Table 2 Rare coding variations (n = 38) of WFS1 in patients with early-onset type 2 diabetes.
Position | Region | Codon change | AA change | ACMG* | Allele frequency | |
---|---|---|---|---|---|---|
1000 Genomes | ExAC | |||||
6,303,126 | Exon8 | TGGTGTGCTTCATGT-T | L535Lfs*3 | P | 0 | 0 |
6,303,589 | Exon8 | CTGCAGCCACC-C | L689Lfs*18 | P | 0 | 0 |
6,303,602 | Exon8 | GA-G | E694Gfs*16 | P | 0 | 0 |
6,290,799 | Exon4 | GCG-GTG | A134V | LP | 0 | 0 |
6,293,030 | Exon5 | CAAG-C | K193del | LP | 0 | 0 |
6,303,407 | Exon8 | CGG-TGG | R629W | LP | 0 | 0 |
6,279,355 | Exon2 | GCG-GTG | A58V | US | 0 | 0.0007 |
6,279,382 | Exon2 | CAT-CTT | H67L | US | 0 | 0 |
6,290,847 | Exon4 | GCG-GTG | A150V | US | 0.005 | 0.00124 |
6,292,998 | Exon5 | GCA-ACA | A179T | US | 0 | 0.00008 |
6,293,076 | Exon5 | GGC-AGC | G205S | US | 0 | 0.00012 |
6,296,873 | Exon7 | GAG-GCG | E273A | US | 0 | 0.00032 |
6,302,413 | Exon8 | ATG-ATA | M297I | US | 0 | 0 |
6,302,626 | Exon8 | AGC-AGG | S368R | US | 0 | 0 |
6,302,741 | Exon8 | CAT-TAT | H407Y | US | 0 | 0 |
6,302,756 | Exon8 | GTC-CTC | V412L | US | 0.002 | 0 |
6,302,816 | Exon8 | CTG-GTG | L432V | US | 0 | 0 |
6,302,927 | Exon8 | TCG-ACG | S469T | US | 0 | 0 |
6,302,937 | Exon8 | CCC-CTC | P472L | US | 0 | 0 |
6,303,029 | Exon8 | GTC-ATC | V503I | US | 0.002 | 0.00016 |
6,303,030 | Exon8 | GTC-GGC | V503G | US | 0 | 0.00016 |
6,303,060 | Exon8 | TAT-TGT | Y513C | US | 0 | 0 |
6,303,062 | Exon8 | CTC-TTC | L514F | US | 0 | 0 |
6,303,197 | Exon8 | GCC-ACC | A559T | US | 0 | 0.00223 |
6,303,203 | Exon8 | ATC-GTC | I561V | US | 0 | 0.00012 |
6,303,246 | Exon8 | GCC-GGC | A575G | US | 0 | 0 |
6,303,368 | Exon8 | GCC-TCC | A616S | US | 0.001 | 0.00004 |
6,303,378 | Exon8 | TCT-TTT | S619F | US | 0 | 0 |
6,303,479 | Exon8 | CGC-TGC | R653C | US | 0 | 0.00078 |
6,303,491 | Exon8 | ATG-TTG | M657L | US | 0 | 0 |
6,303,575 | Exon8 | CGC-TGC | R685C | US | 0 | 0.00036 |
6,303,644 | Exon8 | CGC-TGC | R708C | US | 0 | 0.00008 |
6,303,869 | Exon8 | TTC-CTC | F783L | US | 0 | 0.00028 |
6,303,891 | Exon8 | TCG-TTG | S790L | US | 0 | 0 |
6,303,936 | Exon8 | CGG-CAG | R805Q | US | 0 | 0.00008 |
6,304,086 | Exon8 | TCA-TTA | S855L | US | 0 | 0.00008 |
6,304,097 | Exon8 | CGG-TGG | R859W | US | 0 | 0.00016 |
6,304,134 | Exon8 | GTG-GGG | V871G | US | 0 | 0.00044 |