Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.30307936_30311263del | CA658653869 | ClinVar | ||
X | g.30308361del | CA2739290472 | NR0B1 | c.1005del (p.Val336CysfsTer?) c.120del (p.Val41CysfsTer?) | |
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 |
X | g.30308364G>A | CA515945978 | NR0B1 | c.1000C>T (p.Leu334=) c.115C>T (p.Leu39=) | |
X | g.30308364G>C | CA412546965 | NR0B1 | c.1000C>G (p.Leu334Val) c.115C>G (p.Leu39Val) | |
X | g.30308364G>T | CA412546967 | NR0B1 | c.1000C>A (p.Leu334Met) c.115C>A (p.Leu39Met) | |
X | g.30308365_30308366dup | CA2695232171 | NR0B1 | c.999_1000dup (p.Leu334HisfsTer?) c.114_115dup (p.Leu39HisfsTer?) | |
X | g.30308365T>A | CA515945983 | NR0B1 | c.999A>T (p.Pro333=) c.114A>T (p.Pro38=) | |
X | g.30308365T>C | CA515945981 | NR0B1 | c.999A>G (p.Pro333=) c.114A>G (p.Pro38=) | |
X | g.30308365T>G | CA515945982 | NR0B1 | c.999A>C (p.Pro333=) c.114A>C (p.Pro38=) | |
X | g.30308366G>A | CA412546970 | NR0B1 | c.998C>T (p.Pro333Leu) c.113C>T (p.Pro38Leu) | |
X | g.30308366G>C | CA412546971 | NR0B1 | c.998C>G (p.Pro333Arg) c.113C>G (p.Pro38Arg) | |
X | g.30308366G>T | CA412546974 | NR0B1 | c.998C>A (p.Pro333Gln) c.113C>A (p.Pro38Gln) | |
X | g.30308367G>A | CA412546976 | NR0B1 | c.997C>T (p.Pro333Ser) c.112C>T (p.Pro38Ser) | |
X | g.30308367G>C | CA412546978 | NR0B1 | c.997C>G (p.Pro333Ala) c.112C>G (p.Pro38Ala) | |
X | g.30308367G>T | CA412546979 | NR0B1 | c.997C>A (p.Pro333Thr) c.112C>A (p.Pro38Thr) | |
X | g.30308368C>A | CA412546980 | NR0B1 | c.996G>T (p.Glu332Asp) c.111G>T (p.Glu37Asp) | COSMIC COSMIC |
X | g.30308368C= | CA2422040420 | NR0B1 | c.996G= (p.Glu332=) c.111G= (p.Glu37=) | |
X | g.30308368C>G | CA412546982 | NR0B1 | c.996G>C (p.Glu332Asp) c.111G>C (p.Glu37Asp) | |
X | g.30308368C>T | CA515945993 | NR0B1 | c.996G>A (p.Glu332=) c.111G>A (p.Glu37=) | dbSNP gnomAD v4 |
X | g.30308369T>A | CA412546988 | NR0B1 | c.995A>T (p.Glu332Val) c.110A>T (p.Glu37Val) | |
X | g.30308369T>C | CA412546986 | NR0B1 | c.995A>G (p.Glu332Gly) c.110A>G (p.Glu37Gly) | |
X | g.30308369T>G | CA412546984 | NR0B1 | c.995A>C (p.Glu332Ala) c.110A>C (p.Glu37Ala) | |
X | g.30308370C>A | CA412546990 | NR0B1 | c.994G>T (p.Glu332Ter) c.109G>T (p.Glu37Ter) | |
X | g.30308370C= | CA2422040421 | NR0B1 | c.994G= (p.Glu332=) c.109G= (p.Glu37=) | |
X | g.30308370C>G | CA10376325 | NR0B1 | c.994G>C (p.Glu332Gln) c.109G>C (p.Glu37Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308370C>T | CA412546993 | NR0B1 | c.994G>A (p.Glu332Lys) c.109G>A (p.Glu37Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
X | g.30308371del | CA2695232172 | NR0B1 | c.993del (p.Asn331LysfsTer?) c.108del (p.Asn36LysfsTer?) | |
X | g.30308371G>A | CA10376326 | NR0B1 | c.993C>T (p.Asn331=) c.108C>T (p.Asn36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308371G>C | CA412546997 | NR0B1 | c.993C>G (p.Asn331Lys) c.108C>G (p.Asn36Lys) | gnomAD v4 |
X | g.30308371G= | CA2422040422 | NR0B1 | c.993C= (p.Asn331=) c.108C= (p.Asn36=) | |
X | g.30308371G>T | CA412546999 | NR0B1 | c.993C>A (p.Asn331Lys) c.108C>A (p.Asn36Lys) | |
X | g.30308372T>A | CA412547002 | NR0B1 | c.992A>T (p.Asn331Ile) c.107A>T (p.Asn36Ile) | |
X | g.30308372T>C | CA412547004 | NR0B1 | c.992A>G (p.Asn331Ser) c.107A>G (p.Asn36Ser) | |
X | g.30308372T>G | CA412547006 | NR0B1 | c.992A>C (p.Asn331Thr) c.107A>C (p.Asn36Thr) | |
X | g.30308373T>A | CA412547008 | NR0B1 | c.991A>T (p.Asn331Tyr) c.106A>T (p.Asn36Tyr) | |
X | g.30308373T>C | CA412547010 | NR0B1 | c.991A>G (p.Asn331Asp) c.106A>G (p.Asn36Asp) | |
X | g.30308373T>G | CA412547012 | NR0B1 | c.991A>C (p.Asn331His) c.106A>C (p.Asn36His) | |
X | g.30308374G>A | CA515946007 | NR0B1 | c.990C>T (p.Gly330=) c.105C>T (p.Gly35=) | |
X | g.30308374G>C | CA515946009 | NR0B1 | c.990C>G (p.Gly330=) c.105C>G (p.Gly35=) | |
X | g.30308374G>T | CA515946010 | NR0B1 | c.990C>A (p.Gly330=) c.105C>A (p.Gly35=) | |
X | g.30308374_30308375delinsGC | CA2422040423 | NR0B1 | c.989_990delinsGC (p.Gly330=) c.104_105delinsGC (p.Gly35=) | |
X | g.30308375C>A | CA412547016 | NR0B1 | c.989G>T (p.Gly330Val) c.104G>T (p.Gly35Val) | |
X | g.30308375C= | CA2422040424 | NR0B1 | c.989G= (p.Gly330=) c.104G= (p.Gly35=) | |
X | g.30308375C>G | CA412547015 | NR0B1 | c.989G>C (p.Gly330Ala) c.104G>C (p.Gly35Ala) | |
X | g.30308375C>T | CA412547014 | NR0B1 | c.989G>A (p.Gly330Asp) c.104G>A (p.Gly35Asp) | ClinVar dbSNP gnomAD v4 |
X | g.30308379dup | CA2695232173 | NR0B1 | c.989dup (p.Asn331GlnfsTer?) c.104dup (p.Asn36GlnfsTer?) | |
X | g.30308379del | CA874616083 | NR0B1 | c.989del (p.Gly330AlafsTer?) c.104del (p.Gly35AlafsTer?) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308376C>A | CA412547018 | NR0B1 | c.988G>T (p.Gly330Cys) c.103G>T (p.Gly35Cys) | |
X | g.30308376C>G | CA412547020 | NR0B1 | c.988G>C (p.Gly330Arg) c.103G>C (p.Gly35Arg) | |
X | g.30308376C>T | CA412547022 | NR0B1 | c.988G>A (p.Gly330Ser) c.103G>A (p.Gly35Ser) | gnomAD v4 |
X | g.30308376_30308378delinsCCC | CA2422040425 | NR0B1 | c.986_988delinsGGG (p.Gly329=) c.101_103delinsGGG (p.Gly34=) | |
X | g.30308377C>A | CA515946016 | NR0B1 | c.987G>T (p.Gly329=) c.102G>T (p.Gly34=) | |
X | g.30308377C>G | CA515946018 | NR0B1 | c.987G>C (p.Gly329=) c.102G>C (p.Gly34=) | gnomAD v4 |
X | g.30308377C>T | CA515946019 | NR0B1 | c.987G>A (p.Gly329=) c.102G>A (p.Gly34=) | gnomAD v3 gnomAD v4 |
X | g.30308377_30308378delinsT | CA1139667339 | NR0B1 | c.986_987delinsA (p.Gly329GlufsTer?) c.101_102delinsA (p.Gly34GlufsTer?) | ClinVar dbSNP |
X | g.30308378C>A | CA412547025 | NR0B1 | c.986G>T (p.Gly329Val) c.101G>T (p.Gly34Val) | |
X | g.30308378C= | CA2422040426 | NR0B1 | c.986G= (p.Gly329=) c.101G= (p.Gly34=) | |
X | g.30308378C>G | CA412547027 | NR0B1 | c.986G>C (p.Gly329Ala) c.101G>C (p.Gly34Ala) | |
X | g.30308378C>T | CA412547029 | NR0B1 | c.986G>A (p.Gly329Glu) c.101G>A (p.Gly34Glu) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308379C>A | CA412547031 | NR0B1 | c.985G>T (p.Gly329Trp) c.100G>T (p.Gly34Trp) | gnomAD v4 |
X | g.30308379C= | CA2422040427 | NR0B1 | c.985G= (p.Gly329=) c.100G= (p.Gly34=) | |
X | g.30308379C>G | CA412547032 | NR0B1 | c.985G>C (p.Gly329Arg) c.100G>C (p.Gly34Arg) | |
X | g.30308379C>T | CA10376327 | NR0B1 | c.985G>A (p.Gly329Arg) c.100G>A (p.Gly34Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308380G>A | CA515946028 | NR0B1 | c.984C>T (p.Thr328=) c.99C>T (p.Thr33=) | gnomAD v4 |
X | g.30308380G>C | CA10376328 | NR0B1 | c.984C>G (p.Thr328=) c.99C>G (p.Thr33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308380G= | CA2422040428 | NR0B1 | c.984C= (p.Thr328=) c.99C= (p.Thr33=) | |
X | g.30308380G>T | CA515946034 | NR0B1 | c.984C>A (p.Thr328=) c.99C>A (p.Thr33=) | |
X | g.30308381G>A | CA412547037 | NR0B1 | c.983C>T (p.Thr328Ile) c.98C>T (p.Thr33Ile) | |
X | g.30308381G>C | CA412547039 | NR0B1 | c.983C>G (p.Thr328Ser) c.98C>G (p.Thr33Ser) | |
X | g.30308381G= | CA2422040429 | NR0B1 | c.983C= (p.Thr328=) c.98C= (p.Thr33=) | |
X | g.30308381G>T | CA412547041 | NR0B1 | c.983C>A (p.Thr328Asn) c.98C>A (p.Thr33Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308382T>A | CA412547048 | NR0B1 | c.982A>T (p.Thr328Ser) c.97A>T (p.Thr33Ser) | |
X | g.30308382T>C | CA412547046 | NR0B1 | c.982A>G (p.Thr328Ala) c.97A>G (p.Thr33Ala) | |
X | g.30308382T>G | CA412547044 | NR0B1 | c.982A>C (p.Thr328Pro) c.97A>C (p.Thr33Pro) | |
X | g.30308383C>A | CA412547051 | NR0B1 | c.981G>T (p.Glu327Asp) c.96G>T (p.Glu32Asp) | |
X | g.30308383C= | CA2422040430 | NR0B1 | c.981G= (p.Glu327=) c.96G= (p.Glu32=) | |
X | g.30308383C>G | CA10376329 | NR0B1 | c.981G>C (p.Glu327Asp) c.96G>C (p.Glu32Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308383C>T | CA515946039 | NR0B1 | c.981G>A (p.Glu327=) c.96G>A (p.Glu32=) | |
X | g.30308384T>A | CA412547055 | NR0B1 | c.980A>T (p.Glu327Val) c.95A>T (p.Glu32Val) | |
X | g.30308384T>C | CA412547059 | NR0B1 | c.980A>G (p.Glu327Gly) c.95A>G (p.Glu32Gly) | |
X | g.30308384T>G | CA412547057 | NR0B1 | c.980A>C (p.Glu327Ala) c.95A>C (p.Glu32Ala) | |
X | g.30308385C>A | CA412547061 | NR0B1 | c.979G>T (p.Glu327Ter) c.94G>T (p.Glu32Ter) | COSMIC COSMIC |
X | g.30308385C= | CA2422040431 | NR0B1 | c.979G= (p.Glu327=) c.94G= (p.Glu32=) | |
X | g.30308385C>G | CA412547064 | NR0B1 | c.979G>C (p.Glu327Gln) c.94G>C (p.Glu32Gln) | |
X | g.30308385C>T | CA10376330 | NR0B1 | c.979G>A (p.Glu327Lys) c.94G>A (p.Glu32Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308386C>A | CA515946046 | NR0B1 | c.978G>T (p.Arg326=) c.93G>T (p.Arg31=) | |
X | g.30308386C>G | CA515946044 | NR0B1 | c.978G>C (p.Arg326=) c.93G>C (p.Arg31=) | |
X | g.30308386C>T | CA515946045 | NR0B1 | c.978G>A (p.Arg326=) c.93G>A (p.Arg31=) | |
X | g.30308387C>A | CA412547067 | NR0B1 | c.977G>T (p.Arg326Leu) c.92G>T (p.Arg31Leu) | dbSNP |
X | g.30308387C= | CA2422040432 | NR0B1 | c.977G= (p.Arg326=) c.92G= (p.Arg31=) | |
X | g.30308387C>G | CA412547071 | NR0B1 | c.977G>C (p.Arg326Pro) c.92G>C (p.Arg31Pro) | |
X | g.30308387C>T | CA412547069 | NR0B1 | c.977G>A (p.Arg326Gln) c.92G>A (p.Arg31Gln) | dbSNP gnomAD v2 |
X | g.30308388G>A | CA412547074 | NR0B1 | c.976C>T (p.Arg326Trp) c.91C>T (p.Arg31Trp) | |
X | g.30308388G>C | CA412547076 | NR0B1 | c.976C>G (p.Arg326Gly) c.91C>G (p.Arg31Gly) | |
X | g.30308388G>T | CA515946056 | NR0B1 | c.976C>A (p.Arg326=) c.91C>A (p.Arg31=) | |
X | g.30308389C>A | CA515946060 | NR0B1 | c.975G>T (p.Arg325=) c.90G>T (p.Arg30=) | |
X | g.30308389C= | CA2422040433 | NR0B1 | c.975G= (p.Arg325=) c.90G= (p.Arg30=) | |
X | g.30308389C>G | CA515946061 | NR0B1 | c.975G>C (p.Arg325=) c.90G>C (p.Arg30=) | |
X | g.30308389C>T | CA515946062 | NR0B1 | c.975G>A (p.Arg325=) c.90G>A (p.Arg30=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308390C>A | CA412547078 | NR0B1 | c.974G>T (p.Arg325Leu) c.89G>T (p.Arg30Leu) | |
X | g.30308390C>G | CA412547079 | NR0B1 | c.974G>C (p.Arg325Pro) c.89G>C (p.Arg30Pro) | |
X | g.30308390C>T | CA412547082 | NR0B1 | c.974G>A (p.Arg325Gln) c.89G>A (p.Arg30Gln) | |
X | g.30308391del | CA2695232174 | NR0B1 | c.973del (p.Arg325GlyfsTer?) c.88del (p.Arg30GlyfsTer?) | |
X | g.30308391G>A | CA10376331 | NR0B1 | c.973C>T (p.Arg325Trp) c.88C>T (p.Arg30Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308391G>C | CA412547085 | NR0B1 | c.973C>G (p.Arg325Gly) c.88C>G (p.Arg30Gly) | dbSNP |
X | g.30308391G= | CA2422040434 | NR0B1 | c.973C= (p.Arg325=) c.88C= (p.Arg30=) | |
X | g.30308391G>T | CA515946064 | NR0B1 | c.973C>A (p.Arg325=) c.88C>A (p.Arg30=) | |
X | g.30308392C>A | CA412547088 | NR0B1 | c.972G>T (p.Arg324Ser) c.87G>T (p.Arg29Ser) | |
X | g.30308392C>G | CA412547089 | NR0B1 | c.972G>C (p.Arg324Ser) c.87G>C (p.Arg29Ser) | |
X | g.30308392C>T | CA515946068 | NR0B1 | c.972G>A (p.Arg324=) c.87G>A (p.Arg29=) | |
X | g.30308393C>A | CA412547091 | NR0B1 | c.971G>T (p.Arg324Met) c.86G>T (p.Arg29Met) | |
X | g.30308393C>G | CA412547092 | NR0B1 | c.971G>C (p.Arg324Thr) c.86G>C (p.Arg29Thr) | |
X | g.30308393C>T | CA412547094 | NR0B1 | c.971G>A (p.Arg324Lys) c.86G>A (p.Arg29Lys) | |
X | g.30308394T>A | CA412547096 | NR0B1 | c.970A>T (p.Arg324Trp) c.85A>T (p.Arg29Trp) | |
X | g.30308394T>C | CA412547098 | NR0B1 | c.970A>G (p.Arg324Gly) c.85A>G (p.Arg29Gly) | |
X | g.30308394T>G | CA515946070 | NR0B1 | c.970A>C (p.Arg324=) c.85A>C (p.Arg29=) | |
X | g.30308399_30308401del | CA2693386443 | NR0B1 | c.968_970del (p.Thr323del) c.83_85del (p.Thr28del) | gnomAD v4 |
X | g.30308395G>A | CA10376332 | NR0B1 | c.969C>T (p.Thr323=) c.84C>T (p.Thr28=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308395G>C | CA515946077 | NR0B1 | c.969C>G (p.Thr323=) c.84C>G (p.Thr28=) | |
X | g.30308395G= | CA2422040435 | NR0B1 | c.969C= (p.Thr323=) c.84C= (p.Thr28=) | |
X | g.30308395G>T | CA515946079 | NR0B1 | c.969C>A (p.Thr323=) c.84C>A (p.Thr28=) | ClinVar |
X | g.30308396G>A | CA412547103 | NR0B1 | c.968C>T (p.Thr323Ile) c.83C>T (p.Thr28Ile) | |
X | g.30308396G>C | CA412547104 | NR0B1 | c.968C>G (p.Thr323Ser) c.83C>G (p.Thr28Ser) | |
X | g.30308396G>T | CA412547106 | NR0B1 | c.968C>A (p.Thr323Asn) c.83C>A (p.Thr28Asn) | |
X | g.30308397T>A | CA412547108 | NR0B1 | c.967A>T (p.Thr323Ser) c.82A>T (p.Thr28Ser) | |
X | g.30308397T>C | CA412547110 | NR0B1 | c.967A>G (p.Thr323Ala) c.82A>G (p.Thr28Ala) | |
X | g.30308397T>G | CA412547112 | NR0B1 | c.967A>C (p.Thr323Pro) c.82A>C (p.Thr28Pro) | |
X | g.30308398G>A | CA515946087 | NR0B1 | c.966C>T (p.Thr322=) c.81C>T (p.Thr27=) | ClinVar |
X | g.30308398G>C | CA515946088 | NR0B1 | c.966C>G (p.Thr322=) c.81C>G (p.Thr27=) | |
X | g.30308398G>T | CA515946090 | NR0B1 | c.966C>A (p.Thr322=) c.81C>A (p.Thr27=) | |
X | g.30308399_30308415del | CA2695232175 | NR0B1 | c.950_966del (p.Leu317HisfsTer?) c.65_81del (p.Leu22HisfsTer?) | |
X | g.30308399G>A | CA412547115 | NR0B1 | c.965C>T (p.Thr322Ile) c.80C>T (p.Thr27Ile) | |
X | g.30308399G>C | CA10376333 | NR0B1 | c.965C>G (p.Thr322Ser) c.80C>G (p.Thr27Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308399G= | CA2422040436 | NR0B1 | c.965C= (p.Thr322=) c.80C= (p.Thr27=) | |
X | g.30308399G>T | CA412547117 | NR0B1 | c.965C>A (p.Thr322Asn) c.80C>A (p.Thr27Asn) | |
X | g.30308400T>A | CA412547124 | NR0B1 | c.964A>T (p.Thr322Ser) c.79A>T (p.Thr27Ser) | |
X | g.30308400T>C | CA412547122 | NR0B1 | c.964A>G (p.Thr322Ala) c.79A>G (p.Thr27Ala) | |
X | g.30308400T>G | CA412547120 | NR0B1 | c.964A>C (p.Thr322Pro) c.79A>C (p.Thr27Pro) | |
X | g.30308401G>A | CA515946098 | NR0B1 | c.963C>T (p.Leu321=) c.78C>T (p.Leu26=) | |
X | g.30308401G>C | CA515946100 | NR0B1 | c.963C>G (p.Leu321=) c.78C>G (p.Leu26=) | |
X | g.30308401G>T | CA515946102 | NR0B1 | c.963C>A (p.Leu321=) c.78C>A (p.Leu26=) | |
X | g.30308402A>C | CA412547126 | NR0B1 | c.962T>G (p.Leu321Arg) c.77T>G (p.Leu26Arg) | |
X | g.30308402A>G | CA412547128 | NR0B1 | c.962T>C (p.Leu321Pro) c.77T>C (p.Leu26Pro) | |
X | g.30308402A>T | CA412547130 | NR0B1 | c.962T>A (p.Leu321His) c.77T>A (p.Leu26His) | |
X | g.30308403G>A | CA412547133 | NR0B1 | c.961C>T (p.Leu321Phe) c.76C>T (p.Leu26Phe) | |
X | g.30308403G>C | CA412547134 | NR0B1 | c.961C>G (p.Leu321Val) c.76C>G (p.Leu26Val) | gnomAD v4 |
X | g.30308403G>T | CA412547136 | NR0B1 | c.961C>A (p.Leu321Ile) c.76C>A (p.Leu26Ile) | |
X | g.30308404G>A | CA515946109 | NR0B1 | c.960C>T (p.Ile320=) c.75C>T (p.Ile25=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308404G>C | CA412547139 | NR0B1 | c.960C>G (p.Ile320Met) c.75C>G (p.Ile25Met) | dbSNP |
X | g.30308404G= | CA2422040437 | NR0B1 | c.960C= (p.Ile320=) c.75C= (p.Ile25=) | |
X | g.30308404G>T | CA515946110 | NR0B1 | c.960C>A (p.Ile320=) c.75C>A (p.Ile25=) | |
X | g.30308405A>C | CA412547142 | NR0B1 | c.959T>G (p.Ile320Ser) c.74T>G (p.Ile25Ser) | |
X | g.30308405A>G | CA412547144 | NR0B1 | c.959T>C (p.Ile320Thr) c.74T>C (p.Ile25Thr) | |
X | g.30308405A>T | CA412547146 | NR0B1 | c.959T>A (p.Ile320Asn) c.74T>A (p.Ile25Asn) | |
X | g.30308405dup | CA2695232176 | NR0B1 | c.959dup (p.Leu321ProfsTer?) c.74dup (p.Leu26ProfsTer?) | |
X | g.30308406T>A | CA412547149 | NR0B1 | c.958A>T (p.Ile320Phe) c.73A>T (p.Ile25Phe) | gnomAD v4 |
X | g.30308406T>C | CA412547150 | NR0B1 | c.958A>G (p.Ile320Val) c.73A>G (p.Ile25Val) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308406T>G | CA412547153 | NR0B1 | c.958A>C (p.Ile320Leu) c.73A>C (p.Ile25Leu) | |
X | g.30308406T= | CA2422040438 | NR0B1 | c.958A= (p.Ile320=) c.73A= (p.Ile25=) | |
X | g.30308409_30308411del | CA2579577214 | NR0B1 | c.956_958del (p.Lys319del) c.71_73del (p.Lys24del) | gnomAD v4 |
X | g.30308407C>A | CA412547156 | NR0B1 | c.957G>T (p.Lys319Asn) c.72G>T (p.Lys24Asn) | |
X | g.30308407C= | CA2422040439 | NR0B1 | c.957G= (p.Lys319=) c.72G= (p.Lys24=) | |
X | g.30308407C>G | CA412547157 | NR0B1 | c.957G>C (p.Lys319Asn) c.72G>C (p.Lys24Asn) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308407C>T | CA515946117 | NR0B1 | c.957G>A (p.Lys319=) c.72G>A (p.Lys24=) | |
X | g.30308408T>A | CA412547160 | NR0B1 | c.956A>T (p.Lys319Met) c.71A>T (p.Lys24Met) | |
X | g.30308408T>C | CA412547162 | NR0B1 | c.956A>G (p.Lys319Arg) c.71A>G (p.Lys24Arg) | |
X | g.30308408T>G | CA412547164 | NR0B1 | c.956A>C (p.Lys319Thr) c.71A>C (p.Lys24Thr) | |
X | g.30308409T>A | CA412547167 | NR0B1 | c.955A>T (p.Lys319Ter) c.70A>T (p.Lys24Ter) | |
X | g.30308409T>C | CA412547170 | NR0B1 | c.955A>G (p.Lys319Glu) c.70A>G (p.Lys24Glu) | |
X | g.30308409T>G | CA412547172 | NR0B1 | c.955A>C (p.Lys319Gln) c.70A>C (p.Lys24Gln) | |
X | g.30308410C>A | CA327975915 | NR0B1 | c.954G>T (p.Gln318His) c.69G>T (p.Gln23His) | dbSNP gnomAD v4 |
X | g.30308410C= | CA2422040440 | NR0B1 | c.954G= (p.Gln318=) c.69G= (p.Gln23=) | |
X | g.30308410C>G | CA412547175 | NR0B1 | c.954G>C (p.Gln318His) c.69G>C (p.Gln23His) | |
X | g.30308410C>T | CA515946120 | NR0B1 | c.954G>A (p.Gln318=) c.69G>A (p.Gln23=) | dbSNP COSMIC COSMIC |
X | g.30308410_30308417del | CA2695232177 | NR0B1 | c.947_954del (p.Met316LysfsTer?) c.62_69del (p.Met21LysfsTer?) | |
X | g.30308411T>A | CA412547177 | NR0B1 | c.953A>T (p.Gln318Leu) c.68A>T (p.Gln23Leu) | |
X | g.30308411T>C | CA412547178 | NR0B1 | c.953A>G (p.Gln318Arg) c.68A>G (p.Gln23Arg) | gnomAD v4 |
X | g.30308411T>G | CA412547180 | NR0B1 | c.953A>C (p.Gln318Pro) c.68A>C (p.Gln23Pro) | |
X | g.30308412G>A | CA412547185 | NR0B1 | c.952C>T (p.Gln318Ter) c.67C>T (p.Gln23Ter) | ClinVar dbSNP |
X | g.30308412G>C | CA412547183 | NR0B1 | c.952C>G (p.Gln318Glu) c.67C>G (p.Gln23Glu) | |
X | g.30308412G= | CA2422040441 | NR0B1 | c.952C= (p.Gln318=) c.67C= (p.Gln23=) | |
X | g.30308412G>T | CA412547182 | NR0B1 | c.952C>A (p.Gln318Lys) c.67C>A (p.Gln23Lys) | |
X | g.30308412_30308413insGG | CA2693386444 | NR0B1 | c.952_953insCC (p.Gln318ProfsTer?) c.67_68insCC (p.Gln23ProfsTer?) | gnomAD v4 |
X | g.30308413C>A | CA515946128 | NR0B1 | c.951G>T (p.Leu317=) c.66G>T (p.Leu22=) | |
X | g.30308413C= | CA2422040442 | NR0B1 | c.951G= (p.Leu317=) c.66G= (p.Leu22=) | |
X | g.30308413C>G | CA515946126 | NR0B1 | c.951G>C (p.Leu317=) c.66G>C (p.Leu22=) | |
X | g.30308413C>T | CA515946125 | NR0B1 | c.951G>A (p.Leu317=) c.66G>A (p.Leu22=) | dbSNP |
X | g.30308413_30308414insTCCGAGATCTGGGTGGGTG | CA2693386445 | NR0B1 | c.950_951insCACCCACCCAGATCTCGGA (p.Gln318ThrfsTer?) c.65_66insCACCCACCCAGATCTCGGA (p.Gln23ThrfsTer?) | gnomAD v4 |
X | g.30308414A>C | CA412547186 | NR0B1 | c.950T>G (p.Leu317Arg) c.65T>G (p.Leu22Arg) | |
X | g.30308414A>G | CA412547188 | NR0B1 | c.950T>C (p.Leu317Pro) c.65T>C (p.Leu22Pro) | |
X | g.30308414A>T | CA412547187 | NR0B1 | c.950T>A (p.Leu317Gln) c.65T>A (p.Leu22Gln) | |
X | g.30308414dup | CA2695232178 | NR0B1 | c.950dup (p.Gln318AlafsTer?) c.65dup (p.Gln23AlafsTer?) | |
X | g.30308415G>A | CA515946130 | NR0B1 | c.949C>T (p.Leu317=) c.64C>T (p.Leu22=) | |
X | g.30308415G>C | CA412547189 | NR0B1 | c.949C>G (p.Leu317Val) c.64C>G (p.Leu22Val) | |
X | g.30308415G>T | CA412547190 | NR0B1 | c.949C>A (p.Leu317Met) c.64C>A (p.Leu22Met) | |
X | g.30308416C>A | CA412547192 | NR0B1 | c.948G>T (p.Met316Ile) c.63G>T (p.Met21Ile) | dbSNP |
X | g.30308416C= | CA2422040443 | NR0B1 | c.948G= (p.Met316=) c.63G= (p.Met21=) | |
X | g.30308416C>G | CA412547194 | NR0B1 | c.948G>C (p.Met316Ile) c.63G>C (p.Met21Ile) | |
X | g.30308416C>T | CA412547195 | NR0B1 | c.948G>A (p.Met316Ile) c.63G>A (p.Met21Ile) | dbSNP |
X | g.30308417A>C | CA412547197 | NR0B1 | c.947T>G (p.Met316Arg) c.62T>G (p.Met21Arg) | |
X | g.30308417A>G | CA412547199 | NR0B1 | c.947T>C (p.Met316Thr) c.62T>C (p.Met21Thr) | |
X | g.30308417A>T | CA412547201 | NR0B1 | c.947T>A (p.Met316Lys) c.62T>A (p.Met21Lys) | |
X | g.30308418T>A | CA412547202 | NR0B1 | c.946A>T (p.Met316Leu) c.61A>T (p.Met21Leu) | |
X | g.30308418T>C | CA412547204 | NR0B1 | c.946A>G (p.Met316Val) c.61A>G (p.Met21Val) | gnomAD v4 |
X | g.30308418T>G | CA412547207 | NR0B1 | c.946A>C (p.Met316Leu) c.61A>C (p.Met21Leu) | |
X | g.30308419G>A | CA515946132 | NR0B1 | c.945C>T (p.Ser315=) c.60C>T (p.Ser20=) | dbSNP |
X | g.30308419G>C | CA412547211 | NR0B1 | c.945C>G (p.Ser315Arg) c.60C>G (p.Ser20Arg) | |
X | g.30308419G= | CA2422040444 | NR0B1 | c.945C= (p.Ser315=) c.60C= (p.Ser20=) | |
X | g.30308419G>T | CA412547209 | NR0B1 | c.945C>A (p.Ser315Arg) c.60C>A (p.Ser20Arg) | |
X | g.30308420C>A | CA412547213 | NR0B1 | c.944G>T (p.Ser315Ile) c.59G>T (p.Ser20Ile) | |
X | g.30308420C= | CA2422040445 | NR0B1 | c.944G= (p.Ser315=) c.59G= (p.Ser20=) | |
X | g.30308420C>G | CA412547214 | NR0B1 | c.944G>C (p.Ser315Thr) c.59G>C (p.Ser20Thr) | |
X | g.30308420C>T | CA412547217 | NR0B1 | c.944G>A (p.Ser315Asn) c.59G>A (p.Ser20Asn) | dbSNP |
X | g.30308421T>A | CA412547220 | NR0B1 | c.943A>T (p.Ser315Cys) c.58A>T (p.Ser20Cys) | |
X | g.30308421T>C | CA412547221 | NR0B1 | c.943A>G (p.Ser315Gly) c.58A>G (p.Ser20Gly) | gnomAD v4 |
X | g.30308421T>G | CA412547222 | NR0B1 | c.943A>C (p.Ser315Arg) c.58A>C (p.Ser20Arg) | |
X | g.30308421_30308422dup | CA2695232179 | NR0B1 | c.942_943dup (p.Ser315ThrfsTer?) c.57_58dup (p.Ser20ThrfsTer?) | |
X | g.30308422G>A | CA515946139 | NR0B1 | c.942C>T (p.Pro314=) c.57C>T (p.Pro19=) | |
X | g.30308422G>C | CA515946140 | NR0B1 | c.942C>G (p.Pro314=) c.57C>G (p.Pro19=) | |
X | g.30308422G>T | CA515946141 | NR0B1 | c.942C>A (p.Pro314=) c.57C>A (p.Pro19=) | |
X | g.30308423G>A | CA412547225 | NR0B1 | c.941C>T (p.Pro314Leu) c.56C>T (p.Pro19Leu) | |
X | g.30308423G>C | CA412547227 | NR0B1 | c.941C>G (p.Pro314Arg) c.56C>G (p.Pro19Arg) | |
X | g.30308423G>T | CA412547229 | NR0B1 | c.941C>A (p.Pro314His) c.56C>A (p.Pro19His) | |
X | g.30308424G>A | CA412547231 | NR0B1 | c.940C>T (p.Pro314Ser) c.55C>T (p.Pro19Ser) | |
X | g.30308424G>C | CA10376334 | NR0B1 | c.940C>G (p.Pro314Ala) c.55C>G (p.Pro19Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308424G= | CA2422040446 | NR0B1 | c.940C= (p.Pro314=) c.55C= (p.Pro19=) | |
X | g.30308424G>T | CA412547232 | NR0B1 | c.940C>A (p.Pro314Thr) c.55C>A (p.Pro19Thr) | gnomAD v4 |
X | g.30308425C>A | CA10376335 | NR0B1 | c.939G>T (p.Glu313Asp) c.54G>T (p.Glu18Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308425C= | CA2422040447 | NR0B1 | c.939G= (p.Glu313=) c.54G= (p.Glu18=) | |
X | g.30308425C>G | CA327975933 | NR0B1 | c.939G>C (p.Glu313Asp) c.54G>C (p.Glu18Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.30308425C>T | CA515946150 | NR0B1 | c.939G>A (p.Glu313=) c.54G>A (p.Glu18=) | |
X | g.30308426T>A | CA412547233 | NR0B1 | c.938A>T (p.Glu313Val) c.53A>T (p.Glu18Val) | |
X | g.30308426T>C | CA412547234 | NR0B1 | c.938A>G (p.Glu313Gly) c.53A>G (p.Glu18Gly) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308426T>G | CA412547235 | NR0B1 | c.938A>C (p.Glu313Ala) c.53A>C (p.Glu18Ala) | |
X | g.30308426T= | CA2422040448 | NR0B1 | c.938A= (p.Glu313=) c.53A= (p.Glu18=) | |
X | g.30308427C>A | CA412547236 | NR0B1 | c.937G>T (p.Glu313Ter) c.52G>T (p.Glu18Ter) | gnomAD v4 |
X | g.30308427C= | CA2422040449 | NR0B1 | c.937G= (p.Glu313=) c.52G= (p.Glu18=) | |
X | g.30308427C>G | CA412547237 | NR0B1 | c.937G>C (p.Glu313Gln) c.52G>C (p.Glu18Gln) | |
X | g.30308427C>T | CA10376336 | NR0B1 | c.937G>A (p.Glu313Lys) c.52G>A (p.Glu18Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308428C>A | CA515946154 | NR0B1 | c.936G>T (p.Ser312=) c.51G>T (p.Ser17=) | |
X | g.30308428C= | CA2422040450 | NR0B1 | c.936G= (p.Ser312=) c.51G= (p.Ser17=) | |
X | g.30308428C>G | CA515946156 | NR0B1 | c.936G>C (p.Ser312=) c.51G>C (p.Ser17=) | |
X | g.30308428C>T | CA10376337 | NR0B1 | c.936G>A (p.Ser312=) c.51G>A (p.Ser17=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
X | g.30308429del | CA2695232180 | NR0B1 | c.935del (p.Ser312TrpfsTer?) c.50del (p.Ser17TrpfsTer?) | |
X | g.30308429G>A | CA10376339 | NR0B1 | c.935C>T (p.Ser312Leu) c.50C>T (p.Ser17Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308429G>C | CA10376338 | NR0B1 | c.935C>G (p.Ser312Trp) c.50C>G (p.Ser17Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308429G= | CA2422040451 | NR0B1 | c.935C= (p.Ser312=) c.50C= (p.Ser17=) | |
X | g.30308429G>T | CA412547238 | NR0B1 | c.935C>A (p.Ser312Ter) c.50C>A (p.Ser17Ter) | |
X | g.30308430A>C | CA412547239 | NR0B1 | c.934T>G (p.Ser312Ala) c.49T>G (p.Ser17Ala) | |
X | g.30308430A>G | CA412547240 | NR0B1 | c.934T>C (p.Ser312Pro) c.49T>C (p.Ser17Pro) | |
X | g.30308430A>T | CA412547241 | NR0B1 | c.934T>A (p.Ser312Thr) c.49T>A (p.Ser17Thr) | |
X | g.30308431G>A | CA515946161 | NR0B1 | c.933C>T (p.Val311=) c.48C>T (p.Val16=) | |
X | g.30308431G>C | CA515946163 | NR0B1 | c.933C>G (p.Val311=) c.48C>G (p.Val16=) | |
X | g.30308431G= | CA2422040452 | NR0B1 | c.933C= (p.Val311=) c.48C= (p.Val16=) | |
X | g.30308431G>T | CA10376340 | NR0B1 | c.933C>A (p.Val311=) c.48C>A (p.Val16=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308432A= | CA2422040453 | NR0B1 | c.932T= (p.Val311=) c.47T= (p.Val16=) | |
X | g.30308432A>C | CA412547242 | NR0B1 | c.932T>G (p.Val311Gly) c.47T>G (p.Val16Gly) | |
X | g.30308432A>G | CA412547244 | NR0B1 | c.932T>C (p.Val311Ala) c.47T>C (p.Val16Ala) | dbSNP gnomAD v4 |
X | g.30308432A>T | CA412547243 | NR0B1 | c.932T>A (p.Val311Asp) c.47T>A (p.Val16Asp) | |
X | g.30308433C>A | CA412547245 | NR0B1 | c.931G>T (p.Val311Phe) c.46G>T (p.Val16Phe) | |
X | g.30308433C= | CA2422040454 | NR0B1 | c.931G= (p.Val311=) c.46G= (p.Val16=) | |
X | g.30308433C>G | CA412547246 | NR0B1 | c.931G>C (p.Val311Leu) c.46G>C (p.Val16Leu) | |
X | g.30308433C>T | CA412547247 | NR0B1 | c.931G>A (p.Val311Ile) c.46G>A (p.Val16Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308434T>A | CA412547248 | NR0B1 | c.930A>T (p.Glu310Asp) c.45A>T (p.Glu15Asp) | |
X | g.30308434T>C | CA515946168 | NR0B1 | c.930A>G (p.Glu310=) c.45A>G (p.Glu15=) | |
X | g.30308434T>G | CA412547250 | NR0B1 | c.930A>C (p.Glu310Asp) c.45A>C (p.Glu15Asp) | |
X | g.30308435T>A | CA412547251 | NR0B1 | c.929A>T (p.Glu310Val) c.44A>T (p.Glu15Val) | |
X | g.30308435T>C | CA412547252 | NR0B1 | c.929A>G (p.Glu310Gly) c.44A>G (p.Glu15Gly) | gnomAD v4 |
X | g.30308435T>G | CA412547253 | NR0B1 | c.929A>C (p.Glu310Ala) c.44A>C (p.Glu15Ala) | gnomAD v4 |
X | g.30308436C>A | CA412547254 | NR0B1 | c.928G>T (p.Glu310Ter) c.43G>T (p.Glu15Ter) | gnomAD v4 |
X | g.30308436C>G | CA412547255 | NR0B1 | c.928G>C (p.Glu310Gln) c.43G>C (p.Glu15Gln) | |
X | g.30308436C>T | CA412547256 | NR0B1 | c.928G>A (p.Glu310Lys) c.43G>A (p.Glu15Lys) | gnomAD v4 |
X | g.30308436_30308438delinsCCA | CA2422040455 | NR0B1 | c.926_928delinsTGG (p.Val309=) c.41_43delinsTGG (p.Val14=) | |
X | g.30308437C>A | CA515946173 | NR0B1 | c.927G>T (p.Val309=) c.42G>T (p.Val14=) | gnomAD v4 |
X | g.30308437C>G | CA515946174 | NR0B1 | c.927G>C (p.Val309=) c.42G>C (p.Val14=) | gnomAD v4 |
X | g.30308437C>T | CA515946175 | NR0B1 | c.927G>A (p.Val309=) c.42G>A (p.Val14=) | |
X | g.30308439_30308440del | CA1132011861 | NR0B1 | c.926_927del (p.Val309GlyfsTer?) c.41_42del (p.Val14GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308438A>C | CA412547258 | NR0B1 | c.926T>G (p.Val309Gly) c.41T>G (p.Val14Gly) | |
X | g.30308438A>G | CA412547259 | NR0B1 | c.926T>C (p.Val309Ala) c.41T>C (p.Val14Ala) | |
X | g.30308438A>T | CA412547257 | NR0B1 | c.926T>A (p.Val309Glu) c.41T>A (p.Val14Glu) | |
X | g.30308439C>A | CA412547261 | NR0B1 | c.925G>T (p.Val309Leu) c.40G>T (p.Val14Leu) | |
X | g.30308439C= | CA2422040456 | NR0B1 | c.925G= (p.Val309=) c.40G= (p.Val14=) | |
X | g.30308439C>G | CA412547260 | NR0B1 | c.925G>C (p.Val309Leu) c.40G>C (p.Val14Leu) | dbSNP |
X | g.30308439C>T | CA412547262 | NR0B1 | c.925G>A (p.Val309Met) c.40G>A (p.Val14Met) | |
X | g.30308440A= | CA2422040457 | NR0B1 | c.924T= (p.Thr308=) c.39T= (p.Thr13=) | |
X | g.30308440A>C | CA515946181 | NR0B1 | c.924T>G (p.Thr308=) c.39T>G (p.Thr13=) | dbSNP |
X | g.30308440A>G | CA515946178 | NR0B1 | c.924T>C (p.Thr308=) c.39T>C (p.Thr13=) | |
X | g.30308440A>T | CA515946180 | NR0B1 | c.924T>A (p.Thr308=) c.39T>A (p.Thr13=) | |
X | g.30308441G>A | CA412547263 | NR0B1 | c.923C>T (p.Thr308Ile) c.38C>T (p.Thr13Ile) | |
X | g.30308441G>C | CA412547264 | NR0B1 | c.923C>G (p.Thr308Ser) c.38C>G (p.Thr13Ser) | |
X | g.30308441G>T | CA412547266 | NR0B1 | c.923C>A (p.Thr308Asn) c.38C>A (p.Thr13Asn) | gnomAD v4 |
X | g.30308442T>A | CA412547268 | NR0B1 | c.922A>T (p.Thr308Ser) c.37A>T (p.Thr13Ser) | |
X | g.30308442T>C | CA412547269 | NR0B1 | c.922A>G (p.Thr308Ala) c.37A>G (p.Thr13Ala) | gnomAD v4 COSMIC COSMIC |
X | g.30308442T>G | CA412547271 | NR0B1 | c.922A>C (p.Thr308Pro) c.37A>C (p.Thr13Pro) | |
X | g.30308443C>A | CA412547273 | NR0B1 | c.921G>T (p.Glu307Asp) c.36G>T (p.Glu12Asp) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308443C= | CA2422040458 | NR0B1 | c.921G= (p.Glu307=) c.36G= (p.Glu12=) | |
X | g.30308443C>G | CA412547275 | NR0B1 | c.921G>C (p.Glu307Asp) c.36G>C (p.Glu12Asp) | |
X | g.30308443C>T | CA515946185 | NR0B1 | c.921G>A (p.Glu307=) c.36G>A (p.Glu12=) | |
X | g.30308444T>A | CA412547276 | NR0B1 | c.920A>T (p.Glu307Val) c.35A>T (p.Glu12Val) | |
X | g.30308444T>C | CA412547277 | NR0B1 | c.920A>G (p.Glu307Gly) c.35A>G (p.Glu12Gly) | |
X | g.30308444T>G | CA412547278 | NR0B1 | c.920A>C (p.Glu307Ala) c.35A>C (p.Glu12Ala) | |
X | g.30308445C>A | CA412547279 | NR0B1 | c.919G>T (p.Glu307Ter) c.34G>T (p.Glu12Ter) | ClinVar dbSNP |
X | g.30308445C= | CA2422040459 | NR0B1 | c.919G= (p.Glu307=) c.34G= (p.Glu12=) | |
X | g.30308445C>G | CA412547280 | NR0B1 | c.919G>C (p.Glu307Gln) c.34G>C (p.Glu12Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.30308445C>T | CA412547281 | NR0B1 | c.919G>A (p.Glu307Lys) c.34G>A (p.Glu12Lys) | |
X | g.30308446G>A | CA515946191 | NR0B1 | c.918C>T (p.Phe306=) c.33C>T (p.Phe11=) | gnomAD v4 COSMIC COSMIC |
X | g.30308446G>C | CA412547283 | NR0B1 | c.918C>G (p.Phe306Leu) c.33C>G (p.Phe11Leu) | |
X | g.30308446G= | CA2422040460 | NR0B1 | c.918C= (p.Phe306=) c.33C= (p.Phe11=) | |
X | g.30308446G>T | CA412547284 | NR0B1 | c.918C>A (p.Phe306Leu) c.33C>A (p.Phe11Leu) | dbSNP gnomAD v2 |
X | g.30308447A>C | CA412547287 | NR0B1 | c.917T>G (p.Phe306Cys) c.32T>G (p.Phe11Cys) | |
X | g.30308447A>G | CA412547288 | NR0B1 | c.917T>C (p.Phe306Ser) c.32T>C (p.Phe11Ser) | |
X | g.30308447A>T | CA412547290 | NR0B1 | c.917T>A (p.Phe306Tyr) c.32T>A (p.Phe11Tyr) | |
X | g.30308448A>C | CA412547293 | NR0B1 | c.916T>G (p.Phe306Val) c.31T>G (p.Phe11Val) | |
X | g.30308448A>G | CA412547294 | NR0B1 | c.916T>C (p.Phe306Leu) c.31T>C (p.Phe11Leu) | |
X | g.30308448A>T | CA412547297 | NR0B1 | c.916T>A (p.Phe306Ile) c.31T>A (p.Phe11Ile) | |
X | g.30308449del | CA2695232181 | NR0B1 | c.915del (p.Gln305HisfsTer?) c.30del (p.Gln10HisfsTer?) | |
X | g.30308449C>A | CA412547299 | NR0B1 | c.915G>T (p.Gln305His) c.30G>T (p.Gln10His) | gnomAD v4 |
X | g.30308449C>G | CA412547301 | NR0B1 | c.915G>C (p.Gln305His) c.30G>C (p.Gln10His) | |
X | g.30308449C>T | CA515946198 | NR0B1 | c.915G>A (p.Gln305=) c.30G>A (p.Gln10=) | |
X | g.30308450T>A | CA412547303 | NR0B1 | c.914A>T (p.Gln305Leu) c.29A>T (p.Gln10Leu) | |
X | g.30308450T>C | CA412547305 | NR0B1 | c.914A>G (p.Gln305Arg) c.29A>G (p.Gln10Arg) | |
X | g.30308450T>G | CA412547307 | NR0B1 | c.914A>C (p.Gln305Pro) c.29A>C (p.Gln10Pro) | |
X | g.30308451G>A | CA412547314 | NR0B1 | c.913C>T (p.Gln305Ter) c.28C>T (p.Gln10Ter) | |
X | g.30308451G>C | CA412547312 | NR0B1 | c.913C>G (p.Gln305Glu) c.28C>G (p.Gln10Glu) | |
X | g.30308451G>T | CA412547310 | NR0B1 | c.913C>A (p.Gln305Lys) c.28C>A (p.Gln10Lys) | |
X | g.30308452C>A | CA412547317 | NR0B1 | c.912G>T (p.Leu304Phe) c.27G>T (p.Leu9Phe) | |
X | g.30308452C= | CA2422040461 | NR0B1 | c.912G= (p.Leu304=) c.27G= (p.Leu9=) | |
X | g.30308452C>G | CA412547319 | NR0B1 | c.912G>C (p.Leu304Phe) c.27G>C (p.Leu9Phe) | |
X | g.30308452C>T | CA10376341 | NR0B1 | c.912G>A (p.Leu304=) c.27G>A (p.Leu9=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308453A>C | CA412547323 | NR0B1 | c.911T>G (p.Leu304Trp) c.26T>G (p.Leu9Trp) | |
X | g.30308453A>G | CA412547324 | NR0B1 | c.911T>C (p.Leu304Ser) c.26T>C (p.Leu9Ser) | gnomAD v4 |
X | g.30308453A>T | CA412547326 | NR0B1 | c.911T>A (p.Leu304Ter) c.26T>A (p.Leu9Ter) | |
X | g.30308454A= | CA2422040462 | NR0B1 | c.910T= (p.Leu304=) c.25T= (p.Leu9=) | |
X | g.30308454A>C | CA412547329 | NR0B1 | c.910T>G (p.Leu304Val) c.25T>G (p.Leu9Val) | |
X | g.30308454A>G | CA515946208 | NR0B1 | c.910T>C (p.Leu304=) c.25T>C (p.Leu9=) | dbSNP gnomAD v2 gnomAD v4 |
X | g.30308454A>T | CA412547331 | NR0B1 | c.910T>A (p.Leu304Met) c.25T>A (p.Leu9Met) | |
X | g.30308455G>A | CA515946209 | NR0B1 | c.909C>T (p.Arg303=) c.24C>T (p.Arg8=) | COSMIC COSMIC |
X | g.30308455G>C | CA515946210 | NR0B1 | c.909C>G (p.Arg303=) c.24C>G (p.Arg8=) | |
X | g.30308455G>T | CA515946211 | NR0B1 | c.909C>A (p.Arg303=) c.24C>A (p.Arg8=) | |
X | g.30308456C>A | CA412547333 | NR0B1 | c.908G>T (p.Arg303Leu) c.23G>T (p.Arg8Leu) | |
X | g.30308456C>G | CA412547334 | NR0B1 | c.908G>C (p.Arg303Pro) c.23G>C (p.Arg8Pro) | |
X | g.30308456C>T | CA412547336 | NR0B1 | c.908G>A (p.Arg303His) c.23G>A (p.Arg8His) | dbSNP gnomAD v4 COSMIC COSMIC |
X | g.30308457G>A | CA10376342 | NR0B1 | c.907C>T (p.Arg303Cys) c.22C>T (p.Arg8Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.30308457G>C | CA412547339 | NR0B1 | c.907C>G (p.Arg303Gly) c.22C>G (p.Arg8Gly) | |
X | g.30308457G= | CA2422040463 | NR0B1 | c.907C= (p.Arg303=) c.22C= (p.Arg8=) | |
X | g.30308457G>T | CA412547341 | NR0B1 | c.907C>A (p.Arg303Ser) c.22C>A (p.Arg8Ser) | |
X | g.30308458G>A | CA515946214 | NR0B1 | c.906C>T (p.Asp302=) c.21C>T (p.Asp7=) | gnomAD v4 |
X | g.30308458G>C | CA412547344 | NR0B1 | c.906C>G (p.Asp302Glu) c.21C>G (p.Asp7Glu) | |
X | g.30308458G>T | CA412547345 | NR0B1 | c.906C>A (p.Asp302Glu) c.21C>A (p.Asp7Glu) | |
X | g.30308459T>A | CA412547349 | NR0B1 | c.905A>T (p.Asp302Val) c.20A>T (p.Asp7Val) | |
X | g.30308459T>C | CA412547351 | NR0B1 | c.905A>G (p.Asp302Gly) c.20A>G (p.Asp7Gly) | |
X | g.30308459T>G | CA412547353 | NR0B1 | c.905A>C (p.Asp302Ala) c.20A>C (p.Asp7Ala) | |
X | g.30308460C>A | CA412547355 | NR0B1 | c.904G>T (p.Asp302Tyr) c.19G>T (p.Asp7Tyr) | gnomAD v4 |
X | g.30308460C>G | CA412547356 | NR0B1 | c.904G>C (p.Asp302His) c.19G>C (p.Asp7His) | |
X | g.30308460C>T | CA412547357 | NR0B1 | c.904G>A (p.Asp302Asn) c.19G>A (p.Asp7Asn) | |
X | g.30308461C>A | CA412547360 | NR0B1 | c.903G>T (p.Gln301His) c.18G>T (p.Gln6His) | gnomAD v4 |
X | g.30308461C= | CA2422040464 | NR0B1 | c.903G= (p.Gln301=) c.18G= (p.Gln6=) | |
X | g.30308461C>G | CA412547362 | NR0B1 | c.903G>C (p.Gln301His) c.18G>C (p.Gln6His) | dbSNP gnomAD v3 gnomAD v4 |
X | g.30308461C>T | CA515946220 | NR0B1 | c.903G>A (p.Gln301=) c.18G>A (p.Gln6=) |