| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.98934996G>T | CA393658383 | IGF1R | c.3126G>T (p.Glu1042Asp) c.3129G>T (p.Glu1043Asp) c.260-320G>T (n.260-320G>T) c.3192G>T (p.Glu1064Asp) c.3189G>T (p.Glu1063Asp) c.2220G>T (p.Glu740Asp) c.1794G>T (p.Glu598Asp) c.3204G>T (p.Glu1068Asp) c.3201G>T (p.Glu1067Asp) c.2766G>T (p.Glu922Asp) | dbSNP |
| 15 | g.98934996G>A | CA201258 | IGF1R | c.3126G>A (p.Glu1042=) c.3129G>A (p.Glu1043=) c.260-320G>A (n.260-320G>A) c.3192G>A (p.Glu1064=) c.3189G>A (p.Glu1063=) c.2220G>A (p.Glu740=) c.1794G>A (p.Glu598=) c.3204G>A (p.Glu1068=) c.3201G>A (p.Glu1067=) c.2766G>A (p.Glu922=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.98934996G= | CA2199274896 | IGF1R | c.3126G= (p.Glu1042=) c.3129G= (p.Glu1043=) c.260-320G= (n.260-320G=) c.3192G= (p.Glu1064=) c.3189G= (p.Glu1063=) c.2220G= (p.Glu740=) c.1794G= (p.Glu598=) c.3204G= (p.Glu1068=) c.3201G= (p.Glu1067=) c.2766G= (p.Glu922=) | dbSNP |
| 15 | g.98934996G>C | CA393658384 | IGF1R | c.3126G>C (p.Glu1042Asp) c.3129G>C (p.Glu1043Asp) c.260-320G>C (n.260-320G>C) c.3192G>C (p.Glu1064Asp) c.3189G>C (p.Glu1063Asp) c.2220G>C (p.Glu740Asp) c.1794G>C (p.Glu598Asp) c.3204G>C (p.Glu1068Asp) c.3201G>C (p.Glu1067Asp) c.2766G>C (p.Glu922Asp) | dbSNP |