| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.143930162_143930170del | CA249447 | PLEC | c.2728_2736del (p.Gln910_Ala912del) c.2647_2655del (p.Gln883_Ala885del) c.2314_2322del (p.Gln772_Ala774del) c.2527_2535del (p.Gln843_Ala845del) c.2596_2604del (p.Gln866_Ala868del) c.2677_2685del (p.Gln893_Ala895del) c.3007_3015del (p.Gln1003_Ala1005del) c.2530_2538del (p.Gln844_Ala846del) c.2554_2562del (p.Gln852_Ala854del) c.2608_2616del (p.Gln870_Ala872del) c.2500_2508del (p.Gln834_Ala836del) c.2665_2673del (p.Gln889_Ala891del) c.3022_3030del (p.Gln1008_Ala1010del) c.2623_2631del (p.Gln875_Ala877del) c.2611_2619del (p.Gln871_Ala873del) c.2569_2577del (p.Gln857_Ala859del) c.2545_2553del (p.Gln849_Ala851del) c.2515_2523del (p.Gln839_Ala841del) c.2692_2700del (p.Gln898_Ala900del) c.2542_2550del (p.Gln848_Ala850del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.143930162_143930170dup | CA586158476 | PLEC | c.2728_2736dup (p.Ala912_Val913insGlnGluAla) c.2647_2655dup (p.Ala885_Val886insGlnGluAla) c.2314_2322dup (p.Ala774_Val775insGlnGluAla) c.2527_2535dup (p.Ala845_Val846insGlnGluAla) c.2596_2604dup (p.Ala868_Val869insGlnGluAla) c.2677_2685dup (p.Ala895_Val896insGlnGluAla) c.3007_3015dup (p.Ala1005_Val1006insGlnGluAla) c.2530_2538dup (p.Ala846_Val847insGlnGluAla) c.2554_2562dup (p.Ala854_Val855insGlnGluAla) c.2608_2616dup (p.Ala872_Val873insGlnGluAla) c.2500_2508dup (p.Ala836_Val837insGlnGluAla) c.2665_2673dup (p.Ala891_Val892insGlnGluAla) c.3022_3030dup (p.Ala1010_Val1011insGlnGluAla) c.2623_2631dup (p.Ala877_Val878insGlnGluAla) c.2611_2619dup (p.Ala873_Val874insGlnGluAla) c.2569_2577dup (p.Ala859_Val860insGlnGluAla) c.2545_2553dup (p.Ala851_Val852insGlnGluAla) c.2515_2523dup (p.Ala841_Val842insGlnGluAla) c.2692_2700dup (p.Ala900_Val901insGlnGluAla) c.2542_2550dup (p.Ala850_Val851insGlnGluAla) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |