Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.119807347G>A | CA2557730 | NR1I2 | c.97G>A (p.Glu33Lys) c.*120G>A (n.*120G>A) c.214G>A (p.Glu72Lys) n.385G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807347G>C | CA354055772 | NR1I2 | c.97G>C (p.Glu33Gln) c.*120G>C (n.*120G>C) c.214G>C (p.Glu72Gln) n.385G>C | |
3 | g.119807347G= | CA1396723495 | NR1I2 | c.97G= (p.Glu33=) c.*120G= (n.*120G=) c.214G= (p.Glu72=) n.385G= | |
3 | g.119807347G>T | CA354055773 | NR1I2 | c.97G>T (p.Glu33Ter) c.*120G>T (n.*120G>T) c.214G>T (p.Glu72Ter) n.385G>T | dbSNP |
3 | g.119807348del | CA2667141650 | NR1I2 | c.98del (p.Glu33GlyfsTer24) c.*121del (n.*121del) c.215del (p.Glu72GlyfsTer24) n.386del | gnomAD v4 |
3 | g.119807348A>C | CA354055775 | NR1I2 | c.98A>C (p.Glu33Ala) c.*121A>C (n.*121A>C) c.215A>C (p.Glu72Ala) n.386A>C | |
3 | g.119807348A>G | CA354055777 | NR1I2 | c.98A>G (p.Glu33Gly) c.*121A>G (n.*121A>G) c.215A>G (p.Glu72Gly) n.386A>G | |
3 | g.119807348A>T | CA354055779 | NR1I2 | c.98A>T (p.Glu33Val) c.*121A>T (n.*121A>T) c.215A>T (p.Glu72Val) n.386A>T | |
3 | g.119807349G>A | CA435219442 | NR1I2 | c.99G>A (p.Glu33=) c.*122G>A (n.*122G>A) c.216G>A (p.Glu72=) n.387G>A | dbSNP gnomAD v4 |
3 | g.119807349G>C | CA354055781 | NR1I2 | c.99G>C (p.Glu33Asp) c.*122G>C (n.*122G>C) c.216G>C (p.Glu72Asp) n.387G>C | |
3 | g.119807349G= | CA1396723496 | NR1I2 | c.99G= (p.Glu33=) c.*122G= (n.*122G=) c.216G= (p.Glu72=) n.387G= | |
3 | g.119807349G>T | CA354055783 | NR1I2 | c.99G>T (p.Glu33Asp) c.*122G>T (n.*122G>T) c.216G>T (p.Glu72Asp) n.387G>T | |
3 | g.119807350dup | CA2667141651 | NR1I2 | c.100dup (p.Glu34GlyfsTer26) c.*123dup (n.*123dup) c.217dup (p.Glu73GlyfsTer26) n.388dup | gnomAD v4 |
3 | g.119807350G>A | CA2557731 | NR1I2 | c.100G>A (p.Glu34Lys) c.*123G>A (n.*123G>A) c.217G>A (p.Glu73Lys) n.388G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807350G>C | CA354055786 | NR1I2 | c.100G>C (p.Glu34Gln) c.*123G>C (n.*123G>C) c.217G>C (p.Glu73Gln) n.388G>C | |
3 | g.119807350G= | CA1396723497 | NR1I2 | c.100G= (p.Glu34=) c.*123G= (n.*123G=) c.217G= (p.Glu73=) n.388G= | |
3 | g.119807350G>T | CA354055787 | NR1I2 | c.100G>T (p.Glu34Ter) c.*123G>T (n.*123G>T) c.217G>T (p.Glu73Ter) n.388G>T | |
3 | g.119807351A>C | CA354055792 | NR1I2 | c.101A>C (p.Glu34Ala) c.*124A>C (n.*124A>C) c.218A>C (p.Glu73Ala) n.389A>C | |
3 | g.119807351A>G | CA354055790 | NR1I2 | c.101A>G (p.Glu34Gly) c.*124A>G (n.*124A>G) c.218A>G (p.Glu73Gly) n.389A>G | |
3 | g.119807351A>T | CA354055789 | NR1I2 | c.101A>T (p.Glu34Val) c.*124A>T (n.*124A>T) c.218A>T (p.Glu73Val) n.389A>T | |
3 | g.119807352A= | CA1396723498 | NR1I2 | c.102A= (p.Glu34=) c.*125A= (n.*125A=) c.219A= (p.Glu73=) n.390A= | |
3 | g.119807352A>C | CA354055794 | NR1I2 | c.102A>C (p.Glu34Asp) c.*125A>C (n.*125A>C) c.219A>C (p.Glu73Asp) n.390A>C | |
3 | g.119807352A>G | CA435219448 | NR1I2 | c.102A>G (p.Glu34=) c.*125A>G (n.*125A>G) c.219A>G (p.Glu73=) n.390A>G | |
3 | g.119807352A>T | CA2557732 | NR1I2 | c.102A>T (p.Glu34Asp) c.*125A>T (n.*125A>T) c.219A>T (p.Glu73Asp) n.390A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807353G>A | CA354055797 | NR1I2 | c.103G>A (p.Val35Ile) c.*126G>A (n.*126G>A) c.220G>A (p.Val74Ile) n.391G>A | |
3 | g.119807353G>C | CA354055798 | NR1I2 | c.103G>C (p.Val35Leu) c.*126G>C (n.*126G>C) c.220G>C (p.Val74Leu) n.391G>C | gnomAD v4 |
3 | g.119807353G>T | CA354055800 | NR1I2 | c.103G>T (p.Val35Phe) c.*126G>T (n.*126G>T) c.220G>T (p.Val74Phe) n.391G>T | |
3 | g.119807354T>A | CA354055802 | NR1I2 | c.104T>A (p.Val35Asp) c.*127T>A (n.*127T>A) c.221T>A (p.Val74Asp) n.392T>A | gnomAD v4 |
3 | g.119807354T>C | CA354055804 | NR1I2 | c.104T>C (p.Val35Ala) c.*127T>C (n.*127T>C) c.221T>C (p.Val74Ala) n.392T>C | |
3 | g.119807354T>G | CA354055805 | NR1I2 | c.104T>G (p.Val35Gly) c.*127T>G (n.*127T>G) c.221T>G (p.Val74Gly) n.392T>G | |
3 | g.119807355C>A | CA435219453 | NR1I2 | c.105C>A (p.Val35=) c.*128C>A (n.*128C>A) c.222C>A (p.Val74=) n.393C>A | |
3 | g.119807355C= | CA1396723499 | NR1I2 | c.105C= (p.Val35=) c.*128C= (n.*128C=) c.222C= (p.Val74=) n.393C= | |
3 | g.119807355C>G | CA435219455 | NR1I2 | c.105C>G (p.Val35=) c.*128C>G (n.*128C>G) c.222C>G (p.Val74=) n.393C>G | |
3 | g.119807355C>T | CA2557733 | NR1I2 | c.105C>T (p.Val35=) c.*128C>T (n.*128C>T) c.222C>T (p.Val74=) n.393C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807356G>A | CA2557734 | NR1I2 | c.106G>A (p.Gly36Arg) c.*129G>A (n.*129G>A) c.223G>A (p.Gly75Arg) n.394G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807356G>C | CA354055808 | NR1I2 | c.106G>C (p.Gly36Arg) c.*129G>C (n.*129G>C) c.223G>C (p.Gly75Arg) n.394G>C | |
3 | g.119807356G= | CA1396723500 | NR1I2 | c.106G= (p.Gly36=) c.*129G= (n.*129G=) c.223G= (p.Gly75=) n.394G= | |
3 | g.119807356G>T | CA354055809 | NR1I2 | c.106G>T (p.Gly36Ter) c.*129G>T (n.*129G>T) c.223G>T (p.Gly75Ter) n.394G>T | |
3 | g.119807357G>A | CA2557735 | NR1I2 | c.107G>A (p.Gly36Glu) c.*130G>A (n.*130G>A) c.224G>A (p.Gly75Glu) n.395G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807357G>C | CA354055813 | NR1I2 | c.107G>C (p.Gly36Ala) c.*130G>C (n.*130G>C) c.224G>C (p.Gly75Ala) n.395G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807357G= | CA1396723501 | NR1I2 | c.107G= (p.Gly36=) c.*130G= (n.*130G=) c.224G= (p.Gly75=) n.395G= | |
3 | g.119807357G>T | CA354055812 | NR1I2 | c.107G>T (p.Gly36Val) c.*130G>T (n.*130G>T) c.224G>T (p.Gly75Val) n.395G>T | |
3 | g.119807358A>C | CA435219458 | NR1I2 | c.108A>C (p.Gly36=) c.*131A>C (n.*131A>C) c.225A>C (p.Gly75=) n.396A>C | |
3 | g.119807358A>G | CA435219457 | NR1I2 | c.108A>G (p.Gly36=) c.*131A>G (n.*131A>G) c.225A>G (p.Gly75=) n.396A>G | |
3 | g.119807358A>T | CA435219456 | NR1I2 | c.108A>T (p.Gly36=) c.*131A>T (n.*131A>T) c.225A>T (p.Gly75=) n.396A>T | |
3 | g.119807359G>A | CA81750853 | NR1I2 | c.109G>A (p.Gly37Ser) c.*132G>A (n.*132G>A) c.226G>A (p.Gly76Ser) n.397G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807359G>C | CA354055817 | NR1I2 | c.109G>C (p.Gly37Arg) c.*132G>C (n.*132G>C) c.226G>C (p.Gly76Arg) n.397G>C | |
3 | g.119807359G= | CA1396723502 | NR1I2 | c.109G= (p.Gly37=) c.*132G= (n.*132G=) c.226G= (p.Gly76=) n.397G= | |
3 | g.119807359G>T | CA354055818 | NR1I2 | c.109G>T (p.Gly37Cys) c.*132G>T (n.*132G>T) c.226G>T (p.Gly76Cys) n.397G>T | |
3 | g.119807360G>A | CA354055820 | NR1I2 | c.110G>A (p.Gly37Asp) c.*133G>A (n.*133G>A) c.227G>A (p.Gly76Asp) n.398G>A | gnomAD v4 COSMIC |
3 | g.119807360G>C | CA354055822 | NR1I2 | c.110G>C (p.Gly37Ala) c.*133G>C (n.*133G>C) c.227G>C (p.Gly76Ala) n.398G>C | |
3 | g.119807360G>T | CA354055823 | NR1I2 | c.110G>T (p.Gly37Val) c.*133G>T (n.*133G>T) c.227G>T (p.Gly76Val) n.398G>T | COSMIC |
3 | g.119807361T>A | CA435219465 | NR1I2 | c.111T>A (p.Gly37=) c.*134T>A (n.*134T>A) c.228T>A (p.Gly76=) n.399T>A | |
3 | g.119807361T>C | CA435219467 | NR1I2 | c.111T>C (p.Gly37=) c.*134T>C (n.*134T>C) c.228T>C (p.Gly76=) n.399T>C | |
3 | g.119807361T>G | CA435219466 | NR1I2 | c.111T>G (p.Gly37=) c.*134T>G (n.*134T>G) c.228T>G (p.Gly76=) n.399T>G | |
3 | g.119807362C>A | CA354055825 | NR1I2 | c.112C>A (p.Pro38Thr) c.*135C>A (n.*135C>A) c.229C>A (p.Pro77Thr) n.400C>A | |
3 | g.119807362C>G | CA354055827 | NR1I2 | c.112C>G (p.Pro38Ala) c.*135C>G (n.*135C>G) c.229C>G (p.Pro77Ala) n.400C>G | |
3 | g.119807362C>T | CA354055829 | NR1I2 | c.112C>T (p.Pro38Ser) c.*135C>T (n.*135C>T) c.229C>T (p.Pro77Ser) n.400C>T | gnomAD v4 |
3 | g.119807365del | CA2667141652 | NR1I2 | c.115del (p.Gln39LysfsTer18) c.*138del (n.*138del) c.232del (p.Gln78LysfsTer18) n.403del | gnomAD v4 |
3 | g.119807363C>A | CA354055830 | NR1I2 | c.113C>A (p.Pro38His) c.*136C>A (n.*136C>A) c.230C>A (p.Pro77His) n.401C>A | |
3 | g.119807363C>G | CA354055831 | NR1I2 | c.113C>G (p.Pro38Arg) c.*136C>G (n.*136C>G) c.230C>G (p.Pro77Arg) n.401C>G | |
3 | g.119807363C>T | CA354055832 | NR1I2 | c.113C>T (p.Pro38Leu) c.*136C>T (n.*136C>T) c.230C>T (p.Pro77Leu) n.401C>T | |
3 | g.119807364C>A | CA435219529 | NR1I2 | c.114C>A (p.Pro38=) c.*137C>A (n.*137C>A) c.231C>A (p.Pro77=) n.402C>A | |
3 | g.119807364C>G | CA435219530 | NR1I2 | c.114C>G (p.Pro38=) c.*137C>G (n.*137C>G) c.231C>G (p.Pro77=) n.402C>G | gnomAD v4 |
3 | g.119807364C>T | CA435219531 | NR1I2 | c.114C>T (p.Pro38=) c.*137C>T (n.*137C>T) c.231C>T (p.Pro77=) n.402C>T | |
3 | g.119807365C>A | CA354055835 | NR1I2 | c.115C>A (p.Gln39Lys) c.*138C>A (n.*138C>A) c.232C>A (p.Gln78Lys) n.403C>A | gnomAD v4 |
3 | g.119807365C>G | CA354055834 | NR1I2 | c.115C>G (p.Gln39Glu) c.*138C>G (n.*138C>G) c.232C>G (p.Gln78Glu) n.403C>G | |
3 | g.119807365C>T | CA354055833 | NR1I2 | c.115C>T (p.Gln39Ter) c.*138C>T (n.*138C>T) c.232C>T (p.Gln78Ter) n.403C>T | |
3 | g.119807366A>C | CA354055837 | NR1I2 | c.116A>C (p.Gln39Pro) c.*139A>C (n.*139A>C) c.233A>C (p.Gln78Pro) n.404A>C | |
3 | g.119807366A>G | CA354055839 | NR1I2 | c.116A>G (p.Gln39Arg) c.*139A>G (n.*139A>G) c.233A>G (p.Gln78Arg) n.404A>G | |
3 | g.119807366A>T | CA354055840 | NR1I2 | c.116A>T (p.Gln39Leu) c.*139A>T (n.*139A>T) c.233A>T (p.Gln78Leu) n.404A>T | |
3 | g.119807368del | CA2667141653 | NR1I2 | c.118del (p.Ile40SerfsTer17) c.*141del (n.*141del) c.235del (p.Ile79SerfsTer17) n.406del | gnomAD v4 |
3 | g.119807367A>C | CA354055842 | NR1I2 | c.117A>C (p.Gln39His) c.*140A>C (n.*140A>C) c.234A>C (p.Gln78His) n.405A>C | |
3 | g.119807367A>G | CA435219533 | NR1I2 | c.117A>G (p.Gln39=) c.*140A>G (n.*140A>G) c.234A>G (p.Gln78=) n.405A>G | gnomAD v4 |
3 | g.119807367A>T | CA354055843 | NR1I2 | c.117A>T (p.Gln39His) c.*140A>T (n.*140A>T) c.234A>T (p.Gln78His) n.405A>T | |
3 | g.119807368A= | CA1396723503 | NR1I2 | c.118A= (p.Ile40=) c.*141A= (n.*141A=) c.235A= (p.Ile79=) n.406A= | |
3 | g.119807368A>C | CA354055845 | NR1I2 | c.118A>C (p.Ile40Leu) c.*141A>C (n.*141A>C) c.235A>C (p.Ile79Leu) n.406A>C | |
3 | g.119807368A>G | CA354055848 | NR1I2 | c.118A>G (p.Ile40Val) c.*141A>G (n.*141A>G) c.235A>G (p.Ile79Val) n.406A>G | |
3 | g.119807368A>T | CA2557736 | NR1I2 | c.118A>T (p.Ile40Phe) c.*141A>T (n.*141A>T) c.235A>T (p.Ile79Phe) n.406A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807369T>A | CA354055849 | NR1I2 | c.119T>A (p.Ile40Asn) c.*142T>A (n.*142T>A) c.236T>A (p.Ile79Asn) n.407T>A | |
3 | g.119807369T>C | CA354055851 | NR1I2 | c.119T>C (p.Ile40Thr) c.*142T>C (n.*142T>C) c.236T>C (p.Ile79Thr) n.407T>C | dbSNP |
3 | g.119807369T>G | CA354055853 | NR1I2 | c.119T>G (p.Ile40Ser) c.*142T>G (n.*142T>G) c.236T>G (p.Ile79Ser) n.407T>G | |
3 | g.119807369T= | CA1396723504 | NR1I2 | c.119T= (p.Ile40=) c.*142T= (n.*142T=) c.236T= (p.Ile79=) n.407T= | |
3 | g.119807370C>A | CA435219537 | NR1I2 | c.120C>A (p.Ile40=) c.*143C>A (n.*143C>A) c.237C>A (p.Ile79=) n.408C>A | |
3 | g.119807370C>G | CA354055854 | NR1I2 | c.120C>G (p.Ile40Met) c.*143C>G (n.*143C>G) c.237C>G (p.Ile79Met) n.408C>G | |
3 | g.119807370C>T | CA435219538 | NR1I2 | c.120C>T (p.Ile40=) c.*143C>T (n.*143C>T) c.237C>T (p.Ile79=) n.408C>T | gnomAD v4 |
3 | g.119807371T>A | CA354055860 | NR1I2 | c.121T>A (p.Cys41Ser) c.*144T>A (n.*144T>A) c.238T>A (p.Cys80Ser) n.409T>A | |
3 | g.119807371T>C | CA354055858 | NR1I2 | c.121T>C (p.Cys41Arg) c.*144T>C (n.*144T>C) c.238T>C (p.Cys80Arg) n.409T>C | gnomAD v4 |
3 | g.119807371T>G | CA354055857 | NR1I2 | c.121T>G (p.Cys41Gly) c.*144T>G (n.*144T>G) c.238T>G (p.Cys80Gly) n.409T>G | |
3 | g.119807372G>A | CA354055861 | NR1I2 | c.122G>A (p.Cys41Tyr) c.*145G>A (n.*145G>A) c.239G>A (p.Cys80Tyr) n.410G>A | gnomAD v4 |
3 | g.119807372G>C | CA354055864 | NR1I2 | c.122G>C (p.Cys41Ser) c.*145G>C (n.*145G>C) c.239G>C (p.Cys80Ser) n.410G>C | |
3 | g.119807372G>T | CA354055862 | NR1I2 | c.122G>T (p.Cys41Phe) c.*145G>T (n.*145G>T) c.239G>T (p.Cys80Phe) n.410G>T | |
3 | g.119807373C>A | CA354055866 | NR1I2 | c.123C>A (p.Cys41Ter) c.*146C>A (n.*146C>A) c.240C>A (p.Cys80Ter) n.411C>A | |
3 | g.119807373C= | CA1396723505 | NR1I2 | c.123C= (p.Cys41=) c.*146C= (n.*146C=) c.240C= (p.Cys80=) n.411C= | |
3 | g.119807373C>G | CA354055868 | NR1I2 | c.123C>G (p.Cys41Trp) c.*146C>G (n.*146C>G) c.240C>G (p.Cys80Trp) n.411C>G | |
3 | g.119807373C>T | CA435219540 | NR1I2 | c.123C>T (p.Cys41=) c.*146C>T (n.*146C>T) c.240C>T (p.Cys80=) n.411C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807374C>A | CA354055869 | NR1I2 | c.124C>A (p.Arg42Ser) c.*147C>A (n.*147C>A) c.241C>A (p.Arg81Ser) n.412C>A | |
3 | g.119807374C= | CA1396723506 | NR1I2 | c.124C= (p.Arg42=) c.*147C= (n.*147C=) c.241C= (p.Arg81=) n.412C= | |
3 | g.119807374C>G | CA354055871 | NR1I2 | c.124C>G (p.Arg42Gly) c.*147C>G (n.*147C>G) c.241C>G (p.Arg81Gly) n.412C>G | |
3 | g.119807374C>T | CA2557737 | NR1I2 | c.124C>T (p.Arg42Cys) c.*147C>T (n.*147C>T) c.241C>T (p.Arg81Cys) n.412C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807375G>A | CA2557738 | NR1I2 | c.125G>A (p.Arg42His) c.*148G>A (n.*148G>A) c.242G>A (p.Arg81His) n.413G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807375G>C | CA354055874 | NR1I2 | c.125G>C (p.Arg42Pro) c.*148G>C (n.*148G>C) c.242G>C (p.Arg81Pro) n.413G>C | gnomAD v4 |
3 | g.119807375G= | CA1396723507 | NR1I2 | c.125G= (p.Arg42=) c.*148G= (n.*148G=) c.242G= (p.Arg81=) n.413G= | |
3 | g.119807375G>T | CA354055875 | NR1I2 | c.125G>T (p.Arg42Leu) c.*148G>T (n.*148G>T) c.242G>T (p.Arg81Leu) n.413G>T | dbSNP COSMIC |
3 | g.119807376T>A | CA435219541 | NR1I2 | c.126T>A (p.Arg42=) c.*149T>A (n.*149T>A) c.243T>A (p.Arg81=) n.414T>A | |
3 | g.119807376T>C | CA435219543 | NR1I2 | c.126T>C (p.Arg42=) c.*149T>C (n.*149T>C) c.243T>C (p.Arg81=) n.414T>C | dbSNP |
3 | g.119807376T>G | CA435219542 | NR1I2 | c.126T>G (p.Arg42=) c.*149T>G (n.*149T>G) c.243T>G (p.Arg81=) n.414T>G | |
3 | g.119807376T= | CA1396723508 | NR1I2 | c.126T= (p.Arg42=) c.*149T= (n.*149T=) c.243T= (p.Arg81=) n.414T= | |
3 | g.119807377G>A | CA354055877 | NR1I2 | c.127G>A (p.Val43Ile) c.*150G>A (n.*150G>A) c.244G>A (p.Val82Ile) n.415G>A | |
3 | g.119807377G>C | CA354055878 | NR1I2 | c.127G>C (p.Val43Leu) c.*150G>C (n.*150G>C) c.244G>C (p.Val82Leu) n.415G>C | |
3 | g.119807377G>T | CA354055879 | NR1I2 | c.127G>T (p.Val43Leu) c.*150G>T (n.*150G>T) c.244G>T (p.Val82Leu) n.415G>T | |
3 | g.119807378T>A | CA354055880 | NR1I2 | c.128T>A (p.Val43Glu) c.*151T>A (n.*151T>A) c.245T>A (p.Val82Glu) n.416T>A | |
3 | g.119807378T>C | CA354055881 | NR1I2 | c.128T>C (p.Val43Ala) c.*151T>C (n.*151T>C) c.245T>C (p.Val82Ala) n.416T>C | |
3 | g.119807378T>G | CA354055882 | NR1I2 | c.128T>G (p.Val43Gly) c.*151T>G (n.*151T>G) c.245T>G (p.Val82Gly) n.416T>G | gnomAD v4 |
3 | g.119807379A>C | CA435219546 | NR1I2 | c.129A>C (p.Val43=) c.*152A>C (n.*152A>C) c.246A>C (p.Val82=) n.417A>C | |
3 | g.119807379A>G | CA435219547 | NR1I2 | c.129A>G (p.Val43=) c.*152A>G (n.*152A>G) c.246A>G (p.Val82=) n.417A>G | |
3 | g.119807379A>T | CA435219548 | NR1I2 | c.129A>T (p.Val43=) c.*152A>T (n.*152A>T) c.246A>T (p.Val82=) n.417A>T | |
3 | g.119807380T>A | CA354055883 | NR1I2 | c.130T>A (p.Cys44Ser) c.*153T>A (n.*153T>A) c.247T>A (p.Cys83Ser) n.418T>A | |
3 | g.119807380T>C | CA354055884 | NR1I2 | c.130T>C (p.Cys44Arg) c.*153T>C (n.*153T>C) c.247T>C (p.Cys83Arg) n.418T>C | gnomAD v4 |
3 | g.119807380T>G | CA354055885 | NR1I2 | c.130T>G (p.Cys44Gly) c.*153T>G (n.*153T>G) c.247T>G (p.Cys83Gly) n.418T>G | |
3 | g.119807381G>A | CA81750872 | NR1I2 | c.131G>A (p.Cys44Tyr) c.*154G>A (n.*154G>A) c.248G>A (p.Cys83Tyr) n.419G>A | dbSNP gnomAD v4 |
3 | g.119807381G>C | CA354055887 | NR1I2 | c.131G>C (p.Cys44Ser) c.*154G>C (n.*154G>C) c.248G>C (p.Cys83Ser) n.419G>C | |
3 | g.119807381G= | CA1396723509 | NR1I2 | c.131G= (p.Cys44=) c.*154G= (n.*154G=) c.248G= (p.Cys83=) n.419G= | |
3 | g.119807381G>T | CA354055886 | NR1I2 | c.131G>T (p.Cys44Phe) c.*154G>T (n.*154G>T) c.248G>T (p.Cys83Phe) n.419G>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807382T>A | CA354055888 | NR1I2 | c.132T>A (p.Cys44Ter) c.*155T>A (n.*155T>A) c.249T>A (p.Cys83Ter) n.420T>A | |
3 | g.119807382T>C | CA2557739 | NR1I2 | c.132T>C (p.Cys44=) c.*155T>C (n.*155T>C) c.249T>C (p.Cys83=) n.420T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807382T>G | CA354055891 | NR1I2 | c.132T>G (p.Cys44Trp) c.*155T>G (n.*155T>G) c.249T>G (p.Cys83Trp) n.420T>G | |
3 | g.119807382T= | CA1396723510 | NR1I2 | c.132T= (p.Cys44=) c.*155T= (n.*155T=) c.249T= (p.Cys83=) n.420T= | |
3 | g.119807383G>A | CA354055892 | NR1I2 | c.133G>A (p.Gly45Arg) c.*156G>A (n.*156G>A) c.250G>A (p.Gly84Arg) n.421G>A | gnomAD v4 |
3 | g.119807383G>C | CA354055893 | NR1I2 | c.133G>C (p.Gly45Arg) c.*156G>C (n.*156G>C) c.250G>C (p.Gly84Arg) n.421G>C | |
3 | g.119807383G>T | CA354055895 | NR1I2 | c.133G>T (p.Gly45Trp) c.*156G>T (n.*156G>T) c.250G>T (p.Gly84Trp) n.421G>T | |
3 | g.119807386dup | CA2667141654 | NR1I2 | c.136dup (p.Asp46GlyfsTer14) c.*159dup (n.*159dup) c.253dup (p.Asp85GlyfsTer14) n.424dup | gnomAD v4 |
3 | g.119807384G>A | CA2557740 | NR1I2 | c.134G>A (p.Gly45Glu) c.*157G>A (n.*157G>A) c.251G>A (p.Gly84Glu) n.422G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.119807384G>C | CA354055897 | NR1I2 | c.134G>C (p.Gly45Ala) c.*157G>C (n.*157G>C) c.251G>C (p.Gly84Ala) n.422G>C | |
3 | g.119807384G= | CA1396723511 | NR1I2 | c.134G= (p.Gly45=) c.*157G= (n.*157G=) c.251G= (p.Gly84=) n.422G= | |
3 | g.119807384G>T | CA354055898 | NR1I2 | c.134G>T (p.Gly45Val) c.*157G>T (n.*157G>T) c.251G>T (p.Gly84Val) n.422G>T | |
3 | g.119807385G>A | CA435219549 | NR1I2 | c.135G>A (p.Gly45=) c.*158G>A (n.*158G>A) c.252G>A (p.Gly84=) n.423G>A | dbSNP gnomAD v4 |
3 | g.119807385G>C | CA435219550 | NR1I2 | c.135G>C (p.Gly45=) c.*158G>C (n.*158G>C) c.252G>C (p.Gly84=) n.423G>C | |
3 | g.119807385G= | CA1396723512 | NR1I2 | c.135G= (p.Gly45=) c.*158G= (n.*158G=) c.252G= (p.Gly84=) n.423G= | |
3 | g.119807385G>T | CA435219551 | NR1I2 | c.135G>T (p.Gly45=) c.*158G>T (n.*158G>T) c.252G>T (p.Gly84=) n.423G>T | gnomAD v4 |
3 | g.119807386G>A | CA2557742 | NR1I2 | c.136G>A (p.Asp46Asn) c.*159G>A (n.*159G>A) c.253G>A (p.Asp85Asn) n.424G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807386G>C | CA354055902 | NR1I2 | c.136G>C (p.Asp46His) c.*159G>C (n.*159G>C) c.253G>C (p.Asp85His) n.424G>C | |
3 | g.119807386G= | CA1396723513 | NR1I2 | c.136G= (p.Asp46=) c.*159G= (n.*159G=) c.253G= (p.Asp85=) n.424G= | |
3 | g.119807386G>T | CA2557741 | NR1I2 | c.136G>T (p.Asp46Tyr) c.*159G>T (n.*159G>T) c.253G>T (p.Asp85Tyr) n.424G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807387A>C | CA354055904 | NR1I2 | c.137A>C (p.Asp46Ala) c.*160A>C (n.*160A>C) c.254A>C (p.Asp85Ala) n.425A>C | |
3 | g.119807387A>G | CA354055907 | NR1I2 | c.137A>G (p.Asp46Gly) c.*160A>G (n.*160A>G) c.254A>G (p.Asp85Gly) n.425A>G | |
3 | g.119807387A>T | CA354055908 | NR1I2 | c.137A>T (p.Asp46Val) c.*160A>T (n.*160A>T) c.254A>T (p.Asp85Val) n.425A>T | |
3 | g.119807388C>A | CA354055910 | NR1I2 | c.138C>A (p.Asp46Glu) c.*161C>A (n.*161C>A) c.255C>A (p.Asp85Glu) n.426C>A | |
3 | g.119807388C>G | CA354055912 | NR1I2 | c.138C>G (p.Asp46Glu) c.*161C>G (n.*161C>G) c.255C>G (p.Asp85Glu) n.426C>G | |
3 | g.119807388C>T | CA435219553 | NR1I2 | c.138C>T (p.Asp46=) c.*161C>T (n.*161C>T) c.255C>T (p.Asp85=) n.426C>T | gnomAD v3 gnomAD v4 |
3 | g.119807389A= | CA1396723514 | NR1I2 | c.139A= (p.Lys47=) c.*162A= (n.*162A=) c.256A= (p.Lys86=) n.427A= | |
3 | g.119807389A>C | CA354055917 | NR1I2 | c.139A>C (p.Lys47Gln) c.*162A>C (n.*162A>C) c.256A>C (p.Lys86Gln) n.427A>C | |
3 | g.119807389A>G | CA354055915 | NR1I2 | c.139A>G (p.Lys47Glu) c.*162A>G (n.*162A>G) c.256A>G (p.Lys86Glu) n.427A>G | |
3 | g.119807389A>T | CA354055913 | NR1I2 | c.139A>T (p.Lys47Ter) c.*162A>T (n.*162A>T) c.256A>T (p.Lys86Ter) n.427A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807390A>C | CA354055919 | NR1I2 | c.140A>C (p.Lys47Thr) c.*163A>C (n.*163A>C) c.257A>C (p.Lys86Thr) n.428A>C | COSMIC |
3 | g.119807390A>G | CA354055920 | NR1I2 | c.140A>G (p.Lys47Arg) c.*163A>G (n.*163A>G) c.257A>G (p.Lys86Arg) n.428A>G | dbSNP |
3 | g.119807390A>T | CA354055922 | NR1I2 | c.140A>T (p.Lys47Met) c.*163A>T (n.*163A>T) c.257A>T (p.Lys86Met) n.428A>T | |
3 | g.119807391G>A | CA2557743 | NR1I2 | c.141G>A (p.Lys47=) c.*164G>A (n.*164G>A) c.258G>A (p.Lys86=) n.429G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807391G>C | CA354055924 | NR1I2 | c.141G>C (p.Lys47Asn) c.*164G>C (n.*164G>C) c.258G>C (p.Lys86Asn) n.429G>C | |
3 | g.119807391G= | CA1396723515 | NR1I2 | c.141G= (p.Lys47=) c.*164G= (n.*164G=) c.258G= (p.Lys86=) n.429G= | |
3 | g.119807391G>T | CA354055926 | NR1I2 | c.141G>T (p.Lys47Asn) c.*164G>T (n.*164G>T) c.258G>T (p.Lys86Asn) n.429G>T | |
3 | g.119807392G>A | CA354055928 | NR1I2 | c.142G>A (p.Ala48Thr) c.*165G>A (n.*165G>A) c.259G>A (p.Ala87Thr) n.430G>A | |
3 | g.119807392G>C | CA354055931 | NR1I2 | c.142G>C (p.Ala48Pro) c.*165G>C (n.*165G>C) c.259G>C (p.Ala87Pro) n.430G>C | |
3 | g.119807392G>T | CA354055929 | NR1I2 | c.142G>T (p.Ala48Ser) c.*165G>T (n.*165G>T) c.259G>T (p.Ala87Ser) n.430G>T | |
3 | g.119807393C>A | CA354055932 | NR1I2 | c.143C>A (p.Ala48Asp) c.*166C>A (n.*166C>A) c.260C>A (p.Ala87Asp) n.431C>A | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807393C= | CA1396723516 | NR1I2 | c.143C= (p.Ala48=) c.*166C= (n.*166C=) c.260C= (p.Ala87=) n.431C= | |
3 | g.119807393C>G | CA354055934 | NR1I2 | c.143C>G (p.Ala48Gly) c.*166C>G (n.*166C>G) c.260C>G (p.Ala87Gly) n.431C>G | |
3 | g.119807393C>T | CA354055936 | NR1I2 | c.143C>T (p.Ala48Val) c.*166C>T (n.*166C>T) c.260C>T (p.Ala87Val) n.431C>T | gnomAD v4 |
3 | g.119807394C>A | CA435219556 | NR1I2 | c.144C>A (p.Ala48=) c.*167C>A (n.*167C>A) c.261C>A (p.Ala87=) n.432C>A | |
3 | g.119807394C>G | CA435219557 | NR1I2 | c.144C>G (p.Ala48=) c.*167C>G (n.*167C>G) c.261C>G (p.Ala87=) n.432C>G | |
3 | g.119807394C>T | CA435219558 | NR1I2 | c.144C>T (p.Ala48=) c.*167C>T (n.*167C>T) c.261C>T (p.Ala87=) n.432C>T | |
3 | g.119807395A>C | CA354055937 | NR1I2 | c.145A>C (p.Thr49Pro) c.*168A>C (n.*168A>C) c.262A>C (p.Thr88Pro) n.433A>C | |
3 | g.119807395A>G | CA354055939 | NR1I2 | c.145A>G (p.Thr49Ala) c.*168A>G (n.*168A>G) c.262A>G (p.Thr88Ala) n.433A>G | |
3 | g.119807395A>T | CA354055941 | NR1I2 | c.145A>T (p.Thr49Ser) c.*168A>T (n.*168A>T) c.262A>T (p.Thr88Ser) n.433A>T | |
3 | g.119807396C>A | CA354055943 | NR1I2 | c.146C>A (p.Thr49Asn) c.*169C>A (n.*169C>A) c.263C>A (p.Thr88Asn) n.434C>A | |
3 | g.119807396C>G | CA354055945 | NR1I2 | c.146C>G (p.Thr49Ser) c.*169C>G (n.*169C>G) c.263C>G (p.Thr88Ser) n.434C>G | |
3 | g.119807396C>T | CA354055947 | NR1I2 | c.146C>T (p.Thr49Ile) c.*169C>T (n.*169C>T) c.263C>T (p.Thr88Ile) n.434C>T | |
3 | g.119807397T>A | CA435219563 | NR1I2 | c.147T>A (p.Thr49=) c.*170T>A (n.*170T>A) c.264T>A (p.Thr88=) n.435T>A | |
3 | g.119807397T>C | CA435219562 | NR1I2 | c.147T>C (p.Thr49=) c.*170T>C (n.*170T>C) c.264T>C (p.Thr88=) n.435T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807397T>G | CA435219564 | NR1I2 | c.147T>G (p.Thr49=) c.*170T>G (n.*170T>G) c.264T>G (p.Thr88=) n.435T>G | |
3 | g.119807397T= | CA1396723517 | NR1I2 | c.147T= (p.Thr49=) c.*170T= (n.*170T=) c.264T= (p.Thr88=) n.435T= | |
3 | g.119807398G>A | CA354055948 | NR1I2 | c.148G>A (p.Gly50Ser) c.*171G>A (n.*171G>A) c.265G>A (p.Gly89Ser) n.436G>A | dbSNP COSMIC |
3 | g.119807398G>C | CA354055950 | NR1I2 | c.148G>C (p.Gly50Arg) c.*171G>C (n.*171G>C) c.265G>C (p.Gly89Arg) n.436G>C | |
3 | g.119807398G= | CA1396723518 | NR1I2 | c.148G= (p.Gly50=) c.*171G= (n.*171G=) c.265G= (p.Gly89=) n.436G= | |
3 | g.119807398G>T | CA2557744 | NR1I2 | c.148G>T (p.Gly50Cys) c.*171G>T (n.*171G>T) c.265G>T (p.Gly89Cys) n.436G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807399G>A | CA354055955 | NR1I2 | c.149G>A (p.Gly50Asp) c.*172G>A (n.*172G>A) c.266G>A (p.Gly89Asp) n.437G>A | |
3 | g.119807399G>C | CA354055953 | NR1I2 | c.149G>C (p.Gly50Ala) c.*172G>C (n.*172G>C) c.266G>C (p.Gly89Ala) n.437G>C | |
3 | g.119807399G= | CA1396723519 | NR1I2 | c.149G= (p.Gly50=) c.*172G= (n.*172G=) c.266G= (p.Gly89=) n.437G= | |
3 | g.119807399G>T | CA81750892 | NR1I2 | c.149G>T (p.Gly50Val) c.*172G>T (n.*172G>T) c.266G>T (p.Gly89Val) n.437G>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807400C>A | CA435219565 | NR1I2 | c.150C>A (p.Gly50=) c.*173C>A (n.*173C>A) c.267C>A (p.Gly89=) n.438C>A | |
3 | g.119807400C>G | CA435219567 | NR1I2 | c.150C>G (p.Gly50=) c.*173C>G (n.*173C>G) c.267C>G (p.Gly89=) n.438C>G | |
3 | g.119807400C>T | CA435219568 | NR1I2 | c.150C>T (p.Gly50=) c.*173C>T (n.*173C>T) c.267C>T (p.Gly89=) n.438C>T | |
3 | g.119807401T>A | CA354055957 | NR1I2 | c.151T>A (p.Tyr51Asn) c.*174T>A (n.*174T>A) c.268T>A (p.Tyr90Asn) n.439T>A | |
3 | g.119807401T>C | CA354055956 | NR1I2 | c.151T>C (p.Tyr51His) c.*174T>C (n.*174T>C) c.268T>C (p.Tyr90His) n.439T>C | |
3 | g.119807401T>G | CA354055958 | NR1I2 | c.151T>G (p.Tyr51Asp) c.*174T>G (n.*174T>G) c.268T>G (p.Tyr90Asp) n.439T>G | |
3 | g.119807402A= | CA1396723520 | NR1I2 | c.152A= (p.Tyr51=) c.*175A= (n.*175A=) c.269A= (p.Tyr90=) n.440A= | |
3 | g.119807402A>C | CA354055959 | NR1I2 | c.152A>C (p.Tyr51Ser) c.*175A>C (n.*175A>C) c.269A>C (p.Tyr90Ser) n.440A>C | |
3 | g.119807402A>G | CA354055960 | NR1I2 | c.152A>G (p.Tyr51Cys) c.*175A>G (n.*175A>G) c.269A>G (p.Tyr90Cys) n.440A>G | dbSNP gnomAD v4 |
3 | g.119807402A>T | CA354055962 | NR1I2 | c.152A>T (p.Tyr51Phe) c.*175A>T (n.*175A>T) c.269A>T (p.Tyr90Phe) n.440A>T | |
3 | g.119807403T>A | CA354055964 | NR1I2 | c.153T>A (p.Tyr51Ter) c.*176T>A (n.*176T>A) c.270T>A (p.Tyr90Ter) n.441T>A | |
3 | g.119807403T>C | CA435219569 | NR1I2 | c.153T>C (p.Tyr51=) c.*176T>C (n.*176T>C) c.270T>C (p.Tyr90=) n.441T>C | |
3 | g.119807403T>G | CA354055965 | NR1I2 | c.153T>G (p.Tyr51Ter) c.*176T>G (n.*176T>G) c.270T>G (p.Tyr90Ter) n.441T>G | |
3 | g.119807404C>A | CA354055967 | NR1I2 | c.154C>A (p.His52Asn) c.*177C>A (n.*177C>A) c.271C>A (p.His91Asn) n.442C>A | |
3 | g.119807404C= | CA1396723521 | NR1I2 | c.154C= (p.His52=) c.*177C= (n.*177C=) c.271C= (p.His91=) n.442C= | |
3 | g.119807404C>G | CA354055969 | NR1I2 | c.154C>G (p.His52Asp) c.*177C>G (n.*177C>G) c.271C>G (p.His91Asp) n.442C>G | |
3 | g.119807404C>T | CA354055971 | NR1I2 | c.154C>T (p.His52Tyr) c.*177C>T (n.*177C>T) c.271C>T (p.His91Tyr) n.442C>T | dbSNP |
3 | g.119807405A>C | CA354055972 | NR1I2 | c.155A>C (p.His52Pro) c.*178A>C (n.*178A>C) c.272A>C (p.His91Pro) n.443A>C | gnomAD v4 |
3 | g.119807405A>G | CA354055974 | NR1I2 | c.155A>G (p.His52Arg) c.*178A>G (n.*178A>G) c.272A>G (p.His91Arg) n.443A>G | |
3 | g.119807405A>T | CA354055975 | NR1I2 | c.155A>T (p.His52Leu) c.*178A>T (n.*178A>T) c.272A>T (p.His91Leu) n.443A>T | |
3 | g.119807406C>A | CA354055977 | NR1I2 | c.156C>A (p.His52Gln) c.*179C>A (n.*179C>A) c.273C>A (p.His91Gln) n.444C>A | |
3 | g.119807406C= | CA1396723522 | NR1I2 | c.156C= (p.His52=) c.*179C= (n.*179C=) c.273C= (p.His91=) n.444C= | |
3 | g.119807406C>G | CA354055979 | NR1I2 | c.156C>G (p.His52Gln) c.*179C>G (n.*179C>G) c.273C>G (p.His91Gln) n.444C>G | |
3 | g.119807406C>T | CA435219571 | NR1I2 | c.156C>T (p.His52=) c.*179C>T (n.*179C>T) c.273C>T (p.His91=) n.444C>T | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807407T>A | CA354055981 | NR1I2 | c.157T>A (p.Phe53Ile) c.*180T>A (n.*180T>A) c.274T>A (p.Phe92Ile) n.445T>A | |
3 | g.119807407T>C | CA354055984 | NR1I2 | c.157T>C (p.Phe53Leu) c.*180T>C (n.*180T>C) c.274T>C (p.Phe92Leu) n.445T>C | |
3 | g.119807407T>G | CA354055982 | NR1I2 | c.157T>G (p.Phe53Val) c.*180T>G (n.*180T>G) c.274T>G (p.Phe92Val) n.445T>G | |
3 | g.119807408T>A | CA354055985 | NR1I2 | c.158T>A (p.Phe53Tyr) c.*181T>A (n.*181T>A) c.275T>A (p.Phe92Tyr) n.446T>A | |
3 | g.119807408T>C | CA354055986 | NR1I2 | c.158T>C (p.Phe53Ser) c.*181T>C (n.*181T>C) c.275T>C (p.Phe92Ser) n.446T>C | |
3 | g.119807408T>G | CA354055987 | NR1I2 | c.158T>G (p.Phe53Cys) c.*181T>G (n.*181T>G) c.275T>G (p.Phe92Cys) n.446T>G | |
3 | g.119807409C>A | CA354055988 | NR1I2 | c.159C>A (p.Phe53Leu) c.*182C>A (n.*182C>A) c.276C>A (p.Phe92Leu) n.447C>A | |
3 | g.119807409C>G | CA354055989 | NR1I2 | c.159C>G (p.Phe53Leu) c.*182C>G (n.*182C>G) c.276C>G (p.Phe92Leu) n.447C>G | |
3 | g.119807409C>T | CA435219575 | NR1I2 | c.159C>T (p.Phe53=) c.*182C>T (n.*182C>T) c.276C>T (p.Phe92=) n.447C>T | |
3 | g.119807410A>C | CA354055990 | NR1I2 | c.160A>C (p.Asn54His) c.*183A>C (n.*183A>C) c.277A>C (p.Asn93His) n.448A>C | gnomAD v4 |
3 | g.119807410A>G | CA354055992 | NR1I2 | c.160A>G (p.Asn54Asp) c.*183A>G (n.*183A>G) c.277A>G (p.Asn93Asp) n.448A>G | |
3 | g.119807410A>T | CA354055993 | NR1I2 | c.160A>T (p.Asn54Tyr) c.*183A>T (n.*183A>T) c.277A>T (p.Asn93Tyr) n.448A>T | |
3 | g.119807411A= | CA1396723523 | NR1I2 | c.161A= (p.Asn54=) c.*184A= (n.*184A=) c.278A= (p.Asn93=) n.449A= | |
3 | g.119807411A>C | CA354055995 | NR1I2 | c.161A>C (p.Asn54Thr) c.*184A>C (n.*184A>C) c.278A>C (p.Asn93Thr) n.449A>C | |
3 | g.119807411A>G | CA354055996 | NR1I2 | c.161A>G (p.Asn54Ser) c.*184A>G (n.*184A>G) c.278A>G (p.Asn93Ser) n.449A>G | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807411A>T | CA354055998 | NR1I2 | c.161A>T (p.Asn54Ile) c.*184A>T (n.*184A>T) c.278A>T (p.Asn93Ile) n.449A>T | |
3 | g.119807412T>A | CA354056002 | NR1I2 | c.162T>A (p.Asn54Lys) c.*185T>A (n.*185T>A) c.279T>A (p.Asn93Lys) n.450T>A | |
3 | g.119807412T>C | CA435219576 | NR1I2 | c.162T>C (p.Asn54=) c.*185T>C (n.*185T>C) c.279T>C (p.Asn93=) n.450T>C | dbSNP gnomAD v4 |
3 | g.119807412T>G | CA354056000 | NR1I2 | c.162T>G (p.Asn54Lys) c.*185T>G (n.*185T>G) c.279T>G (p.Asn93Lys) n.450T>G | |
3 | g.119807412T= | CA1396723524 | NR1I2 | c.162T= (p.Asn54=) c.*185T= (n.*185T=) c.279T= (p.Asn93=) n.450T= | |
3 | g.119807413G>A | CA354056003 | NR1I2 | c.163G>A (p.Val55Ile) c.*186G>A (n.*186G>A) c.280G>A (p.Val94Ile) n.451G>A | gnomAD v4 |
3 | g.119807413G>C | CA354056004 | NR1I2 | c.163G>C (p.Val55Leu) c.*186G>C (n.*186G>C) c.280G>C (p.Val94Leu) n.451G>C | gnomAD v4 |
3 | g.119807413G>T | CA354056005 | NR1I2 | c.163G>T (p.Val55Phe) c.*186G>T (n.*186G>T) c.280G>T (p.Val94Phe) n.451G>T | |
3 | g.119807414T>A | CA354056006 | NR1I2 | c.164T>A (p.Val55Asp) c.*187T>A (n.*187T>A) c.281T>A (p.Val94Asp) n.452T>A | |
3 | g.119807414T>C | CA81750907 | NR1I2 | c.164T>C (p.Val55Ala) c.*187T>C (n.*187T>C) c.281T>C (p.Val94Ala) n.452T>C | dbSNP gnomAD v4 |
3 | g.119807414T>G | CA354056008 | NR1I2 | c.164T>G (p.Val55Gly) c.*187T>G (n.*187T>G) c.281T>G (p.Val94Gly) n.452T>G | gnomAD v4 |
3 | g.119807414T= | CA1396723525 | NR1I2 | c.164T= (p.Val55=) c.*187T= (n.*187T=) c.281T= (p.Val94=) n.452T= | |
3 | g.119807415C>A | CA435219580 | NR1I2 | c.165C>A (p.Val55=) c.*188C>A (n.*188C>A) c.282C>A (p.Val94=) n.453C>A | |
3 | g.119807415C= | CA1396723526 | NR1I2 | c.165C= (p.Val55=) c.*188C= (n.*188C=) c.282C= (p.Val94=) n.453C= | |
3 | g.119807415C>G | CA435219581 | NR1I2 | c.165C>G (p.Val55=) c.*188C>G (n.*188C>G) c.282C>G (p.Val94=) n.453C>G | |
3 | g.119807415C>T | CA435219582 | NR1I2 | c.165C>T (p.Val55=) c.*188C>T (n.*188C>T) c.282C>T (p.Val94=) n.453C>T | dbSNP |
3 | g.119807416A>C | CA354056010 | NR1I2 | c.166A>C (p.Met56Leu) c.*189A>C (n.*189A>C) c.283A>C (p.Met95Leu) n.454A>C | |
3 | g.119807416A>G | CA354056012 | NR1I2 | c.166A>G (p.Met56Val) c.*189A>G (n.*189A>G) c.283A>G (p.Met95Val) n.454A>G | |
3 | g.119807416A>T | CA354056013 | NR1I2 | c.166A>T (p.Met56Leu) c.*189A>T (n.*189A>T) c.283A>T (p.Met95Leu) n.454A>T | gnomAD v4 |
3 | g.119807417T>A | CA354056014 | NR1I2 | c.167T>A (p.Met56Lys) c.*190T>A (n.*190T>A) c.284T>A (p.Met95Lys) n.455T>A | |
3 | g.119807417T>C | CA2557745 | NR1I2 | c.167T>C (p.Met56Thr) c.*190T>C (n.*190T>C) c.284T>C (p.Met95Thr) n.455T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807417T>G | CA354056016 | NR1I2 | c.167T>G (p.Met56Arg) c.*190T>G (n.*190T>G) c.284T>G (p.Met95Arg) n.455T>G | |
3 | g.119807417T= | CA1396723527 | NR1I2 | c.167T= (p.Met56=) c.*190T= (n.*190T=) c.284T= (p.Met95=) n.455T= | |
3 | g.119807418G>A | CA354056019 | NR1I2 | c.168G>A (p.Met56Ile) c.*191G>A (n.*191G>A) c.285G>A (p.Met95Ile) n.456G>A | dbSNP |
3 | g.119807418G>C | CA354056023 | NR1I2 | c.168G>C (p.Met56Ile) c.*191G>C (n.*191G>C) c.285G>C (p.Met95Ile) n.456G>C | |
3 | g.119807418G= | CA1396723528 | NR1I2 | c.168G= (p.Met56=) c.*191G= (n.*191G=) c.285G= (p.Met95=) n.456G= | |
3 | g.119807418G>T | CA354056017 | NR1I2 | c.168G>T (p.Met56Ile) c.*191G>T (n.*191G>T) c.285G>T (p.Met95Ile) n.456G>T | |
3 | g.119807419A= | CA1396723529 | NR1I2 | c.169A= (p.Thr57=) c.*192A= (n.*192A=) c.286A= (p.Thr96=) n.457A= | |
3 | g.119807419A>C | CA354056025 | NR1I2 | c.169A>C (p.Thr57Pro) c.*192A>C (n.*192A>C) c.286A>C (p.Thr96Pro) n.457A>C | |
3 | g.119807419A>G | CA354056027 | NR1I2 | c.169A>G (p.Thr57Ala) c.*192A>G (n.*192A>G) c.286A>G (p.Thr96Ala) n.457A>G | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807419A>T | CA354056028 | NR1I2 | c.169A>T (p.Thr57Ser) c.*192A>T (n.*192A>T) c.286A>T (p.Thr96Ser) n.457A>T | |
3 | g.119807420C>A | CA354056030 | NR1I2 | c.170C>A (p.Thr57Lys) c.*193C>A (n.*193C>A) c.287C>A (p.Thr96Lys) n.458C>A | |
3 | g.119807420C>G | CA354056032 | NR1I2 | c.170C>G (p.Thr57Arg) c.*193C>G (n.*193C>G) c.287C>G (p.Thr96Arg) n.458C>G | |
3 | g.119807420C>T | CA354056033 | NR1I2 | c.170C>T (p.Thr57Ile) c.*193C>T (n.*193C>T) c.287C>T (p.Thr96Ile) n.458C>T | gnomAD v4 |
3 | g.119807421A>C | CA435219584 | NR1I2 | c.171A>C (p.Thr57=) c.*194A>C (n.*194A>C) c.288A>C (p.Thr96=) n.459A>C | |
3 | g.119807421A>G | CA435219585 | NR1I2 | c.171A>G (p.Thr57=) c.*194A>G (n.*194A>G) c.288A>G (p.Thr96=) n.459A>G | |
3 | g.119807421A>T | CA435219586 | NR1I2 | c.171A>T (p.Thr57=) c.*194A>T (n.*194A>T) c.288A>T (p.Thr96=) n.459A>T | |
3 | g.119807422T>A | CA354056035 | NR1I2 | c.172T>A (p.Cys58Ser) c.*195T>A (n.*195T>A) c.289T>A (p.Cys97Ser) n.460T>A | |
3 | g.119807422T>C | CA2557746 | NR1I2 | c.172T>C (p.Cys58Arg) c.*195T>C (n.*195T>C) c.289T>C (p.Cys97Arg) n.460T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807422T>G | CA354056036 | NR1I2 | c.172T>G (p.Cys58Gly) c.*195T>G (n.*195T>G) c.289T>G (p.Cys97Gly) n.460T>G | |
3 | g.119807422T= | CA1396723530 | NR1I2 | c.172T= (p.Cys58=) c.*195T= (n.*195T=) c.289T= (p.Cys97=) n.460T= | |
3 | g.119807423G>A | CA81750921 | NR1I2 | c.173G>A (p.Cys58Tyr) c.*196G>A (n.*196G>A) c.290G>A (p.Cys97Tyr) n.461G>A | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807423G>C | CA354056042 | NR1I2 | c.173G>C (p.Cys58Ser) c.*196G>C (n.*196G>C) c.290G>C (p.Cys97Ser) n.461G>C | |
3 | g.119807423G= | CA1396723531 | NR1I2 | c.173G= (p.Cys58=) c.*196G= (n.*196G=) c.290G= (p.Cys97=) n.461G= | |
3 | g.119807423G>T | CA354056044 | NR1I2 | c.173G>T (p.Cys58Phe) c.*196G>T (n.*196G>T) c.290G>T (p.Cys97Phe) n.461G>T | |
3 | g.119807424T>A | CA354056047 | NR1I2 | c.174T>A (p.Cys58Ter) c.*197T>A (n.*197T>A) c.291T>A (p.Cys97Ter) n.462T>A | |
3 | g.119807424T>C | CA435219588 | NR1I2 | c.174T>C (p.Cys58=) c.*197T>C (n.*197T>C) c.291T>C (p.Cys97=) n.462T>C | |
3 | g.119807424T>G | CA354056050 | NR1I2 | c.174T>G (p.Cys58Trp) c.*197T>G (n.*197T>G) c.291T>G (p.Cys97Trp) n.462T>G | |
3 | g.119807425G>A | CA2557747 | NR1I2 | c.175G>A (p.Glu59Lys) c.*198G>A (n.*198G>A) c.292G>A (p.Glu98Lys) n.463G>A | dbSNP ExAC gnomAD v2 |
3 | g.119807425G>C | CA354056052 | NR1I2 | c.175G>C (p.Glu59Gln) c.*198G>C (n.*198G>C) c.292G>C (p.Glu98Gln) n.463G>C | |
3 | g.119807425G= | CA1396723532 | NR1I2 | c.175G= (p.Glu59=) c.*198G= (n.*198G=) c.292G= (p.Glu98=) n.463G= | |
3 | g.119807425G>T | CA354056051 | NR1I2 | c.175G>T (p.Glu59Ter) c.*198G>T (n.*198G>T) c.292G>T (p.Glu98Ter) n.463G>T | |
3 | g.119807426A= | CA1396723533 | NR1I2 | c.176A= (p.Glu59=) c.*199A= (n.*199A=) c.293A= (p.Glu98=) n.464A= | |
3 | g.119807426A>C | CA354056053 | NR1I2 | c.176A>C (p.Glu59Ala) c.*199A>C (n.*199A>C) c.293A>C (p.Glu98Ala) n.464A>C | |
3 | g.119807426A>G | CA2557748 | NR1I2 | c.176A>G (p.Glu59Gly) c.*199A>G (n.*199A>G) c.293A>G (p.Glu98Gly) n.464A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807426A>T | CA354056055 | NR1I2 | c.176A>T (p.Glu59Val) c.*199A>T (n.*199A>T) c.293A>T (p.Glu98Val) n.464A>T | |
3 | g.119807427A= | CA1396723534 | NR1I2 | c.177A= (p.Glu59=) c.*200A= (n.*200A=) c.294A= (p.Glu98=) n.465A= | |
3 | g.119807427A>C | CA2557749 | NR1I2 | c.177A>C (p.Glu59Asp) c.*200A>C (n.*200A>C) c.294A>C (p.Glu98Asp) n.465A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807427A>G | CA435219589 | NR1I2 | c.177A>G (p.Glu59=) c.*200A>G (n.*200A>G) c.294A>G (p.Glu98=) n.465A>G | |
3 | g.119807427A>T | CA354056065 | NR1I2 | c.177A>T (p.Glu59Asp) c.*200A>T (n.*200A>T) c.294A>T (p.Glu98Asp) n.465A>T | |
3 | g.119807428G>A | CA2557750 | NR1I2 | c.178G>A (p.Gly60Arg) c.*201G>A (n.*201G>A) c.295G>A (p.Gly99Arg) n.466G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807428G>C | CA354056068 | NR1I2 | c.178G>C (p.Gly60Arg) c.*201G>C (n.*201G>C) c.295G>C (p.Gly99Arg) n.466G>C | |
3 | g.119807428G= | CA1396723535 | NR1I2 | c.178G= (p.Gly60=) c.*201G= (n.*201G=) c.295G= (p.Gly99=) n.466G= | |
3 | g.119807428G>T | CA354056069 | NR1I2 | c.178G>T (p.Gly60Ter) c.*201G>T (n.*201G>T) c.295G>T (p.Gly99Ter) n.466G>T | |
3 | g.119807429G>A | CA354056071 | NR1I2 | c.179G>A (p.Gly60Glu) c.*202G>A (n.*202G>A) c.296G>A (p.Gly99Glu) n.467G>A | dbSNP |
3 | g.119807429G>C | CA81750930 | NR1I2 | c.179G>C (p.Gly60Ala) c.*202G>C (n.*202G>C) c.296G>C (p.Gly99Ala) n.467G>C | dbSNP |
3 | g.119807429G= | CA1396723536 | NR1I2 | c.179G= (p.Gly60=) c.*202G= (n.*202G=) c.296G= (p.Gly99=) n.467G= | |
3 | g.119807429G>T | CA354056076 | NR1I2 | c.179G>T (p.Gly60Val) c.*202G>T (n.*202G>T) c.296G>T (p.Gly99Val) n.467G>T | |
3 | g.119807430A= | CA1396723537 | NR1I2 | c.180A= (p.Gly60=) c.*203A= (n.*203A=) c.297A= (p.Gly99=) n.468A= | |
3 | g.119807430A>C | CA435219590 | NR1I2 | c.180A>C (p.Gly60=) c.*203A>C (n.*203A>C) c.297A>C (p.Gly99=) n.468A>C | |
3 | g.119807430A>G | CA435219591 | NR1I2 | c.180A>G (p.Gly60=) c.*203A>G (n.*203A>G) c.297A>G (p.Gly99=) n.468A>G | |
3 | g.119807430A>T | CA435219592 | NR1I2 | c.180A>T (p.Gly60=) c.*203A>T (n.*203A>T) c.297A>T (p.Gly99=) n.468A>T | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807431T>A | CA354056078 | NR1I2 | c.181T>A (p.Cys61Ser) c.*204T>A (n.*204T>A) c.298T>A (p.Cys100Ser) n.469T>A | |
3 | g.119807431T>C | CA354056081 | NR1I2 | c.181T>C (p.Cys61Arg) c.*204T>C (n.*204T>C) c.298T>C (p.Cys100Arg) n.469T>C | |
3 | g.119807431T>G | CA354056082 | NR1I2 | c.181T>G (p.Cys61Gly) c.*204T>G (n.*204T>G) c.298T>G (p.Cys100Gly) n.469T>G | |
3 | g.119807432G>A | CA354056083 | NR1I2 | c.182G>A (p.Cys61Tyr) c.*205G>A (n.*205G>A) c.299G>A (p.Cys100Tyr) n.470G>A | |
3 | g.119807432G>C | CA354056084 | NR1I2 | c.182G>C (p.Cys61Ser) c.*205G>C (n.*205G>C) c.299G>C (p.Cys100Ser) n.470G>C | |
3 | g.119807432G>T | CA354056085 | NR1I2 | c.182G>T (p.Cys61Phe) c.*205G>T (n.*205G>T) c.299G>T (p.Cys100Phe) n.470G>T | |
3 | g.119807433C>A | CA354056089 | NR1I2 | c.183C>A (p.Cys61Ter) c.*206C>A (n.*206C>A) c.300C>A (p.Cys100Ter) n.471C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807433C= | CA1396723538 | NR1I2 | c.183C= (p.Cys61=) c.*206C= (n.*206C=) c.300C= (p.Cys100=) n.471C= | |
3 | g.119807433C>G | CA354056086 | NR1I2 | c.183C>G (p.Cys61Trp) c.*206C>G (n.*206C>G) c.300C>G (p.Cys100Trp) n.471C>G | |
3 | g.119807433C>T | CA435219593 | NR1I2 | c.183C>T (p.Cys61=) c.*206C>T (n.*206C>T) c.300C>T (p.Cys100=) n.471C>T | gnomAD v4 |
3 | g.119807434A>C | CA354056091 | NR1I2 | c.184A>C (p.Lys62Gln) c.*207A>C (n.*207A>C) c.301A>C (p.Lys101Gln) n.472A>C | |
3 | g.119807434A>G | CA354056097 | NR1I2 | c.184A>G (p.Lys62Glu) c.*207A>G (n.*207A>G) c.301A>G (p.Lys101Glu) n.472A>G | |
3 | g.119807434A>T | CA354056105 | NR1I2 | c.184A>T (p.Lys62Ter) c.*207A>T (n.*207A>T) c.301A>T (p.Lys101Ter) n.472A>T | |
3 | g.119807435del | CA2537406521 | NR1I2 | c.185del (p.Lys62ArgfsTer8) c.*208del (n.*208del) c.302del (p.Lys101ArgfsTer8) n.473del | |
3 | g.119807435A>C | CA354056108 | NR1I2 | c.185A>C (p.Lys62Thr) c.*208A>C (n.*208A>C) c.302A>C (p.Lys101Thr) n.473A>C | |
3 | g.119807435A>G | CA354056113 | NR1I2 | c.185A>G (p.Lys62Arg) c.*208A>G (n.*208A>G) c.302A>G (p.Lys101Arg) n.473A>G | |
3 | g.119807435A>T | CA354056114 | NR1I2 | c.185A>T (p.Lys62Met) c.*208A>T (n.*208A>T) c.302A>T (p.Lys101Met) n.473A>T | |
3 | g.119807436G>A | CA2557751 | NR1I2 | c.186G>A (p.Lys62=) c.*209G>A (n.*209G>A) c.303G>A (p.Lys101=) n.474G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.119807436G>C | CA354056117 | NR1I2 | c.186G>C (p.Lys62Asn) c.*209G>C (n.*209G>C) c.303G>C (p.Lys101Asn) n.474G>C | dbSNP gnomAD v3 gnomAD v4 |
3 | g.119807436G= | CA1396723539 | NR1I2 | c.186G= (p.Lys62=) c.*209G= (n.*209G=) c.303G= (p.Lys101=) n.474G= | |
3 | g.119807436G>T | CA354056123 | NR1I2 | c.186G>T (p.Lys62Asn) c.*209G>T (n.*209G>T) c.303G>T (p.Lys101Asn) n.474G>T | |
3 | g.119807436_119807437delinsAA | CA645534828 | NR1I2 | c.186_187delinsAA (p.Gly63Ser) c.*209_*210delinsAA (n.*209_*210delinsAA) c.303_304delinsAA (p.Gly102Ser) n.474_475delinsAA | COSMIC |
3 | g.119807437G>A | CA354056125 | NR1I2 | c.187G>A (p.Gly63Ser) c.*210G>A (n.*210G>A) c.304G>A (p.Gly102Ser) n.475G>A | |
3 | g.119807437G>C | CA354056127 | NR1I2 | c.187G>C (p.Gly63Arg) c.*210G>C (n.*210G>C) c.304G>C (p.Gly102Arg) n.475G>C | |
3 | g.119807437G>T | CA354056129 | NR1I2 | c.187G>T (p.Gly63Cys) c.*210G>T (n.*210G>T) c.304G>T (p.Gly102Cys) n.475G>T | |
3 | g.119807438G>A | CA354056135 | NR1I2 | c.188G>A (p.Gly63Asp) c.*211G>A (n.*211G>A) c.305G>A (p.Gly102Asp) n.476G>A | dbSNP |
3 | g.119807438G>C | CA354056133 | NR1I2 | c.188G>C (p.Gly63Ala) c.*211G>C (n.*211G>C) c.305G>C (p.Gly102Ala) n.476G>C | |
3 | g.119807438G= | CA1396723540 | NR1I2 | c.188G= (p.Gly63=) c.*211G= (n.*211G=) c.305G= (p.Gly102=) n.476G= | |
3 | g.119807438G>T | CA354056131 | NR1I2 | c.188G>T (p.Gly63Val) c.*211G>T (n.*211G>T) c.305G>T (p.Gly102Val) n.476G>T | |
3 | g.119807439C>A | CA435219598 | NR1I2 | c.189C>A (p.Gly63=) c.*212C>A (n.*212C>A) c.306C>A (p.Gly102=) n.477C>A | |
3 | g.119807439C= | CA1396723541 | NR1I2 | c.189C= (p.Gly63=) c.*212C= (n.*212C=) c.306C= (p.Gly102=) n.477C= | |
3 | g.119807439C>G | CA435219600 | NR1I2 | c.189C>G (p.Gly63=) c.*212C>G (n.*212C>G) c.306C>G (p.Gly102=) n.477C>G | |
3 | g.119807439C>T | CA435219599 | NR1I2 | c.189C>T (p.Gly63=) c.*212C>T (n.*212C>T) c.306C>T (p.Gly102=) n.477C>T | dbSNP |
3 | g.119807440T>A | CA354056137 | NR1I2 | c.190T>A (p.Phe64Ile) c.*213T>A (n.*213T>A) c.307T>A (p.Phe103Ile) n.478T>A | |
3 | g.119807440T>C | CA354056138 | NR1I2 | c.190T>C (p.Phe64Leu) c.*213T>C (n.*213T>C) c.307T>C (p.Phe103Leu) n.478T>C | |
3 | g.119807440T>G | CA354056139 | NR1I2 | c.190T>G (p.Phe64Val) c.*213T>G (n.*213T>G) c.307T>G (p.Phe103Val) n.478T>G | |
3 | g.119807441T>A | CA354056140 | NR1I2 | c.191T>A (p.Phe64Tyr) c.*214T>A (n.*214T>A) c.308T>A (p.Phe103Tyr) n.479T>A | gnomAD v4 |
3 | g.119807441T>C | CA354056141 | NR1I2 | c.191T>C (p.Phe64Ser) c.*214T>C (n.*214T>C) c.308T>C (p.Phe103Ser) n.479T>C | dbSNP |
3 | g.119807441T>G | CA354056142 | NR1I2 | c.191T>G (p.Phe64Cys) c.*214T>G (n.*214T>G) c.308T>G (p.Phe103Cys) n.479T>G | |
3 | g.119807441T= | CA1396723542 | NR1I2 | c.191T= (p.Phe64=) c.*214T= (n.*214T=) c.308T= (p.Phe103=) n.479T= | |
3 | g.119807442T>A | CA354056144 | NR1I2 | c.192T>A (p.Phe64Leu) c.*215T>A (n.*215T>A) c.309T>A (p.Phe103Leu) n.480T>A | |
3 | g.119807442T>C | CA435219603 | NR1I2 | c.192T>C (p.Phe64=) c.*215T>C (n.*215T>C) c.309T>C (p.Phe103=) n.480T>C | gnomAD v4 |
3 | g.119807442T>G | CA354056145 | NR1I2 | c.192T>G (p.Phe64Leu) c.*215T>G (n.*215T>G) c.309T>G (p.Phe103Leu) n.480T>G | |
3 | g.119807443T>A | CA354056146 | NR1I2 | c.193T>A (p.Phe65Ile) c.*216T>A (n.*216T>A) c.310T>A (p.Phe104Ile) n.481T>A | |
3 | g.119807443T>C | CA354056147 | NR1I2 | c.193T>C (p.Phe65Leu) c.*216T>C (n.*216T>C) c.310T>C (p.Phe104Leu) n.481T>C | dbSNP gnomAD v2 gnomAD v4 |
3 | g.119807443T>G | CA354056148 | NR1I2 | c.193T>G (p.Phe65Val) c.*216T>G (n.*216T>G) c.310T>G (p.Phe104Val) n.481T>G | |
3 | g.119807443T= | CA1396723543 | NR1I2 | c.193T= (p.Phe65=) c.*216T= (n.*216T=) c.310T= (p.Phe104=) n.481T= | |
3 | g.119807444T>A | CA354056151 | NR1I2 | c.194T>A (p.Phe65Tyr) c.*217T>A (n.*217T>A) c.311T>A (p.Phe104Tyr) n.482T>A | |
3 | g.119807444T>C | CA354056150 | NR1I2 | c.194T>C (p.Phe65Ser) c.*217T>C (n.*217T>C) c.311T>C (p.Phe104Ser) n.482T>C | |
3 | g.119807444T>G | CA354056149 | NR1I2 | c.194T>G (p.Phe65Cys) c.*217T>G (n.*217T>G) c.311T>G (p.Phe104Cys) n.482T>G | |
3 | g.119807445C>A | CA354056152 | NR1I2 | c.195C>A (p.Phe65Leu) c.*218C>A (n.*218C>A) c.312C>A (p.Phe104Leu) n.483C>A | |
3 | g.119807445C= | CA1396723544 | NR1I2 | c.195C= (p.Phe65=) c.*218C= (n.*218C=) c.312C= (p.Phe104=) n.483C= | |
3 | g.119807445C>G | CA2557752 | NR1I2 | c.195C>G (p.Phe65Leu) c.*218C>G (n.*218C>G) c.312C>G (p.Phe104Leu) n.483C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.119807445C>T | CA435219604 | NR1I2 | c.195C>T (p.Phe65=) c.*218C>T (n.*218C>T) c.312C>T (p.Phe104=) n.483C>T | |
3 | g.119807446A>C | CA435219605 | NR1I2 | c.196A>C (p.Arg66=) c.*219A>C (n.*219A>C) c.313A>C (p.Arg105=) n.484A>C | |
3 | g.119807446A>G | CA354056153 | NR1I2 | c.196A>G (p.Arg66Gly) c.*219A>G (n.*219A>G) c.313A>G (p.Arg105Gly) n.484A>G | |
3 | g.119807446A>T | CA354056154 | NR1I2 | c.196A>T (p.Arg66Trp) c.*219A>T (n.*219A>T) c.313A>T (p.Arg105Trp) n.484A>T | |
3 | g.119807447G>A | CA354056158 | NR1I2 | c.197G>A (p.Arg66Lys) c.*220G>A (n.*220G>A) c.314G>A (p.Arg105Lys) n.485G>A | |
3 | g.119807447G>C | CA354056159 | NR1I2 | c.197G>C (p.Arg66Thr) c.*220G>C (n.*220G>C) c.314G>C (p.Arg105Thr) n.485G>C | dbSNP |
3 | g.119807447G= | CA1396723545 | NR1I2 | c.197G= (p.Arg66=) c.*220G= (n.*220G=) c.314G= (p.Arg105=) n.485G= | |
3 | g.119807447G>T | CA354056160 | NR1I2 | c.197G>T (p.Arg66Met) c.*220G>T (n.*220G>T) c.314G>T (p.Arg105Met) n.485G>T | gnomAD v4 COSMIC |