| 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.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)
| ClinVar |
| 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 |
| 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=)
| |
