| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.193643996G>A | CA275012 | OPA1 | c.1499G>A (p.Arg500His) c.1334G>A (p.Arg445His) c.1445G>A (p.Arg482His) c.1388G>A (p.Arg463His) c.1273G>A c.1016G>A (p.Arg339His) c.*1415G>A (n.*1415G>A) c.994G>A c.962G>A (p.Arg321His) c.1303G>A c.1349G>A (p.Arg450His) c.*812G>A (n.*812G>A) c.1522G>A (p.Ala508Thr) c.322G>A c.1226G>A (p.Arg409His) c.1337G>A (p.Arg446His) c.1391G>A (p.Arg464His) n.530G>A c.1280G>A (p.Arg427His) c.965G>A (p.Arg322His) n.1728G>A n.1563G>A | ClinVar dbSNP |
| 3 | g.193643996G>C | CA355789734 | OPA1 | c.1499G>C (p.Arg500Pro) c.1334G>C (p.Arg445Pro) c.1445G>C (p.Arg482Pro) c.1388G>C (p.Arg463Pro) c.1273G>C c.1016G>C (p.Arg339Pro) c.*1415G>C (n.*1415G>C) c.994G>C c.962G>C (p.Arg321Pro) c.1303G>C c.1349G>C (p.Arg450Pro) c.*812G>C (n.*812G>C) c.1522G>C (p.Ala508Pro) c.322G>C c.1226G>C (p.Arg409Pro) c.1337G>C (p.Arg446Pro) c.1391G>C (p.Arg464Pro) n.530G>C c.1280G>C (p.Arg427Pro) c.965G>C (p.Arg322Pro) n.1728G>C n.1563G>C | ClinVar dbSNP |
| 3 | g.193643996G= | CA1430245836 | OPA1 | c.1499G= (p.Arg500=) c.1334G= (p.Arg445=) c.1445G= (p.Arg482=) c.1388G= (p.Arg463=) c.1273G= c.1016G= (p.Arg339=) c.*1415G= (n.*1415G=) c.994G= c.962G= (p.Arg321=) c.1303G= c.1349G= (p.Arg450=) c.*812G= (n.*812G=) c.1522G= (p.Ala508=) c.322G= c.1226G= (p.Arg409=) c.1337G= (p.Arg446=) c.1391G= (p.Arg464=) n.530G= c.1280G= (p.Arg427=) c.965G= (p.Arg322=) n.1728G= n.1563G= | dbSNP |