| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.88832001_88836270dup | CA2573159499 | GALNS | c.567_1002dup n.3976_4411dup c.248_683dup c.686_1121dup c.585_1020dup c.12_447dup | ClinVar |
| 16 | g.88835943_88836181del | CA980349188 | GALNS | c.633+28_634-86del (n.633+28_634-86del) n.4042+28_4043-86del c.417+28_418-86del (n.417+28_418-86del) n.221+28_222-86del n.335+28_336-86del c.314+28_315-86del (n.314+28_315-86del) c.752+28_753-86del (n.752+28_753-86del) c.651+28_652-86del (n.651+28_652-86del) c.78+28_79-86del (n.78+28_79-86del) | gnomAD v3 gnomAD v4 |
| 16 | g.88835957_88836195del | CA980349206 | GALNS | c.633+19_634-95del (n.633+19_634-95del) n.4042+19_4043-95del c.417+19_418-95del (n.417+19_418-95del) n.221+19_222-95del n.335+19_336-95del c.314+19_315-95del (n.314+19_315-95del) c.752+19_753-95del (n.752+19_753-95del) c.651+19_652-95del (n.651+19_652-95del) c.78+19_79-95del (n.78+19_79-95del) | gnomAD v3 gnomAD v4 |
| 16 | g.88835967_88836125del | CA980349216 | GALNS | c.633+86_634-108del (n.633+86_634-108del) n.4042+86_4043-108del c.417+86_418-108del (n.417+86_418-108del) n.221+86_222-108del n.335+86_336-108del c.314+86_315-108del (n.314+86_315-108del) c.752+86_753-108del (n.752+86_753-108del) c.651+86_652-108del (n.651+86_652-108del) c.78+86_79-108del (n.78+86_79-108del) | gnomAD v3 gnomAD v4 |
| 16 | g.88835974_88836172del | CA980349233 | GALNS | c.633+38_634-116del (n.633+38_634-116del) n.4042+38_4043-116del c.417+38_418-116del (n.417+38_418-116del) n.221+38_222-116del n.335+38_336-116del c.314+38_315-116del (n.314+38_315-116del) c.752+38_753-116del (n.752+38_753-116del) c.651+38_652-116del (n.651+38_652-116del) c.78+38_79-116del (n.78+38_79-116del) | gnomAD v3 gnomAD v4 |
| 16 | g.88835978_88836137delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGAT | CA2241324993 | GALNS | c.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.633+64_634-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG) n.4042+64_4043-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG c.417+64_418-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.417+64_418-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG) n.221+64_222-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG n.335+64_336-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG c.314+64_315-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.314+64_315-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG) c.752+64_753-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.752+64_753-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG) c.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.651+64_652-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG) c.78+64_79-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.78+64_79-129delinsATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG) | |
| 16 | g.88835979_88836137del | CA980349256 | GALNS | c.633+64_634-130del (n.633+64_634-130del) n.4042+64_4043-130del c.417+64_418-130del (n.417+64_418-130del) n.221+64_222-130del n.335+64_336-130del c.314+64_315-130del (n.314+64_315-130del) c.752+64_753-130del (n.752+64_753-130del) c.651+64_652-130del (n.651+64_652-130del) c.78+64_79-130del (n.78+64_79-130del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88836037_88836195del | CA624207032 | GALNS | c.633+28_634-166del (n.633+28_634-166del) n.4042+28_4043-166del c.417+28_418-166del (n.417+28_418-166del) n.221+28_222-166del n.335+28_336-166del c.314+28_315-166del (n.314+28_315-166del) c.752+28_753-166del (n.752+28_753-166del) c.651+28_652-166del (n.651+28_652-166del) c.78+28_79-166del (n.78+28_79-166del) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88836044_88836162del | CA980349325 | GALNS | c.633+59_634-175del (n.633+59_634-175del) n.4042+59_4043-175del c.417+59_418-175del (n.417+59_418-175del) n.221+59_222-175del n.335+59_336-175del c.314+59_315-175del (n.314+59_315-175del) c.752+59_753-175del (n.752+59_753-175del) c.651+59_652-175del (n.651+59_652-175del) c.78+59_79-175del (n.78+59_79-175del) | gnomAD v3 gnomAD v4 |
| 16 | g.88836044_88836163delinsCGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCAT | CA2241325049 | GALNS | c.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG (n.633+38_633+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG) n.4042+38_4042+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG c.417+38_417+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG (n.417+38_417+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG) n.221+38_221+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG n.335+38_335+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG c.314+38_314+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG (n.314+38_314+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG) c.752+38_752+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG (n.752+38_752+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG) c.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG (n.651+38_651+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG) c.78+38_78+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG (n.78+38_78+157delinsATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCCGTGGGACGCG) | |
| 16 | g.88836054_88836172del | CA980349355 | GALNS | c.633+38_633+156del (n.633+38_633+156del) n.4042+38_4042+156del c.417+38_417+156del (n.417+38_417+156del) n.221+38_221+156del n.335+38_335+156del c.314+38_314+156del (n.314+38_314+156del) c.752+38_752+156del (n.752+38_752+156del) c.651+38_651+156del (n.651+38_651+156del) c.78+38_78+156del (n.78+38_78+156del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88836054_88836173delinsGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCCGTCCCCATGCGTCCCACA | CA2241325059 | GALNS | c.633+28_633+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC (n.633+28_633+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC) n.4042+28_4042+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC c.417+28_417+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC (n.417+28_417+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC) n.221+28_221+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC n.335+28_335+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC c.314+28_314+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC (n.314+28_314+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC) c.752+28_752+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC (n.752+28_752+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC) c.651+28_651+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC (n.651+28_651+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC) c.78+28_78+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC (n.78+28_78+147delinsTGTGGGACGCATGGGGACGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCACCCCGTGGGAGGCATGGGTTCAGGGACCTCATCACCCTCGCCCC) | |
| 16 | g.88836063_88836181del | CA980349371 | GALNS | c.633+28_633+146del (n.633+28_633+146del) n.4042+28_4042+146del c.417+28_417+146del (n.417+28_417+146del) n.221+28_221+146del n.335+28_335+146del c.314+28_314+146del (n.314+28_314+146del) c.752+28_752+146del (n.752+28_752+146del) c.651+28_651+146del (n.651+28_651+146del) c.78+28_78+146del (n.78+28_78+146del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88836073_88836182del | CA2607750278 | GALNS | c.633+19_633+128del (n.633+19_633+128del) n.4042+19_4042+128del c.417+19_417+128del (n.417+19_417+128del) n.221+19_221+128del n.335+19_335+128del c.314+19_314+128del (n.314+19_314+128del) c.752+19_752+128del (n.752+19_752+128del) c.651+19_651+128del (n.651+19_651+128del) c.78+19_78+128del (n.78+19_78+128del) | gnomAD v4 |
| 16 | g.88836097_88836136delinsGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGA | CA2241325095 | GALNS | c.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC (n.633+65_633+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC) n.4042+65_4042+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC c.417+65_417+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC (n.417+65_417+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC) n.221+65_221+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC n.335+65_335+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC c.314+65_314+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC (n.314+65_314+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC) c.752+65_752+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC (n.752+65_752+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC) c.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC (n.651+65_651+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC) c.78+65_78+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC (n.78+65_78+104delinsTCCTGTGGGAGGCGTGGGGACAGGAATGCATCAACCTCAC) | |
| 16 | g.88836106_88836144del | CA980349407 | GALNS | c.633+65_633+103del (n.633+65_633+103del) n.4042+65_4042+103del c.417+65_417+103del (n.417+65_417+103del) n.221+65_221+103del n.335+65_335+103del c.314+65_314+103del (n.314+65_314+103del) c.752+65_752+103del (n.752+65_752+103del) c.651+65_651+103del (n.651+65_651+103del) c.78+65_78+103del (n.78+65_78+103del) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88836115_88836155delinsTGTCCCCACGCCTCCCACAGGATGAGGTTGGTGCGGTCCCC | CA2241325110 | GALNS | c.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA (n.633+46_633+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA) n.4042+46_4042+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA c.417+46_417+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA (n.417+46_417+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA) n.221+46_221+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA n.335+46_335+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA c.314+46_314+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA (n.314+46_314+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA) c.752+46_752+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA (n.752+46_752+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA) c.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA (n.651+46_651+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA) c.78+46_78+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA (n.78+46_78+86delinsGGGGACCGCACCAACCTCATCCTGTGGGAGGCGTGGGGACA) | |
| 16 | g.88836123_88836162del | CA286403120 | GALNS | c.633+46_633+85del (n.633+46_633+85del) n.4042+46_4042+85del c.417+46_417+85del (n.417+46_417+85del) n.221+46_221+85del n.335+46_335+85del c.314+46_314+85del (n.314+46_314+85del) c.752+46_752+85del (n.752+46_752+85del) c.651+46_651+85del (n.651+46_651+85del) c.78+46_78+85del (n.78+46_78+85del) | dbSNP |
| 16 | g.88836121_88836123del | CA2516203255 | GALNS | c.633+79_633+81del (n.633+79_633+81del) n.4042+79_4042+81del c.417+79_417+81del (n.417+79_417+81del) n.221+79_221+81del n.335+79_335+81del c.314+79_314+81del (n.314+79_314+81del) c.752+79_752+81del (n.752+79_752+81del) c.651+79_651+81del (n.651+79_651+81del) c.78+79_78+81del (n.78+79_78+81del) | |
| 16 | g.88836122A>G | CA2634892845 | GALNS | c.633+79T>C (n.633+79T>C) n.4042+79T>C c.417+79T>C (n.417+79T>C) n.221+79T>C n.335+79T>C c.314+79T>C (n.314+79T>C) c.752+79T>C (n.752+79T>C) c.651+79T>C (n.651+79T>C) c.78+79T>C (n.78+79T>C) | gnomAD v4 |
| 16 | g.88836123C= | CA2241325115 | GALNS | c.633+78G= (n.633+78G=) n.4042+78G= c.417+78G= (n.417+78G=) n.221+78G= n.335+78G= c.314+78G= (n.314+78G=) c.752+78G= (n.752+78G=) c.651+78G= (n.651+78G=) c.78+78G= (n.78+78G=) | |
| 16 | g.88836123C>T | CA286403156 | GALNS | c.633+78G>A (n.633+78G>A) n.4042+78G>A c.417+78G>A (n.417+78G>A) n.221+78G>A n.335+78G>A c.314+78G>A (n.314+78G>A) c.752+78G>A (n.752+78G>A) c.651+78G>A (n.651+78G>A) c.78+78G>A (n.78+78G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88836124G>A | CA624207044 | GALNS | c.633+77C>T (n.633+77C>T) n.4042+77C>T c.417+77C>T (n.417+77C>T) n.221+77C>T n.335+77C>T c.314+77C>T (n.314+77C>T) c.752+77C>T (n.752+77C>T) c.651+77C>T (n.651+77C>T) c.78+77C>T (n.78+77C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.88836124G= | CA2241325116 | GALNS | c.633+77C= (n.633+77C=) n.4042+77C= c.417+77C= (n.417+77C=) n.221+77C= n.335+77C= c.314+77C= (n.314+77C=) c.752+77C= (n.752+77C=) c.651+77C= (n.651+77C=) c.78+77C= (n.78+77C=) | |
| 16 | g.88836124G>T | CA2634892849 | GALNS | c.633+77C>A (n.633+77C>A) n.4042+77C>A c.417+77C>A (n.417+77C>A) n.221+77C>A n.335+77C>A c.314+77C>A (n.314+77C>A) c.752+77C>A (n.752+77C>A) c.651+77C>A (n.651+77C>A) c.78+77C>A (n.78+77C>A) | gnomAD v4 |
| 16 | g.88836125C>A | CA2634892850 | GALNS | c.633+76G>T (n.633+76G>T) n.4042+76G>T c.417+76G>T (n.417+76G>T) n.221+76G>T n.335+76G>T c.314+76G>T (n.314+76G>T) c.752+76G>T (n.752+76G>T) c.651+76G>T (n.651+76G>T) c.78+76G>T (n.78+76G>T) | gnomAD v4 |
| 16 | g.88836125C>G | CA2634892851 | GALNS | c.633+76G>C (n.633+76G>C) n.4042+76G>C c.417+76G>C (n.417+76G>C) n.221+76G>C n.335+76G>C c.314+76G>C (n.314+76G>C) c.752+76G>C (n.752+76G>C) c.651+76G>C (n.651+76G>C) c.78+76G>C (n.78+76G>C) | gnomAD v4 |
| 16 | g.88836125C>T | CA2634892853 | GALNS | c.633+76G>A (n.633+76G>A) n.4042+76G>A c.417+76G>A (n.417+76G>A) n.221+76G>A n.335+76G>A c.314+76G>A (n.314+76G>A) c.752+76G>A (n.752+76G>A) c.651+76G>A (n.651+76G>A) c.78+76G>A (n.78+76G>A) | gnomAD v4 |
| 16 | g.88836126C>A | CA2634892854 | GALNS | c.633+75G>T (n.633+75G>T) n.4042+75G>T c.417+75G>T (n.417+75G>T) n.221+75G>T n.335+75G>T c.314+75G>T (n.314+75G>T) c.752+75G>T (n.752+75G>T) c.651+75G>T (n.651+75G>T) c.78+75G>T (n.78+75G>T) | gnomAD v4 |
| 16 | g.88836126C>G | CA2634892855 | GALNS | c.633+75G>C (n.633+75G>C) n.4042+75G>C c.417+75G>C (n.417+75G>C) n.221+75G>C n.335+75G>C c.314+75G>C (n.314+75G>C) c.752+75G>C (n.752+75G>C) c.651+75G>C (n.651+75G>C) c.78+75G>C (n.78+75G>C) | gnomAD v4 |
| 16 | g.88836126C>T | CA2733027100 | GALNS | c.633+75G>A (n.633+75G>A) n.4042+75G>A c.417+75G>A (n.417+75G>A) n.221+75G>A n.335+75G>A c.314+75G>A (n.314+75G>A) c.752+75G>A (n.752+75G>A) c.651+75G>A (n.651+75G>A) c.78+75G>A (n.78+75G>A) | dbSNP |
| 16 | g.88836127T>C | CA2634892858 | GALNS | c.633+74A>G (n.633+74A>G) n.4042+74A>G c.417+74A>G (n.417+74A>G) n.221+74A>G n.335+74A>G c.314+74A>G (n.314+74A>G) c.752+74A>G (n.752+74A>G) c.651+74A>G (n.651+74A>G) c.78+74A>G (n.78+74A>G) | gnomAD v4 |
| 16 | g.88836136_88836175del | CA2634892857 | GALNS | c.633+35_633+74del (n.633+35_633+74del) n.4042+35_4042+74del c.417+35_417+74del (n.417+35_417+74del) n.221+35_221+74del n.335+35_335+74del c.314+35_314+74del (n.314+35_314+74del) c.752+35_752+74del (n.752+35_752+74del) c.651+35_651+74del (n.651+35_651+74del) c.78+35_78+74del (n.78+35_78+74del) | gnomAD v4 |
| 16 | g.88836128C>A | CA2733027102 | GALNS | c.633+73G>T (n.633+73G>T) n.4042+73G>T c.417+73G>T (n.417+73G>T) n.221+73G>T n.335+73G>T c.314+73G>T (n.314+73G>T) c.752+73G>T (n.752+73G>T) c.651+73G>T (n.651+73G>T) c.78+73G>T (n.78+73G>T) | dbSNP |
| 16 | g.88836130del | CA2634892859 | GALNS | c.633+73del (n.633+73del) n.4042+73del c.417+73del (n.417+73del) n.221+73del n.335+73del c.314+73del (n.314+73del) c.752+73del (n.752+73del) c.651+73del (n.651+73del) c.78+73del (n.78+73del) | gnomAD v4 |
| 16 | g.88836129C>T | CA2576094660 | GALNS | c.633+72G>A (n.633+72G>A) n.4042+72G>A c.417+72G>A (n.417+72G>A) n.221+72G>A n.335+72G>A c.314+72G>A (n.314+72G>A) c.752+72G>A (n.752+72G>A) c.651+72G>A (n.651+72G>A) c.78+72G>A (n.78+72G>A) | |
| 16 | g.88836131A>C | CA2733027140 | GALNS | c.633+70T>G (n.633+70T>G) n.4042+70T>G c.417+70T>G (n.417+70T>G) n.221+70T>G n.335+70T>G c.314+70T>G (n.314+70T>G) c.752+70T>G (n.752+70T>G) c.651+70T>G (n.651+70T>G) c.78+70T>G (n.78+70T>G) | dbSNP |
| 16 | g.88836132C>A | CA2732974494 | GALNS | c.633+69G>T (n.633+69G>T) n.4042+69G>T c.417+69G>T (n.417+69G>T) n.221+69G>T n.335+69G>T c.314+69G>T (n.314+69G>T) c.752+69G>T (n.752+69G>T) c.651+69G>T (n.651+69G>T) c.78+69G>T (n.78+69G>T) | dbSNP |
| 16 | g.88836132C= | CA2241325117 | GALNS | c.633+69G= (n.633+69G=) n.4042+69G= c.417+69G= (n.417+69G=) n.221+69G= n.335+69G= c.314+69G= (n.314+69G=) c.752+69G= (n.752+69G=) c.651+69G= (n.651+69G=) c.78+69G= (n.78+69G=) | |
| 16 | g.88836132C>G | CA980349458 | GALNS | c.633+69G>C (n.633+69G>C) n.4042+69G>C c.417+69G>C (n.417+69G>C) n.221+69G>C n.335+69G>C c.314+69G>C (n.314+69G>C) c.752+69G>C (n.752+69G>C) c.651+69G>C (n.651+69G>C) c.78+69G>C (n.78+69G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.88836132C>T | CA2634892861 | GALNS | c.633+69G>A (n.633+69G>A) n.4042+69G>A c.417+69G>A (n.417+69G>A) n.221+69G>A n.335+69G>A c.314+69G>A (n.314+69G>A) c.752+69G>A (n.752+69G>A) c.651+69G>A (n.651+69G>A) c.78+69G>A (n.78+69G>A) | gnomAD v4 |
| 16 | g.88836133A= | CA2241325119 | GALNS | c.633+68T= (n.633+68T=) n.4042+68T= c.417+68T= (n.417+68T=) n.221+68T= n.335+68T= c.314+68T= (n.314+68T=) c.752+68T= (n.752+68T=) c.651+68T= (n.651+68T=) c.78+68T= (n.78+68T=) | |
| 16 | g.88836133A>C | CA2732966669 | GALNS | c.633+68T>G (n.633+68T>G) n.4042+68T>G c.417+68T>G (n.417+68T>G) n.221+68T>G n.335+68T>G c.314+68T>G (n.314+68T>G) c.752+68T>G (n.752+68T>G) c.651+68T>G (n.651+68T>G) c.78+68T>G (n.78+68T>G) | dbSNP |
| 16 | g.88836133A>G | CA2241325118 | GALNS | c.633+68T>C (n.633+68T>C) n.4042+68T>C c.417+68T>C (n.417+68T>C) n.221+68T>C n.335+68T>C c.314+68T>C (n.314+68T>C) c.752+68T>C (n.752+68T>C) c.651+68T>C (n.651+68T>C) c.78+68T>C (n.78+68T>C) | dbSNP gnomAD v4 |
| 16 | g.88836134G>A | CA2634892863 | GALNS | c.633+67C>T (n.633+67C>T) n.4042+67C>T c.417+67C>T (n.417+67C>T) n.221+67C>T n.335+67C>T c.314+67C>T (n.314+67C>T) c.752+67C>T (n.752+67C>T) c.651+67C>T (n.651+67C>T) c.78+67C>T (n.78+67C>T) | gnomAD v4 |
| 16 | g.88836134G>C | CA2532596947 | GALNS | c.633+67C>G (n.633+67C>G) n.4042+67C>G c.417+67C>G (n.417+67C>G) n.221+67C>G n.335+67C>G c.314+67C>G (n.314+67C>G) c.752+67C>G (n.752+67C>G) c.651+67C>G (n.651+67C>G) c.78+67C>G (n.78+67C>G) | gnomAD v4 |
| 16 | g.88836134G>T | CA2634892864 | GALNS | c.633+67C>A (n.633+67C>A) n.4042+67C>A c.417+67C>A (n.417+67C>A) n.221+67C>A n.335+67C>A c.314+67C>A (n.314+67C>A) c.752+67C>A (n.752+67C>A) c.651+67C>A (n.651+67C>A) c.78+67C>A (n.78+67C>A) | gnomAD v4 |
| 16 | g.88836135G>A | CA286403170 | GALNS | c.633+66C>T (n.633+66C>T) n.4042+66C>T c.417+66C>T (n.417+66C>T) n.221+66C>T n.335+66C>T c.314+66C>T (n.314+66C>T) c.752+66C>T (n.752+66C>T) c.651+66C>T (n.651+66C>T) c.78+66C>T (n.78+66C>T) | dbSNP gnomAD v4 |
| 16 | g.88836135G= | CA2241325120 | GALNS | c.633+66C= (n.633+66C=) n.4042+66C= c.417+66C= (n.417+66C=) n.221+66C= n.335+66C= c.314+66C= (n.314+66C=) c.752+66C= (n.752+66C=) c.651+66C= (n.651+66C=) c.78+66C= (n.78+66C=) | |
| 16 | g.88836135G>T | CA2634892866 | GALNS | c.633+66C>A (n.633+66C>A) n.4042+66C>A c.417+66C>A (n.417+66C>A) n.221+66C>A n.335+66C>A c.314+66C>A (n.314+66C>A) c.752+66C>A (n.752+66C>A) c.651+66C>A (n.651+66C>A) c.78+66C>A (n.78+66C>A) | gnomAD v4 |