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.30304681T>A | CA412544488 | NR0B1 | c.1311A>T (p.Arg437Ser) | |
| X | g.30304681T>C | CA10376264 | NR0B1 | c.1311A>G (p.Arg437=) | dbSNP ExAC gnomAD v2 |
| X | g.30304681T>G | CA412544489 | NR0B1 | c.1311A>C (p.Arg437Ser) | |
| X | g.30304681T= | CA2422039193 | NR0B1 | c.1311A= (p.Arg437=) | |
| X | g.30304682C>A | CA412544490 | NR0B1 | c.1310G>T (p.Arg437Ile) | |
| X | g.30304682C= | CA2422039194 | NR0B1 | c.1310G= (p.Arg437=) | |
| X | g.30304682C>G | CA10376265 | NR0B1 | c.1310G>C (p.Arg437Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304682C>T | CA412544491 | NR0B1 | c.1310G>A (p.Arg437Lys) | |
| X | g.30304683T>A | CA412544492 | NR0B1 | c.1309A>T (p.Arg437Ter) | |
| X | g.30304683T>C | CA412544493 | NR0B1 | c.1309A>G (p.Arg437Gly) | gnomAD v4 |
| X | g.30304683T>G | CA515716057 | NR0B1 | c.1309A>C (p.Arg437=) | |
| X | g.30304684C>A | CA515716058 | NR0B1 | c.1308G>T (p.Leu436=) | |
| X | g.30304684C>G | CA515716059 | NR0B1 | c.1308G>C (p.Leu436=) | |
| X | g.30304684C>T | CA515716060 | NR0B1 | c.1308G>A (p.Leu436=) | ClinVar dbSNP gnomAD v4 |
| X | g.30304685A>C | CA412544494 | NR0B1 | c.1307T>G (p.Leu436Arg) | |
| X | g.30304685A>G | CA412544495 | NR0B1 | c.1307T>C (p.Leu436Pro) | |
| X | g.30304685A>T | CA412544496 | NR0B1 | c.1307T>A (p.Leu436Gln) | |
| X | g.30304686G>A | CA515716061 | NR0B1 | c.1306C>T (p.Leu436=) | |
| X | g.30304686G>C | CA412544497 | NR0B1 | c.1306C>G (p.Leu436Val) | |
| X | g.30304686G>T | CA412544498 | NR0B1 | c.1306C>A (p.Leu436Met) | |
| X | g.30304687C>A | CA515716062 | NR0B1 | c.1305G>T (p.Leu435=) | gnomAD v3 gnomAD v4 |
| X | g.30304687C>G | CA515716064 | NR0B1 | c.1305G>C (p.Leu435=) | |
| X | g.30304687C>T | CA515716063 | NR0B1 | c.1305G>A (p.Leu435=) | |
| X | g.30304688A>C | CA412544499 | NR0B1 | c.1304T>G (p.Leu435Arg) | |
| X | g.30304688A>G | CA412544500 | NR0B1 | c.1304T>C (p.Leu435Pro) | |
| X | g.30304688A>T | CA412544501 | NR0B1 | c.1304T>A (p.Leu435Gln) | |
| X | g.30304689G>A | CA515716065 | NR0B1 | c.1303C>T (p.Leu435=) | |
| X | g.30304689G>C | CA412544502 | NR0B1 | c.1303C>G (p.Leu435Val) | |
| X | g.30304689G>T | CA412544503 | NR0B1 | c.1303C>A (p.Leu435Met) | |
| X | g.30304690G>A | CA327974124 | NR0B1 | c.1302C>T (p.Phe434=) | dbSNP |
| X | g.30304690G>C | CA412544504 | NR0B1 | c.1302C>G (p.Phe434Leu) | |
| X | g.30304690G= | CA2422039195 | NR0B1 | c.1302C= (p.Phe434=) | |
| X | g.30304690G>T | CA412544505 | NR0B1 | c.1302C>A (p.Phe434Leu) | |
| X | g.30304690_30304691delinsGA | CA2422039196 | NR0B1 | c.1301_1302delinsTC (p.Phe434=) | |
| X | g.30304691A= | CA2422039197 | NR0B1 | c.1301T= (p.Phe434=) | |
| X | g.30304691A>C | CA412544506 | NR0B1 | c.1301T>G (p.Phe434Cys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304691A>G | CA412544507 | NR0B1 | c.1301T>C (p.Phe434Ser) | |
| X | g.30304691A>T | CA412544508 | NR0B1 | c.1301T>A (p.Phe434Tyr) | |
| X | g.30304694del | CA10603722 | NR0B1 | c.1301del (p.Phe434SerfsTer3) | ClinVar dbSNP |
| X | g.30304692A>C | CA412544511 | NR0B1 | c.1300T>G (p.Phe434Val) | |
| X | g.30304692A>G | CA412544509 | NR0B1 | c.1300T>C (p.Phe434Leu) | |
| X | g.30304692A>T | CA412544510 | NR0B1 | c.1300T>A (p.Phe434Ile) | |
| X | g.30304693A>C | CA515716066 | NR0B1 | c.1299T>G (p.Leu433=) | |
| X | g.30304693A>G | CA515716067 | NR0B1 | c.1299T>C (p.Leu433=) | ClinVar |
| X | g.30304693A>T | CA515716068 | NR0B1 | c.1299T>A (p.Leu433=) | |
| X | g.30304694A>C | CA412544512 | NR0B1 | c.1298T>G (p.Leu433Arg) | |
| X | g.30304694A>G | CA412544513 | NR0B1 | c.1298T>C (p.Leu433Pro) | |
| X | g.30304694A>T | CA412544514 | NR0B1 | c.1298T>A (p.Leu433His) | |
| X | g.30304695G>A | CA412544515 | NR0B1 | c.1297C>T (p.Leu433Phe) | |
| X | g.30304695G>C | CA412544516 | NR0B1 | c.1297C>G (p.Leu433Val) | |
| X | g.30304695G>T | CA412544517 | NR0B1 | c.1297C>A (p.Leu433Ile) | |
| X | g.30304696G>A | CA515716072 | NR0B1 | c.1296C>T (p.Thr432=) | dbSNP |
| X | g.30304696G>C | CA515716070 | NR0B1 | c.1296C>G (p.Thr432=) | dbSNP |
| X | g.30304696G= | CA2422039198 | NR0B1 | c.1296C= (p.Thr432=) | |
| X | g.30304696G>T | CA515716069 | NR0B1 | c.1296C>A (p.Thr432=) | |
| X | g.30304697G>A | CA412544518 | NR0B1 | c.1295C>T (p.Thr432Ile) | |
| X | g.30304697G>C | CA412544519 | NR0B1 | c.1295C>G (p.Thr432Ser) | |
| X | g.30304697G>T | CA412544520 | NR0B1 | c.1295C>A (p.Thr432Asn) | |
| X | g.30304699_30304708del | CA2580100535 | NR0B1 | c.1286_1295del (p.Leu429ProfsTer5) | ClinVar |
| X | g.30304698T>A | CA412544521 | NR0B1 | c.1294A>T (p.Thr432Ser) | |
| X | g.30304698T>C | CA412544522 | NR0B1 | c.1294A>G (p.Thr432Ala) | |
| X | g.30304698T>G | CA412544523 | NR0B1 | c.1294A>C (p.Thr432Pro) | |
| X | g.30304699A>C | CA412544524 | NR0B1 | c.1293T>G (p.Ser431Arg) | |
| X | g.30304699A>G | CA515716073 | NR0B1 | c.1293T>C (p.Ser431=) | |
| X | g.30304699A>T | CA412544525 | NR0B1 | c.1293T>A (p.Ser431Arg) | |
| X | g.30304700del | CA2580100536 | NR0B1 | c.1292del (p.Ser431IlefsTer6) | ClinVar |
| X | g.30304700C>A | CA412544526 | NR0B1 | c.1292G>T (p.Ser431Ile) | |
| X | g.30304700C>G | CA412544528 | NR0B1 | c.1292G>C (p.Ser431Thr) | |
| X | g.30304700C>T | CA412544527 | NR0B1 | c.1292G>A (p.Ser431Asn) | |
| X | g.30304701T>A | CA412544529 | NR0B1 | c.1291A>T (p.Ser431Cys) | |
| X | g.30304701T>C | CA412544530 | NR0B1 | c.1291A>G (p.Ser431Gly) | |
| X | g.30304701T>G | CA412544531 | NR0B1 | c.1291A>C (p.Ser431Arg) | |
| X | g.30304703_30304705del | CA2695232146 | NR0B1 | c.1289_1291del (p.Asn430del) | |
| X | g.30304702A>C | CA412544532 | NR0B1 | c.1290T>G (p.Asn430Lys) | |
| X | g.30304702A>G | CA515716074 | NR0B1 | c.1290T>C (p.Asn430=) | |
| X | g.30304702A>T | CA412544533 | NR0B1 | c.1290T>A (p.Asn430Lys) | |
| X | g.30304703T>A | CA412544534 | NR0B1 | c.1289A>T (p.Asn430Ile) | |
| X | g.30304703T>C | CA412544535 | NR0B1 | c.1289A>G (p.Asn430Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304703T>G | CA412544536 | NR0B1 | c.1289A>C (p.Asn430Thr) | |
| X | g.30304703T= | CA2422039199 | NR0B1 | c.1289A= (p.Asn430=) | |
| X | g.30304704T>A | CA412544537 | NR0B1 | c.1288A>T (p.Asn430Tyr) | |
| X | g.30304704T>C | CA412544538 | NR0B1 | c.1288A>G (p.Asn430Asp) | |
| X | g.30304704T>G | CA412544539 | NR0B1 | c.1288A>C (p.Asn430His) | |
| X | g.30304705A>C | CA515716075 | NR0B1 | c.1287T>G (p.Leu429=) | |
| X | g.30304705A>G | CA515716076 | NR0B1 | c.1287T>C (p.Leu429=) | |
| X | g.30304705A>T | CA515716077 | NR0B1 | c.1287T>A (p.Leu429=) | |
| X | g.30304706A>C | CA412544542 | NR0B1 | c.1286T>G (p.Leu429Arg) | |
| X | g.30304706A>G | CA412544540 | NR0B1 | c.1286T>C (p.Leu429Pro) | |
| X | g.30304706A>T | CA412544541 | NR0B1 | c.1286T>A (p.Leu429His) | |
| X | g.30304707G>A | CA412544543 | NR0B1 | c.1285C>T (p.Leu429Phe) | |
| X | g.30304707G>C | CA412544544 | NR0B1 | c.1285C>G (p.Leu429Val) | |
| X | g.30304707G>T | CA412544545 | NR0B1 | c.1285C>A (p.Leu429Ile) | |
| X | g.30304708T>A | CA10376266 | NR0B1 | c.1284A>T (p.Glu428Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304708T>C | CA515716079 | NR0B1 | c.1284A>G (p.Glu428=) | |
| X | g.30304708T>G | CA412544546 | NR0B1 | c.1284A>C (p.Glu428Asp) | |
| X | g.30304708T= | CA2422039200 | NR0B1 | c.1284A= (p.Glu428=) | |
| X | g.30304709T>A | CA412544547 | NR0B1 | c.1283A>T (p.Glu428Val) | |
| X | g.30304709T>C | CA412544548 | NR0B1 | c.1283A>G (p.Glu428Gly) | |
| X | g.30304709T>G | CA412544549 | NR0B1 | c.1283A>C (p.Glu428Ala) | |
| X | g.30304710C>A | CA412544550 | NR0B1 | c.1282G>T (p.Glu428Ter) | |
| X | g.30304710C= | CA2422039201 | NR0B1 | c.1282G= (p.Glu428=) | |
| X | g.30304710C>G | CA412544551 | NR0B1 | c.1282G>C (p.Glu428Gln) | |
| X | g.30304710C>T | CA10376267 | NR0B1 | c.1282G>A (p.Glu428Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.30304711del | CA2538950233 | NR0B1 | c.1281del (p.Ile427MetfsTer10) | |
| X | g.30304711G>A | CA10376268 | NR0B1 | c.1281C>T (p.Ile427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304711G>C | CA412544552 | NR0B1 | c.1281C>G (p.Ile427Met) | |
| X | g.30304711G= | CA2422039202 | NR0B1 | c.1281C= (p.Ile427=) | |
| X | g.30304711G>T | CA515716080 | NR0B1 | c.1281C>A (p.Ile427=) | |
| X | g.30304713_30304715dup | CA2695232147 | NR0B1 | c.1279_1281dup (p.Ile427_Glu428insIle) | |
| X | g.30304712A>C | CA412544553 | NR0B1 | c.1280T>G (p.Ile427Ser) | |
| X | g.30304712A>G | CA412544554 | NR0B1 | c.1280T>C (p.Ile427Thr) | |
| X | g.30304712A>T | CA412544555 | NR0B1 | c.1280T>A (p.Ile427Asn) | |
| X | g.30304713del | CA2547118183 | NR0B1 | c.1279del (p.Ile427SerfsTer10) | |
| X | g.30304713T>A | CA412544556 | NR0B1 | c.1279A>T (p.Ile427Phe) | |
| X | g.30304713T>C | CA10376269 | NR0B1 | c.1279A>G (p.Ile427Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30304713T>G | CA412544557 | NR0B1 | c.1279A>C (p.Ile427Leu) | |
| X | g.30304713T= | CA2422039203 | NR0B1 | c.1279A= (p.Ile427=) | |
| X | g.30304714G>A | CA515716081 | NR0B1 | c.1278C>T (p.Phe426=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304714G>C | CA412544558 | NR0B1 | c.1278C>G (p.Phe426Leu) | |
| X | g.30304714G= | CA2422039204 | NR0B1 | c.1278C= (p.Phe426=) | |
| X | g.30304714G>T | CA412544559 | NR0B1 | c.1278C>A (p.Phe426Leu) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304714_30304715insCA | CA2544177301 | NR0B1 | c.1277_1278insTG (p.Ile427AlafsTer11) | |
| X | g.30304715A>C | CA412544560 | NR0B1 | c.1277T>G (p.Phe426Cys) | |
| X | g.30304715A>G | CA412544561 | NR0B1 | c.1277T>C (p.Phe426Ser) | |
| X | g.30304715A>T | CA412544562 | NR0B1 | c.1277T>A (p.Phe426Tyr) | |
| X | g.30304716A>C | CA412544563 | NR0B1 | c.1276T>G (p.Phe426Val) | |
| X | g.30304716A>G | CA412544564 | NR0B1 | c.1276T>C (p.Phe426Leu) | COSMIC |
| X | g.30304716A>T | CA412544565 | NR0B1 | c.1276T>A (p.Phe426Ile) | |
| X | g.30304717T>A | CA412544566 | NR0B1 | c.1275A>T (p.Arg425Ser) | |
| X | g.30304717T>C | CA515716082 | NR0B1 | c.1275A>G (p.Arg425=) | |
| X | g.30304717T>G | CA412544567 | NR0B1 | c.1275A>C (p.Arg425Ser) | |
| X | g.30304718C>A | CA263240 | NR0B1 | c.1274G>T (p.Arg425Ile) | ClinVar dbSNP |
| X | g.30304718C= | CA2422039205 | NR0B1 | c.1274G= (p.Arg425=) | |
| X | g.30304718C>G | CA412544568 | NR0B1 | c.1274G>C (p.Arg425Thr) | |
| X | g.30304718C>T | CA412544569 | NR0B1 | c.1274G>A (p.Arg425Lys) | |
| X | g.30304719T>A | CA412545184 | NR0B1 | c.1273A>T (p.Arg425Ter) | COSMIC |
| X | g.30304719T>C | CA412545186 | NR0B1 | c.1273A>G (p.Arg425Gly) | ClinVar |
| X | g.30304719T>G | CA515716487 | NR0B1 | c.1273A>C (p.Arg425=) | |
| X | g.30304720G>A | CA515716489 | NR0B1 | c.1272C>T (p.Asp424=) | |
| X | g.30304720G>C | CA412545187 | NR0B1 | c.1272C>G (p.Asp424Glu) | |
| X | g.30304720G>T | CA412545188 | NR0B1 | c.1272C>A (p.Asp424Glu) | gnomAD v4 |
| X | g.30304721T>A | CA412545189 | NR0B1 | c.1271A>T (p.Asp424Val) | |
| X | g.30304721T>C | CA412545191 | NR0B1 | c.1271A>G (p.Asp424Gly) | |
| X | g.30304721T>G | CA412545192 | NR0B1 | c.1271A>C (p.Asp424Ala) | |
| X | g.30304722C>A | CA412545196 | NR0B1 | c.1270G>T (p.Asp424Tyr) | |
| X | g.30304722C>G | CA412545197 | NR0B1 | c.1270G>C (p.Asp424His) | |
| X | g.30304722C>T | CA412545198 | NR0B1 | c.1270G>A (p.Asp424Asn) | gnomAD v4 COSMIC |
| X | g.30304723A= | CA2422039206 | NR0B1 | c.1269T= (p.His423=) | |
| X | g.30304723A>C | CA412545200 | NR0B1 | c.1269T>G (p.His423Gln) | gnomAD v4 |
| X | g.30304723A>G | CA515716496 | NR0B1 | c.1269T>C (p.His423=) | dbSNP |
| X | g.30304723A>T | CA412545202 | NR0B1 | c.1269T>A (p.His423Gln) | dbSNP |
| X | g.30304724del | CA2695232148 | NR0B1 | c.1268del (p.His423LeufsTer14) | |
| X | g.30304724T>A | CA412545204 | NR0B1 | c.1268A>T (p.His423Leu) | |
| X | g.30304724T>C | CA412545209 | NR0B1 | c.1268A>G (p.His423Arg) | |
| X | g.30304724T>G | CA412545206 | NR0B1 | c.1268A>C (p.His423Pro) | |
| X | g.30304724_30304725delinsTG | CA2422039207 | NR0B1 | c.1267_1268delinsCA (p.His423=) | |
| X | g.30304725G>A | CA412545211 | NR0B1 | c.1267C>T (p.His423Tyr) | |
| X | g.30304725G>C | CA412545215 | NR0B1 | c.1267C>G (p.His423Asp) | |
| X | g.30304725G>T | CA412545214 | NR0B1 | c.1267C>A (p.His423Asn) | |
| X | g.30304727_30304728dup | CA2695232149 | NR0B1 | c.1266_1267dup (p.His423ProfsTer15) | |
| X | g.30304728del | CA891843968 | NR0B1 | c.1267del (p.His423MetfsTer14) | ClinVar dbSNP |
| X | g.30304727_30304728del | CA2557168659 | NR0B1 | c.1266_1267del (p.His423Ter) | |
| X | g.30304726G>A | CA515716510 | NR0B1 | c.1266C>T (p.Pro422=) | COSMIC |
| X | g.30304726G>C | CA515716512 | NR0B1 | c.1266C>G (p.Pro422=) | |
| X | g.30304726G>T | CA515716514 | NR0B1 | c.1266C>A (p.Pro422=) | |
| X | g.30304727G>A | CA412545218 | NR0B1 | c.1265C>T (p.Pro422Leu) | |
| X | g.30304727G>C | CA412545220 | NR0B1 | c.1265C>G (p.Pro422Arg) | |
| X | g.30304727G>T | CA412545222 | NR0B1 | c.1265C>A (p.Pro422His) | |
| X | g.30304728G>A | CA412545224 | NR0B1 | c.1264C>T (p.Pro422Ser) | |
| X | g.30304728G>C | CA412545226 | NR0B1 | c.1264C>G (p.Pro422Ala) | |
| X | g.30304728G>T | CA412545228 | NR0B1 | c.1264C>A (p.Pro422Thr) | |
| X | g.30304728_30304729delinsGC | CA2422039208 | NR0B1 | c.1263_1264delinsGC (p.Gly421=) | |
| X | g.30304728_30304729insTACC | CA2503449936 | NR0B1 | c.1263_1264insGGTA (p.Pro422GlyfsTer4) | |
| X | g.30304729C>A | CA515716537 | NR0B1 | c.1263G>T (p.Gly421=) | |
| X | g.30304729C= | CA2422039209 | NR0B1 | c.1263G= (p.Gly421=) | |
| X | g.30304729C>G | CA515716539 | NR0B1 | c.1263G>C (p.Gly421=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304729C>T | CA515716541 | NR0B1 | c.1263G>A (p.Gly421=) | |
| X | g.30304731del | CA640974698 | NR0B1 | c.1263del (p.His423MetfsTer14) | dbSNP gnomAD v2 |
| X | g.30304730C>A | CA412545231 | NR0B1 | c.1262G>T (p.Gly421Val) | |
| X | g.30304730C= | CA2422039210 | NR0B1 | c.1262G= (p.Gly421=) | |
| X | g.30304730C>G | CA412545232 | NR0B1 | c.1262G>C (p.Gly421Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304730C>T | CA412545234 | NR0B1 | c.1262G>A (p.Gly421Glu) | |
| X | g.30304731C>A | CA412545237 | NR0B1 | c.1261G>T (p.Gly421Trp) | |
| X | g.30304731C>G | CA412545238 | NR0B1 | c.1261G>C (p.Gly421Arg) | |
| X | g.30304731C>T | CA412545241 | NR0B1 | c.1261G>A (p.Gly421Arg) | COSMIC |
| X | g.30304732T>A | CA412545244 | NR0B1 | c.1260A>T (p.Gln420His) | |
| X | g.30304732T>C | CA515716558 | NR0B1 | c.1260A>G (p.Gln420=) | |
| X | g.30304732T>G | CA412545243 | NR0B1 | c.1260A>C (p.Gln420His) | |
| X | g.30304733T>A | CA412545247 | NR0B1 | c.1259A>T (p.Gln420Leu) | |
| X | g.30304733T>C | CA412545248 | NR0B1 | c.1259A>G (p.Gln420Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304733T>G | CA412545251 | NR0B1 | c.1259A>C (p.Gln420Pro) | |
| X | g.30304733T= | CA2422039211 | NR0B1 | c.1259A= (p.Gln420=) | |
| X | g.30304734G>A | CA412545253 | NR0B1 | c.1258C>T (p.Gln420Ter) | |
| X | g.30304734G>C | CA412545256 | NR0B1 | c.1258C>G (p.Gln420Glu) | |
| X | g.30304734G>T | CA412545258 | NR0B1 | c.1258C>A (p.Gln420Lys) | |
| X | g.30304735G>A | CA515716575 | NR0B1 | c.1257C>T (p.His419=) | ClinVar dbSNP |
| X | g.30304735G>C | CA412545261 | NR0B1 | c.1257C>G (p.His419Gln) | |
| X | g.30304735G= | CA2422039212 | NR0B1 | c.1257C= (p.His419=) | |
| X | g.30304735G>T | CA412545262 | NR0B1 | c.1257C>A (p.His419Gln) | |
| X | g.30304736del | CA2695232150 | NR0B1 | c.1256del (p.His419ProfsTer18) | |
| X | g.30304736T>A | CA412545266 | NR0B1 | c.1256A>T (p.His419Leu) | |
| X | g.30304736T>C | CA412545268 | NR0B1 | c.1256A>G (p.His419Arg) | |
| X | g.30304736T>G | CA412545270 | NR0B1 | c.1256A>C (p.His419Pro) | |
| X | g.30304737G>A | CA412545275 | NR0B1 | c.1255C>T (p.His419Tyr) | |
| X | g.30304737G>C | CA412545273 | NR0B1 | c.1255C>G (p.His419Asp) | |
| X | g.30304737G>T | CA412545271 | NR0B1 | c.1255C>A (p.His419Asn) | |
| X | g.30304738C>A | CA515716590 | NR0B1 | c.1254G>T (p.Thr418=) | |
| X | g.30304738C= | CA2422039213 | NR0B1 | c.1254G= (p.Thr418=) | |
| X | g.30304738C>G | CA515716595 | NR0B1 | c.1254G>C (p.Thr418=) | |
| X | g.30304738C>T | CA10376270 | NR0B1 | c.1254G>A (p.Thr418=) | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
| X | g.30304739G>A | CA10376271 | NR0B1 | c.1253C>T (p.Thr418Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.30304739G>C | CA412545282 | NR0B1 | c.1253C>G (p.Thr418Arg) | |
| X | g.30304739G= | CA2422039214 | NR0B1 | c.1253C= (p.Thr418=) | |
| X | g.30304739G>T | CA412545284 | NR0B1 | c.1253C>A (p.Thr418Lys) | |
| X | g.30304740T>A | CA412545286 | NR0B1 | c.1252A>T (p.Thr418Ser) | |
| X | g.30304740T>C | CA412545288 | NR0B1 | c.1252A>G (p.Thr418Ala) | |
| X | g.30304740T>G | CA412545290 | NR0B1 | c.1252A>C (p.Thr418Pro) | |
| X | g.30304741C>A | CA412545292 | NR0B1 | c.1251G>T (p.Met417Ile) | |
| X | g.30304741C>G | CA412545294 | NR0B1 | c.1251G>C (p.Met417Ile) | |
| X | g.30304741C>T | CA412545297 | NR0B1 | c.1251G>A (p.Met417Ile) | |
| X | g.30304742_30304745dup | CA2695232151 | NR0B1 | c.1248_1251dup (p.Thr418AspfsTer8) | |
| X | g.30304742A>C | CA412545299 | NR0B1 | c.1250T>G (p.Met417Arg) | |
| X | g.30304742A>G | CA412545301 | NR0B1 | c.1250T>C (p.Met417Thr) | gnomAD v4 |
| X | g.30304742A>T | CA412545303 | NR0B1 | c.1250T>A (p.Met417Lys) | |
| X | g.30304743T>A | CA412545308 | NR0B1 | c.1249A>T (p.Met417Leu) | |
| X | g.30304743T>C | CA412545305 | NR0B1 | c.1249A>G (p.Met417Val) | gnomAD v4 |
| X | g.30304743T>G | CA412545307 | NR0B1 | c.1249A>C (p.Met417Leu) | |
| X | g.30304744C>A | CA412545309 | NR0B1 | c.1248G>T (p.Arg416Ser) | |
| X | g.30304744C>G | CA412545310 | NR0B1 | c.1248G>C (p.Arg416Ser) | |
| X | g.30304744C>T | CA515716634 | NR0B1 | c.1248G>A (p.Arg416=) | ClinVar |
| X | g.30304745C>A | CA412545311 | NR0B1 | c.1247G>T (p.Arg416Met) | |
| X | g.30304745C>G | CA412545312 | NR0B1 | c.1247G>C (p.Arg416Thr) | |
| X | g.30304745C>T | CA412545313 | NR0B1 | c.1247G>A (p.Arg416Lys) | dbSNP |
| X | g.30304746T>A | CA412545314 | NR0B1 | c.1246A>T (p.Arg416Trp) | |
| X | g.30304746T>C | CA412545315 | NR0B1 | c.1246A>G (p.Arg416Gly) | |
| X | g.30304746T>G | CA515716645 | NR0B1 | c.1246A>C (p.Arg416=) | |
| X | g.30304747G>A | CA515716647 | NR0B1 | c.1245C>T (p.Thr415=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304747G>C | CA10376272 | NR0B1 | c.1245C>G (p.Thr415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304747G= | CA2422039215 | NR0B1 | c.1245C= (p.Thr415=) | |
| X | g.30304747G>T | CA515716653 | NR0B1 | c.1245C>A (p.Thr415=) | ClinVar |
| X | g.30304748G>A | CA412545316 | NR0B1 | c.1244C>T (p.Thr415Ile) | |
| X | g.30304748G>C | CA412545317 | NR0B1 | c.1244C>G (p.Thr415Ser) | |
| X | g.30304748G>T | CA412545390 | NR0B1 | c.1244C>A (p.Thr415Asn) | |
| X | g.30304749T>A | CA412545403 | NR0B1 | c.1243A>T (p.Thr415Ser) | |
| X | g.30304749T>C | CA412545400 | NR0B1 | c.1243A>G (p.Thr415Ala) | gnomAD v4 |
| X | g.30304749T>G | CA412545398 | NR0B1 | c.1243A>C (p.Thr415Pro) | |
| X | g.30304750G>A | CA515716665 | NR0B1 | c.1242C>T (p.His414=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304750G>C | CA412545407 | NR0B1 | c.1242C>G (p.His414Gln) | |
| X | g.30304750G= | CA2422039216 | NR0B1 | c.1242C= (p.His414=) | |
| X | g.30304750G>T | CA412545409 | NR0B1 | c.1242C>A (p.His414Gln) | |
| X | g.30304751T>A | CA412545412 | NR0B1 | c.1241A>T (p.His414Leu) | |
| X | g.30304751T>C | CA412545415 | NR0B1 | c.1241A>G (p.His414Arg) | |
| X | g.30304751T>G | CA412545416 | NR0B1 | c.1241A>C (p.His414Pro) | |
| X | g.30304752G>A | CA412545419 | NR0B1 | c.1240C>T (p.His414Tyr) | |
| X | g.30304752G>C | CA412545421 | NR0B1 | c.1240C>G (p.His414Asp) | |
| X | g.30304752G>T | CA412545423 | NR0B1 | c.1240C>A (p.His414Asn) | |
| X | g.30304753T>A | CA412545426 | NR0B1 | c.1239A>T (p.Glu413Asp) | |
| X | g.30304753T>C | CA515716683 | NR0B1 | c.1239A>G (p.Glu413=) | |
| X | g.30304753T>G | CA412545428 | NR0B1 | c.1239A>C (p.Glu413Asp) | |
| X | g.30304754T>A | CA412545431 | NR0B1 | c.1238A>T (p.Glu413Val) | |
| X | g.30304754T>C | CA412545432 | NR0B1 | c.1238A>G (p.Glu413Gly) | |
| X | g.30304754T>G | CA412545433 | NR0B1 | c.1238A>C (p.Glu413Ala) | |
| X | g.30304755C>A | CA412545435 | NR0B1 | c.1237G>T (p.Glu413Ter) | |
| X | g.30304755C>G | CA412545437 | NR0B1 | c.1237G>C (p.Glu413Gln) | |
| X | g.30304755C>T | CA412545438 | NR0B1 | c.1237G>A (p.Glu413Lys) | |
| X | g.30304756A= | CA2422039217 | NR0B1 | c.1236T= (p.Ser412=) | |
| X | g.30304756A>C | CA412545440 | NR0B1 | c.1236T>G (p.Ser412Arg) | |
| X | g.30304756A>G | CA515716698 | NR0B1 | c.1236T>C (p.Ser412=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304756A>T | CA10376273 | NR0B1 | c.1236T>A (p.Ser412Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30304756_30304758delinsACT | CA2422039218 | NR0B1 | c.1234_1236delinsAGT (p.Ser412=) | |
| X | g.30304757C>A | CA412545445 | NR0B1 | c.1235G>T (p.Ser412Ile) | |
| X | g.30304757C= | CA2422039219 | NR0B1 | c.1235G= (p.Ser412=) | |
| X | g.30304757C>G | CA412545447 | NR0B1 | c.1235G>C (p.Ser412Thr) | |
| X | g.30304757C>T | CA10376274 | NR0B1 | c.1235G>A (p.Ser412Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304757_30304758del | CA658653868 | NR0B1 | c.1234_1235del (p.Ser412Ter) | ClinVar dbSNP |
| X | g.30304757_30304761delinsCTGAG | CA2422039220 | NR0B1 | c.1231_1235delinsCTCAG (p.Leu411=) | |
| X | g.30304758del | CA2695232152 | NR0B1 | c.1234del (p.Ser412ValfsTer6) | |
| X | g.30304758T>A | CA412545450 | NR0B1 | c.1234A>T (p.Ser412Cys) | |
| X | g.30304758T>C | CA10376275 | NR0B1 | c.1234A>G (p.Ser412Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304758T>G | CA412545453 | NR0B1 | c.1234A>C (p.Ser412Arg) | gnomAD v4 |
| X | g.30304758T= | CA2422039221 | NR0B1 | c.1234A= (p.Ser412=) | |
| X | g.30304759_30304762del | CA891843969 | NR0B1 | c.1231_1234del (p.Leu411ValfsTer6) | ClinVar dbSNP |
| X | g.30304759G>A | CA515716714 | NR0B1 | c.1233C>T (p.Leu411=) | gnomAD v4 |
| X | g.30304759G>C | CA515716716 | NR0B1 | c.1233C>G (p.Leu411=) | |
| X | g.30304759G>T | CA515716721 | NR0B1 | c.1233C>A (p.Leu411=) | |
| X | g.30304760A>C | CA412545454 | NR0B1 | c.1232T>G (p.Leu411Arg) | |
| X | g.30304760A>G | CA412545456 | NR0B1 | c.1232T>C (p.Leu411Pro) | |
| X | g.30304760A>T | CA412545458 | NR0B1 | c.1232T>A (p.Leu411His) | |
| X | g.30304761G>A | CA412545461 | NR0B1 | c.1231C>T (p.Leu411Phe) | |
| X | g.30304761G>C | CA412545463 | NR0B1 | c.1231C>G (p.Leu411Val) | |
| X | g.30304761G>T | CA412545465 | NR0B1 | c.1231C>A (p.Leu411Ile) | |
| X | g.30304762T>A | CA515716736 | NR0B1 | c.1230A>T (p.Ile410=) | |
| X | g.30304762T>C | CA412545467 | NR0B1 | c.1230A>G (p.Ile410Met) | |
| X | g.30304762T>G | CA515716746 | NR0B1 | c.1230A>C (p.Ile410=) | |
| X | g.30304763A>C | CA412545473 | NR0B1 | c.1229T>G (p.Ile410Arg) | |
| X | g.30304763A>G | CA412545469 | NR0B1 | c.1229T>C (p.Ile410Thr) | |
| X | g.30304763A>T | CA412545471 | NR0B1 | c.1229T>A (p.Ile410Lys) | |
| X | g.30304764T>A | CA412545475 | NR0B1 | c.1228A>T (p.Ile410Leu) | |
| X | g.30304764T>C | CA412545477 | NR0B1 | c.1228A>G (p.Ile410Val) | |
| X | g.30304764T>G | CA412545482 | NR0B1 | c.1228A>C (p.Ile410Leu) | |
| X | g.30304765T>A | CA412545484 | NR0B1 | c.1227A>T (p.Gln409His) | |
| X | g.30304765T>C | CA515716756 | NR0B1 | c.1227A>G (p.Gln409=) | |
| X | g.30304765T>G | CA412545486 | NR0B1 | c.1227A>C (p.Gln409His) | |
| X | g.30304766T>A | CA412545488 | NR0B1 | c.1226A>T (p.Gln409Leu) | |
| X | g.30304766T>C | CA412545490 | NR0B1 | c.1226A>G (p.Gln409Arg) | |
| X | g.30304766T>G | CA412545492 | NR0B1 | c.1226A>C (p.Gln409Pro) | |
| X | g.30304767G>A | CA412545495 | NR0B1 | c.1225C>T (p.Gln409Ter) | |
| X | g.30304767G>C | CA412545497 | NR0B1 | c.1225C>G (p.Gln409Glu) | |
| X | g.30304767G>T | CA412545499 | NR0B1 | c.1225C>A (p.Gln409Lys) | |
| X | g.30304768C>A | CA412545504 | NR0B1 | c.1224G>T (p.Gln408His) | |
| X | g.30304768C>G | CA412545501 | NR0B1 | c.1224G>C (p.Gln408His) | |
| X | g.30304768C>T | CA515716766 | NR0B1 | c.1224G>A (p.Gln408=) | |
| X | g.30304769T>A | CA412545506 | NR0B1 | c.1223A>T (p.Gln408Leu) | |
| X | g.30304769T>C | CA412545509 | NR0B1 | c.1223A>G (p.Gln408Arg) | |
| X | g.30304769T>G | CA412545511 | NR0B1 | c.1223A>C (p.Gln408Pro) | |
| X | g.30304770G>A | CA412545514 | NR0B1 | c.1222C>T (p.Gln408Ter) | |
| X | g.30304770G>C | CA412545516 | NR0B1 | c.1222C>G (p.Gln408Glu) | |
| X | g.30304770G>T | CA412545518 | NR0B1 | c.1222C>A (p.Gln408Lys) | |
| X | g.30304771A= | CA2422039222 | NR0B1 | c.1221T= (p.Thr407=) | |
| X | g.30304771A>C | CA515716777 | NR0B1 | c.1221T>G (p.Thr407=) | |
| X | g.30304771A>G | CA515716779 | NR0B1 | c.1221T>C (p.Thr407=) | dbSNP gnomAD v2 |
| X | g.30304771A>T | CA515716781 | NR0B1 | c.1221T>A (p.Thr407=) | |
| X | g.30304772G>A | CA412545520 | NR0B1 | c.1220C>T (p.Thr407Ile) | |
| X | g.30304772G>C | CA412545522 | NR0B1 | c.1220C>G (p.Thr407Ser) | |
| X | g.30304772G>T | CA412545524 | NR0B1 | c.1220C>A (p.Thr407Asn) | |
| X | g.30304773T>A | CA412545526 | NR0B1 | c.1219A>T (p.Thr407Ser) | |
| X | g.30304773T>C | CA10376276 | NR0B1 | c.1219A>G (p.Thr407Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304773T>G | CA412545529 | NR0B1 | c.1219A>C (p.Thr407Pro) | |
| X | g.30304773T= | CA2422039223 | NR0B1 | c.1219A= (p.Thr407=) | |
| X | g.30304774T>A | CA515716793 | NR0B1 | c.1218A>T (p.Gly406=) | |
| X | g.30304774T>C | CA515716803 | NR0B1 | c.1218A>G (p.Gly406=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304774T>G | CA515716798 | NR0B1 | c.1218A>C (p.Gly406=) | |
| X | g.30304774T= | CA2422039224 | NR0B1 | c.1218A= (p.Gly406=) | |
| X | g.30304775C>A | CA412545535 | NR0B1 | c.1217G>T (p.Gly406Val) | |
| X | g.30304775C>G | CA412545533 | NR0B1 | c.1217G>C (p.Gly406Ala) | |
| X | g.30304775C>T | CA412545531 | NR0B1 | c.1217G>A (p.Gly406Glu) | |
| X | g.30304778dup | CA2695232153 | NR0B1 | c.1217dup (p.Thr407AsnfsTer7) | |
| X | g.30304776C>A | CA412545536 | NR0B1 | c.1216G>T (p.Gly406Ter) | |
| X | g.30304776C>G | CA412545540 | NR0B1 | c.1216G>C (p.Gly406Arg) | |
| X | g.30304776C>T | CA412545538 | NR0B1 | c.1216G>A (p.Gly406Arg) | |
| X | g.30304777C>A | CA412545544 | NR0B1 | c.1215G>T (p.Trp405Cys) | |
| X | g.30304777C>G | CA412545547 | NR0B1 | c.1215G>C (p.Trp405Cys) | |
| X | g.30304777C>T | CA412545545 | NR0B1 | c.1215G>A (p.Trp405Ter) | |
| X | g.30304778C>A | CA412545549 | NR0B1 | c.1214G>T (p.Trp405Leu) | |
| X | g.30304778C>G | CA412545550 | NR0B1 | c.1214G>C (p.Trp405Ser) | |
| X | g.30304778C>T | CA412545552 | NR0B1 | c.1214G>A (p.Trp405Ter) | |
| X | g.30304779A= | CA2422039225 | NR0B1 | c.1213T= (p.Trp405=) | |
| X | g.30304779A>C | CA412545555 | NR0B1 | c.1213T>G (p.Trp405Gly) | |
| X | g.30304779A>G | CA412545557 | NR0B1 | c.1213T>C (p.Trp405Arg) | |
| X | g.30304779A>T | CA412545558 | NR0B1 | c.1213T>A (p.Trp405Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304780C>A | CA412545561 | NR0B1 | c.1212G>T (p.Gln404His) | |
| X | g.30304780C>G | CA412545563 | NR0B1 | c.1212G>C (p.Gln404His) | |
| X | g.30304780C>T | CA515716831 | NR0B1 | c.1212G>A (p.Gln404=) | |
| X | g.30304781T>A | CA412545566 | NR0B1 | c.1211A>T (p.Gln404Leu) | COSMIC |
| X | g.30304781T>C | CA412545568 | NR0B1 | c.1211A>G (p.Gln404Arg) | |
| X | g.30304781T>G | CA412545569 | NR0B1 | c.1211A>C (p.Gln404Pro) |