ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Invitae

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2753
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HGVS dbSNP
NC_000001.10:g.(?_100314640)_(100390579_?)dup
NC_000001.10:g.(?_100316579)_(100387227_?)dup
NC_000003.11:g.(?_25805537)_(25805822_?)del
NC_000003.12:g.(?_25719440)_(25734002_?)del
NC_000003.12:g.(?_58428014)_(58431813_?)del
NC_000004.11:g.(?_39459814)_(39528725_?)dup
NC_000004.11:g.(?_39460718)_(39478755_?)dup
NC_000004.11:g.(?_39460738)_(39478735_?)dup
NC_000004.12:g.(?_102650517)_(102726703_?)del
NC_000004.12:g.(?_177431688)_(177442395_?)dup
NC_000007.13:g.(?_151252200)_(151575316_?)del
NC_000007.13:g.(?_151252200)_(151575316_?)dup
NC_000007.13:g.(?_151254277)_(151254328_?)del
NC_000007.13:g.(?_151262800)_(152373170_?)del
NC_000007.13:g.(?_151372486)_(151483647_?)dup
NC_000007.13:g.(?_151478228)_(151573715_?)dup
NC_000007.13:g.(?_151573582)_(151573715_?)dup
NC_000007.13:g.(?_65425884)_(65447170_?)dup
NC_000007.14:g.(?_65960877)_(65982203_?)dup
NC_000008.10:g.(?_42958672)_(43054732_?)dup
NC_000008.10:g.(?_43013698)_(43054712_?)dup
NC_000008.11:g.(?_43083118)_(43304769_?)dup
NC_000008.11:g.(?_43139449)_(43203827_?)dup
NC_000008.11:g.(?_43140487)_(43199579_?)dup
NC_000011.9:g.(?_117856768)_(118972385_?)dup
NC_000011.9:g.(?_118895600)_(118972385_?)dup
NC_000011.9:g.(?_64518138_64519390del
NC_000012.12:g.(?_64747692)_(64747938_?)del
NC_000016.9:g.(?_29802081)_(30199917_?)dup
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NC_000016.9:g.(?_47682424)_(47684852_?)dup
NC_000017.10:g.(?_78078341)_(78093140_?)dup
NC_000017.10:g.(?_78078341)_(78093150_?)dup
NC_000017.10:g.(?_78090757)_(78093140_?)dup
NC_000017.10:g.(?_78092582_78096154del
NC_000019.10:g.(?_48977904)_(48993132_?)dup
NC_000019.10:g.(?_48977914)_(48993363_?)dup
NC_000019.10:g.(?_48987184)_(48987395_?)del
NC_000019.9:g.(?_49481161)_(49496369_?)dup
NC_000020.10:g.(?_389363)_(411094_?)dup
NC_000020.11:g.(?_408719)_(765794_?)dup
NC_000021.8:g.(?_37133458)_(38311203_?)dup
NC_000021.9:g.(?_36930231)_(36930453_?)dup
NC_000023.10:g.(?_118986730)_(119603030_?)dup
NC_000023.10:g.(?_148564257)_(148586687_?)dup
NC_000023.10:g.(?_148579628)_(148579848_?)dup
NC_000023.11:g.(?_120431313)_(120469179_?)dup
NC_000023.11:g.(?_120441710)_(120449148_?)del
NM_000027.4(AGA):c.1030G>C (p.Asp344His) rs776865078
NM_000027.4(AGA):c.127+5G>A
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
NM_000027.4(AGA):c.376C>G (p.Leu126Val) rs200420067
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
NM_000027.4(AGA):c.538G>A (p.Gly180Arg) rs373865451
NM_000027.4(AGA):c.693A>G (p.Ile231Met) rs1579042146
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
NM_000027.4(AGA):c.793C>T (p.Arg265Cys) rs146710132
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn) rs200040980
NM_000046.5(ARSB):c.1213+6T>C rs1554074118
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala) rs769542268
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu) rs1554069775
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
NM_000046.5(ARSB):c.1502G>A (p.Arg501His) rs190643827
NM_000046.5(ARSB):c.312+4C>T
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr) rs146704780
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
NM_000046.5(ARSB):c.550A>G (p.Ile184Val) rs371812342
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile) rs200364654
NM_000046.5(ARSB):c.790C>A (p.His264Asn) rs558569339
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del) rs535493472
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
NM_000108.5(DLD):c.305A>T (p.His102Leu)
NM_000108.5(DLD):c.367A>G (p.Met123Val) rs111352707
NM_000108.5(DLD):c.470C>G (p.Thr157Ser) rs142232609
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.788G>A (p.Arg263His) rs145670503
NM_000108.5(DLD):c.814T>C (p.Phe272Leu) rs942843326
NM_000147.4(FUCA1):c.1274G>A (p.Gly425Glu) rs150422575
NM_000147.4(FUCA1):c.209C>T (p.Pro70Leu) rs770492031
NM_000147.4(FUCA1):c.433T>C (p.Trp145Arg) rs150062050
NM_000147.4(FUCA1):c.882G>C (p.Glu294Asp) rs1483687600
NM_000147.4(FUCA1):c.943G>A (p.Val315Ile) rs746590345
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
NM_000151.4(G6PC1):c.1007C>A (p.Ala336Glu)
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn) rs1555560204
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro) rs369472089
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe) rs756944737
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val) rs1567706564
NM_000152.5(GAA):c.-32-13T>C
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
NM_000152.5(GAA):c.1075+4G>A rs754290055
NM_000152.5(GAA):c.109C>G (p.Leu37Val) rs369775994
NM_000152.5(GAA):c.1103G>A (p.Gly368Asp)
NM_000152.5(GAA):c.1103G>T (p.Gly368Val) rs368244038
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
NM_000152.5(GAA):c.1114C>T (p.His372Tyr) rs1555600070
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
NM_000152.5(GAA):c.1147A>G (p.Ile383Val) rs794727837
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys) rs767821988
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu) rs756126944
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
NM_000152.5(GAA):c.1194+3G>C rs368539333
NM_000152.5(GAA):c.1194+6T>C rs1470004759
NM_000152.5(GAA):c.1195-8G>A rs1194778188
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520
NM_000152.5(GAA):c.11G>A (p.Arg4Lys) rs372147077
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe) rs777431563
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln) rs372799904
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro) rs372799904
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp) rs776704385
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser) rs1283810246
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu) rs765235868
NM_000152.5(GAA):c.1275G>A (p.Pro425=) rs762826072
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys) rs375433002
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg) rs201463496
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
NM_000152.5(GAA):c.1310G>A (p.Arg437His) rs150868652
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627
NM_000152.5(GAA):c.1324G>A (p.Val442Met) rs377559348
NM_000152.5(GAA):c.1327-7T>G
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile) rs145712232
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg) rs550065979
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
NM_000152.5(GAA):c.1372T>C (p.Tyr458His) rs1567832012
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp) rs199748889
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln) rs886053545
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.5(GAA):c.1396G>C (p.Val466Leu) rs375006053
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile) rs768500880
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser) rs201409613
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala) rs886043976
NM_000152.5(GAA):c.1426C>A (p.Leu476Met) rs756613882
NM_000152.5(GAA):c.1431T>G (p.Ile477Met) rs1598580369
NM_000152.5(GAA):c.1437+6G>A
NM_000152.5(GAA):c.1438-10C>G
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
NM_000152.5(GAA):c.1439T>C (p.Val480Ala) rs1224298513
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
NM_000152.5(GAA):c.148G>A (p.Glu50Lys) rs1555598609
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
NM_000152.5(GAA):c.1552-14_1552-1del rs1567833173
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg) rs1039935633
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser) rs368568190
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu) rs1598582130
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met) rs1598582152
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.1631T>A (p.Val544Glu) rs1567833361
NM_000152.5(GAA):c.1633C>T (p.Pro545Ser)
NM_000152.5(GAA):c.1642G>T (p.Val548Phe) rs1567834141
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
NM_000152.5(GAA):c.167A>T (p.His56Leu)
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu) rs886043997
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp) rs1555601255
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
NM_000152.5(GAA):c.1750C>A (p.His584Asn) rs780475756
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp) rs1555601273
NM_000152.5(GAA):c.1754+6G>C rs1282791373
NM_000152.5(GAA):c.1754G>A (p.Arg585Lys)
NM_000152.5(GAA):c.1755-3C>T
NM_000152.5(GAA):c.1757C>T (p.Ala586Val) rs770021831
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp) rs770983413
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.17C>A (p.Pro6Gln) rs771409180
NM_000152.5(GAA):c.17C>T (p.Pro6Leu) rs771409180
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser) rs940955642
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1844G>T (p.Gly615Val)
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala) rs1235035841
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1882G>A (p.Val628Met) rs745911962
NM_000152.5(GAA):c.1888+5G>T rs528282884
NM_000152.5(GAA):c.1888+6_1888+14del
NM_000152.5(GAA):c.1889-7C>G
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
NM_000152.5(GAA):c.1927G>T (p.Gly643Trp)
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
NM_000152.5(GAA):c.1943G>T (p.Gly648Val) rs1448515860
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu) rs770248553
NM_000152.5(GAA):c.1948C>A (p.Leu650Met) rs1359573192
NM_000152.5(GAA):c.194C>A (p.Pro65His) rs1482530928
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
NM_000152.5(GAA):c.197G>A (p.Arg66Gln) rs200202628
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr) rs916566117
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser) rs916566117
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
NM_000152.5(GAA):c.2040+4G>C rs1598585909
NM_000152.5(GAA):c.2041-4G>T rs775757700
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg) rs1484576607
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser) rs776486462
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys) rs1598586309
NM_000152.5(GAA):c.205C>G (p.Gln69Glu) rs370174315
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr) rs367632754
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
NM_000152.5(GAA):c.209C>A (p.Ala70Glu) rs775376321
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
NM_000152.5(GAA):c.2122C>A (p.His708Asn) rs149916476
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
NM_000152.5(GAA):c.2122C>T (p.His708Tyr) rs149916476
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2140C>T (p.His714Tyr) rs1332887976
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr) rs143324027
NM_000152.5(GAA):c.2156C>T (p.Ala719Val) rs146762316
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln) rs140376273
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe) rs1290010789
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu) rs1232306443
NM_000152.5(GAA):c.2190-10C>A rs1567838707
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.221G>A (p.Arg74His)
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu) rs767773929
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe) rs1347832021
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.223C>T (p.Pro75Ser) rs755561471
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser) rs148311222
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg) rs138183791
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys) rs760063214
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp)
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn)
NM_000152.5(GAA):c.229G>T (p.Ala77Ser) rs781365881
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2330C>T (p.Thr777Met) rs746779016
NM_000152.5(GAA):c.2330_2331+4dup rs762245732
NM_000152.5(GAA):c.2331+4A>C
NM_000152.5(GAA):c.2331G>A (p.Thr777=) rs375311693
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr) rs539031621
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg) rs148412962
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu) rs773498009
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser) rs745378120
NM_000152.5(GAA):c.2459C>T (p.Ala820Val) rs786204304
NM_000152.5(GAA):c.2459_2461del (p.Ala820del) rs1182634884
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe) rs758038288
NM_000152.5(GAA):c.247G>A (p.Asp83Asn) rs771101156
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
NM_000152.5(GAA):c.2481+5C>G rs1598592432
NM_000152.5(GAA):c.2481+6T>C rs1479232207
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg) rs1598593166
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) rs1555603057
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp) rs771259598
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys) rs752421149
NM_000152.5(GAA):c.2510G>A (p.Arg837His) rs746095374
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys) rs920085419
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
NM_000152.5(GAA):c.2529G>A (p.Leu843=)
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
NM_000152.5(GAA):c.2597A>T (p.Glu866Val) rs951742543
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp) rs1445358978
NM_000152.5(GAA):c.2609G>A (p.Arg870Gln) rs747076541
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly) rs769578772
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.2672G>A (p.Arg891His) rs199524847
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu) rs199524847
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065
NM_000152.5(GAA):c.2732C>T (p.Thr911Met) rs1027032995
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser) rs375021198
NM_000152.5(GAA):c.2761G>T (p.Val921Phe) rs1555603286
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu) rs1555603301
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr) rs1598594483
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
NM_000152.5(GAA):c.2799+2C>T rs1555603318
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
NM_000152.5(GAA):c.2819_2820insAG (p.Leu941fs)
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln) rs1034101189
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe) rs769312350
NM_000152.5(GAA):c.2845G>A (p.Val949Ile) rs183458422
NM_000152.5(GAA):c.286A>G (p.Lys96Glu) rs778816809
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
NM_000152.5(GAA):c.309C>T (p.Cys103=) rs373307393
NM_000152.5(GAA):c.310G>A (p.Glu104Lys) rs201902338
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
NM_000152.5(GAA):c.311_313del (p.Glu104del)
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
NM_000152.5(GAA):c.316C>G (p.Arg106Gly)
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106
NM_000152.5(GAA):c.319G>A (p.Gly107Ser) rs151323405
NM_000152.5(GAA):c.31C>G (p.Arg11Gly) rs772394815
NM_000152.5(GAA):c.31C>T (p.Arg11Trp) rs772394815
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
NM_000152.5(GAA):c.347G>C (p.Gly116Ala) rs754285414
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414
NM_000152.5(GAA):c.355G>A (p.Gly119Arg) rs1555598802
NM_000152.5(GAA):c.359C>G (p.Ala120Gly) rs779208773
NM_000152.5(GAA):c.362A>G (p.Gln121Arg) rs150284874
NM_000152.5(GAA):c.364A>G (p.Met122Val)
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
NM_000152.5(GAA):c.370C>G (p.Gln124Glu) rs1291571294
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
NM_000152.5(GAA):c.395G>C (p.Ser132Thr) rs772908626
NM_000152.5(GAA):c.412C>G (p.Leu138Val) rs761221259
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
NM_000152.5(GAA):c.425G>A (p.Ser142Asn) rs754195673
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
NM_000152.5(GAA):c.43G>A (p.Val15Ile) rs772157487
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
NM_000152.5(GAA):c.448G>A (p.Ala150Thr) rs991177340
NM_000152.5(GAA):c.452C>T (p.Thr151Ile) rs1567826289
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.461G>A (p.Arg154His)
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
NM_000152.5(GAA):c.487G>A (p.Asp163Asn) rs1204103099
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
NM_000152.5(GAA):c.49G>A (p.Ala17Thr) rs751425831
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205
NM_000152.5(GAA):c.503G>C (p.Arg168Pro) rs376685205
NM_000152.5(GAA):c.511G>A (p.Val171Met) rs886053543
NM_000152.5(GAA):c.514A>G (p.Met172Val) rs1307823755
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
NM_000152.5(GAA):c.532C>T (p.Arg178Cys) rs762439362
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535
NM_000152.5(GAA):c.539A>G (p.His180Arg)
NM_000152.5(GAA):c.545C>G (p.Thr182Arg) rs200524747
NM_000152.5(GAA):c.546+3G>A rs371405931
NM_000152.5(GAA):c.546+6C>T rs375727055
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198
NM_000152.5(GAA):c.566G>A (p.Arg189Lys) rs1598571878
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
NM_000152.5(GAA):c.576G>C (p.Glu192Asp) rs760655446
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
NM_000152.5(GAA):c.614C>T (p.Pro205Leu) rs775065551
NM_000152.5(GAA):c.625T>C (p.Tyr209His) rs930808379
NM_000152.5(GAA):c.631G>A (p.Val211Met) rs760995790
NM_000152.5(GAA):c.634G>A (p.Glu212Lys) rs768596085
NM_000152.5(GAA):c.643G>A (p.Glu215Lys) rs201286896
NM_000152.5(GAA):c.649C>T (p.Pro217Ser) rs1567827215
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036
NM_000152.5(GAA):c.663C>G (p.Ile221Met) rs142878958
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
NM_000152.5(GAA):c.682G>A (p.Gly228Ser) rs747150907
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
NM_000152.5(GAA):c.685C>T (p.Arg229Cys) rs375295347
NM_000152.5(GAA):c.686G>A (p.Arg229His) rs776509432
NM_000152.5(GAA):c.686G>C (p.Arg229Pro) rs776509432
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
NM_000152.5(GAA):c.704C>T (p.Thr235Met) rs752950890
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
NM_000152.5(GAA):c.725C>A (p.Ala242Glu) rs745861849
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.732G>C (p.Gln244His)
NM_000152.5(GAA):c.737T>G (p.Leu246Arg) rs1555599608
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298
NM_000152.5(GAA):c.758C>G (p.Pro253Arg) rs1169157671
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
NM_000152.5(GAA):c.76C>T (p.Leu26Phe) rs149761650
NM_000152.5(GAA):c.77T>G (p.Leu26Arg) rs1385098269
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994
NM_000152.5(GAA):c.787C>T (p.His263Tyr) rs1555599660
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.797C>T (p.Pro266Leu) rs1567828977
NM_000152.5(GAA):c.830C>T (p.Thr277Ile) rs1598575278
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
NM_000152.5(GAA):c.851C>G (p.Ala284Gly) rs147569830
NM_000152.5(GAA):c.851C>T (p.Ala284Val) rs147569830
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
NM_000152.5(GAA):c.858+10C>T rs758283022
NM_000152.5(GAA):c.858+4C>G rs886042706
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC rs3071247
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962
NM_000152.5(GAA):c.859-3C>T rs1356743231
NM_000152.5(GAA):c.859C>T (p.Pro287Ser) rs369735511
NM_000152.5(GAA):c.862G>A (p.Gly288Ser) rs200125735
NM_000152.5(GAA):c.863G>A (p.Gly288Asp) rs769074720
NM_000152.5(GAA):c.866C>T (p.Ala289Val) rs145903608
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702
NM_000152.5(GAA):c.883C>A (p.His295Asn)
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
NM_000152.5(GAA):c.910G>A (p.Gly304Ser) rs140301384
NM_000152.5(GAA):c.912C>T (p.Gly304=)
NM_000152.5(GAA):c.913G>A (p.Gly305Arg) rs200154987
NM_000152.5(GAA):c.918G>A (p.Ser306=) rs373276219
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212
NM_000152.5(GAA):c.924C>A (p.His308Gln) rs370105640
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
NM_000152.5(GAA):c.93_95del (p.Leu32del) rs1278892703
NM_000152.5(GAA):c.955+5G>A
NM_000152.5(GAA):c.955+5G>C
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
NM_000152.5(GAA):c.956-3C>T
NM_000152.5(GAA):c.956-8C>A
NM_000152.5(GAA):c.969G>T (p.Gln323His) rs1266693289
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
NM_000152.5(GAA):c.982C>T (p.Leu328Phe) rs1555599956
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp) rs536478616
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr)
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile) rs111033812
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819
NM_000155.4(GALT):c.157T>A (p.Trp53Arg) rs1131691837
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398
NM_000155.4(GALT):c.253-6C>A
NM_000155.4(GALT):c.253-6C>T
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.295T>A (p.Phe99Ile)
NM_000155.4(GALT):c.328+33G>A
NM_000155.4(GALT):c.32G>A (p.Arg11His) rs757632977
NM_000155.4(GALT):c.346C>G (p.Leu116Val)
NM_000155.4(GALT):c.367C>G (p.Arg123Gly) rs111033674
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
NM_000155.4(GALT):c.502_504del (p.Val168del)
NM_000155.4(GALT):c.508-29del rs111033711
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.587C>T (p.Pro196Leu) rs886042066
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.617A>G (p.Gln206Arg) rs1587239309
NM_000155.4(GALT):c.667C>T (p.Arg223Cys) rs111033750
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.773G>A (p.Arg258His)
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
NM_000155.4(GALT):c.820+4A>C rs398123186
NM_000155.4(GALT):c.827C>G (p.Ala276Gly) rs1564102003
NM_000155.4(GALT):c.844C>G (p.Leu282Val) rs111033772
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Tyr296_Ser297insMetAlaSerPhePro) rs886043498
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys) rs775789069
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala) rs756129254
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly) rs137852888
NM_000158.4(GBE1):c.1618+4A>G
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe) rs544404712
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys) rs370246900
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser) rs185631651
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro) rs761908536
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750
NM_000158.4(GBE1):c.783C>G (p.Ser261Arg) rs1559673607
NM_000158.4(GBE1):c.905T>C (p.Met302Thr) rs1189654498
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu) rs769252159
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
NM_000181.4(GUSB):c.1790-2dup
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
NM_000181.4(GUSB):c.1880G>A (p.Trp627Ter)
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg) rs776024156
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
NM_000181.4(GUSB):c.697G>A (p.Val233Ile) rs202210104
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
NM_000181.4(GUSB):c.918G>T (p.Gln306His) rs375828604
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val) rs202150579
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg) rs1434209913
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu) rs746037899
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu) rs150222010
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val) rs76375023
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys) rs900198526
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile) rs764585957
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys) rs761780038
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
NM_000199.5(SGSH):c.276C>G (p.His92Gln) rs201478799
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp) rs760996554
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
NM_000199.5(SGSH):c.532C>G (p.His178Asp) rs1598748596
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser) rs756437160
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly) rs374621913
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu) rs570170198
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys) rs1598742412
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
NM_000202.8(IDS):c.1144G>C (p.Asp382His) rs370125505
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
NM_000202.8(IDS):c.331G>C (p.Val111Leu) rs1602748386
NM_000202.8(IDS):c.389C>T (p.Thr130Ile) rs1557340233
NM_000202.8(IDS):c.438C>A (p.Thr146=)
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
NM_000202.8(IDS):c.608A>T (p.Glu203Val)
NM_000202.8(IDS):c.781C>T (p.Pro261Ser)
NM_000202.8(IDS):c.826G>C (p.Val276Leu)
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
NM_000203.5(IDUA):c.1190-10C>A
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del) rs1553917376
NM_000203.5(IDUA):c.1247A>C (p.His416Pro) rs1419725967
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp)
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg) rs895626490
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly) rs121965025
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser) rs1553917753
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
NM_000203.5(IDUA):c.493+6C>G
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
NM_000203.5(IDUA):c.539G>C (p.Trp180Ser)
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637
NM_000203.5(IDUA):c.793-5C>T
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe) rs766950553
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr) rs121965030
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu) rs377684568
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr) rs1461992821
NM_000262.3(NAGA):c.104G>A (p.Arg35His)
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln) rs144771084
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr) rs1569456853
NM_000262.3(NAGA):c.16G>A (p.Val6Met) rs1602499597
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr) rs749506008
NM_000262.3(NAGA):c.406G>C (p.Asp136His) rs186173534
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys) rs372458856
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
NM_000262.3(NAGA):c.983T>C (p.Met328Thr) rs140356002
NM_000263.4(NAGLU):c.104T>C (p.Leu35Pro)
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser) rs1459252305
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr) rs147293270
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro) rs569519789
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly) rs181735466
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
NM_000263.4(NAGLU):c.202_203insCCG (p.Gly68_Gly69insAla) rs1469781984
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val) rs540744217
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
NM_000263.4(NAGLU):c.214_237del (p.Ala72_Gly79del) rs1567890245
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln) rs141018386
NM_000263.4(NAGLU):c.459G>C (p.Glu153Asp)
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser) rs375458666
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
NM_000263.4(NAGLU):c.701G>A (p.Arg234His) rs886042073
NM_000263.4(NAGLU):c.701G>T (p.Arg234Leu)
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del) rs1602233040
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser) rs764996618
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr) rs1555933946
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg) rs1272572107
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val) rs863224145
NM_000284.4(PDHA1):c.759+26G>A rs1555934413
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser) rs1602229682
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
NM_000289.6(PFKM):c.1005A>G (p.Val335=) rs1454843075
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly) rs531875148
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile) rs774425888
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys) rs774921979
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe) rs370424471
NM_000289.6(PFKM):c.1992+5G>A
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser) rs1592832922
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser) rs1592727517
NM_000289.6(PFKM):c.59T>C (p.Val20Ala) rs755992543
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln) rs140545494
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val)
NM_000290.4(PGAM2):c.194G>A (p.Arg65His)
NM_000290.4(PGAM2):c.19G>A (p.Val7Met)
NM_000290.4(PGAM2):c.244G>A (p.Val82Met)
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys)
NM_000290.4(PGAM2):c.35_37del (p.Gly12del)
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
NM_000290.4(PGAM2):c.36C>T (p.Gly12=)
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu) rs1385458139
NM_000290.4(PGAM2):c.414+6C>T
NM_000290.4(PGAM2):c.415-3C>T rs201133395
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro)
NM_000290.4(PGAM2):c.576C>T (p.Gly192=)
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val) rs747760221
NM_000290.4(PGAM2):c.62G>A (p.Arg21His)
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
NM_000292.3(PHKA2):c.134G>A (p.Arg45Gln) rs1601781024
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn) rs778051353
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
NM_000292.3(PHKA2):c.1964-3C>T
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro) rs1569298640
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
NM_000292.3(PHKA2):c.2517+5G>A
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val) rs1601700586
NM_000292.3(PHKA2):c.3210_3212del (p.Arg1072del) rs1555989523
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn) rs1601776489
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu) rs1601685358
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val) rs367696431
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr) rs1601758342
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala)
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val)
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile)
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
NM_000293.3(PHKB):c.1730C>T (p.Pro577Leu) rs775984009
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn) rs1567341136
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
NM_000293.3(PHKB):c.245C>G (p.Ala82Gly) rs754835322
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)
NM_000293.3(PHKB):c.2677G>C (p.Asp893His)
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser) rs1400548271
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn)
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala)
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly)
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met) rs371541668
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys) rs151222947
NM_000293.3(PHKB):c.3175C>T (p.Pro1059Ser)
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn)
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022
NM_000293.3(PHKB):c.365T>C (p.Met122Thr)
NM_000293.3(PHKB):c.405+8_405+10del
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala) rs146558295
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro)
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg)
NM_000293.3(PHKB):c.604A>G (p.Ile202Val)
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys)
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala) rs137946010
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys) rs781197907
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu)
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser) rs746454503
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp)
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn) rs151033581
NM_000294.3(PHKG2):c.1184C>T (p.Ala395Val)
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
NM_000294.3(PHKG2):c.158_160del (p.Lys53del)
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys) rs753644625
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln) rs538127151
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln) rs138299462
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys) rs779594016
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr) rs535265672
NM_000294.3(PHKG2):c.271+6G>A
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser)
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys) rs1596677187
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala) rs780358808
NM_000294.3(PHKG2):c.911C>A (p.Pro304His) rs781099286
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln) rs145390070
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)
NM_000308.3(CTSA):c.1063G>C (p.Ala355Pro) rs374059459
NM_000308.3(CTSA):c.1143-3C>A rs764115103
NM_000308.3(CTSA):c.169C>G (p.Pro57Ala) rs1483740187
NM_000308.3(CTSA):c.49G>A (p.Ala17Thr) rs1471695726
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp)
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr)
NM_000308.4(CTSA):c.1074A>T (p.Gln358His)
NM_000308.4(CTSA):c.1088+3G>A
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val)
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr)
NM_000308.4(CTSA):c.357+3A>G
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr)
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr)
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr)
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro)
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln)
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp)
NM_000308.4(CTSA):c.948+5G>A
NM_000308.4(CTSA):c.977G>A (p.Arg326His)
NM_000340.2(SLC2A2):c.1069-10A>G rs1487335649
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr)
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg) rs760200790
NM_000340.2(SLC2A2):c.1359T>A (p.Cys453Ter)
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys) rs1560031152
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser) rs1576833940
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met) rs149460434
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del) rs774721090
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val)
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu)
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn)
NM_000343.4(SLC5A1):c.1370A>G (p.Gln457Arg) rs200401846
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His) rs201799893
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=)
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val) rs139037092
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln)
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.107A>G (p.Tyr36Cys)
NM_000404.4(GLB1):c.1255C>T (p.Arg419Trp)
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)
NM_000404.4(GLB1):c.1348-3C>G
NM_000404.4(GLB1):c.1388T>C (p.Leu463Pro)
NM_000404.4(GLB1):c.1479G>T (p.Lys493Asn) rs1172435886
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)
NM_000404.4(GLB1):c.1852G>A (p.Val618Met)
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys)
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg)
NM_000404.4(GLB1):c.376A>G (p.Ile126Val) rs886058343
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr) rs1416369501
NM_000404.4(GLB1):c.827A>C (p.His276Pro) rs1559401406
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)
NM_000404.4(GLB1):c.875C>G (p.Ser292Cys)
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala) rs1575445193
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser) rs41316538
NM_000507.4(FBP1):c.275C>T (p.Thr92Met) rs141270413
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln)
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg)
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr)
NM_000507.4(FBP1):c.916G>A (p.Val306Ile) rs865779742
NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro) rs759227114
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)
NM_000512.5(GALNS):c.120+4A>G
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1]) rs1567519128
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
NM_000512.5(GALNS):c.1482+4A>G
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe) rs1597515354
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn)
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)
NM_000512.5(GALNS):c.243A>G (p.Pro81=) rs759476855
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln) rs1177468816
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.566+6G>A
NM_000512.5(GALNS):c.602G>A (p.Gly201Glu)
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro) rs771810111
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp) rs146963745
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe) rs149239881
NM_000512.5(GALNS):c.898+4A>G
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser)
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp) rs1567526988
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn) rs377285422
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro) rs1597559500
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu) rs745579139
NM_000528.4(MAN2B1):c.1230+5G>T rs1398531876
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu) rs141650075
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu)
NM_000528.4(MAN2B1):c.1568A>C (p.Asn523Thr)
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp)
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu) rs766513928
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn)
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del) rs1599344435
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys)
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)
NM_000528.4(MAN2B1):c.2046+6G>T
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile) rs561720564
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile)
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu) rs938995975
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe)
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg)
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro)
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg)
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln)
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile) rs755553683
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu)
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile)
NM_000528.4(MAN2B1):c.2917A>G (p.Asn973Asp) rs148080695
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser) rs753397171
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
NM_000528.4(MAN2B1):c.469A>T (p.Met157Leu)
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp) rs201448121
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile)
NM_000642.3(AGL):c.1010A>C (p.Gln337Pro)
NM_000642.3(AGL):c.101G>A (p.Arg34Gln) rs746265668
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln) rs137943515
NM_000642.3(AGL):c.1033G>A (p.Gly345Ser)
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
NM_000642.3(AGL):c.1050G>A (p.Met350Ile) rs140872573
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
NM_000642.3(AGL):c.1064C>A (p.Thr355Lys) rs557516658
NM_000642.3(AGL):c.1064C>T (p.Thr355Met) rs557516658
NM_000642.3(AGL):c.106G>A (p.Gly36Ser)
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu) rs558217174
NM_000642.3(AGL):c.1076_1078dup (p.Pro359dup)
NM_000642.3(AGL):c.1078C>T (p.His360Tyr) rs763554006
NM_000642.3(AGL):c.1082+3A>G
NM_000642.3(AGL):c.1082+4T>A rs781204563
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
NM_000642.3(AGL):c.1186-3C>G
NM_000642.3(AGL):c.1187C>T (p.Ala396Val) rs747879201
NM_000642.3(AGL):c.1196G>A (p.Cys399Tyr) rs1336333560
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
NM_000642.3(AGL):c.11G>A (p.Ser4Asn)
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg) rs200459772
NM_000642.3(AGL):c.1234C>T (p.His412Tyr)
NM_000642.3(AGL):c.1235A>G (p.His412Arg)
NM_000642.3(AGL):c.1237G>A (p.Gly413Ser)
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu) rs758882822
NM_000642.3(AGL):c.1250G>C (p.Gly417Ala) rs754419745
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly) rs150637770
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
NM_000642.3(AGL):c.1284G>A (p.Arg428=)
NM_000642.3(AGL):c.1310T>G (p.Ile437Arg)
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
NM_000642.3(AGL):c.1333A>G (p.Met445Val) rs140375476
NM_000642.3(AGL):c.136G>A (p.Val46Met) rs762935611
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
NM_000642.3(AGL):c.1372C>A (p.His458Asn)
NM_000642.3(AGL):c.1381T>C (p.Trp461Arg)
NM_000642.3(AGL):c.1388T>A (p.Met463Lys)
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg) rs146493448
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu) rs146493448
NM_000642.3(AGL):c.1423+3A>G rs766117687
NM_000642.3(AGL):c.1424-7T>A
NM_000642.3(AGL):c.1424G>T (p.Gly475Val) rs538916479
NM_000642.3(AGL):c.1429G>C (p.Glu477Gln)
NM_000642.3(AGL):c.1432G>A (p.Val478Ile) rs527819721
NM_000642.3(AGL):c.1457G>A (p.Cys486Tyr)
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys) rs199660743
NM_000642.3(AGL):c.1484A>G (p.Tyr495Cys)
NM_000642.3(AGL):c.151C>T (p.Pro51Ser)
NM_000642.3(AGL):c.1526T>G (p.Met509Arg)
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser) rs143987049
NM_000642.3(AGL):c.1541A>G (p.Glu514Gly)
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala) rs754606378
NM_000642.3(AGL):c.1553C>G (p.Thr518Ser) rs1293030648
NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp)
NM_000642.3(AGL):c.1570C>T (p.Arg524Cys)
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly) rs777393482
NM_000642.3(AGL):c.1582T>A (p.Cys528Ser) rs1570438541
NM_000642.3(AGL):c.1611+6G>A
NM_000642.3(AGL):c.1612-8T>A rs1557762522
NM_000642.3(AGL):c.1615A>G (p.Met539Val) rs764106633
NM_000642.3(AGL):c.1627G>A (p.Ala543Thr)
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
NM_000642.3(AGL):c.1661C>T (p.Ala554Val)
NM_000642.3(AGL):c.1671C>A (p.Phe557Leu)
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn) rs1365513585
NM_000642.3(AGL):c.1693A>G (p.Asn565Asp)
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser) rs180768312
NM_000642.3(AGL):c.1715G>T (p.Gly572Val)
NM_000642.3(AGL):c.1718_1720dup (p.Ile573dup) rs1553186221
NM_000642.3(AGL):c.1729A>G (p.Ile577Val) rs762529905
NM_000642.3(AGL):c.1735+5dup rs766616589
NM_000642.3(AGL):c.1768G>A (p.Gly590Ser)
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
NM_000642.3(AGL):c.1846A>G (p.Ile616Val) rs371115206
NM_000642.3(AGL):c.1864A>C (p.Met622Leu)
NM_000642.3(AGL):c.1864A>G (p.Met622Val) rs145517369
NM_000642.3(AGL):c.186C>G (p.Phe62Leu)
NM_000642.3(AGL):c.1874C>T (p.Thr625Met) rs147569805
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
NM_000642.3(AGL):c.1883A>G (p.Asn628Ser)
NM_000642.3(AGL):c.188G>A (p.Arg63His)
NM_000642.3(AGL):c.1892C>G (p.Pro631Arg) rs1553186376
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr) rs138823746
NM_000642.3(AGL):c.1899+3A>G
NM_000642.3(AGL):c.1899+9C>G
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr) rs372501843
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala) rs576969969
NM_000642.3(AGL):c.1936A>G (p.Ile646Val) rs376666809
NM_000642.3(AGL):c.1939G>A (p.Val647Ile) rs770836797
NM_000642.3(AGL):c.193C>G (p.Leu65Val) rs772086117
NM_000642.3(AGL):c.1943C>G (p.Ser648Cys) rs1229397880
NM_000642.3(AGL):c.1945A>G (p.Met649Val)
NM_000642.3(AGL):c.1972A>G (p.Arg658Gly)
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser) rs188519129
NM_000642.3(AGL):c.2001+8_2001+9delinsCG
NM_000642.3(AGL):c.2011G>A (p.Val671Ile)
NM_000642.3(AGL):c.2024G>A (p.Arg675Gln) rs752995564
NM_000642.3(AGL):c.2051C>T (p.Ala684Val) rs1284824337
NM_000642.3(AGL):c.2053T>G (p.Leu685Val)
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)
NM_000642.3(AGL):c.2069G>T (p.Gly690Val) rs749075109
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg) rs778021848
NM_000642.3(AGL):c.2089G>A (p.Gly697Ser) rs771211030
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys) rs771211030
NM_000642.3(AGL):c.2091C>T (p.Gly697=) rs759619501
NM_000642.3(AGL):c.209C>T (p.Pro70Leu)
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)
NM_000642.3(AGL):c.2125C>T (p.His709Tyr)
NM_000642.3(AGL):c.2137G>A (p.Gly713Arg) rs763281839
NM_000642.3(AGL):c.2157+4A>T rs1178861512
NM_000642.3(AGL):c.2172A>G (p.Gln724=) rs1553186596
NM_000642.3(AGL):c.2181_2183del (p.Glu727del)
NM_000642.3(AGL):c.2204A>C (p.His735Pro) rs749756974
NM_000642.3(AGL):c.2209C>T (p.Pro737Ser) rs1369361901
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile)
NM_000642.3(AGL):c.2215A>G (p.Ile739Val)
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg) rs773044002
NM_000642.3(AGL):c.222A>T (p.Glu74Asp)
NM_000642.3(AGL):c.223G>A (p.Asp75Asn)
NM_000642.3(AGL):c.2242A>G (p.Arg748Gly)
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser) rs139950099
NM_000642.3(AGL):c.224A>G (p.Asp75Gly) rs142368729
NM_000642.3(AGL):c.2264A>G (p.Lys755Arg)
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu) rs746130741
NM_000642.3(AGL):c.2279G>A (p.Ser760Asn)
NM_000642.3(AGL):c.2303T>A (p.Ile768Asn)
NM_000642.3(AGL):c.2308+4A>G rs773741361
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg) rs149914040
NM_000642.3(AGL):c.2310C>T (p.Gly770=) rs1570450663
NM_000642.3(AGL):c.2314A>C (p.Ile772Leu) rs1237999305
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
NM_000642.3(AGL):c.235A>G (p.Lys79Glu)
NM_000642.3(AGL):c.2372A>G (p.Lys791Arg)
NM_000642.3(AGL):c.2386A>G (p.Ile796Val)
NM_000642.3(AGL):c.239A>G (p.Tyr80Cys) rs1284127927
NM_000642.3(AGL):c.2402A>G (p.Asp801Gly) rs778492877
NM_000642.3(AGL):c.2413G>A (p.Glu805Lys)
NM_000642.3(AGL):c.241T>C (p.Cys81Arg) rs201584227
NM_000642.3(AGL):c.2441A>C (p.Glu814Ala) rs1316494416
NM_000642.3(AGL):c.2446A>G (p.Lys816Glu)
NM_000642.3(AGL):c.2465G>C (p.Gly822Ala) rs752820851
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser) rs199554089
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln) rs752153469
NM_000642.3(AGL):c.248T>G (p.Leu83Arg) rs560703902
NM_000642.3(AGL):c.2505A>G (p.Ile835Met)
NM_000642.3(AGL):c.2506G>A (p.Glu836Lys) rs781573434
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr)
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly) rs374531404
NM_000642.3(AGL):c.2560C>A (p.Pro854Thr)
NM_000642.3(AGL):c.2571A>G (p.Gln857=) rs373619867
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr) rs773083396
NM_000642.3(AGL):c.2578G>A (p.Val860Ile)
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln) rs776599112
NM_000642.3(AGL):c.2597A>T (p.His866Leu)
NM_000642.3(AGL):c.25A>G (p.Ile9Val) rs1263396578
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359
NM_000642.3(AGL):c.261A>G (p.Gln87=) rs370304606
NM_000642.3(AGL):c.2623A>G (p.Lys875Glu) rs750932668
NM_000642.3(AGL):c.2632A>C (p.Ser878Arg) rs146049603
NM_000642.3(AGL):c.2654A>G (p.Asp885Gly) rs867149434
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu) rs149331873
NM_000642.3(AGL):c.265G>T (p.Gly89Cys)
NM_000642.3(AGL):c.2671C>T (p.Pro891Ser) rs777738895
NM_000642.3(AGL):c.2677G>C (p.Ala893Pro)
NM_000642.3(AGL):c.2678C>T (p.Ala893Val)
NM_000642.3(AGL):c.2681+4dup rs754242194
NM_000642.3(AGL):c.2687C>G (p.Ala896Gly)
NM_000642.3(AGL):c.2694A>T (p.Arg898Ser) rs757076841
NM_000642.3(AGL):c.2707G>A (p.Glu903Lys)
NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet) rs1288036533
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559
NM_000642.3(AGL):c.2729G>A (p.Arg910Gln)
NM_000642.3(AGL):c.2761G>A (p.Gly921Arg)
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala) rs761479006
NM_000642.3(AGL):c.2798A>G (p.Tyr933Cys)
NM_000642.3(AGL):c.2818A>G (p.Met940Val)
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)
NM_000642.3(AGL):c.2884T>A (p.Ser962Thr)
NM_000642.3(AGL):c.2897T>C (p.Met966Thr)
NM_000642.3(AGL):c.2903A>G (p.Asp968Gly) rs1447342458
NM_000642.3(AGL):c.2909T>C (p.Val970Ala) rs1570463733
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp) rs370787356
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
NM_000642.3(AGL):c.292G>A (p.Gly98Arg) rs1557746870
NM_000642.3(AGL):c.293+3A>G rs375459662
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)
NM_000642.3(AGL):c.2941A>G (p.Ile981Val) rs148981763
NM_000642.3(AGL):c.2942T>C (p.Ile981Thr)
NM_000642.3(AGL):c.2944G>A (p.Ala982Thr) rs781463740
NM_000642.3(AGL):c.2949+2dup rs1553188589
NM_000642.3(AGL):c.2949+6T>C
NM_000642.3(AGL):c.2950-5T>G rs760229683
NM_000642.3(AGL):c.2950G>A (p.Val984Ile) rs1160721945
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg) rs759461084
NM_000642.3(AGL):c.3010C>G (p.Pro1004Ala)
NM_000642.3(AGL):c.3020T>C (p.Phe1007Ser)
NM_000642.3(AGL):c.3026C>T (p.Ala1009Val) rs200129247
NM_000642.3(AGL):c.3040G>A (p.Ala1014Thr)
NM_000642.3(AGL):c.3046A>T (p.Thr1016Ser)
NM_000642.3(AGL):c.3049A>G (p.Thr1017Ala)
NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)
NM_000642.3(AGL):c.3077T>C (p.Met1026Thr) rs1570464667
NM_000642.3(AGL):c.3084-5T>G
NM_000642.3(AGL):c.30A>T (p.Leu10Phe) rs746137555
NM_000642.3(AGL):c.310G>A (p.Gly104Arg) rs745610775
NM_000642.3(AGL):c.3116A>T (p.His1039Leu)
NM_000642.3(AGL):c.3119T>C (p.Leu1040Pro)
NM_000642.3(AGL):c.311G>T (p.Gly104Val)
NM_000642.3(AGL):c.3124T>G (p.Leu1042Val)
NM_000642.3(AGL):c.3127G>T (p.Gly1043Cys) rs1422201126
NM_000642.3(AGL):c.3133G>C (p.Val1045Leu) rs747339245
NM_000642.3(AGL):c.3166C>G (p.Leu1056Val) rs774124715
NM_000642.3(AGL):c.317A>T (p.Tyr106Phe)
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)
NM_000642.3(AGL):c.3199C>G (p.Pro1067Ala)
NM_000642.3(AGL):c.3207G>C (p.Arg1069Ser)
NM_000642.3(AGL):c.3242G>A (p.Cys1081Tyr) rs147375385
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
NM_000642.3(AGL):c.3278C>A (p.Ser1093Tyr) rs1316336745
NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu) rs762157090
NM_000642.3(AGL):c.3283A>G (p.Ile1095Val)
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
NM_000642.3(AGL):c.3290G>A (p.Arg1097His) rs185947256
NM_000642.3(AGL):c.3310T>G (p.Phe1104Val)
NM_000642.3(AGL):c.3311T>G (p.Phe1104Cys)
NM_000642.3(AGL):c.3316G>A (p.Ala1106Thr)
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys) rs773625464
NM_000642.3(AGL):c.3347G>T (p.Arg1116Leu) rs746779518
NM_000642.3(AGL):c.3359C>G (p.Ala1120Gly) rs1233797859
NM_000642.3(AGL):c.3362+5G>T
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val) rs1225426505
NM_000642.3(AGL):c.3386G>A (p.Gly1129Asp)
NM_000642.3(AGL):c.3400G>A (p.Gly1134Ser) rs146615251
NM_000642.3(AGL):c.340C>T (p.Arg114Cys) rs760763834
NM_000642.3(AGL):c.3416T>G (p.Leu1139Arg) rs1281040074
NM_000642.3(AGL):c.3419T>G (p.Leu1140Arg)
NM_000642.3(AGL):c.341G>A (p.Arg114His) rs150146360
NM_000642.3(AGL):c.341G>C (p.Arg114Pro) rs150146360
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp) rs370797337
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
NM_000642.3(AGL):c.3457G>A (p.Ala1153Thr)
NM_000642.3(AGL):c.3477G>C (p.Gln1159His) rs1570482572
NM_000642.3(AGL):c.3493T>A (p.Cys1165Ser) rs1570482637
NM_000642.3(AGL):c.3528G>T (p.Lys1176Asn)
NM_000642.3(AGL):c.3531C>G (p.Cys1177Trp)
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser) rs769812980
NM_000642.3(AGL):c.3535G>T (p.Val1179Phe) rs1553190315
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile) rs758562610
NM_000642.3(AGL):c.3548A>G (p.Tyr1183Cys)
NM_000642.3(AGL):c.3551C>T (p.Pro1184Leu) rs374498927
NM_000642.3(AGL):c.3560A>G (p.Asp1187Gly)
NM_000642.3(AGL):c.3581G>A (p.Gly1194Asp)
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg) rs148930543
NM_000642.3(AGL):c.3584C>T (p.Thr1195Ile) rs148930543
NM_000642.3(AGL):c.3611T>C (p.Ile1204Thr) rs777686689
NM_000642.3(AGL):c.3626A>G (p.Gln1209Arg)
NM_000642.3(AGL):c.3634A>T (p.Met1212Leu)
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
NM_000642.3(AGL):c.3652C>G (p.Arg1218Gly)
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln) rs772774189
NM_000642.3(AGL):c.365T>C (p.Leu122Pro) rs1557747438
NM_000642.3(AGL):c.3670C>T (p.Pro1224Ser) rs1417784168
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
NM_000642.3(AGL):c.3683G>A (p.Arg1228Gln) rs147214287
NM_000642.3(AGL):c.3692A>G (p.Lys1231Arg) rs750507211
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys) rs375254875
NM_000642.3(AGL):c.3700+6G>A
NM_000642.3(AGL):c.372G>A (p.Leu124=)
NM_000642.3(AGL):c.3746A>T (p.Tyr1249Phe) rs1198709856
NM_000642.3(AGL):c.3755A>G (p.Asn1252Ser)
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu) rs1324875747
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)
NM_000642.3(AGL):c.3789G>T (p.Met1263Ile)
NM_000642.3(AGL):c.3802A>G (p.Arg1268Gly)
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser) rs892629109
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)
NM_000642.3(AGL):c.3836+3A>G rs372921189
NM_000642.3(AGL):c.3836+4G>A rs1488570554
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu) rs778956378
NM_000642.3(AGL):c.385C>G (p.Leu129Val)
NM_000642.3(AGL):c.385C>T (p.Leu129Phe) rs749109793
NM_000642.3(AGL):c.3883C>G (p.Arg1295Gly) rs1238498134
NM_000642.3(AGL):c.3883C>T (p.Arg1295Cys)
NM_000642.3(AGL):c.3884G>A (p.Arg1295His) rs140481863
NM_000642.3(AGL):c.3884G>T (p.Arg1295Leu) rs140481863
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp) rs749445010
NM_000642.3(AGL):c.3894G>A (p.Leu1298=) rs769025250
NM_000642.3(AGL):c.3912T>A (p.Asn1304Lys) rs1570508523
NM_000642.3(AGL):c.3913A>G (p.Ile1305Val)
NM_000642.3(AGL):c.3920C>G (p.Pro1307Arg)
NM_000642.3(AGL):c.3927T>A (p.His1309Gln)
NM_000642.3(AGL):c.3938T>G (p.Val1313Gly) rs1557789904
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly)
NM_000642.3(AGL):c.3968C>T (p.Ser1323Leu)
NM_000642.3(AGL):c.3976G>A (p.Glu1326Lys)
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly) rs777095374
NM_000642.3(AGL):c.3990A>C (p.Lys1330Asn)
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg) rs41285740
NM_000642.3(AGL):c.4076G>A (p.Arg1359His) rs201533636
NM_000642.3(AGL):c.4079G>A (p.Gly1360Asp) rs1361507097
NM_000642.3(AGL):c.4081A>C (p.Ile1361Leu)
NM_000642.3(AGL):c.4120G>C (p.Asp1374His) rs1553192955
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val)
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp) rs1570514873
NM_000642.3(AGL):c.4177A>G (p.Thr1393Ala)
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu) rs772026557
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met) rs1553193234
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr) rs760699630
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly) rs28730708
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val) rs758570060
NM_000642.3(AGL):c.4225C>T (p.Leu1409Phe)
NM_000642.3(AGL):c.4231C>T (p.Pro1411Ser) rs1557792779
NM_000642.3(AGL):c.4259+3A>T
NM_000642.3(AGL):c.4260-3C>T
NM_000642.3(AGL):c.4261G>A (p.Asp1421Asn)
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly) rs761264157
NM_000642.3(AGL):c.4271A>T (p.Tyr1424Phe)
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser) rs150532164
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp) rs146154694
NM_000642.3(AGL):c.4301A>G (p.Asn1434Ser)
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
NM_000642.3(AGL):c.4318G>A (p.Ala1440Thr)
NM_000642.3(AGL):c.4325G>A (p.Gly1442Asp)
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile) rs143815159
NM_000642.3(AGL):c.4336C>T (p.His1446Tyr)
NM_000642.3(AGL):c.4337A>G (p.His1446Arg)
NM_000642.3(AGL):c.4341A>G (p.Gln1447=) rs376486225
NM_000642.3(AGL):c.4363A>T (p.Ile1455Phe) rs766952829
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
NM_000642.3(AGL):c.4382C>G (p.Ala1461Gly) rs749209422
NM_000642.3(AGL):c.4405A>G (p.Met1469Val) rs747171944
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
NM_000642.3(AGL):c.4436T>C (p.Val1479Ala) rs770178156
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile) rs75076115
NM_000642.3(AGL):c.4450G>T (p.Val1484Phe)
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly) rs774708890
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr) rs374651629
NM_000642.3(AGL):c.4492A>G (p.Lys1498Glu)
NM_000642.3(AGL):c.4564A>G (p.Ile1522Val)
NM_000642.3(AGL):c.4570A>G (p.Thr1524Ala)
NM_000642.3(AGL):c.4583C>T (p.Thr1528Ile)
NM_000642.3(AGL):c.467A>G (p.Asn156Ser) rs369767463
NM_000642.3(AGL):c.4G>A (p.Gly2Arg)
NM_000642.3(AGL):c.545A>C (p.Asn182Thr)
NM_000642.3(AGL):c.566A>G (p.Asn189Ser) rs1571232301
NM_000642.3(AGL):c.60G>C (p.Lys20Asn)
NM_000642.3(AGL):c.622T>C (p.Trp208Arg) rs202084554
NM_000642.3(AGL):c.64C>T (p.Leu22Phe)
NM_000642.3(AGL):c.656A>G (p.Asn219Ser) rs893488693
NM_000642.3(AGL):c.662C>T (p.Thr221Ile)
NM_000642.3(AGL):c.681G>C (p.Trp227Cys) rs753914653
NM_000642.3(AGL):c.703G>A (p.Ala235Thr) rs1571242911
NM_000642.3(AGL):c.719A>G (p.Asn240Ser)
NM_000642.3(AGL):c.71G>C (p.Arg24Thr)
NM_000642.3(AGL):c.71G>T (p.Arg24Ile)
NM_000642.3(AGL):c.736C>G (p.Pro246Ala)
NM_000642.3(AGL):c.754A>G (p.Arg252Gly) rs373804474
NM_000642.3(AGL):c.766C>T (p.Arg256Cys) rs757347826
NM_000642.3(AGL):c.767G>A (p.Arg256His) rs200180652
NM_000642.3(AGL):c.775T>C (p.Cys259Arg)
NM_000642.3(AGL):c.782T>G (p.Val261Gly)
NM_000642.3(AGL):c.795A>C (p.Lys265Asn)
NM_000642.3(AGL):c.814C>A (p.Pro272Thr)
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
NM_000642.3(AGL):c.837C>A (p.His279Gln) rs1242665410
NM_000642.3(AGL):c.83G>A (p.Gly28Glu)
NM_000642.3(AGL):c.841A>G (p.Met281Val) rs185838959
NM_000642.3(AGL):c.846+8T>A rs372517543
NM_000642.3(AGL):c.847-7T>A rs750785301
NM_000642.3(AGL):c.854G>A (p.Arg285Gln) rs144817648
NM_000642.3(AGL):c.864T>G (p.Ile288Met) rs771965730
NM_000642.3(AGL):c.874A>C (p.Ile292Leu)
NM_000642.3(AGL):c.880C>T (p.Pro294Ser) rs886044917
NM_000642.3(AGL):c.885G>C (p.Lys295Asn) rs778977370
NM_000642.3(AGL):c.887T>G (p.Leu296Arg) rs748142986
NM_000642.3(AGL):c.88G>A (p.Glu30Lys)
NM_000642.3(AGL):c.919A>T (p.Asn307Tyr)
NM_000642.3(AGL):c.926C>T (p.Ala309Val)
NM_000642.3(AGL):c.931G>A (p.Glu311Lys) rs1553184646
NM_000642.3(AGL):c.949C>T (p.Leu317Phe) rs1557754822
NM_000642.3(AGL):c.959-72_965dup rs1553185268
NM_000642.3(AGL):c.996C>A (p.His332Gln)
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
NM_000925.4(PDHB):c.1057A>G (p.Ile353Val)
NM_000925.4(PDHB):c.292G>A (p.Gly98Ser)
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser) rs139242990
NM_000925.4(PDHB):c.701-3C>T rs377063331
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
NM_001008216.2(GALE):c.13G>T (p.Val5Leu) rs1570635677
NM_001008216.2(GALE):c.140A>C (p.Glu47Ala) rs367768055
NM_001008216.2(GALE):c.151C>T (p.Arg51Trp)
NM_001008216.2(GALE):c.187G>C (p.Glu63Gln)
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr) rs542486536
NM_001008216.2(GALE):c.31G>T (p.Ala11Ser)
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)
NM_001008216.2(GALE):c.382G>A (p.Val128Met) rs778887800
NM_001008216.2(GALE):c.409G>A (p.Gly137Arg)
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
NM_001008216.2(GALE):c.488T>G (p.Phe163Cys) rs1570632874
NM_001008216.2(GALE):c.602C>T (p.Pro201Leu) rs199904829
NM_001008216.2(GALE):c.611T>C (p.Ile204Thr)
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) rs764909409
NM_001008216.2(GALE):c.659G>C (p.Arg220Pro) rs756780233
NM_001008216.2(GALE):c.710G>A (p.Gly237Asp) rs756944736
NM_001008216.2(GALE):c.713T>C (p.Val238Ala)
NM_001008216.2(GALE):c.728A>C (p.His243Pro)
NM_001008216.2(GALE):c.755T>C (p.Ile252Thr) rs148834880
NM_001008216.2(GALE):c.760G>A (p.Ala254Thr) rs926654478
NM_001008216.2(GALE):c.812C>T (p.Thr271Met)
NM_001008216.2(GALE):c.873+6C>T rs1553130228
NM_001008216.2(GALE):c.873G>A (p.Lys291=) rs1570630092
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
NM_001008216.2(GALE):c.899G>A (p.Arg300Gln)
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys) rs780393850
NM_001008216.2(GALE):c.973G>A (p.Gly325Arg) rs770436207
NM_001008216.2(GALE):c.979G>C (p.Asp327His) rs150326189
NM_001008216.2(GALE):c.97G>A (p.Asp33Asn) rs727503945
NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr)
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr) rs1464614105
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr)
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg)
NM_001040716.2(PC):c.1512C>T (p.Leu504=) rs763298490
NM_001040716.2(PC):c.1524G>A (p.Met508Ile)
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr)
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg)
NM_001040716.2(PC):c.2227A>G (p.Met743Val) rs1591118129
NM_001040716.2(PC):c.2423C>A (p.Pro808His) rs1591116883
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp)
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
NM_001040716.2(PC):c.2804C>T (p.Ala935Val) rs139540331
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
NM_001040716.2(PC):c.331G>A (p.Val111Ile) rs753573264
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
NM_001040716.2(PC):c.3391G>A (p.Val1131Met) rs116518022
NM_001040716.2(PC):c.3462G>C (p.Glu1154Asp) rs373287823
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
NM_001040716.2(PC):c.485C>T (p.Ala162Val) rs752714051
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454
NM_001040716.2(PC):c.50G>A (p.Arg17His) rs375282341
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
NM_001079803.3(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_001122606.1(LAMP2):c.1094-2717G>A rs1556078130
NM_001122606.1(LAMP2):c.1094-2790G>A rs1029569080
NM_001122606.1(LAMP2):c.1094-2804C>A rs1006753991
NM_001127695.2(CTSA):c.51_54delinsC (p.Leu19del) rs886039898
NM_001164277.1(SLC37A4):c.1004G>A (p.Gly335Glu) rs1326123837
NM_001164277.1(SLC37A4):c.100G>A (p.Val34Ile)
NM_001164277.1(SLC37A4):c.1012T>C (p.Phe338Leu) rs200662873
NM_001164277.1(SLC37A4):c.1073C>T (p.Pro358Leu)
NM_001164277.1(SLC37A4):c.1099G>A (p.Ala367Thr) rs80356492
NM_001164277.1(SLC37A4):c.1103T>C (p.Ile368Thr)
NM_001164277.1(SLC37A4):c.1117G>A (p.Ala373Thr) rs1565686175
NM_001164277.1(SLC37A4):c.1168C>T (p.His390Tyr) rs199764888
NM_001164277.1(SLC37A4):c.1175G>A (p.Ser392Asn) rs1035199340
NM_001164277.1(SLC37A4):c.1214C>T (p.Ala405Val) rs782753044
NM_001164277.1(SLC37A4):c.1220G>C (p.Ser407Thr) rs863224212
NM_001164277.1(SLC37A4):c.1252C>T (p.Arg418Cys) rs376140990
NM_001164277.1(SLC37A4):c.1256C>T (p.Thr419Ile)
NM_001164277.1(SLC37A4):c.127C>T (p.Pro43Ser)
NM_001164277.1(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794
NM_001164277.1(SLC37A4):c.13G>A (p.Gly5Ser)
NM_001164277.1(SLC37A4):c.141T>G (p.Asp47Glu) rs373540523
NM_001164277.1(SLC37A4):c.148+4A>G
NM_001164277.1(SLC37A4):c.148+6C>T rs1565691594
NM_001164277.1(SLC37A4):c.149G>A (p.Gly50Glu) rs193302877
NM_001164277.1(SLC37A4):c.154A>C (p.Ile52Leu) rs1565690903
NM_001164277.1(SLC37A4):c.185T>G (p.Ile62Ser) rs1555191621
NM_001164277.1(SLC37A4):c.205G>T (p.Val69Leu) rs375754042
NM_001164277.1(SLC37A4):c.21C>G (p.Gly7=) rs370153031
NM_001164277.1(SLC37A4):c.230G>A (p.Arg77His)
NM_001164277.1(SLC37A4):c.23A>G (p.Tyr8Cys)
NM_001164277.1(SLC37A4):c.242C>T (p.Ser81Phe) rs181879065
NM_001164277.1(SLC37A4):c.297A>G (p.Thr99=)
NM_001164277.1(SLC37A4):c.29G>A (p.Arg10His)
NM_001164277.1(SLC37A4):c.309T>G (p.Phe103Leu) rs1171686379
NM_001164277.1(SLC37A4):c.332G>A (p.Gly111Asp) rs1356550790
NM_001164277.1(SLC37A4):c.364G>A (p.Gly122Arg) rs1254956942
NM_001164277.1(SLC37A4):c.376C>T (p.Arg126Trp)
NM_001164277.1(SLC37A4):c.377G>A (p.Arg126Gln) rs78735156
NM_001164277.1(SLC37A4):c.492C>A (p.Ser164Arg) rs369399624
NM_001164277.1(SLC37A4):c.515C>T (p.Ser172Phe) rs750732128
NM_001164277.1(SLC37A4):c.539C>G (p.Ser180Cys) rs374991345
NM_001164277.1(SLC37A4):c.544C>T (p.Leu182Phe)
NM_001164277.1(SLC37A4):c.560T>C (p.Ile187Thr) rs1452797070
NM_001164277.1(SLC37A4):c.590G>A (p.Arg197His) rs377180238
NM_001164277.1(SLC37A4):c.600C>G (p.Asp200Glu) rs1565689207
NM_001164277.1(SLC37A4):c.606G>A (p.Met202Ile)
NM_001164277.1(SLC37A4):c.631T>G (p.Leu211Val) rs537115620
NM_001164277.1(SLC37A4):c.700C>T (p.Leu234Phe) rs782616313
NM_001164277.1(SLC37A4):c.761A>G (p.Glu254Gly)
NM_001164277.1(SLC37A4):c.76T>C (p.Phe26Leu) rs1468641405
NM_001164277.1(SLC37A4):c.784+3A>G rs373543021
NM_001164277.1(SLC37A4):c.80A>G (p.Asn27Ser) rs782308530
NM_001164277.1(SLC37A4):c.857G>A (p.Arg286Gln) rs548684318
NM_001164277.1(SLC37A4):c.871-6C>G rs781985446
NM_001164277.1(SLC37A4):c.872C>G (p.Ala291Gly)
NM_001164277.1(SLC37A4):c.878T>C (p.Leu293Pro) rs886042302
NM_001164277.1(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)
NM_001164277.1(SLC37A4):c.891G>T (p.Gly297=)
NM_001164277.1(SLC37A4):c.955C>T (p.Arg319Trp)
NM_001164277.2(SLC37A4):c.1287_1290del rs1592107594
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser)
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln)
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del) rs121908977
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp)
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu)
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)
NM_001164279.2(SLC37A4):c.-172+167T>G
NM_001164279.2(SLC37A4):c.-172+50C>G
NM_001164279.2(SLC37A4):c.-172+83T>C
NM_001164279.2(SLC37A4):c.-71G>T
NM_001184721.1(GYG1):c.609-2498A>T rs1211466583
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)
NM_001243177.4(ALDOA):c.274+5G>A
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)
NM_001243177.4(ALDOA):c.702+3G>A
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe) rs1569216588
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg) rs119103227
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly) rs778061862
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val) rs772156741
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr) rs777373322
NM_001352514.2(HLCS):c.2121+8C>A
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln) rs769446135
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met) rs1555882115
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg) rs1601100788
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2450+1_2450+2del
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
NM_001363700.2(LIAS):c.299+1682_299+1690del rs776064587
NM_001365304.1(LOC112694756):c.*1245C>T rs144693278
NM_001365304.1(LOC112694756):c.*1269G>A rs142759891
NM_001370658.1(BTD):c.-38G>A
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala) rs886058115
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile) rs776369447
NM_001370658.1(BTD):c.132G>C (p.Glu44Asp) rs397514436
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro) rs181396238
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068
NM_001370658.1(BTD):c.1543C>T (p.Leu515Phe) rs771537277
NM_001370658.1(BTD):c.1553G>T (p.Arg518Leu) rs397514429
NM_001370658.1(BTD):c.1559A>G (p.Tyr520Cys) rs397514431
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
NM_001370658.1(BTD):c.249+5G>T
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala) rs1553653070
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser) rs397514366
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser) rs397514376
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala) rs144901367
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr) rs397507175
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly) rs397514387
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg) rs762757117
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001467.6(SLC37A4):c.1022C>T (p.Ser341Phe)
NM_001467.6(SLC37A4):c.1054A>G (p.Ile352Val)
NM_001467.6(SLC37A4):c.1130G>A (p.Gly377Asp)
NM_001467.6(SLC37A4):c.1159A>G (p.Ile387Val) rs782480303
NM_001467.6(SLC37A4):c.264C>T (p.Gly88=)
NM_001467.6(SLC37A4):c.355C>T (p.Pro119Ser)
NM_001467.6(SLC37A4):c.358C>T (p.Pro120Ser)
NM_001467.6(SLC37A4):c.399G>T (p.Gln133His)
NM_001467.6(SLC37A4):c.607C>A (p.Pro203Thr) rs534894133
NM_001467.6(SLC37A4):c.626+5G>A
NM_001467.6(SLC37A4):c.634_636del (p.Lys212del) rs782141145
NM_001467.6(SLC37A4):c.944T>C (p.Met315Thr)
NM_001467.6(SLC37A4):c.977C>A (p.Ser326Tyr)
NM_001739.2(CA5A):c.110G>A (p.Arg37His)
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro)
NM_001739.2(CA5A):c.427C>G (p.His143Asp)
NM_001739.2(CA5A):c.473A>C (p.His158Pro)
NM_001739.2(CA5A):c.512T>C (p.Val171Ala)
NM_001739.2(CA5A):c.575C>T (p.Thr192Met)
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)
NM_001739.2(CA5A):c.629C>T (p.Ala210Val)
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)
NM_001739.2(CA5A):c.767_774+13del
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)
NM_001931.5(DLAT):c.355A>G (p.Ile119Val) rs1555179245
NM_001931.5(DLAT):c.382G>A (p.Val128Ile) rs144677434
NM_001931.5(DLAT):c.510T>A (p.Pro170=)
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
NM_002076.4(GNS):c.117G>T (p.Gly39=)
NM_002076.4(GNS):c.1309-6C>G rs1592491918
NM_002076.4(GNS):c.1448C>A (p.Ala483Glu)
NM_002076.4(GNS):c.1581-1G>A
NM_002076.4(GNS):c.160A>G (p.Thr54Ala)
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
NM_002076.4(GNS):c.605A>T (p.Asp202Val)
NM_002076.4(GNS):c.676T>G (p.Phe226Val)
NM_002076.4(GNS):c.682A>G (p.Met228Val) rs1338194520
NM_002076.4(GNS):c.688G>A (p.Ala230Thr) rs140270805
NM_002076.4(GNS):c.698C>T (p.Ala233Val)
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
NM_002076.4(GNS):c.876-3C>T
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg)
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser)
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu)
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile) rs751121252
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser)
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys) rs769215150
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys)
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys)
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln)
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser) rs200672892
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser)
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser)
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys)
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg) rs1600138867
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg) rs753922665
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn) rs573897595
NM_002103.5(GYS1):c.1279A>G (p.Met427Val)
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn) rs1600135048
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr)
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala) rs142951866
NM_002103.5(GYS1):c.134C>T (p.Thr45Met)
NM_002103.5(GYS1):c.135G>A (p.Thr45=)
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser)
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly)
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr)
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu) rs144681053
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del)
NM_002103.5(GYS1):c.1473G>A (p.Val491=)
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val)
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys)
NM_002103.5(GYS1):c.1548G>A (p.Pro516=)
NM_002103.5(GYS1):c.1559C>T (p.Thr520Met)
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg)
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn)
NM_002103.5(GYS1):c.1810-7C>A
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr)
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly)
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro)
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val)
NM_002103.5(GYS1):c.1859A>G (p.His620Arg)
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys) rs962330001
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala) rs1600128045
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly)
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp) rs886054568
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) rs748334413
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys)
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly)
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys)
NM_002103.5(GYS1):c.2021G>A (p.Arg674His)
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn)
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr)
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe)
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser)
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe)
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly)
NM_002103.5(GYS1):c.213G>C (p.Gln71His) rs200998100
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys)
NM_002103.5(GYS1):c.217G>A (p.Val73Met)
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986
NM_002103.5(GYS1):c.2207del (p.Arg736fs)
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr)
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr) rs1600154718
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu)
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe)
NM_002103.5(GYS1):c.300+3G>A
NM_002103.5(GYS1):c.314G>A (p.Arg105His) rs775388088
NM_002103.5(GYS1):c.324C>G (p.Ile108Met)
NM_002103.5(GYS1):c.362C>T (p.Ala121Val)
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly) rs183816843
NM_002103.5(GYS1):c.3G>T (p.Met1Ile)
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg)
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg)
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu)
NM_002103.5(GYS1):c.438C>T (p.Arg146=)
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn)
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu) rs1199465827
NM_002103.5(GYS1):c.524T>C (p.Val175Ala)
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser)
NM_002103.5(GYS1):c.56A>T (p.Glu19Val)
NM_002103.5(GYS1):c.578C>T (p.Ala193Val)
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln)
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys)
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser)
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys)
NM_002103.5(GYS1):c.650C>T (p.Ala217Val)
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
NM_002103.5(GYS1):c.652G>C (p.Val218Leu)
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys)
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys)
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser)
NM_002103.5(GYS1):c.704A>T (p.Glu235Val)
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln)
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr) rs376523274
NM_002103.5(GYS1):c.760G>A (p.Val254Ile)
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys) rs138606563
NM_002103.5(GYS1):c.80C>T (p.Ala27Val)
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del)
NM_002103.5(GYS1):c.872A>G (p.His291Arg)
NM_002103.5(GYS1):c.944A>T (p.His315Leu)
NM_002294.3(LAMP2):c.1001A>G (p.Glu334Gly)
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)
NM_002294.3(LAMP2):c.1094-1G>C
NM_002294.3(LAMP2):c.10T>C (p.Phe4Leu)
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu)
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro)
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) rs727504625
NM_002294.3(LAMP2):c.1204C>A (p.His402Asn)
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys)
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu)
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu)
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr)
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515
NM_002294.3(LAMP2):c.373A>G (p.Thr125Ala)
NM_002294.3(LAMP2):c.376T>C (p.Phe126Leu)
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
NM_002294.3(LAMP2):c.398-3T>C
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro)
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser)
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu)
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly)
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu)
NM_002294.3(LAMP2):c.65-6A>G
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val)
NM_002294.3(LAMP2):c.709A>G (p.Met237Val)
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu)
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr)
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys)
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
NM_002294.3(LAMP2):c.823A>C (p.Asn275His)
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) rs397516748
NM_002294.3(LAMP2):c.928+6C>T
NM_002294.3(LAMP2):c.928G>T (p.Val310Phe)
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala)
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn)
NM_002637.4(PHKA1):c.1459+6_1459+8del rs782679415
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe)
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn)
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys) rs1474761630
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) rs151279562
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile) rs1603254167
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr)
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln) rs1603278200
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn) rs782344973
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr) rs375128462
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser) rs782365144
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) rs144813238
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val)
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met) rs1025423127
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly)
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys)
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) rs138752449
NM_002863.5(PYGL):c.1159C>T (p.Arg387Cys)
NM_002863.5(PYGL):c.1274G>A (p.Arg425His) rs2228499
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu) rs779051230
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) rs748519147
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn) rs138461745
NM_002863.5(PYGL):c.16A>C (p.Thr6Pro)
NM_002863.5(PYGL):c.1748A>G (p.His583Arg)
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met) rs144989341
NM_002863.5(PYGL):c.1828-9T>A rs372338710
NM_002863.5(PYGL):c.1831G>A (p.Ala611Thr)
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del)
NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile)
NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg) rs539898848
NM_002863.5(PYGL):c.208C>A (p.Arg70Ser)
NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr) rs555408487
NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser) rs759925909
NM_002863.5(PYGL):c.2426C>T (p.Ser809Leu) rs760187622
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)
NM_002863.5(PYGL):c.275T>C (p.Met92Thr)
NM_002863.5(PYGL):c.283A>G (p.Thr95Ala)
NM_002863.5(PYGL):c.401A>G (p.Asn134Ser) rs780574052
NM_002863.5(PYGL):c.41T>A (p.Ile14Asn) rs1566518078
NM_002863.5(PYGL):c.449C>T (p.Thr150Ile) rs1596047964
NM_002863.5(PYGL):c.559G>A (p.Gly187Arg) rs770642815
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg)
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_002863.5(PYGL):c.698G>A (p.Gly233Asp) rs113993975
NM_002863.5(PYGL):c.728G>A (p.Arg243His)
NM_002863.5(PYGL):c.772+5G>T
NM_002863.5(PYGL):c.993G>A (p.Pro331=)
NM_004130.3(GYG1):c.439A>G (p.Asn147Asp) rs140175164
NM_004130.3(GYG1):c.662A>C (p.Asn221Thr) rs1412348949
NM_004130.3(GYG1):c.883G>A (p.Asp295Asn) rs202085215
NM_004130.3(GYG1):c.961C>T (p.Arg321Trp) rs138596591
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)
NM_004130.4(GYG1):c.66G>A (p.Leu22=)
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Gly360_Phe361insGluSerIleLeu)
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val) rs1589358775
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu) rs777564388
NM_005271.5(GLUD1):c.1198-11CT[2]
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu) rs1169592069
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
NM_005566.4(LDHA):c.126+3_126+6del rs776715682
NM_005566.4(LDHA):c.163G>A (p.Glu55Lys)
NM_005566.4(LDHA):c.592+7A>G
NM_005566.4(LDHA):c.764_765del (p.Ser255fs)
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile)
NM_005566.4(LDHA):c.944G>A (p.Arg315His)
NM_005566.4(LDHA):c.975G>T (p.Gly325=)
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr)
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile) rs151213354
NM_005609.4(PYGM):c.1433A>G (p.His478Arg) rs758131128
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg) rs750032282
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
NM_005609.4(PYGM):c.1520G>A (p.Arg507His)
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)
NM_005609.4(PYGM):c.178G>A (p.Val60Met) rs765962705
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr) rs1592409000
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr) rs200688234
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln)
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp) rs369382075
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys) rs757292296
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp) rs747567834
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg)
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp)
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg) rs141265458
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
NM_005609.4(PYGM):c.64G>A (p.Val22Met) rs140731551
NM_005609.4(PYGM):c.728G>A (p.Arg243His)
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys) rs779706675
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
NM_005908.4(MANBA):c.130G>A (p.Val44Ile) rs1432738569
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys) rs1578882546
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met)
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu) rs147023714
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly)
NM_005908.4(MANBA):c.178-3C>T
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn)
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys)
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys)
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp)
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys)
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser) rs538584064
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp) rs147428514
NM_005908.4(MANBA):c.2352_2356del (p.Thr785fs) rs1341763493
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val) rs367692761
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp)
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn) rs376012848
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr)
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu)
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys)
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala)
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala)
NM_006859.4(LIAS):c.101A>G (p.Lys34Arg)
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp)
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His)
NM_006859.4(LIAS):c.1065A>T (p.Ala355=)
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn) rs199942447
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_006859.4(LIAS):c.110A>T (p.Glu37Val) rs763606110
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
NM_006859.4(LIAS):c.120G>T (p.Gln40His) rs1041843537
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser) rs761295906
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly) rs1184621128
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
NM_006859.4(LIAS):c.15C>G (p.Cys5Trp)
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn)
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn)
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile) rs141723499
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
NM_006859.4(LIAS):c.218+4A>G
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr) rs1172950083
NM_006859.4(LIAS):c.23C>T (p.Ala8Val) rs1467308371
NM_006859.4(LIAS):c.242A>G (p.Lys81Arg)
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala) rs1560666276
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp) rs796052702
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)
NM_006859.4(LIAS):c.29G>A (p.Arg10His) rs1370681479
NM_006859.4(LIAS):c.312A>G (p.Thr104=) rs749254524
NM_006859.4(LIAS):c.313G>A (p.Val105Ile)
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser) rs747124026
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)
NM_006859.4(LIAS):c.354G>C (p.Trp118Cys)
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln) rs1436660040
NM_006859.4(LIAS):c.361G>A (p.Gly121Arg)
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr) rs74528014
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg) rs1320749254
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)
NM_006859.4(LIAS):c.391A>G (p.Met131Val)
NM_006859.4(LIAS):c.393+4G>A rs368453789
NM_006859.4(LIAS):c.393+7C>T rs372423537
NM_006859.4(LIAS):c.394-6T>C
NM_006859.4(LIAS):c.399G>A (p.Met133Ile)
NM_006859.4(LIAS):c.403G>C (p.Asp135His) rs772011702
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr) rs751421705
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)
NM_006859.4(LIAS):c.50T>C (p.Phe17Ser)
NM_006859.4(LIAS):c.542A>T (p.Asp181Val) rs796052704
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)
NM_006859.4(LIAS):c.550+4A>G rs1560668262
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala) rs1210720598
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr) rs1553934367
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser) rs1196873747
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala) rs374709255
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn) rs1560669433
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu) rs869312808
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln) rs570807277
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu) rs1021766315
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro) rs1553934545
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu) rs746107734
NM_006859.4(LIAS):c.746G>A (p.Arg249His) rs144133667
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser) rs146513468
NM_006859.4(LIAS):c.754C>T (p.Arg252Trp)
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu) rs1427248293
NM_006859.4(LIAS):c.779G>A (p.Arg260His)
NM_006859.4(LIAS):c.788A>G (p.Lys263Arg)
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg) rs1560671038
NM_006859.4(LIAS):c.807G>T (p.Gln269His)
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu) rs369125654
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu) rs528498907
NM_006859.4(LIAS):c.833T>C (p.Ile278Thr)
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr)
NM_006859.4(LIAS):c.890G>A (p.Arg297His) rs756021613
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)
NM_006859.4(LIAS):c.89C>T (p.Ser30Phe) rs796052701
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly) rs1206469888
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser)
NM_006859.4(LIAS):c.930G>A (p.Met310Ile) rs796052700
NM_006859.4(LIAS):c.941G>C (p.Arg314Thr)
NM_006859.4(LIAS):c.943C>T (p.Arg315Cys)
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775
NM_006859.4(LIAS):c.947A>G (p.His316Arg)
NM_006859.4(LIAS):c.988T>C (p.Tyr330His)
NM_006859.4(LIAS):c.999A>G (p.Lys333=)
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315
NM_013995.2(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_013995.2(LAMP2):c.1069G>A (p.Val357Met) rs886038907
NM_013995.2(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) rs730880488
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu) rs730880488
NM_013995.2(LAMP2):c.1201A>G (p.Arg401Gly) rs777128122
NM_013995.2(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771
NM_013995.2(LAMP2):c.204C>G (p.Asp68Glu) rs376215728
NM_013995.2(LAMP2):c.232A>G (p.Ile78Val) rs748676358
NM_013995.2(LAMP2):c.23C>T (p.Pro8Leu) rs878854484
NM_013995.2(LAMP2):c.260A>C (p.Lys87Thr) rs1556112678
NM_013995.2(LAMP2):c.263T>C (p.Ile88Thr) rs1569371283
NM_013995.2(LAMP2):c.29C>T (p.Pro10Leu) rs769378984
NM_013995.2(LAMP2):c.30G>A (p.Pro10=) rs11540224
NM_013995.2(LAMP2):c.320C>G (p.Ser107Cys) rs730880497
NM_013995.2(LAMP2):c.339C>G (p.Ser113Arg) rs147369153
NM_013995.2(LAMP2):c.364G>A (p.Asp122Asn) rs730880480
NM_013995.2(LAMP2):c.416A>T (p.Glu139Val) rs1602536486
NM_013995.2(LAMP2):c.443A>G (p.Asn148Ser) rs766491800
NM_013995.2(LAMP2):c.515T>C (p.Leu172Pro) rs371174243
NM_013995.2(LAMP2):c.566G>A (p.Cys189Tyr) rs750457485
NM_013995.2(LAMP2):c.581C>A (p.Thr194Asn) rs1033442580
NM_013995.2(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_013995.2(LAMP2):c.697C>G (p.Leu233Val) rs772577020
NM_013995.2(LAMP2):c.737A>G (p.Asp246Gly) rs730880482
NM_013995.2(LAMP2):c.73C>T (p.Arg25Trp) rs730880478
NM_013995.2(LAMP2):c.769A>G (p.Asn257Asp) rs369032377
NM_013995.2(LAMP2):c.773C>T (p.Thr258Ile) rs111703410
NM_013995.2(LAMP2):c.778C>T (p.His260Tyr) rs778577575
NM_013995.2(LAMP2):c.815T>G (p.Leu272Arg) rs1569369217
NM_013995.2(LAMP2):c.887T>G (p.Leu296Arg) rs730880486
NM_013995.2(LAMP2):c.907A>G (p.Met303Val) rs768369360
NM_013995.2(LAMP2):c.928+4A>G rs1602532732
NM_013995.2(LAMP2):c.980G>T (p.Ser327Ile) rs960241982
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1005+6T>C rs1554464077
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly) rs760258924
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys) rs1330644534
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470
NM_016203.4(PRKAG2):c.1053_1067del (p.Leu352_Glu356del) rs1584964948
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys) rs1554459431
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val) rs1554459423
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr) rs377603922
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly)
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
NM_016203.4(PRKAG2):c.1107-3C>T
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
NM_016203.4(PRKAG2):c.114+3G>A
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=) rs397517261
NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala) rs1554457901
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
NM_016203.4(PRKAG2):c.1201C>G (p.His401Asp) rs878855017
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145
NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys)
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val) rs370257703
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val) rs730880984
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)
NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser) rs1554455087
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val) rs878855018
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264
NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala)
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr)
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys)
NM_016203.4(PRKAG2):c.1466del (p.Asn489fs) rs1584934953
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)
NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr) rs1584934806
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His) rs144077131
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg) rs727504337
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg) rs370899599
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile) rs766113743
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala) rs1060503024
NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg) rs1563141020
NM_016203.4(PRKAG2):c.1591C>T (p.Arg531Trp)
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp) rs878855019
NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr)
NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) rs267606979
NM_016203.4(PRKAG2):c.1643C>T (p.Ser548Leu) rs1563131309
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg) rs1335765564
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe) rs1563131128
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg) rs397517266
NM_016203.4(PRKAG2):c.1679-1G>A
NM_016203.4(PRKAG2):c.1679-3C>T rs371543989
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro) rs61744760
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter) rs397517267
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met) rs540525001
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys) rs730880983
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn) rs369687307
NM_016203.4(PRKAG2):c.187-3C>T
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
NM_016203.4(PRKAG2):c.313G>A (p.Val105Met) rs397517269
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu) rs730880985
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile) rs1060503025
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly) rs1563659108
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys) rs730880989
NM_016203.4(PRKAG2):c.347G>A (p.Arg116His)
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu)
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser) rs1554596200
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln) rs142808871
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro)
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val) rs760511236
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys)
NM_016203.4(PRKAG2):c.389C>A (p.Ser130Tyr) rs748790230
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg) rs779753891
NM_016203.4(PRKAG2):c.406C>G (p.Pro136Ala)
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser)
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu) rs150188173
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile) rs397517270
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu) rs397517271
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu) rs150140412
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro) rs1563775284
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys) rs752783859
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys) rs1586486518
NM_016203.4(PRKAG2):c.466+1G>A rs1563658309
NM_016203.4(PRKAG2):c.466+6A>G
NM_016203.4(PRKAG2):c.467-2A>T rs1554531076
NM_016203.4(PRKAG2):c.471C>A (p.Ser157=)
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del) rs1002236859
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu) rs876657963
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln) rs765259437
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val) rs397517274
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp) rs200392688
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser) rs202200501
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu) rs145669999
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala)
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe) rs267601424
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg) rs368637364
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser) rs753859556
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg)
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.594G>A (p.Pro198=) rs397517276
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu) rs1554530705
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu) rs182084936
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys) rs397517277
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr) rs1554530665
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg) rs1585679990
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly) rs730880987
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu) rs200181419
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg) rs1289045435
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu) rs766460601
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln) rs780864954
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=) rs151108625
NM_016203.4(PRKAG2):c.685-5C>A rs779931367
NM_016203.4(PRKAG2):c.685-6C>A
NM_016203.4(PRKAG2):c.685-7C>A rs397517278
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup) rs878855020
NM_016203.4(PRKAG2):c.696G>A (p.Ala232=)
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys) rs1271179381
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)
NM_016203.4(PRKAG2):c.755-1G>A
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs) rs1585114507
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly)
NM_016203.4(PRKAG2):c.945A>G (p.Val315=) rs759393540
NM_016203.4(PRKAG2):c.947-22_947-6dup
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met) rs1060503023
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val) rs730880988
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala) rs775005432
NM_018297.4(NGLY1):c.1030C>T (p.Pro344Ser)
NM_018297.4(NGLY1):c.1033_1035del (p.Ser345del)
NM_018297.4(NGLY1):c.1042C>T (p.Arg348Trp)
NM_018297.4(NGLY1):c.1043G>A (p.Arg348Gln)
NM_018297.4(NGLY1):c.104T>A (p.Leu35Gln)
NM_018297.4(NGLY1):c.1068A>G (p.Glu356=)
NM_018297.4(NGLY1):c.1084C>G (p.Pro362Ala)
NM_018297.4(NGLY1):c.1120T>C (p.Ser374Pro)
NM_018297.4(NGLY1):c.1122C>G (p.Ser374=)
NM_018297.4(NGLY1):c.1171T>C (p.Tyr391His)
NM_018297.4(NGLY1):c.1174T>G (p.Ser392Ala) rs766571083
NM_018297.4(NGLY1):c.1175C>T (p.Ser392Phe)
NM_018297.4(NGLY1):c.120C>G (p.Asp40Glu)
NM_018297.4(NGLY1):c.1228C>T (p.Leu410Phe) rs1056459017
NM_018297.4(NGLY1):c.1232G>A (p.Arg411Gln)
NM_018297.4(NGLY1):c.1235A>T (p.Asp412Val) rs778513258
NM_018297.4(NGLY1):c.1238C>T (p.Thr413Ile)
NM_018297.4(NGLY1):c.1240A>G (p.Ile414Val) rs371004438
NM_018297.4(NGLY1):c.1249C>T (p.Leu417Phe) rs777927774
NM_018297.4(NGLY1):c.1250_1258dup (p.Leu417_Lys419dup)
NM_018297.4(NGLY1):c.1260+4T>C
NM_018297.4(NGLY1):c.1260+6_1260+7delinsCG
NM_018297.4(NGLY1):c.1261-3C>T
NM_018297.4(NGLY1):c.1268T>A (p.Leu423Gln) rs369598638
NM_018297.4(NGLY1):c.1289G>A (p.Arg430Lys)
NM_018297.4(NGLY1):c.1300C>G (p.Leu434Val) rs761035118
NM_018297.4(NGLY1):c.1304A>G (p.Gln435Arg)
NM_018297.4(NGLY1):c.1345_1346delinsTA (p.Thr449Tyr)
NM_018297.4(NGLY1):c.1354C>T (p.Pro452Ser) rs772810347
NM_018297.4(NGLY1):c.1355C>G (p.Pro452Arg) rs187892679
NM_018297.4(NGLY1):c.1363C>T (p.Leu455Phe)
NM_018297.4(NGLY1):c.1366G>C (p.Gly456Arg)
NM_018297.4(NGLY1):c.1370G>C (p.Gly457Ala)
NM_018297.4(NGLY1):c.1409G>A (p.Gly470Asp)
NM_018297.4(NGLY1):c.1415T>C (p.Met472Thr) rs1553652803
NM_018297.4(NGLY1):c.1447C>A (p.Pro483Thr) rs766828621
NM_018297.4(NGLY1):c.1448C>T (p.Pro483Leu)
NM_018297.4(NGLY1):c.1463A>G (p.Lys488Arg)
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe) rs144262689
NM_018297.4(NGLY1):c.14C>A (p.Ala5Glu)
NM_018297.4(NGLY1):c.1507C>G (p.Arg503Gly)
NM_018297.4(NGLY1):c.1517G>A (p.Arg506Gln) rs146208989
NM_018297.4(NGLY1):c.151T>C (p.Tyr51His)
NM_018297.4(NGLY1):c.1538C>G (p.Thr513Ser)
NM_018297.4(NGLY1):c.1622C>T (p.Ala541Val)
NM_018297.4(NGLY1):c.1637C>T (p.Ser546Leu) rs1040190748
NM_018297.4(NGLY1):c.1649A>G (p.Tyr550Cys) rs373792768
NM_018297.4(NGLY1):c.164G>A (p.Arg55Gln)
NM_018297.4(NGLY1):c.1676C>T (p.Ser559Leu)
NM_018297.4(NGLY1):c.1681G>A (p.Gly561Ser)
NM_018297.4(NGLY1):c.1687A>G (p.Lys563Glu)
NM_018297.4(NGLY1):c.1697G>A (p.Ser566Asn)
NM_018297.4(NGLY1):c.1709G>C (p.Arg570Thr)
NM_018297.4(NGLY1):c.1714A>G (p.Ser572Gly)
NM_018297.4(NGLY1):c.1732A>G (p.Thr578Ala) rs780662676
NM_018297.4(NGLY1):c.1757G>A (p.Arg586Gln)
NM_018297.4(NGLY1):c.1771C>G (p.Gln591Glu) rs765145201
NM_018297.4(NGLY1):c.1773A>G (p.Gln591=) rs1165637061
NM_018297.4(NGLY1):c.1781T>C (p.Leu594Pro)
NM_018297.4(NGLY1):c.1788C>T (p.Gly596=)
NM_018297.4(NGLY1):c.1790A>G (p.Asp597Gly)
NM_018297.4(NGLY1):c.1795A>G (p.Ser599Gly) rs200463539
NM_018297.4(NGLY1):c.1796G>A (p.Ser599Asn)
NM_018297.4(NGLY1):c.1805C>G (p.Ser602Cys) rs899798907
NM_018297.4(NGLY1):c.1808A>G (p.Tyr603Cys) rs777069327
NM_018297.4(NGLY1):c.1829C>T (p.Thr610Ile)
NM_018297.4(NGLY1):c.182T>G (p.Phe61Cys)
NM_018297.4(NGLY1):c.1833A>C (p.Glu611Asp)
NM_018297.4(NGLY1):c.1858A>G (p.Arg620Gly)
NM_018297.4(NGLY1):c.1868_1870del (p.Gly623del) rs771630737
NM_018297.4(NGLY1):c.1876G>A (p.Ala626Thr)
NM_018297.4(NGLY1):c.1889C>A (p.Thr630Asn) rs891240035
NM_018297.4(NGLY1):c.1901G>C (p.Arg634Thr)
NM_018297.4(NGLY1):c.1913A>G (p.Asn638Ser) rs1553649841
NM_018297.4(NGLY1):c.1918C>T (p.His640Tyr) rs529998714
NM_018297.4(NGLY1):c.1954A>G (p.Ser652Gly)
NM_018297.4(NGLY1):c.200C>T (p.Pro67Leu)
NM_018297.4(NGLY1):c.218A>G (p.Glu73Gly)
NM_018297.4(NGLY1):c.246+5G>A
NM_018297.4(NGLY1):c.247-3C>A
NM_018297.4(NGLY1):c.25T>A (p.Ser9Thr)
NM_018297.4(NGLY1):c.26C>G (p.Ser9Cys)
NM_018297.4(NGLY1):c.286G>A (p.Glu96Lys) rs777476251
NM_018297.4(NGLY1):c.291G>T (p.Gln97His)
NM_018297.4(NGLY1):c.2T>C (p.Met1Thr)
NM_018297.4(NGLY1):c.304C>T (p.Arg102Cys)
NM_018297.4(NGLY1):c.305G>T (p.Arg102Leu)
NM_018297.4(NGLY1):c.319A>C (p.Ile107Leu)
NM_018297.4(NGLY1):c.319A>G (p.Ile107Val) rs757774666
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)
NM_018297.4(NGLY1):c.362A>G (p.Lys121Arg)
NM_018297.4(NGLY1):c.364G>A (p.Val122Ile)
NM_018297.4(NGLY1):c.370T>G (p.Ser124Ala)
NM_018297.4(NGLY1):c.3GGC[5] (p.Ala5dup) rs753912717
NM_018297.4(NGLY1):c.403C>G (p.Pro135Ala)
NM_018297.4(NGLY1):c.406A>G (p.Thr136Ala) rs1559551887
NM_018297.4(NGLY1):c.409A>C (p.Thr137Pro)
NM_018297.4(NGLY1):c.419C>T (p.Ser140Leu)
NM_018297.4(NGLY1):c.41C>T (p.Ser14Phe)
NM_018297.4(NGLY1):c.431G>A (p.Gly144Glu) rs1553660431
NM_018297.4(NGLY1):c.448A>G (p.Arg150Gly) rs1559551749
NM_018297.4(NGLY1):c.44C>G (p.Pro15Arg) rs754904758
NM_018297.4(NGLY1):c.452A>G (p.Asn151Ser) rs969104465
NM_018297.4(NGLY1):c.455G>A (p.Arg152His) rs762498007
NM_018297.4(NGLY1):c.476C>T (p.Pro159Leu)
NM_018297.4(NGLY1):c.485C>T (p.Ala162Val)
NM_018297.4(NGLY1):c.491C>T (p.Thr164Met) rs749441809
NM_018297.4(NGLY1):c.492+6G>A rs200608265
NM_018297.4(NGLY1):c.493-4T>G
NM_018297.4(NGLY1):c.494T>G (p.Val165Gly)
NM_018297.4(NGLY1):c.508G>A (p.Ala170Thr)
NM_018297.4(NGLY1):c.521T>G (p.Val174Gly)
NM_018297.4(NGLY1):c.539A>G (p.Gln180Arg)
NM_018297.4(NGLY1):c.53C>T (p.Ala18Val) rs776883349
NM_018297.4(NGLY1):c.544G>A (p.Val182Met)
NM_018297.4(NGLY1):c.548T>C (p.Leu183Pro)
NM_018297.4(NGLY1):c.550G>A (p.Val184Ile)
NM_018297.4(NGLY1):c.554A>G (p.Tyr185Cys)
NM_018297.4(NGLY1):c.580G>A (p.Ala194Thr)
NM_018297.4(NGLY1):c.581C>T (p.Ala194Val)
NM_018297.4(NGLY1):c.586G>T (p.Ala196Ser)
NM_018297.4(NGLY1):c.597G>A (p.Pro199=)
NM_018297.4(NGLY1):c.603A>G (p.Gln201=)
NM_018297.4(NGLY1):c.626A>G (p.Glu209Gly)
NM_018297.4(NGLY1):c.629A>C (p.Lys210Thr) rs1553657104
NM_018297.4(NGLY1):c.633A>T (p.Leu211Phe)
NM_018297.4(NGLY1):c.646A>G (p.Lys216Glu) rs148972130
NM_018297.4(NGLY1):c.659G>A (p.Gly220Asp) rs748862974
NM_018297.4(NGLY1):c.690G>T (p.Leu230Phe)
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp) rs754083716
NM_018297.4(NGLY1):c.728A>C (p.His243Pro) rs1553654596
NM_018297.4(NGLY1):c.729C>G (p.His243Gln)
NM_018297.4(NGLY1):c.736A>T (p.Asn246Tyr)
NM_018297.4(NGLY1):c.761G>T (p.Gly254Val)
NM_018297.4(NGLY1):c.773G>A (p.Arg258Lys)
NM_018297.4(NGLY1):c.800G>T (p.Ser267Ile) rs147901411
NM_018297.4(NGLY1):c.815A>C (p.Lys272Thr) rs1553654532
NM_018297.4(NGLY1):c.818G>C (p.Trp273Ser) rs202027326
NM_018297.4(NGLY1):c.823G>A (p.Ala275Thr)
NM_018297.4(NGLY1):c.829G>C (p.Glu277Gln)
NM_018297.4(NGLY1):c.841C>T (p.His281Tyr) rs200446388
NM_018297.4(NGLY1):c.854C>G (p.Ala285Gly)
NM_018297.4(NGLY1):c.872G>A (p.Arg291Gln) rs769627493
NM_018297.4(NGLY1):c.880A>G (p.Arg294Gly)
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr)
NM_018297.4(NGLY1):c.88G>A (p.Glu30Lys)
NM_018297.4(NGLY1):c.897G>T (p.Glu299Asp) rs201068823
NM_018297.4(NGLY1):c.901C>G (p.Leu301Val)
NM_018297.4(NGLY1):c.91G>A (p.Ala31Thr)
NM_018297.4(NGLY1):c.923G>A (p.Arg308Gln)
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294
NM_018297.4(NGLY1):c.959G>C (p.Cys320Ser)
NM_018297.4(NGLY1):c.962G>A (p.Arg321Gln)
NM_018297.4(NGLY1):c.967G>A (p.Val323Ile) rs1279950302
NM_018297.4(NGLY1):c.978_980del (p.Glu326_Ala327delinsAsp) rs761634625
NM_018297.4(NGLY1):c.979G>A (p.Ala327Thr)
NM_021957.4(GYS2):c.1279A>C (p.Ile427Leu)
NM_021957.4(GYS2):c.1334C>T (p.Thr445Met)
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln) rs121918420
NM_021957.4(GYS2):c.1638T>A (p.Thr546=)
NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys) rs148617918
NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys) rs369069984
NM_021957.4(GYS2):c.1774C>G (p.Leu592Val) rs202136674
NM_021957.4(GYS2):c.1829A>G (p.His610Arg)
NM_021957.4(GYS2):c.1906T>C (p.Tyr636His) rs143798221
NM_021957.4(GYS2):c.215A>G (p.His72Arg)
NM_021957.4(GYS2):c.427C>T (p.Pro143Ser)
NM_021957.4(GYS2):c.470C>T (p.Ser157Phe)
NM_021957.4(GYS2):c.50A>G (p.Gln17Arg) rs376935348
NM_021957.4(GYS2):c.627T>A (p.Leu209=) rs767838400
NM_021957.4(GYS2):c.653T>C (p.Ile218Thr)
NM_021957.4(GYS2):c.753C>G (p.Cys251Trp)
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val) rs1232409954
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=) rs201470953
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg) rs370963132
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln)
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys) rs144018482
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His)
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser) rs531364402
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln) rs773934109
NM_031229.4(RBCK1):c.1160A>G (p.Asn387Ser) rs566912235
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile) rs538961301
NM_031229.4(RBCK1):c.1209+2_1209+3insA rs774461310
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr)
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp) rs764244683
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln) rs754890674
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile) rs1600315243
NM_031229.4(RBCK1):c.132A>T (p.Gln44His) rs145132343
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys) rs372540581
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His) rs150032325
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg) rs371077650
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn)
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys) rs145423115
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys) rs1342598444
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala)
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg)
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys)
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile)
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg)
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala)
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser) rs143804674
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu) rs751582683
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val) rs1568554230
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala) rs779621384
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile) rs753472058
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys)
NM_031229.4(RBCK1):c.256G>C (p.Asp86His)
NM_031229.4(RBCK1):c.261+6_261+9del rs754865819
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln)
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu)
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp) rs774464341
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys) rs146325218
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys) rs1555785275
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp)
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln)
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met)