NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn)
|
rs145236923
|
0.00129
|
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp)
|
rs149726976
|
0.00046
|
NM_024642.5(GALNT12):c.25C>G (p.Arg9Gly)
|
rs889395877
|
0.00043
|
NM_024642.5(GALNT12):c.566A>G (p.Asn189Ser)
|
rs183981750
|
0.00039
|
NM_024642.5(GALNT12):c.3G>A (p.Met1Ile)
|
rs267606839
|
0.00033
|
NM_024642.5(GALNT12):c.1339G>A (p.Gly447Arg)
|
rs376441206
|
0.00029
|
NM_024642.5(GALNT12):c.776T>C (p.Val259Ala)
|
rs147356342
|
0.00026
|
NM_024642.5(GALNT12):c.825G>T (p.Gln275His)
|
rs944134910
|
0.00023
|
NM_024642.5(GALNT12):c.303C>G (p.His101Gln)
|
rs201926457
|
0.00021
|
NM_024642.5(GALNT12):c.212C>T (p.Pro71Leu)
|
rs781089454
|
0.00019
|
NM_024642.5(GALNT12):c.329G>A (p.Arg110His)
|
rs374994372
|
0.00014
|
NM_024642.5(GALNT12):c.5G>T (p.Trp2Leu)
|
rs898798901
|
0.00014
|
NM_024642.5(GALNT12):c.868G>T (p.Val290Phe)
|
rs371949942
|
0.00014
|
NM_024642.5(GALNT12):c.1583A>G (p.Asn528Ser)
|
rs142096902
|
0.00011
|
NM_024642.5(GALNT12):c.890G>A (p.Arg297Gln)
|
rs751386354
|
0.00010
|
NM_024642.5(GALNT12):c.895C>T (p.Gln299Ter)
|
rs145557511
|
0.00009
|
NM_024642.5(GALNT12):c.164C>T (p.Thr55Ile)
|
rs927193317
|
0.00008
|
NM_024642.5(GALNT12):c.715G>C (p.Glu239Gln)
|
rs777144221
|
0.00008
|
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser)
|
rs375844934
|
0.00007
|
NM_024642.5(GALNT12):c.631G>A (p.Ala211Thr)
|
rs377671466
|
0.00007
|
NM_024642.5(GALNT12):c.784T>C (p.Trp262Arg)
|
rs373792075
|
0.00007
|
NM_024642.5(GALNT12):c.214G>T (p.Ala72Ser)
|
rs1439506011
|
0.00006
|
NM_024642.5(GALNT12):c.702C>G (p.His234Gln)
|
rs760069331
|
0.00006
|
NM_024642.5(GALNT12):c.1208G>A (p.Arg403His)
|
rs776700061
|
0.00005
|
NM_024642.5(GALNT12):c.427G>A (p.Ala143Thr)
|
rs765088669
|
0.00005
|
NM_024642.5(GALNT12):c.1118G>A (p.Arg373His)
|
rs920049418
|
0.00004
|
NM_024642.5(GALNT12):c.149C>A (p.Pro50Gln)
|
rs1431572320
|
0.00004
|
NM_024642.5(GALNT12):c.226G>A (p.Gly76Ser)
|
rs1036085286
|
0.00004
|
NM_024642.5(GALNT12):c.460C>T (p.Arg154Trp)
|
rs146834885
|
0.00004
|
NM_024642.5(GALNT12):c.691T>C (p.Cys231Arg)
|
rs751874783
|
0.00004
|
NM_024642.5(GALNT12):c.704A>G (p.Glu235Gly)
|
rs767946700
|
0.00004
|
NM_024642.5(GALNT12):c.796G>A (p.Glu266Lys)
|
rs759750251
|
0.00004
|
NM_024642.5(GALNT12):c.901C>T (p.Pro301Ser)
|
rs973765987
|
0.00004
|
NM_024642.5(GALNT12):c.925A>G (p.Thr309Ala)
|
rs773891669
|
0.00004
|
NM_024642.5(GALNT12):c.1213-3C>T
|
rs776520276
|
0.00003
|
NM_024642.5(GALNT12):c.1216C>A (p.Pro406Thr)
|
rs769837927
|
0.00003
|
NM_024642.5(GALNT12):c.1465G>A (p.Glu489Lys)
|
rs137917376
|
0.00003
|
NM_024642.5(GALNT12):c.1489C>T (p.Arg497Cys)
|
rs775453262
|
0.00003
|
NM_024642.5(GALNT12):c.1490G>T (p.Arg497Leu)
|
rs200112438
|
0.00003
|
NM_024642.5(GALNT12):c.1672A>G (p.Ser558Gly)
|
rs759843363
|
0.00003
|
NM_024642.5(GALNT12):c.1703A>G (p.Asn568Ser)
|
rs749874941
|
0.00003
|
NM_024642.5(GALNT12):c.266A>G (p.Glu89Gly)
|
rs1835414006
|
0.00003
|
NM_024642.5(GALNT12):c.325G>T (p.Asp109Tyr)
|
rs773910987
|
0.00003
|
NM_024642.5(GALNT12):c.472A>G (p.Ser158Gly)
|
rs140383365
|
0.00003
|
NM_024642.5(GALNT12):c.635G>A (p.Arg212Gln)
|
rs777425926
|
0.00003
|
NM_024642.5(GALNT12):c.829G>A (p.Gly277Ser)
|
rs200420144
|
0.00003
|
NM_024642.5(GALNT12):c.850G>A (p.Val284Met)
|
rs772292450
|
0.00003
|
NM_024642.5(GALNT12):c.1048G>C (p.Gly350Arg)
|
rs1040733256
|
0.00002
|
NM_024642.5(GALNT12):c.1108C>T (p.Pro370Ser)
|
rs191693197
|
0.00002
|
NM_024642.5(GALNT12):c.1145G>A (p.Arg382His)
|
rs868590153
|
0.00002
|
NM_024642.5(GALNT12):c.11G>A (p.Arg4His)
|
rs1186134407
|
0.00002
|
NM_024642.5(GALNT12):c.1207C>T (p.Arg403Cys)
|
rs201499778
|
0.00002
|
NM_024642.5(GALNT12):c.1277A>G (p.Lys426Arg)
|
rs753534837
|
0.00002
|
NM_024642.5(GALNT12):c.1310A>G (p.His437Arg)
|
rs139208509
|
0.00002
|
NM_024642.5(GALNT12):c.1406T>C (p.Ile469Thr)
|
rs753849573
|
0.00002
|
NM_024642.5(GALNT12):c.1446G>A (p.Met482Ile)
|
rs1060502970
|
0.00002
|
NM_024642.5(GALNT12):c.1554G>A (p.Met518Ile)
|
rs774123474
|
0.00002
|
NM_024642.5(GALNT12):c.1637A>G (p.Lys546Arg)
|
rs374166991
|
0.00002
|
NM_024642.5(GALNT12):c.1706C>T (p.Ser569Leu)
|
rs199958039
|
0.00002
|
NM_024642.5(GALNT12):c.317A>G (p.Tyr106Cys)
|
rs777089837
|
0.00002
|
NM_024642.5(GALNT12):c.32C>T (p.Pro11Leu)
|
rs1009053405
|
0.00002
|
NM_024642.5(GALNT12):c.372-5T>C
|
rs774029336
|
0.00002
|
NM_024642.5(GALNT12):c.404T>C (p.Leu135Ser)
|
rs370705797
|
0.00002
|
NM_024642.5(GALNT12):c.442G>T (p.Ala148Ser)
|
rs751656135
|
0.00002
|
NM_024642.5(GALNT12):c.542-4C>T
|
rs754152767
|
0.00002
|
NM_024642.5(GALNT12):c.749C>T (p.Ser250Leu)
|
rs756936867
|
0.00002
|
NM_024642.5(GALNT12):c.883A>G (p.Arg295Gly)
|
rs1234947730
|
0.00002
|
NM_024642.5(GALNT12):c.918-2A>C
|
rs778081163
|
0.00002
|
NM_024642.5(GALNT12):c.1005G>A (p.Trp335Ter)
|
rs751621695
|
0.00001
|
NM_024642.5(GALNT12):c.1021G>A (p.Glu341Lys)
|
rs1447125430
|
0.00001
|
NM_024642.5(GALNT12):c.1028C>T (p.Ser343Phe)
|
rs749861818
|
0.00001
|
NM_024642.5(GALNT12):c.1031T>G (p.Phe344Cys)
|
rs1427277664
|
0.00001
|
NM_024642.5(GALNT12):c.1046G>A (p.Cys349Tyr)
|
rs747921962
|
0.00001
|
NM_024642.5(GALNT12):c.1073G>A (p.Cys358Tyr)
|
rs143652350
|
0.00001
|
NM_024642.5(GALNT12):c.1087C>T (p.His363Tyr)
|
rs369793331
|
0.00001
|
NM_024642.5(GALNT12):c.1117C>T (p.Arg373Cys)
|
rs371373776
|
0.00001
|
NM_024642.5(GALNT12):c.1144C>T (p.Arg382Cys)
|
rs912533623
|
0.00001
|
NM_024642.5(GALNT12):c.1185C>G (p.Tyr395Ter)
|
rs1588453974
|
0.00001
|
NM_024642.5(GALNT12):c.1187A>G (p.Tyr396Cys)
|
rs1272530441
|
0.00001
|
NM_024642.5(GALNT12):c.1192C>T (p.Arg398Cys)
|
rs747755624
|
0.00001
|
NM_024642.5(GALNT12):c.1193G>A (p.Arg398His)
|
rs769674764
|
0.00001
|
NM_024642.5(GALNT12):c.1201C>T (p.Arg401Cys)
|
rs1060502968
|
0.00001
|
NM_024642.5(GALNT12):c.1202G>A (p.Arg401His)
|
rs1204571302
|
0.00001
|
NM_024642.5(GALNT12):c.1213-10G>T
|
rs768905490
|
0.00001
|
NM_024642.5(GALNT12):c.1231A>G (p.Thr411Ala)
|
rs1052099605
|
0.00001
|
NM_024642.5(GALNT12):c.1249C>T (p.Arg417Trp)
|
rs766728145
|
0.00001
|
NM_024642.5(GALNT12):c.1300C>A (p.Pro434Thr)
|
rs745821987
|
0.00001
|
NM_024642.5(GALNT12):c.1344+4A>C
|
rs763627322
|
0.00001
|
NM_024642.5(GALNT12):c.1366G>A (p.Asp456Asn)
|
rs763533761
|
0.00001
|
NM_024642.5(GALNT12):c.1368C>A (p.Asp456Glu)
|
rs1163186722
|
0.00001
|
NM_024642.5(GALNT12):c.1372T>A (p.Cys458Ser)
|
rs370060387
|
0.00001
|
NM_024642.5(GALNT12):c.1382A>G (p.Tyr461Cys)
|
rs764920800
|
0.00001
|
NM_024642.5(GALNT12):c.1386C>A (p.Asn462Lys)
|
rs143336366
|
0.00001
|
NM_024642.5(GALNT12):c.1393G>A (p.Asp465Asn)
|
rs777862536
|
0.00001
|
NM_024642.5(GALNT12):c.139G>A (p.Ala47Thr)
|
rs1376691635
|
0.00001
|
NM_024642.5(GALNT12):c.1418A>G (p.Gln473Arg)
|
rs757485456
|
0.00001
|
NM_024642.5(GALNT12):c.1458+7A>G
|
rs747500793
|
0.00001
|
NM_024642.5(GALNT12):c.1490G>A (p.Arg497His)
|
rs200112438
|
0.00001
|
NM_024642.5(GALNT12):c.1493A>G (p.Tyr498Cys)
|
rs955510774
|
0.00001
|
NM_024642.5(GALNT12):c.1501C>T (p.His501Tyr)
|
rs751724626
|
0.00001
|
NM_024642.5(GALNT12):c.1522G>A (p.Ala508Thr)
|
rs1487635356
|
0.00001
|
NM_024642.5(GALNT12):c.1525G>A (p.Val509Met)
|
rs999070067
|
0.00001
|
NM_024642.5(GALNT12):c.1546C>A (p.Leu516Ile)
|
rs748778853
|
0.00001
|
NM_024642.5(GALNT12):c.155C>T (p.Pro52Leu)
|
rs1588436185
|
0.00001
|
NM_024642.5(GALNT12):c.1581G>A (p.Glu527=)
|
rs1423291369
|
0.00001
|
NM_024642.5(GALNT12):c.1605G>T (p.Glu535Asp)
|
rs1443842231
|
0.00001
|
NM_024642.5(GALNT12):c.1607A>T (p.Asp536Val)
|
rs749758074
|
0.00001
|
NM_024642.5(GALNT12):c.1610G>T (p.Gly537Val)
|
rs756834523
|
0.00001
|
NM_024642.5(GALNT12):c.1640G>C (p.Cys547Ser)
|
rs368008649
|
0.00001
|
NM_024642.5(GALNT12):c.1655G>A (p.Arg552Lys)
|
rs1285871027
|
0.00001
|
NM_024642.5(GALNT12):c.1676T>G (p.Phe559Cys)
|
rs985361459
|
0.00001
|
NM_024642.5(GALNT12):c.1678G>A (p.Val560Ile)
|
rs752958995
|
0.00001
|
NM_024642.5(GALNT12):c.1685T>G (p.Leu562Arg)
|
rs764337232
|
0.00001
|
NM_024642.5(GALNT12):c.1722G>A (p.Trp574Ter)
|
rs146530383
|
0.00001
|
NM_024642.5(GALNT12):c.1736G>A (p.Arg579His)
|
rs367620732
|
0.00001
|
NM_024642.5(GALNT12):c.178C>G (p.Arg60Gly)
|
rs992673909
|
0.00001
|
NM_024642.5(GALNT12):c.188C>A (p.Pro63Gln)
|
rs1481280788
|
0.00001
|
NM_024642.5(GALNT12):c.193A>G (p.Met65Val)
|
rs1179298414
|
0.00001
|
NM_024642.5(GALNT12):c.199C>T (p.Arg67Trp)
|
rs1437425266
|
0.00001
|
NM_024642.5(GALNT12):c.224T>G (p.Leu75Arg)
|
rs1835413080
|
0.00001
|
NM_024642.5(GALNT12):c.22C>T (p.Arg8Trp)
|
rs1419382391
|
0.00001
|
NM_024642.5(GALNT12):c.268G>A (p.Glu90Lys)
|
rs1482512366
|
0.00001
|
NM_024642.5(GALNT12):c.281A>G (p.Gln94Arg)
|
rs868573205
|
0.00001
|
NM_024642.5(GALNT12):c.389A>T (p.Tyr130Phe)
|
rs1183648101
|
0.00001
|
NM_024642.5(GALNT12):c.413C>T (p.Thr138Ile)
|
rs1177006590
|
0.00001
|
NM_024642.5(GALNT12):c.446G>C (p.Trp149Ser)
|
rs755075072
|
0.00001
|
NM_024642.5(GALNT12):c.491C>T (p.Pro164Leu)
|
rs775040546
|
0.00001
|
NM_024642.5(GALNT12):c.521T>C (p.Val174Ala)
|
rs138795909
|
0.00001
|
NM_024642.5(GALNT12):c.528C>G (p.Asp176Glu)
|
rs780049629
|
0.00001
|
NM_024642.5(GALNT12):c.535G>A (p.Asp179Asn)
|
rs762919200
|
0.00001
|
NM_024642.5(GALNT12):c.545A>G (p.His182Arg)
|
rs1196473648
|
0.00001
|
NM_024642.5(GALNT12):c.550A>C (p.Lys184Gln)
|
rs1835864602
|
0.00001
|
NM_024642.5(GALNT12):c.593G>A (p.Arg198His)
|
rs1247073303
|
0.00001
|
NM_024642.5(GALNT12):c.609C>A (p.Asn203Lys)
|
rs370024536
|
0.00001
|
NM_024642.5(GALNT12):c.627_637del (p.Arg210fs)
|
rs781391307
|
0.00001
|
NM_024642.5(GALNT12):c.634C>T (p.Arg212Trp)
|
rs371040665
|
0.00001
|
NM_024642.5(GALNT12):c.674C>A (p.Thr225Asn)
|
rs867921388
|
0.00001
|
NM_024642.5(GALNT12):c.685T>A (p.Cys229Ser)
|
rs1289967555
|
0.00001
|
NM_024642.5(GALNT12):c.703G>A (p.Glu235Lys)
|
rs1256927785
|
0.00001
|
NM_024642.5(GALNT12):c.731+4C>T
|
rs756809019
|
0.00001
|
NM_024642.5(GALNT12):c.757G>A (p.Val253Met)
|
rs1304031845
|
0.00001
|
NM_024642.5(GALNT12):c.758T>C (p.Val253Ala)
|
rs1316883841
|
0.00001
|
NM_024642.5(GALNT12):c.764C>T (p.Pro255Leu)
|
rs758330743
|
0.00001
|
NM_024642.5(GALNT12):c.802C>G (p.Leu268Val)
|
rs772466597
|
0.00001
|
NM_024642.5(GALNT12):c.809A>G (p.Asn270Ser)
|
rs1416100156
|
0.00001
|
NM_024642.5(GALNT12):c.820C>T (p.Pro274Ser)
|
rs540061502
|
0.00001
|
NM_024642.5(GALNT12):c.832G>A (p.Gly278Ser)
|
rs751274362
|
0.00001
|
NM_024642.5(GALNT12):c.845G>A (p.Arg282Lys)
|
rs374578939
|
0.00001
|
NM_024642.5(GALNT12):c.857C>T (p.Thr286Met)
|
rs548915885
|
0.00001
|
NM_024642.5(GALNT12):c.884G>A (p.Arg295Lys)
|
rs762729583
|
0.00001
|
NM_024642.5(GALNT12):c.899C>T (p.Ser300Phe)
|
rs777263033
|
0.00001
|
NM_024642.5(GALNT12):c.923C>T (p.Pro308Leu)
|
rs537015652
|
0.00001
|
NC_000009.11:g.(?_101569981)_(101611374_?)del
|
|
|
NC_000009.11:g.(?_101569981)_(101611374_?)dup
|
|
|
NC_000009.11:g.(?_101585528)_(101602425_?)dup
|
|
|
NC_000009.11:g.(?_101594048)_(101597654_?)del
|
|
|
NC_000009.11:g.(?_101597521)_(101608415_?)del
|
|
|
NC_000009.12:g.98831772del
|
rs1836001667
|
|
NM_024642.4(GALNT12):c.732-?_1035+?del
|
|
|
NM_024642.5(GALNT12):c.-1C>T
|
|
|
NM_024642.5(GALNT12):c.-3C>A
|
|
|
NM_024642.5(GALNT12):c.-4_-3delinsA
|
rs1588436012
|
|
NM_024642.5(GALNT12):c.-5G>A
|
|
|
NM_024642.5(GALNT12):c.1000G>C (p.Val334Leu)
|
|
|
NM_024642.5(GALNT12):c.1000G>T (p.Val334Phe)
|
|
|
NM_024642.5(GALNT12):c.1007del (p.Gly336fs)
|
|
|
NM_024642.5(GALNT12):c.1015A>T (p.Asn339Tyr)
|
|
|
NM_024642.5(GALNT12):c.1016A>G (p.Asn339Ser)
|
|
|
NM_024642.5(GALNT12):c.1017C>A (p.Asn339Lys)
|
rs756614355
|
|
NM_024642.5(GALNT12):c.1019T>G (p.Leu340Arg)
|
rs1477940403
|
|
NM_024642.5(GALNT12):c.1024T>C (p.Phe342Leu)
|
|
|
NM_024642.5(GALNT12):c.1024T>G (p.Phe342Val)
|
rs1588452552
|
|
NM_024642.5(GALNT12):c.1035+1G>A
|
|
|
NM_024642.5(GALNT12):c.1035+1G>T
|
rs1363014898
|
|
NM_024642.5(GALNT12):c.1035+2dup
|
rs1588452568
|
|
NM_024642.5(GALNT12):c.1035+4_1035+7del
|
rs2118439332
|
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NM_024642.5(GALNT12):c.1035G>A (p.Arg345=)
|
|
|
NM_024642.5(GALNT12):c.1035G>T (p.Arg345Ser)
|
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|
NM_024642.5(GALNT12):c.1036-1G>A
|
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NM_024642.5(GALNT12):c.1036-1G>T
|
|
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NM_024642.5(GALNT12):c.1036-3C>T
|
|
|
NM_024642.5(GALNT12):c.1037T>A (p.Ile346Asn)
|
rs1836167752
|
|
NM_024642.5(GALNT12):c.1049G>A (p.Gly350Asp)
|
|
|
NM_024642.5(GALNT12):c.1054G>T (p.Val352Phe)
|
|
|
NM_024642.5(GALNT12):c.1054del (p.Val352fs)
|
rs1836168341
|
|
NM_024642.5(GALNT12):c.1064C>T (p.Thr355Ile)
|
|
|
NM_024642.5(GALNT12):c.1066C>T (p.His356Tyr)
|
|
|
NM_024642.5(GALNT12):c.1069C>A (p.Pro357Thr)
|
rs1223719188
|
|
NM_024642.5(GALNT12):c.1072T>C (p.Cys358Arg)
|
|
|
NM_024642.5(GALNT12):c.1072T>G (p.Cys358Gly)
|
|
|
NM_024642.5(GALNT12):c.1073G>T (p.Cys358Phe)
|
rs143652350
|
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NM_024642.5(GALNT12):c.1078C>T (p.His360Tyr)
|
|
|
NM_024642.5(GALNT12):c.1078del (p.His360fs)
|
|
|
NM_024642.5(GALNT12):c.1081G>A (p.Val361Ile)
|
|
|
NM_024642.5(GALNT12):c.1084G>A (p.Gly362Ser)
|
|
|
NM_024642.5(GALNT12):c.1085G>A (p.Gly362Asp)
|
|
|
NM_024642.5(GALNT12):c.1087C>G (p.His363Asp)
|
rs369793331
|
|
NM_024642.5(GALNT12):c.1088A>G (p.His363Arg)
|
|
|
NM_024642.5(GALNT12):c.1097C>T (p.Pro366Leu)
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NM_024642.5(GALNT12):c.10C>T (p.Arg4Cys)
|
|
|
NM_024642.5(GALNT12):c.1103A>G (p.Gln368Arg)
|
|
|
NM_024642.5(GALNT12):c.1105G>T (p.Ala369Ser)
|
|
|
NM_024642.5(GALNT12):c.1109C>T (p.Pro370Leu)
|
|
|
NM_024642.5(GALNT12):c.1114T>A (p.Ser372Thr)
|
|
|
NM_024642.5(GALNT12):c.1115C>G (p.Ser372Cys)
|
rs1836170300
|
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NM_024642.5(GALNT12):c.1115C>T (p.Ser372Phe)
|
|
|
NM_024642.5(GALNT12):c.1118G>T (p.Arg373Leu)
|
rs920049418
|
|
NM_024642.5(GALNT12):c.1119C>T (p.Arg373=)
|
rs1836170608
|
|
NM_024642.5(GALNT12):c.1126G>A (p.Ala376Thr)
|
|
|
NM_024642.5(GALNT12):c.1126G>C (p.Ala376Pro)
|
|
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NM_024642.5(GALNT12):c.1126G>T (p.Ala376Ser)
|
rs765486750
|
|
NM_024642.5(GALNT12):c.1127C>T (p.Ala376Val)
|
|
|
NM_024642.5(GALNT12):c.1132G>A (p.Ala378Thr)
|
rs1588453921
|
|
NM_024642.5(GALNT12):c.1132G>T (p.Ala378Ser)
|
|
|
NM_024642.5(GALNT12):c.1133C>T (p.Ala378Val)
|
rs1836171083
|
|
NM_024642.5(GALNT12):c.1135A>G (p.Asn379Asp)
|
|
|
NM_024642.5(GALNT12):c.1135A>T (p.Asn379Tyr)
|
rs1836171338
|
|
NM_024642.5(GALNT12):c.1136A>G (p.Asn379Ser)
|
|
|
NM_024642.5(GALNT12):c.1138A>G (p.Ser380Gly)
|
|
|
NM_024642.5(GALNT12):c.1147G>A (p.Ala383Thr)
|
rs1588453944
|
|
NM_024642.5(GALNT12):c.1150G>C (p.Ala384Pro)
|
|
|
NM_024642.5(GALNT12):c.1153G>A (p.Glu385Lys)
|
|
|
NM_024642.5(GALNT12):c.1154A>G (p.Glu385Gly)
|
|
|
NM_024642.5(GALNT12):c.1159T>C (p.Trp387Arg)
|
|
|
NM_024642.5(GALNT12):c.115G>A (p.Ala39Thr)
|
|
|
NM_024642.5(GALNT12):c.1164G>A (p.Met388Ile)
|
|
|
NM_024642.5(GALNT12):c.116C>T (p.Ala39Val)
|
|
|
NM_024642.5(GALNT12):c.1177G>A (p.Glu393Lys)
|
|
|
NM_024642.5(GALNT12):c.1177G>C (p.Glu393Gln)
|
rs754642218
|
|
NM_024642.5(GALNT12):c.1183T>C (p.Tyr395His)
|
|
|
NM_024642.5(GALNT12):c.1184A>G (p.Tyr395Cys)
|
|
|
NM_024642.5(GALNT12):c.1186T>G (p.Tyr396Asp)
|
|
|
NM_024642.5(GALNT12):c.1190A>G (p.His397Arg)
|
|
|
NM_024642.5(GALNT12):c.1193G>C (p.Arg398Pro)
|
|
|
NM_024642.5(GALNT12):c.1193G>T (p.Arg398Leu)
|
|
|
NM_024642.5(GALNT12):c.1196A>G (p.Asn399Ser)
|
|
|
NM_024642.5(GALNT12):c.1197C>G (p.Asn399Lys)
|
|
|
NM_024642.5(GALNT12):c.119A>C (p.Gln40Pro)
|
|
|
NM_024642.5(GALNT12):c.119A>T (p.Gln40Leu)
|
|
|
NM_024642.5(GALNT12):c.1204G>A (p.Ala402Thr)
|
|
|
NM_024642.5(GALNT12):c.1205C>G (p.Ala402Gly)
|
|
|
NM_024642.5(GALNT12):c.120G>C (p.Gln40His)
|
|
|
NM_024642.5(GALNT12):c.1211T>G (p.Leu404Trp)
|
|
|
NM_024642.5(GALNT12):c.1212+1G>T
|
|
|
NM_024642.5(GALNT12):c.1217C>T (p.Pro406Leu)
|
|
|
NM_024642.5(GALNT12):c.1225G>C (p.Asp409His)
|
|
|
NM_024642.5(GALNT12):c.1225del (p.Asp409fs)
|
|
|
NM_024642.5(GALNT12):c.1226A>T (p.Asp409Val)
|
|
|
NM_024642.5(GALNT12):c.1229T>C (p.Val410Ala)
|
|
|
NM_024642.5(GALNT12):c.122G>T (p.Arg41Leu)
|
|
|
NM_024642.5(GALNT12):c.1234G>A (p.Glu412Lys)
|
|
|
NM_024642.5(GALNT12):c.1238G>A (p.Arg413Lys)
|
|
|
NM_024642.5(GALNT12):c.1240A>C (p.Lys414Gln)
|
|
|
NM_024642.5(GALNT12):c.1241A>G (p.Lys414Arg)
|
rs892227579
|
|
NM_024642.5(GALNT12):c.1246C>T (p.Leu416Phe)
|
|
|
NM_024642.5(GALNT12):c.1250G>A (p.Arg417Gln)
|
|
|
NM_024642.5(GALNT12):c.1250G>T (p.Arg417Leu)
|
|
|
NM_024642.5(GALNT12):c.1261C>A (p.Gln421Lys)
|
|
|
NM_024642.5(GALNT12):c.1262A>G (p.Gln421Arg)
|
|
|
NM_024642.5(GALNT12):c.1263G>T (p.Gln421His)
|
rs2118469709
|
|
NM_024642.5(GALNT12):c.1265G>T (p.Cys422Phe)
|
rs755796376
|
|
NM_024642.5(GALNT12):c.1270G>C (p.Asp424His)
|
rs1554756832
|
|
NM_024642.5(GALNT12):c.1272C>G (p.Asp424Glu)
|
|
|
NM_024642.5(GALNT12):c.1274T>G (p.Phe425Cys)
|
|
|
NM_024642.5(GALNT12):c.1278G>T (p.Lys426Asn)
|
|
|
NM_024642.5(GALNT12):c.127G>C (p.Ala43Pro)
|
|
|
NM_024642.5(GALNT12):c.127G>T (p.Ala43Ser)
|
|
|
NM_024642.5(GALNT12):c.1281_1296del (p.Trp427fs)
|
rs1472145598
|
|
NM_024642.5(GALNT12):c.1294G>C (p.Val432Leu)
|
rs1588455792
|
|
NM_024642.5(GALNT12):c.1295T>C (p.Val432Ala)
|
rs1836250046
|
|
NM_024642.5(GALNT12):c.1295_1296insA (p.Tyr433fs)
|
rs1836250094
|
|
NM_024642.5(GALNT12):c.1296_1297del (p.Tyr433fs)
|
|
|
NM_024642.5(GALNT12):c.1297T>C (p.Tyr433His)
|
rs1836250153
|
|
NM_024642.5(GALNT12):c.1298A>G (p.Tyr433Cys)
|
rs1588455795
|
|
NM_024642.5(GALNT12):c.129CGGGGC[1] (p.42GA[2])
|
|
|
NM_024642.5(GALNT12):c.129CGGGGC[3] (p.42GA[4])
|
rs1194232383
|
|
NM_024642.5(GALNT12):c.1300C>G (p.Pro434Ala)
|
|
|
NM_024642.5(GALNT12):c.1306C>A (p.Leu436Met)
|
|
|
NM_024642.5(GALNT12):c.1306C>G (p.Leu436Val)
|
rs1297882734
|
|
NM_024642.5(GALNT12):c.1309C>T (p.His437Tyr)
|
|
|
NM_024642.5(GALNT12):c.130G>C (p.Gly44Arg)
|
rs2118256103
|
|
NM_024642.5(GALNT12):c.1316_1319del (p.Pro439fs)
|
|
|
NM_024642.5(GALNT12):c.1320G>A (p.Glu440=)
|
rs2118470345
|
|
NM_024642.5(GALNT12):c.1325G>A (p.Arg442Lys)
|
|
|
NM_024642.5(GALNT12):c.1325G>T (p.Arg442Met)
|
|
|
NM_024642.5(GALNT12):c.1327C>A (p.Pro443Thr)
|
rs201667596
|
|
NM_024642.5(GALNT12):c.1327C>G (p.Pro443Ala)
|
|
|
NM_024642.5(GALNT12):c.1328C>T (p.Pro443Leu)
|
|
|
NM_024642.5(GALNT12):c.1330G>A (p.Gly444Ser)
|
rs1588455845
|
|
NM_024642.5(GALNT12):c.1331G>T (p.Gly444Val)
|
rs2118470572
|
|
NM_024642.5(GALNT12):c.1333T>G (p.Phe445Val)
|
|
|
NM_024642.5(GALNT12):c.1337T>C (p.Phe446Ser)
|
|
|
NM_024642.5(GALNT12):c.1337_1338delinsCT (p.Phe446Ser)
|
|
|
NM_024642.5(GALNT12):c.1338C>G (p.Phe446Leu)
|
rs200788044
|
|
NM_024642.5(GALNT12):c.133G>A (p.Ala45Thr)
|
|
|
NM_024642.5(GALNT12):c.133_152del (p.Ala45fs)
|
|
|
NM_024642.5(GALNT12):c.133del (p.Ala45fs)
|
|
|
NM_024642.5(GALNT12):c.1341G>T (p.Gly447=)
|
|
|
NM_024642.5(GALNT12):c.1345-4T>G
|
|
|
NM_024642.5(GALNT12):c.1345-79_1364delinsTCAA
|
|
|
NM_024642.5(GALNT12):c.1346T>C (p.Leu449Pro)
|
|
|
NM_024642.5(GALNT12):c.134C>G (p.Ala45Gly)
|
rs1588436153
|
|
NM_024642.5(GALNT12):c.134_136delinsGCA (p.Ala45_Gly46delinsGlyArg)
|
|
|
NM_024642.5(GALNT12):c.1352A>T (p.Asn451Ile)
|
|
|
NM_024642.5(GALNT12):c.1367A>C (p.Asp456Ala)
|
|
|
NM_024642.5(GALNT12):c.136G>C (p.Gly46Arg)
|
|
|
NM_024642.5(GALNT12):c.136G>T (p.Gly46Trp)
|
|
|
NM_024642.5(GALNT12):c.136_139delinsAGAA (p.Gly46_Ala47delinsArgThr)
|
|
|
NM_024642.5(GALNT12):c.1375T>C (p.Phe459Leu)
|
|
|
NM_024642.5(GALNT12):c.137G>A (p.Gly46Glu)
|
|
|
NM_024642.5(GALNT12):c.137_142dup (p.Ala47_Ala48insGlyAla)
|
|
|
NM_024642.5(GALNT12):c.1387C>G (p.Pro463Ala)
|
|
|
NM_024642.5(GALNT12):c.138_139insTCCGGG (p.Gly46_Ala47insSerGly)
|
rs1220204419
|
|
NM_024642.5(GALNT12):c.1391C>G (p.Pro464Arg)
|
|
|
NM_024642.5(GALNT12):c.139G>T (p.Ala47Ser)
|
|
|
NM_024642.5(GALNT12):c.1402C>A (p.Gln468Lys)
|
|
|
NM_024642.5(GALNT12):c.1403A>G (p.Gln468Arg)
|
|
|
NM_024642.5(GALNT12):c.140C>A (p.Ala47Asp)
|
rs1304764723
|
|
NM_024642.5(GALNT12):c.140_141insCGGCGC (p.42_43GA[4])
|
rs1238412781
|
|
NM_024642.5(GALNT12):c.1414C>T (p.His472Tyr)
|
|
|
NM_024642.5(GALNT12):c.1414del (p.His472fs)
|
|
|
NM_024642.5(GALNT12):c.1415_1416dup (p.Gln473fs)
|
rs2118494161
|
|
NM_024642.5(GALNT12):c.1416C>G (p.His472Gln)
|
|
|
NM_024642.5(GALNT12):c.1417C>A (p.Gln473Lys)
|
|
|
NM_024642.5(GALNT12):c.1417C>T (p.Gln473Ter)
|
|
|
NM_024642.5(GALNT12):c.1418A>C (p.Gln473Pro)
|
|
|
NM_024642.5(GALNT12):c.1419G>T (p.Gln473His)
|
|
|
NM_024642.5(GALNT12):c.1420G>A (p.Val474Ile)
|
rs1588458096
|
|
NM_024642.5(GALNT12):c.1420G>C (p.Val474Leu)
|
|
|
NM_024642.5(GALNT12):c.1426C>G (p.Leu476Val)
|
|
|
NM_024642.5(GALNT12):c.1429T>C (p.Tyr477His)
|
|
|
NM_024642.5(GALNT12):c.142G>A (p.Ala48Thr)
|
|
|
NM_024642.5(GALNT12):c.1435T>A (p.Cys479Ser)
|
|
|
NM_024642.5(GALNT12):c.143C>T (p.Ala48Val)
|
|
|
NM_024642.5(GALNT12):c.1442G>A (p.Gly481Glu)
|
rs2118494434
|
|
NM_024642.5(GALNT12):c.1444A>T (p.Met482Leu)
|
|
|
NM_024642.5(GALNT12):c.1445T>C (p.Met482Thr)
|
|
|
NM_024642.5(GALNT12):c.1447G>A (p.Gly483Ser)
|
|
|
NM_024642.5(GALNT12):c.1448G>A (p.Gly483Asp)
|
|
|
NM_024642.5(GALNT12):c.1450C>T (p.Gln484Ter)
|
|
|
NM_024642.5(GALNT12):c.1456C>T (p.Gln486Ter)
|
rs2118494579
|
|
NM_024642.5(GALNT12):c.1459-10C>A
|
|
|
NM_024642.5(GALNT12):c.1459-15_1459-1dup
|
rs760180024
|
|
NM_024642.5(GALNT12):c.145G>A (p.Glu49Lys)
|
|
|
NM_024642.5(GALNT12):c.145G>C (p.Glu49Gln)
|
|
|
NM_024642.5(GALNT12):c.1462T>C (p.Phe488Leu)
|
|
|
NM_024642.5(GALNT12):c.1463T>G (p.Phe488Cys)
|
|
|
NM_024642.5(GALNT12):c.1465G>C (p.Glu489Gln)
|
|
|
NM_024642.5(GALNT12):c.1469A>G (p.Tyr490Cys)
|
|
|
NM_024642.5(GALNT12):c.1471A>G (p.Thr491Ala)
|
|
|
NM_024642.5(GALNT12):c.1472C>A (p.Thr491Lys)
|
|
|
NM_024642.5(GALNT12):c.1472C>T (p.Thr491Met)
|
rs267606840
|
|
NM_024642.5(GALNT12):c.1478A>G (p.Gln493Arg)
|
|
|
NM_024642.5(GALNT12):c.1489C>G (p.Arg497Gly)
|
|
|
NM_024642.5(GALNT12):c.148C>A (p.Pro50Thr)
|
rs1292953164
|
|
NM_024642.5(GALNT12):c.1492T>C (p.Tyr498His)
|
rs1588459528
|
|
NM_024642.5(GALNT12):c.1498A>G (p.Thr500Ala)
|
|
|
NM_024642.5(GALNT12):c.149C>G (p.Pro50Arg)
|
|
|
NM_024642.5(GALNT12):c.149C>T (p.Pro50Leu)
|
|
|
NM_024642.5(GALNT12):c.14C>T (p.Thr5Met)
|
|
|
NM_024642.5(GALNT12):c.1508C>A (p.Pro503His)
|
rs2118504858
|
|
NM_024642.5(GALNT12):c.1508C>T (p.Pro503Leu)
|
|
|
NM_024642.5(GALNT12):c.1511A>C (p.Glu504Ala)
|
|
|
NM_024642.5(GALNT12):c.1513G>A (p.Gly505Ser)
|
|
|
NM_024642.5(GALNT12):c.1520T>C (p.Ile507Thr)
|
rs1588459566
|
|
NM_024642.5(GALNT12):c.1523C>T (p.Ala508Val)
|
rs2118504994
|
|
NM_024642.5(GALNT12):c.1525G>C (p.Val509Leu)
|
|
|
NM_024642.5(GALNT12):c.152G>A (p.Gly51Glu)
|
|
|
NM_024642.5(GALNT12):c.1531G>A (p.Ala511Thr)
|
|
|
NM_024642.5(GALNT12):c.1532C>T (p.Ala511Val)
|
|
|
NM_024642.5(GALNT12):c.1534G>C (p.Gly512Arg)
|
|
|
NM_024642.5(GALNT12):c.1535G>A (p.Gly512Glu)
|
|
|
NM_024642.5(GALNT12):c.1539G>A (p.Met513Ile)
|
|
|
NM_024642.5(GALNT12):c.1540G>A (p.Asp514Asn)
|
|
|
NM_024642.5(GALNT12):c.1541A>T (p.Asp514Val)
|
rs1836406676
|
|
NM_024642.5(GALNT12):c.1542T>A (p.Asp514Glu)
|
|
|
NM_024642.5(GALNT12):c.1544C>A (p.Thr515Asn)
|
rs1836406734
|
|
NM_024642.5(GALNT12):c.1544C>T (p.Thr515Ile)
|
rs1836406734
|
|
NM_024642.5(GALNT12):c.154C>A (p.Pro52Thr)
|
|
|
NM_024642.5(GALNT12):c.154C>T (p.Pro52Ser)
|
rs980755584
|
|
NM_024642.5(GALNT12):c.1550T>C (p.Ile517Thr)
|
|
|
NM_024642.5(GALNT12):c.1551_1553del (p.Ile517del)
|
rs1416446800
|
|
NM_024642.5(GALNT12):c.1552A>G (p.Met518Val)
|
|
|
NM_024642.5(GALNT12):c.1552A>T (p.Met518Leu)
|
|
|
NM_024642.5(GALNT12):c.1553T>C (p.Met518Thr)
|
|
|
NM_024642.5(GALNT12):c.1553T>G (p.Met518Arg)
|
|
|
NM_024642.5(GALNT12):c.1555C>A (p.His519Asn)
|
|
|
NM_024642.5(GALNT12):c.155C>A (p.Pro52His)
|
|
|
NM_024642.5(GALNT12):c.1562G>A (p.Cys521Tyr)
|
|
|
NM_024642.5(GALNT12):c.1564G>A (p.Glu522Lys)
|
rs200303625
|
|
NM_024642.5(GALNT12):c.1564G>T (p.Glu522Ter)
|
rs200303625
|
|
NM_024642.5(GALNT12):c.1567G>A (p.Glu523Lys)
|
rs1836407668
|
|
NM_024642.5(GALNT12):c.1568A>G (p.Glu523Gly)
|
rs1169647634
|
|
NM_024642.5(GALNT12):c.1571C>G (p.Thr524Ser)
|
rs1836407900
|
|
NM_024642.5(GALNT12):c.1571C>T (p.Thr524Ile)
|
rs1836407900
|
|
NM_024642.5(GALNT12):c.1574C>A (p.Ala525Asp)
|
|
|
NM_024642.5(GALNT12):c.1576C>G (p.Pro526Ala)
|
|
|
NM_024642.5(GALNT12):c.1576C>T (p.Pro526Ser)
|
|
|
NM_024642.5(GALNT12):c.1581G>T (p.Glu527Asp)
|
|
|
NM_024642.5(GALNT12):c.1587G>C (p.Gln529His)
|
|
|
NM_024642.5(GALNT12):c.158C>A (p.Pro53Gln)
|
rs1209537944
|
|
NM_024642.5(GALNT12):c.158C>T (p.Pro53Leu)
|
rs1209537944
|
|
NM_024642.5(GALNT12):c.1591T>G (p.Phe531Val)
|
|
|
NM_024642.5(GALNT12):c.1599G>T (p.Leu533Phe)
|
|
|
NM_024642.5(GALNT12):c.15G>A (p.Thr5=)
|
rs1588436041
|
|
NM_024642.5(GALNT12):c.1606-2A>G
|
|
|
NM_024642.5(GALNT12):c.1606G>A (p.Asp536Asn)
|
|
|
NM_024642.5(GALNT12):c.1607A>G (p.Asp536Gly)
|
|
|
NM_024642.5(GALNT12):c.160C>T (p.Arg54Cys)
|
|
|
NM_024642.5(GALNT12):c.1612T>C (p.Ser538Pro)
|
|
|
NM_024642.5(GALNT12):c.1616T>A (p.Leu539Ter)
|
rs1836484153
|
|
NM_024642.5(GALNT12):c.1624G>A (p.Glu542Lys)
|
rs376894835
|
|
NM_024642.5(GALNT12):c.1624G>C (p.Glu542Gln)
|
|
|
NM_024642.5(GALNT12):c.1624G>T (p.Glu542Ter)
|
|
|
NM_024642.5(GALNT12):c.1630T>A (p.Ser544Thr)
|
rs1836484489
|
|
NM_024642.5(GALNT12):c.1631C>T (p.Ser544Phe)
|
|
|
NM_024642.5(GALNT12):c.163A>C (p.Thr55Pro)
|
|
|
NM_024642.5(GALNT12):c.163A>G (p.Thr55Ala)
|
|
|
NM_024642.5(GALNT12):c.163A>T (p.Thr55Ser)
|
rs1007797317
|
|
NM_024642.5(GALNT12):c.163_171dup (p.Thr55_Arg57dup)
|
rs1588436188
|
|
NM_024642.5(GALNT12):c.1641T>A (p.Cys547Ter)
|
rs1060502967
|
|
NM_024642.5(GALNT12):c.1645C>T (p.Gln549Ter)
|
|
|
NM_024642.5(GALNT12):c.164C>A (p.Thr55Asn)
|
|
|
NM_024642.5(GALNT12):c.1651G>T (p.Ala551Ser)
|
|
|
NM_024642.5(GALNT12):c.1652C>T (p.Ala551Val)
|
|
|
NM_024642.5(GALNT12):c.1657A>G (p.Lys553Glu)
|
|
|
NM_024642.5(GALNT12):c.1657A>T (p.Lys553Ter)
|
rs1331475779
|
|
NM_024642.5(GALNT12):c.1658A>G (p.Lys553Arg)
|
rs2118522958
|
|
NM_024642.5(GALNT12):c.1660G>A (p.Glu554Lys)
|
|
|
NM_024642.5(GALNT12):c.1663T>G (p.Ser555Ala)
|
rs1836485664
|
|
NM_024642.5(GALNT12):c.1664C>A (p.Ser555Ter)
|
rs761631783
|
|
NM_024642.5(GALNT12):c.1664C>T (p.Ser555Leu)
|
rs761631783
|
|
NM_024642.5(GALNT12):c.1667G>A (p.Ser556Asn)
|
|
|
NM_024642.5(GALNT12):c.1669G>A (p.Asp557Asn)
|
|
|
NM_024642.5(GALNT12):c.166C>G (p.Pro56Ala)
|
|
|
NM_024642.5(GALNT12):c.166_174dup (p.Pro56_Pro58dup)
|
rs1379414621
|
|
NM_024642.5(GALNT12):c.1676T>A (p.Phe559Tyr)
|
|
|
NM_024642.5(GALNT12):c.1677C>G (p.Phe559Leu)
|
|
|
NM_024642.5(GALNT12):c.167C>T (p.Pro56Leu)
|
rs1588436209
|
|
NM_024642.5(GALNT12):c.1682C>T (p.Pro561Leu)
|
|
|
NM_024642.5(GALNT12):c.1689A>C (p.Leu563Phe)
|
rs1836487597
|
|
NM_024642.5(GALNT12):c.1690C>G (p.Arg564Gly)
|
|
|
NM_024642.5(GALNT12):c.1690C>T (p.Arg564Ter)
|
rs200145205
|
|
NM_024642.5(GALNT12):c.1691G>T (p.Arg564Leu)
|
|
|
NM_024642.5(GALNT12):c.1693G>C (p.Asp565His)
|
rs1304382362
|
|
NM_024642.5(GALNT12):c.1697G>A (p.Cys566Tyr)
|
|
|
NM_024642.5(GALNT12):c.169C>T (p.Arg57Cys)
|
|
|
NM_024642.5(GALNT12):c.1700C>G (p.Thr567Ser)
|
|
|
NM_024642.5(GALNT12):c.1701del (p.Asn568fs)
|
|
|
NM_024642.5(GALNT12):c.1703A>C (p.Asn568Thr)
|
rs749874941
|
|
NM_024642.5(GALNT12):c.1703A>T (p.Asn568Ile)
|
|
|
NM_024642.5(GALNT12):c.1704C>A (p.Asn568Lys)
|
rs1588461400
|
|
NM_024642.5(GALNT12):c.1709A>G (p.Asp570Gly)
|
|
|
NM_024642.5(GALNT12):c.1717A>G (p.Lys573Glu)
|
rs1588461421
|
|
NM_024642.5(GALNT12):c.1719A>C (p.Lys573Asn)
|
|
|
NM_024642.5(GALNT12):c.171_184del (p.Pro58fs)
|
rs1237409974
|
|
NM_024642.5(GALNT12):c.1721G>C (p.Trp574Ser)
|
|
|
NM_024642.5(GALNT12):c.1726T>A (p.Phe576Ile)
|
|
|
NM_024642.5(GALNT12):c.1727T>A (p.Phe576Tyr)
|
|
|
NM_024642.5(GALNT12):c.1727_1728delinsAA (p.Phe576Ter)
|
|
|
NM_024642.5(GALNT12):c.1728C>A (p.Phe576Leu)
|
|
|
NM_024642.5(GALNT12):c.172C>G (p.Pro58Ala)
|
|
|
NM_024642.5(GALNT12):c.1730A>G (p.Lys577Arg)
|
|
|
NM_024642.5(GALNT12):c.1734G>C (p.Glu578Asp)
|
rs769553219
|
|
NM_024642.5(GALNT12):c.1735C>T (p.Arg579Cys)
|
|
|
NM_024642.5(GALNT12):c.1736G>C (p.Arg579Pro)
|
rs367620732
|
|
NM_024642.5(GALNT12):c.1736G>T (p.Arg579Leu)
|
|
|
NM_024642.5(GALNT12):c.1738A>G (p.Met580Val)
|
rs1060502966
|
|
NM_024642.5(GALNT12):c.1738A>T (p.Met580Leu)
|
|
|
NM_024642.5(GALNT12):c.1739T>C (p.Met580Thr)
|
rs1194642022
|
|
NM_024642.5(GALNT12):c.1739T>G (p.Met580Arg)
|
|
|
NM_024642.5(GALNT12):c.173C>G (p.Pro58Arg)
|
|
|
NM_024642.5(GALNT12):c.1740G>A (p.Met580Ile)
|
rs1588461456
|
|
NM_024642.5(GALNT12):c.1744T>C (p.Ter582Arg)
|
rs2118524217
|
|
NM_024642.5(GALNT12):c.1745G>T (p.Ter582Leu)
|
|
|
NM_024642.5(GALNT12):c.175G>C (p.Gly59Arg)
|
rs1835411866
|
|
NM_024642.5(GALNT12):c.176G>T (p.Gly59Val)
|
|
|
NM_024642.5(GALNT12):c.178C>T (p.Arg60Trp)
|
rs992673909
|
|
NM_024642.5(GALNT12):c.179G>A (p.Arg60Gln)
|
|
|
NM_024642.5(GALNT12):c.181C>T (p.Arg61Cys)
|
|
|
NM_024642.5(GALNT12):c.182G>A (p.Arg61His)
|
|
|
NM_024642.5(GALNT12):c.188C>G (p.Pro63Arg)
|
rs1481280788
|
|
NM_024642.5(GALNT12):c.188C>T (p.Pro63Leu)
|
|
|
NM_024642.5(GALNT12):c.190G>A (p.Val64Ile)
|
rs917032910
|
|
NM_024642.5(GALNT12):c.191T>A (p.Val64Asp)
|
|
|
NM_024642.5(GALNT12):c.191del (p.Val64fs)
|
|
|
NM_024642.5(GALNT12):c.193A>T (p.Met65Leu)
|
rs1179298414
|
|
NM_024642.5(GALNT12):c.194T>G (p.Met65Arg)
|
|
|
NM_024642.5(GALNT12):c.197C>T (p.Pro66Leu)
|
|
|
NM_024642.5(GALNT12):c.19C>G (p.Arg7Gly)
|
rs1835404781
|
|
NM_024642.5(GALNT12):c.19C>T (p.Arg7Trp)
|
|
|
NM_024642.5(GALNT12):c.1A>C (p.Met1Leu)
|
rs1259048855
|
|
NM_024642.5(GALNT12):c.1A>G (p.Met1Val)
|
rs1259048855
|
|
NM_024642.5(GALNT12):c.1A>T (p.Met1Leu)
|
|
|
NM_024642.5(GALNT12):c.203C>A (p.Pro68Gln)
|
|
|
NM_024642.5(GALNT12):c.203C>T (p.Pro68Leu)
|
|
|
NM_024642.5(GALNT12):c.205C>G (p.Pro69Ala)
|
rs1588436249
|
|
NM_024642.5(GALNT12):c.205C>T (p.Pro69Ser)
|
|
|
NM_024642.5(GALNT12):c.206C>G (p.Pro69Arg)
|
|
|
NM_024642.5(GALNT12):c.206C>T (p.Pro69Leu)
|
rs1588436255
|
|
NM_024642.5(GALNT12):c.208G>T (p.Val70Leu)
|
rs2118257028
|
|
NM_024642.5(GALNT12):c.20G>C (p.Arg7Pro)
|
|
|
NM_024642.5(GALNT12):c.211C>A (p.Pro71Thr)
|
|
|
NM_024642.5(GALNT12):c.211C>T (p.Pro71Ser)
|
|
|
NM_024642.5(GALNT12):c.214G>A (p.Ala72Thr)
|
|
|
NM_024642.5(GALNT12):c.215C>G (p.Ala72Gly)
|
|
|
NM_024642.5(GALNT12):c.220G>A (p.Ala74Thr)
|
|
|
NM_024642.5(GALNT12):c.226G>C (p.Gly76Arg)
|
rs1036085286
|
|
NM_024642.5(GALNT12):c.229G>A (p.Ala77Thr)
|
|
|
NM_024642.5(GALNT12):c.229G>C (p.Ala77Pro)
|
|
|
NM_024642.5(GALNT12):c.230_238dup (p.Ala77_Gly79dup)
|
rs1465375485
|
|
NM_024642.5(GALNT12):c.232C>G (p.Arg78Gly)
|
|
|
NM_024642.5(GALNT12):c.232C>T (p.Arg78Trp)
|
|
|
NM_024642.5(GALNT12):c.233G>A (p.Arg78Gln)
|
|
|
NM_024642.5(GALNT12):c.235G>A (p.Gly79Ser)
|
|
|
NM_024642.5(GALNT12):c.235G>T (p.Gly79Cys)
|
rs1588436285
|
|
NM_024642.5(GALNT12):c.236G>A (p.Gly79Asp)
|
rs1564243842
|
|
NM_024642.5(GALNT12):c.23G>C (p.Arg8Pro)
|
|
|
NM_024642.5(GALNT12):c.23G>T (p.Arg8Leu)
|
|
|
NM_024642.5(GALNT12):c.23_51dup (p.Arg18fs)
|
rs1355510080
|
|
NM_024642.5(GALNT12):c.242C>T (p.Ala81Val)
|
|
|
NM_024642.5(GALNT12):c.248G>T (p.Arg83Leu)
|
|
|
NM_024642.5(GALNT12):c.251T>C (p.Leu84Pro)
|
rs1420976719
|
|
NM_024642.5(GALNT12):c.254A>G (p.Gln85Arg)
|
|
|
NM_024642.5(GALNT12):c.254_274del (p.Gln85_Leu91del)
|
|
|
NM_024642.5(GALNT12):c.256C>G (p.Leu86Val)
|
|
|
NM_024642.5(GALNT12):c.256_282del (p.Leu86_Gln94del)
|
rs1588436292
|
|
NM_024642.5(GALNT12):c.256_282dup (p.Leu86_Gln94dup)
|
rs1588436292
|
|
NM_024642.5(GALNT12):c.257T>C (p.Leu86Pro)
|
|
|
NM_024642.5(GALNT12):c.25C>T (p.Arg9Cys)
|
|
|
NM_024642.5(GALNT12):c.260A>G (p.Gln87Arg)
|
|
|
NM_024642.5(GALNT12):c.262G>A (p.Gly88Ser)
|
rs1330744547
|
|
NM_024642.5(GALNT12):c.263G>T (p.Gly88Val)
|
rs1588436309
|
|
NM_024642.5(GALNT12):c.265G>A (p.Glu89Lys)
|
|
|
NM_024642.5(GALNT12):c.265G>T (p.Glu89Ter)
|
rs1374853820
|
|
NM_024642.5(GALNT12):c.26G>T (p.Arg9Leu)
|
|
|
NM_024642.5(GALNT12):c.270G>C (p.Glu90Asp)
|
|
|
NM_024642.5(GALNT12):c.271C>G (p.Leu91Val)
|
|
|
NM_024642.5(GALNT12):c.274C>G (p.Arg92Gly)
|
|
|
NM_024642.5(GALNT12):c.274C>T (p.Arg92Trp)
|
|
|
NM_024642.5(GALNT12):c.275G>A (p.Arg92Gln)
|
|
|
NM_024642.5(GALNT12):c.281A>T (p.Gln94Leu)
|
|
|
NM_024642.5(GALNT12):c.283G>A (p.Glu95Lys)
|
rs1346303585
|
|
NM_024642.5(GALNT12):c.283GAG[1] (p.Glu96del)
|
|
|
NM_024642.5(GALNT12):c.286G>A (p.Glu96Lys)
|
|
|
NM_024642.5(GALNT12):c.286_288delinsAAA (p.Glu96Lys)
|
rs1588436340
|
|
NM_024642.5(GALNT12):c.290G>C (p.Ser97Thr)
|
|
|
NM_024642.5(GALNT12):c.292G>T (p.Val98Leu)
|
|
|
NM_024642.5(GALNT12):c.295C>G (p.Arg99Gly)
|
|
|
NM_024642.5(GALNT12):c.295C>T (p.Arg99Trp)
|
|
|
NM_024642.5(GALNT12):c.299T>A (p.Leu100Gln)
|
|
|
NM_024642.5(GALNT12):c.2T>C (p.Met1Thr)
|
rs1005081558
|
|
NM_024642.5(GALNT12):c.2_13del (p.Met1_Arg4del)
|
rs1835403535
|
|
NM_024642.5(GALNT12):c.2_13dup (p.Arg4_Thr5insMetTrpGlyArg)
|
|
|
NM_024642.5(GALNT12):c.301C>T (p.His101Tyr)
|
rs758541440
|
|
NM_024642.5(GALNT12):c.302A>C (p.His101Pro)
|
|
|
NM_024642.5(GALNT12):c.310A>C (p.Asn104His)
|
|
|
NM_024642.5(GALNT12):c.312C>T (p.Asn104=)
|
|
|
NM_024642.5(GALNT12):c.313A>G (p.Ile105Val)
|
|
|
NM_024642.5(GALNT12):c.313A>T (p.Ile105Phe)
|
|
|
NM_024642.5(GALNT12):c.314T>A (p.Ile105Asn)
|
rs1332254128
|
|
NM_024642.5(GALNT12):c.314del (p.Ile105fs)
|
|
|
NM_024642.5(GALNT12):c.322A>C (p.Ser108Arg)
|
|
|
NM_024642.5(GALNT12):c.322A>G (p.Ser108Gly)
|
|
|
NM_024642.5(GALNT12):c.322A>T (p.Ser108Cys)
|
|
|
NM_024642.5(GALNT12):c.325G>C (p.Asp109His)
|
|
|
NM_024642.5(GALNT12):c.328C>G (p.Arg110Gly)
|
|
|
NM_024642.5(GALNT12):c.328C>T (p.Arg110Cys)
|
|
|
NM_024642.5(GALNT12):c.329G>T (p.Arg110Leu)
|
rs374994372
|
|
NM_024642.5(GALNT12):c.331A>G (p.Ile111Val)
|
rs1487945747
|
|
NM_024642.5(GALNT12):c.331A>T (p.Ile111Phe)
|
|
|
NM_024642.5(GALNT12):c.335C>T (p.Ser112Leu)
|
|
|
NM_024642.5(GALNT12):c.338T>C (p.Leu113Pro)
|
rs1207767530
|
|
NM_024642.5(GALNT12):c.343C>T (p.Arg115Cys)
|
|
|
NM_024642.5(GALNT12):c.344G>A (p.Arg115His)
|
|
|
NM_024642.5(GALNT12):c.344GCC[1] (p.Arg116del)
|
rs866699148
|
|
NM_024642.5(GALNT12):c.346C>T (p.Arg116Cys)
|
|
|
NM_024642.5(GALNT12):c.347G>A (p.Arg116His)
|
|
|
NM_024642.5(GALNT12):c.347G>T (p.Arg116Leu)
|
|
|
NM_024642.5(GALNT12):c.353C>T (p.Pro118Leu)
|
|
|
NM_024642.5(GALNT12):c.354C>A (p.Pro118=)
|
rs538612614
|
|
NM_024642.5(GALNT12):c.355G>A (p.Glu119Lys)
|
|
|
NM_024642.5(GALNT12):c.355G>T (p.Glu119Ter)
|
|
|
NM_024642.5(GALNT12):c.355_356delinsAT (p.Glu119Met)
|
|
|
NM_024642.5(GALNT12):c.358C>G (p.Arg120Gly)
|
|
|
NM_024642.5(GALNT12):c.359G>T (p.Arg120Leu)
|
|
|
NM_024642.5(GALNT12):c.35G>A (p.Arg12Gln)
|
|
|
NM_024642.5(GALNT12):c.35G>T (p.Arg12Leu)
|
|
|
NM_024642.5(GALNT12):c.361T>G (p.Trp121Gly)
|
|
|
NM_024642.5(GALNT12):c.363G>A (p.Trp121Ter)
|
rs1391841803
|
|
NM_024642.5(GALNT12):c.365A>G (p.Asn122Ser)
|
|
|
NM_024642.5(GALNT12):c.368C>T (p.Pro123Leu)
|
|
|
NM_024642.5(GALNT12):c.371+3G>A
|
rs1342911815
|
|
NM_024642.5(GALNT12):c.371T>C (p.Leu124Pro)
|
|
|
NM_024642.5(GALNT12):c.371dup (p.Cys125fs)
|
|
|
NM_024642.5(GALNT12):c.372-3C>T
|
|
|
NM_024642.5(GALNT12):c.373T>G (p.Cys125Gly)
|
|
|
NM_024642.5(GALNT12):c.374G>A (p.Cys125Tyr)
|
|
|
NM_024642.5(GALNT12):c.375C>G (p.Cys125Trp)
|
|
|
NM_024642.5(GALNT12):c.37G>A (p.Glu13Lys)
|
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NM_024642.5(GALNT12):c.389_390del (p.Lys129_Tyr130insTer)
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NM_024642.5(GALNT12):c.391G>A (p.Asp131Asn)
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rs1588444632
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NM_024642.5(GALNT12):c.392A>G (p.Asp131Gly)
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NM_024642.5(GALNT12):c.395A>G (p.Tyr132Cys)
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NM_024642.5(GALNT12):c.398A>G (p.Asp133Gly)
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rs1835786603
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NM_024642.5(GALNT12):c.3G>T (p.Met1Ile)
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rs267606839
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NM_024642.5(GALNT12):c.404T>A (p.Leu135Ter)
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NM_024642.5(GALNT12):c.405G>T (p.Leu135Phe)
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NM_024642.5(GALNT12):c.407C>T (p.Pro136Leu)
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NM_024642.5(GALNT12):c.40C>G (p.Leu14Val)
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rs1588436065
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NM_024642.5(GALNT12):c.410G>A (p.Arg137Lys)
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rs1554755060
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NM_024642.5(GALNT12):c.416C>G (p.Ser139Cys)
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NM_024642.5(GALNT12):c.419T>C (p.Val140Ala)
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NM_024642.5(GALNT12):c.424A>G (p.Ile142Val)
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rs1477259561
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NM_024642.5(GALNT12):c.425T>C (p.Ile142Thr)
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rs757214097
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NM_024642.5(GALNT12):c.427G>C (p.Ala143Pro)
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NM_024642.5(GALNT12):c.430T>C (p.Phe144Leu)
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NM_024642.5(GALNT12):c.435T>A (p.Tyr145Ter)
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NM_024642.5(GALNT12):c.436A>G (p.Asn146Asp)
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NM_024642.5(GALNT12):c.437A>T (p.Asn146Ile)
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NM_024642.5(GALNT12):c.438T>G (p.Asn146Lys)
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rs1588444665
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NM_024642.5(GALNT12):c.443C>G (p.Ala148Gly)
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rs1175927536
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NM_024642.5(GALNT12):c.443C>T (p.Ala148Val)
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NM_024642.5(GALNT12):c.446G>T (p.Trp149Leu)
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NM_024642.5(GALNT12):c.448T>A (p.Ser150Thr)
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NM_024642.5(GALNT12):c.451A>C (p.Thr151Pro)
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NM_024642.5(GALNT12):c.451A>G (p.Thr151Ala)
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NM_024642.5(GALNT12):c.454C>G (p.Leu152Val)
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rs2118355270
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NM_024642.5(GALNT12):c.454C>T (p.Leu152Phe)
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NM_024642.5(GALNT12):c.457C>T (p.Leu153Phe)
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NM_024642.5(GALNT12):c.458T>G (p.Leu153Arg)
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NM_024642.5(GALNT12):c.461G>A (p.Arg154Gln)
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rs756339026
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NM_024642.5(GALNT12):c.461G>T (p.Arg154Leu)
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NM_024642.5(GALNT12):c.462G>T (p.Arg154=)
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NM_024642.5(GALNT12):c.466G>A (p.Val156Ile)
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rs1835788177
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NM_024642.5(GALNT12):c.475G>A (p.Val159Ile)
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NM_024642.5(GALNT12):c.481G>T (p.Glu161Ter)
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NM_024642.5(GALNT12):c.482A>C (p.Glu161Ala)
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NM_024642.5(GALNT12):c.484A>G (p.Thr162Ala)
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NM_024642.5(GALNT12):c.484A>T (p.Thr162Ser)
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NM_024642.5(GALNT12):c.485C>G (p.Thr162Arg)
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NM_024642.5(GALNT12):c.485C>T (p.Thr162Ile)
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NM_024642.5(GALNT12):c.488C>T (p.Ser163Phe)
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rs771521076
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NM_024642.5(GALNT12):c.491C>A (p.Pro164Gln)
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rs775040546
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NM_024642.5(GALNT12):c.499C>G (p.Leu167Val)
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rs2118355970
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NM_024642.5(GALNT12):c.4_5insTG (p.Trp2fs)
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NM_024642.5(GALNT12):c.502C>G (p.Leu168Val)
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rs1835789469
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NM_024642.5(GALNT12):c.506AAG[1] (p.Glu170del)
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rs747224942
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NM_024642.5(GALNT12):c.510A>T (p.Glu170Asp)
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NM_024642.5(GALNT12):c.520G>A (p.Val174Ile)
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NM_024642.5(GALNT12):c.527A>T (p.Asp176Val)
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NM_024642.5(GALNT12):c.530A>C (p.Tyr177Ser)
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rs867136237
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NM_024642.5(GALNT12):c.530A>G (p.Tyr177Cys)
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rs867136237
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NM_024642.5(GALNT12):c.532A>G (p.Ser178Gly)
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rs1835790432
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NM_024642.5(GALNT12):c.536A>G (p.Asp179Gly)
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NM_024642.5(GALNT12):c.538A>G (p.Arg180Gly)
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rs1835790665
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NM_024642.5(GALNT12):c.541+1del
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rs1588444776
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NM_024642.5(GALNT12):c.541+3G>T
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NM_024642.5(GALNT12):c.541G>C (p.Glu181Gln)
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NM_024642.5(GALNT12):c.542-2A>G
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NM_024642.5(GALNT12):c.542A>G (p.Glu181Gly)
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rs1588446473
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NM_024642.5(GALNT12):c.544C>T (p.His182Tyr)
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rs1835864292
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NM_024642.5(GALNT12):c.546C>A (p.His182Gln)
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NM_024642.5(GALNT12):c.548T>C (p.Leu183Pro)
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NM_024642.5(GALNT12):c.551A>T (p.Lys184Met)
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NM_024642.5(GALNT12):c.556C>G (p.Arg186Gly)
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NM_024642.5(GALNT12):c.556C>T (p.Arg186Cys)
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rs750758049
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NM_024642.5(GALNT12):c.557G>A (p.Arg186His)
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NM_024642.5(GALNT12):c.557G>C (p.Arg186Pro)
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NM_024642.5(GALNT12):c.563C>T (p.Ala188Val)
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rs2118376150
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NM_024642.5(GALNT12):c.565A>C (p.Asn189His)
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NM_024642.5(GALNT12):c.565A>G (p.Asn189Asp)
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NM_024642.5(GALNT12):c.566A>T (p.Asn189Ile)
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NM_024642.5(GALNT12):c.567T>G (p.Asn189Lys)
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NM_024642.5(GALNT12):c.571C>G (p.Leu191Val)
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NM_024642.5(GALNT12):c.574T>G (p.Ser192Ala)
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NM_024642.5(GALNT12):c.575C>G (p.Ser192Trp)
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NM_024642.5(GALNT12):c.575C>T (p.Ser192Leu)
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NM_024642.5(GALNT12):c.578G>C (p.Gly193Ala)
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rs1835865743
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NM_024642.5(GALNT12):c.580C>G (p.Leu194Val)
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rs1588446515
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NM_024642.5(GALNT12):c.583C>T (p.Pro195Ser)
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rs2118376466
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NM_024642.5(GALNT12):c.584C>G (p.Pro195Arg)
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NM_024642.5(GALNT12):c.587A>G (p.Lys196Arg)
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NM_024642.5(GALNT12):c.593G>T (p.Arg198Leu)
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NM_024642.5(GALNT12):c.594C>T (p.Arg198=)
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NM_024642.5(GALNT12):c.599T>G (p.Ile200Ser)
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NM_024642.5(GALNT12):c.5G>A (p.Trp2Ter)
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rs898798901
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NM_024642.5(GALNT12):c.5G>C (p.Trp2Ser)
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rs898798901
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NM_024642.5(GALNT12):c.600C>G (p.Ile200Met)
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NM_024642.5(GALNT12):c.601C>G (p.Arg201Gly)
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rs372616005
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NM_024642.5(GALNT12):c.601C>T (p.Arg201Cys)
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NM_024642.5(GALNT12):c.602G>A (p.Arg201His)
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rs776800914
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NM_024642.5(GALNT12):c.604G>A (p.Ala202Thr)
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rs762155395
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NM_024642.5(GALNT12):c.604G>C (p.Ala202Pro)
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NM_024642.5(GALNT12):c.604G>T (p.Ala202Ser)
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NM_024642.5(GALNT12):c.608A>T (p.Asn203Ile)
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rs375844934
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NM_024642.5(GALNT12):c.610A>G (p.Lys204Glu)
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NM_024642.5(GALNT12):c.610_611del (p.Lys204fs)
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NM_024642.5(GALNT12):c.611A>G (p.Lys204Arg)
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rs1835868057
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NM_024642.5(GALNT12):c.613A>T (p.Arg205Ter)
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NM_024642.5(GALNT12):c.614G>A (p.Arg205Lys)
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NM_024642.5(GALNT12):c.615A>C (p.Arg205Ser)
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rs1588446598
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NM_024642.5(GALNT12):c.617A>G (p.Glu206Gly)
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NM_024642.5(GALNT12):c.617_618del (p.Glu206fs)
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NM_024642.5(GALNT12):c.618G>T (p.Glu206Asp)
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rs752104405
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NM_024642.5(GALNT12):c.619G>A (p.Gly207Ser)
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NM_024642.5(GALNT12):c.619G>T (p.Gly207Cys)
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NM_024642.5(GALNT12):c.623T>A (p.Leu208Gln)
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NM_024642.5(GALNT12):c.625G>A (p.Val209Met)
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NM_024642.5(GALNT12):c.628C>G (p.Arg210Gly)
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NM_024642.5(GALNT12):c.628C>T (p.Arg210Ter)
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NM_024642.5(GALNT12):c.629G>A (p.Arg210Gln)
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NM_024642.5(GALNT12):c.629G>C (p.Arg210Pro)
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rs780705882
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NM_024642.5(GALNT12):c.631G>T (p.Ala211Ser)
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NM_024642.5(GALNT12):c.632C>A (p.Ala211Asp)
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NM_024642.5(GALNT12):c.632C>T (p.Ala211Val)
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rs1308828909
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NM_024642.5(GALNT12):c.634del (p.Arg212fs)
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NM_024642.5(GALNT12):c.638T>G (p.Leu213Arg)
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NM_024642.5(GALNT12):c.640C>G (p.Leu214Val)
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NM_024642.5(GALNT12):c.641T>C (p.Leu214Pro)
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NM_024642.5(GALNT12):c.643G>C (p.Gly215Arg)
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NM_024642.5(GALNT12):c.646G>A (p.Ala216Thr)
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rs770798296
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NM_024642.5(GALNT12):c.646G>T (p.Ala216Ser)
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NM_024642.5(GALNT12):c.647C>T (p.Ala216Val)
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NM_024642.5(GALNT12):c.655G>A (p.Ala219Thr)
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NM_024642.5(GALNT12):c.655_656delinsAA (p.Ala219Lys)
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NM_024642.5(GALNT12):c.656C>A (p.Ala219Glu)
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NM_024642.5(GALNT12):c.656C>T (p.Ala219Val)
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NM_024642.5(GALNT12):c.659G>C (p.Arg220Thr)
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NM_024642.5(GALNT12):c.662G>A (p.Gly221Asp)
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NM_024642.5(GALNT12):c.662G>C (p.Gly221Ala)
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NM_024642.5(GALNT12):c.664G>T (p.Asp222Tyr)
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NM_024642.5(GALNT12):c.665A>G (p.Asp222Gly)
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NM_024642.5(GALNT12):c.670C>T (p.Leu224=)
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NM_024642.5(GALNT12):c.673A>T (p.Thr225Ser)
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rs531023279
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NM_024642.5(GALNT12):c.680T>A (p.Leu227Gln)
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rs763057175
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NM_024642.5(GALNT12):c.682G>C (p.Asp228His)
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NM_024642.5(GALNT12):c.683A>C (p.Asp228Ala)
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NM_024642.5(GALNT12):c.683A>T (p.Asp228Val)
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NM_024642.5(GALNT12):c.685T>C (p.Cys229Arg)
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rs1289967555
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NM_024642.5(GALNT12):c.689dup (p.His230fs)
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NM_024642.5(GALNT12):c.691T>A (p.Cys231Ser)
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NM_024642.5(GALNT12):c.693_694del (p.Cys231_Glu232delinsTer)
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NM_024642.5(GALNT12):c.6G>T (p.Trp2Cys)
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NM_024642.5(GALNT12):c.705A>C (p.Glu235Asp)
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NM_024642.5(GALNT12):c.706G>C (p.Gly236Arg)
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rs2118378502
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NM_024642.5(GALNT12):c.707G>T (p.Gly236Val)
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NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)
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NM_024642.5(GALNT12):c.713T>C (p.Leu238Pro)
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rs755708201
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NM_024642.5(GALNT12):c.713T>G (p.Leu238Arg)
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NM_024642.5(GALNT12):c.728A>C (p.Gln243Pro)
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NM_024642.5(GALNT12):c.731+1del
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NM_024642.5(GALNT12):c.731+3A>G
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NM_024642.5(GALNT12):c.731+5G>A
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NM_024642.5(GALNT12):c.731G>A (p.Arg244Lys)
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NM_024642.5(GALNT12):c.732-2A>G
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rs1588449802
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NM_024642.5(GALNT12):c.732-39T>A
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NM_024642.5(GALNT12):c.732-4_771dup
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rs745921546
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NM_024642.5(GALNT12):c.732-5T>G
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NM_024642.5(GALNT12):c.732G>A (p.Arg244=)
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NM_024642.5(GALNT12):c.734T>C (p.Ile245Thr)
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NM_024642.5(GALNT12):c.737A>G (p.His246Arg)
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NM_024642.5(GALNT12):c.742G>C (p.Glu248Gln)
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NM_024642.5(GALNT12):c.744G>C (p.Glu248Asp)
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rs1588449816
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NM_024642.5(GALNT12):c.745G>A (p.Glu249Lys)
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NM_024642.5(GALNT12):c.748T>C (p.Ser250Pro)
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NM_024642.5(GALNT12):c.754G>A (p.Val252Met)
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NM_024642.5(GALNT12):c.760T>C (p.Cys254Arg)
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rs750084638
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NM_024642.5(GALNT12):c.766del (p.Pro255_Val256insTer)
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NM_024642.5(GALNT12):c.767T>G (p.Val256Gly)
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NM_024642.5(GALNT12):c.770T>C (p.Ile257Thr)
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NM_024642.5(GALNT12):c.775G>A (p.Val259Met)
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NM_024642.5(GALNT12):c.776T>G (p.Val259Gly)
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rs147356342
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NM_024642.5(GALNT12):c.778A>G (p.Ile260Val)
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NM_024642.5(GALNT12):c.778A>T (p.Ile260Phe)
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NM_024642.5(GALNT12):c.780C>G (p.Ile260Met)
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rs777942439
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NM_024642.5(GALNT12):c.781G>C (p.Asp261His)
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rs41306504
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NM_024642.5(GALNT12):c.783C>G (p.Asp261Glu)
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NM_024642.5(GALNT12):c.785G>A (p.Trp262Ter)
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NM_024642.5(GALNT12):c.787A>G (p.Asn263Asp)
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rs2118414001
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NM_024642.5(GALNT12):c.790A>C (p.Thr264Pro)
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NM_024642.5(GALNT12):c.791C>G (p.Thr264Ser)
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NM_024642.5(GALNT12):c.795C>A (p.Phe265Leu)
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rs774616588
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NM_024642.5(GALNT12):c.797A>G (p.Glu266Gly)
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rs1454775771
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NM_024642.5(GALNT12):c.7G>C (p.Gly3Arg)
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NM_024642.5(GALNT12):c.809A>T (p.Asn270Ile)
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rs1416100156
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NM_024642.5(GALNT12):c.811T>C (p.Ser271Pro)
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NM_024642.5(GALNT12):c.815G>C (p.Gly272Ala)
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NM_024642.5(GALNT12):c.821C>A (p.Pro274His)
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NM_024642.5(GALNT12):c.828C>G (p.Ile276Met)
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NM_024642.5(GALNT12):c.830G>A (p.Gly277Asp)
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NM_024642.5(GALNT12):c.833G>C (p.Gly278Ala)
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NM_024642.5(GALNT12):c.833G>T (p.Gly278Val)
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NM_024642.5(GALNT12):c.833del (p.Gly278fs)
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NM_024642.5(GALNT12):c.835T>G (p.Phe279Val)
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NM_024642.5(GALNT12):c.837C>A (p.Phe279Leu)
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rs754951224
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NM_024642.5(GALNT12):c.838G>A (p.Asp280Asn)
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rs748104709
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NM_024642.5(GALNT12):c.838G>T (p.Asp280Tyr)
|
rs748104709
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NM_024642.5(GALNT12):c.839A>G (p.Asp280Gly)
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NM_024642.5(GALNT12):c.842G>A (p.Trp281Ter)
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NM_024642.5(GALNT12):c.844A>T (p.Arg282Trp)
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NM_024642.5(GALNT12):c.851T>C (p.Val284Ala)
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rs1588449987
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NM_024642.5(GALNT12):c.866C>G (p.Thr289Arg)
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rs1588450015
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NM_024642.5(GALNT12):c.866C>T (p.Thr289Ile)
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NM_024642.5(GALNT12):c.869T>C (p.Val290Ala)
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NM_024642.5(GALNT12):c.874G>C (p.Glu292Gln)
|
rs1588450031
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NM_024642.5(GALNT12):c.874_876delinsAA (p.Glu292fs)
|
rs1060502969
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NM_024642.5(GALNT12):c.876_917+174del
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NM_024642.5(GALNT12):c.884G>T (p.Arg295Met)
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NM_024642.5(GALNT12):c.885G>T (p.Arg295Ser)
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NM_024642.5(GALNT12):c.886A>G (p.Ile296Val)
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rs1588450054
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NM_024642.5(GALNT12):c.886A>T (p.Ile296Leu)
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NM_024642.5(GALNT12):c.887T>C (p.Ile296Thr)
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NM_024642.5(GALNT12):c.890G>C (p.Arg297Pro)
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NM_024642.5(GALNT12):c.893T>C (p.Met298Thr)
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NM_024642.5(GALNT12):c.894G>A (p.Met298Ile)
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rs1429382002
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NM_024642.5(GALNT12):c.897del (p.Gln299fs)
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NM_024642.5(GALNT12):c.8G>A (p.Gly3Glu)
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NM_024642.5(GALNT12):c.901C>G (p.Pro301Ala)
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NM_024642.5(GALNT12):c.911T>C (p.Val304Ala)
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NM_024642.5(GALNT12):c.913A>G (p.Ile305Val)
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rs1588450129
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NM_024642.5(GALNT12):c.914T>C (p.Ile305Thr)
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rs1836010243
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NM_024642.5(GALNT12):c.917+5G>A
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NM_024642.5(GALNT12):c.917+6G>A
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rs2118416565
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NM_024642.5(GALNT12):c.919T>C (p.Ser307Pro)
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rs1313362587
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NM_024642.5(GALNT12):c.920C>A (p.Ser307Tyr)
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NM_024642.5(GALNT12):c.920C>T (p.Ser307Phe)
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NM_024642.5(GALNT12):c.922C>A (p.Pro308Thr)
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NM_024642.5(GALNT12):c.926C>A (p.Thr309Lys)
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NM_024642.5(GALNT12):c.926C>T (p.Thr309Ile)
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NM_024642.5(GALNT12):c.928A>G (p.Met310Val)
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NM_024642.5(GALNT12):c.929T>A (p.Met310Lys)
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NM_024642.5(GALNT12):c.930G>A (p.Met310Ile)
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NM_024642.5(GALNT12):c.934G>T (p.Gly312Cys)
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NM_024642.5(GALNT12):c.938G>A (p.Gly313Glu)
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NM_024642.5(GALNT12):c.946G>A (p.Ala316Thr)
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NM_024642.5(GALNT12):c.946G>C (p.Ala316Pro)
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NM_024642.5(GALNT12):c.947C>G (p.Ala316Gly)
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NM_024642.5(GALNT12):c.947C>T (p.Ala316Val)
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NM_024642.5(GALNT12):c.949G>A (p.Val317Met)
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NM_024642.5(GALNT12):c.949G>C (p.Val317Leu)
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NM_024642.5(GALNT12):c.953G>A (p.Ser318Asn)
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rs1836111273
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NM_024642.5(GALNT12):c.959A>C (p.Lys320Thr)
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NM_024642.5(GALNT12):c.965T>A (p.Phe322Tyr)
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NM_024642.5(GALNT12):c.967G>A (p.Glu323Lys)
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rs1836111722
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NM_024642.5(GALNT12):c.969A>C (p.Glu323Asp)
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NM_024642.5(GALNT12):c.977G>C (p.Gly326Ala)
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NM_024642.5(GALNT12):c.980C>G (p.Ser327Cys)
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rs761786369
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NM_024642.5(GALNT12):c.983A>G (p.Tyr328Cys)
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rs1017576138
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NM_024642.5(GALNT12):c.985G>A (p.Asp329Asn)
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rs267602051
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NM_024642.5(GALNT12):c.988A>G (p.Thr330Ala)
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NM_024642.5(GALNT12):c.995T>C (p.Met332Thr)
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NM_024642.5(GALNT12):c.999del (p.Val334fs)
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NM_024642.5(GALNT12):c.9dup (p.Arg4fs)
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