| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137834397C>T | CA345063 | EHMT1 | c.3589C>T (p.Arg1197Trp) c.3496C>T (p.Arg1166Trp) c.4163C>T (n.4163C>T) n.570C>T c.1663C>T (n.1663C>T) c.2398-12163C>T (n.2398-12163C>T) n.361C>T n.1313C>T n.319C>T n.942C>T c.3580C>T (p.Arg1194Trp) c.3571C>T (p.Arg1191Trp) c.3598C>T (p.Arg1200Trp) c.3595C>T (p.Arg1199Trp) c.3577C>T (p.Arg1193Trp) c.3520C>T (p.Arg1174Trp) c.3454C>T (p.Arg1152Trp) c.2020C>T (p.Arg674Trp) c.1372C>T (p.Arg458Trp) c.1159C>T (p.Arg387Trp) c.3433C>T (p.Arg1145Trp) c.3568C>T (p.Arg1190Trp) c.3574C>T (p.Arg1192Trp) c.3490C>T (p.Arg1164Trp) c.3475C>T (p.Arg1159Trp) c.3418C>T (p.Arg1140Trp) c.3352C>T (p.Arg1118Trp) c.2713C>T (p.Arg905Trp) c.3331C>T (p.Arg1111Trp) | ClinVar dbSNP |
| 9 | g.137834397C= | CA1884697318 | EHMT1 | c.3589C= (p.Arg1197=) c.3496C= (p.Arg1166=) c.4163C= (n.4163C=) n.570C= c.1663C= (n.1663C=) c.2398-12163C= (n.2398-12163C=) n.361C= n.1313C= n.319C= n.942C= c.3580C= (p.Arg1194=) c.3571C= (p.Arg1191=) c.3598C= (p.Arg1200=) c.3595C= (p.Arg1199=) c.3577C= (p.Arg1193=) c.3520C= (p.Arg1174=) c.3454C= (p.Arg1152=) c.2020C= (p.Arg674=) c.1372C= (p.Arg458=) c.1159C= (p.Arg387=) c.3433C= (p.Arg1145=) c.3568C= (p.Arg1190=) c.3574C= (p.Arg1192=) c.3490C= (p.Arg1164=) c.3475C= (p.Arg1159=) c.3418C= (p.Arg1140=) c.3352C= (p.Arg1118=) c.2713C= (p.Arg905=) c.3331C= (p.Arg1111=) | dbSNP |