NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
NM_000158.4(GBE1):c.143+10G>T
|
rs9820490
|
0.12510
|
NM_000158.4(GBE1):c.579G>A (p.Lys193=)
|
rs17019144
|
0.09257
|
NM_000158.4(GBE1):c.342C>T (p.Tyr114=)
|
rs13320194
|
0.08854
|
NM_000158.4(GBE1):c.1519A>G (p.Thr507Ala)
|
rs2228389
|
0.06703
|
NM_000158.4(GBE1):c.1716C>T (p.Asp572=)
|
rs2229520
|
0.01610
|
NM_000158.4(GBE1):c.176T>C (p.Ile59Thr)
|
rs28763904
|
0.00604
|
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
|
rs35196441
|
0.00569
|
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr)
|
rs193074572
|
0.00529
|
NM_000158.4(GBE1):c.429+35T>C
|
rs151091415
|
0.00389
|
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp)
|
rs28763902
|
0.00388
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro)
|
rs186942296
|
0.00063
|
NM_000158.4(GBE1):c.24G>A (p.Ala8=)
|
rs28763906
|
0.00062
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr)
|
rs201166587
|
0.00019
|
NM_000158.4(GBE1):c.429+5T>G
|
rs373240805
|
0.00014
|
NM_000158.4(GBE1):c.993-19T>C
|
rs374576644
|
0.00012
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000158.4(GBE1):c.143+6G>A
|
rs371048718
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
0.00002
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
NM_000158.4(GBE1):c.1300C>T (p.Arg434Ter)
|
rs781198373
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.1619-16G>A
|
rs546023161
|
0.00001
|
NM_000158.4(GBE1):c.327A>G (p.Pro109=)
|
rs1200105843
|
0.00001
|
NM_000158.4(GBE1):c.709T>C (p.Leu237=)
|
rs886038263
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000158.4(GBE1):c.-9C>A
|
|
|
NM_000158.4(GBE1):c.1336-11C>A
|
|
|
NM_000158.4(GBE1):c.1432G>T (p.Glu478Ter)
|
|
|
NM_000158.4(GBE1):c.1842T>C (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.2053-3358_2053-3350delinsTGTTTTTTACATTACAGGT
|
|
|
NM_000158.4(GBE1):c.2053-3364G>A
|
|
|
NM_000158.4(GBE1):c.216del (p.Tyr73fs)
|
rs2107168870
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.505del (p.Asp169fs)
|
rs1370223073
|
|
NM_000158.4(GBE1):c.649A>G (p.Lys217Glu)
|
|
|