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.30304591A>C | CA412544280 | NR0B1 | c.1401T>G (p.Cys467Trp) | |
| X | g.30304591A>G | CA515715962 | NR0B1 | c.1401T>C (p.Cys467=) | |
| X | g.30304591A>T | CA412544281 | NR0B1 | c.1401T>A (p.Cys467Ter) | |
| X | g.30304592C>A | CA412544283 | NR0B1 | c.1400G>T (p.Cys467Phe) | |
| X | g.30304592C>G | CA412544284 | NR0B1 | c.1400G>C (p.Cys467Ser) | |
| X | g.30304592C>T | CA412544282 | NR0B1 | c.1400G>A (p.Cys467Tyr) | |
| X | g.30304593A>C | CA412544285 | NR0B1 | c.1399T>G (p.Cys467Gly) | |
| X | g.30304593A>G | CA412544286 | NR0B1 | c.1399T>C (p.Cys467Arg) | |
| X | g.30304593A>T | CA412544287 | NR0B1 | c.1399T>A (p.Cys467Ser) | |
| X | g.30304594G>A | CA515715967 | NR0B1 | c.1398C>T (p.Leu466=) | gnomAD v4 |
| X | g.30304594G>C | CA515715968 | NR0B1 | c.1398C>G (p.Leu466=) | ClinVar gnomAD v3 gnomAD v4 |
| X | g.30304594G>T | CA515715969 | NR0B1 | c.1398C>A (p.Leu466=) | |
| X | g.30304595A>C | CA412544288 | NR0B1 | c.1397T>G (p.Leu466Arg) | |
| X | g.30304595A>G | CA412544289 | NR0B1 | c.1397T>C (p.Leu466Pro) | |
| X | g.30304595A>T | CA412544290 | NR0B1 | c.1397T>A (p.Leu466His) | |
| X | g.30304596G>A | CA412544291 | NR0B1 | c.1396C>T (p.Leu466Phe) | |
| X | g.30304596G>C | CA412544292 | NR0B1 | c.1396C>G (p.Leu466Val) | gnomAD v4 |
| X | g.30304596G>T | CA412544293 | NR0B1 | c.1396C>A (p.Leu466Ile) | |
| X | g.30304597C>A | CA412544294 | NR0B1 | c.1395G>T (p.Met465Ile) | |
| X | g.30304597C>G | CA412544295 | NR0B1 | c.1395G>C (p.Met465Ile) | |
| X | g.30304597C>T | CA412544296 | NR0B1 | c.1395G>A (p.Met465Ile) | |
| X | g.30304598A>C | CA412544299 | NR0B1 | c.1394T>G (p.Met465Arg) | |
| X | g.30304598A>G | CA412544298 | NR0B1 | c.1394T>C (p.Met465Thr) | |
| X | g.30304598A>T | CA412544297 | NR0B1 | c.1394T>A (p.Met465Lys) | |
| X | g.30304599T>A | CA412544300 | NR0B1 | c.1393A>T (p.Met465Leu) | |
| X | g.30304599T>C | CA412544301 | NR0B1 | c.1393A>G (p.Met465Val) | dbSNP |
| X | g.30304599T>G | CA412544302 | NR0B1 | c.1393A>C (p.Met465Leu) | |
| X | g.30304599T= | CA2422039167 | NR0B1 | c.1393A= (p.Met465=) | |
| X | g.30304600T>A | CA412544303 | NR0B1 | c.1392A>T (p.Glu464Asp) | |
| X | g.30304600T>C | CA515715981 | NR0B1 | c.1392A>G (p.Glu464=) | |
| X | g.30304600T>G | CA412544304 | NR0B1 | c.1392A>C (p.Glu464Asp) | |
| X | g.30304601T>A | CA412544305 | NR0B1 | c.1391A>T (p.Glu464Val) | gnomAD v4 |
| X | g.30304601T>C | CA412544306 | NR0B1 | c.1391A>G (p.Glu464Gly) | gnomAD v4 |
| X | g.30304601T>G | CA412544307 | NR0B1 | c.1391A>C (p.Glu464Ala) | |
| X | g.30304602C>A | CA412544308 | NR0B1 | c.1390G>T (p.Glu464Ter) | |
| X | g.30304602C= | CA2422039168 | NR0B1 | c.1390G= (p.Glu464=) | |
| X | g.30304602C>G | CA412544309 | NR0B1 | c.1390G>C (p.Glu464Gln) | |
| X | g.30304602C>T | CA412544310 | NR0B1 | c.1390G>A (p.Glu464Lys) | dbSNP |
| X | g.30304603C>A | CA515715988 | NR0B1 | c.1389G>T (p.Leu463=) | |
| X | g.30304603C>G | CA515715987 | NR0B1 | c.1389G>C (p.Leu463=) | |
| X | g.30304603C>T | CA515715986 | NR0B1 | c.1389G>A (p.Leu463=) | |
| X | g.30304604A>C | CA412544311 | NR0B1 | c.1388T>G (p.Leu463Arg) | gnomAD v4 |
| X | g.30304604A>G | CA412544312 | NR0B1 | c.1388T>C (p.Leu463Pro) | |
| X | g.30304604A>T | CA412544313 | NR0B1 | c.1388T>A (p.Leu463Gln) | |
| X | g.30304605G>A | CA10376255 | NR0B1 | c.1387C>T (p.Leu463=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30304605G>C | CA412544315 | NR0B1 | c.1387C>G (p.Leu463Val) | |
| X | g.30304605G= | CA2422039169 | NR0B1 | c.1387C= (p.Leu463=) | |
| X | g.30304605G>T | CA412544314 | NR0B1 | c.1387C>A (p.Leu463Met) | COSMIC |
| X | g.30304606C>A | CA412544316 | NR0B1 | c.1386G>T (p.Met462Ile) | |
| X | g.30304606C>G | CA412544317 | NR0B1 | c.1386G>C (p.Met462Ile) | |
| X | g.30304606C>T | CA412544318 | NR0B1 | c.1386G>A (p.Met462Ile) | |
| X | g.30304607A>C | CA412544319 | NR0B1 | c.1385T>G (p.Met462Arg) | |
| X | g.30304607A>G | CA412544320 | NR0B1 | c.1385T>C (p.Met462Thr) | |
| X | g.30304607A>T | CA412544321 | NR0B1 | c.1385T>A (p.Met462Lys) | |
| X | g.30304608T>A | CA412544322 | NR0B1 | c.1384A>T (p.Met462Leu) | dbSNP gnomAD v4 |
| X | g.30304608T>C | CA412544323 | NR0B1 | c.1384A>G (p.Met462Val) | |
| X | g.30304608T>G | CA412544324 | NR0B1 | c.1384A>C (p.Met462Leu) | |
| X | g.30304608T= | CA2422039170 | NR0B1 | c.1384A= (p.Met462=) | |
| X | g.30304609C>A | CA412544325 | NR0B1 | c.1383G>T (p.Met461Ile) | |
| X | g.30304609C>G | CA412544326 | NR0B1 | c.1383G>C (p.Met461Ile) | |
| X | g.30304609C>T | CA412544327 | NR0B1 | c.1383G>A (p.Met461Ile) | |
| X | g.30304610A>C | CA412544330 | NR0B1 | c.1382T>G (p.Met461Arg) | |
| X | g.30304610A>G | CA412544329 | NR0B1 | c.1382T>C (p.Met461Thr) | |
| X | g.30304610A>T | CA412544328 | NR0B1 | c.1382T>A (p.Met461Lys) | |
| X | g.30304611T>A | CA412544331 | NR0B1 | c.1381A>T (p.Met461Leu) | |
| X | g.30304611T>C | CA412544332 | NR0B1 | c.1381A>G (p.Met461Val) | |
| X | g.30304611T>G | CA412544333 | NR0B1 | c.1381A>C (p.Met461Leu) | |
| X | g.30304611dup | CA2695232135 | NR0B1 | c.1381dup (p.Met461AsnfsTer?) | |
| X | g.30304612A= | CA2422039171 | NR0B1 | c.1380T= (p.Asp460=) | |
| X | g.30304612A>C | CA412544334 | NR0B1 | c.1380T>G (p.Asp460Glu) | |
| X | g.30304612A>G | CA515715996 | NR0B1 | c.1380T>C (p.Asp460=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304612A>T | CA412544335 | NR0B1 | c.1380T>A (p.Asp460Glu) | |
| X | g.30304613T>A | CA412544336 | NR0B1 | c.1379A>T (p.Asp460Val) | |
| X | g.30304613T>C | CA412544337 | NR0B1 | c.1379A>G (p.Asp460Gly) | dbSNP |
| X | g.30304613T>G | CA412544338 | NR0B1 | c.1379A>C (p.Asp460Ala) | |
| X | g.30304614C>A | CA412544339 | NR0B1 | c.1378G>T (p.Asp460Tyr) | |
| X | g.30304614C>G | CA412544340 | NR0B1 | c.1378G>C (p.Asp460His) | |
| X | g.30304614C>T | CA412544341 | NR0B1 | c.1378G>A (p.Asp460Asn) | |
| X | g.30304615A>C | CA412544342 | NR0B1 | c.1377T>G (p.Asp459Glu) | |
| X | g.30304615A>G | CA515715999 | NR0B1 | c.1377T>C (p.Asp459=) | gnomAD v4 |
| X | g.30304615A>T | CA412544343 | NR0B1 | c.1377T>A (p.Asp459Glu) | |
| X | g.30304615_30304616del | CA2695232136 | NR0B1 | c.1376_1377del (p.Asp459GlyfsTer?) | |
| X | g.30304615_30304616delinsC | CA2580100532 | NR0B1 | c.1376_1377delinsG (p.Asp459GlyfsTer3) | ClinVar |
| X | g.30304616T>A | CA412544345 | NR0B1 | c.1376A>T (p.Asp459Val) | |
| X | g.30304616T>C | CA412544346 | NR0B1 | c.1376A>G (p.Asp459Gly) | |
| X | g.30304616T>G | CA412544344 | NR0B1 | c.1376A>C (p.Asp459Ala) | |
| X | g.30304617C>A | CA412544347 | NR0B1 | c.1375G>T (p.Asp459Tyr) | |
| X | g.30304617C>G | CA412544348 | NR0B1 | c.1375G>C (p.Asp459His) | |
| X | g.30304617C>T | CA412544349 | NR0B1 | c.1375G>A (p.Asp459Asn) | |
| X | g.30304618C>A | CA412544350 | NR0B1 | c.1374G>T (p.Met458Ile) | |
| X | g.30304618C>G | CA412544351 | NR0B1 | c.1374G>C (p.Met458Ile) | |
| X | g.30304618C>T | CA412544352 | NR0B1 | c.1374G>A (p.Met458Ile) | |
| X | g.30304619A>C | CA412544355 | NR0B1 | c.1373T>G (p.Met458Arg) | |
| X | g.30304619A>G | CA412544353 | NR0B1 | c.1373T>C (p.Met458Thr) | |
| X | g.30304619A>T | CA412544354 | NR0B1 | c.1373T>A (p.Met458Lys) | |
| X | g.30304620T>A | CA412544356 | NR0B1 | c.1372A>T (p.Met458Leu) | |
| X | g.30304620T>C | CA412544357 | NR0B1 | c.1372A>G (p.Met458Val) | gnomAD v4 |
| X | g.30304620T>G | CA412544358 | NR0B1 | c.1372A>C (p.Met458Leu) | |
| X | g.30304623_30304631del | CA2695232138 | NR0B1 | c.1364_1372del (p.Thr455_Ser457del) | |
| X | g.30304621G>A | CA515716004 | NR0B1 | c.1371C>T (p.Ser457=) | |
| X | g.30304621G>C | CA412544359 | NR0B1 | c.1371C>G (p.Ser457Arg) | |
| X | g.30304621G>T | CA412544360 | NR0B1 | c.1371C>A (p.Ser457Arg) | |
| X | g.30304622C>A | CA412544363 | NR0B1 | c.1370G>T (p.Ser457Ile) | |
| X | g.30304622C>G | CA412544361 | NR0B1 | c.1370G>C (p.Ser457Thr) | |
| X | g.30304622C>T | CA412544362 | NR0B1 | c.1370G>A (p.Ser457Asn) | COSMIC |
| X | g.30304623T>A | CA412544364 | NR0B1 | c.1369A>T (p.Ser457Cys) | |
| X | g.30304623T>C | CA412544365 | NR0B1 | c.1369A>G (p.Ser457Gly) | |
| X | g.30304623T>G | CA412544366 | NR0B1 | c.1369A>C (p.Ser457Arg) | |
| X | g.30304624G>A | CA515716009 | NR0B1 | c.1368C>T (p.Val456=) | |
| X | g.30304624G>C | CA515716011 | NR0B1 | c.1368C>G (p.Val456=) | |
| X | g.30304624G>T | CA515716012 | NR0B1 | c.1368C>A (p.Val456=) | |
| X | g.30304625A>C | CA412544367 | NR0B1 | c.1367T>G (p.Val456Gly) | |
| X | g.30304625A>G | CA412544368 | NR0B1 | c.1367T>C (p.Val456Ala) | |
| X | g.30304625A>T | CA412544369 | NR0B1 | c.1367T>A (p.Val456Asp) | |
| X | g.30304626C>A | CA412544370 | NR0B1 | c.1366G>T (p.Val456Phe) | |
| X | g.30304626C>G | CA412544371 | NR0B1 | c.1366G>C (p.Val456Leu) | |
| X | g.30304626C>T | CA412544372 | NR0B1 | c.1366G>A (p.Val456Ile) | |
| X | g.30304626_30304628delinsCTG | CA2422039172 | NR0B1 | c.1364_1366delinsCAG (p.Thr455=) | |
| X | g.30304627T>A | CA515716015 | NR0B1 | c.1365A>T (p.Thr455=) | |
| X | g.30304627T>C | CA10376256 | NR0B1 | c.1365A>G (p.Thr455=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304627T>G | CA515716014 | NR0B1 | c.1365A>C (p.Thr455=) | gnomAD v4 |
| X | g.30304627T= | CA2422039173 | NR0B1 | c.1365A= (p.Thr455=) | |
| X | g.30304629_30304630del | CA658684285 | NR0B1 | c.1364_1365del (p.Thr455SerfsTer5) | ClinVar dbSNP |
| X | g.30304628G>A | CA412544373 | NR0B1 | c.1364C>T (p.Thr455Ile) | |
| X | g.30304628G>C | CA412544374 | NR0B1 | c.1364C>G (p.Thr455Arg) | |
| X | g.30304628G>T | CA412544375 | NR0B1 | c.1364C>A (p.Thr455Lys) | |
| X | g.30304629T>A | CA412544378 | NR0B1 | c.1363A>T (p.Thr455Ser) | |
| X | g.30304629T>C | CA412544376 | NR0B1 | c.1363A>G (p.Thr455Ala) | |
| X | g.30304629T>G | CA412544377 | NR0B1 | c.1363A>C (p.Thr455Pro) | |
| X | g.30304630G>A | CA515716018 | NR0B1 | c.1362C>T (p.Gly454=) | gnomAD v4 |
| X | g.30304630G>C | CA515716019 | NR0B1 | c.1362C>G (p.Gly454=) | |
| X | g.30304630G>T | CA515716022 | NR0B1 | c.1362C>A (p.Gly454=) | |
| X | g.30304631C>A | CA412544379 | NR0B1 | c.1361G>T (p.Gly454Val) | |
| X | g.30304631C>G | CA412544380 | NR0B1 | c.1361G>C (p.Gly454Ala) | |
| X | g.30304631C>T | CA412544381 | NR0B1 | c.1361G>A (p.Gly454Asp) | |
| X | g.30304632C>A | CA412544382 | NR0B1 | c.1360G>T (p.Gly454Cys) | gnomAD v4 |
| X | g.30304632C= | CA2422039174 | NR0B1 | c.1360G= (p.Gly454=) | |
| X | g.30304632C>G | CA412544383 | NR0B1 | c.1360G>C (p.Gly454Arg) | |
| X | g.30304632C>T | CA10376257 | NR0B1 | c.1360G>A (p.Gly454Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.30304633G>A | CA10376258 | NR0B1 | c.1359C>T (p.Ile453=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.30304633G>C | CA412544384 | NR0B1 | c.1359C>G (p.Ile453Met) | |
| X | g.30304633G= | CA2422039175 | NR0B1 | c.1359C= (p.Ile453=) | |
| X | g.30304633G>T | CA515716024 | NR0B1 | c.1359C>A (p.Ile453=) | |
| X | g.30304634A>C | CA412544385 | NR0B1 | c.1358T>G (p.Ile453Ser) | |
| X | g.30304634A>G | CA412544387 | NR0B1 | c.1358T>C (p.Ile453Thr) | |
| X | g.30304634A>T | CA412544386 | NR0B1 | c.1358T>A (p.Ile453Asn) | |
| X | g.30304635T>A | CA412544388 | NR0B1 | c.1357A>T (p.Ile453Phe) | |
| X | g.30304635T>C | CA412544389 | NR0B1 | c.1357A>G (p.Ile453Val) | |
| X | g.30304635T>G | CA412544390 | NR0B1 | c.1357A>C (p.Ile453Leu) | |
| X | g.30304636G>A | CA515716025 | NR0B1 | c.1356C>T (p.Ile452=) | |
| X | g.30304636G>C | CA412544391 | NR0B1 | c.1356C>G (p.Ile452Met) | |
| X | g.30304636G>T | CA515716026 | NR0B1 | c.1356C>A (p.Ile452=) | gnomAD v4 |
| X | g.30304637A>C | CA412544392 | NR0B1 | c.1355T>G (p.Ile452Ser) | |
| X | g.30304637A>G | CA412544394 | NR0B1 | c.1355T>C (p.Ile452Thr) | |
| X | g.30304637A>T | CA412544393 | NR0B1 | c.1355T>A (p.Ile452Asn) | |
| X | g.30304638T>A | CA412544395 | NR0B1 | c.1354A>T (p.Ile452Phe) | ClinVar dbSNP |
| X | g.30304638T>C | CA412544396 | NR0B1 | c.1354A>G (p.Ile452Val) | ClinVar gnomAD v4 |
| X | g.30304638T>G | CA412544397 | NR0B1 | c.1354A>C (p.Ile452Leu) | |
| X | g.30304638T= | CA2422039176 | NR0B1 | c.1354A= (p.Ile452=) | |
| X | g.30304639G>A | CA515716027 | NR0B1 | c.1353C>T (p.Pro451=) | gnomAD v4 |
| X | g.30304639G>C | CA515716028 | NR0B1 | c.1353C>G (p.Pro451=) | |
| X | g.30304639G>T | CA515716029 | NR0B1 | c.1353C>A (p.Pro451=) | |
| X | g.30304640G>A | CA412544398 | NR0B1 | c.1352C>T (p.Pro451Leu) | |
| X | g.30304640G>C | CA412544399 | NR0B1 | c.1352C>G (p.Pro451Arg) | |
| X | g.30304640G>T | CA412544400 | NR0B1 | c.1352C>A (p.Pro451His) | |
| X | g.30304641G>A | CA412544401 | NR0B1 | c.1351C>T (p.Pro451Ser) | |
| X | g.30304641G>C | CA412544402 | NR0B1 | c.1351C>G (p.Pro451Ala) | ClinVar |
| X | g.30304641G>T | CA412544403 | NR0B1 | c.1351C>A (p.Pro451Thr) | |
| X | g.30304642C>A | CA412544404 | NR0B1 | c.1350G>T (p.Arg450Ser) | |
| X | g.30304642C= | CA2422039177 | NR0B1 | c.1350G= (p.Arg450=) | |
| X | g.30304642C>G | CA412544405 | NR0B1 | c.1350G>C (p.Arg450Ser) | |
| X | g.30304642C>T | CA327974067 | NR0B1 | c.1350G>A (p.Arg450=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30304643del | CA1139532854 | NR0B1 | c.1350del (p.Arg450SerfsTer12) | ClinVar |
| X | g.30304643C>A | CA412544406 | NR0B1 | c.1349G>T (p.Arg450Met) | |
| X | g.30304643C= | CA2422039178 | NR0B1 | c.1349G= (p.Arg450=) | |
| X | g.30304643C>G | CA412544407 | NR0B1 | c.1349G>C (p.Arg450Thr) | |
| X | g.30304643C>T | CA327974068 | NR0B1 | c.1349G>A (p.Arg450Lys) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30304644T>A | CA412544408 | NR0B1 | c.1348A>T (p.Arg450Trp) | |
| X | g.30304644T>C | CA412544409 | NR0B1 | c.1348A>G (p.Arg450Gly) | dbSNP |
| X | g.30304644T>G | CA515716030 | NR0B1 | c.1348A>C (p.Arg450=) | |
| X | g.30304644T= | CA2422039179 | NR0B1 | c.1348A= (p.Arg450=) | |
| X | g.30304645G>A | CA515716031 | NR0B1 | c.1347C>T (p.Phe449=) | dbSNP |
| X | g.30304645G>C | CA412544410 | NR0B1 | c.1347C>G (p.Phe449Leu) | |
| X | g.30304645G= | CA2422039180 | NR0B1 | c.1347C= (p.Phe449=) | |
| X | g.30304645G>T | CA412544411 | NR0B1 | c.1347C>A (p.Phe449Leu) | |
| X | g.30304646A= | CA2422039181 | NR0B1 | c.1346T= (p.Phe449=) | |
| X | g.30304646A>C | CA10376259 | NR0B1 | c.1346T>G (p.Phe449Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304646A>G | CA412544412 | NR0B1 | c.1346T>C (p.Phe449Ser) | |
| X | g.30304646A>T | CA412544413 | NR0B1 | c.1346T>A (p.Phe449Tyr) | |
| X | g.30304647del | CA2695232140 | NR0B1 | c.1346del (p.Phe449SerfsTer13) | |
| X | g.30304647A>C | CA412544414 | NR0B1 | c.1345T>G (p.Phe449Val) | |
| X | g.30304647A>G | CA412544415 | NR0B1 | c.1345T>C (p.Phe449Leu) | |
| X | g.30304647A>T | CA412544416 | NR0B1 | c.1345T>A (p.Phe449Ile) | |
| X | g.30304648G>A | CA515716032 | NR0B1 | c.1344C>T (p.Phe448=) | |
| X | g.30304648G>C | CA412544417 | NR0B1 | c.1344C>G (p.Phe448Leu) | |
| X | g.30304648G>T | CA412544418 | NR0B1 | c.1344C>A (p.Phe448Leu) | |
| X | g.30304649A>C | CA412544419 | NR0B1 | c.1343T>G (p.Phe448Cys) | |
| X | g.30304649A>G | CA412544420 | NR0B1 | c.1343T>C (p.Phe448Ser) | |
| X | g.30304649A>T | CA412544421 | NR0B1 | c.1343T>A (p.Phe448Tyr) | |
| X | g.30304650A>C | CA412544422 | NR0B1 | c.1342T>G (p.Phe448Val) | |
| X | g.30304650A>G | CA412544424 | NR0B1 | c.1342T>C (p.Phe448Leu) | |
| X | g.30304650A>T | CA412544423 | NR0B1 | c.1342T>A (p.Phe448Ile) | |
| X | g.30304651C>A | CA515716033 | NR0B1 | c.1341G>T (p.Leu447=) | |
| X | g.30304651C>G | CA515716034 | NR0B1 | c.1341G>C (p.Leu447=) | |
| X | g.30304651C>T | CA515716035 | NR0B1 | c.1341G>A (p.Leu447=) | |
| X | g.30304652A= | CA2422039182 | NR0B1 | c.1340T= (p.Leu447=) | |
| X | g.30304652A>C | CA412544425 | NR0B1 | c.1340T>G (p.Leu447Arg) | |
| X | g.30304652A>G | CA412544426 | NR0B1 | c.1340T>C (p.Leu447Pro) | ClinVar dbSNP |
| X | g.30304652A>T | CA412544427 | NR0B1 | c.1340T>A (p.Leu447Gln) | |
| X | g.30304653G>A | CA515716036 | NR0B1 | c.1339C>T (p.Leu447=) | |
| X | g.30304653G>C | CA412544428 | NR0B1 | c.1339C>G (p.Leu447Val) | |
| X | g.30304653G>T | CA412544429 | NR0B1 | c.1339C>A (p.Leu447Met) | |
| X | g.30304654T>A | CA412544430 | NR0B1 | c.1338A>T (p.Glu446Asp) | |
| X | g.30304654T>C | CA515716037 | NR0B1 | c.1338A>G (p.Glu446=) | |
| X | g.30304654T>G | CA412544431 | NR0B1 | c.1338A>C (p.Glu446Asp) | |
| X | g.30304655T>A | CA412544432 | NR0B1 | c.1337A>T (p.Glu446Val) | |
| X | g.30304655T>C | CA412544433 | NR0B1 | c.1337A>G (p.Glu446Gly) | |
| X | g.30304655T>G | CA412544434 | NR0B1 | c.1337A>C (p.Glu446Ala) | |
| X | g.30304656C>A | CA412544436 | NR0B1 | c.1336G>T (p.Glu446Ter) | |
| X | g.30304656C>G | CA412544437 | NR0B1 | c.1336G>C (p.Glu446Gln) | |
| X | g.30304656C>T | CA412544435 | NR0B1 | c.1336G>A (p.Glu446Lys) | |
| X | g.30304657A>C | CA515716038 | NR0B1 | c.1335T>G (p.Ala445=) | |
| X | g.30304657A>G | CA515716039 | NR0B1 | c.1335T>C (p.Ala445=) | gnomAD v4 |
| X | g.30304657A>T | CA515716040 | NR0B1 | c.1335T>A (p.Ala445=) | |
| X | g.30304658del | CA2739290471 | NR0B1 | c.1334del (p.Ala445ValfsTer17) | |
| X | g.30304658G>A | CA412544438 | NR0B1 | c.1334C>T (p.Ala445Val) | COSMIC |
| X | g.30304658G>C | CA412544439 | NR0B1 | c.1334C>G (p.Ala445Gly) | |
| X | g.30304658G>T | CA412544440 | NR0B1 | c.1334C>A (p.Ala445Asp) | |
| X | g.30304659C>A | CA412544441 | NR0B1 | c.1333G>T (p.Ala445Ser) | |
| X | g.30304659C>G | CA412544442 | NR0B1 | c.1333G>C (p.Ala445Pro) | |
| X | g.30304659C>T | CA412544443 | NR0B1 | c.1333G>A (p.Ala445Thr) | |
| X | g.30304660A= | CA2422039183 | NR0B1 | c.1332T= (p.Ile444=) | |
| X | g.30304660A>C | CA412544444 | NR0B1 | c.1332T>G (p.Ile444Met) | |
| X | g.30304660A>G | CA10376260 | NR0B1 | c.1332T>C (p.Ile444=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304660A>T | CA515716041 | NR0B1 | c.1332T>A (p.Ile444=) | |
| X | g.30304661A>C | CA412544445 | NR0B1 | c.1331T>G (p.Ile444Ser) | |
| X | g.30304661A>G | CA412544446 | NR0B1 | c.1331T>C (p.Ile444Thr) | |
| X | g.30304661A>T | CA412544447 | NR0B1 | c.1331T>A (p.Ile444Asn) | |
| X | g.30304662T>A | CA412544448 | NR0B1 | c.1330A>T (p.Ile444Phe) | |
| X | g.30304662T>C | CA412544449 | NR0B1 | c.1330A>G (p.Ile444Val) | |
| X | g.30304662T>G | CA327974085 | NR0B1 | c.1330A>C (p.Ile444Leu) | dbSNP |
| X | g.30304662T= | CA2422039184 | NR0B1 | c.1330A= (p.Ile444=) | |
| X | g.30304663G>A | CA515716042 | NR0B1 | c.1329C>T (p.Val443=) | |
| X | g.30304663G>C | CA515716043 | NR0B1 | c.1329C>G (p.Val443=) | |
| X | g.30304663G>T | CA515716044 | NR0B1 | c.1329C>A (p.Val443=) | |
| X | g.30304664A>C | CA412544450 | NR0B1 | c.1328T>G (p.Val443Gly) | |
| X | g.30304664A>G | CA412544452 | NR0B1 | c.1328T>C (p.Val443Ala) | |
| X | g.30304664A>T | CA412544451 | NR0B1 | c.1328T>A (p.Val443Asp) | |
| X | g.30304665C>A | CA412544453 | NR0B1 | c.1327G>T (p.Val443Phe) | |
| X | g.30304665C>G | CA412544454 | NR0B1 | c.1327G>C (p.Val443Leu) | |
| X | g.30304665C>T | CA412544455 | NR0B1 | c.1327G>A (p.Val443Ile) | |
| X | g.30304666del | CA2695232142 | NR0B1 | c.1326del (p.Asn442LysfsTer20) | |
| X | g.30304666A>C | CA412544456 | NR0B1 | c.1326T>G (p.Asn442Lys) | |
| X | g.30304666A>G | CA515716046 | NR0B1 | c.1326T>C (p.Asn442=) | |
| X | g.30304666A>T | CA412544457 | NR0B1 | c.1326T>A (p.Asn442Lys) | |
| X | g.30304667T>A | CA412544458 | NR0B1 | c.1325A>T (p.Asn442Ile) | |
| X | g.30304667T>C | CA10376261 | NR0B1 | c.1325A>G (p.Asn442Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30304667T>G | CA412544459 | NR0B1 | c.1325A>C (p.Asn442Thr) | |
| X | g.30304667T= | CA2422039185 | NR0B1 | c.1325A= (p.Asn442=) | |
| X | g.30304668T>A | CA412544460 | NR0B1 | c.1324A>T (p.Asn442Tyr) | |
| X | g.30304668T>C | CA412544461 | NR0B1 | c.1324A>G (p.Asn442Asp) | |
| X | g.30304668T>G | CA412544462 | NR0B1 | c.1324A>C (p.Asn442His) | |
| X | g.30304669G>A | CA515716047 | NR0B1 | c.1323C>T (p.Ala441=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304669G>C | CA515716048 | NR0B1 | c.1323C>G (p.Ala441=) | ClinVar gnomAD v4 |
| X | g.30304669G= | CA2422039186 | NR0B1 | c.1323C= (p.Ala441=) | |
| X | g.30304669G>T | CA515716049 | NR0B1 | c.1323C>A (p.Ala441=) | |
| X | g.30304670G>A | CA412544465 | NR0B1 | c.1322C>T (p.Ala441Val) | |
| X | g.30304670G>C | CA412544464 | NR0B1 | c.1322C>G (p.Ala441Gly) | |
| X | g.30304670G>T | CA412544463 | NR0B1 | c.1322C>A (p.Ala441Asp) | |
| X | g.30304671_30304678del | CA2695232143 | NR0B1 | c.1315_1322del (p.Ile439GlnfsTer5) | |
| X | g.30304671C>A | CA412544466 | NR0B1 | c.1321G>T (p.Ala441Ser) | |
| X | g.30304671C= | CA2422039187 | NR0B1 | c.1321G= (p.Ala441=) | |
| X | g.30304671C>G | CA412544468 | NR0B1 | c.1321G>C (p.Ala441Pro) | |
| X | g.30304671C>T | CA412544467 | NR0B1 | c.1321G>A (p.Ala441Thr) | dbSNP |
| X | g.30304672A= | CA2422039188 | NR0B1 | c.1320T= (p.Asn440=) | |
| X | g.30304672A>C | CA412544469 | NR0B1 | c.1320T>G (p.Asn440Lys) | |
| X | g.30304672A>G | CA10376262 | NR0B1 | c.1320T>C (p.Asn440=) | dbSNP ExAC gnomAD v2 |
| X | g.30304672A>T | CA412544470 | NR0B1 | c.1320T>A (p.Asn440Lys) | gnomAD v4 |
| X | g.30304673T>A | CA255628 | NR0B1 | c.1319A>T (p.Asn440Ile) | ClinVar dbSNP |
| X | g.30304673T>C | CA327974104 | NR0B1 | c.1319A>G (p.Asn440Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304673T>G | CA412544471 | NR0B1 | c.1319A>C (p.Asn440Thr) | |
| X | g.30304673T= | CA2422039189 | NR0B1 | c.1319A= (p.Asn440=) | |
| X | g.30304674T>A | CA412544472 | NR0B1 | c.1318A>T (p.Asn440Tyr) | |
| X | g.30304674T>C | CA412544474 | NR0B1 | c.1318A>G (p.Asn440Asp) | |
| X | g.30304674T>G | CA412544473 | NR0B1 | c.1318A>C (p.Asn440His) | |
| X | g.30304675G>A | CA515716051 | NR0B1 | c.1317C>T (p.Ile439=) | |
| X | g.30304675G>C | CA412544475 | NR0B1 | c.1317C>G (p.Ile439Met) | |
| X | g.30304675G>T | CA515716053 | NR0B1 | c.1317C>A (p.Ile439=) | |
| X | g.30304676A= | CA2422039190 | NR0B1 | c.1316T= (p.Ile439=) | |
| X | g.30304676A>C | CA255637 | NR0B1 | c.1316T>G (p.Ile439Ser) | ClinVar dbSNP |
| X | g.30304676A>G | CA412544476 | NR0B1 | c.1316T>C (p.Ile439Thr) | gnomAD v4 |
| X | g.30304676A>T | CA412544477 | NR0B1 | c.1316T>A (p.Ile439Asn) | |
| X | g.30304677T>A | CA412544478 | NR0B1 | c.1315A>T (p.Ile439Phe) | |
| X | g.30304677T>C | CA412544479 | NR0B1 | c.1315A>G (p.Ile439Val) | gnomAD v4 |
| X | g.30304677T>G | CA412544480 | NR0B1 | c.1315A>C (p.Ile439Leu) | gnomAD v4 |
| X | g.30304678G>A | CA515716054 | NR0B1 | c.1314C>T (p.Phe438=) | dbSNP |
| X | g.30304678G>C | CA412544481 | NR0B1 | c.1314C>G (p.Phe438Leu) | |
| X | g.30304678G= | CA2422039191 | NR0B1 | c.1314C= (p.Phe438=) | |
| X | g.30304678G>T | CA412544482 | NR0B1 | c.1314C>A (p.Phe438Leu) | |
| X | g.30304679A= | CA2422039192 | NR0B1 | c.1313T= (p.Phe438=) | |
| X | g.30304679A>C | CA10376263 | NR0B1 | c.1313T>G (p.Phe438Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30304679A>G | CA412544483 | NR0B1 | c.1313T>C (p.Phe438Ser) | |
| X | g.30304679A>T | CA412544484 | NR0B1 | c.1313T>A (p.Phe438Tyr) | |
| X | g.30304680A>C | CA412544487 | NR0B1 | c.1312T>G (p.Phe438Val) | |
| X | g.30304680A>G | CA412544485 | NR0B1 | c.1312T>C (p.Phe438Leu) | |
| X | g.30304680A>T | CA412544486 | NR0B1 | c.1312T>A (p.Phe438Ile) | |
| 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 |