| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.11034651G>A | CA10602860 | SLC6A1 | c.1720G>A (p.Gly574Arg) c.1648G>A (p.Gly550Arg) n.1670G>A c.1288G>A (p.Gly430Arg) c.1675G>A (p.Gly559Arg) c.1114G>A (p.Gly372Arg) c.1442G>A c.1225G>A (p.Gly409Arg) n.701G>A n.4016G>A c.1079-2910G>A (n.1079-2910G>A) n.624G>A | ClinVar dbSNP |
| 3 | g.11034651G>C | CA16604437 | SLC6A1 | c.1720G>C (p.Gly574Arg) c.1648G>C (p.Gly550Arg) n.1670G>C c.1288G>C (p.Gly430Arg) c.1675G>C (p.Gly559Arg) c.1114G>C (p.Gly372Arg) c.1442G>C c.1225G>C (p.Gly409Arg) n.701G>C n.4016G>C c.1079-2910G>C (n.1079-2910G>C) n.624G>C | ClinVar dbSNP |
| 3 | g.11034651G>T | CA351792104 | SLC6A1 | c.1720G>T (p.Gly574Trp) c.1648G>T (p.Gly550Trp) n.1670G>T c.1288G>T (p.Gly430Trp) c.1675G>T (p.Gly559Trp) c.1114G>T (p.Gly372Trp) c.1442G>T c.1225G>T (p.Gly409Trp) n.701G>T n.4016G>T c.1079-2910G>T (n.1079-2910G>T) n.624G>T | dbSNP gnomAD v4 |
| 3 | g.11034651G= | CA1345481504 | SLC6A1 | c.1720G= (p.Gly574=) c.1648G= (p.Gly550=) n.1670G= c.1288G= (p.Gly430=) c.1675G= (p.Gly559=) c.1114G= (p.Gly372=) c.1442G= c.1225G= (p.Gly409=) n.701G= n.4016G= c.1079-2910G= (n.1079-2910G=) n.624G= | dbSNP |