| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.61783884T>C | CA6038336 | MYRF,TMEM258 | c.3153T>C (p.Ser1051=) c.2518T>C c.903T>C (p.Ser301=) c.139T>C c.3033T>C (p.Ser1011=) c.1311T>C (p.Ser437=) n.249-4801A>G n.1698T>C c.3156T>C (p.Ser1052=) c.3141T>C (p.Ser1047=) c.3138T>C (p.Ser1046=) c.3075T>C (p.Ser1025=) c.3072T>C (p.Ser1024=) c.3060T>C (p.Ser1020=) c.3003T>C (p.Ser1001=) c.2553T>C (p.Ser851=) c.2715T>C (p.Ser905=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.61783884T>G | CA222938550 | MYRF,TMEM258 | c.3153T>G (p.Ser1051Arg) c.2518T>G c.903T>G (p.Ser301Arg) c.139T>G c.3033T>G (p.Ser1011Arg) c.1311T>G (p.Ser437Arg) n.249-4801A>C n.1698T>G c.3156T>G (p.Ser1052Arg) c.3141T>G (p.Ser1047Arg) c.3138T>G (p.Ser1046Arg) c.3075T>G (p.Ser1025Arg) c.3072T>G (p.Ser1024Arg) c.3060T>G (p.Ser1020Arg) c.3003T>G (p.Ser1001Arg) c.2553T>G (p.Ser851Arg) c.2715T>G (p.Ser905Arg) | dbSNP |
| 11 | g.61783884T>A | CA222938544 | MYRF,TMEM258 | c.3153T>A (p.Ser1051Arg) c.2518T>A c.903T>A (p.Ser301Arg) c.139T>A c.3033T>A (p.Ser1011Arg) c.1311T>A (p.Ser437Arg) n.249-4801A>T n.1698T>A c.3156T>A (p.Ser1052Arg) c.3141T>A (p.Ser1047Arg) c.3138T>A (p.Ser1046Arg) c.3075T>A (p.Ser1025Arg) c.3072T>A (p.Ser1024Arg) c.3060T>A (p.Ser1020Arg) c.3003T>A (p.Ser1001Arg) c.2553T>A (p.Ser851Arg) c.2715T>A (p.Ser905Arg) | dbSNP |