| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.72106094G>A | CA251495 | LRRC51,LRTOMT,TOMT | c.143G>A (p.Arg48Gln) c.438-2511G>A (n.438-2511G>A) c.111G>A (p.Ala37=) c.242G>A (p.Arg81Gln) c.122G>A (p.Arg41Gln) c.645G>A (p.Ala215=) n.300G>A c.525G>A (p.Ala175=) c.467G>A (p.Arg156Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.72106094G>C | CA381717740 | LRRC51,LRTOMT,TOMT | c.143G>C (p.Arg48Pro) c.438-2511G>C (n.438-2511G>C) c.111G>C (p.Ala37=) c.242G>C (p.Arg81Pro) c.122G>C (p.Arg41Pro) c.645G>C (p.Ala215=) n.300G>C c.525G>C (p.Ala175=) c.467G>C (p.Arg156Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.72106094G= | CA1981839908 | LRRC51,LRTOMT,TOMT | c.143G= (p.Arg48=) c.438-2511G= (n.438-2511G=) c.111G= (p.Ala37=) c.242G= (p.Arg81=) c.122G= (p.Arg41=) c.645G= (p.Ala215=) n.300G= c.525G= (p.Ala175=) c.467G= (p.Arg156=) | dbSNP |