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.30304157_30306387delinsTGGAAATTATATATATTTCCAAATAAA | CA2580100530 | ClinVar | ||
| X | g.30304561_30304935delinsTGTGTGGCCCACATGACTTTATATCTTTGTACAGAGCATTTCCAGCATCATATCATCCATGCTGACTGTGCCGATGATGGGCCTGAAGAACAGTTCAGCAATGACATTGGCATTGATGAATCTCAGCAGGAAAAGGGTACTATTAAGTTCGATGAATCTGTCATGGGGCCCTTGGTGCGTCATCCTGGTGTGTTCACTGAGTATTTGCTGAGTTCCCCACTGGAGTCCCTGAATGTACTTCACGCACTGCAGGCCCGGCACGTCTGGAGGGAGAAAAATCTCTTTGTTATAAAACAGCTCACCACAGAGTCCTTTGCTAGCTTTTTAAAAATAGCCATTTCTGTTTCATCCCAATTAAACAAGACCCAAAGCTTC | CA2422039158 | NR0B1 | c.1169-112_*18delinsGAAGCTTTGGGTCTTGTTTAATTGGGATGAAACAGAAATGGCTATTTTTAAAAAGCTAGCAAAGGACTCTGTGGTGAGCTGTTTTATAACAAAGAGATTTTTCTCCCTCCAGACGTGCCGGGCCTGCAGTGCGTGAAGTACATTCAGGGACTCCAGTGGGGAACTCAGCAAATACTCAGTGAACACACCAGGATGACGCACCAAGGGCCCCATGACAGATTCATCGAACTTAATAGTACCCTTTTCCTGCTGAGATTCATCAATGCCAATGTCATTGCTGAACTGTTCTTCAGGCCCATCATCGGCACAGTCAGCATGGATGATATGATGCTGGAAATGCTCTGTACAAAGATATAAAGTCATGTGGGCCACACA | |
| X | g.30304562_30304935delinsCA | CA658653867 | NR0B1 | c.1169-112_*17delinsTG | ClinVar dbSNP |
| X | g.30304806A>C | CA412545694 | NR0B1 | c.1186T>G (p.Cys396Gly) | |
| X | g.30304806A>G | CA412545696 | NR0B1 | c.1186T>C (p.Cys396Arg) | |
| X | g.30304806A>T | CA412545697 | NR0B1 | c.1186T>A (p.Cys396Ser) | |
| X | g.30304807C>A | CA412545700 | NR0B1 | c.1185G>T (p.Gln395His) | |
| X | g.30304807C>G | CA412545702 | NR0B1 | c.1185G>C (p.Gln395His) | |
| X | g.30304807C>T | CA515716979 | NR0B1 | c.1185G>A (p.Gln395=) | |
| X | g.30304808T>A | CA412545709 | NR0B1 | c.1184A>T (p.Gln395Leu) | |
| X | g.30304808T>C | CA412545707 | NR0B1 | c.1184A>G (p.Gln395Arg) | |
| X | g.30304808T>G | CA412545705 | NR0B1 | c.1184A>C (p.Gln395Pro) | |
| X | g.30304809G>A | CA255629 | NR0B1 | c.1183C>T (p.Gln395Ter) | ClinVar dbSNP |
| X | g.30304809G>C | CA412545712 | NR0B1 | c.1183C>G (p.Gln395Glu) | |
| X | g.30304809G= | CA2422039235 | NR0B1 | c.1183C= (p.Gln395=) | |
| X | g.30304809G>T | CA412545713 | NR0B1 | c.1183C>A (p.Gln395Lys) | |
| X | g.30304810C>A | CA515716990 | NR0B1 | c.1182G>T (p.Leu394=) | |
| X | g.30304810C= | CA2422039236 | NR0B1 | c.1182G= (p.Leu394=) | |
| X | g.30304810C>G | CA515716992 | NR0B1 | c.1182G>C (p.Leu394=) | |
| X | g.30304810C>T | CA515716995 | NR0B1 | c.1182G>A (p.Leu394=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304811A>C | CA412545715 | NR0B1 | c.1181T>G (p.Leu394Arg) | |
| X | g.30304811A>G | CA412545716 | NR0B1 | c.1181T>C (p.Leu394Pro) | |
| X | g.30304811A>T | CA412545717 | NR0B1 | c.1181T>A (p.Leu394Gln) | |
| X | g.30304812G>A | CA515716997 | NR0B1 | c.1180C>T (p.Leu394=) | |
| X | g.30304812G>C | CA412545720 | NR0B1 | c.1180C>G (p.Leu394Val) | |
| X | g.30304812G>T | CA412545722 | NR0B1 | c.1180C>A (p.Leu394Met) | |
| X | g.30304812_30304815del | CA2695232154 | NR0B1 | c.1177_1180del (p.Gly393CysfsTer4) | |
| X | g.30304813G>A | CA515717001 | NR0B1 | c.1179C>T (p.Gly393=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304813G>C | CA515717003 | NR0B1 | c.1179C>G (p.Gly393=) | |
| X | g.30304813G= | CA2422039237 | NR0B1 | c.1179C= (p.Gly393=) | |
| X | g.30304813G>T | CA515717006 | NR0B1 | c.1179C>A (p.Gly393=) | dbSNP |
| X | g.30304814C>A | CA412545725 | NR0B1 | c.1178G>T (p.Gly393Val) | |
| X | g.30304814C>G | CA412545726 | NR0B1 | c.1178G>C (p.Gly393Ala) | |
| X | g.30304814C>T | CA412545729 | NR0B1 | c.1178G>A (p.Gly393Asp) | COSMIC |
| X | g.30304816del | CA2693382733 | NR0B1 | c.1178del (p.Gly393AlafsTer5) | gnomAD v4 |
| X | g.30304815C>A | CA412545734 | NR0B1 | c.1177G>T (p.Gly393Cys) | |
| X | g.30304815C>G | CA412545733 | NR0B1 | c.1177G>C (p.Gly393Arg) | |
| X | g.30304815C>T | CA412545732 | NR0B1 | c.1177G>A (p.Gly393Ser) | |
| X | g.30304816C>A | CA515717017 | NR0B1 | c.1176G>T (p.Pro392=) | |
| X | g.30304816C= | CA2422039238 | NR0B1 | c.1176G= (p.Pro392=) | |
| X | g.30304816C>G | CA515717019 | NR0B1 | c.1176G>C (p.Pro392=) | |
| X | g.30304816C>T | CA10376281 | NR0B1 | c.1176G>A (p.Pro392=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.30304817G>A | CA412545737 | NR0B1 | c.1175C>T (p.Pro392Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.30304817G>C | CA412545739 | NR0B1 | c.1175C>G (p.Pro392Arg) | |
| X | g.30304817G= | CA2422039239 | NR0B1 | c.1175C= (p.Pro392=) | |
| X | g.30304817G>T | CA412545741 | NR0B1 | c.1175C>A (p.Pro392Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304818G>A | CA412545743 | NR0B1 | c.1174C>T (p.Pro392Ser) | |
| X | g.30304818G>C | CA412545745 | NR0B1 | c.1174C>G (p.Pro392Ala) | |
| X | g.30304818G>T | CA412545747 | NR0B1 | c.1174C>A (p.Pro392Thr) | |
| X | g.30304819C>A | CA515717038 | NR0B1 | c.1173G>T (p.Val391=) | |
| X | g.30304819C>G | CA515717041 | NR0B1 | c.1173G>C (p.Val391=) | |
| X | g.30304819C>T | CA515717044 | NR0B1 | c.1173G>A (p.Val391=) | |
| X | g.30304820A>C | CA412545749 | NR0B1 | c.1172T>G (p.Val391Gly) | |
| X | g.30304820A>G | CA412545751 | NR0B1 | c.1172T>C (p.Val391Ala) | |
| X | g.30304820A>T | CA412545753 | NR0B1 | c.1172T>A (p.Val391Glu) | |
| X | g.30304821C>A | CA412545755 | NR0B1 | c.1171G>T (p.Val391Leu) | COSMIC |
| X | g.30304821C= | CA2422039240 | NR0B1 | c.1171G= (p.Val391=) | |
| X | g.30304821C>G | CA412545757 | NR0B1 | c.1171G>C (p.Val391Leu) | dbSNP |
| X | g.30304821C>T | CA412545759 | NR0B1 | c.1171G>A (p.Val391Met) | dbSNP gnomAD v4 |
| X | g.30304822G>A | CA10376282 | NR0B1 | c.1170C>T (p.Asp390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304822G>C | CA412545762 | NR0B1 | c.1170C>G (p.Asp390Glu) | |
| X | g.30304822G= | CA2422039241 | NR0B1 | c.1170C= (p.Asp390=) | |
| X | g.30304822G>T | CA412545764 | NR0B1 | c.1170C>A (p.Asp390Glu) | gnomAD v4 |
| X | g.30304823T>A | CA412545767 | NR0B1 | c.1169A>T (p.Asp390Val) | |
| X | g.30304823T>C | CA412545768 | NR0B1 | c.1169A>G (p.Asp390Gly) | |
| X | g.30304823T>G | CA412545770 | NR0B1 | c.1169A>C (p.Asp390Ala) | |
| X | g.30304824C>A | CA412545773 | NR0B1 | c.1169-1G>T (n.1169-1G>T) | ClinVar |
| X | g.30304824C= | CA2422039242 | NR0B1 | c.1169-1G= (n.1169-1G=) | |
| X | g.30304824C>G | CA412545775 | NR0B1 | c.1169-1G>C (n.1169-1G>C) | |
| X | g.30304824C>T | CA412545777 | NR0B1 | c.1169-1G>A (n.1169-1G>A) | ClinVar dbSNP |
| X | g.30304825T>A | CA412545779 | NR0B1 | c.1169-2A>T (n.1169-2A>T) | |
| X | g.30304825T>C | CA412545780 | NR0B1 | c.1169-2A>G (n.1169-2A>G) | |
| X | g.30304825T>G | CA412545782 | NR0B1 | c.1169-2A>C (n.1169-2A>C) | |
| X | g.30304827G>A | CA2693382734 | NR0B1 | c.1169-4C>T (n.1169-4C>T) | gnomAD v4 |
| X | g.30304827G= | CA2422039243 | NR0B1 | c.1169-4C= (n.1169-4C=) | |
| X | g.30304827G>T | CA2693382735 | NR0B1 | c.1169-4C>A (n.1169-4C>A) | gnomAD v4 |
| X | g.30304830_30304831insAGAAAAAGG | CA2422039244 | NR0B1 | c.1169-5_1169-4insTTTTCTCCT (n.1169-5_1169-4insTTTTCTCCT) | dbSNP |
| X | g.30304829G>A | CA327974260 | NR0B1 | c.1169-6C>T (n.1169-6C>T) | dbSNP gnomAD v4 |
| X | g.30304829G= | CA2422039245 | NR0B1 | c.1169-6C= (n.1169-6C=) | |
| X | g.30304829G>T | CA2693382736 | NR0B1 | c.1169-6C>A (n.1169-6C>A) | gnomAD v4 |
| X | g.30304831G>A | CA2820261572 | NR0B1 | c.1169-8C>T (n.1169-8C>T) | |
| X | g.30304831G= | CA2422039246 | NR0B1 | c.1169-8C= (n.1169-8C=) | |
| X | g.30304831G>T | CA874615163 | NR0B1 | c.1169-8C>A (n.1169-8C>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304833G>A | CA2740092078 | NR0B1 | c.1169-10C>T (n.1169-10C>T) | ClinVar |
| X | g.30304835A>G | CA2693382737 | NR0B1 | c.1169-12T>C (n.1169-12T>C) | gnomAD v4 |
| X | g.30304837A>T | CA2693382738 | NR0B1 | c.1169-14T>A (n.1169-14T>A) | gnomAD v4 |
| X | g.30304839T>C | CA327974262 | NR0B1 | c.1169-16A>G (n.1169-16A>G) | dbSNP |
| X | g.30304839T= | CA2422039247 | NR0B1 | c.1169-16A= (n.1169-16A=) | |
| X | g.30304840C>A | CA2693382739 | NR0B1 | c.1169-17G>T (n.1169-17G>T) | gnomAD v4 |
| X | g.30304842C= | CA2422039248 | NR0B1 | c.1169-19G= (n.1169-19G=) | |
| X | g.30304845dup | CA2422039249 | NR0B1 | c.1169-20dup (n.1169-20dup) | dbSNP |
| X | g.30304847T>A | CA2693382740 | NR0B1 | c.1169-24A>T (n.1169-24A>T) | gnomAD v4 |
| X | g.30304849A= | CA2422039250 | NR0B1 | c.1169-26T= (n.1169-26T=) | |
| X | g.30304849A>G | CA640974718 | NR0B1 | c.1169-26T>C (n.1169-26T>C) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304849_30304850delinsAT | CA2422039251 | NR0B1 | c.1169-27_1169-26delinsAT (n.1169-27_1169-26delinsAT) | |
| X | g.30304850del | CA2422039252 | NR0B1 | c.1169-27del (n.1169-27del) | dbSNP |
| X | g.30304852A>G | CA2693382741 | NR0B1 | c.1169-29T>C (n.1169-29T>C) | gnomAD v4 |
| X | g.30304858C>A | CA1132010739 | NR0B1 | c.1169-35G>T (n.1169-35G>T) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304858C= | CA2422039253 | NR0B1 | c.1169-35G= (n.1169-35G=) | |
| X | g.30304860C>A | CA2422039255 | NR0B1 | c.1169-37G>T (n.1169-37G>T) | dbSNP gnomAD v4 |
| X | g.30304860C= | CA2422039254 | NR0B1 | c.1169-37G= (n.1169-37G=) | |
| X | g.30304861_30304862delinsAC | CA2422039256 | NR0B1 | c.1169-39_1169-38delinsGT (n.1169-39_1169-38delinsGT) | |
| X | g.30304863del | CA2422039257 | NR0B1 | c.1169-39del (n.1169-39del) | dbSNP |
| X | g.30304863C= | CA2422039258 | NR0B1 | c.1169-40G= (n.1169-40G=) | |
| X | g.30304863C>T | CA2422039259 | NR0B1 | c.1169-40G>A (n.1169-40G>A) | dbSNP |
| X | g.30304864A>G | CA2693382742 | NR0B1 | c.1169-41T>C (n.1169-41T>C) | gnomAD v4 |
| X | g.30304865C= | CA2422039260 | NR0B1 | c.1169-42G= (n.1169-42G=) | |
| X | g.30304865C>T | CA10376283 | NR0B1 | c.1169-42G>A (n.1169-42G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30304866A= | CA2422039261 | NR0B1 | c.1169-43T= (n.1169-43T=) | |
| X | g.30304866A>C | CA327974270 | NR0B1 | c.1169-43T>G (n.1169-43T>G) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304867G>T | CA2693382743 | NR0B1 | c.1169-44C>A (n.1169-44C>A) | gnomAD v4 |
| X | g.30304868del | CA2579577178 | NR0B1 | c.1169-45del (n.1169-45del) | |
| X | g.30304869G>A | CA10376284 | NR0B1 | c.1169-46C>T (n.1169-46C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304869G= | CA2422039262 | NR0B1 | c.1169-46C= (n.1169-46C=) | |
| X | g.30304869G>T | CA2693382744 | NR0B1 | c.1169-46C>A (n.1169-46C>A) | gnomAD v4 |
| X | g.30304872C>A | CA2693382745 | NR0B1 | c.1169-49G>T (n.1169-49G>T) | gnomAD v4 |
| X | g.30304872C= | CA2422039263 | NR0B1 | c.1169-49G= (n.1169-49G=) | |
| X | g.30304872C>T | CA327974279 | NR0B1 | c.1169-49G>A (n.1169-49G>A) | dbSNP gnomAD v4 |
| X | g.30304873T>C | CA2693382746 | NR0B1 | c.1169-50A>G (n.1169-50A>G) | gnomAD v4 |
| X | g.30304875del | CA2579577179 | NR0B1 | c.1169-50del (n.1169-50del) | |
| X | g.30304874T>C | CA10376285 | NR0B1 | c.1169-51A>G (n.1169-51A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304874T= | CA2422039264 | NR0B1 | c.1169-51A= (n.1169-51A=) | |
| X | g.30304876G>A | CA2422039265 | NR0B1 | c.1169-53C>T (n.1169-53C>T) | dbSNP gnomAD v4 |
| X | g.30304876G= | CA2422039266 | NR0B1 | c.1169-53C= (n.1169-53C=) | |
| X | g.30304876G>T | CA2693382747 | NR0B1 | c.1169-53C>A (n.1169-53C>A) | gnomAD v4 |
| X | g.30304877C>A | CA2693382748 | NR0B1 | c.1169-54G>T (n.1169-54G>T) | gnomAD v4 |
| X | g.30304877C>T | CA2693382749 | NR0B1 | c.1169-54G>A (n.1169-54G>A) | gnomAD v4 |
| X | g.30304880G>C | CA2693382751 | NR0B1 | c.1169-57C>G (n.1169-57C>G) | gnomAD v4 |
| X | g.30304880G>T | CA2579577180 | NR0B1 | c.1169-57C>A (n.1169-57C>A) | gnomAD v4 |
| X | g.30304880_30304881del | CA2693382750 | NR0B1 | c.1169-58_1169-57del (n.1169-58_1169-57del) | gnomAD v4 |
| X | g.30304881C>A | CA2693382752 | NR0B1 | c.1169-58G>T (n.1169-58G>T) | gnomAD v4 |
| X | g.30304882T>A | CA2693382753 | NR0B1 | c.1169-59A>T (n.1169-59A>T) | gnomAD v4 |
| X | g.30304882T>G | CA2422039267 | NR0B1 | c.1169-59A>C (n.1169-59A>C) | dbSNP gnomAD v4 |
| X | g.30304882T= | CA2422039268 | NR0B1 | c.1169-59A= (n.1169-59A=) | |
| X | g.30304886T>A | CA2693382754 | NR0B1 | c.1169-63A>T (n.1169-63A>T) | gnomAD v4 |
| X | g.30304891del | CA2693382755 | NR0B1 | c.1169-64del (n.1169-64del) | gnomAD v4 |
| X | g.30304889A>T | CA2693382756 | NR0B1 | c.1169-66T>A (n.1169-66T>A) | gnomAD v4 |
| X | g.30304891_30304892insGC | CA2693382757 | NR0B1 | c.1169-69_1169-68insGC (n.1169-69_1169-68insGC) | gnomAD v4 |
| X | g.30304892T>C | CA1132010742 | NR0B1 | c.1169-69A>G (n.1169-69A>G) | gnomAD v3 gnomAD v4 |
| X | g.30304894G>A | CA2693382758 | NR0B1 | c.1169-71C>T (n.1169-71C>T) | gnomAD v4 |
| X | g.30304894G>T | CA2579577181 | NR0B1 | c.1169-71C>A (n.1169-71C>A) | |
| X | g.30304895C>A | CA2693382759 | NR0B1 | c.1169-72G>T (n.1169-72G>T) | gnomAD v4 |
| X | g.30304895C>T | CA2693382760 | NR0B1 | c.1169-72G>A (n.1169-72G>A) | gnomAD v4 |
| X | g.30304896C>A | CA2693382761 | NR0B1 | c.1169-73G>T (n.1169-73G>T) | gnomAD v4 |
| X | g.30304903G>A | CA2693382763 | NR0B1 | c.1169-80C>T (n.1169-80C>T) | gnomAD v4 |
| X | g.30304903G>C | CA2579577182 | NR0B1 | c.1169-80C>G (n.1169-80C>G) | |
| X | g.30304903G>T | CA2693382762 | NR0B1 | c.1169-80C>A (n.1169-80C>A) | gnomAD v4 |
| X | g.30304906T>C | CA874615171 | NR0B1 | c.1169-83A>G (n.1169-83A>G) | dbSNP |
| X | g.30304906T= | CA2422039269 | NR0B1 | c.1169-83A= (n.1169-83A=) |