| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128632272_128632280dup | CA173597 | SPTAN1 | c.6944_6952dup (p.Leu2317_Gly2318insAspGlnLeu) c.6971_6979dup (p.Leu2326_Gly2327insAspGlnLeu) c.6995_7003dup (p.Leu2334_Gly2335insAspGlnLeu) c.6434_6442dup (p.Leu2147_Gly2148insAspGlnLeu) c.4513_4521dup c.2850_2858dup c.6908_6916dup (p.Leu2305_Gly2306insAspGlnLeu) n.632_640dup c.6833_6841dup (p.Leu2280_Gly2281insAspGlnLeu) c.6893_6901dup (p.Leu2300_Gly2301insAspGlnLeu) n.862_870dup n.665_673dup c.6848_6856dup (p.Leu2285_Gly2286insAspGlnLeu) c.7007_7015dup (p.Leu2338_Gly2339insAspGlnLeu) c.6992_7000dup (p.Leu2333_Gly2334insAspGlnLeu) c.6947_6955dup (p.Leu2318_Gly2319insAspGlnLeu) c.6929_6937dup (p.Leu2312_Gly2313insAspGlnLeu) c.6926_6934dup (p.Leu2311_Gly2312insAspGlnLeu) c.6911_6919dup (p.Leu2306_Gly2307insAspGlnLeu) c.6884_6892dup (p.Leu2297_Gly2298insAspGlnLeu) c.6869_6877dup (p.Leu2292_Gly2293insAspGlnLeu) c.6890_6898dup (p.Leu2299_Gly2300insAspGlnLeu) c.6866_6874dup (p.Leu2291_Gly2292insAspGlnLeu) | ClinVar dbSNP |
| 9 | g.128632272_128632280del | CA318788 | SPTAN1 | c.6944_6952del (p.Asp2315_Leu2317del) c.6971_6979del (p.Asp2324_Leu2326del) c.6995_7003del (p.Asp2332_Leu2334del) c.6434_6442del (p.Asp2145_Leu2147del) c.4513_4521del c.2850_2858del c.6908_6916del (p.Asp2303_Leu2305del) n.632_640del c.6833_6841del (p.Asp2278_Leu2280del) c.6893_6901del (p.Asp2298_Leu2300del) n.862_870del n.665_673del c.6848_6856del (p.Asp2283_Leu2285del) c.7007_7015del (p.Asp2336_Leu2338del) c.6992_7000del (p.Asp2331_Leu2333del) c.6947_6955del (p.Asp2316_Leu2318del) c.6929_6937del (p.Asp2310_Leu2312del) c.6926_6934del (p.Asp2309_Leu2311del) c.6911_6919del (p.Asp2304_Leu2306del) c.6884_6892del (p.Asp2295_Leu2297del) c.6869_6877del (p.Asp2290_Leu2292del) c.6890_6898del (p.Asp2297_Leu2299del) c.6866_6874del (p.Asp2289_Leu2291del) | ClinVar dbSNP |