| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |