NM_000153.4(GALC):c.391T>C (p.Trp131Arg)
|
rs746507078
|
0.00002
|
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln)
|
rs887930208
|
0.00001
|
NM_000153.4(GALC):c.1252-2A>G
|
rs1166863449
|
0.00001
|
NM_000153.4(GALC):c.1913G>T (p.Gly638Val)
|
rs1162671660
|
0.00001
|
NM_000153.4(GALC):c.582+1G>A
|
rs750881596
|
0.00001
|
NM_000153.4(GALC):c.592G>A (p.Glu198Lys)
|
rs909979938
|
0.00001
|
NM_000153.4(GALC):c.621+1G>A
|
rs759511006
|
0.00001
|
NM_000153.4(GALC):c.622-1G>T
|
rs1886499951
|
0.00001
|
NC_000014.9:g.(?_87934712)_(87949951_?)del
|
|
|
NC_000014.9:g.(?_87949835)_(87949941_?)del
|
|
|
NC_000014.9:g.(?_87963374)_(87963521_?)dup
|
|
|
NC_000014.9:g.(?_87965495)_(87968500_?)dup
|
|
|
NM_000153.4(GALC):c.1033+1G>A
|
rs2139996044
|
|
NM_000153.4(GALC):c.1034-1G>C
|
|
|
NM_000153.4(GALC):c.1034-2A>G
|
|
|
NM_000153.4(GALC):c.1151T>A (p.Ile384Asn)
|
|
|
NM_000153.4(GALC):c.1161+1del
|
rs1555381417
|
|
NM_000153.4(GALC):c.1161+2T>A
|
|
|
NM_000153.4(GALC):c.1162-1G>A
|
|
|
NM_000153.4(GALC):c.1251+1del
|
|
|
NM_000153.4(GALC):c.1276T>G (p.Trp426Gly)
|
rs2139961618
|
|
NM_000153.4(GALC):c.1338+1G>C
|
rs1555379669
|
|
NM_000153.4(GALC):c.1338+1G>T
|
rs1555379669
|
|
NM_000153.4(GALC):c.136G>C (p.Asp46His)
|
rs751975987
|
|
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile)
|
rs750431739
|
|
NM_000153.4(GALC):c.1469A>G (p.Tyr490Cys)
|
|
|
NM_000153.4(GALC):c.1592G>T (p.Arg531Leu)
|
rs200378205
|
|
NM_000153.4(GALC):c.1670+1G>A
|
rs749597090
|
|
NM_000153.4(GALC):c.1670+1G>T
|
rs749597090
|
|
NM_000153.4(GALC):c.169G>C (p.Gly57Arg)
|
rs11623
|
|
NM_000153.4(GALC):c.169G>T (p.Gly57Cys)
|
rs11623
|
|
NM_000153.4(GALC):c.170G>A (p.Gly57Asp)
|
|
|
NM_000153.4(GALC):c.170G>T (p.Gly57Val)
|
rs1217139658
|
|
NM_000153.4(GALC):c.1736C>A (p.Ala579Glu)
|
rs1423625765
|
|
NM_000153.4(GALC):c.1757G>A (p.Gly586Asp)
|
rs2139941444
|
|
NM_000153.4(GALC):c.175G>A (p.Gly59Ser)
|
rs764757647
|
|
NM_000153.4(GALC):c.175G>T (p.Gly59Cys)
|
|
|
NM_000153.4(GALC):c.1829A>C (p.Asp610Ala)
|
rs754732860
|
|
NM_000153.4(GALC):c.1859G>C (p.Gly620Ala)
|
|
|
NM_000153.4(GALC):c.1898C>G (p.Thr633Arg)
|
rs766762599
|
|
NM_000153.4(GALC):c.190_195+9del
|
rs1057517187
|
|
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter)
|
rs1884501856
|
|
NM_000153.4(GALC):c.199A>C (p.Thr67Pro)
|
rs2139759522
|
|
NM_000153.4(GALC):c.2002A>G (p.Thr668Ala)
|
rs1884498480
|
|
NM_000153.4(GALC):c.200C>A (p.Thr67Asn)
|
|
|
NM_000153.4(GALC):c.200C>T (p.Thr67Ile)
|
rs1478697086
|
|
NM_000153.4(GALC):c.203C>T (p.Ser68Phe)
|
rs1555383892
|
|
NM_000153.4(GALC):c.2042T>C (p.Val681Ala)
|
|
|
NM_000153.4(GALC):c.2042T>G (p.Val681Gly)
|
|
|
NM_000153.4(GALC):c.236G>C (p.Arg79Pro)
|
|
|
NM_000153.4(GALC):c.264+1G>A
|
rs1458925593
|
|
NM_000153.4(GALC):c.264+2T>C
|
|
|
NM_000153.4(GALC):c.264+3A>C
|
rs1567014543
|
|
NM_000153.4(GALC):c.316G>A (p.Gly106Arg)
|
|
|
NM_000153.4(GALC):c.329-1G>A
|
rs1365632054
|
|
NM_000153.4(GALC):c.329-2A>G
|
rs2139755114
|
|
NM_000153.4(GALC):c.349A>C (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.388G>C (p.Glu130Gln)
|
|
|
NM_000153.4(GALC):c.389A>G (p.Glu130Gly)
|
|
|
NM_000153.4(GALC):c.443-1G>C
|
rs1886890531
|
|
NM_000153.4(GALC):c.443-2A>G
|
rs1595236714
|
|
NM_000153.4(GALC):c.582+1G>C
|
|
|
NM_000153.4(GALC):c.582+2T>C
|
|
|
NM_000153.4(GALC):c.593A>C (p.Glu198Ala)
|
|
|
NM_000153.4(GALC):c.752+1G>A
|
rs2140016050
|
|
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
|
|
|
NM_000153.4(GALC):c.764C>A (p.Pro255His)
|
rs1886148366
|
|
NM_000153.4(GALC):c.822A>C (p.Glu274Asp)
|
|
|
NM_000153.4(GALC):c.851G>A (p.Gly284Asp)
|
|
|
NM_000153.4(GALC):c.856G>C (p.Gly286Arg)
|
|
|
NM_000153.4(GALC):c.868C>A (p.Arg290Ser)
|
|
|
NM_000153.4(GALC):c.940T>C (p.Tyr314His)
|
rs2139996434
|
|
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
|
|
|