|
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys)
|
rs118204443
|
0.00009
|
|
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys)
|
rs118204437
|
0.00006
|
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
|
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr)
|
rs118204448
|
0.00003
|
|
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)
|
rs770053354
|
0.00002
|
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
|
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)
|
rs757870208
|
0.00001
|
|
NM_000512.5(GALNS):c.1319del (p.Leu440fs)
|
rs1567517083
|
0.00001
|
|
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg)
|
rs199638097
|
0.00001
|
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
|
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys)
|
rs118204441
|
0.00001
|
|
NM_000512.5(GALNS):c.320-1G>T
|
rs1245504167
|
0.00001
|
|
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg)
|
rs398123438
|
0.00001
|
|
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter)
|
rs398123439
|
0.00001
|
|
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg)
|
rs775732598
|
0.00001
|
|
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
|
|
|
|
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)
|
rs755832705
|
|
|
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)
|
|
|
|
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val)
|
rs2142995782
|
|
|
NM_000512.5(GALNS):c.1142del (p.Pro381fs)
|
rs746086649
|
|
|
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)
|
|
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
|
NM_000512.5(GALNS):c.120+1G>A
|
rs911877265
|
|
|
NM_000512.5(GALNS):c.120+4A>G
|
rs1213209894
|
|
|
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter)
|
rs2142993804
|
|
|
NM_000512.5(GALNS):c.121-157C>T
|
|
|
|
NM_000512.5(GALNS):c.1242+1G>C
|
|
|
|
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter)
|
rs1295162107
|
|
|
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)
|
rs749297663
|
|
|
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)
|
rs2142982062
|
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
|
|
|
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
|
|
|
|
NM_000512.5(GALNS):c.245-2A>G
|
rs1352162269
|
|
|
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)
|
|
|
|
NM_000512.5(GALNS):c.320-1G>C
|
rs1245504167
|
|
|
NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)
|
|
|
|
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
|
|
|
|
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)
|
|
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
|
NM_000512.5(GALNS):c.675_676del (p.Phe227fs)
|
rs2143001422
|
|
|
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter)
|
rs1275386976
|
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
|
NM_000512.5(GALNS):c.892del (p.Glu298fs)
|
|
|
|
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp)
|
rs758439379
|
|
|
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)
|
|
|