ClinVar Miner

List of variants studied for Mucopolysaccharidosis, MPS-IV-A by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 753
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
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.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.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.1376C>T (p.Ala459Val) rs114703967 0.03559
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.1413C>T (p.Val471=) rs73251084 0.01159
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.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.1003-42C>T rs139088253 0.00674
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
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.1462G>A (p.Val488Met) rs78127134 0.00140
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.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.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.121-4G>A rs200008960 0.00030
NM_000512.5(GALNS):c.412G>A (p.Val138Ile) rs140018158 0.00029
NM_000512.5(GALNS):c.1482+4A>G rs377407678 0.00026
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.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.899-6T>C rs374850312 0.00014
NM_000512.5(GALNS):c.1414G>A (p.Val472Ile) rs147290567 0.00013
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.1375G>A (p.Ala459Thr) rs750739641 0.00009
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.120+14G>A rs368397682 0.00007
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.39G>A (p.Leu13=) rs767326423 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.1559G>A (p.Trp520Ter) rs372893383 0.00005
NM_000512.5(GALNS):c.833C>T (p.Ala278Val) rs141544939 0.00005
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.1409C>T (p.Ser470Leu) rs760260706 0.00004
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val) rs141171091 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.24G>A (p.Thr8=) rs904615956 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.107T>G (p.Leu36Arg) rs755832705 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.1365-20C>T rs1044328485 0.00003
NM_000512.5(GALNS):c.1374C>T (p.Ser458=) rs534204869 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.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.1005G>C (p.Val335=) rs772871566 0.00002
NM_000512.5(GALNS):c.102G>A (p.Leu34=) rs748866414 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.1476G>A (p.Ala492=) rs371056948 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.47T>G (p.Val16Gly) rs794729202 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.664C>T (p.Arg222Trp) rs146963745 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.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.1062C>T (p.Gly354=) rs1910972322 0.00001
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met) rs1017572961 0.00001
NM_000512.5(GALNS):c.106C>T (p.Leu36=) rs779849307 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.118G>C (p.Asp40His) rs1967935603 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.1377C>T (p.Ala459=) rs757704061 0.00001
NM_000512.5(GALNS):c.139G>A (p.Gly47Arg) rs199638097 0.00001
NM_000512.5(GALNS):c.13G>A (p.Val5Ile) rs1415400985 0.00001
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser) rs781512359 0.00001
NM_000512.5(GALNS):c.1461C>T (p.Asn487=) rs1273463889 0.00001
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg) rs753344649 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 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.1A>T (p.Met1Leu) rs771531650 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.251C>T (p.Ala84Val) rs141340188 0.00001
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp) rs1028668536 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.394G>A (p.Gly132Ser) rs766859208 0.00001
NM_000512.5(GALNS):c.399C>T (p.Tyr133=) rs761206910 0.00001
NM_000512.5(GALNS):c.422+17C>T rs748212930 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.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.66G>T (p.Met22Ile) rs1427287935 0.00001
NM_000512.5(GALNS):c.697G>A (p.Asp233Asn) rs753051547 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.764G>A (p.Gly255Glu) rs1912009292 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.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.(?_88814419)_(88856897_?)del
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.(?_88856738)_(88856897_?)del
NC_000016.10:g.88832102del rs2142999219
NC_000016.10:g.88856801_88856960del
NC_000016.9:g.(?_88798723)_(88909257_?)dup
NC_000016.9:g.(?_88851289)_(88909257_?)del
NC_000016.9:g.(?_88880847)_(88880953_?)del
NC_000016.9:g.(?_88880847)_(88884552_?)del
NC_000016.9:g.(?_88880847)_(88893266_?)del
NC_000016.9:g.(?_88880847)_(88898529_?)del
NC_000016.9:g.(?_88884395)_(88884552_?)del
NC_000016.9:g.(?_88884395)_(88909257_?)del
NC_000016.9:g.(?_88888977)_(88898676_?)del
NC_000016.9:g.(?_88893090)_(88904193_?)del
NC_000016.9:g.(?_88898386)_(88909257_?)del
NC_000016.9:g.(?_88901601)_(88923285_?)del
NC_000016.9:g.(?_88907380)_(88923285_?)del
NC_000016.9:g.(?_88908285)_(88908399_?)dup
NC_000016.9:g.(?_88908285)_(88909257_?)del
NC_000016.9:g.(?_88923146)_(88923285_?)del
NM_000512.5(GALNS):c.-2_13del (p.Met1_Val5del)
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+4A>T
NM_000512.5(GALNS):c.1002+7C>G
NM_000512.5(GALNS):c.1002+8A>G
NM_000512.5(GALNS):c.1003-16C>T
NM_000512.5(GALNS):c.1003-3C>G rs760239741
NM_000512.5(GALNS):c.100C>G (p.Leu34Val) rs1352806619
NM_000512.5(GALNS):c.100C>T (p.Leu34=)
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del) rs794726887
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.1023C>A (p.Ser341Arg)
NM_000512.5(GALNS):c.102G>C (p.Leu34=)
NM_000512.5(GALNS):c.102G>T (p.Leu34=)
NM_000512.5(GALNS):c.1035C>T (p.Leu345=)
NM_000512.5(GALNS):c.1038C>T (p.Phe346=)
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>T (p.Ala353Val) rs774113183
NM_000512.5(GALNS):c.105C>A (p.Leu35=)
NM_000512.5(GALNS):c.105C>G (p.Leu35=)
NM_000512.5(GALNS):c.1068G>A (p.Thr356=)
NM_000512.5(GALNS):c.1071G>T (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1077C>T (p.Ser359=)
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.1095C>T (p.Gly365=)
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.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.1119G>C (p.Leu373=)
NM_000512.5(GALNS):c.111C>T (p.Leu37=)
NM_000512.5(GALNS):c.1122G>A (p.Gln374=)
NM_000512.5(GALNS):c.112A>C (p.Met38Leu) rs1306083557
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.1139G>A (p.Arg380Lys)
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.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.115G>T (p.Asp39Tyr) rs2143013504
NM_000512.5(GALNS):c.115_116del (p.Asp39fs) rs1967936031
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.1169T>C (p.Leu390Pro) rs2142993863
NM_000512.5(GALNS):c.116A>G (p.Asp39Gly) rs1967935882
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.1183C>G (p.Leu395Val) rs767701478
NM_000512.5(GALNS):c.1185C>T (p.Leu395=)
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
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.120+12C>G
NM_000512.5(GALNS):c.120+12C>T
NM_000512.5(GALNS):c.120+13G>A
NM_000512.5(GALNS):c.120+13G>C
NM_000512.5(GALNS):c.120+13G>T
NM_000512.5(GALNS):c.120+19A>C
NM_000512.5(GALNS):c.120+19_120+29del
NM_000512.5(GALNS):c.120+1G>A rs911877265
NM_000512.5(GALNS):c.120+1G>C rs911877265
NM_000512.5(GALNS):c.120+20C>T
NM_000512.5(GALNS):c.120+4A>G rs1213209894
NM_000512.5(GALNS):c.120+8C>G
NM_000512.5(GALNS):c.120+9G>T
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.121-10T>C
NM_000512.5(GALNS):c.121-12T>C
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>T rs1312522259
NM_000512.5(GALNS):c.121-20C>T
NM_000512.5(GALNS):c.121-2A>G rs1567538216
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.1210A>C (p.Thr404Pro) rs2142993800
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>T
NM_000512.5(GALNS):c.1243-17C>A
NM_000512.5(GALNS):c.1243-17C>T
NM_000512.5(GALNS):c.1243-4G>T
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
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>T (p.Gln422Ter) rs1295162107
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
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.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.1329C>T (p.His443=) rs1411737981
NM_000512.5(GALNS):c.1333G>T (p.Gly445Ter)
NM_000512.5(GALNS):c.1335A>G (p.Gly445=) rs2142992319
NM_000512.5(GALNS):c.1339G>A (p.Asp447Asn)
NM_000512.5(GALNS):c.1347G>A (p.Gly449=) rs759760397
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile) rs398123432
NM_000512.5(GALNS):c.1356C>T (p.Phe452=) rs2142992304
NM_000512.5(GALNS):c.1359C>T (p.Pro453=)
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.1365-10C>T
NM_000512.5(GALNS):c.1365-14CT[2]
NM_000512.5(GALNS):c.1365-17G>C
NM_000512.5(GALNS):c.1365-19C>T
NM_000512.5(GALNS):c.1365-1G>C rs1909832718
NM_000512.5(GALNS):c.1365-20C>G
NM_000512.5(GALNS):c.1365-2A>G
NM_000512.5(GALNS):c.1365-4C>G rs558654277
NM_000512.5(GALNS):c.1365-9T>C
NM_000512.5(GALNS):c.1392C>A (p.Ala464=)
NM_000512.5(GALNS):c.1398C>T (p.Ser466=)
NM_000512.5(GALNS):c.1401_1422dup (p.His475fs)
NM_000512.5(GALNS):c.1407C>G (p.Thr469=)
NM_000512.5(GALNS):c.1410G>A (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.1410G>C (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.1410G>T (p.Ser470=) rs763263800
NM_000512.5(GALNS):c.1417C>T (p.Gln473Ter) rs118204439
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg) rs1909825123
NM_000512.5(GALNS):c.141G>A (p.Gly47=)
NM_000512.5(GALNS):c.1422G>A (p.Gln474=)
NM_000512.5(GALNS):c.1423C>A (p.His475Asn) rs749297663
NM_000512.5(GALNS):c.1434C>T (p.Ala478=)
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.1440C>T (p.Val480=)
NM_000512.5(GALNS):c.1446G>A (p.Ala482=)
NM_000512.5(GALNS):c.144G>A (p.Val48=)
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1458C>T (p.Leu486=)
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser) rs118204440
NM_000512.5(GALNS):c.1464G>A (p.Val488=)
NM_000512.5(GALNS):c.1467C>T (p.Cys489=)
NM_000512.5(GALNS):c.1473G>A (p.Trp491Ter)
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.147T>C (p.Tyr49=)
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr) rs2142982062
NM_000512.5(GALNS):c.1482+2T>C
NM_000512.5(GALNS):c.1482+5G>C
NM_000512.5(GALNS):c.1482+9C>T
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.1483-9A>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.1497G>A (p.Pro499=)
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys) rs1303492021
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.1522C>T (p.Leu508=)
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.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.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>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.159C>T (p.Ser53=)
NM_000512.5(GALNS):c.15C>A (p.Val5=)
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.18G>T (p.Ala6=)
NM_000512.5(GALNS):c.192A>C (p.Ala64=)
NM_000512.5(GALNS):c.210A>G (p.Pro70=)
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.21G>A (p.Ala7=)
NM_000512.5(GALNS):c.21G>C (p.Ala7=)
NM_000512.5(GALNS):c.228C>A (p.Asn76Lys) rs147599478
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.239C>T (p.Ser80Leu) rs1209154325
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg) rs2143013653
NM_000512.5(GALNS):c.240G>T (p.Ser80=)
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+8A>G
NM_000512.5(GALNS):c.244+9G>C
NM_000512.5(GALNS):c.245-10C>G
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.24G>C (p.Thr8=)
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu) rs141340188
NM_000512.5(GALNS):c.252G>C (p.Ala84=)
NM_000512.5(GALNS):c.258G>A (p.Leu86=)
NM_000512.5(GALNS):c.267A>C (p.Gly89=)
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
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.2T>C (p.Met1Thr)
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.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.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.330G>T (p.Pro110=)
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.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.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.387G>A (p.Lys129=)
NM_000512.5(GALNS):c.405_422+1del rs398123437
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.417C>G (p.Gly139=)
NM_000512.5(GALNS):c.420G>A (p.Lys140=)
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>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+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.423-8G>A
NM_000512.5(GALNS):c.423-8G>C rs111613055
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.42G>A (p.Leu14=)
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys) rs2143002458
NM_000512.5(GALNS):c.447C>T (p.Phe149=)
NM_000512.5(GALNS):c.450C>T (p.His150=)
NM_000512.5(GALNS):c.454del (p.Pro151_Leu152insTer)
NM_000512.5(GALNS):c.45G>A (p.Leu15=)
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>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
NM_000512.5(GALNS):c.471T>C (p.Asp157=)
NM_000512.5(GALNS):c.480T>C (p.Phe160=)
NM_000512.5(GALNS):c.485C>A (p.Ser162Tyr)
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.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.510T>A (p.Tyr170Ter)
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
NM_000512.5(GALNS):c.519G>A (p.Lys173=)
NM_000512.5(GALNS):c.540G>A (p.Val180=)
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.555G>A (p.Glu185=)
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
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.570T>G (p.Tyr190Ter)
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.609C>A (p.Ala203=)
NM_000512.5(GALNS):c.609C>T (p.Ala203=)
NM_000512.5(GALNS):c.60G>A (p.Ala20=)
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser) rs569725936
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.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.634-5C>G rs1354095513
NM_000512.5(GALNS):c.639C>T (p.Ala213=)
NM_000512.5(GALNS):c.63G>T (p.Gly21=)
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.666G>A (p.Arg222=)
NM_000512.5(GALNS):c.672C>T (p.His224=)
NM_000512.5(GALNS):c.675dup (p.Phe226fs)
NM_000512.5(GALNS):c.678T>C (p.Phe226=)
NM_000512.5(GALNS):c.679T>G (p.Phe227Val) rs2143001417
NM_000512.5(GALNS):c.684C>T (p.Leu228=)
NM_000512.5(GALNS):c.685T>C (p.Tyr229His)
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.707_708inv (p.His236Arg)
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.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+3G>A
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.759-7C>A
NM_000512.5(GALNS):c.75G>C (p.Ser25=)
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys) rs2143001210
NM_000512.5(GALNS):c.762T>G (p.Tyr254Ter)
NM_000512.5(GALNS):c.768C>T (p.Asp256=)
NM_000512.5(GALNS):c.777G>A (p.Arg259=)
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp) rs1210023208
NM_000512.5(GALNS):c.77dup (p.Ala27fs) rs2143013573
NM_000512.5(GALNS):c.786T>C (p.Asp262=)
NM_000512.5(GALNS):c.817C>T (p.Gln273Ter) rs2143001165
NM_000512.5(GALNS):c.81C>T (p.Ala27=)
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.841_867del (p.Thr281_Asn289del) rs1567530426
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
NM_000512.5(GALNS):c.84G>C (p.Pro28=)
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.865A>C (p.Asn289His) 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.870C>T (p.Gly290=)
NM_000512.5(GALNS):c.87G>A (p.Gln29=)
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.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+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.899-169_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.899-5C>T
NM_000512.5(GALNS):c.899-9C>G
NM_000512.5(GALNS):c.899G>T (p.Gly300Val) rs780778562
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu) rs1298604798
NM_000512.5(GALNS):c.902G>A (p.Gly301Asp) rs776715466
NM_000512.5(GALNS):c.90C>G (p.Pro30=) rs1967938638
NM_000512.5(GALNS):c.912C>T (p.Gly304=)
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp) rs1567526988
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>T (p.Thr312Ser) rs2142999186
NM_000512.5(GALNS):c.939G>A (p.Thr313=)
NM_000512.5(GALNS):c.93del (p.Asn32fs)
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg) rs556060696
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr) rs773933657
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.96C>T (p.Asn32=)
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser) rs569725890
NM_000512.5(GALNS):c.972A>G (p.Ala324=)
NM_000512.5(GALNS):c.984G>A (p.Gly328=)
NM_000512.5(GALNS):c.9G>T (p.Ala3=)

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