List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Invitae

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2631

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HGVS	dbSNP	gnomAD frequency
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys)	rs147412842	0.00081
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu)	rs147971989	0.00072
NM_024105.4(ALG12):c.319G>A (p.Val107Met)	rs147784926	0.00066
NM_005216.5(DDOST):c.508G>A (p.Val170Ile)	rs111334879	0.00063
NM_024105.4(ALG12):c.652A>G (p.Ile218Val)	rs146322225	0.00061
NM_024105.4(ALG12):c.469+5G>A	rs375025860	0.00058
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys)	rs56393253	0.00054
NM_005216.5(DDOST):c.596C>T (p.Thr199Met)	rs142593688	0.00051
NM_005216.5(DDOST):c.142C>T (p.Arg48Trp)	rs140409217	0.00050
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys)	rs2233469	0.00049
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val)	rs147641581	0.00047
NM_005216.5(DDOST):c.712G>A (p.Val238Ile)	rs150551993	0.00046
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys)	rs143232904	0.00046
NM_002633.3(PGM1):c.1143C>T (p.Thr381=)	rs140035988	0.00045
NM_001004127.3(ALG11):c.1160A>C (p.Glu387Ala)	rs115524395	0.00044
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val)	rs139686892	0.00044
NM_005216.5(DDOST):c.917A>G (p.Asn306Ser)	rs764755742	0.00042
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val)	rs17856033	0.00041
NM_024105.4(ALG12):c.242C>T (p.Ala81Val)	rs142586266	0.00041
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp)	rs144040842	0.00039
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met)	rs147740901	0.00039
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu)	rs146171115	0.00039
NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp)	rs141814567	0.00038
NM_024105.4(ALG12):c.1425G>C (p.Gln475His)	rs147000290	0.00036
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly)	rs147804856	0.00034
NM_004870.4(MPDU1):c.338C>T (p.Thr113Met)	rs141320993	0.00034
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu)	rs149700024	0.00033
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro)	rs36111204	0.00032
NM_153741.2(DPM3):c.55G>T (p.Val19Leu)	rs141877691	0.00032
NM_014908.4(DOLK):c.1394G>A (p.Arg465His)	rs148930043	0.00031
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp)	rs759843220	0.00031
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln)	rs141310219	0.00030
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr)	rs375679649	0.00029
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn)	rs761121795	0.00029
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val)	rs182350911	0.00026
NM_005216.5(DDOST):c.509T>C (p.Val170Ala)	rs146767054	0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn)	rs144499089	0.00026
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser)	rs200946042	0.00026
NM_002633.3(PGM1):c.734C>T (p.Ala245Val)	rs929270819	0.00025
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val)	rs138584071	0.00025
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser)	rs139208333	0.00024
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys)	rs144949442	0.00023
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val)	rs200068321	0.00023
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr)	rs752831768	0.00022
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr)	rs140382423	0.00022
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr)	rs202195109	0.00021
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu)	rs557867164	0.00020
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys)	rs150101415	0.00019
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe)	rs150532554	0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala)	rs201815588	0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile)	rs532258057	0.00019
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg)	rs141068538	0.00019
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser)	rs142027212	0.00019
NM_033087.4(ALG2):c.399C>G (p.Ile133Met)	rs371772900	0.00019
NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn)	rs201230044	0.00019
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser)	rs367689770	0.00018
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu)	rs142016662	0.00018
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met)	rs748537273	0.00017
NM_002633.3(PGM1):c.1600-3C>T	rs375450688	0.00016
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile)	rs146262101	0.00016
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met)	rs138962748	0.00016
NM_024105.4(ALG12):c.1057G>A (p.Val353Met)	rs374327138	0.00016
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr)	rs147263320	0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr)	rs143641133	0.00015
NM_052859.4(RFT1):c.1101C>T (p.Ser367=)	rs139445704	0.00015
NM_002633.3(PGM1):c.529T>G (p.Leu177Val)	rs112293909	0.00014
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser)	rs199782279	0.00014
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val)	rs763991801	0.00014
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val)	rs144209926	0.00014
NM_033087.4(ALG2):c.217G>C (p.Asp73His)	rs375634924	0.00014
NM_052859.4(RFT1):c.1049A>G (p.Tyr350Cys)	rs148627975	0.00014
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys)	rs367783946	0.00013
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln)	rs370265239	0.00013
NM_012463.4(ATP6V0A2):c.118-7_118-3del	rs777322469	0.00013
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr)	rs146354877	0.00013
NM_138459.5(NUS1):c.805C>T (p.His269Tyr)	rs1038995750	0.00013
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser)	rs1008042824	0.00013
NM_000303.3(PMM2):c.149A>T (p.Glu50Val)	rs182336960	0.00012
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser)	rs201560109	0.00012
NM_001382.4(DPAGT1):c.496+3A>G	rs565154071	0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr)	rs754727464	0.00012
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met)	rs138890428	0.00012
NM_019109.5(ALG1):c.812C>T (p.Thr271Met)	rs368722637	0.00012
NM_005216.5(DDOST):c.733G>A (p.Asp245Asn)	rs780103981	0.00011
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys)	rs200463200	0.00011
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp)	rs562509297	0.00011
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val)	rs569498428	0.00011
NM_019109.5(ALG1):c.284C>T (p.Ala95Val)	rs368284764	0.00011
NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met)	rs142711275	0.00011
NM_000303.3(PMM2):c.66+5G>A	rs375808631	0.00010
NM_002435.3(MPI):c.662C>G (p.Ser221Cys)	rs760911969	0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly)	rs752306671	0.00010
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser)	rs139521934	0.00010
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys)	rs201354339	0.00010
NM_014908.4(DOLK):c.379G>A (p.Val127Met)	rs752310792	0.00010
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe)	rs371529625	0.00010
NM_024105.4(ALG12):c.1158G>C (p.Gln386His)	rs372390738	0.00010
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg)	rs1054683823	0.00010
NM_052859.4(RFT1):c.110G>A (p.Arg37His)	rs139153173	0.00010
NM_052859.4(RFT1):c.884C>T (p.Pro295Leu)	rs770676975	0.00010
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser)	rs1208820400	0.00009
NM_001099922.3(ALG13):c.1741A>G (p.Met581Val)	rs373053138	0.00009
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala)	rs746099604	0.00009
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg)	rs1016844949	0.00009
NM_002435.3(MPI):c.167G>A (p.Arg56Gln)	rs200452019	0.00009
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys)	rs150286818	0.00009
NM_005216.5(DDOST):c.265+6G>C	rs372328091	0.00009
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu)	rs201271558	0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val)	rs758214692	0.00009
NM_019109.5(ALG1):c.815G>A (p.Arg272His)	rs560302928	0.00009
NM_024105.4(ALG12):c.1216C>G (p.Leu406Val)	rs772459313	0.00009
NM_024105.4(ALG12):c.1360G>A (p.Val454Ile)	rs777096831	0.00009
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln)	rs369231996	0.00009
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile)	rs373454393	0.00009
NM_052859.4(RFT1):c.267-3T>C	rs778876601	0.00009
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser)	rs1052237	0.00009
NM_001099922.3(ALG13):c.1841G>C (p.Arg614Thr)	rs752779777	0.00008
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala)	rs750856311	0.00008
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn)	rs776145598	0.00008
NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile)	rs200661626	0.00008
NM_019109.5(ALG1):c.457G>A (p.Val153Ile)	rs750216032	0.00008
NM_024740.2(ALG9):c.129C>T (p.Thr43=)	rs1311317470	0.00008
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln)	rs143625172	0.00008
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val)	rs763302334	0.00008
NM_052859.4(RFT1):c.533G>A (p.Gly178Glu)	rs373067263	0.00008
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser)	rs773666398	0.00007
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu)	rs915629293	0.00007
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn)	rs542516384	0.00007
NM_003859.3(DPM1):c.261T>A (p.Ile87=)	rs774440510	0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val)	rs559946698	0.00007
NM_005787.6(ALG3):c.1243G>A (p.Val415Ile)	rs375976807	0.00007
NM_005787.6(ALG3):c.248A>G (p.Asn83Ser)	rs199565095	0.00007
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys)	rs778381327	0.00007
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val)	rs145152115	0.00007
NM_014908.4(DOLK):c.509T>G (p.Val170Gly)	rs745609223	0.00007
NM_019109.5(ALG1):c.37C>G (p.Leu13Val)	rs758104063	0.00007
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg)	rs145851409	0.00007
NM_024079.5(ALG8):c.1349+5T>C	rs886048685	0.00007
NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr)	rs773892105	0.00007
NM_024105.4(ALG12):c.385A>G (p.Met129Val)	rs200068410	0.00007
NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile)	rs151267741	0.00007
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr)	rs763662395	0.00007
NM_052859.4(RFT1):c.964G>A (p.Val322Ile)	rs143888206	0.00007
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser)	rs779673665	0.00007
NM_000303.3(PMM2):c.256-13T>G	rs62031145	0.00006
NM_000303.3(PMM2):c.426T>G (p.Ile142Met)	rs781610241	0.00006
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys)	rs142420230	0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln)	rs138383066	0.00006
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His)	rs144883776	0.00006
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp)	rs778396216	0.00006
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe)	rs751590922	0.00006
NM_002435.3(MPI):c.61A>G (p.Met21Val)	rs376746368	0.00006
NM_002633.3(PGM1):c.975G>T (p.Gln325His)	rs574355735	0.00006
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly)	rs148674319	0.00006
NM_005216.5(DDOST):c.236A>G (p.Asn79Ser)	rs773982629	0.00006
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys)	rs1038330038	0.00006
NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys)	rs369105590	0.00006
NM_005787.6(ALG3):c.13C>G (p.Leu5Val)	rs369888932	0.00006
NM_005787.6(ALG3):c.578G>A (p.Arg193His)	rs550144109	0.00006
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser)	rs768141782	0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His)	rs199698721	0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His)	rs758922111	0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val)	rs762614200	0.00006
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe)	rs151277583	0.00006
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr)	rs376087919	0.00006
NM_014908.4(DOLK):c.1139G>A (p.Arg380His)	rs553112177	0.00006
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter)	rs1366267146	0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly)	rs779008975	0.00006
NM_014908.4(DOLK):c.344C>T (p.Ala115Val)	rs146804211	0.00006
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys)	rs766759178	0.00006
NM_019109.5(ALG1):c.20T>G (p.Val7Gly)	rs780711908	0.00006
NM_019109.5(ALG1):c.335T>C (p.Met112Thr)	rs150943251	0.00006
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe)	rs755804171	0.00006
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu)	rs570334955	0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln)	rs763925138	0.00006
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly)	rs201717237	0.00006
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln)	rs148062469	0.00006
NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln)	rs938305311	0.00006
NM_024105.4(ALG12):c.241G>A (p.Ala81Thr)	rs770434145	0.00006
NM_024105.4(ALG12):c.403G>A (p.Ala135Thr)	rs761571791	0.00006
NM_024105.4(ALG12):c.58G>A (p.Val20Ile)	rs140468943	0.00006
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly)	rs752153404	0.00006
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu)	rs754476664	0.00006
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly)	rs369670496	0.00006
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro)	rs1279623882	0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe)	rs147346291	0.00006
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys)	rs375524916	0.00006
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys)	rs138803905	0.00006
NM_052859.4(RFT1):c.1447G>T (p.Ala483Ser)	rs549199208	0.00006
NM_138459.5(NUS1):c.246C>G (p.His82Gln)	rs1023259853	0.00006
NM_153741.2(DPM3):c.248C>T (p.Ala83Val)	rs777586354	0.00006
NM_000303.3(PMM2):c.*26C>T	rs138528126	0.00005
NM_000303.3(PMM2):c.524-5G>A	rs373584132	0.00005
NM_000303.3(PMM2):c.586G>A (p.Val196Met)	rs547216044	0.00005
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His)	rs1195010293	0.00005
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His)	rs1441099792	0.00005
NM_001099922.3(ALG13):c.2529+6C>G	rs1569520797	0.00005
NM_001099922.3(ALG13):c.2800C>T (p.Pro934Ser)	rs766833930	0.00005
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn)	rs750257151	0.00005
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly)	rs775191661	0.00005
NM_003863.4(DPM2):c.74C>G (p.Thr25Ser)	rs1026866240	0.00005
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys)	rs749229743	0.00005
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln)	rs199535796	0.00005
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln)	rs201984428	0.00005
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile)	rs754150966	0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala)	rs377064301	0.00005
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu)	rs147342916	0.00005
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys)	rs749270254	0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met)	rs143906919	0.00005
NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys)	rs374858734	0.00005
NM_024105.4(ALG12):c.358C>T (p.Arg120Trp)	rs772004305	0.00005
NM_024105.4(ALG12):c.436C>T (p.Arg146Trp)	rs567368110	0.00005
NM_024105.4(ALG12):c.469+4C>T	rs555319649	0.00005
NM_024105.4(ALG12):c.617T>A (p.Val206Glu)	rs150664343	0.00005
NM_033087.4(ALG2):c.368T>C (p.Val123Ala)	rs762560638	0.00005
NM_052859.4(RFT1):c.1590G>C (p.Gln530His)	rs1701001105	0.00005
NM_052859.4(RFT1):c.280G>A (p.Val94Met)	rs151030461	0.00005
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe)	rs896791770	0.00005
NM_000303.3(PMM2):c.447+4C>T	rs537238935	0.00004
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln)	rs371629121	0.00004
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg)	rs746897177	0.00004
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser)	rs765666509	0.00004
NM_001099922.3(ALG13):c.3085G>A (p.Val1029Ile)	rs368393741	0.00004
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr)	rs1064796719	0.00004
NM_001099922.3(ALG13):c.350A>T (p.His117Leu)	rs754497897	0.00004
NM_001382.4(DPAGT1):c.728+6T>C	rs373170483	0.00004
NM_002435.3(MPI):c.1175G>A (p.Arg392His)	rs762164813	0.00004
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val)	rs751121095	0.00004
NM_002633.3(PGM1):c.1160G>A (p.Arg387His)	rs548040301	0.00004
NM_002633.3(PGM1):c.1355G>A (p.Arg452His)	rs147763516	0.00004
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg)	rs1287963513	0.00004
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln)	rs188291855	0.00004
NM_002633.3(PGM1):c.708C>G (p.Ile236Met)	rs200237046	0.00004
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp)	rs146935617	0.00004
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp)	rs373944766	0.00004
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln)	rs754001081	0.00004
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu)	rs376257244	0.00004
NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr)	rs200909635	0.00004
NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg)	rs775877177	0.00004
NM_005216.5(DDOST):c.627G>A (p.Pro209=)	rs772970010	0.00004
NM_005216.5(DDOST):c.710G>A (p.Arg237His)	rs774094300	0.00004
NM_005216.5(DDOST):c.955G>A (p.Val319Met)	rs921210147	0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu)	rs371908109	0.00004
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His)	rs761913726	0.00004
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val)	rs766224435	0.00004
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser)	rs941238473	0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile)	rs752689489	0.00004
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg)	rs142935490	0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)	rs201247720	0.00004
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala)	rs368086400	0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val)	rs562934427	0.00004
NM_013339.4(ALG6):c.916T>G (p.Phe306Val)	rs769417698	0.00004
NM_014908.4(DOLK):c.1069C>T (p.Pro357Ser)	rs1267588037	0.00004
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp)	rs758129067	0.00004
NM_014908.4(DOLK):c.1270A>G (p.Arg424Gly)	rs778808864	0.00004
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro)	rs189623590	0.00004
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr)	rs774524497	0.00004
NM_014908.4(DOLK):c.839G>A (p.Arg280His)	rs779503646	0.00004
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr)	rs138275657	0.00004
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn)	rs200353530	0.00004
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu)	rs397839861	0.00004
NM_019109.5(ALG1):c.539+3G>C	rs1040920105	0.00004
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala)	rs1011307139	0.00004
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg)	rs1373315673	0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys)	rs774593969	0.00004
NM_019109.5(ALG1):c.919C>G (p.Leu307Val)	rs368735974	0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser)	rs758154434	0.00004
NM_024105.4(ALG12):c.1028C>T (p.Ala343Val)	rs374812633	0.00004
NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln)	rs553349150	0.00004
NM_024105.4(ALG12):c.479C>T (p.Ala160Val)	rs762826904	0.00004
NM_024105.4(ALG12):c.809G>A (p.Arg270His)	rs781707642	0.00004
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser)	rs751915470	0.00004
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe)	rs375631589	0.00004
NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys)	rs772795484	0.00004
NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser)	rs770085775	0.00004
NM_024740.2(ALG9):c.128C>T (p.Thr43Ile)	rs1377024435	0.00004
NM_033087.4(ALG2):c.1156A>G (p.Met386Val)	rs772649099	0.00004
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His)	rs376959842	0.00004
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp)	rs761793563	0.00004
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys)	rs1372670324	0.00004
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys)	rs1156439417	0.00004
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp)	rs780287266	0.00004
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser)	rs925393788	0.00004
NM_052859.4(RFT1):c.1018G>A (p.Gly340Ser)	rs568474177	0.00004
NM_052859.4(RFT1):c.1214A>G (p.Asn405Ser)	rs111924005	0.00004
NM_052859.4(RFT1):c.1598T>C (p.Val533Ala)	rs747610673	0.00004
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr)	rs1045604063	0.00004
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr)	rs778766264	0.00004
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val)	rs201067230	0.00003
NM_001099922.3(ALG13):c.1958G>A (p.Arg653Gln)	rs779911093	0.00003
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser)	rs972892187	0.00003
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val)	rs200065327	0.00003
NM_002633.3(PGM1):c.138C>A (p.Thr46=)	rs767357022	0.00003
NM_002633.3(PGM1):c.318C>G (p.Ile106Met)	rs781551165	0.00003
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln)	rs1324570980	0.00003
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys)	rs779093563	0.00003
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln)	rs74526704	0.00003
NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr)	rs770095687	0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp)	rs781305219	0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=)	rs147411055	0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser)	rs372416067	0.00003
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)	rs774594773	0.00003
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val)	rs199633614	0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu)	rs747354658	0.00003
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys)	rs759593402	0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg)	rs774118423	0.00003
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu)	rs772170459	0.00003
NM_013339.4(ALG6):c.430-3C>T	rs549094888	0.00003
NM_013339.4(ALG6):c.881G>A (p.Arg294His)	rs772248256	0.00003
NM_013339.4(ALG6):c.942A>G (p.Ile314Met)	rs774489558	0.00003
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser)	rs762835635	0.00003
NM_014908.4(DOLK):c.1130G>A (p.Arg377His)	rs374317240	0.00003
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro)	rs145125254	0.00003
NM_014908.4(DOLK):c.1333C>A (p.Leu445Met)	rs866088033	0.00003
NM_014908.4(DOLK):c.288G>C (p.Lys96Asn)	rs771259120	0.00003
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala)	rs933514904	0.00003
NM_019109.5(ALG1):c.29C>T (p.Ala10Val)	rs767455250	0.00003
NM_019109.5(ALG1):c.560G>A (p.Arg187His)	rs377600706	0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro)	rs777949225	0.00003
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly)	rs776908571	0.00003
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu)	rs767003110	0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys)	rs776299417	0.00003
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg)	rs142815771	0.00003
NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp)	rs745477655	0.00003
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln)	rs778413165	0.00003
NM_024105.4(ALG12):c.401C>T (p.Thr134Met)	rs201405631	0.00003
NM_024105.4(ALG12):c.496C>T (p.Arg166Trp)	rs375139092	0.00003
NM_024105.4(ALG12):c.502G>A (p.Glu168Lys)	rs754565538	0.00003
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln)	rs746493927	0.00003
NM_024105.4(ALG12):c.842T>G (p.Leu281Arg)	rs767435558	0.00003
NM_024105.4(ALG12):c.869C>T (p.Ala290Val)	rs201508940	0.00003
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser)	rs199937362	0.00003
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys)	rs746215829	0.00003
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg)	rs764835755	0.00003
NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser)	rs374807694	0.00003
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp)	rs782084496	0.00003
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys)	rs1329170357	0.00003
NM_033087.4(ALG2):c.1A>G (p.Met1Val)	rs750172644	0.00003
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp)	rs934545988	0.00003
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp)	rs752081241	0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser)	rs377047079	0.00003
NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg)	rs201876415	0.00003
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu)	rs886058728	0.00003
NM_052859.4(RFT1):c.1285G>A (p.Val429Met)	rs145175244	0.00003
NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp)	rs146610276	0.00003
NM_052859.4(RFT1):c.200G>A (p.Arg67His)	rs753527390	0.00003
NM_052859.4(RFT1):c.590A>G (p.Tyr197Cys)	rs781527440	0.00003
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly)	rs766042717	0.00003
NM_138459.5(NUS1):c.445A>G (p.Met149Val)	rs1276753307	0.00003
NM_000303.3(PMM2):c.154G>C (p.Val52Leu)	rs148608841	0.00002
NM_000303.3(PMM2):c.447+5G>A	rs367852554	0.00002
NM_000303.3(PMM2):c.680T>C (p.Met227Thr)	rs772410793	0.00002
NM_000303.3(PMM2):c.69A>G (p.Lys23=)	rs1189907173	0.00002
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu)	rs748117240	0.00002
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys)	rs1272022379	0.00002
NM_001099922.3(ALG13):c.1397G>A (p.Arg466His)	rs371858098	0.00002
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His)	rs760560180	0.00002
NM_001099922.3(ALG13):c.148C>T (p.Pro50Ser)	rs1461394942	0.00002
NM_001099922.3(ALG13):c.1664A>G (p.Asn555Ser)	rs1198802633	0.00002
NM_001099922.3(ALG13):c.1670T>C (p.Met557Thr)	rs1255485671	0.00002
NM_001099922.3(ALG13):c.1804A>G (p.Met602Val)	rs370151362	0.00002
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr)	rs1194966893	0.00002
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe)	rs919912146	0.00002
NM_001099922.3(ALG13):c.207A>C (p.Glu69Asp)	rs745826764	0.00002
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys)	rs1376010208	0.00002
NM_001099922.3(ALG13):c.2194A>G (p.Ile732Val)	rs1278669534	0.00002
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His)	rs750005344	0.00002
NM_001099922.3(ALG13):c.2529+3A>G	rs1943111596	0.00002
NM_001099922.3(ALG13):c.2726C>A (p.Ser909Tyr)	rs377097716	0.00002
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe)	rs758632567	0.00002
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg)	rs753692221	0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His)	rs1264248744	0.00002
NM_001099922.3(ALG13):c.532A>G (p.Thr178Ala)	rs754377859	0.00002
NM_001099922.3(ALG13):c.680G>A (p.Gly227Asp)	rs760283484	0.00002
NM_001099922.3(ALG13):c.834+3A>G	rs370066652	0.00002
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln)	rs747825322	0.00002
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu)	rs764519878	0.00002
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu)	rs751806317	0.00002
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro)	rs772211450	0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys)	rs28934876	0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met)	rs745872044	0.00002
NM_001382.4(DPAGT1):c.917+6C>T	rs539220035	0.00002
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp)	rs780497256	0.00002
NM_002435.3(MPI):c.1064C>T (p.Ser355Phe)	rs763169640	0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp)	rs775651976	0.00002
NM_002633.3(PGM1):c.254G>A (p.Arg85His)	rs200225686	0.00002
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn)	rs139241922	0.00002
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser)	rs369939483	0.00002
NM_003859.3(DPM1):c.622G>A (p.Val208Ile)	rs938379512	0.00002
NM_003863.4(DPM2):c.3+6A>G	rs776375979	0.00002
NM_005216.5(DDOST):c.109C>T (p.Leu37Phe)	rs150936849	0.00002
NM_005216.5(DDOST):c.619T>G (p.Phe207Val)	rs145758022	0.00002
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys)	rs370299179	0.00002
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys)	rs763022700	0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr)	rs144946016	0.00002
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg)	rs754014350	0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His)	rs774276857	0.00002
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu)	rs772179448	0.00002
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys)	rs368924297	0.00002
NM_013339.4(ALG6):c.1315A>G (p.Ile439Val)	rs1259683238	0.00002
NM_013339.4(ALG6):c.347-13C>G	rs981893296	0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln)	rs1287725303	0.00002
NM_013339.4(ALG6):c.681-5T>C	rs778405436	0.00002
NM_013339.4(ALG6):c.727G>A (p.Val243Ile)	rs367674567	0.00002
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr)	rs756608021	0.00002
NM_013339.4(ALG6):c.95C>T (p.Pro32Leu)	rs770413804	0.00002
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr)	rs769241947	0.00002
NM_014908.4(DOLK):c.1087G>A (p.Ala363Thr)	rs1588262062	0.00002
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs)	rs919111760	0.00002
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile)	rs372057636	0.00002
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys)	rs41305507	0.00002
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser)	rs761013512	0.00002
NM_014908.4(DOLK):c.429C>G (p.Ile143Met)	rs1261719011	0.00002
NM_014908.4(DOLK):c.572C>A (p.Pro191His)	rs767965852	0.00002
NM_014908.4(DOLK):c.589G>A (p.Val197Ile)	rs373587710	0.00002
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln)	rs373115419	0.00002
NM_019109.5(ALG1):c.1001A>G (p.His334Arg)	rs756058300	0.00002
NM_019109.5(ALG1):c.1055A>T (p.Asp352Val)	rs765238558	0.00002
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp)	rs764363207	0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr)	rs765599429	0.00002
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln)	rs3204229	0.00002
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala)	rs763309062	0.00002
NM_019109.5(ALG1):c.430G>A (p.Val144Met)	rs770392954	0.00002
NM_019109.5(ALG1):c.683A>G (p.Asp228Gly)	rs759264819	0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys)	rs201867255	0.00002
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser)	rs549071467	0.00002
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe)	rs761452986	0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe)	rs569218235	0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=)	rs886048686	0.00002
NM_024105.4(ALG12):c.1133G>A (p.Arg378Lys)	rs148798409	0.00002
NM_024105.4(ALG12):c.1183G>A (p.Val395Met)	rs759024738	0.00002
NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr)	rs755033821	0.00002
NM_024105.4(ALG12):c.1363G>A (p.Val455Met)	rs367671008	0.00002
NM_024105.4(ALG12):c.166G>A (p.Asp56Asn)	rs201033281	0.00002
NM_024105.4(ALG12):c.434C>T (p.Thr145Met)	rs748460466	0.00002
NM_024105.4(ALG12):c.470-3C>T	rs751546611	0.00002
NM_024105.4(ALG12):c.535G>A (p.Ala179Thr)	rs952664215	0.00002
NM_024105.4(ALG12):c.776C>T (p.Pro259Leu)	rs149109851	0.00002
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser)	rs748408459	0.00002
NM_024740.2(ALG9):c.188A>G (p.Lys63Arg)	rs781991188	0.00002
NM_024740.2(ALG9):c.388A>G (p.Ile130Val)	rs782298472	0.00002
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr)	rs138258236	0.00002
NM_033087.4(ALG2):c.1218G>C (p.Gln406His)	rs763754023	0.00002
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu)	rs777441526	0.00002
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln)	rs776974668	0.00002
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp)	rs376627887	0.00002
NM_033087.4(ALG2):c.361A>G (p.Ile121Val)	rs774204697	0.00002
NM_033087.4(ALG2):c.752G>A (p.Arg251His)	rs201729325	0.00002
NM_033087.4(ALG2):c.784G>T (p.Val262Phe)	rs1229029511	0.00002
NM_052859.4(RFT1):c.1102+5G>A	rs947230997	0.00002
NM_052859.4(RFT1):c.1187T>C (p.Met396Thr)	rs759448727	0.00002
NM_052859.4(RFT1):c.1286T>C (p.Val429Ala)	rs748400773	0.00002
NM_052859.4(RFT1):c.1354C>T (p.Arg452Cys)	rs754157422	0.00002
NM_052859.4(RFT1):c.1607G>A (p.Arg536His)	rs781398694	0.00002
NM_052859.4(RFT1):c.182T>C (p.Leu61Pro)	rs758269687	0.00002
NM_052859.4(RFT1):c.22G>T (p.Gly8Cys)	rs993455093	0.00002
NM_052859.4(RFT1):c.511G>A (p.Val171Met)	rs561602179	0.00002
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe)	rs745687063	0.00002
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser)	rs1433668009	0.00002
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg)	rs771454891	0.00002
NM_138459.5(NUS1):c.674C>T (p.Thr225Met)	rs760187558	0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys)	rs774553541	0.00002
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu)	rs773427971	0.00002
NM_000303.3(PMM2):c.127G>C (p.Val43Leu)	rs376754460	0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp)	rs773813007	0.00001
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser)	rs375826588	0.00001
NM_000303.3(PMM2):c.255+5G>T	rs370480677	0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=)	rs115344041	0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe)	rs1215262242	0.00001
NM_000303.3(PMM2):c.334C>G (p.Leu112Val)	rs757323701	0.00001
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys)	rs1159211374	0.00001
NM_000303.3(PMM2):c.523+3A>G	rs774107741	0.00001
NM_000303.3(PMM2):c.531G>C (p.Gln177His)	rs771162235	0.00001
NM_000303.3(PMM2):c.545T>A (p.Val182Asp)	rs774532663	0.00001
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg)	rs781346472	0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)	rs949271895	0.00001
NM_000303.3(PMM2):c.595G>C (p.Asp199His)	rs1281138749	0.00001
NM_000303.3(PMM2):c.645C>T (p.Gly215=)	rs765599626	0.00001
NM_000303.3(PMM2):c.652C>A (p.His218Asn)	rs398123310	0.00001
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg)	rs756365610	0.00001
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala)	rs765431074	0.00001
NM_001099922.3(ALG13):c.10G>A (p.Val4Met)	rs1245567722	0.00001
NM_001099922.3(ALG13):c.1305T>G (p.Asn435Lys)	rs1160640023	0.00001
NM_001099922.3(ALG13):c.1603C>T (p.His535Tyr)	rs1941811361	0.00001
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val)	rs1234385710	0.00001
NM_001099922.3(ALG13):c.1630C>T (p.Pro544Ser)	rs1941811792	0.00001
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala)	rs1238751751	0.00001
NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu)	rs1364102879	0.00001
NM_001099922.3(ALG13):c.1694A>G (p.Tyr565Cys)	rs1159974001	0.00001
NM_001099922.3(ALG13):c.1730-3A>T	rs1318967967	0.00001
NM_001099922.3(ALG13):c.1733T>C (p.Ile578Thr)	rs780580927	0.00001
NM_001099922.3(ALG13):c.1772A>G (p.Lys591Arg)	rs369838463	0.00001
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr)	rs774331771	0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys)	rs764031698	0.00001
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys)	rs1470650822	0.00001
NM_001099922.3(ALG13):c.2110C>T (p.Arg704Cys)	rs767153325	0.00001
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser)	rs775045681	0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg)	rs756114101	0.00001
NM_001099922.3(ALG13):c.2351A>G (p.Asn784Ser)	rs1478132547	0.00001
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln)	rs374290658	0.00001
NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro)	rs781652731	0.00001
NM_001099922.3(ALG13):c.2529+5T>C	rs749420976	0.00001
NM_001099922.3(ALG13):c.2543T>C (p.Ile848Thr)	rs201541531	0.00001
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr)	rs1279923204	0.00001
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro)	rs199990990	0.00001
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr)	rs748792396	0.00001
NM_001099922.3(ALG13):c.2853G>T (p.Glu951Asp)	rs755910935	0.00001
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp)	rs759347694	0.00001
NM_001099922.3(ALG13):c.3190G>A (p.Ala1064Thr)	rs756710193	0.00001
NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys)	rs1219035683	0.00001
NM_001099922.3(ALG13):c.3239C>T (p.Pro1080Leu)	rs375062698	0.00001
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser)	rs760819207	0.00001
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe)	rs1465704791	0.00001
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu)	rs1370248370	0.00001
NM_001099922.3(ALG13):c.3337G>A (p.Gly1113Ser)	rs755772374	0.00001
NM_001099922.3(ALG13):c.3382C>T (p.Pro1128Ser)	rs772141937	0.00001
NM_001099922.3(ALG13):c.358G>A (p.Gly120Ser)	rs778521226	0.00001
NM_001099922.3(ALG13):c.388C>G (p.Leu130Val)	rs1381653955	0.00001
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro)	rs1220905347	0.00001
NM_001099922.3(ALG13):c.43G>A (p.Asp15Asn)	rs776133794	0.00001
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr)	rs778099828	0.00001
NM_001099922.3(ALG13):c.602T>C (p.Leu201Pro)	rs1042682745	0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp)	rs886042566	0.00001
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe)	rs376996734	0.00001
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val)	rs555841797	0.00001
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)	rs1301940016	0.00001
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter)	rs187919120	0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile)	rs779911586	0.00001
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe)	rs1272156856	0.00001
NM_001382.4(DPAGT1):c.161+6C>T	rs762402071	0.00001
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg)	rs1041735569	0.00001
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp)	rs1234809605	0.00001
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg)	rs759595271	0.00001
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln)	rs368415403	0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys)	rs746187785	0.00001
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val)	rs532412952	0.00001
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser)	rs1229553796	0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys)	rs762796464	0.00001
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu)	rs1328286236	0.00001
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg)	rs775716973	0.00001
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=)	rs373632825	0.00001
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp)	rs1053302601	0.00001
NM_001382.4(DPAGT1):c.729-10C>A	rs1413156382	0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)	rs772988029	0.00001
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val)	rs376322200	0.00001
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys)	rs776632995	0.00001
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys)	rs751962765	0.00001
NM_002435.3(MPI):c.1A>G (p.Met1Val)	rs528828174	0.00001
NM_002435.3(MPI):c.746T>C (p.Ile249Thr)	rs201676072	0.00001
NM_002435.3(MPI):c.7G>A (p.Ala3Thr)	rs770421382	0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala)	rs1223295146	0.00001
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr)	rs748252747	0.00001
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val)	rs777570538	0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly)	rs757573887	0.00001
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys)	rs759782258	0.00001
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg)	rs377500536	0.00001
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser)	rs1213089649	0.00001
NM_002633.3(PGM1):c.425C>T (p.Ala142Val)	rs1276461747	0.00001
NM_002633.3(PGM1):c.76G>A (p.Val26Met)	rs1300863085	0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln)	rs1466885233	0.00001
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys)	rs778199808	0.00001
NM_002633.3(PGM1):c.986G>A (p.Arg329His)	rs747394265	0.00001
NM_003859.3(DPM1):c.168C>G (p.Ile56Met)	rs562769511	0.00001
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala)	rs1986767219	0.00001
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile)	rs750927313	0.00001
NM_003859.3(DPM1):c.35G>T (p.Arg12Met)	rs559291357	0.00001
NM_003859.3(DPM1):c.49C>G (p.Leu17Val)	rs761143591	0.00001
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser)	rs727503905	0.00001
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln)	rs11553474	0.00001
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg)	rs747972169	0.00001
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln)	rs769390268	0.00001
NM_003859.3(DPM1):c.675C>T (p.Gly225=)	rs1414447653	0.00001
NM_003859.3(DPM1):c.678+4T>G	rs948892336	0.00001
NM_003859.3(DPM1):c.701G>A (p.Arg234His)	rs760322056	0.00001
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg)	rs1205339617	0.00001
NM_003859.3(DPM1):c.757T>G (p.Leu253Val)	rs773403940	0.00001
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala)	rs748394583	0.00001
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn)	rs771463310	0.00001
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu)	rs370170911	0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His)	rs1275174624	0.00001
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn)	rs755055369	0.00001
NM_003863.4(DPM2):c.184C>G (p.Leu62Val)	rs766817693	0.00001
NM_003863.4(DPM2):c.197-9_197-8insA	rs1314437874	0.00001
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala)	rs759597928	0.00001
NM_003863.4(DPM2):c.3+5G>A	rs1333396682	0.00001
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys)	rs772047932	0.00001
NM_004870.4(MPDU1):c.184G>A (p.Val62Met)	rs777819415	0.00001
NM_004870.4(MPDU1):c.303-16A>G	rs566030367	0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs)	rs756471132	0.00001
NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln)	rs200077070	0.00001
NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn)	rs886045864	0.00001
NM_005216.5(DDOST):c.10A>G (p.Ser4Gly)	rs1166127455	0.00001
NM_005216.5(DDOST):c.1196C>T (p.Thr399Met)	rs530990753	0.00001
NM_005216.5(DDOST):c.119G>A (p.Arg40Gln)	rs761548809	0.00001
NM_005216.5(DDOST):c.154G>A (p.Asp52Asn)	rs778335267	0.00001
NM_005216.5(DDOST):c.188A>C (p.Asp63Ala)	rs2053427789	0.00001
NM_005216.5(DDOST):c.502A>G (p.Thr168Ala)	rs372948054	0.00001
NM_005216.5(DDOST):c.597G>A (p.Thr199=)	rs755031163	0.00001
NM_005216.5(DDOST):c.709C>T (p.Arg237Cys)	rs748804145	0.00001
NM_005787.6(ALG3):c.1108T>C (p.Tyr370His)	rs377073728	0.00001
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln)	rs775068875	0.00001
NM_005787.6(ALG3):c.223A>G (p.Met75Val)	rs961577496	0.00001
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp)	rs773227426	0.00001
NM_005787.6(ALG3):c.863C>T (p.Ala288Val)	rs772081381	0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)	rs756802179	0.00001
NM_005787.6(ALG3):c.977G>A (p.Arg326Lys)	rs1718953951	0.00001
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val)	rs374873455	0.00001
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala)	rs147833091	0.00001
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu)	rs201857139	0.00001
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala)	rs1381866878	0.00001
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu)	rs770611939	0.00001
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp)	rs907470146	0.00001
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val)	rs1193899105	0.00001
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly)	rs761024266	0.00001
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu)	rs942181771	0.00001
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val)	rs374410950	0.00001
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg)	rs766998428	0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn)	rs777130500	0.00001
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val)	rs1289485537	0.00001
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys)	rs1300082047	0.00001
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile)	rs1247351393	0.00001
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)	rs879082266	0.00001
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile)	rs369952560	0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu)	rs571403150	0.00001
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg)	rs946611542	0.00001
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys)	rs753314616	0.00001
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)	rs773660973	0.00001
NM_013339.4(ALG6):c.1129A>G (p.Met377Val)	rs934616664	0.00001
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser)	rs150976885	0.00001
NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile)	rs1461862944	0.00001
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile)	rs1212756714	0.00001
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg)	rs1475278999	0.00001
NM_013339.4(ALG6):c.1326+6T>A	rs765364882	0.00001
NM_013339.4(ALG6):c.1366A>G (p.Met456Val)	rs1463890121	0.00001
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser)	rs752244400	0.00001
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu)	rs548994709	0.00001
NM_013339.4(ALG6):c.1444T>G (p.Phe482Val)	rs1215619833	0.00001
NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr)	rs749363896	0.00001
NM_013339.4(ALG6):c.1456T>G (p.Leu486Val)	rs1274029656	0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?)	rs759636698	0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu)	rs201074540	0.00001
NM_013339.4(ALG6):c.237T>G (p.His79Gln)	rs747184607	0.00001
NM_013339.4(ALG6):c.26T>C (p.Val9Ala)	rs1456036206	0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His)	rs760245924	0.00001
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu)	rs1407217511	0.00001
NM_013339.4(ALG6):c.470T>G (p.Ile157Ser)	rs768049817	0.00001
NM_013339.4(ALG6):c.475A>G (p.Ile159Val)	rs531362960	0.00001
NM_013339.4(ALG6):c.476T>C (p.Ile159Thr)	rs1037253381	0.00001
NM_013339.4(ALG6):c.529G>A (p.Gly177Ser)	rs1250215676	0.00001
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr)	rs878890161	0.00001
NM_013339.4(ALG6):c.591A>G (p.Ile197Met)	rs753024606	0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg)	rs140879997	0.00001
NM_013339.4(ALG6):c.816+4T>C	rs762931650	0.00001
NM_013339.4(ALG6):c.862A>G (p.Ile288Val)	rs557790186	0.00001
NM_013339.4(ALG6):c.886A>G (p.Ile296Val)	rs1450720827	0.00001
NM_013339.4(ALG6):c.914C>T (p.Thr305Met)	rs546145736	0.00001
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro)	rs1212125571	0.00001
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln)	rs759025031	0.00001
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu)	rs371882757	0.00001
NM_014908.4(DOLK):c.1129C>T (p.Arg377Cys)	rs868232833	0.00001
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala)	rs747285047	0.00001
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe)	rs982668501	0.00001
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly)	rs753795845	0.00001
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln)	rs748688866	0.00001
NM_014908.4(DOLK):c.1249C>T (p.Leu417Phe)	rs771007659	0.00001
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu)	rs1352546858	0.00001
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro)	rs1306365829	0.00001
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe)	rs112448460	0.00001
NM_014908.4(DOLK):c.1357G>C (p.Val453Leu)	rs1294479059	0.00001
NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser)	rs748468540	0.00001
NM_014908.4(DOLK):c.1373G>T (p.Gly458Val)	rs999023298	0.00001
NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn)	rs1336940137	0.00001
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu)	rs780799327	0.00001
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val)	rs767693634	0.00001
NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile)	rs1166313359	0.00001
NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys)	rs537893599	0.00001
NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe)	rs1841648949	0.00001
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe)	rs140350881	0.00001
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp)	rs1403792413	0.00001
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu)	rs771383826	0.00001
NM_014908.4(DOLK):c.187C>G (p.Leu63Val)	rs1385561774	0.00001
NM_014908.4(DOLK):c.194A>G (p.Gln65Arg)	rs754744977	0.00001
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile)	rs753603168	0.00001
NM_014908.4(DOLK):c.216G>T (p.Gln72His)	rs767180137	0.00001
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu)	rs1310123344	0.00001
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp)	rs747555089	0.00001
NM_014908.4(DOLK):c.374del (p.Ser125fs)	rs1156844272	0.00001
NM_014908.4(DOLK):c.401G>A (p.Arg134His)	rs768596252	0.00001
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe)	rs780422418	0.00001
NM_014908.4(DOLK):c.448G>T (p.Val150Phe)	rs900642092	0.00001
NM_014908.4(DOLK):c.463A>T (p.Met155Leu)	rs1218829181	0.00001
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr)	rs1246967572	0.00001
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp)	rs1329633231	0.00001
NM_014908.4(DOLK):c.493A>G (p.Ile165Val)	rs762432181	0.00001
NM_014908.4(DOLK):c.523G>A (p.Val175Ile)	rs145177598	0.00001
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys)	rs1201588280	0.00001
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu)	rs377658203	0.00001
NM_014908.4(DOLK):c.581C>T (p.Ala194Val)	rs763132281	0.00001
NM_014908.4(DOLK):c.603T>G (p.Ile201Met)	rs765382712	0.00001
NM_014908.4(DOLK):c.703G>A (p.Val235Ile)	rs759019995	0.00001
NM_014908.4(DOLK):c.710T>C (p.Met237Thr)	rs201363976	0.00001
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser)	rs765475110	0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn)	rs876657786	0.00001
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr)	rs764980710	0.00001
NM_014908.4(DOLK):c.767C>T (p.Ser256Phe)	rs1186154711	0.00001
NM_014908.4(DOLK):c.86C>T (p.Ala29Val)	rs1401208309	0.00001
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys)	rs780974264	0.00001
NM_014908.4(DOLK):c.910T>C (p.Trp304Arg)	rs1413752276	0.00001
NM_014908.4(DOLK):c.964C>T (p.Arg322Trp)	rs1350623268	0.00001
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro)	rs750702584	0.00001
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser)	rs983547319	0.00001
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met)	rs762385611	0.00001
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn)	rs1308517122	0.00001
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr)	rs1413293071	0.00001
NM_019109.5(ALG1):c.1293G>A (p.Ala431=)	rs1047714	0.00001
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg)	rs1281758881	0.00001
NM_019109.5(ALG1):c.1360G>A (p.Val454Met)	rs1957095896	0.00001
NM_019109.5(ALG1):c.142C>T	rs1051082443	0.00001
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr)	rs1314923558	0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val)	rs794727301	0.00001
NM_019109.5(ALG1):c.287T>C (p.Val96Ala)	rs534863399	0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln)	rs1349600746	0.00001
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys)	rs200094659	0.00001
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe)	rs767756401	0.00001
NM_019109.5(ALG1):c.516T>G (p.His172Gln)	rs1310088513	0.00001
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser)	rs760563077	0.00001
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser)	rs780593921	0.00001
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln)	rs199674071	0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser)	rs528261173	0.00001
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu)	rs1386626500	0.00001
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser)	rs1263087642	0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met)	rs534622519	0.00001
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly)	rs1234795312	0.00001
NM_019109.5(ALG1):c.961+6G>T	rs1304012856	0.00001
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu)	rs1859926872	0.00001
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val)	rs990677542	0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val)	rs111831728	0.00001
NM_024079.5(ALG8):c.439G>T (p.Val147Leu)	rs748027702	0.00001
NM_024079.5(ALG8):c.479-3C>G	rs753257659	0.00001
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr)	rs1276719307	0.00001
NM_024105.4(ALG12):c.1043T>G (p.Val348Gly)	rs747813537	0.00001
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg)	rs377095724	0.00001
NM_024105.4(ALG12):c.1120G>A (p.Val374Ile)	rs761515996	0.00001
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu)	rs759794733	0.00001
NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala)	rs996114708	0.00001
NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys)	rs745510179	0.00001
NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp)	rs2060527901	0.00001
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp)	rs1569172835	0.00001
NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu)	rs778688714	0.00001
NM_024105.4(ALG12):c.223G>A (p.Ala75Thr)	rs761301009	0.00001
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu)	rs886057614	0.00001
NM_024105.4(ALG12):c.377T>G (p.Val126Gly)	rs556496917	0.00001
NM_024105.4(ALG12):c.390C>G (p.Phe130Leu)	rs1010347575	0.00001
NM_024105.4(ALG12):c.415C>T (p.His139Tyr)	rs200490756	0.00001
NM_024105.4(ALG12):c.449A>G (p.Asn150Ser)	rs2060570009	0.00001
NM_024105.4(ALG12):c.476T>G (p.Leu159Arg)	rs1410146441	0.00001
NM_024105.4(ALG12):c.508G>A (p.Ala170Thr)	rs751491422	0.00001
NM_024105.4(ALG12):c.550A>G (p.Arg184Gly)	rs1569176254	0.00001
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu)	rs777173365	0.00001
NM_024105.4(ALG12):c.713C>T (p.Pro238Leu)	rs1339045983	0.00001
NM_024105.4(ALG12):c.863C>T (p.Thr288Met)	rs748227291	0.00001
NM_024105.4(ALG12):c.872C>T (p.Pro291Leu)	rs778608834	0.00001
NM_024105.4(ALG12):c.887T>C (p.Leu296Pro)	rs774052738	0.00001
NM_024105.4(ALG12):c.944A>G (p.Tyr315Cys)	rs372655623	0.00001
NM_024105.4(ALG12):c.959T>C (p.Leu320Pro)	rs1200180536	0.00001
NM_024105.4(ALG12):c.968C>T (p.Thr323Met)	rs754936149	0.00001
NM_024105.4(ALG12):c.983G>A (p.Cys328Tyr)	rs1371150654	0.00001
NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg)	rs530006860	0.00001
NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val)	rs1175656094	0.00001
NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile)	rs758023141	0.00001
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu)	rs768516153	0.00001
NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser)	rs569181314	0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val)	rs1555122792	0.00001
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val)	rs782350313	0.00001
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys)	rs782251524	0.00001
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu)	rs544811110	0.00001
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln)	rs1828726794	0.00001
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu)	rs1828725925	0.00001
NM_033087.4(ALG2):c.107C>T (p.Ala36Val)	rs567637718	0.00001
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu)	rs754159662	0.00001
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val)	rs762887574	0.00001
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly)	rs963221673	0.00001
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn)	rs1475354932	0.00001
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu)	rs749613639	0.00001
NM_033087.4(ALG2):c.168G>A (p.Pro56=)	rs1225254115	0.00001
NM_033087.4(ALG2):c.202G>A (p.Val68Met)	rs770103603	0.00001
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu)	rs755705607	0.00001
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser)	rs941593352	0.00001
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser)	rs910168958	0.00001
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro)	rs770722154	0.00001
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla)	rs762654045	0.00001
NM_033087.4(ALG2):c.30del (p.Ser11fs)	rs763575022	0.00001
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln)	rs1025210566	0.00001
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile)	rs752746581	0.00001
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu)	rs746092484	0.00001
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp)	rs1486842886	0.00001
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro)	rs759789517	0.00001
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile)	rs1166295828	0.00001
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly)	rs745514949	0.00001
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter)	rs139547697	0.00001
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys)	rs189167741	0.00001
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile)	rs766853240	0.00001
NM_033087.4(ALG2):c.76G>A (p.Val26Met)	rs1280699944	0.00001
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro)	rs202053471	0.00001
NM_033087.4(ALG2):c.947C>T (p.Thr316Met)	rs764242401	0.00001
NM_052859.4(RFT1):c.1100C>A (p.Ser367Tyr)	rs991499046	0.00001
NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser)	rs483352764	0.00001
NM_052859.4(RFT1):c.1169G>A (p.Cys390Tyr)	rs758102329	0.00001
NM_052859.4(RFT1):c.1183G>A (p.Ala395Thr)	rs765115802	0.00001
NM_052859.4(RFT1):c.1315A>G (p.Met439Val)	rs754783004	0.00001
NM_052859.4(RFT1):c.1355G>A (p.Arg452His)	rs372822382	0.00001
NM_052859.4(RFT1):c.1376A>G (p.His459Arg)	rs144531852	0.00001
NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp)	rs1191825046	0.00001
NM_052859.4(RFT1):c.1417G>A (p.Gly473Arg)	rs754212502	0.00001
NM_052859.4(RFT1):c.1454C>T (p.Ser485Leu)	rs377516481	0.00001
NM_052859.4(RFT1):c.149+5G>A	rs775590840	0.00001
NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg)	rs927269749	0.00001
NM_052859.4(RFT1):c.155C>T (p.Thr52Met)	rs764531159	0.00001
NM_052859.4(RFT1):c.271C>T (p.Pro91Ser)	rs147915986	0.00001
NM_052859.4(RFT1):c.326A>C (p.Glu109Ala)	rs1384861869	0.00001
NM_052859.4(RFT1):c.386C>T (p.Ser129Leu)	rs754395993	0.00001
NM_052859.4(RFT1):c.541A>G (p.Ile181Val)	rs771804132	0.00001
NM_052859.4(RFT1):c.558+6A>T	rs886058726	0.00001
NM_052859.4(RFT1):c.63G>A (p.Gln21=)	rs139372284	0.00001
NM_052859.4(RFT1):c.64G>A (p.Val22Met)	rs374252619	0.00001
NM_052859.4(RFT1):c.665C>T (p.Thr222Ile)	rs1323618296	0.00001
NM_052859.4(RFT1):c.698C>T (p.Ala233Val)	rs751030368	0.00001
NM_052859.4(RFT1):c.728C>T (p.Thr243Ile)	rs762597470	0.00001
NM_052859.4(RFT1):c.839T>C (p.Ile280Thr)	rs757620281	0.00001
NM_052859.4(RFT1):c.968C>G (p.Ala323Gly)	rs770086765	0.00001
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp)	rs934670535	0.00001
NM_138459.5(NUS1):c.154C>G (p.Leu52Val)	rs1472312886	0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln)	rs1374617888	0.00001
NM_138459.5(NUS1):c.185T>G (p.Val62Gly)	rs754191035	0.00001
NM_138459.5(NUS1):c.202C>T (p.His68Tyr)	rs1392977734	0.00001
NM_138459.5(NUS1):c.262C>T (p.Arg88Cys)	rs1426327353	0.00001
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln)	rs1369494529	0.00001
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg)	rs540846579	0.00001
NM_138459.5(NUS1):c.351C>G (p.Ile117Met)	rs1344911571	0.00001
NM_138459.5(NUS1):c.46C>T (p.Leu16Phe)	rs962512059	0.00001
NM_138459.5(NUS1):c.487G>C (p.Asp163His)	rs369403261	0.00001
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu)	rs751210637	0.00001
NM_138459.5(NUS1):c.601G>A (p.Val201Ile)	rs1238998019	0.00001
NM_138459.5(NUS1):c.698A>G (p.Asn233Ser)	rs1198292880	0.00001
NM_138459.5(NUS1):c.787A>G (p.Ile263Val)	rs1773460765	0.00001
NM_138459.5(NUS1):c.790G>A (p.Val264Ile)	rs1562183021	0.00001
NM_138459.5(NUS1):c.845G>A (p.Arg282His)	rs140791750	0.00001
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr)	rs1204451277	0.00001
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr)	rs776662775	0.00001
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala)	rs745807155	0.00001
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu)	rs758821383	0.00001
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val)	rs559861697	0.00001
NM_178862.3(STT3B):c.490G>A (p.Val164Ile)	rs1223992368	0.00001
NM_201400.4(EEF2KMT):c.*893A>C	rs1047764	0.00001
NC_000001.10:g.(?_155112438)_(155112716_?)dup
NC_000001.10:g.(?_19199339)_(22987879_?)dup
NC_000001.10:g.(?_64059160)_(64059425_?)dup
NC_000001.11:g.(?_155139952)_(155140340_?)dup
NC_000001.11:g.(?_20652359)_(20661421_?)del
NC_000003.11:g.(?_182733226)_(184094097_?)del
NC_000003.11:g.(?_52109903)_(53164416_?)del
NC_000003.11:g.(?_53125919)_(53164416_?)dup
NC_000003.11:g.(?_53133377)_(53133522_?)del
NC_000003.11:g.(?_53155766)_(53156657_?)del
NC_000006.11:g.(?_117786180)_(117997268_?)dup
NC_000006.11:g.(?_118028088)_(118028178_?)del
NC_000009.11:g.(?_100190748)_(103062956_?)dup
NC_000009.11:g.(?_130216797)_(130953151_?)dup
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000009.12:g.(?_128945677)_(128947313_?)dup
NC_000011.9:g.(?_118967698)_(119170501_?)dup
NC_000012.11:g.(?_124191253)_(124207015_?)dup
NC_000013.10:g.(?_52538988)_(52602746_?)dup
NC_000016.10:g.(?_8750402)_(8801930_?)dup
NC_000016.10:g.(?_8764049)_(8811733_?)dup
NC_000016.10:g.(?_8768173)_(8832245_?)dup
NC_000016.10:g.(?_8772760)_(8847845_?)dup
NC_000016.10:g.(?_8781289)_(8847845_?)dup
NC_000016.9:g.(?_5121851)_(5127555_?)dup
NC_000016.9:g.(?_5130927)_(5131077_?)dup
NC_000016.9:g.(?_5132540)_(5134882_?)dup
NC_000016.9:g.(?_5134731)_(5134882_?)dup
NC_000016.9:g.(?_8839838)_(8900284_?)dup
NC_000016.9:g.(?_8839838)_(8905055_?)dup
NC_000016.9:g.(?_8839838)_(8941682_?)dup
NC_000016.9:g.(?_8891573)_(8941682_?)dup
NC_000016.9:g.(?_8891720)_(8900284_?)dup
NC_000016.9:g.(?_8926102)_(8941682_?)dup
NC_000020.10:g.(?_49557382)_(49558683_?)dup
NC_000022.10:g.(?_50167881)_(51066207_?)dup
NC_000022.10:g.(?_50297486)_(50301612_?)del
NC_000022.11:g.(?_49903818)_(49907964_?)del
NC_000023.10:g.(?_109919459)_(111003227_?)del
NC_000023.10:g.(?_110544895)_(111003247_?)del
NC_000023.10:g.(?_110924427)_(111003247_?)dup
NC_000023.10:g.(?_110973603)_(110973828_?)del
NC_000023.11:g.(?_111301667)_(111760019_?)dup
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
NM_000303.3(PMM2):c.127G>T (p.Val43Leu)	rs376754460
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu)	rs2141017011
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
NM_000303.3(PMM2):c.178+3A>G
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
NM_000303.3(PMM2):c.347+3G>A
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys)	rs104894530
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala)	rs886043289
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp)	rs2141022972
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn)	rs1473030550
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr)	rs2060675203
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
NM_000303.3(PMM2):c.472G>A (p.Val158Ile)	rs969802549
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr)	rs2141014078
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe)	rs183384745
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
NM_000303.3(PMM2):c.523+5T>C
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp)	rs940938678
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser)	rs1293479073
NM_000303.3(PMM2):c.544G>C (p.Val182Leu)	rs750862179
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr)	rs1555449795
NM_000303.3(PMM2):c.56C>T (p.Ala19Val)	rs750307011
NM_000303.3(PMM2):c.571T>C (p.Tyr191His)	rs1267170921
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser)	rs773420873
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser)
NM_000303.3(PMM2):c.599G>T (p.Gly200Val)
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg)	rs2060588870
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp)	rs758340382
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu)
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
NM_000303.3(PMM2):c.640-13C>A	rs372181885
NM_000303.3(PMM2):c.640-16C>G	rs2141051377
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
NM_000303.3(PMM2):c.67-6A>G
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg)	rs778488908
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr)	rs769177253
NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val)	rs757069433
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu)	rs2140832522
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly)	rs1444016944
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val)	rs1363416785
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys)	rs1954216629
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly)	rs142637770
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala)	rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu)	rs1593903383
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu)	rs2140840089
NM_001099922.3(ALG13):c.1001A>G (p.Asp334Gly)	rs1940092970
NM_001099922.3(ALG13):c.1003A>C (p.Lys335Gln)
NM_001099922.3(ALG13):c.1006A>G (p.Ile336Val)
NM_001099922.3(ALG13):c.1028G>A (p.Ser343Asn)
NM_001099922.3(ALG13):c.1070G>A (p.Ser357Asn)
NM_001099922.3(ALG13):c.1114G>A (p.Asp372Asn)	rs2148112840
NM_001099922.3(ALG13):c.1143G>C (p.Leu381Phe)
NM_001099922.3(ALG13):c.1144A>G (p.Lys382Glu)	rs1940898635
NM_001099922.3(ALG13):c.114C>G (p.Ile38Met)	rs1206750653
NM_001099922.3(ALG13):c.1225G>C (p.Asp409His)	rs940730126
NM_001099922.3(ALG13):c.1264G>A (p.Gly422Ser)	rs990346795
NM_001099922.3(ALG13):c.1310G>A (p.Gly437Glu)
NM_001099922.3(ALG13):c.1317A>C (p.Glu439Asp)
NM_001099922.3(ALG13):c.1318G>A (p.Glu440Lys)	rs2148136453
NM_001099922.3(ALG13):c.1326+3T>A
NM_001099922.3(ALG13):c.1436-3T>C
NM_001099922.3(ALG13):c.1474C>G (p.Gln492Glu)
NM_001099922.3(ALG13):c.1481A>G (p.Tyr494Cys)
NM_001099922.3(ALG13):c.1483T>G (p.Leu495Val)
NM_001099922.3(ALG13):c.1491C>A (p.Asp497Glu)
NM_001099922.3(ALG13):c.1501-5T>C
NM_001099922.3(ALG13):c.1518A>T (p.Glu506Asp)	rs1941679245
NM_001099922.3(ALG13):c.1562A>G (p.Asn521Ser)
NM_001099922.3(ALG13):c.159T>C (p.Thr53=)
NM_001099922.3(ALG13):c.1619C>G (p.Ala540Gly)	rs1234385710
NM_001099922.3(ALG13):c.1641A>T (p.Gln547His)	rs768589790
NM_001099922.3(ALG13):c.1642G>A (p.Val548Met)	rs1941813123
NM_001099922.3(ALG13):c.164C>T (p.Ser55Leu)	rs1933620653
NM_001099922.3(ALG13):c.1651G>C (p.Val551Leu)
NM_001099922.3(ALG13):c.1691G>T (p.Gly564Val)
NM_001099922.3(ALG13):c.1706C>T (p.Pro569Leu)
NM_001099922.3(ALG13):c.1730-9G>A	rs767872924
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val)	rs199505558
NM_001099922.3(ALG13):c.1838C>G (p.Pro613Arg)
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser)	rs1942117760
NM_001099922.3(ALG13):c.1843C>G (p.Leu615Val)	rs374231091
NM_001099922.3(ALG13):c.1844T>G (p.Leu615Arg)
NM_001099922.3(ALG13):c.1886A>G (p.Tyr629Cys)
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg)	rs1602745141
NM_001099922.3(ALG13):c.1900G>C (p.Gly634Arg)
NM_001099922.3(ALG13):c.1909A>G (p.Met637Val)
NM_001099922.3(ALG13):c.191A>G (p.Lys64Arg)	rs2147626333
NM_001099922.3(ALG13):c.1930C>G (p.Pro644Ala)
NM_001099922.3(ALG13):c.1945C>G (p.Pro649Ala)
NM_001099922.3(ALG13):c.1946C>T (p.Pro649Leu)
NM_001099922.3(ALG13):c.1969A>G (p.Met657Val)	rs2148221188
NM_001099922.3(ALG13):c.197C>A (p.Ser66Tyr)
NM_001099922.3(ALG13):c.2003ACA[1] (p.Asn669del)	rs1489100083
NM_001099922.3(ALG13):c.2022A>T (p.Lys674Asn)
NM_001099922.3(ALG13):c.2023G>A (p.Val675Ile)	rs2148225487
NM_001099922.3(ALG13):c.2024T>G (p.Val675Gly)	rs2148225523
NM_001099922.3(ALG13):c.2027A>C (p.Asp676Ala)
NM_001099922.3(ALG13):c.2048A>G (p.Lys683Arg)	rs1942189933
NM_001099922.3(ALG13):c.2053T>A (p.Cys685Ser)
NM_001099922.3(ALG13):c.2077T>A (p.Ser693Thr)	rs1942193577
NM_001099922.3(ALG13):c.2090G>A (p.Arg697His)	rs1416055334
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe)	rs1569519563
NM_001099922.3(ALG13):c.2206G>A (p.Glu736Lys)	rs2148229477
NM_001099922.3(ALG13):c.2222A>G (p.Asp741Gly)	rs1942226321
NM_001099922.3(ALG13):c.2237C>T (p.Pro746Leu)
NM_001099922.3(ALG13):c.2239A>G (p.Thr747Ala)
NM_001099922.3(ALG13):c.2261C>T (p.Pro754Leu)	rs1242753495
NM_001099922.3(ALG13):c.2282C>T (p.Thr761Ile)	rs2148234911
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
NM_001099922.3(ALG13):c.2293T>C (p.Cys765Arg)	rs927961674
NM_001099922.3(ALG13):c.2296G>A (p.Val766Ile)
NM_001099922.3(ALG13):c.22G>C (p.Val8Leu)	rs2147592883
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg)	rs1556509706
NM_001099922.3(ALG13):c.2332T>G (p.Leu778Val)	rs755678773
NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe)	rs1942288359
NM_001099922.3(ALG13):c.2367T>A (p.Asn789Lys)
NM_001099922.3(ALG13):c.2384A>T (p.Glu795Val)	rs2148261992
NM_001099922.3(ALG13):c.2398G>T (p.Ala800Ser)
NM_001099922.3(ALG13):c.2402-3T>C	rs1942568665
NM_001099922.3(ALG13):c.2411A>G (p.Tyr804Cys)
NM_001099922.3(ALG13):c.2440G>A (p.Ala814Thr)
NM_001099922.3(ALG13):c.2453A>T (p.Asn818Ile)	rs770109323
NM_001099922.3(ALG13):c.2458-12_2458-10del
NM_001099922.3(ALG13):c.2458-15_2486del	rs770762084
NM_001099922.3(ALG13):c.2458-1G>A	rs1008287339
NM_001099922.3(ALG13):c.2465A>G (p.Gln822Arg)
NM_001099922.3(ALG13):c.2476T>A (p.Ser826Thr)
NM_001099922.3(ALG13):c.2479T>A (p.Cys827Ser)	rs1943106113
NM_001099922.3(ALG13):c.2494C>G (p.Gln832Glu)	rs2148314775
NM_001099922.3(ALG13):c.2495A>G (p.Gln832Arg)
NM_001099922.3(ALG13):c.2503G>A (p.Val835Ile)	rs1943108263
NM_001099922.3(ALG13):c.2516A>G (p.Asn839Ser)	rs1943109281
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys)	rs1602807307
NM_001099922.3(ALG13):c.2529G>A (p.Lys843=)
NM_001099922.3(ALG13):c.2536G>A (p.Gly846Arg)
NM_001099922.3(ALG13):c.256T>A (p.Cys86Ser)	rs1934564084
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser)	rs1556516921
NM_001099922.3(ALG13):c.2578C>G (p.Pro860Ala)	rs2148331392
NM_001099922.3(ALG13):c.2582C>T (p.Ala861Val)
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe)	rs1556516959
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser)	rs1408463417
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe)	rs755213977
NM_001099922.3(ALG13):c.2623A>G (p.Ser875Gly)
NM_001099922.3(ALG13):c.2624G>A (p.Ser875Asn)	rs757522953
NM_001099922.3(ALG13):c.2635G>C (p.Val879Leu)	rs2148332060
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup)	rs1276026793
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val)	rs1556517111
NM_001099922.3(ALG13):c.2668G>C (p.Val890Leu)
NM_001099922.3(ALG13):c.2677C>T (p.Pro893Ser)
NM_001099922.3(ALG13):c.2680A>G (p.Thr894Ala)
NM_001099922.3(ALG13):c.2687G>A (p.Gly896Asp)
NM_001099922.3(ALG13):c.2714A>G (p.Tyr905Cys)
NM_001099922.3(ALG13):c.2731A>G (p.Ile911Val)
NM_001099922.3(ALG13):c.2754ACC[19] (p.Pro942_Pro945dup)	rs750710267
NM_001099922.3(ALG13):c.2754ACC[21] (p.Pro940_Pro945dup)	rs750710267
NM_001099922.3(ALG13):c.2754ACC[7] (p.Pro938_Pro945del)	rs750710267
NM_001099922.3(ALG13):c.2754ACC[9] (p.Pro940_Pro945del)	rs750710267
NM_001099922.3(ALG13):c.2755C>A (p.Pro919Thr)	rs1944061818
NM_001099922.3(ALG13):c.2756C>A (p.Pro919Gln)
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
NM_001099922.3(ALG13):c.2758C>T (p.Pro920Ser)
NM_001099922.3(ALG13):c.2768C>A (p.Pro923Gln)
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu)	rs1047232159
NM_001099922.3(ALG13):c.2792C>T (p.Pro931Leu)
NM_001099922.3(ALG13):c.2795C>A (p.Pro932Gln)	rs773392173
NM_001099922.3(ALG13):c.2795C>T (p.Pro932Leu)	rs773392173
NM_001099922.3(ALG13):c.2797CCT[5] (p.Pro938_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[6] (p.Pro939_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[7] (p.Pro940_Pro945del)	rs56717389
NM_001099922.3(ALG13):c.2797_2798insGAC (p.Pro932_Pro933insArg)
NM_001099922.3(ALG13):c.2798_2799insACCACCACCACCACCACCTCC (p.Pro945_Ala946insProProProProProProPro)
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCC (p.Pro942_Pro945dup)	rs1569522034
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCCTCC (p.Pro945_Ala946insProProProProPro)
NM_001099922.3(ALG13):c.2801C>T (p.Pro934Leu)	rs2148405253
NM_001099922.3(ALG13):c.2809C>G (p.Pro937Ala)	rs1358741065
NM_001099922.3(ALG13):c.2815C>T (p.Pro939Ser)
NM_001099922.3(ALG13):c.2818C>A (p.Pro940Thr)
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala)	rs887315764
NM_001099922.3(ALG13):c.2827C>T (p.Pro943Ser)
NM_001099922.3(ALG13):c.2828_2839del (p.Pro943_Ala946del)	rs1569522062
NM_001099922.3(ALG13):c.2831_2839del (p.Pro944_Ala946del)	rs1944088858
NM_001099922.3(ALG13):c.2845G>A (p.Val949Met)
NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu)	rs2147692312
NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe)
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup)	rs771610606
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del)	rs746614953
NM_001099922.3(ALG13):c.2887C>T (p.Pro963Ser)	rs771778284
NM_001099922.3(ALG13):c.2888C>T (p.Pro963Leu)
NM_001099922.3(ALG13):c.2912G>A (p.Ser971Asn)	rs2148407042
NM_001099922.3(ALG13):c.2983C>A (p.His995Asn)	rs1945383559
NM_001099922.3(ALG13):c.3023AGC[2] (p.Gln1010del)	rs770600982
NM_001099922.3(ALG13):c.3035A>C (p.His1012Pro)
NM_001099922.3(ALG13):c.3037G>A (p.Val1013Ile)
NM_001099922.3(ALG13):c.3067C>T (p.Pro1023Ser)	rs2148514193
NM_001099922.3(ALG13):c.3088C>A (p.Pro1030Thr)	rs1156871693
NM_001099922.3(ALG13):c.3095G>A (p.Cys1032Tyr)
NM_001099922.3(ALG13):c.3105G>T (p.Glu1035Asp)
NM_001099922.3(ALG13):c.3108GAG[1] (p.Arg1038del)
NM_001099922.3(ALG13):c.3117A>T (p.Glu1039Asp)	rs2148514625
NM_001099922.3(ALG13):c.3119A>G (p.Asp1040Gly)	rs2148514658
NM_001099922.3(ALG13):c.3124A>G (p.Ile1042Val)	rs2148514763
NM_001099922.3(ALG13):c.312G>C (p.Leu104Phe)
NM_001099922.3(ALG13):c.3131C>T (p.Ala1044Val)
NM_001099922.3(ALG13):c.3146A>G (p.Asn1049Ser)
NM_001099922.3(ALG13):c.3158C>T (p.Pro1053Leu)
NM_001099922.3(ALG13):c.3181C>T (p.Pro1061Ser)	rs1945590685
NM_001099922.3(ALG13):c.3182C>T (p.Pro1061Leu)
NM_001099922.3(ALG13):c.3184C>T (p.His1062Tyr)	rs750471213
NM_001099922.3(ALG13):c.3205G>A (p.Val1069Ile)	rs2148530841
NM_001099922.3(ALG13):c.3211T>G (p.Ser1071Ala)	rs2148530883
NM_001099922.3(ALG13):c.3218C>G (p.Pro1073Arg)
NM_001099922.3(ALG13):c.3251C>A (p.Ser1084Tyr)	rs1945595856
NM_001099922.3(ALG13):c.3260C>T (p.Pro1087Leu)	rs1945596491
NM_001099922.3(ALG13):c.3281G>A (p.Cys1094Tyr)
NM_001099922.3(ALG13):c.3290C>T (p.Pro1097Leu)
NM_001099922.3(ALG13):c.3301G>T (p.Val1101Phe)	rs1370248370
NM_001099922.3(ALG13):c.3347A>G (p.Asn1116Ser)	rs1323383971
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala)	rs1603004235
NM_001099922.3(ALG13):c.3391C>T (p.His1131Tyr)
NM_001099922.3(ALG13):c.3398T>A (p.Val1133Glu)
NM_001099922.3(ALG13):c.3400C>T (p.Pro1134Ser)
NM_001099922.3(ALG13):c.359G>A (p.Gly120Asp)	rs1934591547
NM_001099922.3(ALG13):c.35G>A (p.Ser12Asn)	rs2147593382
NM_001099922.3(ALG13):c.361C>T (p.His121Tyr)
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly)	rs1556449735
NM_001099922.3(ALG13):c.377C>A (p.Thr126Asn)
NM_001099922.3(ALG13):c.382A>G (p.Arg128Gly)	rs1934600580
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu)	rs1602635058
NM_001099922.3(ALG13):c.410A>G (p.Lys137Arg)
NM_001099922.3(ALG13):c.422C>T (p.Ser141Phe)	rs1432301604
NM_001099922.3(ALG13):c.424G>A (p.Ala142Thr)	rs1939098208
NM_001099922.3(ALG13):c.430G>A (p.Gly144Arg)	rs1452792292
NM_001099922.3(ALG13):c.43G>T (p.Asp15Tyr)	rs776133794
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val)	rs1060500008
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer)	rs964823190
NM_001099922.3(ALG13):c.463A>G (p.Thr155Ala)
NM_001099922.3(ALG13):c.463del (p.Thr155fs)
NM_001099922.3(ALG13):c.476_481del (p.Gly159_Leu160del)	rs750251838
NM_001099922.3(ALG13):c.497C>G (p.Ser166Cys)	rs2147996812
NM_001099922.3(ALG13):c.518C>G (p.Ala173Gly)
NM_001099922.3(ALG13):c.518C>T (p.Ala173Val)	rs188589829
NM_001099922.3(ALG13):c.52_54dup (p.Ala18dup)	rs1933041651
NM_001099922.3(ALG13):c.539C>T (p.Pro180Leu)
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser)	rs774646647
NM_001099922.3(ALG13):c.563C>G (p.Ser188Cys)	rs772044321
NM_001099922.3(ALG13):c.568C>T (p.His190Tyr)	rs1939123103
NM_001099922.3(ALG13):c.593C>T (p.Thr198Ile)
NM_001099922.3(ALG13):c.597del (p.Thr200fs)	rs2147998012
NM_001099922.3(ALG13):c.598A>G (p.Thr200Ala)
NM_001099922.3(ALG13):c.598_602del (p.Thr200fs)	rs1939127665
NM_001099922.3(ALG13):c.628A>C (p.Asn210His)
NM_001099922.3(ALG13):c.62C>G (p.Ser21Trp)
NM_001099922.3(ALG13):c.62C>T (p.Ser21Leu)	rs1602457991
NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys)	rs1556483387
NM_001099922.3(ALG13):c.649T>G (p.Leu217Val)	rs2147998654
NM_001099922.3(ALG13):c.64G>A (p.Ala22Thr)	rs1933048489
NM_001099922.3(ALG13):c.65C>A (p.Ala22Glu)
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu)	rs1602636547
NM_001099922.3(ALG13):c.664A>G (p.Met222Val)	rs766905095
NM_001099922.3(ALG13):c.683G>T (p.Ser228Ile)	rs1186351490
NM_001099922.3(ALG13):c.716A>G (p.Asp239Gly)	rs1939143318
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn)	rs1057522540
NM_001099922.3(ALG13):c.750+6del
NM_001099922.3(ALG13):c.751T>C (p.Leu251=)
NM_001099922.3(ALG13):c.766G>T (p.Val256Phe)
NM_001099922.3(ALG13):c.805A>G (p.Met269Val)
NM_001099922.3(ALG13):c.812A>G (p.Glu271Gly)
NM_001099922.3(ALG13):c.818A>C (p.Gln273Pro)
NM_001099922.3(ALG13):c.834T>A (p.Ser278=)
NM_001099922.3(ALG13):c.84A>G (p.Lys28=)
NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)
NM_001099922.3(ALG13):c.858A>C (p.Lys286Asn)	rs1939806996
NM_001099922.3(ALG13):c.862C>G (p.Leu288Val)
NM_001099922.3(ALG13):c.869G>A (p.Arg290Gln)	rs1939809151
NM_001099922.3(ALG13):c.887A>G (p.Glu296Gly)	rs2148043587
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys)	rs372176416
NM_001099922.3(ALG13):c.89A>C (p.Glu30Ala)
NM_001099922.3(ALG13):c.923T>C (p.Leu308Pro)
NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)
NM_001099922.3(ALG13):c.933-3T>C
NM_001099922.3(ALG13):c.935G>T (p.Arg312Leu)	rs1455053208
NM_001099922.3(ALG13):c.942C>G (p.Phe314Leu)
NM_001099922.3(ALG13):c.950A>T (p.Tyr317Phe)
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys)	rs775191661
NM_001099922.3(ALG13):c.953G>A (p.Arg318His)
NM_001099922.3(ALG13):c.977A>G (p.Tyr326Cys)	rs1940090808
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr)	rs1946418638
NM_001382.4(DPAGT1):c.1005+5C>T
NM_001382.4(DPAGT1):c.1005+6A>T	rs1592225596
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala)	rs1555207196
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys)	rs1475939080
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val)	rs980077282
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser)	rs1210999092
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser)	rs2134897889
NM_001382.4(DPAGT1):c.1161+5G>A	rs1946410970
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu)	rs2134897349
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro)	rs2134897273
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn)	rs2134897091
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser)	rs1565766177
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr)	rs1274896616
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys)	rs781224323
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
NM_001382.4(DPAGT1):c.283-17G>A
NM_001382.4(DPAGT1):c.283-3C>A
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val)	rs1946489072
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val)	rs1946487222
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu)	rs2134913441
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile)	rs1946487020
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser)	rs373044813
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu)	rs1403883479
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met)	rs1555207796
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln)	rs1946485389
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val)	rs766131005
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser)	rs768464558
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val)	rs2134911057
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu)	rs1386440899
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser)	rs1221039307
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala)	rs2134903441
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe)	rs765676413
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
NM_001382.4(DPAGT1):c.750G>A (p.Val250=)	rs2134901634
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp)	rs780944148
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe)	rs1946426502
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser)	rs1393162163
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His)	rs771322037
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
NM_001382.4(DPAGT1):c.918-10C>A	rs764154648
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly)	rs1946419999
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val)	rs755527720
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro)	rs1555479551
NM_002435.3(MPI):c.1157C>T (p.Thr386Ile)	rs2141209748
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
NM_002435.3(MPI):c.124G>C (p.Glu42Gln)
NM_002435.3(MPI):c.140C>G (p.Ala47Gly)
NM_002435.3(MPI):c.170G>T (p.Gly57Val)
NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile)
NM_002435.3(MPI):c.194G>A (p.Arg65His)
NM_002435.3(MPI):c.238G>A (p.Asp80Asn)	rs1444877183
NM_002435.3(MPI):c.33T>G (p.Cys11Trp)	rs2064708840
NM_002435.3(MPI):c.362T>C (p.Leu121Pro)
NM_002435.3(MPI):c.455G>C (p.Arg152Pro)	rs766458792
NM_002435.3(MPI):c.45G>C (p.Gln15His)	rs371649838
NM_002435.3(MPI):c.527C>T (p.Ala176Val)	rs1256364766
NM_002435.3(MPI):c.530C>T (p.Thr177Ile)
NM_002435.3(MPI):c.533A>C (p.His178Pro)	rs2141200350
NM_002435.3(MPI):c.587G>A (p.Ser196Asn)
NM_002435.3(MPI):c.602T>C (p.Leu201Pro)	rs2064752971
NM_002435.3(MPI):c.661T>A (p.Ser221Thr)
NM_002435.3(MPI):c.670+3G>A
NM_002435.3(MPI):c.695A>G (p.Asp232Gly)	rs765912695
NM_002435.3(MPI):c.843_844+1del
NM_002435.3(MPI):c.845-9T>C
NM_002435.3(MPI):c.914T>A (p.Val305Glu)
NM_002435.3(MPI):c.920C>G (p.Thr307Ser)
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg)	rs1553121290
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu)	rs146477640
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val)	rs760318393
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser)	rs754131603
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu)	rs567337429
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn)	rs374207269
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr)	rs148979330
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
NM_002633.3(PGM1):c.1464+19G>C
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln)	rs377179134
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
NM_002633.3(PGM1):c.1599+5C>T
NM_002633.3(PGM1):c.1599+6G>A
NM_002633.3(PGM1):c.1599+6G>T
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile)	rs1650066188
NM_002633.3(PGM1):c.184G>C (p.Asp62His)	rs587777403
NM_002633.3(PGM1):c.199A>G (p.Met67Val)	rs561236041
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
NM_002633.3(PGM1):c.216G>C (p.Gln72His)	rs1280037054
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp)	rs199928376
NM_002633.3(PGM1):c.246+20_246+21delinsAA
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr)	rs1356647959
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
NM_002633.3(PGM1):c.409+6T>C	rs2100982034
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
NM_002633.3(PGM1):c.556+3A>G
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
NM_002633.3(PGM1):c.873+5G>T
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly)	rs2100947698
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys)	rs369939483
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys)	rs767978019
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg)	rs2123155224
NM_003859.3(DPM1):c.127A>G (p.Ile43Val)	rs769480044
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
NM_003859.3(DPM1):c.142G>A (p.Val48Met)	rs776470942
NM_003859.3(DPM1):c.162-3del	rs1568774485
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys)	rs1040795570
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe)	rs1040795570
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe)	rs1986768557
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly)	rs201392536
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln)	rs760351795
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly)	rs1364834319
NM_003859.3(DPM1):c.259A>G (p.Ile87Val)	rs1986763754
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly)	rs17850343
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
NM_003859.3(DPM1):c.295+6T>C
NM_003859.3(DPM1):c.296-5T>C	rs1986258168
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg)	rs755912457
NM_003859.3(DPM1):c.326C>T (p.Ala109Val)	rs1986256273
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn)	rs2123115865
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr)	rs2123115788
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys)	rs559291357
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser)	rs752831768
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys)	rs1225648834
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala)	rs77532041
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
NM_003859.3(DPM1):c.494+9A>G
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys)	rs547949792
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser)	rs1985671191
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp)	rs1601016907
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr)	rs528582693
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
NM_003859.3(DPM1):c.617G>T (p.Gly206Val)	rs760063295
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys)	rs1036628226
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr)	rs1439856985
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)	rs1197456861
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg)	rs2123061416
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn)	rs2123061350
NM_003859.3(DPM1):c.678+15C>G	rs2123061176
NM_003859.3(DPM1):c.678+1G>C	rs1985138848
NM_003859.3(DPM1):c.678+6C>A
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala)	rs1985042327
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser)	rs2123056867
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly)	rs1411036424
NM_003859.3(DPM1):c.706T>C (p.Tyr236His)	rs775589720
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg)	rs1986960670
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
NM_003863.4(DPM2):c.108_111del (p.Gln37fs)	rs756881158
NM_003863.4(DPM2):c.151G>A (p.Val51Ile)	rs1831509385
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe)	rs2131648142
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn)	rs1564141716
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro)	rs759597928
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys)	rs1588689182
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu)	rs1831494309
NM_003863.4(DPM2):c.3+3G>A	rs1403906360
NM_003863.4(DPM2):c.3+3G>T	rs1403906360
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp)	rs1224529806
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
NM_003863.4(DPM2):c.88C>G (p.Leu30Val)	rs886063483
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
NM_003863.4(DPM2):c.93+5G>A
NM_004870.4(MPDU1):c.170-1G>A
NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr)	rs137983973
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
NM_004870.4(MPDU1):c.477del (p.Ser160fs)	rs765585873
NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu)	rs2071599921
NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala)	rs2150936424
NM_004870.4(MPDU1):c.729G>C (p.Gln243His)	rs144333176
NM_005216.4(DDOST):c.206_211delACCGGG	rs769669810
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys)	rs140102515
NM_005216.4(DDOST):c.32C>T (p.Ser11Phe)	rs140102515
NM_005216.5(DDOST):c.-18T>G	rs1196325942
NM_005216.5(DDOST):c.-5G>A
NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del)	rs776647294
NM_005216.5(DDOST):c.1064-2A>C
NM_005216.5(DDOST):c.1151A>G (p.His384Arg)
NM_005216.5(DDOST):c.1177G>A (p.Val393Met)
NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)
NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)
NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)
NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)
NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)
NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)
NM_005216.5(DDOST):c.154+5G>A
NM_005216.5(DDOST):c.167A>G (p.Glu56Gly)	rs2154534449
NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)
NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)
NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)
NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)
NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)
NM_005216.5(DDOST):c.287T>C (p.Val96Ala)
NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)
NM_005216.5(DDOST):c.331G>A (p.Val111Ile)
NM_005216.5(DDOST):c.352+2T>C
NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)
NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)
NM_005216.5(DDOST):c.427C>G (p.His143Asp)	rs2154534284
NM_005216.5(DDOST):c.456+4A>G
NM_005216.5(DDOST):c.532A>G (p.Ile178Val)
NM_005216.5(DDOST):c.579G>A (p.Leu193=)
NM_005216.5(DDOST):c.583C>G (p.Leu195Val)
NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)
NM_005216.5(DDOST):c.632A>T (p.Lys211Met)
NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)
NM_005216.5(DDOST):c.656C>T (p.Ala219Val)
NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)
NM_005216.5(DDOST):c.68T>G (p.Val23Gly)
NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)
NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe)	rs2053339801
NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del)	rs751872569
NM_005216.5(DDOST):c.782C>T (p.Pro261Leu)	rs2154534235
NM_005216.5(DDOST):c.795-3C>G
NM_005216.5(DDOST):c.795G>A (p.Arg265=)
NM_005216.5(DDOST):c.826G>A (p.Val276Met)
NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)
NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)
NM_005216.5(DDOST):c.839G>A (p.Arg280His)
NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)
NM_005216.5(DDOST):c.846del (p.Phe283fs)
NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del)	rs1557571295
NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)
NM_005216.5(DDOST):c.869G>T (p.Arg290Leu)	rs367807479
NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)
NM_005216.5(DDOST):c.897G>A (p.Val299=)
NM_005216.5(DDOST):c.900C>T (p.Gly300=)
NM_005216.5(DDOST):c.908C>T (p.Ala303Val)
NM_005787.6(ALG3):c.1014C>A (p.Ile338=)
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)
NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)
NM_005787.6(ALG3):c.1188dup (p.Asn397fs)
NM_005787.6(ALG3):c.11G>T (p.Gly4Val)
NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp)	rs199587005
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)
NM_005787.6(ALG3):c.457G>A (p.Val153Ile)
NM_005787.6(ALG3):c.50C>T (p.Ala17Val)
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)
NM_005787.6(ALG3):c.550C>T (p.Leu184Phe)	rs1171334770
NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln)	rs2108440795
NM_005787.6(ALG3):c.763A>C (p.Ser255Arg)	rs1718985510
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys)	rs528154210
NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)
NM_005787.6(ALG3):c.812A>G (p.His271Arg)	rs2108440706
NM_005787.6(ALG3):c.82G>C (p.Ala28Pro)	rs750342592
NM_005787.6(ALG3):c.890A>G (p.His297Arg)
NM_005787.6(ALG3):c.929A>G (p.His310Arg)	rs2108440580
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu)	rs1956564188
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=)	rs147411055
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr)	rs753742915
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile)	rs779001204
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val)	rs911881776
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val)	rs753076012
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser)	rs532258057
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val)	rs2135913589
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln)	rs2135870876
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys)	rs2135914600
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
NM_012463.4(ATP6V0A2):c.197-16A>G
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
NM_012463.4(ATP6V0A2):c.2055+4A>C	rs2135917390
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=)	rs1451115150
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val)	rs1232267114
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala)	rs1319344210
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His)	rs143509747
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)	rs759593402
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
NM_012463.4(ATP6V0A2):c.731+6A>G
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu)	rs759906846
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile)	rs371533517
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
NM_013339.4(ALG6):c.100A>C (p.Met34Leu)	rs1557585842
NM_013339.4(ALG6):c.100A>G (p.Met34Val)
NM_013339.4(ALG6):c.1031A>G (p.His344Arg)
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)
NM_013339.4(ALG6):c.1051G>A (p.Val351Met)
NM_013339.4(ALG6):c.1058+6T>C	rs1644562441
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val)	rs1260829753
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr)	rs952006163
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)
NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe)	rs764449670
NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro)	rs1644630271
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)
NM_013339.4(ALG6):c.1127+4A>G	rs2100440455
NM_013339.4(ALG6):c.1128-3C>T
NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys)	rs1644631363
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del)	rs773295759
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile)	rs2100440869
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)
NM_013339.4(ALG6):c.130T>C (p.Trp44Arg)	rs2100404960
NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile)	rs1318387105
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser)	rs2100440907
NM_013339.4(ALG6):c.1326+2dup
NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser)	rs552078516
NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)
NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)
NM_013339.4(ALG6):c.1402G>C (p.Asp468His)	rs1644682187
NM_013339.4(ALG6):c.1414G>A (p.Val472Ile)	rs1644682228
NM_013339.4(ALG6):c.1414G>C (p.Val472Leu)	rs1644682228
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu)	rs747356051
NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr)	rs766169939
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly)	rs1644682851
NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)
NM_013339.4(ALG6):c.178A>C (p.Ser60Arg)	rs1330438032
NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)
NM_013339.4(ALG6):c.19A>G (p.Met7Val)
NM_013339.4(ALG6):c.20T>C (p.Met7Thr)
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu)	rs2100412827
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile)	rs773292757
NM_013339.4(ALG6):c.235_237del (p.His79del)	rs1297610094
NM_013339.4(ALG6):c.236A>T (p.His79Leu)
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)
NM_013339.4(ALG6):c.256G>A (p.Val86Met)
NM_013339.4(ALG6):c.258-3C>T
NM_013339.4(ALG6):c.272A>G (p.Asn91Ser)	rs2100415389
NM_013339.4(ALG6):c.278A>G (p.Asp93Gly)	rs1329673040
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)
NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)
NM_013339.4(ALG6):c.322C>G (p.His108Asp)	rs2100415489
NM_013339.4(ALG6):c.325A>G (p.Lys109Glu)	rs1644481094
NM_013339.4(ALG6):c.326A>T (p.Lys109Met)
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)
NM_013339.4(ALG6):c.346+19G>A
NM_013339.4(ALG6):c.346+5A>G
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe)	rs961740482
NM_013339.4(ALG6):c.410A>T (p.Glu137Val)
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)
NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)
NM_013339.4(ALG6):c.425A>T (p.Lys142Ile)	rs2100417063
NM_013339.4(ALG6):c.428A>C (p.Lys143Thr)	rs2100417066
NM_013339.4(ALG6):c.429G>A (p.Lys143=)	rs193223712
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)
NM_013339.4(ALG6):c.446G>C (p.Cys149Ser)	rs2100417551
NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)
NM_013339.4(ALG6):c.495A>G (p.Gln165=)	rs886046471
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)
NM_013339.4(ALG6):c.532G>A (p.Val178Ile)	rs2100420805
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)
NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)
NM_013339.4(ALG6):c.563T>A (p.Leu188Gln)	rs1446317739
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg)	rs1644514423
NM_013339.4(ALG6):c.604A>G (p.Met202Val)
NM_013339.4(ALG6):c.604A>T (p.Met202Leu)	rs757012140
NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)
NM_013339.4(ALG6):c.619G>T (p.Ala207Ser)	rs756038267
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)
NM_013339.4(ALG6):c.628T>G (p.Phe210Val)
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly)	rs1644514646
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)
NM_013339.4(ALG6):c.677A>T (p.Lys226Met)
NM_013339.4(ALG6):c.680+4A>G
NM_013339.4(ALG6):c.681-18C>G
NM_013339.4(ALG6):c.681-5T>G
NM_013339.4(ALG6):c.681-6T>G
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)
NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)
NM_013339.4(ALG6):c.712G>A (p.Val238Ile)
NM_013339.4(ALG6):c.714T>C (p.Val238=)
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)
NM_013339.4(ALG6):c.731T>A (p.Leu244His)
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)
NM_013339.4(ALG6):c.778C>G (p.Leu260Val)
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del)	rs886548508
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)
NM_013339.4(ALG6):c.816+4T>G
NM_013339.4(ALG6):c.823G>A (p.Val275Ile)
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)
NM_013339.4(ALG6):c.843C>T (p.Ser281=)
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)
NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)
NM_013339.4(ALG6):c.940A>G (p.Ile314Val)
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)
NM_013339.4(ALG6):c.987G>A (p.Leu329=)
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe)	rs1554826767
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly)	rs1276394817
NM_014908.4(DOLK):c.101T>C (p.Ile34Thr)	rs1554826863
NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr)
NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala)
NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu)
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr)	rs2131127590
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
NM_014908.4(DOLK):c.106G>A (p.Ala36Thr)	rs1841688809
NM_014908.4(DOLK):c.1082T>C (p.Val361Ala)
NM_014908.4(DOLK):c.1089C>A (p.Ala363=)
NM_014908.4(DOLK):c.1090_1099del (p.Thr364fs)	rs2131127481
NM_014908.4(DOLK):c.109A>C (p.Thr37Pro)
NM_014908.4(DOLK):c.1103C>T (p.Ala368Val)
NM_014908.4(DOLK):c.1126G>A (p.Val376Met)	rs1841662463
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys)	rs775869216
NM_014908.4(DOLK):c.113T>C (p.Val38Ala)
NM_014908.4(DOLK):c.118G>A (p.Asp40Asn)
NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly)
NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly)
NM_014908.4(DOLK):c.1224C>T (p.His408=)
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs)	rs1223257193
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met)	rs1841659405
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe)	rs2131127216
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln)	rs1841688531
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro)	rs1841659135
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp)	rs1554826737
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs)	rs1841658916
NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs)
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser)	rs1354312358
NM_014908.4(DOLK):c.1273C>T (p.Pro425Ser)	rs2131127164
NM_014908.4(DOLK):c.1275del (p.Cys426fs)	rs1401485925
NM_014908.4(DOLK):c.1278C>T (p.Cys426=)
NM_014908.4(DOLK):c.1282del (p.Gln428fs)
NM_014908.4(DOLK):c.1284G>C (p.Gln428His)	rs1458281229
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg)	rs140983401
NM_014908.4(DOLK):c.1300G>A (p.Gly434Arg)	rs2131127105
NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs)
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr)	rs1306365829
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
NM_014908.4(DOLK):c.1330G>A (p.Val444Ile)	rs2131127044
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs)	rs1287763056
NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)
NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser)
NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly)
NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)
NM_014908.4(DOLK):c.136G>A (p.Ala46Thr)	rs2131129267
NM_014908.4(DOLK):c.137C>T (p.Ala46Val)	rs1554826859
NM_014908.4(DOLK):c.1381A>G (p.Met461Val)	rs1199897936
NM_014908.4(DOLK):c.1383G>C (p.Met461Ile)	rs749027694
NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg)	rs750308538
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val)	rs1588261710
NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)
NM_014908.4(DOLK):c.1429A>G (p.Met477Val)	rs763666338
NM_014908.4(DOLK):c.143C>T (p.Ala48Val)	rs1293227197
NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)
NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe)	rs1180339847
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser)	rs1588261659
NM_014908.4(DOLK):c.148G>A (p.Ala50Thr)	rs2131129240
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala)	rs1354195997
NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp)	rs2131126776
NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val)	rs777422185
NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn)	rs1178866364
NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs)	rs2131126691
NM_014908.4(DOLK):c.156G>C (p.Gln52His)	rs1339562262
NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)
NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)
NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)
NM_014908.4(DOLK):c.1578_1580del (p.Leu528del)	rs1841648901
NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)
NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)
NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)
NM_014908.4(DOLK):c.191T>C (p.Leu64Pro)
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter)	rs876657785
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
NM_014908.4(DOLK):c.202A>T (p.Ser68Cys)	rs2131129139
NM_014908.4(DOLK):c.206C>T (p.Ala69Val)	rs1554826850
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu)	rs761385789
NM_014908.4(DOLK):c.22C>T (p.Pro8Ser)	rs565096448
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu)	rs2131129046
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser)	rs1841684950
NM_014908.4(DOLK):c.263T>C (p.Met88Thr)	rs1588262888
NM_014908.4(DOLK):c.26C>T (p.Ala9Val)
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
NM_014908.4(DOLK):c.302C>T (p.Thr101Ile)	rs1192393606
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser)	rs1841683982
NM_014908.4(DOLK):c.305C>G (p.Ala102Gly)
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr)	rs1454594732
NM_014908.4(DOLK):c.313C>T (p.Pro105Ser)
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp)	rs1841683382
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser)	rs755188614
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly)	rs755188614
NM_014908.4(DOLK):c.325C>T (p.Arg109Cys)	rs755188614
NM_014908.4(DOLK):c.330T>G (p.Phe110Leu)
NM_014908.4(DOLK):c.332G>A (p.Gly111Asp)
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr)	rs2131129450
NM_014908.4(DOLK):c.355A>G (p.Met119Val)	rs2131128868
NM_014908.4(DOLK):c.367C>T (p.Leu123Phe)
NM_014908.4(DOLK):c.376T>G (p.Ser126Ala)	rs1564546286
NM_014908.4(DOLK):c.400C>T (p.Arg134Cys)
NM_014908.4(DOLK):c.407T>C (p.Val136Ala)	rs1306944564
NM_014908.4(DOLK):c.409C>T (p.Pro137Ser)	rs2131128759
NM_014908.4(DOLK):c.433G>T (p.Gly145Cys)
NM_014908.4(DOLK):c.446G>A (p.Gly149Asp)
NM_014908.4(DOLK):c.460A>G (p.Ile154Val)	rs1841679811
NM_014908.4(DOLK):c.464T>C (p.Met155Thr)	rs2131128665
NM_014908.4(DOLK):c.470A>C (p.His157Pro)	rs145050630
NM_014908.4(DOLK):c.477G>C (p.Leu159Phe)
NM_014908.4(DOLK):c.481G>T (p.Val161Leu)	rs769800558
NM_014908.4(DOLK):c.490G>A (p.Val164Met)	rs767933821
NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del)
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp)	rs1841678421
NM_014908.4(DOLK):c.520T>C (p.Phe174Leu)
NM_014908.4(DOLK):c.521T>G (p.Phe174Cys)	rs2131128535
NM_014908.4(DOLK):c.559C>T (p.Arg187Cys)
NM_014908.4(DOLK):c.560G>A (p.Arg187His)	rs377658203
NM_014908.4(DOLK):c.565T>A (p.Phe189Ile)	rs2131128464
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg)	rs767965852
NM_014908.4(DOLK):c.591_592dup (p.Leu198fs)
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
NM_014908.4(DOLK):c.611T>C (p.Val204Ala)	rs1554826810
NM_014908.4(DOLK):c.620A>C (p.Gln207Pro)	rs2131128386
NM_014908.4(DOLK):c.64G>A (p.Ala22Thr)	rs2131129407
NM_014908.4(DOLK):c.656del (p.Gln219fs)	rs2131128315
NM_014908.4(DOLK):c.664C>T (p.Pro222Ser)
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del)	rs1841674220
NM_014908.4(DOLK):c.702G>A (p.Met234Ile)
NM_014908.4(DOLK):c.702G>C (p.Met234Ile)	rs746656818
NM_014908.4(DOLK):c.731dup (p.Phe245fs)	rs1588262474
NM_014908.4(DOLK):c.736G>C (p.Val246Leu)	rs1029841868
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser)	rs2131128090
NM_014908.4(DOLK):c.771C>G (p.Ile257Met)	rs147416890
NM_014908.4(DOLK):c.781C>A (p.Leu261Ile)
NM_014908.4(DOLK):c.787A>T (p.Thr263Ser)	rs2131128060
NM_014908.4(DOLK):c.800G>T (p.Ser267Ile)
NM_014908.4(DOLK):c.829C>T (p.Arg277Trp)	rs1253487442
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe)	rs1841670200
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del)	rs773789842
NM_014908.4(DOLK):c.889C>T (p.Arg297Cys)
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser)	rs1554826773
NM_014908.4(DOLK):c.941T>C (p.Val314Ala)
NM_014908.4(DOLK):c.956A>G (p.Asn319Ser)
NM_014908.4(DOLK):c.962A>G (p.Lys321Arg)	rs1841666950
NM_014908.4(DOLK):c.965G>A (p.Arg322Gln)
NM_014908.4(DOLK):c.968C>T (p.Ser323Leu)	rs2131127724
NM_014908.4(DOLK):c.96G>A (p.Leu32=)
NM_014908.4(DOLK):c.971C>T (p.Ser324Phe)
NM_014908.4(DOLK):c.977A>T (p.Glu326Val)	rs1841666209
NM_014908.4(DOLK):c.98G>T (p.Ser33Ile)
NM_014908.4(DOLK):c.993G>C (p.Gln331His)	rs1841665962
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup)	rs2142721988
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg)	rs2142722084
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp)	rs1596259672
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr)	rs2142725570
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly)	rs2142725608
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly)	rs1555452573
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)	rs1057520122
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser)	rs398124349
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala)	rs1394994402
NM_019109.5(ALG1):c.1193A>G (p.His398Arg)	rs1292094188
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro)	rs2142698518
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
NM_019109.5(ALG1):c.1257G>C (p.Gln419His)	rs2142728655
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr)	rs2142732373
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln)	rs758197753
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys)	rs540792178
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter)	rs1047747
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg)	rs144047909
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr)	rs1957097146
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg)	rs752179113
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
NM_019109.5(ALG1):c.160C>G (p.Leu54Val)	rs1956824877
NM_019109.5(ALG1):c.169G>A (p.Ala57Thr)
NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)
NM_019109.5(ALG1):c.173T>C (p.Met58Thr)
NM_019109.5(ALG1):c.176A>C (p.His59Pro)	rs773372110
NM_019109.5(ALG1):c.176A>G (p.His59Arg)	rs773372110
NM_019109.5(ALG1):c.191C>T (p.Thr64Ile)	rs145474820
NM_019109.5(ALG1):c.193C>T (p.Leu65Phe)
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
NM_019109.5(ALG1):c.200G>T (p.Gly67Val)	rs778626972
NM_019109.5(ALG1):c.208+19_208+20insTATG	rs756830715
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu)	rs1205327334
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
NM_019109.5(ALG1):c.25C>G (p.Leu9Val)
NM_019109.5(ALG1):c.283G>A (p.Ala95Thr)
NM_019109.5(ALG1):c.287-7C>G
NM_019109.5(ALG1):c.287T>A (p.Val96Asp)	rs534863399
NM_019109.5(ALG1):c.287T>G (p.Val96Gly)	rs534863399
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala)	rs1252818613
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu)	rs767455250
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg)	rs992880561
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)	rs1436106795
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe)	rs200094659
NM_019109.5(ALG1):c.390+3G>T
NM_019109.5(ALG1):c.390+5G>A
NM_019109.5(ALG1):c.390+6T>G	rs2142702237
NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser)	rs1956892771
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys)	rs2142707214
NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup)	rs1414667961
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe)	rs2142707280
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg)	rs1192356042
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup)	rs760240522
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp)	rs2142707365
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
NM_019109.5(ALG1):c.523G>T (p.Val175Phe)	rs762783729
NM_019109.5(ALG1):c.529C>G (p.Leu177Val)	rs200194917
NM_019109.5(ALG1):c.539+9C>G
NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
NM_019109.5(ALG1):c.568C>A (p.His190Asn)	rs771904667
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
NM_019109.5(ALG1):c.583G>T (p.Val195Phe)	rs2142712225
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys)	rs1956934637
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr)	rs1239003111
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
NM_019109.5(ALG1):c.717C>T (p.Ser239=)	rs1956945310
NM_019109.5(ALG1):c.73C>T (p.Arg25Cys)	rs1956823060
NM_019109.5(ALG1):c.740+6C>T
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup)	rs1331794136
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln)	rs1308969550
NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del)	rs1206167331
NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
NM_019109.5(ALG1):c.832G>A (p.Ala278Thr)	rs1364564952
NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)
NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
NM_019109.5(ALG1):c.863-11T>C
NM_019109.5(ALG1):c.863-3T>A
NM_019109.5(ALG1):c.863-3T>C	rs1208866677
NM_019109.5(ALG1):c.872A>G (p.Asp291Gly)	rs192564717
NM_019109.5(ALG1):c.872A>T (p.Asp291Val)	rs192564717
NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
NM_019109.5(ALG1):c.877_879del (p.Ser293del)	rs776453756
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys)	rs1421613066
NM_019109.5(ALG1):c.889G>T (p.Ala297Ser)	rs2142716887
NM_019109.5(ALG1):c.901+5G>T
NM_019109.5(ALG1):c.901A>C (p.Lys301Gln)	rs753600353
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu)	rs753600353
NM_019109.5(ALG1):c.931A>G (p.Asn311Asp)
NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
NM_019109.5(ALG1):c.950G>C (p.Cys317Ser)	rs373396169
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
NM_019109.5(ALG1):c.961+4C>G	rs2142718757
NM_019109.5(ALG1):c.964A>C (p.Lys322Gln)
NM_019109.5(ALG1):c.965A>T (p.Lys322Ile)	rs145851409
NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
NM_019109.5(ALG1):c.994C>G (p.Leu332Val)	rs1957007425
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met)	rs376704970
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp)	rs2136868764
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe)	rs2136868701
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu)	rs769413308
NM_024079.5(ALG8):c.143A>G (p.His48Arg)	rs1861126453
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg)	rs758549233
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
NM_024079.5(ALG8):c.478+6C>T
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
NM_024079.5(ALG8):c.517A>G (p.Met173Val)	rs146425128
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
NM_024079.5(ALG8):c.568T>G (p.Phe190Val)	rs1860461907
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
NM_024079.5(ALG8):c.674-20A>C
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr)	rs1860433537
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
NM_024079.5(ALG8):c.899-13A>T
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
NM_024079.5(ALG8):c.96-9T>G
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024079.5(ALG8):c.982G>A (p.Val328Ile)	rs2136891638
NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)
NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)
NM_024105.4(ALG12):c.1030G>A (p.Gly344Arg)	rs2147580583
NM_024105.4(ALG12):c.1033T>C (p.Ser345Pro)	rs2147580574
NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)
NM_024105.4(ALG12):c.1067C>T (p.Ala356Val)	rs866503885
NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)
NM_024105.4(ALG12):c.1127T>C (p.Met376Thr)
NM_024105.4(ALG12):c.1135C>G (p.Leu379Val)	rs887422058
NM_024105.4(ALG12):c.1141C>G (p.Gln381Glu)
NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser)
NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)
NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)
NM_024105.4(ALG12):c.1221A>G (p.Gln407=)
NM_024105.4(ALG12):c.1238+5G>T
NM_024105.4(ALG12):c.1258G>A (p.Val420Met)
NM_024105.4(ALG12):c.1263G>C (p.Gln421His)
NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)
NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)
NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)
NM_024105.4(ALG12):c.1302G>A (p.Met434Ile)	rs781494329
NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)
NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)
NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)
NM_024105.4(ALG12):c.133C>A (p.Leu45Met)	rs779888121
NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)
NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)
NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)
NM_024105.4(ALG12):c.1456del (p.Arg486fs)	rs768823564
NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)
NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe)	rs2060527495
NM_024105.4(ALG12):c.1466G>A (p.Ter489=)
NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)
NM_024105.4(ALG12):c.175G>C (p.Glu59Gln)
NM_024105.4(ALG12):c.193C>T (p.Pro65Ser)
NM_024105.4(ALG12):c.200C>T (p.Thr67Met)	rs121907931
NM_024105.4(ALG12):c.204C>G (p.Phe68Leu)	rs2060591785
NM_024105.4(ALG12):c.208G>A (p.Gly70Arg)	rs1208318216
NM_024105.4(ALG12):c.237C>A (p.Ser79Arg)
NM_024105.4(ALG12):c.270G>A (p.Met90Ile)
NM_024105.4(ALG12):c.28C>T (p.Arg10Trp)	rs148343441
NM_024105.4(ALG12):c.294A>G (p.Ile98Met)
NM_024105.4(ALG12):c.295+6G>A	rs368352058
NM_024105.4(ALG12):c.295+6G>C
NM_024105.4(ALG12):c.338C>T (p.Thr113Met)
NM_024105.4(ALG12):c.374T>C (p.Met125Thr)
NM_024105.4(ALG12):c.376G>A (p.Val126Met)
NM_024105.4(ALG12):c.387G>A (p.Met129Ile)
NM_024105.4(ALG12):c.390CTG[1] (p.Cys131del)
NM_024105.4(ALG12):c.395G>T (p.Trp132Leu)
NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser)
NM_024105.4(ALG12):c.468A>G (p.Val156=)	rs1221631800
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
NM_024105.4(ALG12):c.472C>G (p.Leu158Val)
NM_024105.4(ALG12):c.484G>A (p.Ala162Thr)
NM_024105.4(ALG12):c.529G>A (p.Ala177Thr)	rs1186957751
NM_024105.4(ALG12):c.533T>C (p.Phe178Ser)
NM_024105.4(ALG12):c.551G>C (p.Arg184Thr)	rs1358548843
NM_024105.4(ALG12):c.559C>A (p.Leu187Met)
NM_024105.4(ALG12):c.610G>A (p.Val204Ile)	rs779494077
NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
NM_024105.4(ALG12):c.718G>C (p.Gly240Arg)	rs2146606588
NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
NM_024105.4(ALG12):c.736A>C (p.Asn246His)
NM_024105.4(ALG12):c.740C>T (p.Thr247Ile)	rs1183282596
NM_024105.4(ALG12):c.746T>C (p.Leu249Pro)	rs2146606524
NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys)	rs143204935
NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
NM_024105.4(ALG12):c.768+4_768+5insA	rs2146606463
NM_024105.4(ALG12):c.800C>T (p.Ala267Val)	rs1287436259
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
NM_024105.4(ALG12):c.841C>A (p.Leu281Met)	rs775415771
NM_024105.4(ALG12):c.845G>A (p.Gly282Asp)	rs2147585166
NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)
NM_024105.4(ALG12):c.866A>G (p.His289Arg)
NM_024105.4(ALG12):c.868G>A (p.Ala290Thr)	rs2060551878
NM_024105.4(ALG12):c.875C>T (p.Thr292Met)
NM_024105.4(ALG12):c.898G>A (p.Ala300Thr)
NM_024105.4(ALG12):c.902T>C (p.Leu301Pro)	rs1265937339
NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)
NM_024105.4(ALG12):c.925G>A (p.Glu309Lys)	rs2147584963
NM_024105.4(ALG12):c.953C>T (p.Pro318Leu)	rs2147584901
NM_024105.4(ALG12):c.965T>A (p.Ile322Asn)
NM_024105.4(ALG12):c.96A>G (p.Lys32=)	rs2146614770
NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)
NM_024105.4(ALG12):c.995T>C (p.Leu332Pro)
NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val)	rs769919131
NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)
NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp)
NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys)	rs539407364
NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe)	rs1578206800
NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg)
NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu)
NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu)	rs1719787731
NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu)
NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp)
NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe)	rs1719953488
NM_024592.5(SRD5A3):c.697+1G>C	rs1719958144
NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu)
NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys)	rs1204016593
NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg)
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala)	rs1720062980
NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu)	rs769885824
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)	rs565935886
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
NM_024740.2(ALG9):c.1174-19T>G
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu)	rs929508101
NM_024740.2(ALG9):c.131+5G>A	rs567032424
NM_024740.2(ALG9):c.131+5G>T	rs567032424
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
NM_024740.2(ALG9):c.1324+6T>G
NM_024740.2(ALG9):c.1325-17A>G
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)	rs782023699
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter)	rs1555064204
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
NM_024740.2(ALG9):c.360T>C (p.His120=)
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
NM_024740.2(ALG9):c.59C>A (p.Thr20Lys)	rs1555158969
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn)	rs1964247669
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
NM_033087.4(ALG2):c.1014G>T (p.Gln338His)	rs2118998218
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr)	rs2118998170
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu)	rs1588618702
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs)	rs1554707637
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr)	rs1828724423
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala)	rs1340353164
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs)	rs2118997596
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter)	rs372356780
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
NM_033087.4(ALG2):c.132del (p.Cys45fs)
NM_033087.4(ALG2):c.145A>G (p.Ile49Val)	rs759980920
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter)	rs748281785
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg)	rs773062290
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys)	rs753517894
NM_033087.4(ALG2):c.17G>T (p.Gly6Val)	rs180849348
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu)	rs777441526
NM_033087.4(ALG2):c.182C>T (p.Ala61Val)	rs1588620643
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly)	rs551744220
NM_033087.4(ALG2):c.212C>T (p.Ala71Val)	rs551744220
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg)	rs745813432
NM_033087.4(ALG2):c.215G>T (p.Gly72Val)	rs770738799
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr)	rs375634924
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro)	rs1564222174
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup)	rs1050763044
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup)	rs759891618
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn)	rs769169852
NM_033087.4(ALG2):c.308del (p.Phe103fs)
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly)	rs747781559
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu)	rs2119008980
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg)	rs2119007195
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
NM_033087.4(ALG2):c.367G>A (p.Val123Met)	rs1828745406
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
NM_033087.4(ALG2):c.442_443del (p.Asp148fs)	rs1828743411
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr)	rs1350412580
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln)	rs757920586
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp)	rs1486842886
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala)	rs1588619067
NM_033087.4(ALG2):c.507G>A (p.Met169Ile)	rs779723777
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter)	rs1828741342
NM_033087.4(ALG2):c.519C>G (p.Ile173Met)	rs1372608210
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
NM_033087.4(ALG2):c.578A>G (p.His193Arg)	rs749336918
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser)	rs201271253
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer)	rs745635377
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile)	rs1828737709
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu)	rs866855594
NM_033087.4(ALG2):c.679C>A (p.Leu227Met)	rs1308983324
NM_033087.4(ALG2):c.679C>G (p.Leu227Val)	rs1308983324
NM_033087.4(ALG2):c.686T>A (p.Leu229His)	rs1828737491
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys)	rs777262456
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
NM_033087.4(ALG2):c.760T>G (p.Leu254Val)	rs62562374
NM_033087.4(ALG2):c.795C>G (p.Ile265Met)	rs183416022
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
NM_033087.4(ALG2):c.839A>G (p.His280Arg)	rs2118998777
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
NM_033087.4(ALG2):c.89_114del (p.Glu30fs)	rs775204090
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
NM_033087.4(ALG2):c.945C>T (p.Cys315=)	rs1828729293
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys)	rs1828728819
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys)	rs2118998416
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
NM_033087.4(ALG2):c.97G>A (p.Val33Met)	rs774607653
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys)
NM_052859.4(RFT1):c.1063C>G (p.Leu355Val)
NM_052859.4(RFT1):c.1071C>G (p.Ile357Met)
NM_052859.4(RFT1):c.1080G>T (p.Gly360=)	rs1189812930
NM_052859.4(RFT1):c.1085T>C (p.Met362Thr)	rs1701389862
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys)	rs764833139
NM_052859.4(RFT1):c.10C>A (p.Gln4Lys)	rs773959881
NM_052859.4(RFT1):c.1102+4C>A	rs150695725
NM_052859.4(RFT1):c.1102+4C>T	rs150695725
NM_052859.4(RFT1):c.1124A>G (p.Tyr375Cys)	rs1701249101
NM_052859.4(RFT1):c.1135G>A (p.Val379Ile)	rs1364345554
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052859.4(RFT1):c.1156G>C (p.Gly386Arg)	rs2107095147
NM_052859.4(RFT1):c.1163C>T (p.Thr388Ile)
NM_052859.4(RFT1):c.1175C>T (p.Thr392Ile)
NM_052859.4(RFT1):c.1186A>G (p.Met396Val)	rs1701245763
NM_052859.4(RFT1):c.1195G>T (p.Glu399Ter)	rs2107094933
NM_052859.4(RFT1):c.1198del (p.Glu400fs)	rs748350251
NM_052859.4(RFT1):c.1208+3G>A
NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)
NM_052859.4(RFT1):c.1231del (p.Leu411fs)	rs771934344
NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del)
NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)
NM_052859.4(RFT1):c.1271G>A (p.Arg424His)
NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)
NM_052859.4(RFT1):c.1294A>G (p.Ile432Val)
NM_052859.4(RFT1):c.1316T>C (p.Met439Thr)	rs749046487
NM_052859.4(RFT1):c.131T>C (p.Val44Ala)	rs2107173212
NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)
NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)
NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)
NM_052859.4(RFT1):c.1399dup (p.Leu467fs)	rs2107071266
NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe)
NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)
NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr)
NM_052859.4(RFT1):c.1446dup (p.Ala483fs)
NM_052859.4(RFT1):c.1455G>A (p.Ser485=)	rs767866491
NM_052859.4(RFT1):c.145G>A (p.Val49Ile)
NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser)	rs756497073
NM_052859.4(RFT1):c.148A>T (p.Arg50Ter)	rs2107173109
NM_052859.4(RFT1):c.150-1G>C
NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)
NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr)	rs1701003868
NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)
NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser)	rs1306859696
NM_052859.4(RFT1):c.154A>C (p.Thr52Pro)	rs1702035840
NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)
NM_052859.4(RFT1):c.155C>A (p.Thr52Lys)	rs764531159
NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp)	rs369800703
NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)
NM_052859.4(RFT1):c.1595G>T (p.Gly532Val)	rs1701001018
NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)
NM_052859.4(RFT1):c.173C>A (p.Thr58Asn)
NM_052859.4(RFT1):c.173C>T (p.Thr58Ile)
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile)	rs1702032211
NM_052859.4(RFT1):c.230G>A (p.Arg77Gln)
NM_052859.4(RFT1):c.240C>G (p.Ser80Arg)	rs2107168045
NM_052859.4(RFT1):c.266+1G>A	rs371764423
NM_052859.4(RFT1):c.272C>T (p.Pro91Leu)
NM_052859.4(RFT1):c.275del (p.Leu92fs)
NM_052859.4(RFT1):c.292T>A (p.Leu98Ile)
NM_052859.4(RFT1):c.335A>C (p.Asp112Ala)
NM_052859.4(RFT1):c.342TGT[1] (p.Val116del)	rs779809846
NM_052859.4(RFT1):c.343G>A (p.Val115Ile)
NM_052859.4(RFT1):c.34C>G (p.Arg12Gly)
NM_052859.4(RFT1):c.34C>T (p.Arg12Trp)
NM_052859.4(RFT1):c.368T>C (p.Val123Ala)
NM_052859.4(RFT1):c.374T>C (p.Leu125Pro)
NM_052859.4(RFT1):c.3G>A (p.Met1Ile)	rs2107183535
NM_052859.4(RFT1):c.421G>T (p.Val141Phe)	rs2107164186
NM_052859.4(RFT1):c.451_456dup (p.Leu151_Lys152dup)	rs750344787
NM_052859.4(RFT1):c.456+3C>G	rs1296088581
NM_052859.4(RFT1):c.456G>C (p.Lys152Asn)
NM_052859.4(RFT1):c.463G>A (p.Ala155Thr)
NM_052859.4(RFT1):c.490A>G (p.Ser164Gly)	rs2107162275
NM_052859.4(RFT1):c.49G>A (p.Gly17Ser)
NM_052859.4(RFT1):c.49G>C (p.Gly17Arg)
NM_052859.4(RFT1):c.4G>C (p.Gly2Arg)
NM_052859.4(RFT1):c.511G>C (p.Val171Leu)
NM_052859.4(RFT1):c.519G>A (p.Trp173Ter)	rs759320646
NM_052859.4(RFT1):c.519G>C (p.Trp173Cys)
NM_052859.4(RFT1):c.558G>T (p.Gln186His)
NM_052859.4(RFT1):c.559-13dup	rs1277722803
NM_052859.4(RFT1):c.566A>G (p.Tyr189Cys)
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro)	rs1575509225
NM_052859.4(RFT1):c.56T>G (p.Leu19Arg)
NM_052859.4(RFT1):c.614T>G (p.Leu205Arg)	rs1357940149
NM_052859.4(RFT1):c.620C>G (p.Ser207Cys)
NM_052859.4(RFT1):c.623C>T (p.Pro208Leu)	rs2107157423
NM_052859.4(RFT1):c.63+3A>G
NM_052859.4(RFT1):c.63+4C>G	rs2107183082
NM_052859.4(RFT1):c.631A>G (p.Thr211Ala)
NM_052859.4(RFT1):c.634A>G (p.Lys212Glu)
NM_052859.4(RFT1):c.64-3T>C
NM_052859.4(RFT1):c.646C>T (p.Leu216Phe)
NM_052859.4(RFT1):c.649C>T (p.Pro217Ser)	rs2107157216
NM_052859.4(RFT1):c.658A>G (p.Arg220Gly)
NM_052859.4(RFT1):c.662del (p.Ile221fs)	rs2107157163
NM_052859.4(RFT1):c.673T>A (p.Leu225Ile)
NM_052859.4(RFT1):c.696+5_696+8del	rs759775801
NM_052859.4(RFT1):c.710G>A (p.Trp237Ter)	rs1408405816
NM_052859.4(RFT1):c.730T>A (p.Trp244Arg)
NM_052859.4(RFT1):c.743_746del (p.Lys248fs)	rs773274468
NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)
NM_052859.4(RFT1):c.74G>T (p.Arg25Leu)	rs780107020
NM_052859.4(RFT1):c.760C>T (p.Gln254Ter)	rs185019792
NM_052859.4(RFT1):c.775+3A>G
NM_052859.4(RFT1):c.7A>G (p.Ser3Gly)	rs1201237484
NM_052859.4(RFT1):c.840A>G (p.Ile280Met)
NM_052859.4(RFT1):c.886A>G (p.Ile296Val)
NM_052859.4(RFT1):c.904A>G (p.Ile302Val)
NM_052859.4(RFT1):c.905del (p.Ile302fs)	rs2107115317
NM_052859.4(RFT1):c.946C>T (p.Leu316Phe)	rs2107115119
NM_052859.4(RFT1):c.957+1G>A
NM_052859.4(RFT1):c.973G>A (p.Ala325Thr)
NM_052859.4(RFT1):c.979G>A (p.Ala327Thr)	rs745493847
NM_052859.4(RFT1):c.988G>C (p.Glu330Gln)	rs2107109292
NM_052859.4(RFT1):c.997C>T (p.Leu333Phe)
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp)	rs914678907
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr)	rs1327892878
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser)	rs764639190
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
NM_138459.5(NUS1):c.197G>A (p.Arg66His)
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys)	rs1562172820
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr)	rs1460197813
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
NM_138459.5(NUS1):c.299A>C (p.His100Pro)
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
NM_138459.5(NUS1):c.301A>G (p.Met101Val)
NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
NM_138459.5(NUS1):c.346G>C (p.Asp116His)
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu)	rs2114674826
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg)	rs2114674884
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
NM_138459.5(NUS1):c.416G>A (p.Gly139Asp)	rs2114686687
NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
NM_138459.5(NUS1):c.420T>G (p.Ile140Met)	rs1263100166
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)
NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn)	rs1392457084
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)
NM_138459.5(NUS1):c.523A>G (p.Asn175Asp)	rs28362518
NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr)	rs28362518
NM_138459.5(NUS1):c.524A>G (p.Asn175Ser)	rs1438675724
NM_138459.5(NUS1):c.52C>G (p.Leu18Val)	rs1772962465
NM_138459.5(NUS1):c.540A>G (p.Gln180=)
NM_138459.5(NUS1):c.541+5G>T
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser)	rs2114687377
NM_138459.5(NUS1):c.554A>T (p.His185Leu)
NM_138459.5(NUS1):c.56A>T (p.His19Leu)
NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
NM_138459.5(NUS1):c.57C>G (p.His19Gln)
NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala)	rs765038821
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)
NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)
NM_138459.5(NUS1):c.601G>T (p.Val201Leu)
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu)	rs2114687441
NM_138459.5(NUS1):c.627G>T (p.Gln209His)
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
NM_138459.5(NUS1):c.650G>T (p.Arg217Ile)	rs375663235
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly)	rs2114687510
NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)
NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp)	rs779757878
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly)	rs2114693915
NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)
NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)
NM_138459.5(NUS1):c.791+6T>C
NM_138459.5(NUS1):c.792-3C>G
NM_138459.5(NUS1):c.7G>A (p.Gly3Arg)	rs1772960680
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr)	rs1554202852
NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)
NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
NM_138459.5(NUS1):c.869G>A (p.Arg290His)	rs886037858
NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp)	rs2114696027
NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)
NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)
NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser)	rs1055439022
NM_153741.2(DPM3):c.184G>C (p.Ala62Pro)	rs2102491677
NM_153741.2(DPM3):c.185C>T (p.Ala62Val)	rs1553190791
NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
NM_153741.2(DPM3):c.19T>C (p.Trp7Arg)	rs1664705696
NM_153741.2(DPM3):c.215G>A (p.Arg72His)
NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp)	rs752119871
NM_153741.2(DPM3):c.28G>C (p.Gly10Arg)	rs367584459
NM_153741.2(DPM3):c.29G>A (p.Gly10Glu)	rs2102491894
NM_153741.2(DPM3):c.44G>T (p.Gly15Val)	rs372215837
NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser)	rs959102245
NM_178862.3(STT3B):c.1014G>T (p.Gln338His)
NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu)
NM_178862.3(STT3B):c.1102G>T (p.Val368Phe)
NM_178862.3(STT3B):c.11C>T (p.Pro4Leu)	rs1250170448
NM_178862.3(STT3B):c.1263T>G (p.Leu421=)
NM_178862.3(STT3B):c.13T>C (p.Ser5Pro)
NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)
NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)
NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)
NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly)	rs755361919
NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln)	rs949533229
NM_178862.3(STT3B):c.2349C>A (p.His783Gln)
NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)
NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr)	rs2125430351
NM_178862.3(STT3B):c.32A>G (p.His11Arg)
NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)
NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)
NM_178862.3(STT3B):c.496A>G (p.Ile166Val)
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)
NM_178862.3(STT3B):c.778-3T>C
NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)
NM_178862.3(STT3B):c.887C>G (p.Thr296Ser)	rs375479861
NM_178862.3(STT3B):c.976+5G>T
NM_201400.4(EEF2KMT):c.*885G>A	rs780078713

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