Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.88832001_88836270dupCA2573159499GALNSc.567_1002dup
n.3976_4411dup
c.248_683dup
c.686_1121dup
c.585_1020dup
c.12_447dup
 ClinVar
16g.88835943_88836181delCA980349188GALNSc.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
16g.88835943_88836063delinsTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGCA2241324968GALNSc.633+138_634-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.633+138_634-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
n.4042+138_4043-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
c.417+138_418-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.417+138_418-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
n.221+138_222-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
n.335+138_336-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
c.314+138_315-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.314+138_315-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
c.752+138_753-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.752+138_753-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
c.651+138_652-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.651+138_652-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
c.78+138_79-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.78+138_79-94delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
16g.88835979_88836058delCA624207027GALNSc.634-174_634-95del (n.634-174_634-95del)
n.4043-174_4043-95del
c.418-174_418-95del (n.418-174_418-95del)
n.222-174_222-95del
n.336-174_336-95del
c.315-174_315-95del (n.315-174_315-95del)
c.753-174_753-95del (n.753-174_753-95del)
c.652-174_652-95del (n.652-174_652-95del)
c.79-174_79-95del (n.79-174_79-95del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88835946_88836065delCA980349204GALNSc.633+138_634-95del (n.633+138_634-95del)
n.4042+138_4043-95del
c.417+138_418-95del (n.417+138_418-95del)
n.221+138_222-95del
n.335+138_336-95del
c.314+138_315-95del (n.314+138_315-95del)
c.752+138_753-95del (n.752+138_753-95del)
c.651+138_652-95del (n.651+138_652-95del)
c.78+138_79-95del (n.78+138_79-95del)
 dbSNP gnomAD v3 gnomAD v4
16g.88835957_88836195delCA980349206GALNSc.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
16g.88835953_88836148delCA2808066927GALNSc.633+53_634-104del (n.633+53_634-104del)
n.4042+53_4043-104del
c.417+53_418-104del (n.417+53_418-104del)
n.221+53_222-104del
n.335+53_336-104del
c.314+53_315-104del (n.314+53_315-104del)
c.752+53_753-104del (n.752+53_753-104del)
c.651+53_652-104del (n.651+53_652-104del)
c.78+53_79-104del (n.78+53_79-104del)
16g.88835967_88836125delCA980349216GALNSc.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
16g.88835974_88836172delCA980349233GALNSc.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
16g.88835969_88836044delCA980349241GALNSc.633+157_634-120del (n.633+157_634-120del)
n.4042+157_4043-120del
c.417+157_418-120del (n.417+157_418-120del)
n.221+157_222-120del
n.335+157_336-120del
c.314+157_315-120del (n.314+157_315-120del)
c.752+157_753-120del (n.752+157_753-120del)
c.651+157_652-120del (n.651+157_652-120del)
c.78+157_79-120del (n.78+157_79-120del)
 gnomAD v3 gnomAD v4
16g.88835978_88836067delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATCA2241324994GALNSc.633+134_634-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.633+134_634-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG)
n.4042+134_4043-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG
c.417+134_418-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.417+134_418-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG)
n.221+134_222-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG
n.335+134_336-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG
c.314+134_315-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.314+134_315-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG)
c.752+134_753-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.752+134_753-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG)
c.651+134_652-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.651+134_652-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG)
c.78+134_79-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG (n.78+134_79-129delinsATCACCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCATCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTG)
16g.88835978_88836137delinsCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGATGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGTGATGAGGTCCCTGAACCCATGCCTCCCACGGGGTGAGGTTGATGCATTCCTGTCCCCACGCCTCCCACAGGATCA2241324993GALNSc.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)
16g.88835979_88836067delCA980349255GALNSc.633+134_634-130del (n.633+134_634-130del)
n.4042+134_4043-130del
c.417+134_418-130del (n.417+134_418-130del)
n.221+134_222-130del
n.335+134_336-130del
c.314+134_315-130del (n.314+134_315-130del)
c.752+134_753-130del (n.752+134_753-130del)
c.651+134_652-130del (n.651+134_652-130del)
c.78+134_79-130del (n.78+134_79-130del)
 dbSNP gnomAD v3 gnomAD v4
16g.88835979_88836137delCA980349256GALNSc.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
16g.88836023_88836062dupCA914139084GALNSc.634-174_634-135dup (n.634-174_634-135dup)
n.4043-174_4043-135dup
c.418-174_418-135dup (n.418-174_418-135dup)
n.222-174_222-135dup
n.336-174_336-135dup
c.315-174_315-135dup (n.315-174_315-135dup)
c.753-174_753-135dup (n.753-174_753-135dup)
c.652-174_652-135dup (n.652-174_652-135dup)
c.79-174_79-135dup (n.79-174_79-135dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836023_88836062delCA980349278GALNSc.634-174_634-135del (n.634-174_634-135del)
n.4043-174_4043-135del
c.418-174_418-135del (n.418-174_418-135del)
n.222-174_222-135del
n.336-174_336-135del
c.315-174_315-135del (n.315-174_315-135del)
c.753-174_753-135del (n.753-174_753-135del)
c.652-174_652-135del (n.652-174_652-135del)
c.79-174_79-135del (n.79-174_79-135del)
 dbSNP gnomAD v3 gnomAD v4
16g.88835996_88836075delCA2600540201GALNSc.633+132_634-141del (n.633+132_634-141del)
n.4042+132_4043-141del
c.417+132_418-141del (n.417+132_418-141del)
n.221+132_222-141del
n.335+132_336-141del
c.314+132_315-141del (n.314+132_315-141del)
c.752+132_753-141del (n.752+132_753-141del)
c.651+132_652-141del (n.651+132_652-141del)
c.78+132_79-141del (n.78+132_79-141del)
 gnomAD v3 gnomAD v4
16g.88836037_88836195delCA624207032GALNSc.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
16g.88836024_88836063delinsTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGGCA2241325034GALNSc.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA (n.633+138_634-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA)
n.4042+138_4043-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA
c.417+138_418-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA (n.417+138_418-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA)
n.221+138_222-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA
n.335+138_336-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA
c.314+138_315-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA (n.314+138_315-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA)
c.752+138_753-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA (n.752+138_753-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA)
c.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA (n.651+138_652-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA)
c.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA (n.78+138_79-175delinsCCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCA)
16g.88836044_88836162delCA980349325GALNSc.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
16g.88836025_88836063delCA624207035GALNSc.633+138_634-176del (n.633+138_634-176del)
n.4042+138_4043-176del
c.417+138_418-176del (n.417+138_418-176del)
n.221+138_222-176del
n.335+138_336-176del
c.314+138_315-176del (n.314+138_315-176del)
c.752+138_753-176del (n.752+138_753-176del)
c.651+138_652-176del (n.651+138_652-176del)
c.78+138_79-176del (n.78+138_79-176del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836026G>ACA2733026598GALNSc.633+175C>T (n.633+175C>T)
n.4042+175C>T
c.417+175C>T (n.417+175C>T)
n.221+175C>T
n.335+175C>T
c.314+175C>T (n.314+175C>T)
c.752+175C>T (n.752+175C>T)
c.651+175C>T (n.651+175C>T)
c.78+175C>T (n.78+175C>T)
 dbSNP
16g.88836027T>CCA2241325035GALNSc.633+174A>G (n.633+174A>G)
n.4042+174A>G
c.417+174A>G (n.417+174A>G)
n.221+174A>G
n.335+174A>G
c.314+174A>G (n.314+174A>G)
c.752+174A>G (n.752+174A>G)
c.651+174A>G (n.651+174A>G)
c.78+174A>G (n.78+174A>G)
 dbSNP
16g.88836027T>GCA725641207GALNSc.633+174A>C (n.633+174A>C)
n.4042+174A>C
c.417+174A>C (n.417+174A>C)
n.221+174A>C
n.335+174A>C
c.314+174A>C (n.314+174A>C)
c.752+174A>C (n.752+174A>C)
c.651+174A>C (n.651+174A>C)
c.78+174A>C (n.78+174A>C)
 dbSNP gnomAD v3 gnomAD v4
16g.88836027T=CA2241325036GALNSc.633+174A= (n.633+174A=)
n.4042+174A=
c.417+174A= (n.417+174A=)
n.221+174A=
n.335+174A=
c.314+174A= (n.314+174A=)
c.752+174A= (n.752+174A=)
c.651+174A= (n.651+174A=)
c.78+174A= (n.78+174A=)
16g.88836029C=CA2241325037GALNSc.633+172G= (n.633+172G=)
n.4042+172G=
c.417+172G= (n.417+172G=)
n.221+172G=
n.335+172G=
c.314+172G= (n.314+172G=)
c.752+172G= (n.752+172G=)
c.651+172G= (n.651+172G=)
c.78+172G= (n.78+172G=)
16g.88836029C>TCA286403050GALNSc.633+172G>A (n.633+172G>A)
n.4042+172G>A
c.417+172G>A (n.417+172G>A)
n.221+172G>A
n.335+172G>A
c.314+172G>A (n.314+172G>A)
c.752+172G>A (n.752+172G>A)
c.651+172G>A (n.651+172G>A)
c.78+172G>A (n.78+172G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836030G>ACA286403053GALNSc.633+171C>T (n.633+171C>T)
n.4042+171C>T
c.417+171C>T (n.417+171C>T)
n.221+171C>T
n.335+171C>T
c.314+171C>T (n.314+171C>T)
c.752+171C>T (n.752+171C>T)
c.651+171C>T (n.651+171C>T)
c.78+171C>T (n.78+171C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.88836030G=CA2241325038GALNSc.633+171C= (n.633+171C=)
n.4042+171C=
c.417+171C= (n.417+171C=)
n.221+171C=
n.335+171C=
c.314+171C= (n.314+171C=)
c.752+171C= (n.752+171C=)
c.651+171C= (n.651+171C=)
c.78+171C= (n.78+171C=)
16g.88836030G>TCA2526396740GALNSc.633+171C>A (n.633+171C>A)
n.4042+171C>A
c.417+171C>A (n.417+171C>A)
n.221+171C>A
n.335+171C>A
c.314+171C>A (n.314+171C>A)
c.752+171C>A (n.752+171C>A)
c.651+171C>A (n.651+171C>A)
c.78+171C>A (n.78+171C>A)
 dbSNP
16g.88836032T>ACA980349337GALNSc.633+169A>T (n.633+169A>T)
n.4042+169A>T
c.417+169A>T (n.417+169A>T)
n.221+169A>T
n.335+169A>T
c.314+169A>T (n.314+169A>T)
c.752+169A>T (n.752+169A>T)
c.651+169A>T (n.651+169A>T)
c.78+169A>T (n.78+169A>T)
 dbSNP gnomAD v3 gnomAD v4
16g.88836032T>CCA286403056GALNSc.633+169A>G (n.633+169A>G)
n.4042+169A>G
c.417+169A>G (n.417+169A>G)
n.221+169A>G
n.335+169A>G
c.314+169A>G (n.314+169A>G)
c.752+169A>G (n.752+169A>G)
c.651+169A>G (n.651+169A>G)
c.78+169A>G (n.78+169A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.88836032T=CA2241325039GALNSc.633+169A= (n.633+169A=)
n.4042+169A=
c.417+169A= (n.417+169A=)
n.221+169A=
n.335+169A=
c.314+169A= (n.314+169A=)
c.752+169A= (n.752+169A=)
c.651+169A= (n.651+169A=)
c.78+169A= (n.78+169A=)
16g.88836035C=CA2241325040GALNSc.633+166G= (n.633+166G=)
n.4042+166G=
c.417+166G= (n.417+166G=)
n.221+166G=
n.335+166G=
c.314+166G= (n.314+166G=)
c.752+166G= (n.752+166G=)
c.651+166G= (n.651+166G=)
c.78+166G= (n.78+166G=)
16g.88836035C>GCA286403061GALNSc.633+166G>C (n.633+166G>C)
n.4042+166G>C
c.417+166G>C (n.417+166G>C)
n.221+166G>C
n.335+166G>C
c.314+166G>C (n.314+166G>C)
c.752+166G>C (n.752+166G>C)
c.651+166G>C (n.651+166G>C)
c.78+166G>C (n.78+166G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836036C=CA2241325042GALNSc.633+165G= (n.633+165G=)
n.4042+165G=
c.417+165G= (n.417+165G=)
n.221+165G=
n.335+165G=
c.314+165G= (n.314+165G=)
c.752+165G= (n.752+165G=)
c.651+165G= (n.651+165G=)
c.78+165G= (n.78+165G=)
16g.88836036C>GCA2241325041GALNSc.633+165G>C (n.633+165G>C)
n.4042+165G>C
c.417+165G>C (n.417+165G>C)
n.221+165G>C
n.335+165G>C
c.314+165G>C (n.314+165G>C)
c.752+165G>C (n.752+165G>C)
c.651+165G>C (n.651+165G>C)
c.78+165G>C (n.78+165G>C)
 dbSNP
16g.88836036C>TCA286403065GALNSc.633+165G>A (n.633+165G>A)
n.4042+165G>A
c.417+165G>A (n.417+165G>A)
n.221+165G>A
n.335+165G>A
c.314+165G>A (n.314+165G>A)
c.752+165G>A (n.752+165G>A)
c.651+165G>A (n.651+165G>A)
c.78+165G>A (n.78+165G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836036_88836037insATCACCTGCAGCA980349344GALNSc.633+164_633+165insCTGCAGGTGAT (n.633+164_633+165insCTGCAGGTGAT)
n.4042+164_4042+165insCTGCAGGTGAT
c.417+164_417+165insCTGCAGGTGAT (n.417+164_417+165insCTGCAGGTGAT)
n.221+164_221+165insCTGCAGGTGAT
n.335+164_335+165insCTGCAGGTGAT
c.314+164_314+165insCTGCAGGTGAT (n.314+164_314+165insCTGCAGGTGAT)
c.752+164_752+165insCTGCAGGTGAT (n.752+164_752+165insCTGCAGGTGAT)
c.651+164_651+165insCTGCAGGTGAT (n.651+164_651+165insCTGCAGGTGAT)
c.78+164_78+165insCTGCAGGTGAT (n.78+164_78+165insCTGCAGGTGAT)
 gnomAD v3 gnomAD v4
16g.88836037G>ACA286403072GALNSc.633+164C>T (n.633+164C>T)
n.4042+164C>T
c.417+164C>T (n.417+164C>T)
n.221+164C>T
n.335+164C>T
c.314+164C>T (n.314+164C>T)
c.752+164C>T (n.752+164C>T)
c.651+164C>T (n.651+164C>T)
c.78+164C>T (n.78+164C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836037G=CA2241325043GALNSc.633+164C= (n.633+164C=)
n.4042+164C=
c.417+164C= (n.417+164C=)
n.221+164C=
n.335+164C=
c.314+164C= (n.314+164C=)
c.752+164C= (n.752+164C=)
c.651+164C= (n.651+164C=)
c.78+164C= (n.78+164C=)
16g.88836037G>TCA914139086GALNSc.633+164C>A (n.633+164C>A)
n.4042+164C>A
c.417+164C>A (n.417+164C>A)
n.221+164C>A
n.335+164C>A
c.314+164C>A (n.314+164C>A)
c.752+164C>A (n.752+164C>A)
c.651+164C>A (n.651+164C>A)
c.78+164C>A (n.78+164C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836038_88836039insAGATCTGGGTGAGGTTGGCTTCCA2532596510GALNSc.633+162_633+163insGAAGCCAACCTCACCCAGATCT (n.633+162_633+163insGAAGCCAACCTCACCCAGATCT)
n.4042+162_4042+163insGAAGCCAACCTCACCCAGATCT
c.417+162_417+163insGAAGCCAACCTCACCCAGATCT (n.417+162_417+163insGAAGCCAACCTCACCCAGATCT)
n.221+162_221+163insGAAGCCAACCTCACCCAGATCT
n.335+162_335+163insGAAGCCAACCTCACCCAGATCT
c.314+162_314+163insGAAGCCAACCTCACCCAGATCT (n.314+162_314+163insGAAGCCAACCTCACCCAGATCT)
c.752+162_752+163insGAAGCCAACCTCACCCAGATCT (n.752+162_752+163insGAAGCCAACCTCACCCAGATCT)
c.651+162_651+163insGAAGCCAACCTCACCCAGATCT (n.651+162_651+163insGAAGCCAACCTCACCCAGATCT)
c.78+162_78+163insGAAGCCAACCTCACCCAGATCT (n.78+162_78+163insGAAGCCAACCTCACCCAGATCT)
16g.88836039C=CA2241325044GALNSc.633+162G= (n.633+162G=)
n.4042+162G=
c.417+162G= (n.417+162G=)
n.221+162G=
n.335+162G=
c.314+162G= (n.314+162G=)
c.752+162G= (n.752+162G=)
c.651+162G= (n.651+162G=)
c.78+162G= (n.78+162G=)
16g.88836039C>GCA2241325045GALNSc.633+162G>C (n.633+162G>C)
n.4042+162G>C
c.417+162G>C (n.417+162G>C)
n.221+162G>C
n.335+162G>C
c.314+162G>C (n.314+162G>C)
c.752+162G>C (n.752+162G>C)
c.651+162G>C (n.651+162G>C)
c.78+162G>C (n.78+162G>C)
 dbSNP gnomAD v3 gnomAD v4
16g.88836040_88836046dupCA2808066940GALNSc.633+156_633+162dup (n.633+156_633+162dup)
n.4042+156_4042+162dup
c.417+156_417+162dup (n.417+156_417+162dup)
n.221+156_221+162dup
n.335+156_335+162dup
c.314+156_314+162dup (n.314+156_314+162dup)
c.752+156_752+162dup (n.752+156_752+162dup)
c.651+156_651+162dup (n.651+156_651+162dup)
c.78+156_78+162dup (n.78+156_78+162dup)
16g.88836039_88836040insACCTGCAGGTAGATCA980349349GALNSc.633+161_633+162insATCTACCTGCAGGT (n.633+161_633+162insATCTACCTGCAGGT)
n.4042+161_4042+162insATCTACCTGCAGGT
c.417+161_417+162insATCTACCTGCAGGT (n.417+161_417+162insATCTACCTGCAGGT)
n.221+161_221+162insATCTACCTGCAGGT
n.335+161_335+162insATCTACCTGCAGGT
c.314+161_314+162insATCTACCTGCAGGT (n.314+161_314+162insATCTACCTGCAGGT)
c.752+161_752+162insATCTACCTGCAGGT (n.752+161_752+162insATCTACCTGCAGGT)
c.651+161_651+162insATCTACCTGCAGGT (n.651+161_651+162insATCTACCTGCAGGT)
c.78+161_78+162insATCTACCTGCAGGT (n.78+161_78+162insATCTACCTGCAGGT)
 gnomAD v3 gnomAD v4
16g.88836040C=CA2241325046GALNSc.633+161G= (n.633+161G=)
n.4042+161G=
c.417+161G= (n.417+161G=)
n.221+161G=
n.335+161G=
c.314+161G= (n.314+161G=)
c.752+161G= (n.752+161G=)
c.651+161G= (n.651+161G=)
c.78+161G= (n.78+161G=)
16g.88836040C>GCA624207036GALNSc.633+161G>C (n.633+161G>C)
n.4042+161G>C
c.417+161G>C (n.417+161G>C)
n.221+161G>C
n.335+161G>C
c.314+161G>C (n.314+161G>C)
c.752+161G>C (n.752+161G>C)
c.651+161G>C (n.651+161G>C)
c.78+161G>C (n.78+161G>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88836043A>TCA2733026600GALNSc.633+158T>A (n.633+158T>A)
n.4042+158T>A
c.417+158T>A (n.417+158T>A)
n.221+158T>A
n.335+158T>A
c.314+158T>A (n.314+158T>A)
c.752+158T>A (n.752+158T>A)
c.651+158T>A (n.651+158T>A)
c.78+158T>A (n.78+158T>A)
 dbSNP

Number of alleles fetched