From: Succinate dehydrogenase deficiency in a PDGFRA mutated GIST
Gene symbol | UniProt accessionb | Genomic coordinatec | Exon | Mutation (cDNA) | Mutation (protein) | MAFd (%), (GIST 1;GIST2) |
---|---|---|---|---|---|---|
PDGFRA | P16234 | chr4:55,152,093 | 18 | c.2525AÂ >Â T | p.D842V | 33; 48 |
SDHB | P21912 | chr1:17,355,226 | 4 | c.291_292delCT | p.I97Mfs*21 | 42; 61 |
CERS2 | Q96G23 | chr1:150,939,337 | 9 | c.743CÂ >Â G | p.S248* | 36; 45 |
DNAH3 | Q8TD57 | chr16:21,049,229 | 34 | c.4804GÂ >Â A | p.G1602S | 76; 86 |
CAPN9 | O14815 | chr1:230,928,629 | 16 | c.1825GÂ >Â A | p.G609S | 32; 32 |
DIS3 | Q9Y2L1 | chr13:73,347,835 | 8 | c.1226CÂ >Â T | p.S409F | 17; 39 |
GJD2 | Q9UKL4 | chr15:35,044,921 | 2 | c.724Â TÂ >Â C | p.C242R | 32; 19 |
EDN3 | P14138 | chr20:57,876,697 | 2 | c.285GÂ >Â T | p.R95S | 41; 42 |
PI4KA | P42356 | chr22:21,104,246 | 28 | c.3190AÂ >Â G | p.I1064V | 43; 29 |
TENM2 | Q9NT68 | chr5:167,645,590 | 23 | c.4667Â TÂ >Â A | p.I1556N | 60; 64 |
JPH1 | Q9HDC5 | chr8:75,227,712 | 3 | c.523GÂ >Â A | p.V175Â M | 25; 40 |
DIS3L2 | Q8IYB7 | chr2:232,880,352 | 2 | c.181GÂ >Â T | p.E61* | 0; 89 |
SENP6 | Q9GZR1 | chr6:76,369,037 | 7 | c.610AÂ >Â G | p.K204E | 0; 58 |
PLCG2 | P16885 | chr16:81,944,244 | 18 | c.1853GÂ >Â A | p.R618H | 0; 24 |