074-58T>G (n.1074-58T>G) | |
| X | g.25010364G>A | CA874145288 | ARX | c.1074-59C>T (n.1074-59C>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25010364G>C | CA2693353184 | ARX | c.1074-59C>G (n.1074-59C>G) | gnomAD v4 |
| X | g.25010364G= | CA2420208064 | ARX | c.1074-59C= (n.1074-59C=) | |
| X | g.25010365C>A | CA2579637419 | ARX | c.1074-60G>T (n.1074-60G>T) | gnomAD v4 |
| X | g.25010368T>C | CA2693353185 | ARX | c.1074-63A>G (n.1074-63A>G) | gnomAD v4 |
| X | g.25010368T>G | CA2420208065 | ARX | c.1074-63A>C (n.1074-63A>C) | dbSNP gnomAD v4 |
| X | g.25010368T= | CA2420208066 | ARX | c.1074-63A= (n.1074-63A=) | |
| X | g.25010369T>A | CA2420208068 | ARX | c.1074-64A>T (n.1074-64A>T) | dbSNP |
| X | g.25010369T= | CA2420208067 | ARX | c.1074-64A= (n.1074-64A=) | |
| X | g.25010370T>C | CA2579637420 | ARX | c.1074-65A>G (n.1074-65A>G) | |
| X | g.25010373T>C | CA874145289 | ARX | c.1074-68A>G (n.1074-68A>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.25010373T= | CA2420208069 | ARX | c.1074-68A= (n.1074-68A=) |