NM_000512.5(GALNS):c.269G>A (p.Arg90Gln)
|
rs754731091
|
0.00003
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.184A>T (p.Met62Leu)
|
rs1367462378
|
0.00001
|
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr)
|
rs979373729
|
0.00001
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
|
rs772413313
|
0.00001
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
|
rs764070268
|
0.00001
|
NC_000016.9:g.(?_88884395)_(88884552_?)del
|
|
|
NC_000016.9:g.(?_88893090)_(88904193_?)del
|
|
|
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
|
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr)
|
rs1267791852
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000512.5(GALNS):c.1242+1G>C
|
|
|
NM_000512.5(GALNS):c.1242+1G>T
|
rs2142993764
|
|
NM_000512.5(GALNS):c.1364+2_1364+15del
|
|
|
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
|
|
|
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly)
|
rs145798311
|
|
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
|
|
|
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
|
|
|
NM_000512.5(GALNS):c.245-2A>G
|
rs1352162269
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
|
|
|
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
|
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
NM_000512.5(GALNS):c.422+1G>T
|
rs1966940003
|
|
NM_000512.5(GALNS):c.422+2T>G
|
rs2143004585
|
|
NM_000512.5(GALNS):c.425A>C (p.His142Pro)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.425A>T (p.His142Leu)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
NM_000512.5(GALNS):c.566+1G>A
|
|
|
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
|
|
|
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
|
|
|
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu)
|
rs2143001453
|
|
NM_000512.5(GALNS):c.679T>G (p.Phe227Val)
|
rs2143001417
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
|
|
|
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
|
|
|
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
|
|
|
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp)
|
rs776715466
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|