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.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.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)
| |
X | g.30304782G>A | CA412545577 | NR0B1 | c.1210C>T (p.Gln404Ter)
| |
X | g.30304782G>C | CA412545574 | NR0B1 | c.1210C>G (p.Gln404Glu)
| |
X | g.30304782G>T | CA412545573 | NR0B1 | c.1210C>A (p.Gln404Lys)
| |
X | g.30304783G>A | CA515716844 | NR0B1 | c.1209C>T (p.Leu403=)
| |
X | g.30304783G>C | CA327974213 | NR0B1 | c.1209C>G (p.Leu403=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.30304783G= | CA2422039226 | NR0B1 | c.1209C= (p.Leu403=)
| |
X | g.30304783G>T | CA515716843 | NR0B1 | c.1209C>A (p.Leu403=)
| |
X | g.30304784A>C | CA412545579 | NR0B1 | c.1208T>G (p.Leu403Arg)
| |
X | g.30304784A>G | CA412545581 | NR0B1 | c.1208T>C (p.Leu403Pro)
| |
X | g.30304784A>T | CA412545583 | NR0B1 | c.1208T>A (p.Leu403His)
| |
X | g.30304785G>A | CA412545586 | NR0B1 | c.1207C>T (p.Leu403Phe)
| |
X | g.30304785G>C | CA412545588 | NR0B1 | c.1207C>G (p.Leu403Val)
| |
X | g.30304785G>T | CA412545589 | NR0B1 | c.1207C>A (p.Leu403Ile)
| |
X | g.30304786T>A | CA515716860 | NR0B1 | c.1206A>T (p.Gly402=)
| |
X | g.30304786T>C | CA515716862 | NR0B1 | c.1206A>G (p.Gly402=)
| |
X | g.30304786T>G | CA10376277 | NR0B1 | c.1206A>C (p.Gly402=)
| dbSNP ExAC |
X | g.30304786T= | CA2422039227 | NR0B1 | c.1206A= (p.Gly402=)
| |
X | g.30304787C>A | CA412545594 | NR0B1 | c.1205G>T (p.Gly402Val)
| |
X | g.30304787C>G | CA412545596 | NR0B1 | c.1205G>C (p.Gly402Ala)
| |
X | g.30304787C>T | CA412545598 | NR0B1 | c.1205G>A (p.Gly402Glu)
| gnomAD v4 |
X | g.30304788C>A | CA412545600 | NR0B1 | c.1204G>T (p.Gly402Ter)
| COSMIC |
X | g.30304788C>G | CA412545602 | NR0B1 | c.1204G>C (p.Gly402Arg)
| |
X | g.30304788C>T | CA412545604 | NR0B1 | c.1204G>A (p.Gly402Arg)
| |
X | g.30304789C>A | CA412545609 | NR0B1 | c.1203G>T (p.Gln401His)
| |
X | g.30304789C>G | CA412545607 | NR0B1 | c.1203G>C (p.Gln401His)
| |
X | g.30304789C>T | CA515716879 | NR0B1 | c.1203G>A (p.Gln401=)
| gnomAD v4 |
X | g.30304790T>A | CA327974221 | NR0B1 | c.1202A>T (p.Gln401Leu)
| dbSNP gnomAD v2 gnomAD v4 |
X | g.30304790T>C | CA412545613 | NR0B1 | c.1202A>G (p.Gln401Arg)
| |
X | g.30304790T>G | CA412545615 | NR0B1 | c.1202A>C (p.Gln401Pro)
| |
X | g.30304790T= | CA2422039228 | NR0B1 | c.1202A= (p.Gln401=)
| |
X | g.30304791G>A | CA412545617 | NR0B1 | c.1201C>T (p.Gln401Ter)
| ClinVar |
X | g.30304791G>C | CA412545619 | NR0B1 | c.1201C>G (p.Gln401Glu)
| |
X | g.30304791G= | CA2422039229 | NR0B1 | c.1201C= (p.Gln401=)
| |
X | g.30304791G>T | CA10376278 | NR0B1 | c.1201C>A (p.Gln401Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30304792A>C | CA412545622 | NR0B1 | c.1200T>G (p.Ile400Met)
| |
X | g.30304792A>G | CA515716894 | NR0B1 | c.1200T>C (p.Ile400=)
| |
X | g.30304792A>T | CA515716896 | NR0B1 | c.1200T>A (p.Ile400=)
| |
X | g.30304793A>C | CA412545629 | NR0B1 | c.1199T>G (p.Ile400Ser)
| |
X | g.30304793A>G | CA412545625 | NR0B1 | c.1199T>C (p.Ile400Thr)
| gnomAD v4 |
X | g.30304793A>T | CA412545627 | NR0B1 | c.1199T>A (p.Ile400Asn)
| |
X | g.30304794T>A | CA412545631 | NR0B1 | c.1198A>T (p.Ile400Phe)
| |
X | g.30304794T>C | CA10376279 | NR0B1 | c.1198A>G (p.Ile400Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304794T>G | CA412545634 | NR0B1 | c.1198A>C (p.Ile400Leu)
| |
X | g.30304794T= | CA2422039230 | NR0B1 | c.1198A= (p.Ile400=)
| |
X | g.30304795G>A | CA515716910 | NR0B1 | c.1197C>T (p.Tyr399=)
| |
X | g.30304795G>C | CA412545636 | NR0B1 | c.1197C>G (p.Tyr399Ter)
| |
X | g.30304795G= | CA2422039231 | NR0B1 | c.1197C= (p.Tyr399=)
| |
X | g.30304795G>T | CA255640 | NR0B1 | c.1197C>A (p.Tyr399Ter)
| ClinVar dbSNP |
X | g.30304796T>A | CA412545640 | NR0B1 | c.1196A>T (p.Tyr399Phe)
| |
X | g.30304796T>C | CA412545644 | NR0B1 | c.1196A>G (p.Tyr399Cys)
| ClinVar dbSNP |
X | g.30304796T>G | CA412545642 | NR0B1 | c.1196A>C (p.Tyr399Ser)
| |
X | g.30304797A>C | CA412545646 | NR0B1 | c.1195T>G (p.Tyr399Asp)
| |
X | g.30304797A>G | CA412545648 | NR0B1 | c.1195T>C (p.Tyr399His)
| |
X | g.30304797A>T | CA412545664 | NR0B1 | c.1195T>A (p.Tyr399Asn)
| |
X | g.30304798C>A | CA412545665 | NR0B1 | c.1194G>T (p.Lys398Asn)
| |
X | g.30304798C= | CA2422039232 | NR0B1 | c.1194G= (p.Lys398=)
| |
X | g.30304798C>G | CA412545666 | NR0B1 | c.1194G>C (p.Lys398Asn)
| |
X | g.30304798C>T | CA327974249 | NR0B1 | c.1194G>A (p.Lys398=)
| dbSNP |
X | g.30304799T>A | CA412545667 | NR0B1 | c.1193A>T (p.Lys398Met)
| |
X | g.30304799T>C | CA412545668 | NR0B1 | c.1193A>G (p.Lys398Arg)
| |
X | g.30304799T>G | CA412545669 | NR0B1 | c.1193A>C (p.Lys398Thr)
| |
X | g.30304800T>A | CA412545670 | NR0B1 | c.1192A>T (p.Lys398Ter)
| |
X | g.30304800T>C | CA412545671 | NR0B1 | c.1192A>G (p.Lys398Glu)
| COSMIC |
X | g.30304800T>G | CA412545672 | NR0B1 | c.1192A>C (p.Lys398Gln)
| |
X | g.30304801C>A | CA515716941 | NR0B1 | c.1191G>T (p.Val397=)
| |
X | g.30304801C>G | CA515716943 | NR0B1 | c.1191G>C (p.Val397=)
| |
X | g.30304801C>T | CA515716945 | NR0B1 | c.1191G>A (p.Val397=)
| |
X | g.30304802A>C | CA412545673 | NR0B1 | c.1190T>G (p.Val397Gly)
| |
X | g.30304802A>G | CA412545675 | NR0B1 | c.1190T>C (p.Val397Ala)
| |
X | g.30304802A>T | CA412545674 | NR0B1 | c.1190T>A (p.Val397Glu)
| |
X | g.30304803C>A | CA412545676 | NR0B1 | c.1189G>T (p.Val397Leu)
| |
X | g.30304803C= | CA2422039233 | NR0B1 | c.1189G= (p.Val397=)
| |
X | g.30304803C>G | CA412545679 | NR0B1 | c.1189G>C (p.Val397Leu)
| |
X | g.30304803C>T | CA412545677 | NR0B1 | c.1189G>A (p.Val397Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304804G>A | CA10376280 | NR0B1 | c.1188C>T (p.Cys396=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30304804G>C | CA412545682 | NR0B1 | c.1188C>G (p.Cys396Trp)
| |
X | g.30304804G= | CA2422039234 | NR0B1 | c.1188C= (p.Cys396=)
| |
X | g.30304804G>T | CA412545684 | NR0B1 | c.1188C>A (p.Cys396Ter)
| |
X | g.30304805C>A | CA412545686 | NR0B1 | c.1187G>T (p.Cys396Phe)
| |
X | g.30304805C>G | CA412545688 | NR0B1 | c.1187G>C (p.Cys396Ser)
| |
X | g.30304805C>T | CA412545690 | NR0B1 | c.1187G>A (p.Cys396Tyr)
| |
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 |