|
NM_000512.5(GALNS):c.1431G>A (p.Glu477=)
|
rs2303271
|
0.40780
|
|
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val)
|
rs114703967
|
0.03559
|
|
NM_000512.5(GALNS):c.1413C>T (p.Val471=)
|
rs73251084
|
0.01159
|
|
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe)
|
rs151296605
|
0.00596
|
|
NM_000512.5(GALNS):c.1443C>T (p.Pro481=)
|
rs147536058
|
0.00336
|
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
|
NM_000512.5(GALNS):c.1414G>A (p.Val472Ile)
|
rs147290567
|
0.00013
|
|
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
|
rs750739641
|
0.00009
|
|
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)
|
rs760260706
|
0.00004
|
|
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)
|
rs141171091
|
0.00004
|
|
NM_000512.5(GALNS):c.1365-20C>T
|
rs1044328485
|
0.00003
|
|
NM_000512.5(GALNS):c.1374C>T (p.Ser458=)
|
rs534204869
|
0.00003
|
|
NM_000512.5(GALNS):c.1476G>A (p.Ala492=)
|
rs371056948
|
0.00002
|
|
NM_000512.5(GALNS):c.1377C>T (p.Ala459=)
|
rs757704061
|
0.00001
|
|
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
|
rs781512359
|
0.00001
|
|
NM_000512.5(GALNS):c.1445C>T (p.Ala482Val)
|
rs1909820489
|
0.00001
|
|
NM_000512.5(GALNS):c.1461C>T (p.Asn487=)
|
rs1273463889
|
0.00001
|
|
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)
|
rs753344649
|
0.00001
|
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
|
NC_000016.10:g.(?_88813734)_(88841972_88842705)del
|
|
|
|
NM_000512.5(GALNS):c.1365-10C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-14CT[2]
|
|
|
|
NM_000512.5(GALNS):c.1365-17G>C
|
|
|
|
NM_000512.5(GALNS):c.1365-19C>T
|
|
|
|
NM_000512.5(GALNS):c.1365-1G>A
|
rs1909832718
|
|
|
NM_000512.5(GALNS):c.1365-1G>C
|
rs1909832718
|
|
|
NM_000512.5(GALNS):c.1365-20C>G
|
|
|
|
NM_000512.5(GALNS):c.1365-2A>G
|
|
|
|
NM_000512.5(GALNS):c.1365-4C>G
|
rs558654277
|
|
|
NM_000512.5(GALNS):c.1365-9T>C
|
|
|
|
NM_000512.5(GALNS):c.1374dup (p.Ala459fs)
|
|
|
|
NM_000512.5(GALNS):c.1387G>T (p.Glu463Ter)
|
|
|
|
NM_000512.5(GALNS):c.1392C>A (p.Ala464=)
|
|
|
|
NM_000512.5(GALNS):c.1398C>T (p.Ser466=)
|
|
|
|
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
|
|
|
|
NM_000512.5(GALNS):c.1407C>G (p.Thr469=)
|
|
|
|
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro)
|
rs2142982603
|
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1410G>C (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1410G>T (p.Ser470=)
|
rs763263800
|
|
|
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter)
|
rs118204439
|
|
|
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
|
rs1909825123
|
|
|
NM_000512.5(GALNS):c.1420C>T (p.Gln474Ter)
|
rs1330564240
|
|
|
NM_000512.5(GALNS):c.1422G>A (p.Gln474=)
|
|
|
|
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)
|
rs749297663
|
|
|
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro)
|
rs1597524240
|
|
|
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
|
rs1909818289
|
|
|
NM_000512.5(GALNS):c.1434C>T (p.Ala478=)
|
|
|
|
NM_000512.5(GALNS):c.1440C>T (p.Val480=)
|
|
|
|
NM_000512.5(GALNS):c.1446G>A (p.Ala482=)
|
|
|
|
NM_000512.5(GALNS):c.1447C>T (p.Gln483Ter)
|
rs2142982313
|
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
|
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)
|
rs1482155729
|
|
|
NM_000512.5(GALNS):c.1458C>T (p.Leu486=)
|
|
|
|
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)
|
rs118204440
|
|
|
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile)
|
rs118204440
|
|
|
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys)
|
rs1273463889
|
|
|
NM_000512.5(GALNS):c.1464G>A (p.Val488=)
|
|
|
|
NM_000512.5(GALNS):c.1467C>T (p.Cys489=)
|
|
|
|
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
|
|
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
|
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)
|
rs2142982062
|
|
|
NM_000512.5(GALNS):c.1482+1G>A
|
rs2142982054
|
|
|
NM_000512.5(GALNS):c.1482+2T>C
|
|
|
|
NM_000512.5(GALNS):c.1482+5G>A
|
rs2142982032
|
|
|
NM_000512.5(GALNS):c.1482+5G>C
|
|
|
|
NM_000512.5(GALNS):c.1482+9C>T
|
|
|