ClinVar Miner

List of variants reported as likely benign for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3452
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HGVS dbSNP gnomAD frequency
NM_024740.2(ALG9):c.132-12dup rs1555157381 0.46207
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_002633.3(PGM1):c.*198C>T rs10909 0.18377
NM_002633.3(PGM1):c.*93A>C rs4643 0.17191
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_001004127.3(ALG11):c.44+324T>C rs77505745 0.04331
NM_001004127.3(ALG11):c.44+154G>A rs111871296 0.04085
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_000303.3(PMM2):c.*1360C>T rs72766381 0.03294
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_002633.3(PGM1):c.*37G>A rs61765314 0.02669
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_024592.5(SRD5A3):c.*275G>T rs145768388 0.02343
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_024740.2(ALG9):c.*1220C>T rs114406340 0.01795
NM_000303.3(PMM2):c.*534G>A rs2447929 0.01770
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_002633.3(PGM1):c.*406T>C rs11557104 0.01321
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_003863.3(DPM2):c.-382C>T rs112813338 0.01257
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_013339.4(ALG6):c.*268C>T rs114111123 0.01221
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_013339.4(ALG6):c.-121T>G rs116034504 0.00994
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_000303.3(PMM2):c.*17G>A rs9936097 0.00905
NM_052859.4(RFT1):c.*799T>A rs148552528 0.00885
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781 0.00874
NM_001382.4(DPAGT1):c.918-18G>A rs145206990 0.00859
NM_024592.5(SRD5A3):c.*2984A>G rs73816266 0.00855
NM_013339.4(ALG6):c.*1415T>G rs148327539 0.00827
NM_013339.4(ALG6):c.*1434T>C rs141443584 0.00822
NM_024740.2(ALG9):c.*3750A>C rs114397288 0.00792
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_178862.3(STT3B):c.1764C>T (p.Tyr588=) rs34176522 0.00770
NM_024079.5(ALG8):c.175-18C>A rs73501260 0.00743
NM_003859.3(DPM1):c.84G>C (p.Ser28=) rs16995639 0.00708
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_001099922.3(ALG13):c.1152G>A (p.Ala384=) rs145353928 0.00643
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922 0.00615
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_004341.5(CAD):c.5058C>T (p.Asp1686=) rs61757649 0.00528
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000303.3(PMM2):c.*915T>A rs114954775 0.00441
NM_013339.4(ALG6):c.*1136C>T rs143324400 0.00429
NM_013339.4(ALG6):c.*961C>T rs144020923 0.00415
NM_021645.6(UTP14C):c.-42G>A rs140978619 0.00414
NM_001099922.3(ALG13):c.3039A>G (p.Val1013=) rs183032531 0.00394
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665 0.00377
NM_019109.5(ALG1):c.539+16G>A rs189715949 0.00311
NM_001099922.3(ALG13):c.2799T>A (p.Pro933=) rs13440710 0.00296
NM_033087.4(ALG2):c.349-17A>G rs193069827 0.00275
NM_019109.5(ALG1):c.867C>T (p.Asp289=) rs144029725 0.00265
NM_024740.2(ALG9):c.132-16T>G rs781960988 0.00248
NM_019109.4(ALG1):c.191C>A (p.Thr64Asn) rs145474820 0.00246
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760 0.00238
NM_024740.2(ALG9):c.815A>G (p.Tyr272Cys) rs145762575 0.00235
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys) rs147742866 0.00227
NM_024740.2(ALG9):c.*2743T>C rs139048490 0.00222
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe) rs140127085 0.00219
NM_052859.4(RFT1):c.1118G>A (p.Arg373His) rs77976718 0.00211
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp) rs185366134 0.00187
NM_024740.2(ALG9):c.1538C>T (p.Pro513Leu) rs185149177 0.00186
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile) rs145940009 0.00165
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_001004127.3(ALG11):c.44+20G>T rs200503510 0.00153
NM_052859.4(RFT1):c.1400T>G (p.Leu467Arg) rs144042263 0.00140
NM_004341.5(CAD):c.83-3C>T rs151119882 0.00138
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_024740.2(ALG9):c.1792T>C (p.Tyr598His) rs201194863 0.00128
NM_003863.4(DPM2):c.64A>G (p.Thr22Ala) rs7042788 0.00120
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly) rs145245774 0.00119
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_138459.5(NUS1):c.506C>G (p.Pro169Arg) rs150646335 0.00116
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696 0.00114
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_052859.4(RFT1):c.303C>G (p.Gly101=) rs148576979 0.00108
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_001099922.3(ALG13):c.150C>T (p.Pro50=) rs147897682 0.00102
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00102
NM_024592.5(SRD5A3):c.566A>C (p.Tyr189Ser) rs35496669 0.00101
NM_005216.5(DDOST):c.711C>T (p.Arg237=) rs34189097 0.00099
NM_019109.5(ALG1):c.8C>A (p.Ala3Asp) rs559805054 0.00096
NM_024592.5(SRD5A3):c.*621C>T rs548604752 0.00096
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_019109.5(ALG1):c.21C>T (p.Val7=) rs149388535 0.00093
NM_019109.5(ALG1):c.787C>T (p.Arg263Trp) rs145317306 0.00091
NM_024740.2(ALG9):c.*971C>T rs140187723 0.00090
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923 0.00087
NM_001099922.3(ALG13):c.1591T>C (p.Leu531=) rs112837367 0.00085
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794 0.00083
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) rs146967928 0.00078
NM_021645.6(UTP14C):c.-486-6T>C rs200751186 0.00078
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00074
NM_001382.4(DPAGT1):c.918-4G>A rs201656540 0.00073
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00071
NM_024740.2(ALG9):c.1762G>T (p.Val588Phe) rs150225347 0.00071
NM_024592.5(SRD5A3):c.672C>T (p.Leu224=) rs144834899 0.00070
NM_002633.3(PGM1):c.247-5696A>T rs200881174 0.00069
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_005216.5(DDOST):c.148C>T (p.Leu50=) rs143421115 0.00066
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_138459.5(NUS1):c.63G>T (p.Thr21=) rs550854234 0.00065
NM_033087.4(ALG2):c.348+6G>A rs368075764 0.00063
NM_024740.2(ALG9):c.945T>C (p.Asn315=) rs185555263 0.00062
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118 0.00061
NM_024079.5(ALG8):c.682A>G (p.Ile228Val) rs150736564 0.00061
NM_024105.4(ALG12):c.665G>C (p.Gly222Ala) rs149209714 0.00061
NM_001099922.3(ALG13):c.1843C>T (p.Leu615=) rs374231091 0.00060
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile) rs146395561 0.00058
NM_052859.4(RFT1):c.47C>G (p.Ser16Cys) rs148716754 0.00058
NM_005787.6(ALG3):c.222C>T (p.Tyr74=) rs200875721 0.00056
NM_019109.5(ALG1):c.888G>A (p.Leu296=) rs577972473 0.00056
NM_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00055
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_024740.2(ALG9):c.405+7G>A rs372345664 0.00053
NM_019109.5(ALG1):c.991C>T (p.Arg331Cys) rs148933850 0.00052
NM_024079.5(ALG8):c.869A>G (p.Asn290Ser) rs61995923 0.00050
NM_052859.4(RFT1):c.457-10_457-9del rs778675860 0.00049
NM_001099922.3(ALG13):c.1327-19A>G rs375412069 0.00048
NM_033087.4(ALG2):c.216G>T (p.Gly72=) rs531748488 0.00048
NM_052859.4(RFT1):c.520T>C (p.Leu174=) rs149266076 0.00048
NM_001099922.3(ALG13):c.3399A>G (p.Val1133=) rs372982045 0.00047
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_002435.3(MPI):c.670+11T>C rs144118442 0.00046
NM_019109.5(ALG1):c.391-15C>G rs374836725 0.00046
NM_024740.2(ALG9):c.537C>T (p.Leu179=) rs199614437 0.00046
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00045
NM_014908.4(DOLK):c.525T>G (p.Val175=) rs200278288 0.00045
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_024105.4(ALG12):c.867C>T (p.His289=) rs147801200 0.00045
NM_013339.4(ALG6):c.1452C>T (p.Phe484=) rs150298974 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_001099922.3(ALG13):c.638G>A (p.Ser213Asn) rs374748006 0.00040
NM_001099922.3(ALG13):c.2248-15G>C rs139711892 0.00039
NM_005787.6(ALG3):c.16C>A (p.Arg6=) rs199587005 0.00039
NM_002633.3(PGM1):c.1290C>T (p.Tyr430=) rs140357031 0.00038
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_001099922.3(ALG13):c.1729+14A>G rs763484848 0.00036
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_019109.5(ALG1):c.1089T>G (p.Gly363=) rs146526768 0.00036
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_001099922.3(ALG13):c.371A>G (p.Tyr124Cys) rs145518377 0.00035
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099 0.00034
NM_005216.5(DDOST):c.384C>T (p.Cys128=) rs148134377 0.00034
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327 0.00034
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901 0.00034
NM_033087.4(ALG2):c.167C>T (p.Pro56Leu) rs201959100 0.00033
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766 0.00032
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys) rs201392536 0.00029
NM_004870.4(MPDU1):c.537C>T (p.Asn179=) rs149675859 0.00029
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665 0.00028
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_002435.3(MPI):c.819C>T (p.Asn273=) rs576592379 0.00027
NM_002435.3(MPI):c.1050G>A (p.Thr350=) rs145431554 0.00026
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 0.00026
NM_014908.4(DOLK):c.1512T>C (p.Ala504=) rs183735415 0.00026
NM_019109.5(ALG1):c.694C>T (p.Arg232Trp) rs148301670 0.00026
NM_002435.3(MPI):c.671-4T>G rs199719453 0.00025
NM_005216.5(DDOST):c.352+9G>A rs367895981 0.00025
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_002435.3(MPI):c.908T>C (p.Ile303Thr) rs139866632 0.00024
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_013339.4(ALG6):c.963T>A (p.Ser321=) rs141511876 0.00024
NM_024105.4(ALG12):c.1068C>T (p.Ala356=) rs371321442 0.00024
NM_024105.4(ALG12):c.470-11C>T rs375328311 0.00024
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427 0.00023
NM_002633.3(PGM1):c.735G>A (p.Ala245=) rs146028700 0.00023
NM_019109.5(ALG1):c.540-13T>C rs201477967 0.00023
NM_138459.5(NUS1):c.578C>T (p.Pro193Leu) rs146009370 0.00023
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_138459.5(NUS1):c.69C>G (p.Thr23=) rs568916715 0.00022
NM_001099922.3(ALG13):c.2933-14A>G rs755886617 0.00021
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069 0.00021
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_003859.3(DPM1):c.357T>C (p.Ala119=) rs371895653 0.00021
NM_005216.5(DDOST):c.894G>C (p.Arg298=) rs145327708 0.00021
NM_024079.5(ALG8):c.175-13A>G rs186117363 0.00021
NM_024105.4(ALG12):c.966C>T (p.Ile322=) rs573103699 0.00021
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936 0.00021
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_014908.4(DOLK):c.159C>G (p.Ala53=) rs199857223 0.00020
NM_019109.5(ALG1):c.480C>T (p.Gly160=) rs140674382 0.00020
NM_052859.4(RFT1):c.266C>T (p.Thr89Ile) rs199788972 0.00020
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_001004127.3(ALG11):c.1452A>G (p.Leu484=) rs188332164 0.00019
NM_012463.4(ATP6V0A2):c.1039-13G>T rs375793162 0.00019
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419 0.00019
NM_024592.5(SRD5A3):c.698-8C>T rs369712923 0.00019
NM_005216.4(DDOST):c.16T>G (p.Cys6Gly) rs149951380 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_002633.3(PGM1):c.1137C>T (p.Phe379=) rs367648776 0.00016
NM_002633.3(PGM1):c.1515C>T (p.Ser505=) rs61760978 0.00016
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00016
NM_019109.5(ALG1):c.361A>C (p.Arg121=) rs149695050 0.00016
NM_019109.5(ALG1):c.477T>C (p.Tyr159=) rs145487895 0.00016
NM_052859.4(RFT1):c.149+16C>T rs201161797 0.00016
NM_178862.3(STT3B):c.657C>T (p.Ser219=) rs145698887 0.00016
NM_001099922.3(ALG13):c.2654T>C (p.Ile885Thr) rs781459134 0.00015
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806 0.00015
NM_024740.2(ALG9):c.1356A>G (p.Glu452=) rs200460892 0.00015
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_001099922.3(ALG13):c.13T>C (p.Phe5Leu) rs199754211 0.00014
NM_001099922.3(ALG13):c.2070T>C (p.Asp690=) rs371239344 0.00014
NM_001099922.3(ALG13):c.2802T>A (p.Pro934=) rs865879266 0.00014
NM_001382.4(DPAGT1):c.728+9G>A rs369353136 0.00014
NM_002435.3(MPI):c.977C>G (p.Pro326Arg) rs199956743 0.00014
NM_003859.3(DPM1):c.759A>G (p.Leu253=) rs769964944 0.00014
NM_005216.5(DDOST):c.1221G>A (p.Ser407=) rs142441124 0.00014
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358 0.00014
NM_178862.3(STT3B):c.895A>G (p.Ile299Val) rs141238380 0.00014
NM_001099922.3(ALG13):c.1747A>G (p.Ile583Val) rs377397506 0.00013
NM_001099922.3(ALG13):c.1955G>A (p.Gly652Asp) rs372209528 0.00013
NM_003859.3(DPM1):c.564-20A>G rs201186989 0.00013
NM_003859.3(DPM1):c.679-8T>A rs764913742 0.00013
NM_012463.4(ATP6V0A2):c.117+19A>T rs746099453 0.00013
NM_013339.4(ALG6):c.903-13A>G rs190744579 0.00013
NM_014908.4(DOLK):c.633C>T (p.Arg211=) rs147647278 0.00013
NM_014908.4(DOLK):c.975C>T (p.Ser325=) rs149462670 0.00013
NM_019109.5(ALG1):c.1281T>C (p.Phe427=) rs538385814 0.00013
NM_024079.5(ALG8):c.459C>T (p.Phe153=) rs144501219 0.00013
NM_024079.5(ALG8):c.898+8A>G rs190448293 0.00013
NM_024105.4(ALG12):c.240C>T (p.Pro80=) rs773878720 0.00013
NM_024592.5(SRD5A3):c.365-15C>T rs369112025 0.00013
NM_024740.2(ALG9):c.1314A>G (p.Ala438=) rs201611208 0.00013
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001099922.3(ALG13):c.417T>C (p.Ile139=) rs748326545 0.00012
NM_014908.4(DOLK):c.1446G>A (p.Ala482=) rs201027607 0.00012
NM_024105.4(ALG12):c.1428A>G (p.Thr476=) rs191342997 0.00012
NM_052859.4(RFT1):c.1332G>A (p.Thr444=) rs139487607 0.00012
NM_001099922.3(ALG13):c.2787A>G (p.Pro929=) rs772431643 0.00011
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_013339.4(ALG6):c.1032T>C (p.His344=) rs146265933 0.00011
NM_019109.5(ALG1):c.384T>C (p.Phe128=) rs140626461 0.00011
NM_019109.5(ALG1):c.802G>A (p.Gly268Arg) rs148611855 0.00011
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024105.4(ALG12):c.665-15A>G rs373506247 0.00011
NM_052859.4(RFT1):c.1102+15T>A rs779365531 0.00011
NM_052859.4(RFT1):c.1401A>G (p.Leu467=) rs138028490 0.00011
NM_052859.4(RFT1):c.579G>T (p.Leu193=) rs141793370 0.00011
NM_052859.4(RFT1):c.978T>C (p.Ala326=) rs372101755 0.00011
NM_138459.5(NUS1):c.318C>T (p.Thr106=) rs573584810 0.00011
NM_001004127.3(ALG11):c.874T>C (p.Leu292=) rs533408732 0.00010
NM_001099922.3(ALG13):c.1922A>G (p.His641Arg) rs766772102 0.00010
NM_001099922.3(ALG13):c.255C>T (p.Ser85=) rs771286138 0.00010
NM_001099922.3(ALG13):c.3379C>T (p.Pro1127Ser) rs372841179 0.00010
NM_001099922.3(ALG13):c.79C>G (p.Gln27Glu) rs1404395085 0.00010
NM_002633.3(PGM1):c.1101C>T (p.Asp367=) rs375432694 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_002633.3(PGM1):c.294T>A (p.Ala98=) rs777459281 0.00010
NM_002633.3(PGM1):c.963G>A (p.Pro321=) rs373693932 0.00010
NM_005787.6(ALG3):c.1176C>T (p.Ile392=) rs377091766 0.00010
NM_012463.4(ATP6V0A2):c.1935+8A>G rs377650732 0.00010
NM_019109.4(ALG1):c.36T>C (p.Cys12=) rs369180139 0.00010
NM_019109.5(ALG1):c.540-12C>G rs200506548 0.00010
NM_019109.5(ALG1):c.863-15A>G rs371947976 0.00010
NM_024105.4(ALG12):c.132C>T (p.Asp44=) rs140846449 0.00010
NM_024105.4(ALG12):c.969G>A (p.Thr323=) rs751353681 0.00010
NM_024740.2(ALG9):c.789+11T>G rs371939356 0.00010
NM_033087.4(ALG2):c.813C>T (p.Asp271=) rs551873509 0.00010
NM_033087.4(ALG2):c.948G>A (p.Thr316=) rs375746453 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_001099922.3(ALG13):c.1834C>T (p.Pro612Ser) rs200516126 0.00009
NM_001099922.3(ALG13):c.544T>A (p.Cys182Ser) rs778876158 0.00009
NM_005216.5(DDOST):c.645+9T>C rs374229790 0.00009
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_012463.4(ATP6V0A2):c.1524C>T (p.Val508=) rs182439983 0.00009
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) rs373155729 0.00009
NM_012463.4(ATP6V0A2):c.197-4A>G rs541441279 0.00009
NM_014908.4(DOLK):c.192A>G (p.Leu64=) rs563156233 0.00009
NM_024079.5(ALG8):c.1178+7A>G rs766278533 0.00009
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046 0.00009
NM_033087.4(ALG2):c.1038G>A (p.Ser346=) rs200138333 0.00009
NM_052859.4(RFT1):c.165C>T (p.Tyr55=) rs149529625 0.00009
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_000303.3(PMM2):c.513G>A (p.Thr171=) rs371399381 0.00008
NM_001099922.3(ALG13):c.2933-15G>T rs372767806 0.00008
NM_001099922.3(ALG13):c.621A>T (p.Gly207=) rs371428241 0.00008
NM_001099922.3(ALG13):c.975T>G (p.Thr325=) rs767735916 0.00008
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=) rs377263230 0.00008
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) rs149439834 0.00008
NM_012463.4(ATP6V0A2):c.2367A>G (p.Leu789=) rs142041624 0.00008
NM_013339.4(ALG6):c.420T>C (p.Thr140=) rs150097046 0.00008
NM_013339.4(ALG6):c.915G>A (p.Thr305=) rs112769742 0.00008
NM_013339.4(ALG6):c.96G>A (p.Pro32=) rs149990175 0.00008
NM_019109.5(ALG1):c.1263+16A>G rs373065015 0.00008
NM_019109.5(ALG1):c.150G>A (p.Gln50=) rs144380244 0.00008
NM_019109.5(ALG1):c.391-11A>G rs767861344 0.00008
NM_024105.4(ALG12):c.768+10A>C rs779065174 0.00008
NM_024105.4(ALG12):c.777G>A (p.Pro259=) rs138060012 0.00008
NM_052859.4(RFT1):c.150-7T>C rs189282239 0.00008
NM_052859.4(RFT1):c.1599G>A (p.Val533=) rs372235619 0.00008
NM_001099922.3(ALG13):c.288C>T (p.Leu96=) rs369867857 0.00007
NM_002435.3(MPI):c.849C>T (p.Cys283=) rs377419930 0.00007
NM_003859.3(DPM1):c.684A>G (p.Pro228=) rs369538517 0.00007
NM_004870.4(MPDU1):c.636G>C (p.Leu212=) rs148586387 0.00007
NM_005787.6(ALG3):c.1215C>T (p.Ser405=) rs116621135 0.00007
NM_013339.4(ALG6):c.257+15C>A rs761827385 0.00007
NM_013339.4(ALG6):c.527G>T (p.Trp176Leu) rs773699560 0.00007
NM_033087.4(ALG2):c.348+20G>C rs768131229 0.00007
NM_052859.4(RFT1):c.1017C>T (p.Ala339=) rs142123445 0.00007
NM_052859.4(RFT1):c.1209-6C>T rs543699868 0.00007
NM_138459.5(NUS1):c.791+17G>A rs185389978 0.00007
NM_178862.3(STT3B):c.2175T>C (p.Phe725=) rs146718873 0.00007
NM_000303.3(PMM2):c.339G>A (p.Pro113=) rs149849259 0.00006
NM_000303.3(PMM2):c.435C>T (p.Tyr145=) rs550231531 0.00006
NM_000303.3(PMM2):c.640-12G>A rs375325546 0.00006
NM_001099922.3(ALG13):c.2369-19T>C rs376719251 0.00006
NM_001099922.3(ALG13):c.42C>A (p.Asp14Glu) rs200293248 0.00006
NM_001099922.3(ALG13):c.620G>A (p.Gly207Glu) rs775381422 0.00006
NM_001382.4(DPAGT1):c.351A>G (p.Val117=) rs146610900 0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_002435.3(MPI):c.390C>T (p.Pro130=) rs140961968 0.00006
NM_002435.3(MPI):c.708G>A (p.Glu236=) rs530537706 0.00006
NM_002633.3(PGM1):c.1248T>C (p.His416=) rs754762400 0.00006
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_003859.3(DPM1):c.261+8A>G rs369077586 0.00006
NM_003859.3(DPM1):c.286T>C (p.Leu96=) rs780244460 0.00006
NM_003863.4(DPM2):c.102C>T (p.Ile34=) rs777078287 0.00006
NM_003863.4(DPM2):c.3+14C>A rs375782774 0.00006
NM_004870.4(MPDU1):c.12G>A (p.Glu4=) rs146631664 0.00006
NM_005216.5(DDOST):c.1314C>T (p.Ser438=) rs764406890 0.00006
NM_005216.5(DDOST):c.552-13C>T rs373356614 0.00006
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.312C>T (p.Phe104=) rs767923381 0.00006
NM_013339.4(ALG6):c.1002A>G (p.Leu334=) rs377647534 0.00006
NM_013339.4(ALG6):c.1128-13T>A rs773823994 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.665G>A (p.Gly222Asp) rs532466353 0.00006
NM_013339.4(ALG6):c.816+10A>T rs529032571 0.00006
NM_014908.4(DOLK):c.1197A>G (p.Arg399=) rs767133437 0.00006
NM_014908.4(DOLK):c.1557C>T (p.Tyr519=) rs367609050 0.00006
NM_014908.4(DOLK):c.210C>G (p.Val70=) rs750368652 0.00006
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg) rs777998210 0.00006
NM_019109.5(ALG1):c.186G>T (p.Ser62=) rs767351398 0.00006
NM_019109.5(ALG1):c.286+13C>G rs767857889 0.00006
NM_019109.5(ALG1):c.286+15A>C rs376062732 0.00006
NM_019109.5(ALG1):c.962-6G>T rs769389896 0.00006
NM_019109.5(ALG1):c.993C>T (p.Arg331=) rs561385337 0.00006
NM_024079.5(ALG8):c.899-15A>G rs760264923 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024105.4(ALG12):c.1238+20C>T rs767126536 0.00006
NM_024105.4(ALG12):c.822C>T (p.Cys274=) rs757984807 0.00006
NM_024592.5(SRD5A3):c.123G>A (p.Pro41=) rs760463357 0.00006
NM_024740.2(ALG9):c.1533A>G (p.Glu511=) rs377345625 0.00006
NM_024740.2(ALG9):c.765G>A (p.Ser255=) rs372338362 0.00006
NM_024740.2(ALG9):c.790-4T>C rs534732271 0.00006
NM_033087.4(ALG2):c.255C>G (p.Gly85=) rs562977386 0.00006
NM_033087.4(ALG2):c.60C>T (p.Leu20=) rs200338773 0.00006
NM_033087.4(ALG2):c.981T>C (p.Phe327=) rs34382969 0.00006
NM_052859.4(RFT1):c.1458+18A>T rs373019694 0.00006
NM_138459.5(NUS1):c.144C>T (p.Val48=) rs767517042 0.00006
NM_138459.5(NUS1):c.691+11T>A rs201025128 0.00006
NM_138459.5(NUS1):c.699T>C (p.Asn233=) rs746621138 0.00006
NM_138459.5(NUS1):c.792-15G>A rs199793068 0.00006
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_001099922.3(ALG13):c.1087+18A>G rs374773161 0.00005
NM_001099922.3(ALG13):c.1377C>G (p.Ala459=) rs368020541 0.00005
NM_001099922.3(ALG13):c.139G>A (p.Val47Ile) rs766512298 0.00005
NM_001099922.3(ALG13):c.1831C>T (p.Leu611Phe) rs199505558 0.00005
NM_001099922.3(ALG13):c.2213A>G (p.Glu738Gly) rs374174400 0.00005
NM_001099922.3(ALG13):c.2805T>A (p.Pro935=) rs754346057 0.00005
NM_001099922.3(ALG13):c.3240A>G (p.Pro1080=) rs773452673 0.00005
NM_001099922.3(ALG13):c.880C>G (p.Pro294Ala) rs753556936 0.00005
NM_001382.4(DPAGT1):c.644-10G>A rs192269738 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 0.00005
NM_002633.3(PGM1):c.1257G>A (p.Lys419=) rs371451091 0.00005
NM_003859.3(DPM1):c.456A>G (p.Gly152=) rs370598866 0.00005
NM_003863.4(DPM2):c.197-5C>T rs886063482 0.00005
NM_005216.5(DDOST):c.207C>T (p.Leu69=) rs753702642 0.00005
NM_012463.4(ATP6V0A2):c.388C>T (p.His130Tyr) rs199801221 0.00005
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502 0.00005
NM_013339.4(ALG6):c.1159C>T (p.Leu387=) rs754054503 0.00005
NM_013339.4(ALG6):c.246A>T (p.Leu82=) rs112029121 0.00005
NM_013339.4(ALG6):c.555C>T (p.Cys185=) rs144065966 0.00005
NM_013339.4(ALG6):c.708T>C (p.Cys236=) rs374672230 0.00005
NM_014908.4(DOLK):c.1011A>G (p.Arg337=) rs375939944 0.00005
NM_014908.4(DOLK):c.1597C>T (p.Leu533=) rs199672668 0.00005
NM_014908.4(DOLK):c.33G>A (p.Gly11=) rs375483505 0.00005
NM_014908.4(DOLK):c.435C>T (p.Gly145=) rs781307203 0.00005
NM_019109.5(ALG1):c.1188-4G>A rs530972149 0.00005
NM_019109.5(ALG1):c.522C>T (p.Leu174=) rs776753482 0.00005
NM_019109.5(ALG1):c.758C>A (p.Pro253Gln) rs770327947 0.00005
NM_019109.5(ALG1):c.774G>C (p.Ser258=) rs757068692 0.00005
NM_024105.4(ALG12):c.402G>A (p.Thr134=) rs370059291 0.00005
NM_024105.4(ALG12):c.534C>T (p.Phe178=) rs139916198 0.00005
NM_024740.2(ALG9):c.896-3C>T rs782063335 0.00005
NM_033087.4(ALG2):c.1200T>C (p.Pro400=) rs764916897 0.00005
NM_052859.4(RFT1):c.559-15T>G rs371166734 0.00005
NM_052859.4(RFT1):c.657C>T (p.Ser219=) rs149157065 0.00005
NM_052859.4(RFT1):c.849T>C (p.Asn283=) rs369926092 0.00005
NM_178862.3(STT3B):c.1398A>G (p.Pro466=) rs143950703 0.00005
NM_000303.3(PMM2):c.120A>G (p.Lys40=) rs975864088 0.00004
NM_000303.3(PMM2):c.135C>T (p.Gly45=) rs748980961 0.00004
NM_000303.3(PMM2):c.192C>T (p.Tyr64=) rs372537052 0.00004
NM_000303.3(PMM2):c.384C>T (p.Asn128=) rs147068457 0.00004
NM_000303.3(PMM2):c.639+10G>A rs200593954 0.00004
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) rs369694921 0.00004
NM_001004127.3(ALG11):c.44+19G>A rs748893269 0.00004
NM_001099922.3(ALG13):c.1304A>G (p.Asn435Ser) rs747478031 0.00004
NM_001099922.3(ALG13):c.1388A>G (p.Glu463Gly) rs184599884 0.00004
NM_001099922.3(ALG13):c.1435+20A>G rs368555602 0.00004
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727 0.00004
NM_001099922.3(ALG13):c.246T>G (p.Gly82=) rs1934561313 0.00004
NM_001099922.3(ALG13):c.2808T>A (p.Pro936=) rs1402009098 0.00004
NM_001099922.3(ALG13):c.2811T>A (p.Pro937=) rs1464628002 0.00004
NM_001099922.3(ALG13):c.3132G>A (p.Ala1044=) rs376626719 0.00004
NM_001099922.3(ALG13):c.511A>G (p.Lys171Glu) rs750037026 0.00004
NM_001382.4(DPAGT1):c.162-6C>T rs761454590 0.00004
NM_001382.4(DPAGT1):c.291C>G (p.Ala97=) rs756818317 0.00004
NM_001382.4(DPAGT1):c.33G>A (p.Leu11=) rs773853061 0.00004
NM_002435.3(MPI):c.1053+15A>G rs564765063 0.00004
NM_002633.3(PGM1):c.1023G>A (p.Leu341=) rs750218135 0.00004
NM_002633.3(PGM1):c.57G>A (p.Thr19=) rs764100819 0.00004
NM_002633.3(PGM1):c.99C>T (p.Ala33=) rs373394538 0.00004
NM_003859.3(DPM1):c.161+18C>T rs112688266 0.00004
NM_003859.3(DPM1):c.570C>T (p.Tyr190=) rs754109868 0.00004
NM_003859.3(DPM1):c.678+9C>T rs749718528 0.00004
NM_003863.4(DPM2):c.39C>G (p.Leu13=) rs757467123 0.00004
NM_003863.4(DPM2):c.94-19G>A rs760505582 0.00004
NM_003863.4(DPM2):c.94-9C>T rs373340697 0.00004
NM_005216.5(DDOST):c.1206G>A (p.Glu402=) rs1262965370 0.00004
NM_005216.5(DDOST):c.1236C>T (p.Tyr412=) rs376894317 0.00004
NM_005216.5(DDOST):c.468C>T (p.Ile156=) rs376070047 0.00004
NM_005787.6(ALG3):c.549C>T (p.Phe183=) rs780507509 0.00004
NM_005787.6(ALG3):c.642C>T (p.Phe214=) rs545724911 0.00004
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser) rs771839087 0.00004
NM_012463.4(ATP6V0A2):c.1194C>T (p.Leu398=) rs775345155 0.00004
NM_012463.4(ATP6V0A2):c.2439G>A (p.Ala813=) rs200933894 0.00004
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869 0.00004
NM_013339.4(ALG6):c.1362G>A (p.Thr454=) rs767257355 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.258-16A>G rs1289325321 0.00004
NM_013339.4(ALG6):c.357T>G (p.Ala119=) rs776226631 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_013339.4(ALG6):c.988-20C>T rs377453006 0.00004
NM_013339.4(ALG6):c.999G>A (p.Ala333=) rs375487839 0.00004
NM_014908.4(DOLK):c.114A>G (p.Val38=) rs142000757 0.00004
NM_014908.4(DOLK):c.1371C>T (p.Phe457=) rs772013831 0.00004
NM_014908.4(DOLK):c.1422G>A (p.Glu474=) rs894096556 0.00004
NM_014908.4(DOLK):c.177G>A (p.Lys59=) rs747110969 0.00004
NM_014908.4(DOLK):c.807T>C (p.Gly269=) rs769294980 0.00004
NM_019109.5(ALG1):c.1077G>A (p.Ser359=) rs564052127 0.00004
NM_019109.5(ALG1):c.1353G>A (p.Glu451=) rs772562254 0.00004
NM_019109.5(ALG1):c.221A>T (p.His74Leu) rs201337379 0.00004
NM_019109.5(ALG1):c.309C>T (p.Tyr103=) rs199553558 0.00004
NM_019109.5(ALG1):c.639C>T (p.Thr213=) rs753164786 0.00004
NM_019109.5(ALG1):c.654C>T (p.Pro218=) rs375422039 0.00004
NM_019109.5(ALG1):c.682G>T (p.Asp228Tyr) rs145158686 0.00004
NM_019109.5(ALG1):c.741-13T>C rs368398266 0.00004
NM_024079.5(ALG8):c.546+7A>T rs771817128 0.00004
NM_024105.4(ALG12):c.163-5C>T rs368302798 0.00004
NM_024105.4(ALG12):c.165C>T (p.Tyr55=) rs563259198 0.00004
NM_024740.2(ALG9):c.1038G>A (p.Pro346=) rs372262029 0.00004
NM_024740.2(ALG9):c.246T>C (p.Asp82=) rs782243361 0.00004
NM_024740.2(ALG9):c.405+8C>A rs559793984 0.00004
NM_033087.4(ALG2):c.1116A>G (p.Ala372=) rs573570972 0.00004
NM_033087.4(ALG2):c.657A>C (p.Leu219=) rs201667181 0.00004
NM_033087.4(ALG2):c.687C>T (p.Leu229=) rs762613857 0.00004
NM_052859.4(RFT1):c.1208+15A>G rs1448297165 0.00004
NM_052859.4(RFT1):c.1209-16C>T rs567150690 0.00004
NM_052859.4(RFT1):c.1344C>T (p.Cys448=) rs369135875 0.00004
NM_052859.4(RFT1):c.345T>C (p.Val115=) rs761692538 0.00004
NM_052859.4(RFT1):c.387G>A (p.Ser129=) rs914696330 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_138459.5(NUS1):c.288G>A (p.Lys96=) rs566608977 0.00004
NM_138459.5(NUS1):c.822T>C (p.Tyr274=) rs759399174 0.00004
NM_138459.5(NUS1):c.870T>G (p.Arg290=) rs529109392 0.00004
NM_178862.3(STT3B):c.314+9C>T rs549989552 0.00004
NM_000303.3(PMM2):c.24C>G (p.Leu8=) rs751757467 0.00003
NM_000303.3(PMM2):c.256-10C>T rs756647792 0.00003
NM_000303.3(PMM2):c.573C>T (p.Tyr191=) rs201440361 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000303.3(PMM2):c.699G>A (p.Ala233=) rs375881270 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_001099922.3(ALG13):c.1209C>T (p.Ser403=) rs773641755 0.00003
NM_001099922.3(ALG13):c.1737A>G (p.Ser579=) rs889996527 0.00003
NM_001099922.3(ALG13):c.1798A>G (p.Met600Val) rs189931917 0.00003
NM_001099922.3(ALG13):c.1812C>T (p.Tyr604=) rs768241839 0.00003
NM_001099922.3(ALG13):c.2004C>T (p.His668=) rs1024835814 0.00003
NM_001099922.3(ALG13):c.2401+9G>T rs1036320277 0.00003
NM_001099922.3(ALG13):c.2624G>C (p.Ser875Thr) rs757522953 0.00003
NM_001099922.3(ALG13):c.2973+10A>G rs1027238133 0.00003
NM_001099922.3(ALG13):c.303C>T (p.Asn101=) rs763113044 0.00003
NM_001099922.3(ALG13):c.3174A>G (p.Ser1058=) rs369901028 0.00003
NM_001099922.3(ALG13):c.819A>G (p.Gln273=) rs774384951 0.00003
NM_001099922.3(ALG13):c.927T>A (p.Ile309=) rs1939944337 0.00003
NM_001382.4(DPAGT1):c.283-9C>T rs746355462 0.00003
NM_001382.4(DPAGT1):c.496+17C>T rs749725470 0.00003
NM_001382.4(DPAGT1):c.644-15T>A rs749199504 0.00003
NM_001382.4(DPAGT1):c.918-8C>T rs531346717 0.00003
NM_002435.3(MPI):c.144+12G>T rs369867765 0.00003
NM_002435.3(MPI):c.162C>T (p.His54=) rs763885017 0.00003
NM_002435.3(MPI):c.69C>T (p.Ser23=) rs140124850 0.00003
NM_002435.3(MPI):c.780T>C (p.Leu260=) rs371012451 0.00003
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002633.3(PGM1):c.12C>A (p.Ile4=) rs775862619 0.00003
NM_002633.3(PGM1):c.264C>T (p.Ile88=) rs200946909 0.00003
NM_002633.3(PGM1):c.64C>T (p.Leu22=) rs1395771160 0.00003
NM_003859.3(DPM1):c.161+17C>T rs777976660 0.00003
NM_003859.3(DPM1):c.171C>T (p.Asn57=) rs755192460 0.00003
NM_003859.3(DPM1):c.57G>T (p.Val19=) rs1311416348 0.00003
NM_003859.3(DPM1):c.9C>G (p.Ser3=) rs150509150 0.00003
NM_005216.5(DDOST):c.399C>T (p.Asp133=) rs199859745 0.00003
NM_005216.5(DDOST):c.777G>A (p.Ala259=) rs757033527 0.00003
NM_012463.4(ATP6V0A2):c.1014G>A (p.Leu338=) rs917452697 0.00003
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00003
NM_012463.4(ATP6V0A2):c.1515-12T>G rs201512900 0.00003
NM_012463.4(ATP6V0A2):c.1971A>G (p.Ala657=) rs149123235 0.00003
NM_012463.4(ATP6V0A2):c.2166G>A (p.Ala722=) rs753589480 0.00003
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=) rs375372808 0.00003
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) rs762290613 0.00003
NM_012463.4(ATP6V0A2):c.521+14C>T rs747194853 0.00003
NM_012463.4(ATP6V0A2):c.621G>A (p.Leu207=) rs374338507 0.00003
NM_012463.4(ATP6V0A2):c.993C>T (p.Pro331=) rs367873118 0.00003
NM_013339.4(ALG6):c.1059-9C>T rs375216174 0.00003
NM_013339.4(ALG6):c.1308C>T (p.Ser436=) rs1271255207 0.00003
NM_013339.4(ALG6):c.669C>T (p.Leu223=) rs377089305 0.00003
NM_014908.4(DOLK):c.1005C>T (p.Ile335=) rs370084249 0.00003
NM_014908.4(DOLK):c.1086C>T (p.Ala362=) rs751762161 0.00003
NM_014908.4(DOLK):c.1221A>G (p.Thr407=) rs973710719 0.00003
NM_014908.4(DOLK):c.1527C>T (p.Ser509=) rs746460508 0.00003
NM_014908.4(DOLK):c.380T>C (p.Val127Ala) rs201629680 0.00003
NM_014908.4(DOLK):c.819C>T (p.Pro273=) rs745508730 0.00003
NM_014908.4(DOLK):c.924C>T (p.Ala308=) rs531714647 0.00003
NM_019109.4(ALG1):c.208+12A>G rs777062447 0.00003
NM_019109.5(ALG1):c.1050C>T (p.Ala350=) rs777066439 0.00003
NM_019109.5(ALG1):c.1073-20C>T rs779627691 0.00003
NM_019109.5(ALG1):c.1263+18C>T rs570783073 0.00003
NM_019109.5(ALG1):c.1263+20C>T rs1338515291 0.00003
NM_019109.5(ALG1):c.1275A>C (p.Ser425=) rs746944961 0.00003
NM_019109.5(ALG1):c.286+10C>T rs371480769 0.00003
NM_019109.5(ALG1):c.539+15A>G rs777450873 0.00003
NM_019109.5(ALG1):c.629+11C>T rs776701190 0.00003
NM_019109.5(ALG1):c.648C>T (p.Asp216=) rs141455029 0.00003
NM_019109.5(ALG1):c.726T>C (p.Ser242=) rs780479533 0.00003
NM_019109.5(ALG1):c.961+19G>A rs768688738 0.00003
NM_024079.5(ALG8):c.369-15A>G rs374645837 0.00003
NM_024105.4(ALG12):c.1144C>T (p.Leu382=) rs745820643 0.00003
NM_024105.4(ALG12):c.1163-20G>C rs371655793 0.00003
NM_024105.4(ALG12):c.1164C>T (p.Asp388=) rs557130467 0.00003
NM_024105.4(ALG12):c.1272A>G (p.Thr424=) rs368420135 0.00003
NM_024105.4(ALG12):c.1461G>A (p.Pro487=) rs541941913 0.00003
NM_024105.4(ALG12):c.183C>T (p.Pro61=) rs749156618 0.00003
NM_024105.4(ALG12):c.469+17C>T rs752634210 0.00003
NM_024105.4(ALG12):c.470-15C>T rs367584975 0.00003
NM_024105.4(ALG12):c.837C>T (p.Ile279=) rs200095556 0.00003
NM_024105.4(ALG12):c.912C>T (p.Leu304=) rs1226459157 0.00003
NM_024592.5(SRD5A3):c.423A>G (p.Leu141=) rs143299030 0.00003
NM_024740.2(ALG9):c.477-15T>C rs782507133 0.00003
NM_024740.2(ALG9):c.504C>T (p.His168=) rs782753981 0.00003
NM_033087.4(ALG2):c.159C>T (p.His53=) rs527683080 0.00003
NM_033087.4(ALG2):c.495C>T (p.Tyr165=) rs962112292 0.00003
NM_033087.4(ALG2):c.783G>A (p.Arg261=) rs765386769 0.00003
NM_052859.4(RFT1):c.1071C>T (p.Ile357=) rs367909153 0.00003
NM_052859.4(RFT1):c.117G>A (p.Leu39=) rs368675325 0.00003
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp) rs151322409 0.00003
NM_052859.4(RFT1):c.264A>G (p.Leu88=) rs751934184 0.00003
NM_052859.4(RFT1):c.267-9C>G rs1396877928 0.00003
NM_138459.5(NUS1):c.692-19G>A rs754104717 0.00003
NM_138459.5(NUS1):c.791+16_791+17insTTTGTTTAGATTCA rs1201766536 0.00003
NM_138459.5(NUS1):c.791+19_791+20insAT rs1239155154 0.00003
NM_178862.3(STT3B):c.1335A>G (p.Leu445=) rs775157879 0.00003
NM_178862.3(STT3B):c.777+11A>G rs537758327 0.00003
NM_000303.3(PMM2):c.15C>A (p.Gly5=) rs1277297216 0.00002
NM_000303.3(PMM2):c.524-16C>T rs748427371 0.00002
NM_000303.3(PMM2):c.711G>A (p.Thr237=) rs753794337 0.00002
NM_001099922.3(ALG13):c.1005+15G>A rs751530957 0.00002
NM_001099922.3(ALG13):c.1005+4A>G rs758242204 0.00002
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys) rs1272022379 0.00002
NM_001099922.3(ALG13):c.1377C>T (p.Ala459=) rs368020541 0.00002
NM_001099922.3(ALG13):c.1596G>A (p.Ala532=) rs891310320 0.00002
NM_001099922.3(ALG13):c.1822G>C (p.Asp608His) rs374870130 0.00002
NM_001099922.3(ALG13):c.1977-12C>T rs374618611 0.00002
NM_001099922.3(ALG13):c.2112C>T (p.Arg704=) rs775927215 0.00002
NM_001099922.3(ALG13):c.2248-11C>T rs377064873 0.00002
NM_001099922.3(ALG13):c.2278G>T (p.Ala760Ser) rs773286994 0.00002
NM_001099922.3(ALG13):c.2324A>G (p.Lys775Arg) rs766946325 0.00002
NM_001099922.3(ALG13):c.2369G>A (p.Gly790Glu) rs745411126 0.00002
NM_001099922.3(ALG13):c.2754A>G (p.Leu918=) rs1057523456 0.00002
NM_001099922.3(ALG13):c.2863T>C (p.Leu955=) rs1200753439 0.00002
NM_001099922.3(ALG13):c.2973+20T>A rs368694871 0.00002
NM_001099922.3(ALG13):c.3404A>G (p.Gln1135Arg) rs771207661 0.00002
NM_001099922.3(ALG13):c.441A>G (p.Gln147=) rs1391605283 0.00002
NM_001099922.3(ALG13):c.541A>G (p.Thr181Ala) rs774646647 0.00002
NM_001099922.3(ALG13):c.54G>A (p.Ala18=) rs1406539581 0.00002
NM_001099922.3(ALG13):c.588T>G (p.Pro196=) rs747214832 0.00002
NM_001099922.3(ALG13):c.696T>C (p.Phe232=) rs766736046 0.00002
NM_001099922.3(ALG13):c.6G>A (p.Lys2=) rs1380956380 0.00002
NM_001099922.3(ALG13):c.804T>C (p.Tyr268=) rs1375106247 0.00002
NM_001099922.3(ALG13):c.885+14T>C rs746055178 0.00002
NM_001099922.3(ALG13):c.886-19A>G rs773121084 0.00002
NM_001099922.3(ALG13):c.889A>G (p.Ser297Gly) rs372176416 0.00002
NM_001099922.3(ALG13):c.933-4A>G rs1389043493 0.00002
NM_001382.4(DPAGT1):c.270C>T (p.Phe90=) rs780625734 0.00002
NM_001382.4(DPAGT1):c.497-5C>T rs556782038 0.00002
NM_002435.3(MPI):c.1233G>A (p.Pro411=) rs746867428 0.00002
NM_002435.3(MPI):c.1271A>G (p.Ter424=) rs896962413 0.00002
NM_002435.3(MPI):c.17-7C>T rs539654088 0.00002
NM_002435.3(MPI):c.345+20G>A rs772479528 0.00002
NM_002435.3(MPI):c.345+26G>A rs144839533 0.00002
NM_002435.3(MPI):c.639C>T (p.Leu213=) rs763155512 0.00002
NM_002435.3(MPI):c.90G>A (p.Leu30=) rs760006403 0.00002
NM_002633.3(PGM1):c.1104G>A (p.Ala368=) rs776558188 0.00002
NM_002633.3(PGM1):c.1170T>C (p.Asp390=) rs779705334 0.00002
NM_003859.3(DPM1):c.296-10T>C rs765027931 0.00002
NM_003859.3(DPM1):c.494+8C>T rs367586095 0.00002
NM_003859.3(DPM1):c.726A>G (p.Gly242=) rs772092645 0.00002
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) rs199498675 0.00002
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_004870.4(MPDU1):c.672C>T (p.Asn224=) rs535356783 0.00002
NM_005216.5(DDOST):c.1305G>A (p.Lys435=) rs370226725 0.00002
NM_005787.6(ALG3):c.1107C>T (p.Pro369=) rs753913644 0.00002
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00002
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) rs202084330 0.00002
NM_012463.4(ATP6V0A2):c.2244C>A (p.Ser748=) rs759226841 0.00002
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=) rs759193879 0.00002
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=) rs1308437998 0.00002
NM_012463.4(ATP6V0A2):c.2320C>T (p.Leu774=) rs1337898685 0.00002
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=) rs571286312 0.00002
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944 0.00002
NM_013339.4(ALG6):c.1056A>G (p.Ser352=) rs371100177 0.00002
NM_013339.4(ALG6):c.1200T>C (p.Ala400=) rs780988843 0.00002
NM_013339.4(ALG6):c.1326+20A>G rs1382330745 0.00002
NM_013339.4(ALG6):c.257+11C>G rs774093513 0.00002
NM_013339.4(ALG6):c.495-16C>A rs371088118 0.00002
NM_013339.4(ALG6):c.54A>G (p.Arg18=) rs373800951 0.00002
NM_013339.4(ALG6):c.82+19T>C rs376116153 0.00002
NM_013339.4(ALG6):c.902+19G>A rs1057522483 0.00002
NM_013339.4(ALG6):c.921G>A (p.Leu307=) rs572008178 0.00002
NM_014908.4(DOLK):c.1326C>T (p.Ala442=) rs762899278 0.00002
NM_014908.4(DOLK):c.1491G>A (p.Val497=) rs749118990 0.00002
NM_014908.4(DOLK):c.885C>T (p.Asp295=) rs762558659 0.00002
NM_019109.4(ALG1):c.196C>T (p.Leu66=) rs753405851 0.00002
NM_019109.5(ALG1):c.135C>T (p.Arg45=) rs779092735 0.00002
NM_019109.5(ALG1):c.208+14_208+17dup rs746780708 0.00002
NM_019109.5(ALG1):c.579G>A (p.Leu193=) rs750145784 0.00002
NM_019109.5(ALG1):c.945C>T (p.Leu315=) rs766773704 0.00002
NM_024079.5(ALG8):c.1276+9C>T rs747836496 0.00002
NM_024079.5(ALG8):c.95+16G>A rs376357429 0.00002
NM_024105.4(ALG12):c.1020G>A (p.Leu340=) rs774752704 0.00002
NM_024105.4(ALG12):c.1119C>T (p.Gly373=) rs765700872 0.00002
NM_024105.4(ALG12):c.1122C>T (p.Val374=) rs373583849 0.00002
NM_024105.4(ALG12):c.1239-16A>G rs915149632 0.00002
NM_024105.4(ALG12):c.1242C>T (p.Tyr414=) rs121907935 0.00002
NM_024105.4(ALG12):c.1413C>T (p.Asn471=) rs767232423 0.00002
NM_024105.4(ALG12):c.163-4G>A rs776043296 0.00002
NM_024105.4(ALG12):c.207C>T (p.Leu69=) rs765297992 0.00002
NM_024105.4(ALG12):c.435G>A (p.Thr145=) rs781076714 0.00002
NM_024105.4(ALG12):c.470-10T>C rs925389913 0.00002
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380 0.00002
NM_024592.5(SRD5A3):c.365-19G>C rs376721684 0.00002
NM_024592.5(SRD5A3):c.444C>T (p.Leu148=) rs201424796 0.00002
NM_033087.4(ALG2):c.1230T>C (p.Tyr410=) rs372356780 0.00002
NM_033087.4(ALG2):c.426G>C (p.Leu142=) rs778882264 0.00002
NM_033087.4(ALG2):c.462A>G (p.Leu154=) rs746100517 0.00002
NM_033087.4(ALG2):c.6G>A (p.Ala2=) rs766287162 0.00002
NM_033087.4(ALG2):c.93G>C (p.Arg31=) rs1012959999 0.00002
NM_052859.4(RFT1):c.1606C>T (p.Arg536Cys) rs376867132 0.00002
NM_052859.4(RFT1):c.558+10A>T rs780500145 0.00002
NM_052859.4(RFT1):c.64-16T>C rs773512206 0.00002
NM_052859.4(RFT1):c.958-17C>T rs375365942 0.00002
NM_138459.5(NUS1):c.153G>T (p.Pro51=) rs868271796 0.00002
NM_138459.5(NUS1):c.324G>A (p.Val108=) rs769619847 0.00002
NM_000303.3(PMM2):c.111G>A (p.Gln37=) rs762773046 0.00001
NM_000303.3(PMM2):c.126A>G (p.Gly42=) rs766984518 0.00001
NM_000303.3(PMM2):c.129G>C (p.Val43=) rs777608895 0.00001
NM_000303.3(PMM2):c.141G>A (p.Ser47=) rs533650526 0.00001
NM_000303.3(PMM2):c.159G>A (p.Gln53=) rs1481859853 0.00001
NM_000303.3(PMM2):c.179-4G>T rs776262869 0.00001
NM_000303.3(PMM2):c.213T>C (p.Asn71=) rs1209724849 0.00001
NM_000303.3(PMM2):c.240A>G (p.Lys80=) rs748552663 0.00001
NM_000303.3(PMM2):c.27C>T (p.Cys9=) rs1057516943 0.00001
NM_000303.3(PMM2):c.306C>T (p.Tyr102=) rs184769421 0.00001
NM_000303.3(PMM2):c.312G>A (p.Leu104=) rs773943361 0.00001
NM_000303.3(PMM2):c.390C>T (p.Ser130=) rs763944822 0.00001
NM_000303.3(PMM2):c.408C>T (p.Cys136=) rs371694616 0.00001
NM_000303.3(PMM2):c.414A>G (p.Gln138=) rs1465175487 0.00001
NM_000303.3(PMM2):c.523+8A>G rs374840518 0.00001
NM_000303.3(PMM2):c.524-15G>A rs770574770 0.00001
NM_000303.3(PMM2):c.524-6C>T rs772184641 0.00001
NM_000303.3(PMM2):c.549T>C (p.Phe183=) rs1426754260 0.00001
NM_000303.3(PMM2):c.639+7A>G rs2060687125 0.00001
NM_000303.3(PMM2):c.640-7T>C rs1255464127 0.00001
NM_000303.3(PMM2):c.648T>C (p.Asn216=) rs139236770 0.00001
NM_000303.3(PMM2):c.66+7G>A rs1272368081 0.00001
NM_000303.3(PMM2):c.690C>T (p.Ser230=) rs769332588 0.00001
NM_000303.3(PMM2):c.720C>A (p.Ile240=) rs923499720 0.00001
NM_001004127.3(ALG11):c.987G>A (p.Lys329=) rs921029114 0.00001
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln) rs1189252877 0.00001
NM_001099922.3(ALG13):c.1029T>C (p.Ser343=) rs772765360 0.00001
NM_001099922.3(ALG13):c.1134A>G (p.Glu378=) rs778696912 0.00001
NM_001099922.3(ALG13):c.114C>T (p.Ile38=) rs1206750653 0.00001
NM_001099922.3(ALG13):c.1164T>C (p.Phe388=) rs1463398527 0.00001
NM_001099922.3(ALG13):c.1182G>A (p.Lys394=) rs1602694246 0.00001
NM_001099922.3(ALG13):c.1217C>T (p.Ala406Val) rs1057522541 0.00001
NM_001099922.3(ALG13):c.1308A>G (p.Lys436=) rs1423402192 0.00001
NM_001099922.3(ALG13):c.1435+12T>C rs1051547008 0.00001
NM_001099922.3(ALG13):c.1729+8T>C rs762562568 0.00001
NM_001099922.3(ALG13):c.172C>T (p.Leu58=) rs765437651 0.00001
NM_001099922.3(ALG13):c.1730-20C>T rs1942098220 0.00001
NM_001099922.3(ALG13):c.1730-7C>T rs750726885 0.00001
NM_001099922.3(ALG13):c.1851C>T (p.His617=) rs1454391584 0.00001
NM_001099922.3(ALG13):c.1869C>T (p.His623=) rs747208594 0.00001
NM_001099922.3(ALG13):c.1896A>T (p.Thr632=) rs1258429433 0.00001
NM_001099922.3(ALG13):c.1921C>G (p.His641Asp) rs760283589 0.00001
NM_001099922.3(ALG13):c.1934A>C (p.Gln645Pro) rs765734812 0.00001
NM_001099922.3(ALG13):c.1947G>A (p.Pro649=) rs758659441 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2055C>T (p.Cys685=) rs1942191104 0.00001
NM_001099922.3(ALG13):c.2082T>C (p.Tyr694=) rs778640194 0.00001
NM_001099922.3(ALG13):c.2320G>C (p.Gly774Arg) rs1208800822 0.00001
NM_001099922.3(ALG13):c.2368+10T>G rs1556509952 0.00001
NM_001099922.3(ALG13):c.2376T>C (p.Tyr792=) rs776863825 0.00001
NM_001099922.3(ALG13):c.2395C>T (p.Arg799Cys) rs763877039 0.00001
NM_001099922.3(ALG13):c.2434A>G (p.Thr812Ala) rs781178409 0.00001
NM_001099922.3(ALG13):c.245-12T>G rs773672059 0.00001
NM_001099922.3(ALG13):c.245-20A>C rs747784575 0.00001
NM_001099922.3(ALG13):c.2475G>A (p.Lys825=) rs1298792527 0.00001
NM_001099922.3(ALG13):c.2523C>T (p.Pro841=) rs1229717685 0.00001
NM_001099922.3(ALG13):c.2529+11T>C rs773084617 0.00001
NM_001099922.3(ALG13):c.2529+7C>T rs1307752089 0.00001
NM_001099922.3(ALG13):c.2529+9C>T rs771372378 0.00001
NM_001099922.3(ALG13):c.2605G>A (p.Ala869Thr) rs1202237862 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001099922.3(ALG13):c.2695+15G>C rs1057522064 0.00001
NM_001099922.3(ALG13):c.2703C>T (p.Ala901=) rs1190999050 0.00001
NM_001099922.3(ALG13):c.273A>G (p.Glu91=) rs1057522348 0.00001
NM_001099922.3(ALG13):c.2884C>T (p.Pro962Ser) rs1172385892 0.00001
NM_001099922.3(ALG13):c.2913C>T (p.Ser971=) rs1944100964 0.00001
NM_001099922.3(ALG13):c.2944T>C (p.Leu982=) rs759545615 0.00001
NM_001099922.3(ALG13):c.3084C>T (p.Thr1028=) rs758300150 0.00001
NM_001099922.3(ALG13):c.3159G>A (p.Pro1053=) rs1556539037 0.00001
NM_001099922.3(ALG13):c.3225G>A (p.Gly1075=) rs771997156 0.00001
NM_001099922.3(ALG13):c.3261G>A (p.Pro1087=) rs775320246 0.00001
NM_001099922.3(ALG13):c.3264T>C (p.Val1088=) rs762647183 0.00001
NM_001099922.3(ALG13):c.3270A>G (p.Pro1090=) rs1399015543 0.00001
NM_001099922.3(ALG13):c.384-8T>C rs1276902484 0.00001
NM_001099922.3(ALG13):c.426T>C (p.Ala142=) rs759472632 0.00001
NM_001099922.3(ALG13):c.429T>C (p.Pro143=) rs1173829709 0.00001
NM_001099922.3(ALG13):c.456G>A (p.Leu152=) rs762934062 0.00001
NM_001099922.3(ALG13):c.744G>A (p.Ser248=) rs755327837 0.00001
NM_001099922.3(ALG13):c.886-12A>G rs770400535 0.00001
NM_001099922.3(ALG13):c.886-17A>G rs1057523046 0.00001
NM_001382.4(DPAGT1):c.1006-8C>G rs1357255095 0.00001
NM_001382.4(DPAGT1):c.1134C>T (p.Asn378=) rs761911331 0.00001
NM_001382.4(DPAGT1):c.1141T>C (p.Leu381=) rs768805817 0.00001
NM_001382.4(DPAGT1):c.1161+10G>A rs761082821 0.00001
NM_001382.4(DPAGT1):c.1188C>T (p.Ser396=) rs747073447 0.00001
NM_001382.4(DPAGT1):c.1203C>T (p.Leu401=) rs746759603 0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=) rs772133269 0.00001
NM_001382.4(DPAGT1):c.1224C>T (p.Val408=) rs200588529 0.00001
NM_001382.4(DPAGT1):c.162-20C>T rs749879111 0.00001
NM_001382.4(DPAGT1):c.216C>T (p.Cys72=) rs1438468092 0.00001
NM_001382.4(DPAGT1):c.34C>T (p.Leu12=) rs200991527 0.00001
NM_001382.4(DPAGT1):c.471G>A (p.Pro157=) rs376528767 0.00001
NM_001382.4(DPAGT1):c.621C>T (p.Val207=) rs778726543 0.00001
NM_001382.4(DPAGT1):c.633A>G (p.Val211=) rs767551785 0.00001
NM_001382.4(DPAGT1):c.643+14G>C rs536452844 0.00001
NM_001382.4(DPAGT1):c.714G>A (p.Leu238=) rs1371529040 0.00001
NM_001382.4(DPAGT1):c.828A>G (p.Leu276=) rs780516960 0.00001
NM_001382.4(DPAGT1):c.933A>G (p.Thr311=) rs1432186196 0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=) rs779048359 0.00001
NM_002435.3(MPI):c.1002C>T (p.Tyr334=) rs1244689117 0.00001
NM_002435.3(MPI):c.1038C>T (p.Thr346=) rs2064832183 0.00001
NM_002435.3(MPI):c.123A>G (p.Ala41=) rs1280433010 0.00001
NM_002435.3(MPI):c.1242G>A (p.Leu414=) rs780975089 0.00001
NM_002435.3(MPI):c.145-11T>C rs768029221 0.00001
NM_002435.3(MPI):c.16+16G>T rs751527702 0.00001
NM_002435.3(MPI):c.16+8A>G rs765308824 0.00001
NM_002435.3(MPI):c.16+9T>C rs763004015 0.00001
NM_002435.3(MPI):c.18A>G (p.Val6=) rs754249618 0.00001
NM_002435.3(MPI):c.216C>T (p.Ser72=) rs772501173 0.00001
NM_002435.3(MPI):c.244T>C (p.Leu82=) rs1360638113 0.00001
NM_002435.3(MPI):c.264C>T (p.Asp88=) rs529795568 0.00001
NM_002435.3(MPI):c.27T>G (p.Leu9=) rs193018589 0.00001
NM_002435.3(MPI):c.285C>T (p.Pro95=) rs1001297444 0.00001
NM_002435.3(MPI):c.603G>C (p.Leu201=) rs369609955 0.00001
NM_002435.3(MPI):c.651G>A (p.Val217=) rs762051658 0.00001
NM_002435.3(MPI):c.723G>A (p.Leu241=) rs965973212 0.00001
NM_002435.3(MPI):c.732G>A (p.Gln244=) rs755747644 0.00001
NM_002435.3(MPI):c.747C>T (p.Ile249=) rs778875616 0.00001
NM_002435.3(MPI):c.768C>T (p.Phe256=) rs1402063128 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002435.3(MPI):c.963C>T (p.Asp321=) rs1256066211 0.00001
NM_002435.3(MPI):c.96C>T (p.Ala32=) rs919325069 0.00001
NM_002633.3(PGM1):c.1144+16G>A rs755514698 0.00001
NM_002633.3(PGM1):c.1476C>T (p.Leu492=) rs1649899491 0.00001
NM_002633.3(PGM1):c.1485A>G (p.Thr495=) rs1172911815 0.00001
NM_002633.3(PGM1):c.159G>A (p.Gln53=) rs370087543 0.00001
NM_002633.3(PGM1):c.1614C>T (p.Pro538=) rs775453982 0.00001
NM_002633.3(PGM1):c.327T>C (p.Ile109=) rs770271653 0.00001
NM_003859.3(DPM1):c.162-17A>G rs376823531 0.00001
NM_003859.3(DPM1):c.219T>C (p.Asp73=) rs753295960 0.00001
NM_003859.3(DPM1):c.295+7C>T rs775797102 0.00001
NM_003859.3(DPM1):c.295+8G>A rs758553918 0.00001
NM_003859.3(DPM1):c.339C>T (p.Tyr113=) rs749555898 0.00001
NM_003859.3(DPM1):c.373-11T>C rs750138754 0.00001
NM_003859.3(DPM1):c.563+15T>C rs1285003493 0.00001
NM_003859.3(DPM1):c.678+8A>G rs771147863 0.00001
NM_003859.3(DPM1):c.679-12T>A rs1985048219 0.00001
NM_003863.4(DPM2):c.114T>C (p.His38=) rs1482824230 0.00001
NM_003863.4(DPM2):c.144C>T (p.Ala48=) rs779110103 0.00001
NM_003863.4(DPM2):c.33C>T (p.Leu11=) rs781596486 0.00001
NM_003863.4(DPM2):c.93+13C>A rs772691262 0.00001
NM_003863.4(DPM2):c.94-8G>T rs773731630 0.00001
NM_004870.4(MPDU1):c.103+19C>T rs1320410758 0.00001
NM_004870.4(MPDU1):c.648C>T (p.Thr216=) rs760109502 0.00001
NM_005216.5(DDOST):c.1098C>T (p.Asp366=) rs777455786 0.00001
NM_005216.5(DDOST):c.1281C>T (p.Ile427=) rs923235061 0.00001
NM_005216.5(DDOST):c.168G>A (p.Glu56=) rs747449468 0.00001
NM_005216.5(DDOST):c.646-14C>T rs543407020 0.00001
NM_005216.5(DDOST):c.780G>A (p.Ala260=) rs961389384 0.00001
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005787.6(ALG3):c.240C>T (p.Gly80=) rs756013928 0.00001
NM_005787.6(ALG3):c.294T>A (p.Leu98=) rs200538695 0.00001
NM_005787.6(ALG3):c.605+9C>T rs1177025121 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.690G>A (p.Gly230=) rs755828168 0.00001
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs1174962210 0.00001
NM_012463.4(ATP6V0A2):c.1038+19C>T rs748475567 0.00001
NM_012463.4(ATP6V0A2):c.1158T>C (p.Tyr386=) rs751710968 0.00001
NM_012463.4(ATP6V0A2):c.1323A>G (p.Gln441=) rs985944979 0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924 0.00001
NM_012463.4(ATP6V0A2):c.1605+13C>T rs1031913267 0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853 0.00001
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=) rs1274398806 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=) rs1485624455 0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086 0.00001
NM_012463.4(ATP6V0A2):c.819C>G (p.Leu273=) rs760832828 0.00001
NM_012463.4(ATP6V0A2):c.853A>C (p.Arg285=) rs776563027 0.00001
NM_013339.4(ALG6):c.1005A>G (p.Ser335=) rs146094200 0.00001
NM_013339.4(ALG6):c.1029A>G (p.Val343=) rs776279526 0.00001
NM_013339.4(ALG6):c.1059-8G>T rs755900020 0.00001
NM_013339.4(ALG6):c.1092T>C (p.Phe364=) rs751867296 0.00001
NM_013339.4(ALG6):c.1116G>A (p.Val372=) rs774866544 0.00001
NM_013339.4(ALG6):c.1127+12C>A rs539762580 0.00001
NM_013339.4(ALG6):c.1128-11T>C rs760830321 0.00001
NM_013339.4(ALG6):c.1128-18A>T rs1057523181 0.00001
NM_013339.4(ALG6):c.1173T>G (p.Val391=) rs759859422 0.00001
NM_013339.4(ALG6):c.1275G>A (p.Val425=) rs1455501558 0.00001
NM_013339.4(ALG6):c.1320A>G (p.Gln440=) rs137918665 0.00001
NM_013339.4(ALG6):c.1327-16C>T rs1479573763 0.00001
NM_013339.4(ALG6):c.1327-4G>A rs1395718435 0.00001
NM_013339.4(ALG6):c.1341C>T (p.Val447=) rs777326636 0.00001
NM_013339.4(ALG6):c.1353G>C (p.Val451=) rs1346474951 0.00001
NM_013339.4(ALG6):c.1365G>A (p.Leu455=) rs772957444 0.00001
NM_013339.4(ALG6):c.1401G>A (p.Pro467=) rs149524560 0.00001
NM_013339.4(ALG6):c.1422G>A (p.Val474=) rs1644682242 0.00001
NM_013339.4(ALG6):c.1509G>A (p.Gln503=) rs368314781 0.00001
NM_013339.4(ALG6):c.150T>C (p.Asn50=) rs752563803 0.00001
NM_013339.4(ALG6):c.167+8A>G rs902593542 0.00001
NM_013339.4(ALG6):c.168-15T>A rs1213992277 0.00001
NM_013339.4(ALG6):c.208T>C (p.Leu70=) rs748752494 0.00001
NM_013339.4(ALG6):c.213T>C (p.Asp71=) rs1440836116 0.00001
NM_013339.4(ALG6):c.219A>T (p.Pro73=) rs187446493 0.00001
NM_013339.4(ALG6):c.258-15T>C rs1427230309 0.00001
NM_013339.4(ALG6):c.258-4G>C rs376611585 0.00001
NM_013339.4(ALG6):c.294T>C (p.His98=) rs1644480931 0.00001
NM_013339.4(ALG6):c.321A>G (p.Ala107=) rs766050737 0.00001
NM_013339.4(ALG6):c.342A>C (p.Thr114=) rs113591571 0.00001
NM_013339.4(ALG6):c.347-18A>G rs1388308664 0.00001
NM_013339.4(ALG6):c.366G>C (p.Leu122=) rs1368717618 0.00001
NM_013339.4(ALG6):c.429+7T>G rs1179620229 0.00001
NM_013339.4(ALG6):c.430-9T>G rs769256352 0.00001
NM_013339.4(ALG6):c.447C>T (p.Cys149=) rs1251724917 0.00001
NM_013339.4(ALG6):c.480C>T (p.Asp160=) rs1368642972 0.00001
NM_013339.4(ALG6):c.483T>C (p.Tyr161=) rs1275254106 0.00001
NM_013339.4(ALG6):c.494+15T>C rs777671830 0.00001
NM_013339.4(ALG6):c.495-14T>G rs1434021697 0.00001
NM_013339.4(ALG6):c.630T>C (p.Phe210=) rs1231951186 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013339.4(ALG6):c.680+14A>T rs531280238 0.00001
NM_013339.4(ALG6):c.681-8T>G rs754415021 0.00001
NM_013339.4(ALG6):c.693A>G (p.Leu231=) rs777520437 0.00001
NM_013339.4(ALG6):c.735C>T (p.Cys245=) rs1193951173 0.00001
NM_013339.4(ALG6):c.795G>A (p.Pro265=) rs144939122 0.00001
NM_013339.4(ALG6):c.798T>G (p.Val266=) rs1644519075 0.00001
NM_013339.4(ALG6):c.828C>G (p.Ala276=) rs1325407009 0.00001
NM_013339.4(ALG6):c.891A>G (p.Gln297=) rs759310974 0.00001
NM_013339.4(ALG6):c.902+15G>A rs1335275470 0.00001
NM_013339.4(ALG6):c.90T>C (p.Gly30=) rs768726497 0.00001
NM_013339.4(ALG6):c.925C>T (p.Leu309=) rs1311428677 0.00001
NM_014908.4(DOLK):c.1068G>A (p.Arg356=) rs371490482 0.00001
NM_014908.4(DOLK):c.1092T>G (p.Thr364=) rs1280785615 0.00001
NM_014908.4(DOLK):c.1098C>T (p.Cys366=) rs1588262054 0.00001
NM_014908.4(DOLK):c.1107C>T (p.Val369=) rs759148554 0.00001
NM_014908.4(DOLK):c.1143C>T (p.Ile381=) rs750733060 0.00001
NM_014908.4(DOLK):c.1167G>C (p.Arg389=) rs1475563721 0.00001
NM_014908.4(DOLK):c.1176G>A (p.Leu392=) rs1229430506 0.00001
NM_014908.4(DOLK):c.1434A>G (p.Thr478=) rs536315251 0.00001
NM_014908.4(DOLK):c.1467G>T (p.Leu489=) rs955285603 0.00001
NM_014908.4(DOLK):c.184C>A (p.Arg62=) rs533764998 0.00001
NM_014908.4(DOLK):c.24G>A (p.Pro8=) rs746403097 0.00001
NM_014908.4(DOLK):c.288G>A (p.Lys96=) rs771259120 0.00001
NM_014908.4(DOLK):c.453C>T (p.Ile151=) rs1249767230 0.00001
NM_014908.4(DOLK):c.48G>C (p.Leu16=) rs1841690217 0.00001
NM_014908.4(DOLK):c.501C>T (p.Val167=) rs372024402 0.00001
NM_014908.4(DOLK):c.679C>T (p.Leu227=) rs751806411 0.00001
NM_014908.4(DOLK):c.843G>A (p.Arg281=) rs1430371382 0.00001
NM_014908.4(DOLK):c.888C>G (p.Thr296=) rs1841669182 0.00001
NM_014908.4(DOLK):c.894C>T (p.Ile298=) rs554098531 0.00001
NM_014908.4(DOLK):c.906C>T (p.Ala302=) rs745571625 0.00001
NM_014908.4(DOLK):c.909T>C (p.Tyr303=) rs1244007975 0.00001
NM_014908.4(DOLK):c.90G>A (p.Val30=) rs766960135 0.00001
NM_014908.4(DOLK):c.916C>T (p.Leu306=) rs1290357070 0.00001
NM_014908.4(DOLK):c.94C>T (p.Leu32=) rs760999273 0.00001
NM_014908.4(DOLK):c.999C>T (p.Pro333=) rs764117689 0.00001
NM_019109.5(ALG1):c.1023C>T (p.Ile341=) rs1254998724 0.00001
NM_019109.5(ALG1):c.1029C>G (p.Val343=) rs1454696330 0.00001
NM_019109.5(ALG1):c.1032C>T (p.Cys344=) rs745523769 0.00001
NM_019109.5(ALG1):c.1072+14A>G rs1320606156 0.00001
NM_019109.5(ALG1):c.1084C>T (p.Leu362=) rs1366814290 0.00001
NM_019109.5(ALG1):c.1101C>T (p.His367=) rs1428414601 0.00001
NM_019109.5(ALG1):c.1104G>A (p.Thr368=) rs1315375927 0.00001
NM_019109.5(ALG1):c.1263+8C>T rs1442144835 0.00001
NM_019109.5(ALG1):c.126C>T (p.Asp42=) rs1203067807 0.00001
NM_019109.5(ALG1):c.1374C>T (p.Leu458=) rs776869363 0.00001
NM_019109.5(ALG1):c.138C>T (p.Ser46=) rs148665912 0.00001
NM_019109.5(ALG1):c.159G>C (p.Ala53=) rs776772780 0.00001
NM_019109.5(ALG1):c.201G>A (p.Gly67=) rs1377122958 0.00001
NM_019109.5(ALG1):c.208+13G>A rs794726945 0.00001
NM_019109.5(ALG1):c.219C>G (p.Pro73=) rs776610922 0.00001
NM_019109.5(ALG1):c.22C>T (p.Leu8=) rs144712188 0.00001
NM_019109.5(ALG1):c.259G>C (p.Gly87Arg) rs187287792 0.00001
NM_019109.5(ALG1):c.342G>A (p.Leu114=) rs1596252196 0.00001
NM_019109.5(ALG1):c.391-13C>G rs768190163 0.00001
NM_019109.5(ALG1):c.399A>C (p.Pro133=) rs200506666 0.00001
NM_019109.5(ALG1):c.540-15G>C rs1234821941 0.00001
NM_019109.5(ALG1):c.540-7T>G rs1475479052 0.00001
NM_019109.5(ALG1):c.543C>T (p.Tyr181=) rs375670899 0.00001
NM_019109.5(ALG1):c.630-10T>A rs774092984 0.00001
NM_019109.5(ALG1):c.729G>T (p.Pro243=) rs539568048 0.00001
NM_019109.5(ALG1):c.741-17T>C rs757946127 0.00001
NM_019109.5(ALG1):c.75C>G (p.Arg25=) rs369610043 0.00001
NM_019109.5(ALG1):c.765G>A (p.Thr255=) rs763065965 0.00001
NM_019109.5(ALG1):c.863-14T>C rs780024263 0.00001
NM_019109.5(ALG1):c.886C>T (p.Leu296=) rs760271727 0.00001
NM_019109.5(ALG1):c.902-12T>A rs781282806 0.00001
NM_019109.5(ALG1):c.962-20G>A rs748104106 0.00001
NM_019109.5(ALG1):c.978G>A (p.Arg326=) rs746218352 0.00001
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1491G>A (p.Val497=) rs766871884 0.00001
NM_024079.5(ALG8):c.1578A>G (p.Gln526=) rs479612 0.00001
NM_024079.5(ALG8):c.36T>C (p.Asn12=) rs1179361051 0.00001
NM_024079.5(ALG8):c.546+12T>G rs1169043575 0.00001
NM_024105.4(ALG12):c.117G>A (p.Leu39=) rs371814322 0.00001
NM_024105.4(ALG12):c.1182C>T (p.Asp394=) rs766969187 0.00001
NM_024105.4(ALG12):c.1224C>A (p.Val408=) rs146341718 0.00001
NM_024105.4(ALG12):c.1230C>T (p.Ser410=) rs779189579 0.00001
NM_024105.4(ALG12):c.1320C>G (p.Leu440=) rs2060528558 0.00001
NM_024105.4(ALG12):c.1359C>T (p.Ser453=) rs762256657 0.00001
NM_024105.4(ALG12):c.1390C>T (p.Leu464=) rs546031490 0.00001
NM_024105.4(ALG12):c.162+16T>G rs200452706 0.00001
NM_024105.4(ALG12):c.162+19C>T rs777484585 0.00001
NM_024105.4(ALG12):c.163-16G>C rs2060592313 0.00001
NM_024105.4(ALG12):c.258G>A (p.Ser86=) rs141223868 0.00001
NM_024105.4(ALG12):c.296-15A>G rs749576773 0.00001
NM_024105.4(ALG12):c.296-19T>G rs757545642 0.00001
NM_024105.4(ALG12):c.333C>T (p.Leu111=) rs776257312 0.00001
NM_024105.4(ALG12):c.339G>A (p.Thr113=) rs768442865 0.00001
NM_024105.4(ALG12):c.366C>T (p.Phe122=) rs1015611771 0.00001
NM_024105.4(ALG12):c.469+18G>A rs767540166 0.00001
NM_024105.4(ALG12):c.537C>T (p.Ala179=) rs1015991179 0.00001
NM_024105.4(ALG12):c.576C>T (p.Gly192=) rs763437728 0.00001
NM_024105.4(ALG12):c.690T>C (p.Tyr230=) rs750524007 0.00001
NM_024105.4(ALG12):c.873G>A (p.Pro291=) rs200080075 0.00001
NM_024105.4(ALG12):c.909C>T (p.Ser303=) rs768723868 0.00001
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527 0.00001
NM_024105.4(ALG12):c.951C>T (p.Phe317=) rs1480401201 0.00001
NM_024592.5(SRD5A3):c.221+10C>T rs777676728 0.00001
NM_024592.5(SRD5A3):c.480C>T (p.Val160=) rs797046008 0.00001
NM_024592.5(SRD5A3):c.837A>G (p.Leu279=) rs771882471 0.00001
NM_024740.2(ALG9):c.1134T>A (p.Leu378=) rs1375163899 0.00001
NM_024740.2(ALG9):c.1149C>T (p.Gly383=) rs1057521573 0.00001
NM_024740.2(ALG9):c.1251G>A (p.Ser417=) rs782372397 0.00001
NM_024740.2(ALG9):c.1392T>A (p.Thr464=) rs1461283997 0.00001
NM_033087.4(ALG2):c.1020A>G (p.Pro340=) rs762693196 0.00001
NM_033087.4(ALG2):c.1098G>A (p.Pro366=) rs562373747 0.00001
NM_033087.4(ALG2):c.117G>A (p.Ala39=) rs1353112014 0.00001
NM_033087.4(ALG2):c.12G>A (p.Glu4=) rs1036766977 0.00001
NM_033087.4(ALG2):c.183C>T (p.Ala61=) rs755793459 0.00001
NM_033087.4(ALG2):c.192C>T (p.Arg64=) rs367616427 0.00001
NM_033087.4(ALG2):c.198A>G (p.Leu66=) rs374316187 0.00001
NM_033087.4(ALG2):c.303G>A (p.Val101=) rs371910648 0.00001
NM_033087.4(ALG2):c.304C>T (p.Leu102=) rs749236548 0.00001
NM_033087.4(ALG2):c.33G>A (p.Ser11=) rs775776287 0.00001
NM_033087.4(ALG2):c.375G>A (p.Arg125=) rs1270655898 0.00001
NM_033087.4(ALG2):c.39C>G (p.Pro13=) rs746087117 0.00001
NM_033087.4(ALG2):c.402A>G (p.Leu134=) rs772364404 0.00001
NM_033087.4(ALG2):c.48G>C (p.Ser16=) rs199752563 0.00001
NM_033087.4(ALG2):c.571C>T (p.Leu191=) rs1828740241 0.00001
NM_033087.4(ALG2):c.663C>T (p.Pro221=) rs201126562 0.00001
NM_033087.4(ALG2):c.690C>T (p.Ser230=) rs368526201 0.00001
NM_033087.4(ALG2):c.699A>G (p.Arg233=) rs746932585 0.00001
NM_033087.4(ALG2):c.702C>T (p.Tyr234=) rs370457158 0.00001
NM_033087.4(ALG2):c.70C>T (p.Leu24=) rs143683491 0.00001
NM_033087.4(ALG2):c.894C>G (p.Thr298=) rs758885892 0.00001
NM_033087.4(ALG2):c.936C>T (p.Leu312=) rs753807667 0.00001
NM_052859.4(RFT1):c.*240T>C rs534506262 0.00001
NM_052859.4(RFT1):c.1074C>T (p.Tyr358=) rs762817759 0.00001
NM_052859.4(RFT1):c.1095A>G (p.Ser365=) rs759269012 0.00001
NM_052859.4(RFT1):c.1203C>T (p.Val401=) rs555227282 0.00001
NM_052859.4(RFT1):c.1208+20C>T rs1701244022 0.00001
NM_052859.4(RFT1):c.1209-4C>T rs1475575801 0.00001
NM_052859.4(RFT1):c.1269C>G (p.Thr423=) rs1271059666 0.00001
NM_052859.4(RFT1):c.1284C>T (p.Ser428=) rs773206764 0.00001
NM_052859.4(RFT1):c.132T>C (p.Val44=) rs1218035102 0.00001
NM_052859.4(RFT1):c.1377C>T (p.His459=) rs1406468804 0.00001
NM_052859.4(RFT1):c.1384C>T (p.Leu462=) rs1701022192 0.00001
NM_052859.4(RFT1):c.1407A>G (p.Pro469=) rs750985409 0.00001
NM_052859.4(RFT1):c.149+13G>A rs866873760 0.00001
NM_052859.4(RFT1):c.156G>A (p.Thr52=) rs775437985 0.00001
NM_052859.4(RFT1):c.201C>T (p.Arg67=) rs954135080 0.00001
NM_052859.4(RFT1):c.266+16G>T rs1275153388 0.00001
NM_052859.4(RFT1):c.492C>T (p.Ser164=) rs767438719 0.00001
NM_052859.4(RFT1):c.496C>T (p.Leu166=) rs751774742 0.00001
NM_052859.4(RFT1):c.516G>A (p.Leu172=) rs1290755219 0.00001
NM_052859.4(RFT1):c.555C>T (p.Ala185=) rs1183969513 0.00001
NM_052859.4(RFT1):c.559-6T>C rs1204891856 0.00001
NM_052859.4(RFT1):c.573A>C (p.Thr191=) rs528184485 0.00001
NM_052859.4(RFT1):c.63+8C>G rs1022161995 0.00001
NM_052859.4(RFT1):c.675A>G (p.Leu225=) rs1344235659 0.00001
NM_052859.4(RFT1):c.697-13T>G rs928587361 0.00001
NM_052859.4(RFT1):c.777C>T (p.Gly259=) rs752385816 0.00001
NM_052859.4(RFT1):c.969T>C (p.Ala323=) rs893435134 0.00001
NM_138459.5(NUS1):c.24G>A (p.Val8=) rs745434007 0.00001
NM_138459.5(NUS1):c.264C>T (p.Arg88=) rs959021329 0.00001
NM_138459.5(NUS1):c.279C>T (p.Ser93=) rs1298752813 0.00001
NM_138459.5(NUS1):c.330G>A (p.Gln110=) rs1414061827 0.00001
NM_138459.5(NUS1):c.354G>C (p.Ala118=) rs1456838164 0.00001
NM_138459.5(NUS1):c.378C>T (p.Ala126=) rs774571642 0.00001
NM_138459.5(NUS1):c.402C>T (p.Val134=) rs769107043 0.00001
NM_138459.5(NUS1):c.415+9C>T rs1772975415 0.00001
NM_138459.5(NUS1):c.416-10T>C rs751156157 0.00001
NM_138459.5(NUS1):c.416-9T>G rs1328227461 0.00001
NM_138459.5(NUS1):c.541+19T>C rs756091140 0.00001
NM_138459.5(NUS1):c.579G>A (p.Pro193=) rs753713015 0.00001
NM_138459.5(NUS1):c.672T>C (p.Asp224=) rs772889914 0.00001
NM_138459.5(NUS1):c.675G>A (p.Thr225=) rs763523987 0.00001
NM_138459.5(NUS1):c.691+13A>T rs1303197797 0.00001
NM_138459.5(NUS1):c.792-16C>T rs1049247260 0.00001
NM_138459.5(NUS1):c.792-17C>T rs146457283 0.00001
NM_138459.5(NUS1):c.798G>A (p.Leu266=) rs943172341 0.00001
NM_178862.3(STT3B):c.1071A>G (p.Val357=) rs976102255 0.00001
NM_178862.3(STT3B):c.1172+9A>C rs1401856785 0.00001
NM_178862.3(STT3B):c.153G>C (p.Pro51=) rs1352764626 0.00001
NM_178862.3(STT3B):c.171G>A (p.Gly57=) rs1430886809 0.00001
NM_178862.3(STT3B):c.2412G>A (p.Arg804=) rs1340679932 0.00001
NM_178862.3(STT3B):c.309C>T (p.Asp103=) rs763169035 0.00001
NM_178862.3(STT3B):c.390A>G (p.Ala130=) rs755782930 0.00001
NM_178862.3(STT3B):c.870C>G (p.Val290=) rs548334707 0.00001
NM_201400.4(EEF2KMT):c.*886C>G rs758181814 0.00001
NM_000303.3(PMM2):c.*1224C>A rs74008087
NM_000303.3(PMM2):c.105G>A (p.Leu35=)
NM_000303.3(PMM2):c.123C>T (p.Ile41=) rs751463681
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000303.3(PMM2):c.129G>T (p.Val43=) rs777608895
NM_000303.3(PMM2):c.135C>A (p.Gly45=) rs748980961
NM_000303.3(PMM2):c.156G>A (p.Val52=)
NM_000303.3(PMM2):c.156G>T (p.Val52=) rs2141017027
NM_000303.3(PMM2):c.15C>G (p.Gly5=)
NM_000303.3(PMM2):c.15C>T (p.Gly5=)
NM_000303.3(PMM2):c.162G>A (p.Glu54=) rs1596484153
NM_000303.3(PMM2):c.165A>G (p.Gln55=)
NM_000303.3(PMM2):c.168G>T (p.Leu56=) rs1013771553
NM_000303.3(PMM2):c.178+11G>C
NM_000303.3(PMM2):c.178+20T>G
NM_000303.3(PMM2):c.178+7G>A rs376829859
NM_000303.3(PMM2):c.179-12T>C
NM_000303.3(PMM2):c.179-13G>A
NM_000303.3(PMM2):c.179-20T>G
NM_000303.3(PMM2):c.179-4G>A
NM_000303.3(PMM2):c.179-6T>C rs2060637002
NM_000303.3(PMM2):c.179-7A>T rs2060636990
NM_000303.3(PMM2):c.179-8G>C
NM_000303.3(PMM2):c.18A>G (p.Pro6=)
NM_000303.3(PMM2):c.195T>C (p.Asp65=)
NM_000303.3(PMM2):c.207A>G (p.Pro69=) rs1053902842
NM_000303.3(PMM2):c.217T>C (p.Leu73=) rs1446327044
NM_000303.3(PMM2):c.21G>C (p.Ala7=) rs1333237246
NM_000303.3(PMM2):c.225A>G (p.Ala75=)
NM_000303.3(PMM2):c.234T>C (p.Asp78=) rs1186149338
NM_000303.3(PMM2):c.243C>T (p.Leu81=) rs1169352353
NM_000303.3(PMM2):c.244T>C (p.Leu82=) rs1399590258
NM_000303.3(PMM2):c.255+17C>G
NM_000303.3(PMM2):c.255+8C>T
NM_000303.3(PMM2):c.256-15A>T
NM_000303.3(PMM2):c.256-17G>T
NM_000303.3(PMM2):c.256-18_256-15del
NM_000303.3(PMM2):c.256-5T>C rs1430962288
NM_000303.3(PMM2):c.256-6A>C
NM_000303.3(PMM2):c.256-7C>T rs561075568
NM_000303.3(PMM2):c.264A>G (p.Gln88=) rs376597290
NM_000303.3(PMM2):c.270T>C (p.His90=)
NM_000303.3(PMM2):c.273G>A (p.Leu91=) rs2141019988
NM_000303.3(PMM2):c.279G>A (p.Glu93=)
NM_000303.3(PMM2):c.283C>T (p.Leu95=) rs2060647522
NM_000303.3(PMM2):c.285A>C (p.Leu95=) rs2141019992
NM_000303.3(PMM2):c.285A>T (p.Leu95=)
NM_000303.3(PMM2):c.288C>T (p.Ile96=)
NM_000303.3(PMM2):c.294T>C (p.Asp98=)
NM_000303.3(PMM2):c.295T>C (p.Leu99=)
NM_000303.3(PMM2):c.297A>G (p.Leu99=)
NM_000303.3(PMM2):c.300C>A (p.Ile100=)
NM_000303.3(PMM2):c.300C>T (p.Ile100=) rs747970886
NM_000303.3(PMM2):c.318C>T (p.Tyr106=) rs930344709
NM_000303.3(PMM2):c.324G>C (p.Ala108=)
NM_000303.3(PMM2):c.336C>G (p.Leu112=)
NM_000303.3(PMM2):c.339G>C (p.Pro113=)
NM_000303.3(PMM2):c.339G>T (p.Pro113=) rs149849259
NM_000303.3(PMM2):c.345G>A (p.Lys115=) rs2141020046
NM_000303.3(PMM2):c.347+15A>C rs751222355
NM_000303.3(PMM2):c.347+17C>T
NM_000303.3(PMM2):c.347+20A>G
NM_000303.3(PMM2):c.347+8T>C
NM_000303.3(PMM2):c.348-14C>T
NM_000303.3(PMM2):c.348-17C>T
NM_000303.3(PMM2):c.348-19G>A rs1057523353
NM_000303.3(PMM2):c.348-19_348-18del
NM_000303.3(PMM2):c.348-3del rs2141022947
NM_000303.3(PMM2):c.348-4C>T
NM_000303.3(PMM2):c.348-5C>A rs746660218
NM_000303.3(PMM2):c.348-5C>T rs746660218
NM_000303.3(PMM2):c.348-8A>C
NM_000303.3(PMM2):c.348-8A>T rs186061775
NM_000303.3(PMM2):c.348-9C>A rs1247908378
NM_000303.3(PMM2):c.354T>C (p.Thr118=) rs2141022957
NM_000303.3(PMM2):c.357C>T (p.Phe119=) rs80338701
NM_000303.3(PMM2):c.375G>A (p.Gly125=)
NM_000303.3(PMM2):c.375G>T (p.Gly125=)
NM_000303.3(PMM2):c.387G>A (p.Val129=) rs1310455453
NM_000303.3(PMM2):c.387G>C (p.Val129=)
NM_000303.3(PMM2):c.390C>G (p.Ser130=) rs763944822
NM_000303.3(PMM2):c.396T>A (p.Ile132=)
NM_000303.3(PMM2):c.396T>C (p.Ile132=) rs750388534
NM_000303.3(PMM2):c.399A>G (p.Gly133=) rs886043741
NM_000303.3(PMM2):c.405C>T (p.Ser135=)
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.444T>C (p.Asp148=) rs2141023076
NM_000303.3(PMM2):c.447+11C>A
NM_000303.3(PMM2):c.447+19T>A
NM_000303.3(PMM2):c.447+7C>A rs1365835297
NM_000303.3(PMM2):c.447+7C>G rs1365835297
NM_000303.3(PMM2):c.447+7C>T
NM_000303.3(PMM2):c.447+8T>C
NM_000303.3(PMM2):c.448-11G>A
NM_000303.3(PMM2):c.448-13_448-12del rs1000876069
NM_000303.3(PMM2):c.448-15T>C
NM_000303.3(PMM2):c.448-16T>C
NM_000303.3(PMM2):c.448-18T>A
NM_000303.3(PMM2):c.448-18T>C
NM_000303.3(PMM2):c.448-23_448-18del rs747968957
NM_000303.3(PMM2):c.45G>C (p.Gly15=) rs2141014144
NM_000303.3(PMM2):c.477A>G (p.Ala159=)
NM_000303.3(PMM2):c.483A>G (p.Leu161=)
NM_000303.3(PMM2):c.483A>T (p.Leu161=) rs1433032795
NM_000303.3(PMM2):c.486G>T (p.Arg162=)
NM_000303.3(PMM2):c.48C>A (p.Thr16=)
NM_000303.3(PMM2):c.507C>T (p.Gly169=) rs2141023382
NM_000303.3(PMM2):c.513G>C (p.Thr171=)
NM_000303.3(PMM2):c.51C>A (p.Leu17=) rs753546439
NM_000303.3(PMM2):c.51C>G (p.Leu17=)
NM_000303.3(PMM2):c.523+10A>G rs2141023411
NM_000303.3(PMM2):c.523+11T>C
NM_000303.3(PMM2):c.523+13T>C
NM_000303.3(PMM2):c.523+14T>C
NM_000303.3(PMM2):c.523+15G>A
NM_000303.3(PMM2):c.523+16C>G
NM_000303.3(PMM2):c.523+18T>A
NM_000303.3(PMM2):c.523+19G>C
NM_000303.3(PMM2):c.524-10C>T
NM_000303.3(PMM2):c.524-13C>G
NM_000303.3(PMM2):c.524-15G>C
NM_000303.3(PMM2):c.524-17C>A
NM_000303.3(PMM2):c.524-17C>T
NM_000303.3(PMM2):c.524-4G>T
NM_000303.3(PMM2):c.524-4del rs1315129289
NM_000303.3(PMM2):c.524-6del rs746143153
NM_000303.3(PMM2):c.524-7C>T rs2141024194
NM_000303.3(PMM2):c.524-9A>C rs2141024190
NM_000303.3(PMM2):c.528C>T (p.Gly176=)
NM_000303.3(PMM2):c.531G>A (p.Gln177=)
NM_000303.3(PMM2):c.534C>T (p.Ile178=)
NM_000303.3(PMM2):c.537C>T (p.Ser179=)
NM_000303.3(PMM2):c.54C>T (p.Thr18=)
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.558A>G (p.Gly186=)
NM_000303.3(PMM2):c.564C>T (p.Asp188=) rs2060686207
NM_000303.3(PMM2):c.567G>A (p.Lys189=)
NM_000303.3(PMM2):c.568A>C (p.Arg190=)
NM_000303.3(PMM2):c.585T>C (p.His195=) rs2141024274
NM_000303.3(PMM2):c.600T>A (p.Gly200=)
NM_000303.3(PMM2):c.603T>C (p.Tyr201=)
NM_000303.3(PMM2):c.609C>T (p.Thr203=)
NM_000303.3(PMM2):c.60G>A (p.Pro20=) rs2141014167
NM_000303.3(PMM2):c.615T>C (p.Tyr205=)
NM_000303.3(PMM2):c.618C>T (p.Phe206=) rs1460691341
NM_000303.3(PMM2):c.61C>A (p.Arg21=) rs758340382
NM_000303.3(PMM2):c.621T>C (p.Phe207=)
NM_000303.3(PMM2):c.633T>C (p.Thr211=) rs749542076
NM_000303.3(PMM2):c.639+19G>A
NM_000303.3(PMM2):c.639+8G>C
NM_000303.3(PMM2):c.639+9A>G
NM_000303.3(PMM2):c.63G>A (p.Arg21=)
NM_000303.3(PMM2):c.640-12G>C rs375325546
NM_000303.3(PMM2):c.640-17A>C
NM_000303.3(PMM2):c.640-23A>G rs981372486
NM_000303.3(PMM2):c.640-25_640-22dup rs1555453228
NM_000303.3(PMM2):c.640-4C>G
NM_000303.3(PMM2):c.651C>T (p.Asp217=) rs752614554
NM_000303.3(PMM2):c.66+10G>A rs747786171
NM_000303.3(PMM2):c.66+10_66+12del rs1213382634
NM_000303.3(PMM2):c.66+12C>T
NM_000303.3(PMM2):c.66+13C>T
NM_000303.3(PMM2):c.66+13_66+20del rs1596481910
NM_000303.3(PMM2):c.66+17G>A
NM_000303.3(PMM2):c.66+20C>G
NM_000303.3(PMM2):c.66+9C>A
NM_000303.3(PMM2):c.66+9C>T
NM_000303.3(PMM2):c.663C>T (p.Phe221=) rs199927358
NM_000303.3(PMM2):c.666A>G (p.Thr222=) rs770457654
NM_000303.3(PMM2):c.669C>T (p.Asp223=) rs104894531
NM_000303.3(PMM2):c.67-15T>C
NM_000303.3(PMM2):c.67-20T>C
NM_000303.3(PMM2):c.67-8A>G
NM_000303.3(PMM2):c.672C>T (p.Pro224=) rs2141051463
NM_000303.3(PMM2):c.678C>T (p.Thr226=) rs1480238805
NM_000303.3(PMM2):c.687C>T (p.Tyr229=)
NM_000303.3(PMM2):c.693G>T (p.Val231=)
NM_000303.3(PMM2):c.696A>G (p.Thr232=) rs2141051514
NM_000303.3(PMM2):c.705G>A (p.Glu235=)
NM_000303.3(PMM2):c.708C>T (p.Asp236=) rs752495420
NM_000303.3(PMM2):c.711G>C (p.Thr237=)
NM_000303.3(PMM2):c.714C>G (p.Arg238=) rs141562154
NM_000303.3(PMM2):c.720C>T (p.Ile240=)
NM_000303.3(PMM2):c.730C>T (p.Leu244=) rs1205209003
NM_000303.3(PMM2):c.732G>C (p.Leu244=) rs1164763496
NM_000303.3(PMM2):c.75C>G (p.Thr25=) rs1172729028
NM_000303.3(PMM2):c.78A>G (p.Lys26=)
NM_000303.3(PMM2):c.94C>T (p.Leu32=)
NM_000303.3(PMM2):c.96A>G (p.Leu32=)
NM_000303.3(PMM2):c.96A>T (p.Leu32=)
NM_000303.3(PMM2):c.9G>C (p.Ala3=) rs2060588329
NM_001004127.3(ALG11):c.1191C>T (p.Asn397=) rs141089354
NM_001004127.3(ALG11):c.18G>A (p.Arg6=) rs1393492365
NM_001004127.3(ALG11):c.306C>T (p.Thr102=)
NM_001004127.3(ALG11):c.309C>T (p.Gly103=)
NM_001004127.3(ALG11):c.402G>A (p.Arg134=) rs2140838895
NM_001004127.3(ALG11):c.44+14C>G
NM_001004127.3(ALG11):c.445C>T (p.Leu149=)
NM_001004127.3(ALG11):c.534C>T (p.Tyr178=)
NM_001004127.3(ALG11):c.612C>T (p.Thr204=)
NM_001004127.3(ALG11):c.678T>C (p.Asn226=) rs1593903157
NM_001004127.3(ALG11):c.6G>A (p.Ala2=)
NM_001099922.3(ALG13):c.1002C>T (p.Asp334=)
NM_001099922.3(ALG13):c.1005+10T>A
NM_001099922.3(ALG13):c.1005+13G>A
NM_001099922.3(ALG13):c.1005+14T>C
NM_001099922.3(ALG13):c.1006-16G>A
NM_001099922.3(ALG13):c.1006-18C>G
NM_001099922.3(ALG13):c.1006-19T>A
NM_001099922.3(ALG13):c.1019A>G (p.Tyr340Cys)
NM_001099922.3(ALG13):c.1027A>T (p.Ser343Cys)
NM_001099922.3(ALG13):c.1087+10G>A
NM_001099922.3(ALG13):c.1087+12C>T
NM_001099922.3(ALG13):c.1087+9A>C
NM_001099922.3(ALG13):c.1088-12T>A
NM_001099922.3(ALG13):c.1088-14C>T
NM_001099922.3(ALG13):c.1088-16A>T
NM_001099922.3(ALG13):c.1098C>T (p.Tyr366=)
NM_001099922.3(ALG13):c.1110T>C (p.Tyr370=)
NM_001099922.3(ALG13):c.1125T>C (p.Val375=)
NM_001099922.3(ALG13):c.1167A>G (p.Arg389=)
NM_001099922.3(ALG13):c.1176T>G (p.Ser392=)
NM_001099922.3(ALG13):c.1183A>C (p.Asn395His) rs1602694279
NM_001099922.3(ALG13):c.1185C>T (p.Asn395=)
NM_001099922.3(ALG13):c.1194T>C (p.Asn398=)
NM_001099922.3(ALG13):c.1221T>C (p.His407=) rs1602694489
NM_001099922.3(ALG13):c.1245G>A (p.Gln415=)
NM_001099922.3(ALG13):c.1250+14A>G
NM_001099922.3(ALG13):c.1251-18C>T
NM_001099922.3(ALG13):c.1251-4T>C rs1602705501
NM_001099922.3(ALG13):c.1260G>A (p.Glu420=)
NM_001099922.3(ALG13):c.126T>A (p.Gly42=)
NM_001099922.3(ALG13):c.12G>A (p.Val4=) rs781450458
NM_001099922.3(ALG13):c.1326+12T>C
NM_001099922.3(ALG13):c.1326+15A>G
NM_001099922.3(ALG13):c.1326+22del
NM_001099922.3(ALG13):c.135G>A (p.Thr45=)
NM_001099922.3(ALG13):c.135G>C (p.Thr45=)
NM_001099922.3(ALG13):c.1365G>A (p.Lys455=)
NM_001099922.3(ALG13):c.1435+12T>G
NM_001099922.3(ALG13):c.1435+15A>G
NM_001099922.3(ALG13):c.1435+16C>G rs2148153415
NM_001099922.3(ALG13):c.1435+19G>C
NM_001099922.3(ALG13):c.1436-11dup
NM_001099922.3(ALG13):c.1436-19C>A
NM_001099922.3(ALG13):c.1436-5A>G
NM_001099922.3(ALG13):c.1436-8T>C
NM_001099922.3(ALG13):c.1443A>G (p.Gln481=) rs374692571
NM_001099922.3(ALG13):c.1449T>C (p.Ser483=)
NM_001099922.3(ALG13):c.1461G>A (p.Glu487=)
NM_001099922.3(ALG13):c.1473A>G (p.Arg491=) rs1941545350
NM_001099922.3(ALG13):c.1500+12del
NM_001099922.3(ALG13):c.1500+13T>G
NM_001099922.3(ALG13):c.1501-12T>C
NM_001099922.3(ALG13):c.1501-18dup
NM_001099922.3(ALG13):c.1501-20T>C
NM_001099922.3(ALG13):c.1527T>C (p.Tyr509=)
NM_001099922.3(ALG13):c.1530T>C (p.Tyr510=)
NM_001099922.3(ALG13):c.1536T>C (p.Ala512=)
NM_001099922.3(ALG13):c.156T>C (p.Ser52=)
NM_001099922.3(ALG13):c.1590A>G (p.Glu530=)
NM_001099922.3(ALG13):c.1601+17T>G
NM_001099922.3(ALG13):c.1601+18T>G
NM_001099922.3(ALG13):c.1601+9A>G
NM_001099922.3(ALG13):c.1602-15C>A
NM_001099922.3(ALG13):c.1602-15C>T
NM_001099922.3(ALG13):c.1629A>G (p.Lys543=)
NM_001099922.3(ALG13):c.1632A>C (p.Pro544=)
NM_001099922.3(ALG13):c.1632A>G (p.Pro544=)
NM_001099922.3(ALG13):c.1638C>G (p.Thr546=) rs1602730496
NM_001099922.3(ALG13):c.1638C>T (p.Thr546=) rs1602730496
NM_001099922.3(ALG13):c.165G>A (p.Ser55=)
NM_001099922.3(ALG13):c.1674C>T (p.Pro558=) rs2148191123
NM_001099922.3(ALG13):c.1695C>T (p.Tyr565=)
NM_001099922.3(ALG13):c.1707T>C (p.Pro569=) rs1602730890
NM_001099922.3(ALG13):c.1722G>A (p.Pro574=)
NM_001099922.3(ALG13):c.1729+15G>A
NM_001099922.3(ALG13):c.1758G>A (p.Gln586=)
NM_001099922.3(ALG13):c.1803T>A (p.Thr601=)
NM_001099922.3(ALG13):c.1805T>C (p.Met602Thr)
NM_001099922.3(ALG13):c.1824C>T (p.Asp608=) rs761077008
NM_001099922.3(ALG13):c.1830C>G (p.Leu610=) rs771232900
NM_001099922.3(ALG13):c.1833C>T (p.Leu611=)
NM_001099922.3(ALG13):c.1845G>A (p.Leu615=)
NM_001099922.3(ALG13):c.1879A>G (p.Met627Val)
NM_001099922.3(ALG13):c.1938T>C (p.His646=)
NM_001099922.3(ALG13):c.1941A>G (p.Pro647=) rs1942135193
NM_001099922.3(ALG13):c.1968G>C (p.Gly656=)
NM_001099922.3(ALG13):c.1974C>T (p.Pro658=)
NM_001099922.3(ALG13):c.1976+11G>T
NM_001099922.3(ALG13):c.1976+14A>G
NM_001099922.3(ALG13):c.1976+16A>G
NM_001099922.3(ALG13):c.1976+20G>A rs1556507692
NM_001099922.3(ALG13):c.1976+20G>T
NM_001099922.3(ALG13):c.1976+8A>G
NM_001099922.3(ALG13):c.1977-17T>A
NM_001099922.3(ALG13):c.1977G>A (p.Arg659=) rs1942182184
NM_001099922.3(ALG13):c.1983A>G (p.Ser661=)
NM_001099922.3(ALG13):c.1983A>T (p.Ser661=) rs1241055923
NM_001099922.3(ALG13):c.1989G>A (p.Arg663=)
NM_001099922.3(ALG13):c.2052G>A (p.Arg684=)
NM_001099922.3(ALG13):c.2090+10G>T
NM_001099922.3(ALG13):c.2090+15G>A
NM_001099922.3(ALG13):c.2090+20_2090+23del
NM_001099922.3(ALG13):c.2090+22_2090+39del
NM_001099922.3(ALG13):c.2090+9T>C
NM_001099922.3(ALG13):c.2091-15T>C rs2148227986
NM_001099922.3(ALG13):c.2091-17T>C
NM_001099922.3(ALG13):c.2091-17T>G
NM_001099922.3(ALG13):c.2091-18T>C
NM_001099922.3(ALG13):c.2091-4T>G
NM_001099922.3(ALG13):c.2091-7A>T rs2148228043
NM_001099922.3(ALG13):c.2091-8C>G rs939425312
NM_001099922.3(ALG13):c.2108A>G (p.His703Arg)
NM_001099922.3(ALG13):c.2124T>C (p.Cys708=)
NM_001099922.3(ALG13):c.2133G>A (p.Lys711=)
NM_001099922.3(ALG13):c.2139C>A (p.Ser713=)
NM_001099922.3(ALG13):c.2142G>A (p.Gln714=) rs1602749741
NM_001099922.3(ALG13):c.2191A>G (p.Thr731Ala)
NM_001099922.3(ALG13):c.2193T>G (p.Thr731=)
NM_001099922.3(ALG13):c.2196T>A (p.Ile732=)
NM_001099922.3(ALG13):c.2199T>A (p.Thr733=)
NM_001099922.3(ALG13):c.21C>T (p.Thr7=) rs1446370125
NM_001099922.3(ALG13):c.2205T>C (p.Tyr735=) rs1060503802
NM_001099922.3(ALG13):c.2247+13A>G
NM_001099922.3(ALG13):c.2247+16C>T
NM_001099922.3(ALG13):c.2247+20A>G
NM_001099922.3(ALG13):c.2248-13C>G
NM_001099922.3(ALG13):c.2248-19G>A
NM_001099922.3(ALG13):c.2262C>T (p.Pro754=)
NM_001099922.3(ALG13):c.2265T>A (p.Ser755=)
NM_001099922.3(ALG13):c.2265T>C (p.Ser755=)
NM_001099922.3(ALG13):c.2280T>C (p.Ala760=) rs753759357
NM_001099922.3(ALG13):c.2283T>C (p.Thr761=)
NM_001099922.3(ALG13):c.2286A>G (p.Ser762=)
NM_001099922.3(ALG13):c.2304G>A (p.Arg768=)
NM_001099922.3(ALG13):c.2305C>T (p.Arg769Trp)
NM_001099922.3(ALG13):c.2328G>A (p.Gln776=)
NM_001099922.3(ALG13):c.2358G>T (p.Gln786His)
NM_001099922.3(ALG13):c.2368+13_2368+14del rs1942292917
NM_001099922.3(ALG13):c.2368+20A>G
NM_001099922.3(ALG13):c.2369-15G>A
NM_001099922.3(ALG13):c.2369-15_2369-11del
NM_001099922.3(ALG13):c.2369-17T>C
NM_001099922.3(ALG13):c.2369-20G>A
NM_001099922.3(ALG13):c.2373A>G (p.Arg791=) rs1006542504
NM_001099922.3(ALG13):c.2373A>T (p.Arg791=) rs1006542504
NM_001099922.3(ALG13):c.2401+20G>C
NM_001099922.3(ALG13):c.2401+9G>A
NM_001099922.3(ALG13):c.2402-11A>G
NM_001099922.3(ALG13):c.2402-14G>T
NM_001099922.3(ALG13):c.2402-20A>G
NM_001099922.3(ALG13):c.2402-6C>T
NM_001099922.3(ALG13):c.2415A>G (p.Glu805=)
NM_001099922.3(ALG13):c.2427T>C (p.Val809=)
NM_001099922.3(ALG13):c.2436A>G (p.Thr812=)
NM_001099922.3(ALG13):c.244+12T>C
NM_001099922.3(ALG13):c.244+15G>C rs1933641836
NM_001099922.3(ALG13):c.244+20T>G
NM_001099922.3(ALG13):c.2442A>G (p.Ala814=)
NM_001099922.3(ALG13):c.2448A>G (p.Thr816=) rs2148264402
NM_001099922.3(ALG13):c.245-10A>G
NM_001099922.3(ALG13):c.245-12T>A rs773672059
NM_001099922.3(ALG13):c.245-17T>C rs1934554117
NM_001099922.3(ALG13):c.245-7T>C
NM_001099922.3(ALG13):c.245-8A>G
NM_001099922.3(ALG13):c.2457+13T>A
NM_001099922.3(ALG13):c.2457+14A>G
NM_001099922.3(ALG13):c.2457+15_2457+17del rs761459857
NM_001099922.3(ALG13):c.2457+18G>C
NM_001099922.3(ALG13):c.2458-10T>G
NM_001099922.3(ALG13):c.2458-4A>G
NM_001099922.3(ALG13):c.2500A>G (p.Thr834Ala) rs1943107956
NM_001099922.3(ALG13):c.2520C>T (p.Tyr840=) rs1943109899
NM_001099922.3(ALG13):c.2523C>A (p.Pro841=)
NM_001099922.3(ALG13):c.2523C>G (p.Pro841=) rs1229717685
NM_001099922.3(ALG13):c.2529+12A>T
NM_001099922.3(ALG13):c.2530-11C>T
NM_001099922.3(ALG13):c.2530-15C>T
NM_001099922.3(ALG13):c.2530-16T>C
NM_001099922.3(ALG13):c.2531T>C (p.Met844Thr) rs2148330955
NM_001099922.3(ALG13):c.2547A>T (p.Ala849=)
NM_001099922.3(ALG13):c.2550A>C (p.Ala850=)
NM_001099922.3(ALG13):c.2598C>T (p.Asn866=)
NM_001099922.3(ALG13):c.261G>A (p.Leu87=)
NM_001099922.3(ALG13):c.2670A>G (p.Val890=)
NM_001099922.3(ALG13):c.268C>T (p.Leu90=)
NM_001099922.3(ALG13):c.2695+15G>A
NM_001099922.3(ALG13):c.2695+16A>C
NM_001099922.3(ALG13):c.2695+9T>C
NM_001099922.3(ALG13):c.2696-19T>C rs2148402568
NM_001099922.3(ALG13):c.2705C>T (p.Ser902Leu)
NM_001099922.3(ALG13):c.2748C>G (p.Ala916=)
NM_001099922.3(ALG13):c.2753T>C (p.Leu918Pro)
NM_001099922.3(ALG13):c.2754ACC[10] (p.Pro941_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[11] (p.Pro942_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[12] (p.Pro943_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[17] (p.Pro944_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[18] (p.Pro943_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2757A>C (p.Pro919=) rs2148403524
NM_001099922.3(ALG13):c.2760A>C (p.Pro920=)
NM_001099922.3(ALG13):c.2760A>G (p.Pro920=) rs2148403613
NM_001099922.3(ALG13):c.2763A>C (p.Pro921=) rs1602887961
NM_001099922.3(ALG13):c.2766A>C (p.Pro922=) rs1944064025
NM_001099922.3(ALG13):c.2766A>G (p.Pro922=)
NM_001099922.3(ALG13):c.2769A>C (p.Pro923=) rs1602888164
NM_001099922.3(ALG13):c.2772A>C (p.Pro924=) rs1204623641
NM_001099922.3(ALG13):c.2772A>G (p.Pro924=)
NM_001099922.3(ALG13):c.2775A>C (p.Pro925=) rs1285221362
NM_001099922.3(ALG13):c.2778A>C (p.Pro926=) rs1218547242
NM_001099922.3(ALG13):c.2781A>C (p.Pro927=) rs147870070
NM_001099922.3(ALG13):c.2784A>C (p.Pro928=) rs1602888630
NM_001099922.3(ALG13):c.2787A>C (p.Pro929=) rs772431643
NM_001099922.3(ALG13):c.2790A>C (p.Pro930=) rs1602888750
NM_001099922.3(ALG13):c.2790A>G (p.Pro930=)
NM_001099922.3(ALG13):c.2790A>T (p.Pro930=)
NM_001099922.3(ALG13):c.2790_2801del (p.Pro942_Pro945del) rs1944071710
NM_001099922.3(ALG13):c.2792_2793insTCC (p.Pro945_Ala946insPro)
NM_001099922.3(ALG13):c.2793A>C (p.Pro931=) rs1325128061
NM_001099922.3(ALG13):c.2793A>T (p.Pro931=)
NM_001099922.3(ALG13):c.2793_2801del (p.Pro943_Pro945del) rs1944073301
NM_001099922.3(ALG13):c.2793_2801dup (p.Pro945_Ala946insProProPro)
NM_001099922.3(ALG13):c.2795_2796insTCC (p.Pro945dup) rs1944074283
NM_001099922.3(ALG13):c.2796A>C (p.Pro932=)
NM_001099922.3(ALG13):c.2796_2801del (p.Pro944_Pro945del) rs1468160803
NM_001099922.3(ALG13):c.2796_2804del (p.Pro943_Pro945del) rs2148404715
NM_001099922.3(ALG13):c.2796_2807del (p.Pro942_Pro945del)
NM_001099922.3(ALG13):c.2796_2810del (p.Pro941_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[10] (p.Pro943_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[15] (p.Pro944_Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[16] (p.Pro943_Pro945dup) rs56717389
NM_001099922.3(ALG13):c.2797CCT[8] (p.Pro941_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2798_2799insACCACCTCC (p.Pro943_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2798_2799insACCTCCTCC (p.Pro943_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2799T>C (p.Pro933=)
NM_001099922.3(ALG13):c.27G>A (p.Gly9=)
NM_001099922.3(ALG13):c.2802T>C (p.Pro934=)
NM_001099922.3(ALG13):c.2814T>A (p.Pro938=)
NM_001099922.3(ALG13):c.2820T>A (p.Pro940=)
NM_001099922.3(ALG13):c.2820T>G (p.Pro940=) rs765365972
NM_001099922.3(ALG13):c.2821_2841del (p.Pro941_Leu947del)
NM_001099922.3(ALG13):c.2835T>C (p.Pro945=)
NM_001099922.3(ALG13):c.2866C>G (p.Gln956Glu)
NM_001099922.3(ALG13):c.2874A>G (p.Pro958=)
NM_001099922.3(ALG13):c.2877A>G (p.Pro959=)
NM_001099922.3(ALG13):c.2883A>G (p.Leu961=) rs370500067
NM_001099922.3(ALG13):c.2892A>G (p.Pro964=) rs1556523067
NM_001099922.3(ALG13):c.2910A>G (p.Pro970=)
NM_001099922.3(ALG13):c.2932+16G>A
NM_001099922.3(ALG13):c.2932+16_2932+30del
NM_001099922.3(ALG13):c.2932+19T>G
NM_001099922.3(ALG13):c.2932+22_2932+41del
NM_001099922.3(ALG13):c.2932+6_2932+7insC
NM_001099922.3(ALG13):c.2932+8G>T
NM_001099922.3(ALG13):c.2932+9_2932+10insCGCTTTTT
NM_001099922.3(ALG13):c.2933-15G>C
NM_001099922.3(ALG13):c.294G>T (p.Val98=)
NM_001099922.3(ALG13):c.2967A>G (p.Gly989=) rs1944879675
NM_001099922.3(ALG13):c.2973+9C>T
NM_001099922.3(ALG13):c.2974-10C>T rs1426077854
NM_001099922.3(ALG13):c.2974-17G>A
NM_001099922.3(ALG13):c.2974-4C>T
NM_001099922.3(ALG13):c.2991C>T (p.Tyr997=)
NM_001099922.3(ALG13):c.3012G>A (p.Val1004=)
NM_001099922.3(ALG13):c.3015A>T (p.Pro1005=)
NM_001099922.3(ALG13):c.3048T>C (p.Tyr1016=)
NM_001099922.3(ALG13):c.3054C>G (p.Val1018=)
NM_001099922.3(ALG13):c.3066A>G (p.Pro1022=)
NM_001099922.3(ALG13):c.3070C>T (p.Leu1024=)
NM_001099922.3(ALG13):c.3072G>C (p.Leu1024=)
NM_001099922.3(ALG13):c.30C>T (p.Thr10=)
NM_001099922.3(ALG13):c.3117A>G (p.Glu1039=) rs2148514625
NM_001099922.3(ALG13):c.3120T>C (p.Asp1040=) rs2148514681
NM_001099922.3(ALG13):c.3123C>T (p.Gly1041=)
NM_001099922.3(ALG13):c.3148+7G>A
NM_001099922.3(ALG13):c.3148+7G>C
NM_001099922.3(ALG13):c.3149-11C>T
NM_001099922.3(ALG13):c.3149-12C>T rs1603002604
NM_001099922.3(ALG13):c.3149-14A>G
NM_001099922.3(ALG13):c.3149-16A>G
NM_001099922.3(ALG13):c.3149-18A>G rs1340748910
NM_001099922.3(ALG13):c.3149-19T>C
NM_001099922.3(ALG13):c.3149-9T>C
NM_001099922.3(ALG13):c.3156T>C (p.Phe1052=)
NM_001099922.3(ALG13):c.3195C>G (p.Val1065=)
NM_001099922.3(ALG13):c.3221A>G (p.Tyr1074Cys) rs372990620
NM_001099922.3(ALG13):c.3221A>T (p.Tyr1074Phe) rs372990620
NM_001099922.3(ALG13):c.3267G>A (p.Val1089=)
NM_001099922.3(ALG13):c.3279C>A (p.Ser1093=)
NM_001099922.3(ALG13):c.3291C>G (p.Pro1097=) rs1329885117
NM_001099922.3(ALG13):c.3321T>C (p.Gly1107=) rs2148531912
NM_001099922.3(ALG13):c.3324T>G (p.Ser1108=)
NM_001099922.3(ALG13):c.3327T>G (p.Ser1109=) rs2148532070
NM_001099922.3(ALG13):c.3330A>G (p.Gln1110=) rs761412613
NM_001099922.3(ALG13):c.3330A>T (p.Gln1110His)
NM_001099922.3(ALG13):c.334C>T (p.Leu112=)
NM_001099922.3(ALG13):c.3372T>C (p.Ala1124=)
NM_001099922.3(ALG13):c.33C>G (p.Thr11=)
NM_001099922.3(ALG13):c.348A>G (p.Leu116=)
NM_001099922.3(ALG13):c.354A>G (p.Lys118=) rs1569510723
NM_001099922.3(ALG13):c.362A>G (p.His121Arg)
NM_001099922.3(ALG13):c.36C>T (p.Ser12=)
NM_001099922.3(ALG13):c.372T>C (p.Tyr124=)
NM_001099922.3(ALG13):c.383+13C>A
NM_001099922.3(ALG13):c.383+14_383+15del
NM_001099922.3(ALG13):c.383+16A>G rs2147695492
NM_001099922.3(ALG13):c.383+16ATT[2]
NM_001099922.3(ALG13):c.383+17T>C
NM_001099922.3(ALG13):c.384-10_384-8del
NM_001099922.3(ALG13):c.384-12T>G
NM_001099922.3(ALG13):c.384-15C>T
NM_001099922.3(ALG13):c.384-17T>C
NM_001099922.3(ALG13):c.399T>C (p.Pro133=)
NM_001099922.3(ALG13):c.432G>A (p.Gly144=)
NM_001099922.3(ALG13):c.432G>C (p.Gly144=)
NM_001099922.3(ALG13):c.453G>A (p.Ala151=)
NM_001099922.3(ALG13):c.498C>T (p.Ser166=)
NM_001099922.3(ALG13):c.516A>G (p.Gln172=)
NM_001099922.3(ALG13):c.534C>T (p.Thr178=) rs2147997341
NM_001099922.3(ALG13):c.554T>G (p.Leu185Arg) rs1939121243
NM_001099922.3(ALG13):c.594C>T (p.Thr198=) rs2147998048
NM_001099922.3(ALG13):c.597C>G (p.Pro199=)
NM_001099922.3(ALG13):c.60G>A (p.Val20=) rs2147594318
NM_001099922.3(ALG13):c.646T>C (p.Ser216Pro) rs2147998626
NM_001099922.3(ALG13):c.66G>A (p.Ala22=)
NM_001099922.3(ALG13):c.681C>G (p.Gly227=) rs1939140318
NM_001099922.3(ALG13):c.684C>T (p.Ser228=)
NM_001099922.3(ALG13):c.69C>G (p.Pro23=)
NM_001099922.3(ALG13):c.729C>T (p.Leu243=)
NM_001099922.3(ALG13):c.750+14A>G
NM_001099922.3(ALG13):c.750+16_750+17del
NM_001099922.3(ALG13):c.750+17T>C
NM_001099922.3(ALG13):c.751-11C>T rs1569515614
NM_001099922.3(ALG13):c.751-19G>T rs2148005083
NM_001099922.3(ALG13):c.751-6T>C rs2148005349
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001099922.3(ALG13):c.756T>C (p.Phe252=) rs915629293
NM_001099922.3(ALG13):c.774T>C (p.His258=)
NM_001099922.3(ALG13):c.792T>G (p.Ala264=)
NM_001099922.3(ALG13):c.795T>C (p.Cys265=) rs2148005716
NM_001099922.3(ALG13):c.81+13G>A
NM_001099922.3(ALG13):c.81+16G>A
NM_001099922.3(ALG13):c.81+18G>A
NM_001099922.3(ALG13):c.81+20A>C
NM_001099922.3(ALG13):c.81+7G>A
NM_001099922.3(ALG13):c.81+7G>T
NM_001099922.3(ALG13):c.81+9G>A
NM_001099922.3(ALG13):c.81+9G>T rs2147595118
NM_001099922.3(ALG13):c.834+14A>T
NM_001099922.3(ALG13):c.834+20del
NM_001099922.3(ALG13):c.834+8G>C
NM_001099922.3(ALG13):c.835-15G>C
NM_001099922.3(ALG13):c.837T>C (p.Tyr279=)
NM_001099922.3(ALG13):c.870G>A (p.Arg290=)
NM_001099922.3(ALG13):c.871T>C (p.Leu291=)
NM_001099922.3(ALG13):c.885+13A>G
NM_001099922.3(ALG13):c.885+16G>A
NM_001099922.3(ALG13):c.886-13T>C rs2148043429
NM_001099922.3(ALG13):c.886-15A>G rs2148043391
NM_001099922.3(ALG13):c.886-16C>T rs780688383
NM_001099922.3(ALG13):c.886-6G>A
NM_001099922.3(ALG13):c.886-7T>C rs1556488604
NM_001099922.3(ALG13):c.886-8A>T
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn) rs1939938682
NM_001099922.3(ALG13):c.894T>C (p.Ala298=)
NM_001099922.3(ALG13):c.918T>G (p.Leu306=)
NM_001099922.3(ALG13):c.932+13C>T
NM_001099922.3(ALG13):c.932+14T>C
NM_001099922.3(ALG13):c.932+16T>C
NM_001099922.3(ALG13):c.932+8A>G rs2148044353
NM_001099922.3(ALG13):c.933-20C>T
NM_001099922.3(ALG13):c.933-7C>T rs2148052573
NM_001099922.3(ALG13):c.984A>G (p.Thr328=)
NM_001099922.3(ALG13):c.999A>G (p.Glu333=)
NM_001382.4(DPAGT1):c.1006-6C>T rs2134898608
NM_001382.4(DPAGT1):c.1044T>C (p.Ser348=)
NM_001382.4(DPAGT1):c.1050T>G (p.Thr350=)
NM_001382.4(DPAGT1):c.1059T>G (p.Gly353=) rs1946413563
NM_001382.4(DPAGT1):c.1101A>T (p.Leu367=) rs1442358846
NM_001382.4(DPAGT1):c.1158G>A (p.Leu386=) rs2134897849
NM_001382.4(DPAGT1):c.1161+15C>T rs775825050
NM_001382.4(DPAGT1):c.1161+18G>A
NM_001382.4(DPAGT1):c.1161+9G>A rs1946410715
NM_001382.4(DPAGT1):c.1162-14A>G
NM_001382.4(DPAGT1):c.1164C>A (p.Ile388=)
NM_001382.4(DPAGT1):c.161+13A>G
NM_001382.4(DPAGT1):c.161+16C>T
NM_001382.4(DPAGT1):c.161+9C>T
NM_001382.4(DPAGT1):c.162-12G>A
NM_001382.4(DPAGT1):c.162-12G>C
NM_001382.4(DPAGT1):c.162-15G>A
NM_001382.4(DPAGT1):c.162-16T>C rs2134916538
NM_001382.4(DPAGT1):c.162-18C>G rs764930301
NM_001382.4(DPAGT1):c.162-18C>T
NM_001382.4(DPAGT1):c.162-20C>G rs749879111
NM_001382.4(DPAGT1):c.222C>T (p.Ile74=)
NM_001382.4(DPAGT1):c.276C>T (p.His92=) rs931405073
NM_001382.4(DPAGT1):c.282+12C>T
NM_001382.4(DPAGT1):c.282+17G>A rs1236626939
NM_001382.4(DPAGT1):c.282+20T>C
NM_001382.4(DPAGT1):c.283-13G>A
NM_001382.4(DPAGT1):c.283-5C>T
NM_001382.4(DPAGT1):c.342G>C (p.Ala114=)
NM_001382.4(DPAGT1):c.348T>C (p.Asp116=) rs200885014
NM_001382.4(DPAGT1):c.441G>A (p.Thr147=)
NM_001382.4(DPAGT1):c.444C>T (p.Thr148=)
NM_001382.4(DPAGT1):c.453G>A (p.Val151=)
NM_001382.4(DPAGT1):c.462C>T (p.Pro154=)
NM_001382.4(DPAGT1):c.48C>T (p.Ile16=) rs1020413992
NM_001382.4(DPAGT1):c.497-4G>A rs771175893
NM_001382.4(DPAGT1):c.497-4G>C rs771175893
NM_001382.4(DPAGT1):c.637T>C (p.Leu213=)
NM_001382.4(DPAGT1):c.643+17G>C
NM_001382.4(DPAGT1):c.644-12T>G
NM_001382.4(DPAGT1):c.644-18_644-15del rs750678639
NM_001382.4(DPAGT1):c.645T>C (p.Gly215=) rs2134903738
NM_001382.4(DPAGT1):c.663T>C (p.His221=) rs755080683
NM_001382.4(DPAGT1):c.669T>C (p.Phe223=)
NM_001382.4(DPAGT1):c.678C>T (p.Tyr226=) rs1592226752
NM_001382.4(DPAGT1):c.693T>C (p.Phe231=)
NM_001382.4(DPAGT1):c.729-16C>G
NM_001382.4(DPAGT1):c.729-16C>T
NM_001382.4(DPAGT1):c.735A>G (p.Pro245=) rs1946429703
NM_001382.4(DPAGT1):c.744G>A (p.Val248=)
NM_001382.4(DPAGT1):c.789C>T (p.Ala263=)
NM_001382.4(DPAGT1):c.810C>T (p.His270=) rs1946427343
NM_001382.4(DPAGT1):c.81C>G (p.Thr27=) rs145055477
NM_001382.4(DPAGT1):c.822C>T (p.Thr274=) rs756625547
NM_001382.4(DPAGT1):c.879C>T (p.Leu293=) rs1592226120
NM_001382.4(DPAGT1):c.888C>T (p.Ile296=)
NM_001382.4(DPAGT1):c.917+7G>A
NM_001382.4(DPAGT1):c.918-15A>G
NM_001382.4(DPAGT1):c.930G>A (p.Lys310=) rs2134899492
NM_001382.4(DPAGT1):c.993C>T (p.Thr331=) rs1946418951
NM_001382.4(DPAGT1):c.9C>T (p.Ala3=)
NM_002435.3(MPI):c.1008A>C (p.Ser336=)
NM_002435.3(MPI):c.1008A>T (p.Ser336=) rs2141208646
NM_002435.3(MPI):c.1017C>T (p.Asp339=)
NM_002435.3(MPI):c.1020C>T (p.Pro340=) rs2141208695
NM_002435.3(MPI):c.1053+14T>C
NM_002435.3(MPI):c.1053+16T>C
NM_002435.3(MPI):c.1053+20G>C
NM_002435.3(MPI):c.1054-11T>C
NM_002435.3(MPI):c.1054-17_1054-15del
NM_002435.3(MPI):c.1054-6G>A
NM_002435.3(MPI):c.1054-7T>C rs2141209464
NM_002435.3(MPI):c.1054-8C>G rs2141209458
NM_002435.3(MPI):c.1054-9C>T
NM_002435.3(MPI):c.1062C>T (p.Gly354=)
NM_002435.3(MPI):c.1074A>G (p.Glu358=) rs2141209541
NM_002435.3(MPI):c.1083C>T (p.Val361=)
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.1095C>T (p.Asp365=) rs2064840337
NM_002435.3(MPI):c.1098T>G (p.Ser366=)
NM_002435.3(MPI):c.1111C>T (p.Leu371=) rs1403486851
NM_002435.3(MPI):c.1113G>A (p.Leu371=) rs2141209616
NM_002435.3(MPI):c.1113G>T (p.Leu371=)
NM_002435.3(MPI):c.1122G>A (p.Gln374=)
NM_002435.3(MPI):c.1137C>T (p.Ala379=) rs2141209695
NM_002435.3(MPI):c.1140C>T (p.Ser380=) rs2141209705
NM_002435.3(MPI):c.1143A>C (p.Thr381=) rs1595824783
NM_002435.3(MPI):c.1152C>G (p.Thr384=)
NM_002435.3(MPI):c.1152C>T (p.Thr384=) rs2064841631
NM_002435.3(MPI):c.1170G>A (p.Leu390=)
NM_002435.3(MPI):c.1170G>C (p.Leu390=)
NM_002435.3(MPI):c.1170G>T (p.Leu390=)
NM_002435.3(MPI):c.1173A>G (p.Gln391=)
NM_002435.3(MPI):c.1179T>C (p.Gly393=)
NM_002435.3(MPI):c.1188C>G (p.Leu396=)
NM_002435.3(MPI):c.1188C>T (p.Leu396=)
NM_002435.3(MPI):c.1197G>A (p.Gly399=) rs2064842732
NM_002435.3(MPI):c.1212C>T (p.Val404=) rs2064843052
NM_002435.3(MPI):c.1216C>T (p.Leu406=) rs1268364682
NM_002435.3(MPI):c.1224T>A (p.Leu408=)
NM_002435.3(MPI):c.1227T>C (p.Thr409=)
NM_002435.3(MPI):c.1233G>T (p.Pro411=) rs746867428
NM_002435.3(MPI):c.1236G>A (p.Lys412=) rs2141209962
NM_002435.3(MPI):c.1263T>C (p.Cys421=)
NM_002435.3(MPI):c.1264C>T (p.Leu422=)
NM_002435.3(MPI):c.1266G>C (p.Leu422=) rs779158025
NM_002435.3(MPI):c.1267C>T (p.Leu423=) rs2141210022
NM_002435.3(MPI):c.1269G>C (p.Leu423=) rs371664469
NM_002435.3(MPI):c.126G>A (p.Glu42=)
NM_002435.3(MPI):c.129C>T (p.Asp43=) rs2141196159
NM_002435.3(MPI):c.138T>C (p.Tyr46=) rs2141196187
NM_002435.3(MPI):c.141A>G (p.Ala47=)
NM_002435.3(MPI):c.144+10G>A rs2064712214
NM_002435.3(MPI):c.144+13C>T
NM_002435.3(MPI):c.144+15G>A
NM_002435.3(MPI):c.144+19T>G
NM_002435.3(MPI):c.144+20T>C
NM_002435.3(MPI):c.144+7C>T
NM_002435.3(MPI):c.145-10G>A
NM_002435.3(MPI):c.145-13C>T
NM_002435.3(MPI):c.145-5T>C
NM_002435.3(MPI):c.145-9T>C rs2141197441
NM_002435.3(MPI):c.156G>A (p.Gly52=) rs2141197487
NM_002435.3(MPI):c.159T>C (p.Thr53=)
NM_002435.3(MPI):c.16+11G>A
NM_002435.3(MPI):c.16+13C>T
NM_002435.3(MPI):c.16+15G>A
NM_002435.3(MPI):c.16+15G>C
NM_002435.3(MPI):c.16+15G>T
NM_002435.3(MPI):c.16+17G>A
NM_002435.3(MPI):c.16+17G>C
NM_002435.3(MPI):c.16+18G>T
NM_002435.3(MPI):c.16+7C>T
NM_002435.3(MPI):c.16+8A>T
NM_002435.3(MPI):c.17-12C>G
NM_002435.3(MPI):c.17-13T>C
NM_002435.3(MPI):c.17-4C>G
NM_002435.3(MPI):c.171G>A (p.Gly57=)
NM_002435.3(MPI):c.177C>A (p.Ala59=)
NM_002435.3(MPI):c.177C>T (p.Ala59=) rs2064724687
NM_002435.3(MPI):c.180G>A (p.Lys60=)
NM_002435.3(MPI):c.204G>A (p.Gln68=)
NM_002435.3(MPI):c.207G>A (p.Lys69=)
NM_002435.3(MPI):c.225T>C (p.Ile75=)
NM_002435.3(MPI):c.231G>A (p.Glu77=)
NM_002435.3(MPI):c.246G>A (p.Leu82=)
NM_002435.3(MPI):c.249C>A (p.Gly83=) rs146863816
NM_002435.3(MPI):c.249C>T (p.Gly83=)
NM_002435.3(MPI):c.258C>T (p.Val86=) rs2141197661
NM_002435.3(MPI):c.282G>C (p.Leu94=) rs2141197716
NM_002435.3(MPI):c.288C>T (p.Phe96=) rs2064726439
NM_002435.3(MPI):c.303C>G (p.Leu101=)
NM_002435.3(MPI):c.306A>G (p.Ser102=) rs2141197776
NM_002435.3(MPI):c.315A>C (p.Thr105=) rs755946117
NM_002435.3(MPI):c.315A>T (p.Thr105=)
NM_002435.3(MPI):c.319C>T (p.Leu107=) rs2064727157
NM_002435.3(MPI):c.324C>T (p.Ser108=) rs2141197827
NM_002435.3(MPI):c.342C>T (p.Asn114=)
NM_002435.3(MPI):c.345+15_345+16delinsAT rs1064794476
NM_002435.3(MPI):c.345+17G>A
NM_002435.3(MPI):c.345+19T>C
NM_002435.3(MPI):c.346-10C>G
NM_002435.3(MPI):c.346-12G>A
NM_002435.3(MPI):c.346-15C>T
NM_002435.3(MPI):c.346-16C>T
NM_002435.3(MPI):c.346-18C>A
NM_002435.3(MPI):c.346-5C>T
NM_002435.3(MPI):c.346-8C>T rs906781914
NM_002435.3(MPI):c.351G>A (p.Leu117=)
NM_002435.3(MPI):c.360G>A (p.Lys120=)
NM_002435.3(MPI):c.363G>A (p.Leu121=) rs879379479
NM_002435.3(MPI):c.366C>T (p.His122=)
NM_002435.3(MPI):c.369C>T (p.Leu123=)
NM_002435.3(MPI):c.36G>C (p.Ala12=)
NM_002435.3(MPI):c.381G>A (p.Gln127=)
NM_002435.3(MPI):c.396C>T (p.Ala132=) rs2141199526
NM_002435.3(MPI):c.402C>T (p.His134=) rs2141199543
NM_002435.3(MPI):c.417C>T (p.Ala139=)
NM_002435.3(MPI):c.426C>G (p.Leu142=)
NM_002435.3(MPI):c.432C>G (p.Pro144=) rs145767808
NM_002435.3(MPI):c.432C>T (p.Pro144=) rs145767808
NM_002435.3(MPI):c.444G>A (p.Leu148=)
NM_002435.3(MPI):c.459A>G (p.Pro153=)
NM_002435.3(MPI):c.465G>A (p.Glu155=)
NM_002435.3(MPI):c.471T>A (p.Ile157=)
NM_002435.3(MPI):c.471T>C (p.Ile157=)
NM_002435.3(MPI):c.477C>T (p.Thr159=)
NM_002435.3(MPI):c.487+10G>A rs2141199719
NM_002435.3(MPI):c.487+12A>G
NM_002435.3(MPI):c.487+14A>C
NM_002435.3(MPI):c.487+17G>A
NM_002435.3(MPI):c.487+7T>C
NM_002435.3(MPI):c.488-12G>A rs969925962
NM_002435.3(MPI):c.488-12G>C
NM_002435.3(MPI):c.488-17G>A
NM_002435.3(MPI):c.488-5T>C rs2141200247
NM_002435.3(MPI):c.492G>A (p.Val164=) rs2141200277
NM_002435.3(MPI):c.507C>T (p.Phe169=)
NM_002435.3(MPI):c.531A>G (p.Thr177=)
NM_002435.3(MPI):c.534C>T (p.His178=) rs775688839
NM_002435.3(MPI):c.546C>T (p.Thr182=) rs2064752091
NM_002435.3(MPI):c.567T>C (p.Ala189=)
NM_002435.3(MPI):c.576C>G (p.Ser192=)
NM_002435.3(MPI):c.576C>T (p.Ser192=) rs794727716
NM_002435.3(MPI):c.591T>C (p.Cys197=) rs2141200469
NM_002435.3(MPI):c.594C>T (p.Phe198=) rs1399029075
NM_002435.3(MPI):c.60G>A (p.Lys20=) rs779832985
NM_002435.3(MPI):c.618G>A (p.Lys206=) rs777538825
NM_002435.3(MPI):c.627G>A (p.Val209=)
NM_002435.3(MPI):c.627G>T (p.Val209=)
NM_002435.3(MPI):c.630G>A (p.Val210=)
NM_002435.3(MPI):c.633A>G (p.Glu211=) rs2141200588
NM_002435.3(MPI):c.643C>T (p.Leu215=) rs1595818707
NM_002435.3(MPI):c.657G>A (p.Arg219=) rs1318782866
NM_002435.3(MPI):c.657G>C (p.Arg219=) rs1318782866
NM_002435.3(MPI):c.670+10G>A rs2141200747
NM_002435.3(MPI):c.670+13A>G
NM_002435.3(MPI):c.670+14T>C
NM_002435.3(MPI):c.670+15A>C
NM_002435.3(MPI):c.670+7A>G
NM_002435.3(MPI):c.670+8_670+9del
NM_002435.3(MPI):c.670+8_670+9inv
NM_002435.3(MPI):c.670+9A>C rs7495739
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.670+9del
NM_002435.3(MPI):c.670+9dup rs1595818806
NM_002435.3(MPI):c.671-13_671-12del
NM_002435.3(MPI):c.671-15C>G
NM_002435.3(MPI):c.671-15C>T
NM_002435.3(MPI):c.671-7C>T rs2141206472
NM_002435.3(MPI):c.671-8A>T
NM_002435.3(MPI):c.671-9G>C rs561678676
NM_002435.3(MPI):c.675T>C (p.Ala225=)
NM_002435.3(MPI):c.678C>T (p.Ala226=)
NM_002435.3(MPI):c.681A>G (p.Gly227=) rs1595822320
NM_002435.3(MPI):c.693G>A (p.Glu231=) rs2141206565
NM_002435.3(MPI):c.699C>T (p.Ile233=)
NM_002435.3(MPI):c.6C>A (p.Ala2=) rs149477499
NM_002435.3(MPI):c.6C>G (p.Ala2=)
NM_002435.3(MPI):c.6C>T (p.Ala2=) rs149477499
NM_002435.3(MPI):c.744T>C (p.Asp248=) rs2141206666
NM_002435.3(MPI):c.747C>A (p.Ile249=) rs778875616
NM_002435.3(MPI):c.765C>T (p.Tyr255=)
NM_002435.3(MPI):c.769C>T (p.Leu257=) rs1595822532
NM_002435.3(MPI):c.771G>A (p.Leu257=) rs2141206771
NM_002435.3(MPI):c.774C>T (p.Asn258=)
NM_002435.3(MPI):c.775C>T (p.Leu259=) rs2141206776
NM_002435.3(MPI):c.777G>A (p.Leu259=)
NM_002435.3(MPI):c.783C>A (p.Thr261=) rs2141206797
NM_002435.3(MPI):c.783C>T (p.Thr261=) rs2141206797
NM_002435.3(MPI):c.786G>A (p.Leu262=) rs1301498236
NM_002435.3(MPI):c.78A>G (p.Glu26=) rs1596440826
NM_002435.3(MPI):c.792T>C (p.Pro264=)
NM_002435.3(MPI):c.810G>A (p.Leu270=)
NM_002435.3(MPI):c.810G>C (p.Leu270=) rs2141206859
NM_002435.3(MPI):c.816C>G (p.Ala272=) rs2064817492
NM_002435.3(MPI):c.834C>T (p.Tyr278=)
NM_002435.3(MPI):c.844+10A>G
NM_002435.3(MPI):c.844+14C>G
NM_002435.3(MPI):c.844+9C>G rs2141206935
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_002435.3(MPI):c.845-14G>A
NM_002435.3(MPI):c.845-14_845-12del
NM_002435.3(MPI):c.845-15C>T
NM_002435.3(MPI):c.845-17G>T
NM_002435.3(MPI):c.845-18dup
NM_002435.3(MPI):c.845-20C>T
NM_002435.3(MPI):c.845-4C>A
NM_002435.3(MPI):c.864G>A (p.Ala288=) rs1017060960
NM_002435.3(MPI):c.882T>G (p.Val294=) rs2141208380
NM_002435.3(MPI):c.894G>A (p.Leu298=)
NM_002435.3(MPI):c.91T>C (p.Leu31=) rs765537697
NM_002435.3(MPI):c.936C>T (p.Leu312=) rs1362422803
NM_002435.3(MPI):c.939C>T (p.Ser313=)
NM_002435.3(MPI):c.945C>T (p.Thr315=)
NM_002435.3(MPI):c.948T>A (p.Pro316=) rs778221310
NM_002435.3(MPI):c.969C>G (p.Leu323=)
NM_002435.3(MPI):c.984G>C (p.Arg328=)
NM_002435.3(MPI):c.984G>T (p.Arg328=)
NM_002435.3(MPI):c.987T>C (p.Ser329=)
NM_002435.3(MPI):c.993A>G (p.Glu331=) rs2141208617
NM_002435.3(MPI):c.996C>T (p.Asp332=) rs1042715923
NM_002633.3(PGM1):c.1028+13A>G
NM_002633.3(PGM1):c.1028+18C>T
NM_002633.3(PGM1):c.1029-19T>C
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1044A>C (p.Thr348=)
NM_002633.3(PGM1):c.105C>T (p.Tyr35=)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1065C>T (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.108G>A (p.Ala36=)
NM_002633.3(PGM1):c.1145-10C>T
NM_002633.3(PGM1):c.1145-11C>T
NM_002633.3(PGM1):c.1145-6C>G
NM_002633.3(PGM1):c.1145-9C>G
NM_002633.3(PGM1):c.1191C>A (p.Ala397=)
NM_002633.3(PGM1):c.1206A>C (p.Leu402=) rs2100998429
NM_002633.3(PGM1):c.1209C>A (p.Ala403=)
NM_002633.3(PGM1):c.1233C>T (p.Asp411=)
NM_002633.3(PGM1):c.1239C>T (p.Leu413=)
NM_002633.3(PGM1):c.123G>A (p.Gln41=)
NM_002633.3(PGM1):c.1254A>G (p.Gln418=)
NM_002633.3(PGM1):c.1280+12C>T
NM_002633.3(PGM1):c.1281-14G>A
NM_002633.3(PGM1):c.1281-15C>T
NM_002633.3(PGM1):c.1281-17T>A
NM_002633.3(PGM1):c.1281-5T>C
NM_002633.3(PGM1):c.1293G>A (p.Glu431=)
NM_002633.3(PGM1):c.1299G>A (p.Val433=)
NM_002633.3(PGM1):c.129C>T (p.Ile43=)
NM_002633.3(PGM1):c.1371G>A (p.Lys457=)
NM_002633.3(PGM1):c.1401T>A (p.Thr467=)
NM_002633.3(PGM1):c.1413C>T (p.Ala471=)
NM_002633.3(PGM1):c.1422T>C (p.Phe474=)
NM_002633.3(PGM1):c.1431C>T (p.Ser477=)
NM_002633.3(PGM1):c.1455A>G (p.Ser485=)
NM_002633.3(PGM1):c.1464+14G>A rs2269238
NM_002633.3(PGM1):c.1464+15G>A rs748510501
NM_002633.3(PGM1):c.1464+9A>T
NM_002633.3(PGM1):c.1465-16_1465-15del
NM_002633.3(PGM1):c.1496G>A (p.Arg499Gln) rs770023140
NM_002633.3(PGM1):c.1524G>T (p.Gly508=)
NM_002633.3(PGM1):c.1530C>T (p.Ala510=)
NM_002633.3(PGM1):c.156G>C (p.Arg52=)
NM_002633.3(PGM1):c.1600-13A>G
NM_002633.3(PGM1):c.1600-15C>G
NM_002633.3(PGM1):c.1668T>A (p.Thr556=)
NM_002633.3(PGM1):c.1668T>G (p.Thr556=) rs752885355
NM_002633.3(PGM1):c.168G>C (p.Thr56=)
NM_002633.3(PGM1):c.171G>A (p.Leu57=)
NM_002633.3(PGM1):c.180C>T (p.Gly60=)
NM_002633.3(PGM1):c.243C>T (p.Asn81=)
NM_002633.3(PGM1):c.246+11C>T
NM_002633.3(PGM1):c.246+8A>G
NM_002633.3(PGM1):c.247-7C>T rs1570493471
NM_002633.3(PGM1):c.249C>A (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.249C>T (p.Ile83=) rs140086116
NM_002633.3(PGM1):c.261T>C (p.Val87=)
NM_002633.3(PGM1):c.282C>G (p.Leu94=)
NM_002633.3(PGM1):c.300C>G (p.Ser100=)
NM_002633.3(PGM1):c.336C>T (p.Ile112=)
NM_002633.3(PGM1):c.357C>T (p.Asn119=)
NM_002633.3(PGM1):c.360A>G (p.Pro120=)
NM_002633.3(PGM1):c.399T>A (p.Ile133=)
NM_002633.3(PGM1):c.409+12G>C
NM_002633.3(PGM1):c.410-11T>C
NM_002633.3(PGM1):c.410-13G>C
NM_002633.3(PGM1):c.410-18T>C
NM_002633.3(PGM1):c.414T>C (p.Pro138=)
NM_002633.3(PGM1):c.414T>G (p.Pro138=)
NM_002633.3(PGM1):c.42C>T (p.Asp14=)
NM_002633.3(PGM1):c.48G>A (p.Lys16=)
NM_002633.3(PGM1):c.51G>C (p.Pro17=)
NM_002633.3(PGM1):c.540G>A (p.Lys180=)
NM_002633.3(PGM1):c.557-11del
NM_002633.3(PGM1):c.557-5C>T rs2100983821
NM_002633.3(PGM1):c.557-5del
NM_002633.3(PGM1):c.60C>T (p.Ser20=)
NM_002633.3(PGM1):c.618T>C (p.Ser206=)
NM_002633.3(PGM1):c.648C>T (p.Asn216=)
NM_002633.3(PGM1):c.666T>C (p.Ile222=)
NM_002633.3(PGM1):c.682+20C>T
NM_002633.3(PGM1):c.683-6A>G
NM_002633.3(PGM1):c.723C>G (p.Leu241=)
NM_002633.3(PGM1):c.723C>T (p.Leu241=)
NM_002633.3(PGM1):c.729C>T (p.Ala243=)
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.741G>C (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.753C>T (p.Cys251=)
NM_002633.3(PGM1):c.759T>C (p.Pro253=)
NM_002633.3(PGM1):c.801C>A (p.Thr267=)
NM_002633.3(PGM1):c.816G>C (p.Leu272=)
NM_002633.3(PGM1):c.873+10A>G
NM_002633.3(PGM1):c.873+7A>T rs1176093923
NM_002633.3(PGM1):c.874-5C>T
NM_002633.3(PGM1):c.874-6C>A
NM_002633.3(PGM1):c.874-7C>T rs2100988580
NM_002633.3(PGM1):c.903G>A (p.Gly301=)
NM_002633.3(PGM1):c.90G>A (p.Gln30=)
NM_002633.3(PGM1):c.981G>A (p.Gly327=)
NM_003859.3(DPM1):c.10T>C (p.Leu4=)
NM_003859.3(DPM1):c.117C>T (p.Asn39=) rs1488509110
NM_003859.3(DPM1):c.123G>A (p.Pro41=)
NM_003859.3(DPM1):c.123G>T (p.Pro41=) rs762396281
NM_003859.3(DPM1):c.161+10C>T rs779869066
NM_003859.3(DPM1):c.161+16_161+21del rs2123154859
NM_003859.3(DPM1):c.161+20_161+22del
NM_003859.3(DPM1):c.18C>A (p.Val6=)
NM_003859.3(DPM1):c.18C>G (p.Val6=) rs141104808
NM_003859.3(DPM1):c.18C>T (p.Val6=)
NM_003859.3(DPM1):c.232T>C (p.Leu78=) rs1986765330
NM_003859.3(DPM1):c.262-19C>A
NM_003859.3(DPM1):c.262-19C>T
NM_003859.3(DPM1):c.262-9T>C rs759423847
NM_003859.3(DPM1):c.267A>G (p.Leu89=)
NM_003859.3(DPM1):c.273A>G (p.Pro91=) rs766462970
NM_003859.3(DPM1):c.295+8G>C rs758553918
NM_003859.3(DPM1):c.296-14A>C
NM_003859.3(DPM1):c.296-9C>A rs1986258505
NM_003859.3(DPM1):c.296-9C>G rs1986258505
NM_003859.3(DPM1):c.303A>G (p.Ala101=) rs139211110
NM_003859.3(DPM1):c.303A>T (p.Ala101=)
NM_003859.3(DPM1):c.30T>C (p.Pro10=)
NM_003859.3(DPM1):c.345T>C (p.Ile115=)
NM_003859.3(DPM1):c.372+12G>A
NM_003859.3(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.3(DPM1):c.398+20T>C
NM_003859.3(DPM1):c.399-13A>T
NM_003859.3(DPM1):c.414T>C (p.Gly138=) rs2123098264
NM_003859.3(DPM1):c.429C>T (p.Val143=)
NM_003859.3(DPM1):c.42G>T (p.Arg14=) rs2123155781
NM_003859.3(DPM1):c.459T>C (p.Gly153=) rs1985885337
NM_003859.3(DPM1):c.459T>G (p.Gly153=)
NM_003859.3(DPM1):c.494+16dup
NM_003859.3(DPM1):c.494+7A>G rs1441485408
NM_003859.3(DPM1):c.494+9A>C rs774832271
NM_003859.3(DPM1):c.495-15T>G
NM_003859.3(DPM1):c.495-18G>C
NM_003859.3(DPM1):c.552A>C (p.Thr184=) rs1985668924
NM_003859.3(DPM1):c.564-24AT[3] rs759107587
NM_003859.3(DPM1):c.567A>G (p.Leu189=) rs897083759
NM_003859.3(DPM1):c.618C>T (p.Gly206=)
NM_003859.3(DPM1):c.621C>T (p.Tyr207=) rs1373039485
NM_003859.3(DPM1):c.658T>C (p.Leu220=) rs17855394
NM_003859.3(DPM1):c.669T>C (p.Thr223=) rs561078570
NM_003859.3(DPM1):c.678+18A>C rs2123061147
NM_003859.3(DPM1):c.678+9C>G rs749718528
NM_003859.3(DPM1):c.679-12T>G
NM_003859.3(DPM1):c.679-7_679-6insT rs11480415
NM_003859.3(DPM1):c.679-7_679-6insTT rs11480415
NM_003859.3(DPM1):c.679-9_679-8dup
NM_003859.3(DPM1):c.67C>A (p.Arg23=)
NM_003859.3(DPM1):c.684A>C (p.Pro228=)
NM_003859.3(DPM1):c.6C>T (p.Ala2=)
NM_003859.3(DPM1):c.702T>C (p.Arg234=) rs2123056796
NM_003859.3(DPM1):c.768T>C (p.Leu256=)
NM_003859.3(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003859.3(DPM1):c.87G>C (p.Val29=)
NM_003859.3(DPM1):c.9C>T (p.Ser3=) rs150509150
NM_003863.4(DPM2):c.120C>T (p.Ile40=) rs1588689780
NM_003863.4(DPM2):c.153C>A (p.Val51=)
NM_003863.4(DPM2):c.178C>T (p.Leu60=) rs2131648105
NM_003863.4(DPM2):c.180G>A (p.Leu60=) rs2131648100
NM_003863.4(DPM2):c.196+12C>T
NM_003863.4(DPM2):c.196+13C>T
NM_003863.4(DPM2):c.196+18C>G
NM_003863.4(DPM2):c.196+19C>T rs769003503
NM_003863.4(DPM2):c.196+20C>T
NM_003863.4(DPM2):c.237G>A (p.Val79=)
NM_003863.4(DPM2):c.27G>C (p.Val9=)
NM_003863.4(DPM2):c.3+12A>T
NM_003863.4(DPM2):c.3+14C>T
NM_003863.4(DPM2):c.3+15G>T
NM_003863.4(DPM2):c.3+16T>C
NM_003863.4(DPM2):c.39C>T (p.Leu13=) rs757467123
NM_003863.4(DPM2):c.4-18G>C
NM_003863.4(DPM2):c.66C>A (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.66C>G (p.Thr22=) rs532790675
NM_003863.4(DPM2):c.93+14C>T rs1831525625
NM_003863.4(DPM2):c.93+17G>A
NM_003863.4(DPM2):c.93+17G>C
NM_003863.4(DPM2):c.94-11C>T
NM_003863.4(DPM2):c.94-14del rs760202275
NM_003863.4(DPM2):c.94-18C>G rs577196007
NM_003863.4(DPM2):c.94-19G>C
NM_003863.4(DPM2):c.94-19G>T
NM_003863.4(DPM2):c.94-4C>T rs1588689814
NM_004870.4(MPDU1):c.303-9A>G rs763924892
NM_004870.4(MPDU1):c.468G>A (p.Leu156=)
NM_004870.4(MPDU1):c.582T>C (p.Phe194=) rs763418089
NM_004870.4(MPDU1):c.591C>G (p.Ser197=) rs2150936245
NM_004870.4(MPDU1):c.619-17C>G
NM_005216.5(DDOST):c.1063+19C>T
NM_005216.5(DDOST):c.1063+20G>A
NM_005216.5(DDOST):c.1064-5C>T
NM_005216.5(DDOST):c.111C>T (p.Leu37=) rs2154534463
NM_005216.5(DDOST):c.1158C>T (p.Tyr386=)
NM_005216.5(DDOST):c.1171-7_1171-5del
NM_005216.5(DDOST):c.1171-9C>G
NM_005216.5(DDOST):c.1218C>T (p.Pro406=)
NM_005216.5(DDOST):c.1263G>C (p.Gly421=)
NM_005216.5(DDOST):c.132G>T (p.Ser44=)
NM_005216.5(DDOST):c.154+14C>T
NM_005216.5(DDOST):c.154+7G>C
NM_005216.5(DDOST):c.225C>T (p.Phe75=) rs1408934262
NM_005216.5(DDOST):c.24G>A (p.Arg8=)
NM_005216.5(DDOST):c.312C>T (p.Asp104=)
NM_005216.5(DDOST):c.457-9T>G
NM_005216.5(DDOST):c.462G>A (p.Thr154=)
NM_005216.5(DDOST):c.534C>T (p.Ile178=)
NM_005216.5(DDOST):c.540T>C (p.Phe180=) rs2154534275
NM_005216.5(DDOST):c.551+11G>A rs369573026
NM_005216.5(DDOST):c.551+17G>A
NM_005216.5(DDOST):c.552-12G>A
NM_005216.5(DDOST):c.618C>A (p.Ser206=)
NM_005216.5(DDOST):c.63C>T (p.Gly21=)
NM_005216.5(DDOST):c.645+19T>C
NM_005216.5(DDOST):c.732C>A (p.Leu244=) rs149114970
NM_005216.5(DDOST):c.753C>T (p.Phe251=)
NM_005216.5(DDOST):c.794+10A>G
NM_005216.5(DDOST):c.794+10A>T
NM_005216.5(DDOST):c.942+13dup
NM_005216.5(DDOST):c.942+15G>C
NM_005787.6(ALG3):c.1009+14T>G
NM_005787.6(ALG3):c.1014C>T (p.Ile338=)
NM_005787.6(ALG3):c.1170G>T (p.Gly390=) rs758528909
NM_005787.6(ALG3):c.1242C>T (p.Ala414=)
NM_005787.6(ALG3):c.1254G>A (p.Leu418=)
NM_005787.6(ALG3):c.18G>A (p.Arg6=) rs1239564678
NM_005787.6(ALG3):c.196+16G>A
NM_005787.6(ALG3):c.196+19del rs1260750286
NM_005787.6(ALG3):c.296+13A>C rs2108442309
NM_005787.6(ALG3):c.296+20T>C
NM_005787.6(ALG3):c.297-11T>C
NM_005787.6(ALG3):c.297-19A>G
NM_005787.6(ALG3):c.30G>C (p.Arg10=)
NM_005787.6(ALG3):c.321C>T (p.Ile107=) rs1436563177
NM_005787.6(ALG3):c.33C>A (p.Ser11=)
NM_005787.6(ALG3):c.445-17C>T
NM_005787.6(ALG3):c.445-19T>C
NM_005787.6(ALG3):c.456C>T (p.Phe152=)
NM_005787.6(ALG3):c.579C>T (p.Arg193=)
NM_005787.6(ALG3):c.606-18C>T
NM_005787.6(ALG3):c.633G>A (p.Val211=) rs2108441361
NM_005787.6(ALG3):c.639C>A (p.Leu213=)
NM_005787.6(ALG3):c.717T>G (p.Ala239=)
NM_005787.6(ALG3):c.888C>T (p.Ala296=)
NM_005787.6(ALG3):c.918C>T (p.Leu306=)
NM_005787.6(ALG3):c.932+10G>A
NM_005787.6(ALG3):c.933-20_933-17del
NM_005787.6(ALG3):c.945T>C (p.Ser315=)
NM_012463.4(ATP6V0A2):c.102G>T (p.Leu34=)
NM_012463.4(ATP6V0A2):c.1038+20_1038+22del
NM_012463.4(ATP6V0A2):c.1039-13G>A rs375793162
NM_012463.4(ATP6V0A2):c.1039-15T>C
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) rs1593910063
NM_012463.4(ATP6V0A2):c.1098C>A (p.Pro366=)
NM_012463.4(ATP6V0A2):c.1128C>G (p.Thr376=)
NM_012463.4(ATP6V0A2):c.117+10G>A
NM_012463.4(ATP6V0A2):c.117+13C>T
NM_012463.4(ATP6V0A2):c.117+18_117+19del rs772260989
NM_012463.4(ATP6V0A2):c.117+19A>G
NM_012463.4(ATP6V0A2):c.117+20C>G
NM_012463.4(ATP6V0A2):c.117+20_117+21insT
NM_012463.4(ATP6V0A2):c.117+7G>A
NM_012463.4(ATP6V0A2):c.117+9C>A
NM_012463.4(ATP6V0A2):c.118-13A>G
NM_012463.4(ATP6V0A2):c.118-4T>C
NM_012463.4(ATP6V0A2):c.118-9T>G
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721
NM_012463.4(ATP6V0A2):c.1245C>T (p.Phe415=)
NM_012463.4(ATP6V0A2):c.1248A>C (p.Gly416=)
NM_012463.4(ATP6V0A2):c.1311A>G (p.Leu437=)
NM_012463.4(ATP6V0A2):c.1326+7A>C
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup rs1593910803
NM_012463.4(ATP6V0A2):c.1353G>A (p.Arg451=)
NM_012463.4(ATP6V0A2):c.1362C>T (p.Leu454=)
NM_012463.4(ATP6V0A2):c.1391C>G (p.Thr464Ser)
NM_012463.4(ATP6V0A2):c.1407C>T (p.Asn469=)
NM_012463.4(ATP6V0A2):c.1410C>T (p.Asp470=)
NM_012463.4(ATP6V0A2):c.1437C>T (p.Phe479=)
NM_012463.4(ATP6V0A2):c.1455G>A (p.Val485=)
NM_012463.4(ATP6V0A2):c.1473C>T (p.Ser491=)
NM_012463.4(ATP6V0A2):c.1476C>T (p.Ser492=)
NM_012463.4(ATP6V0A2):c.1491G>A (p.Glu497=)
NM_012463.4(ATP6V0A2):c.1515-7_1515-5del
NM_012463.4(ATP6V0A2):c.1515-9T>C
NM_012463.4(ATP6V0A2):c.1515-9T>G
NM_012463.4(ATP6V0A2):c.1605+10C>T
NM_012463.4(ATP6V0A2):c.1605+16T>G rs532950608
NM_012463.4(ATP6V0A2):c.1615T>C (p.Leu539=)
NM_012463.4(ATP6V0A2):c.1639C>T (p.Leu547=)
NM_012463.4(ATP6V0A2):c.1665C>G (p.Ser555=)
NM_012463.4(ATP6V0A2):c.1674A>G (p.Leu558=)
NM_012463.4(ATP6V0A2):c.1677A>C (p.Gly559=)
NM_012463.4(ATP6V0A2):c.1692T>G (p.Thr564=) rs2135913544
NM_012463.4(ATP6V0A2):c.1724+11A>T
NM_012463.4(ATP6V0A2):c.1725-9C>T
NM_012463.4(ATP6V0A2):c.1755G>C (p.Leu585=)
NM_012463.4(ATP6V0A2):c.1767G>A (p.Pro589=)
NM_012463.4(ATP6V0A2):c.1776C>T (p.Leu592=)
NM_012463.4(ATP6V0A2):c.1830G>T (p.Leu610=)
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) rs776365183
NM_012463.4(ATP6V0A2):c.1863C>T (p.Pro621=) rs2135914630
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) rs1593915216
NM_012463.4(ATP6V0A2):c.1932G>A (p.Gly644=)
NM_012463.4(ATP6V0A2):c.1941T>C (p.Tyr647=)
NM_012463.4(ATP6V0A2):c.1953G>A (p.Val651=)
NM_012463.4(ATP6V0A2):c.196+8T>A
NM_012463.4(ATP6V0A2):c.197-14T>A
NM_012463.4(ATP6V0A2):c.2034T>C (p.Arg678=)
NM_012463.4(ATP6V0A2):c.2055+18_2055+24dup
NM_012463.4(ATP6V0A2):c.2055+8C>T
NM_012463.4(ATP6V0A2):c.2055+9G>A
NM_012463.4(ATP6V0A2):c.2056-10T>C
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2056-14C>T
NM_012463.4(ATP6V0A2):c.2056-18_2056-17del
NM_012463.4(ATP6V0A2):c.2056-20T>C
NM_012463.4(ATP6V0A2):c.2067A>G (p.Thr689=)
NM_012463.4(ATP6V0A2):c.2097T>A (p.Val699=)
NM_012463.4(ATP6V0A2):c.2151A>T (p.Gly717=)
NM_012463.4(ATP6V0A2):c.2223G>A (p.Glu741=)
NM_012463.4(ATP6V0A2):c.2230C>T (p.Leu744=)
NM_012463.4(ATP6V0A2):c.2256C>T (p.Ser752=)
NM_012463.4(ATP6V0A2):c.2289C>T (p.His763=)
NM_012463.4(ATP6V0A2):c.2294-12A>G
NM_012463.4(ATP6V0A2):c.2328C>T (p.Arg776=)
NM_012463.4(ATP6V0A2):c.234C>G (p.Pro78=)
NM_012463.4(ATP6V0A2):c.2370G>C (p.Leu790=)
NM_012463.4(ATP6V0A2):c.2388C>G (p.Leu796=)
NM_012463.4(ATP6V0A2):c.2448C>T (p.His816=)
NM_012463.4(ATP6V0A2):c.2465+20T>C
NM_012463.4(ATP6V0A2):c.2466-10T>G
NM_012463.4(ATP6V0A2):c.2466-16C>G
NM_012463.4(ATP6V0A2):c.2466-16C>T
NM_012463.4(ATP6V0A2):c.2466-17_2466-16insA
NM_012463.4(ATP6V0A2):c.2472A>G (p.Glu824=)
NM_012463.4(ATP6V0A2):c.2541A>G (p.Ser847=)
NM_012463.4(ATP6V0A2):c.2553C>T (p.Asn851=)
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=) rs1032324166
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.294+16C>A
NM_012463.4(ATP6V0A2):c.294+16C>T
NM_012463.4(ATP6V0A2):c.294+17G>A
NM_012463.4(ATP6V0A2):c.294+18A>G
NM_012463.4(ATP6V0A2):c.333C>A (p.Val111=)
NM_012463.4(ATP6V0A2):c.333C>T (p.Val111=)
NM_012463.4(ATP6V0A2):c.336T>A (p.Thr112=)
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.433-5T>C
NM_012463.4(ATP6V0A2):c.459T>G (p.Pro153=)
NM_012463.4(ATP6V0A2):c.516A>G (p.Lys172=)
NM_012463.4(ATP6V0A2):c.519G>C (p.Leu173=)
NM_012463.4(ATP6V0A2):c.528G>A (p.Val176=)
NM_012463.4(ATP6V0A2):c.63G>T (p.Thr21=)
NM_012463.4(ATP6V0A2):c.645A>G (p.Glu215=)
NM_012463.4(ATP6V0A2):c.648+13C>T
NM_012463.4(ATP6V0A2):c.649-15A>G
NM_012463.4(ATP6V0A2):c.649-20T>C
NM_012463.4(ATP6V0A2):c.705C>T (p.Gly235=) rs767516975
NM_012463.4(ATP6V0A2):c.72G>A (p.Glu24=)
NM_012463.4(ATP6V0A2):c.731+12A>G
NM_012463.4(ATP6V0A2):c.731+16A>G
NM_012463.4(ATP6V0A2):c.744C>T (p.His248=)
NM_012463.4(ATP6V0A2):c.768C>A (p.Ala256=)
NM_012463.4(ATP6V0A2):c.78C>G (p.Leu26=)
NM_012463.4(ATP6V0A2):c.81C>T (p.Ser27=)
NM_012463.4(ATP6V0A2):c.826-14T>G rs2135901661
NM_012463.4(ATP6V0A2):c.826-15G>A
NM_012463.4(ATP6V0A2):c.826-18C>G
NM_012463.4(ATP6V0A2):c.826-20C>T
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.849T>C (p.Tyr283=)
NM_012463.4(ATP6V0A2):c.864A>G (p.Leu288=)
NM_012463.4(ATP6V0A2):c.876C>T (p.Ala292=)
NM_012463.4(ATP6V0A2):c.90C>G (p.Gly30=)
NM_012463.4(ATP6V0A2):c.912A>G (p.Lys304=) rs2135901865
NM_012463.4(ATP6V0A2):c.939C>T (p.Asn313=)
NM_012463.4(ATP6V0A2):c.999G>A (p.Ala333=)
NM_013339.4(ALG6):c.1000C>T (p.Leu334=)
NM_013339.4(ALG6):c.1005A>C (p.Ser335=) rs146094200
NM_013339.4(ALG6):c.1005A>T (p.Ser335=)
NM_013339.4(ALG6):c.1011T>C (p.Phe337=) rs2100428006
NM_013339.4(ALG6):c.1041C>G (p.Ser347=)
NM_013339.4(ALG6):c.1047C>T (p.Leu349=) rs2100428058
NM_013339.4(ALG6):c.1048T>C (p.Leu350=)
NM_013339.4(ALG6):c.1058+16T>G
NM_013339.4(ALG6):c.1058+16del
NM_013339.4(ALG6):c.1058+19A>C
NM_013339.4(ALG6):c.1058+7A>G rs2100428084
NM_013339.4(ALG6):c.1059-20T>G
NM_013339.4(ALG6):c.1059-4T>G
NM_013339.4(ALG6):c.1059-7A>C
NM_013339.4(ALG6):c.1059-7A>G rs769414669
NM_013339.4(ALG6):c.1059-8G>A rs755900020
NM_013339.4(ALG6):c.1116G>T (p.Val372=)
NM_013339.4(ALG6):c.1127+11T>C rs1436987592
NM_013339.4(ALG6):c.1127+14A>G
NM_013339.4(ALG6):c.1127+18C>G
NM_013339.4(ALG6):c.1127+20A>G
NM_013339.4(ALG6):c.1127+8A>C rs756307525
NM_013339.4(ALG6):c.1127+8A>G rs756307525
NM_013339.4(ALG6):c.1127+9T>A rs1303052047
NM_013339.4(ALG6):c.1128-15A>C
NM_013339.4(ALG6):c.1128-19T>A
NM_013339.4(ALG6):c.1128-9C>T rs2100440607
NM_013339.4(ALG6):c.1134A>C (p.Leu378=)
NM_013339.4(ALG6):c.1134A>G (p.Leu378=)
NM_013339.4(ALG6):c.1137T>A (p.Pro379=)
NM_013339.4(ALG6):c.1144T>C (p.Leu382=)
NM_013339.4(ALG6):c.1161A>G (p.Leu387=)
NM_013339.4(ALG6):c.1176G>A (p.Val392=) rs751280587
NM_013339.4(ALG6):c.1188A>G (p.Ala396=)
NM_013339.4(ALG6):c.1203T>C (p.Cys401=)
NM_013339.4(ALG6):c.1206A>G (p.Val402=)
NM_013339.4(ALG6):c.1227A>G (p.Glu409=)
NM_013339.4(ALG6):c.123G>A (p.Gln41=)
NM_013339.4(ALG6):c.1242A>G (p.Glu414=)
NM_013339.4(ALG6):c.1254G>A (p.Leu418=) rs2100440829
NM_013339.4(ALG6):c.1257A>G (p.Lys419=)
NM_013339.4(ALG6):c.1260C>A (p.Ser420=)
NM_013339.4(ALG6):c.1260C>T (p.Ser420=)
NM_013339.4(ALG6):c.1266C>A (p.Ser422=) rs748902317
NM_013339.4(ALG6):c.1266C>T (p.Ser422=) rs748902317
NM_013339.4(ALG6):c.1272T>A (p.Ser424=)
NM_013339.4(ALG6):c.1281A>G (p.Lys427=)
NM_013339.4(ALG6):c.1290A>G (p.Pro430=)
NM_013339.4(ALG6):c.1296T>C (p.Phe432=) rs2100440862
NM_013339.4(ALG6):c.129C>T (p.His43=) rs2100404957
NM_013339.4(ALG6):c.1326+10A>G
NM_013339.4(ALG6):c.1326+8C>G rs2100440914
NM_013339.4(ALG6):c.1326+8C>T
NM_013339.4(ALG6):c.1327-12T>C
NM_013339.4(ALG6):c.1327-13T>C
NM_013339.4(ALG6):c.1327-15T>C
NM_013339.4(ALG6):c.1327-16C>A
NM_013339.4(ALG6):c.1327-17C>T
NM_013339.4(ALG6):c.1327-5T>G
NM_013339.4(ALG6):c.1327-8C>T rs1004908693
NM_013339.4(ALG6):c.1344C>T (p.Ile448=)
NM_013339.4(ALG6):c.1347T>C (p.Thr449=) rs1644681761
NM_013339.4(ALG6):c.1359G>A (p.Leu453=) rs2100448162
NM_013339.4(ALG6):c.1363T>C (p.Leu455=) rs2100448173
NM_013339.4(ALG6):c.1371T>C (p.Thr457=)
NM_013339.4(ALG6):c.1386T>C (p.Pro462=) rs1644682042
NM_013339.4(ALG6):c.138A>G (p.Glu46=)
NM_013339.4(ALG6):c.1413T>G (p.Ser471=) rs2100448244
NM_013339.4(ALG6):c.1428T>C (p.Phe476=)
NM_013339.4(ALG6):c.1443C>T (p.Asn481=) rs1057524080
NM_013339.4(ALG6):c.1449G>A (p.Leu483=) rs1644682453
NM_013339.4(ALG6):c.1449G>C (p.Leu483=)
NM_013339.4(ALG6):c.144T>A (p.Thr48=)
NM_013339.4(ALG6):c.1456T>C (p.Leu486=)
NM_013339.4(ALG6):c.1467T>C (p.Phe489=)
NM_013339.4(ALG6):c.1476T>C (p.Ile492=) rs2100448349
NM_013339.4(ALG6):c.1479T>A (p.Ile493=) rs1644682686
NM_013339.4(ALG6):c.1506T>C (p.Asn502=)
NM_013339.4(ALG6):c.1524G>A (p.Ter508=)
NM_013339.4(ALG6):c.15C>T (p.Tyr5=) rs1160519305
NM_013339.4(ALG6):c.167+14A>G
NM_013339.4(ALG6):c.167+15A>G
NM_013339.4(ALG6):c.167+19G>C
NM_013339.4(ALG6):c.167+7del
NM_013339.4(ALG6):c.168-5T>C rs2100412747
NM_013339.4(ALG6):c.168-9C>G rs751572798
NM_013339.4(ALG6):c.16T>C (p.Leu6=) rs1439550994
NM_013339.4(ALG6):c.171T>C (p.Tyr57=)
NM_013339.4(ALG6):c.192T>C (p.Asn64=) rs1644468589
NM_013339.4(ALG6):c.201T>C (p.Tyr67=) rs2100412804
NM_013339.4(ALG6):c.234T>C (p.Tyr78=)
NM_013339.4(ALG6):c.246A>C (p.Leu82=) rs112029121
NM_013339.4(ALG6):c.246A>G (p.Leu82=)
NM_013339.4(ALG6):c.24A>C (p.Thr8=) rs2100378424
NM_013339.4(ALG6):c.257+14del
NM_013339.4(ALG6):c.257+17T>C
NM_013339.4(ALG6):c.257+19A>T
NM_013339.4(ALG6):c.258-13C>G
NM_013339.4(ALG6):c.258-14G>A rs1644480698
NM_013339.4(ALG6):c.258-15T>A rs1427230309
NM_013339.4(ALG6):c.258-18A>C
NM_013339.4(ALG6):c.258-18A>G
NM_013339.4(ALG6):c.258-19T>C
NM_013339.4(ALG6):c.258-4G>T rs376611585
NM_013339.4(ALG6):c.258-8A>G rs1570063031
NM_013339.4(ALG6):c.258-9G>T
NM_013339.4(ALG6):c.279C>T (p.Asp93=) rs2100415406
NM_013339.4(ALG6):c.27A>C (p.Val9=)
NM_013339.4(ALG6):c.288T>C (p.Ala96=)
NM_013339.4(ALG6):c.291C>T (p.Leu97=) rs1232614059
NM_013339.4(ALG6):c.297A>G (p.Thr99=) rs2100415439
NM_013339.4(ALG6):c.303T>A (p.Arg101=)
NM_013339.4(ALG6):c.318G>A (p.Gln106=) rs1316712862
NM_013339.4(ALG6):c.327G>A (p.Lys109=) rs1389168920
NM_013339.4(ALG6):c.346+11A>G
NM_013339.4(ALG6):c.346+12A>G
NM_013339.4(ALG6):c.346+13T>C
NM_013339.4(ALG6):c.346+15G>T
NM_013339.4(ALG6):c.346+16G>A rs76013640
NM_013339.4(ALG6):c.346+16G>T rs76013640
NM_013339.4(ALG6):c.346+20T>C
NM_013339.4(ALG6):c.346+8A>G
NM_013339.4(ALG6):c.347-14A>C
NM_013339.4(ALG6):c.347-17T>C
NM_013339.4(ALG6):c.420T>A (p.Thr140=) rs150097046
NM_013339.4(ALG6):c.429+9T>C
NM_013339.4(ALG6):c.430-10G>C
NM_013339.4(ALG6):c.430-18C>T
NM_013339.4(ALG6):c.430-19A>G
NM_013339.4(ALG6):c.435T>A (p.Ala145=)
NM_013339.4(ALG6):c.442T>C (p.Leu148=)
NM_013339.4(ALG6):c.448A>G (p.Ile150Val) rs571644669
NM_013339.4(ALG6):c.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.454C>T (p.Leu152=)
NM_013339.4(ALG6):c.456G>A (p.Leu152=) rs751956471
NM_013339.4(ALG6):c.459T>C (p.Tyr153=) rs887812609
NM_013339.4(ALG6):c.474T>C (p.Leu158=) rs2100417592
NM_013339.4(ALG6):c.489T>C (p.His163=) rs2100417628
NM_013339.4(ALG6):c.495-10A>C
NM_013339.4(ALG6):c.495-6G>A
NM_013339.4(ALG6):c.495-8A>G rs2100420744
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.504T>C (p.Ser168=)
NM_013339.4(ALG6):c.507G>A (p.Val169=)
NM_013339.4(ALG6):c.510T>C (p.Ser170=)
NM_013339.4(ALG6):c.51A>C (p.Val17=) rs2100378459
NM_013339.4(ALG6):c.531T>A (p.Gly177=) rs1644513973
NM_013339.4(ALG6):c.546T>C (p.Ser182=) rs762983061
NM_013339.4(ALG6):c.546T>G (p.Ser182=)
NM_013339.4(ALG6):c.552C>T (p.Asp184=)
NM_013339.4(ALG6):c.561C>T (p.Leu187=) rs2100420841
NM_013339.4(ALG6):c.562C>T (p.Leu188=)
NM_013339.4(ALG6):c.564A>G (p.Leu188=) rs755149107
NM_013339.4(ALG6):c.576A>G (p.Ala192=) rs1421405856
NM_013339.4(ALG6):c.597T>C (p.Tyr199=) rs2100420873
NM_013339.4(ALG6):c.600A>G (p.Lys200=)
NM_013339.4(ALG6):c.60A>G (p.Thr20=)
NM_013339.4(ALG6):c.621C>A (p.Ala207=) rs2100420899
NM_013339.4(ALG6):c.622T>C (p.Leu208=)
NM_013339.4(ALG6):c.636C>T (p.Cys212=)
NM_013339.4(ALG6):c.63G>A (p.Val21=)
NM_013339.4(ALG6):c.63G>T (p.Val21=) rs1647908648
NM_013339.4(ALG6):c.651G>A (p.Lys217=)
NM_013339.4(ALG6):c.660A>G (p.Lys220=) rs2100420972
NM_013339.4(ALG6):c.680+10T>C
NM_013339.4(ALG6):c.680+11T>G
NM_013339.4(ALG6):c.680+12T>C rs777324596
NM_013339.4(ALG6):c.680+19C>T
NM_013339.4(ALG6):c.680+8del
NM_013339.4(ALG6):c.681-16T>G
NM_013339.4(ALG6):c.681-17C>A
NM_013339.4(ALG6):c.681-17C>G
NM_013339.4(ALG6):c.681-19A>C
NM_013339.4(ALG6):c.681-4_681-3insGTTTTTTTGTTTGTTT
NM_013339.4(ALG6):c.699G>A (p.Lys233=)
NM_013339.4(ALG6):c.720T>G (p.Ala240=) rs2100421596
NM_013339.4(ALG6):c.723C>G (p.Ser241=)
NM_013339.4(ALG6):c.732C>T (p.Leu244=) rs528739746
NM_013339.4(ALG6):c.741G>T (p.Leu247=) rs1644518821
NM_013339.4(ALG6):c.750T>C (p.Phe250=) rs2100421671
NM_013339.4(ALG6):c.762A>G (p.Glu254=) rs1392863186
NM_013339.4(ALG6):c.769C>T (p.Leu257=)
NM_013339.4(ALG6):c.771G>A (p.Leu257=) rs2100421694
NM_013339.4(ALG6):c.774G>A (p.Gln258=)
NM_013339.4(ALG6):c.780A>G (p.Leu260=)
NM_013339.4(ALG6):c.798T>C (p.Val266=)
NM_013339.4(ALG6):c.804T>C (p.Arg268=) rs1644519126
NM_013339.4(ALG6):c.816+11del
NM_013339.4(ALG6):c.816+12C>A
NM_013339.4(ALG6):c.816+14C>A
NM_013339.4(ALG6):c.816+16T>C
NM_013339.4(ALG6):c.816+18C>A rs2100421763
NM_013339.4(ALG6):c.816+19C>T
NM_013339.4(ALG6):c.816+8T>A
NM_013339.4(ALG6):c.817-8C>G
NM_013339.4(ALG6):c.82+12T>G
NM_013339.4(ALG6):c.82+13T>A
NM_013339.4(ALG6):c.82+17G>C
NM_013339.4(ALG6):c.82+18G>A
NM_013339.4(ALG6):c.82+7C>T rs2100378518
NM_013339.4(ALG6):c.82+8A>G
NM_013339.4(ALG6):c.82+9T>G
NM_013339.4(ALG6):c.83-20C>A
NM_013339.4(ALG6):c.83-8G>T
NM_013339.4(ALG6):c.83-9T>G
NM_013339.4(ALG6):c.852C>G (p.Val284=) rs912739738
NM_013339.4(ALG6):c.864T>A (p.Ile288=)
NM_013339.4(ALG6):c.867G>A (p.Lys289=)
NM_013339.4(ALG6):c.879A>G (p.Pro293=) rs2100423371
NM_013339.4(ALG6):c.87T>C (p.Ala29=) rs2100404896
NM_013339.4(ALG6):c.885C>T (p.His295=) rs1271043295
NM_013339.4(ALG6):c.888C>T (p.Ile296=) rs2100423389
NM_013339.4(ALG6):c.892T>C (p.Leu298=)
NM_013339.4(ALG6):c.902+11_902+14del rs2100423419
NM_013339.4(ALG6):c.902+12A>T
NM_013339.4(ALG6):c.902+13A>G
NM_013339.4(ALG6):c.902+7G>T rs372337207
NM_013339.4(ALG6):c.903-11T>G
NM_013339.4(ALG6):c.903-16T>C
NM_013339.4(ALG6):c.903-20G>T rs756370228
NM_013339.4(ALG6):c.903-4T>C rs2100425042
NM_013339.4(ALG6):c.903-7T>C
NM_013339.4(ALG6):c.903-8T>C
NM_013339.4(ALG6):c.915G>C (p.Thr305=) rs112769742
NM_013339.4(ALG6):c.915G>T (p.Thr305=) rs112769742
NM_013339.4(ALG6):c.919T>C (p.Leu307=)
NM_013339.4(ALG6):c.927G>C (p.Leu309=) rs2100425098
NM_013339.4(ALG6):c.946T>C (p.Leu316=) rs2100425118
NM_013339.4(ALG6):c.960C>T (p.Pro320=)
NM_013339.4(ALG6):c.984A>C (p.Thr328=)
NM_013339.4(ALG6):c.984A>G (p.Thr328=)
NM_013339.4(ALG6):c.985C>T (p.Leu329=) rs1422218414
NM_013339.4(ALG6):c.987+11C>A rs1557592881
NM_013339.4(ALG6):c.987+14T>C
NM_013339.4(ALG6):c.988-13T>G
NM_013339.4(ALG6):c.988-14C>T
NM_013339.4(ALG6):c.988-14_988-13del
NM_013339.4(ALG6):c.988-15C>A
NM_013339.4(ALG6):c.988-16C>A
NM_013339.4(ALG6):c.988-16C>T
NM_013339.4(ALG6):c.988-18C>T
NM_013339.4(ALG6):c.988-5T>C
NM_013339.4(ALG6):c.988-7C>A
NM_013339.4(ALG6):c.988-7dup
NM_013339.4(ALG6):c.988-8T>C rs1644561783
NM_013339.4(ALG6):c.999G>C (p.Ala333=)
NM_013339.4(ALG6):c.999G>T (p.Ala333=)
NM_013339.4(ALG6):c.9A>G (p.Lys3=) rs2100378404
NM_014908.4(DOLK):c.1059C>T (p.Ile353=) rs1167712176
NM_014908.4(DOLK):c.1065C>T (p.Asp355=)
NM_014908.4(DOLK):c.1071A>G (p.Pro357=)
NM_014908.4(DOLK):c.1110C>T (p.Phe370=)
NM_014908.4(DOLK):c.1116C>T (p.Phe372=)
NM_014908.4(DOLK):c.1140C>T (p.Arg380=)
NM_014908.4(DOLK):c.1149T>C (p.Pro383=) rs1554826752
NM_014908.4(DOLK):c.1170C>T (p.Ser390=)
NM_014908.4(DOLK):c.1176G>T (p.Leu392=) rs1229430506
NM_014908.4(DOLK):c.1286A>G (p.Lys429Arg) rs574562542
NM_014908.4(DOLK):c.129G>C (p.Ser43=) rs372068885
NM_014908.4(DOLK):c.1320C>G (p.Pro440=)
NM_014908.4(DOLK):c.1332C>T (p.Val444=)
NM_014908.4(DOLK):c.1359G>A (p.Val453=) rs2131127011
NM_014908.4(DOLK):c.1362C>T (p.Ala454=) rs2131127008
NM_014908.4(DOLK):c.1380C>T (p.Thr460=) rs1372552063
NM_014908.4(DOLK):c.1395C>G (p.Arg465=)
NM_014908.4(DOLK):c.1395C>T (p.Arg465=) rs1045763502
NM_014908.4(DOLK):c.1407C>T (p.Thr469=)
NM_014908.4(DOLK):c.141G>A (p.Val47=)
NM_014908.4(DOLK):c.1482C>T (p.Asp494=)
NM_014908.4(DOLK):c.1509T>C (p.Tyr503=) rs1331692893
NM_014908.4(DOLK):c.1536T>G (p.Thr512=)
NM_014908.4(DOLK):c.1563A>G (p.Thr521=)
NM_014908.4(DOLK):c.1596C>G (p.Leu532=)
NM_014908.4(DOLK):c.15C>T (p.Cys5=)
NM_014908.4(DOLK):c.1603T>C (p.Leu535=)
NM_014908.4(DOLK):c.207C>G (p.Ala69=)
NM_014908.4(DOLK):c.207C>T (p.Ala69=) rs145764316
NM_014908.4(DOLK):c.231A>G (p.Ala77=) rs1035319147
NM_014908.4(DOLK):c.244T>C (p.Leu82=) rs1588262895
NM_014908.4(DOLK):c.261C>T (p.Val87=)
NM_014908.4(DOLK):c.27C>G (p.Ala9=) rs2131129465
NM_014908.4(DOLK):c.294G>A (p.Arg98=) rs876657456
NM_014908.4(DOLK):c.339G>A (p.Val113=) rs2131128893
NM_014908.4(DOLK):c.387G>A (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.387G>C (p.Ala129=) rs761831947
NM_014908.4(DOLK):c.390C>G (p.Leu130=) rs774441866
NM_014908.4(DOLK):c.390C>T (p.Leu130=)
NM_014908.4(DOLK):c.426C>T (p.Val142=) rs1465958631
NM_014908.4(DOLK):c.45G>T (p.Pro15=) rs2131129425
NM_014908.4(DOLK):c.46C>T (p.Leu16=) rs933503741
NM_014908.4(DOLK):c.495C>A (p.Ile165=) rs149177994
NM_014908.4(DOLK):c.516G>A (p.Leu172=)
NM_014908.4(DOLK):c.522C>T (p.Phe174=) rs770077124
NM_014908.4(DOLK):c.534C>T (p.Asn178=) rs1201588280
NM_014908.4(DOLK):c.540C>A (p.Ile180=)
NM_014908.4(DOLK):c.543G>T (p.Leu181=)
NM_014908.4(DOLK):c.549C>T (p.Tyr183=)
NM_014908.4(DOLK):c.597T>A (p.Gly199=)
NM_014908.4(DOLK):c.61C>T (p.Leu21=)
NM_014908.4(DOLK):c.693A>G (p.Val231=) rs2131128273
NM_014908.4(DOLK):c.699G>T (p.Gly233=) rs2131128256
NM_014908.4(DOLK):c.708C>T (p.Leu236=) rs1177109504
NM_014908.4(DOLK):c.732G>A (p.Leu244=)
NM_014908.4(DOLK):c.738C>T (p.Val246=)
NM_014908.4(DOLK):c.747C>T (p.Asp249=) rs2131128124
NM_014908.4(DOLK):c.816A>G (p.Leu272=) rs1841671262
NM_014908.4(DOLK):c.834C>A (p.Leu278=)
NM_014908.4(DOLK):c.864T>C (p.Leu288=)
NM_014908.4(DOLK):c.915T>C (p.Ser305=) rs2131127826
NM_014908.4(DOLK):c.919C>T (p.Leu307=) rs927774250
NM_014908.4(DOLK):c.966G>C (p.Arg322=)
NM_014908.4(DOLK):c.975C>A (p.Ser325=) rs149462670
NM_014908.4(DOLK):c.975C>G (p.Ser325=)
NM_019109.5(ALG1):c.102T>C (p.His34=)
NM_019109.5(ALG1):c.1038C>T (p.Pro346=)
NM_019109.5(ALG1):c.1042C>T (p.Leu348=) rs2142722071
NM_019109.5(ALG1):c.1059C>T (p.Tyr353=)
NM_019109.5(ALG1):c.1062C>A (p.Pro354=)
NM_019109.5(ALG1):c.1062C>G (p.Pro354=)
NM_019109.5(ALG1):c.1062C>T (p.Pro354=) rs909468865
NM_019109.5(ALG1):c.1065G>A (p.Leu355=)
NM_019109.5(ALG1):c.1072+11A>G
NM_019109.5(ALG1):c.1072+12G>A
NM_019109.5(ALG1):c.1072+13C>A
NM_019109.5(ALG1):c.1072+13C>T
NM_019109.5(ALG1):c.1072+16G>A
NM_019109.5(ALG1):c.1072+20C>G
NM_019109.5(ALG1):c.1072+20C>T
NM_019109.5(ALG1):c.1072+8G>T
NM_019109.5(ALG1):c.1073-12_1073-11del rs1381566017
NM_019109.5(ALG1):c.1073-14C>T
NM_019109.5(ALG1):c.1073-19C>T
NM_019109.5(ALG1):c.1080G>C (p.Ala360=)
NM_019109.5(ALG1):c.1080G>T (p.Ala360=) rs143939207
NM_019109.5(ALG1):c.1086G>C (p.Leu362=)
NM_019109.5(ALG1):c.1098G>C (p.Leu366=)
NM_019109.5(ALG1):c.1117C>T (p.Leu373=)
NM_019109.5(ALG1):c.1128C>A (p.Pro376=)
NM_019109.5(ALG1):c.1140G>A (p.Val380=) rs2142725780
NM_019109.5(ALG1):c.1143C>T (p.Asp381=) rs753000258
NM_019109.5(ALG1):c.1187+12A>G
NM_019109.5(ALG1):c.1187+13C>A
NM_019109.5(ALG1):c.1187+14C>T
NM_019109.5(ALG1):c.1187+15C>G
NM_019109.5(ALG1):c.1187+17A>C
NM_019109.5(ALG1):c.1187+9A>G
NM_019109.5(ALG1):c.1188-10C>G
NM_019109.5(ALG1):c.1188-13G>C
NM_019109.5(ALG1):c.1188-14G>C
NM_019109.5(ALG1):c.1188-17C>G
NM_019109.5(ALG1):c.1188-8C>G
NM_019109.5(ALG1):c.1188-8C>T
NM_019109.5(ALG1):c.1200G>T (p.Leu400=)
NM_019109.5(ALG1):c.1203G>A (p.Val401=)
NM_019109.5(ALG1):c.120G>C (p.Leu40=)
NM_019109.5(ALG1):c.1227C>G (p.Val409=)
NM_019109.5(ALG1):c.1236C>T (p.Asp412=)
NM_019109.5(ALG1):c.123C>G (p.Gly41=)
NM_019109.5(ALG1):c.123C>T (p.Gly41=)
NM_019109.5(ALG1):c.1260G>A (p.Leu420=)
NM_019109.5(ALG1):c.1263+10T>G
NM_019109.5(ALG1):c.1263+13G>C
NM_019109.5(ALG1):c.1263+14C>T
NM_019109.5(ALG1):c.1263+17C>T rs1567172251
NM_019109.5(ALG1):c.1263+8C>A
NM_019109.5(ALG1):c.1263+9G>A
NM_019109.5(ALG1):c.1272C>T (p.Phe424=)
NM_019109.5(ALG1):c.1292C>T (p.Ala431Val) rs370439294
NM_019109.5(ALG1):c.12A>G (p.Ser4=)
NM_019109.5(ALG1):c.12A>T (p.Ser4=)
NM_019109.5(ALG1):c.1302A>T (p.Leu434=)
NM_019109.5(ALG1):c.1314G>C (p.Arg438=)
NM_019109.5(ALG1):c.1317G>A (p.Lys439=)
NM_019109.5(ALG1):c.1324C>A (p.Arg442=)
NM_019109.5(ALG1):c.1326G>A (p.Arg442=)
NM_019109.5(ALG1):c.1329G>A (p.Glu443=)
NM_019109.5(ALG1):c.132C>T (p.Gly44=)
NM_019109.5(ALG1):c.1332G>A (p.Ser444=) rs554183734
NM_019109.5(ALG1):c.1335G>A (p.Gln445=)
NM_019109.5(ALG1):c.1341C>G (p.Leu447=)
NM_019109.5(ALG1):c.1344A>G (p.Arg448=)
NM_019109.5(ALG1):c.1365G>A (p.Gln455=)
NM_019109.5(ALG1):c.1368T>A (p.Thr456=) rs1455567093
NM_019109.5(ALG1):c.1392A>G (p.Thr464=)
NM_019109.5(ALG1):c.156C>T (p.His52=)
NM_019109.5(ALG1):c.15C>T (p.Cys5=)
NM_019109.5(ALG1):c.160C>T (p.Leu54=)
NM_019109.5(ALG1):c.162G>T (p.Leu54=) rs2142698659
NM_019109.5(ALG1):c.165G>C (p.Ser55=) rs2142698676
NM_019109.5(ALG1):c.16T>C (p.Leu6=)
NM_019109.5(ALG1):c.177C>T (p.His59=)
NM_019109.5(ALG1):c.183C>T (p.Phe61=)
NM_019109.5(ALG1):c.189G>A (p.Val63=) rs2142698777
NM_019109.5(ALG1):c.18G>T (p.Leu6Phe) rs758274229
NM_019109.5(ALG1):c.201G>C (p.Gly67=)
NM_019109.5(ALG1):c.204C>T (p.Phe68=) rs545347166
NM_019109.5(ALG1):c.208+13G>C
NM_019109.5(ALG1):c.208+17_208+18insCGTC
NM_019109.5(ALG1):c.208+18_208+19insATCT
NM_019109.5(ALG1):c.208+18_208+19insTTCT
NM_019109.5(ALG1):c.208+19G>A
NM_019109.5(ALG1):c.208+19_208+20insTTTG
NM_019109.5(ALG1):c.209-10C>T rs749446443
NM_019109.5(ALG1):c.209-14T>A rs769870335
NM_019109.5(ALG1):c.209-15A>G
NM_019109.5(ALG1):c.209-16C>T
NM_019109.5(ALG1):c.209-18A>C rs536671036
NM_019109.5(ALG1):c.209-20G>A
NM_019109.5(ALG1):c.209-4T>A
NM_019109.5(ALG1):c.210C>T (p.Asn70=) rs1376984579
NM_019109.5(ALG1):c.213C>G (p.Ser71=)
NM_019109.5(ALG1):c.21C>G (p.Val7=)
NM_019109.5(ALG1):c.228G>A (p.Glu76=)
NM_019109.5(ALG1):c.231C>G (p.Leu77=)
NM_019109.5(ALG1):c.244A>C (p.Arg82=)
NM_019109.5(ALG1):c.258G>C (p.Val86=)
NM_019109.5(ALG1):c.25C>T (p.Leu9=) rs771370322
NM_019109.5(ALG1):c.261G>A (p.Gly87=)
NM_019109.5(ALG1):c.267A>C (p.Thr89=) rs768454735
NM_019109.5(ALG1):c.267A>G (p.Thr89=)
NM_019109.5(ALG1):c.267A>T (p.Thr89=) rs768454735
NM_019109.5(ALG1):c.27G>A (p.Leu9=)
NM_019109.5(ALG1):c.27G>C (p.Leu9=)
NM_019109.5(ALG1):c.27G>T (p.Leu9=)
NM_019109.5(ALG1):c.286+10C>G
NM_019109.5(ALG1):c.286+11G>A rs1475023645
NM_019109.5(ALG1):c.286+15A>G
NM_019109.5(ALG1):c.286+16C>A
NM_019109.5(ALG1):c.286+16C>T
NM_019109.5(ALG1):c.286+20A>G
NM_019109.5(ALG1):c.286+8G>A rs375987369
NM_019109.5(ALG1):c.286+8G>T
NM_019109.5(ALG1):c.287-10T>C
NM_019109.5(ALG1):c.287-12T>C
NM_019109.5(ALG1):c.287-18G>A rs1567166306
NM_019109.5(ALG1):c.287-19G>A
NM_019109.5(ALG1):c.287-9G>T
NM_019109.5(ALG1):c.288T>C (p.Val96=)
NM_019109.5(ALG1):c.30G>A (p.Ala10=)
NM_019109.5(ALG1):c.30G>C (p.Ala10=)
NM_019109.5(ALG1):c.30G>T (p.Ala10=)
NM_019109.5(ALG1):c.312A>C (p.Gly104=)
NM_019109.5(ALG1):c.31C>T (p.Leu11=)
NM_019109.5(ALG1):c.324A>G (p.Val108=)
NM_019109.5(ALG1):c.33G>T (p.Leu11=)
NM_019109.5(ALG1):c.363G>A (p.Arg121=)
NM_019109.5(ALG1):c.366G>A (p.Glu122=)
NM_019109.5(ALG1):c.369A>G (p.Pro123=)
NM_019109.5(ALG1):c.372T>C (p.Gly124=)
NM_019109.5(ALG1):c.387C>G (p.Leu129=)
NM_019109.5(ALG1):c.390+11G>A
NM_019109.5(ALG1):c.390+11G>C
NM_019109.5(ALG1):c.390+13C>G
NM_019109.5(ALG1):c.390+15C>T
NM_019109.5(ALG1):c.390+17G>A
NM_019109.5(ALG1):c.390+18C>T
NM_019109.5(ALG1):c.390+9C>T
NM_019109.5(ALG1):c.391-12T>C
NM_019109.5(ALG1):c.391-13C>T
NM_019109.5(ALG1):c.391-16T>C
NM_019109.5(ALG1):c.391-17G>C
NM_019109.5(ALG1):c.391-20C>T
NM_019109.5(ALG1):c.391-5C>T
NM_019109.5(ALG1):c.393C>T (p.Asn131=)
NM_019109.5(ALG1):c.396C>T (p.Pro132=)
NM_019109.5(ALG1):c.399A>G (p.Pro133=) rs200506666
NM_019109.5(ALG1):c.39G>A (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.39G>C (p.Leu13=) rs751409028
NM_019109.5(ALG1):c.40C>T (p.Leu14=)
NM_019109.5(ALG1):c.42G>T (p.Leu14=)
NM_019109.5(ALG1):c.43C>T (p.Leu15=)
NM_019109.5(ALG1):c.456C>T (p.Leu152=) rs764878109
NM_019109.5(ALG1):c.496C>T (p.Leu166=)
NM_019109.5(ALG1):c.49C>T (p.Leu17=)
NM_019109.5(ALG1):c.507C>T (p.Gly169=)
NM_019109.5(ALG1):c.525T>G (p.Val175=)
NM_019109.5(ALG1):c.531G>T (p.Leu177=)
NM_019109.5(ALG1):c.534C>T (p.Ala178=)
NM_019109.5(ALG1):c.539+10T>C
NM_019109.5(ALG1):c.539+19G>A
NM_019109.5(ALG1):c.539+20G>A
NM_019109.5(ALG1):c.539+7G>T
NM_019109.5(ALG1):c.540-14A>T rs750808125
NM_019109.5(ALG1):c.540-20C>G
NM_019109.5(ALG1):c.540-8C>T rs2142712041
NM_019109.5(ALG1):c.54G>A (p.Leu18=)
NM_019109.5(ALG1):c.558G>T (p.Gly186=)
NM_019109.5(ALG1):c.55C>T (p.Leu19=)
NM_019109.5(ALG1):c.562C>T (p.Leu188=) rs2142712145
NM_019109.5(ALG1):c.564G>C (p.Leu188=)
NM_019109.5(ALG1):c.564G>T (p.Leu188=)
NM_019109.5(ALG1):c.567C>T (p.Ser189=)
NM_019109.5(ALG1):c.577C>T (p.Leu193=)
NM_019109.5(ALG1):c.588C>G (p.Thr196=)
NM_019109.5(ALG1):c.609G>C (p.Leu203=)
NM_019109.5(ALG1):c.612G>A (p.Ala204=)
NM_019109.5(ALG1):c.624C>T (p.His208=)
NM_019109.5(ALG1):c.629+11C>G
NM_019109.5(ALG1):c.629+13G>A
NM_019109.5(ALG1):c.629+16A>G
NM_019109.5(ALG1):c.629+17T>C
NM_019109.5(ALG1):c.629+17_629+32dup
NM_019109.5(ALG1):c.629+19A>G
NM_019109.5(ALG1):c.629+20_629+34del
NM_019109.5(ALG1):c.629+7T>C
NM_019109.5(ALG1):c.629+9G>T
NM_019109.5(ALG1):c.630-13G>A rs559171127
NM_019109.5(ALG1):c.630-13G>C rs559171127
NM_019109.5(ALG1):c.630-16C>T
NM_019109.5(ALG1):c.630-18G>A rs545873278
NM_019109.5(ALG1):c.630-18G>T
NM_019109.5(ALG1):c.630-19C>A
NM_019109.5(ALG1):c.630-19C>T rs371014838
NM_019109.5(ALG1):c.630-20C>T
NM_019109.5(ALG1):c.630-5T>C
NM_019109.5(ALG1):c.630-7A>G
NM_019109.5(ALG1):c.639C>A (p.Thr213=)
NM_019109.5(ALG1):c.645C>T (p.Tyr215=)
NM_019109.5(ALG1):c.654C>A (p.Pro218=)
NM_019109.5(ALG1):c.654C>G (p.Pro218=)
NM_019109.5(ALG1):c.657A>T (p.Ala219=)
NM_019109.5(ALG1):c.672G>A (p.Glu224=)
NM_019109.5(ALG1):c.684C>T (p.Asp228=)
NM_019109.5(ALG1):c.687G>A (p.Leu229=)
NM_019109.5(ALG1):c.696G>T (p.Arg232=)
NM_019109.5(ALG1):c.699C>G (p.Leu233=)
NM_019109.5(ALG1):c.6G>T (p.Ala2=) rs1340289136
NM_019109.5(ALG1):c.702C>T (p.Phe234=)
NM_019109.5(ALG1):c.729G>A (p.Pro243=)
NM_019109.5(ALG1):c.740+10C>T
NM_019109.5(ALG1):c.740+16T>A
NM_019109.5(ALG1):c.740+20C>T
NM_019109.5(ALG1):c.741-12C>G
NM_019109.5(ALG1):c.741-12dup
NM_019109.5(ALG1):c.741-13del rs749328532
NM_019109.5(ALG1):c.741-15T>C
NM_019109.5(ALG1):c.741-20C>T
NM_019109.5(ALG1):c.741-6C>T
NM_019109.5(ALG1):c.741-8T>C
NM_019109.5(ALG1):c.741-9C>T
NM_019109.5(ALG1):c.750T>G (p.Pro250=)
NM_019109.5(ALG1):c.756C>T (p.Asp252=) rs776990267
NM_019109.5(ALG1):c.762C>G (p.Val254=)
NM_019109.5(ALG1):c.768G>A (p.Glu256=)
NM_019109.5(ALG1):c.774G>A (p.Ser258=)
NM_019109.5(ALG1):c.783G>A (p.Thr261=)
NM_019109.5(ALG1):c.792T>C (p.Asp264=)
NM_019109.5(ALG1):c.801C>T (p.Ser267=) rs770104406
NM_019109.5(ALG1):c.813G>A (p.Thr271=)
NM_019109.5(ALG1):c.819C>G (p.Leu273=)
NM_019109.5(ALG1):c.819C>T (p.Leu273=) rs1292939104
NM_019109.5(ALG1):c.828G>A (p.Arg276=) rs2142716095
NM_019109.5(ALG1):c.834C>T (p.Ala278=)
NM_019109.5(ALG1):c.835C>T (p.Leu279=)
NM_019109.5(ALG1):c.837G>C (p.Leu279=)
NM_019109.5(ALG1):c.852G>A (p.Thr284=)
NM_019109.5(ALG1):c.862+12C>T
NM_019109.5(ALG1):c.863-10C>T
NM_019109.5(ALG1):c.863-12C>G
NM_019109.5(ALG1):c.863-15A>C rs371947976
NM_019109.5(ALG1):c.863-15A>T
NM_019109.5(ALG1):c.863-17C>A
NM_019109.5(ALG1):c.863-17C>G
NM_019109.5(ALG1):c.863-8T>C
NM_019109.5(ALG1):c.879C>T (p.Ser293=)
NM_019109.5(ALG1):c.87G>T (p.Gly29=) rs754060914
NM_019109.5(ALG1):c.883C>T (p.Leu295=)
NM_019109.5(ALG1):c.885G>C (p.Leu295=)
NM_019109.5(ALG1):c.885G>T (p.Leu295=)
NM_019109.5(ALG1):c.88C>A (p.Arg30=)
NM_019109.5(ALG1):c.901+13C>T
NM_019109.5(ALG1):c.901+16C>T
NM_019109.5(ALG1):c.901+17G>A
NM_019109.5(ALG1):c.901+18G>C
NM_019109.5(ALG1):c.901+18G>T
NM_019109.5(ALG1):c.901+20G>T
NM_019109.5(ALG1):c.902-10C>G
NM_019109.5(ALG1):c.902-16C>G
NM_019109.5(ALG1):c.902-17T>C
NM_019109.5(ALG1):c.902-20G>C
NM_019109.5(ALG1):c.902-5C>T rs1956983341
NM_019109.5(ALG1):c.902-8A>G
NM_019109.5(ALG1):c.912A>G (p.Gln304=)
NM_019109.5(ALG1):c.921T>C (p.Leu307=)
NM_019109.5(ALG1):c.921T>G (p.Leu307=)
NM_019109.5(ALG1):c.927A>G (p.Gly309=)
NM_019109.5(ALG1):c.930C>T (p.His310=)
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_019109.5(ALG1):c.951T>C (p.Cys317=)
NM_019109.5(ALG1):c.954G>A (p.Val318=) rs1291495506
NM_019109.5(ALG1):c.954G>C (p.Val318=)
NM_019109.5(ALG1):c.95C>A (p.Ala32Asp) rs376723766
NM_019109.5(ALG1):c.961+14C>A
NM_019109.5(ALG1):c.961+16C>G
NM_019109.5(ALG1):c.961+19G>T
NM_019109.5(ALG1):c.961+20G>A
NM_019109.5(ALG1):c.961+8C>G rs371353008
NM_019109.5(ALG1):c.961+8C>T rs371353008
NM_019109.5(ALG1):c.961+9T>C
NM_019109.5(ALG1):c.962-12T>C
NM_019109.5(ALG1):c.962-18C>T
NM_019109.5(ALG1):c.969G>A (p.Gly323=)
NM_019109.5(ALG1):c.969G>T (p.Gly323=)
NM_019109.5(ALG1):c.96C>A (p.Ala32=)
NM_019109.5(ALG1):c.96C>G (p.Ala32=)
NM_019109.5(ALG1):c.975G>C (p.Leu325=)
NM_019109.5(ALG1):c.97C>A (p.Arg33=)
NM_019109.5(ALG1):c.981G>A (p.Glu327=)
NM_019109.5(ALG1):c.987T>C (p.Tyr329=)
NM_019109.5(ALG1):c.996C>T (p.Leu332=)
NM_019109.5(ALG1):c.9C>T (p.Ala3=)
NM_021645.6(UTP14C):c.-486-14G>T rs752238208
NM_021645.6(UTP14C):c.-486-7T>C rs2140846961
NM_024079.5(ALG8):c.1020C>T (p.Cys340=)
NM_024079.5(ALG8):c.1038+16A>G
NM_024079.5(ALG8):c.1039-19C>G
NM_024079.5(ALG8):c.1116C>T (p.Ser372=)
NM_024079.5(ALG8):c.1227G>C (p.Leu409=) rs1590803789
NM_024079.5(ALG8):c.1277-10_1277-8del rs764468497
NM_024079.5(ALG8):c.1356A>G (p.Glu452=)
NM_024079.5(ALG8):c.1386C>T (p.Phe462=)
NM_024079.5(ALG8):c.1443C>G (p.Thr481=) rs746756065
NM_024079.5(ALG8):c.1443C>T (p.Thr481=)
NM_024079.5(ALG8):c.1467C>T (p.Phe489=)
NM_024079.5(ALG8):c.1485C>G (p.Thr495=)
NM_024079.5(ALG8):c.1554T>C (p.Ser518=)
NM_024079.5(ALG8):c.192G>A (p.Thr64=)
NM_024079.5(ALG8):c.345A>C (p.Val115=)
NM_024079.5(ALG8):c.354G>A (p.Val118=)
NM_024079.5(ALG8):c.368+13C>A
NM_024079.5(ALG8):c.368+16G>T
NM_024079.5(ALG8):c.435G>A (p.Leu145=)
NM_024079.5(ALG8):c.441A>G (p.Val147=)
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024079.5(ALG8):c.504T>C (p.Phe168=)
NM_024079.5(ALG8):c.54G>T (p.Ala18=)
NM_024079.5(ALG8):c.643C>A (p.Arg215=)
NM_024079.5(ALG8):c.739T>C (p.Leu247=)
NM_024079.5(ALG8):c.757T>C (p.Leu253=)
NM_024079.5(ALG8):c.898+10C>T
NM_024079.5(ALG8):c.96-15A>G
NM_024079.5(ALG8):c.96-6G>A rs199911532
NM_024079.5(ALG8):c.993A>T (p.Ser331=) rs758856513
NM_024105.4(ALG12):c.1023C>T (p.Tyr341=)
NM_024105.4(ALG12):c.1032G>T (p.Gly344=) rs2147580579
NM_024105.4(ALG12):c.1041T>C (p.Leu347=) rs2147580566
NM_024105.4(ALG12):c.1047C>T (p.Ile349=) rs182006999
NM_024105.4(ALG12):c.1050A>G (p.Gly350=)
NM_024105.4(ALG12):c.1056C>T (p.Leu352=)
NM_024105.4(ALG12):c.105G>A (p.Glu35=)
NM_024105.4(ALG12):c.1083G>A (p.Thr361=)
NM_024105.4(ALG12):c.1149G>A (p.Val383=) rs778616092
NM_024105.4(ALG12):c.1152C>T (p.Pro384=)
NM_024105.4(ALG12):c.1163-13C>T
NM_024105.4(ALG12):c.1163-20G>A
NM_024105.4(ALG12):c.1163-4C>T
NM_024105.4(ALG12):c.1163-9T>C rs2060530812
NM_024105.4(ALG12):c.1171C>T (p.Leu391=)
NM_024105.4(ALG12):c.1176C>T (p.His392=)
NM_024105.4(ALG12):c.1191C>T (p.Ala397=)
NM_024105.4(ALG12):c.1238+12_1238+24del
NM_024105.4(ALG12):c.1238+14A>C
NM_024105.4(ALG12):c.1238+18C>G rs753109798
NM_024105.4(ALG12):c.1238+7T>G rs756526998
NM_024105.4(ALG12):c.1239-17C>A rs2147579777
NM_024105.4(ALG12):c.1239-8T>C
NM_024105.4(ALG12):c.1266G>A (p.Pro422=) rs771112093
NM_024105.4(ALG12):c.1272A>C (p.Thr424=)
NM_024105.4(ALG12):c.1284A>G (p.Ala428=)
NM_024105.4(ALG12):c.1287C>T (p.Tyr429=)
NM_024105.4(ALG12):c.1308G>T (p.Ala436=)
NM_024105.4(ALG12):c.1317G>A (p.Gly439=)
NM_024105.4(ALG12):c.1326C>G (p.Ala442=)
NM_024105.4(ALG12):c.1338C>T (p.Asp446=)
NM_024105.4(ALG12):c.133C>T (p.Leu45=)
NM_024105.4(ALG12):c.1347G>A (p.Arg449=)
NM_024105.4(ALG12):c.1353G>C (p.Leu451=)
NM_024105.4(ALG12):c.1386G>A (p.Leu462=)
NM_024105.4(ALG12):c.1404C>T (p.Pro468=)
NM_024105.4(ALG12):c.1425G>A (p.Gln475=)
NM_024105.4(ALG12):c.1452C>T (p.Leu484=) rs772352960
NM_024105.4(ALG12):c.1458G>A (p.Arg486=)
NM_024105.4(ALG12):c.162+10C>A
NM_024105.4(ALG12):c.162+11C>T
NM_024105.4(ALG12):c.162+18T>C rs2060593030
NM_024105.4(ALG12):c.163-14C>T
NM_024105.4(ALG12):c.163-19C>T
NM_024105.4(ALG12):c.163-4G>T
NM_024105.4(ALG12):c.163-8C>T
NM_024105.4(ALG12):c.168C>T (p.Asp56=)
NM_024105.4(ALG12):c.180C>T (p.Phe60=) rs202026974
NM_024105.4(ALG12):c.189C>A (p.Val63=)
NM_024105.4(ALG12):c.192C>A (p.Val64=)
NM_024105.4(ALG12):c.201G>A (p.Thr67=)
NM_024105.4(ALG12):c.222C>A (p.Ile74=)
NM_024105.4(ALG12):c.222C>T (p.Ile74=)
NM_024105.4(ALG12):c.231C>T (p.Phe77=)
NM_024105.4(ALG12):c.249C>T (p.Tyr83=)
NM_024105.4(ALG12):c.273C>T (p.Ser91=)
NM_024105.4(ALG12):c.282C>T (p.Tyr94=)
NM_024105.4(ALG12):c.295+19A>G
NM_024105.4(ALG12):c.296-18G>A
NM_024105.4(ALG12):c.306G>C (p.Val102=)
NM_024105.4(ALG12):c.30G>A (p.Arg10=) rs770005800
NM_024105.4(ALG12):c.318C>T (p.Gly106=)
NM_024105.4(ALG12):c.330A>G (p.Gly110=)
NM_024105.4(ALG12):c.333C>G (p.Leu111=)
NM_024105.4(ALG12):c.360G>T (p.Arg120=)
NM_024105.4(ALG12):c.363C>T (p.His121=)
NM_024105.4(ALG12):c.378G>A (p.Val126=)
NM_024105.4(ALG12):c.384C>T (p.Thr128=)
NM_024105.4(ALG12):c.40C>T (p.Leu14=)
NM_024105.4(ALG12):c.411G>A (p.Gln137=)
NM_024105.4(ALG12):c.417C>T (p.His139=)
NM_024105.4(ALG12):c.438G>A (p.Arg146=)
NM_024105.4(ALG12):c.441A>G (p.Thr147=)
NM_024105.4(ALG12):c.450T>C (p.Asn150=)
NM_024105.4(ALG12):c.45G>T (p.Gly15=)
NM_024105.4(ALG12):c.462G>A (p.Leu154=)
NM_024105.4(ALG12):c.462G>C (p.Leu154=)
NM_024105.4(ALG12):c.462G>T (p.Leu154=)
NM_024105.4(ALG12):c.469+15G>T
NM_024105.4(ALG12):c.470-12A>G rs191669043
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.470-14G>A
NM_024105.4(ALG12):c.470-5T>C
NM_024105.4(ALG12):c.470-6T>C
NM_024105.4(ALG12):c.470-8T>C rs1326072016
NM_024105.4(ALG12):c.471C>A (p.Val157=)
NM_024105.4(ALG12):c.474G>C (p.Leu158=)
NM_024105.4(ALG12):c.480C>T (p.Ala160=)
NM_024105.4(ALG12):c.483C>T (p.Leu161=)
NM_024105.4(ALG12):c.486G>C (p.Ala162=)
NM_024105.4(ALG12):c.48G>A (p.Leu16=) rs143508665
NM_024105.4(ALG12):c.493C>T (p.Leu165=) rs778040010
NM_024105.4(ALG12):c.49C>T (p.Leu17=) rs2146614917
NM_024105.4(ALG12):c.543C>T (p.Ile181=)
NM_024105.4(ALG12):c.561G>A (p.Leu187=) rs1601823586
NM_024105.4(ALG12):c.571C>T (p.Leu191=)
NM_024105.4(ALG12):c.580C>T (p.Leu194=) rs2146607719
NM_024105.4(ALG12):c.595T>C (p.Leu199=)
NM_024105.4(ALG12):c.612T>G (p.Val204=)
NM_024105.4(ALG12):c.630T>G (p.Leu210=)
NM_024105.4(ALG12):c.633C>T (p.Arg211=)
NM_024105.4(ALG12):c.636C>T (p.His212=)
NM_024105.4(ALG12):c.642C>G (p.Val214=)
NM_024105.4(ALG12):c.657C>G (p.Leu219=) rs2146607505
NM_024105.4(ALG12):c.664+11C>T
NM_024105.4(ALG12):c.664+14T>C
NM_024105.4(ALG12):c.664+16_664+17del
NM_024105.4(ALG12):c.665-11T>C
NM_024105.4(ALG12):c.665-17_665-16del rs1473790663
NM_024105.4(ALG12):c.665-20A>T
NM_024105.4(ALG12):c.66T>C (p.Thr22=) rs1449442041
NM_024105.4(ALG12):c.729T>C (p.Leu243=)
NM_024105.4(ALG12):c.72C>T (p.His24=)
NM_024105.4(ALG12):c.768+14T>C
NM_024105.4(ALG12):c.768+14T>G
NM_024105.4(ALG12):c.769-10C>G rs910838469
NM_024105.4(ALG12):c.769-11C>G
NM_024105.4(ALG12):c.769-12C>T
NM_024105.4(ALG12):c.769-4G>A
NM_024105.4(ALG12):c.769-5C>T
NM_024105.4(ALG12):c.774C>G (p.Ser258=)
NM_024105.4(ALG12):c.789C>T (p.Tyr263=) rs2147585338
NM_024105.4(ALG12):c.802C>T (p.Leu268=) rs1490287472
NM_024105.4(ALG12):c.804G>A (p.Leu268=)
NM_024105.4(ALG12):c.804G>C (p.Leu268=) rs771276914
NM_024105.4(ALG12):c.810C>T (p.Arg270=)
NM_024105.4(ALG12):c.81C>T (p.Ile27=) rs2146614807
NM_024105.4(ALG12):c.831C>G (p.Leu277=) rs753341759
NM_024105.4(ALG12):c.840C>T (p.Pro280=)
NM_024105.4(ALG12):c.846C>T (p.Gly282=)
NM_024105.4(ALG12):c.864G>T (p.Thr288=)
NM_024105.4(ALG12):c.870G>A (p.Ala290=)
NM_024105.4(ALG12):c.873G>T (p.Pro291=) rs200080075
NM_024105.4(ALG12):c.903C>G (p.Leu301=)
NM_024105.4(ALG12):c.942C>T (p.Ile314=)
NM_024105.4(ALG12):c.948C>G (p.Ala316=)
NM_024105.4(ALG12):c.981C>T (p.Gly327=)
NM_024105.4(ALG12):c.992+10C>T
NM_024105.4(ALG12):c.993-8T>G
NM_024592.5(SRD5A3):c.114C>T (p.Gly38=)
NM_024592.5(SRD5A3):c.144C>T (p.Asp48=)
NM_024592.5(SRD5A3):c.171T>C (p.Cys57=)
NM_024592.5(SRD5A3):c.221+13C>T
NM_024592.5(SRD5A3):c.221+7G>A
NM_024592.5(SRD5A3):c.222-19G>C
NM_024592.5(SRD5A3):c.222-20C>T
NM_024592.5(SRD5A3):c.243C>T (p.Ile81=)
NM_024592.5(SRD5A3):c.345C>T (p.Leu115=)
NM_024592.5(SRD5A3):c.351G>A (p.Ala117=)
NM_024592.5(SRD5A3):c.364+18T>A
NM_024592.5(SRD5A3):c.563-16A>C
NM_024592.5(SRD5A3):c.586T>C (p.Leu196=)
NM_024592.5(SRD5A3):c.627G>A (p.Met209Ile)
NM_024592.5(SRD5A3):c.63G>A (p.Thr21=)
NM_024592.5(SRD5A3):c.697+13T>C
NM_024592.5(SRD5A3):c.789C>T (p.Tyr263=)
NM_024592.5(SRD5A3):c.918C>T (p.Tyr306=)
NM_024592.5(SRD5A3):c.927T>C (p.His309=)
NM_024592.5(SRD5A3):c.942A>G (p.Leu314=) rs1488770806
NM_024740.2(ALG9):c.114C>G (p.Gly38=)
NM_024740.2(ALG9):c.1173+18G>A
NM_024740.2(ALG9):c.1174-5A>T
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024740.2(ALG9):c.131+10C>T
NM_024740.2(ALG9):c.131+7G>C
NM_024740.2(ALG9):c.132-13_132-12insTTG
NM_024740.2(ALG9):c.132-19T>G
NM_024740.2(ALG9):c.132-20T>G
NM_024740.2(ALG9):c.1320C>T (p.Phe440=)
NM_024740.2(ALG9):c.1324+10C>T
NM_024740.2(ALG9):c.1350T>C (p.Tyr450=)
NM_024740.2(ALG9):c.1377C>T (p.Asp459=) rs2136830008
NM_024740.2(ALG9):c.141G>A (p.Gly47=)
NM_024740.2(ALG9):c.1500G>A (p.Glu500=)
NM_024740.2(ALG9):c.1567A>G (p.Met523Val)
NM_024740.2(ALG9):c.1644C>G (p.Thr548=)
NM_024740.2(ALG9):c.1733+19A>G
NM_024740.2(ALG9):c.1733+9C>T
NM_024740.2(ALG9):c.1734-15T>C
NM_024740.2(ALG9):c.1734-16dup
NM_024740.2(ALG9):c.270+17G>C
NM_024740.2(ALG9):c.271-10G>A
NM_024740.2(ALG9):c.27C>T (p.Arg9=)
NM_024740.2(ALG9):c.294A>G (p.Glu98=)
NM_024740.2(ALG9):c.405+9A>T
NM_024740.2(ALG9):c.414G>A (p.Val138=)
NM_024740.2(ALG9):c.546C>A (p.Gly182=)
NM_024740.2(ALG9):c.702-9_702-8del
NM_024740.2(ALG9):c.790-20T>C
NM_024740.2(ALG9):c.846C>T (p.Leu282=)
NM_033087.4(ALG2):c.1047C>T (p.Pro349=) rs1588618685
NM_033087.4(ALG2):c.1056C>G (p.Ser352=)
NM_033087.4(ALG2):c.1062C>T (p.Asp354=)
NM_033087.4(ALG2):c.1068T>C (p.Ser356=)
NM_033087.4(ALG2):c.108G>A (p.Ala36=)
NM_033087.4(ALG2):c.1107C>T (p.Phe369=)
NM_033087.4(ALG2):c.1110A>C (p.Ser370=) rs369062018
NM_033087.4(ALG2):c.1110A>G (p.Ser370=)
NM_033087.4(ALG2):c.1185G>A (p.Lys395=)
NM_033087.4(ALG2):c.118C>T (p.Leu40=)
NM_033087.4(ALG2):c.1191A>G (p.Lys397=) rs2118997478
NM_033087.4(ALG2):c.1248A>G (p.Val416=) rs1828721761
NM_033087.4(ALG2):c.135T>C (p.Cys45=)
NM_033087.4(ALG2):c.144G>A (p.Lys48=)
NM_033087.4(ALG2):c.147C>T (p.Ile49=)
NM_033087.4(ALG2):c.18C>T (p.Gly6=)
NM_033087.4(ALG2):c.195G>A (p.Glu65=)
NM_033087.4(ALG2):c.196C>T (p.Leu66=) rs763273127
NM_033087.4(ALG2):c.213C>A (p.Ala71=)
NM_033087.4(ALG2):c.213C>G (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.213C>T (p.Ala71=) rs768862419
NM_033087.4(ALG2):c.216G>C (p.Gly72=)
NM_033087.4(ALG2):c.228G>C (p.Pro76=)
NM_033087.4(ALG2):c.246C>T (p.Gly82=)
NM_033087.4(ALG2):c.258C>T (p.Ala86=) rs1057521308
NM_033087.4(ALG2):c.264C>G (p.Val88=) rs1015050313
NM_033087.4(ALG2):c.264C>T (p.Val88=)
NM_033087.4(ALG2):c.297C>G (p.Leu99=)
NM_033087.4(ALG2):c.306G>C (p.Leu102=)
NM_033087.4(ALG2):c.309C>T (p.Phe103=)
NM_033087.4(ALG2):c.315C>T (p.Ala105=) rs1588620487
NM_033087.4(ALG2):c.324G>A (p.Glu108=)
NM_033087.4(ALG2):c.327C>T (p.Phe109=)
NM_033087.4(ALG2):c.339G>A (p.Val113=) rs1554708016
NM_033087.4(ALG2):c.348+10C>A
NM_033087.4(ALG2):c.348+10C>T
NM_033087.4(ALG2):c.348+14G>A rs2119007123
NM_033087.4(ALG2):c.348+18C>T
NM_033087.4(ALG2):c.348+20G>A
NM_033087.4(ALG2):c.348+7C>T
NM_033087.4(ALG2):c.348+8G>C rs1230090169
NM_033087.4(ALG2):c.351G>T (p.Val117=)
NM_033087.4(ALG2):c.42G>A (p.Lys14=)
NM_033087.4(ALG2):c.453T>A (p.Leu151=)
NM_033087.4(ALG2):c.57C>T (p.Phe19=)
NM_033087.4(ALG2):c.627C>T (p.Asp209=) rs1187766399
NM_033087.4(ALG2):c.660C>A (p.Val220=)
NM_033087.4(ALG2):c.666G>A (p.Lys222=)
NM_033087.4(ALG2):c.675A>G (p.Lys225=)
NM_033087.4(ALG2):c.69C>T (p.Asp23=) rs764985375
NM_033087.4(ALG2):c.717T>C (p.Asn239=) rs1588618893
NM_033087.4(ALG2):c.729A>C (p.Ala243=)
NM_033087.4(ALG2):c.729A>T (p.Ala243=) rs748947069
NM_033087.4(ALG2):c.75C>G (p.Gly25=) rs1410757499
NM_033087.4(ALG2):c.760T>C (p.Leu254=) rs62562374
NM_033087.4(ALG2):c.795C>A (p.Ile265=) rs183416022
NM_033087.4(ALG2):c.81C>T (p.Gly27=)
NM_033087.4(ALG2):c.873C>T (p.Ser291=)
NM_033087.4(ALG2):c.918A>G (p.Lys306=)
NM_033087.4(ALG2):c.957T>C (p.Leu319=)
NM_033087.4(ALG2):c.96G>A (p.Leu32=)
NM_033087.4(ALG2):c.984C>G (p.Gly328=)
NM_052859.4(RFT1):c.1003C>T (p.Leu335=) rs2107109171
NM_052859.4(RFT1):c.1008C>G (p.Ala336=) rs199734288
NM_052859.4(RFT1):c.1009C>T (p.Leu337=) rs1701393196
NM_052859.4(RFT1):c.1020C>T (p.Gly340=) rs766360090
NM_052859.4(RFT1):c.1032T>A (p.Thr344=)
NM_052859.4(RFT1):c.1102+17T>C
NM_052859.4(RFT1):c.1102+8C>A
NM_052859.4(RFT1):c.1103-14T>C
NM_052859.4(RFT1):c.1103-5T>C rs1338060752
NM_052859.4(RFT1):c.1103-6T>C
NM_052859.4(RFT1):c.1103-8C>A rs1701250241
NM_052859.4(RFT1):c.1143G>C (p.Leu381=)
NM_052859.4(RFT1):c.1167G>A (p.Glu389=)
NM_052859.4(RFT1):c.1197G>A (p.Glu399=) rs765986260
NM_052859.4(RFT1):c.1208+11T>C
NM_052859.4(RFT1):c.1208+7A>G
NM_052859.4(RFT1):c.1209-18T>C
NM_052859.4(RFT1):c.129C>T (p.Ile43=) rs148510042
NM_052859.4(RFT1):c.1326G>A (p.Arg442=)
NM_052859.4(RFT1):c.1332G>T (p.Thr444=) rs139487607
NM_052859.4(RFT1):c.1341T>G (p.Leu447=) rs2107071678
NM_052859.4(RFT1):c.1359C>T (p.Tyr453=)
NM_052859.4(RFT1):c.1386G>A (p.Leu462=)
NM_052859.4(RFT1):c.138A>G (p.Val46=) rs1702095360
NM_052859.4(RFT1):c.1398C>T (p.His466=)
NM_052859.4(RFT1):c.1401A>T (p.Leu467=)
NM_052859.4(RFT1):c.1404G>A (p.Ser468=) rs1366809549
NM_052859.4(RFT1):c.1416C>T (p.Leu472=)
NM_052859.4(RFT1):c.144T>C (p.Asn48=)
NM_052859.4(RFT1):c.1458+15G>C
NM_052859.4(RFT1):c.1458+16C>T
NM_052859.4(RFT1):c.1459-14G>A
NM_052859.4(RFT1):c.1459-14G>T rs1295786345
NM_052859.4(RFT1):c.1459-17A>G
NM_052859.4(RFT1):c.1476G>A (p.Glu492=) rs1701005503
NM_052859.4(RFT1):c.1479G>A (p.Gln493=) rs780448463
NM_052859.4(RFT1):c.149+16C>G rs201161797
NM_052859.4(RFT1):c.150-14C>T
NM_052859.4(RFT1):c.150-17C>T
NM_052859.4(RFT1):c.1515G>A (p.Gly505=)
NM_052859.4(RFT1):c.153A>G (p.Leu51=)
NM_052859.4(RFT1):c.1560G>A (p.Glu520=) rs369800703
NM_052859.4(RFT1):c.156G>T (p.Thr52=)
NM_052859.4(RFT1):c.1581C>T (p.Leu527=) rs2107069217
NM_052859.4(RFT1):c.1608C>G (p.Arg536=)
NM_052859.4(RFT1):c.1608C>T (p.Arg536=)
NM_052859.4(RFT1):c.18G>T (p.Val6=)
NM_052859.4(RFT1):c.249C>T (p.Leu83=)
NM_052859.4(RFT1):c.24C>G (p.Gly8=) rs2107183365
NM_052859.4(RFT1):c.253C>T (p.Leu85=)
NM_052859.4(RFT1):c.266+13T>A
NM_052859.4(RFT1):c.266+20G>A
NM_052859.4(RFT1):c.267-16T>A rs2107165275
NM_052859.4(RFT1):c.267-4C>G
NM_052859.4(RFT1):c.267-4C>T rs1473728720
NM_052859.4(RFT1):c.267-5T>A
NM_052859.4(RFT1):c.273C>G (p.Pro91=)
NM_052859.4(RFT1):c.27C>T (p.His9=)
NM_052859.4(RFT1):c.30G>A (p.Ala10=)
NM_052859.4(RFT1):c.324T>C (p.Leu108=) rs2107164889
NM_052859.4(RFT1):c.33C>T (p.Ala11=)
NM_052859.4(RFT1):c.34C>A (p.Arg12=)
NM_052859.4(RFT1):c.351T>C (p.Pro117=)
NM_052859.4(RFT1):c.373C>T (p.Leu125=) rs1701996497
NM_052859.4(RFT1):c.384C>T (p.Leu128=)
NM_052859.4(RFT1):c.405A>G (p.Leu135=)
NM_052859.4(RFT1):c.457-19C>G rs2107162471
NM_052859.4(RFT1):c.477G>A (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.477G>C (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.498G>A (p.Leu166=)
NM_052859.4(RFT1):c.501A>G (p.Thr167=)
NM_052859.4(RFT1):c.510C>T (p.Leu170=)
NM_052859.4(RFT1):c.54C>T (p.Leu18=)
NM_052859.4(RFT1):c.558+10A>G
NM_052859.4(RFT1):c.559-14del
NM_052859.4(RFT1):c.559-20C>T rs2107157946
NM_052859.4(RFT1):c.58C>T (p.Leu20=)
NM_052859.4(RFT1):c.613C>T (p.Leu205=)
NM_052859.4(RFT1):c.63+11C>A
NM_052859.4(RFT1):c.63+12C>T rs755841835
NM_052859.4(RFT1):c.63+19G>T rs2107182991
NM_052859.4(RFT1):c.63+20T>C
NM_052859.4(RFT1):c.642A>G (p.Gln214=)
NM_052859.4(RFT1):c.66G>A (p.Val22=) rs2107173481
NM_052859.4(RFT1):c.697-11_697-10dup
NM_052859.4(RFT1):c.697-24GTTTT[2]
NM_052859.4(RFT1):c.697-24GTTTT[4] rs763098152
NM_052859.4(RFT1):c.697-7_697-3del rs1354146170
NM_052859.4(RFT1):c.699G>A (p.Ala233=) rs763683975
NM_052859.4(RFT1):c.738T>C (p.Phe246=)
NM_052859.4(RFT1):c.744A>G (p.Lys248=)
NM_052859.4(RFT1):c.762G>A (p.Gln254=)
NM_052859.4(RFT1):c.775+20G>A rs961442737
NM_052859.4(RFT1):c.775+20G>C
NM_052859.4(RFT1):c.775+9A>C
NM_052859.4(RFT1):c.776-13T>G
NM_052859.4(RFT1):c.776-16G>T
NM_052859.4(RFT1):c.776-5T>C rs2107119402
NM_052859.4(RFT1):c.786T>C (p.Tyr262=)
NM_052859.4(RFT1):c.826+16G>A
NM_052859.4(RFT1):c.827-3dup
NM_052859.4(RFT1):c.945A>G (p.Thr315=)
NM_052859.4(RFT1):c.954G>A (p.Lys318=)
NM_052859.4(RFT1):c.958-13_958-9del
NM_052859.4(RFT1):c.958-19C>G
NM_052859.4(RFT1):c.958-7G>C rs997959901
NM_052859.4(RFT1):c.958-9T>G
NM_138459.5(NUS1):c.114G>C (p.Arg38=)
NM_138459.5(NUS1):c.117C>G (p.Arg39=)
NM_138459.5(NUS1):c.117C>T (p.Arg39=) rs1333336720
NM_138459.5(NUS1):c.120C>T (p.Cys40=)
NM_138459.5(NUS1):c.138C>G (p.Ala46=)
NM_138459.5(NUS1):c.156C>G (p.Leu52=)
NM_138459.5(NUS1):c.165G>A (p.Thr55=)
NM_138459.5(NUS1):c.180G>A (p.Pro60=) rs1772967652
NM_138459.5(NUS1):c.195C>T (p.Asn65=)
NM_138459.5(NUS1):c.204C>T (p.His68=)
NM_138459.5(NUS1):c.216G>A (p.Pro72=)
NM_138459.5(NUS1):c.225G>C (p.Gly75=)
NM_138459.5(NUS1):c.231C>T (p.Cys77=)
NM_138459.5(NUS1):c.240C>A (p.Ala80=)
NM_138459.5(NUS1):c.240C>G (p.Ala80=)
NM_138459.5(NUS1):c.243A>G (p.Ala81=)
NM_138459.5(NUS1):c.249C>T (p.His83=)
NM_138459.5(NUS1):c.24G>T (p.Val8=) rs745434007
NM_138459.5(NUS1):c.270C>T (p.Asp90=)
NM_138459.5(NUS1):c.276T>C (p.Arg92=)
NM_138459.5(NUS1):c.280T>C (p.Leu94=)
NM_138459.5(NUS1):c.291G>A (p.Leu97=)
NM_138459.5(NUS1):c.30G>A (p.Arg10=)
NM_138459.5(NUS1):c.30G>T (p.Arg10=) rs937504375
NM_138459.5(NUS1):c.336C>T (p.Pro112=)
NM_138459.5(NUS1):c.351C>T (p.Ile117=)
NM_138459.5(NUS1):c.354G>A (p.Ala118=)
NM_138459.5(NUS1):c.360C>A (p.Leu120=) rs1772974013
NM_138459.5(NUS1):c.36G>A (p.Leu12=) rs2114674325
NM_138459.5(NUS1):c.390C>G (p.Ser130=)
NM_138459.5(NUS1):c.390C>T (p.Ser130=)
NM_138459.5(NUS1):c.393C>T (p.Tyr131=) rs1485120199
NM_138459.5(NUS1):c.39C>T (p.His13=)
NM_138459.5(NUS1):c.416-11C>T
NM_138459.5(NUS1):c.416-6T>C rs754507170
NM_138459.5(NUS1):c.416-6T>G rs754507170
NM_138459.5(NUS1):c.417T>C (p.Gly139=)
NM_138459.5(NUS1):c.459A>G (p.Leu153=) rs2114686717
NM_138459.5(NUS1):c.45G>C (p.Leu15=)
NM_138459.5(NUS1):c.45G>T (p.Leu15=)
NM_138459.5(NUS1):c.480G>A (p.Leu160=) rs2114686734
NM_138459.5(NUS1):c.519T>C (p.Asn173=)
NM_138459.5(NUS1):c.541+10A>C rs1051471000
NM_138459.5(NUS1):c.541+8T>C rs1250234517
NM_138459.5(NUS1):c.542-20T>C
NM_138459.5(NUS1):c.542-9T>A
NM_138459.5(NUS1):c.542-9T>C
NM_138459.5(NUS1):c.561A>T (p.Ala187=) rs767054326
NM_138459.5(NUS1):c.567G>A (p.Lys189=)
NM_138459.5(NUS1):c.573G>A (p.Leu191=) rs1052232
NM_138459.5(NUS1):c.573G>T (p.Leu191=)
NM_138459.5(NUS1):c.57C>T (p.His19=)
NM_138459.5(NUS1):c.585T>C (p.Asp195=)
NM_138459.5(NUS1):c.612T>C (p.Ala204=) rs1382268428
NM_138459.5(NUS1):c.627G>A (p.Gln209=)
NM_138459.5(NUS1):c.63G>C (p.Thr21=) rs550854234
NM_138459.5(NUS1):c.648G>A (p.Lys216=)
NM_138459.5(NUS1):c.669A>T (p.Val223=)
NM_138459.5(NUS1):c.66C>A (p.Leu22=) rs1772962927
NM_138459.5(NUS1):c.676T>C (p.Leu226=) rs1773283339
NM_138459.5(NUS1):c.681C>G (p.Ala227=)
NM_138459.5(NUS1):c.691+12T>A rs761687791
NM_138459.5(NUS1):c.691+12T>G rs761687791
NM_138459.5(NUS1):c.691+12TA[7] rs770616856
NM_138459.5(NUS1):c.691+19A>G rs1342549880
NM_138459.5(NUS1):c.691+7T>G rs1373920649
NM_138459.5(NUS1):c.691+8T>G
NM_138459.5(NUS1):c.692-18TATT[2]
NM_138459.5(NUS1):c.6G>C (p.Thr2=)
NM_138459.5(NUS1):c.750A>G (p.Thr250=)
NM_138459.5(NUS1):c.756C>T (p.Gly252=)
NM_138459.5(NUS1):c.762T>G (p.Leu254=) rs2114693923
NM_138459.5(NUS1):c.765C>T (p.Pro255=)
NM_138459.5(NUS1):c.791+16C>G
NM_138459.5(NUS1):c.791+16C>T
NM_138459.5(NUS1):c.791+7A>G rs749556280
NM_138459.5(NUS1):c.791+7A>T
NM_138459.5(NUS1):c.791+9_791+12del rs1213017281
NM_138459.5(NUS1):c.792-13G>T rs1185248187
NM_138459.5(NUS1):c.792-18C>T
NM_138459.5(NUS1):c.792-19C>T
NM_138459.5(NUS1):c.792-20C>T
NM_138459.5(NUS1):c.796T>C (p.Leu266=)
NM_138459.5(NUS1):c.807C>T (p.His269=)
NM_138459.5(NUS1):c.810A>G (p.Leu270=)
NM_138459.5(NUS1):c.825G>A (p.Glu275=)
NM_138459.5(NUS1):c.828C>T (p.Asp276=)
NM_138459.5(NUS1):c.867G>A (p.Gln289=)
NM_138459.5(NUS1):c.882G>A (p.Ter294=)
NM_138459.5(NUS1):c.90C>T (p.Phe30=)
NM_152713.5(STT3A):c.1775-8dup rs750373548
NM_153741.2(DPM3):c.111C>T (p.Val37=) rs2102491788
NM_153741.2(DPM3):c.39C>T (p.Ile13=)
NM_153741.2(DPM3):c.42G>A (p.Leu14=)
NM_153741.2(DPM3):c.48C>T (p.Ser16=) rs753265590
NM_153741.2(DPM3):c.6G>A (p.Thr2=)
NM_153741.2(DPM3):c.81C>T (p.Gly27=)
NM_178862.3(STT3B):c.1170T>C (p.Thr390=) rs753179796
NM_178862.3(STT3B):c.1500T>C (p.Asp500=)
NM_178862.3(STT3B):c.1533T>C (p.Tyr511=)
NM_178862.3(STT3B):c.1638A>G (p.Leu546=)
NM_178862.3(STT3B):c.1725T>C (p.Asp575=) rs1699478483
NM_178862.3(STT3B):c.1727+15C>T
NM_178862.3(STT3B):c.1899+15_1899+16del rs764481566
NM_178862.3(STT3B):c.1900-11A>T
NM_178862.3(STT3B):c.1900-12T>A
NM_178862.3(STT3B):c.201G>C (p.Gly67=)
NM_178862.3(STT3B):c.225C>T (p.Thr75=) rs564276250
NM_178862.3(STT3B):c.2349C>T (p.His783=)
NM_178862.3(STT3B):c.2361C>A (p.Val787=)
NM_178862.3(STT3B):c.2401-17_2401-16del
NM_178862.3(STT3B):c.264C>T (p.Arg88=) rs2125430322
NM_178862.3(STT3B):c.33C>T (p.His11=)
NM_178862.3(STT3B):c.424-5C>T rs1488969630
NM_178862.3(STT3B):c.525A>G (p.Pro175=)
NM_178862.3(STT3B):c.598T>C (p.Leu200=)
NM_178862.3(STT3B):c.765C>G (p.Ser255=) rs1698803700
NM_178862.3(STT3B):c.778-12C>A
NM_178862.3(STT3B):c.878-15A>G rs761971315
NM_178862.3(STT3B):c.976+7A>T rs2125471874
NM_201400.4(EEF2KMT):c.*891A>T rs3187779
NM_201400.4(EEF2KMT):c.*892A>C
NM_201400.4(EEF2KMT):c.*894T>A
NM_201400.4(EEF2KMT):c.*898G>C
NM_201400.4(EEF2KMT):c.*899A>T
NM_201400.4(EEF2KMT):c.*899del
NM_201400.4(EEF2KMT):c.*900G>C rs2142732074

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