ClinVar Miner

List of variants in gene GALNT12 reported as uncertain significance by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 861
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HGVS dbSNP gnomAD frequency
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp) rs149726976 0.00046
NM_024642.5(GALNT12):c.20G>T (p.Arg7Leu) rs568625965 0.00040
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.825G>T (p.Gln275His) rs944134910 0.00023
NM_024642.5(GALNT12):c.212C>T (p.Pro71Leu) rs781089454 0.00019
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.715G>C (p.Glu239Gln) rs777144221 0.00008
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.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.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.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.372-5T>C rs774029336 0.00002
NM_024642.5(GALNT12):c.442G>T (p.Ala148Ser) rs751656135 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.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.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.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.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.178C>G (p.Arg60Gly) rs992673909 0.00001
NM_024642.5(GALNT12):c.188C>A (p.Pro63Gln) rs1481280788 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.627_637del (p.Arg210fs) rs781391307 0.00001
NM_024642.5(GALNT12):c.634C>T (p.Arg212Trp) rs371040665 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
NM_024642.5(GALNT12):c.-1C>T
NM_024642.5(GALNT12):c.-2G>A
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.1013A>G (p.Glu338Gly)
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.1030T>C (p.Phe344Leu)
NM_024642.5(GALNT12):c.1033A>G (p.Arg345Gly)
NM_024642.5(GALNT12):c.1035+1G>A
NM_024642.5(GALNT12):c.1035G>A (p.Arg345=)
NM_024642.5(GALNT12):c.1035G>T (p.Arg345Ser)
NM_024642.5(GALNT12):c.1036-3C>T
NM_024642.5(GALNT12):c.1041G>A (p.Trp347Ter)
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.1063A>G (p.Thr355Ala)
NM_024642.5(GALNT12):c.1066C>G (p.His356Asp)
NM_024642.5(GALNT12):c.1066C>T (p.His356Tyr)
NM_024642.5(GALNT12):c.1069C>G (p.Pro357Ala)
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
NM_024642.5(GALNT12):c.1078C>T (p.His360Tyr)
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.1093T>C (p.Phe365Leu)
NM_024642.5(GALNT12):c.1094T>C (p.Phe365Ser)
NM_024642.5(GALNT12):c.1097C>T (p.Pro366Leu)
NM_024642.5(GALNT12):c.10C>T (p.Arg4Cys)
NM_024642.5(GALNT12):c.1100A>C (p.Lys367Thr)
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
NM_024642.5(GALNT12):c.1119C>T (p.Arg373=) rs1836170608
NM_024642.5(GALNT12):c.1123A>G (p.Lys375Glu)
NM_024642.5(GALNT12):c.1126G>A (p.Ala376Thr)
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.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.1148C>T (p.Ala383Val)
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.1156G>A (p.Val386Ile)
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.1166A>G (p.Asp389Gly)
NM_024642.5(GALNT12):c.116C>T (p.Ala39Val)
NM_024642.5(GALNT12):c.1177G>A (p.Glu393Lys)
NM_024642.5(GALNT12):c.1180C>T (p.Leu394Phe)
NM_024642.5(GALNT12):c.1181T>C (p.Leu394Pro)
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.1189C>T (p.His397Tyr)
NM_024642.5(GALNT12):c.118C>T (p.Gln40Ter)
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>A (p.Asn399Lys)
NM_024642.5(GALNT12):c.1197C>G (p.Asn399Lys)
NM_024642.5(GALNT12):c.119A>C (p.Gln40Pro)
NM_024642.5(GALNT12):c.1204G>A (p.Ala402Thr)
NM_024642.5(GALNT12):c.1205C>G (p.Ala402Gly)
NM_024642.5(GALNT12):c.1211T>G (p.Leu404Trp)
NM_024642.5(GALNT12):c.1212+1G>T
NM_024642.5(GALNT12):c.1213G>A (p.Glu405Lys)
NM_024642.5(GALNT12):c.1225G>C (p.Asp409His)
NM_024642.5(GALNT12):c.1225del (p.Asp409fs)
NM_024642.5(GALNT12):c.1229T>C (p.Val410Ala)
NM_024642.5(GALNT12):c.122G>A (p.Arg41His)
NM_024642.5(GALNT12):c.122G>T (p.Arg41Leu)
NM_024642.5(GALNT12):c.1234G>A (p.Glu412Lys)
NM_024642.5(GALNT12):c.1237A>G (p.Arg413Gly)
NM_024642.5(GALNT12):c.1238G>A (p.Arg413Lys)
NM_024642.5(GALNT12):c.1240A>C (p.Lys414Gln)
NM_024642.5(GALNT12):c.1246C>T (p.Leu416Phe)
NM_024642.5(GALNT12):c.124G>A (p.Gly42Arg)
NM_024642.5(GALNT12):c.1250G>A (p.Arg417Gln)
NM_024642.5(GALNT12):c.1250G>T (p.Arg417Leu)
NM_024642.5(GALNT12):c.1252G>A (p.Asp418Asn)
NM_024642.5(GALNT12):c.1254C>A (p.Asp418Glu)
NM_024642.5(GALNT12):c.1259T>C (p.Leu420Pro)
NM_024642.5(GALNT12):c.125G>C (p.Gly42Ala)
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>A (p.Asp424Glu)
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.1281G>A (p.Trp427Ter)
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.1296_1297del (p.Tyr433fs)
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.1301C>A (p.Pro434Gln)
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>A (p.Gly44Arg)
NM_024642.5(GALNT12):c.1311T>A (p.His437Gln)
NM_024642.5(GALNT12):c.1315C>T (p.Pro439Ser)
NM_024642.5(GALNT12):c.131G>T (p.Gly44Val)
NM_024642.5(GALNT12):c.1325G>A (p.Arg442Lys)
NM_024642.5(GALNT12):c.1325G>T (p.Arg442Met)
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.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.1340G>C (p.Gly447Ala)
NM_024642.5(GALNT12):c.1341G>T (p.Gly447=)
NM_024642.5(GALNT12):c.1345-4T>G
NM_024642.5(GALNT12):c.134C>A (p.Ala45Asp)
NM_024642.5(GALNT12):c.134C>G (p.Ala45Gly) rs1588436153
NM_024642.5(GALNT12):c.134C>T (p.Ala45Val)
NM_024642.5(GALNT12):c.134_136delinsGCA (p.Ala45_Gly46delinsGlyArg)
NM_024642.5(GALNT12):c.1352A>T (p.Asn451Ile)
NM_024642.5(GALNT12):c.1358G>A (p.Gly453Glu)
NM_024642.5(GALNT12):c.1360C>A (p.Leu454Ile)
NM_024642.5(GALNT12):c.136G>T (p.Gly46Trp)
NM_024642.5(GALNT12):c.136_139delinsAGAA (p.Gly46_Ala47delinsArgThr)
NM_024642.5(GALNT12):c.1370A>G (p.Tyr457Cys)
NM_024642.5(GALNT12):c.1375T>C (p.Phe459Leu)
NM_024642.5(GALNT12):c.137G>A (p.Gly46Glu)
NM_024642.5(GALNT12):c.1387C>A (p.Pro463Thr)
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.1393G>C (p.Asp465His)
NM_024642.5(GALNT12):c.1393G>T (p.Asp465Tyr)
NM_024642.5(GALNT12):c.139G>T (p.Ala47Ser)
NM_024642.5(GALNT12):c.139_152dup (p.Pro52fs)
NM_024642.5(GALNT12):c.1402C>A (p.Gln468Lys)
NM_024642.5(GALNT12):c.1403A>G (p.Gln468Arg)
NM_024642.5(GALNT12):c.1409T>A (p.Val470Glu)
NM_024642.5(GALNT12):c.1409T>C (p.Val470Ala)
NM_024642.5(GALNT12):c.140C>A (p.Ala47Asp) rs1304764723
NM_024642.5(GALNT12):c.140_141insCAGGGC (p.Ala47_Ala48insArgAla)
NM_024642.5(GALNT12):c.140_141insCGGCGC (p.42_43GA[4]) rs1238412781
NM_024642.5(GALNT12):c.1412G>A (p.Gly471Glu)
NM_024642.5(GALNT12):c.1414C>T (p.His472Tyr)
NM_024642.5(GALNT12):c.1414del (p.His472fs)
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.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.1423A>G (p.Ile475Val)
NM_024642.5(GALNT12):c.1424T>A (p.Ile475Asn)
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.1451A>G (p.Gln484Arg)
NM_024642.5(GALNT12):c.1454A>G (p.Asn485Ser)
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.1464C>G (p.Phe488Leu)
NM_024642.5(GALNT12):c.1465G>C (p.Glu489Gln)
NM_024642.5(GALNT12):c.1469A>G (p.Tyr490Cys)
NM_024642.5(GALNT12):c.146A>C (p.Glu49Ala)
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.148C>T (p.Pro50Ser)
NM_024642.5(GALNT12):c.1492T>C (p.Tyr498His) rs1588459528
NM_024642.5(GALNT12):c.1493A>C (p.Tyr498Ser)
NM_024642.5(GALNT12):c.1494T>A (p.Tyr498Ter)
NM_024642.5(GALNT12):c.1498A>G (p.Thr500Ala)
NM_024642.5(GALNT12):c.149C>G (p.Pro50Arg)
NM_024642.5(GALNT12):c.1506_1507del (p.Gln502fs)
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.1517G>A (p.Cys506Tyr)
NM_024642.5(GALNT12):c.1519A>C (p.Ile507Leu)
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>A (p.Ala511Glu)
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.1538T>G (p.Met513Arg)
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.1546del (p.Ile517fs)
NM_024642.5(GALNT12):c.1552A>G (p.Met518Val)
NM_024642.5(GALNT12):c.1553T>G (p.Met518Arg)
NM_024642.5(GALNT12):c.1555C>A (p.His519Asn)
NM_024642.5(GALNT12):c.1559T>A (p.Leu520His)
NM_024642.5(GALNT12):c.155C>A (p.Pro52His)
NM_024642.5(GALNT12):c.1564G>T (p.Glu522Ter) rs200303625
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.1584T>G (p.Asn528Lys)
NM_024642.5(GALNT12):c.1587G>C (p.Gln529His)
NM_024642.5(GALNT12):c.158C>A (p.Pro53Gln) rs1209537944
NM_024642.5(GALNT12):c.1591T>G (p.Phe531Val)
NM_024642.5(GALNT12):c.1594A>T (p.Ile532Phe)
NM_024642.5(GALNT12):c.1599G>T (p.Leu533Phe)
NM_024642.5(GALNT12):c.1606-2A>G
NM_024642.5(GALNT12):c.1606-5T>G
NM_024642.5(GALNT12):c.1606G>A (p.Asp536Asn)
NM_024642.5(GALNT12):c.1607A>G (p.Asp536Gly)
NM_024642.5(GALNT12):c.1612T>A (p.Ser538Thr)
NM_024642.5(GALNT12):c.1612T>C (p.Ser538Pro)
NM_024642.5(GALNT12):c.1613C>G (p.Ser538Cys)
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.1631C>G (p.Ser544Cys)
NM_024642.5(GALNT12):c.1631C>T (p.Ser544Phe)
NM_024642.5(GALNT12):c.163A>C (p.Thr55Pro)
NM_024642.5(GALNT12):c.163_171dup (p.Thr55_Arg57dup) rs1588436188
NM_024642.5(GALNT12):c.1645C>T (p.Gln549Ter)
NM_024642.5(GALNT12):c.1646A>G (p.Gln549Arg)
NM_024642.5(GALNT12):c.1651G>T (p.Ala551Ser)
NM_024642.5(GALNT12):c.1657A>G (p.Lys553Glu)
NM_024642.5(GALNT12):c.1660G>A (p.Glu554Lys)
NM_024642.5(GALNT12):c.1664C>A (p.Ser555Ter) rs761631783
NM_024642.5(GALNT12):c.1667G>A (p.Ser556Asn)
NM_024642.5(GALNT12):c.1667G>C (p.Ser556Thr)
NM_024642.5(GALNT12):c.1669G>A (p.Asp557Asn)
NM_024642.5(GALNT12):c.166C>G (p.Pro56Ala)
NM_024642.5(GALNT12):c.166C>T (p.Pro56Ser)
NM_024642.5(GALNT12):c.166_174dup (p.Pro56_Pro58dup) rs1379414621
NM_024642.5(GALNT12):c.1671C>G (p.Asp557Glu)
NM_024642.5(GALNT12):c.1676T>A (p.Phe559Tyr)
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.1694A>G (p.Asp565Gly)
NM_024642.5(GALNT12):c.1697G>A (p.Cys566Tyr)
NM_024642.5(GALNT12):c.169C>G (p.Arg57Gly)
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.170G>A (p.Arg57His)
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.1726T>C (p.Phe576Leu)
NM_024642.5(GALNT12):c.1726T>G (p.Phe576Val)
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.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.176G>T (p.Gly59Val)
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.184G>C (p.Glu62Gln)
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.194T>G (p.Met65Arg)
NM_024642.5(GALNT12):c.197C>G (p.Pro66Arg)
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.200G>A (p.Arg67Gln)
NM_024642.5(GALNT12):c.200G>T (p.Arg67Leu)
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>A (p.Pro69Gln)
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>A (p.Arg7Gln)
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.212C>G (p.Pro71Arg)
NM_024642.5(GALNT12):c.214G>A (p.Ala72Thr)
NM_024642.5(GALNT12):c.215C>G (p.Ala72Gly)
NM_024642.5(GALNT12):c.215C>T (p.Ala72Val)
NM_024642.5(GALNT12):c.220G>A (p.Ala74Thr)
NM_024642.5(GALNT12):c.221C>T (p.Ala74Val)
NM_024642.5(GALNT12):c.224T>C (p.Leu75Pro)
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.233G>T (p.Arg78Leu)
NM_024642.5(GALNT12):c.235G>A (p.Gly79Ser)
NM_024642.5(GALNT12):c.235G>C (p.Gly79Arg)
NM_024642.5(GALNT12):c.235G>T (p.Gly79Cys) rs1588436285
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.245T>A (p.Val82Glu)
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.255G>T (p.Gln85His)
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>A (p.Leu86Gln)
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>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.272T>C (p.Leu91Pro)
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.28T>C (p.Cys10Arg)
NM_024642.5(GALNT12):c.291C>G (p.Ser97Arg)
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.298C>A (p.Leu100Met)
NM_024642.5(GALNT12):c.299T>A (p.Leu100Gln)
NM_024642.5(GALNT12):c.29G>A (p.Cys10Tyr)
NM_024642.5(GALNT12):c.2T>C (p.Met1Thr) rs1005081558
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.305A>G (p.Gln102Arg)
NM_024642.5(GALNT12):c.310A>C (p.Asn104His)
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.317A>C (p.Tyr106Ser)
NM_024642.5(GALNT12):c.319C>G (p.Leu107Val)
NM_024642.5(GALNT12):c.319C>T (p.Leu107Phe)
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>A (p.Asp109Asn)
NM_024642.5(GALNT12):c.325G>C (p.Asp109His)
NM_024642.5(GALNT12):c.328C>A (p.Arg110Ser)
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>C (p.Ile111Leu)
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.340C>T (p.His114Tyr)
NM_024642.5(GALNT12):c.343C>T (p.Arg115Cys)
NM_024642.5(GALNT12):c.344G>A (p.Arg115His)
NM_024642.5(GALNT12):c.344G>T (p.Arg115Leu)
NM_024642.5(GALNT12):c.344GCC[1] (p.Arg116del) rs866699148
NM_024642.5(GALNT12):c.346C>A (p.Arg116Ser)
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.34C>T (p.Arg12Trp)
NM_024642.5(GALNT12):c.353C>T (p.Pro118Leu)
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.365A>G (p.Asn122Ser)
NM_024642.5(GALNT12):c.368C>T (p.Pro123Leu)
NM_024642.5(GALNT12):c.371T>C (p.Leu124Pro)
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)
NM_024642.5(GALNT12):c.386A>T (p.Lys129Ile)
NM_024642.5(GALNT12):c.389_390del (p.Lys129_Tyr130insTer)
NM_024642.5(GALNT12):c.391G>A (p.Asp131Asn) rs1588444632
NM_024642.5(GALNT12):c.392A>G (p.Asp131Gly)
NM_024642.5(GALNT12):c.395A>G (p.Tyr132Cys)
NM_024642.5(GALNT12):c.398A>G (p.Asp133Gly) rs1835786603
NM_024642.5(GALNT12):c.3G>T (p.Met1Ile) rs267606839
NM_024642.5(GALNT12):c.404T>A (p.Leu135Ter)
NM_024642.5(GALNT12):c.405G>T (p.Leu135Phe)
NM_024642.5(GALNT12):c.407C>T (p.Pro136Leu)
NM_024642.5(GALNT12):c.40C>G (p.Leu14Val) rs1588436065
NM_024642.5(GALNT12):c.410G>A (p.Arg137Lys) rs1554755060
NM_024642.5(GALNT12):c.413C>G (p.Thr138Arg)
NM_024642.5(GALNT12):c.41T>A (p.Leu14Gln)
NM_024642.5(GALNT12):c.424A>G (p.Ile142Val) rs1477259561
NM_024642.5(GALNT12):c.425T>C (p.Ile142Thr) rs757214097
NM_024642.5(GALNT12):c.427G>C (p.Ala143Pro)
NM_024642.5(GALNT12):c.430T>C (p.Phe144Leu)
NM_024642.5(GALNT12):c.433T>C (p.Tyr145His)
NM_024642.5(GALNT12):c.435T>A (p.Tyr145Ter)
NM_024642.5(GALNT12):c.436A>G (p.Asn146Asp)
NM_024642.5(GALNT12):c.437A>T (p.Asn146Ile)
NM_024642.5(GALNT12):c.438T>G (p.Asn146Lys) rs1588444665
NM_024642.5(GALNT12):c.443C>A (p.Ala148Asp)
NM_024642.5(GALNT12):c.443C>G (p.Ala148Gly) rs1175927536
NM_024642.5(GALNT12):c.443C>T (p.Ala148Val)
NM_024642.5(GALNT12):c.446G>T (p.Trp149Leu)
NM_024642.5(GALNT12):c.448T>A (p.Ser150Thr)
NM_024642.5(GALNT12):c.449C>T (p.Ser150Leu)
NM_024642.5(GALNT12):c.451A>C (p.Thr151Pro)
NM_024642.5(GALNT12):c.451A>G (p.Thr151Ala)
NM_024642.5(GALNT12):c.452C>T (p.Thr151Ile)
NM_024642.5(GALNT12):c.454C>G (p.Leu152Val) rs2118355270
NM_024642.5(GALNT12):c.454C>T (p.Leu152Phe)
NM_024642.5(GALNT12):c.458T>G (p.Leu153Arg)
NM_024642.5(GALNT12):c.461G>A (p.Arg154Gln) rs756339026
NM_024642.5(GALNT12):c.461G>T (p.Arg154Leu)
NM_024642.5(GALNT12):c.462G>T (p.Arg154=)
NM_024642.5(GALNT12):c.466G>A (p.Val156Ile) rs1835788177
NM_024642.5(GALNT12):c.469T>C (p.Tyr157His)
NM_024642.5(GALNT12):c.475G>A (p.Val159Ile)
NM_024642.5(GALNT12):c.481G>T (p.Glu161Ter)
NM_024642.5(GALNT12):c.482A>C (p.Glu161Ala)
NM_024642.5(GALNT12):c.483G>C (p.Glu161Asp)
NM_024642.5(GALNT12):c.484A>G (p.Thr162Ala)
NM_024642.5(GALNT12):c.484A>T (p.Thr162Ser)
NM_024642.5(GALNT12):c.485C>G (p.Thr162Arg)
NM_024642.5(GALNT12):c.485C>T (p.Thr162Ile)
NM_024642.5(GALNT12):c.490C>G (p.Pro164Ala)
NM_024642.5(GALNT12):c.4_5insTG (p.Trp2fs)
NM_024642.5(GALNT12):c.506AAG[1] (p.Glu170del) rs747224942
NM_024642.5(GALNT12):c.510A>T (p.Glu170Asp)
NM_024642.5(GALNT12):c.511G>A (p.Val171Met)
NM_024642.5(GALNT12):c.514A>T (p.Ile172Phe)
NM_024642.5(GALNT12):c.518T>C (p.Leu173Pro)
NM_024642.5(GALNT12):c.520G>A (p.Val174Ile)
NM_024642.5(GALNT12):c.524A>G (p.Asp175Gly)
NM_024642.5(GALNT12):c.527A>T (p.Asp176Val)
NM_024642.5(GALNT12):c.530A>C (p.Tyr177Ser) rs867136237
NM_024642.5(GALNT12):c.532A>G (p.Ser178Gly) rs1835790432
NM_024642.5(GALNT12):c.533G>A (p.Ser178Asn)
NM_024642.5(GALNT12):c.536A>G (p.Asp179Gly)
NM_024642.5(GALNT12):c.538A>G (p.Arg180Gly) rs1835790665
NM_024642.5(GALNT12):c.541+1del rs1588444776
NM_024642.5(GALNT12):c.541+3G>T
NM_024642.5(GALNT12):c.541G>C (p.Glu181Gln)
NM_024642.5(GALNT12):c.542A>G (p.Glu181Gly) rs1588446473
NM_024642.5(GALNT12):c.543G>T (p.Glu181Asp)
NM_024642.5(GALNT12):c.544C>T (p.His182Tyr) rs1835864292
NM_024642.5(GALNT12):c.546C>A (p.His182Gln)
NM_024642.5(GALNT12):c.548T>C (p.Leu183Pro)
NM_024642.5(GALNT12):c.551A>T (p.Lys184Met)
NM_024642.5(GALNT12):c.553G>A (p.Glu185Lys)
NM_024642.5(GALNT12):c.554A>T (p.Glu185Val)
NM_024642.5(GALNT12):c.556C>G (p.Arg186Gly)
NM_024642.5(GALNT12):c.556C>T (p.Arg186Cys) rs750758049
NM_024642.5(GALNT12):c.557G>A (p.Arg186His)
NM_024642.5(GALNT12):c.557G>C (p.Arg186Pro)
NM_024642.5(GALNT12):c.557G>T (p.Arg186Leu)
NM_024642.5(GALNT12):c.560T>C (p.Leu187Ser)
NM_024642.5(GALNT12):c.561G>C (p.Leu187Phe)
NM_024642.5(GALNT12):c.563C>T (p.Ala188Val) rs2118376150
NM_024642.5(GALNT12):c.565A>G (p.Asn189Asp)
NM_024642.5(GALNT12):c.566A>T (p.Asn189Ile)
NM_024642.5(GALNT12):c.567T>G (p.Asn189Lys)
NM_024642.5(GALNT12):c.568G>C (p.Glu190Gln)
NM_024642.5(GALNT12):c.569A>G (p.Glu190Gly)
NM_024642.5(GALNT12):c.571C>A (p.Leu191Ile)
NM_024642.5(GALNT12):c.571C>G (p.Leu191Val)
NM_024642.5(GALNT12):c.574T>G (p.Ser192Ala)
NM_024642.5(GALNT12):c.575C>G (p.Ser192Trp)
NM_024642.5(GALNT12):c.575C>T (p.Ser192Leu)
NM_024642.5(GALNT12):c.578G>C (p.Gly193Ala) rs1835865743
NM_024642.5(GALNT12):c.580C>G (p.Leu194Val) rs1588446515
NM_024642.5(GALNT12):c.583C>T (p.Pro195Ser) rs2118376466
NM_024642.5(GALNT12):c.584C>G (p.Pro195Arg)
NM_024642.5(GALNT12):c.587A>G (p.Lys196Arg)
NM_024642.5(GALNT12):c.592C>T (p.Arg198Cys)
NM_024642.5(GALNT12):c.593G>T (p.Arg198Leu)
NM_024642.5(GALNT12):c.594C>T (p.Arg198=)
NM_024642.5(GALNT12):c.599T>G (p.Ile200Ser)
NM_024642.5(GALNT12):c.5G>A (p.Trp2Ter) rs898798901
NM_024642.5(GALNT12):c.5G>C (p.Trp2Ser) rs898798901
NM_024642.5(GALNT12):c.600C>G (p.Ile200Met)
NM_024642.5(GALNT12):c.601C>G (p.Arg201Gly) rs372616005
NM_024642.5(GALNT12):c.601C>T (p.Arg201Cys)
NM_024642.5(GALNT12):c.602G>A (p.Arg201His) rs776800914
NM_024642.5(GALNT12):c.604G>A (p.Ala202Thr) rs762155395
NM_024642.5(GALNT12):c.604G>C (p.Ala202Pro)
NM_024642.5(GALNT12):c.604G>T (p.Ala202Ser)
NM_024642.5(GALNT12):c.610A>G (p.Lys204Glu)
NM_024642.5(GALNT12):c.610_611del (p.Lys204fs)
NM_024642.5(GALNT12):c.611A>G (p.Lys204Arg) rs1835868057
NM_024642.5(GALNT12):c.613A>T (p.Arg205Ter)
NM_024642.5(GALNT12):c.614G>A (p.Arg205Lys)
NM_024642.5(GALNT12):c.615A>C (p.Arg205Ser) rs1588446598
NM_024642.5(GALNT12):c.617A>G (p.Glu206Gly)
NM_024642.5(GALNT12):c.617_618del (p.Glu206fs)
NM_024642.5(GALNT12):c.618G>T (p.Glu206Asp) rs752104405
NM_024642.5(GALNT12):c.619G>A (p.Gly207Ser)
NM_024642.5(GALNT12):c.623T>A (p.Leu208Gln)
NM_024642.5(GALNT12):c.628C>G (p.Arg210Gly)
NM_024642.5(GALNT12):c.628C>T (p.Arg210Ter)
NM_024642.5(GALNT12):c.629G>A (p.Arg210Gln)
NM_024642.5(GALNT12):c.629G>C (p.Arg210Pro) rs780705882
NM_024642.5(GALNT12):c.631G>T (p.Ala211Ser)
NM_024642.5(GALNT12):c.632C>A (p.Ala211Asp)
NM_024642.5(GALNT12):c.634del (p.Arg212fs)
NM_024642.5(GALNT12):c.638T>G (p.Leu213Arg)
NM_024642.5(GALNT12):c.640C>G (p.Leu214Val)
NM_024642.5(GALNT12):c.641T>C (p.Leu214Pro)
NM_024642.5(GALNT12):c.643G>C (p.Gly215Arg)
NM_024642.5(GALNT12):c.646G>A (p.Ala216Thr) rs770798296
NM_024642.5(GALNT12):c.646G>T (p.Ala216Ser)
NM_024642.5(GALNT12):c.647C>T (p.Ala216Val)
NM_024642.5(GALNT12):c.655G>A (p.Ala219Thr)
NM_024642.5(GALNT12):c.655_656delinsAA (p.Ala219Lys)
NM_024642.5(GALNT12):c.656C>A (p.Ala219Glu)
NM_024642.5(GALNT12):c.656C>T (p.Ala219Val)
NM_024642.5(GALNT12):c.659G>C (p.Arg220Thr)
NM_024642.5(GALNT12):c.662G>A (p.Gly221Asp)
NM_024642.5(GALNT12):c.662G>C (p.Gly221Ala)
NM_024642.5(GALNT12):c.664G>T (p.Asp222Tyr)
NM_024642.5(GALNT12):c.667G>T (p.Val223Phe)
NM_024642.5(GALNT12):c.673A>T (p.Thr225Ser) rs531023279
NM_024642.5(GALNT12):c.680T>A (p.Leu227Gln) rs763057175
NM_024642.5(GALNT12):c.682G>C (p.Asp228His)
NM_024642.5(GALNT12):c.683A>C (p.Asp228Ala)
NM_024642.5(GALNT12):c.683A>T (p.Asp228Val)
NM_024642.5(GALNT12):c.689dup (p.His230fs)
NM_024642.5(GALNT12):c.691T>A (p.Cys231Ser)
NM_024642.5(GALNT12):c.692G>T (p.Cys231Phe)
NM_024642.5(GALNT12):c.693_694del (p.Cys231_Glu232delinsTer)
NM_024642.5(GALNT12):c.705A>C (p.Glu235Asp)
NM_024642.5(GALNT12):c.707G>T (p.Gly236Val)
NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)
NM_024642.5(GALNT12):c.713T>C (p.Leu238Pro) rs755708201
NM_024642.5(GALNT12):c.714G>A (p.Leu238=)
NM_024642.5(GALNT12):c.728A>C (p.Gln243Pro)
NM_024642.5(GALNT12):c.731+3A>G
NM_024642.5(GALNT12):c.731+5G>A
NM_024642.5(GALNT12):c.731G>A (p.Arg244Lys)
NM_024642.5(GALNT12):c.732-2A>G rs1588449802
NM_024642.5(GALNT12):c.732-4_771dup rs745921546
NM_024642.5(GALNT12):c.732-5T>G
NM_024642.5(GALNT12):c.734T>C (p.Ile245Thr)
NM_024642.5(GALNT12):c.737A>G (p.His246Arg)
NM_024642.5(GALNT12):c.744G>C (p.Glu248Asp) rs1588449816
NM_024642.5(GALNT12):c.745G>A (p.Glu249Lys)
NM_024642.5(GALNT12):c.748T>C (p.Ser250Pro)
NM_024642.5(GALNT12):c.752C>T (p.Ala251Val)
NM_024642.5(GALNT12):c.754G>A (p.Val252Met)
NM_024642.5(GALNT12):c.755T>A (p.Val252Glu)
NM_024642.5(GALNT12):c.760T>C (p.Cys254Arg) rs750084638
NM_024642.5(GALNT12):c.760T>G (p.Cys254Gly)
NM_024642.5(GALNT12):c.764C>G (p.Pro255Arg)
NM_024642.5(GALNT12):c.766del (p.Pro255_Val256insTer)
NM_024642.5(GALNT12):c.767T>G (p.Val256Gly)
NM_024642.5(GALNT12):c.770T>C (p.Ile257Thr)
NM_024642.5(GALNT12):c.775G>A (p.Val259Met)
NM_024642.5(GALNT12):c.776T>G (p.Val259Gly) rs147356342
NM_024642.5(GALNT12):c.778A>G (p.Ile260Val)
NM_024642.5(GALNT12):c.778A>T (p.Ile260Phe)
NM_024642.5(GALNT12):c.780C>G (p.Ile260Met) rs777942439
NM_024642.5(GALNT12):c.781G>C (p.Asp261His) rs41306504
NM_024642.5(GALNT12):c.781G>T (p.Asp261Tyr)
NM_024642.5(GALNT12):c.782A>G (p.Asp261Gly)
NM_024642.5(GALNT12):c.783C>G (p.Asp261Glu)
NM_024642.5(GALNT12):c.785G>A (p.Trp262Ter)
NM_024642.5(GALNT12):c.788A>G (p.Asn263Ser)
NM_024642.5(GALNT12):c.790A>C (p.Thr264Pro)
NM_024642.5(GALNT12):c.795C>A (p.Phe265Leu) rs774616588
NM_024642.5(GALNT12):c.796G>C (p.Glu266Gln)
NM_024642.5(GALNT12):c.797A>G (p.Glu266Gly) rs1454775771
NM_024642.5(GALNT12):c.7G>C (p.Gly3Arg)
NM_024642.5(GALNT12):c.803T>C (p.Leu268Pro)
NM_024642.5(GALNT12):c.809A>T (p.Asn270Ile) rs1416100156
NM_024642.5(GALNT12):c.811T>C (p.Ser271Pro)
NM_024642.5(GALNT12):c.815G>C (p.Gly272Ala)
NM_024642.5(GALNT12):c.819G>T (p.Glu273Asp)
NM_024642.5(GALNT12):c.820C>G (p.Pro274Ala)
NM_024642.5(GALNT12):c.824A>T (p.Gln275Leu)
NM_024642.5(GALNT12):c.825G>C (p.Gln275His)
NM_024642.5(GALNT12):c.828C>G (p.Ile276Met)
NM_024642.5(GALNT12):c.830G>A (p.Gly277Asp)
NM_024642.5(GALNT12):c.832G>C (p.Gly278Arg)
NM_024642.5(GALNT12):c.833G>C (p.Gly278Ala)
NM_024642.5(GALNT12):c.833G>T (p.Gly278Val)
NM_024642.5(GALNT12):c.833del (p.Gly278fs)
NM_024642.5(GALNT12):c.835T>G (p.Phe279Val)
NM_024642.5(GALNT12):c.837C>A (p.Phe279Leu) rs754951224
NM_024642.5(GALNT12):c.838G>A (p.Asp280Asn) rs748104709
NM_024642.5(GALNT12):c.838G>T (p.Asp280Tyr) rs748104709
NM_024642.5(GALNT12):c.839A>G (p.Asp280Gly)
NM_024642.5(GALNT12):c.841T>C (p.Trp281Arg)
NM_024642.5(GALNT12):c.842G>A (p.Trp281Ter)
NM_024642.5(GALNT12):c.844A>T (p.Arg282Trp)
NM_024642.5(GALNT12):c.847C>G (p.Leu283Val)
NM_024642.5(GALNT12):c.851T>C (p.Val284Ala) rs1588449987
NM_024642.5(GALNT12):c.866C>G (p.Thr289Arg) rs1588450015
NM_024642.5(GALNT12):c.866C>T (p.Thr289Ile)
NM_024642.5(GALNT12):c.869T>C (p.Val290Ala)
NM_024642.5(GALNT12):c.872C>T (p.Pro291Leu)
NM_024642.5(GALNT12):c.874G>C (p.Glu292Gln) rs1588450031
NM_024642.5(GALNT12):c.874_876delinsAA (p.Glu292fs) rs1060502969
NM_024642.5(GALNT12):c.876_917+174del
NM_024642.5(GALNT12):c.882G>C (p.Glu294Asp)
NM_024642.5(GALNT12):c.884G>T (p.Arg295Met)
NM_024642.5(GALNT12):c.885G>T (p.Arg295Ser)
NM_024642.5(GALNT12):c.886A>T (p.Ile296Leu)
NM_024642.5(GALNT12):c.887T>C (p.Ile296Thr)
NM_024642.5(GALNT12):c.894G>A (p.Met298Ile) rs1429382002
NM_024642.5(GALNT12):c.897del (p.Gln299fs)
NM_024642.5(GALNT12):c.898T>C (p.Ser300Pro)
NM_024642.5(GALNT12):c.8G>A (p.Gly3Glu)
NM_024642.5(GALNT12):c.901C>G (p.Pro301Ala)
NM_024642.5(GALNT12):c.910G>C (p.Val304Leu)
NM_024642.5(GALNT12):c.911T>A (p.Val304Asp)
NM_024642.5(GALNT12):c.911T>C (p.Val304Ala)
NM_024642.5(GALNT12):c.913A>G (p.Ile305Val) rs1588450129
NM_024642.5(GALNT12):c.914T>C (p.Ile305Thr) rs1836010243
NM_024642.5(GALNT12):c.918-3T>A
NM_024642.5(GALNT12):c.919T>C (p.Ser307Pro) rs1313362587
NM_024642.5(GALNT12):c.920C>A (p.Ser307Tyr)
NM_024642.5(GALNT12):c.920C>T (p.Ser307Phe)
NM_024642.5(GALNT12):c.922C>A (p.Pro308Thr)
NM_024642.5(GALNT12):c.922C>G (p.Pro308Ala)
NM_024642.5(GALNT12):c.926C>A (p.Thr309Lys)
NM_024642.5(GALNT12):c.926C>T (p.Thr309Ile)
NM_024642.5(GALNT12):c.928A>G (p.Met310Val)
NM_024642.5(GALNT12):c.929T>A (p.Met310Lys)
NM_024642.5(GALNT12):c.930G>A (p.Met310Ile)
NM_024642.5(GALNT12):c.931G>A (p.Ala311Thr)
NM_024642.5(GALNT12):c.934G>T (p.Gly312Cys)
NM_024642.5(GALNT12):c.945T>G (p.Phe315Leu)
NM_024642.5(GALNT12):c.946G>C (p.Ala316Pro)
NM_024642.5(GALNT12):c.947C>G (p.Ala316Gly)
NM_024642.5(GALNT12):c.947C>T (p.Ala316Val)
NM_024642.5(GALNT12):c.949G>A (p.Val317Met)
NM_024642.5(GALNT12):c.949G>C (p.Val317Leu)
NM_024642.5(GALNT12):c.953_962del (p.Ser318fs)
NM_024642.5(GALNT12):c.959A>C (p.Lys320Thr)
NM_024642.5(GALNT12):c.965T>A (p.Phe322Tyr)
NM_024642.5(GALNT12):c.977G>C (p.Gly326Ala)
NM_024642.5(GALNT12):c.983A>G (p.Tyr328Cys) rs1017576138
NM_024642.5(GALNT12):c.985G>A (p.Asp329Asn) rs267602051
NM_024642.5(GALNT12):c.989C>A (p.Thr330Lys)
NM_024642.5(GALNT12):c.995T>C (p.Met332Thr)
NM_024642.5(GALNT12):c.999A>C (p.Glu333Asp)
NM_024642.5(GALNT12):c.999del (p.Val334fs)

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