ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Invitae

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 494
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HGVS dbSNP
NC_000001.10:g.(?_20978852)_(20987914_?)del
NC_000001.10:g.(?_63862174)_(63862278_?)del
NC_000009.11:g.(?_130216797)_(130953151_?)dup
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000013.10:g.(?_52538988)_(52602746_?)dup
NC_000016.9:g.(?_5130947)_(5147740_?)del
NC_000016.9:g.(?_8873316)_(8941702_?)del
NC_000016.9:g.(?_8891730)_(8906973_?)del
NC_000016.9:g.(?_8898599)_(8906983_?)del
NC_000016.9:g.(?_8904926)_(8926102_?)del
NC_000016.9:g.(?_8941558)_(8941692_?)del
NC_000020.10:g.(?_49551401)_(49575111_?)del
NC_000020.10:g.(?_49557382)_(49558683_?)del
NC_000022.10:g.(?_50297466)_(50301612_?)del
NM_000303.3(PMM2):c.-167G>T
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.463C>T (p.Gln155Ter)
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.511dup (p.Thr171fs) rs1057516323
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro)
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)
NM_000303.3(PMM2):c.548T>C (p.Phe183Ser)
NM_000303.3(PMM2):c.55del (p.Ala19fs)
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.647A>T (p.Asn216Ile) rs78290141
NM_000303.3(PMM2):c.66+5G>A
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter)
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg) rs398123312
NM_001004127.2(ALG11):c.-674A>G rs28362532
NM_001004127.3(ALG11):c.1032T>G (p.Gly344=) rs143967675
NM_001004127.3(ALG11):c.1107T>C (p.Tyr369=) rs146432805
NM_001004127.3(ALG11):c.173A>T (p.Asn58Ile) rs150818619
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911
NM_001004127.3(ALG11):c.323A>G (p.Asn108Ser) rs17480245
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415
NM_001004127.3(ALG11):c.44+324T>C rs77505745
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)
NM_001004127.3(ALG11):c.933G>A (p.Pro311=) rs61958802
NM_001077691.2(ALG9):c.1025C>T (p.Pro342Leu) rs185149177
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360
NM_001099922.3(ALG13):c.1064A>G (p.Gln355Arg) rs372521943
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541
NM_001099922.3(ALG13):c.1266T>C (p.Gly422=) rs5985637
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val)
NM_001099922.3(ALG13):c.1641A>G (p.Gln547=) rs768589790
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser)
NM_001099922.3(ALG13):c.183C>T (p.Tyr61=) rs146925326
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg)
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp)
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe)
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys)
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=) rs1060503802
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400
NM_001099922.3(ALG13):c.2248-4A>G rs370438099
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg) rs1556509706
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658
NM_001099922.3(ALG13):c.2380_2382GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His) rs1441099792
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys)
NM_001099922.3(ALG13):c.2529+5T>C rs749420976
NM_001099922.3(ALG13):c.2573A>G (p.Asn858Ser) rs756238772
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe) rs1556516959
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe)
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup)
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val) rs1556517111
NM_001099922.3(ALG13):c.2672C>T (p.Ser891Phe) rs200066623
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187
NM_001099922.3(ALG13):c.2754_2756ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754_2756ACC[17] (p.Pro944_Pro945dup)
NM_001099922.3(ALG13):c.2754_2756ACC[18] (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del)
NM_001099922.3(ALG13):c.2797_2799CCT[10] (p.Pro943_Pro945del)
NM_001099922.3(ALG13):c.2797_2799CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797_2799CCT[12] (p.Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup)
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872
NM_001099922.3(ALG13):c.3008A>G (p.Tyr1003Cys) rs201055779
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg) rs753692221
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531
NM_001099922.3(ALG13):c.3058A>G (p.Thr1020Ala) rs3027818
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp)
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser)
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) rs761412613
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala)
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg)
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.384-5C>T rs763318921
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu)
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) rs1060500008
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser)
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu)
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu)
NM_001099922.3(ALG13):c.886-7T>C rs1556488604
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys)
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)
NM_001382.4(DPAGT1):c.1005+6A>T
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649
NM_001382.4(DPAGT1):c.161+6C>T rs762402071
NM_001382.4(DPAGT1):c.1A>C (p.Met1Leu) rs1057521151
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099
NM_001382.4(DPAGT1):c.26dup (p.Met9fs) rs768656482
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)
NM_001382.4(DPAGT1):c.360G>C (p.Leu120=) rs1555207826
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs) rs1185483085
NM_001382.4(DPAGT1):c.398C>G (p.Ser133Ter)
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)
NM_001382.4(DPAGT1):c.729-4A>C rs199873583
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)
NM_001382.4(DPAGT1):c.918-10C>A
NM_001382.4(DPAGT1):c.918-4G>A rs201656540
NM_001382.4(DPAGT1):c.918-8C>T rs531346717
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro) rs1555479551
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys)
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.45G>C (p.Gln15His)
NM_002435.3(MPI):c.61A>G (p.Met21Val)
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1086dup (p.Gly363fs)
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988
NM_002633.3(PGM1):c.1145-7C>G rs72922609
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327
NM_002633.3(PGM1):c.1280+7C>T rs72922610
NM_002633.3(PGM1):c.1376_1377TC[1] (p.Ala461fs)
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290
NM_002633.3(PGM1):c.1599+9C>T rs115864084
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727
NM_002633.3(PGM1):c.573G>A (p.Ser191=) rs112502842
NM_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808
NM_003859.2(DPM1):c.109C>A (p.Arg37Ser) rs369939483
NM_003859.2(DPM1):c.112G>A (p.Glu38Lys)
NM_003859.2(DPM1):c.168C>G (p.Ile56Met)
NM_003859.2(DPM1):c.173A>G (p.Tyr58Cys)
NM_003859.2(DPM1):c.173A>T (p.Tyr58Phe)
NM_003859.2(DPM1):c.19A>G (p.Ser7Gly)
NM_003859.2(DPM1):c.1A>C (p.Met1Leu)
NM_003859.2(DPM1):c.20G>A (p.Ser7Asn) rs776145598
NM_003859.2(DPM1):c.235G>C (p.Glu79Gln) rs760351795
NM_003859.2(DPM1):c.254A>G (p.Asp85Gly) rs1364834319
NM_003859.2(DPM1):c.25A>G (p.Ser9Gly)
NM_003859.2(DPM1):c.261T>A (p.Ile87=) rs774440510
NM_003859.2(DPM1):c.273A>G (p.Pro91=) rs766462970
NM_003859.2(DPM1):c.275G>A (p.Arg92Gln) rs1324570980
NM_003859.2(DPM1):c.331_343del (p.Gly111fs) rs1272097668
NM_003859.2(DPM1):c.339C>T (p.Tyr113=) rs749555898
NM_003859.2(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.2(DPM1):c.385C>A (p.Pro129Thr)
NM_003859.2(DPM1):c.385C>T (p.Pro129Ser)
NM_003859.2(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.2(DPM1):c.40C>T (p.Arg14Trp) rs117175017
NM_003859.2(DPM1):c.413G>A (p.Gly138Asp)
NM_003859.2(DPM1):c.455G>T (p.Gly152Val) rs587777116
NM_003859.2(DPM1):c.52G>C (p.Glu18Gln)
NM_003859.2(DPM1):c.579A>C (p.Glu193Asp)
NM_003859.2(DPM1):c.59G>T (p.Arg20Leu) rs376257244
NM_003859.2(DPM1):c.61A>G (p.Ser21Gly)
NM_003859.2(DPM1):c.679-7A>T rs60224379
NM_003859.2(DPM1):c.679-7_679-6insT rs11480415
NM_003859.2(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.2(DPM1):c.679-7_679-6insTTT rs11480415
NM_003859.2(DPM1):c.684A>G (p.Pro228=) rs369538517
NM_003859.2(DPM1):c.685A>G (p.Ile229Val)
NM_003859.2(DPM1):c.757T>G (p.Leu253Val) rs773403940
NM_003859.2(DPM1):c.763A>G (p.Thr255Ala)
NM_003859.2(DPM1):c.779C>T (p.Thr260Ile) rs146262101
NM_003859.2(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003859.2(DPM1):c.84G>C (p.Ser28=) rs16995639
NM_003859.2(DPM1):c.9C>G (p.Ser3=) rs150509150
NM_003863.3(DPM2):c.107G>A (p.Ser36Asn)
NM_003863.3(DPM2):c.145T>A (p.Tyr49Asn) rs755055369
NM_003863.3(DPM2):c.146A>G (p.Tyr49Cys)
NM_003863.3(DPM2):c.154G>A (p.Ala52Thr) rs147263320
NM_003863.3(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.3(DPM2):c.177C>T (p.Leu59=) rs35334863
NM_003863.3(DPM2):c.183G>A (p.Leu61=) rs11552794
NM_003863.3(DPM2):c.208T>G (p.Ser70Ala) rs759597928
NM_003863.3(DPM2):c.212_213delinsGC (p.Tyr71Cys)
NM_003863.3(DPM2):c.64A>G (p.Thr22Ala) rs7042788
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys)
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720
NM_004870.4(MPDU1):c.477del (p.Ser160fs) rs765585873
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808
NM_005216.4(DDOST):c.219G>A (p.Glu73=) rs747449468
NM_005216.4(DDOST):c.22G>C (p.Gly8Arg) rs537816
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys)
NM_005216.4(DDOST):c.647C>T (p.Thr216Met)
NM_005216.4(DDOST):c.827C>T (p.Ala276Val) rs138061134
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888
NM_005787.6(ALG3):c.240C>T (p.Gly80=)
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys) rs528154210
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
NM_013339.4(ALG6):c.1092T>C (p.Phe364=) rs751867296
NM_013339.4(ALG6):c.1127+1G>A rs1557597486
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372
NM_013339.4(ALG6):c.146_147del (p.Thr48_Phe49insTer)
NM_013339.4(ALG6):c.171T>A (p.Tyr57Ter) rs780528545
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863
NM_013339.4(ALG6):c.902+1G>A
NM_013339.4(ALG6):c.999dup (p.Leu334fs)
NM_014908.3(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.3(DOLK):c.1067G>A (p.Arg356Gln) rs199535796
NM_014908.3(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255
NM_014908.3(DOLK):c.1087G>A (p.Ala363Thr)
NM_014908.3(DOLK):c.1114T>A (p.Phe372Ile) rs146395561
NM_014908.3(DOLK):c.1129C>T (p.Arg377Cys)
NM_014908.3(DOLK):c.1139G>A (p.Arg380His) rs553112177
NM_014908.3(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.3(DOLK):c.114A>G (p.Val38=) rs142000757
NM_014908.3(DOLK):c.1165C>T (p.Arg389Trp)
NM_014908.3(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.3(DOLK):c.1257C>G (p.Ile419Met)
NM_014908.3(DOLK):c.1262T>C (p.Leu421Pro)
NM_014908.3(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.3(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829
NM_014908.3(DOLK):c.1314C>T (p.Leu438=) rs148118523
NM_014908.3(DOLK):c.1324G>A (p.Ala442Thr) rs143641133
NM_014908.3(DOLK):c.1333C>A (p.Leu445Met) rs866088033
NM_014908.3(DOLK):c.1357G>C (p.Val453Leu)
NM_014908.3(DOLK):c.1373G>T (p.Gly458Val)
NM_014908.3(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.3(DOLK):c.1394G>A (p.Arg465His) rs148930043
NM_014908.3(DOLK):c.1438A>G (p.Ile480Val) rs144209926
NM_014908.3(DOLK):c.1446G>A (p.Ala482=) rs201027607
NM_014908.3(DOLK):c.1450A>G (p.Ile484Val) rs147630977
NM_014908.3(DOLK):c.1462G>T (p.Ala488Ser)
NM_014908.3(DOLK):c.1481A>G (p.Asp494Gly) rs145292760
NM_014908.3(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.3(DOLK):c.1558A>G (p.Thr520Ala)
NM_014908.3(DOLK):c.159C>G (p.Ala53=) rs199857223
NM_014908.3(DOLK):c.164A>G (p.Tyr55Cys)
NM_014908.3(DOLK):c.186G>A (p.Arg62=) rs148171062
NM_014908.3(DOLK):c.192A>G (p.Leu64=) rs563156233
NM_014908.3(DOLK):c.194A>G (p.Gln65Arg) rs754744977
NM_014908.3(DOLK):c.1dup (p.Met1fs) rs531969689
NM_014908.3(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.3(DOLK):c.288G>C (p.Lys96Asn)
NM_014908.3(DOLK):c.292C>T (p.Arg98Trp)
NM_014908.3(DOLK):c.313C>A (p.Pro105Thr)
NM_014908.3(DOLK):c.344C>T (p.Ala115Val) rs146804211
NM_014908.3(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.3(DOLK):c.379G>A (p.Val127Met)
NM_014908.3(DOLK):c.401G>A (p.Arg134His)
NM_014908.3(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.3(DOLK):c.412A>G (p.Thr138Ala)
NM_014908.3(DOLK):c.429C>G (p.Ile143Met) rs1261719011
NM_014908.3(DOLK):c.525T>G (p.Val175=) rs200278288
NM_014908.3(DOLK):c.52G>A (p.Gly18Arg) rs777998210
NM_014908.3(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.3(DOLK):c.560G>T (p.Arg187Leu) rs377658203
NM_014908.3(DOLK):c.572C>A (p.Pro191His) rs767965852
NM_014908.3(DOLK):c.579G>A (p.Glu193=) rs28365522
NM_014908.3(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.3(DOLK):c.631C>T (p.Arg211Cys) rs145310298
NM_014908.3(DOLK):c.633C>T (p.Arg211=) rs147647278
NM_014908.3(DOLK):c.671A>T (p.Asp224Val) rs17485436
NM_014908.3(DOLK):c.700A>G (p.Met234Val) rs139787271
NM_014908.3(DOLK):c.703G>A (p.Val235Ile) rs759019995
NM_014908.3(DOLK):c.725G>A (p.Ser242Asn) rs876657786
NM_014908.3(DOLK):c.731dup (p.Phe245fs)
NM_014908.3(DOLK):c.767C>T (p.Ser256Phe) rs1186154711
NM_014908.3(DOLK):c.771C>T (p.Ile257=) rs147416890
NM_014908.3(DOLK):c.807T>C (p.Gly269=) rs769294980
NM_014908.3(DOLK):c.860_862TTC[1] (p.Leu288del) rs773789842
NM_014908.3(DOLK):c.873C>T (p.Leu291=) rs148646968
NM_014908.3(DOLK):c.898C>T (p.Leu300Phe) rs371529625
NM_014908.3(DOLK):c.914C>G (p.Ser305Cys)
NM_014908.3(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_014908.3(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_019109.4(ALG1):c.1063del (p.Leu355fs)
NM_019109.4(ALG1):c.1136T>G (p.Val379Gly) rs1555452573
NM_019109.4(ALG1):c.1187+3A>G rs369160589
NM_019109.4(ALG1):c.1250_1251insTG (p.Ala418fs) rs746019074
NM_019109.4(ALG1):c.142C>T (p.Arg48Cys) rs1051082443
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) rs145474820
NM_019109.4(ALG1):c.304C>T (p.Gln102Ter) rs780107088
NM_019109.4(ALG1):c.334A>C (p.Met112Leu) rs113219939
NM_019109.4(ALG1):c.554T>G (p.Phe185Cys) rs112668461
NM_019109.4(ALG1):c.604G>T (p.Asp202Tyr)
NM_019109.4(ALG1):c.766G>A (p.Glu256Lys)
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_019109.4(ALG1):c.826C>T (p.Arg276Trp) rs151173406
NM_019109.4(ALG1):c.827G>A (p.Arg276Gln) rs201975029
NM_019109.4(ALG1):c.840G>C (p.Leu280=) rs12921879
NM_019109.4(ALG1):c.863-2A>G
NM_019109.4(ALG1):c.880A>C (p.Ile294Leu)
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922
NM_024079.5(ALG8):c.96-6G>C rs199911532
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met)
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992
NM_024105.4(ALG12):c.434C>T (p.Thr145Met)
NM_024105.4(ALG12):c.469+4C>T
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682
NM_024105.4(ALG12):c.652A>G (p.Ile218Val)
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540
NM_024105.4(ALG12):c.809G>A (p.Arg270His)
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser)
NM_024105.4(ALG12):c.863C>T (p.Thr288Met)
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760
NM_024740.2(ALG9):c.406-7C>T rs45574638
NM_024740.2(ALG9):c.896-3C>T rs782063335
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys) rs1329170357
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr) rs138258236
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897
NM_033087.4(ALG2):c.129C>G (p.Arg43=) rs35055733
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)
NM_033087.4(ALG2):c.1A>G (p.Met1Val) rs750172644
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)
NM_033087.4(ALG2):c.216G>T (p.Gly72=) rs531748488
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu) rs755705607
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro) rs1564222174
NM_033087.4(ALG2):c.251_253GCG[3] (p.Gly85dup)
NM_033087.4(ALG2):c.257_259CCG[3] (p.Ala87dup)
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)
NM_033087.4(ALG2):c.288C>T (p.Phe96=) rs542863968
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)
NM_033087.4(ALG2):c.348+6G>A rs368075764
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)
NM_033087.4(ALG2):c.399C>G (p.Ile133Met) rs371772900
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly) rs369670496
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln) rs757920586
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr) rs140382423
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)
NM_033087.4(ALG2):c.84C>G (p.Gly28=) rs61744789
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro) rs1279623882
NM_033087.4(ALG2):c.97G>A (p.Val33Met)
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr)
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg)
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) rs1562183021
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) rs1554202852
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.99dup (p.Asn34fs)
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) rs773427971
NM_153741.2(DPM3):c.185C>T (p.Ala62Val) rs1553190791
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)
NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070
NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)
NM_153741.2(DPM3):c.48C>T (p.Ser16=) rs753265590
NM_153741.2(DPM3):c.55G>T (p.Val19Leu) rs141877691
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)
NM_178862.3(STT3B):c.777+7T>G rs76400963
NM_201400.4(EEF2KMT):c.*804G>A rs1047747

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