| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308263T>A | CA412546508 | NR0B1 | c.1101A>T (p.Lys367Asn) c.216A>T (p.Lys72Asn) | |
| X | g.30308263T>C | CA515717427 | NR0B1 | c.1101A>G (p.Lys367=) c.216A>G (p.Lys72=) | |
| X | g.30308263T>G | CA412546510 | NR0B1 | c.1101A>C (p.Lys367Asn) c.216A>C (p.Lys72Asn) | |
| X | g.30308264T>A | CA412546512 | NR0B1 | c.1100A>T (p.Lys367Ile) c.215A>T (p.Lys72Ile) | |
| X | g.30308264T>C | CA412546515 | NR0B1 | c.1100A>G (p.Lys367Arg) c.215A>G (p.Lys72Arg) | |
| X | g.30308264T>G | CA412546517 | NR0B1 | c.1100A>C (p.Lys367Thr) c.215A>C (p.Lys72Thr) | |
| X | g.30308265T>A | CA412546519 | NR0B1 | c.1099A>T (p.Lys367Ter) c.214A>T (p.Lys72Ter) | |
| X | g.30308265T>C | CA412546521 | NR0B1 | c.1099A>G (p.Lys367Glu) c.214A>G (p.Lys72Glu) | |
| X | g.30308265T>G | CA412546523 | NR0B1 | c.1099A>C (p.Lys367Gln) c.214A>C (p.Lys72Gln) | |
| X | g.30308266G>A | CA515717428 | NR0B1 | c.1098C>T (p.Ser366=) c.213C>T (p.Ser71=) | |
| X | g.30308266G>C | CA515717429 | NR0B1 | c.1098C>G (p.Ser366=) c.213C>G (p.Ser71=) | |
| X | g.30308266G>T | CA515717430 | NR0B1 | c.1098C>A (p.Ser366=) c.213C>A (p.Ser71=) | |
| X | g.30308267G>A | CA412546524 | NR0B1 | c.1097C>T (p.Ser366Phe) c.212C>T (p.Ser71Phe) | |
| X | g.30308267G>C | CA412546526 | NR0B1 | c.1097C>G (p.Ser366Cys) c.212C>G (p.Ser71Cys) | |
| X | g.30308267G>T | CA412546528 | NR0B1 | c.1097C>A (p.Ser366Tyr) c.212C>A (p.Ser71Tyr) | |
| X | g.30308268A>C | CA412546530 | NR0B1 | c.1096T>G (p.Ser366Ala) c.211T>G (p.Ser71Ala) | |
| X | g.30308268A>G | CA412546531 | NR0B1 | c.1096T>C (p.Ser366Pro) c.211T>C (p.Ser71Pro) | |
| X | g.30308268A>T | CA412546533 | NR0B1 | c.1096T>A (p.Ser366Thr) c.211T>A (p.Ser71Thr) | |
| X | g.30308269A>C | CA515717433 | NR0B1 | c.1095T>G (p.Leu365=) c.210T>G (p.Leu70=) | |
| X | g.30308269A>G | CA515717431 | NR0B1 | c.1095T>C (p.Leu365=) c.210T>C (p.Leu70=) | |
| X | g.30308269A>T | CA515717432 | NR0B1 | c.1095T>A (p.Leu365=) c.210T>A (p.Leu70=) | |
| X | g.30308270A= | CA2422040385 | NR0B1 | c.1094T= (p.Leu365=) c.209T= (p.Leu70=) | |
| X | g.30308270A>C | CA412546539 | NR0B1 | c.1094T>G (p.Leu365Arg) c.209T>G (p.Leu70Arg) | |
| X | g.30308270A>G | CA260497 | NR0B1 | c.1094T>C (p.Leu365Pro) c.209T>C (p.Leu70Pro) | ClinVar dbSNP |
| X | g.30308270A>T | CA412546535 | NR0B1 | c.1094T>A (p.Leu365His) c.209T>A (p.Leu70His) | |
| X | g.30308271G>A | CA412546547 | NR0B1 | c.1093C>T (p.Leu365Phe) c.208C>T (p.Leu70Phe) | |
| X | g.30308271G>C | CA412546542 | NR0B1 | c.1093C>G (p.Leu365Val) c.208C>G (p.Leu70Val) | |
| X | g.30308271G>T | CA412546543 | NR0B1 | c.1093C>A (p.Leu365Ile) c.208C>A (p.Leu70Ile) | COSMIC COSMIC |
| X | g.30308272A>C | CA412546549 | NR0B1 | c.1092T>G (p.Phe364Leu) c.207T>G (p.Phe69Leu) | |
| X | g.30308272A>G | CA515717434 | NR0B1 | c.1092T>C (p.Phe364=) c.207T>C (p.Phe69=) | |
| X | g.30308272A>T | CA412546550 | NR0B1 | c.1092T>A (p.Phe364Leu) c.207T>A (p.Phe69Leu) | |
| X | g.30308274del | CA2695232165 | NR0B1 | c.1092del (p.Leu365PhefsTer7) c.207del (p.Leu70PhefsTer7) | |
| X | g.30308273A>C | CA412546553 | NR0B1 | c.1091T>G (p.Phe364Cys) c.206T>G (p.Phe69Cys) | |
| X | g.30308273A>G | CA412546561 | NR0B1 | c.1091T>C (p.Phe364Ser) c.206T>C (p.Phe69Ser) | |
| X | g.30308273A>T | CA412546562 | NR0B1 | c.1091T>A (p.Phe364Tyr) c.206T>A (p.Phe69Tyr) | |
| X | g.30308274A>C | CA412546567 | NR0B1 | c.1090T>G (p.Phe364Val) c.205T>G (p.Phe69Val) | |
| X | g.30308274A>G | CA412546564 | NR0B1 | c.1090T>C (p.Phe364Leu) c.205T>C (p.Phe69Leu) | |
| X | g.30308274A>T | CA412546566 | NR0B1 | c.1090T>A (p.Phe364Ile) c.205T>A (p.Phe69Ile) | |
| X | g.30308275G>A | CA515717435 | NR0B1 | c.1089C>T (p.Cys363=) c.204C>T (p.Cys68=) | gnomAD v4 |
| X | g.30308275G>C | CA412546570 | NR0B1 | c.1089C>G (p.Cys363Trp) c.204C>G (p.Cys68Trp) | |
| X | g.30308275G>T | CA412546571 | NR0B1 | c.1089C>A (p.Cys363Ter) c.204C>A (p.Cys68Ter) | |
| X | g.30308276C>A | CA412546573 | NR0B1 | c.1088G>T (p.Cys363Phe) c.203G>T (p.Cys68Phe) | |
| X | g.30308276C>G | CA412546575 | NR0B1 | c.1088G>C (p.Cys363Ser) c.203G>C (p.Cys68Ser) | |
| X | g.30308276C>T | CA412546578 | NR0B1 | c.1088G>A (p.Cys363Tyr) c.203G>A (p.Cys68Tyr) | |
| X | g.30308277A>C | CA412546581 | NR0B1 | c.1087T>G (p.Cys363Gly) c.202T>G (p.Cys68Gly) | |
| X | g.30308277A>G | CA412546584 | NR0B1 | c.1087T>C (p.Cys363Arg) c.202T>C (p.Cys68Arg) | |
| X | g.30308277A>T | CA412546583 | NR0B1 | c.1087T>A (p.Cys363Ser) c.202T>A (p.Cys68Ser) | |
| X | g.30308278C>A | CA412546585 | NR0B1 | c.1086G>T (p.Lys362Asn) c.201G>T (p.Lys67Asn) | |
| X | g.30308278C>G | CA412546587 | NR0B1 | c.1086G>C (p.Lys362Asn) c.201G>C (p.Lys67Asn) | |
| X | g.30308278C>T | CA515717436 | NR0B1 | c.1086G>A (p.Lys362=) c.201G>A (p.Lys67=) | gnomAD v4 |
| X | g.30308279T>A | CA412546589 | NR0B1 | c.1085A>T (p.Lys362Met) c.200A>T (p.Lys67Met) | |
| X | g.30308279T>C | CA412546590 | NR0B1 | c.1085A>G (p.Lys362Arg) c.200A>G (p.Lys67Arg) | |
| X | g.30308279T>G | CA412546592 | NR0B1 | c.1085A>C (p.Lys362Thr) c.200A>C (p.Lys67Thr) | |
| X | g.30308280T>A | CA412546593 | NR0B1 | c.1084A>T (p.Lys362Ter) c.199A>T (p.Lys67Ter) | |
| X | g.30308280T>C | CA412546594 | NR0B1 | c.1084A>G (p.Lys362Glu) c.199A>G (p.Lys67Glu) | |
| X | g.30308280T>G | CA412546595 | NR0B1 | c.1084A>C (p.Lys362Gln) c.199A>C (p.Lys67Gln) | |
| X | g.30308281G>A | CA515717437 | NR0B1 | c.1083C>T (p.Ile361=) c.198C>T (p.Ile66=) | gnomAD v4 |
| X | g.30308281G>C | CA412546596 | NR0B1 | c.1083C>G (p.Ile361Met) c.198C>G (p.Ile66Met) | COSMIC COSMIC |
| X | g.30308281G>T | CA515717438 | NR0B1 | c.1083C>A (p.Ile361=) c.198C>A (p.Ile66=) | |
| X | g.30308282A>C | CA412546605 | NR0B1 | c.1082T>G (p.Ile361Ser) c.197T>G (p.Ile66Ser) | ClinVar |
| X | g.30308282A>G | CA412546607 | NR0B1 | c.1082T>C (p.Ile361Thr) c.197T>C (p.Ile66Thr) | |
| X | g.30308282A>T | CA412546608 | NR0B1 | c.1082T>A (p.Ile361Asn) c.197T>A (p.Ile66Asn) | |
| X | g.30308283T>A | CA412546617 | NR0B1 | c.1081A>T (p.Ile361Phe) c.196A>T (p.Ile66Phe) | |
| X | g.30308283T>C | CA412546613 | NR0B1 | c.1081A>G (p.Ile361Val) c.196A>G (p.Ile66Val) | gnomAD v4 |
| X | g.30308283T>G | CA412546614 | NR0B1 | c.1081A>C (p.Ile361Leu) c.196A>C (p.Ile66Leu) | |
| X | g.30308284G>A | CA515717439 | NR0B1 | c.1080C>T (p.Ala360=) c.195C>T (p.Ala65=) | |
| X | g.30308284G>C | CA515717440 | NR0B1 | c.1080C>G (p.Ala360=) c.195C>G (p.Ala65=) | |
| X | g.30308284G>T | CA515717441 | NR0B1 | c.1080C>A (p.Ala360=) c.195C>A (p.Ala65=) | |
| X | g.30308285G>A | CA412546623 | NR0B1 | c.1079C>T (p.Ala360Val) c.194C>T (p.Ala65Val) | |
| X | g.30308285G>C | CA412546624 | NR0B1 | c.1079C>G (p.Ala360Gly) c.194C>G (p.Ala65Gly) | |
| X | g.30308285G>T | CA412546626 | NR0B1 | c.1079C>A (p.Ala360Asp) c.194C>A (p.Ala65Asp) | |
| X | g.30308286C>A | CA412546628 | NR0B1 | c.1078G>T (p.Ala360Ser) c.193G>T (p.Ala65Ser) | |
| X | g.30308286C= | CA2422040386 | NR0B1 | c.1078G= (p.Ala360=) c.193G= (p.Ala65=) | |
| X | g.30308286C>G | CA412546629 | NR0B1 | c.1078G>C (p.Ala360Pro) c.193G>C (p.Ala65Pro) | dbSNP |
| X | g.30308286C>T | CA412546631 | NR0B1 | c.1078G>A (p.Ala360Thr) c.193G>A (p.Ala65Thr) | |
| X | g.30308287T>A | CA412546636 | NR0B1 | c.1077A>T (p.Gln359His) c.192A>T (p.Gln64His) | |
| X | g.30308287T>C | CA515717442 | NR0B1 | c.1077A>G (p.Gln359=) c.192A>G (p.Gln64=) | |
| X | g.30308287T>G | CA412546634 | NR0B1 | c.1077A>C (p.Gln359His) c.192A>C (p.Gln64His) | |
| X | g.30308288T>A | CA412546638 | NR0B1 | c.1076A>T (p.Gln359Leu) c.191A>T (p.Gln64Leu) | |
| X | g.30308288T>C | CA412546640 | NR0B1 | c.1076A>G (p.Gln359Arg) c.191A>G (p.Gln64Arg) | |
| X | g.30308288T>G | CA412546646 | NR0B1 | c.1076A>C (p.Gln359Pro) c.191A>C (p.Gln64Pro) | |
| X | g.30308289G>A | CA327975821 | NR0B1 | c.1075C>T (p.Gln359Ter) c.190C>T (p.Gln64Ter) | dbSNP |
| X | g.30308289G>C | CA412546652 | NR0B1 | c.1075C>G (p.Gln359Glu) c.190C>G (p.Gln64Glu) | |
| X | g.30308289G= | CA2422040387 | NR0B1 | c.1075C= (p.Gln359=) c.190C= (p.Gln64=) | |
| X | g.30308289G>T | CA412546654 | NR0B1 | c.1075C>A (p.Gln359Lys) c.190C>A (p.Gln64Lys) | |
| X | g.30308290G>A | CA515717444 | NR0B1 | c.1074C>T (p.Val358=) c.189C>T (p.Val63=) | |
| X | g.30308290G>C | CA515717445 | NR0B1 | c.1074C>G (p.Val358=) c.189C>G (p.Val63=) | |
| X | g.30308290G>T | CA515717446 | NR0B1 | c.1074C>A (p.Val358=) c.189C>A (p.Val63=) | |
| X | g.30308291A>C | CA412546658 | NR0B1 | c.1073T>G (p.Val358Gly) c.188T>G (p.Val63Gly) | |
| X | g.30308291A>G | CA412546655 | NR0B1 | c.1073T>C (p.Val358Ala) c.188T>C (p.Val63Ala) | gnomAD v4 |
| X | g.30308291A>T | CA412546656 | NR0B1 | c.1073T>A (p.Val358Asp) c.188T>A (p.Val63Asp) | |
| X | g.30308292C>A | CA412546660 | NR0B1 | c.1072G>T (p.Val358Phe) c.187G>T (p.Val63Phe) | |
| X | g.30308292C>G | CA412546661 | NR0B1 | c.1072G>C (p.Val358Leu) c.187G>C (p.Val63Leu) | |
| X | g.30308292C>T | CA412546664 | NR0B1 | c.1072G>A (p.Val358Ile) c.187G>A (p.Val63Ile) | |
| X | g.30308293C>A | CA412546667 | NR0B1 | c.1071G>T (p.Gln357His) c.186G>T (p.Gln62His) | dbSNP gnomAD v4 |
| X | g.30308293C= | CA2422040388 | NR0B1 | c.1071G= (p.Gln357=) c.186G= (p.Gln62=) | |
| X | g.30308293C>G | CA412546669 | NR0B1 | c.1071G>C (p.Gln357His) c.186G>C (p.Gln62His) | |
| X | g.30308293C>T | CA515717448 | NR0B1 | c.1071G>A (p.Gln357=) c.186G>A (p.Gln62=) | gnomAD v4 |
| X | g.30308294T>A | CA412546670 | NR0B1 | c.1070A>T (p.Gln357Leu) c.185A>T (p.Gln62Leu) | |
| X | g.30308294T>C | CA412546672 | NR0B1 | c.1070A>G (p.Gln357Arg) c.185A>G (p.Gln62Arg) | gnomAD v4 |
| X | g.30308294T>G | CA412546676 | NR0B1 | c.1070A>C (p.Gln357Pro) c.185A>C (p.Gln62Pro) | |
| X | g.30308295G>A | CA412546677 | NR0B1 | c.1069C>T (p.Gln357Ter) c.184C>T (p.Gln62Ter) | |
| X | g.30308295G>C | CA412546678 | NR0B1 | c.1069C>G (p.Gln357Glu) c.184C>G (p.Gln62Glu) | |
| X | g.30308295G>T | CA412546679 | NR0B1 | c.1069C>A (p.Gln357Lys) c.184C>A (p.Gln62Lys) | COSMIC |
| X | g.30308297del | CA2695200167 | NR0B1 | c.1069del (p.Gln357ArgfsTer15) c.184del (p.Gln62ArgfsTer15) | ClinVar |
| X | g.30308296G>A | CA10376311 | NR0B1 | c.1068C>T (p.Ser356=) c.183C>T (p.Ser61=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308296G>C | CA515717452 | NR0B1 | c.1068C>G (p.Ser356=) c.183C>G (p.Ser61=) | |
| X | g.30308296G= | CA2422040389 | NR0B1 | c.1068C= (p.Ser356=) c.183C= (p.Ser61=) | |
| X | g.30308296G>T | CA515717451 | NR0B1 | c.1068C>A (p.Ser356=) c.183C>A (p.Ser61=) | |
| X | g.30308297G>A | CA10376312 | NR0B1 | c.1067C>T (p.Ser356Phe) c.182C>T (p.Ser61Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308297G>C | CA412546680 | NR0B1 | c.1067C>G (p.Ser356Cys) c.182C>G (p.Ser61Cys) | |
| X | g.30308297G= | CA2422040390 | NR0B1 | c.1067C= (p.Ser356=) c.182C= (p.Ser61=) | |
| X | g.30308297G>T | CA412546681 | NR0B1 | c.1067C>A (p.Ser356Tyr) c.182C>A (p.Ser61Tyr) | |
| X | g.30308298A>C | CA412546682 | NR0B1 | c.1066T>G (p.Ser356Ala) c.181T>G (p.Ser61Ala) | |
| X | g.30308298A>G | CA412546683 | NR0B1 | c.1066T>C (p.Ser356Pro) c.181T>C (p.Ser61Pro) | |
| X | g.30308298A>T | CA412546684 | NR0B1 | c.1066T>A (p.Ser356Thr) c.181T>A (p.Ser61Thr) | |
| X | g.30308299G>A | CA10376313 | NR0B1 | c.1065C>T (p.Ala355=) c.180C>T (p.Ala60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| X | g.30308299G>C | CA515717453 | NR0B1 | c.1065C>G (p.Ala355=) c.180C>G (p.Ala60=) | |
| X | g.30308299G= | CA2422040391 | NR0B1 | c.1065C= (p.Ala355=) c.180C= (p.Ala60=) | |
| X | g.30308299G>T | CA515717454 | NR0B1 | c.1065C>A (p.Ala355=) c.180C>A (p.Ala60=) | |
| X | g.30308300G>A | CA412546685 | NR0B1 | c.1064C>T (p.Ala355Val) c.179C>T (p.Ala60Val) | |
| X | g.30308300G>C | CA412546686 | NR0B1 | c.1064C>G (p.Ala355Gly) c.179C>G (p.Ala60Gly) | |
| X | g.30308300G>T | CA412546687 | NR0B1 | c.1064C>A (p.Ala355Asp) c.179C>A (p.Ala60Asp) | |
| X | g.30308301C>A | CA412546688 | NR0B1 | c.1063G>T (p.Ala355Ser) c.178G>T (p.Ala60Ser) | |
| X | g.30308301C= | CA2422040392 | NR0B1 | c.1063G= (p.Ala355=) c.178G= (p.Ala60=) | |
| X | g.30308301C>G | CA412546689 | NR0B1 | c.1063G>C (p.Ala355Pro) c.178G>C (p.Ala60Pro) | |
| X | g.30308301C>T | CA10376314 | NR0B1 | c.1063G>A (p.Ala355Thr) c.178G>A (p.Ala60Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308302G>A | CA515717463 | NR0B1 | c.1062C>T (p.Ser354=) c.177C>T (p.Ser59=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| X | g.30308302G>C | CA515717465 | NR0B1 | c.1062C>G (p.Ser354=) c.177C>G (p.Ser59=) | ClinVar |
| X | g.30308302G= | CA2422040393 | NR0B1 | c.1062C= (p.Ser354=) c.177C= (p.Ser59=) | |
| X | g.30308302G>T | CA10376315 | NR0B1 | c.1062C>A (p.Ser354=) c.177C>A (p.Ser59=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| X | g.30308303del | CA2695232166 | NR0B1 | c.1062del (p.Ala355ProfsTer17) c.177del (p.Ala60ProfsTer17) | |
| X | g.30308303G>A | CA412546690 | NR0B1 | c.1061C>T (p.Ser354Phe) c.176C>T (p.Ser59Phe) | |
| X | g.30308303G>C | CA412546691 | NR0B1 | c.1061C>G (p.Ser354Cys) c.176C>G (p.Ser59Cys) | gnomAD v4 |
| X | g.30308303G>T | CA412546692 | NR0B1 | c.1061C>A (p.Ser354Tyr) c.176C>A (p.Ser59Tyr) | |
| X | g.30308304A>C | CA412546695 | NR0B1 | c.1060T>G (p.Ser354Ala) c.175T>G (p.Ser59Ala) | |
| X | g.30308304A>G | CA412546694 | NR0B1 | c.1060T>C (p.Ser354Pro) c.175T>C (p.Ser59Pro) | |
| X | g.30308304A>T | CA412546693 | NR0B1 | c.1060T>A (p.Ser354Thr) c.175T>A (p.Ser59Thr) | |
| X | g.30308305G>A | CA515945850 | NR0B1 | c.1059C>T (p.Pro353=) c.174C>T (p.Pro58=) | gnomAD v4 |
| X | g.30308305G>C | CA515945852 | NR0B1 | c.1059C>G (p.Pro353=) c.174C>G (p.Pro58=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308305G= | CA2422040394 | NR0B1 | c.1059C= (p.Pro353=) c.174C= (p.Pro58=) | |
| X | g.30308305G>T | CA515945853 | NR0B1 | c.1059C>A (p.Pro353=) c.174C>A (p.Pro58=) | |
| X | g.30308306_30308307del | CA2695232167 | NR0B1 | c.1058_1059del (p.Pro353LeufsTer?) c.173_174del (p.Pro58LeufsTer?) | |
| X | g.30308306G>A | CA412546696 | NR0B1 | c.1058C>T (p.Pro353Leu) c.173C>T (p.Pro58Leu) | |
| X | g.30308306G>C | CA412546697 | NR0B1 | c.1058C>G (p.Pro353Arg) c.173C>G (p.Pro58Arg) | |
| X | g.30308306G>T | CA412546698 | NR0B1 | c.1058C>A (p.Pro353His) c.173C>A (p.Pro58His) | gnomAD v4 |
| X | g.30308307G>A | CA412546700 | NR0B1 | c.1057C>T (p.Pro353Ser) c.172C>T (p.Pro58Ser) | gnomAD v4 |
| X | g.30308307G>C | CA412546701 | NR0B1 | c.1057C>G (p.Pro353Ala) c.172C>G (p.Pro58Ala) | |
| X | g.30308307G>T | CA412546702 | NR0B1 | c.1057C>A (p.Pro353Thr) c.172C>A (p.Pro58Thr) | |
| X | g.30308308C>A | CA515945859 | NR0B1 | c.1056G>T (p.Val352=) c.171G>T (p.Val57=) | |
| X | g.30308308C>G | CA515945861 | NR0B1 | c.1056G>C (p.Val352=) c.171G>C (p.Val57=) | |
| X | g.30308308C>T | CA515945863 | NR0B1 | c.1056G>A (p.Val352=) c.171G>A (p.Val57=) | gnomAD v4 |
| X | g.30308309A>C | CA412546703 | NR0B1 | c.1055T>G (p.Val352Gly) c.170T>G (p.Val57Gly) | |
| X | g.30308309A>G | CA412546704 | NR0B1 | c.1055T>C (p.Val352Ala) c.170T>C (p.Val57Ala) | |
| X | g.30308309A>T | CA412546705 | NR0B1 | c.1055T>A (p.Val352Glu) c.170T>A (p.Val57Glu) | |
| X | g.30308310C>A | CA412546706 | NR0B1 | c.1054G>T (p.Val352Leu) c.169G>T (p.Val57Leu) | |
| X | g.30308310C>G | CA412546713 | NR0B1 | c.1054G>C (p.Val352Leu) c.169G>C (p.Val57Leu) | |
| X | g.30308310C>T | CA412546716 | NR0B1 | c.1054G>A (p.Val352Met) c.169G>A (p.Val57Met) | |
| X | g.30308311C>A | CA412546718 | NR0B1 | c.1053G>T (p.Lys351Asn) c.168G>T (p.Lys56Asn) | |
| X | g.30308311C>G | CA412546719 | NR0B1 | c.1053G>C (p.Lys351Asn) c.168G>C (p.Lys56Asn) | |
| X | g.30308311C>T | CA515945871 | NR0B1 | c.1053G>A (p.Lys351=) c.168G>A (p.Lys56=) | gnomAD v4 |
| X | g.30308312T>A | CA412546724 | NR0B1 | c.1052A>T (p.Lys351Met) c.167A>T (p.Lys56Met) | |
| X | g.30308312T>C | CA412546726 | NR0B1 | c.1052A>G (p.Lys351Arg) c.167A>G (p.Lys56Arg) | |
| X | g.30308312T>G | CA412546722 | NR0B1 | c.1052A>C (p.Lys351Thr) c.167A>C (p.Lys56Thr) | |
| X | g.30308313T>A | CA412546728 | NR0B1 | c.1051A>T (p.Lys351Ter) c.166A>T (p.Lys56Ter) | |
| X | g.30308313T>C | CA412546730 | NR0B1 | c.1051A>G (p.Lys351Glu) c.166A>G (p.Lys56Glu) | |
| X | g.30308313T>G | CA412546731 | NR0B1 | c.1051A>C (p.Lys351Gln) c.166A>C (p.Lys56Gln) | |
| X | g.30308314C>A | CA412546733 | NR0B1 | c.1050G>T (p.Arg350Ser) c.165G>T (p.Arg55Ser) | |
| X | g.30308314C= | CA2422040395 | NR0B1 | c.1050G= (p.Arg350=) c.165G= (p.Arg55=) | |
| X | g.30308314C>G | CA412546735 | NR0B1 | c.1050G>C (p.Arg350Ser) c.165G>C (p.Arg55Ser) | |
| X | g.30308314C>T | CA515945876 | NR0B1 | c.1050G>A (p.Arg350=) c.165G>A (p.Arg55=) | dbSNP |
| X | g.30308315C>A | CA412546737 | NR0B1 | c.1049G>T (p.Arg350Met) c.164G>T (p.Arg55Met) | |
| X | g.30308315C>G | CA412546740 | NR0B1 | c.1049G>C (p.Arg350Thr) c.164G>C (p.Arg55Thr) | |
| X | g.30308315C>T | CA412546741 | NR0B1 | c.1049G>A (p.Arg350Lys) c.164G>A (p.Arg55Lys) | |
| X | g.30308315_30308316del | CA2548635674 | NR0B1 | c.1048_1049del (p.Arg350GlufsTer?) c.163_164del (p.Arg55GlufsTer?) | |
| X | g.30308316T>A | CA412546743 | NR0B1 | c.1048A>T (p.Arg350Trp) c.163A>T (p.Arg55Trp) | |
| X | g.30308316T>C | CA412546745 | NR0B1 | c.1048A>G (p.Arg350Gly) c.163A>G (p.Arg55Gly) | |
| X | g.30308316T>G | CA515945878 | NR0B1 | c.1048A>C (p.Arg350=) c.163A>C (p.Arg55=) | |
| X | g.30308317G>A | CA515945882 | NR0B1 | c.1047C>T (p.Ala349=) c.162C>T (p.Ala54=) | gnomAD v4 |
| X | g.30308317G>C | CA515945881 | NR0B1 | c.1047C>G (p.Ala349=) c.162C>G (p.Ala54=) | |
| X | g.30308317G>T | CA515945880 | NR0B1 | c.1047C>A (p.Ala349=) c.162C>A (p.Ala54=) | COSMIC COSMIC |
| X | g.30308319_30308331del | CA2695232168 | NR0B1 | c.1035_1047del (p.Pro346GlyfsTer22) c.150_162del (p.Pro51GlyfsTer22) | |
| X | g.30308318G>A | CA412546748 | NR0B1 | c.1046C>T (p.Ala349Val) c.161C>T (p.Ala54Val) | dbSNP gnomAD v4 |
| X | g.30308318G>C | CA412546750 | NR0B1 | c.1046C>G (p.Ala349Gly) c.161C>G (p.Ala54Gly) | |
| X | g.30308318G= | CA2422040396 | NR0B1 | c.1046C= (p.Ala349=) c.161C= (p.Ala54=) | |
| X | g.30308318G>T | CA412546751 | NR0B1 | c.1046C>A (p.Ala349Asp) c.161C>A (p.Ala54Asp) | |
| X | g.30308319C>A | CA412546757 | NR0B1 | c.1045G>T (p.Ala349Ser) c.160G>T (p.Ala54Ser) | gnomAD v4 |
| X | g.30308319C>G | CA412546754 | NR0B1 | c.1045G>C (p.Ala349Pro) c.160G>C (p.Ala54Pro) | |
| X | g.30308319C>T | CA412546756 | NR0B1 | c.1045G>A (p.Ala349Thr) c.160G>A (p.Ala54Thr) | |
| X | g.30308320C>A | CA412546759 | NR0B1 | c.1044G>T (p.Glu348Asp) c.159G>T (p.Glu53Asp) | dbSNP |
| X | g.30308320C= | CA2422040397 | NR0B1 | c.1044G= (p.Glu348=) c.159G= (p.Glu53=) | |
| X | g.30308320C>G | CA412546768 | NR0B1 | c.1044G>C (p.Glu348Asp) c.159G>C (p.Glu53Asp) | |
| X | g.30308320C>T | CA515945887 | NR0B1 | c.1044G>A (p.Glu348=) c.159G>A (p.Glu53=) | gnomAD v4 |
| X | g.30308321T>A | CA412546771 | NR0B1 | c.1043A>T (p.Glu348Val) c.158A>T (p.Glu53Val) | |
| X | g.30308321T>C | CA412546773 | NR0B1 | c.1043A>G (p.Glu348Gly) c.158A>G (p.Glu53Gly) | |
| X | g.30308321T>G | CA412546774 | NR0B1 | c.1043A>C (p.Glu348Ala) c.158A>C (p.Glu53Ala) | |
| X | g.30308321_30308322delinsTC | CA2422040398 | NR0B1 | c.1042_1043delinsGA (p.Glu348=) c.157_158delinsGA (p.Glu53=) | |
| X | g.30308322C>A | CA412546780 | NR0B1 | c.1042G>T (p.Glu348Ter) c.157G>T (p.Glu53Ter) | |
| X | g.30308322C>G | CA412546782 | NR0B1 | c.1042G>C (p.Glu348Gln) c.157G>C (p.Glu53Gln) | |
| X | g.30308322C>T | CA412546784 | NR0B1 | c.1042G>A (p.Glu348Lys) c.157G>A (p.Glu53Lys) | |
| X | g.30308323del | CA916083874 | NR0B1 | c.1042del (p.Glu348ArgfsTer24) c.157del (p.Glu53ArgfsTer24) | ClinVar dbSNP |
| X | g.30308323C>A | CA515945893 | NR0B1 | c.1041G>T (p.Ala347=) c.156G>T (p.Ala52=) | |
| X | g.30308323C>G | CA515945896 | NR0B1 | c.1041G>C (p.Ala347=) c.156G>C (p.Ala52=) | |
| X | g.30308323C>T | CA515945895 | NR0B1 | c.1041G>A (p.Ala347=) c.156G>A (p.Ala52=) | |
| X | g.30308324G>A | CA412546787 | NR0B1 | c.1040C>T (p.Ala347Val) c.155C>T (p.Ala52Val) | |
| X | g.30308324G>C | CA327975849 | NR0B1 | c.1040C>G (p.Ala347Gly) c.155C>G (p.Ala52Gly) | dbSNP |
| X | g.30308324G= | CA2422040399 | NR0B1 | c.1040C= (p.Ala347=) c.155C= (p.Ala52=) | |
| X | g.30308324G>T | CA10376316 | NR0B1 | c.1040C>A (p.Ala347Glu) c.155C>A (p.Ala52Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308325C>A | CA412546790 | NR0B1 | c.1039G>T (p.Ala347Ser) c.154G>T (p.Ala52Ser) | |
| X | g.30308325C= | CA2422040400 | NR0B1 | c.1039G= (p.Ala347=) c.154G= (p.Ala52=) | |
| X | g.30308325C>G | CA412546793 | NR0B1 | c.1039G>C (p.Ala347Pro) c.154G>C (p.Ala52Pro) | dbSNP |
| X | g.30308325C>T | CA412546792 | NR0B1 | c.1039G>A (p.Ala347Thr) c.154G>A (p.Ala52Thr) | |
| X | g.30308326C>A | CA515945902 | NR0B1 | c.1038G>T (p.Pro346=) c.153G>T (p.Pro51=) | gnomAD v4 |
| X | g.30308326C= | CA2422040401 | NR0B1 | c.1038G= (p.Pro346=) c.153G= (p.Pro51=) | |
| X | g.30308326C>G | CA515945904 | NR0B1 | c.1038G>C (p.Pro346=) c.153G>C (p.Pro51=) | |
| X | g.30308326C>T | CA515945905 | NR0B1 | c.1038G>A (p.Pro346=) c.153G>A (p.Pro51=) | dbSNP |
| X | g.30308327G>A | CA412546796 | NR0B1 | c.1037C>T (p.Pro346Leu) c.152C>T (p.Pro51Leu) | dbSNP |
| X | g.30308327G>C | CA412546800 | NR0B1 | c.1037C>G (p.Pro346Arg) c.152C>G (p.Pro51Arg) | |
| X | g.30308327G= | CA2422040402 | NR0B1 | c.1037C= (p.Pro346=) c.152C= (p.Pro51=) | |
| X | g.30308327G>T | CA412546797 | NR0B1 | c.1037C>A (p.Pro346Gln) c.152C>A (p.Pro51Gln) | |
| X | g.30308328G>A | CA412546802 | NR0B1 | c.1036C>T (p.Pro346Ser) c.151C>T (p.Pro51Ser) | |
| X | g.30308328G>C | CA412546804 | NR0B1 | c.1036C>G (p.Pro346Ala) c.151C>G (p.Pro51Ala) | |
| X | g.30308328G>T | CA412546806 | NR0B1 | c.1036C>A (p.Pro346Thr) c.151C>A (p.Pro51Thr) | |
| X | g.30308329C>A | CA515945909 | NR0B1 | c.1035G>T (p.Pro345=) c.150G>T (p.Pro50=) | |
| X | g.30308329C= | CA2422040403 | NR0B1 | c.1035G= (p.Pro345=) c.150G= (p.Pro50=) | |
| X | g.30308329C>G | CA515945910 | NR0B1 | c.1035G>C (p.Pro345=) c.150G>C (p.Pro50=) | |
| X | g.30308329C>T | CA515945911 | NR0B1 | c.1035G>A (p.Pro345=) c.150G>A (p.Pro50=) | dbSNP COSMIC COSMIC |
| X | g.30308330G>A | CA10376317 | NR0B1 | c.1034C>T (p.Pro345Leu) c.149C>T (p.Pro50Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308330G>C | CA412546809 | NR0B1 | c.1034C>G (p.Pro345Arg) c.149C>G (p.Pro50Arg) | |
| X | g.30308330G= | CA2422040404 | NR0B1 | c.1034C= (p.Pro345=) c.149C= (p.Pro50=) | |
| X | g.30308330G>T | CA412546811 | NR0B1 | c.1034C>A (p.Pro345Gln) c.149C>A (p.Pro50Gln) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308331del | CA2695232169 | NR0B1 | c.1034del (p.Pro345ArgfsTer27) c.149del (p.Pro50ArgfsTer27) | |
| X | g.30308331G>A | CA412546812 | NR0B1 | c.1033C>T (p.Pro345Ser) c.148C>T (p.Pro50Ser) | |
| X | g.30308331G>C | CA412546813 | NR0B1 | c.1033C>G (p.Pro345Ala) c.148C>G (p.Pro50Ala) | |
| X | g.30308331G= | CA2422040405 | NR0B1 | c.1033C= (p.Pro345=) c.148C= (p.Pro50=) | |
| X | g.30308331G>T | CA10376318 | NR0B1 | c.1033C>A (p.Pro345Thr) c.148C>A (p.Pro50Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308332T>A | CA515945916 | NR0B1 | c.1032A>T (p.Ala344=) c.147A>T (p.Ala49=) | |
| X | g.30308332T>C | CA515945917 | NR0B1 | c.1032A>G (p.Ala344=) c.147A>G (p.Ala49=) | |
| X | g.30308332T>G | CA10376319 | NR0B1 | c.1032A>C (p.Ala344=) c.147A>C (p.Ala49=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308332T= | CA2422040406 | NR0B1 | c.1032A= (p.Ala344=) c.147A= (p.Ala49=) | |
| X | g.30308333G>A | CA412546818 | NR0B1 | c.1031C>T (p.Ala344Val) c.146C>T (p.Ala49Val) | |
| X | g.30308333G>C | CA412546820 | NR0B1 | c.1031C>G (p.Ala344Gly) c.146C>G (p.Ala49Gly) | |
| X | g.30308333G>T | CA412546822 | NR0B1 | c.1031C>A (p.Ala344Glu) c.146C>A (p.Ala49Glu) | |
| X | g.30308334C>A | CA412546825 | NR0B1 | c.1030G>T (p.Ala344Ser) c.145G>T (p.Ala49Ser) | |
| X | g.30308334C>G | CA412546829 | NR0B1 | c.1030G>C (p.Ala344Pro) c.145G>C (p.Ala49Pro) | |
| X | g.30308334C>T | CA412546826 | NR0B1 | c.1030G>A (p.Ala344Thr) c.145G>A (p.Ala49Thr) | |
| X | g.30308335C>A | CA412546832 | NR0B1 | c.1029G>T (p.Leu343Phe) c.144G>T (p.Leu48Phe) | |
| X | g.30308335C= | CA2422040407 | NR0B1 | c.1029G= (p.Leu343=) c.144G= (p.Leu48=) | |
| X | g.30308335C>G | CA412546834 | NR0B1 | c.1029G>C (p.Leu343Phe) c.144G>C (p.Leu48Phe) | |
| X | g.30308335C>T | CA10376320 | NR0B1 | c.1029G>A (p.Leu343=) c.144G>A (p.Leu48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308336A>C | CA412546837 | NR0B1 | c.1028T>G (p.Leu343Trp) c.143T>G (p.Leu48Trp) | |
| X | g.30308336A>G | CA412546839 | NR0B1 | c.1028T>C (p.Leu343Ser) c.143T>C (p.Leu48Ser) | |
| X | g.30308336A>T | CA412546840 | NR0B1 | c.1028T>A (p.Leu343Ter) c.143T>A (p.Leu48Ter) | |
| X | g.30308337A>C | CA412546842 | NR0B1 | c.1027T>G (p.Leu343Val) c.142T>G (p.Leu48Val) | |
| X | g.30308337A>G | CA515945922 | NR0B1 | c.1027T>C (p.Leu343=) c.142T>C (p.Leu48=) | |
| X | g.30308337A>T | CA412546848 | NR0B1 | c.1027T>A (p.Leu343Met) c.142T>A (p.Leu48Met) | |
| X | g.30308338A>C | CA412546852 | NR0B1 | c.1026T>G (p.His342Gln) c.141T>G (p.His47Gln) | |
| X | g.30308338A>G | CA515945924 | NR0B1 | c.1026T>C (p.His342=) c.141T>C (p.His47=) | gnomAD v4 COSMIC COSMIC |
| X | g.30308338A>T | CA412546854 | NR0B1 | c.1026T>A (p.His342Gln) c.141T>A (p.His47Gln) | |
| X | g.30308339T>A | CA412546859 | NR0B1 | c.1025A>T (p.His342Leu) c.140A>T (p.His47Leu) | |
| X | g.30308339T>C | CA412546858 | NR0B1 | c.1025A>G (p.His342Arg) c.140A>G (p.His47Arg) | |
| X | g.30308339T>G | CA412546857 | NR0B1 | c.1025A>C (p.His342Pro) c.140A>C (p.His47Pro) | |
| X | g.30308340G>A | CA412546869 | NR0B1 | c.1024C>T (p.His342Tyr) c.139C>T (p.His47Tyr) | |
| X | g.30308340G>C | CA412546863 | NR0B1 | c.1024C>G (p.His342Asp) c.139C>G (p.His47Asp) | |
| X | g.30308340G= | CA2422040408 | NR0B1 | c.1024C= (p.His342=) c.139C= (p.His47=) | |
| X | g.30308340G>T | CA10376321 | NR0B1 | c.1024C>A (p.His342Asn) c.139C>A (p.His47Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308341G>A | CA515945930 | NR0B1 | c.1023C>T (p.His341=) c.138C>T (p.His46=) | ClinVar |
| X | g.30308341G>C | CA412546872 | NR0B1 | c.1023C>G (p.His341Gln) c.138C>G (p.His46Gln) | |
| X | g.30308341G= | CA2422040409 | NR0B1 | c.1023C= (p.His341=) c.138C= (p.His46=) | |
| X | g.30308341G>T | CA412546874 | NR0B1 | c.1023C>A (p.His341Gln) c.138C>A (p.His46Gln) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308342T>A | CA10376322 | NR0B1 | c.1022A>T (p.His341Leu) c.137A>T (p.His46Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308342T>C | CA327975884 | NR0B1 | c.1022A>G (p.His341Arg) c.137A>G (p.His46Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308342T>G | CA412546877 | NR0B1 | c.1022A>C (p.His341Pro) c.137A>C (p.His46Pro) | |
| X | g.30308342T= | CA2422040410 | NR0B1 | c.1022A= (p.His341=) c.137A= (p.His46=) | |
| X | g.30308343G>A | CA412546878 | NR0B1 | c.1021C>T (p.His341Tyr) c.136C>T (p.His46Tyr) | |
| X | g.30308343G>C | CA412546879 | NR0B1 | c.1021C>G (p.His341Asp) c.136C>G (p.His46Asp) | |
| X | g.30308343G>T | CA412546880 | NR0B1 | c.1021C>A (p.His341Asn) c.136C>A (p.His46Asn) | |
| X | g.30308344C>A | CA412546881 | NR0B1 | c.1020G>T (p.Gln340His) c.135G>T (p.Gln45His) | |
| X | g.30308344C= | CA2422040411 | NR0B1 | c.1020G= (p.Gln340=) c.135G= (p.Gln45=) | |
| X | g.30308344C>G | CA412546882 | NR0B1 | c.1020G>C (p.Gln340His) c.135G>C (p.Gln45His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308344C>T | CA515945936 | NR0B1 | c.1020G>A (p.Gln340=) c.135G>A (p.Gln45=) | ClinVar gnomAD v4 |
| X | g.30308345T>A | CA412546886 | NR0B1 | c.1019A>T (p.Gln340Leu) c.134A>T (p.Gln45Leu) | |
| X | g.30308345T>C | CA412546888 | NR0B1 | c.1019A>G (p.Gln340Arg) c.134A>G (p.Gln45Arg) | |
| X | g.30308345T>G | CA412546884 | NR0B1 | c.1019A>C (p.Gln340Pro) c.134A>C (p.Gln45Pro) | |
| X | g.30308346G>A | CA412546890 | NR0B1 | c.1018C>T (p.Gln340Ter) c.133C>T (p.Gln45Ter) | |
| X | g.30308346G>C | CA412546892 | NR0B1 | c.1018C>G (p.Gln340Glu) c.133C>G (p.Gln45Glu) | |
| X | g.30308346G>T | CA412546899 | NR0B1 | c.1018C>A (p.Gln340Lys) c.133C>A (p.Gln45Lys) | |
| X | g.30308347C>A | CA515945940 | NR0B1 | c.1017G>T (p.Leu339=) c.132G>T (p.Leu44=) | |
| X | g.30308347C>G | CA515945942 | NR0B1 | c.1017G>C (p.Leu339=) c.132G>C (p.Leu44=) | |
| X | g.30308347C>T | CA515945944 | NR0B1 | c.1017G>A (p.Leu339=) c.132G>A (p.Leu44=) | |
| X | g.30308348A>C | CA412546902 | NR0B1 | c.1016T>G (p.Leu339Arg) c.131T>G (p.Leu44Arg) | gnomAD v4 |
| X | g.30308348A>G | CA412546903 | NR0B1 | c.1016T>C (p.Leu339Pro) c.131T>C (p.Leu44Pro) | |
| X | g.30308348A>T | CA412546905 | NR0B1 | c.1016T>A (p.Leu339Gln) c.131T>A (p.Leu44Gln) | |
| X | g.30308349G>A | CA515945947 | NR0B1 | c.1015C>T (p.Leu339=) c.130C>T (p.Leu44=) | |
| X | g.30308349G>C | CA412546908 | NR0B1 | c.1015C>G (p.Leu339Val) c.130C>G (p.Leu44Val) | |
| X | g.30308349G>T | CA412546910 | NR0B1 | c.1015C>A (p.Leu339Met) c.130C>A (p.Leu44Met) | |
| X | g.30308350C>A | CA515945948 | NR0B1 | c.1014G>T (p.Thr338=) c.129G>T (p.Thr43=) | gnomAD v3 gnomAD v4 |
| X | g.30308350C= | CA2422040412 | NR0B1 | c.1014G= (p.Thr338=) c.129G= (p.Thr43=) | |
| X | g.30308350C>G | CA515945950 | NR0B1 | c.1014G>C (p.Thr338=) c.129G>C (p.Thr43=) | |
| X | g.30308350C>T | CA515945949 | NR0B1 | c.1014G>A (p.Thr338=) c.129G>A (p.Thr43=) | dbSNP |
| X | g.30308351G>A | CA10376323 | NR0B1 | c.1013C>T (p.Thr338Met) c.128C>T (p.Thr43Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308351G>C | CA412546912 | NR0B1 | c.1013C>G (p.Thr338Arg) c.128C>G (p.Thr43Arg) | |
| X | g.30308351G= | CA2422040413 | NR0B1 | c.1013C= (p.Thr338=) c.128C= (p.Thr43=) | |
| X | g.30308351G>T | CA412546913 | NR0B1 | c.1013C>A (p.Thr338Lys) c.128C>A (p.Thr43Lys) | |
| X | g.30308352T>A | CA412546915 | NR0B1 | c.1012A>T (p.Thr338Ser) c.127A>T (p.Thr43Ser) | |
| X | g.30308352T>C | CA412546917 | NR0B1 | c.1012A>G (p.Thr338Ala) c.127A>G (p.Thr43Ala) | gnomAD v4 |
| X | g.30308352T>G | CA412546919 | NR0B1 | c.1012A>C (p.Thr338Pro) c.127A>C (p.Thr43Pro) | |
| X | g.30308353G>A | CA515945952 | NR0B1 | c.1011C>T (p.Pro337=) c.126C>T (p.Pro42=) | |
| X | g.30308353G>C | CA515945953 | NR0B1 | c.1011C>G (p.Pro337=) c.126C>G (p.Pro42=) | gnomAD v4 |
| X | g.30308353G>T | CA515945954 | NR0B1 | c.1011C>A (p.Pro337=) c.126C>A (p.Pro42=) | |
| X | g.30308355del | CA2695232170 | NR0B1 | c.1011del (p.Thr338ArgfsTer?) c.126del (p.Thr43ArgfsTer?) | |
| X | g.30308354G>A | CA412546923 | NR0B1 | c.1010C>T (p.Pro337Leu) c.125C>T (p.Pro42Leu) | |
| X | g.30308354G>C | CA412546925 | NR0B1 | c.1010C>G (p.Pro337Arg) c.125C>G (p.Pro42Arg) | gnomAD v4 |
| X | g.30308354G>T | CA412546921 | NR0B1 | c.1010C>A (p.Pro337His) c.125C>A (p.Pro42His) | |
| X | g.30308355G>A | CA412546929 | NR0B1 | c.1009C>T (p.Pro337Ser) c.124C>T (p.Pro42Ser) | |
| X | g.30308355G>C | CA412546933 | NR0B1 | c.1009C>G (p.Pro337Ala) c.124C>G (p.Pro42Ala) | |
| X | g.30308355G>T | CA412546930 | NR0B1 | c.1009C>A (p.Pro337Thr) c.124C>A (p.Pro42Thr) | |
| X | g.30308356C>A | CA515945958 | NR0B1 | c.1008G>T (p.Val336=) c.123G>T (p.Val41=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308356C= | CA2422040414 | NR0B1 | c.1008G= (p.Val336=) c.123G= (p.Val41=) | |
| X | g.30308356C>G | CA515945960 | NR0B1 | c.1008G>C (p.Val336=) c.123G>C (p.Val41=) | |
| X | g.30308356C>T | CA515945959 | NR0B1 | c.1008G>A (p.Val336=) c.123G>A (p.Val41=) | gnomAD v4 |
| X | g.30308357A= | CA2422040415 | NR0B1 | c.1007T= (p.Val336=) c.122T= (p.Val41=) | |
| X | g.30308357A>C | CA412546935 | NR0B1 | c.1007T>G (p.Val336Gly) c.122T>G (p.Val41Gly) | |
| X | g.30308357A>G | CA412546937 | NR0B1 | c.1007T>C (p.Val336Ala) c.122T>C (p.Val41Ala) | |
| X | g.30308357A>T | CA412546939 | NR0B1 | c.1007T>A (p.Val336Glu) c.122T>A (p.Val41Glu) | |
| X | g.30308358C>A | CA412546941 | NR0B1 | c.1006G>T (p.Val336Leu) c.121G>T (p.Val41Leu) | |
| X | g.30308358C>G | CA412546943 | NR0B1 | c.1006G>C (p.Val336Leu) c.121G>C (p.Val41Leu) | |
| X | g.30308358C>T | CA412546944 | NR0B1 | c.1006G>A (p.Val336Met) c.121G>A (p.Val41Met) | |
| X | g.30308358dup | CA1139667337 | NR0B1 | c.1006dup (p.Val336GlyfsTer?) c.121dup (p.Val41GlyfsTer?) | ClinVar dbSNP |
| X | g.30308359G>A | CA515945966 | NR0B1 | c.1005C>T (p.Pro335=) c.120C>T (p.Pro40=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.30308359G>C | CA515945967 | NR0B1 | c.1005C>G (p.Pro335=) c.120C>G (p.Pro40=) | |
| X | g.30308359G= | CA2422040416 | NR0B1 | c.1005C= (p.Pro335=) c.120C= (p.Pro40=) | |
| X | g.30308359G>T | CA515945970 | NR0B1 | c.1005C>A (p.Pro335=) c.120C>A (p.Pro40=) | gnomAD v4 |
| X | g.30308361del | CA2739290472 | NR0B1 | c.1005del (p.Val336CysfsTer?) c.120del (p.Val41CysfsTer?) | |
| X | g.30308360G>A | CA412546946 | NR0B1 | c.1004C>T (p.Pro335Leu) c.119C>T (p.Pro40Leu) | gnomAD v4 |
| X | g.30308360G>C | CA412546948 | NR0B1 | c.1004C>G (p.Pro335Arg) c.119C>G (p.Pro40Arg) | |
| X | g.30308360G= | CA2422040417 | NR0B1 | c.1004C= (p.Pro335=) c.119C= (p.Pro40=) | |
| X | g.30308360G>T | CA10376324 | NR0B1 | c.1004C>A (p.Pro335His) c.119C>A (p.Pro40His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308361G>A | CA412546952 | NR0B1 | c.1003C>T (p.Pro335Ser) c.118C>T (p.Pro40Ser) | dbSNP gnomAD v2 |
| X | g.30308361G>C | CA412546955 | NR0B1 | c.1003C>G (p.Pro335Ala) c.118C>G (p.Pro40Ala) | |
| X | g.30308361G= | CA2422040418 | NR0B1 | c.1003C= (p.Pro335=) c.118C= (p.Pro40=) | |
| X | g.30308361G>T | CA412546957 | NR0B1 | c.1003C>A (p.Pro335Thr) c.118C>A (p.Pro40Thr) | |
| X | g.30308362C>A | CA515945973 | NR0B1 | c.1002G>T (p.Leu334=) c.117G>T (p.Leu39=) | |
| X | g.30308362C= | CA2422040419 | NR0B1 | c.1002G= (p.Leu334=) c.117G= (p.Leu39=) | |
| X | g.30308362C>G | CA515945975 | NR0B1 | c.1002G>C (p.Leu334=) c.117G>C (p.Leu39=) | |
| X | g.30308362C>T | CA515945976 | NR0B1 | c.1002G>A (p.Leu334=) c.117G>A (p.Leu39=) | |
| X | g.30308363A>C | CA412546963 | NR0B1 | c.1001T>G (p.Leu334Arg) c.116T>G (p.Leu39Arg) | |
| X | g.30308363A>G | CA412546959 | NR0B1 | c.1001T>C (p.Leu334Pro) c.116T>C (p.Leu39Pro) | |
| X | g.30308363A>T | CA412546961 | NR0B1 | c.1001T>A (p.Leu334Gln) c.116T>A (p.Leu39Gln) | |
| X | g.30308363_30308366dup | CA1139667338 | NR0B1 | c.998_1001dup (p.Pro335ThrfsTer?) c.113_116dup (p.Pro40ThrfsTer?) | ClinVar dbSNP |