Chr | Chr_pos | Ref | Alt | Gene | Acc.No. | SNP | Codon | aa subst. |
---|---|---|---|---|---|---|---|---|
13 | 51,640,322 | C | T | ATRN | NM_173995.3 | c.1573C > T | Gat/Aat | p.D525NN |
23 | 41,483,931 | G | C | DTNBP1 | NM_001045947.1 | c.871G > C | Gcc/Ccc | p.A291P |
26 | 22,870,530 | A | G | ELOVL3 | NM_001192306.1 | c.73A > G | Aac/Gac | p.N25D |
12 | 23,298,094 | C | T | FREM2 | XM_002691799.5 | c.9260C > T | aGg/aAg | p.R3087K |
12 | 23,336,198 | G | T | FREM2 | XM_002691799.5 | c.6042G > T | gaC/gaA | p.D2014E |
17 | 71,465,091 | T | C | GGT1 | NM_001206214.1 | c.100 T > C | Agc/Ggc | p.S34G |
28 | 4,036,781 | G | A | GNPAT | NM_001103286.1 | c.1462G > A | Gtt/Att | p.V488I |
X | 37,080,066 | C | T | L1CAM | NM_001192435.1 | c.2722C > T | Ggg/Agg | p.G908R |
28 | 8,475,854 | A | C | LYST | NM_174020.2 | c.5337A > C | ttA/ttC | p.L1779F |
18 | 14,705,518 | T | C | MC1R | NM_174108.2 | c.143 T > C | cTg/cCg | p.L48P |
11 | 103,981,017 | T | G | NOTCH1 | XM_024999642.1 | c.43 T > G | Aca/Cca | p.T15P |
3 | 13,984,639 | T | C | NTRK1 | XM_024989930.1 | c.55 T > C | Agg/Ggg | p.R19G |
5 | 57,353,185 | T | C | PMEL | NM_001080215.2 | c.1873 T > C | Tgg/Cgg | p.W625R |
14 | 429,568 | A | G | RECQL4 | NM_001098037.2 | c.370A > G | Acc/Gcc | p.T124A |
14 | 429,631 | T | C | RECQL4 | NM_001098037.2 | c.433 T > C | Tca/Cca | p.S145P |
4 | 40,075,565 | G | A | SEMA3C | NM_001101082.1 | c.718G > A | Gtg/Atg | p.V240M |
3 | 14,622,613 | C | G | SEMA4A | NM_001075440.1 | c.320C > G | aGt/aCt | p.S107T |
X | 133,162,026 | G | T | SHROOM2 | XM_002700461.5 | c.3176G > T | gCc/gAc | p.A1059D |
X | 133,162,029 | G | A | SHROOM2 | XM_002700461.5 | c.3173G > A | tCc/tTc | p.S1058F |