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.88835925_88836004delCA2634892620GALNSc.634-139_634-60del (n.634-139_634-60del)
n.4043-139_4043-60del
c.418-139_418-60del (n.418-139_418-60del)
n.222-139_222-60del
n.336-139_336-60del
c.315-139_315-60del (n.315-139_315-60del)
c.753-139_753-60del (n.753-139_753-60del)
c.652-139_652-60del (n.652-139_652-60del)
c.79-139_79-60del (n.79-139_79-60del)
 gnomAD v4
16g.88835925_88836005delinsACGTCCCACGGGGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCA2241324947GALNSc.634-156_634-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT (n.634-156_634-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT)
n.4043-156_4043-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT
c.418-156_418-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT (n.418-156_418-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT)
n.222-156_222-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT
n.336-156_336-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT
c.315-156_315-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT (n.315-156_315-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT)
c.753-156_753-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT (n.753-156_753-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT)
c.652-156_652-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT (n.652-156_652-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT)
c.79-156_79-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT (n.79-156_79-76delinsCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCCCGTGGGACGT)
16g.88835939_88835978delCA624207023GALNSc.634-116_634-77del (n.634-116_634-77del)
n.4043-116_4043-77del
c.418-116_418-77del (n.418-116_418-77del)
n.222-116_222-77del
n.336-116_336-77del
c.315-116_315-77del (n.315-116_315-77del)
c.753-116_753-77del (n.753-116_753-77del)
c.652-116_652-77del (n.652-116_652-77del)
c.79-116_79-77del (n.79-116_79-77del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88835943_88836022delCA980349183GALNSc.634-156_634-77del (n.634-156_634-77del)
n.4043-156_4043-77del
c.418-156_418-77del (n.418-156_418-77del)
n.222-156_222-77del
n.336-156_336-77del
c.315-156_315-77del (n.315-156_315-77del)
c.753-156_753-77del (n.753-156_753-77del)
c.652-156_652-77del (n.652-156_652-77del)
c.79-156_79-77del (n.79-156_79-77del)
 dbSNP gnomAD v3 gnomAD v4
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.88835937_88835978delinsGCGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCCA2241324960GALNSc.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC (n.634-129_634-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC)
n.4043-129_4043-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC
c.418-129_418-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC (n.418-129_418-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC)
n.222-129_222-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC
n.336-129_336-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC
c.315-129_315-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC (n.315-129_315-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC)
c.753-129_753-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC (n.753-129_753-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC)
c.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC (n.652-129_652-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC)
c.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC (n.79-129_79-88delinsGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGC)
16g.88835938_88835978delCA2241324961GALNSc.634-129_634-89del (n.634-129_634-89del)
n.4043-129_4043-89del
c.418-129_418-89del (n.418-129_418-89del)
n.222-129_222-89del
n.336-129_336-89del
c.315-129_315-89del (n.315-129_315-89del)
c.753-129_753-89del (n.753-129_753-89del)
c.652-129_652-89del (n.652-129_652-89del)
c.79-129_79-89del (n.79-129_79-89del)
 dbSNP
16g.88835939_88835979delinsGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCACA2241324964GALNSc.634-130_634-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC (n.634-130_634-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC)
n.4043-130_4043-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC
c.418-130_418-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC (n.418-130_418-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC)
n.222-130_222-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC
n.336-130_336-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC
c.315-130_315-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC (n.315-130_315-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC)
c.753-130_753-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC (n.753-130_753-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC)
c.652-130_652-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC (n.652-130_652-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC)
c.79-130_79-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC (n.79-130_79-90delinsTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTC)
16g.88835979_88836018dupCA980349196GALNSc.634-130_634-91dup (n.634-130_634-91dup)
n.4043-130_4043-91dup
c.418-130_418-91dup (n.418-130_418-91dup)
n.222-130_222-91dup
n.336-130_336-91dup
c.315-130_315-91dup (n.315-130_315-91dup)
c.753-130_753-91dup (n.753-130_753-91dup)
c.652-130_652-91dup (n.652-130_652-91dup)
c.79-130_79-91dup (n.79-130_79-91dup)
 dbSNP gnomAD v3 gnomAD v4
16g.88835979_88836018delCA624207024GALNSc.634-130_634-91del (n.634-130_634-91del)
n.4043-130_4043-91del
c.418-130_418-91del (n.418-130_418-91del)
n.222-130_222-91del
n.336-130_336-91del
c.315-130_315-91del (n.315-130_315-91del)
c.753-130_753-91del (n.753-130_753-91del)
c.652-130_652-91del (n.652-130_652-91del)
c.79-130_79-91del (n.79-130_79-91del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88835943_88836023delinsTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCAAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACGGGGCGAGGACA2241324969GALNSc.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.634-174_634-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
n.4043-174_4043-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
c.418-174_418-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.418-174_418-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
n.222-174_222-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
n.336-174_336-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA
c.315-174_315-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.315-174_315-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
c.753-174_753-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.753-174_753-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
c.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.652-174_652-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
c.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA (n.79-174_79-94delinsTCCTCGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAACCTTGCCCCGTGGGACGCGTGGGGACGGGGACCGCACCAA)
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.88835964_88835967delCA980349230GALNSc.634-118_634-115del (n.634-118_634-115del)
n.4043-118_4043-115del
c.418-118_418-115del (n.418-118_418-115del)
n.222-118_222-115del
n.336-118_336-115del
c.315-118_315-115del (n.315-118_315-115del)
c.753-118_753-115del (n.753-118_753-115del)
c.652-118_652-115del (n.652-118_652-115del)
c.79-118_79-115del (n.79-118_79-115del)
 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.88835967G>ACA286403006GALNSc.634-118C>T (n.634-118C>T)
n.4043-118C>T
c.418-118C>T (n.418-118C>T)
n.222-118C>T
n.336-118C>T
c.315-118C>T (n.315-118C>T)
c.753-118C>T (n.753-118C>T)
c.652-118C>T (n.652-118C>T)
c.79-118C>T (n.79-118C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88835967G>CCA980349237GALNSc.634-118C>G (n.634-118C>G)
n.4043-118C>G
c.418-118C>G (n.418-118C>G)
n.222-118C>G
n.336-118C>G
c.315-118C>G (n.315-118C>G)
c.753-118C>G (n.753-118C>G)
c.652-118C>G (n.652-118C>G)
c.79-118C>G (n.79-118C>G)
 gnomAD v3 gnomAD v4
16g.88835967G=CA2241324987GALNSc.634-118C= (n.634-118C=)
n.4043-118C=
c.418-118C= (n.418-118C=)
n.222-118C=
n.336-118C=
c.315-118C= (n.315-118C=)
c.753-118C= (n.753-118C=)
c.652-118C= (n.652-118C=)
c.79-118C= (n.79-118C=)
16g.88835967G>TCA2634892703GALNSc.634-118C>A (n.634-118C>A)
n.4043-118C>A
c.418-118C>A (n.418-118C>A)
n.222-118C>A
n.336-118C>A
c.315-118C>A (n.315-118C>A)
c.753-118C>A (n.753-118C>A)
c.652-118C>A (n.652-118C>A)
c.79-118C>A (n.79-118C>A)
 gnomAD v4
16g.88835968_88835976delCA2634892702GALNSc.634-126_634-118del (n.634-126_634-118del)
n.4043-126_4043-118del
c.418-126_418-118del (n.418-126_418-118del)
n.222-126_222-118del
n.336-126_336-118del
c.315-126_315-118del (n.315-126_315-118del)
c.753-126_753-118del (n.753-126_753-118del)
c.652-126_652-118del (n.652-126_652-118del)
c.79-126_79-118del (n.79-126_79-118del)
 gnomAD v4
16g.88835968T>ACA2634892704GALNSc.634-119A>T (n.634-119A>T)
n.4043-119A>T
c.418-119A>T (n.418-119A>T)
n.222-119A>T
n.336-119A>T
c.315-119A>T (n.315-119A>T)
c.753-119A>T (n.753-119A>T)
c.652-119A>T (n.652-119A>T)
c.79-119A>T (n.79-119A>T)
 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.88835970C>ACA2634892705GALNSc.634-121G>T (n.634-121G>T)
n.4043-121G>T
c.418-121G>T (n.418-121G>T)
n.222-121G>T
n.336-121G>T
c.315-121G>T (n.315-121G>T)
c.753-121G>T (n.753-121G>T)
c.652-121G>T (n.652-121G>T)
c.79-121G>T (n.79-121G>T)
 gnomAD v4
16g.88835971C>ACA2634892706GALNSc.634-122G>T (n.634-122G>T)
n.4043-122G>T
c.418-122G>T (n.418-122G>T)
n.222-122G>T
n.336-122G>T
c.315-122G>T (n.315-122G>T)
c.753-122G>T (n.753-122G>T)
c.652-122G>T (n.652-122G>T)
c.79-122G>T (n.79-122G>T)
 gnomAD v4
16g.88835971C>TCA2634892707GALNSc.634-122G>A (n.634-122G>A)
n.4043-122G>A
c.418-122G>A (n.418-122G>A)
n.222-122G>A
n.336-122G>A
c.315-122G>A (n.315-122G>A)
c.753-122G>A (n.753-122G>A)
c.652-122G>A (n.652-122G>A)
c.79-122G>A (n.79-122G>A)
 gnomAD v4
16g.88835973C>ACA2634892708GALNSc.634-124G>T (n.634-124G>T)
n.4043-124G>T
c.418-124G>T (n.418-124G>T)
n.222-124G>T
n.336-124G>T
c.315-124G>T (n.315-124G>T)
c.753-124G>T (n.753-124G>T)
c.652-124G>T (n.652-124G>T)
c.79-124G>T (n.79-124G>T)
 gnomAD v4
16g.88835973C=CA2241324988GALNSc.634-124G= (n.634-124G=)
n.4043-124G=
c.418-124G= (n.418-124G=)
n.222-124G=
n.336-124G=
c.315-124G= (n.315-124G=)
c.753-124G= (n.753-124G=)
c.652-124G= (n.652-124G=)
c.79-124G= (n.79-124G=)
16g.88835973C>TCA286403007GALNSc.634-124G>A (n.634-124G>A)
n.4043-124G>A
c.418-124G>A (n.418-124G>A)
n.222-124G>A
n.336-124G>A
c.315-124G>A (n.315-124G>A)
c.753-124G>A (n.753-124G>A)
c.652-124G>A (n.652-124G>A)
c.79-124G>A (n.79-124G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88835974G>ACA286403008GALNSc.634-125C>T (n.634-125C>T)
n.4043-125C>T
c.418-125C>T (n.418-125C>T)
n.222-125C>T
n.336-125C>T
c.315-125C>T (n.315-125C>T)
c.753-125C>T (n.753-125C>T)
c.652-125C>T (n.652-125C>T)
c.79-125C>T (n.79-125C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.88835974G>CCA2634892709GALNSc.634-125C>G (n.634-125C>G)
n.4043-125C>G
c.418-125C>G (n.418-125C>G)
n.222-125C>G
n.336-125C>G
c.315-125C>G (n.315-125C>G)
c.753-125C>G (n.753-125C>G)
c.652-125C>G (n.652-125C>G)
c.79-125C>G (n.79-125C>G)
 gnomAD v4
16g.88835974G=CA2241324989GALNSc.634-125C= (n.634-125C=)
n.4043-125C=
c.418-125C= (n.418-125C=)
n.222-125C=
n.336-125C=
c.315-125C= (n.315-125C=)
c.753-125C= (n.753-125C=)
c.652-125C= (n.652-125C=)
c.79-125C= (n.79-125C=)
16g.88835975G>ACA2732931984GALNSc.634-126C>T (n.634-126C>T)
n.4043-126C>T
c.418-126C>T (n.418-126C>T)
n.222-126C>T
n.336-126C>T
c.315-126C>T (n.315-126C>T)
c.753-126C>T (n.753-126C>T)
c.652-126C>T (n.652-126C>T)
c.79-126C>T (n.79-126C>T)
 dbSNP
16g.88835975G>CCA2634892711GALNSc.634-126C>G (n.634-126C>G)
n.4043-126C>G
c.418-126C>G (n.418-126C>G)
n.222-126C>G
n.336-126C>G
c.315-126C>G (n.315-126C>G)
c.753-126C>G (n.753-126C>G)
c.652-126C>G (n.652-126C>G)
c.79-126C>G (n.79-126C>G)
 gnomAD v4
16g.88835975G=CA2241324990GALNSc.634-126C= (n.634-126C=)
n.4043-126C=
c.418-126C= (n.418-126C=)
n.222-126C=
n.336-126C=
c.315-126C= (n.315-126C=)
c.753-126C= (n.753-126C=)
c.652-126C= (n.652-126C=)
c.79-126C= (n.79-126C=)
16g.88835975G>TCA286403009GALNSc.634-126C>A (n.634-126C>A)
n.4043-126C>A
c.418-126C>A (n.418-126C>A)
n.222-126C>A
n.336-126C>A
c.315-126C>A (n.315-126C>A)
c.753-126C>A (n.753-126C>A)
c.652-126C>A (n.652-126C>A)
c.79-126C>A (n.79-126C>A)
 dbSNP gnomAD v3 gnomAD v4
16g.88835978_88835979insGAGGTTGGTGCGGTCCCCGTCCCCACGCGTCCCACAGGGCCA2808066928GALNSc.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC (n.634-126_634-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC)
n.4043-126_4043-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC
c.418-126_418-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC (n.418-126_418-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC)
n.222-126_222-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC
n.336-126_336-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC
c.315-126_315-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC (n.315-126_315-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC)
c.753-126_753-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC (n.753-126_753-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC)
c.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC (n.652-126_652-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC)
c.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC (n.79-126_79-125insTGTGGGACGCGTGGGGACGGGGACCGCACCAACCTCGCCC)
16g.88835976G>ACA2634892712GALNSc.634-127C>T (n.634-127C>T)
n.4043-127C>T
c.418-127C>T (n.418-127C>T)
n.222-127C>T
n.336-127C>T
c.315-127C>T (n.315-127C>T)
c.753-127C>T (n.753-127C>T)
c.652-127C>T (n.652-127C>T)
c.79-127C>T (n.79-127C>T)
 gnomAD v4
16g.88835976G=CA2241324991GALNSc.634-127C= (n.634-127C=)
n.4043-127C=
c.418-127C= (n.418-127C=)
n.222-127C=
n.336-127C=
c.315-127C= (n.315-127C=)
c.753-127C= (n.753-127C=)
c.652-127C= (n.652-127C=)
c.79-127C= (n.79-127C=)
16g.88835976G>TCA286403010GALNSc.634-127C>A (n.634-127C>A)
n.4043-127C>A
c.418-127C>A (n.418-127C>A)
n.222-127C>A
n.336-127C>A
c.315-127C>A (n.315-127C>A)
c.753-127C>A (n.753-127C>A)
c.652-127C>A (n.652-127C>A)
c.79-127C>A (n.79-127C>A)
 dbSNP gnomAD v3 gnomAD v4
16g.88835977G>ACA980349246GALNSc.634-128C>T (n.634-128C>T)
n.4043-128C>T
c.418-128C>T (n.418-128C>T)
n.222-128C>T
n.336-128C>T
c.315-128C>T (n.315-128C>T)
c.753-128C>T (n.753-128C>T)
c.652-128C>T (n.652-128C>T)
c.79-128C>T (n.79-128C>T)
 dbSNP gnomAD v3 gnomAD v4
16g.88835977G>CCA2634892714GALNSc.634-128C>G (n.634-128C>G)
n.4043-128C>G
c.418-128C>G (n.418-128C>G)
n.222-128C>G
n.336-128C>G
c.315-128C>G (n.315-128C>G)
c.753-128C>G (n.753-128C>G)
c.652-128C>G (n.652-128C>G)
c.79-128C>G (n.79-128C>G)
 dbSNP gnomAD v4
16g.88835977G=CA2241324992GALNSc.634-128C= (n.634-128C=)
n.4043-128C=
c.418-128C= (n.418-128C=)
n.222-128C=
n.336-128C=
c.315-128C= (n.315-128C=)
c.753-128C= (n.753-128C=)
c.652-128C= (n.652-128C=)
c.79-128C= (n.79-128C=)
16g.88835977G>TCA2634892713GALNSc.634-128C>A (n.634-128C>A)
n.4043-128C>A
c.418-128C>A (n.418-128C>A)
n.222-128C>A
n.336-128C>A
c.315-128C>A (n.315-128C>A)
c.753-128C>A (n.753-128C>A)
c.652-128C>A (n.652-128C>A)
c.79-128C>A (n.79-128C>A)
 gnomAD v4
16g.88835977_88835978delCA980349249GALNSc.634-129_634-128del (n.634-129_634-128del)
n.4043-129_4043-128del
c.418-129_418-128del (n.418-129_418-128del)
n.222-129_222-128del
n.336-129_336-128del
c.315-129_315-128del (n.315-129_315-128del)
c.753-129_753-128del (n.753-129_753-128del)
c.652-129_652-128del (n.652-129_652-128del)
c.79-129_79-128del (n.79-129_79-128del)
 gnomAD v3 gnomAD v4
16g.88835978C>ACA2634892715GALNSc.634-129G>T (n.634-129G>T)
n.4043-129G>T
c.418-129G>T (n.418-129G>T)
n.222-129G>T
n.336-129G>T
c.315-129G>T (n.315-129G>T)
c.753-129G>T (n.753-129G>T)
c.652-129G>T (n.652-129G>T)
c.79-129G>T (n.79-129G>T)
 gnomAD v4

Number of alleles fetched