Locus namea | refSNP variation ID | Position (bp) | Allelea,b | Locus | Amino Acidc | RAFd,e | p –valuee | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
UMD3.1 | Btau4.6 | Ref | Alt | IMP | Inosine | Hypoxanthine | |||||
g.-622_-621insTTA | rs136113688 | 64,930,537 | 66,286,784 | TTA | – | 5′-upstream | 0.44 | 4.2 × 10−13 | 4.1 × 10−3 | 3.9 × 10−6 | |
g.-82G > A | rs384428520 | 64,929,995 | 66,286,242 | G | A | 5′-upstream | 0.42 | 2.2 × 10−14 | 1.5 × 10−3 | 9.4 × 10−6 | |
g.-17G > T | rs132959237 | 64,929,930 | 66,286,177 | G | T | Exon 1 (5′-UTR) | 0.65 | 8.8 × 10−23 | 9.7 × 10−12 | 1.7 × 10−11 | |
c.1044C > T | rs135498711 | 64,860,563 | 66,224,147 | C | T | Exon 5 | p.Gly348Gly | – | – | – | – |
c.1318C > T | rs207860446 | 64,864,545 | 66,220,165 | C | T | Exon 7 | p.His440Tyr | 0.58 | 5.4 × 10−32 | 4.6 × 10−16 | 2.3 × 10−12 |
c.1475 T > A | rs42508588 | 64,866,290 | 66,218,420 | T | A | Exon 8 | p.Val492Glu | 0.58 | 5.4 × 10−32 | 4.6 × 10−16 | 2.3 × 10−12 |
c.1526A > G | rs42508587 | 64,866,341 | 66,218,369 | A | G | Exon 8 | p.Gln509Arg | 0.56 | 8.2 × 10−31 | 1.5 × 10−13 | 1.0 × 10−12 |
c.3060C > T | rs132797079 | 64,871,310 | 66,213,400 | C | T | Exon 9 (3′-UTR) | 0.60 | 3.0 × 10−30 | 5.4 × 10−16 | 3.2 × 10−12 | |
c.3098A > G | rs210179001 | 64,871,348 | 66,213,362 | A | G | Exon 9 (3′-UTR) | 0.56 | 1.1 × 10−32 | 1.2 × 10−13 | 9.6 × 10−13 |