| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.128632274_128632282del | CA913184752 | SPTAN1 | c.6946_6954del (p.Gln2316_Gly2318del) c.6973_6981del (p.Gln2325_Gly2327del) c.6997_7005del (p.Gln2333_Gly2335del) c.6436_6444del (p.Gln2146_Gly2148del) c.4515_4523del c.2852_2860del c.6910_6918del (p.Gln2304_Gly2306del) n.634_642del c.6835_6843del (p.Gln2279_Gly2281del) c.6895_6903del (p.Gln2299_Gly2301del) n.864_872del n.667_675del c.6850_6858del (p.Gln2284_Gly2286del) c.7009_7017del (p.Gln2337_Gly2339del) c.6994_7002del (p.Gln2332_Gly2334del) c.6949_6957del (p.Gln2317_Gly2319del) c.6931_6939del (p.Gln2311_Gly2313del) c.6928_6936del (p.Gln2310_Gly2312del) c.6913_6921del (p.Gln2305_Gly2307del) c.6886_6894del (p.Gln2296_Gly2298del) c.6871_6879del (p.Gln2291_Gly2293del) c.6892_6900del (p.Gln2298_Gly2300del) c.6868_6876del (p.Gln2290_Gly2292del) | ClinVar dbSNP |
| 9 | g.128632274_128632282dup | CA318767 | SPTAN1 | c.6946_6954dup (p.Gly2318_Met2319insGlnLeuGly) c.6973_6981dup (p.Gly2327_Met2328insGlnLeuGly) c.6997_7005dup (p.Gly2335_Met2336insGlnLeuGly) c.6436_6444dup (p.Gly2148_Met2149insGlnLeuGly) c.4515_4523dup c.2852_2860dup c.6910_6918dup (p.Gly2306_Met2307insGlnLeuGly) n.634_642dup c.6835_6843dup (p.Gly2281_Met2282insGlnLeuGly) c.6895_6903dup (p.Gly2301_Met2302insGlnLeuGly) n.864_872dup n.667_675dup c.6850_6858dup (p.Gly2286_Met2287insGlnLeuGly) c.7009_7017dup (p.Gly2339_Met2340insGlnLeuGly) c.6994_7002dup (p.Gly2334_Met2335insGlnLeuGly) c.6949_6957dup (p.Gly2319_Met2320insGlnLeuGly) c.6931_6939dup (p.Gly2313_Met2314insGlnLeuGly) c.6928_6936dup (p.Gly2312_Met2313insGlnLeuGly) c.6913_6921dup (p.Gly2307_Met2308insGlnLeuGly) c.6886_6894dup (p.Gly2298_Met2299insGlnLeuGly) c.6871_6879dup (p.Gly2293_Met2294insGlnLeuGly) c.6892_6900dup (p.Gly2300_Met2301insGlnLeuGly) c.6868_6876dup (p.Gly2292_Met2293insGlnLeuGly) | ClinVar dbSNP |