| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240594876_240594877insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC | CA1044051910 | CAPN10 | c.998-148_998-147insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC (n.998-148_998-147insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC) c.*162-148_*162-147insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC (n.*162-148_*162-147insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC) c.273+5402_273+5403insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC (n.273+5402_273+5403insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC) c.142-3012_142-3011insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC (n.142-3012_142-3011insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC) n.470-148_470-147insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC n.2577-148_2577-147insCGGGAGGAGGGTGATGATTCTGTCCCAGGAGCCGGGAGGAGGGTGATGATTCTGTCCCAGGAGC | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.240594845_240594876del | CA1044051865 | CAPN10 | c.997+136_998-148del (n.997+136_998-148del) c.*161+136_*162-148del (n.*161+136_*162-148del) c.273+5371_273+5402del (n.273+5371_273+5402del) c.142-3043_142-3012del (n.142-3043_142-3012del) n.469+136_470-148del n.2576+136_2577-148del | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.240594845_240594876dup | CA16602240 | CAPN10 | c.997+136_998-148dup (n.997+136_998-148dup) c.*161+136_*162-148dup (n.*161+136_*162-148dup) c.273+5371_273+5402dup (n.273+5371_273+5402dup) c.142-3043_142-3012dup (n.142-3043_142-3012dup) n.469+136_470-148dup n.2576+136_2577-148dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |