ClinVar Miner

List of variants in gene GALNS studied for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 949
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.120+1532G>C rs34150867 0.38226
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000512.5(GALNS):c.1483-32G>C rs11076716 0.19802
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
NM_000512.5(GALNS):c.898+42G>C rs76095307 0.05085
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_000512.5(GALNS):c.121-210C>T rs75552025 0.00974
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_000512.5(GALNS):c.*236C>T rs189375208 0.00701
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.*546C>T rs114447455 0.00455
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.759-67G>A rs565875595 0.00305
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000512.5(GALNS):c.566+5T>C rs3743545 0.00118
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627 0.00077
NM_000512.5(GALNS):c.*523G>A rs181174683 0.00076
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014 0.00068
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_000512.5(GALNS):c.1551G>A (p.Lys517=) rs148182125 0.00053
NM_000512.5(GALNS):c.*197C>T rs187469283 0.00051
NM_000512.5(GALNS):c.*573A>G rs551511278 0.00047
NM_000512.5(GALNS):c.252G>A (p.Ala84=) rs377250967 0.00038
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000512.5(GALNS):c.1364+8G>A rs368171136 0.00034
NM_000512.5(GALNS):c.634-13G>A rs372009899 0.00034
NM_000512.5(GALNS):c.*140C>A rs557356503 0.00031
NM_000512.5(GALNS):c.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.412G>A (p.Val138Ile) rs140018158 0.00029
NM_000512.5(GALNS):c.*29A>C rs377151771 0.00027
NM_000512.5(GALNS):c.1002+18G>A rs376019383 0.00024
NM_000512.5(GALNS):c.756G>A (p.Gly252=) rs146538873 0.00021
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494 0.00021
NM_000512.5(GALNS):c.1242+16C>T rs373098107 0.00020
NM_000512.5(GALNS):c.*656T>C rs763539126 0.00019
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn) rs202031547 0.00018
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_000512.5(GALNS):c.633+12C>T rs199726408 0.00015
NM_000512.5(GALNS):c.699C>T (p.Asp233=) rs374694424 0.00015
NM_000512.5(GALNS):c.*287T>C rs776880179 0.00014
NM_000512.5(GALNS):c.899-6T>C rs374850312 0.00014
NM_000512.5(GALNS):c.1135G>A (p.Asp379Asn) rs146471218 0.00011
NM_000512.5(GALNS):c.1161C>T (p.Gly387=) rs376919708 0.00011
NM_000512.5(GALNS):c.138C>T (p.Leu46=) rs140588640 0.00009
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000512.5(GALNS):c.901G>T (p.Gly301Cys) rs118204443 0.00009
NM_000512.5(GALNS):c.1003-19T>C rs368105385 0.00008
NM_000512.5(GALNS):c.337A>T (p.Ile113Phe) rs118204438 0.00008
NM_000512.5(GALNS):c.969C>T (p.Leu323=) rs373218044 0.00008
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390 0.00006
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437 0.00006
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg) rs371459975 0.00006
NM_000512.5(GALNS):c.1269C>T (p.Asn423=) rs148709901 0.00006
NM_000512.5(GALNS):c.1364+6T>A rs377120480 0.00006
NM_000512.5(GALNS):c.360G>A (p.Ser120=) rs368060807 0.00006
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln) rs140162658 0.00006
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00006
NM_000512.5(GALNS):c.909C>T (p.Asn303=) rs751446283 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile) rs768180795 0.00005
NM_000512.5(GALNS):c.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000512.5(GALNS):c.833C>T (p.Ala278Val) rs141544939 0.00005
NM_000512.5(GALNS):c.*145C>T rs539285988 0.00004
NM_000512.5(GALNS):c.*95T>A rs536448022 0.00004
NM_000512.5(GALNS):c.1002+10C>T rs746669295 0.00004
NM_000512.5(GALNS):c.1139+20C>T rs762116692 0.00004
NM_000512.5(GALNS):c.121-18C>T rs200396173 0.00004
NM_000512.5(GALNS):c.168C>G (p.Thr56=) rs368128023 0.00004
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp) rs145798311 0.00004
NM_000512.5(GALNS):c.415G>A (p.Gly139Ser) rs146093755 0.00004
NM_000512.5(GALNS):c.715G>A (p.Val239Ile) rs145131011 0.00004
NM_000512.5(GALNS):c.740G>A (p.Gly247Asp) rs761385192 0.00004
NM_000512.5(GALNS):c.828C>T (p.His276=) rs759216815 0.00004
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr) rs377591464 0.00004
NM_000512.5(GALNS):c.899-19A>G rs759805854 0.00004
NM_000512.5(GALNS):c.*610G>T rs755706847 0.00003
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu) rs769748679 0.00003
NM_000512.5(GALNS):c.1139+19C>T rs777834560 0.00003
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr) rs2303270 0.00003
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys) rs374798170 0.00003
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp) rs557217245 0.00003
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys) rs886039377 0.00003
NM_000512.5(GALNS):c.178G>A (p.Asp60Asn) rs118204447 0.00003
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln) rs754731091 0.00003
NM_000512.5(GALNS):c.330G>A (p.Pro110=) rs374355420 0.00003
NM_000512.5(GALNS):c.331C>T (p.Gln111Ter) rs200374326 0.00003
NM_000512.5(GALNS):c.640C>G (p.Leu214Val) rs1424752390 0.00003
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745 0.00003
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr) rs550139020 0.00003
NM_000512.5(GALNS):c.772G>A (p.Val258Ile) rs779257235 0.00003
NM_000512.5(GALNS):c.822C>T (p.Asp274=) rs764817769 0.00003
NM_000512.5(GALNS):c.871G>A (p.Ala291Thr) rs118204448 0.00003
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881 0.00003
NM_000512.5(GALNS):c.885C>T (p.Ser295=) rs766121335 0.00003
NM_000512.5(GALNS):c.*263T>C rs886052451 0.00002
NM_000512.5(GALNS):c.1005G>C (p.Val335=) rs772871566 0.00002
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val) rs761386453 0.00002
NM_000512.5(GALNS):c.1059G>A (p.Ala353=) rs768334388 0.00002
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val) rs758802414 0.00002
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser) rs150111302 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.1157G>A (p.Arg386His) rs1221167717 0.00002
NM_000512.5(GALNS):c.1171A>G (p.Met391Val) rs398123429 0.00002
NM_000512.5(GALNS):c.1242+17G>A rs1159726808 0.00002
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu) rs542835085 0.00002
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val) rs201153945 0.00002
NM_000512.5(GALNS):c.245-11C>T rs552476248 0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu) rs371429653 0.00002
NM_000512.5(GALNS):c.256C>T (p.Leu86=) rs190707335 0.00002
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr) rs372585484 0.00002
NM_000512.5(GALNS):c.319G>A (p.Ala107Thr) rs763184657 0.00002
NM_000512.5(GALNS):c.327A>C (p.Thr109=) rs759916392 0.00002
NM_000512.5(GALNS):c.453C>A (p.Pro151=) rs752021223 0.00002
NM_000512.5(GALNS):c.498del (p.Phe167fs) rs772656696 0.00002
NM_000512.5(GALNS):c.522C>G (p.Ala174=) rs891821999 0.00002
NM_000512.5(GALNS):c.628C>T (p.Leu210=) rs780787351 0.00002
NM_000512.5(GALNS):c.651_652insG (p.Lys218fs) rs1468285336 0.00002
NM_000512.5(GALNS):c.663A>T (p.Ala221=) rs749077864 0.00002
NM_000512.5(GALNS):c.776G>A (p.Arg259Gln) rs118204442 0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354 0.00002
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys) rs759590432 0.00002
NM_000512.5(GALNS):c.935C>G (p.Thr312Ser) rs118204446 0.00002
NM_000512.5(GALNS):c.938C>T (p.Thr313Met) rs894525161 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000512.5(GALNS):c.*144T>C rs1157099470 0.00001
NM_000512.5(GALNS):c.*186C>G rs1032068378 0.00001
NM_000512.5(GALNS):c.*20C>G rs886052454 0.00001
NM_000512.5(GALNS):c.*503T>G rs573836350 0.00001
NM_000512.5(GALNS):c.*639T>G rs1186947306 0.00001
NM_000512.5(GALNS):c.*86C>T rs897826613 0.00001
NM_000512.5(GALNS):c.1002+11G>A rs777624961 0.00001
NM_000512.5(GALNS):c.1003-10T>C rs753249472 0.00001
NM_000512.5(GALNS):c.1008C>T (p.Ser336=) rs886052456 0.00001
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter) rs767131589 0.00001
NM_000512.5(GALNS):c.1062C>T (p.Gly354=) rs1910972322 0.00001
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met) rs1017572961 0.00001
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe) rs368784505 0.00001
NM_000512.5(GALNS):c.1125C>T (p.Gly375=) rs773846201 0.00001
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp) rs762690924 0.00001
NM_000512.5(GALNS):c.1162G>A (p.Asp388Asn) rs373739301 0.00001
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu) rs752339162 0.00001
NM_000512.5(GALNS):c.1175C>T (p.Ala392Val) rs398123430 0.00001
NM_000512.5(GALNS):c.1176G>A (p.Ala392=) rs398123431 0.00001
NM_000512.5(GALNS):c.1182C>A (p.Thr394=) rs1414082372 0.00001
NM_000512.5(GALNS):c.121-31T>C rs776895500 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000512.5(GALNS):c.121A>T (p.Met41Leu) rs1283377907 0.00001
NM_000512.5(GALNS):c.1230G>A (p.Glu410=) rs567507214 0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter) rs757870208 0.00001
NM_000512.5(GALNS):c.1319del (p.Leu440fs) rs1567517083 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1483-1G>A rs1223848239 0.00001
NM_000512.5(GALNS):c.1483-1G>C rs1223848239 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser) rs1454253268 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe) rs398123433 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn) rs1967037775 0.00001
NM_000512.5(GALNS):c.184A>T (p.Met62Leu) rs1367462378 0.00001
NM_000512.5(GALNS):c.235T>C (p.Cys79Arg) rs1478665723 0.00001
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser) rs765151762 0.00001
NM_000512.5(GALNS):c.243A>G (p.Pro81=) rs759476855 0.00001
NM_000512.5(GALNS):c.244+20G>A rs373227121 0.00001
NM_000512.5(GALNS):c.244T>C (p.Ser82Pro) rs1338871013 0.00001
NM_000512.5(GALNS):c.251C>T (p.Ala84Val) rs141340188 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 0.00001
NM_000512.5(GALNS):c.278T>A (p.Ile93Asn) rs1966993165 0.00001
NM_000512.5(GALNS):c.280C>T (p.Arg94Cys) rs118204441 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.320-13G>A rs113186480 0.00001
NM_000512.5(GALNS):c.320-1G>T rs1245504167 0.00001
NM_000512.5(GALNS):c.338T>C (p.Ile113Thr) rs979373729 0.00001
NM_000512.5(GALNS):c.376G>T (p.Glu126Ter) rs1177468816 0.00001
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser) rs766859208 0.00001
NM_000512.5(GALNS):c.399C>T (p.Tyr133=) rs761206910 0.00001
NM_000512.5(GALNS):c.406A>C (p.Lys136Gln) rs750953060 0.00001
NM_000512.5(GALNS):c.422+17C>T rs748212930 0.00001
NM_000512.5(GALNS):c.422G>A (p.Trp141Ter) rs746862066 0.00001
NM_000512.5(GALNS):c.441C>T (p.Pro147=) rs756456652 0.00001
NM_000512.5(GALNS):c.451C>A (p.Pro151Thr) rs781439830 0.00001
NM_000512.5(GALNS):c.452C>T (p.Pro151Leu) rs559063128 0.00001
NM_000512.5(GALNS):c.463G>A (p.Gly155Arg) rs398123438 0.00001
NM_000512.5(GALNS):c.466T>C (p.Phe156Leu) rs1308500116 0.00001
NM_000512.5(GALNS):c.477G>A (p.Trp159Ter) rs398123439 0.00001
NM_000512.5(GALNS):c.485C>T (p.Ser162Phe) rs118204444 0.00001
NM_000512.5(GALNS):c.502G>A (p.Gly168Arg) rs775732598 0.00001
NM_000512.5(GALNS):c.551G>A (p.Trp184Ter) rs779545826 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu) rs772413313 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111 0.00001
NM_000512.5(GALNS):c.647T>C (p.Phe216Ser) rs747805226 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 0.00001
NM_000512.5(GALNS):c.706C>T (p.His236Tyr) rs1228027865 0.00001
NM_000512.5(GALNS):c.719A>G (p.Tyr240Cys) rs752039956 0.00001
NM_000512.5(GALNS):c.752G>A (p.Arg251Gln) rs1199639828 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln) rs769560969 0.00001
NM_000512.5(GALNS):c.759-3C>G rs776430057 0.00001
NM_000512.5(GALNS):c.763G>A (p.Gly255Arg) rs1336648211 0.00001
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu) rs1912009292 0.00001
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr) rs773283163 0.00001
NM_000512.5(GALNS):c.847G>A (p.Val283Ile) rs772097990 0.00001
NM_000512.5(GALNS):c.868G>A (p.Gly290Ser) rs975409254 0.00001
NM_000512.5(GALNS):c.898+1G>A rs761850746 0.00001
NM_000512.5(GALNS):c.898+1G>C rs761850746 0.00001
NM_000512.5(GALNS):c.898+4A>G rs774518058 0.00001
NM_000512.5(GALNS):c.899-13C>T rs938443899 0.00001
NM_000512.5(GALNS):c.899-1G>C rs745523154 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu) rs1057518404 0.00001
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg) rs556060696 0.00001
NM_000512.5(GALNS):c.952A>T (p.Met318Leu) rs537013895 0.00001
NM_000512.5(GALNS):c.953T>G (p.Met318Arg) rs746756997 0.00001
NM_000512.5(GALNS):c.987C>T (p.His329=) rs750730964 0.00001
NM_000512.5(GALNS):c.988G>A (p.Val330Ile) rs767856715 0.00001
NM_000512.5(GALNS):c.993T>C (p.Thr331=) rs762154863 0.00001
NC_000016.10:g.(?_88822569)_(88842849_?)del
NC_000016.10:g.(?_88826682)_(88826858_?)del
NC_000016.10:g.(?_88837602)_(88842849_?)del
NC_000016.10:g.(?_88840972)_(88842849_?)del
NC_000016.10:g.88832102del rs2142999219
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NC_000016.9:g.(?_88908285)_(88908399_?)dup
NC_000016.9:g.(?_88923146)_(88923285_?)del
NM_000512.4(GALNS):c.413T>C (p.Val138Ala) rs118204436
NM_000512.5(GALNS):c.*123G>C rs886052453
NM_000512.5(GALNS):c.*207G>T rs886052452
NM_000512.5(GALNS):c.*261T>G rs915733731
NM_000512.5(GALNS):c.*270T>C rs1909389591
NM_000512.5(GALNS):c.*387T>G rs1909377767
NM_000512.5(GALNS):c.*520C>A rs80125890
NM_000512.5(GALNS):c.*70T>C rs933630786
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter) rs1567526805
NM_000512.5(GALNS):c.1002+16C>G
NM_000512.5(GALNS):c.1002+16C>T
NM_000512.5(GALNS):c.1002+19G>C
NM_000512.5(GALNS):c.1002+19G>T
NM_000512.5(GALNS):c.1002+307G>C rs866140272
NM_000512.5(GALNS):c.1002+4A>T
NM_000512.5(GALNS):c.1002+7C>G
NM_000512.5(GALNS):c.1002+8A>G
NM_000512.5(GALNS):c.1003-1570G>T rs2142996885
NM_000512.5(GALNS):c.1003-16C>T
NM_000512.5(GALNS):c.1003-2A>C rs1344555845
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.1009del (p.His337fs) rs2142995881
NM_000512.5(GALNS):c.1011C>T (p.His337=)
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg) rs1244322663
NM_000512.5(GALNS):c.1018G>A (p.Gly340Ser)
NM_000512.5(GALNS):c.1019G>A (p.Gly340Asp) rs267606838
NM_000512.5(GALNS):c.1021A>C (p.Ser341Arg)
NM_000512.5(GALNS):c.1023C>A (p.Ser341Arg)
NM_000512.5(GALNS):c.1023C>G (p.Ser341Arg) rs2142995871
NM_000512.5(GALNS):c.1027A>T (p.Met343Leu) rs1910977435
NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn) rs2142995864
NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu) rs1407467035
NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro) rs2142995853
NM_000512.5(GALNS):c.1035C>T (p.Leu345=)
NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu) rs766504053
NM_000512.5(GALNS):c.1038C>T (p.Phe346=)
NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala) rs1597547797
NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn) rs368305568
NM_000512.5(GALNS):c.1046del (p.Ser349fs) rs2142995845
NM_000512.5(GALNS):c.1049T>C (p.Leu350Pro) rs1910973930
NM_000512.5(GALNS):c.1050G>C (p.Leu350=)
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro) rs2142995830
NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu) rs774113183
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val) rs774113183
NM_000512.5(GALNS):c.1068G>A (p.Thr356=)
NM_000512.5(GALNS):c.1070del (p.Pro357fs) rs2142995810
NM_000512.5(GALNS):c.1071G>T (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1077C>T (p.Ser359=)
NM_000512.5(GALNS):c.1082G>T (p.Arg361Met) rs2142995799
NM_000512.5(GALNS):c.1083G>A (p.Arg361=) rs2142995796
NM_000512.5(GALNS):c.1086C>T (p.Ala362=) rs2142995793
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val) rs2142995782
NM_000512.5(GALNS):c.1095C>T (p.Gly365=)
NM_000512.5(GALNS):c.1097T>C (p.Leu366Pro) rs971227692
NM_000512.5(GALNS):c.1101C>T (p.Asn367=)
NM_000512.5(GALNS):c.1104C>A (p.Leu368=)
NM_000512.5(GALNS):c.1104C>T (p.Leu368=) rs1322856128
NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro) rs2142995771
NM_000512.5(GALNS):c.1110C>T (p.Pro370=)
NM_000512.5(GALNS):c.1113C>G (p.Thr371=)
NM_000512.5(GALNS):c.1113C>T (p.Thr371=) rs375098009
NM_000512.5(GALNS):c.1114del (p.Leu372fs) rs2142995760
NM_000512.5(GALNS):c.1119G>C (p.Leu373=)
NM_000512.5(GALNS):c.1120C>T (p.Gln374Ter) rs761455237
NM_000512.5(GALNS):c.1122G>A (p.Gln374=)
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly) rs770908172
NM_000512.5(GALNS):c.1139+14C>T
NM_000512.5(GALNS):c.1139+18C>A
NM_000512.5(GALNS):c.1139+1G>A rs765608680
NM_000512.5(GALNS):c.1139+20del
NM_000512.5(GALNS):c.1139+2T>C
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr) rs2142995734
NM_000512.5(GALNS):c.1140-10C>G
NM_000512.5(GALNS):c.1140-14C>T
NM_000512.5(GALNS):c.1140-15C>T rs1910644710
NM_000512.5(GALNS):c.1140-20C>T
NM_000512.5(GALNS):c.1140-5C>T rs1181279151
NM_000512.5(GALNS):c.1140G>T (p.Arg380Ser) rs200763834
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.1142del (p.Pro381fs) rs746086649
NM_000512.5(GALNS):c.1146C>T (p.Ile382=)
NM_000512.5(GALNS):c.1155C>A (p.Tyr385Ter) rs1426905479
NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser) rs118204437
NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser) rs1910641750
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)
NM_000512.5(GALNS):c.1164C>T (p.Asp388=)
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)
NM_000512.5(GALNS):c.1167G>A (p.Thr389=)
NM_000512.5(GALNS):c.1168del (p.Thr389_Leu390insTer) rs2142993865
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.1176_1177delinsAT (p.Ala393Ser) rs2142993851
NM_000512.5(GALNS):c.1177_1178insT (p.Ala393fs) rs2142993846
NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro) rs2142993839
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val) rs767701478
NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro) rs1227964288
NM_000512.5(GALNS):c.1185C>T (p.Leu395=)
NM_000512.5(GALNS):c.1188del (p.Gln397fs) rs2142993827
NM_000512.5(GALNS):c.1192C>G (p.His398Asp) rs1910635964
NM_000512.5(GALNS):c.1192del (p.His398fs) rs1910636198
NM_000512.5(GALNS):c.1196A>C (p.Lys399Thr) rs1267791852
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg) rs1267791852
NM_000512.5(GALNS):c.1196del (p.Lys399fs) rs2142993816
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr) rs2142993806
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.1209G>A (p.Trp403Ter) rs2142993804
NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer) rs2142993802
NM_000512.5(GALNS):c.121-10T>C
NM_000512.5(GALNS):c.121-12T>C
NM_000512.5(GALNS):c.121-157C>T
NM_000512.5(GALNS):c.121-16G>A
NM_000512.5(GALNS):c.121-16G>C
NM_000512.5(GALNS):c.121-16G>T rs113230137
NM_000512.5(GALNS):c.121-17C>T
NM_000512.5(GALNS):c.121-18C>A
NM_000512.5(GALNS):c.121-18C>G
NM_000512.5(GALNS):c.121-19C>T
NM_000512.5(GALNS):c.121-1G>A rs1312522259
NM_000512.5(GALNS):c.121-1G>C rs1312522259
NM_000512.5(GALNS):c.121-1G>T rs1312522259
NM_000512.5(GALNS):c.121-202A>G rs550044789
NM_000512.5(GALNS):c.121-20C>T
NM_000512.5(GALNS):c.121-2A>G rs1567538216
NM_000512.5(GALNS):c.121-2_121-1insTGCATTTGCTGGCATA
NM_000512.5(GALNS):c.121-338_244+1del
NM_000512.5(GALNS):c.121-5T>C
NM_000512.5(GALNS):c.121-6C>T
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.121-9T>G rs2143005573
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro) rs2142993800
NM_000512.5(GALNS):c.1214G>A (p.Trp405Ter) rs2142993795
NM_000512.5(GALNS):c.1215G>A (p.Trp405Ter) rs2142993793
NM_000512.5(GALNS):c.1221C>G (p.Asn407Lys) rs2142993785
NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser) rs2142993782
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1241dup (p.Ile416fs) rs1910631809
NM_000512.5(GALNS):c.1242+10T>C
NM_000512.5(GALNS):c.1242+11C>T
NM_000512.5(GALNS):c.1242+12G>A
NM_000512.5(GALNS):c.1242+12G>C
NM_000512.5(GALNS):c.1242+13G>C
NM_000512.5(GALNS):c.1242+17G>T
NM_000512.5(GALNS):c.1242+18T>G
NM_000512.5(GALNS):c.1242+19G>T
NM_000512.5(GALNS):c.1242+1G>C
NM_000512.5(GALNS):c.1242+1G>T rs2142993764
NM_000512.5(GALNS):c.1242+20G>C
NM_000512.5(GALNS):c.1242+7G>C
NM_000512.5(GALNS):c.1242+8G>A
NM_000512.5(GALNS):c.1243-10C>G rs886052455
NM_000512.5(GALNS):c.1243-10C>T
NM_000512.5(GALNS):c.1243-17C>A
NM_000512.5(GALNS):c.1243-17C>T
NM_000512.5(GALNS):c.1243-1G>A rs1597535277
NM_000512.5(GALNS):c.1243-1G>C rs1597535277
NM_000512.5(GALNS):c.1243-2A>C rs2142992422
NM_000512.5(GALNS):c.1243-4G>T
NM_000512.5(GALNS):c.1244G>T (p.Gly415Val) rs2142992416
NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser) rs1341980746
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1259del (p.Pro420fs) rs2142992407
NM_000512.5(GALNS):c.125G>A (p.Gly42Glu) rs2143005560
NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg) rs2142992406
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu) rs2142992401
NM_000512.5(GALNS):c.1263G>A (p.Gly421=)
NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys) rs1295162107
NM_000512.5(GALNS):c.1264C>T (p.Gln422Ter) rs1295162107
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
NM_000512.5(GALNS):c.1275del (p.Val427fs) rs2142992383
NM_000512.5(GALNS):c.1278G>A (p.Gly426=)
NM_000512.5(GALNS):c.1279del (p.Val427fs) rs2142992372
NM_000512.5(GALNS):c.1289dup (p.His430fs)
NM_000512.5(GALNS):c.1290_1291del (p.His430fs) rs2142992359
NM_000512.5(GALNS):c.1298_1299insCTTTTCC (p.Glu433fs)
NM_000512.5(GALNS):c.1308G>A (p.Thr436=)
NM_000512.5(GALNS):c.1314G>A (p.Leu438=)
NM_000512.5(GALNS):c.1314G>C (p.Leu438=)
NM_000512.5(GALNS):c.1317C>T (p.Pro439=)
NM_000512.5(GALNS):c.1318_1319del (p.Leu440fs)
NM_000512.5(GALNS):c.131G>T (p.Gly44Val) rs1237852382
NM_000512.5(GALNS):c.1329C>T (p.His443=) rs1411737981
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)
NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu) rs2142992321
NM_000512.5(GALNS):c.1335A>G (p.Gly445=) rs2142992319
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg) rs1910352262
NM_000512.5(GALNS):c.1347G>A (p.Gly449=) rs759760397
NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly) rs2142992313
NM_000512.5(GALNS):c.1349A>T (p.Glu450Val) rs2142992313
NM_000512.5(GALNS):c.134A>G (p.Asp45Gly) rs1967040455
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu) rs398123432
NM_000512.5(GALNS):c.1355dup (p.Leu454fs) rs1472489567
NM_000512.5(GALNS):c.1356C>T (p.Phe452=) rs2142992304
NM_000512.5(GALNS):c.1359C>T (p.Pro453=)
NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro) rs2142992298
NM_000512.5(GALNS):c.1364+11G>A
NM_000512.5(GALNS):c.1364+14G>C rs1400572799
NM_000512.5(GALNS):c.1364+15G>C
NM_000512.5(GALNS):c.1364+17C>T
NM_000512.5(GALNS):c.1364+1G>A rs773746427
NM_000512.5(GALNS):c.1364+2_1364+15del
NM_000512.5(GALNS):c.1364+7C>T
NM_000512.5(GALNS):c.139G>C (p.Gly47Arg) rs199638097
NM_000512.5(GALNS):c.141G>A (p.Gly47=)
NM_000512.5(GALNS):c.142G>A (p.Val48Met) rs1377186614
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000512.5(GALNS):c.143T>G (p.Val48Gly) rs191519947
NM_000512.5(GALNS):c.144G>A (p.Val48=)
NM_000512.5(GALNS):c.147T>C (p.Tyr49=)
NM_000512.5(GALNS):c.1483-12T>C
NM_000512.5(GALNS):c.1483-13T>G
NM_000512.5(GALNS):c.1483-17C>T
NM_000512.5(GALNS):c.1483-19C>T
NM_000512.5(GALNS):c.1483-2A>C
NM_000512.5(GALNS):c.1483-2A>G rs2142967340
NM_000512.5(GALNS):c.1483-9A>G
NM_000512.5(GALNS):c.1487G>C (p.Trp496Ser)
NM_000512.5(GALNS):c.1488G>A (p.Trp496Ter)
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys) rs1355113466
NM_000512.5(GALNS):c.148G>A (p.Gly50Arg) rs2143005530
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1497G>A (p.Pro499=)
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys) rs1303492021
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.1507_1508del (p.Lys503fs) rs753053516
NM_000512.5(GALNS):c.1509G>A (p.Lys503=)
NM_000512.5(GALNS):c.1510T>C (p.Leu504=)
NM_000512.5(GALNS):c.1515del (p.Lys506fs)
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg) rs1567509070
NM_000512.5(GALNS):c.151G>A (p.Glu51Lys) rs1296755011
NM_000512.5(GALNS):c.1522C>T (p.Leu508=)
NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro) rs2142967000
NM_000512.5(GALNS):c.1527A>G (p.Thr509=)
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)
NM_000512.5(GALNS):c.1536A>G (p.Glu512=)
NM_000512.5(GALNS):c.154_165del (p.Pro52_Glu55del) rs2143005515
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe) rs1597515354
NM_000512.5(GALNS):c.1557C>G (p.Leu519=)
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter) rs2142966686
NM_000512.5(GALNS):c.1563C>A (p.Ser521=)
NM_000512.5(GALNS):c.1563C>T (p.Ser521=)
NM_000512.5(GALNS):c.1566C>T (p.His522=)
NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln) rs1348149236
NM_000512.5(GALNS):c.1567T>G (p.Ter523Glu) rs1348149236
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp) rs2142966615
NM_000512.5(GALNS):c.156C>G (p.Pro52=)
NM_000512.5(GALNS):c.158C>T (p.Ser53Phe) rs1421990673
NM_000512.5(GALNS):c.159C>T (p.Ser53=)
NM_000512.5(GALNS):c.168C>A (p.Thr56=)
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)
NM_000512.5(GALNS):c.171G>A (p.Pro57=)
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
NM_000512.5(GALNS):c.181C>G (p.Arg61Gly) rs145798311
NM_000512.5(GALNS):c.185T>G (p.Met62Arg)
NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)
NM_000512.5(GALNS):c.190_191delinsAT (p.Ala64Ile) rs2143005495
NM_000512.5(GALNS):c.192A>C (p.Ala64=)
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg) rs1967035346
NM_000512.5(GALNS):c.205T>G (p.Phe69Val) rs118204445
NM_000512.5(GALNS):c.210A>G (p.Pro70=)
NM_000512.5(GALNS):c.210_221del (p.Asn71_Ser74del) rs2143005478
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
NM_000512.5(GALNS):c.218A>G (p.Tyr73Cys) rs398123435
NM_000512.5(GALNS):c.221C>T (p.Ser74Phe) rs2143005475
NM_000512.5(GALNS):c.224C>G (p.Ala75Gly) rs2143005473
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys) rs147599478
NM_000512.5(GALNS):c.228C>G (p.Asn76Lys) rs147599478
NM_000512.5(GALNS):c.229C>T (p.Pro77Ser) rs201278722
NM_000512.5(GALNS):c.230C>G (p.Pro77Arg) rs1422505598
NM_000512.5(GALNS):c.230C>T (p.Pro77Leu)
NM_000512.5(GALNS):c.234G>A (p.Leu78=)
NM_000512.5(GALNS):c.235_236del (p.Cys79fs) rs2143005467
NM_000512.5(GALNS):c.236G>A (p.Cys79Tyr) rs1263679818
NM_000512.5(GALNS):c.239C>G (p.Ser80Trp) rs1209154325
NM_000512.5(GALNS):c.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.240G>T (p.Ser80=)
NM_000512.5(GALNS):c.242C>T (p.Pro81Leu) rs2143005457
NM_000512.5(GALNS):c.244+10C>T
NM_000512.5(GALNS):c.244+11G>A
NM_000512.5(GALNS):c.244+14G>T
NM_000512.5(GALNS):c.244+14del
NM_000512.5(GALNS):c.244+17C>T
NM_000512.5(GALNS):c.244+1G>T rs2143005452
NM_000512.5(GALNS):c.244+8A>G
NM_000512.5(GALNS):c.244+9G>C
NM_000512.5(GALNS):c.245-10C>G
NM_000512.5(GALNS):c.245-11C>G rs552476248
NM_000512.5(GALNS):c.245-13C>T
NM_000512.5(GALNS):c.245-15G>A
NM_000512.5(GALNS):c.245-15G>C
NM_000512.5(GALNS):c.245-17C>T
NM_000512.5(GALNS):c.245-25TTCTGT[3]
NM_000512.5(GALNS):c.245-2A>G rs1352162269
NM_000512.5(GALNS):c.245-4A>G
NM_000512.5(GALNS):c.245-5C>T
NM_000512.5(GALNS):c.245-7C>T
NM_000512.5(GALNS):c.246G>A (p.Ser82=)
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
NM_000512.5(GALNS):c.252G>C (p.Ala84=)
NM_000512.5(GALNS):c.253G>A (p.Ala85Thr) rs2143005122
NM_000512.5(GALNS):c.257T>C (p.Leu86Pro) rs2143005116
NM_000512.5(GALNS):c.258G>A (p.Leu86=)
NM_000512.5(GALNS):c.260T>C (p.Leu87Pro) rs1418948853
NM_000512.5(GALNS):c.263C>T (p.Thr88Ile) rs2143005111
NM_000512.5(GALNS):c.265G>T (p.Gly89Ter) rs1160480473
NM_000512.5(GALNS):c.267A>C (p.Gly89=)
NM_000512.5(GALNS):c.268C>G (p.Arg90Gly) rs1028668536
NM_000512.5(GALNS):c.272T>C (p.Leu91Pro) rs2143005099
NM_000512.5(GALNS):c.274C>T (p.Pro92Ser) rs2143005097
NM_000512.5(GALNS):c.278T>C (p.Ile93Thr) rs1966993165
NM_000512.5(GALNS):c.280C>G (p.Arg94Gly) rs118204441
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu) rs727503946
NM_000512.5(GALNS):c.285dup (p.Gly96fs)
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.287G>T (p.Gly96Val) rs1966992597
NM_000512.5(GALNS):c.288C>G (p.Gly96=)
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.294C>A (p.Tyr98Ter)
NM_000512.5(GALNS):c.296C>T (p.Thr99Ile) rs2143005081
NM_000512.5(GALNS):c.298A>C (p.Thr100Pro) rs1597581827
NM_000512.5(GALNS):c.306C>T (p.Ala102=)
NM_000512.5(GALNS):c.309T>C (p.His103=)
NM_000512.5(GALNS):c.312C>G (p.Ala104=) rs1293637427
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.317A>G (p.Asn106Ser) rs2143005070
NM_000512.5(GALNS):c.319+10_319+11dup
NM_000512.5(GALNS):c.319+14C>T
NM_000512.5(GALNS):c.319+15G>A
NM_000512.5(GALNS):c.319+15G>T rs777179922
NM_000512.5(GALNS):c.319+16C>T
NM_000512.5(GALNS):c.319+2T>C rs2143005067
NM_000512.5(GALNS):c.319G>C (p.Ala107Pro) rs763184657
NM_000512.5(GALNS):c.319G>T (p.Ala107Ser) rs763184657
NM_000512.5(GALNS):c.320-14C>T
NM_000512.5(GALNS):c.320-18C>T
NM_000512.5(GALNS):c.320-1G>C rs1245504167
NM_000512.5(GALNS):c.320-7C>T
NM_000512.5(GALNS):c.320-9C>T
NM_000512.5(GALNS):c.323A>G (p.Tyr108Cys) rs1256041500
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile) rs2143004681
NM_000512.5(GALNS):c.330G>T (p.Pro110=)
NM_000512.5(GALNS):c.332A>G (p.Gln111Arg) rs2143004671
NM_000512.5(GALNS):c.334del (p.Glu112fs) rs2143004665
NM_000512.5(GALNS):c.337A>G (p.Ile113Val)
NM_000512.5(GALNS):c.339T>C (p.Ile113=)
NM_000512.5(GALNS):c.345C>T (p.Gly115=)
NM_000512.5(GALNS):c.346G>A (p.Gly116Ser) rs1444754604
NM_000512.5(GALNS):c.347G>T (p.Gly116Val) rs1966945369
NM_000512.5(GALNS):c.348C>T (p.Gly116=)
NM_000512.5(GALNS):c.363G>A (p.Glu121=)
NM_000512.5(GALNS):c.363G>C (p.Glu121Asp) rs780986116
NM_000512.5(GALNS):c.364C>T (p.Gln122Ter)
NM_000512.5(GALNS):c.370C>T (p.Leu124=)
NM_000512.5(GALNS):c.373C>T (p.Pro125Ser)
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.374C>T (p.Pro125Leu) rs746949976
NM_000512.5(GALNS):c.374del (p.Pro125fs)
NM_000512.5(GALNS):c.375G>A (p.Pro125=)
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln) rs1177468816
NM_000512.5(GALNS):c.378G>A (p.Glu126=)
NM_000512.5(GALNS):c.384G>A (p.Leu128=)
NM_000512.5(GALNS):c.385A>T (p.Lys129Ter) rs2143004624
NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)
NM_000512.5(GALNS):c.387G>A (p.Lys129=)
NM_000512.5(GALNS):c.398A>C (p.Tyr133Ser) rs1379268067
NM_000512.5(GALNS):c.400G>A (p.Val134Ile) rs886052457
NM_000512.5(GALNS):c.405C>G (p.Ser135Arg) rs2143004605
NM_000512.5(GALNS):c.405_422+1del rs398123437
NM_000512.5(GALNS):c.409_420del (p.Ile137_Lys140del) rs2143004592
NM_000512.5(GALNS):c.409_422+5del rs2143004580
NM_000512.5(GALNS):c.411T>C (p.Ile137=)
NM_000512.5(GALNS):c.414C>G (p.Val138=)
NM_000512.5(GALNS):c.414C>T (p.Val138=)
NM_000512.5(GALNS):c.416G>A (p.Gly139Asp) rs2143004596
NM_000512.5(GALNS):c.417C>G (p.Gly139=)
NM_000512.5(GALNS):c.420G>A (p.Lys140=)
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.422+10C>T
NM_000512.5(GALNS):c.422+14C>T
NM_000512.5(GALNS):c.422+18G>A
NM_000512.5(GALNS):c.422+19C>G
NM_000512.5(GALNS):c.422+1G>A rs1966940003
NM_000512.5(GALNS):c.422+1G>T rs1966940003
NM_000512.5(GALNS):c.422+20C>T
NM_000512.5(GALNS):c.422+2T>G rs2143004585
NM_000512.5(GALNS):c.422+2_422+8del rs764529662
NM_000512.5(GALNS):c.422+2dup rs2143004586
NM_000512.5(GALNS):c.422+9C>G
NM_000512.5(GALNS):c.423-11_425del
NM_000512.5(GALNS):c.423-14G>A
NM_000512.5(GALNS):c.423-15G>C
NM_000512.5(GALNS):c.423-16G>A
NM_000512.5(GALNS):c.423-1G>A rs2143002474
NM_000512.5(GALNS):c.423-20T>C
NM_000512.5(GALNS):c.423-4C>T
NM_000512.5(GALNS):c.423-5del
NM_000512.5(GALNS):c.423-862C>T rs1597575641
NM_000512.5(GALNS):c.423-8G>A
NM_000512.5(GALNS):c.423-8G>C rs111613055
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys) rs2143002473
NM_000512.5(GALNS):c.424C>A (p.His142Asn) rs2143002472
NM_000512.5(GALNS):c.424_566+1del rs2143002309
NM_000512.5(GALNS):c.425A>C (p.His142Pro) rs1288895691
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.425A>T (p.His142Leu) rs1288895691
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.433C>T (p.His145Tyr) rs577334837
NM_000512.5(GALNS):c.442C>T (p.Gln148Ter) rs2143002464
NM_000512.5(GALNS):c.444_449del (p.Gln148_Phe149del) rs2143002451
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys) rs2143002458
NM_000512.5(GALNS):c.447C>T (p.Phe149=)
NM_000512.5(GALNS):c.448C>T (p.His150Tyr) rs1168278189
NM_000512.5(GALNS):c.450C>T (p.His150=)
NM_000512.5(GALNS):c.451C>T (p.Pro151Ser) rs781439830
NM_000512.5(GALNS):c.452C>G (p.Pro151Arg) rs559063128
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
NM_000512.5(GALNS):c.462C>T (p.His154=)
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.465A>G (p.Gly155=)
NM_000512.5(GALNS):c.467T>C (p.Phe156Ser) rs1301146300
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.471T>C (p.Asp157=)
NM_000512.5(GALNS):c.472G>T (p.Glu158Ter) rs2143002428
NM_000512.5(GALNS):c.473_477del (p.Glu158fs) rs2143002427
NM_000512.5(GALNS):c.477G>T (p.Trp159Cys) rs398123439
NM_000512.5(GALNS):c.480T>C (p.Phe160=)
NM_000512.5(GALNS):c.482G>A (p.Gly161Glu) rs2143002420
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)
NM_000512.5(GALNS):c.488C>A (p.Pro163His) rs2143002411
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)
NM_000512.5(GALNS):c.489del (p.Asn164fs) rs1328983959
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser) rs761725425
NM_000512.5(GALNS):c.493_531del (p.Cys165_Asn177del)
NM_000512.5(GALNS):c.494G>A (p.Cys165Tyr) rs768757999
NM_000512.5(GALNS):c.497A>G (p.His166Arg) rs2143002394
NM_000512.5(GALNS):c.498C>G (p.His166Gln) rs1301198698
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.501dup (p.Gly168fs) rs2143002383
NM_000512.5(GALNS):c.502G>T (p.Gly168Ter) rs775732598
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu) rs2143002376
NM_000512.5(GALNS):c.503G>T (p.Gly168Val) rs2143002375
NM_000512.5(GALNS):c.508T>C (p.Tyr170His) rs2143002372
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)
NM_000512.5(GALNS):c.512A>C (p.Asp171Ala) rs2143002367
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
NM_000512.5(GALNS):c.519G>A (p.Lys173=)
NM_000512.5(GALNS):c.529A>C (p.Asn177His) rs2143002349
NM_000512.5(GALNS):c.530A>G (p.Asn177Ser) rs2143002347
NM_000512.5(GALNS):c.532_533del (p.Ile178fs) rs2143002345
NM_000512.5(GALNS):c.535C>T (p.Pro179Ser) rs2143002341
NM_000512.5(GALNS):c.536C>A (p.Pro179His) rs1912278519
NM_000512.5(GALNS):c.536C>T (p.Pro179Leu) rs1912278519
NM_000512.5(GALNS):c.540G>A (p.Val180=)
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.544A>C (p.Arg182=)
NM_000512.5(GALNS):c.546G>A (p.Arg182=)
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.552G>A (p.Trp184Ter)
NM_000512.5(GALNS):c.554A>G (p.Glu185Gly) rs2143002324
NM_000512.5(GALNS):c.554del (p.Glu185fs) rs2143002326
NM_000512.5(GALNS):c.555G>A (p.Glu185=)
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.563G>A (p.Gly188Asp) rs2143002315
NM_000512.5(GALNS):c.566+11C>T
NM_000512.5(GALNS):c.566+12C>T
NM_000512.5(GALNS):c.566+13C>T
NM_000512.5(GALNS):c.566+16C>G
NM_000512.5(GALNS):c.566+16C>T
NM_000512.5(GALNS):c.566+17C>T
NM_000512.5(GALNS):c.566+1G>A
NM_000512.5(GALNS):c.566+6G>A rs1912274502
NM_000512.5(GALNS):c.566+9G>A
NM_000512.5(GALNS):c.567-13G>A
NM_000512.5(GALNS):c.567-14T>C
NM_000512.5(GALNS):c.567-14T>G
NM_000512.5(GALNS):c.567-15C>T
NM_000512.5(GALNS):c.567-17A>G
NM_000512.5(GALNS):c.567-1G>T rs143428106
NM_000512.5(GALNS):c.569A>G (p.Tyr190Cys) rs886042058
NM_000512.5(GALNS):c.570T>G (p.Tyr190Ter)
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys) rs2143001742
NM_000512.5(GALNS):c.573T>C (p.Tyr191=)
NM_000512.5(GALNS):c.579A>G (p.Glu193=)
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn) rs759502513
NM_000512.5(GALNS):c.592C>T (p.Leu198=)
NM_000512.5(GALNS):c.597G>A (p.Lys199=) rs1293689169
NM_000512.5(GALNS):c.600G>A (p.Thr200=)
NM_000512.5(GALNS):c.600G>T (p.Thr200=)
NM_000512.5(GALNS):c.601G>A (p.Gly201Arg)
NM_000512.5(GALNS):c.604del (p.Glu202fs) rs1382823339
NM_000512.5(GALNS):c.608C>T (p.Ala203Val) rs2143001722
NM_000512.5(GALNS):c.609C>A (p.Ala203=)
NM_000512.5(GALNS):c.609C>T (p.Ala203=)
NM_000512.5(GALNS):c.611A>C (p.Asn204Thr) rs569725936
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
NM_000512.5(GALNS):c.612C>G (p.Asn204Lys) rs118204435
NM_000512.5(GALNS):c.612C>T (p.Asn204=)
NM_000512.5(GALNS):c.615C>A (p.Leu205=)
NM_000512.5(GALNS):c.618C>T (p.Thr206=)
NM_000512.5(GALNS):c.627C>G (p.Tyr209Ter) rs2143001706
NM_000512.5(GALNS):c.631C>T (p.Gln211Ter) rs1912124497
NM_000512.5(GALNS):c.633+13G>A
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.633+13G>T
NM_000512.5(GALNS):c.633+13dup
NM_000512.5(GALNS):c.633+15A>G
NM_000512.5(GALNS):c.633+16C>T
NM_000512.5(GALNS):c.633+9del
NM_000512.5(GALNS):c.634-14G>T
NM_000512.5(GALNS):c.634-1G>A rs2143001463
NM_000512.5(GALNS):c.634-1G>T rs2143001463
NM_000512.5(GALNS):c.634-5C>G rs1354095513
NM_000512.5(GALNS):c.639C>T (p.Ala213=)
NM_000512.5(GALNS):c.641T>G (p.Leu214Arg)
NM_000512.5(GALNS):c.648C>G (p.Phe216Leu) rs2143001453
NM_000512.5(GALNS):c.654G>A (p.Lys218=)
NM_000512.5(GALNS):c.657A>G (p.Arg219=)
NM_000512.5(GALNS):c.658C>T (p.Gln220Ter) rs1456807949
NM_000512.5(GALNS):c.666G>A (p.Arg222=)
NM_000512.5(GALNS):c.672C>T (p.His224=)
NM_000512.5(GALNS):c.675_676del (p.Phe227fs) rs2143001422
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
NM_000512.5(GALNS):c.676T>C (p.Phe226Leu) rs1375452799
NM_000512.5(GALNS):c.678T>C (p.Phe226=)
NM_000512.5(GALNS):c.679T>G (p.Phe227Val) rs2143001417
NM_000512.5(GALNS):c.680del (p.Phe227fs) rs2143001415
NM_000512.5(GALNS):c.684C>T (p.Leu228=)
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser) rs554190546
NM_000512.5(GALNS):c.688T>G (p.Trp230Gly) rs2143001411
NM_000512.5(GALNS):c.689G>A (p.Trp230Ter) rs118204449
NM_000512.5(GALNS):c.690G>T (p.Trp230Cys) rs2143001410
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
NM_000512.5(GALNS):c.693T>C (p.Ala231=)
NM_000512.5(GALNS):c.696C>T (p.Val232=)
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.700G>T (p.Ala234Ser)
NM_000512.5(GALNS):c.702C>T (p.Ala234=)
NM_000512.5(GALNS):c.704C>A (p.Thr235Lys) rs398123440
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)
NM_000512.5(GALNS):c.705G>A (p.Thr235=)
NM_000512.5(GALNS):c.705G>T (p.Thr235=)
NM_000512.5(GALNS):c.706C>G (p.His236Asp) rs1228027865
NM_000512.5(GALNS):c.707A>C (p.His236Pro) rs398123441
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)
NM_000512.5(GALNS):c.708del (p.His236fs) rs2143001400
NM_000512.5(GALNS):c.711_714dup (p.Val239fs) rs2143001391
NM_000512.5(GALNS):c.714C>G (p.Pro238=)
NM_000512.5(GALNS):c.714C>T (p.Pro238=)
NM_000512.5(GALNS):c.715G>T (p.Val239Phe) rs145131011
NM_000512.5(GALNS):c.716T>G (p.Val239Gly)
NM_000512.5(GALNS):c.717C>A (p.Val239=)
NM_000512.5(GALNS):c.722C>A (p.Ala241Asp) rs2143001386
NM_000512.5(GALNS):c.723C>G (p.Ala241=)
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys) rs2143001380
NM_000512.5(GALNS):c.732C>G (p.Pro244=)
NM_000512.5(GALNS):c.744C>G (p.Thr248=)
NM_000512.5(GALNS):c.751C>T (p.Arg251Ter) rs1275386976
NM_000512.5(GALNS):c.753A>T (p.Arg251=)
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)
NM_000512.5(GALNS):c.758+12C>A
NM_000512.5(GALNS):c.758+15C>T
NM_000512.5(GALNS):c.758+17T>C
NM_000512.5(GALNS):c.758+1G>A rs1363382746
NM_000512.5(GALNS):c.758+1G>C rs1363382746
NM_000512.5(GALNS):c.758+3G>A
NM_000512.5(GALNS):c.758+4A>T rs2143001351
NM_000512.5(GALNS):c.758+7C>T
NM_000512.5(GALNS):c.759-15G>C
NM_000512.5(GALNS):c.759-16del
NM_000512.5(GALNS):c.759-2A>G rs2143001213
NM_000512.5(GALNS):c.759-7C>A
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210
NM_000512.5(GALNS):c.762T>A (p.Tyr254Ter) rs770815269
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)
NM_000512.5(GALNS):c.764G>C (p.Gly255Ala) rs1912009292
NM_000512.5(GALNS):c.768C>T (p.Asp256=)
NM_000512.5(GALNS):c.775C>G (p.Arg259Gly) rs61742258
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.777G>A (p.Arg259=)
NM_000512.5(GALNS):c.778G>A (p.Glu260Lys) rs2143001194
NM_000512.5(GALNS):c.779A>T (p.Glu260Val)
NM_000512.5(GALNS):c.780G>C (p.Glu260Asp) rs2143001191
NM_000512.5(GALNS):c.786T>C (p.Asp262=)
NM_000512.5(GALNS):c.791G>A (p.Ser264Asn) rs2143001182
NM_000512.5(GALNS):c.791G>C (p.Ser264Thr) rs2143001182
NM_000512.5(GALNS):c.812T>C (p.Leu271Pro) rs1912001607
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter) rs2143001165
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.828C>G (p.His276Gln) rs759216815
NM_000512.5(GALNS):c.831C>T (p.Val277=)
NM_000512.5(GALNS):c.834G>A (p.Ala278=)
NM_000512.5(GALNS):c.835del (p.Asp279fs)
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.841_867del (p.Thr281_Asn289del) rs1567530426
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
NM_000512.5(GALNS):c.850TTC[1] (p.Phe285del) rs768664270
NM_000512.5(GALNS):c.851T>G (p.Phe284Cys)
NM_000512.5(GALNS):c.861G>A (p.Ser287=)
NM_000512.5(GALNS):c.863A>G (p.Asp288Gly) rs2143001134
NM_000512.5(GALNS):c.863del (p.Asp288fs) rs2143001135
NM_000512.5(GALNS):c.865A>C (p.Asn289His) rs1314520034
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp) rs1314520034
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.867C>T (p.Asn289=)
NM_000512.5(GALNS):c.868G>C (p.Gly290Arg) rs975409254
NM_000512.5(GALNS):c.869G>A (p.Gly290Asp) rs1214775986
NM_000512.5(GALNS):c.870C>T (p.Gly290=)
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.872C>A (p.Ala291Asp) rs2143001123
NM_000512.5(GALNS):c.874del (p.Ala292fs) rs2143001121
NM_000512.5(GALNS):c.882T>A (p.Ile294=)
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)
NM_000512.5(GALNS):c.888C>T (p.Ala296=)
NM_000512.5(GALNS):c.891C>T (p.Pro297=)
NM_000512.5(GALNS):c.892G>T (p.Glu298Ter) rs767319971
NM_000512.5(GALNS):c.892del (p.Glu298fs)
NM_000512.5(GALNS):c.895C>T (p.Gln299Ter) rs2143001103
NM_000512.5(GALNS):c.898+11G>A
NM_000512.5(GALNS):c.898+12C>A
NM_000512.5(GALNS):c.898+13T>C
NM_000512.5(GALNS):c.898+2T>A
NM_000512.5(GALNS):c.898+7G>A
NM_000512.5(GALNS):c.898+8C>T
NM_000512.5(GALNS):c.899-12C>T
NM_000512.5(GALNS):c.899-14C>A rs771269427
NM_000512.5(GALNS):c.899-167A>G rs2142999330
NM_000512.5(GALNS):c.899-169_899-166del
NM_000512.5(GALNS):c.899-19A>T
NM_000512.5(GALNS):c.899-20C>T
NM_000512.5(GALNS):c.899-2A>C rs1165218506
NM_000512.5(GALNS):c.899-2A>G rs1165218506
NM_000512.5(GALNS):c.899-397_1003-1862del
NM_000512.5(GALNS):c.899-5C>T
NM_000512.5(GALNS):c.899-9C>G
NM_000512.5(GALNS):c.899G>T (p.Gly300Val) rs780778562
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp) rs776715466
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys) rs751446283
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp) rs758439379
NM_000512.5(GALNS):c.912C>T (p.Gly304=)
NM_000512.5(GALNS):c.916T>G (p.Phe306Val) rs2142999207
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser) rs759590432
NM_000512.5(GALNS):c.919C>A (p.Leu307Met) rs2142999203
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.922T>C (p.Cys308Arg) rs2142999197
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp) rs1567526988
NM_000512.5(GALNS):c.925G>A (p.Gly309Arg) rs2142999191
NM_000512.5(GALNS):c.927G>A (p.Gly309=)
NM_000512.5(GALNS):c.930G>A (p.Lys310=)
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.934A>G (p.Thr312Ala) rs2142999186
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.937A>G (p.Thr313Ala) rs2142999184
NM_000512.5(GALNS):c.939G>A (p.Thr313=)
NM_000512.5(GALNS):c.940T>G (p.Phe314Val) rs774781295
NM_000512.5(GALNS):c.943G>A (p.Glu315Lys) rs2142999177
NM_000512.5(GALNS):c.943G>C (p.Glu315Gln) rs2142999177
NM_000512.5(GALNS):c.947G>T (p.Gly316Val) rs1057518404
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000512.5(GALNS):c.950G>A (p.Gly317Glu) rs2142999169
NM_000512.5(GALNS):c.951dup (p.Met318fs) rs2142999166
NM_000512.5(GALNS):c.952A>G (p.Met318Val) rs537013895
NM_000512.5(GALNS):c.956G>C (p.Arg319Thr) rs377744312
NM_000512.5(GALNS):c.958G>A (p.Glu320Lys) rs2142999156
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp) rs1213435795
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500
NM_000512.5(GALNS):c.969C>G (p.Leu323=)
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser) rs569725890
NM_000512.5(GALNS):c.971C>A (p.Ala324Glu) rs2142999148
NM_000512.5(GALNS):c.972A>G (p.Ala324=)
NM_000512.5(GALNS):c.973TGG[1] (p.Trp326del) rs2142999135
NM_000512.5(GALNS):c.974G>A (p.Trp325Ter) rs2142999142
NM_000512.5(GALNS):c.975G>T (p.Trp325Cys) rs1269110043
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)
NM_000512.5(GALNS):c.977G>C (p.Trp326Ser) rs2142999137
NM_000512.5(GALNS):c.978G>A (p.Trp326Ter) rs1911558912
NM_000512.5(GALNS):c.984G>A (p.Gly328=)
NM_000512.5(GALNS):c.985C>A (p.His329Asn) rs766548318
NM_000512.5(GALNS):c.[1097T>C;451C>A]
NM_000512.5(GALNS):c.[1140-730_1365-1530del;121-2779_567-248del]
NM_000512.5:c.(120+1_121-1)_(244+1_245-1)del
NM_000512.5:c.(1242+1_1243-1)_(1364+1_1365-1)del
NM_000512.5:c.(1364+1_1365-1)_(1482+1_1483-1)del
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)del
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)dup
NM_000512.5:c.567_1002dup
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.