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Table 1 Confirmed deleteriousa or truncating somatic variants in GIST1 and GIST2

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.2525A > 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.743C > G p.S248* 36; 45
DNAH3 Q8TD57 chr16:21,049,229 34 c.4804G > A p.G1602S 76; 86
CAPN9 O14815 chr1:230,928,629 16 c.1825G > A p.G609S 32; 32
DIS3 Q9Y2L1 chr13:73,347,835 8 c.1226C > T p.S409F 17; 39
GJD2 Q9UKL4 chr15:35,044,921 2 c.724 T > C p.C242R 32; 19
EDN3 P14138 chr20:57,876,697 2 c.285G > T p.R95S 41; 42
PI4KA P42356 chr22:21,104,246 28 c.3190A > G p.I1064V 43; 29
TENM2 Q9NT68 chr5:167,645,590 23 c.4667 T > A p.I1556N 60; 64
JPH1 Q9HDC5 chr8:75,227,712 3 c.523G > A p.V175 M 25; 40
DIS3L2 Q8IYB7 chr2:232,880,352 2 c.181G > T p.E61* 0; 89
SENP6 Q9GZR1 chr6:76,369,037 7 c.610A > G p.K204E 0; 58
PLCG2 P16885 chr16:81,944,244 18 c.1853G > A p.R618H 0; 24
  1. ahttp://www.mypeg.info; bhttp://www.uniprot.org; cHg19; dmutant allele frequency
  2. The symbol "*" in a description of a protein variant is standard nomenclature that denotes a stop codon in the protein sequence