NM_012243.3(SLC35A3):c.357A>G (p.Leu119=)
|
rs534252
|
0.22875
|
NM_012243.3(SLC35A3):c.-19+415A>G
|
rs11166383
|
0.03792
|
NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile)
|
rs74102304
|
0.03461
|
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile)
|
rs151009402
|
0.00095
|
NM_012243.3(SLC35A3):c.63T>G (p.Val21=)
|
rs141542767
|
0.00038
|
NM_012243.3(SLC35A3):c.933G>A (p.Leu311=)
|
rs139479346
|
0.00034
|
NM_012243.3(SLC35A3):c.753+9T>G
|
rs200265486
|
0.00027
|
NM_012243.3(SLC35A3):c.599C>G (p.Thr200Arg)
|
rs759966591
|
0.00019
|
NM_012243.3(SLC35A3):c.187+13G>A
|
rs373777045
|
0.00014
|
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=)
|
rs370315911
|
0.00010
|
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=)
|
rs574333514
|
0.00006
|
NM_012243.3(SLC35A3):c.525A>G (p.Gly175=)
|
rs374048002
|
0.00006
|
NM_012243.3(SLC35A3):c.886A>G (p.Ser296Gly)
|
rs141952252
|
0.00006
|
NM_012243.3(SLC35A3):c.409G>A (p.Gly137Ser)
|
rs764989689
|
0.00005
|
NM_012243.3(SLC35A3):c.754-10A>T
|
rs765112592
|
0.00005
|
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=)
|
rs773812783
|
0.00004
|
NM_012243.3(SLC35A3):c.42C>G (p.Val14=)
|
rs761558203
|
0.00004
|
NM_012243.3(SLC35A3):c.680dup (p.Asp227fs)
|
rs866803539
|
0.00004
|
NM_012243.3(SLC35A3):c.748C>T (p.Leu250Phe)
|
rs137902416
|
0.00004
|
NM_012243.3(SLC35A3):c.278T>C (p.Ile93Thr)
|
rs775651587
|
0.00003
|
NM_012243.3(SLC35A3):c.301C>T (p.Leu101=)
|
rs374410007
|
0.00003
|
NM_012243.3(SLC35A3):c.543A>T (p.Thr181=)
|
rs746093643
|
0.00003
|
NM_012243.3(SLC35A3):c.765C>T (p.Gly255=)
|
rs1226277790
|
0.00003
|
NM_012243.3(SLC35A3):c.888-6A>G
|
rs911464311
|
0.00003
|
NM_012243.3(SLC35A3):c.114A>G (p.Leu38=)
|
rs757521726
|
0.00002
|
NM_012243.3(SLC35A3):c.282T>C (p.Tyr94=)
|
rs912076311
|
0.00002
|
NM_012243.3(SLC35A3):c.347C>T (p.Thr116Met)
|
rs774263178
|
0.00002
|
NM_012243.3(SLC35A3):c.54C>G (p.Thr18=)
|
rs1409412016
|
0.00002
|
NM_012243.3(SLC35A3):c.74G>A (p.Arg25His)
|
rs903783945
|
0.00002
|
NM_012243.3(SLC35A3):c.753+8A>G
|
rs781326156
|
0.00002
|
NM_012243.3(SLC35A3):c.107G>A (p.Arg36His)
|
rs747574982
|
0.00001
|
NM_012243.3(SLC35A3):c.187+5G>A
|
rs1327580386
|
0.00001
|
NM_012243.3(SLC35A3):c.188-10T>C
|
rs1184385628
|
0.00001
|
NM_012243.3(SLC35A3):c.198A>G (p.Leu66=)
|
rs779900260
|
0.00001
|
NM_012243.3(SLC35A3):c.211C>T (p.Arg71Ter)
|
rs778502240
|
0.00001
|
NM_012243.3(SLC35A3):c.21C>T (p.Tyr7=)
|
rs775151826
|
0.00001
|
NM_012243.3(SLC35A3):c.252A>C (p.Thr84=)
|
rs760512680
|
0.00001
|
NM_012243.3(SLC35A3):c.329C>G (p.Ala110Gly)
|
rs1157464372
|
0.00001
|
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=)
|
rs761280692
|
0.00001
|
NM_012243.3(SLC35A3):c.405A>C (p.Lys135Asn)
|
rs754559092
|
0.00001
|
NM_012243.3(SLC35A3):c.406T>C (p.Leu136=)
|
rs1226291849
|
0.00001
|
NM_012243.3(SLC35A3):c.40G>A (p.Val14Ile)
|
rs1392040093
|
0.00001
|
NM_012243.3(SLC35A3):c.439T>C (p.Leu147=)
|
rs1055726
|
0.00001
|
NM_012243.3(SLC35A3):c.44T>C (p.Phe15Ser)
|
rs951750313
|
0.00001
|
NM_012243.3(SLC35A3):c.452T>A (p.Val151Asp)
|
rs1415934934
|
0.00001
|
NM_012243.3(SLC35A3):c.465+7A>C
|
rs1460106177
|
0.00001
|
NM_012243.3(SLC35A3):c.466-5T>C
|
rs767037243
|
0.00001
|
NM_012243.3(SLC35A3):c.470C>T (p.Pro157Leu)
|
rs890225731
|
0.00001
|
NM_012243.3(SLC35A3):c.528C>T (p.Leu176=)
|
rs1176598016
|
0.00001
|
NM_012243.3(SLC35A3):c.540C>T (p.Leu180=)
|
rs1031141712
|
0.00001
|
NM_012243.3(SLC35A3):c.546A>G (p.Ala182=)
|
rs745812553
|
0.00001
|
NM_012243.3(SLC35A3):c.585A>G (p.Lys195=)
|
rs747139028
|
0.00001
|
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)
|
rs370227291
|
0.00001
|
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=)
|
rs745545998
|
0.00001
|
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys)
|
rs753997682
|
0.00001
|
NM_012243.3(SLC35A3):c.754-3C>T
|
rs752607628
|
0.00001
|
NM_012243.3(SLC35A3):c.780T>C (p.Ala260=)
|
rs1287725180
|
0.00001
|
NM_012243.3(SLC35A3):c.842C>A (p.Ser281Ter)
|
rs1660258358
|
0.00001
|
NM_012243.3(SLC35A3):c.927T>G (p.Thr309=)
|
rs753983040
|
0.00001
|
NM_012243.3(SLC35A3):c.942T>C (p.Tyr314=)
|
rs1462890927
|
0.00001
|
NM_012243.3(SLC35A3):c.957A>G (p.Ala319=)
|
rs139278027
|
0.00001
|
NM_012243.3(SLC35A3):c.975A>G (p.Ala325=)
|
rs1425121794
|
0.00001
|
NC_000001.10:g.(?_100436083)_(100477099_?)del
|
|
|
NC_000001.10:g.(?_100436083)_(100480986_?)del
|
|
|
NC_000001.10:g.(?_100459083)_(100459307_?)del
|
|
|
NC_000001.10:g.(?_100472580)_(100472722_?)del
|
|
|
NC_000001.10:g.(?_100472580)_(100477099_?)del
|
|
|
NC_000001.11:g.(?_100007014)_(100011553_?)del
|
|
|
NM_012243.3(SLC35A3):c.-18-1G>T
|
rs2101132521
|
|
NM_012243.3(SLC35A3):c.103C>A (p.Pro35Thr)
|
rs1199734991
|
|
NM_012243.3(SLC35A3):c.11A>C (p.Asn4Thr)
|
rs1658214274
|
|
NM_012243.3(SLC35A3):c.120T>A (p.Ser40=)
|
|
|
NM_012243.3(SLC35A3):c.123A>G (p.Thr41=)
|
|
|
NM_012243.3(SLC35A3):c.126A>C (p.Ala42=)
|
|
|
NM_012243.3(SLC35A3):c.12C>T (p.Asn4=)
|
rs1658214469
|
|
NM_012243.3(SLC35A3):c.147G>A (p.Leu49=)
|
|
|
NM_012243.3(SLC35A3):c.150G>A (p.Lys50=)
|
rs2101133972
|
|
NM_012243.3(SLC35A3):c.168A>G (p.Leu56=)
|
|
|
NM_012243.3(SLC35A3):c.174C>G (p.Val58=)
|
rs1403560766
|
|
NM_012243.3(SLC35A3):c.174C>T (p.Val58=)
|
rs1403560766
|
|
NM_012243.3(SLC35A3):c.177C>T (p.Tyr59=)
|
rs1570588627
|
|
NM_012243.3(SLC35A3):c.183C>T (p.Asp61=)
|
|
|
NM_012243.3(SLC35A3):c.187+10T>C
|
rs2101134310
|
|
NM_012243.3(SLC35A3):c.187+18_187+19dup
|
|
|
NM_012243.3(SLC35A3):c.187+20G>T
|
|
|
NM_012243.3(SLC35A3):c.187+9C>A
|
|
|
NM_012243.3(SLC35A3):c.188-12_188-11del
|
|
|
NM_012243.3(SLC35A3):c.188-14A>T
|
|
|
NM_012243.3(SLC35A3):c.188-1G>T
|
|
|
NM_012243.3(SLC35A3):c.189A>G (p.Lys63=)
|
|
|
NM_012243.3(SLC35A3):c.191G>A (p.Cys64Tyr)
|
rs1658606601
|
|
NM_012243.3(SLC35A3):c.194G>T (p.Ser65Ile)
|
rs1658606953
|
|
NM_012243.3(SLC35A3):c.201A>G (p.Arg67=)
|
rs748968538
|
|
NM_012243.3(SLC35A3):c.205del (p.Ala68_Leu69insTer)
|
|
|
NM_012243.3(SLC35A3):c.210T>C (p.Asn70=)
|
rs1287781530
|
|
NM_012243.3(SLC35A3):c.21C>G (p.Tyr7Ter)
|
rs775151826
|
|
NM_012243.3(SLC35A3):c.231T>C (p.Ile77=)
|
|
|
NM_012243.3(SLC35A3):c.234T>G (p.Leu78=)
|
|
|
NM_012243.3(SLC35A3):c.234_235insTTTTTTTTNNNNNNNNNNTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATGATGAAATTCTT (p.Asn79fs)
|
rs2101195764
|
|
NM_012243.3(SLC35A3):c.248A>C (p.Glu83Ala)
|
|
|
NM_012243.3(SLC35A3):c.264T>C (p.Ala88=)
|
rs1570597448
|
|
NM_012243.3(SLC35A3):c.267T>A (p.Ile89=)
|
rs2101196455
|
|
NM_012243.3(SLC35A3):c.269C>T (p.Pro90Leu)
|
|
|
NM_012243.3(SLC35A3):c.285T>C (p.Thr95=)
|
|
|
NM_012243.3(SLC35A3):c.287_288del (p.Leu96fs)
|
|
|
NM_012243.3(SLC35A3):c.28C>T (p.Leu10=)
|
|
|
NM_012243.3(SLC35A3):c.300A>G (p.Leu100=)
|
rs2101196904
|
|
NM_012243.3(SLC35A3):c.303G>A (p.Leu101=)
|
rs1265111632
|
|
NM_012243.3(SLC35A3):c.313C>T (p.Leu105=)
|
|
|
NM_012243.3(SLC35A3):c.327T>C (p.Asp109=)
|
rs2101197308
|
|
NM_012243.3(SLC35A3):c.328G>A (p.Ala110Thr)
|
rs1658616708
|
|
NM_012243.3(SLC35A3):c.330A>G (p.Ala110=)
|
rs2101197432
|
|
NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=)
|
|
|
NM_012243.3(SLC35A3):c.340C>T (p.Gln114Ter)
|
|
|
NM_012243.3(SLC35A3):c.342+12A>G
|
|
|
NM_012243.3(SLC35A3):c.342+14A>G
|
|
|
NM_012243.3(SLC35A3):c.342+18C>A
|
|
|
NM_012243.3(SLC35A3):c.342+18_342+19del
|
|
|
NM_012243.3(SLC35A3):c.342+1G>A
|
rs1553201582
|
|
NM_012243.3(SLC35A3):c.342+22_342+25del
|
|
|
NM_012243.3(SLC35A3):c.342+4C>T
|
rs1658617673
|
|
NM_012243.3(SLC35A3):c.343-14G>C
|
|
|
NM_012243.3(SLC35A3):c.343-15T>C
|
|
|
NM_012243.3(SLC35A3):c.343-18T>C
|
|
|
NM_012243.3(SLC35A3):c.348G>T (p.Thr116=)
|
rs574333514
|
|
NM_012243.3(SLC35A3):c.355T>C (p.Leu119=)
|
rs1297581482
|
|
NM_012243.3(SLC35A3):c.384T>G (p.Ser128=)
|
rs2101309506
|
|
NM_012243.3(SLC35A3):c.38del (p.Leu13fs)
|
rs2101133098
|
|
NM_012243.3(SLC35A3):c.411T>A (p.Gly137=)
|
|
|
NM_012243.3(SLC35A3):c.414A>G (p.Val138=)
|
rs988629039
|
|
NM_012243.3(SLC35A3):c.423G>A (p.Trp141Ter)
|
|
|
NM_012243.3(SLC35A3):c.429C>T (p.Ser143=)
|
|
|
NM_012243.3(SLC35A3):c.42C>A (p.Val14=)
|
|
|
NM_012243.3(SLC35A3):c.430C>T (p.Leu144=)
|
|
|
NM_012243.3(SLC35A3):c.45del (p.Gln16fs)
|
|
|
NM_012243.3(SLC35A3):c.462A>G (p.Val154=)
|
rs1659292291
|
|
NM_012243.3(SLC35A3):c.465+18G>A
|
|
|
NM_012243.3(SLC35A3):c.466-12C>T
|
|
|
NM_012243.3(SLC35A3):c.466-18A>G
|
|
|
NM_012243.3(SLC35A3):c.466-9_466-7del
|
|
|
NM_012243.3(SLC35A3):c.471C>A (p.Pro157=)
|
|
|
NM_012243.3(SLC35A3):c.471C>T (p.Pro157=)
|
rs1269158450
|
|
NM_012243.3(SLC35A3):c.474A>G (p.Ser158=)
|
|
|
NM_012243.3(SLC35A3):c.477T>G (p.Asp159Glu)
|
|
|
NM_012243.3(SLC35A3):c.481C>T (p.Gln161Ter)
|
rs1553203137
|
|
NM_012243.3(SLC35A3):c.49A>G (p.Thr17Ala)
|
rs1334259370
|
|
NM_012243.3(SLC35A3):c.513T>C (p.Ser171=)
|
|
|
NM_012243.3(SLC35A3):c.514C>T (p.Gln172Ter)
|
rs398122524
|
|
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=)
|
rs1282648211
|
|
NM_012243.3(SLC35A3):c.520del (p.Phe173_Val174insTer)
|
rs1659624849
|
|
NM_012243.3(SLC35A3):c.534A>G (p.Ala178=)
|
|
|
NM_012243.3(SLC35A3):c.546A>T (p.Ala182=)
|
|
|
NM_012243.3(SLC35A3):c.548G>A (p.Cys183Tyr)
|
rs1184691007
|
|
NM_012243.3(SLC35A3):c.549T>C (p.Cys183=)
|
rs2101369309
|
|
NM_012243.3(SLC35A3):c.561C>T (p.Gly187=)
|
rs112451945
|
|
NM_012243.3(SLC35A3):c.570G>A (p.Gly190=)
|
rs1456464744
|
|
NM_012243.3(SLC35A3):c.570G>T (p.Gly190=)
|
|
|
NM_012243.3(SLC35A3):c.579T>C (p.Phe193=)
|
|
|
NM_012243.3(SLC35A3):c.588_589del (p.Leu197fs)
|
|
|
NM_012243.3(SLC35A3):c.594A>G (p.Lys198=)
|
rs2101370023
|
|
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)
|
rs1332257684
|
|
NM_012243.3(SLC35A3):c.595G>T (p.Glu199Ter)
|
rs2101370069
|
|
NM_012243.3(SLC35A3):c.597A>G (p.Glu199=)
|
|
|
NM_012243.3(SLC35A3):c.600A>C (p.Thr200=)
|
|
|
NM_012243.3(SLC35A3):c.605_606insGGAGGCAGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCACCCAGACAACAGAGCAAGACTCCGTCTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAACAAAACA (p.Ser203fs)
|
|
|
NM_012243.3(SLC35A3):c.609_610del (p.Trp205fs)
|
|
|
NM_012243.3(SLC35A3):c.612G>A (p.Val204=)
|
|
|
NM_012243.3(SLC35A3):c.615G>A (p.Trp205Ter)
|
|
|
NM_012243.3(SLC35A3):c.624T>C (p.Asn208=)
|
rs1010621391
|
|
NM_012243.3(SLC35A3):c.634+11_634+12dup
|
|
|
NM_012243.3(SLC35A3):c.634+12A>G
|
|
|
NM_012243.3(SLC35A3):c.634+15T>G
|
|
|
NM_012243.3(SLC35A3):c.634+2dup
|
rs1570615526
|
|
NM_012243.3(SLC35A3):c.635-14_635-13del
|
|
|
NM_012243.3(SLC35A3):c.635-2A>T
|
|
|
NM_012243.3(SLC35A3):c.635-3del
|
rs766308423
|
|
NM_012243.3(SLC35A3):c.635-3dup
|
|
|
NM_012243.3(SLC35A3):c.635-5_635-3del
|
rs766308423
|
|
NM_012243.3(SLC35A3):c.63T>A (p.Val21=)
|
rs141542767
|
|
NM_012243.3(SLC35A3):c.645A>T (p.Gly215=)
|
rs2101423658
|
|
NM_012243.3(SLC35A3):c.669A>G (p.Val223=)
|
rs2101424040
|
|
NM_012243.3(SLC35A3):c.672C>T (p.Tyr224=)
|
rs1660022175
|
|
NM_012243.3(SLC35A3):c.687A>G (p.Glu229=)
|
|
|
NM_012243.3(SLC35A3):c.693A>G (p.Val231=)
|
rs2101424477
|
|
NM_012243.3(SLC35A3):c.699del (p.Asn234fs)
|
|
|
NM_012243.3(SLC35A3):c.69A>T (p.Thr23=)
|
|
|
NM_012243.3(SLC35A3):c.700A>G (p.Asn234Asp)
|
rs1557844477
|
|
NM_012243.3(SLC35A3):c.702T>C (p.Asn234=)
|
rs2101424655
|
|
NM_012243.3(SLC35A3):c.711dup (p.Gln238fs)
|
rs1316448163
|
|
NM_012243.3(SLC35A3):c.724C>T (p.Arg242Ter)
|
rs1660025629
|
|
NM_012243.3(SLC35A3):c.725G>A (p.Arg242Gln)
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rs760633616
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NM_012243.3(SLC35A3):c.726A>C (p.Arg242=)
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NM_012243.3(SLC35A3):c.732C>T (p.Thr244=)
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NM_012243.3(SLC35A3):c.735G>A (p.Trp245Ter)
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NM_012243.3(SLC35A3):c.736A>G (p.Ile246Val)
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NM_012243.3(SLC35A3):c.738A>G (p.Ile246Met)
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NM_012243.3(SLC35A3):c.741A>G (p.Val247=)
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NM_012243.3(SLC35A3):c.74G>T (p.Arg25Leu)
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rs903783945
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NM_012243.3(SLC35A3):c.751C>T (p.Gln251Ter)
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rs1660027548
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NM_012243.3(SLC35A3):c.753+12A>G
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NM_012243.3(SLC35A3):c.753+15G>A
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NM_012243.3(SLC35A3):c.753+16T>C
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NM_012243.3(SLC35A3):c.753+7C>T
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NM_012243.3(SLC35A3):c.753+8A>T
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NM_012243.3(SLC35A3):c.753G>A (p.Gln251=)
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rs1660027769
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NM_012243.3(SLC35A3):c.754-18del
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NM_012243.3(SLC35A3):c.754-1G>T
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NM_012243.3(SLC35A3):c.754_755del (p.Ala252fs)
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NM_012243.3(SLC35A3):c.756A>G (p.Ala252=)
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NM_012243.3(SLC35A3):c.756A>T (p.Ala252=)
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NM_012243.3(SLC35A3):c.759T>C (p.Leu253=)
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rs2101455187
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NM_012243.3(SLC35A3):c.762A>T (p.Gly254=)
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rs2101455378
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NM_012243.3(SLC35A3):c.762_763dup (p.Gly255fs)
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rs1570625903
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NM_012243.3(SLC35A3):c.76T>A (p.Tyr26Asn)
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NM_012243.3(SLC35A3):c.771A>C (p.Val257=)
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NM_012243.3(SLC35A3):c.771A>G (p.Val257=)
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rs2101455469
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NM_012243.3(SLC35A3):c.778G>C (p.Ala260Pro)
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rs1557846118
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NM_012243.3(SLC35A3):c.780T>A (p.Ala260=)
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rs1287725180
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NM_012243.3(SLC35A3):c.783del (p.Ile262fs)
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NM_012243.3(SLC35A3):c.792T>C (p.Tyr264=)
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NM_012243.3(SLC35A3):c.796G>T (p.Asp266Tyr)
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NM_012243.3(SLC35A3):c.798T>C (p.Asp266=)
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NM_012243.3(SLC35A3):c.807A>G (p.Leu269=)
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NM_012243.3(SLC35A3):c.811G>T (p.Gly271Ter)
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NM_012243.3(SLC35A3):c.81C>G (p.Ser27=)
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NM_012243.3(SLC35A3):c.822C>T (p.Thr274=)
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rs2101456060
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NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs)
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NM_012243.3(SLC35A3):c.827T>C (p.Leu276Ser)
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rs1553204431
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NM_012243.3(SLC35A3):c.831G>A (p.Ser277=)
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rs749734512
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NM_012243.3(SLC35A3):c.843A>C (p.Ser281=)
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NM_012243.3(SLC35A3):c.846A>G (p.Thr282=)
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NM_012243.3(SLC35A3):c.852C>A (p.Ile284=)
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NM_012243.3(SLC35A3):c.858T>C (p.Tyr286=)
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rs1368296616
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NM_012243.3(SLC35A3):c.885C>T (p.Thr295=)
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rs1220907691
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NM_012243.3(SLC35A3):c.887+13_887+17del
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rs552844460
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NM_012243.3(SLC35A3):c.887+17T>G
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NM_012243.3(SLC35A3):c.887+25dup
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NM_012243.3(SLC35A3):c.887+7del
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rs1553204463
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NM_012243.3(SLC35A3):c.887+8G>A
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rs772703781
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NM_012243.3(SLC35A3):c.887G>A (p.Ser296Asn)
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rs1310530690
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NM_012243.3(SLC35A3):c.888-10T>A
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rs750539187
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NM_012243.3(SLC35A3):c.888-13del
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NM_012243.3(SLC35A3):c.891C>A (p.Val297=)
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NM_012243.3(SLC35A3):c.894T>C (p.Phe298=)
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NM_012243.3(SLC35A3):c.899_900delinsA (p.Leu300fs)
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rs2101501082
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NM_012243.3(SLC35A3):c.900T>A (p.Leu300=)
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NM_012243.3(SLC35A3):c.906C>T (p.Ala302=)
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rs2101501181
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NM_012243.3(SLC35A3):c.92AAG[2] (p.Glu33del)
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NM_012243.3(SLC35A3):c.945T>C (p.Asp315=)
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NM_012243.3(SLC35A3):c.951A>G (p.Lys317=)
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NM_012243.3(SLC35A3):c.959G>A (p.Gly320Glu)
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rs1553205151
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NM_012243.3(SLC35A3):c.966C>T (p.Pro322=)
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rs1406942729
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NM_012243.3(SLC35A3):c.96A>G (p.Glu32=)
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NM_012243.3(SLC35A3):c.975A>C (p.Ala325=)
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