| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.56555740C>T | CA3867934 | DST | c.7850G>A (p.Arg2617His) c.8384G>A (p.Arg2795His) c.7970G>A (p.Arg2657His) n.712G>A c.14741G>A (p.Arg4914His) c.6872G>A (p.Arg2291His) c.14108G>A (p.Arg4703His) n.450G>A c.14642G>A (p.Arg4881His) c.14456G>A (p.Arg4819His) c.14327G>A (p.Arg4776His) c.14228G>A (p.Arg4743His) c.14207G>A (p.Arg4736His) c.14186G>A (p.Arg4729His) c.13130G>A (p.Arg4377His) c.14669G>A (p.Arg4890His) c.8411G>A (p.Arg2804His) c.14768G>A (p.Arg4923His) c.14705G>A (p.Arg4902His) c.14534G>A (p.Arg4845His) c.14144G>A (p.Arg4715His) c.9335G>A (p.Arg3112His) c.8510G>A (p.Arg2837His) c.8276G>A (p.Arg2759His) c.8198G>A (p.Arg2733His) c.14087G>A (p.Arg4696His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.56555740C= | CA1630147875 | DST | c.7850G= (p.Arg2617=) c.8384G= (p.Arg2795=) c.7970G= (p.Arg2657=) n.712G= c.14741G= (p.Arg4914=) c.6872G= (p.Arg2291=) c.14108G= (p.Arg4703=) n.450G= c.14642G= (p.Arg4881=) c.14456G= (p.Arg4819=) c.14327G= (p.Arg4776=) c.14228G= (p.Arg4743=) c.14207G= (p.Arg4736=) c.14186G= (p.Arg4729=) c.13130G= (p.Arg4377=) c.14669G= (p.Arg4890=) c.8411G= (p.Arg2804=) c.14768G= (p.Arg4923=) c.14705G= (p.Arg4902=) c.14534G= (p.Arg4845=) c.14144G= (p.Arg4715=) c.9335G= (p.Arg3112=) c.8510G= (p.Arg2837=) c.8276G= (p.Arg2759=) c.8198G= (p.Arg2733=) c.14087G= (p.Arg4696=) | dbSNP |