ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5380
Download table as spreadsheet
HGVS dbSNP
G6PD:c.1455-13T>C rs2071429
NM_000027.4(AGA):c.105C>G (p.Pro35=) rs199757656
NM_000027.4(AGA):c.127+8T>C
NM_000027.4(AGA):c.129G>A (p.Ala43=)
NM_000027.4(AGA):c.150A>T (p.Gly50=)
NM_000027.4(AGA):c.153C>A (p.Gly51=)
NM_000027.4(AGA):c.153C>T (p.Gly51=)
NM_000027.4(AGA):c.160C>T (p.Leu54=)
NM_000027.4(AGA):c.171G>A (p.Val57=)
NM_000027.4(AGA):c.177C>T (p.Ser59=)
NM_000027.4(AGA):c.18C>T (p.Asn6=) rs1579047707
NM_000027.4(AGA):c.19T>C (p.Leu7=)
NM_000027.4(AGA):c.204G>A (p.Gln68=)
NM_000027.4(AGA):c.210C>T (p.Asp70=) rs762870187
NM_000027.4(AGA):c.219A>G (p.Val73=)
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.27G>T (p.Val9=) rs764924616
NM_000027.4(AGA):c.281+13T>G rs34241758
NM_000027.4(AGA):c.281+8C>T
NM_000027.4(AGA):c.282-9T>G
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548
NM_000027.4(AGA):c.33C>T (p.Leu11=) rs763702713
NM_000027.4(AGA):c.348G>A (p.Arg116=)
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+10T>G
NM_000027.4(AGA):c.394+19_394+20del rs575232762
NM_000027.4(AGA):c.394+7_394+10del
NM_000027.4(AGA):c.395-4C>T
NM_000027.4(AGA):c.395-7T>C
NM_000027.4(AGA):c.402A>G (p.Thr134=)
NM_000027.4(AGA):c.420G>T (p.Gly140=) rs1579044062
NM_000027.4(AGA):c.432A>G (p.Glu144=)
NM_000027.4(AGA):c.435C>T (p.Asp145=)
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000027.4(AGA):c.48C>A (p.Leu16=)
NM_000027.4(AGA):c.48C>T (p.Leu16=)
NM_000027.4(AGA):c.507+10C>T
NM_000027.4(AGA):c.507+8C>T
NM_000027.4(AGA):c.537C>T (p.Cys179=)
NM_000027.4(AGA):c.549A>G (p.Lys183=)
NM_000027.4(AGA):c.585T>C (p.His195=)
NM_000027.4(AGA):c.600T>C (p.Asp200=)
NM_000027.4(AGA):c.623-6T>C
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.63G>A (p.Val21=)
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868
NM_000027.4(AGA):c.657T>C (p.Ala219=) rs886059261
NM_000027.4(AGA):c.705A>G (p.Val235=)
NM_000027.4(AGA):c.738T>C (p.Tyr246=)
NM_000027.4(AGA):c.741T>C (p.Ala247=)
NM_000027.4(AGA):c.750T>C (p.Thr250=)
NM_000027.4(AGA):c.75C>T (p.Ser25=)
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.780T>C (p.Gly260=)
NM_000027.4(AGA):c.852A>T (p.Ile284=)
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.894A>G (p.Pro298=)
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166
NM_000027.4(AGA):c.906G>A (p.Gly302=)
NM_000027.4(AGA):c.90C>T (p.Val30=) rs371130120
NM_000027.4(AGA):c.93C>T (p.Val31=) rs922841572
NM_000027.4(AGA):c.940+8G>A
NM_000027.4(AGA):c.941-5C>T rs377622082
NM_000027.4(AGA):c.941-7G>T
NM_000027.4(AGA):c.941-8G>T
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061
NM_000027.4(AGA):c.978T>C (p.Phe326=)
NM_000027.4(AGA):c.999C>G (p.Ser333=)
NM_000027.4(AGA):c.999C>T (p.Ser333=) rs1479579564
NM_000030.2(AGXT):c.-46G>A rs73106672
NM_000030.3(AGXT):c.*19G>A rs143458283
NM_000030.3(AGXT):c.-24C>G
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.557C>T (p.Ala186Val) rs117195882
NM_000030.3(AGXT):c.590G>A (p.Arg197Gln) rs34664134
NM_000030.3(AGXT):c.732C>A (p.Ile244=) rs147106773
NM_000030.3(AGXT):c.777-17C>A rs112319664
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.840G>A (p.Ala280=) rs143295006
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245
NM_000030.3(AGXT):c.942+12C>G
NM_000030.3(AGXT):c.942+14T>G rs886055843
NM_000035.4(ALDOB):c.*12C>T rs201867948
NM_000035.4(ALDOB):c.*152A>G
NM_000035.4(ALDOB):c.*567C>T rs540272117
NM_000035.4(ALDOB):c.*752C>G rs555999328
NM_000035.4(ALDOB):c.*849T>C rs181650438
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=) rs566549564
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=) rs546735701
NM_000035.4(ALDOB):c.1026G>A (p.Gln342=)
NM_000035.4(ALDOB):c.1035C>T (p.His345=) rs761508514
NM_000035.4(ALDOB):c.1044T>C (p.Ser348=)
NM_000035.4(ALDOB):c.1062C>G (p.Thr354=)
NM_000035.4(ALDOB):c.1065G>A (p.Gln355=)
NM_000035.4(ALDOB):c.1068G>A (p.Ser356=)
NM_000035.4(ALDOB):c.112+7G>A
NM_000035.4(ALDOB):c.178C>A (p.Arg60=) rs118204429
NM_000035.4(ALDOB):c.186C>T (p.Ile62=) rs1588172329
NM_000035.4(ALDOB):c.18A>T (p.Pro6=)
NM_000035.4(ALDOB):c.207C>T (p.Ser69=) rs779129856
NM_000035.4(ALDOB):c.222C>T (p.Ile74=)
NM_000035.4(ALDOB):c.231G>T (p.Val77=)
NM_000035.4(ALDOB):c.243C>T (p.His81=) rs182003715
NM_000035.4(ALDOB):c.249C>T (p.Thr83=)
NM_000035.4(ALDOB):c.252C>G (p.Leu84=)
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.285A>G (p.Arg95=)
NM_000035.4(ALDOB):c.294C>G (p.Leu98=)
NM_000035.4(ALDOB):c.318A>G (p.Gly106=)
NM_000035.4(ALDOB):c.324+7A>C
NM_000035.4(ALDOB):c.336A>C (p.Gly112=) rs1248064943
NM_000035.4(ALDOB):c.369C>A (p.Thr123=)
NM_000035.4(ALDOB):c.375T>C (p.Ile125=) rs886063292
NM_000035.4(ALDOB):c.380-4G>T
NM_000035.4(ALDOB):c.396A>G (p.Ser132=)
NM_000035.4(ALDOB):c.423T>C (p.Asp141=)
NM_000035.4(ALDOB):c.462T>C (p.Ile154=)
NM_000035.4(ALDOB):c.465C>A (p.Ala155=)
NM_000035.4(ALDOB):c.465C>T (p.Ala155=) rs569981883
NM_000035.4(ALDOB):c.468C>T (p.Asp156=)
NM_000035.4(ALDOB):c.480C>T (p.Ser160=)
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.489T>A (p.Ala163=) rs578048957
NM_000035.4(ALDOB):c.501C>T (p.Asn167=) rs186836225
NM_000035.4(ALDOB):c.507C>T (p.Asn169=) rs746351347
NM_000035.4(ALDOB):c.511C>T (p.Leu171=)
NM_000035.4(ALDOB):c.522C>T (p.Tyr174=) rs752902486
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914
NM_000035.4(ALDOB):c.537G>A (p.Gln179=) rs775053176
NM_000035.4(ALDOB):c.540+9C>A
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.549G>T (p.Leu183=)
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626
NM_000035.4(ALDOB):c.619G>C (p.Glu207Gln) rs3739721
NM_000035.4(ALDOB):c.621G>A (p.Glu207=)
NM_000035.4(ALDOB):c.625-10T>C
NM_000035.4(ALDOB):c.654T>C (p.Asn218=) rs780943027
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.690G>A (p.Lys230=)
NM_000035.4(ALDOB):c.708T>C (p.Ala236=)
NM_000035.4(ALDOB):c.717C>T (p.Ala239=) rs772197524
NM_000035.4(ALDOB):c.738A>G (p.Pro246=)
NM_000035.4(ALDOB):c.750T>A (p.Ala250=)
NM_000035.4(ALDOB):c.759C>A (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.799+11C>T rs182245025
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000035.4(ALDOB):c.800-5A>G
NM_000035.4(ALDOB):c.800-6T>C
NM_000035.4(ALDOB):c.813G>A (p.Leu271=)
NM_000035.4(ALDOB):c.819T>C (p.Gly273=)
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631
NM_000035.4(ALDOB):c.873T>A (p.Pro291=) rs765247994
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000035.4(ALDOB):c.912G>C (p.Arg304=)
NM_000035.4(ALDOB):c.915C>G (p.Ala305=)
NM_000035.4(ALDOB):c.933G>A (p.Leu311=)
NM_000035.4(ALDOB):c.954T>C (p.Ala318=) rs572044496
NM_000035.4(ALDOB):c.966G>A (p.Glu322=) rs149166711
NM_000035.4(ALDOB):c.996C>T (p.Ala332=)
NM_000035.4(ALDOB):c.99A>C (p.Ala33=)
NM_000046.3(ARSB):c.*3195A>G rs16875887
NM_000046.3(ARSB):c.-906C>G rs62377914
NM_000046.3(ARSB):c.-958A>G rs57586329
NM_000046.5(ARSB):c.*2243A>G rs145585943
NM_000046.5(ARSB):c.1011G>A (p.Leu337=)
NM_000046.5(ARSB):c.1026G>A (p.Val342=)
NM_000046.5(ARSB):c.1065A>G (p.Pro355=) rs1580000175
NM_000046.5(ARSB):c.1071C>T (p.Leu357=)
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
NM_000046.5(ARSB):c.1125C>T (p.Asp375=)
NM_000046.5(ARSB):c.1142+7A>T
NM_000046.5(ARSB):c.1142+9A>C
NM_000046.5(ARSB):c.1143-4C>A
NM_000046.5(ARSB):c.1143-5T>C rs777189032
NM_000046.5(ARSB):c.1152C>T (p.Ser384=)
NM_000046.5(ARSB):c.1155A>G (p.Pro385=)
NM_000046.5(ARSB):c.1174C>T (p.Leu392=)
NM_000046.5(ARSB):c.1197C>T (p.Phe399=) rs200793396
NM_000046.5(ARSB):c.1203C>T (p.Asp401=)
NM_000046.5(ARSB):c.1214-5C>G rs1580962835
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
NM_000046.5(ARSB):c.1254T>C (p.Ser418=)
NM_000046.5(ARSB):c.1272C>A (p.Ala424=)
NM_000046.5(ARSB):c.1308A>C (p.Gly436=)
NM_000046.5(ARSB):c.1326G>A (p.Thr442=)
NM_000046.5(ARSB):c.132G>T (p.Pro44=)
NM_000046.5(ARSB):c.1336+7del rs748129076
NM_000046.5(ARSB):c.1337-3T>A rs183651028
NM_000046.5(ARSB):c.1337-6T>C
NM_000046.5(ARSB):c.1347C>T (p.Tyr449=)
NM_000046.5(ARSB):c.1389C>T (p.Pro463=)
NM_000046.5(ARSB):c.1395A>G (p.Ser465=)
NM_000046.5(ARSB):c.1404A>C (p.Pro468=) rs1580961280
NM_000046.5(ARSB):c.1425T>C (p.Phe475=)
NM_000046.5(ARSB):c.1434T>C (p.Asp478=)
NM_000046.5(ARSB):c.1440C>T (p.Asp480=)
NM_000046.5(ARSB):c.1482C>T (p.Ile494=)
NM_000046.5(ARSB):c.1488A>G (p.Thr496=)
NM_000046.5(ARSB):c.1500C>T (p.Ser500=) rs762978908
NM_000046.5(ARSB):c.150G>A (p.Leu50=)
NM_000046.5(ARSB):c.1533C>T (p.Pro511=) rs528157833
NM_000046.5(ARSB):c.1548A>C (p.Ala516=)
NM_000046.5(ARSB):c.1560C>T (p.Arg520=)
NM_000046.5(ARSB):c.1575C>A (p.Ala525=)
NM_000046.5(ARSB):c.1578T>C (p.Thr526=)
NM_000046.5(ARSB):c.1584G>A (p.Val528=)
NM_000046.5(ARSB):c.15C>G (p.Gly5=)
NM_000046.5(ARSB):c.163C>T (p.Leu55=)
NM_000046.5(ARSB):c.18G>C (p.Ala6=)
NM_000046.5(ARSB):c.222G>A (p.Ala74=)
NM_000046.5(ARSB):c.231C>T (p.Ala77=)
NM_000046.5(ARSB):c.240G>A (p.Val80=)
NM_000046.5(ARSB):c.261G>A (p.Thr87=)
NM_000046.5(ARSB):c.264G>A (p.Gln88=)
NM_000046.5(ARSB):c.282G>A (p.Ser94=)
NM_000046.5(ARSB):c.300T>C (p.Thr100=)
NM_000046.5(ARSB):c.312+8G>A
NM_000046.5(ARSB):c.312+8G>C rs774555967
NM_000046.5(ARSB):c.313-12T>C
NM_000046.5(ARSB):c.315C>T (p.Ile105=)
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.324T>C (p.Gly108=)
NM_000046.5(ARSB):c.339A>T (p.Ile113=)
NM_000046.5(ARSB):c.351T>C (p.Cys117=)
NM_000046.5(ARSB):c.363T>C (p.Cys121=)
NM_000046.5(ARSB):c.36C>A (p.Gly12=) rs1580170993
NM_000046.5(ARSB):c.384C>G (p.Leu128=)
NM_000046.5(ARSB):c.385C>T (p.Leu129=)
NM_000046.5(ARSB):c.429C>T (p.Val143=)
NM_000046.5(ARSB):c.474C>T (p.Thr158=)
NM_000046.5(ARSB):c.477C>T (p.Arg159=)
NM_000046.5(ARSB):c.499+10A>G
NM_000046.5(ARSB):c.499+7G>A
NM_000046.5(ARSB):c.500-10A>G
NM_000046.5(ARSB):c.510G>C (p.Leu170=) rs768312895
NM_000046.5(ARSB):c.531C>G (p.Ser177=)
NM_000046.5(ARSB):c.531C>T (p.Ser177=)
NM_000046.5(ARSB):c.54G>A (p.Leu18=) rs142781021
NM_000046.5(ARSB):c.555C>T (p.Asp185=) rs780886808
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.60C>T (p.Leu20=)
NM_000046.5(ARSB):c.63C>G (p.Pro21=)
NM_000046.5(ARSB):c.654G>A (p.Arg218=)
NM_000046.5(ARSB):c.658A>G (p.Ile220Val)
NM_000046.5(ARSB):c.663C>T (p.Ala221=)
NM_000046.5(ARSB):c.66C>T (p.Val22=) rs895965810
NM_000046.5(ARSB):c.678T>C (p.His226=) rs1580135735
NM_000046.5(ARSB):c.691-6T>C
NM_000046.5(ARSB):c.694C>T (p.Leu232=)
NM_000046.5(ARSB):c.710C>A (p.Ala237Asp) rs1554086435
NM_000046.5(ARSB):c.714C>G (p.Leu238=)
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.723G>T (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.756G>A (p.Leu252=) rs544156449
NM_000046.5(ARSB):c.76C>T (p.Leu26=) rs1220314595
NM_000046.5(ARSB):c.783G>A (p.Lys261=)
NM_000046.5(ARSB):c.789G>A (p.Arg263=)
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.837T>C (p.Asn279=)
NM_000046.5(ARSB):c.84G>A (p.Leu28=) rs754324013
NM_000046.5(ARSB):c.879G>A (p.Thr293=)
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
NM_000046.5(ARSB):c.918G>A (p.Leu306=)
NM_000046.5(ARSB):c.91T>C (p.Leu31=)
NM_000046.5(ARSB):c.921A>C (p.Ala307=)
NM_000046.5(ARSB):c.942T>C (p.Leu314=)
NM_000046.5(ARSB):c.963G>A (p.Leu321=)
NM_000046.5(ARSB):c.979C>A (p.Arg327=)
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000046.5(ARSB):c.999A>G (p.Ala333=) rs1580000383
NM_000046.5(ARSB):c.9G>C (p.Pro3=)
NM_000108.5(DLD):c.*1640A>G
NM_000108.5(DLD):c.*1736T>C rs190655078
NM_000108.5(DLD):c.*1876G>A
NM_000108.5(DLD):c.*470G>A rs111619940
NM_000108.5(DLD):c.*474T>C
NM_000108.5(DLD):c.*887T>C
NM_000108.5(DLD):c.1005T>C (p.Gly335=) rs763878786
NM_000108.5(DLD):c.1011T>C (p.Ile337=) rs761507009
NM_000108.5(DLD):c.1014A>G (p.Pro338=)
NM_000108.5(DLD):c.1032A>G (p.Gln344=)
NM_000108.5(DLD):c.1047-13_1047-5del rs1462836154
NM_000108.5(DLD):c.1047-4G>T
NM_000108.5(DLD):c.1047-7_1047-4del
NM_000108.5(DLD):c.105C>T (p.Tyr35=) rs747810875
NM_000108.5(DLD):c.1101G>A (p.Glu367=)
NM_000108.5(DLD):c.118+10T>G
NM_000108.5(DLD):c.1182C>T (p.Tyr394=) rs757087726
NM_000108.5(DLD):c.119-4G>A rs376605135
NM_000108.5(DLD):c.119-5C>T
NM_000108.5(DLD):c.119-7A>G
NM_000108.5(DLD):c.1236+9G>A
NM_000108.5(DLD):c.1237-7G>A
NM_000108.5(DLD):c.1254T>A (p.Val418=)
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785
NM_000108.5(DLD):c.1272T>C (p.Ala424=)
NM_000108.5(DLD):c.1296T>C (p.Asn432=)
NM_000108.5(DLD):c.1320G>A (p.Lys440=)
NM_000108.5(DLD):c.1359A>G (p.Ala453=)
NM_000108.5(DLD):c.1374+10G>A
NM_000108.5(DLD):c.1374+9T>A rs1584473925
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495
NM_000108.5(DLD):c.1428C>T (p.Ser476=)
NM_000108.5(DLD):c.1443T>G (p.Ala481=) rs775957704
NM_000108.5(DLD):c.1452T>C (p.Cys484=) rs760982359
NM_000108.5(DLD):c.1465-7C>G rs886061908
NM_000108.5(DLD):c.1465-9C>T
NM_000108.5(DLD):c.1467C>A (p.Thr489=)
NM_000108.5(DLD):c.1482T>C (p.Phe494=)
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.1503G>A (p.Ala501=) rs766286119
NM_000108.5(DLD):c.168T>C (p.Ala56=)
NM_000108.5(DLD):c.180T>G (p.Ala60=)
NM_000108.5(DLD):c.183C>G (p.Ala61=)
NM_000108.5(DLD):c.183C>T (p.Ala61=)
NM_000108.5(DLD):c.18T>C (p.Arg6=)
NM_000108.5(DLD):c.198+10G>C
NM_000108.5(DLD):c.199-10T>C
NM_000108.5(DLD):c.199-4G>T
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.204C>G (p.Val68=) rs553951105
NM_000108.5(DLD):c.24C>T (p.Tyr8=)
NM_000108.5(DLD):c.267+9G>A rs188936529
NM_000108.5(DLD):c.268-7C>T rs1584463325
NM_000108.5(DLD):c.282C>T (p.Asn94=) rs144617361
NM_000108.5(DLD):c.285T>C (p.Ser95=) rs761564212
NM_000108.5(DLD):c.30C>T (p.Ser10=)
NM_000108.5(DLD):c.321A>G (p.Ala107=) rs138398782
NM_000108.5(DLD):c.337+7A>G
NM_000108.5(DLD):c.342C>T (p.Ser114=)
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.351C>T (p.Arg117=)
NM_000108.5(DLD):c.36C>T (p.Ala12=) rs780127925
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.387T>A (p.Thr129=)
NM_000108.5(DLD):c.40-10C>G
NM_000108.5(DLD):c.417C>G (p.Ala139=)
NM_000108.5(DLD):c.439-4A>G
NM_000108.5(DLD):c.439-6G>C rs369208046
NM_000108.5(DLD):c.439-7_439-6inv
NM_000108.5(DLD):c.444T>G (p.Val148=)
NM_000108.5(DLD):c.474C>A (p.Gly158=)
NM_000108.5(DLD):c.48T>C (p.His16=)
NM_000108.5(DLD):c.495G>A (p.Thr165=)
NM_000108.5(DLD):c.507C>A (p.Gly169=)
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
NM_000108.5(DLD):c.519T>G (p.Val173=) rs148559280
NM_000108.5(DLD):c.528A>T (p.Thr176=)
NM_000108.5(DLD):c.540T>C (p.Leu180=)
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.57A>T (p.Arg19=) rs754899464
NM_000108.5(DLD):c.583-3C>T rs186031819
NM_000108.5(DLD):c.597A>G (p.Thr199=)
NM_000108.5(DLD):c.597A>T (p.Thr199=) rs768248572
NM_000108.5(DLD):c.609T>C (p.Ser203=)
NM_000108.5(DLD):c.654T>C (p.Val218=) rs1584465590
NM_000108.5(DLD):c.669A>C (p.Val223=)
NM_000108.5(DLD):c.684+9T>A
NM_000108.5(DLD):c.685-4G>A
NM_000108.5(DLD):c.685-4G>T
NM_000108.5(DLD):c.685-8_685-5del
NM_000108.5(DLD):c.699A>G (p.Gln233=)
NM_000108.5(DLD):c.723A>G (p.Ala241=)
NM_000108.5(DLD):c.72A>G (p.Leu24=)
NM_000108.5(DLD):c.735A>G (p.Leu245=)
NM_000108.5(DLD):c.741T>C (p.His247=)
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.807G>T (p.Gly269=)
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000108.5(DLD):c.834T>C (p.Val278=)
NM_000108.5(DLD):c.876-6A>T rs199944006
NM_000108.5(DLD):c.888T>C (p.Ala296=)
NM_000108.5(DLD):c.93T>C (p.Pro31=)
NM_000108.5(DLD):c.94C>T (p.Leu32=)
NM_000108.5(DLD):c.951C>G (p.Pro317=) rs778207997
NM_000108.5(DLD):c.954T>C (p.Phe318=)
NM_000108.5(DLD):c.96G>C (p.Leu32=) rs765623212
NM_000147.4(FUCA1):c.-86T>G rs2070953
NM_000147.4(FUCA1):c.1026T>G (p.Thr342=) rs771696380
NM_000147.4(FUCA1):c.1119A>G (p.Lys373=) rs370453371
NM_000147.4(FUCA1):c.327G>A (p.Gln109=) rs61996281
NM_000147.4(FUCA1):c.402G>C (p.Leu134Phe) rs143691289
NM_000147.4(FUCA1):c.405G>A (p.Thr135=) rs145153173
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.525-8T>G rs41268125
NM_000147.4(FUCA1):c.648C>T (p.Tyr216=) rs80358198
NM_000147.4(FUCA1):c.759C>T (p.Ser253=) rs757698879
NM_000147.4(FUCA1):c.778G>A (p.Val260Ile) rs665
NM_000147.4(FUCA1):c.936G>A (p.Leu312=) rs140932886
NM_000147.4(FUCA1):c.969+5G>C rs115939152
NM_000147.5(FUCA1):c.1359C>T (p.Pro453=)
NM_000147.5(FUCA1):c.144G>A (p.Pro48=)
NM_000147.5(FUCA1):c.532C>T (p.Arg178Cys)
NM_000147.5(FUCA1):c.663-11A>G
NM_000151.4(G6PC1):c.*2418G>C
NM_000151.4(G6PC1):c.*2975A>T
NM_000151.4(G6PC1):c.*3G>A rs191399793
NM_000151.4(G6PC1):c.*745G>T rs116897758
NM_000151.4(G6PC1):c.-77G>A
NM_000151.4(G6PC1):c.1002C>T (p.Pro334=) rs143991162
NM_000151.4(G6PC1):c.1011C>T (p.Ser337=)
NM_000151.4(G6PC1):c.1029C>T (p.Tyr343=)
NM_000151.4(G6PC1):c.1035C>T (p.Leu345=)
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=) rs779263877
NM_000151.4(G6PC1):c.108C>T (p.Ile36=)
NM_000151.4(G6PC1):c.144C>T (p.Pro48=)
NM_000151.4(G6PC1):c.18T>C (p.Asn6=) rs144652516
NM_000151.4(G6PC1):c.219C>A (p.Leu73=)
NM_000151.4(G6PC1):c.219C>T (p.Leu73=)
NM_000151.4(G6PC1):c.220G>A (p.Val74Ile)
NM_000151.4(G6PC1):c.225T>C (p.Phe75=)
NM_000151.4(G6PC1):c.231-5C>T
NM_000151.4(G6PC1):c.246G>A (p.Gln82=)
NM_000151.4(G6PC1):c.252A>G (p.Pro84=)
NM_000151.4(G6PC1):c.255C>T (p.Tyr85=)
NM_000151.4(G6PC1):c.285C>T (p.Ser95=)
NM_000151.4(G6PC1):c.294C>T (p.Ser98=) rs777452219
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.340+20C>T rs183285298
NM_000151.4(G6PC1):c.340+7G>T
NM_000151.4(G6PC1):c.354C>G (p.Gly118=)
NM_000151.4(G6PC1):c.360C>T (p.Ala120=)
NM_000151.4(G6PC1):c.384C>T (p.Tyr128=)
NM_000151.4(G6PC1):c.405T>C (p.Leu135=)
NM_000151.4(G6PC1):c.42G>A (p.Gln14=)
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628
NM_000151.4(G6PC1):c.435C>G (p.Thr145=)
NM_000151.4(G6PC1):c.446+7A>C
NM_000151.4(G6PC1):c.447-6T>C rs1597990833
NM_000151.4(G6PC1):c.447G>A (p.Arg149=) rs549712764
NM_000151.4(G6PC1):c.453G>A (p.Leu151=)
NM_000151.4(G6PC1):c.456T>C (p.Asn152=)
NM_000151.4(G6PC1):c.45A>G (p.Ser15=)
NM_000151.4(G6PC1):c.549T>C (p.Ala183=)
NM_000151.4(G6PC1):c.558G>T (p.Leu186=) rs141376085
NM_000151.4(G6PC1):c.562+7G>A
NM_000151.4(G6PC1):c.563-5C>T rs1246163955
NM_000151.4(G6PC1):c.563-6A>G
NM_000151.4(G6PC1):c.570T>C (p.Ala190=) rs753671536
NM_000151.4(G6PC1):c.582T>C (p.Thr194=)
NM_000151.4(G6PC1):c.606T>C (p.Tyr202=) rs1555560103
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.642C>T (p.Phe214=)
NM_000151.4(G6PC1):c.646C>T (p.Leu216=) rs749665480
NM_000151.4(G6PC1):c.657C>T (p.Phe219=)
NM_000151.4(G6PC1):c.663C>T (p.Ile221=)
NM_000151.4(G6PC1):c.66T>C (p.Asn22=)
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.699C>T (p.Asp233=)
NM_000151.4(G6PC1):c.702C>G (p.Leu234=)
NM_000151.4(G6PC1):c.705G>A (p.Leu235=)
NM_000151.4(G6PC1):c.723C>T (p.Ala241=) rs762967975
NM_000151.4(G6PC1):c.726G>A (p.Gln242=)
NM_000151.4(G6PC1):c.753C>A (p.Val251=) rs1422424986
NM_000151.4(G6PC1):c.753C>T (p.Val251=)
NM_000151.4(G6PC1):c.765C>T (p.Thr255=) rs1555560144
NM_000151.4(G6PC1):c.780C>T (p.Ser260=)
NM_000151.4(G6PC1):c.786C>T (p.Leu262=) rs138509513
NM_000151.4(G6PC1):c.800C>T (p.Thr267Met)
NM_000151.4(G6PC1):c.801G>A (p.Thr267=)
NM_000151.4(G6PC1):c.804C>T (p.Leu268=)
NM_000151.4(G6PC1):c.822T>C (p.Ala274=)
NM_000151.4(G6PC1):c.870G>A (p.Lys290=)
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000151.4(G6PC1):c.930C>T (p.Asp310=)
NM_000151.4(G6PC1):c.942C>G (p.Pro314=) rs141352548
NM_000151.4(G6PC1):c.948C>A (p.Ser316=) rs137978566
NM_000151.4(G6PC1):c.954C>T (p.Val318=) rs372612424
NM_000151.4(G6PC1):c.960G>T (p.Leu320=) rs531727073
NM_000151.4(G6PC1):c.969C>T (p.Tyr323=)
NM_000151.4(G6PC1):c.993G>A (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.993G>C (p.Ala331=) rs369238258
NM_000151.4(G6PC1):c.999G>A (p.Val333=)
NM_000152.5(GAA):c.*139dup rs865903736
NM_000152.5(GAA):c.-178G>A rs77514632
NM_000152.5(GAA):c.-260G>C rs2304849
NM_000152.5(GAA):c.-312C>T rs574326920
NM_000152.5(GAA):c.-338C>G rs144639114
NM_000152.5(GAA):c.-75C>G
NM_000152.5(GAA):c.1005G>A (p.Gly335=) rs1598576696
NM_000152.5(GAA):c.1035A>C (p.Pro345=) rs942325926
NM_000152.5(GAA):c.1041C>T (p.Pro347=) rs1489442441
NM_000152.5(GAA):c.1044G>A (p.Lys348=)
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940
NM_000152.5(GAA):c.1053G>A (p.Val351=) rs773063199
NM_000152.5(GAA):c.1053G>T (p.Val351=) rs773063199
NM_000152.5(GAA):c.1056G>A (p.Gln352=)
NM_000152.5(GAA):c.1059G>A (p.Gln353=) rs376146090
NM_000152.5(GAA):c.1065G>A (p.Leu355=)
NM_000152.5(GAA):c.1068C>T (p.Asp356=) rs751215137
NM_000152.5(GAA):c.1071T>C (p.Val357=) rs1598576937
NM_000152.5(GAA):c.1075+12T>G rs370842677
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1076-4G>T
NM_000152.5(GAA):c.1080C>T (p.Tyr360=)
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.1086C>T (p.Phe362=)
NM_000152.5(GAA):c.108G>A (p.Leu36=)
NM_000152.5(GAA):c.1092G>A (p.Pro364=) rs777730774
NM_000152.5(GAA):c.1095A>G (p.Pro365=)
NM_000152.5(GAA):c.1105C>T (p.Leu369=)
NM_000152.5(GAA):c.1110C>T (p.Gly370=)
NM_000152.5(GAA):c.1116C>T (p.His372=)
NM_000152.5(GAA):c.1122C>T (p.Cys374=)
NM_000152.5(GAA):c.1137C>G (p.Ser379=)
NM_000152.5(GAA):c.1140C>A (p.Ser380=)
NM_000152.5(GAA):c.1140C>T (p.Ser380=) rs1214685237
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449
NM_000152.5(GAA):c.1155C>T (p.Arg385=)
NM_000152.5(GAA):c.1170C>T (p.Asn390=) rs757174980
NM_000152.5(GAA):c.1176C>T (p.Thr392=)
NM_000152.5(GAA):c.1182C>T (p.Ala394=)
NM_000152.5(GAA):c.1192C>T (p.Leu398=) rs369707231
NM_000152.5(GAA):c.1194+8G>T
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1195-5T>C
NM_000152.5(GAA):c.1195-9T>C
NM_000152.5(GAA):c.1197C>T (p.Asp399=)
NM_000152.5(GAA):c.119G>A (p.Arg40Gln) rs374476196
NM_000152.5(GAA):c.1209C>T (p.Asn403=) rs751333479
NM_000152.5(GAA):c.1212C>T (p.Asp404=)
NM_000152.5(GAA):c.1218C>T (p.Asp406=)
NM_000152.5(GAA):c.1239C>T (p.Asp413=)
NM_000152.5(GAA):c.1245G>A (p.Thr415=) rs760920034
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln) rs2229224
NM_000152.5(GAA):c.1293G>T (p.Leu431=)
NM_000152.5(GAA):c.1302C>T (p.Gly434=) rs752231775
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1323C>T (p.Ile441=)
NM_000152.5(GAA):c.1326+8C>A rs762988038
NM_000152.5(GAA):c.1326+8C>T
NM_000152.5(GAA):c.1327-5C>A
NM_000152.5(GAA):c.1327-8C>T rs1598579967
NM_000152.5(GAA):c.132C>T (p.Gly44=)
NM_000152.5(GAA):c.1332T>C (p.Pro444=) rs200007324
NM_000152.5(GAA):c.1338C>T (p.Ile446=)
NM_000152.5(GAA):c.1346C>T (p.Ser449Leu) rs753483808
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942
NM_000152.5(GAA):c.1347G>C (p.Ser449=)
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
NM_000152.5(GAA):c.1416C>A (p.Thr472=)
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1437+7C>G
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1438-10C>T rs1029231930
NM_000152.5(GAA):c.1438-7T>C
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1440A>G (p.Val480=) rs1555600737
NM_000152.5(GAA):c.1455T>G (p.Thr485=)
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
NM_000152.5(GAA):c.1464C>T (p.Pro488=)
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1486C>T (p.Leu496=) rs1598581572
NM_000152.5(GAA):c.1488G>A (p.Leu496=) rs750777002
NM_000152.5(GAA):c.1491C>T (p.Ala497=) rs373993015
NM_000152.5(GAA):c.1500G>A (p.Glu500=) rs893313279
NM_000152.5(GAA):c.1518C>T (p.Phe506=) rs1464913441
NM_000152.5(GAA):c.1533C>G (p.Pro511=) rs1598581655
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
NM_000152.5(GAA):c.1551+10G>T
NM_000152.5(GAA):c.1551+7G>A
NM_000152.5(GAA):c.1551+7G>T
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-8T>C
NM_000152.5(GAA):c.1554C>T (p.Asp518=)
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.159C>T (p.His53=)
NM_000152.5(GAA):c.1602C>A (p.Pro534=)
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1636+10C>A
NM_000152.5(GAA):c.1636+15dup
NM_000152.5(GAA):c.1636+7T>C rs1041767114
NM_000152.5(GAA):c.1636+8C>T rs572293131
NM_000152.5(GAA):c.1636+9G>A
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1637-9C>T
NM_000152.5(GAA):c.1650G>A (p.Gly550=)
NM_000152.5(GAA):c.1656C>A (p.Leu552=)
NM_000152.5(GAA):c.1662G>A (p.Ala554=) rs775954786
NM_000152.5(GAA):c.1674T>C (p.Cys558=)
NM_000152.5(GAA):c.1680C>T (p.Ser560=)
NM_000152.5(GAA):c.1683C>T (p.Ser561=)
NM_000152.5(GAA):c.1695C>G (p.Leu565=)
NM_000152.5(GAA):c.1704C>T (p.His568=)
NM_000152.5(GAA):c.1710C>T (p.Asn570=)
NM_000152.5(GAA):c.1711C>T (p.Leu571=)
NM_000152.5(GAA):c.1716C>T (p.His572=)
NM_000152.5(GAA):c.1719C>T (p.Asn573=)
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1754+21C>T rs373387713
NM_000152.5(GAA):c.1754+9C>G
NM_000152.5(GAA):c.1755-7A>G rs781539108
NM_000152.5(GAA):c.1776G>A (p.Gly592=)
NM_000152.5(GAA):c.1776G>C (p.Gly592=)
NM_000152.5(GAA):c.1797C>T (p.Ser599=)
NM_000152.5(GAA):c.1800C>T (p.Arg600=) rs1598584611
NM_000152.5(GAA):c.1803G>A (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1803G>T (p.Ser601=) rs368993048
NM_000152.5(GAA):c.1806C>A (p.Thr602=) rs1598584645
NM_000152.5(GAA):c.1815C>T (p.Gly605=)
NM_000152.5(GAA):c.1818C>T (p.His606=) rs374368644
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277
NM_000152.5(GAA):c.1830C>T (p.Ala610=) rs61736896
NM_000152.5(GAA):c.183C>T (p.Ser61=) rs17853995
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1842G>C (p.Thr614=)
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810
NM_000152.5(GAA):c.1851G>A (p.Val617=) rs886042906
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972
NM_000152.5(GAA):c.1872C>T (p.Leu624=) rs373103422
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
NM_000152.5(GAA):c.1884G>C (p.Val628=) rs780130036
NM_000152.5(GAA):c.1888+49_1888+72del rs1555601511
NM_000152.5(GAA):c.1888+51_1888+74del rs1555601512
NM_000152.5(GAA):c.1888+8C>T rs772887194
NM_000152.5(GAA):c.1889-5C>T rs794727115
NM_000152.5(GAA):c.1893C>T (p.Ile631=) rs1598585395
NM_000152.5(GAA):c.18G>A (p.Pro6=) rs774703637
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1905C>T (p.Asn635=)
NM_000152.5(GAA):c.1906C>T (p.Leu636=)
NM_000152.5(GAA):c.1914G>A (p.Gly638=) rs1305357140
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.1926C>T (p.Val642=)
NM_000152.5(GAA):c.1929G>A (p.Gly643=) rs371096565
NM_000152.5(GAA):c.1932C>T (p.Ala644=) rs746194098
NM_000152.5(GAA):c.1935C>T (p.Asp645=)
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1959C>T (p.Thr653=)
NM_000152.5(GAA):c.1977G>A (p.Val659=) rs751873094
NM_000152.5(GAA):c.1986C>T (p.Thr662=)
NM_000152.5(GAA):c.1989G>A (p.Gln663=) rs1189531783
NM_000152.5(GAA):c.2025C>T (p.Asn675=) rs143951130
NM_000152.5(GAA):c.2040+11_2040+18dup
NM_000152.5(GAA):c.2040+16C>T rs573522544
NM_000152.5(GAA):c.2040+8G>A
NM_000152.5(GAA):c.2040+8G>C rs779647712
NM_000152.5(GAA):c.2041-4G>A
NM_000152.5(GAA):c.2041-7C>T
NM_000152.5(GAA):c.2043C>A (p.Pro681=)
NM_000152.5(GAA):c.2043C>T (p.Pro681=)
NM_000152.5(GAA):c.204C>T (p.Ala68=)
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2055C>T (p.Tyr685=) rs750214208
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2070G>A (p.Pro690=)
NM_000152.5(GAA):c.2097C>T (p.Leu699=) rs1381174968
NM_000152.5(GAA):c.2100C>T (p.Thr700=) rs199571088
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2115C>T (p.Leu705=)
NM_000152.5(GAA):c.2118C>G (p.Leu706=)
NM_000152.5(GAA):c.2118C>T (p.Leu706=)
NM_000152.5(GAA):c.2124C>T (p.His708=)
NM_000152.5(GAA):c.2134C>T (p.Leu712=)
NM_000152.5(GAA):c.2142C>T (p.His714=)
NM_000152.5(GAA):c.2148C>A (p.Ala716=)
NM_000152.5(GAA):c.2151C>T (p.His717=) rs758725073
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2154C>G (p.Val718=) rs1800311
NM_000152.5(GAA):c.2154C>T (p.Val718=) rs1800311
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2163G>A (p.Glu721=)
NM_000152.5(GAA):c.2166C>T (p.Thr722=) rs759452172
NM_000152.5(GAA):c.216C>T (p.Pro72=) rs753287841
NM_000152.5(GAA):c.2172C>T (p.Ala724=)
NM_000152.5(GAA):c.2175G>T (p.Arg725=)
NM_000152.5(GAA):c.2178C>A (p.Pro726=)
NM_000152.5(GAA):c.2178C>T (p.Pro726=)
NM_000152.5(GAA):c.2189+10C>T
NM_000152.5(GAA):c.2189+9C>G
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2196C>A (p.Pro732=) rs915890435
NM_000152.5(GAA):c.2205T>C (p.Ser735=)
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2211C>T (p.Thr737=)
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2235G>A (p.Leu745=)
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758
NM_000152.5(GAA):c.2268C>T (p.Leu756=)
NM_000152.5(GAA):c.2274C>T (p.Ala758=) rs150431943
NM_000152.5(GAA):c.2283C>T (p.Ala761=) rs774769974
NM_000152.5(GAA):c.2289G>A (p.Val763=)
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.231A>G (p.Ala77=)
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429
NM_000152.5(GAA):c.2325G>A (p.Leu775=)
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2332-5T>G rs1276069832
NM_000152.5(GAA):c.2355C>T (p.Ser785=)
NM_000152.5(GAA):c.2367A>G (p.Pro789=)
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597
NM_000152.5(GAA):c.2392A>G (p.Ile798Val)
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2403G>A (p.Glu801=)
NM_000152.5(GAA):c.2409G>A (p.Gln803=)
NM_000152.5(GAA):c.240A>G (p.Thr80=) rs778124725
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2415G>T (p.Val805=)
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938
NM_000152.5(GAA):c.2424G>A (p.Pro808=) rs763272351
NM_000152.5(GAA):c.2427C>G (p.Ala809=) rs766325117
NM_000152.5(GAA):c.2430C>G (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2430C>T (p.Pro810=) rs554839058
NM_000152.5(GAA):c.2445C>T (p.Asn815=) rs755846997
NM_000152.5(GAA):c.2451C>T (p.His817=)
NM_000152.5(GAA):c.2466C>T (p.Tyr822=)
NM_000152.5(GAA):c.246C>T (p.Cys82=) rs749584846
NM_000152.5(GAA):c.2476C>T (p.Leu826=)
NM_000152.5(GAA):c.2478G>A (p.Leu826=) rs201183207
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2481+7G>A
NM_000152.5(GAA):c.2482-8C>A
NM_000152.5(GAA):c.2482-8C>G
NM_000152.5(GAA):c.2482-8C>T
NM_000152.5(GAA):c.2496A>G (p.Thr832=)
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519
NM_000152.5(GAA):c.250G>A (p.Val84Ile) rs139595011
NM_000152.5(GAA):c.2520C>T (p.Pro840=)
NM_000152.5(GAA):c.252C>A (p.Val84=)
NM_000152.5(GAA):c.252C>T (p.Val84=) rs775079960
NM_000152.5(GAA):c.2544C>T (p.Thr848=) rs776487269
NM_000152.5(GAA):c.2550T>C (p.Gly850=)
NM_000152.5(GAA):c.2553G>C (p.Gly851=)
NM_000152.5(GAA):c.2559C>G (p.Ala853=)
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2595G>A (p.Leu865=)
NM_000152.5(GAA):c.2604G>A (p.Leu868=)
NM_000152.5(GAA):c.2608C>A (p.Arg870=)
NM_000152.5(GAA):c.2610A>G (p.Arg870=)
NM_000152.5(GAA):c.2643G>A (p.Arg881=)
NM_000152.5(GAA):c.2646+8C>A
NM_000152.5(GAA):c.2646+8del
NM_000152.5(GAA):c.2646+9T>C
NM_000152.5(GAA):c.2647-23del rs749000061
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-6G>T rs201525743
NM_000152.5(GAA):c.2647-71G>C
NM_000152.5(GAA):c.2647-8C>G
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.264C>T (p.Ser88=)
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.2655C>T (p.Ile885=) rs774840779
NM_000152.5(GAA):c.2665C>T (p.Leu889=)
NM_000152.5(GAA):c.2668G>C (p.Val890Leu) rs377286472
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041
NM_000152.5(GAA):c.2697G>T (p.Leu899=)
NM_000152.5(GAA):c.2700G>A (p.Gln900=)
NM_000152.5(GAA):c.270C>T (p.Phe90=) rs768078324
NM_000152.5(GAA):c.2712G>A (p.Val904=) rs886043848
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2721G>A (p.Leu907=)
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2739C>T (p.Pro913=) rs370765733
NM_000152.5(GAA):c.2751C>T (p.Leu917=) rs146507838
NM_000152.5(GAA):c.2754C>A (p.Ser918=) rs1598594382
NM_000152.5(GAA):c.2757C>T (p.Asn919=) rs766916186
NM_000152.5(GAA):c.2769C>A (p.Val923=) rs1272166322
NM_000152.5(GAA):c.2769C>T (p.Val923=)
NM_000152.5(GAA):c.276C>T (p.Cys92=)
NM_000152.5(GAA):c.2772C>T (p.Ser924=)
NM_000152.5(GAA):c.277G>A (p.Ala93Thr) rs142481170
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
NM_000152.5(GAA):c.2793C>T (p.Asp931=)
NM_000152.5(GAA):c.2799+10C>G rs1482012226
NM_000152.5(GAA):c.2800-10T>C
NM_000152.5(GAA):c.2800-11C>G rs374571499
NM_000152.5(GAA):c.2800-9C>G rs886053547
NM_000152.5(GAA):c.2820G>A (p.Ser940=) rs992579033
NM_000152.5(GAA):c.297C>T (p.Thr99=) rs771846178
NM_000152.5(GAA):c.300G>A (p.Gln100=)
NM_000152.5(GAA):c.303A>G (p.Glu101=)
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.36C>T (p.Leu12=) rs200548806
NM_000152.5(GAA):c.393C>G (p.Pro131=) rs769276948
NM_000152.5(GAA):c.408C>T (p.Tyr136=)
NM_000152.5(GAA):c.423G>T (p.Leu141=)
NM_000152.5(GAA):c.42C>G (p.Ala14=) rs141377453
NM_000152.5(GAA):c.42C>T (p.Ala14=)
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.456G>C (p.Leu152=)
NM_000152.5(GAA):c.471C>T (p.Pro157=)
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226
NM_000152.5(GAA):c.525T>C (p.Thr175=)
NM_000152.5(GAA):c.531C>T (p.Asn177=) rs886053544
NM_000152.5(GAA):c.543C>T (p.Phe181=)
NM_000152.5(GAA):c.546+2_546+6dup
NM_000152.5(GAA):c.546+4G>C
NM_000152.5(GAA):c.546+7A>C rs1329049814
NM_000152.5(GAA):c.546+8G>A rs200107080
NM_000152.5(GAA):c.573C>T (p.Tyr191=) rs376229714
NM_000152.5(GAA):c.583T>C (p.Leu195=)
NM_000152.5(GAA):c.594G>A (p.Pro198=)
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.603C>T (p.His201=)
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808
NM_000152.5(GAA):c.618C>G (p.Ser206=)
NM_000152.5(GAA):c.618C>T (p.Ser206=) rs146292898
NM_000152.5(GAA):c.621A>G (p.Pro207=)
NM_000152.5(GAA):c.624C>G (p.Leu208=)
NM_000152.5(GAA):c.627C>T (p.Tyr209=)
NM_000152.5(GAA):c.630C>T (p.Ser210=)
NM_000152.5(GAA):c.654C>T (p.Phe218=) rs762830719
NM_000152.5(GAA):c.663C>A (p.Ile221=)
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.676C>G (p.Leu226Val) rs113085339
NM_000152.5(GAA):c.67A>G (p.Thr23Ala) rs2289537
NM_000152.5(GAA):c.681C>T (p.Asp227=)
NM_000152.5(GAA):c.687C>T (p.Arg229=) rs149814041
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.692+17G>C rs199559553
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-10T>C
NM_000152.5(GAA):c.693-4G>A rs200088236
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.693-5C>T rs763538104
NM_000152.5(GAA):c.693-5del rs1555599563
NM_000152.5(GAA):c.69C>T (p.Thr23=) rs746351336
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511
NM_000152.5(GAA):c.708G>A (p.Val236=)
NM_000152.5(GAA):c.708G>T (p.Val236=)
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.715C>T (p.Leu239=) rs778882374
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.726G>C (p.Ala242=)
NM_000152.5(GAA):c.72T>C (p.Ala24=)
NM_000152.5(GAA):c.747C>T (p.Ser249=) rs1555599614
NM_000152.5(GAA):c.750C>T (p.Thr250=)
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.753G>A (p.Ser251=)
NM_000152.5(GAA):c.753G>T (p.Ser251=)
NM_000152.5(GAA):c.754C>T (p.Leu252=) rs1598575013
NM_000152.5(GAA):c.75A>G (p.Ala25=)
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093
NM_000152.5(GAA):c.765G>A (p.Gln255=) rs1450999199
NM_000152.5(GAA):c.780C>T (p.Leu260=) rs372614893
NM_000152.5(GAA):c.783C>A (p.Ala261=)
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178
NM_000152.5(GAA):c.78C>T (p.Leu26=)
NM_000152.5(GAA):c.792C>G (p.Leu264=)
NM_000152.5(GAA):c.798C>G (p.Pro266=) rs1598575210
NM_000152.5(GAA):c.816C>T (p.Ser272=)
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.5(GAA):c.843G>A (p.Arg281=)
NM_000152.5(GAA):c.849T>C (p.Leu283=)
NM_000152.5(GAA):c.84G>A (p.Gly28=)
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.855C>A (p.Pro285=) rs754080080
NM_000152.5(GAA):c.858+10C>A rs758283022
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+7_858+8insACCGGGC
NM_000152.5(GAA):c.858+7_858+8insAGCAGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGCAGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGCGGGTGGCGGGC rs3071247
NM_000152.5(GAA):c.858+7_858+8insAGTGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.859-4C>T
NM_000152.5(GAA):c.859-5C>T
NM_000152.5(GAA):c.859-9A>G
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.867G>A (p.Ala289=) rs534515557
NM_000152.5(GAA):c.876C>T (p.Tyr292=) rs763216519
NM_000152.5(GAA):c.879G>A (p.Gly293=)
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304
NM_000152.5(GAA):c.906G>A (p.Glu302=) rs1488323868
NM_000152.5(GAA):c.909C>T (p.Asp303=) rs752724918
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.91C>T (p.Leu31=)
NM_000152.5(GAA):c.921A>C (p.Ala307=)
NM_000152.5(GAA):c.924C>T (p.His308=) rs370105640
NM_000152.5(GAA):c.942C>T (p.Asn314=)
NM_000152.5(GAA):c.955+14C>A rs756921041
NM_000152.5(GAA):c.966G>A (p.Leu322=) rs1197362128
NM_000152.5(GAA):c.96C>G (p.Leu32=) rs1598569164
NM_000152.5(GAA):c.972G>A (p.Pro324=) rs763445243
NM_000152.5(GAA):c.972G>C (p.Pro324=)
NM_000152.5(GAA):c.993G>A (p.Arg331=) rs749831587
NM_000152.5(GAA):c.996G>A (p.Ser332=)
NM_000152.5(GAA):c.999A>G (p.Thr333=) rs1598576668
NM_000154.2(GALK1):c.*32C>T rs116845474
NM_000154.2(GALK1):c.1005G>T (p.Val335=)
NM_000154.2(GALK1):c.1011G>C (p.Gly337=)
NM_000154.2(GALK1):c.1035C>T (p.Gly345=) rs576223041
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.105G>C (p.Pro35=)
NM_000154.2(GALK1):c.1077C>T (p.Ser359=) rs376050836
NM_000154.2(GALK1):c.1089C>T (p.His363=) rs200502537
NM_000154.2(GALK1):c.10T>C (p.Leu4=)
NM_000154.2(GALK1):c.1101C>T (p.His367=) rs1436958552
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1107+7G>A
NM_000154.2(GALK1):c.1107+9G>A
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
NM_000154.2(GALK1):c.1119C>T (p.Gly373=) rs73997615
NM_000154.2(GALK1):c.1131C>T (p.Thr377=)
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
NM_000154.2(GALK1):c.1155T>C (p.Asp385=)
NM_000154.2(GALK1):c.117C>T (p.Asn39=) rs1599336904
NM_000154.2(GALK1):c.147G>A (p.Gln49=)
NM_000154.2(GALK1):c.150C>T (p.Gly50=) rs1599336859
NM_000154.2(GALK1):c.153G>T (p.Leu51=)
NM_000154.2(GALK1):c.157C>T (p.Leu53=)
NM_000154.2(GALK1):c.166-10C>T
NM_000154.2(GALK1):c.166-6dup
NM_000154.2(GALK1):c.171G>A (p.Leu57=) rs779604073
NM_000154.2(GALK1):c.187C>T (p.Leu63=) rs1555748724
NM_000154.2(GALK1):c.195C>T (p.Gly65=) rs1301639431
NM_000154.2(GALK1):c.216G>A (p.Leu72=)
NM_000154.2(GALK1):c.231C>A (p.Thr77=)
NM_000154.2(GALK1):c.255C>T (p.Pro85=)
NM_000154.2(GALK1):c.273A>G (p.Pro91=)
NM_000154.2(GALK1):c.291C>G (p.Arg97=) rs368542855
NM_000154.2(GALK1):c.294G>T (p.Ser98=) rs766656571
NM_000154.2(GALK1):c.297G>A (p.Leu99=)
NM_000154.2(GALK1):c.300G>A (p.Glu100=)
NM_000154.2(GALK1):c.30G>T (p.Ala10=) rs1174194549
NM_000154.2(GALK1):c.336A>G (p.Gly112=)
NM_000154.2(GALK1):c.345G>A (p.Gln115=)
NM_000154.2(GALK1):c.351C>T (p.Tyr117=)
NM_000154.2(GALK1):c.363C>A (p.Pro121=) rs779234943
NM_000154.2(GALK1):c.369T>C (p.Pro123=)
NM_000154.2(GALK1):c.372C>A (p.Gly124=)
NM_000154.2(GALK1):c.396A>C (p.Ser132=) rs766401384
NM_000154.2(GALK1):c.408G>A (p.Gly136=)
NM_000154.2(GALK1):c.417G>A (p.Leu139=)
NM_000154.2(GALK1):c.417G>C (p.Leu139=)
NM_000154.2(GALK1):c.42C>T (p.Ala14=)
NM_000154.2(GALK1):c.432C>T (p.Ser144=) rs150323432
NM_000154.2(GALK1):c.441G>A (p.Val147=)
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.475+7G>C
NM_000154.2(GALK1):c.489A>T (p.Ile163=)
NM_000154.2(GALK1):c.495C>T (p.Ala165=)
NM_000154.2(GALK1):c.498C>T (p.Arg166=)
NM_000154.2(GALK1):c.519C>G (p.Ala173=) rs141983398
NM_000154.2(GALK1):c.519C>T (p.Ala173=)
NM_000154.2(GALK1):c.531C>T (p.Phe177=)
NM_000154.2(GALK1):c.537G>A (p.Gly179=)
NM_000154.2(GALK1):c.573T>C (p.Leu191=)
NM_000154.2(GALK1):c.591C>T (p.His197=)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.594G>A (p.Ala198=)
NM_000154.2(GALK1):c.594G>C (p.Ala198=)
NM_000154.2(GALK1):c.60C>T (p.Phe20=) rs556192480
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.612-4C>G
NM_000154.2(GALK1):c.645C>T (p.Asp215=)
NM_000154.2(GALK1):c.654G>A (p.Leu218=)
NM_000154.2(GALK1):c.657C>T (p.Ala219=) rs754593748
NM_000154.2(GALK1):c.660G>A (p.Val220=)
NM_000154.2(GALK1):c.660G>C (p.Val220=)
NM_000154.2(GALK1):c.663C>T (p.Leu221=)
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.748C>T (p.Leu250=) rs904702679
NM_000154.2(GALK1):c.765C>T (p.Leu255=)
NM_000154.2(GALK1):c.771G>A (p.Glu257=) rs764099539
NM_000154.2(GALK1):c.780G>A (p.Leu260=)
NM_000154.2(GALK1):c.787C>T (p.Leu263=) rs886053420
NM_000154.2(GALK1):c.794-6C>T
NM_000154.2(GALK1):c.81G>A (p.Glu27=)
NM_000154.2(GALK1):c.829C>A (p.Arg277=)
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.858G>A (p.Arg286=) rs1349483506
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.876G>A (p.Ala292=)
NM_000154.2(GALK1):c.900C>T (p.Tyr300=)
NM_000154.2(GALK1):c.909T>C (p.Phe303=)
NM_000154.2(GALK1):c.915C>T (p.Arg305=)
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000154.2(GALK1):c.93C>G (p.Ala31=)
NM_000154.2(GALK1):c.93C>T (p.Ala31=)
NM_000154.2(GALK1):c.945-4G>A
NM_000154.2(GALK1):c.948C>T (p.Asp316=) rs370706611
NM_000154.2(GALK1):c.966C>T (p.Cys322=)
NM_000154.2(GALK1):c.975G>A (p.Leu325=) rs1247403138
NM_000154.2(GALK1):c.975G>T (p.Leu325=) rs1247403138
NM_000154.2(GALK1):c.982C>T (p.Leu328=)
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171
NM_000155.4(GALT):c.*147A>G rs73501024
NM_000155.4(GALT):c.*148T>C
NM_000155.4(GALT):c.1017C>T (p.Tyr339=)
NM_000155.4(GALT):c.1038G>A (p.Gln346=)
NM_000155.4(GALT):c.1059+24G>A rs111033840
NM_000155.4(GALT):c.1059+7A>C
NM_000155.4(GALT):c.1059+8C>T
NM_000155.4(GALT):c.1060-10C>T
NM_000155.4(GALT):c.1071A>G (p.Arg357=) rs1587241773
NM_000155.4(GALT):c.1077G>A (p.Arg359=) rs148967210
NM_000155.4(GALT):c.1080A>T (p.Ala360=)
NM_000155.4(GALT):c.108G>A (p.Pro36=)
NM_000155.4(GALT):c.108G>C (p.Pro36=)
NM_000155.4(GALT):c.1095T>C (p.His365=)
NM_000155.4(GALT):c.1102C>T (p.Leu368=)
NM_000155.4(GALT):c.1116C>T (p.Asp372=) rs757314660
NM_000155.4(GALT):c.1128A>G (p.Ala376=)
NM_000155.4(GALT):c.1128A>T (p.Ala376=) rs781374930
NM_000155.4(GALT):c.1135G>A (p.Ala379Thr) rs780064274
NM_000155.4(GALT):c.1139G>A (p.Ter380=)
NM_000155.4(GALT):c.153G>A (p.Arg51=)
NM_000155.4(GALT):c.174G>A (p.Glu58=)
NM_000155.4(GALT):c.183T>G (p.Leu61=)
NM_000155.4(GALT):c.18C>T (p.Thr6=)
NM_000155.4(GALT):c.192A>T (p.Thr64=)
NM_000155.4(GALT):c.210T>G (p.Pro70=)
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
NM_000155.4(GALT):c.231G>A (p.Gly77=) rs1269693119
NM_000155.4(GALT):c.252+10T>C
NM_000155.4(GALT):c.252+9G>A
NM_000155.4(GALT):c.267C>T (p.Tyr89=) rs145628307
NM_000155.4(GALT):c.270T>C (p.Asp90=)
NM_000155.4(GALT):c.291C>T (p.Asn97=) rs398123180
NM_000155.4(GALT):c.303T>C (p.Ala101=)
NM_000155.4(GALT):c.324T>C (p.Ser108=)
NM_000155.4(GALT):c.328+7T>C rs774350978
NM_000155.4(GALT):c.329-7A>T
NM_000155.4(GALT):c.329-8_329-7dup
NM_000155.4(GALT):c.363T>C (p.Ser121=)
NM_000155.4(GALT):c.366T>G (p.Ala122=)
NM_000155.4(GALT):c.377+8T>C
NM_000155.4(GALT):c.378-12G>A
NM_000155.4(GALT):c.378-4C>T
NM_000155.4(GALT):c.378-7C>T
NM_000155.4(GALT):c.378-9A>G rs371470838
NM_000155.4(GALT):c.390C>T (p.Cys130=) rs1410761611
NM_000155.4(GALT):c.396C>T (p.His132=)
NM_000155.4(GALT):c.414G>A (p.Thr138=) rs116479817
NM_000155.4(GALT):c.44C>T (p.Ser15Leu)
NM_000155.4(GALT):c.450T>A (p.Val150=) rs886063884
NM_000155.4(GALT):c.456T>C (p.Asp152=)
NM_000155.4(GALT):c.459A>G (p.Ala153=) rs141498518
NM_000155.4(GALT):c.480G>A (p.Glu160=) rs1587238612
NM_000155.4(GALT):c.498T>C (p.Pro166=) rs193922249
NM_000155.4(GALT):c.504G>A (p.Val168=)
NM_000155.4(GALT):c.507+9G>A
NM_000155.4(GALT):c.508-9A>G
NM_000155.4(GALT):c.564+7G>A rs760189807
NM_000155.4(GALT):c.564+9G>A
NM_000155.4(GALT):c.565-7T>C
NM_000155.4(GALT):c.567A>G (p.Val189=)
NM_000155.4(GALT):c.585G>T (p.Leu195=)
NM_000155.4(GALT):c.609G>A (p.Glu203=)
NM_000155.4(GALT):c.632G>C (p.Ser211Thr)
NM_000155.4(GALT):c.642A>G (p.Gly214=)
NM_000155.4(GALT):c.645G>A (p.Glu215=)
NM_000155.4(GALT):c.663C>T (p.Tyr221=)
NM_000155.4(GALT):c.669C>T (p.Arg223=)
NM_000155.4(GALT):c.678A>G (p.Leu226=) rs777577533
NM_000155.4(GALT):c.682A>C (p.Arg228=)
NM_000155.4(GALT):c.687+9G>C rs117998880
NM_000155.4(GALT):c.688-10G>A
NM_000155.4(GALT):c.688-4C>T rs374014228
NM_000155.4(GALT):c.6G>A (p.Ser2=)
NM_000155.4(GALT):c.700C>T (p.Leu234=) rs751351126
NM_000155.4(GALT):c.702A>G (p.Leu234=)
NM_000155.4(GALT):c.726G>A (p.Leu242=)
NM_000155.4(GALT):c.759A>G (p.Thr253=)
NM_000155.4(GALT):c.760C>T (p.Leu254=)
NM_000155.4(GALT):c.762G>A (p.Leu254=)
NM_000155.4(GALT):c.762G>C (p.Leu254=)
NM_000155.4(GALT):c.795T>G (p.Pro265=)
NM_000155.4(GALT):c.799C>T (p.Leu267=) rs764006034
NM_000155.4(GALT):c.82+10C>T
NM_000155.4(GALT):c.82+8C>A
NM_000155.4(GALT):c.82+8C>T rs368244179
NM_000155.4(GALT):c.820+13A>C
NM_000155.4(GALT):c.821-46G>T rs111033776
NM_000155.4(GALT):c.831C>T (p.Ser277=)
NM_000155.4(GALT):c.840G>A (p.Lys280=)
NM_000155.4(GALT):c.879C>T (p.Ser293=) rs115527942
NM_000155.4(GALT):c.904+11del
NM_000155.4(GALT):c.905-5G>A
NM_000155.4(GALT):c.919T>A (p.Ser307Thr) rs61735983
NM_000155.4(GALT):c.933C>T (p.Ala311=)
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000155.4(GALT):c.951G>A (p.Gln317=)
NM_000155.4(GALT):c.993T>C (p.Thr331=)
NM_000155.4(GALT):c.999G>C (p.Arg333=)
NM_000158.4(GBE1):c.*308C>T rs141214861
NM_000158.4(GBE1):c.-101C>T rs886058903
NM_000158.4(GBE1):c.-102C>T
NM_000158.4(GBE1):c.1011C>T (p.Phe337=) rs916259056
NM_000158.4(GBE1):c.1038G>A (p.Leu346=)
NM_000158.4(GBE1):c.105C>T (p.Asp35=)
NM_000158.4(GBE1):c.1074T>C (p.Gly358=)
NM_000158.4(GBE1):c.1080G>A (p.Thr360=) rs200645261
NM_000158.4(GBE1):c.108G>A (p.Pro36=) rs775188750
NM_000158.4(GBE1):c.1108+8A>T
NM_000158.4(GBE1):c.1108+8del
NM_000158.4(GBE1):c.1110T>C (p.Gly370=)
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1143C>T (p.Phe381=)
NM_000158.4(GBE1):c.114G>A (p.Leu38=)
NM_000158.4(GBE1):c.1167C>T (p.Ala389=)
NM_000158.4(GBE1):c.1173T>G (p.Thr391=)
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) rs35196441
NM_000158.4(GBE1):c.1200T>C (p.Val400=) rs1464112150
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1209G>A (p.Leu403=)
NM_000158.4(GBE1):c.1215C>T (p.Pro405=)
NM_000158.4(GBE1):c.1242A>G (p.Val414=)
NM_000158.4(GBE1):c.1284G>A (p.Gly428=)
NM_000158.4(GBE1):c.12G>A (p.Pro4=)
NM_000158.4(GBE1):c.12G>C (p.Pro4=)
NM_000158.4(GBE1):c.1302A>G (p.Arg434=)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.135C>T (p.Phe45=)
NM_000158.4(GBE1):c.1362C>T (p.Asp454=)
NM_000158.4(GBE1):c.1374C>T (p.Gly458=)
NM_000158.4(GBE1):c.1389G>A (p.Thr463=) rs757933285
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.143+9G>A rs1267149365
NM_000158.4(GBE1):c.1447-4G>C
NM_000158.4(GBE1):c.1467G>A (p.Ser489=)
NM_000158.4(GBE1):c.1470G>A (p.Leu490=)
NM_000158.4(GBE1):c.1473A>G (p.Ala491=)
NM_000158.4(GBE1):c.1512T>C (p.Ser504=)
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1522C>G (p.Pro508Ala)
NM_000158.4(GBE1):c.1569T>C (p.Ile523=)
NM_000158.4(GBE1):c.1581G>A (p.Thr527=) rs140571802
NM_000158.4(GBE1):c.159C>T (p.Ser53=)
NM_000158.4(GBE1):c.15G>A (p.Met5Ile) rs62267114
NM_000158.4(GBE1):c.1619-9G>A
NM_000158.4(GBE1):c.1635T>C (p.His545=) rs780741533
NM_000158.4(GBE1):c.1638T>C (p.Pro546=)
NM_000158.4(GBE1):c.1650C>T (p.Asp550=)
NM_000158.4(GBE1):c.170A>G (p.Lys57Arg) rs544821452
NM_000158.4(GBE1):c.1713C>T (p.Asp571=) rs373148836
NM_000158.4(GBE1):c.1719C>T (p.Asp573=)
NM_000158.4(GBE1):c.1722T>C (p.Leu574=) rs367905308
NM_000158.4(GBE1):c.1770G>A (p.Leu590=)
NM_000158.4(GBE1):c.1806C>A (p.Ala602=)
NM_000158.4(GBE1):c.1809C>T (p.Tyr603=)
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
NM_000158.4(GBE1):c.1860T>C (p.Gly620=)
NM_000158.4(GBE1):c.1902T>C (p.Thr634=)
NM_000158.4(GBE1):c.1917A>G (p.Gly639=)
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
NM_000158.4(GBE1):c.1935-10A>G
NM_000158.4(GBE1):c.1935-7G>T rs1474858058
NM_000158.4(GBE1):c.195T>C (p.Gly65=)
NM_000158.4(GBE1):c.1960G>A (p.Ala654Thr)
NM_000158.4(GBE1):c.1964C>T (p.Ala655Val)
NM_000158.4(GBE1):c.1965G>A (p.Ala655=)
NM_000158.4(GBE1):c.1989G>A (p.Leu663=)
NM_000158.4(GBE1):c.1995C>T (p.His665=) rs201515305
NM_000158.4(GBE1):c.2001T>A (p.Thr667=)
NM_000158.4(GBE1):c.2004C>T (p.Asp668=)
NM_000158.4(GBE1):c.2028T>C (p.His676=)
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.2053-3351G>A
NM_000158.4(GBE1):c.2053-4G>C
NM_000158.4(GBE1):c.2058C>T (p.Tyr686=)
NM_000158.4(GBE1):c.2067C>T (p.Ser689=)
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.2088G>A (p.Gln696=)
NM_000158.4(GBE1):c.2103G>A (p.Pro701=) rs775617188
NM_000158.4(GBE1):c.211A>C (p.Arg71=) rs1576206635
NM_000158.4(GBE1):c.231C>T (p.Gly77=) rs375359843
NM_000158.4(GBE1):c.24G>A (p.Ala8=) rs28763906
NM_000158.4(GBE1):c.270A>G (p.Glu90=)
NM_000158.4(GBE1):c.279G>A (p.Pro93=)
NM_000158.4(GBE1):c.313+8C>G
NM_000158.4(GBE1):c.313+9T>C rs772444966
NM_000158.4(GBE1):c.314-8T>A
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>C (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.333G>T (p.Ser111=)
NM_000158.4(GBE1):c.33C>G (p.Pro11=) rs773585404
NM_000158.4(GBE1):c.346A>G (p.Lys116Glu) rs377305989
NM_000158.4(GBE1):c.350T>C (p.Leu117Pro) rs186942296
NM_000158.4(GBE1):c.351G>T (p.Leu117=) rs749666538
NM_000158.4(GBE1):c.369G>A (p.Glu123=)
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.432A>G (p.Val144=)
NM_000158.4(GBE1):c.450C>T (p.Ser150=)
NM_000158.4(GBE1):c.453A>G (p.Gly151=)
NM_000158.4(GBE1):c.45G>A (p.Glu15=) rs370326965
NM_000158.4(GBE1):c.465T>C (p.Tyr155=)
NM_000158.4(GBE1):c.477G>A (p.Pro159=)
NM_000158.4(GBE1):c.483A>C (p.Ala161=)
NM_000158.4(GBE1):c.492G>A (p.Val164=)
NM_000158.4(GBE1):c.552T>C (p.Tyr184=) rs1576185089
NM_000158.4(GBE1):c.556-4G>A
NM_000158.4(GBE1):c.556-6C>T
NM_000158.4(GBE1):c.556-9A>G
NM_000158.4(GBE1):c.576G>A (p.Lys192=)
NM_000158.4(GBE1):c.609T>C (p.His203=)
NM_000158.4(GBE1):c.627T>C (p.His209=)
NM_000158.4(GBE1):c.640G>A (p.Ala214Thr) rs201166587
NM_000158.4(GBE1):c.648T>C (p.Tyr216=) rs1295929595
NM_000158.4(GBE1):c.64C>T (p.Leu22=)
NM_000158.4(GBE1):c.669A>G (p.Val223=)
NM_000158.4(GBE1):c.75G>A (p.Val25=)
NM_000158.4(GBE1):c.768C>T (p.Phe256=)
NM_000158.4(GBE1):c.789T>C (p.Tyr263=)
NM_000158.4(GBE1):c.78C>G (p.Pro26=) rs1575782131
NM_000158.4(GBE1):c.792A>G (p.Gly264=)
NM_000158.4(GBE1):c.807A>G (p.Leu269=) rs760271506
NM_000158.4(GBE1):c.822C>T (p.Asp274=)
NM_000158.4(GBE1):c.825A>T (p.Thr275=)
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000158.4(GBE1):c.846A>C (p.Ile282=)
NM_000158.4(GBE1):c.84G>A (p.Leu28=)
NM_000158.4(GBE1):c.91C>T (p.Leu31Phe)
NM_000158.4(GBE1):c.924C>T (p.Ser308=) rs765783805
NM_000158.4(GBE1):c.942A>G (p.Gly314=)
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.987C>T (p.Tyr329=) rs573055138
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644
NM_000158.4(GBE1):c.992+8C>T
NM_000158.4(GBE1):c.993-9A>T
NM_000162.5(GCK):c.*297T>G rs527259972
NM_000162.5(GCK):c.*356G>A rs146107173
NM_000162.5(GCK):c.*510C>T rs141645300
NM_000162.5(GCK):c.*735C>A rs556996030
NM_000162.5(GCK):c.*847G>A rs76374134
NM_000162.5(GCK):c.*92C>A rs557990162
NM_000162.5(GCK):c.-215A>G
NM_000162.5(GCK):c.-452G>A rs187173652
NM_000162.5(GCK):c.208+11G>A rs77440690
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000181.3(GUSB):c.-50C>T rs201504866
NM_000181.3(GUSB):c.-72G>T rs2279904
NM_000181.4(GUSB):c.1020G>A (p.Gly340=) rs372851133
NM_000181.4(GUSB):c.1023A>G (p.Lys341=) rs774381911
NM_000181.4(GUSB):c.105G>C (p.Ser35=)
NM_000181.4(GUSB):c.1062G>A (p.Ala354=) rs554759648
NM_000181.4(GUSB):c.1066-5C>T rs376501876
NM_000181.4(GUSB):c.1137C>T (p.Asn379=)
NM_000181.4(GUSB):c.1240C>T (p.Leu414=) rs150686327
NM_000181.4(GUSB):c.1245-15C>T rs62470935
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro) rs190496263
NM_000181.4(GUSB):c.1402G>A (p.Ala468Thr) rs752854143
NM_000181.4(GUSB):c.147C>T (p.Ala49=)
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1789+9C>T rs545446158
NM_000181.4(GUSB):c.1790-4G>T rs879010457
NM_000181.4(GUSB):c.1857G>A (p.Ala619=)
NM_000181.4(GUSB):c.1929A>G (p.Gln643=)
NM_000181.4(GUSB):c.211-7T>C
NM_000181.4(GUSB):c.211-8C>G rs2293340
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611
NM_000181.4(GUSB):c.447C>T (p.Phe149=)
NM_000181.4(GUSB):c.453C>G (p.Ala151=) rs144397476
NM_000181.4(GUSB):c.456C>T (p.Asp152=)
NM_000181.4(GUSB):c.466C>T (p.Leu156=)
NM_000181.4(GUSB):c.510C>T (p.Ile170=) rs752674900
NM_000181.4(GUSB):c.54C>T (p.Gly18=) rs759514074
NM_000181.4(GUSB):c.552G>A (p.Gly184=)
NM_000181.4(GUSB):c.669A>T (p.Thr223=) rs201178083
NM_000181.4(GUSB):c.684C>A (p.Ile228=) rs375590538
NM_000181.4(GUSB):c.684C>T (p.Ile228=)
NM_000181.4(GUSB):c.807C>T (p.Val269=) rs571704452
NM_000181.4(GUSB):c.933G>A (p.Thr311=)
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser) rs561880652
NM_000199.5(SGSH):c.1008T>C (p.Phe336=)
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1050G>A (p.Pro350=) rs373992449
NM_000199.5(SGSH):c.1053G>A (p.Ala351=)
NM_000199.5(SGSH):c.1062C>T (p.Ala354=) rs150750383
NM_000199.5(SGSH):c.1068C>G (p.Pro356=)
NM_000199.5(SGSH):c.1080C>T (p.Thr360=)
NM_000199.5(SGSH):c.1083C>G (p.Val361=)
NM_000199.5(SGSH):c.1095G>A (p.Gln365=)
NM_000199.5(SGSH):c.1104C>T (p.His368=) rs111800668
NM_000199.5(SGSH):c.1134C>T (p.Ser378=) rs771257931
NM_000199.5(SGSH):c.1140G>A (p.Gln380=)
NM_000199.5(SGSH):c.1149C>T (p.His383=)
NM_000199.5(SGSH):c.1158C>T (p.Leu386=)
NM_000199.5(SGSH):c.117G>A (p.Ala39=) rs201132655
NM_000199.5(SGSH):c.117G>T (p.Ala39=)
NM_000199.5(SGSH):c.1185C>T (p.Pro395=)
NM_000199.5(SGSH):c.1194C>T (p.Ile398=) rs759758209
NM_000199.5(SGSH):c.1197C>T (p.Asp399=)
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=) rs115750405
NM_000199.5(SGSH):c.1210G>A (p.Val404Ile) rs191465934
NM_000199.5(SGSH):c.1215A>C (p.Ser405=)
NM_000199.5(SGSH):c.1221C>T (p.Thr407=) rs1598738043
NM_000199.5(SGSH):c.1251T>C (p.Ala417=)
NM_000199.5(SGSH):c.1253G>A (p.Gly418Asp)
NM_000199.5(SGSH):c.1263G>A (p.Thr421=)
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.129C>T (p.Ser43=)
NM_000199.5(SGSH):c.12C>A (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>G (p.Pro4=) rs921772690
NM_000199.5(SGSH):c.12C>T (p.Pro4=)
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699
NM_000199.5(SGSH):c.1320C>T (p.Asp440=)
NM_000199.5(SGSH):c.1323G>C (p.Arg441=) rs202209795
NM_000199.5(SGSH):c.1337A>G (p.His446Arg) rs148876719
NM_000199.5(SGSH):c.1338C>T (p.His446=) rs762208419
NM_000199.5(SGSH):c.1356C>T (p.Ala452=)
NM_000199.5(SGSH):c.1359C>T (p.Thr453=)
NM_000199.5(SGSH):c.135C>T (p.Ile45=)
NM_000199.5(SGSH):c.1365G>A (p.Pro455=)
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
NM_000199.5(SGSH):c.1380T>A (p.Leu460=)
NM_000199.5(SGSH):c.1383G>A (p.Leu461=)
NM_000199.5(SGSH):c.1386G>A (p.Glu462=)
NM_000199.5(SGSH):c.1395G>C (p.Arg465=)
NM_000199.5(SGSH):c.1410G>A (p.Lys470=)
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1440G>A (p.Val480=)
NM_000199.5(SGSH):c.1443C>T (p.Cys481=) rs747742566
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.1449C>T (p.Pro483=) rs779836312
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.144G>T (p.Pro48=)
NM_000199.5(SGSH):c.1452C>T (p.Asp484=) rs763360021
NM_000199.5(SGSH):c.1458C>T (p.Val486=)
NM_000199.5(SGSH):c.1467G>A (p.Glu489=)
NM_000199.5(SGSH):c.1473C>G (p.Leu491=)
NM_000199.5(SGSH):c.1500T>C (p.Asn500=)
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
NM_000199.5(SGSH):c.154G>A (p.Ala52Thr)
NM_000199.5(SGSH):c.15G>C (p.Val5=)
NM_000199.5(SGSH):c.15G>T (p.Val5=)
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.195C>T (p.Thr65=)
NM_000199.5(SGSH):c.222C>T (p.Arg74=) rs768056322
NM_000199.5(SGSH):c.241C>T (p.Leu81=)
NM_000199.5(SGSH):c.24C>T (p.Cys8=)
NM_000199.5(SGSH):c.250-10T>C
NM_000199.5(SGSH):c.250-8G>T
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
NM_000199.5(SGSH):c.282C>T (p.Asp94=) rs748857638
NM_000199.5(SGSH):c.324G>A (p.Pro108=) rs147938702
NM_000199.5(SGSH):c.330G>A (p.Leu110=)
NM_000199.5(SGSH):c.355+9C>T
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.356-7C>T rs372328165
NM_000199.5(SGSH):c.363C>T (p.Ile121=)
NM_000199.5(SGSH):c.36G>C (p.Leu12=)
NM_000199.5(SGSH):c.375C>T (p.His125=)
NM_000199.5(SGSH):c.37C>T (p.Leu13=)
NM_000199.5(SGSH):c.384G>A (p.Pro128=)
NM_000199.5(SGSH):c.390C>G (p.Thr130=)
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.397C>A (p.Pro133Thr) rs199643693
NM_000199.5(SGSH):c.399G>A (p.Pro133=)
NM_000199.5(SGSH):c.410C>T (p.Ala137Val)
NM_000199.5(SGSH):c.417G>C (p.Thr139=)
NM_000199.5(SGSH):c.42C>T (p.Val14=) rs1598772270
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.435C>T (p.Val145=)
NM_000199.5(SGSH):c.474C>T (p.Leu158=)
NM_000199.5(SGSH):c.480G>T (p.Arg160=)
NM_000199.5(SGSH):c.486C>T (p.Phe162=)
NM_000199.5(SGSH):c.506+10G>A rs549782167
NM_000199.5(SGSH):c.506+9C>G
NM_000199.5(SGSH):c.506+9C>T rs376523398
NM_000199.5(SGSH):c.507-10del
NM_000199.5(SGSH):c.507-6G>A rs751165124
NM_000199.5(SGSH):c.507-7C>T rs200965114
NM_000199.5(SGSH):c.525C>T (p.Val175=)
NM_000199.5(SGSH):c.534C>T (p.His178=) rs139484283
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037
NM_000199.5(SGSH):c.540C>A (p.Pro180=) rs749721134
NM_000199.5(SGSH):c.555C>T (p.His185=)
NM_000199.5(SGSH):c.558C>T (p.Ser186=)
NM_000199.5(SGSH):c.564C>G (p.Pro188=)
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
NM_000199.5(SGSH):c.597C>T (p.Asn199=)
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805
NM_000199.5(SGSH):c.633C>T (p.Thr211=)
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187
NM_000199.5(SGSH):c.641C>A (p.Ala214Asp) rs74000629
NM_000199.5(SGSH):c.645C>T (p.Tyr215=)
NM_000199.5(SGSH):c.657C>T (p.Asp219=) rs756315850
NM_000199.5(SGSH):c.658G>T (p.Val220Leu) rs150508741
NM_000199.5(SGSH):c.660G>C (p.Val220=)
NM_000199.5(SGSH):c.663+10C>T
NM_000199.5(SGSH):c.663+7C>T
NM_000199.5(SGSH):c.664-10C>T rs776319554
NM_000199.5(SGSH):c.664-7G>A
NM_000199.5(SGSH):c.66C>G (p.Pro22=)
NM_000199.5(SGSH):c.672C>T (p.Tyr224=)
NM_000199.5(SGSH):c.684C>T (p.Asn228=) rs562717448
NM_000199.5(SGSH):c.687C>A (p.Thr229=) rs778017231
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087
NM_000199.5(SGSH):c.711C>T (p.Ala237=)
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
NM_000199.5(SGSH):c.726C>A (p.Thr242=)
NM_000199.5(SGSH):c.729C>T (p.Val243=)
NM_000199.5(SGSH):c.732C>A (p.Gly244=)
NM_000199.5(SGSH):c.745+9G>A
NM_000199.5(SGSH):c.746-5C>T
NM_000199.5(SGSH):c.759G>C (p.Val253=)
NM_000199.5(SGSH):c.75A>C (p.Ala25=) rs1262969566
NM_000199.5(SGSH):c.75A>G (p.Ala25=)
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.799C>T (p.Leu267=) rs1182273458
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466
NM_000199.5(SGSH):c.816C>T (p.Ser272=) rs200485062
NM_000199.5(SGSH):c.822C>T (p.Asn274=)
NM_000199.5(SGSH):c.840C>T (p.Ser280=) rs146904798
NM_000199.5(SGSH):c.84C>T (p.Leu28=)
NM_000199.5(SGSH):c.852C>T (p.Asn284=)
NM_000199.5(SGSH):c.864G>A (p.Pro288=) rs573496328
NM_000199.5(SGSH):c.88+8C>T rs75720127
NM_000199.5(SGSH):c.88+9C>G
NM_000199.5(SGSH):c.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.89-5C>T rs755694982
NM_000199.5(SGSH):c.89-8T>G
NM_000199.5(SGSH):c.89-9C>T
NM_000199.5(SGSH):c.909A>G (p.Lys303=) rs746617014
NM_000199.5(SGSH):c.933C>T (p.Ala311=)
NM_000199.5(SGSH):c.936C>T (p.Tyr312=) rs147716878
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788
NM_000199.5(SGSH):c.942C>T (p.Ser314=) rs759810426
NM_000199.5(SGSH):c.949+7C>T
NM_000199.5(SGSH):c.950-9C>T
NM_000199.5(SGSH):c.957G>A (p.Thr319=)
NM_000199.5(SGSH):c.96C>T (p.Asp32=) rs139850991
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
NM_000199.5(SGSH):c.987G>A (p.Pro329=)
NM_000199.5(SGSH):c.993C>T (p.Pro331=) rs934982826
NM_000199.5(SGSH):c.996C>T (p.Ser332=)
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346
NM_000199.5(SGSH):c.9C>T (p.Cys3=)
NM_000202.8(IDS):c.1006+8T>C rs782781942
NM_000202.8(IDS):c.1007-4C>T
NM_000202.8(IDS):c.1007-9A>G
NM_000202.8(IDS):c.103+6G>A
NM_000202.8(IDS):c.104-4G>A
NM_000202.8(IDS):c.104-9C>G
NM_000202.8(IDS):c.1047C>T (p.Ser349=)
NM_000202.8(IDS):c.1085A>G (p.Tyr362Cys)
NM_000202.8(IDS):c.108T>G (p.Ala36=)
NM_000202.8(IDS):c.1100C>T (p.Thr367Met)
NM_000202.8(IDS):c.1112C>T (p.Pro371Leu) rs782471629
NM_000202.8(IDS):c.1113G>T (p.Pro371=) rs146615651
NM_000202.8(IDS):c.1122C>A (p.Gly374=)
NM_000202.8(IDS):c.1164A>G (p.Ser388=)
NM_000202.8(IDS):c.1180+7A>C
NM_000202.8(IDS):c.1248G>A (p.Leu416=) rs1306764023
NM_000202.8(IDS):c.1257A>G (p.Pro419=)
NM_000202.8(IDS):c.1284C>T (p.His428=) rs782163574
NM_000202.8(IDS):c.1293G>A (p.Leu431=) rs782203657
NM_000202.8(IDS):c.129C>T (p.Ile43=)
NM_000202.8(IDS):c.1353G>A (p.Pro451=)
NM_000202.8(IDS):c.1353G>C (p.Pro451=)
NM_000202.8(IDS):c.1372C>T (p.Arg458Cys) rs782340858
NM_000202.8(IDS):c.1395G>A (p.Gln465=)
NM_000202.8(IDS):c.1416C>T (p.Ile472=)
NM_000202.8(IDS):c.1422G>A (p.Gln474=)
NM_000202.8(IDS):c.147C>T (p.Pro49=)
NM_000202.8(IDS):c.1482C>T (p.Thr494=)
NM_000202.8(IDS):c.1500T>C (p.Thr500=) rs1602725629
NM_000202.8(IDS):c.151C>T (p.Leu51=)
NM_000202.8(IDS):c.1536T>A (p.Ala512=)
NM_000202.8(IDS):c.1536T>C (p.Ala512=)
NM_000202.8(IDS):c.1560G>A (p.Gly520=)
NM_000202.8(IDS):c.156C>T (p.Gly52=)
NM_000202.8(IDS):c.1584C>T (p.Asp528=)
NM_000202.8(IDS):c.1608T>C (p.Tyr536=)
NM_000202.8(IDS):c.1623T>G (p.Gly541=)
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021
NM_000202.8(IDS):c.1642T>C (p.Leu548=)
NM_000202.8(IDS):c.183C>T (p.Ser61=)
NM_000202.8(IDS):c.189T>C (p.Asn63=)
NM_000202.8(IDS):c.18C>T (p.Thr6=)
NM_000202.8(IDS):c.231C>T (p.Ala77=) rs1602749217
NM_000202.8(IDS):c.237G>A (p.Ala79=) rs782183418
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858
NM_000202.8(IDS):c.240+7C>T
NM_000202.8(IDS):c.241-7C>T
NM_000202.8(IDS):c.246A>G (p.Ala82=)
NM_000202.8(IDS):c.252C>T (p.Cys84=)
NM_000202.8(IDS):c.285G>A (p.Arg95=)
NM_000202.8(IDS):c.300C>T (p.Thr100=)
NM_000202.8(IDS):c.309C>T (p.Tyr103=)
NM_000202.8(IDS):c.315C>T (p.Phe105=)
NM_000202.8(IDS):c.333G>T (p.Val111=)
NM_000202.8(IDS):c.336C>T (p.His112=) rs138687038
NM_000202.8(IDS):c.357C>T (p.Ile119=) rs782362742
NM_000202.8(IDS):c.414C>T (p.His138=) rs1602748259
NM_000202.8(IDS):c.419-10T>G rs782082376
NM_000202.8(IDS):c.419-6T>C
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132
NM_000202.8(IDS):c.450G>T (p.Pro150=)
NM_000202.8(IDS):c.465T>C (p.Phe155=)
NM_000202.8(IDS):c.477T>C (p.His159=)
NM_000202.8(IDS):c.480T>A (p.Pro160=)
NM_000202.8(IDS):c.49C>T (p.Leu17=)
NM_000202.8(IDS):c.504T>A (p.Thr168=)
NM_000202.8(IDS):c.507+6G>T rs370769925
NM_000202.8(IDS):c.507+7C>T
NM_000202.8(IDS):c.508-5G>T
NM_000202.8(IDS):c.51G>C (p.Leu17=)
NM_000202.8(IDS):c.534C>T (p.Leu178=)
NM_000202.8(IDS):c.540C>T (p.Ala180=)
NM_000202.8(IDS):c.576C>T (p.Pro192=)
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.642G>A (p.Thr214=)
NM_000202.8(IDS):c.669T>G (p.Val223=)
NM_000202.8(IDS):c.693C>T (p.Pro231=)
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858
NM_000202.8(IDS):c.69C>T (p.Ala23=) rs1602750461
NM_000202.8(IDS):c.717G>A (p.Gln239=)
NM_000202.8(IDS):c.759C>G (p.Pro253=)
NM_000202.8(IDS):c.760G>A (p.Glu254Lys) rs374066256
NM_000202.8(IDS):c.777A>T (p.Leu259=) rs782773319
NM_000202.8(IDS):c.807C>T (p.Asp269=)
NM_000202.8(IDS):c.852G>A (p.Pro284=)
NM_000202.8(IDS):c.879+10A>G
NM_000202.8(IDS):c.880-5del
NM_000202.8(IDS):c.889C>T (p.Arg297Cys)
NM_000202.8(IDS):c.918T>C (p.Tyr306=)
NM_000202.8(IDS):c.929A>G (p.Gln310Arg)
NM_000202.8(IDS):c.933C>T (p.Val311=)
NM_000202.8(IDS):c.955G>A (p.Asp319Asn)
NM_000202.8(IDS):c.97A>T (p.Thr33Ser) rs782158763
NM_000202.8(IDS):c.982A>G (p.Ile328Val)
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1011C>T (p.Thr337=)
NM_000203.5(IDUA):c.1014C>T (p.Thr338=)
NM_000203.5(IDUA):c.1029C>T (p.Tyr343=)
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.1032G>A (p.Ala344=)
NM_000203.5(IDUA):c.1035C>G (p.Leu345=) rs374216702
NM_000203.5(IDUA):c.1041C>T (p.Ser347=)
NM_000203.5(IDUA):c.1050T>C (p.Asn350=)
NM_000203.5(IDUA):c.1053C>G (p.Ala351=)
NM_000203.5(IDUA):c.1053C>T (p.Ala351=)
NM_000203.5(IDUA):c.1056C>T (p.Phe352=) rs776110061
NM_000203.5(IDUA):c.1068C>T (p.His356=) rs1577541175
NM_000203.5(IDUA):c.1083G>A (p.Ala361=) rs1553917295
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1101G>T (p.Ala367=)
NM_000203.5(IDUA):c.1113C>A (p.Val371=)
NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr) rs140564189
NM_000203.5(IDUA):c.1128G>A (p.Pro376=)
NM_000203.5(IDUA):c.1143G>A (p.Leu381=)
NM_000203.5(IDUA):c.1144T>C (p.Leu382=)
NM_000203.5(IDUA):c.1152G>A (p.Lys384=)
NM_000203.5(IDUA):c.1161C>T (p.Leu387=) rs1553917312
NM_000203.5(IDUA):c.1164G>A (p.Thr388=) rs6836258
NM_000203.5(IDUA):c.1164G>T (p.Thr388=)
NM_000203.5(IDUA):c.1167C>T (p.Ala389=)
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1185G>A (p.Leu395=) rs1355543480
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273
NM_000203.5(IDUA):c.1189+7C>T
NM_000203.5(IDUA):c.1190-10C>T
NM_000203.5(IDUA):c.1190-4G>A
NM_000203.5(IDUA):c.1190-7C>T
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.1209C>G (p.Ala403=)
NM_000203.5(IDUA):c.1218G>A (p.Ser406=)
NM_000203.5(IDUA):c.1224C>T (p.Ala408=) rs774488302
NM_000203.5(IDUA):c.1225G>A (p.Gly409Arg)
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1230C>A (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1230C>T (p.Thr410=)
NM_000203.5(IDUA):c.1236G>C (p.Leu412=)
NM_000203.5(IDUA):c.1260C>T (p.Val420=)
NM_000203.5(IDUA):c.1269C>T (p.Ser423=)
NM_000203.5(IDUA):c.1278C>T (p.Arg426=) rs890691785
NM_000203.5(IDUA):c.127C>T (p.Leu43=)
NM_000203.5(IDUA):c.1293C>A (p.Ala431=)
NM_000203.5(IDUA):c.1293C>G (p.Ala431=)
NM_000203.5(IDUA):c.1293C>T (p.Ala431=) rs559676638
NM_000203.5(IDUA):c.1305C>A (p.Arg435=)
NM_000203.5(IDUA):c.1311G>C (p.Ala437=)
NM_000203.5(IDUA):c.1323C>T (p.Tyr441=) rs1463087550
NM_000203.5(IDUA):c.1326G>A (p.Ala442=)
NM_000203.5(IDUA):c.1362C>A (p.Val454=)
NM_000203.5(IDUA):c.1362C>G (p.Val454=)
NM_000203.5(IDUA):c.1365G>C (p.Ala455=)
NM_000203.5(IDUA):c.1368G>A (p.Val456=)
NM_000203.5(IDUA):c.1371C>T (p.Thr457=)
NM_000203.5(IDUA):c.1386G>A (p.Gly462=)
NM_000203.5(IDUA):c.1389G>A (p.Val463=)
NM_000203.5(IDUA):c.138C>T (p.Phe46=)
NM_000203.5(IDUA):c.1395C>T (p.Pro465=)
NM_000203.5(IDUA):c.1402+8G>A
NM_000203.5(IDUA):c.1402+9G>T
NM_000203.5(IDUA):c.1425C>T (p.Tyr475=) rs370257928
NM_000203.5(IDUA):c.1437G>A (p.Gly479=)
NM_000203.5(IDUA):c.1437G>T (p.Gly479=)
NM_000203.5(IDUA):c.1440C>G (p.Leu480=)
NM_000203.5(IDUA):c.1440C>T (p.Leu480=)
NM_000203.5(IDUA):c.1449C>T (p.Pro483=)
NM_000203.5(IDUA):c.1452C>T (p.Asp484=)
NM_000203.5(IDUA):c.1462C>A (p.Arg488=)
NM_000203.5(IDUA):c.1467C>G (p.Arg489=)
NM_000203.5(IDUA):c.1479C>G (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1482C>G (p.Val494=) rs999890083
NM_000203.5(IDUA):c.1491G>C (p.Thr497=)
NM_000203.5(IDUA):c.1491G>T (p.Thr497=) rs374102243
NM_000203.5(IDUA):c.1518G>C (p.Ala506=)
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1525-4C>G
NM_000203.5(IDUA):c.1525-5C>T
NM_000203.5(IDUA):c.1525-6G>C
NM_000203.5(IDUA):c.1536C>T (p.Ala512=) rs1392263774
NM_000203.5(IDUA):c.1551C>G (p.Pro517=)
NM_000203.5(IDUA):c.1551C>T (p.Pro517=)
NM_000203.5(IDUA):c.1563C>T (p.Gly521=)
NM_000203.5(IDUA):c.1566C>T (p.Gly522=)
NM_000203.5(IDUA):c.1570C>T (p.Leu524=) rs1022872293
NM_000203.5(IDUA):c.1575C>T (p.Thr525=)
NM_000203.5(IDUA):c.158+7G>T
NM_000203.5(IDUA):c.158+8C>T
NM_000203.5(IDUA):c.1584C>T (p.Pro528=) rs1553917553
NM_000203.5(IDUA):c.1587G>T (p.Ala529=) rs773184536
NM_000203.5(IDUA):c.1588C>T (p.Leu530=)
NM_000203.5(IDUA):c.159-6C>T
NM_000203.5(IDUA):c.159-8G>A
NM_000203.5(IDUA):c.1596G>A (p.Leu532=)
NM_000203.5(IDUA):c.1599G>A (p.Pro533=)
NM_000203.5(IDUA):c.1609C>T (p.Leu537=)
NM_000203.5(IDUA):c.1617C>T (p.His539=) rs774854847
NM_000203.5(IDUA):c.1632C>G (p.Pro544=)
NM_000203.5(IDUA):c.1641G>A (p.Pro547=)
NM_000203.5(IDUA):c.1641G>T (p.Pro547=)
NM_000203.5(IDUA):c.1647G>A (p.Gly549=)
NM_000203.5(IDUA):c.1650+10A>G
NM_000203.5(IDUA):c.1650+8G>A
NM_000203.5(IDUA):c.1651-6C>T
NM_000203.5(IDUA):c.1651-7C>T
NM_000203.5(IDUA):c.1651-7_1651-3dup
NM_000203.5(IDUA):c.1651-9C>T
NM_000203.5(IDUA):c.165G>A (p.Pro55=)
NM_000203.5(IDUA):c.1665C>T (p.Arg555=)
NM_000203.5(IDUA):c.1674C>A (p.Pro558=)
NM_000203.5(IDUA):c.1675C>T (p.Leu559=)
NM_000203.5(IDUA):c.1686G>C (p.Gly562=)
NM_000203.5(IDUA):c.1692G>C (p.Leu564=)
NM_000203.5(IDUA):c.1695T>C (p.Val565=) rs1577544372
NM_000203.5(IDUA):c.1696C>T (p.Leu566=)
NM_000203.5(IDUA):c.1722C>T (p.Gly574=)
NM_000203.5(IDUA):c.1727+7G>A
NM_000203.5(IDUA):c.1727+9G>A
NM_000203.5(IDUA):c.1727+9G>T
NM_000203.5(IDUA):c.1728-3dup
NM_000203.5(IDUA):c.1728-8C>T
NM_000203.5(IDUA):c.1728-9C>T rs374775605
NM_000203.5(IDUA):c.1734G>C (p.Leu578=)
NM_000203.5(IDUA):c.1740A>T (p.Thr580=) rs1577545150
NM_000203.5(IDUA):c.1758T>C (p.Ser586=)
NM_000203.5(IDUA):c.1761G>A (p.Gln587=)
NM_000203.5(IDUA):c.1764C>T (p.Asp588=)
NM_000203.5(IDUA):c.1767T>A (p.Gly589=)
NM_000203.5(IDUA):c.1770G>A (p.Lys590=)
NM_000203.5(IDUA):c.1776C>T (p.Tyr592=)
NM_000203.5(IDUA):c.1782G>A (p.Pro594=)
NM_000203.5(IDUA):c.1785C>T (p.Val595=) rs748579220
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.1821C>T (p.Phe607=)
NM_000203.5(IDUA):c.1828+10C>G
NM_000203.5(IDUA):c.1829-4C>G
NM_000203.5(IDUA):c.1829-6C>T
NM_000203.5(IDUA):c.1848C>T (p.Gly616=)
NM_000203.5(IDUA):c.1856G>A (p.Arg619Gln) rs372137794
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
NM_000203.5(IDUA):c.1872C>T (p.Asp624=)
NM_000203.5(IDUA):c.1911G>A (p.Pro637=) rs780005721
NM_000203.5(IDUA):c.1914C>T (p.Tyr638=)
NM_000203.5(IDUA):c.1923C>G (p.Val641=)
NM_000203.5(IDUA):c.1929G>A (p.Val643=)
NM_000203.5(IDUA):c.192C>T (p.Tyr64=)
NM_000203.5(IDUA):c.1950G>T (p.Pro650=) rs112884255
NM_000203.5(IDUA):c.1959A>T (p.Pro653=) rs1264323702
NM_000203.5(IDUA):c.198C>G (p.Leu66=) rs773925781
NM_000203.5(IDUA):c.216C>G (p.Leu72=) rs1174720330
NM_000203.5(IDUA):c.21C>A (p.Arg7=)
NM_000203.5(IDUA):c.222C>T (p.Leu74=)
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
NM_000203.5(IDUA):c.240C>G (p.Val80=)
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.249C>A (p.Arg83=)
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser) rs564306004
NM_000203.5(IDUA):c.255C>T (p.Ile85=) rs983913564
NM_000203.5(IDUA):c.267G>A (p.Arg89=)
NM_000203.5(IDUA):c.297C>T (p.Thr99=)
NM_000203.5(IDUA):c.299+1078del rs1553915149
NM_000203.5(IDUA):c.299+1087G>A rs1162410484
NM_000203.5(IDUA):c.299+1089del rs1553915155
NM_000203.5(IDUA):c.299+10G>A rs775172497
NM_000203.5(IDUA):c.299+10G>C rs775172497
NM_000203.5(IDUA):c.299+1104G>A rs387907484
NM_000203.5(IDUA):c.299+1127del rs1553915173
NM_000203.5(IDUA):c.299+1225G>A rs200798328
NM_000203.5(IDUA):c.299+1235_299+1261del rs1553915189
NM_000203.5(IDUA):c.299+1238del rs1553915192
NM_000203.5(IDUA):c.299+1255del rs1372086275
NM_000203.5(IDUA):c.299+1279C>T rs387907481
NM_000203.5(IDUA):c.299+1313del rs778770773
NM_000203.5(IDUA):c.299+1362_299+1363del rs1265696919
NM_000203.5(IDUA):c.299+1363dup rs1265696919
NM_000203.5(IDUA):c.299+1414_299+1415del rs1553915228
NM_000203.5(IDUA):c.299+1506del rs1553915253
NM_000203.5(IDUA):c.299+1542A>T rs387907487
NM_000203.5(IDUA):c.299+1627G>A rs387907483
NM_000203.5(IDUA):c.299+1638del rs768949918
NM_000203.5(IDUA):c.299+3322C>T rs387907486
NM_000203.5(IDUA):c.299+3360A>G rs760075470
NM_000203.5(IDUA):c.299+3399C>T rs368990025
NM_000203.5(IDUA):c.299+3410_299+3424dup rs778682733
NM_000203.5(IDUA):c.299+3410del rs756881822
NM_000203.5(IDUA):c.299+3420del rs1553915711
NM_000203.5(IDUA):c.299+3444_299+3445del rs758100654
NM_000203.5(IDUA):c.299+3446A>T rs1553915726
NM_000203.5(IDUA):c.299+3455G>T rs752252231
NM_000203.5(IDUA):c.299+3566G>T rs941971930
NM_000203.5(IDUA):c.299+3602del rs1553915784
NM_000203.5(IDUA):c.299+3617del rs1553915793
NM_000203.5(IDUA):c.299+8G>A
NM_000203.5(IDUA):c.300-4G>A
NM_000203.5(IDUA):c.300-5T>C
NM_000203.5(IDUA):c.306C>T (p.Ser102=)
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.312A>C (p.Gly104=)
NM_000203.5(IDUA):c.324C>T (p.Ser108=)
NM_000203.5(IDUA):c.330C>T (p.Asn110=)
NM_000203.5(IDUA):c.345C>T (p.Asp115=)
NM_000203.5(IDUA):c.346G>C (p.Gly116Arg)
NM_000203.5(IDUA):c.354G>C (p.Leu118=)
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.366G>A (p.Arg122=)
NM_000203.5(IDUA):c.369G>A (p.Glu123=)
NM_000203.5(IDUA):c.36G>C (p.Ala12=)
NM_000203.5(IDUA):c.385+8G>A
NM_000203.5(IDUA):c.386-7G>A
NM_000203.5(IDUA):c.386-8T>C
NM_000203.5(IDUA):c.394C>T (p.Leu132=)
NM_000203.5(IDUA):c.39C>T (p.Leu13=)
NM_000203.5(IDUA):c.408C>G (p.Ala136=)
NM_000203.5(IDUA):c.408C>T (p.Ala136=) rs138195998
NM_000203.5(IDUA):c.411G>A (p.Ser137=)
NM_000203.5(IDUA):c.42G>C (p.Leu14=) rs1021970063
NM_000203.5(IDUA):c.441G>A (p.Gln147=)
NM_000203.5(IDUA):c.468C>G (p.Val156=)
NM_000203.5(IDUA):c.475C>T (p.Leu159=)
NM_000203.5(IDUA):c.489C>T (p.Tyr163=)
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.494-9C>T
NM_000203.5(IDUA):c.505C>T (p.Leu169=)
NM_000203.5(IDUA):c.510G>A (p.Ala170=) rs754039388
NM_000203.5(IDUA):c.516T>C (p.Val172=)
NM_000203.5(IDUA):c.528C>T (p.Asn176=)
NM_000203.5(IDUA):c.52C>T (p.Leu18=)
NM_000203.5(IDUA):c.531C>T (p.Phe177=)
NM_000203.5(IDUA):c.534G>A (p.Glu178=) rs762533612
NM_000203.5(IDUA):c.537G>T (p.Thr179=)
NM_000203.5(IDUA):c.552C>T (p.Asp184=)
NM_000203.5(IDUA):c.558C>T (p.His186=) rs1164118339
NM_000203.5(IDUA):c.573C>T (p.Val191=) rs1560546652
NM_000203.5(IDUA):c.589+10G>A
NM_000203.5(IDUA):c.589+8C>T
NM_000203.5(IDUA):c.589+8_590-51dup
NM_000203.5(IDUA):c.590-10C>T
NM_000203.5(IDUA):c.590-4C>T
NM_000203.5(IDUA):c.590-8C>G rs6848974
NM_000203.5(IDUA):c.597G>T (p.Leu199=)
NM_000203.5(IDUA):c.606C>T (p.Tyr202=)
NM_000203.5(IDUA):c.612C>T (p.Ala204=)
NM_000203.5(IDUA):c.618G>T (p.Ser206=)
NM_000203.5(IDUA):c.625C>T (p.Leu209=)
NM_000203.5(IDUA):c.627G>A (p.Leu209=)
NM_000203.5(IDUA):c.639C>T (p.Ser213=)
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.663C>T (p.Pro221=)
NM_000203.5(IDUA):c.666C>T (p.Gly222=) rs200411359
NM_000203.5(IDUA):c.675C>T (p.Phe225=) rs767436466
NM_000203.5(IDUA):c.687G>A (p.Pro229=)
NM_000203.5(IDUA):c.693C>A (p.Ser231=)
NM_000203.5(IDUA):c.693C>T (p.Ser231=) rs529773032
NM_000203.5(IDUA):c.696G>A (p.Pro232=)
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.708C>A (p.Gly236=)
NM_000203.5(IDUA):c.711C>T (p.Leu237=)
NM_000203.5(IDUA):c.714G>T (p.Leu238=)
NM_000203.5(IDUA):c.744C>T (p.Phe248=)
NM_000203.5(IDUA):c.756G>A (p.Ala252=)
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529
NM_000203.5(IDUA):c.765G>C (p.Arg255=) rs965929339
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_000203.5(IDUA):c.789G>A (p.Arg263=)
NM_000203.5(IDUA):c.792+7C>A rs1577539934
NM_000203.5(IDUA):c.793-4G>T rs773734796
NM_000203.5(IDUA):c.793-8G>A
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.798G>A (p.Ala266=)
NM_000203.5(IDUA):c.801C>T (p.Arg267=)
NM_000203.5(IDUA):c.804C>T (p.Ser268=)
NM_000203.5(IDUA):c.822G>A (p.Glu274=) rs1160519179
NM_000203.5(IDUA):c.834C>A (p.Val278=)
NM_000203.5(IDUA):c.846G>A (p.Gln282=)
NM_000203.5(IDUA):c.850C>A (p.Arg284=)
NM_000203.5(IDUA):c.852G>C (p.Arg284=)
NM_000203.5(IDUA):c.858C>T (p.Leu286=) rs1577540331
NM_000203.5(IDUA):c.861C>T (p.Phe287=)
NM_000203.5(IDUA):c.879C>A (p.Thr293=)
NM_000203.5(IDUA):c.882C>T (p.Pro294=)
NM_000203.5(IDUA):c.888C>T (p.Tyr296=) rs1463865220
NM_000203.5(IDUA):c.894C>T (p.Asp298=)
NM_000203.5(IDUA):c.900G>A (p.Ala300=)
NM_000203.5(IDUA):c.903C>T (p.Asp301=) rs759390416
NM_000203.5(IDUA):c.915C>G (p.Gly305=)
NM_000203.5(IDUA):c.91C>T (p.Leu31=)
NM_000203.5(IDUA):c.933G>A (p.Pro311=)
NM_000203.5(IDUA):c.939G>A (p.Arg313=) rs540430727
NM_000203.5(IDUA):c.942G>A (p.Ala314=)
NM_000203.5(IDUA):c.945C>T (p.Asp315=)
NM_000203.5(IDUA):c.948G>T (p.Val316=)
NM_000203.5(IDUA):c.951C>T (p.Thr317=) rs1577540556
NM_000203.5(IDUA):c.957G>C (p.Ala319=) rs748350723
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191
NM_000203.5(IDUA):c.969G>A (p.Val323=)
NM_000203.5(IDUA):c.96G>T (p.Val32=)
NM_000203.5(IDUA):c.972+7C>A
NM_000203.5(IDUA):c.972+8G>A
NM_000203.5(IDUA):c.975C>A (p.Val325=)
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342
NM_000213.5(ITGB4):c.*4C>T rs189610725
NM_000262.3(NAGA):c.*1311T>C
NM_000262.3(NAGA):c.*1930G>A
NM_000262.3(NAGA):c.*555C>T rs141688392
NM_000262.3(NAGA):c.-394A>G
NM_000262.3(NAGA):c.1146T>C (p.Asp382=) rs6002590
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.360G>A (p.Ala120=) rs149600926
NM_000262.3(NAGA):c.482C>T (p.Thr161Ile) rs141557187
NM_000262.3(NAGA):c.502+8A>T rs375946807
NM_000262.3(NAGA):c.598-9G>A
NM_000262.3(NAGA):c.759+10T>G
NM_000262.3(NAGA):c.787T>A (p.Leu263Ile) rs140238609
NM_000262.3(NAGA):c.837C>A (p.Pro279=) rs149066012
NM_000262.3(NAGA):c.903C>T (p.Leu301=) rs765754053
NM_000262.3(NAGA):c.957+7G>A rs1193330730
NM_000262.3(NAGA):c.993G>T (p.Leu331=) rs147853281
NM_000263.3(NAGLU):c.-138A>G rs76407245
NM_000263.3(NAGLU):c.-200G>C rs114904267
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=) rs756871462
NM_000263.4(NAGLU):c.1021+8G>T
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=) rs771833491
NM_000263.4(NAGLU):c.105C>T (p.Leu35=)
NM_000263.4(NAGLU):c.1068C>T (p.His356=)
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=)
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=) rs754413995
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=)
NM_000263.4(NAGLU):c.108G>T (p.Val36=)
NM_000263.4(NAGLU):c.1107G>T (p.Val369=)
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=) rs1469438575
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His)
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=)
NM_000263.4(NAGLU):c.114G>C (p.Arg38=)
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=)
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=)
NM_000263.4(NAGLU):c.120G>T (p.Leu40=)
NM_000263.4(NAGLU):c.1224C>T (p.His408=)
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=)
NM_000263.4(NAGLU):c.123G>T (p.Gly41=)
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=) rs200715586
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=)
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=)
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=)
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=)
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=)
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=)
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=)
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=)
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=) rs202033889
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=)
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn) rs114605439
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=)
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=) rs200029453
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=)
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=) rs143938936
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=)
NM_000263.4(NAGLU):c.141C>T (p.Asp47=)
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=)
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=)
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=) rs140956564
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=) rs115550028
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=) rs113379621
NM_000263.4(NAGLU):c.147C>T (p.Ser49=)
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=) rs752971320
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=)
NM_000263.4(NAGLU):c.153G>C (p.Ser51=)
NM_000263.4(NAGLU):c.153G>T (p.Ser51=)
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=)
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=)
NM_000263.4(NAGLU):c.159G>A (p.Glu53=) rs910639529
NM_000263.4(NAGLU):c.15G>T (p.Ala5=)
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=)
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=) rs149875730
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=)
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=) rs146438251
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=)
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=)
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=)
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=)
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=)
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=) rs368521316
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=) rs760741593
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=)
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=)
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=)
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=)
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=)
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=)
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=)
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=) rs146715254
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=) rs750401625
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=)
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=)
NM_000263.4(NAGLU):c.183C>G (p.Gly61=)
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=)
NM_000263.4(NAGLU):c.1890C>G (p.Val630=)
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=) rs767268083
NM_000263.4(NAGLU):c.18G>A (p.Val6=) rs1599253491
NM_000263.4(NAGLU):c.18G>C (p.Val6=)
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=)
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=)
NM_000263.4(NAGLU):c.198C>T (p.Ser66=)
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=)
NM_000263.4(NAGLU):c.199C>T (p.Leu67=)
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=)
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=) rs115401566
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=)
NM_000263.4(NAGLU):c.2103C>T (p.Val701=)
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=)
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=) rs114687267
NM_000263.4(NAGLU):c.219G>A (p.Ala73=)
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=)
NM_000263.4(NAGLU):c.228G>A (p.Arg76=)
NM_000263.4(NAGLU):c.255C>T (p.Ala85=)
NM_000263.4(NAGLU):c.265C>T (p.Leu89=)
NM_000263.4(NAGLU):c.270C>T (p.His90=)
NM_000263.4(NAGLU):c.273C>T (p.Arg91=)
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=)
NM_000263.4(NAGLU):c.27G>T (p.Ala9=)
NM_000263.4(NAGLU):c.282C>T (p.Arg94=) rs866267579
NM_000263.4(NAGLU):c.30G>T (p.Val10=)
NM_000263.4(NAGLU):c.340C>T (p.Leu114=)
NM_000263.4(NAGLU):c.345A>G (p.Pro115=)
NM_000263.4(NAGLU):c.348C>G (p.Ala116=)
NM_000263.4(NAGLU):c.348C>T (p.Ala116=) rs559674042
NM_000263.4(NAGLU):c.351G>T (p.Val117=) rs1436378685
NM_000263.4(NAGLU):c.366C>A (p.Thr122=)
NM_000263.4(NAGLU):c.366C>G (p.Thr122=)
NM_000263.4(NAGLU):c.383+10C>T
NM_000263.4(NAGLU):c.383+7C>T rs768602711
NM_000263.4(NAGLU):c.384-10C>T
NM_000263.4(NAGLU):c.384-5C>T
NM_000263.4(NAGLU):c.384-8G>A
NM_000263.4(NAGLU):c.417C>T (p.Ser139=)
NM_000263.4(NAGLU):c.459G>A (p.Glu153=)
NM_000263.4(NAGLU):c.474G>T (p.Ala158=)
NM_000263.4(NAGLU):c.48C>T (p.Ala16=) rs1312488945
NM_000263.4(NAGLU):c.510C>T (p.Gly170=) rs375661192
NM_000263.4(NAGLU):c.531+46_531+75del rs1555621618
NM_000263.4(NAGLU):c.543C>T (p.Ala181=)
NM_000263.4(NAGLU):c.627C>G (p.Thr209=)
NM_000263.4(NAGLU):c.648C>G (p.Pro216=)
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000263.4(NAGLU):c.679-5T>C
NM_000263.4(NAGLU):c.69C>G (p.Gly23=)
NM_000263.4(NAGLU):c.702C>T (p.Arg234=)
NM_000263.4(NAGLU):c.708C>T (p.Phe236=) rs770221835
NM_000263.4(NAGLU):c.720A>C (p.Pro240=)
NM_000263.4(NAGLU):c.723G>A (p.Val241=) rs140945842
NM_000263.4(NAGLU):c.729T>G (p.Pro243=)
NM_000263.4(NAGLU):c.732A>C (p.Ala244=)
NM_000263.4(NAGLU):c.732A>G (p.Ala244=)
NM_000263.4(NAGLU):c.735C>T (p.Phe245=)
NM_000263.4(NAGLU):c.750C>G (p.Pro250=)
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
NM_000263.4(NAGLU):c.764+10C>T rs372400832
NM_000263.4(NAGLU):c.771C>T (p.Phe257=) rs1599258298
NM_000263.4(NAGLU):c.777G>A (p.Gln259=)
NM_000263.4(NAGLU):c.780C>T (p.Val260=) rs1411789843
NM_000263.4(NAGLU):c.783T>C (p.Asn261=)
NM_000263.4(NAGLU):c.786C>T (p.Val262=) rs1599258325
NM_000263.4(NAGLU):c.789G>A (p.Thr263=)
NM_000263.4(NAGLU):c.78C>G (p.Ala26=)
NM_000263.4(NAGLU):c.801T>C (p.Ser267=)
NM_000263.4(NAGLU):c.813T>C (p.Phe271=)
NM_000263.4(NAGLU):c.81G>C (p.Arg27=) rs1021204618
NM_000263.4(NAGLU):c.831C>T (p.Cys277=)
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu) rs199625480
NM_000263.4(NAGLU):c.873C>T (p.Ile291=) rs146734024
NM_000263.4(NAGLU):c.894G>A (p.Glu298=)
NM_000263.4(NAGLU):c.897G>T (p.Leu299=)
NM_000263.4(NAGLU):c.909T>C (p.Phe303=)
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=) rs1599258507
NM_000263.4(NAGLU):c.933C>T (p.Ala311=)
NM_000263.4(NAGLU):c.957A>T (p.Pro319=)
NM_000263.4(NAGLU):c.969G>A (p.Glu323=) rs1474272372
NM_000263.4(NAGLU):c.984C>T (p.Ala328=)
NM_000263.4(NAGLU):c.996T>C (p.Thr332=) rs764483473
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3]) rs1024697806
NM_000284.4(PDHA1):c.*1926G>C
NM_000284.4(PDHA1):c.1009-31_1009-7del
NM_000284.4(PDHA1):c.1038T>C (p.Ile346=)
NM_000284.4(PDHA1):c.1099C>T (p.His367Tyr) rs1602232961
NM_000284.4(PDHA1):c.1110C>A (p.Ser370=) rs775280711
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.1146G>A (p.Gln382=)
NM_000284.4(PDHA1):c.1159A>C (p.Lys387Gln) rs201156613
NM_000284.4(PDHA1):c.117+7G>A
NM_000284.4(PDHA1):c.117+9T>G
NM_000284.4(PDHA1):c.1172_*3del (p.Ser390_Ter391insTer) rs1555935577
NM_000284.4(PDHA1):c.118-8C>A
NM_000284.4(PDHA1):c.126C>G (p.Asp42Glu)
NM_000284.4(PDHA1):c.134G>A (p.Arg45Gln)
NM_000284.4(PDHA1):c.162A>C (p.Thr54=) rs1602223801
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr) rs768396832
NM_000284.4(PDHA1):c.186C>T (p.Leu62=)
NM_000284.4(PDHA1):c.192C>T (p.Tyr64=)
NM_000284.4(PDHA1):c.21C>T (p.Ala7=)
NM_000284.4(PDHA1):c.240G>A (p.Gln80=) rs1602223831
NM_000284.4(PDHA1):c.270C>T (p.Phe90=)
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
NM_000284.4(PDHA1):c.292-7A>G
NM_000284.4(PDHA1):c.292-9C>T
NM_000284.4(PDHA1):c.30C>T (p.Arg10=)
NM_000284.4(PDHA1):c.318C>T (p.Ala106=) rs764516370
NM_000284.4(PDHA1):c.330C>T (p.Pro110=)
NM_000284.4(PDHA1):c.333A>G (p.Thr111=)
NM_000284.4(PDHA1):c.345C>T (p.Ile115=)
NM_000284.4(PDHA1):c.375C>T (p.Phe125=)
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963
NM_000284.4(PDHA1):c.411G>A (p.Glu137=) rs1301075698
NM_000284.4(PDHA1):c.419-8A>G
NM_000284.4(PDHA1):c.435T>C (p.Cys145=)
NM_000284.4(PDHA1):c.511-5G>A
NM_000284.4(PDHA1):c.511-6T>C
NM_000284.4(PDHA1):c.57+6A>T rs375415868
NM_000284.4(PDHA1):c.604-8A>G
NM_000284.4(PDHA1):c.657T>C (p.Ile219=) rs778744930
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
NM_000284.4(PDHA1):c.672T>C (p.Asn224=)
NM_000284.4(PDHA1):c.693G>T (p.Thr231=)
NM_000284.4(PDHA1):c.69G>A (p.Val23=)
NM_000284.4(PDHA1):c.708G>C (p.Ala236=)
NM_000284.4(PDHA1):c.732G>A (p.Lys244=)
NM_000284.4(PDHA1):c.756G>C (p.Leu252=)
NM_000284.4(PDHA1):c.759+8C>T
NM_000284.4(PDHA1):c.759+9del rs1602227706
NM_000284.4(PDHA1):c.765T>C (p.Asp255=) rs1602227938
NM_000284.4(PDHA1):c.783C>T (p.Cys261=)
NM_000284.4(PDHA1):c.810T>G (p.Ala270=)
NM_000284.4(PDHA1):c.813C>T (p.Ala271=) rs1602228001
NM_000284.4(PDHA1):c.816T>C (p.Tyr272=)
NM_000284.4(PDHA1):c.828G>A (p.Gly276=)
NM_000284.4(PDHA1):c.867C>T (p.Tyr289=)
NM_000284.4(PDHA1):c.891T>C (p.Pro297=)
NM_000284.4(PDHA1):c.899+4C>T
NM_000284.4(PDHA1):c.899+8C>T rs766362480
NM_000284.4(PDHA1):c.899+9A>G rs751604605
NM_000284.4(PDHA1):c.900-10C>T
NM_000284.4(PDHA1):c.903C>T (p.Tyr301=)
NM_000284.4(PDHA1):c.948T>A (p.Pro316=)
NM_000284.4(PDHA1):c.978C>T (p.Asn326=)
NM_000284.4(PDHA1):c.984T>C (p.Asn328=) rs767503319
NM_000289.6(PFKM):c.1014C>G (p.Leu338=)
NM_000289.6(PFKM):c.1020T>C (p.Gly340=)
NM_000289.6(PFKM):c.1032G>A (p.Val344=)
NM_000289.6(PFKM):c.103A>C (p.Arg35=) rs1057522048
NM_000289.6(PFKM):c.1041C>T (p.Pro347=)
NM_000289.6(PFKM):c.1044C>G (p.Leu348=)
NM_000289.6(PFKM):c.1063-5C>T rs758178966
NM_000289.6(PFKM):c.1063-6C>G rs371033104
NM_000289.6(PFKM):c.1063-6C>T
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
NM_000289.6(PFKM):c.1127+10T>C
NM_000289.6(PFKM):c.1127+7A>G
NM_000289.6(PFKM):c.1127+9A>C
NM_000289.6(PFKM):c.1128-10C>A
NM_000289.6(PFKM):c.1128-4A>G
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)
NM_000289.6(PFKM):c.1161T>C (p.Leu387=)
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
NM_000289.6(PFKM):c.1182G>A (p.Pro394=) rs372189049
NM_000289.6(PFKM):c.1192-3_1192-2del
NM_000289.6(PFKM):c.1192-4A>G
NM_000289.6(PFKM):c.1192-5T>C rs778432092
NM_000289.6(PFKM):c.1192-7T>C
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
NM_000289.6(PFKM):c.1221C>T (p.Asn407=)
NM_000289.6(PFKM):c.1224G>C (p.Val408=)
NM_000289.6(PFKM):c.1242C>G (p.Gly414=) rs886049454
NM_000289.6(PFKM):c.1254T>G (p.Ala418=) rs1592789513
NM_000289.6(PFKM):c.1260C>T (p.Arg420=) rs756454146
NM_000289.6(PFKM):c.1275T>C (p.Ile425=) rs1592789738
NM_000289.6(PFKM):c.129C>T (p.Phe43=)
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
NM_000289.6(PFKM):c.1308C>G (p.Val436=) rs779395140
NM_000289.6(PFKM):c.1311T>C (p.His437=)
NM_000289.6(PFKM):c.1320C>T (p.Phe440=) rs540444775
NM_000289.6(PFKM):c.132C>T (p.Thr44=)
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys) rs1555206566
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys) rs145040928
NM_000289.6(PFKM):c.1342-7C>T rs1592793920
NM_000289.6(PFKM):c.1342-9del
NM_000289.6(PFKM):c.1347G>A (p.Glu449=)
NM_000289.6(PFKM):c.1374C>G (p.Gly458=)
NM_000289.6(PFKM):c.138C>T (p.Ala46=)
NM_000289.6(PFKM):c.1416T>C (p.Thr472=)
NM_000289.6(PFKM):c.1417C>T (p.Leu473=)
NM_000289.6(PFKM):c.1443C>T (p.Ile481=)
NM_000289.6(PFKM):c.1464T>C (p.Phe488=) rs374814413
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
NM_000289.6(PFKM):c.1476C>T (p.Gly492=) rs200847712
NM_000289.6(PFKM):c.1500+9C>T
NM_000289.6(PFKM):c.1501-12TCT[2]
NM_000289.6(PFKM):c.1503T>A (p.Ala501=)
NM_000289.6(PFKM):c.1503T>G (p.Ala501=)
NM_000289.6(PFKM):c.1521A>G (p.Glu507=) rs1592800238
NM_000289.6(PFKM):c.1587C>T (p.Val529=)
NM_000289.6(PFKM):c.159+10G>A
NM_000289.6(PFKM):c.1599C>A (p.Val533=)
NM_000289.6(PFKM):c.1611C>T (p.Asp537=)
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
NM_000289.6(PFKM):c.1653+8C>T rs369425921
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669
NM_000289.6(PFKM):c.1779C>G (p.Ala593=) rs1592808888
NM_000289.6(PFKM):c.1818+10C>T rs774040508
NM_000289.6(PFKM):c.1819-9C>A rs755585302
NM_000289.6(PFKM):c.1834C>T (p.Leu612=)
NM_000289.6(PFKM):c.1857T>C (p.Thr619=) rs762229855
NM_000289.6(PFKM):c.1881-8C>T rs779486479
NM_000289.6(PFKM):c.1908C>T (p.Thr636=)
NM_000289.6(PFKM):c.192C>T (p.His64=)
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
NM_000289.6(PFKM):c.1993-6C>T
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=) rs745739278
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.2092+7G>A
NM_000289.6(PFKM):c.2092+9G>A
NM_000289.6(PFKM):c.2092+9G>T
NM_000289.6(PFKM):c.2097G>C (p.Arg699=)
NM_000289.6(PFKM):c.2121G>A (p.Ser707=) rs370046842
NM_000289.6(PFKM):c.2127T>C (p.Cys709=)
NM_000289.6(PFKM):c.2176C>T (p.Leu726=)
NM_000289.6(PFKM):c.2190A>G (p.Thr730=)
NM_000289.6(PFKM):c.2199-12A>G rs202008060
NM_000289.6(PFKM):c.2199-4G>A rs1195176028
NM_000289.6(PFKM):c.2199-9C>T
NM_000289.6(PFKM):c.21T>C (p.His7=)
NM_000289.6(PFKM):c.2211C>G (p.Pro737=)
NM_000289.6(PFKM):c.222G>A (p.Ser74=)
NM_000289.6(PFKM):c.2233C>T (p.Leu745=)
NM_000289.6(PFKM):c.2241C>T (p.Pro747=)
NM_000289.6(PFKM):c.2253C>A (p.Ile751=)
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=) rs374418157
NM_000289.6(PFKM):c.2292T>C (p.His764=)
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
NM_000289.6(PFKM):c.237+10A>G
NM_000289.6(PFKM):c.297C>T (p.Leu99=) rs1181881387
NM_000289.6(PFKM):c.309C>T (p.Tyr103=)
NM_000289.6(PFKM):c.318G>A (p.Val106=) rs775680284
NM_000289.6(PFKM):c.327G>A (p.Gly109=)
NM_000289.6(PFKM):c.333C>T (p.Thr111=)
NM_000289.6(PFKM):c.366C>T (p.Leu122=)
NM_000289.6(PFKM):c.369T>G (p.Thr123=) rs1592727757
NM_000289.6(PFKM):c.36G>A (p.Leu12=)
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672
NM_000289.6(PFKM):c.428-5G>A
NM_000289.6(PFKM):c.428-6T>C
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.459C>T (p.Ser153=) rs145519821
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
NM_000289.6(PFKM):c.471C>T (p.Asn157=)
NM_000289.6(PFKM):c.477G>T (p.Val159=)
NM_000289.6(PFKM):c.495T>A (p.Ile165=)
NM_000289.6(PFKM):c.543C>T (p.Ala181=)
NM_000289.6(PFKM):c.552G>T (p.Arg184=)
NM_000289.6(PFKM):c.564T>C (p.Ile188=)
NM_000289.6(PFKM):c.570T>C (p.Asp190=) rs761133325
NM_000289.6(PFKM):c.593+10C>G
NM_000289.6(PFKM):c.594-4G>A
NM_000289.6(PFKM):c.597C>T (p.His199=)
NM_000289.6(PFKM):c.627C>G (p.Gly209=)
NM_000289.6(PFKM):c.66C>G (p.Thr22=)
NM_000289.6(PFKM):c.675C>T (p.Ala225=)
NM_000289.6(PFKM):c.702A>G (p.Pro234=)
NM_000289.6(PFKM):c.702A>T (p.Pro234=) rs138022863
NM_000289.6(PFKM):c.711C>T (p.Asp237=)
NM_000289.6(PFKM):c.747+10C>T
NM_000289.6(PFKM):c.748-6A>G
NM_000289.6(PFKM):c.774C>T (p.Asn258=)
NM_000289.6(PFKM):c.825C>T (p.Thr275=)
NM_000289.6(PFKM):c.834C>T (p.Asp278=)
NM_000289.6(PFKM):c.844-8C>T
NM_000289.6(PFKM):c.859C>T (p.Leu287=)
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
NM_000289.6(PFKM):c.912G>A (p.Thr304=)
NM_000289.6(PFKM):c.921C>T (p.Ala307=)
NM_000289.6(PFKM):c.927C>T (p.Asp309=)
NM_000289.6(PFKM):c.937-4G>A
NM_000289.6(PFKM):c.937-6C>T
NM_000289.6(PFKM):c.937-8T>C
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
NM_000290.4(PGAM2):c.276C>T (p.Tyr92=)
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
NM_000290.4(PGAM2):c.596-3T>C rs367994618
NM_000290.4(PGAM2):c.636G>A (p.Thr212=) rs755991460
NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala) rs140230479
NM_000290.4(PGAM2):c.90G>A (p.Leu30=)
NM_000291.4(PGK1):c.238C>T (p.Pro80Ser)
NM_000292.3(PHKA2):c.1398G>A (p.Ala466=) rs146631734
NM_000292.3(PHKA2):c.1989T>C (p.Tyr663=) rs770108234
NM_000292.3(PHKA2):c.2365C>T (p.Pro789Ser) rs138395800
NM_000292.3(PHKA2):c.3111+14G>T
NM_000292.3(PHKA2):c.3330C>T (p.Thr1110=) rs749097024
NM_000292.3(PHKA2):c.339C>T (p.His113=) rs142799459
NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)
NM_000293.3(PHKB):c.*590A>G
NM_000293.3(PHKB):c.*641C>A rs117861728
NM_000293.3(PHKB):c.*915G>A rs151262633
NM_000293.3(PHKB):c.*989A>T
NM_000293.3(PHKB):c.1121T>C (p.Ile374Thr)
NM_000293.3(PHKB):c.1127-14A>G rs185628131
NM_000293.3(PHKB):c.1204+9G>T rs200832185
NM_000293.3(PHKB):c.1364-10T>C rs199899291
NM_000293.3(PHKB):c.1458+16A>G rs371140883
NM_000293.3(PHKB):c.1746A>G (p.Leu582=) rs111970242
NM_000293.3(PHKB):c.1759A>C (p.Met587Leu) rs140636792
NM_000293.3(PHKB):c.1797+8C>T rs77462273
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554
NM_000293.3(PHKB):c.2278+15C>G rs201402032
NM_000293.3(PHKB):c.2283C>T (p.Thr761=)
NM_000293.3(PHKB):c.2284G>A (p.Val762Ile) rs56010117
NM_000293.3(PHKB):c.2427+1014G>A
NM_000293.3(PHKB):c.2427+964del rs762091938
NM_000293.3(PHKB):c.2433T>G (p.Thr811=) rs187940556
NM_000293.3(PHKB):c.2453AAG[2] (p.Glu820del) rs532057230
NM_000293.3(PHKB):c.2544C>T (p.Val848=) rs200981011
NM_000293.3(PHKB):c.2673C>T (p.Gly891=)
NM_000293.3(PHKB):c.2674G>A (p.Gly892Arg)
NM_000293.3(PHKB):c.2766-7G>A rs199719186
NM_000293.3(PHKB):c.2766-8T>C rs186710481
NM_000293.3(PHKB):c.3039C>T (p.Asn1013=)
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=) rs137869198
NM_000293.3(PHKB):c.391C>T (p.Arg131Cys) rs202167409
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys) rs144211929
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.710+12A>C
NM_000293.3(PHKB):c.870+10T>A rs144932435
NM_000293.3(PHKB):c.870+7C>T
NM_000294.3(PHKG2):c.*2539T>C rs886051919
NM_000294.3(PHKG2):c.*590G>A rs886051916
NM_000294.3(PHKG2):c.1035A>G (p.Ser345=)
NM_000294.3(PHKG2):c.174A>T (p.Thr58=) rs56207641
NM_000294.3(PHKG2):c.360A>G (p.Thr120=) rs149163610
NM_000294.3(PHKG2):c.393G>A (p.Arg131=) rs55751949
NM_000294.3(PHKG2):c.864C>T (p.His288=)
NM_000294.3(PHKG2):c.96-10G>T rs74015042
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.1686C>T (p.Ser562=) rs140859641
NM_000298.6(PKLR):c.181C>T (p.Leu61=) rs8177962
NM_000298.6(PKLR):c.375+10G>T
NM_000308.3(CTSA):c.-172A>C rs184484066
NM_000308.3(CTSA):c.-223G>A rs117529875
NM_000308.3(CTSA):c.-43G>T rs116893852
NM_000308.3(CTSA):c.108G>C (p.Leu36=) rs181943893
NM_000308.3(CTSA):c.1090G>A (p.Val364Met) rs137941635
NM_000308.3(CTSA):c.1113G>A (p.Pro371=) rs74694805
NM_000308.3(CTSA):c.159C>T (p.Ile53=) rs150140984
NM_000308.3(CTSA):c.522C>T (p.Ala174=) rs190565374
NM_000308.3(CTSA):c.934G>A (p.Asp312Asn) rs142892564
NM_000308.4(CTSA):c.*51C>G
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776
NM_000308.4(CTSA):c.1356C>A (p.Ile452=) rs1201030038
NM_000308.4(CTSA):c.201G>A (p.Val67=)
NM_000308.4(CTSA):c.414T>C (p.Asp138=)
NM_000308.4(CTSA):c.54G>T (p.Leu18=) rs181943893
NM_000340.2(SLC2A2):c.*1059del rs139372968
NM_000340.2(SLC2A2):c.*1260A>G rs573454591
NM_000340.2(SLC2A2):c.*486T>C rs566222124
NM_000340.2(SLC2A2):c.*930_*934del rs140350942
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149
NM_000340.2(SLC2A2):c.1164G>A (p.Val388=) rs140794946
NM_000340.2(SLC2A2):c.1269G>T (p.Val423=)
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397
NM_000340.2(SLC2A2):c.162A>G (p.Lys54=) rs546539032
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863
NM_000340.2(SLC2A2):c.39T>C (p.Thr13=)
NM_000340.2(SLC2A2):c.496+10A>T rs5403
NM_000340.2(SLC2A2):c.496+6_496+7dup rs111737375
NM_000340.2(SLC2A2):c.496+7_496+8insCTCA rs746295534
NM_000340.2(SLC2A2):c.593C>A (p.Thr198Lys) rs149460434
NM_000340.2(SLC2A2):c.852G>A (p.Ser284=) rs371899639
NM_000340.2(SLC2A2):c.951C>T (p.Ser317=)
NM_000343.3(SLC5A1):c.-36G>A rs200961861
NM_000343.4(SLC5A1):c.*1203A>G
NM_000343.4(SLC5A1):c.*1237A>G rs368732312
NM_000343.4(SLC5A1):c.*1455C>A rs559383534
NM_000343.4(SLC5A1):c.*1476A>G
NM_000343.4(SLC5A1):c.*423dup rs140860103
NM_000343.4(SLC5A1):c.1200C>T (p.Ser400=)
NM_000343.4(SLC5A1):c.153T>C (p.Asn51=)
NM_000343.4(SLC5A1):c.1846G>A (p.Gly616Ser) rs61733910
NM_000343.4(SLC5A1):c.207+19G>A
NM_000343.4(SLC5A1):c.373-13G>A rs201398293
NM_000343.4(SLC5A1):c.478-7dup
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu) rs150117594
NM_000343.4(SLC5A1):c.744C>T (p.Asn248=)
NM_000352.5(ABCC8):c.2256-16del rs774508952
NM_000352.5(ABCC8):c.2475+19G>A rs373894772
NM_000352.6(ABCC8):c.-19A>G rs193922394
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu) rs933815442
NM_000365.6(TPI1):c.*178G>A rs144171030
NM_000365.6(TPI1):c.*519T>C
NM_000365.6(TPI1):c.*549A>G
NM_000365.6(TPI1):c.-31C>T
NM_000365.6(TPI1):c.116-13A>G
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000404.4(GLB1):c.*184G>A rs143430374
NM_000404.4(GLB1):c.*376C>G rs147437116
NM_000404.4(GLB1):c.-48G>C
NM_000404.4(GLB1):c.1008A>G (p.Pro336=)
NM_000404.4(GLB1):c.1009C>T (p.Leu337=) rs376034559
NM_000404.4(GLB1):c.1020T>C (p.Ala340=)
NM_000404.4(GLB1):c.105C>T (p.Asp35=)
NM_000404.4(GLB1):c.1069-4A>G
NM_000404.4(GLB1):c.1074A>G (p.Glu358=)
NM_000404.4(GLB1):c.1077A>G (p.Lys359=) rs751886625
NM_000404.4(GLB1):c.1092T>C (p.Pro364=) rs750932808
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
NM_000404.4(GLB1):c.1101A>G (p.Pro367=)
NM_000404.4(GLB1):c.1110A>G (p.Pro370=) rs760325133
NM_000404.4(GLB1):c.1144-8C>G rs1575417836
NM_000404.4(GLB1):c.1215A>C (p.Thr405=)
NM_000404.4(GLB1):c.1233+8T>C rs13093698
NM_000404.4(GLB1):c.1233+91G>C
NM_000404.4(GLB1):c.1234-10T>G
NM_000404.4(GLB1):c.123C>T (p.Phe41=)
NM_000404.4(GLB1):c.1257G>A (p.Arg419=)
NM_000404.4(GLB1):c.1263A>G (p.Thr421=)
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.4(GLB1):c.1293T>C (p.Pro431=)
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.1326A>G (p.Arg442=) rs953970172
NM_000404.4(GLB1):c.132T>C (p.Asp44=)
NM_000404.4(GLB1):c.1347+10G>A rs199538100
NM_000404.4(GLB1):c.1347+9C>T
NM_000404.4(GLB1):c.1348-7C>T
NM_000404.4(GLB1):c.1356G>A (p.Gln452=) rs1360438550
NM_000404.4(GLB1):c.1368G>A (p.Glu456=)
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264
NM_000404.4(GLB1):c.1449G>T (p.Val483=)
NM_000404.4(GLB1):c.1470C>T (p.Asn490=)
NM_000404.4(GLB1):c.1480-4G>T
NM_000404.4(GLB1):c.1480-5T>C
NM_000404.4(GLB1):c.1480-8C>G rs753129246
NM_000404.4(GLB1):c.1480-8del
NM_000404.4(GLB1):c.1495C>T (p.Leu499=)
NM_000404.4(GLB1):c.150C>T (p.Tyr50=)
NM_000404.4(GLB1):c.1511A>G (p.Asn504Ser)
NM_000404.4(GLB1):c.1512T>C (p.Asn504=)
NM_000404.4(GLB1):c.1515C>T (p.Ile505=)
NM_000404.4(GLB1):c.1518C>T (p.Leu506=) rs748176346
NM_000404.4(GLB1):c.1521G>A (p.Thr507=)
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met) rs1803198
NM_000404.4(GLB1):c.1530G>A (p.Thr510=) rs191203702
NM_000404.4(GLB1):c.1536T>C (p.Phe512=)
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760
NM_000404.4(GLB1):c.1593C>T (p.Asp531=)
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339
NM_000404.4(GLB1):c.1601A>G (p.His534Arg) rs770982909
NM_000404.4(GLB1):c.1605T>C (p.His535=)
NM_000404.4(GLB1):c.1620C>T (p.Ala540=)
NM_000404.4(GLB1):c.1641G>A (p.Thr547=) rs370546368
NM_000404.4(GLB1):c.1650C>G (p.Ala550=)
NM_000404.4(GLB1):c.1715A>G (p.Gln572Arg) rs183126947
NM_000404.4(GLB1):c.1735-10C>G rs766907320
NM_000404.4(GLB1):c.1735-10C>T
NM_000404.4(GLB1):c.1735-15TC[4]
NM_000404.4(GLB1):c.1735-15TC[5]
NM_000404.4(GLB1):c.1735-15TC[7] rs745361874
NM_000404.4(GLB1):c.1735-16_1735-9dup
NM_000404.4(GLB1):c.1735-8C>T
NM_000404.4(GLB1):c.1767C>T (p.Gly589=) rs373181758
NM_000404.4(GLB1):c.1803G>A (p.Leu601=)
NM_000404.4(GLB1):c.1812C>G (p.Pro604=)
NM_000404.4(GLB1):c.1815G>A (p.Gln605=)
NM_000404.4(GLB1):c.1830C>G (p.Thr610=) rs189054965
NM_000404.4(GLB1):c.1833G>C (p.Ser611=)
NM_000404.4(GLB1):c.1851C>T (p.Thr617=)
NM_000404.4(GLB1):c.1861C>T (p.Leu621=) rs748948967
NM_000404.4(GLB1):c.1896A>G (p.Glu632=)
NM_000404.4(GLB1):c.1911G>A (p.Thr637=)
NM_000404.4(GLB1):c.1914C>T (p.Phe638=)
NM_000404.4(GLB1):c.1938A>G (p.Ser646=) rs201051026
NM_000404.4(GLB1):c.1950C>T (p.Tyr650=)
NM_000404.4(GLB1):c.1980A>G (p.Arg660=)
NM_000404.4(GLB1):c.1983C>T (p.Leu661=)
NM_000404.4(GLB1):c.1989C>T (p.Pro663=)
NM_000404.4(GLB1):c.1992A>G (p.Pro664=) rs780675073
NM_000404.4(GLB1):c.1995C>T (p.Pro665=)
NM_000404.4(GLB1):c.1998G>A (p.Pro666=) rs746939617
NM_000404.4(GLB1):c.2007C>T (p.Asn669=)
NM_000404.4(GLB1):c.2016A>G (p.Ser672=) rs756403702
NM_000404.4(GLB1):c.2028T>C (p.His676=)
NM_000404.4(GLB1):c.2031A>G (p.Val677=)
NM_000404.4(GLB1):c.204G>T (p.Arg68=) rs1309516618
NM_000404.4(GLB1):c.229C>T (p.Leu77=)
NM_000404.4(GLB1):c.234C>T (p.Asn78=) rs368796666
NM_000404.4(GLB1):c.27C>T (p.Leu9=)
NM_000404.4(GLB1):c.31C>G (p.Leu11Val) rs77988381
NM_000404.4(GLB1):c.31C>T (p.Leu11=)
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.4(GLB1):c.327G>A (p.Arg109=) rs751602590
NM_000404.4(GLB1):c.327G>T (p.Arg109=)
NM_000404.4(GLB1):c.336T>C (p.His112=)
NM_000404.4(GLB1):c.342G>A (p.Leu114=)
NM_000404.4(GLB1):c.366C>T (p.Pro122=)
NM_000404.4(GLB1):c.397-5A>G rs375046684
NM_000404.4(GLB1):c.402A>T (p.Gly134=)
NM_000404.4(GLB1):c.42T>C (p.Val14=)
NM_000404.4(GLB1):c.450C>T (p.Ser150=)
NM_000404.4(GLB1):c.496C>T (p.Leu166=)
NM_000404.4(GLB1):c.519C>G (p.Leu173=)
NM_000404.4(GLB1):c.534G>A (p.Gly178=) rs928862880
NM_000404.4(GLB1):c.546A>G (p.Thr182=)
NM_000404.4(GLB1):c.561T>C (p.Asn187=)
NM_000404.4(GLB1):c.5C>G (p.Pro2Arg)
NM_000404.4(GLB1):c.61A>G (p.Thr21Ala)
NM_000404.4(GLB1):c.623G>A (p.Arg208His) rs111840209
NM_000404.4(GLB1):c.669A>G (p.Ala223=)
NM_000404.4(GLB1):c.66C>T (p.Arg22=)
NM_000404.4(GLB1):c.678A>G (p.Thr226=)
NM_000404.4(GLB1):c.681C>T (p.Phe227=)
NM_000404.4(GLB1):c.693G>C (p.Gly231=) rs754493105
NM_000404.4(GLB1):c.693G>T (p.Gly231=)
NM_000404.4(GLB1):c.69C>G (p.Gly23=) rs780964758
NM_000404.4(GLB1):c.708C>T (p.Leu236=)
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
NM_000404.4(GLB1):c.717G>T (p.Thr239=)
NM_000404.4(GLB1):c.733+78A>G
NM_000404.4(GLB1):c.734-10C>A
NM_000404.4(GLB1):c.734-80G>A
NM_000404.4(GLB1):c.75+10C>T
NM_000404.4(GLB1):c.76-4G>A
NM_000404.4(GLB1):c.76-9G>A
NM_000404.4(GLB1):c.780C>G (p.Pro260=) rs763307375
NM_000404.4(GLB1):c.782A>G (p.Lys261Arg)
NM_000404.4(GLB1):c.789C>G (p.Pro263=)
NM_000404.4(GLB1):c.792+10G>A
NM_000404.4(GLB1):c.792+10G>C
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.792+9C>A
NM_000404.4(GLB1):c.813T>C (p.Thr271=)
NM_000404.4(GLB1):c.849A>C (p.Thr283=) rs1238694687
NM_000404.4(GLB1):c.858C>T (p.Thr286=) rs770638519
NM_000404.4(GLB1):c.873C>T (p.Ser291=)
NM_000404.4(GLB1):c.876C>G (p.Ser292=)
NM_000404.4(GLB1):c.879C>T (p.Leu293=)
NM_000404.4(GLB1):c.903G>A (p.Ala301=)
NM_000404.4(GLB1):c.912C>T (p.Asn304=)
NM_000404.4(GLB1):c.914+7G>C
NM_000404.4(GLB1):c.915-10T>C
NM_000404.4(GLB1):c.948T>C (p.Tyr316=)
NM_000404.4(GLB1):c.955+8C>T
NM_000404.4(GLB1):c.956-6T>C
NM_000404.4(GLB1):c.972T>C (p.Tyr324=)
NM_000404.4(GLB1):c.975A>G (p.Ala325=)
NM_000404.4(GLB1):c.987C>T (p.Thr329=)
NM_000404.4(GLB1):c.993C>T (p.Tyr331=)
NM_000434.3(NEU1):c.-76C>G rs566696697
NM_000434.4(NEU1):c.*445T>G rs113824527
NM_000485.2(APRT):c.-50C>A rs8191469
NM_000485.3(APRT):c.*182A>G rs8191498
NM_000485.3(APRT):c.*3A>G rs2070256
NM_000485.3(APRT):c.*47T>C rs8191497
NM_000485.3(APRT):c.90G>T (p.Ser30=) rs8191472
NM_000485.3(APRT):c.97C>T (p.Leu33=) rs8191473
NM_000507.4(FBP1):c.*248del rs11351544
NM_000507.4(FBP1):c.102G>C (p.Leu34=) rs143832764
NM_000507.4(FBP1):c.306C>T (p.His102=) rs776366063
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
NM_000507.4(FBP1):c.498A>C (p.Ala166=)
NM_000507.4(FBP1):c.639C>T (p.Asn213=)
NM_000507.4(FBP1):c.663C>T (p.Asp221=)
NM_000507.4(FBP1):c.670G>A (p.Val224Ile) rs140222720
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile) rs2297085
NM_000507.4(FBP1):c.745A>C (p.Met249Leu)
NM_000507.4(FBP1):c.826-9G>C rs200948424
NM_000507.4(FBP1):c.915C>T (p.Asp305=) rs762285012
NM_000512.4(GALNS):c.-92T>C rs116702472
NM_000512.5(GALNS):c.*224C>G rs111233947
NM_000512.5(GALNS):c.*236C>T rs189375208
NM_000512.5(GALNS):c.*296A>G rs79507351
NM_000512.5(GALNS):c.*524G>C rs3759946
NM_000512.5(GALNS):c.*546C>T rs114447455
NM_000512.5(GALNS):c.-32C>T
NM_000512.5(GALNS):c.1005G>C (p.Val335=) rs772871566
NM_000512.5(GALNS):c.1071G>A (p.Pro357=) rs374619390
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270
NM_000512.5(GALNS):c.1140-5C>T
NM_000512.5(GALNS):c.1182C>A (p.Thr394=) rs1414082372
NM_000512.5(GALNS):c.1230G>A (p.Glu410=) rs567507214
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371
NM_000512.5(GALNS):c.1336C>T (p.Arg446Trp) rs557217245
NM_000512.5(GALNS):c.1364+8G>A rs368171136
NM_000512.5(GALNS):c.1374C>T (p.Ser458=) rs534204869
NM_000512.5(GALNS):c.1377C>T (p.Ala459=) rs757704061
NM_000512.5(GALNS):c.138C>T (p.Leu46=)
NM_000512.5(GALNS):c.1409C>T (p.Ser470Leu)
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058
NM_000512.5(GALNS):c.1551G>A (p.Lys517=)
NM_000512.5(GALNS):c.168C>G (p.Thr56=) rs368128023
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929
NM_000512.5(GALNS):c.324C>T (p.Tyr108=) rs150582627
NM_000512.5(GALNS):c.330G>A (p.Pro110=) rs374355420
NM_000512.5(GALNS):c.597G>A (p.Lys199=)
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.771C>T (p.Ala257=) rs370586494
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.5(GALNS):c.822C>T (p.Asp274=)
NM_000512.5(GALNS):c.828C>T (p.His276=) rs759216815
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658
NM_000512.5(GALNS):c.858G>A (p.Thr286=) rs140299014
NM_000512.5(GALNS):c.885C>T (p.Ser295=)
NM_000525.3(KCNJ11):c.*215C>T rs5210
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1089A>G (p.Ser363=) rs5214
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000528.4(MAN2B1):c.*42G>A rs149101136
NM_000528.4(MAN2B1):c.1020T>C (p.Asn340=) rs1389459819
NM_000528.4(MAN2B1):c.1023G>A (p.Ala341=) rs755616565
NM_000528.4(MAN2B1):c.1026+8C>T
NM_000528.4(MAN2B1):c.1026+9G>A rs762829719
NM_000528.4(MAN2B1):c.1027-4G>A rs368900863
NM_000528.4(MAN2B1):c.1027-7C>T
NM_000528.4(MAN2B1):c.1044T>C (p.Ser348=)
NM_000528.4(MAN2B1):c.1056C>T (p.Leu352=)
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
NM_000528.4(MAN2B1):c.1080C>G (p.Leu360=)
NM_000528.4(MAN2B1):c.1104C>A (p.Leu368=)
NM_000528.4(MAN2B1):c.1109+10G>A
NM_000528.4(MAN2B1):c.1109+41C>A rs200862799
NM_000528.4(MAN2B1):c.1110-4G>A rs758041910
NM_000528.4(MAN2B1):c.1110-4G>T
NM_000528.4(MAN2B1):c.1110-8C>T rs201690866
NM_000528.4(MAN2B1):c.1125C>T (p.Asp375=)
NM_000528.4(MAN2B1):c.1134C>T (p.Phe378=)
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=) rs762375074
NM_000528.4(MAN2B1):c.116T>C (p.Leu39Pro)
NM_000528.4(MAN2B1):c.1188G>A (p.Pro396=)
NM_000528.4(MAN2B1):c.1206G>A (p.Glu402=)