ClinVar Miner

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

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3454
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HGVS dbSNP gnomAD frequency
NM_024740.2(ALG9):c.*2473A>T rs2554994 0.69652
NM_024740.2(ALG9):c.*2474A>T rs376483443 0.04275
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_024592.5(SRD5A3):c.*2641G>A rs75311188 0.01148
NM_024592.5(SRD5A3):c.*1329T>C rs115046277 0.01012
NM_024592.5(SRD5A3):c.*2112G>A rs143649104 0.00838
NM_024740.2(ALG9):c.*1607C>T rs117488631 0.00826
NM_024592.5(SRD5A3):c.*2915A>G rs62306203 0.00701
NM_000303.3(PMM2):c.*368C>G rs72766379 0.00580
NM_024740.2(ALG9):c.*1680G>T rs563719515 0.00575
NM_004870.4(MPDU1):c.*462C>T rs545206972 0.00524
NM_024740.2(ALG9):c.*1624A>C rs117091304 0.00485
NM_021645.6(UTP14C):c.508A>G (p.Ile170Val) rs73184339 0.00421
NM_004870.4(MPDU1):c.618+14C>T rs11078699 0.00407
NM_052859.4(RFT1):c.*2165T>C rs141744872 0.00407
NM_052859.4(RFT1):c.*2706C>T rs186393432 0.00407
NM_052859.4(RFT1):c.*2820G>A rs143710210 0.00369
NM_000303.3(PMM2):c.*492C>G rs548732618 0.00352
NM_001382.4(DPAGT1):c.*159G>A rs74992671 0.00320
NM_014908.4(DOLK):c.186G>A (p.Arg62=) rs148171062 0.00299
NM_024592.5(SRD5A3):c.*991C>T rs148298848 0.00298
NM_024592.5(SRD5A3):c.*1624G>A rs181336685 0.00283
NM_024592.5(SRD5A3):c.*104T>A rs116416011 0.00280
NM_024740.2(ALG9):c.*2230A>C rs116530919 0.00264
NM_024740.2(ALG9):c.*3471A>G rs186742619 0.00264
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_024592.5(SRD5A3):c.*2884C>T rs529368289 0.00230
NM_024105.4(ALG12):c.501C>T (p.His167=) rs149845730 0.00212
NM_014908.4(DOLK):c.771C>T (p.Ile257=) rs147416890 0.00205
NM_024105.4(ALG12):c.*1G>C rs138804791 0.00205
NM_024740.2(ALG9):c.*1722C>T rs186477879 0.00192
NM_052859.4(RFT1):c.5G>A (p.Gly2Asp) rs185366134 0.00187
NM_013339.4(ALG6):c.-207-12T>C rs183861757 0.00186
NM_201400.4(EEF2KMT):c.957G>C (p.Glu319Asp) rs142385356 0.00184
NM_004870.4(MPDU1):c.393C>T (p.Val131=) rs79286384 0.00178
NM_024740.2(ALG9):c.*3423T>C rs78243190 0.00176
NM_024592.5(SRD5A3):c.*2870A>G rs77437700 0.00173
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_024592.5(SRD5A3):c.-84G>C rs532409901 0.00170
NM_003859.3(DPM1):c.40C>T (p.Arg14Trp) rs117175017 0.00169
NM_024105.4(ALG12):c.359G>A (p.Arg120Gln) rs117687848 0.00169
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_024740.2(ALG9):c.1603-509A>G rs115136012 0.00163
NM_024079.5(ALG8):c.96-6G>C rs199911532 0.00160
NM_024740.2(ALG9):c.*3519C>A rs569799426 0.00145
NM_024105.4(ALG12):c.*363G>A rs568473076 0.00144
NM_024079.5(ALG8):c.675T>C (p.Asp225=) rs139106381 0.00138
NM_024592.5(SRD5A3):c.*242T>C rs559061546 0.00138
NM_002633.3(PGM1):c.1400C>A (p.Thr467Asn) rs150266274 0.00137
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_000303.3(PMM2):c.*1074T>C rs147284732 0.00129
NM_002633.3(PGM1):c.*236T>C rs534628770 0.00128
NM_052859.4(RFT1):c.*645C>T rs115646874 0.00126
NM_024740.2(ALG9):c.*1420C>G rs143933458 0.00121
NM_001382.4(DPAGT1):c.573C>T (p.Asn191=) rs62641715 0.00117
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_024105.4(ALG12):c.*393C>T rs550904403 0.00114
NM_024592.5(SRD5A3):c.110C>T (p.Pro37Leu) rs199975696 0.00114
NM_021645.6(UTP14C):c.739A>G (p.Lys247Glu) rs144970453 0.00113
NM_014908.4(DOLK):c.1079A>G (p.Tyr360Cys) rs138453255 0.00111
NM_024592.5(SRD5A3):c.*2306C>A rs565143999 0.00111
NM_001382.4(DPAGT1):c.*241T>C rs74657539 0.00109
NM_052859.4(RFT1):c.303C>G (p.Gly101=) rs148576979 0.00108
NM_024592.5(SRD5A3):c.*590C>T rs149214750 0.00105
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801 0.00103
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00103
NM_000303.3(PMM2):c.*410A>G rs77027373 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_021645.6(UTP14C):c.326T>A (p.Val109Asp) rs144752647 0.00095
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921 0.00094
NM_024740.2(ALG9):c.*3757T>C rs530143933 0.00093
NM_024592.5(SRD5A3):c.*854G>T rs79421332 0.00088
NM_000303.3(PMM2):c.*833G>A rs144056509 0.00086
NM_002435.3(MPI):c.*312T>A rs545401402 0.00086
NM_024105.4(ALG12):c.1299C>T (p.Leu433=) rs150614794 0.00083
NM_019109.5(ALG1):c.766G>A (p.Glu256Lys) rs147412842 0.00081
NM_021645.6(UTP14C):c.-486-6T>C rs200751186 0.00078
NM_024592.5(SRD5A3):c.*812T>C rs758820353 0.00078
NM_024740.2(ALG9):c.*3175G>A rs146182772 0.00078
NM_003863.3(DPM2):c.-587C>T rs566910080 0.00077
NM_024740.2(ALG9):c.*314G>A rs781928817 0.00077
NM_001382.4(DPAGT1):c.918-4G>A rs201656540 0.00073
NM_014908.4(DOLK):c.873C>T (p.Leu291=) rs148646968 0.00073
NM_002633.3(PGM1):c.572C>T (p.Ser191Leu) rs147971989 0.00072
NM_014908.4(DOLK):c.1314C>T (p.Leu438=) rs148118523 0.00071
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267 0.00068
NM_024105.4(ALG12):c.319G>A (p.Val107Met) rs147784926 0.00066
NM_024592.5(SRD5A3):c.*1665G>A rs534350836 0.00065
NM_024592.5(SRD5A3):c.*2248G>A rs757166668 0.00065
NM_003863.3(DPM2):c.-429G>T rs192275912 0.00064
NM_005216.5(DDOST):c.508G>A (p.Val170Ile) rs111334879 0.00063
NM_052859.4(RFT1):c.*2366T>A rs575340631 0.00063
NM_004341.5(CAD):c.5392C>A (p.Gln1798Lys) rs138840581 0.00062
NM_001382.4(DPAGT1):c.-152C>T rs540454811 0.00061
NM_001382.4(DPAGT1):c.330C>T (p.Phe110=) rs199994118 0.00061
NM_003863.3(DPM2):c.*627C>T rs544907409 0.00061
NM_024105.4(ALG12):c.652A>G (p.Ile218Val) rs146322225 0.00061
NM_002633.3(PGM1):c.-39C>G rs370035290 0.00060
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) rs148434423 0.00058
NM_024105.4(ALG12):c.469+5G>A rs375025860 0.00058
NM_024740.2(ALG9):c.*823A>G rs528387467 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_024105.4(ALG12):c.563G>A (p.Cys188Tyr) rs555600636 0.00055
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430 0.00055
NM_033087.4(ALG2):c.1132C>T (p.Arg378Cys) rs56393253 0.00054
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_000303.3(PMM2):c.*896G>A rs78930414 0.00051
NM_005216.5(DDOST):c.596C>T (p.Thr199Met) rs142593688 0.00051
NM_005216.5(DDOST):c.142C>T (p.Arg48Trp) rs140409217 0.00050
NM_005787.6(ALG3):c.971C>G (p.Ser324Cys) rs2233469 0.00049
NM_052859.4(RFT1):c.520T>C (p.Leu174=) rs149266076 0.00048
NM_012463.4(ATP6V0A2):c.1970C>T (p.Ala657Val) rs147641581 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_005216.5(DDOST):c.712G>A (p.Val238Ile) rs150551993 0.00046
NM_052859.4(RFT1):c.1133A>G (p.Tyr378Cys) rs143232904 0.00046
NM_001004127.2(ALG11):c.-23C>T rs201534348 0.00045
NM_002633.3(PGM1):c.1143C>T (p.Thr381=) rs140035988 0.00045
NM_013339.4(ALG6):c.*404T>C rs138529811 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_001004127.3(ALG11):c.1160A>C (p.Glu387Ala) rs115524395 0.00044
NM_004870.4(MPDU1):c.560C>T (p.Ala187Val) rs139686892 0.00044
NM_024740.2(ALG9):c.*1977A>G rs181231005 0.00043
NM_005216.5(DDOST):c.917A>G (p.Asn306Ser) rs764755742 0.00042
NM_001382.4(DPAGT1):c.729-4A>C rs199873583 0.00041
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_024105.4(ALG12):c.1362C>T (p.Val454=) rs12163163 0.00041
NM_024105.4(ALG12):c.242C>T (p.Ala81Val) rs142586266 0.00041
NM_000303.3(PMM2):c.657G>C (p.Glu219Asp) rs144040842 0.00039
NM_014908.4(DOLK):c.1481A>G (p.Asp494Gly) rs145292760 0.00039
NM_052859.4(RFT1):c.1331C>T (p.Thr444Met) rs147740901 0.00039
NM_138459.5(NUS1):c.640A>G (p.Lys214Glu) rs146171115 0.00039
NM_003863.4(DPM2):c.*553G>A rs886063480 0.00038
NM_024105.4(ALG12):c.1345C>T (p.Arg449Trp) rs141814567 0.00038
NM_024105.4(ALG12):c.1425G>C (p.Gln475His) rs147000290 0.00036
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647 0.00036
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_024592.5(SRD5A3):c.*2430C>T rs537128790 0.00035
NM_001382.4(DPAGT1):c.243C>T (p.Cys81=) rs138519099 0.00034
NM_003859.3(DPM1):c.19A>G (p.Ser7Gly) rs147804856 0.00034
NM_004870.4(MPDU1):c.338C>T (p.Thr113Met) rs141320993 0.00034
NM_024740.2(ALG9):c.*2114C>T rs45452093 0.00034
NM_024740.2(ALG9):c.*2287A>G rs185264895 0.00034
NM_024740.2(ALG9):c.*2414T>G rs189536081 0.00034
NM_052859.4(RFT1):c.*3068A>C rs571109920 0.00034
NM_052859.4(RFT1):c.1356C>T (p.Arg452=) rs113829901 0.00034
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024 0.00033
NM_024740.2(ALG9):c.*1536T>C rs782678326 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_153741.2(DPM3):c.55G>T (p.Val19Leu) rs141877691 0.00032
NM_014908.4(DOLK):c.1394G>A (p.Arg465His) rs148930043 0.00031
NM_019109.5(ALG1):c.769C>T (p.Arg257Trp) rs759843220 0.00031
NM_024079.5(ALG8):c.1506C>T (p.Gly502=) rs148820351 0.00031
NM_003859.3(DPM1):c.*248T>A rs1020154329 0.00030
NM_012463.4(ATP6V0A2):c.1106G>A (p.Arg369Gln) rs141310219 0.00030
NM_015354.3(NUP188):c.8C>T (p.Ala3Val) rs746695959 0.00030
NM_024105.4(ALG12):c.*475G>A rs186563620 0.00030
NM_000303.3(PMM2):c.*1434C>A rs546341789 0.00029
NM_000303.3(PMM2):c.*477G>A rs529074146 0.00029
NM_001382.4(DPAGT1):c.*265A>G rs28990974 0.00029
NM_001382.4(DPAGT1):c.125G>A (p.Cys42Tyr) rs375679649 0.00029
NM_003859.3(DPM1):c.22C>T (p.Arg8Cys) rs201392536 0.00029
NM_138459.5(NUS1):c.174G>T (p.Lys58Asn) rs761121795 0.00029
NM_052859.4(RFT1):c.*2457A>G rs560974236 0.00028
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_003863.3(DPM2):c.-211T>G rs187834148 0.00027
NM_004341.5(CAD):c.461A>G (p.Asn154Ser) rs147694325 0.00027
NM_001004127.3(ALG11):c.256T>G (p.Leu86Val) rs182350911 0.00026
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_005216.5(DDOST):c.509T>C (p.Val170Ala) rs146767054 0.00026
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_013339.4(ALG6):c.*47A>T rs372767276 0.00026
NM_024740.2(ALG9):c.741G>T (p.Arg247Ser) rs200946042 0.00026
NM_052859.4(RFT1):c.*2790G>A rs866438979 0.00026
NM_002435.3(MPI):c.671-4T>G rs199719453 0.00025
NM_002633.3(PGM1):c.734C>T (p.Ala245Val) rs929270819 0.00025
NM_024740.2(ALG9):c.1489A>G (p.Ile497Val) rs138584071 0.00025
NM_003863.3(DPM2):c.-612G>C rs886063487 0.00024
NM_005787.6(ALG3):c.933-4C>T rs190571910 0.00024
NM_014908.3(DOLK):c.-386C>A rs576979416 0.00024
NM_024105.4(ALG12):c.470-11C>T rs375328311 0.00024
NM_178862.3(STT3B):c.2366A>G (p.Asn789Ser) rs139208333 0.00024
NM_004870.4(MPDU1):c.*105G>A rs190574792 0.00023
NM_012463.4(ATP6V0A2):c.994G>A (p.Glu332Lys) rs144949442 0.00023
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_024740.2(ALG9):c.*2472T>A rs886047667 0.00023
NM_052859.4(RFT1):c.*127G>A rs570767824 0.00023
NM_002435.3(MPI):c.573C>T (p.Ala191=) rs200903491 0.00022
NM_003859.3(DPM1):c.385C>A (p.Pro129Thr) rs752831768 0.00022
NM_005787.6(ALG3):c.*152C>T rs186599528 0.00022
NM_024740.2(ALG9):c.*2457G>T rs201995459 0.00022
NM_033087.4(ALG2):c.472C>A (p.Pro158Thr) rs140382423 0.00022
NM_001004127.3(ALG11):c.535G>A (p.Ala179Thr) rs202195109 0.00021
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069 0.00021
NM_002633.3(PGM1):c.420A>G (p.Pro140=) rs141007881 0.00021
NM_024740.2(ALG9):c.*3213G>A rs939244636 0.00021
NM_052859.4(RFT1):c.*2789C>T rs371144725 0.00021
NM_052859.4(RFT1):c.831G>A (p.Val277=) rs150391936 0.00021
NM_000303.3(PMM2):c.*242C>T rs866278750 0.00020
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_138459.5(NUS1):c.224G>A (p.Gly75Glu) rs557867164 0.00020
NM_000303.3(PMM2):c.*52C>T rs565165106 0.00019
NM_000303.3(PMM2):c.*733C>T rs886052466 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00019
NM_001382.4(DPAGT1):c.1201C>T (p.Leu401Phe) rs150532554 0.00019
NM_002435.3(MPI):c.1178G>C (p.Gly393Ala) rs201815588 0.00019
NM_003863.3(DPM2):c.-523C>A rs1010662067 0.00019
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_014908.4(DOLK):c.*124A>G rs758102948 0.00019
NM_014908.4(DOLK):c.1437T>C (p.Ser479=) rs574290806 0.00019
NM_024079.5(ALG8):c.154A>G (p.Ile52Val) rs138293432 0.00019
NM_024079.5(ALG8):c.980C>G (p.Thr327Arg) rs141068538 0.00019
NM_024105.4(ALG12):c.1152C>G (p.Pro384=) rs375721419 0.00019
NM_024105.4(ALG12):c.1239G>C (p.Arg413Ser) rs142027212 0.00019
NM_033087.4(ALG2):c.399C>G (p.Ile133Met) rs371772900 0.00019
NM_052859.4(RFT1):c.*3093C>G rs886058710 0.00019
NM_052859.4(RFT1):c.*880C>G rs557106378 0.00019
NM_052859.4(RFT1):c.1283G>A (p.Ser428Asn) rs201230044 0.00019
NM_002633.3(PGM1):c.371A>G (p.Asn124Ser) rs367689770 0.00018
NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu) rs142016662 0.00018
NM_000303.3(PMM2):c.*1195G>T rs186712555 0.00017
NM_013339.4(ALG6):c.*1169G>A rs536772187 0.00017
NM_014908.4(DOLK):c.579G>A (p.Glu193=) rs28365522 0.00017
NM_024105.4(ALG12):c.1082C>T (p.Thr361Met) rs748537273 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024740.2(ALG9):c.*1832A>C rs772136205 0.00017
NM_002633.3(PGM1):c.1600-3C>T rs375450688 0.00016
NM_002633.3(PGM1):c.900T>C (p.His300=) rs145807501 0.00016
NM_003859.3(DPM1):c.779C>T (p.Thr260Ile) rs146262101 0.00016
NM_003863.3(DPM2):c.-141G>A rs886063485 0.00016
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) rs138962748 0.00016
NM_024105.4(ALG12):c.1057G>A (p.Val353Met) rs374327138 0.00016
NM_052859.4(RFT1):c.*1124T>A rs554646046 0.00016
NM_153741.2(DPM3):c.249C>A (p.Ala83=) rs193215070 0.00016
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_002435.3(MPI):c.1139G>A (p.Ser380Asn) rs141660799 0.00015
NM_003863.3(DPM2):c.*632T>C rs371958283 0.00015
NM_003863.4(DPM2):c.154G>A (p.Ala52Thr) rs147263320 0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133 0.00015
NM_024105.4(ALG12):c.55G>A (p.Ala19Thr) rs138266806 0.00015
NM_024592.5(SRD5A3):c.108G>T (p.Pro36=) rs200253126 0.00015
NM_052859.4(RFT1):c.*3286C>T rs766245126 0.00015
NM_052859.4(RFT1):c.1101C>T (p.Ser367=) rs139445704 0.00015
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_002633.3(PGM1):c.529T>G (p.Leu177Val) rs112293909 0.00014
NM_003859.3(DPM1):c.759A>G (p.Leu253=) rs769964944 0.00014
NM_005216.5(DDOST):c.752T>C (p.Phe251Ser) rs199782279 0.00014
NM_005787.6(ALG3):c.606-8C>T rs368253820 0.00014
NM_012463.4(ATP6V0A2):c.658A>G (p.Ile220Val) rs763991801 0.00014
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val) rs144209926 0.00014
NM_024592.5(SRD5A3):c.*1518C>T rs780042332 0.00014
NM_024592.5(SRD5A3):c.*2983T>C rs924086302 0.00014
NM_024592.5(SRD5A3):c.-27G>T rs778218591 0.00014
NM_033087.4(ALG2):c.217G>C (p.Asp73His) rs375634924 0.00014
NM_052859.4(RFT1):c.1049A>G (p.Tyr350Cys) rs148627975 0.00014
NM_052859.4(RFT1):c.136G>A (p.Val46Ile) rs141174358 0.00014
NM_001099922.3(ALG13):c.1313C>A (p.Thr438Lys) rs367783946 0.00013
NM_002633.3(PGM1):c.1028G>A (p.Arg343Gln) rs370265239 0.00013
NM_004341.5(CAD):c.1118G>A (p.Arg373Gln) rs779009526 0.00013
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_014908.4(DOLK):c.-194G>T rs886063516 0.00013
NM_014908.4(DOLK):c.633C>T (p.Arg211=) rs147647278 0.00013
NM_024105.4(ALG12):c.*33C>T rs531771418 0.00013
NM_024740.2(ALG9):c.-30G>A rs886047685 0.00013
NM_052859.4(RFT1):c.*242T>C rs565490076 0.00013
NM_052859.4(RFT1):c.104T>C (p.Ile35Thr) rs146354877 0.00013
NM_138459.5(NUS1):c.805C>T (p.His269Tyr) rs1038995750 0.00013
NM_178862.3(STT3B):c.758G>C (p.Cys253Ser) rs1008042824 0.00013
NM_000303.3(PMM2):c.149A>T (p.Glu50Val) rs182336960 0.00012
NM_001004127.3(ALG11):c.10G>A (p.Gly4Ser) rs201560109 0.00012
NM_001382.4(DPAGT1):c.496+3A>G rs565154071 0.00012
NM_012463.4(ATP6V0A2):c.539T>C (p.Ile180Thr) rs754727464 0.00012
NM_013339.4(ALG6):c.1361C>T (p.Thr454Met) rs138890428 0.00012
NM_014908.4(DOLK):c.1446G>A (p.Ala482=) rs201027607 0.00012
NM_019109.5(ALG1):c.812C>T (p.Thr271Met) rs368722637 0.00012
NM_002435.3(MPI):c.378G>A (p.Pro126=) rs752948071 0.00011
NM_002633.3(PGM1):c.1028+11C>A rs541069522 0.00011
NM_005216.5(DDOST):c.733G>A (p.Asp245Asn) rs780103981 0.00011
NM_012463.4(ATP6V0A2):c.1015C>T (p.Arg339Cys) rs200463200 0.00011
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp) rs562509297 0.00011
NM_019109.5(ALG1):c.1066C>G (p.Leu356Val) rs569498428 0.00011
NM_019109.5(ALG1):c.284C>T (p.Ala95Val) rs368284764 0.00011
NM_021645.6(UTP14C):c.-67A>T rs771744248 0.00011
NM_024079.5(ALG8):c.1516G>A (p.Ala506Thr) rs149692072 0.00011
NM_024105.4(ALG12):c.189C>T (p.Val63=) rs190345740 0.00011
NM_024592.5(SRD5A3):c.*261A>G rs576643627 0.00011
NM_024592.5(SRD5A3):c.*92G>A rs774927041 0.00011
NM_024592.5(SRD5A3):c.633C>G (p.Ile211Met) rs142711275 0.00011
NM_052859.4(RFT1):c.978T>C (p.Ala326=) rs372101755 0.00011
NM_000303.3(PMM2):c.*1136T>C rs574947575 0.00010
NM_000303.3(PMM2):c.*1348A>G rs188346349 0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000303.3(PMM2):c.66+5G>A rs375808631 0.00010
NM_001382.4(DPAGT1):c.-46C>T rs186992584 0.00010
NM_002435.3(MPI):c.662C>G (p.Ser221Cys) rs760911969 0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_012463.4(ATP6V0A2):c.920C>G (p.Ala307Gly) rs752306671 0.00010
NM_013339.4(ALG6):c.1442A>G (p.Asn481Ser) rs139521934 0.00010
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_014908.4(DOLK):c.379G>A (p.Val127Met) rs752310792 0.00010
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe) rs371529625 0.00010
NM_024105.4(ALG12):c.1158G>C (p.Gln386His) rs372390738 0.00010
NM_024740.2(ALG9):c.*906C>A rs147670080 0.00010
NM_024740.2(ALG9):c.-58A>G rs782440068 0.00010
NM_033087.4(ALG2):c.232G>C (p.Gly78Arg) rs1054683823 0.00010
NM_052859.4(RFT1):c.*1901G>A rs752158709 0.00010
NM_052859.4(RFT1):c.110G>A (p.Arg37His) rs139153173 0.00010
NM_052859.4(RFT1):c.827-14T>C rs571722733 0.00010
NM_052859.4(RFT1):c.884C>T (p.Pro295Leu) rs770676975 0.00010
NM_001099922.3(ALG13):c.1277A>G (p.Asn426Ser) rs1208820400 0.00009
NM_001099922.3(ALG13):c.1741A>G (p.Met581Val) rs373053138 0.00009
NM_001099922.3(ALG13):c.2437A>G (p.Thr813Ala) rs746099604 0.00009
NM_001382.4(DPAGT1):c.1154T>G (p.Leu385Arg) rs1016844949 0.00009
NM_002435.3(MPI):c.167G>A (p.Arg56Gln) rs200452019 0.00009
NM_002435.3(MPI):c.818A>G (p.Asn273Ser) rs150525282 0.00009
NM_002633.3(PGM1):c.253C>T (p.Arg85Cys) rs150286818 0.00009
NM_005216.5(DDOST):c.265+6G>C rs372328091 0.00009
NM_005787.6(ALG3):c.777C>T (p.Ser259=) rs142901178 0.00009
NM_012463.4(ATP6V0A2):c.1457C>T (p.Ser486Leu) rs201271558 0.00009
NM_012463.4(ATP6V0A2):c.28A>G (p.Met10Val) rs758214692 0.00009
NM_014908.4(DOLK):c.192A>G (p.Leu64=) rs563156233 0.00009
NM_019109.5(ALG1):c.815G>A (p.Arg272His) rs560302928 0.00009
NM_024105.4(ALG12):c.1216C>G (p.Leu406Val) rs772459313 0.00009
NM_024105.4(ALG12):c.1360G>A (p.Val454Ile) rs777096831 0.00009
NM_024105.4(ALG12):c.243G>A (p.Ala81=) rs564172046 0.00009
NM_024105.4(ALG12):c.714G>A (p.Pro238=) rs760973218 0.00009
NM_024740.2(ALG9):c.*2233A>G rs886047674 0.00009
NM_024740.2(ALG9):c.*229A>G rs781789551 0.00009
NM_033087.4(ALG2):c.1226G>A (p.Arg409Gln) rs369231996 0.00009
NM_033087.4(ALG2):c.968G>T (p.Ser323Ile) rs373454393 0.00009
NM_052859.4(RFT1):c.*2161C>T rs180693200 0.00009
NM_052859.4(RFT1):c.*2453T>C rs755371328 0.00009
NM_052859.4(RFT1):c.*649G>A rs915542340 0.00009
NM_052859.4(RFT1):c.267-3T>C rs778876601 0.00009
NM_138459.5(NUS1):c.629T>C (p.Leu210Ser) rs1052237 0.00009
NM_001099922.3(ALG13):c.1841G>C (p.Arg614Thr) rs752779777 0.00008
NM_001099922.3(ALG13):c.621A>T (p.Gly207=) rs371428241 0.00008
NM_001099922.3(ALG13):c.958C>G (p.Pro320Ala) rs750856311 0.00008
NM_001382.4(DPAGT1):c.*390A>G rs970354016 0.00008
NM_001382.4(DPAGT1):c.717C>T (p.Leu239=) rs377263230 0.00008
NM_002435.3(MPI):c.-5C>T rs145533697 0.00008
NM_003859.3(DPM1):c.*12T>C rs758875594 0.00008
NM_003859.3(DPM1):c.20G>A (p.Ser7Asn) rs776145598 0.00008
NM_003863.4(DPM2):c.-5G>A rs371551833 0.00008
NM_005787.5(ALG3):c.-26G>C rs747569137 0.00008
NM_013339.4(ALG6):c.*1004C>A rs886046477 0.00008
NM_013339.4(ALG6):c.1300T>A (p.Phe434Ile) rs200661626 0.00008
NM_019109.5(ALG1):c.457G>A (p.Val153Ile) rs750216032 0.00008
NM_024740.2(ALG9):c.*2907A>T rs782731018 0.00008
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470 0.00008
NM_033087.4(ALG2):c.389G>A (p.Arg130Gln) rs143625172 0.00008
NM_052859.4(RFT1):c.1388C>T (p.Ala463Val) rs763302334 0.00008
NM_052859.4(RFT1):c.533G>A (p.Gly178Glu) rs373067263 0.00008
NM_001099922.3(ALG13):c.1813G>A (p.Gly605Ser) rs773666398 0.00007
NM_001099922.3(ALG13):c.756T>G (p.Phe252Leu) rs915629293 0.00007
NM_001382.4(DPAGT1):c.484C>A (p.His162Asn) rs542516384 0.00007
NM_002435.3(MPI):c.849C>T (p.Cys283=) rs377419930 0.00007
NM_003859.3(DPM1):c.*159A>G rs775290919 0.00007
NM_003859.3(DPM1):c.261T>A (p.Ile87=) rs774440510 0.00007
NM_003859.3(DPM1):c.685A>G (p.Ile229Val) rs559946698 0.00007
NM_004870.4(MPDU1):c.450C>T (p.Pro150=) rs145983820 0.00007
NM_005787.6(ALG3):c.1243G>A (p.Val415Ile) rs375976807 0.00007
NM_005787.6(ALG3):c.248A>G (p.Asn83Ser) rs199565095 0.00007
NM_012463.4(ATP6V0A2):c.1111C>T (p.Arg371Cys) rs778381327 0.00007
NM_013339.4(ALG6):c.*670G>A rs367589530 0.00007
NM_013339.4(ALG6):c.1465T>G (p.Phe489Val) rs145152115 0.00007
NM_014908.4(DOLK):c.509T>G (p.Val170Gly) rs745609223 0.00007
NM_019109.5(ALG1):c.37C>G (p.Leu13Val) rs758104063 0.00007
NM_019109.5(ALG1):c.965A>G (p.Lys322Arg) rs145851409 0.00007
NM_021645.6(UTP14C):c.470T>G (p.Val157Gly) rs763915286 0.00007
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_024105.4(ALG12):c.1192G>A (p.Ala398Thr) rs773892105 0.00007
NM_024105.4(ALG12):c.385A>G (p.Met129Val) rs200068410 0.00007
NM_024592.5(SRD5A3):c.*2111G>T rs886059477 0.00007
NM_024592.5(SRD5A3):c.448G>A (p.Val150Ile) rs151267741 0.00007
NM_033087.4(ALG2):c.1054_1055insTGA (p.Ser352delinsLeuThr) rs763662395 0.00007
NM_052859.4(RFT1):c.*2991C>T rs891624907 0.00007
NM_052859.4(RFT1):c.964G>A (p.Val322Ile) rs143888206 0.00007
NM_138459.5(NUS1):c.271G>A (p.Gly91Ser) rs779673665 0.00007
NM_000303.3(PMM2):c.*1063C>T rs539046271 0.00006
NM_000303.3(PMM2):c.*1086G>A rs567957339 0.00006
NM_000303.3(PMM2):c.*246C>T rs756637944 0.00006
NM_000303.3(PMM2):c.*476C>T rs886052463 0.00006
NM_000303.3(PMM2):c.256-13T>G rs62031145 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000303.3(PMM2):c.426T>G (p.Ile142Met) rs781610241 0.00006
NM_000303.3(PMM2):c.436G>A (p.Glu146Lys) rs142420230 0.00006
NM_000303.3(PMM2):c.487A>C (p.Lys163Gln) rs138383066 0.00006
NM_000303.3(PMM2):c.640-12G>A rs375325546 0.00006
NM_001004127.3(ALG11):c.1037G>A (p.Arg346His) rs144883776 0.00006
NM_001004127.3(ALG11):c.44G>C (p.Arg15Thr) rs139798579 0.00006
NM_001099922.3(ALG13):c.2403G>C (p.Glu801Asp) rs778396216 0.00006
NM_001382.4(DPAGT1):c.351A>G (p.Val117=) rs146610900 0.00006
NM_001382.4(DPAGT1):c.671C>T (p.Ser224Phe) rs751590922 0.00006
NM_002435.3(MPI):c.*289A>G rs1405523963 0.00006
NM_002435.3(MPI):c.1269G>A (p.Leu423=) rs371664469 0.00006
NM_002435.3(MPI):c.61A>G (p.Met21Val) rs376746368 0.00006
NM_002633.3(PGM1):c.*72A>G rs761043925 0.00006
NM_002633.3(PGM1):c.442T>G (p.Phe148Val) rs755467080 0.00006
NM_002633.3(PGM1):c.975G>T (p.Gln325His) rs574355735 0.00006
NM_003859.3(DPM1):c.286T>C (p.Leu96=) rs780244460 0.00006
NM_003859.3(DPM1):c.61A>G (p.Ser21Gly) rs148674319 0.00006
NM_005216.5(DDOST):c.236A>G (p.Asn79Ser) rs773982629 0.00006
NM_005216.5(DDOST):c.573C>A (p.Asn191Lys) rs1038330038 0.00006
NM_005216.5(DDOST):c.815A>G (p.Tyr272Cys) rs369105590 0.00006
NM_005787.6(ALG3):c.13C>G (p.Leu5Val) rs369888932 0.00006
NM_005787.6(ALG3):c.297-6T>C rs371534425 0.00006
NM_005787.6(ALG3):c.578G>A (p.Arg193His) rs550144109 0.00006
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) rs768141782 0.00006
NM_012463.4(ATP6V0A2):c.1112G>A (p.Arg371His) rs199698721 0.00006
NM_012463.4(ATP6V0A2):c.2327G>A (p.Arg776His) rs758922111 0.00006
NM_012463.4(ATP6V0A2):c.2333G>T (p.Gly778Val) rs762614200 0.00006
NM_013339.4(ALG6):c.-141A>G rs1054104046 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_013339.4(ALG6):c.36A>C (p.Leu12Phe) rs151277583 0.00006
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr) rs376087919 0.00006
NM_014908.4(DOLK):c.-255C>T rs886063517 0.00006
NM_014908.4(DOLK):c.-269G>T rs371065378 0.00006
NM_014908.4(DOLK):c.1139G>A (p.Arg380His) rs553112177 0.00006
NM_014908.4(DOLK):c.165C>A (p.Tyr55Ter) rs1366267146 0.00006
NM_014908.4(DOLK):c.210C>G (p.Val70=) rs750368652 0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975 0.00006
NM_014908.4(DOLK):c.344C>T (p.Ala115Val) rs146804211 0.00006
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys) rs766759178 0.00006
NM_019109.5(ALG1):c.20T>G (p.Val7Gly) rs780711908 0.00006
NM_019109.5(ALG1):c.335T>C (p.Met112Thr) rs150943251 0.00006
NM_019109.5(ALG1):c.485C>T (p.Ser162Phe) rs755804171 0.00006
NM_019109.5(ALG1):c.728C>T (p.Pro243Leu) rs570334955 0.00006
NM_019109.5(ALG1):c.770G>A (p.Arg257Gln) rs763925138 0.00006
NM_021645.6(UTP14C):c.172C>T (p.Arg58Trp) rs184583544 0.00006
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_024079.5(ALG8):c.984C>A (p.Val328=) rs757467776 0.00006
NM_024105.4(ALG12):c.1244A>G (p.Asp415Gly) rs201717237 0.00006
NM_024105.4(ALG12):c.1346G>A (p.Arg449Gln) rs148062469 0.00006
NM_024105.4(ALG12):c.1457G>A (p.Arg486Gln) rs938305311 0.00006
NM_024105.4(ALG12):c.241G>A (p.Ala81Thr) rs770434145 0.00006
NM_024105.4(ALG12):c.403G>A (p.Ala135Thr) rs761571791 0.00006
NM_024105.4(ALG12):c.469+14G>A rs76905919 0.00006
NM_024105.4(ALG12):c.58G>A (p.Val20Ile) rs140468943 0.00006
NM_024105.4(ALG12):c.639C>T (p.Ala213=) rs140835842 0.00006
NM_024592.5(SRD5A3):c.*707G>T rs886059474 0.00006
NM_024740.2(ALG9):c.*305C>T rs782183793 0.00006
NM_024740.2(ALG9):c.*523T>C rs536072357 0.00006
NM_033087.4(ALG2):c.185A>G (p.Glu62Gly) rs752153404 0.00006
NM_033087.4(ALG2):c.346C>G (p.Gln116Glu) rs754476664 0.00006
NM_033087.4(ALG2):c.443A>G (p.Asp148Gly) rs369670496 0.00006
NM_033087.4(ALG2):c.92G>C (p.Arg31Pro) rs1279623882 0.00006
NM_033087.4(ALG2):c.934C>T (p.Leu312Phe) rs147346291 0.00006
NM_052859.4(RFT1):c.*2052A>G rs762188099 0.00006
NM_052859.4(RFT1):c.1117C>T (p.Arg373Cys) rs375524916 0.00006
NM_052859.4(RFT1):c.1270C>T (p.Arg424Cys) rs138803905 0.00006
NM_052859.4(RFT1):c.1447G>T (p.Ala483Ser) rs549199208 0.00006
NM_138459.5(NUS1):c.246C>G (p.His82Gln) rs1023259853 0.00006
NM_153741.2(DPM3):c.248C>T (p.Ala83Val) rs777586354 0.00006
NM_000303.3(PMM2):c.*205C>T rs556232441 0.00005
NM_000303.3(PMM2):c.*26C>T rs138528126 0.00005
NM_000303.3(PMM2):c.524-5G>A rs373584132 0.00005
NM_000303.3(PMM2):c.586G>A (p.Val196Met) rs547216044 0.00005
NM_000303.3(PMM2):c.738C>G (p.Ser246=) rs373888957 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_001099922.3(ALG13):c.2392T>C (p.Tyr798His) rs1195010293 0.00005
NM_001099922.3(ALG13):c.2396G>A (p.Arg799His) rs1441099792 0.00005
NM_001099922.3(ALG13):c.2529+6C>G rs1569520797 0.00005
NM_001099922.3(ALG13):c.2800C>T (p.Pro934Ser) rs766833930 0.00005
NM_001099922.3(ALG13):c.2842G>A (p.Asp948Asn) rs750257151 0.00005
NM_001099922.3(ALG13):c.952C>G (p.Arg318Gly) rs775191661 0.00005
NM_002435.3(MPI):c.132G>A (p.Lys44=) rs778577329 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_003863.4(DPM2):c.74C>G (p.Thr25Ser) rs1026866240 0.00005
NM_004341.5(CAD):c.4208G>A (p.Arg1403Gln) rs368332006 0.00005
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) rs142551371 0.00005
NM_005787.6(ALG3):c.778C>T (p.Arg260Cys) rs749229743 0.00005
NM_013339.4(ALG6):c.*1313T>C rs372013109 0.00005
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln) rs199535796 0.00005
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) rs201984428 0.00005
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile) rs754150966 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301 0.00005
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu) rs147342916 0.00005
NM_019109.5(ALG1):c.739C>T (p.Arg247Cys) rs749270254 0.00005
NM_019109.5(ALG1):c.764C>T (p.Thr255Met) rs143906919 0.00005
NM_024079.5(ALG8):c.228T>C (p.Tyr76=) rs371862915 0.00005
NM_024105.4(ALG12):c.-76T>C rs546115000 0.00005
NM_024105.4(ALG12):c.1331A>G (p.Tyr444Cys) rs374858734 0.00005
NM_024105.4(ALG12):c.358C>T (p.Arg120Trp) rs772004305 0.00005
NM_024105.4(ALG12):c.436C>T (p.Arg146Trp) rs567368110 0.00005
NM_024105.4(ALG12):c.469+4C>T rs555319649 0.00005
NM_024105.4(ALG12):c.617T>A (p.Val206Glu) rs150664343 0.00005
NM_033087.4(ALG2):c.368T>C (p.Val123Ala) rs762560638 0.00005
NM_052859.4(RFT1):c.*2280T>A rs190988002 0.00005
NM_052859.4(RFT1):c.1590G>C (p.Gln530His) rs1701001105 0.00005
NM_052859.4(RFT1):c.280G>A (p.Val94Met) rs151030461 0.00005
NM_138459.5(NUS1):c.166C>T (p.Leu56Phe) rs896791770 0.00005
NM_000303.3(PMM2):c.*365G>T rs886052460 0.00004
NM_000303.3(PMM2):c.*588G>A rs886052464 0.00004
NM_000303.3(PMM2):c.-34C>T rs751782324 0.00004
NM_000303.3(PMM2):c.447+4C>T rs537238935 0.00004
NM_000303.3(PMM2):c.581G>A (p.Arg194Gln) rs371629121 0.00004
NM_000303.3(PMM2):c.639+10G>A rs200593954 0.00004
NM_001004127.3(ALG11):c.1029A>G (p.Gly343=) rs147711581 0.00004
NM_001004127.3(ALG11):c.1269G>A (p.Lys423=) rs369694921 0.00004
NM_001004127.3(ALG11):c.21C>G (p.Ser7Arg) rs746897177 0.00004
NM_001004127.3(ALG11):c.325G>A (p.Gly109Ser) rs765666509 0.00004
NM_001099922.3(ALG13):c.3085G>A (p.Val1029Ile) rs368393741 0.00004
NM_001099922.3(ALG13):c.3130G>A (p.Ala1044Thr) rs1064796719 0.00004
NM_001099922.3(ALG13):c.350A>T (p.His117Leu) rs754497897 0.00004
NM_001382.4(DPAGT1):c.728+6T>C rs373170483 0.00004
NM_002435.3(MPI):c.*93C>T rs1336372205 0.00004
NM_002435.3(MPI):c.1053+15A>G rs564765063 0.00004
NM_002435.3(MPI):c.1053+3G>T rs753145834 0.00004
NM_002435.3(MPI):c.1175G>A (p.Arg392His) rs762164813 0.00004
NM_002435.3(MPI):c.1232C>T (p.Pro411Leu) rs147817691 0.00004
NM_002633.3(PGM1):c.1048A>G (p.Ile350Val) rs751121095 0.00004
NM_002633.3(PGM1):c.1160G>A (p.Arg387His) rs548040301 0.00004
NM_002633.3(PGM1):c.1336G>A (p.Glu446Lys) rs199918985 0.00004
NM_002633.3(PGM1):c.1355G>A (p.Arg452His) rs147763516 0.00004
NM_002633.3(PGM1):c.178G>C (p.Gly60Arg) rs1287963513 0.00004
NM_002633.3(PGM1):c.650G>A (p.Arg217Gln) rs188291855 0.00004
NM_002633.3(PGM1):c.708C>G (p.Ile236Met) rs200237046 0.00004
NM_003859.3(DPM1):c.11T>G (p.Leu4Trp) rs146935617 0.00004
NM_003859.3(DPM1):c.413G>A (p.Gly138Asp) rs373944766 0.00004
NM_003859.3(DPM1):c.46G>C (p.Glu16Gln) rs754001081 0.00004
NM_003859.3(DPM1):c.570C>T (p.Tyr190=) rs754109868 0.00004
NM_003859.3(DPM1):c.59G>T (p.Arg20Leu) rs376257244 0.00004
NM_004870.4(MPDU1):c.149T>C (p.Ile50Thr) rs200909635 0.00004
NM_004870.4(MPDU1):c.713A>G (p.Lys238Arg) rs775877177 0.00004
NM_005216.5(DDOST):c.627G>A (p.Pro209=) rs772970010 0.00004
NM_005216.5(DDOST):c.710G>A (p.Arg237His) rs774094300 0.00004
NM_005216.5(DDOST):c.955G>A (p.Val319Met) rs921210147 0.00004
NM_012463.4(ATP6V0A2):c.1565C>T (p.Pro522Leu) rs371908109 0.00004
NM_012463.4(ATP6V0A2):c.2033G>A (p.Arg678His) rs761913726 0.00004
NM_012463.4(ATP6V0A2):c.2165C>T (p.Ala722Val) rs766224435 0.00004
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) rs941238473 0.00004
NM_012463.4(ATP6V0A2):c.26C>T (p.Thr9Ile) rs752689489 0.00004
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490 0.00004
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly) rs201247720 0.00004
NM_013339.4(ALG6):c.-120C>T rs1016079273 0.00004
NM_013339.4(ALG6):c.-128C>T rs188685870 0.00004
NM_013339.4(ALG6):c.1120A>G (p.Thr374Ala) rs368086400 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.1A>G (p.Met1Val) rs562934427 0.00004
NM_013339.4(ALG6):c.618C>T (p.His206=) rs374336458 0.00004
NM_013339.4(ALG6):c.916T>G (p.Phe306Val) rs769417698 0.00004
NM_014908.4(DOLK):c.-94G>T rs567989779 0.00004
NM_014908.4(DOLK):c.1069C>T (p.Pro357Ser) rs1267588037 0.00004
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp) rs758129067 0.00004
NM_014908.4(DOLK):c.1270A>G (p.Arg424Gly) rs778808864 0.00004
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro) rs189623590 0.00004
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr) rs774524497 0.00004
NM_014908.4(DOLK):c.839G>A (p.Arg280His) rs779503646 0.00004
NM_019109.5(ALG1):c.1048G>A (p.Ala350Thr) rs138275657 0.00004
NM_019109.5(ALG1):c.121G>A (p.Gly41Ser) rs1393282696 0.00004
NM_019109.5(ALG1):c.1234G>A (p.Asp412Asn) rs200353530 0.00004
NM_019109.5(ALG1):c.1331C>T (p.Ser444Leu) rs397839861 0.00004
NM_019109.5(ALG1):c.539+3G>C rs1040920105 0.00004
NM_019109.5(ALG1):c.545A>C (p.Glu182Ala) rs1011307139 0.00004
NM_019109.5(ALG1):c.715A>C (p.Ser239Arg) rs1373315673 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_019109.5(ALG1):c.919C>G (p.Leu307Val) rs368735974 0.00004
NM_021645.6(UTP14C):c.277G>A (p.Val93Ile) rs545278962 0.00004
NM_021645.6(UTP14C):c.540A>C (p.Arg180Ser) rs201103979 0.00004
NM_024079.5(ALG8):c.1091G>A (p.Arg364Gln) rs766238263 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_024105.4(ALG12):c.*209C>T rs757403591 0.00004
NM_024105.4(ALG12):c.-74C>T rs182520339 0.00004
NM_024105.4(ALG12):c.1028C>T (p.Ala343Val) rs374812633 0.00004
NM_024105.4(ALG12):c.1211G>A (p.Arg404Gln) rs553349150 0.00004
NM_024105.4(ALG12):c.479C>T (p.Ala160Val) rs762826904 0.00004
NM_024105.4(ALG12):c.809G>A (p.Arg270His) rs781707642 0.00004
NM_024105.4(ALG12):c.811G>A (p.Gly271Ser) rs751915470 0.00004
NM_024105.4(ALG12):c.910C>T (p.Leu304Phe) rs375631589 0.00004
NM_024592.5(SRD5A3):c.*2120T>G rs959439608 0.00004
NM_024592.5(SRD5A3):c.*2950T>C rs1363381757 0.00004
NM_024592.5(SRD5A3):c.436G>A (p.Glu146Lys) rs772795484 0.00004
NM_024592.5(SRD5A3):c.464A>G (p.Asn155Ser) rs770085775 0.00004
NM_024740.2(ALG9):c.*4141G>C rs541035545 0.00004
NM_024740.2(ALG9):c.*763T>C rs886047680 0.00004
NM_024740.2(ALG9):c.128C>T (p.Thr43Ile) rs1377024435 0.00004
NM_033087.4(ALG2):c.1156A>G (p.Met386Val) rs772649099 0.00004
NM_033087.4(ALG2):c.1228T>C (p.Tyr410His) rs376959842 0.00004
NM_033087.4(ALG2):c.19C>T (p.Arg7Trp) rs761793563 0.00004
NM_033087.4(ALG2):c.299A>G (p.Tyr100Cys) rs1372670324 0.00004
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys) rs1156439417 0.00004
NM_033087.4(ALG2):c.388C>T (p.Arg130Trp) rs780287266 0.00004
NM_033087.4(ALG2):c.502G>A (p.Gly168Ser) rs925393788 0.00004
NM_052859.4(RFT1):c.*2995C>T rs886058713 0.00004
NM_052859.4(RFT1):c.1018G>A (p.Gly340Ser) rs568474177 0.00004
NM_052859.4(RFT1):c.1208+15A>G rs1448297165 0.00004
NM_052859.4(RFT1):c.1214A>G (p.Asn405Ser) rs111924005 0.00004
NM_052859.4(RFT1):c.1344C>T (p.Cys448=) rs369135875 0.00004
NM_052859.4(RFT1):c.1598T>C (p.Val533Ala) rs747610673 0.00004
NM_052859.4(RFT1):c.412C>A (p.Pro138Thr) rs1045604063 0.00004
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087 0.00004
NM_153741.2(DPM3):c.127G>A (p.Ala43Thr) rs778766264 0.00004
NM_000303.3(PMM2):c.*1297C>T rs183853029 0.00003
NM_000303.3(PMM2):c.*383C>T rs886052461 0.00003
NM_000303.3(PMM2):c.*674G>A rs886052465 0.00003
NM_000303.3(PMM2):c.*695C>T rs767981809 0.00003
NM_000303.3(PMM2):c.*81C>T rs886052458 0.00003
NM_000303.3(PMM2):c.*888A>G rs886052467 0.00003
NM_000303.3(PMM2):c.*959C>G rs886052469 0.00003
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_001004127.3(ALG11):c.124A>G (p.Ile42Val) rs201067230 0.00003
NM_001099922.3(ALG13):c.1958G>A (p.Arg653Gln) rs779911093 0.00003
NM_001099922.3(ALG13):c.2686G>A (p.Gly896Ser) rs972892187 0.00003
NM_001382.4(DPAGT1):c.283-9C>T rs746355462 0.00003
NM_002435.3(MPI):c.*44T>G rs774547352 0.00003
NM_002435.3(MPI):c.121G>A (p.Ala41Thr) rs779821212 0.00003
NM_002633.3(PGM1):c.1144+10A>G rs886046482 0.00003
NM_002633.3(PGM1):c.1195C>G (p.Leu399Val) rs200065327 0.00003
NM_002633.3(PGM1):c.138C>A (p.Thr46=) rs767357022 0.00003
NM_002633.3(PGM1):c.318C>G (p.Ile106Met) rs781551165 0.00003
NM_003859.3(DPM1):c.*191A>G rs771510447 0.00003
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 0.00003
NM_003859.3(DPM1):c.275G>A (p.Arg92Gln) rs1324570980 0.00003
NM_003863.4(DPM2):c.146A>G (p.Tyr49Cys) rs779093563 0.00003
NM_004870.4(MPDU1):c.*255A>G rs878936939 0.00003
NM_005216.5(DDOST):c.1136G>A (p.Arg379Gln) rs74526704 0.00003
NM_005787.5(ALG3):c.-31G>A rs758955754 0.00003
NM_005787.6(ALG3):c.*65C>T rs776636517 0.00003
NM_005787.6(ALG3):c.1280T>A (p.Phe427Tyr) rs770095687 0.00003
NM_005787.6(ALG3):c.296+7G>A rs375026036 0.00003
NM_005787.6(ALG3):c.51A>G (p.Ala17=) rs763727038 0.00003
NM_012463.4(ATP6V0A2):c.1018C>T (p.Arg340Trp) rs781305219 0.00003
NM_012463.4(ATP6V0A2):c.1038G>A (p.Ser346=) rs147411055 0.00003
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067 0.00003
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn) rs774594773 0.00003
NM_012463.4(ATP6V0A2):c.263C>T (p.Ala88Val) rs199633614 0.00003
NM_012463.4(ATP6V0A2):c.440C>T (p.Pro147Leu) rs747354658 0.00003
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402 0.00003
NM_012463.4(ATP6V0A2):c.793G>A (p.Gly265Arg) rs774118423 0.00003
NM_012463.4(ATP6V0A2):c.868A>G (p.Lys290Glu) rs772170459 0.00003
NM_013339.4(ALG6):c.*1137G>A rs886046478 0.00003
NM_013339.4(ALG6):c.430-3C>T rs549094888 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.881G>A (p.Arg294His) rs772248256 0.00003
NM_013339.4(ALG6):c.942A>G (p.Ile314Met) rs774489558 0.00003
NM_014908.4(DOLK):c.*20G>A rs368635795 0.00003
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser) rs762835635 0.00003
NM_014908.4(DOLK):c.1130G>A (p.Arg377His) rs374317240 0.00003
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro) rs145125254 0.00003
NM_014908.4(DOLK):c.1290T>G (p.Gly430=) rs755691113 0.00003
NM_014908.4(DOLK):c.1333C>A (p.Leu445Met) rs866088033 0.00003
NM_014908.4(DOLK):c.288G>C (p.Lys96Asn) rs771259120 0.00003
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala) rs933514904 0.00003
NM_015354.3(NUP188):c.-6G>A rs201511915 0.00003
NM_019109.5(ALG1):c.29C>T (p.Ala10Val) rs767455250 0.00003
NM_019109.5(ALG1):c.560G>A (p.Arg187His) rs377600706 0.00003
NM_019109.5(ALG1):c.608T>C (p.Leu203Pro) rs777949225 0.00003
NM_019109.5(ALG1):c.863A>G (p.Glu288Gly) rs776908571 0.00003
NM_019109.5(ALG1):c.880A>C (p.Ile294Leu) rs767003110 0.00003
NM_019109.5(ALG1):c.933C>A (p.Asn311Lys) rs776299417 0.00003
NM_021645.6(UTP14C):c.192T>C (p.Ser64=) rs137988059 0.00003
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024105.4(ALG12):c.1427C>G (p.Thr476Arg) rs142815771 0.00003
NM_024105.4(ALG12):c.1456C>T (p.Arg486Trp) rs745477655 0.00003
NM_024105.4(ALG12):c.183C>T (p.Pro61=) rs749156618 0.00003
NM_024105.4(ALG12):c.29G>A (p.Arg10Gln) rs778413165 0.00003
NM_024105.4(ALG12):c.401C>T (p.Thr134Met) rs201405631 0.00003
NM_024105.4(ALG12):c.496C>T (p.Arg166Trp) rs375139092 0.00003
NM_024105.4(ALG12):c.502G>A (p.Glu168Lys) rs754565538 0.00003
NM_024105.4(ALG12):c.605G>A (p.Arg202Gln) rs746493927 0.00003
NM_024105.4(ALG12):c.842T>G (p.Leu281Arg) rs767435558 0.00003
NM_024105.4(ALG12):c.869C>T (p.Ala290Val) rs201508940 0.00003
NM_024105.4(ALG12):c.889G>A (p.Gly297Ser) rs199937362 0.00003
NM_024105.4(ALG12):c.931C>T (p.Arg311Cys) rs746215829 0.00003
NM_024592.5(SRD5A3):c.*2560A>G rs886059483 0.00003
NM_024592.5(SRD5A3):c.*2804C>T rs886059484 0.00003
NM_024592.5(SRD5A3):c.*594C>T rs1445697837 0.00003
NM_024592.5(SRD5A3):c.140A>G (p.Gln47Arg) rs764835755 0.00003
NM_024592.5(SRD5A3):c.262G>A (p.Gly88Ser) rs374807694 0.00003
NM_024592.5(SRD5A3):c.802G>A (p.Val268Ile) rs549620113 0.00003
NM_024740.2(ALG9):c.*1687A>T rs367569393 0.00003
NM_024740.2(ALG9):c.*2339T>G rs886047673 0.00003
NM_024740.2(ALG9):c.*306G>A rs886047683 0.00003
NM_024740.2(ALG9):c.*773A>G rs886047679 0.00003
NM_024740.2(ALG9):c.1660C>T (p.Arg554Trp) rs782084496 0.00003
NM_033087.4(ALG2):c.10G>A (p.Glu4Lys) rs1329170357 0.00003
NM_033087.4(ALG2):c.1A>G (p.Met1Val) rs750172644 0.00003
NM_033087.4(ALG2):c.233G>A (p.Gly78Asp) rs934545988 0.00003
NM_033087.4(ALG2):c.239G>A (p.Gly80Asp) rs752081241 0.00003
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 0.00003
NM_052859.4(RFT1):c.*2214C>T rs886058719 0.00003
NM_052859.4(RFT1):c.*2215G>A rs886058718 0.00003
NM_052859.4(RFT1):c.*2996G>A rs1223140817 0.00003
NM_052859.4(RFT1):c.*84A>T rs553703050 0.00003
NM_052859.4(RFT1):c.-1T>C rs886058729 0.00003
NM_052859.4(RFT1):c.1075G>A (p.Gly359Arg) rs201876415 0.00003
NM_052859.4(RFT1):c.121A>G (p.Lys41Glu) rs886058728 0.00003
NM_052859.4(RFT1):c.1285G>A (p.Val429Met) rs145175244 0.00003
NM_052859.4(RFT1):c.1324C>T (p.Arg442Trp) rs146610276 0.00003
NM_052859.4(RFT1):c.200G>A (p.Arg67His) rs753527390 0.00003
NM_052859.4(RFT1):c.23G>A (p.Gly8Asp) rs151322409 0.00003
NM_052859.4(RFT1):c.590A>G (p.Tyr197Cys) rs781527440 0.00003
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys) rs766766673 0.00003
NM_052859.4(RFT1):c.781C>G (p.Arg261Gly) rs766042717 0.00003
NM_138459.5(NUS1):c.445A>G (p.Met149Val) rs1276753307 0.00003
NM_000303.3(PMM2):c.*1103C>T rs886052470 0.00002
NM_000303.3(PMM2):c.*1138T>G rs999681403 0.00002
NM_000303.3(PMM2):c.*972C>T rs746081212 0.00002
NM_000303.3(PMM2):c.154G>C (p.Val52Leu) rs148608841 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000303.3(PMM2):c.680T>C (p.Met227Thr) rs772410793 0.00002
NM_000303.3(PMM2):c.69A>G (p.Lys23=) rs1189907173 0.00002
NM_001004127.3(ALG11):c.522T>G (p.Asp174Glu) rs748117240 0.00002
NM_001099922.3(ALG13):c.1005+4A>G rs758242204 0.00002
NM_001099922.3(ALG13):c.1210G>A (p.Glu404Lys) rs1272022379 0.00002
NM_001099922.3(ALG13):c.1397G>A (p.Arg466His) rs371858098 0.00002
NM_001099922.3(ALG13):c.1476G>C (p.Gln492His) rs760560180 0.00002
NM_001099922.3(ALG13):c.148C>T (p.Pro50Ser) rs1461394942 0.00002
NM_001099922.3(ALG13):c.1664A>G (p.Asn555Ser) rs1198802633 0.00002
NM_001099922.3(ALG13):c.1670T>C (p.Met557Thr) rs1255485671 0.00002
NM_001099922.3(ALG13):c.1804A>G (p.Met602Val) rs370151362 0.00002
NM_001099922.3(ALG13):c.1853G>C (p.Ser618Thr) rs1194966893 0.00002
NM_001099922.3(ALG13):c.2078C>T (p.Ser693Phe) rs919912146 0.00002
NM_001099922.3(ALG13):c.207A>C (p.Glu69Asp) rs745826764 0.00002
NM_001099922.3(ALG13):c.2089C>T (p.Arg697Cys) rs1376010208 0.00002
NM_001099922.3(ALG13):c.2194A>G (p.Ile732Val) rs1278669534 0.00002
NM_001099922.3(ALG13):c.2328G>C (p.Gln776His) rs750005344 0.00002
NM_001099922.3(ALG13):c.2529+3A>G rs1943111596 0.00002
NM_001099922.3(ALG13):c.2726C>A (p.Ser909Tyr) rs377097716 0.00002
NM_001099922.3(ALG13):c.2839C>T (p.Leu947Phe) rs758632567 0.00002
NM_001099922.3(ALG13):c.3017A>G (p.Gln1006Arg) rs753692221 0.00002
NM_001099922.3(ALG13):c.3271G>C (p.Asp1091His) rs1264248744 0.00002
NM_001099922.3(ALG13):c.532A>G (p.Thr178Ala) rs754377859 0.00002
NM_001099922.3(ALG13):c.680G>A (p.Gly227Asp) rs760283484 0.00002
NM_001099922.3(ALG13):c.834+3A>G rs370066652 0.00002
NM_001382.4(DPAGT1):c.-39C>T rs749047996 0.00002
NM_001382.4(DPAGT1):c.1193G>A (p.Arg398Gln) rs747825322 0.00002
NM_001382.4(DPAGT1):c.14C>T (p.Ser5Leu) rs764519878 0.00002
NM_001382.4(DPAGT1):c.257A>T (p.Gln86Leu) rs751806317 0.00002
NM_001382.4(DPAGT1):c.488T>C (p.Leu163Pro) rs772211450 0.00002
NM_001382.4(DPAGT1):c.509A>G (p.Tyr170Cys) rs28934876 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001382.4(DPAGT1):c.917+6C>T rs539220035 0.00002
NM_001382.4(DPAGT1):c.989G>A (p.Gly330Asp) rs780497256 0.00002
NM_002435.3(MPI):c.*109T>C rs905180827 0.00002
NM_002435.3(MPI):c.1064C>T (p.Ser355Phe) rs763169640 0.00002
NM_002435.3(MPI):c.739G>A (p.Gly247Ser) rs557366025 0.00002
NM_002633.3(PGM1):c.1311C>T (p.Gly437=) rs774957793 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_002633.3(PGM1):c.254G>A (p.Arg85His) rs200225686 0.00002
NM_002633.3(PGM1):c.602G>A (p.Ser201Asn) rs139241922 0.00002
NM_003859.3(DPM1):c.109C>A (p.Arg37Ser) rs369939483 0.00002
NM_003859.3(DPM1):c.622G>A (p.Val208Ile) rs938379512 0.00002
NM_003863.4(DPM2):c.3+6A>G rs776375979 0.00002
NM_004341.5(CAD):c.5488A>G (p.Met1830Val) rs747817554 0.00002
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) rs199498675 0.00002
NM_004870.4(MPDU1):c.619-2A>G rs368123972 0.00002
NM_005216.5(DDOST):c.109C>T (p.Leu37Phe) rs150936849 0.00002
NM_005216.5(DDOST):c.619T>G (p.Phe207Val) rs145758022 0.00002
NM_005787.6(ALG3):c.606-10C>T rs372141050 0.00002
NM_012463.4(ATP6V0A2):c.1129G>A (p.Glu377Lys) rs370299179 0.00002
NM_012463.4(ATP6V0A2):c.2028T>G (p.Asn676Lys) rs763022700 0.00002
NM_012463.4(ATP6V0A2):c.2072T>C (p.Ile691Thr) rs144946016 0.00002
NM_012463.4(ATP6V0A2):c.2294A>G (p.Gln765Arg) rs754014350 0.00002
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857 0.00002
NM_012463.4(ATP6V0A2):c.435T>G (p.Phe145Leu) rs772179448 0.00002
NM_012463.4(ATP6V0A2):c.877G>A (p.Glu293Lys) rs368924297 0.00002
NM_013339.4(ALG6):c.1315A>G (p.Ile439Val) rs1259683238 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.347-13C>G rs981893296 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_013339.4(ALG6):c.681-5T>C rs778405436 0.00002
NM_013339.4(ALG6):c.727G>A (p.Val243Ile) rs367674567 0.00002
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr) rs756608021 0.00002
NM_013339.4(ALG6):c.95C>T (p.Pro32Leu) rs770413804 0.00002
NM_014908.4(DOLK):c.-22G>A rs754288997 0.00002
NM_014908.4(DOLK):c.1006G>A (p.Ala336Thr) rs769241947 0.00002
NM_014908.4(DOLK):c.1087G>A (p.Ala363Thr) rs1588262062 0.00002
NM_014908.4(DOLK):c.1201_1202del (p.Ser401fs) rs919111760 0.00002
NM_014908.4(DOLK):c.1315G>A (p.Val439Ile) rs372057636 0.00002
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys) rs41305507 0.00002
NM_014908.4(DOLK):c.385G>T (p.Ala129Ser) rs761013512 0.00002
NM_014908.4(DOLK):c.429C>G (p.Ile143Met) rs1261719011 0.00002
NM_014908.4(DOLK):c.572C>A (p.Pro191His) rs767965852 0.00002
NM_014908.4(DOLK):c.589G>A (p.Val197Ile) rs373587710 0.00002
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln) rs373115419 0.00002
NM_019109.5(ALG1):c.1001A>G (p.His334Arg) rs756058300 0.00002
NM_019109.5(ALG1):c.1055A>T (p.Asp352Val) rs765238558 0.00002
NM_019109.5(ALG1):c.1324C>T (p.Arg442Trp) rs764363207 0.00002
NM_019109.5(ALG1):c.1387G>T (p.Asp463Tyr) rs765599429 0.00002
NM_019109.5(ALG1):c.1393T>C (p.Ter465Gln) rs3204229 0.00002
NM_019109.5(ALG1):c.208+14_208+17dup rs746780708 0.00002
NM_019109.5(ALG1):c.401G>C (p.Gly134Ala) rs763309062 0.00002
NM_019109.5(ALG1):c.430G>A (p.Val144Met) rs770392954 0.00002
NM_019109.5(ALG1):c.683A>G (p.Asp228Gly) rs759264819 0.00002
NM_019109.5(ALG1):c.820C>T (p.Arg274Cys) rs201867255 0.00002
NM_019109.5(ALG1):c.932A>G (p.Asn311Ser) rs549071467 0.00002
NM_019109.5(ALG1):c.934C>T (p.Leu312Phe) rs761452986 0.00002
NM_019109.5(ALG1):c.941C>T (p.Ser314Phe) rs569218235 0.00002
NM_024079.5(ALG8):c.-5C>T rs886048689 0.00002
NM_024079.5(ALG8):c.616G>A (p.Ala206Thr) rs769894472 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024105.4(ALG12):c.*276T>G rs760147302 0.00002
NM_024105.4(ALG12):c.1133G>A (p.Arg378Lys) rs148798409 0.00002
NM_024105.4(ALG12):c.1183G>A (p.Val395Met) rs759024738 0.00002
NM_024105.4(ALG12):c.1231G>A (p.Ala411Thr) rs755033821 0.00002
NM_024105.4(ALG12):c.1363G>A (p.Val455Met) rs367671008 0.00002
NM_024105.4(ALG12):c.163-4G>A rs776043296 0.00002
NM_024105.4(ALG12):c.166G>A (p.Asp56Asn) rs201033281 0.00002
NM_024105.4(ALG12):c.434C>T (p.Thr145Met) rs748460466 0.00002
NM_024105.4(ALG12):c.470-3C>T rs751546611 0.00002
NM_024105.4(ALG12):c.535G>A (p.Ala179Thr) rs952664215 0.00002
NM_024105.4(ALG12):c.57C>T (p.Ala19=) rs763942380 0.00002
NM_024105.4(ALG12):c.776C>T (p.Pro259Leu) rs149109851 0.00002
NM_024592.5(SRD5A3):c.*1567T>C rs886059475 0.00002
NM_024592.5(SRD5A3):c.124G>A (p.Gly42Ser) rs145649665 0.00002
NM_024592.5(SRD5A3):c.2T>C (p.Met1Thr) rs548088851 0.00002
NM_024592.5(SRD5A3):c.673G>A (p.Gly225Ser) rs748408459 0.00002
NM_024740.2(ALG9):c.*1311A>G rs912924184 0.00002
NM_024740.2(ALG9):c.188A>G (p.Lys63Arg) rs781991188 0.00002
NM_024740.2(ALG9):c.388A>G (p.Ile130Val) rs782298472 0.00002
NM_033087.4(ALG2):c.1174G>A (p.Ala392Thr) rs138258236 0.00002
NM_033087.4(ALG2):c.1218G>C (p.Gln406His) rs763754023 0.00002
NM_033087.4(ALG2):c.180C>G (p.Phe60Leu) rs777441526 0.00002
NM_033087.4(ALG2):c.20G>A (p.Arg7Gln) rs776974668 0.00002
NM_033087.4(ALG2):c.248G>A (p.Gly83Asp) rs376627887 0.00002
NM_033087.4(ALG2):c.361A>G (p.Ile121Val) rs774204697 0.00002
NM_033087.4(ALG2):c.752G>A (p.Arg251His) rs201729325 0.00002
NM_033087.4(ALG2):c.784G>T (p.Val262Phe) rs1229029511 0.00002
NM_052859.4(RFT1):c.*972A>G rs1442056912 0.00002
NM_052859.4(RFT1):c.1102+5G>A rs947230997 0.00002
NM_052859.4(RFT1):c.1187T>C (p.Met396Thr) rs759448727 0.00002
NM_052859.4(RFT1):c.1286T>C (p.Val429Ala) rs748400773 0.00002
NM_052859.4(RFT1):c.1354C>T (p.Arg452Cys) rs754157422 0.00002
NM_052859.4(RFT1):c.1607G>A (p.Arg536His) rs781398694 0.00002
NM_052859.4(RFT1):c.182T>C (p.Leu61Pro) rs758269687 0.00002
NM_052859.4(RFT1):c.22G>T (p.Gly8Cys) rs993455093 0.00002
NM_052859.4(RFT1):c.511G>A (p.Val171Met) rs561602179 0.00002
NM_052859.4(RFT1):c.801G>T (p.Leu267Phe) rs745687063 0.00002
NM_138459.5(NUS1):c.199C>A (p.Arg67Ser) rs1433668009 0.00002
NM_138459.5(NUS1):c.638A>G (p.Gln213Arg) rs771454891 0.00002
NM_138459.5(NUS1):c.674C>T (p.Thr225Met) rs760187558 0.00002
NM_138459.5(NUS1):c.75G>C (p.Trp25Cys) rs774553541 0.00002
NM_152713.5(STT3A):c.1310G>A (p.Arg437His) rs776079118 0.00002
NM_153741.2(DPM3):c.179G>T (p.Arg60Leu) rs773427971 0.00002
NM_000303.3(PMM2):c.*1260C>T rs886052471 0.00001
NM_000303.3(PMM2):c.*1345T>C rs144652247 0.00001
NM_000303.3(PMM2):c.*658C>T rs549756162 0.00001
NM_000303.3(PMM2):c.*891C>T rs886052468 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.126A>G (p.Gly42=) rs766984518 0.00001
NM_000303.3(PMM2):c.127G>C (p.Val43Leu) rs376754460 0.00001
NM_000303.3(PMM2):c.14G>A (p.Gly5Asp) rs773813007 0.00001
NM_000303.3(PMM2):c.178+12G>A rs2060618999 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.252A>T (p.Arg84Ser) rs375826588 0.00001
NM_000303.3(PMM2):c.255+5G>T rs370480677 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.284del (p.Leu95fs) rs757865122 0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) rs1215262242 0.00001
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939 0.00001
NM_000303.3(PMM2):c.334C>G (p.Leu112Val) rs757323701 0.00001
NM_000303.3(PMM2):c.401G>A (p.Arg134Lys) rs1159211374 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.523+3A>G rs774107741 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.531G>C (p.Gln177His) rs771162235 0.00001
NM_000303.3(PMM2):c.545T>A (p.Val182Asp) rs774532663 0.00001
NM_000303.3(PMM2):c.559T>C (p.Trp187Arg) rs781346472 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.593A>C (p.Asn198Thr) rs773420873 0.00001
NM_000303.3(PMM2):c.595G>C (p.Asp199His) rs1281138749 0.00001
NM_000303.3(PMM2):c.645C>T (p.Gly215=) rs765599626 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000303.3(PMM2):c.652C>A (p.His218Asn) rs398123310 0.00001
NM_001004127.3(ALG11):c.1034G>T (p.Cys345Phe) rs886050313 0.00001
NM_001004127.3(ALG11):c.1214T>C (p.Val405Ala) rs200978613 0.00001
NM_001004127.3(ALG11):c.497A>G (p.Gln166Arg) rs756365610 0.00001
NM_001004127.3(ALG11):c.946C>G (p.Pro316Ala) rs765431074 0.00001
NM_001099922.3(ALG13):c.1010T>A (p.Leu337Gln) rs1189252877 0.00001
NM_001099922.3(ALG13):c.10G>A (p.Val4Met) rs1245567722 0.00001
NM_001099922.3(ALG13):c.1305T>G (p.Asn435Lys) rs1160640023 0.00001
NM_001099922.3(ALG13):c.1603C>T (p.His535Tyr) rs1941811361 0.00001
NM_001099922.3(ALG13):c.1619C>T (p.Ala540Val) rs1234385710 0.00001
NM_001099922.3(ALG13):c.1630C>T (p.Pro544Ser) rs1941811792 0.00001
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala) rs1238751751 0.00001
NM_001099922.3(ALG13):c.1661G>T (p.Trp554Leu) rs1364102879 0.00001
NM_001099922.3(ALG13):c.1694A>G (p.Tyr565Cys) rs1159974001 0.00001
NM_001099922.3(ALG13):c.1730-3A>T rs1318967967 0.00001
NM_001099922.3(ALG13):c.1733T>C (p.Ile578Thr) rs780580927 0.00001
NM_001099922.3(ALG13):c.1772A>G (p.Lys591Arg) rs369838463 0.00001
NM_001099922.3(ALG13):c.1910T>C (p.Met637Thr) rs774331771 0.00001
NM_001099922.3(ALG13):c.1954G>T (p.Gly652Cys) rs1164687660 0.00001
NM_001099922.3(ALG13):c.2033_2038del (p.Tyr678_Gly680delinsCys) rs764031698 0.00001
NM_001099922.3(ALG13):c.2066A>G (p.Tyr689Cys) rs1470650822 0.00001
NM_001099922.3(ALG13):c.2110C>T (p.Arg704Cys) rs767153325 0.00001
NM_001099922.3(ALG13):c.2260C>T (p.Pro754Ser) rs775045681 0.00001
NM_001099922.3(ALG13):c.2312A>G (p.His771Arg) rs756114101 0.00001
NM_001099922.3(ALG13):c.2351A>G (p.Asn784Ser) rs1478132547 0.00001
NM_001099922.3(ALG13):c.2372G>A (p.Arg791Gln) rs374290658 0.00001
NM_001099922.3(ALG13):c.2495A>C (p.Gln832Pro) rs781652731 0.00001
NM_001099922.3(ALG13):c.2529+5T>C rs749420976 0.00001
NM_001099922.3(ALG13):c.2543T>C (p.Ile848Thr) rs201541531 0.00001
NM_001099922.3(ALG13):c.2564G>A (p.Cys855Tyr) rs1279923204 0.00001
NM_001099922.3(ALG13):c.2593T>C (p.Ser865Pro) rs199990990 0.00001
NM_001099922.3(ALG13):c.2758C>A (p.Pro920Thr) rs748792396 0.00001
NM_001099922.3(ALG13):c.2853G>T (p.Glu951Asp) rs755910935 0.00001
NM_001099922.3(ALG13):c.3145A>G (p.Asn1049Asp) rs759347694 0.00001
NM_001099922.3(ALG13):c.3190G>A (p.Ala1064Thr) rs756710193 0.00001
NM_001099922.3(ALG13):c.3197A>G (p.Tyr1066Cys) rs1219035683 0.00001
NM_001099922.3(ALG13):c.3239C>T (p.Pro1080Leu) rs375062698 0.00001
NM_001099922.3(ALG13):c.3241G>A (p.Gly1081Ser) rs760819207 0.00001
NM_001099922.3(ALG13):c.3278C>T (p.Ser1093Phe) rs1465704791 0.00001
NM_001099922.3(ALG13):c.3301G>C (p.Val1101Leu) rs1370248370 0.00001
NM_001099922.3(ALG13):c.3337G>A (p.Gly1113Ser) rs755772374 0.00001
NM_001099922.3(ALG13):c.3382C>T (p.Pro1128Ser) rs772141937 0.00001
NM_001099922.3(ALG13):c.358G>A (p.Gly120Ser) rs778521226 0.00001
NM_001099922.3(ALG13):c.388C>G (p.Leu130Val) rs1381653955 0.00001
NM_001099922.3(ALG13):c.389T>C (p.Leu130Pro) rs1220905347 0.00001
NM_001099922.3(ALG13):c.43G>A (p.Asp15Asn) rs776133794 0.00001
NM_001099922.3(ALG13):c.571G>A (p.Ala191Thr) rs778099828 0.00001
NM_001099922.3(ALG13):c.602T>C (p.Leu201Pro) rs1042682745 0.00001
NM_001099922.3(ALG13):c.652A>G (p.Asn218Asp) rs886042566 0.00001
NM_001367916.1(MAGT1):c.-3A>G rs781882781 0.00001
NM_001382.4(DPAGT1):c.*386G>A rs982028493 0.00001
NM_001382.4(DPAGT1):c.1018C>T (p.Leu340Phe) rs376996734 0.00001
NM_001382.4(DPAGT1):c.1024C>G (p.Leu342Val) rs555841797 0.00001
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg) rs1301940016 0.00001
NM_001382.4(DPAGT1):c.1192C>T (p.Arg398Ter) rs187919120 0.00001
NM_001382.4(DPAGT1):c.1204G>A (p.Val402Ile) rs779911586 0.00001
NM_001382.4(DPAGT1):c.1210C>T (p.Leu404Phe) rs1272156856 0.00001
NM_001382.4(DPAGT1):c.1221T>C (p.Asp407=) rs772133269 0.00001
NM_001382.4(DPAGT1):c.161+6C>T rs762402071 0.00001
NM_001382.4(DPAGT1):c.175G>A (p.Gly59Arg) rs1041735569 0.00001
NM_001382.4(DPAGT1):c.277C>G (p.His93Asp) rs1234809605 0.00001
NM_001382.4(DPAGT1):c.332T>G (p.Leu111Arg) rs759595271 0.00001
NM_001382.4(DPAGT1):c.359T>A (p.Leu120Gln) rs368415403 0.00001
NM_001382.4(DPAGT1):c.361C>T (p.Arg121Cys) rs746187785 0.00001
NM_001382.4(DPAGT1):c.412A>G (p.Met138Val) rs532412952 0.00001
NM_001382.4(DPAGT1):c.460C>T (p.Pro154Ser) rs1229553796 0.00001
NM_001382.4(DPAGT1):c.466C>T (p.Arg156Cys) rs762796464 0.00001
NM_001382.4(DPAGT1):c.470C>T (p.Pro157Leu) rs1328286236 0.00001
NM_001382.4(DPAGT1):c.485A>G (p.His162Arg) rs775716973 0.00001
NM_001382.4(DPAGT1):c.495G>A (p.Leu165=) rs373632825 0.00001
NM_001382.4(DPAGT1):c.652C>T (p.Arg218Trp) rs1053302601 0.00001
NM_001382.4(DPAGT1):c.729-10C>A rs1413156382 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001382.4(DPAGT1):c.868C>G (p.Leu290Val) rs376322200 0.00001
NM_001382.4(DPAGT1):c.901C>T (p.Arg301Cys) rs776632995 0.00001
NM_001382.4(DPAGT1):c.96C>T (p.Phe32=) rs779048359 0.00001
NM_002435.3(MPI):c.*441G>C rs1042476793 0.00001
NM_002435.3(MPI):c.*483G>C rs886051486 0.00001
NM_002435.3(MPI):c.1122G>C (p.Gln374His) rs753458883 0.00001
NM_002435.3(MPI):c.1156A>T (p.Thr386Ser) rs769768397 0.00001
NM_002435.3(MPI):c.1174C>T (p.Arg392Cys) rs751962765 0.00001
NM_002435.3(MPI):c.145-11T>C rs768029221 0.00001
NM_002435.3(MPI):c.1A>G (p.Met1Val) rs528828174 0.00001
NM_002435.3(MPI):c.472G>A (p.Val158Ile) rs886051482 0.00001
NM_002435.3(MPI):c.628G>A (p.Val210Met) rs781158335 0.00001
NM_002435.3(MPI):c.746T>C (p.Ile249Thr) rs201676072 0.00001
NM_002435.3(MPI):c.7G>A (p.Ala3Thr) rs770421382 0.00001
NM_002435.3(MPI):c.855G>A (p.Glu285=) rs769504650 0.00001
NM_002435.3(MPI):c.902A>G (p.Lys301Arg) rs534508637 0.00001
NM_002435.3(MPI):c.992A>C (p.Glu331Ala) rs1223295146 0.00001
NM_002633.3(PGM1):c.*348G>A rs58522038 0.00001
NM_002633.3(PGM1):c.*357A>G rs886046484 0.00001
NM_002633.3(PGM1):c.1102G>A (p.Ala368Thr) rs748252747 0.00001
NM_002633.3(PGM1):c.1367G>T (p.Gly456Val) rs777570538 0.00001
NM_002633.3(PGM1):c.1577C>G (p.Ala526Gly) rs757573887 0.00001
NM_002633.3(PGM1):c.160G>A (p.Glu54Lys) rs772628932 0.00001
NM_002633.3(PGM1):c.187G>T (p.Gly63Cys) rs759782258 0.00001
NM_002633.3(PGM1):c.265G>A (p.Gly89Arg) rs377500536 0.00001
NM_002633.3(PGM1):c.327T>C (p.Ile109=) rs770271653 0.00001
NM_002633.3(PGM1):c.356A>G (p.Asn119Ser) rs1213089649 0.00001
NM_002633.3(PGM1):c.425C>T (p.Ala142Val) rs1276461747 0.00001
NM_002633.3(PGM1):c.76G>A (p.Val26Met) rs1300863085 0.00001
NM_002633.3(PGM1):c.783C>T (p.His261=) rs886046481 0.00001
NM_002633.3(PGM1):c.873+6T>C rs368068987 0.00001
NM_002633.3(PGM1):c.878G>A (p.Arg293Gln) rs1466885233 0.00001
NM_002633.3(PGM1):c.985C>T (p.Arg329Cys) rs778199808 0.00001
NM_002633.3(PGM1):c.986G>A (p.Arg329His) rs747394265 0.00001
NM_003859.3(DPM1):c.168C>G (p.Ile56Met) rs562769511 0.00001
NM_003859.3(DPM1):c.202C>G (p.Pro68Ala) rs1986767219 0.00001
NM_003859.3(DPM1):c.212C>T (p.Thr71Ile) rs750927313 0.00001
NM_003859.3(DPM1):c.295+7C>T rs775797102 0.00001
NM_003859.3(DPM1):c.295+8G>A rs758553918 0.00001
NM_003859.3(DPM1):c.35G>T (p.Arg12Met) rs559291357 0.00001
NM_003859.3(DPM1):c.49C>G (p.Leu17Val) rs761143591 0.00001
NM_003859.3(DPM1):c.506A>G (p.Asn169Ser) rs727503905 0.00001
NM_003859.3(DPM1):c.52G>C (p.Glu18Gln) rs11553474 0.00001
NM_003859.3(DPM1):c.63T>A (p.Ser21Arg) rs747972169 0.00001
NM_003859.3(DPM1):c.647G>A (p.Arg216Gln) rs769390268 0.00001
NM_003859.3(DPM1):c.675C>T (p.Gly225=) rs1414447653 0.00001
NM_003859.3(DPM1):c.678+4T>G rs948892336 0.00001
NM_003859.3(DPM1):c.701G>A (p.Arg234His) rs760322056 0.00001
NM_003859.3(DPM1):c.754G>A (p.Gly252Arg) rs1205339617 0.00001
NM_003859.3(DPM1):c.757T>G (p.Leu253Val) rs773403940 0.00001
NM_003859.3(DPM1):c.763A>G (p.Thr255Ala) rs748394583 0.00001
NM_003863.3(DPM2):c.-208G>A rs1290789503 0.00001
NM_003863.3(DPM2):c.-88C>T rs886063484 0.00001
NM_003863.4(DPM2):c.*14A>T rs1352343761 0.00001
NM_003863.4(DPM2):c.*529G>A rs926580610 0.00001
NM_003863.4(DPM2):c.107G>A (p.Ser36Asn) rs771463310 0.00001
NM_003863.4(DPM2):c.124A>G (p.Lys42Glu) rs370170911 0.00001
NM_003863.4(DPM2):c.127T>C (p.Tyr43His) rs1275174624 0.00001
NM_003863.4(DPM2):c.145T>A (p.Tyr49Asn) rs755055369 0.00001
NM_003863.4(DPM2):c.184C>G (p.Leu62Val) rs766817693 0.00001
NM_003863.4(DPM2):c.197-9_197-8insA rs1314437874 0.00001
NM_003863.4(DPM2):c.208T>G (p.Ser70Ala) rs759597928 0.00001
NM_003863.4(DPM2):c.3+5G>A rs1333396682 0.00001
NM_004341.5(CAD):c.1352A>G (p.Tyr451Cys) rs770953907 0.00001
NM_004341.5(CAD):c.2492G>A (p.Arg831His) rs779903352 0.00001
NM_004341.5(CAD):c.4315-1G>A rs1291590169 0.00001
NM_004341.5(CAD):c.4315-3C>T rs867496821 0.00001
NM_004341.5(CAD):c.4564-9C>G rs575379595 0.00001
NM_004341.5(CAD):c.4655C>T (p.Ala1552Val) rs1041556030 0.00001
NM_004341.5(CAD):c.4760T>C (p.Ile1587Thr) rs370372528 0.00001
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr) rs768937191 0.00001
NM_004341.5(CAD):c.625C>G (p.Leu209Val) rs374182358 0.00001
NM_004341.5(CAD):c.6365G>A (p.Arg2122His) rs553324190 0.00001
NM_004341.5(CAD):c.859C>T (p.Arg287Cys) rs753478495 0.00001
NM_004870.4(MPDU1):c.*135C>G rs780090441 0.00001
NM_004870.4(MPDU1):c.*399G>C rs1289297756 0.00001
NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys) rs772047932 0.00001
NM_004870.4(MPDU1):c.184G>A (p.Val62Met) rs777819415 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004870.4(MPDU1):c.303-16A>G rs566030367 0.00001
NM_004870.4(MPDU1):c.437C>T (p.Ser146Leu) rs775584076 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004870.4(MPDU1):c.599G>A (p.Arg200Gln) rs200077070 0.00001
NM_004870.4(MPDU1):c.613A>G (p.Ile205Val) rs1473747780 0.00001
NM_004870.4(MPDU1):c.724A>C (p.Lys242Gln) rs1029176907 0.00001
NM_004870.4(MPDU1):c.735G>A (p.Lys245=) rs750023688 0.00001
NM_004870.4(MPDU1):c.84T>C (p.Val28=) rs1430454810 0.00001
NM_005216.5(DDOST):c.1096G>A (p.Asp366Asn) rs886045864 0.00001
NM_005216.5(DDOST):c.10A>G (p.Ser4Gly) rs1166127455 0.00001
NM_005216.5(DDOST):c.1196C>T (p.Thr399Met) rs530990753 0.00001
NM_005216.5(DDOST):c.119G>A (p.Arg40Gln) rs761548809 0.00001
NM_005216.5(DDOST):c.154G>A (p.Asp52Asn) rs778335267 0.00001
NM_005216.5(DDOST):c.188A>C (p.Asp63Ala) rs2053427789 0.00001
NM_005216.5(DDOST):c.502A>G (p.Thr168Ala) rs372948054 0.00001
NM_005216.5(DDOST):c.597G>A (p.Thr199=) rs755031163 0.00001
NM_005216.5(DDOST):c.709C>T (p.Arg237Cys) rs748804145 0.00001
NM_005787.6(ALG3):c.1015G>A (p.Val339Ile) rs1323127252 0.00001
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005787.6(ALG3):c.1108T>C (p.Tyr370His) rs377073728 0.00001
NM_005787.6(ALG3):c.19A>C (p.Lys7Gln) rs775068875 0.00001
NM_005787.6(ALG3):c.223A>G (p.Met75Val) rs961577496 0.00001
NM_005787.6(ALG3):c.332T>G (p.Leu111Trp) rs773227426 0.00001
NM_005787.6(ALG3):c.41C>T (p.Ala14Val) rs767695697 0.00001
NM_005787.6(ALG3):c.469A>G (p.Met157Val) rs1404929213 0.00001
NM_005787.6(ALG3):c.66G>A (p.Lys22=) rs778269575 0.00001
NM_005787.6(ALG3):c.696C>T (p.Leu232=) rs1174962210 0.00001
NM_005787.6(ALG3):c.863C>T (p.Ala288Val) rs772081381 0.00001
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu) rs756802179 0.00001
NM_005787.6(ALG3):c.977G>A (p.Arg326Lys) rs1718953951 0.00001
NM_006280.3(SSR4):c.194C>T (p.Ala65Val) rs781822476 0.00001
NM_006942.2(SOX15):c.*175G>A rs554187980 0.00001
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val) rs374873455 0.00001
NM_012463.4(ATP6V0A2):c.1099C>G (p.Pro367Ala) rs147833091 0.00001
NM_012463.4(ATP6V0A2):c.1120A>G (p.Lys374Glu) rs201857139 0.00001
NM_012463.4(ATP6V0A2):c.1126A>G (p.Thr376Ala) rs1381866878 0.00001
NM_012463.4(ATP6V0A2):c.1247G>A (p.Gly416Glu) rs770611939 0.00001
NM_012463.4(ATP6V0A2):c.1351C>T (p.Arg451Trp) rs907470146 0.00001
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val) rs1193899105 0.00001
NM_012463.4(ATP6V0A2):c.1468A>G (p.Ser490Gly) rs761024266 0.00001
NM_012463.4(ATP6V0A2):c.1822A>G (p.Lys608Glu) rs942181771 0.00001
NM_012463.4(ATP6V0A2):c.2005C>G (p.Leu669Val) rs374410950 0.00001
NM_012463.4(ATP6V0A2):c.2044G>A (p.Gly682Arg) rs766998428 0.00001
NM_012463.4(ATP6V0A2):c.2116G>A (p.Asp706Asn) rs777130500 0.00001
NM_012463.4(ATP6V0A2):c.2335C>G (p.Leu779Val) rs1289485537 0.00001
NM_012463.4(ATP6V0A2):c.2354A>G (p.Tyr785Cys) rs1300082047 0.00001
NM_012463.4(ATP6V0A2):c.291G>A (p.Met97Ile) rs1247351393 0.00001
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) rs879082266 0.00001
NM_012463.4(ATP6V0A2):c.764C>T (p.Thr255Ile) rs369952560 0.00001
NM_012463.4(ATP6V0A2):c.794G>A (p.Gly265Glu) rs571403150 0.00001
NM_012463.4(ATP6V0A2):c.818T>G (p.Leu273Arg) rs946611542 0.00001
NM_012463.4(ATP6V0A2):c.887A>G (p.Tyr296Cys) rs753314616 0.00001
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro) rs773660973 0.00001
NM_013339.4(ALG6):c.*1464A>C rs1316941453 0.00001
NM_013339.4(ALG6):c.*152T>C rs886046473 0.00001
NM_013339.4(ALG6):c.*174A>G rs886046474 0.00001
NM_013339.4(ALG6):c.*436T>C rs550372028 0.00001
NM_013339.4(ALG6):c.101T>C (p.Met34Thr) rs750689981 0.00001
NM_013339.4(ALG6):c.1129A>G (p.Met377Val) rs934616664 0.00001
NM_013339.4(ALG6):c.1135C>T (p.Pro379Ser) rs150976885 0.00001
NM_013339.4(ALG6):c.1138C>A (p.Leu380Ile) rs1461862944 0.00001
NM_013339.4(ALG6):c.1204G>A (p.Val402Ile) rs1212756714 0.00001
NM_013339.4(ALG6):c.1319A>G (p.Gln440Arg) rs1475278999 0.00001
NM_013339.4(ALG6):c.1326+6T>A rs765364882 0.00001
NM_013339.4(ALG6):c.1366A>G (p.Met456Val) rs1463890121 0.00001
NM_013339.4(ALG6):c.1399C>T (p.Pro467Ser) rs752244400 0.00001
NM_013339.4(ALG6):c.1400C>T (p.Pro467Leu) rs548994709 0.00001
NM_013339.4(ALG6):c.1444T>G (p.Phe482Val) rs1215619833 0.00001
NM_013339.4(ALG6):c.1451T>A (p.Phe484Tyr) rs749363896 0.00001
NM_013339.4(ALG6):c.1456T>G (p.Leu486Val) rs1274029656 0.00001
NM_013339.4(ALG6):c.1524del (p.Ter508TyrextTer?) rs759636698 0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu) rs201074540 0.00001
NM_013339.4(ALG6):c.237T>G (p.His79Gln) rs747184607 0.00001
NM_013339.4(ALG6):c.26T>C (p.Val9Ala) rs1456036206 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.328C>G (p.Leu110Val) rs753362025 0.00001
NM_013339.4(ALG6):c.37A>C (p.Ile13Leu) rs1407217511 0.00001
NM_013339.4(ALG6):c.430-9T>G rs769256352 0.00001
NM_013339.4(ALG6):c.470T>G (p.Ile157Ser) rs768049817 0.00001
NM_013339.4(ALG6):c.475A>G (p.Ile159Val) rs531362960 0.00001
NM_013339.4(ALG6):c.476T>C (p.Ile159Thr) rs1037253381 0.00001
NM_013339.4(ALG6):c.529G>A (p.Gly177Ser) rs1250215676 0.00001
NM_013339.4(ALG6):c.574G>A (p.Ala192Thr) rs878890161 0.00001
NM_013339.4(ALG6):c.591A>G (p.Ile197Met) rs753024606 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_013339.4(ALG6):c.816+4T>C rs762931650 0.00001
NM_013339.4(ALG6):c.862A>G (p.Ile288Val) rs557790186 0.00001
NM_013339.4(ALG6):c.886A>G (p.Ile296Val) rs1450720827 0.00001
NM_013339.4(ALG6):c.914C>T (p.Thr305Met) rs546145736 0.00001
NM_013339.4(ALG6):c.997G>C (p.Ala333Pro) rs1212125571 0.00001
NM_014908.3(DOLK):c.-335G>C rs543331952 0.00001
NM_014908.3(DOLK):c.-394A>G rs750538185 0.00001
NM_014908.4(DOLK):c.-149G>A rs886063515 0.00001
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln) rs759025031 0.00001
NM_014908.4(DOLK):c.1065C>G (p.Asp355Glu) rs371882757 0.00001
NM_014908.4(DOLK):c.1129C>T (p.Arg377Cys) rs868232833 0.00001
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala) rs747285047 0.00001
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) rs982668501 0.00001
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly) rs753795845 0.00001
NM_014908.4(DOLK):c.1196G>A (p.Arg399Gln) rs748688866 0.00001
NM_014908.4(DOLK):c.1249C>T (p.Leu417Phe) rs771007659 0.00001
NM_014908.4(DOLK):c.128C>T (p.Ser43Leu) rs1352546858 0.00001
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829 0.00001
NM_014908.4(DOLK):c.1312C>T (p.Leu438Phe) rs112448460 0.00001
NM_014908.4(DOLK):c.1357G>C (p.Val453Leu) rs1294479059 0.00001
NM_014908.4(DOLK):c.1372G>A (p.Gly458Ser) rs748468540 0.00001
NM_014908.4(DOLK):c.1373G>T (p.Gly458Val) rs999023298 0.00001
NM_014908.4(DOLK):c.1413G>C (p.Lys471Asn) rs1336940137 0.00001
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu) rs780799327 0.00001
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val) rs767693634 0.00001
NM_014908.4(DOLK):c.1535C>T (p.Thr512Ile) rs1166313359 0.00001
NM_014908.4(DOLK):c.1541C>G (p.Ser514Cys) rs537893599 0.00001
NM_014908.4(DOLK):c.1579C>T (p.Leu527Phe) rs1841648949 0.00001
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe) rs140350881 0.00001
NM_014908.4(DOLK):c.172T>G (p.Tyr58Asp) rs1403792413 0.00001
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu) rs771383826 0.00001
NM_014908.4(DOLK):c.187C>G (p.Leu63Val) rs1385561774 0.00001
NM_014908.4(DOLK):c.194A>G (p.Gln65Arg) rs754744977 0.00001
NM_014908.4(DOLK):c.203G>T (p.Ser68Ile) rs753603168 0.00001
NM_014908.4(DOLK):c.216G>T (p.Gln72His) rs767180137 0.00001
NM_014908.4(DOLK):c.266C>T (p.Pro89Leu) rs1310123344 0.00001
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp) rs747555089 0.00001
NM_014908.4(DOLK):c.374del (p.Ser125fs) rs1156844272 0.00001
NM_014908.4(DOLK):c.401G>A (p.Arg134His) rs768596252 0.00001
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe) rs780422418 0.00001
NM_014908.4(DOLK):c.448G>T (p.Val150Phe) rs900642092 0.00001
NM_014908.4(DOLK):c.463A>T (p.Met155Leu) rs1218829181 0.00001
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr) rs1246967572 0.00001
NM_014908.4(DOLK):c.489G>T (p.Glu163Asp) rs1329633231 0.00001
NM_014908.4(DOLK):c.493A>G (p.Ile165Val) rs762432181 0.00001
NM_014908.4(DOLK):c.513T>C (p.Leu171=) rs886063514 0.00001
NM_014908.4(DOLK):c.523G>A (p.Val175Ile) rs145177598 0.00001
NM_014908.4(DOLK):c.534C>A (p.Asn178Lys) rs1201588280 0.00001
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu) rs377658203 0.00001
NM_014908.4(DOLK):c.581C>T (p.Ala194Val) rs763132281 0.00001
NM_014908.4(DOLK):c.603T>G (p.Ile201Met) rs765382712 0.00001
NM_014908.4(DOLK):c.703G>A (p.Val235Ile) rs759019995 0.00001
NM_014908.4(DOLK):c.710T>C (p.Met237Thr) rs201363976 0.00001
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser) rs765475110 0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786 0.00001
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr) rs764980710 0.00001
NM_014908.4(DOLK):c.767C>T (p.Ser256Phe) rs1186154711 0.00001
NM_014908.4(DOLK):c.86C>T (p.Ala29Val) rs1401208309 0.00001
NM_014908.4(DOLK):c.908A>G (p.Tyr303Cys) rs780974264 0.00001
NM_014908.4(DOLK):c.910T>C (p.Trp304Arg) rs1413752276 0.00001
NM_014908.4(DOLK):c.964C>T (p.Arg322Trp) rs1350623268 0.00001
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro) rs750702584 0.00001
NM_019109.5(ALG1):c.1060C>T (p.Pro354Ser) rs983547319 0.00001
NM_019109.5(ALG1):c.1103C>T (p.Thr368Met) rs762385611 0.00001
NM_019109.5(ALG1):c.1185G>C (p.Lys395Asn) rs1308517122 0.00001
NM_019109.5(ALG1):c.1282C>A (p.Pro428Thr) rs1413293071 0.00001
NM_019109.5(ALG1):c.1293G>A (p.Ala431=) rs1047714 0.00001
NM_019109.5(ALG1):c.1316A>G (p.Lys439Arg) rs1281758881 0.00001
NM_019109.5(ALG1):c.1360G>A (p.Val454Met) rs1957095896 0.00001
NM_019109.5(ALG1):c.142C>T rs1051082443 0.00001
NM_019109.5(ALG1):c.203T>A (p.Phe68Tyr) rs1314923558 0.00001
NM_019109.5(ALG1):c.262T>G (p.Leu88Val) rs794727301 0.00001
NM_019109.5(ALG1):c.287T>C (p.Val96Ala) rs534863399 0.00001
NM_019109.5(ALG1):c.296G>A (p.Arg99Gln) rs1349600746 0.00001
NM_019109.5(ALG1):c.377A>G (p.Tyr126Cys) rs200094659 0.00001
NM_019109.5(ALG1):c.443G>T (p.Cys148Phe) rs767756401 0.00001
NM_019109.5(ALG1):c.516T>G (p.His172Gln) rs1310088513 0.00001
NM_019109.5(ALG1):c.575A>G (p.Asn192Ser) rs760563077 0.00001
NM_019109.5(ALG1):c.590A>G (p.Asn197Ser) rs780593921 0.00001
NM_019109.5(ALG1):c.599G>A (p.Arg200Gln) rs199674071 0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00001
NM_019109.5(ALG1):c.70A>G (p.Lys24Glu) rs1386626500 0.00001
NM_019109.5(ALG1):c.748C>T (p.Pro250Ser) rs1263087642 0.00001
NM_019109.5(ALG1):c.782C>T (p.Thr261Met) rs534622519 0.00001
NM_019109.5(ALG1):c.899A>G (p.Glu300Gly) rs1234795312 0.00001
NM_019109.5(ALG1):c.961+6G>T rs1304012856 0.00001
NM_021645.6(UTP14C):c.276C>T (p.Pro92=) rs144836764 0.00001
NM_021645.6(UTP14C):c.575A>G (p.His192Arg) rs978706850 0.00001
NM_021645.6(UTP14C):c.63G>T (p.Leu21Phe) rs775998263 0.00001
NM_024079.5(ALG8):c.1256C>T (p.Pro419Leu) rs1859926872 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1556C>T (p.Ala519Val) rs990677542 0.00001
NM_024079.5(ALG8):c.346C>T (p.Leu116Phe) rs1401833410 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.439G>T (p.Val147Leu) rs748027702 0.00001
NM_024079.5(ALG8):c.479-3C>G rs753257659 0.00001
NM_024079.5(ALG8):c.623C>T (p.Ala208Val) rs886048688 0.00001
NM_024079.5(ALG8):c.678G>T (p.Gly226=) rs754476593 0.00001
NM_024079.5(ALG8):c.86T>C (p.Ile29Thr) rs1276719307 0.00001
NM_024105.4(ALG12):c.*354G>A rs769523769 0.00001
NM_024105.4(ALG12):c.-79+3C>T rs886057616 0.00001
NM_024105.4(ALG12):c.1043T>G (p.Val348Gly) rs747813537 0.00001
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724 0.00001
NM_024105.4(ALG12):c.1120G>A (p.Val374Ile) rs761515996 0.00001
NM_024105.4(ALG12):c.117G>A (p.Leu39=) rs371814322 0.00001
NM_024105.4(ALG12):c.1265C>T (p.Pro422Leu) rs759794733 0.00001
NM_024105.4(ALG12):c.1339A>G (p.Thr447Ala) rs996114708 0.00001
NM_024105.4(ALG12):c.1389C>A (p.Asn463Lys) rs745510179 0.00001
NM_024105.4(ALG12):c.1411A>G (p.Asn471Asp) rs2060527901 0.00001
NM_024105.4(ALG12):c.1446G>C (p.Glu482Asp) rs1569172835 0.00001
NM_024105.4(ALG12):c.1449G>A (p.Arg483=) rs886057613 0.00001
NM_024105.4(ALG12):c.1460C>T (p.Pro487Leu) rs778688714 0.00001
NM_024105.4(ALG12):c.223G>A (p.Ala75Thr) rs761301009 0.00001
NM_024105.4(ALG12):c.327T>G (p.Phe109Leu) rs886057614 0.00001
NM_024105.4(ALG12):c.377T>G (p.Val126Gly) rs556496917 0.00001
NM_024105.4(ALG12):c.390C>G (p.Phe130Leu) rs1010347575 0.00001
NM_024105.4(ALG12):c.415C>T (p.His139Tyr) rs200490756 0.00001
NM_024105.4(ALG12):c.449A>G (p.Asn150Ser) rs2060570009 0.00001
NM_024105.4(ALG12):c.476T>G (p.Leu159Arg) rs1410146441 0.00001
NM_024105.4(ALG12):c.508G>A (p.Ala170Thr) rs751491422 0.00001
NM_024105.4(ALG12):c.550A>G (p.Arg184Gly) rs1569176254 0.00001
NM_024105.4(ALG12):c.622A>T (p.Arg208Ter) rs1464756874 0.00001
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365 0.00001
NM_024105.4(ALG12):c.713C>T (p.Pro238Leu) rs1339045983 0.00001
NM_024105.4(ALG12):c.863C>T (p.Thr288Met) rs748227291 0.00001
NM_024105.4(ALG12):c.872C>T (p.Pro291Leu) rs778608834 0.00001
NM_024105.4(ALG12):c.887T>C (p.Leu296Pro) rs774052738 0.00001
NM_024105.4(ALG12):c.933C>T (p.Arg311=) rs779215527 0.00001
NM_024105.4(ALG12):c.944A>G (p.Tyr315Cys) rs372655623 0.00001
NM_024105.4(ALG12):c.959T>C (p.Leu320Pro) rs1200180536 0.00001
NM_024105.4(ALG12):c.968C>T (p.Thr323Met) rs754936149 0.00001
NM_024105.4(ALG12):c.983G>A (p.Cys328Tyr) rs1371150654 0.00001
NM_024592.5(SRD5A3):c.*1935C>T rs886059476 0.00001
NM_024592.5(SRD5A3):c.*2134G>A rs886059478 0.00001
NM_024592.5(SRD5A3):c.*2227G>A rs886059480 0.00001
NM_024592.5(SRD5A3):c.*2637T>G rs1369824859 0.00001
NM_024592.5(SRD5A3):c.*873A>G rs1449473949 0.00001
NM_024592.5(SRD5A3):c.-30C>A rs886059471 0.00001
NM_024592.5(SRD5A3):c.169T>C (p.Cys57Arg) rs530006860 0.00001
NM_024592.5(SRD5A3):c.263G>T (p.Gly88Val) rs893706862 0.00001
NM_024592.5(SRD5A3):c.497G>A (p.Gly166Glu) rs879845715 0.00001
NM_024592.5(SRD5A3):c.50C>T (p.Ala17Val) rs1175656094 0.00001
NM_024592.5(SRD5A3):c.517G>A (p.Val173Ile) rs758023141 0.00001
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter) rs765191836 0.00001
NM_024592.5(SRD5A3):c.695C>A (p.Ala232Glu) rs768516153 0.00001
NM_024592.5(SRD5A3):c.821A>G (p.Asn274Ser) rs569181314 0.00001
NM_024740.2(ALG9):c.*2342G>A rs532591210 0.00001
NM_024740.2(ALG9):c.*3079C>T rs886047660 0.00001
NM_024740.2(ALG9):c.*3125A>T rs547384257 0.00001
NM_024740.2(ALG9):c.*3212C>T rs528920657 0.00001
NM_024740.2(ALG9):c.*365A>G rs886047682 0.00001
NM_024740.2(ALG9):c.*726C>G rs1414677485 0.00001
NM_024740.2(ALG9):c.*77G>A rs984910253 0.00001
NM_024740.2(ALG9):c.*788A>G rs559698025 0.00001
NM_024740.2(ALG9):c.1166C>T (p.Ala389Val) rs1555122792 0.00001
NM_024740.2(ALG9):c.1384A>G (p.Ile462Val) rs782350313 0.00001
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00001
NM_024740.2(ALG9):c.326A>G (p.Tyr109Cys) rs782251524 0.00001
NM_024740.2(ALG9):c.535C>T (p.Leu179Phe) rs782147690 0.00001
NM_024740.2(ALG9):c.53G>A (p.Gly18Glu) rs1555158997 0.00001
NM_024740.2(ALG9):c.879T>G (p.His293Gln) rs1285072714 0.00001
NM_033087.4(ALG2):c.1037C>T (p.Ser346Leu) rs544811110 0.00001
NM_033087.4(ALG2):c.1051G>C (p.Glu351Gln) rs1828726794 0.00001
NM_033087.4(ALG2):c.1078T>C (p.Phe360Leu) rs1828725925 0.00001
NM_033087.4(ALG2):c.107C>T (p.Ala36Val) rs567637718 0.00001
NM_033087.4(ALG2):c.1095C>G (p.Asp365Glu) rs754159662 0.00001
NM_033087.4(ALG2):c.1115C>T (p.Ala372Val) rs762887574 0.00001
NM_033087.4(ALG2):c.1177A>G (p.Arg393Gly) rs963221673 0.00001
NM_033087.4(ALG2):c.1239A>C (p.Lys413Asn) rs1475354932 0.00001
NM_033087.4(ALG2):c.1246G>C (p.Val416Leu) rs749613639 0.00001
NM_033087.4(ALG2):c.168G>A (p.Pro56=) rs1225254115 0.00001
NM_033087.4(ALG2):c.202G>A (p.Val68Met) rs770103603 0.00001
NM_033087.4(ALG2):c.219C>G (p.Asp73Glu) rs755705607 0.00001
NM_033087.4(ALG2):c.268G>T (p.Ala90Ser) rs941593352 0.00001
NM_033087.4(ALG2):c.272A>C (p.Tyr91Ser) rs910168958 0.00001
NM_033087.4(ALG2):c.296T>C (p.Leu99Pro) rs770722154 0.00001
NM_033087.4(ALG2):c.29_31del (p.Asp10_Ser11delinsAla) rs762654045 0.00001
NM_033087.4(ALG2):c.30del (p.Ser11fs) rs763575022 0.00001
NM_033087.4(ALG2):c.386G>A (p.Arg129Gln) rs1025210566 0.00001
NM_033087.4(ALG2):c.434C>T (p.Thr145Ile) rs752746581 0.00001
NM_033087.4(ALG2):c.473C>T (p.Pro158Leu) rs746092484 0.00001
NM_033087.4(ALG2):c.489G>C (p.Glu163Asp) rs1486842886 0.00001
NM_033087.4(ALG2):c.572T>C (p.Leu191Pro) rs759789517 0.00001
NM_033087.4(ALG2):c.617C>T (p.Thr206Ile) rs1166295828 0.00001
NM_033087.4(ALG2):c.619A>G (p.Ser207Gly) rs745514949 0.00001
NM_033087.4(ALG2):c.629C>G (p.Ser210Ter) rs139547697 0.00001
NM_033087.4(ALG2):c.703G>A (p.Glu235Lys) rs189167741 0.00001
NM_033087.4(ALG2):c.764C>T (p.Thr255Ile) rs766853240 0.00001
NM_033087.4(ALG2):c.76G>A (p.Val26Met) rs1280699944 0.00001
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro) rs202053471 0.00001
NM_033087.4(ALG2):c.947C>T (p.Thr316Met) rs764242401 0.00001
NM_052859.4(RFT1):c.*1900C>T rs202235284 0.00001
NM_052859.4(RFT1):c.*3348A>G rs1383425042 0.00001
NM_052859.4(RFT1):c.*968A>G rs1159558402 0.00001
NM_052859.4(RFT1):c.1100C>A (p.Ser367Tyr) rs991499046 0.00001
NM_052859.4(RFT1):c.1102G>A (p.Gly368Ser) rs483352764 0.00001
NM_052859.4(RFT1):c.1169G>A (p.Cys390Tyr) rs758102329 0.00001
NM_052859.4(RFT1):c.1183G>A (p.Ala395Thr) rs765115802 0.00001
NM_052859.4(RFT1):c.1204G>A (p.Asp402Asn) rs760448271 0.00001
NM_052859.4(RFT1):c.1315A>G (p.Met439Val) rs754783004 0.00001
NM_052859.4(RFT1):c.1355G>A (p.Arg452His) rs372822382 0.00001
NM_052859.4(RFT1):c.1358A>G (p.Tyr453Cys) rs761109723 0.00001
NM_052859.4(RFT1):c.1376A>G (p.His459Arg) rs144531852 0.00001
NM_052859.4(RFT1):c.1391G>A (p.Gly464Asp) rs1191825046 0.00001
NM_052859.4(RFT1):c.1417G>A (p.Gly473Arg) rs754212502 0.00001
NM_052859.4(RFT1):c.1454C>T (p.Ser485Leu) rs377516481 0.00001
NM_052859.4(RFT1):c.149+5G>A rs775590840 0.00001
NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg) rs927269749 0.00001
NM_052859.4(RFT1):c.155C>T (p.Thr52Met) rs764531159 0.00001
NM_052859.4(RFT1):c.201C>T (p.Arg67=) rs954135080 0.00001
NM_052859.4(RFT1):c.271C>T (p.Pro91Ser) rs147915986 0.00001
NM_052859.4(RFT1):c.326A>C (p.Glu109Ala) rs1384861869 0.00001
NM_052859.4(RFT1):c.386C>T (p.Ser129Leu) rs754395993 0.00001
NM_052859.4(RFT1):c.541A>G (p.Ile181Val) rs771804132 0.00001
NM_052859.4(RFT1):c.558+6A>T rs886058726 0.00001
NM_052859.4(RFT1):c.63G>A (p.Gln21=) rs139372284 0.00001
NM_052859.4(RFT1):c.64G>A (p.Val22Met) rs374252619 0.00001
NM_052859.4(RFT1):c.665C>T (p.Thr222Ile) rs1323618296 0.00001
NM_052859.4(RFT1):c.698C>T (p.Ala233Val) rs751030368 0.00001
NM_052859.4(RFT1):c.728C>T (p.Thr243Ile) rs762597470 0.00001
NM_052859.4(RFT1):c.839T>C (p.Ile280Thr) rs757620281 0.00001
NM_052859.4(RFT1):c.968C>G (p.Ala323Gly) rs770086765 0.00001
NM_138459.5(NUS1):c.100A>G (p.Asn34Asp) rs934670535 0.00001
NM_138459.5(NUS1):c.154C>G (p.Leu52Val) rs1472312886 0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 0.00001
NM_138459.5(NUS1):c.185T>G (p.Val62Gly) rs754191035 0.00001
NM_138459.5(NUS1):c.202C>T (p.His68Tyr) rs1392977734 0.00001
NM_138459.5(NUS1):c.262C>T (p.Arg88Cys) rs1426327353 0.00001
NM_138459.5(NUS1):c.29G>A (p.Arg10Gln) rs1369494529 0.00001
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg) rs540846579 0.00001
NM_138459.5(NUS1):c.351C>G (p.Ile117Met) rs1344911571 0.00001
NM_138459.5(NUS1):c.46C>T (p.Leu16Phe) rs962512059 0.00001
NM_138459.5(NUS1):c.487G>C (p.Asp163His) rs369403261 0.00001
NM_138459.5(NUS1):c.538C>G (p.Gln180Glu) rs751210637 0.00001
NM_138459.5(NUS1):c.601G>A (p.Val201Ile) rs1238998019 0.00001
NM_138459.5(NUS1):c.698A>G (p.Asn233Ser) rs1198292880 0.00001
NM_138459.5(NUS1):c.787A>G (p.Ile263Val) rs1773460765 0.00001
NM_138459.5(NUS1):c.790G>A (p.Val264Ile) rs1562183021 0.00001
NM_138459.5(NUS1):c.845G>A (p.Arg282His) rs140791750 0.00001
NM_153741.2(DPM3):c.178C>T (p.Arg60Cys) rs766751249 0.00001
NM_153741.2(DPM3):c.196G>T (p.Asp66Tyr) rs1204451277 0.00001
NM_153741.2(DPM3):c.208G>A (p.Ala70Thr) rs776662775 0.00001
NM_153741.2(DPM3):c.218A>C (p.Glu73Ala) rs745807155 0.00001
NM_153741.2(DPM3):c.266G>A (p.Gly89Glu) rs758821383 0.00001
NM_178862.3(STT3B):c.1342A>G (p.Ile448Val) rs559861697 0.00001
NM_178862.3(STT3B):c.490G>A (p.Val164Ile) rs1223992368 0.00001
NM_178862.3(STT3B):c.619A>G (p.Ile207Val) rs780102016 0.00001
NM_201400.4(EEF2KMT):c.*893A>C rs1047764 0.00001
NC_000001.10:g.(?_155112438)_(155112716_?)dup
NC_000001.10:g.(?_19199339)_(22987879_?)dup
NC_000001.10:g.(?_64059160)_(64059425_?)dup
NC_000001.11:g.(?_155139952)_(155140340_?)dup
NC_000001.11:g.(?_20652359)_(20661421_?)del
NC_000003.11:g.(?_182733226)_(184094097_?)del
NC_000003.11:g.(?_52109903)_(53164416_?)del
NC_000003.11:g.(?_53125919)_(53164416_?)dup
NC_000003.11:g.(?_53133377)_(53133522_?)del
NC_000003.11:g.(?_53155766)_(53156657_?)del
NC_000006.11:g.(?_117786180)_(117997268_?)dup
NC_000006.11:g.(?_118028088)_(118028178_?)del
NC_000009.11:g.(?_100190748)_(103062956_?)dup
NC_000009.11:g.(?_130216797)_(130953151_?)dup
NC_000009.11:g.(?_131707946)_(131709602_?)dup
NC_000009.12:g.(?_128945677)_(128947313_?)dup
NC_000011.9:g.(?_118967698)_(119170501_?)dup
NC_000012.11:g.(?_124191253)_(124207015_?)dup
NC_000013.10:g.(?_52538988)_(52602746_?)dup
NC_000016.10:g.(?_8750402)_(8801930_?)dup
NC_000016.10:g.(?_8764049)_(8811733_?)dup
NC_000016.10:g.(?_8768173)_(8832245_?)dup
NC_000016.10:g.(?_8772760)_(8847845_?)dup
NC_000016.10:g.(?_8781289)_(8847845_?)dup
NC_000016.9:g.(?_5121851)_(5127555_?)dup
NC_000016.9:g.(?_5130927)_(5131077_?)dup
NC_000016.9:g.(?_5132540)_(5134882_?)dup
NC_000016.9:g.(?_5134731)_(5134882_?)dup
NC_000016.9:g.(?_8839838)_(8900284_?)dup
NC_000016.9:g.(?_8839838)_(8905055_?)dup
NC_000016.9:g.(?_8839838)_(8941682_?)dup
NC_000016.9:g.(?_8891573)_(8941682_?)dup
NC_000016.9:g.(?_8891720)_(8900284_?)dup
NC_000016.9:g.(?_8926102)_(8941682_?)dup
NC_000020.10:g.(?_49557382)_(49558683_?)dup
NC_000022.10:g.(?_50167881)_(51066207_?)dup
NC_000022.10:g.(?_50297486)_(50301612_?)del
NC_000022.11:g.(?_49903818)_(49907964_?)del
NC_000023.10:g.(?_109919459)_(111003227_?)del
NC_000023.10:g.(?_110544895)_(111003247_?)del
NC_000023.10:g.(?_110924427)_(111003247_?)dup
NC_000023.10:g.(?_110973603)_(110973828_?)del
NC_000023.11:g.(?_111301667)_(111760019_?)dup
NM_000303.3(PMM2):c.*1032C>G rs79686490
NM_000303.3(PMM2):c.*1072A>G rs2060947173
NM_000303.3(PMM2):c.*1142A>T rs760967158
NM_000303.3(PMM2):c.*1218A>G rs557668852
NM_000303.3(PMM2):c.*1297C>A rs183853029
NM_000303.3(PMM2):c.*1312T>C rs905795044
NM_000303.3(PMM2):c.*1352G>C rs750545597
NM_000303.3(PMM2):c.*1375G>T rs886052472
NM_000303.3(PMM2):c.*137G>A rs886052459
NM_000303.3(PMM2):c.*1380A>G rs2060949906
NM_000303.3(PMM2):c.*1424C>T rs552732593
NM_000303.3(PMM2):c.*1440C>G rs147950728
NM_000303.3(PMM2):c.*255A>G rs2060940260
NM_000303.3(PMM2):c.*275A>T rs553522916
NM_000303.3(PMM2):c.*276C>G rs573179742
NM_000303.3(PMM2):c.*421G>T rs1178910267
NM_000303.3(PMM2):c.*458C>T rs1380890616
NM_000303.3(PMM2):c.*53G>C rs762640350
NM_000303.3(PMM2):c.*91C>T
NM_000303.3(PMM2):c.117C>G (p.Ile39Met)
NM_000303.3(PMM2):c.127G>T (p.Val43Leu) rs376754460
NM_000303.3(PMM2):c.129G>A (p.Val43=) rs777608895
NM_000303.3(PMM2):c.137G>A (p.Gly46Glu) rs2141017011
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
NM_000303.3(PMM2):c.169G>C (p.Gly57Arg)
NM_000303.3(PMM2):c.178+3A>G
NM_000303.3(PMM2):c.179-15del rs145496357
NM_000303.3(PMM2):c.188A>T (p.Lys63Ile)
NM_000303.3(PMM2):c.191A>C (p.Tyr64Ser)
NM_000303.3(PMM2):c.203T>G (p.Phe68Cys) rs373788015
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.223G>C (p.Ala75Pro)
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
NM_000303.3(PMM2):c.248G>A (p.Cys83Tyr)
NM_000303.3(PMM2):c.261T>G (p.Ile87Met)
NM_000303.3(PMM2):c.264A>C (p.Gln88His)
NM_000303.3(PMM2):c.279G>T (p.Glu93Asp)
NM_000303.3(PMM2):c.28C>G (p.Leu10Val)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.328A>G (p.Ile110Val)
NM_000303.3(PMM2):c.329T>G (p.Ile110Ser) rs2141020030
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.341AGA[1] (p.Lys115del) rs1555449316
NM_000303.3(PMM2):c.347+15A>C rs751222355
NM_000303.3(PMM2):c.347+3G>A
NM_000303.3(PMM2):c.348-2_348-1insAA
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.352A>G (p.Thr118Ala) rs886043289
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)
NM_000303.3(PMM2):c.363A>T (p.Glu121Asp) rs2141022972
NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)
NM_000303.3(PMM2):c.405C>A (p.Ser135Arg)
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn) rs1473030550
NM_000303.3(PMM2):c.410G>C (p.Ser137Thr) rs2060675203
NM_000303.3(PMM2):c.434A>G (p.Tyr145Cys)
NM_000303.3(PMM2):c.447A>T (p.Lys149Asn)
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000303.3(PMM2):c.463C>G (p.Gln155Glu)
NM_000303.3(PMM2):c.472G>A (p.Val158Ile) rs969802549
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile) rs1162452555
NM_000303.3(PMM2):c.485G>A (p.Arg162Gln)
NM_000303.3(PMM2):c.488A>C (p.Lys163Thr)
NM_000303.3(PMM2):c.490G>C (p.Glu164Gln) rs2060678778
NM_000303.3(PMM2):c.4G>A (p.Ala2Thr) rs2141014078
NM_000303.3(PMM2):c.508C>T (p.Leu170Phe) rs183384745
NM_000303.3(PMM2):c.512C>T (p.Thr171Met)
NM_000303.3(PMM2):c.521T>C (p.Ile174Thr)
NM_000303.3(PMM2):c.522A>G (p.Ile174Met)
NM_000303.3(PMM2):c.523+5T>C
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.534C>G (p.Ile178Met)
NM_000303.3(PMM2):c.539T>C (p.Phe180Ser) rs1293479073
NM_000303.3(PMM2):c.544G>C (p.Val182Leu) rs750862179
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.552T>C (p.Pro184=) rs560182098
NM_000303.3(PMM2):c.554A>G (p.Asp185Gly) rs1386173214
NM_000303.3(PMM2):c.56C>T (p.Ala19Val) rs750307011
NM_000303.3(PMM2):c.571T>C (p.Tyr191His) rs1267170921
NM_000303.3(PMM2):c.593A>G (p.Asn198Ser) rs773420873
NM_000303.3(PMM2):c.598G>A (p.Gly200Ser)
NM_000303.3(PMM2):c.599G>T (p.Gly200Val)
NM_000303.3(PMM2):c.59C>G (p.Pro20Arg) rs2060588870
NM_000303.3(PMM2):c.59C>T (p.Pro20Leu)
NM_000303.3(PMM2):c.602A>G (p.Tyr201Cys)
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.618C>A (p.Phe206Leu) rs1460691341
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.627C>G (p.Asp209Glu)
NM_000303.3(PMM2):c.631A>G (p.Thr211Ala)
NM_000303.3(PMM2):c.640-13C>A rs372181885
NM_000303.3(PMM2):c.640-16C>G rs2141051377
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.651C>A (p.Asp217Glu) rs752614554
NM_000303.3(PMM2):c.653dup (p.His218fs) rs1555453241
NM_000303.3(PMM2):c.660C>G (p.Ile220Met)
NM_000303.3(PMM2):c.67-6A>G
NM_000303.3(PMM2):c.671C>G (p.Pro224Arg) rs778488908
NM_000303.3(PMM2):c.671C>T (p.Pro224Leu)
NM_000303.3(PMM2):c.697G>A (p.Ala233Thr)
NM_000303.3(PMM2):c.701C>T (p.Pro234Leu)
NM_000303.3(PMM2):c.703G>C (p.Glu235Gln)
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000303.3(PMM2):c.706G>A (p.Asp236Asn)
NM_000303.3(PMM2):c.708C>G (p.Asp236Glu)
NM_000303.3(PMM2):c.735C>G (p.Phe245Leu)
NM_000303.3(PMM2):c.737C>A (p.Ser246Tyr) rs769177253
NM_000303.3(PMM2):c.737_739del (p.Ser246del) rs764817746
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.76A>G (p.Lys26Glu)
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638
NM_001004127.3(ALG11):c.1036C>T (p.Arg346Cys)
NM_001004127.3(ALG11):c.1220G>T (p.Cys407Phe)
NM_001004127.3(ALG11):c.1273G>A (p.Asp425Asn)
NM_001004127.3(ALG11):c.1349C>T (p.Ala450Val) rs757069433
NM_001004127.3(ALG11):c.1462G>T (p.Glu488Ter)
NM_001004127.3(ALG11):c.1476_1479del (p.Lys492fs)
NM_001004127.3(ALG11):c.168C>G (p.Ser56Arg) rs1954160784
NM_001004127.3(ALG11):c.187A>T (p.Met63Leu) rs2140832522
NM_001004127.3(ALG11):c.190G>A (p.Val64Met) rs1419202736
NM_001004127.3(ALG11):c.238A>G (p.Arg80Gly)
NM_001004127.3(ALG11):c.251G>A (p.Cys84Tyr)
NM_001004127.3(ALG11):c.281C>G (p.Pro94Arg) rs771281050
NM_001004127.3(ALG11):c.31T>G (p.Cys11Gly) rs1444016944
NM_001004127.3(ALG11):c.364A>C (p.Ile122Leu)
NM_001004127.3(ALG11):c.494T>C (p.Met165Thr)
NM_001004127.3(ALG11):c.526A>G (p.Met176Val) rs1268308514
NM_001004127.3(ALG11):c.5C>T (p.Ala2Val) rs1363416785
NM_001004127.3(ALG11):c.636T>G (p.Asn212Lys) rs1954216629
NM_001004127.3(ALG11):c.662C>G (p.Ala221Gly) rs142637770
NM_001004127.3(ALG11):c.75C>T (p.Leu25=) rs886050312
NM_001004127.3(ALG11):c.770A>G (p.Asn257Ser)
NM_001004127.3(ALG11):c.778T>C (p.Trp260Arg)
NM_001004127.3(ALG11):c.823A>G (p.Thr275Ala) rs1401571024
NM_001004127.3(ALG11):c.899G>A (p.Gly300Glu) rs1593903383
NM_001004127.3(ALG11):c.900A>T (p.Gly300=) rs376118160
NM_001004127.3(ALG11):c.932C>T (p.Pro311Leu)
NM_001004127.3(ALG11):c.937A>G (p.Lys313Glu) rs2140840089
NM_001004127.3(ALG11):c.991G>T (p.Val331Phe) rs750430228
NM_001006941.2(ALG3):c.46G>T (p.Gly16Trp) rs373046727
NM_001099922.3(ALG13):c.1001A>G (p.Asp334Gly) rs1940092970
NM_001099922.3(ALG13):c.1003A>C (p.Lys335Gln)
NM_001099922.3(ALG13):c.1006A>G (p.Ile336Val)
NM_001099922.3(ALG13):c.1028G>A (p.Ser343Asn)
NM_001099922.3(ALG13):c.1070G>A (p.Ser357Asn)
NM_001099922.3(ALG13):c.1114G>A (p.Asp372Asn) rs2148112840
NM_001099922.3(ALG13):c.1143G>C (p.Leu381Phe)
NM_001099922.3(ALG13):c.1144A>G (p.Lys382Glu) rs1940898635
NM_001099922.3(ALG13):c.114C>G (p.Ile38Met) rs1206750653
NM_001099922.3(ALG13):c.1154T>G (p.Ile385Ser)
NM_001099922.3(ALG13):c.1225G>C (p.Asp409His) rs940730126
NM_001099922.3(ALG13):c.1264G>A (p.Gly422Ser) rs990346795
NM_001099922.3(ALG13):c.1310G>A (p.Gly437Glu)
NM_001099922.3(ALG13):c.1317A>C (p.Glu439Asp)
NM_001099922.3(ALG13):c.1318G>A (p.Glu440Lys) rs2148136453
NM_001099922.3(ALG13):c.1326+3T>A
NM_001099922.3(ALG13):c.1436-3T>C
NM_001099922.3(ALG13):c.1474C>G (p.Gln492Glu)
NM_001099922.3(ALG13):c.1481A>G (p.Tyr494Cys)
NM_001099922.3(ALG13):c.1483T>G (p.Leu495Val)
NM_001099922.3(ALG13):c.1491C>A (p.Asp497Glu)
NM_001099922.3(ALG13):c.1501-5T>C
NM_001099922.3(ALG13):c.1518A>T (p.Glu506Asp) rs1941679245
NM_001099922.3(ALG13):c.1562A>G (p.Asn521Ser)
NM_001099922.3(ALG13):c.159T>C (p.Thr53=)
NM_001099922.3(ALG13):c.1619C>G (p.Ala540Gly) rs1234385710
NM_001099922.3(ALG13):c.1641A>T (p.Gln547His) rs768589790
NM_001099922.3(ALG13):c.1642G>A (p.Val548Met) rs1941813123
NM_001099922.3(ALG13):c.164C>T (p.Ser55Leu) rs1933620653
NM_001099922.3(ALG13):c.1651G>C (p.Val551Leu)
NM_001099922.3(ALG13):c.1655C>G (p.Pro552Arg)
NM_001099922.3(ALG13):c.1671G>T (p.Met557Ile)
NM_001099922.3(ALG13):c.1685G>C (p.Gly562Ala)
NM_001099922.3(ALG13):c.1691G>T (p.Gly564Val)
NM_001099922.3(ALG13):c.1706C>T (p.Pro569Leu)
NM_001099922.3(ALG13):c.1730-9G>A rs767872924
NM_001099922.3(ALG13):c.1780C>G (p.Arg594Gly)
NM_001099922.3(ALG13):c.1831C>G (p.Leu611Val) rs199505558
NM_001099922.3(ALG13):c.1838C>G (p.Pro613Arg)
NM_001099922.3(ALG13):c.1842G>T (p.Arg614Ser) rs1942117760
NM_001099922.3(ALG13):c.1843C>G (p.Leu615Val) rs374231091
NM_001099922.3(ALG13):c.1844T>G (p.Leu615Arg)
NM_001099922.3(ALG13):c.1886A>G (p.Tyr629Cys)
NM_001099922.3(ALG13):c.1888T>C (p.Ser630Pro) rs1942124594
NM_001099922.3(ALG13):c.1895C>G (p.Thr632Arg) rs1602745141
NM_001099922.3(ALG13):c.1900G>C (p.Gly634Arg)
NM_001099922.3(ALG13):c.1909A>G (p.Met637Val)
NM_001099922.3(ALG13):c.191A>G (p.Lys64Arg) rs2147626333
NM_001099922.3(ALG13):c.1930C>G (p.Pro644Ala)
NM_001099922.3(ALG13):c.1931C>T (p.Pro644Leu)
NM_001099922.3(ALG13):c.1945C>G (p.Pro649Ala)
NM_001099922.3(ALG13):c.1946C>T (p.Pro649Leu)
NM_001099922.3(ALG13):c.1969A>G (p.Met657Val) rs2148221188
NM_001099922.3(ALG13):c.197C>A (p.Ser66Tyr)
NM_001099922.3(ALG13):c.2003ACA[1] (p.Asn669del) rs1489100083
NM_001099922.3(ALG13):c.2022A>T (p.Lys674Asn)
NM_001099922.3(ALG13):c.2023G>A (p.Val675Ile) rs2148225487
NM_001099922.3(ALG13):c.2024T>G (p.Val675Gly) rs2148225523
NM_001099922.3(ALG13):c.2027A>C (p.Asp676Ala)
NM_001099922.3(ALG13):c.2047A>G (p.Lys683Glu) rs1942189447
NM_001099922.3(ALG13):c.2048A>G (p.Lys683Arg) rs1942189933
NM_001099922.3(ALG13):c.2053T>A (p.Cys685Ser)
NM_001099922.3(ALG13):c.2077T>A (p.Ser693Thr) rs1942193577
NM_001099922.3(ALG13):c.2090G>A (p.Arg697His) rs1416055334
NM_001099922.3(ALG13):c.2106T>G (p.Ser702Arg) rs797044876
NM_001099922.3(ALG13):c.2144A>T (p.Tyr715Phe) rs1569519563
NM_001099922.3(ALG13):c.2206G>A (p.Glu736Lys) rs2148229477
NM_001099922.3(ALG13):c.2222A>G (p.Asp741Gly) rs1942226321
NM_001099922.3(ALG13):c.2237C>T (p.Pro746Leu)
NM_001099922.3(ALG13):c.2239A>G (p.Thr747Ala)
NM_001099922.3(ALG13):c.2261C>T (p.Pro754Leu) rs1242753495
NM_001099922.3(ALG13):c.2282C>T (p.Thr761Ile) rs2148234911
NM_001099922.3(ALG13):c.2291A>G (p.Tyr764Cys)
NM_001099922.3(ALG13):c.2293T>C (p.Cys765Arg) rs927961674
NM_001099922.3(ALG13):c.2296G>A (p.Val766Ile)
NM_001099922.3(ALG13):c.22G>C (p.Val8Leu) rs2147592883
NM_001099922.3(ALG13):c.230T>C (p.Val77Ala) rs1933636414
NM_001099922.3(ALG13):c.2316C>G (p.Ser772Arg) rs1556509706
NM_001099922.3(ALG13):c.2332T>G (p.Leu778Val) rs755678773
NM_001099922.3(ALG13):c.2334G>C (p.Leu778Phe) rs1942288359
NM_001099922.3(ALG13):c.2367T>A (p.Asn789Lys)
NM_001099922.3(ALG13):c.2384A>T (p.Glu795Val) rs2148261992
NM_001099922.3(ALG13):c.2398G>T (p.Ala800Ser)
NM_001099922.3(ALG13):c.2402-3T>C rs1942568665
NM_001099922.3(ALG13):c.2411A>G (p.Tyr804Cys)
NM_001099922.3(ALG13):c.2440G>A (p.Ala814Thr)
NM_001099922.3(ALG13):c.2453A>T (p.Asn818Ile) rs770109323
NM_001099922.3(ALG13):c.2458-12_2458-10del
NM_001099922.3(ALG13):c.2458-15_2486del rs770762084
NM_001099922.3(ALG13):c.2458-1G>A rs1008287339
NM_001099922.3(ALG13):c.2465A>G (p.Gln822Arg)
NM_001099922.3(ALG13):c.2476T>A (p.Ser826Thr)
NM_001099922.3(ALG13):c.2479T>A (p.Cys827Ser) rs1943106113
NM_001099922.3(ALG13):c.2494C>G (p.Gln832Glu) rs2148314775
NM_001099922.3(ALG13):c.2495A>G (p.Gln832Arg)
NM_001099922.3(ALG13):c.2503G>A (p.Val835Ile) rs1943108263
NM_001099922.3(ALG13):c.2516A>G (p.Asn839Ser) rs1943109281
NM_001099922.3(ALG13):c.2519A>G (p.Tyr840Cys) rs1602807307
NM_001099922.3(ALG13):c.2529G>A (p.Lys843=)
NM_001099922.3(ALG13):c.2536G>A (p.Gly846Arg)
NM_001099922.3(ALG13):c.256T>A (p.Cys86Ser) rs1934564084
NM_001099922.3(ALG13):c.2570A>G (p.Asn857Ser) rs1556516921
NM_001099922.3(ALG13):c.2578C>G (p.Pro860Ala) rs2148331392
NM_001099922.3(ALG13):c.2582C>T (p.Ala861Val)
NM_001099922.3(ALG13):c.2587G>T (p.Val863Phe) rs1556516959
NM_001099922.3(ALG13):c.2591T>C (p.Leu864Ser) rs1408463417
NM_001099922.3(ALG13):c.2594C>T (p.Ser865Phe) rs755213977
NM_001099922.3(ALG13):c.2623A>G (p.Ser875Gly)
NM_001099922.3(ALG13):c.2624G>A (p.Ser875Asn) rs757522953
NM_001099922.3(ALG13):c.2635G>C (p.Val879Leu) rs2148332060
NM_001099922.3(ALG13):c.2639C>A (p.Ser880Tyr) rs1556517088
NM_001099922.3(ALG13):c.2650_2652dup (p.Ala884dup) rs1276026793
NM_001099922.3(ALG13):c.2651C>T (p.Ala884Val) rs1556517111
NM_001099922.3(ALG13):c.2668G>C (p.Val890Leu)
NM_001099922.3(ALG13):c.2677C>T (p.Pro893Ser)
NM_001099922.3(ALG13):c.2680A>G (p.Thr894Ala)
NM_001099922.3(ALG13):c.2687G>A (p.Gly896Asp)
NM_001099922.3(ALG13):c.2714A>G (p.Tyr905Cys)
NM_001099922.3(ALG13):c.2731A>G (p.Ile911Val)
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[19] (p.Pro942_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[21] (p.Pro940_Pro945dup) rs750710267
NM_001099922.3(ALG13):c.2754ACC[7] (p.Pro938_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2754ACC[9] (p.Pro940_Pro945del) rs750710267
NM_001099922.3(ALG13):c.2755C>A (p.Pro919Thr) rs1944061818
NM_001099922.3(ALG13):c.2756C>A (p.Pro919Gln)
NM_001099922.3(ALG13):c.2756C>T (p.Pro919Leu)
NM_001099922.3(ALG13):c.2758C>T (p.Pro920Ser)
NM_001099922.3(ALG13):c.2768C>A (p.Pro923Gln)
NM_001099922.3(ALG13):c.2768C>T (p.Pro923Leu) rs1047232159
NM_001099922.3(ALG13):c.2783C>T (p.Pro928Leu)
NM_001099922.3(ALG13):c.2792C>T (p.Pro931Leu)
NM_001099922.3(ALG13):c.2795C>A (p.Pro932Gln) rs773392173
NM_001099922.3(ALG13):c.2795C>T (p.Pro932Leu) rs773392173
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797CCT[5] (p.Pro938_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[6] (p.Pro939_Pro945del)
NM_001099922.3(ALG13):c.2797CCT[7] (p.Pro940_Pro945del) rs56717389
NM_001099922.3(ALG13):c.2797_2798insGAC (p.Pro932_Pro933insArg)
NM_001099922.3(ALG13):c.2798_2799insACCACCACCACCACCACCTCC (p.Pro945_Ala946insProProProProProProPro)
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCC (p.Pro942_Pro945dup) rs1569522034
NM_001099922.3(ALG13):c.2798_2799insACCACCACCTCCTCC (p.Pro945_Ala946insProProProProPro)
NM_001099922.3(ALG13):c.2801C>T (p.Pro934Leu) rs2148405253
NM_001099922.3(ALG13):c.2809C>G (p.Pro937Ala) rs1358741065
NM_001099922.3(ALG13):c.2815C>T (p.Pro939Ser)
NM_001099922.3(ALG13):c.2818C>A (p.Pro940Thr)
NM_001099922.3(ALG13):c.2827C>G (p.Pro943Ala) rs887315764
NM_001099922.3(ALG13):c.2827C>T (p.Pro943Ser)
NM_001099922.3(ALG13):c.2828_2839del (p.Pro943_Ala946del) rs1569522062
NM_001099922.3(ALG13):c.2831_2839del (p.Pro944_Ala946del) rs1944088858
NM_001099922.3(ALG13):c.2845G>A (p.Val949Met)
NM_001099922.3(ALG13):c.284C>T (p.Pro95Leu) rs2147692312
NM_001099922.3(ALG13):c.286C>T (p.Leu96Phe)
NM_001099922.3(ALG13):c.2870CAC[5] (p.Pro960dup) rs771610606
NM_001099922.3(ALG13):c.2874_2888del (p.Leu961_Pro965del) rs746614953
NM_001099922.3(ALG13):c.2887C>T (p.Pro963Ser) rs771778284
NM_001099922.3(ALG13):c.2888C>T (p.Pro963Leu)
NM_001099922.3(ALG13):c.2912G>A (p.Ser971Asn) rs2148407042
NM_001099922.3(ALG13):c.2983C>A (p.His995Asn) rs1945383559
NM_001099922.3(ALG13):c.298A>G (p.Ile100Val)
NM_001099922.3(ALG13):c.3023AGC[2] (p.Gln1010del) rs770600982
NM_001099922.3(ALG13):c.3035A>C (p.His1012Pro)
NM_001099922.3(ALG13):c.3037G>A (p.Val1013Ile)
NM_001099922.3(ALG13):c.3067C>T (p.Pro1023Ser) rs2148514193
NM_001099922.3(ALG13):c.3088C>A (p.Pro1030Thr) rs1156871693
NM_001099922.3(ALG13):c.3095G>A (p.Cys1032Tyr)
NM_001099922.3(ALG13):c.3105G>T (p.Glu1035Asp)
NM_001099922.3(ALG13):c.3108GAG[1] (p.Arg1038del)
NM_001099922.3(ALG13):c.3117A>T (p.Glu1039Asp) rs2148514625
NM_001099922.3(ALG13):c.3119A>G (p.Asp1040Gly) rs2148514658
NM_001099922.3(ALG13):c.3124A>G (p.Ile1042Val) rs2148514763
NM_001099922.3(ALG13):c.312G>C (p.Leu104Phe)
NM_001099922.3(ALG13):c.3131C>T (p.Ala1044Val)
NM_001099922.3(ALG13):c.3146A>G (p.Asn1049Ser)
NM_001099922.3(ALG13):c.314T>C (p.Met105Thr)
NM_001099922.3(ALG13):c.3158C>T (p.Pro1053Leu)
NM_001099922.3(ALG13):c.3181C>T (p.Pro1061Ser) rs1945590685
NM_001099922.3(ALG13):c.3182C>T (p.Pro1061Leu)
NM_001099922.3(ALG13):c.3184C>T (p.His1062Tyr) rs750471213
NM_001099922.3(ALG13):c.3205G>A (p.Val1069Ile) rs2148530841
NM_001099922.3(ALG13):c.3211T>G (p.Ser1071Ala) rs2148530883
NM_001099922.3(ALG13):c.3218C>G (p.Pro1073Arg)
NM_001099922.3(ALG13):c.3251C>A (p.Ser1084Tyr) rs1945595856
NM_001099922.3(ALG13):c.3260C>T (p.Pro1087Leu) rs1945596491
NM_001099922.3(ALG13):c.3281G>A (p.Cys1094Tyr)
NM_001099922.3(ALG13):c.3290C>T (p.Pro1097Leu)
NM_001099922.3(ALG13):c.3301G>T (p.Val1101Phe) rs1370248370
NM_001099922.3(ALG13):c.3347A>G (p.Asn1116Ser) rs1323383971
NM_001099922.3(ALG13):c.3349C>G (p.Pro1117Ala) rs1603004235
NM_001099922.3(ALG13):c.3391C>T (p.His1131Tyr)
NM_001099922.3(ALG13):c.3398T>A (p.Val1133Glu)
NM_001099922.3(ALG13):c.3400C>T (p.Pro1134Ser)
NM_001099922.3(ALG13):c.359G>A (p.Gly120Asp) rs1934591547
NM_001099922.3(ALG13):c.35G>A (p.Ser12Asn) rs2147593382
NM_001099922.3(ALG13):c.361C>T (p.His121Tyr)
NM_001099922.3(ALG13):c.373T>G (p.Cys125Gly) rs1556449735
NM_001099922.3(ALG13):c.377C>A (p.Thr126Asn)
NM_001099922.3(ALG13):c.382A>G (p.Arg128Gly) rs1934600580
NM_001099922.3(ALG13):c.383+2885G>A rs2147754268
NM_001099922.3(ALG13):c.403C>G (p.Gln135Glu) rs1602635058
NM_001099922.3(ALG13):c.410A>G (p.Lys137Arg)
NM_001099922.3(ALG13):c.422C>T (p.Ser141Phe) rs1432301604
NM_001099922.3(ALG13):c.424G>A (p.Ala142Thr) rs1939098208
NM_001099922.3(ALG13):c.430G>A (p.Gly144Arg) rs1452792292
NM_001099922.3(ALG13):c.43G>T (p.Asp15Tyr) rs776133794
NM_001099922.3(ALG13):c.452C>T (p.Ala151Val) rs1060500008
NM_001099922.3(ALG13):c.461del (p.Thr153_Ser154insTer) rs964823190
NM_001099922.3(ALG13):c.463A>G (p.Thr155Ala)
NM_001099922.3(ALG13):c.463del (p.Thr155fs)
NM_001099922.3(ALG13):c.476_481del (p.Gly159_Leu160del) rs750251838
NM_001099922.3(ALG13):c.497C>G (p.Ser166Cys) rs2147996812
NM_001099922.3(ALG13):c.518C>G (p.Ala173Gly)
NM_001099922.3(ALG13):c.518C>T (p.Ala173Val) rs188589829
NM_001099922.3(ALG13):c.527C>T (p.Thr176Ile)
NM_001099922.3(ALG13):c.52_54dup (p.Ala18dup) rs1933041651
NM_001099922.3(ALG13):c.539C>T (p.Pro180Leu)
NM_001099922.3(ALG13):c.541A>T (p.Thr181Ser) rs774646647
NM_001099922.3(ALG13):c.563C>G (p.Ser188Cys) rs772044321
NM_001099922.3(ALG13):c.568C>T (p.His190Tyr) rs1939123103
NM_001099922.3(ALG13):c.592A>G (p.Thr198Ala)
NM_001099922.3(ALG13):c.593C>T (p.Thr198Ile)
NM_001099922.3(ALG13):c.597del (p.Thr200fs) rs2147998012
NM_001099922.3(ALG13):c.598A>G (p.Thr200Ala)
NM_001099922.3(ALG13):c.598_602del (p.Thr200fs) rs1939127665
NM_001099922.3(ALG13):c.628A>C (p.Asn210His)
NM_001099922.3(ALG13):c.62C>G (p.Ser21Trp)
NM_001099922.3(ALG13):c.62C>T (p.Ser21Leu) rs1602457991
NM_001099922.3(ALG13):c.632A>G (p.Tyr211Cys) rs1556483387
NM_001099922.3(ALG13):c.649T>G (p.Leu217Val) rs2147998654
NM_001099922.3(ALG13):c.64G>A (p.Ala22Thr) rs1933048489
NM_001099922.3(ALG13):c.654T>G (p.Asn218Lys)
NM_001099922.3(ALG13):c.65C>A (p.Ala22Glu)
NM_001099922.3(ALG13):c.662C>T (p.Ser221Leu) rs1602636547
NM_001099922.3(ALG13):c.664A>G (p.Met222Val) rs766905095
NM_001099922.3(ALG13):c.683G>T (p.Ser228Ile) rs1186351490
NM_001099922.3(ALG13):c.716A>G (p.Asp239Gly) rs1939143318
NM_001099922.3(ALG13):c.74G>A (p.Ser25Asn) rs1057522540
NM_001099922.3(ALG13):c.750+6del
NM_001099922.3(ALG13):c.751T>C (p.Leu251=)
NM_001099922.3(ALG13):c.766G>T (p.Val256Phe)
NM_001099922.3(ALG13):c.770A>G (p.His257Arg)
NM_001099922.3(ALG13):c.805A>G (p.Met269Val)
NM_001099922.3(ALG13):c.812A>G (p.Glu271Gly)
NM_001099922.3(ALG13):c.818A>C (p.Gln273Pro)
NM_001099922.3(ALG13):c.834T>A (p.Ser278=)
NM_001099922.3(ALG13):c.84A>G (p.Lys28=)
NM_001099922.3(ALG13):c.852T>G (p.Phe284Leu)
NM_001099922.3(ALG13):c.858A>C (p.Lys286Asn) rs1939806996
NM_001099922.3(ALG13):c.862C>G (p.Leu288Val)
NM_001099922.3(ALG13):c.869G>A (p.Arg290Gln) rs1939809151
NM_001099922.3(ALG13):c.887A>G (p.Glu296Gly) rs2148043587
NM_001099922.3(ALG13):c.889A>T (p.Ser297Cys) rs372176416
NM_001099922.3(ALG13):c.88G>C (p.Glu30Gln) rs1933583293
NM_001099922.3(ALG13):c.890G>A (p.Ser297Asn) rs1939938682
NM_001099922.3(ALG13):c.89A>C (p.Glu30Ala)
NM_001099922.3(ALG13):c.923T>C (p.Leu308Pro)
NM_001099922.3(ALG13):c.92G>A (p.Ser31Asn)
NM_001099922.3(ALG13):c.933-3T>C
NM_001099922.3(ALG13):c.935G>T (p.Arg312Leu) rs1455053208
NM_001099922.3(ALG13):c.942C>G (p.Phe314Leu)
NM_001099922.3(ALG13):c.950A>T (p.Tyr317Phe)
NM_001099922.3(ALG13):c.952C>T (p.Arg318Cys) rs775191661
NM_001099922.3(ALG13):c.953G>A (p.Arg318His)
NM_001099922.3(ALG13):c.977A>G (p.Tyr326Cys) rs1940090808
NM_001367916.1(MAGT1):c.297C>G (p.Ile99Met)
NM_001367916.1(MAGT1):c.752C>T (p.Thr251Met)
NM_001382.4(DPAGT1):c.*369A>G rs886047759
NM_001382.4(DPAGT1):c.*379G>T rs886047758
NM_001382.4(DPAGT1):c.*484T>C rs886047757
NM_001382.4(DPAGT1):c.-76G>T rs1946515312
NM_001382.4(DPAGT1):c.1004A>C (p.Lys335Thr) rs1946418638
NM_001382.4(DPAGT1):c.1005+5C>T
NM_001382.4(DPAGT1):c.1005+6A>T rs1592225596
NM_001382.4(DPAGT1):c.1007T>C (p.Val336Ala) rs1555207196
NM_001382.4(DPAGT1):c.1033G>A (p.Val345Ile)
NM_001382.4(DPAGT1):c.103C>T (p.His35Tyr)
NM_001382.4(DPAGT1):c.1051G>A (p.Glu351Lys) rs1475939080
NM_001382.4(DPAGT1):c.1099C>G (p.Leu367Val) rs980077282
NM_001382.4(DPAGT1):c.1117C>T (p.Pro373Ser) rs1210999092
NM_001382.4(DPAGT1):c.1142T>C (p.Leu381Ser) rs2134897889
NM_001382.4(DPAGT1):c.1161+5G>A rs1946410970
NM_001382.4(DPAGT1):c.1162A>C (p.Ile388Leu) rs2134897349
NM_001382.4(DPAGT1):c.1180A>C (p.Thr394Pro) rs2134897273
NM_001382.4(DPAGT1):c.1200G>T (p.Gln400His)
NM_001382.4(DPAGT1):c.1207C>T (p.Arg403Ter)
NM_001382.4(DPAGT1):c.1208G>A (p.Arg403Gln)
NM_001382.4(DPAGT1):c.1219G>A (p.Asp407Asn) rs2134897091
NM_001382.4(DPAGT1):c.121C>A (p.Leu41Ile)
NM_001382.4(DPAGT1):c.121C>G (p.Leu41Val)
NM_001382.4(DPAGT1):c.128G>T (p.Gly43Val) rs1946507643
NM_001382.4(DPAGT1):c.14C>G (p.Ser5Trp)
NM_001382.4(DPAGT1):c.163C>G (p.Pro55Ala)
NM_001382.4(DPAGT1):c.170C>T (p.Ser57Phe)
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001382.4(DPAGT1):c.215G>A (p.Cys72Tyr) rs1274896616
NM_001382.4(DPAGT1):c.253G>A (p.Glu85Lys) rs781224323
NM_001382.4(DPAGT1):c.274C>G (p.His92Asp)
NM_001382.4(DPAGT1):c.283-17G>A
NM_001382.4(DPAGT1):c.283-3C>A
NM_001382.4(DPAGT1):c.285T>C (p.Phe95=)
NM_001382.4(DPAGT1):c.286G>T (p.Val96Leu)
NM_001382.4(DPAGT1):c.335G>T (p.Gly112Val) rs1946489072
NM_001382.4(DPAGT1):c.352C>G (p.Leu118Val) rs398123609
NM_001382.4(DPAGT1):c.400C>G (p.Leu134Val) rs1946487222
NM_001382.4(DPAGT1):c.404C>T (p.Pro135Leu) rs2134913441
NM_001382.4(DPAGT1):c.406C>A (p.Leu136Ile) rs1946487020
NM_001382.4(DPAGT1):c.41A>G (p.Asn14Ser) rs373044813
NM_001382.4(DPAGT1):c.423C>G (p.Phe141Leu) rs1403883479
NM_001382.4(DPAGT1):c.425C>G (p.Thr142Ser)
NM_001382.4(DPAGT1):c.428A>G (p.Asn143Ser)
NM_001382.4(DPAGT1):c.448G>A (p.Val150Met) rs1555207796
NM_001382.4(DPAGT1):c.452T>A (p.Val151Glu)
NM_001382.4(DPAGT1):c.457A>C (p.Lys153Gln) rs1946485389
NM_001382.4(DPAGT1):c.463T>G (p.Phe155Val) rs766131005
NM_001382.4(DPAGT1):c.466C>A (p.Arg156Ser)
NM_001382.4(DPAGT1):c.574G>A (p.Gly192Ser) rs768464558
NM_001382.4(DPAGT1):c.575G>T (p.Gly192Val) rs2134911057
NM_001382.4(DPAGT1):c.592T>A (p.Ser198Thr)
NM_001382.4(DPAGT1):c.660T>G (p.Asp220Glu) rs1386440899
NM_001382.4(DPAGT1):c.681C>G (p.Phe227Leu)
NM_001382.4(DPAGT1):c.691T>C (p.Phe231Leu)
NM_001382.4(DPAGT1):c.695T>C (p.Phe232Ser) rs1221039307
NM_001382.4(DPAGT1):c.700A>G (p.Thr234Ala) rs2134903441
NM_001382.4(DPAGT1):c.710G>C (p.Gly237Ala)
NM_001382.4(DPAGT1):c.715C>T (p.Leu239Phe) rs765676413
NM_001382.4(DPAGT1):c.731A>G (p.Tyr244Cys)
NM_001382.4(DPAGT1):c.750G>A (p.Val250=) rs2134901634
NM_001382.4(DPAGT1):c.76G>A (p.Val26Ile)
NM_001382.4(DPAGT1):c.773C>A (p.Ala258Asp) rs780944148
NM_001382.4(DPAGT1):c.77T>C (p.Val26Ala)
NM_001382.4(DPAGT1):c.850T>C (p.Phe284Leu)
NM_001382.4(DPAGT1):c.859C>T (p.Leu287Phe) rs1946426502
NM_001382.4(DPAGT1):c.88C>T (p.Pro30Ser) rs1393162163
NM_001382.4(DPAGT1):c.908G>A (p.Arg303His) rs771322037
NM_001382.4(DPAGT1):c.908G>T (p.Arg303Leu)
NM_001382.4(DPAGT1):c.918-10C>A rs764154648
NM_001382.4(DPAGT1):c.944A>G (p.Glu315Gly) rs1946419999
NM_001382.4(DPAGT1):c.976C>G (p.Leu326Val) rs755527720
NM_002435.3(MPI):c.*103T>C rs2064845890
NM_002435.3(MPI):c.*129G>C rs80226376
NM_002435.3(MPI):c.*176G>A rs886051484
NM_002435.3(MPI):c.*203G>A rs562995056
NM_002435.3(MPI):c.*205G>T rs2064847544
NM_002435.3(MPI):c.*393G>A rs886051485
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1032C>G (p.Asp344Glu) rs2064831979
NM_002435.3(MPI):c.1053+6_1053+9del rs1279545559
NM_002435.3(MPI):c.1054-34_1054-11del rs1555479532
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.1061G>A (p.Gly354Asp)
NM_002435.3(MPI):c.1069A>G (p.Thr357Ala) rs2064840019
NM_002435.3(MPI):c.1086G>A (p.Leu362=) rs905233208
NM_002435.3(MPI):c.1096T>C (p.Ser366Pro) rs1555479551
NM_002435.3(MPI):c.1157C>T (p.Thr386Ile) rs2141209748
NM_002435.3(MPI):c.1207A>T (p.Ser403Cys)
NM_002435.3(MPI):c.1212C>T (p.Val404=) rs2064843052
NM_002435.3(MPI):c.124G>C (p.Glu42Gln)
NM_002435.3(MPI):c.1260C>A (p.Cys420Ter) rs1555479632
NM_002435.3(MPI):c.140C>G (p.Ala47Gly)
NM_002435.3(MPI):c.170G>T (p.Gly57Val)
NM_002435.3(MPI):c.183_184delinsAA (p.Leu62Ile)
NM_002435.3(MPI):c.194G>A (p.Arg65His)
NM_002435.3(MPI):c.238G>A (p.Asp80Asn) rs1444877183
NM_002435.3(MPI):c.33T>G (p.Cys11Trp) rs2064708840
NM_002435.3(MPI):c.362T>C (p.Leu121Pro)
NM_002435.3(MPI):c.445T>C (p.Cys149Arg) rs2064746068
NM_002435.3(MPI):c.455G>C (p.Arg152Pro) rs766458792
NM_002435.3(MPI):c.45G>C (p.Gln15His) rs371649838
NM_002435.3(MPI):c.527C>T (p.Ala176Val) rs1256364766
NM_002435.3(MPI):c.530C>T (p.Thr177Ile)
NM_002435.3(MPI):c.533A>C (p.His178Pro) rs2141200350
NM_002435.3(MPI):c.587G>A (p.Ser196Asn)
NM_002435.3(MPI):c.602T>C (p.Leu201Pro) rs2064752971
NM_002435.3(MPI):c.661T>A (p.Ser221Thr)
NM_002435.3(MPI):c.670+3G>A
NM_002435.3(MPI):c.670+9A>T rs7495739
NM_002435.3(MPI):c.672G>C (p.Ala224=) rs768186349
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002435.3(MPI):c.695A>G (p.Asp232Gly) rs765912695
NM_002435.3(MPI):c.781A>G (p.Thr261Ala) rs2064816825
NM_002435.3(MPI):c.793G>A (p.Gly265Arg) rs2064817105
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002435.3(MPI):c.843_844+1del
NM_002435.3(MPI):c.845-10G>C rs748693066
NM_002435.3(MPI):c.845-9T>C
NM_002435.3(MPI):c.914T>A (p.Val305Glu)
NM_002435.3(MPI):c.920C>G (p.Thr307Ser)
NM_002435.3(MPI):c.952_957del (p.Ser318_Ser319del) rs1555479384
NM_002435.3(MPI):c.95C>T (p.Ala32Val) rs1596440893
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002435.3(MPI):c.995A>T (p.Asp332Val)
NM_002633.3(PGM1):c.*231C>T rs886046483
NM_002633.3(PGM1):c.*388T>G rs1650077445
NM_002633.3(PGM1):c.*484G>A rs755055776
NM_002633.3(PGM1):c.*484G>C rs755055776
NM_002633.3(PGM1):c.1014T>A (p.Ser338Arg) rs1553121290
NM_002633.3(PGM1):c.1019C>G (p.Ala340Gly)
NM_002633.3(PGM1):c.1029-8C>G rs752232600
NM_002633.3(PGM1):c.1058A>G (p.Tyr353Cys)
NM_002633.3(PGM1):c.1065C>A (p.Thr355=) rs773677629
NM_002633.3(PGM1):c.1067C>T (p.Pro356Leu)
NM_002633.3(PGM1):c.107C>A (p.Ala36Glu) rs146477640
NM_002633.3(PGM1):c.107C>T (p.Ala36Val)
NM_002633.3(PGM1):c.1081T>A (p.Phe361Ile)
NM_002633.3(PGM1):c.1083T>C (p.Phe361=)
NM_002633.3(PGM1):c.1106G>A (p.Ser369Asn)
NM_002633.3(PGM1):c.1115C>T (p.Ser372Phe)
NM_002633.3(PGM1):c.1138G>A (p.Gly380Arg)
NM_002633.3(PGM1):c.1141A>G (p.Thr381Ala)
NM_002633.3(PGM1):c.1144G>A (p.Gly382Ser)
NM_002633.3(PGM1):c.119T>C (p.Ile40Thr)
NM_002633.3(PGM1):c.1201A>G (p.Ile401Val) rs760318393
NM_002633.3(PGM1):c.1204C>G (p.Leu402Val)
NM_002633.3(PGM1):c.120C>G (p.Ile40Met)
NM_002633.3(PGM1):c.1213C>A (p.Arg405Ser) rs754131603
NM_002633.3(PGM1):c.1234A>C (p.Ile412Leu) rs567337429
NM_002633.3(PGM1):c.125G>A (p.Ser42Asn) rs374207269
NM_002633.3(PGM1):c.1291G>A (p.Glu431Lys)
NM_002633.3(PGM1):c.1312G>A (p.Ala438Thr)
NM_002633.3(PGM1):c.134C>T (p.Ser45Phe)
NM_002633.3(PGM1):c.1358C>G (p.Ser453Cys)
NM_002633.3(PGM1):c.1394T>A (p.Val465Asp)
NM_002633.3(PGM1):c.1411G>A (p.Ala471Thr) rs148979330
NM_002633.3(PGM1):c.1464+14_1464+15delinsTA
NM_002633.3(PGM1):c.1464+19G>C
NM_002633.3(PGM1):c.1523G>A (p.Gly508Glu)
NM_002633.3(PGM1):c.152A>G (p.Gln51Arg)
NM_002633.3(PGM1):c.1538C>T (p.Thr513Ile)
NM_002633.3(PGM1):c.1540A>G (p.Ile514Val) rs1649904020
NM_002633.3(PGM1):c.1555G>A (p.Asp519Asn)
NM_002633.3(PGM1):c.155G>A (p.Arg52Gln) rs377179134
NM_002633.3(PGM1):c.1573G>A (p.Val525Ile)
NM_002633.3(PGM1):c.1585A>T (p.Asn529Tyr)
NM_002633.3(PGM1):c.1599+5C>T
NM_002633.3(PGM1):c.1599+6G>A
NM_002633.3(PGM1):c.1599+6G>T
NM_002633.3(PGM1):c.1600-523G>A
NM_002633.3(PGM1):c.1664G>A (p.Arg555His)
NM_002633.3(PGM1):c.1678G>A (p.Val560Ile) rs1650066188
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002633.3(PGM1):c.199A>G (p.Met67Val) rs561236041
NM_002633.3(PGM1):c.203A>T (p.Lys68Met)
NM_002633.3(PGM1):c.216G>C (p.Gln72His) rs1280037054
NM_002633.3(PGM1):c.244G>T (p.Gly82Trp) rs199928376
NM_002633.3(PGM1):c.246+20_246+21delinsAA
NM_002633.3(PGM1):c.246G>A (p.Gly82=)
NM_002633.3(PGM1):c.247-5C>T rs1649127861
NM_002633.3(PGM1):c.24G>T (p.Lys8Asn)
NM_002633.3(PGM1):c.265_266delinsTT (p.Gly89Leu)
NM_002633.3(PGM1):c.322G>A (p.Ala108Thr) rs1356647959
NM_002633.3(PGM1):c.326T>C (p.Ile109Thr)
NM_002633.3(PGM1):c.38A>C (p.Gln13Pro)
NM_002633.3(PGM1):c.409+6T>C rs2100982034
NM_002633.3(PGM1):c.460A>G (p.Ile154Val)
NM_002633.3(PGM1):c.463G>A (p.Glu155Lys)
NM_002633.3(PGM1):c.512G>A (p.Gly171Glu)
NM_002633.3(PGM1):c.556+3A>G
NM_002633.3(PGM1):c.574G>A (p.Val192Ile)
NM_002633.3(PGM1):c.5T>G (p.Val2Gly)
NM_002633.3(PGM1):c.602G>T (p.Ser201Ile)
NM_002633.3(PGM1):c.606C>G (p.Ile202Met)
NM_002633.3(PGM1):c.696T>C (p.Tyr232=) rs886046480
NM_002633.3(PGM1):c.741G>A (p.Ser247=) rs142222746
NM_002633.3(PGM1):c.770T>C (p.Phe257Ser)
NM_002633.3(PGM1):c.794A>G (p.Asn265Ser)
NM_002633.3(PGM1):c.821A>G (p.Glu274Gly)
NM_002633.3(PGM1):c.827T>G (p.Met276Arg) rs1649325171
NM_002633.3(PGM1):c.836G>A (p.Gly279Glu)
NM_002633.3(PGM1):c.838G>C (p.Glu280Gln)
NM_002633.3(PGM1):c.873+5G>T
NM_002633.3(PGM1):c.91A>G (p.Ser31Gly) rs2100947698
NM_002633.3(PGM1):c.929T>C (p.Val310Ala)
NM_002633.3(PGM1):c.973C>A (p.Gln325Lys)
NM_002633.3(PGM1):c.97G>C (p.Ala33Pro)
NM_002633.3(PGM1):c.980G>T (p.Gly327Val)
NM_003859.3(DPM1):c.*117A>G rs920558366
NM_003859.3(DPM1):c.109C>T (p.Arg37Cys) rs369939483
NM_003859.3(DPM1):c.112G>A (p.Glu38Lys) rs767978019
NM_003859.3(DPM1):c.122C>G (p.Pro41Arg) rs2123155224
NM_003859.3(DPM1):c.127A>G (p.Ile43Val) rs769480044
NM_003859.3(DPM1):c.13G>C (p.Glu5Gln)
NM_003859.3(DPM1):c.142G>A (p.Val48Met) rs776470942
NM_003859.3(DPM1):c.152_154del (p.Phe51del)
NM_003859.3(DPM1):c.161+10C>T rs779869066
NM_003859.3(DPM1):c.162-3del rs1568774485
NM_003859.3(DPM1):c.16G>A (p.Val6Ile)
NM_003859.3(DPM1):c.173A>G (p.Tyr58Cys) rs1040795570
NM_003859.3(DPM1):c.173A>T (p.Tyr58Phe) rs1040795570
NM_003859.3(DPM1):c.178A>T (p.Ile60Phe) rs1986768557
NM_003859.3(DPM1):c.182T>C (p.Ile61Thr)
NM_003859.3(DPM1):c.22C>A (p.Arg8Ser)
NM_003859.3(DPM1):c.22C>G (p.Arg8Gly) rs201392536
NM_003859.3(DPM1):c.235G>C (p.Glu79Gln) rs760351795
NM_003859.3(DPM1):c.254A>G (p.Asp85Gly) rs1364834319
NM_003859.3(DPM1):c.259A>G (p.Ile87Val) rs1986763754
NM_003859.3(DPM1):c.25A>G (p.Ser9Gly) rs17850343
NM_003859.3(DPM1):c.28C>A (p.Pro10Thr)
NM_003859.3(DPM1):c.295+6T>C
NM_003859.3(DPM1):c.296-5T>C rs1986258168
NM_003859.3(DPM1):c.29C>G (p.Pro10Arg) rs755912457
NM_003859.3(DPM1):c.326C>T (p.Ala109Val) rs1986256273
NM_003859.3(DPM1):c.337T>A (p.Tyr113Asn) rs2123115865
NM_003859.3(DPM1):c.339CAT[1] (p.Ile116del)
NM_003859.3(DPM1):c.355G>A (p.Ala119Thr) rs2123115788
NM_003859.3(DPM1):c.358G>C (p.Asp120His)
NM_003859.3(DPM1):c.35G>A (p.Arg12Lys) rs559291357
NM_003859.3(DPM1):c.368A>G (p.His123Arg)
NM_003859.3(DPM1):c.382A>G (p.Ile128Val)
NM_003859.3(DPM1):c.385C>T (p.Pro129Ser) rs752831768
NM_003859.3(DPM1):c.38C>G (p.Ser13Cys)
NM_003859.3(DPM1):c.397A>C (p.Arg133=)
NM_003859.3(DPM1):c.406A>G (p.Lys136Glu)
NM_003859.3(DPM1):c.409G>A (p.Glu137Lys)
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys) rs1225648834
NM_003859.3(DPM1):c.440G>A (p.Arg147His)
NM_003859.3(DPM1):c.448G>A (p.Gly150Arg)
NM_003859.3(DPM1):c.460G>A (p.Val154Ile)
NM_003859.3(DPM1):c.46G>A (p.Glu16Lys)
NM_003859.3(DPM1):c.473A>C (p.Asp158Ala) rs77532041
NM_003859.3(DPM1):c.477G>T (p.Leu159Phe)
NM_003859.3(DPM1):c.494+9A>G
NM_003859.3(DPM1):c.496C>T (p.Arg166Cys) rs547949792
NM_003859.3(DPM1):c.515C>G (p.Thr172Ser) rs1985671191
NM_003859.3(DPM1):c.521T>G (p.Ile174Ser)
NM_003859.3(DPM1):c.572G>A (p.Arg191Gln)
NM_003859.3(DPM1):c.579A>C (p.Glu193Asp) rs1601016907
NM_003859.3(DPM1):c.590A>C (p.Lys197Thr)
NM_003859.3(DPM1):c.605G>A (p.Cys202Tyr) rs528582693
NM_003859.3(DPM1):c.617G>C (p.Gly206Ala)
NM_003859.3(DPM1):c.617G>T (p.Gly206Val) rs760063295
NM_003859.3(DPM1):c.620A>G (p.Tyr207Cys) rs1036628226
NM_003859.3(DPM1):c.62G>A (p.Ser21Asn)
NM_003859.3(DPM1):c.632T>C (p.Met211Thr)
NM_003859.3(DPM1):c.641T>C (p.Ile214Thr) rs1439856985
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) rs1197456861
NM_003859.3(DPM1):c.656A>G (p.Gln219Arg) rs2123061416
NM_003859.3(DPM1):c.671T>A (p.Ile224Asn) rs2123061350
NM_003859.3(DPM1):c.678+15C>G rs2123061176
NM_003859.3(DPM1):c.678+1G>C rs1985138848
NM_003859.3(DPM1):c.678+6C>A
NM_003859.3(DPM1):c.67C>G (p.Arg23Gly)
NM_003859.3(DPM1):c.688T>G (p.Ser230Ala) rs1985042327
NM_003859.3(DPM1):c.692T>C (p.Phe231Ser) rs2123056867
NM_003859.3(DPM1):c.698A>G (p.Asp233Gly) rs1411036424
NM_003859.3(DPM1):c.706T>C (p.Tyr236His) rs775589720
NM_003859.3(DPM1):c.70C>G (p.Gln24Glu)
NM_003859.3(DPM1):c.71A>G (p.Gln24Arg) rs1986960670
NM_003859.3(DPM1):c.84G>A (p.Ser28=) rs16995639
NM_003859.3(DPM1):c.94C>T (p.Pro32Ser)
NM_003863.3(DPM2):c.-267T>C rs1831540551
NM_003863.3(DPM2):c.-319G>A rs886063486
NM_003863.3(DPM2):c.-84G>A rs1831537719
NM_003863.4(DPM2):c.*124G>C rs1831491179
NM_003863.4(DPM2):c.*231C>T rs1831489245
NM_003863.4(DPM2):c.*404C>T rs1245531633
NM_003863.4(DPM2):c.*49G>T rs886063481
NM_003863.4(DPM2):c.*510A>G rs1831485679
NM_003863.4(DPM2):c.100A>G (p.Ile34Val)
NM_003863.4(DPM2):c.108_111del (p.Gln37fs) rs756881158
NM_003863.4(DPM2):c.151G>A (p.Val51Ile) rs1831509385
NM_003863.4(DPM2):c.166_167delinsTT (p.Ala56Phe) rs2131648142
NM_003863.4(DPM2):c.16G>A (p.Asp6Asn) rs1564141716
NM_003863.4(DPM2):c.208T>C (p.Ser70Pro) rs759597928
NM_003863.4(DPM2):c.212A>G (p.Tyr71Cys)
NM_003863.4(DPM2):c.212_213delinsGC (p.Tyr71Cys) rs1588689182
NM_003863.4(DPM2):c.213_214inv (p.Val72Met)
NM_003863.4(DPM2):c.229A>G (p.Lys77Glu) rs1831494309
NM_003863.4(DPM2):c.3+3G>A rs1403906360
NM_003863.4(DPM2):c.3+3G>T rs1403906360
NM_003863.4(DPM2):c.35G>A (p.Gly12Asp) rs1224529806
NM_003863.4(DPM2):c.37del (p.Leu13fs) rs1349389319
NM_003863.4(DPM2):c.65C>T (p.Thr22Ile)
NM_003863.4(DPM2):c.88C>G (p.Leu30Val) rs886063483
NM_003863.4(DPM2):c.8C>T (p.Thr3Met)
NM_003863.4(DPM2):c.93+5G>A
NM_004341.5(CAD):c.1100G>A (p.Gly367Asp) rs766915720
NM_004341.5(CAD):c.1331A>G (p.Gln444Arg)
NM_004341.5(CAD):c.208T>C (p.Phe70Leu) rs1674954573
NM_004341.5(CAD):c.223-2A>G rs1675149924
NM_004341.5(CAD):c.2401-5A>G rs759687469
NM_004341.5(CAD):c.3512C>A (p.Pro1171Gln) rs770280820
NM_004341.5(CAD):c.4231A>G (p.Lys1411Glu)
NM_004341.5(CAD):c.4669C>G (p.Leu1557Val) rs199990394
NM_004341.5(CAD):c.5104C>T (p.Pro1702Ser) rs529298259
NM_004341.5(CAD):c.5318C>G (p.Pro1773Arg)
NM_004341.5(CAD):c.610C>T (p.Pro204Ser)
NM_004341.5(CAD):c.6329G>T (p.Arg2110Leu) rs759380014
NM_004341.5(CAD):c.6436C>G (p.Arg2146Gly)
NM_004870.4(MPDU1):c.*27C>T rs374857107
NM_004870.4(MPDU1):c.137T>C (p.Leu46Pro) rs1452719895
NM_004870.4(MPDU1):c.170-1G>A
NM_004870.4(MPDU1):c.189T>G (p.Phe63Leu) rs750579485
NM_004870.4(MPDU1):c.337A>T (p.Thr113Ser)
NM_004870.4(MPDU1):c.403G>A (p.Ala135Thr) rs137983973
NM_004870.4(MPDU1):c.410A>G (p.Tyr137Cys)
NM_004870.4(MPDU1):c.477del (p.Ser160fs) rs765585873
NM_004870.4(MPDU1):c.508-9C>T rs867359652
NM_004870.4(MPDU1):c.53T>C (p.Leu18Ser) rs2071537142
NM_004870.4(MPDU1):c.573C>A (p.Phe191Leu) rs2071599921
NM_004870.4(MPDU1):c.589T>C (p.Ser197Pro)
NM_004870.4(MPDU1):c.631C>G (p.Pro211Ala) rs2150936424
NM_004870.4(MPDU1):c.66C>G (p.Cys22Trp) rs1388629959
NM_004870.4(MPDU1):c.729G>C (p.Gln243His) rs144333176
NM_004870.4(MPDU1):c.740A>T (p.Gln247Leu)
NM_005216.4(DDOST):c.206_211delACCGGG rs769669810
NM_005216.4(DDOST):c.32C>G (p.Ser11Cys) rs140102515
NM_005216.4(DDOST):c.32C>T (p.Ser11Phe) rs140102515
NM_005216.5(DDOST):c.-18T>G rs1196325942
NM_005216.5(DDOST):c.-5G>A
NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)
NM_005216.5(DDOST):c.1053GAA[2] (p.Lys354del) rs776647294
NM_005216.5(DDOST):c.1064-2A>C
NM_005216.5(DDOST):c.1151A>G (p.His384Arg)
NM_005216.5(DDOST):c.1177G>A (p.Val393Met)
NM_005216.5(DDOST):c.1210T>C (p.Phe404Leu)
NM_005216.5(DDOST):c.1220C>T (p.Ser407Leu)
NM_005216.5(DDOST):c.1226A>G (p.Tyr409Cys)
NM_005216.5(DDOST):c.1243G>A (p.Ala415Thr)
NM_005216.5(DDOST):c.1284CTT[1] (p.Phe429del)
NM_005216.5(DDOST):c.1287C>A (p.Phe429Leu)
NM_005216.5(DDOST):c.154+5G>A
NM_005216.5(DDOST):c.167A>G (p.Glu56Gly) rs2154534449
NM_005216.5(DDOST):c.173C>T (p.Thr58Ile)
NM_005216.5(DDOST):c.237T>A (p.Asn79Lys)
NM_005216.5(DDOST):c.254C>T (p.Pro85Leu)
NM_005216.5(DDOST):c.278A>G (p.Asn93Ser)
NM_005216.5(DDOST):c.280A>T (p.Ile94Phe)
NM_005216.5(DDOST):c.287T>C (p.Val96Ala)
NM_005216.5(DDOST):c.308T>C (p.Ile103Thr)
NM_005216.5(DDOST):c.331G>A (p.Val111Ile)
NM_005216.5(DDOST):c.352+2T>C
NM_005216.5(DDOST):c.382T>G (p.Cys128Gly)
NM_005216.5(DDOST):c.419T>C (p.Ile140Thr)
NM_005216.5(DDOST):c.427C>G (p.His143Asp) rs2154534284
NM_005216.5(DDOST):c.456+4A>G
NM_005216.5(DDOST):c.532A>G (p.Ile178Val)
NM_005216.5(DDOST):c.579G>A (p.Leu193=)
NM_005216.5(DDOST):c.583C>G (p.Leu195Val)
NM_005216.5(DDOST):c.626C>T (p.Pro209Leu)
NM_005216.5(DDOST):c.632A>T (p.Lys211Met)
NM_005216.5(DDOST):c.635C>T (p.Pro212Leu)
NM_005216.5(DDOST):c.656C>T (p.Ala219Val)
NM_005216.5(DDOST):c.687_688delinsAA (p.Leu230Ile)
NM_005216.5(DDOST):c.68T>G (p.Val23Gly)
NM_005216.5(DDOST):c.694G>T (p.Ala232Ser)
NM_005216.5(DDOST):c.6G>T (p.Glu2Asp)
NM_005216.5(DDOST):c.728C>T (p.Ser243Phe) rs2053339801
NM_005216.5(DDOST):c.751TTC[1] (p.Phe252del) rs751872569
NM_005216.5(DDOST):c.782C>T (p.Pro261Leu) rs2154534235
NM_005216.5(DDOST):c.795-3C>G
NM_005216.5(DDOST):c.795G>A (p.Arg265=)
NM_005216.5(DDOST):c.826G>A (p.Val276Met)
NM_005216.5(DDOST):c.82C>T (p.Pro28Ser)
NM_005216.5(DDOST):c.838C>T (p.Arg280Cys)
NM_005216.5(DDOST):c.839G>A (p.Arg280His)
NM_005216.5(DDOST):c.83C>T (p.Pro28Leu)
NM_005216.5(DDOST):c.846del (p.Phe283fs)
NM_005216.5(DDOST):c.851AGG[2] (p.Glu286del) rs1557571295
NM_005216.5(DDOST):c.868C>T (p.Arg290Cys)
NM_005216.5(DDOST):c.869G>T (p.Arg290Leu) rs367807479
NM_005216.5(DDOST):c.884C>T (p.Ser295Phe)
NM_005216.5(DDOST):c.897G>A (p.Val299=)
NM_005216.5(DDOST):c.900C>T (p.Gly300=)
NM_005216.5(DDOST):c.908C>T (p.Ala303Val)
NM_005787.6(ALG3):c.*108T>C rs1577100095
NM_005787.6(ALG3):c.1014C>A (p.Ile338=)
NM_005787.6(ALG3):c.101T>C (p.Leu34Pro)
NM_005787.6(ALG3):c.1077G>A (p.Gln359=) rs534288406
NM_005787.6(ALG3):c.1083C>T (p.Tyr361=)
NM_005787.6(ALG3):c.1132C>T (p.Arg378Cys)
NM_005787.6(ALG3):c.1146C>T (p.His382=) rs370304622
NM_005787.6(ALG3):c.1156T>C (p.Leu386=) rs761215928
NM_005787.6(ALG3):c.1188G>A (p.Trp396Ter)
NM_005787.6(ALG3):c.1188dup (p.Asn397fs)
NM_005787.6(ALG3):c.11G>T (p.Gly4Val)
NM_005787.6(ALG3):c.1212C>G (p.Cys404Trp)
NM_005787.6(ALG3):c.16C>T (p.Arg6Trp) rs199587005
NM_005787.6(ALG3):c.296+5G>A rs1719108178
NM_005787.6(ALG3):c.304G>T (p.Ala102Ser) rs1719101179
NM_005787.6(ALG3):c.347G>C (p.Ser116Thr)
NM_005787.6(ALG3):c.347G>T (p.Ser116Ile) rs562487441
NM_005787.6(ALG3):c.34G>C (p.Gly12Arg)
NM_005787.6(ALG3):c.364C>T (p.Arg122Cys)
NM_005787.6(ALG3):c.457G>A (p.Val153Ile)
NM_005787.6(ALG3):c.503T>C (p.Phe168Ser)
NM_005787.6(ALG3):c.50C>T (p.Ala17Val)
NM_005787.6(ALG3):c.53A>G (p.Glu18Gly)
NM_005787.6(ALG3):c.544C>T (p.Leu182Phe) rs1719066241
NM_005787.6(ALG3):c.545T>C (p.Leu182Pro) rs747561539
NM_005787.6(ALG3):c.550C>T (p.Leu184Phe) rs1171334770
NM_005787.6(ALG3):c.58C>T (p.Leu20Phe)
NM_005787.6(ALG3):c.61T>G (p.Cys21Gly)
NM_005787.6(ALG3):c.626T>C (p.Met209Thr) rs1553828467
NM_005787.6(ALG3):c.62G>T (p.Cys21Phe)
NM_005787.6(ALG3):c.685C>T (p.Arg229Cys)
NM_005787.6(ALG3):c.749T>A (p.Leu250Gln) rs2108440795
NM_005787.6(ALG3):c.763A>C (p.Ser255Arg) rs1718985510
NM_005787.6(ALG3):c.799C>A (p.Gln267Lys) rs528154210
NM_005787.6(ALG3):c.79C>G (p.Arg27Gly)
NM_005787.6(ALG3):c.812A>G (p.His271Arg) rs2108440706
NM_005787.6(ALG3):c.82G>C (p.Ala28Pro) rs750342592
NM_005787.6(ALG3):c.846G>A (p.Ala282=) rs370912574
NM_005787.6(ALG3):c.890A>G (p.His297Arg)
NM_005787.6(ALG3):c.929A>G (p.His310Arg) rs2108440580
NM_005787.6(ALG3):c.944G>A (p.Ser315Asn)
NM_005787.6(ALG3):c.985C>G (p.Pro329Ala) rs751758378
NM_005787.6(ALG3):c.985C>T (p.Pro329Ser) rs751758378
NM_006280.3(SSR4):c.417+1G>A rs1057518735
NM_006280.3(SSR4):c.429C>A (p.Asn143Lys)
NM_006280.3(SSR4):c.482A>G (p.Tyr161Cys)
NM_012463.4(ATP6V0A2):c.1007A>G (p.Gln336Arg)
NM_012463.4(ATP6V0A2):c.1019G>A (p.Arg340Gln)
NM_012463.4(ATP6V0A2):c.1022C>A (p.Ala341Glu) rs1956564188
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=) rs147411055
NM_012463.4(ATP6V0A2):c.1070T>C (p.Met357Thr)
NM_012463.4(ATP6V0A2):c.1079T>C (p.Ile360Thr) rs753742915
NM_012463.4(ATP6V0A2):c.1081C>A (p.Pro361Thr)
NM_012463.4(ATP6V0A2):c.1094C>T (p.Thr365Ile) rs779001204
NM_012463.4(ATP6V0A2):c.1157A>G (p.Tyr386Cys)
NM_012463.4(ATP6V0A2):c.1223T>C (p.Phe408Ser)
NM_012463.4(ATP6V0A2):c.1231A>C (p.Met411Leu)
NM_012463.4(ATP6V0A2):c.1291A>G (p.Asn431Asp)
NM_012463.4(ATP6V0A2):c.1309C>A (p.Leu437Ile)
NM_012463.4(ATP6V0A2):c.1357A>G (p.Ile453Val) rs911881776
NM_012463.4(ATP6V0A2):c.1370T>C (p.Met457Thr)
NM_012463.4(ATP6V0A2):c.1399A>G (p.Ile467Val) rs753076012
NM_012463.4(ATP6V0A2):c.1430A>G (p.Asn477Ser) rs532258057
NM_012463.4(ATP6V0A2):c.1481C>T (p.Pro494Leu)
NM_012463.4(ATP6V0A2):c.1484C>T (p.Pro495Leu)
NM_012463.4(ATP6V0A2):c.1496AGA[1] (p.Lys500del)
NM_012463.4(ATP6V0A2):c.1515_1516inv (p.Asp506Asn)
NM_012463.4(ATP6V0A2):c.1558A>G (p.Ser520Gly)
NM_012463.4(ATP6V0A2):c.1628G>A (p.Arg543His)
NM_012463.4(ATP6V0A2):c.1667T>C (p.Val556Ala)
NM_012463.4(ATP6V0A2):c.1723T>G (p.Leu575Val) rs2135913589
NM_012463.4(ATP6V0A2):c.1780A>G (p.Met594Val)
NM_012463.4(ATP6V0A2):c.17G>A (p.Arg6Gln) rs2135870876
NM_012463.4(ATP6V0A2):c.1843G>A (p.Glu615Lys) rs2135914600
NM_012463.4(ATP6V0A2):c.188G>A (p.Arg63Gln)
NM_012463.4(ATP6V0A2):c.1897T>C (p.Phe633Leu)
NM_012463.4(ATP6V0A2):c.1948A>G (p.Arg650Gly)
NM_012463.4(ATP6V0A2):c.197-16A>G
NM_012463.4(ATP6V0A2):c.1988T>A (p.Leu663His)
NM_012463.4(ATP6V0A2):c.1999A>G (p.Lys667Glu)
NM_012463.4(ATP6V0A2):c.19A>G (p.Ser7Gly)
NM_012463.4(ATP6V0A2):c.2015T>C (p.Leu672Ser)
NM_012463.4(ATP6V0A2):c.2055+4A>C rs2135917390
NM_012463.4(ATP6V0A2):c.2057G>A (p.Ser686Asn)
NM_012463.4(ATP6V0A2):c.205G>A (p.Val69Ile)
NM_012463.4(ATP6V0A2):c.2193A>G (p.Ile731Met)
NM_012463.4(ATP6V0A2):c.2206G>A (p.Val736Ile)
NM_012463.4(ATP6V0A2):c.2255C>T (p.Ser752Phe)
NM_012463.4(ATP6V0A2):c.2329G>A (p.Val777Met)
NM_012463.4(ATP6V0A2):c.2383G>A (p.Ala795Thr)
NM_012463.4(ATP6V0A2):c.2449G>A (p.Ala817Thr)
NM_012463.4(ATP6V0A2):c.2490C>T (p.Tyr830=)
NM_012463.4(ATP6V0A2):c.2491G>A (p.Val831Ile)
NM_012463.4(ATP6V0A2):c.2502C>T (p.Gly834=) rs1451115150
NM_012463.4(ATP6V0A2):c.2509T>C (p.Phe837Leu)
NM_012463.4(ATP6V0A2):c.2531T>G (p.Leu844Arg)
NM_012463.4(ATP6V0A2):c.34C>G (p.Leu12Val) rs1232267114
NM_012463.4(ATP6V0A2):c.370G>A (p.Glu124Lys)
NM_012463.4(ATP6V0A2):c.373C>A (p.Leu125Met)
NM_012463.4(ATP6V0A2):c.382T>C (p.Tyr128His)
NM_012463.4(ATP6V0A2):c.406A>C (p.Lys136Gln)
NM_012463.4(ATP6V0A2):c.409A>G (p.Thr137Ala) rs1319344210
NM_012463.4(ATP6V0A2):c.413T>C (p.Phe138Ser)
NM_012463.4(ATP6V0A2):c.422G>A (p.Arg141His) rs143509747
NM_012463.4(ATP6V0A2):c.426_427inv (p.Val143Ile)
NM_012463.4(ATP6V0A2):c.557A>G (p.Glu186Gly)
NM_012463.4(ATP6V0A2):c.564T>G (p.Phe188Leu)
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln) rs759593402
NM_012463.4(ATP6V0A2):c.668A>G (p.Tyr223Cys)
NM_012463.4(ATP6V0A2):c.679A>G (p.Ile227Val)
NM_012463.4(ATP6V0A2):c.721A>C (p.Ile241Leu)
NM_012463.4(ATP6V0A2):c.728A>G (p.Asp243Gly)
NM_012463.4(ATP6V0A2):c.731+6A>G
NM_012463.4(ATP6V0A2):c.769G>A (p.Glu257Lys)
NM_012463.4(ATP6V0A2):c.805C>T (p.Arg269Cys)
NM_012463.4(ATP6V0A2):c.856C>G (p.Gln286Glu) rs759906846
NM_012463.4(ATP6V0A2):c.883G>A (p.Val295Ile) rs371533517
NM_012463.4(ATP6V0A2):c.893G>A (p.Arg298His)
NM_012463.4(ATP6V0A2):c.962A>G (p.Asn321Ser)
NM_012463.4(ATP6V0A2):c.976G>T (p.Ala326Ser)
NM_013339.4(ALG6):c.*1238A>C rs1644697712
NM_013339.4(ALG6):c.*454C>T rs903370494
NM_013339.4(ALG6):c.*89G>A rs531808380
NM_013339.4(ALG6):c.-208+10T>C rs1333912773
NM_013339.4(ALG6):c.-221C>G rs886046470
NM_013339.4(ALG6):c.100A>C (p.Met34Leu) rs1557585842
NM_013339.4(ALG6):c.100A>G (p.Met34Val)
NM_013339.4(ALG6):c.1031A>G (p.His344Arg)
NM_013339.4(ALG6):c.1033G>C (p.Glu345Gln)
NM_013339.4(ALG6):c.104T>C (p.Phe35Ser)
NM_013339.4(ALG6):c.1051G>A (p.Val351Met)
NM_013339.4(ALG6):c.1051G>T (p.Val351Leu)
NM_013339.4(ALG6):c.1058+6T>C rs1644562441
NM_013339.4(ALG6):c.1060C>T (p.Pro354Ser)
NM_013339.4(ALG6):c.1066T>C (p.Cys356Arg)
NM_013339.4(ALG6):c.1075T>G (p.Leu359Val) rs1260829753
NM_013339.4(ALG6):c.107G>A (p.Gly36Asp)
NM_013339.4(ALG6):c.1087C>A (p.Pro363Thr) rs952006163
NM_013339.4(ALG6):c.1097C>T (p.Ser366Phe)
NM_013339.4(ALG6):c.1111C>T (p.Leu371Phe) rs764449670
NM_013339.4(ALG6):c.1112T>C (p.Leu371Pro) rs1644630271
NM_013339.4(ALG6):c.1121C>T (p.Thr374Ile)
NM_013339.4(ALG6):c.1125T>G (p.Phe375Leu)
NM_013339.4(ALG6):c.1127+4A>G rs2100440455
NM_013339.4(ALG6):c.1127+8A>C rs756307525
NM_013339.4(ALG6):c.1128-3C>T
NM_013339.4(ALG6):c.1178C>A (p.Thr393Lys) rs1644631363
NM_013339.4(ALG6):c.1192T>C (p.Phe398Leu)
NM_013339.4(ALG6):c.1193_1198del (p.Phe398_Ala400delinsSer) rs1553156893
NM_013339.4(ALG6):c.1237GAA[2] (p.Glu415del) rs773295759
NM_013339.4(ALG6):c.1291T>G (p.Cys431Gly)
NM_013339.4(ALG6):c.1303C>A (p.Leu435Ile) rs2100440869
NM_013339.4(ALG6):c.1307C>A (p.Ser436Tyr)
NM_013339.4(ALG6):c.130T>C (p.Trp44Arg) rs2100404960
NM_013339.4(ALG6):c.1310G>T (p.Arg437Ile) rs1318387105
NM_013339.4(ALG6):c.1325T>C (p.Leu442Ser) rs2100440907
NM_013339.4(ALG6):c.1326+2dup
NM_013339.4(ALG6):c.1342A>C (p.Ile448Leu)
NM_013339.4(ALG6):c.1346C>G (p.Thr449Ser) rs552078516
NM_013339.4(ALG6):c.1364TGA[1] (p.Met456del) rs1553157427
NM_013339.4(ALG6):c.1367T>C (p.Met456Thr)
NM_013339.4(ALG6):c.1372_1373del (p.Val458fs)
NM_013339.4(ALG6):c.137A>G (p.Glu46Gly)
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.1394_1398dup (p.Pro467fs) rs1553157429
NM_013339.4(ALG6):c.1402G>C (p.Asp468His) rs1644682187
NM_013339.4(ALG6):c.1414G>A (p.Val472Ile) rs1644682228
NM_013339.4(ALG6):c.1414G>C (p.Val472Leu) rs1644682228
NM_013339.4(ALG6):c.1429G>C (p.Val477Leu) rs747356051
NM_013339.4(ALG6):c.1436G>T (p.Cys479Phe)
NM_013339.4(ALG6):c.1458G>C (p.Leu486Phe)
NM_013339.4(ALG6):c.1469_1474del (p.Asn490_Ile491del) rs1553157450
NM_013339.4(ALG6):c.1473TAT[4] (p.Ile493dup) rs1475726598
NM_013339.4(ALG6):c.1481T>C (p.Met494Thr) rs766169939
NM_013339.4(ALG6):c.1490C>A (p.Ser497Tyr)
NM_013339.4(ALG6):c.1496G>A (p.Ser499Asn)
NM_013339.4(ALG6):c.1501A>G (p.Arg501Gly) rs1644682851
NM_013339.4(ALG6):c.1508A>G (p.Gln503Arg)
NM_013339.4(ALG6):c.151T>A (p.Leu51Ile)
NM_013339.4(ALG6):c.154C>T (p.Pro52Ser)
NM_013339.4(ALG6):c.178A>C (p.Ser60Arg) rs1330438032
NM_013339.4(ALG6):c.178A>G (p.Ser60Gly)
NM_013339.4(ALG6):c.180C>G (p.Ser60Arg)
NM_013339.4(ALG6):c.189_191del (p.Asn64del) rs1553155267
NM_013339.4(ALG6):c.19A>G (p.Met7Val)
NM_013339.4(ALG6):c.20T>C (p.Met7Thr)
NM_013339.4(ALG6):c.218C>T (p.Pro73Leu) rs2100412827
NM_013339.4(ALG6):c.227C>T (p.Thr76Ile) rs773292757
NM_013339.4(ALG6):c.235_237del (p.His79del) rs1297610094
NM_013339.4(ALG6):c.236A>T (p.His79Leu)
NM_013339.4(ALG6):c.23C>G (p.Thr8Arg)
NM_013339.4(ALG6):c.256G>A (p.Val86Met)
NM_013339.4(ALG6):c.258-3C>T
NM_013339.4(ALG6):c.272A>G (p.Asn91Ser) rs2100415389
NM_013339.4(ALG6):c.278A>G (p.Asp93Gly) rs1329673040
NM_013339.4(ALG6):c.282G>T (p.Trp94Cys)
NM_013339.4(ALG6):c.301C>T (p.Arg101Cys)
NM_013339.4(ALG6):c.322C>G (p.His108Asp) rs2100415489
NM_013339.4(ALG6):c.325A>G (p.Lys109Glu) rs1644481094
NM_013339.4(ALG6):c.326A>T (p.Lys109Met)
NM_013339.4(ALG6):c.338G>T (p.Arg113Leu)
NM_013339.4(ALG6):c.346+19G>A
NM_013339.4(ALG6):c.346+5A>G
NM_013339.4(ALG6):c.346+7G>C rs1159085775
NM_013339.4(ALG6):c.390G>T (p.Leu130Phe) rs961740482
NM_013339.4(ALG6):c.410A>T (p.Glu137Val)
NM_013339.4(ALG6):c.415T>C (p.Ser139Pro)
NM_013339.4(ALG6):c.419C>T (p.Thr140Ile)
NM_013339.4(ALG6):c.425A>T (p.Lys142Ile) rs2100417063
NM_013339.4(ALG6):c.428A>C (p.Lys143Thr) rs2100417066
NM_013339.4(ALG6):c.429G>A (p.Lys143=) rs193223712
NM_013339.4(ALG6):c.431T>C (p.Ile144Thr)
NM_013339.4(ALG6):c.434C>G (p.Ala145Gly)
NM_013339.4(ALG6):c.446G>C (p.Cys149Ser) rs2100417551
NM_013339.4(ALG6):c.44T>A (p.Leu15Gln)
NM_013339.4(ALG6):c.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.471_476del (p.156_157LI[1]) rs1553155569
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.4G>A (p.Glu2Lys)
NM_013339.4(ALG6):c.532G>A (p.Val178Ile) rs2100420805
NM_013339.4(ALG6):c.548G>A (p.Cys183Tyr)
NM_013339.4(ALG6):c.553T>C (p.Cys185Arg)
NM_013339.4(ALG6):c.563T>A (p.Leu188Gln) rs1446317739
NM_013339.4(ALG6):c.602A>G (p.Gln201Arg) rs1644514423
NM_013339.4(ALG6):c.604A>G (p.Met202Val)
NM_013339.4(ALG6):c.604A>T (p.Met202Leu) rs757012140
NM_013339.4(ALG6):c.619G>A (p.Ala207Thr)
NM_013339.4(ALG6):c.619G>T (p.Ala207Ser) rs756038267
NM_013339.4(ALG6):c.625C>T (p.Pro209Ser)
NM_013339.4(ALG6):c.628T>G (p.Phe210Val)
NM_013339.4(ALG6):c.634T>G (p.Cys212Gly) rs1644514646
NM_013339.4(ALG6):c.656T>C (p.Phe219Ser)
NM_013339.4(ALG6):c.677A>T (p.Lys226Met)
NM_013339.4(ALG6):c.680+4A>G
NM_013339.4(ALG6):c.681-18C>G
NM_013339.4(ALG6):c.681-5T>G
NM_013339.4(ALG6):c.681-6T>G
NM_013339.4(ALG6):c.682T>C (p.Phe228Leu)
NM_013339.4(ALG6):c.692T>C (p.Leu231Pro)
NM_013339.4(ALG6):c.6G>T (p.Glu2Asp)
NM_013339.4(ALG6):c.707G>A (p.Cys236Tyr)
NM_013339.4(ALG6):c.711TGT[1] (p.Val239del)
NM_013339.4(ALG6):c.712G>A (p.Val238Ile)
NM_013339.4(ALG6):c.714T>C (p.Val238=)
NM_013339.4(ALG6):c.726C>G (p.Phe242Leu)
NM_013339.4(ALG6):c.728T>C (p.Val243Ala) rs886046472
NM_013339.4(ALG6):c.731T>A (p.Leu244His)
NM_013339.4(ALG6):c.742C>A (p.Pro248Thr)
NM_013339.4(ALG6):c.778C>G (p.Leu260Val)
NM_013339.4(ALG6):c.781AGA[1] (p.Arg262del) rs886548508
NM_013339.4(ALG6):c.794C>T (p.Pro265Leu)
NM_013339.4(ALG6):c.816+4T>G
NM_013339.4(ALG6):c.823G>A (p.Val275Ile)
NM_013339.4(ALG6):c.826G>A (p.Ala276Thr)
NM_013339.4(ALG6):c.830A>G (p.Asn277Ser)
NM_013339.4(ALG6):c.843C>T (p.Ser281=)
NM_013339.4(ALG6):c.846C>G (p.Phe282Leu)
NM_013339.4(ALG6):c.857T>G (p.Leu286Arg)
NM_013339.4(ALG6):c.880C>T (p.Arg294Cys)
NM_013339.4(ALG6):c.940A>G (p.Ile314Val)
NM_013339.4(ALG6):c.964T>G (p.Ser322Ala)
NM_013339.4(ALG6):c.987G>A (p.Leu329=)
NM_013339.4(ALG6):c.988G>T (p.Val330Phe) rs1057518724
NM_014908.3(DOLK):c.971_974delinsT (p.Ser324_Ser325delinsPhe) rs1554826767
NM_014908.4(DOLK):c.-15C>T rs1272594617
NM_014908.4(DOLK):c.-211C>T rs565536230
NM_014908.4(DOLK):c.1009C>G (p.Arg337Gly) rs1276394817
NM_014908.4(DOLK):c.101T>C (p.Ile34Thr) rs1554826863
NM_014908.4(DOLK):c.1028T>C (p.Ile343Thr)
NM_014908.4(DOLK):c.1039A>G (p.Thr347Ala)
NM_014908.4(DOLK):c.1045A>C (p.Ile349Leu)
NM_014908.4(DOLK):c.1058T>C (p.Ile353Thr) rs2131127590
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
NM_014908.4(DOLK):c.106G>A (p.Ala36Thr) rs1841688809
NM_014908.4(DOLK):c.1082T>C (p.Val361Ala)
NM_014908.4(DOLK):c.1089C>A (p.Ala363=)
NM_014908.4(DOLK):c.1090_1099del (p.Thr364fs) rs2131127481
NM_014908.4(DOLK):c.109A>C (p.Thr37Pro)
NM_014908.4(DOLK):c.1103C>T (p.Ala368Val)
NM_014908.4(DOLK):c.1105G>A (p.Val369Ile)
NM_014908.4(DOLK):c.1126G>A (p.Val376Met) rs1841662463
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys) rs775869216
NM_014908.4(DOLK):c.113T>C (p.Val38Ala)
NM_014908.4(DOLK):c.118G>A (p.Asp40Asn)
NM_014908.4(DOLK):c.1193A>G (p.Glu398Gly)
NM_014908.4(DOLK):c.1195C>G (p.Arg399Gly)
NM_014908.4(DOLK):c.1224C>T (p.His408=)
NM_014908.4(DOLK):c.1224_1225del (p.Ile409fs) rs1223257193
NM_014908.4(DOLK):c.1227C>G (p.Ile409Met) rs1841659405
NM_014908.4(DOLK):c.1229A>T (p.Tyr410Phe) rs2131127216
NM_014908.4(DOLK):c.122G>A (p.Arg41Gln) rs1841688531
NM_014908.4(DOLK):c.1235T>C (p.Leu412Pro) rs1841659135
NM_014908.4(DOLK):c.1241G>A (p.Gly414Asp) rs1554826737
NM_014908.4(DOLK):c.1245_1246del (p.Met415fs) rs1841658916
NM_014908.4(DOLK):c.1257_1258del (p.Ile419fs)
NM_014908.4(DOLK):c.1267C>T (p.Pro423Ser) rs1354312358
NM_014908.4(DOLK):c.1273C>T (p.Pro425Ser) rs2131127164
NM_014908.4(DOLK):c.1275del (p.Cys426fs) rs1401485925
NM_014908.4(DOLK):c.1278C>T (p.Cys426=)
NM_014908.4(DOLK):c.1282del (p.Gln428fs)
NM_014908.4(DOLK):c.1284G>C (p.Gln428His) rs1458281229
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg) rs140983401
NM_014908.4(DOLK):c.1300G>A (p.Gly434Arg) rs2131127105
NM_014908.4(DOLK):c.1302_1311del (p.Ala435fs)
NM_014908.4(DOLK):c.1303G>A (p.Ala435Thr) rs1306365829
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
NM_014908.4(DOLK):c.1330G>A (p.Val444Ile) rs2131127044
NM_014908.4(DOLK):c.1332_1333dup (p.Leu445fs) rs1287763056
NM_014908.4(DOLK):c.1344_1346dup (p.Val449_Gly450insVal)
NM_014908.4(DOLK):c.1348G>A (p.Gly450Ser)
NM_014908.4(DOLK):c.1352A>G (p.Asp451Gly)
NM_014908.4(DOLK):c.1363T>A (p.Ser455Thr)
NM_014908.4(DOLK):c.136G>A (p.Ala46Thr) rs2131129267
NM_014908.4(DOLK):c.137C>T (p.Ala46Val) rs1554826859
NM_014908.4(DOLK):c.1381A>G (p.Met461Val) rs1199897936
NM_014908.4(DOLK):c.1383G>C (p.Met461Ile) rs749027694
NM_014908.4(DOLK):c.1393C>T (p.Arg465Cys)
NM_014908.4(DOLK):c.1402G>A (p.Gly468Arg) rs750308538
NM_014908.4(DOLK):c.1424G>T (p.Gly475Val) rs1588261710
NM_014908.4(DOLK):c.1427_1428delinsTT (p.Thr476Ile)
NM_014908.4(DOLK):c.1429A>G (p.Met477Val) rs763666338
NM_014908.4(DOLK):c.143C>T (p.Ala48Val) rs1293227197
NM_014908.4(DOLK):c.1456T>A (p.Ser486Thr)
NM_014908.4(DOLK):c.1457C>T (p.Ser486Phe) rs1180339847
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser) rs1588261659
NM_014908.4(DOLK):c.148G>A (p.Ala50Thr) rs2131129240
NM_014908.4(DOLK):c.1490T>C (p.Val497Ala) rs1354195997
NM_014908.4(DOLK):c.1505G>C (p.Ser502Thr)
NM_014908.4(DOLK):c.1522G>T (p.Gly508Trp) rs2131126776
NM_014908.4(DOLK):c.1525T>G (p.Ser509Ala)
NM_014908.4(DOLK):c.1528A>G (p.Ile510Val) rs777422185
NM_014908.4(DOLK):c.1532G>A (p.Ser511Asn) rs1178866364
NM_014908.4(DOLK):c.1569_1570insAATCT (p.Asp524fs) rs2131126691
NM_014908.4(DOLK):c.156G>C (p.Gln52His) rs1339562262
NM_014908.4(DOLK):c.1571A>T (p.Asp524Val)
NM_014908.4(DOLK):c.1574A>G (p.Asn525Ser)
NM_014908.4(DOLK):c.1576C>T (p.Leu526Phe)
NM_014908.4(DOLK):c.1578_1580del (p.Leu528del) rs1841648901
NM_014908.4(DOLK):c.1600A>G (p.Ile534Val)
NM_014908.4(DOLK):c.1606C>G (p.Leu536Val)
NM_014908.4(DOLK):c.1616A>G (p.Ter539Trp)
NM_014908.4(DOLK):c.18A>G (p.Pro6=) rs1841691192
NM_014908.4(DOLK):c.191T>C (p.Leu64Pro)
NM_014908.4(DOLK):c.196C>T (p.Gln66Ter) rs876657785
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
NM_014908.4(DOLK):c.202A>T (p.Ser68Cys) rs2131129139
NM_014908.4(DOLK):c.206C>T (p.Ala69Val) rs1554826850
NM_014908.4(DOLK):c.219C>G (p.Phe73Leu) rs761385789
NM_014908.4(DOLK):c.22C>T (p.Pro8Ser) rs565096448
NM_014908.4(DOLK):c.248C>T (p.Pro83Leu) rs2131129046
NM_014908.4(DOLK):c.250G>T (p.Ala84Ser) rs1841684950
NM_014908.4(DOLK):c.263T>C (p.Met88Thr) rs1588262888
NM_014908.4(DOLK):c.26C>T (p.Ala9Val)
NM_014908.4(DOLK):c.275G>C (p.Gly92Ala) rs1841684568
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
NM_014908.4(DOLK):c.302C>T (p.Thr101Ile) rs1192393606
NM_014908.4(DOLK):c.304G>T (p.Ala102Ser) rs1841683982
NM_014908.4(DOLK):c.305C>G (p.Ala102Gly)
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr) rs1454594732
NM_014908.4(DOLK):c.313C>T (p.Pro105Ser)
NM_014908.4(DOLK):c.324G>C (p.Glu108Asp) rs1841683382
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser) rs755188614
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) rs755188614
NM_014908.4(DOLK):c.325C>T (p.Arg109Cys) rs755188614
NM_014908.4(DOLK):c.330T>G (p.Phe110Leu)
NM_014908.4(DOLK):c.332G>A (p.Gly111Asp)
NM_014908.4(DOLK):c.34C>A (p.Pro12Thr) rs2131129450
NM_014908.4(DOLK):c.355A>G (p.Met119Val) rs2131128868
NM_014908.4(DOLK):c.367C>T (p.Leu123Phe)
NM_014908.4(DOLK):c.376T>G (p.Ser126Ala) rs1564546286
NM_014908.4(DOLK):c.400C>T (p.Arg134Cys)
NM_014908.4(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.4(DOLK):c.409C>T (p.Pro137Ser) rs2131128759
NM_014908.4(DOLK):c.433G>T (p.Gly145Cys)
NM_014908.4(DOLK):c.446G>A (p.Gly149Asp)
NM_014908.4(DOLK):c.460A>G (p.Ile154Val) rs1841679811
NM_014908.4(DOLK):c.464T>C (p.Met155Thr) rs2131128665
NM_014908.4(DOLK):c.470A>C (p.His157Pro) rs145050630
NM_014908.4(DOLK):c.477G>C (p.Leu159Phe)
NM_014908.4(DOLK):c.481G>T (p.Val161Leu) rs769800558
NM_014908.4(DOLK):c.490G>A (p.Val164Met) rs767933821
NM_014908.4(DOLK):c.502_522del (p.Leu168_Phe174del)
NM_014908.4(DOLK):c.507A>T (p.Glu169Asp) rs1841678421
NM_014908.4(DOLK):c.520T>C (p.Phe174Leu)
NM_014908.4(DOLK):c.521T>G (p.Phe174Cys) rs2131128535
NM_014908.4(DOLK):c.559C>T (p.Arg187Cys)
NM_014908.4(DOLK):c.560G>A (p.Arg187His) rs377658203
NM_014908.4(DOLK):c.565T>A (p.Phe189Ile) rs2131128464
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
NM_014908.4(DOLK):c.572C>G (p.Pro191Arg) rs767965852
NM_014908.4(DOLK):c.591_592dup (p.Leu198fs)
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
NM_014908.4(DOLK):c.611T>C (p.Val204Ala) rs1554826810
NM_014908.4(DOLK):c.620A>C (p.Gln207Pro) rs2131128386
NM_014908.4(DOLK):c.621G>T (p.Gln207His) rs1841675660
NM_014908.4(DOLK):c.64G>A (p.Ala22Thr) rs2131129407
NM_014908.4(DOLK):c.656del (p.Gln219fs) rs2131128315
NM_014908.4(DOLK):c.664C>T (p.Pro222Ser)
NM_014908.4(DOLK):c.684GGT[2] (p.Val232del) rs1841674220
NM_014908.4(DOLK):c.702G>A (p.Met234Ile)
NM_014908.4(DOLK):c.702G>C (p.Met234Ile) rs746656818
NM_014908.4(DOLK):c.731dup (p.Phe245fs) rs1588262474
NM_014908.4(DOLK):c.736G>C (p.Val246Leu) rs1029841868
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
NM_014908.4(DOLK):c.758G>C (p.Trp253Ser) rs2131128090
NM_014908.4(DOLK):c.771C>G (p.Ile257Met) rs147416890
NM_014908.4(DOLK):c.781C>A (p.Leu261Ile)
NM_014908.4(DOLK):c.787A>T (p.Thr263Ser) rs2131128060
NM_014908.4(DOLK):c.800G>T (p.Ser267Ile)
NM_014908.4(DOLK):c.829C>T (p.Arg277Trp) rs1253487442
NM_014908.4(DOLK):c.859C>T (p.Leu287Phe) rs1841670200
NM_014908.4(DOLK):c.860TTC[1] (p.Leu288del) rs773789842
NM_014908.4(DOLK):c.889C>T (p.Arg297Cys)
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
NM_014908.4(DOLK):c.931G>T (p.Ala311Ser) rs1554826773
NM_014908.4(DOLK):c.941T>C (p.Val314Ala)
NM_014908.4(DOLK):c.956A>G (p.Asn319Ser)
NM_014908.4(DOLK):c.962A>G (p.Lys321Arg) rs1841666950
NM_014908.4(DOLK):c.964C>G (p.Arg322Gly)
NM_014908.4(DOLK):c.965G>A (p.Arg322Gln)
NM_014908.4(DOLK):c.968C>T (p.Ser323Leu) rs2131127724
NM_014908.4(DOLK):c.96G>A (p.Leu32=)
NM_014908.4(DOLK):c.971C>T (p.Ser324Phe)
NM_014908.4(DOLK):c.977A>T (p.Glu326Val) rs1841666209
NM_014908.4(DOLK):c.98G>T (p.Ser33Ile)
NM_014908.4(DOLK):c.993G>C (p.Gln331His) rs1841665962
NM_019109.5(ALG1):c.1017_1019dup (p.Gln339dup) rs2142721988
NM_019109.5(ALG1):c.1034C>T (p.Thr345Ile)
NM_019109.5(ALG1):c.1043T>G (p.Leu348Arg) rs2142722084
NM_019109.5(ALG1):c.1051G>A (p.Glu351Lys)
NM_019109.5(ALG1):c.1056C>G (p.Asp352Glu)
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) rs1596259672
NM_019109.5(ALG1):c.1073G>C (p.Gly358Ala)
NM_019109.5(ALG1):c.1081G>T (p.Asp361Tyr) rs2142725570
NM_019109.5(ALG1):c.1090G>A (p.Val364Ile)
NM_019109.5(ALG1):c.1091_1092delinsGG (p.Val364Gly) rs2142725608
NM_019109.5(ALG1):c.1136T>G (p.Val379Gly) rs1555452573
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.5(ALG1):c.1165G>A (p.Val389Met) rs2142725866
NM_019109.5(ALG1):c.1166T>C (p.Val389Ala) rs1394994402
NM_019109.5(ALG1):c.1193A>G (p.His398Arg) rs1292094188
NM_019109.5(ALG1):c.1199T>G (p.Leu400Arg)
NM_019109.5(ALG1):c.119T>C (p.Leu40Pro) rs2142698518
NM_019109.5(ALG1):c.11C>T (p.Ser4Leu)
NM_019109.5(ALG1):c.1208A>C (p.His403Pro)
NM_019109.5(ALG1):c.1210GAA[1] (p.Glu405del)
NM_019109.5(ALG1):c.1250C>G (p.Ala417Gly)
NM_019109.5(ALG1):c.1252G>T (p.Ala418Ser)
NM_019109.5(ALG1):c.1257G>C (p.Gln419His) rs2142728655
NM_019109.5(ALG1):c.1287_1288delinsAA (p.Asp429_Pro430delinsGluThr) rs2142732373
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.1325G>A (p.Arg442Gln) rs758197753
NM_019109.5(ALG1):c.1327G>A (p.Glu443Lys) rs540792178
NM_019109.5(ALG1):c.1342C>T (p.Arg448Ter) rs1047747
NM_019109.5(ALG1):c.1343G>A (p.Arg448Gln)
NM_019109.5(ALG1):c.1345T>C (p.Trp449Arg) rs144047909
NM_019109.5(ALG1):c.1349A>G (p.Asp450Gly)
NM_019109.5(ALG1):c.1358G>T (p.Trp453Leu)
NM_019109.5(ALG1):c.1365G>C (p.Gln455His)
NM_019109.5(ALG1):c.1369G>A (p.Val457Met)
NM_019109.5(ALG1):c.1376C>T (p.Pro459Leu)
NM_019109.5(ALG1):c.1385T>C (p.Met462Thr) rs1957097146
NM_019109.5(ALG1):c.13T>C (p.Cys5Arg) rs752179113
NM_019109.5(ALG1):c.13T>G (p.Cys5Gly)
NM_019109.5(ALG1):c.160C>G (p.Leu54Val) rs1956824877
NM_019109.5(ALG1):c.169G>A (p.Ala57Thr)
NM_019109.5(ALG1):c.169G>T (p.Ala57Ser)
NM_019109.5(ALG1):c.173T>C (p.Met58Thr)
NM_019109.5(ALG1):c.176A>C (p.His59Pro) rs773372110
NM_019109.5(ALG1):c.176A>G (p.His59Arg) rs773372110
NM_019109.5(ALG1):c.191C>T (p.Thr64Ile) rs145474820
NM_019109.5(ALG1):c.193C>T (p.Leu65Phe)
NM_019109.5(ALG1):c.19G>C (p.Val7Leu)
NM_019109.5(ALG1):c.200G>T (p.Gly67Val) rs778626972
NM_019109.5(ALG1):c.208+19_208+20insTATG rs756830715
NM_019109.5(ALG1):c.225T>A (p.Asp75Glu) rs1205327334
NM_019109.5(ALG1):c.238A>C (p.Asn80His)
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp) rs755346143
NM_019109.5(ALG1):c.240C>G (p.Asn80Lys)
NM_019109.5(ALG1):c.254T>C (p.Ile85Thr)
NM_019109.5(ALG1):c.25C>G (p.Leu9Val)
NM_019109.5(ALG1):c.283G>A (p.Ala95Thr)
NM_019109.5(ALG1):c.287-7C>G
NM_019109.5(ALG1):c.287T>A (p.Val96Asp) rs534863399
NM_019109.5(ALG1):c.287T>G (p.Val96Gly) rs534863399
NM_019109.5(ALG1):c.28_45dup (p.Leu15_Pro16insAlaLeuCysLeuLeuLeu)
NM_019109.5(ALG1):c.292C>G (p.Pro98Ala) rs1252818613
NM_019109.5(ALG1):c.29C>A (p.Ala10Glu) rs767455250
NM_019109.5(ALG1):c.310G>A (p.Gly104Arg) rs992880561
NM_019109.5(ALG1):c.317A>C (p.Lys106Thr)
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) rs1436106795
NM_019109.5(ALG1):c.368C>G (p.Pro123Arg)
NM_019109.5(ALG1):c.377A>T (p.Tyr126Phe) rs200094659
NM_019109.5(ALG1):c.390+3G>T
NM_019109.5(ALG1):c.390+5G>A
NM_019109.5(ALG1):c.390+6T>G rs2142702237
NM_019109.5(ALG1):c.40_41insAGCTGC (p.Leu13_Leu14insGlnLeu)
NM_019109.5(ALG1):c.415G>A (p.Ala139Thr)
NM_019109.5(ALG1):c.415G>T (p.Ala139Ser)
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019109.5(ALG1):c.437G>C (p.Cys146Ser) rs1956892771
NM_019109.5(ALG1):c.440T>A (p.Leu147His)
NM_019109.5(ALG1):c.468G>C (p.Trp156Cys) rs2142707214
NM_019109.5(ALG1):c.47_58dup (p.Pro16_Leu19dup) rs1414667961
NM_019109.5(ALG1):c.487A>T (p.Ile163Phe) rs2142707280
NM_019109.5(ALG1):c.493G>C (p.Gly165Arg) rs1192356042
NM_019109.5(ALG1):c.494G>C (p.Gly165Ala)
NM_019109.5(ALG1):c.494G>T (p.Gly165Val)
NM_019109.5(ALG1):c.49CTG[5] (p.Leu20dup) rs760240522
NM_019109.5(ALG1):c.506G>A (p.Gly169Asp) rs2142707365
NM_019109.5(ALG1):c.514C>A (p.His172Asn)
NM_019109.5(ALG1):c.514C>T (p.His172Tyr)
NM_019109.5(ALG1):c.523G>A (p.Val175Ile)
NM_019109.5(ALG1):c.523G>T (p.Val175Phe) rs762783729
NM_019109.5(ALG1):c.529C>G (p.Leu177Val) rs200194917
NM_019109.5(ALG1):c.539+9C>G
NM_019109.5(ALG1):c.53T>C (p.Leu18Pro)
NM_019109.5(ALG1):c.559C>T (p.Arg187Cys)
NM_019109.5(ALG1):c.562C>A (p.Leu188Met)
NM_019109.5(ALG1):c.568C>A (p.His190Asn) rs771904667
NM_019109.5(ALG1):c.580T>C (p.Cys194Arg)
NM_019109.5(ALG1):c.583G>T (p.Val195Phe) rs2142712225
NM_019109.5(ALG1):c.590A>C (p.Asn197Thr)
NM_019109.5(ALG1):c.591T>A (p.Asn197Lys) rs1956934637
NM_019109.5(ALG1):c.593C>G (p.Ala198Gly)
NM_019109.5(ALG1):c.602A>C (p.Glu201Ala)
NM_019109.5(ALG1):c.604G>T (p.Asp202Tyr) rs1239003111
NM_019109.5(ALG1):c.677C>G (p.Pro226Arg)
NM_019109.5(ALG1):c.679C>G (p.Leu227Val)
NM_019109.5(ALG1):c.717C>T (p.Ser239=) rs1956945310
NM_019109.5(ALG1):c.73C>T (p.Arg25Cys) rs1956823060
NM_019109.5(ALG1):c.740+6C>T
NM_019109.5(ALG1):c.740G>T (p.Arg247Leu)
NM_019109.5(ALG1):c.756C>G (p.Asp252Glu)
NM_019109.5(ALG1):c.772_789dup (p.Ser258_Arg263dup) rs1331794136
NM_019109.5(ALG1):c.788G>A (p.Arg263Gln) rs1308969550
NM_019109.5(ALG1):c.802G>T (p.Gly268Trp)
NM_019109.5(ALG1):c.809_832del (p.Val270_Pro277del) rs1206167331
NM_019109.5(ALG1):c.817C>G (p.Leu273Val)
NM_019109.5(ALG1):c.823G>C (p.Glu275Gln)
NM_019109.5(ALG1):c.832G>A (p.Ala278Thr) rs1364564952
NM_019109.5(ALG1):c.835C>G (p.Leu279Val) rs1057520106
NM_019109.5(ALG1):c.83G>C (p.Arg28Pro)
NM_019109.5(ALG1):c.851C>T (p.Thr284Met)
NM_019109.5(ALG1):c.863-11T>C
NM_019109.5(ALG1):c.863-3T>A
NM_019109.5(ALG1):c.863-3T>C rs1208866677
NM_019109.5(ALG1):c.872A>G (p.Asp291Gly) rs192564717
NM_019109.5(ALG1):c.872A>T (p.Asp291Val) rs192564717
NM_019109.5(ALG1):c.873C>G (p.Asp291Glu)
NM_019109.5(ALG1):c.877_879del (p.Ser293del) rs776453756
NM_019109.5(ALG1):c.878C>G (p.Ser293Cys) rs1421613066
NM_019109.5(ALG1):c.889G>T (p.Ala297Ser) rs2142716887
NM_019109.5(ALG1):c.901+5G>T
NM_019109.5(ALG1):c.901A>C (p.Lys301Gln) rs753600353
NM_019109.5(ALG1):c.901A>G (p.Lys301Glu) rs753600353
NM_019109.5(ALG1):c.931A>G (p.Asn311Asp)
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_019109.5(ALG1):c.946G>C (p.Val316Leu)
NM_019109.5(ALG1):c.950G>C (p.Cys317Ser) rs373396169
NM_019109.5(ALG1):c.950G>T (p.Cys317Phe)
NM_019109.5(ALG1):c.961+4C>G rs2142718757
NM_019109.5(ALG1):c.964A>C (p.Lys322Gln)
NM_019109.5(ALG1):c.965A>T (p.Lys322Ile) rs145851409
NM_019109.5(ALG1):c.970C>G (p.Pro324Ala)
NM_019109.5(ALG1):c.977G>C (p.Arg326Thr)
NM_019109.5(ALG1):c.979G>A (p.Glu327Lys)
NM_019109.5(ALG1):c.97C>T (p.Arg33Trp)
NM_019109.5(ALG1):c.988A>G (p.Ser330Gly) rs764029645
NM_019109.5(ALG1):c.994C>G (p.Leu332Val) rs1957007425
NM_021645.6(UTP14C):c.-193G>T rs1954265263
NM_021645.6(UTP14C):c.1781T>C (p.Ile594Thr)
NM_021645.6(UTP14C):c.83G>A (p.Ser28Asn) rs886050314
NM_024079.5(ALG8):c.1028T>C (p.Ile343Thr)
NM_024079.5(ALG8):c.103A>G (p.Thr35Ala)
NM_024079.5(ALG8):c.1123A>G (p.Met375Val)
NM_024079.5(ALG8):c.115G>T (p.Val39Leu)
NM_024079.5(ALG8):c.1162G>C (p.Ala388Pro)
NM_024079.5(ALG8):c.1168C>A (p.Leu390Ile)
NM_024079.5(ALG8):c.1274C>A (p.Pro425Gln)
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.1298_1334dup (p.Leu445_Lys446insHisValThrIleHisHisIleTer)
NM_024079.5(ALG8):c.1301T>G (p.Met434Arg)
NM_024079.5(ALG8):c.1328C>T (p.Ser443Leu)
NM_024079.5(ALG8):c.1347C>T (p.Phe449=)
NM_024079.5(ALG8):c.1369A>G (p.Asn457Asp) rs2136868764
NM_024079.5(ALG8):c.136A>G (p.Ile46Val)
NM_024079.5(ALG8):c.1393C>T (p.Leu465Phe) rs2136868701
NM_024079.5(ALG8):c.1429G>C (p.Val477Leu) rs769413308
NM_024079.5(ALG8):c.143A>G (p.His48Arg) rs1861126453
NM_024079.5(ALG8):c.1463C>G (p.Pro488Arg) rs758549233
NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg) rs2136868362
NM_024079.5(ALG8):c.1540G>A (p.Val514Ile)
NM_024079.5(ALG8):c.191C>T (p.Thr64Met)
NM_024079.5(ALG8):c.19G>A (p.Ala7Thr) rs1861709687
NM_024079.5(ALG8):c.230T>C (p.Ile77Thr)
NM_024079.5(ALG8):c.320G>T (p.Arg107Ile)
NM_024079.5(ALG8):c.364C>T (p.Arg122Cys)
NM_024079.5(ALG8):c.389G>A (p.Gly130Glu)
NM_024079.5(ALG8):c.438G>A (p.Ser146=)
NM_024079.5(ALG8):c.441A>T (p.Val147=) rs112109685
NM_024079.5(ALG8):c.446T>C (p.Leu149Pro)
NM_024079.5(ALG8):c.478+6C>T
NM_024079.5(ALG8):c.482T>C (p.Ile161Thr)
NM_024079.5(ALG8):c.517A>G (p.Met173Val) rs146425128
NM_024079.5(ALG8):c.52G>T (p.Ala18Ser)
NM_024079.5(ALG8):c.552G>T (p.Arg184Ser)
NM_024079.5(ALG8):c.554A>G (p.His185Arg)
NM_024079.5(ALG8):c.568T>G (p.Phe190Val) rs1860461907
NM_024079.5(ALG8):c.588A>G (p.Leu196=) rs562915665
NM_024079.5(ALG8):c.608T>G (p.Leu203Arg)
NM_024079.5(ALG8):c.622G>A (p.Ala208Thr)
NM_024079.5(ALG8):c.644G>A (p.Arg215Gln)
NM_024079.5(ALG8):c.647C>G (p.Ser216Cys) rs886048687
NM_024079.5(ALG8):c.671C>A (p.Pro224Gln)
NM_024079.5(ALG8):c.674-20A>C
NM_024079.5(ALG8):c.709C>T (p.Arg237Cys)
NM_024079.5(ALG8):c.743T>C (p.Val248Ala)
NM_024079.5(ALG8):c.757T>G (p.Leu253Val)
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.793G>A (p.Val265Ile)
NM_024079.5(ALG8):c.799T>C (p.Ser267Pro)
NM_024079.5(ALG8):c.808T>C (p.Phe270Leu)
NM_024079.5(ALG8):c.824G>T (p.Gly275Val)
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263
NM_024079.5(ALG8):c.859G>A (p.Ala287Thr)
NM_024079.5(ALG8):c.899-13A>T
NM_024079.5(ALG8):c.903G>C (p.Leu301Phe)
NM_024079.5(ALG8):c.922C>T (p.Pro308Ser)
NM_024079.5(ALG8):c.96-9T>G
NM_024079.5(ALG8):c.97C>T (p.His33Tyr)
NM_024079.5(ALG8):c.982G>A (p.Val328Ile) rs2136891638
NM_024105.4(ALG12):c.*131C>A rs2060526664
NM_024105.4(ALG12):c.*250C>T rs1329225644
NM_024105.4(ALG12):c.*484C>A rs77163946
NM_024105.4(ALG12):c.*486C>A rs1324817015
NM_024105.4(ALG12):c.-203G>C rs9616379
NM_024105.4(ALG12):c.-231T>G rs886057617
NM_024105.4(ALG12):c.-43C>T rs886057615
NM_024105.4(ALG12):c.1008A>C (p.Lys336Asn)
NM_024105.4(ALG12):c.1024A>C (p.Lys342Gln)
NM_024105.4(ALG12):c.1030G>A (p.Gly344Arg) rs2147580583
NM_024105.4(ALG12):c.1033T>C (p.Ser345Pro) rs2147580574
NM_024105.4(ALG12):c.1057G>C (p.Val353Leu)
NM_024105.4(ALG12):c.1067C>T (p.Ala356Val) rs866503885
NM_024105.4(ALG12):c.1069G>A (p.Ala357Thr)
NM_024105.4(ALG12):c.1127T>C (p.Met376Thr)
NM_024105.4(ALG12):c.1135C>G (p.Leu379Val) rs887422058
NM_024105.4(ALG12):c.1141C>G (p.Gln381Glu)
NM_024105.4(ALG12):c.1150C>T (p.Pro384Ser)
NM_024105.4(ALG12):c.1156C>G (p.Gln386Glu)
NM_024105.4(ALG12):c.1183G>C (p.Val395Leu)
NM_024105.4(ALG12):c.1221A>G (p.Gln407=)
NM_024105.4(ALG12):c.1238+5G>T
NM_024105.4(ALG12):c.1258G>A (p.Val420Met)
NM_024105.4(ALG12):c.1263G>C (p.Gln421His)
NM_024105.4(ALG12):c.1264C>G (p.Pro422Ala)
NM_024105.4(ALG12):c.1274G>T (p.Gly425Val)
NM_024105.4(ALG12):c.1280T>C (p.Leu427Pro)
NM_024105.4(ALG12):c.1288A>C (p.Thr430Pro) rs878852984
NM_024105.4(ALG12):c.1302G>A (p.Met434Ile) rs781494329
NM_024105.4(ALG12):c.1307C>T (p.Ala436Val)
NM_024105.4(ALG12):c.1328T>C (p.Leu443Pro)
NM_024105.4(ALG12):c.1330T>C (p.Tyr444His)
NM_024105.4(ALG12):c.133C>A (p.Leu45Met) rs779888121
NM_024105.4(ALG12):c.1369A>G (p.Thr457Ala)
NM_024105.4(ALG12):c.1414G>A (p.Val472Ile)
NM_024105.4(ALG12):c.1451_1459del (p.Leu484_Arg486del)
NM_024105.4(ALG12):c.1452C>T (p.Leu484=) rs772352960
NM_024105.4(ALG12):c.1456del (p.Arg486fs) rs768823564
NM_024105.4(ALG12):c.1460C>G (p.Pro487Arg)
NM_024105.4(ALG12):c.1463C>T (p.Ser488Phe) rs2060527495
NM_024105.4(ALG12):c.1466G>A (p.Ter489=)
NM_024105.4(ALG12):c.1467A>C (p.Ter489Cys)
NM_024105.4(ALG12):c.175G>C (p.Glu59Gln)
NM_024105.4(ALG12):c.193C>T (p.Pro65Ser)
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024105.4(ALG12):c.204C>G (p.Phe68Leu) rs2060591785
NM_024105.4(ALG12):c.208G>A (p.Gly70Arg) rs1208318216
NM_024105.4(ALG12):c.237C>A (p.Ser79Arg)
NM_024105.4(ALG12):c.270G>A (p.Met90Ile)
NM_024105.4(ALG12):c.28C>T (p.Arg10Trp) rs148343441
NM_024105.4(ALG12):c.294A>G (p.Ile98Met)
NM_024105.4(ALG12):c.295+6G>A rs368352058
NM_024105.4(ALG12):c.295+6G>C
NM_024105.4(ALG12):c.338C>T (p.Thr113Met)
NM_024105.4(ALG12):c.374T>C (p.Met125Thr)
NM_024105.4(ALG12):c.376G>A (p.Val126Met)
NM_024105.4(ALG12):c.387G>A (p.Met129Ile)
NM_024105.4(ALG12):c.390CTG[1] (p.Cys131del)
NM_024105.4(ALG12):c.395G>T (p.Trp132Leu)
NM_024105.4(ALG12):c.428A>C (p.Tyr143Ser)
NM_024105.4(ALG12):c.468A>G (p.Val156=) rs1221631800
NM_024105.4(ALG12):c.469G>C (p.Val157Leu)
NM_024105.4(ALG12):c.470-12A>T rs191669043
NM_024105.4(ALG12):c.472C>G (p.Leu158Val)
NM_024105.4(ALG12):c.484G>A (p.Ala162Thr)
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.529G>A (p.Ala177Thr) rs1186957751
NM_024105.4(ALG12):c.533T>C (p.Phe178Ser)
NM_024105.4(ALG12):c.551G>C (p.Arg184Thr) rs1358548843
NM_024105.4(ALG12):c.559C>A (p.Leu187Met)
NM_024105.4(ALG12):c.610G>A (p.Val204Ile) rs779494077
NM_024105.4(ALG12):c.616G>A (p.Val206Ile) rs534212642
NM_024105.4(ALG12):c.619G>T (p.Val207Phe)
NM_024105.4(ALG12):c.626C>G (p.Ala209Gly)
NM_024105.4(ALG12):c.656T>G (p.Leu219Arg)
NM_024105.4(ALG12):c.718G>C (p.Gly240Arg) rs2146606588
NM_024105.4(ALG12):c.719G>A (p.Gly240Glu)
NM_024105.4(ALG12):c.736A>C (p.Asn246His)
NM_024105.4(ALG12):c.740C>T (p.Thr247Ile) rs1183282596
NM_024105.4(ALG12):c.746T>C (p.Leu249Pro) rs2146606524
NM_024105.4(ALG12):c.757T>C (p.Ser253Pro)
NM_024105.4(ALG12):c.762C>A (p.Asn254Lys) rs143204935
NM_024105.4(ALG12):c.764G>T (p.Trp255Leu)
NM_024105.4(ALG12):c.768+4_768+5insA rs2146606463
NM_024105.4(ALG12):c.800C>T (p.Ala267Val) rs1287436259
NM_024105.4(ALG12):c.802C>G (p.Leu268Val)
NM_024105.4(ALG12):c.808C>T (p.Arg270Cys)
NM_024105.4(ALG12):c.821G>A (p.Cys274Tyr)
NM_024105.4(ALG12):c.838C>T (p.Pro280Ser)
NM_024105.4(ALG12):c.839C>T (p.Pro280Leu)
NM_024105.4(ALG12):c.841C>A (p.Leu281Met) rs775415771
NM_024105.4(ALG12):c.845G>A (p.Gly282Asp) rs2147585166
NM_024105.4(ALG12):c.85C>T (p.Pro29Ser)
NM_024105.4(ALG12):c.866A>G (p.His289Arg)
NM_024105.4(ALG12):c.868G>A (p.Ala290Thr) rs2060551878
NM_024105.4(ALG12):c.875C>T (p.Thr292Met)
NM_024105.4(ALG12):c.898G>A (p.Ala300Thr)
NM_024105.4(ALG12):c.902T>C (p.Leu301Pro) rs1265937339
NM_024105.4(ALG12):c.91A>G (p.Thr31Ala)
NM_024105.4(ALG12):c.925G>A (p.Glu309Lys) rs2147584963
NM_024105.4(ALG12):c.953C>T (p.Pro318Leu) rs2147584901
NM_024105.4(ALG12):c.965T>A (p.Ile322Asn)
NM_024105.4(ALG12):c.96A>G (p.Lys32=) rs2146614770
NM_024105.4(ALG12):c.986C>T (p.Ser329Phe)
NM_024105.4(ALG12):c.995T>C (p.Leu332Pro)
NM_024592.5(SRD5A3):c.*1504A>G rs188625522
NM_024592.5(SRD5A3):c.*2022A>C rs1219052341
NM_024592.5(SRD5A3):c.*2090G>A rs547199503
NM_024592.5(SRD5A3):c.*2193G>T rs886059479
NM_024592.5(SRD5A3):c.*2256C>T rs886059481
NM_024592.5(SRD5A3):c.*2437G>A rs147183515
NM_024592.5(SRD5A3):c.*2437G>C rs147183515
NM_024592.5(SRD5A3):c.*2950T>G rs1363381757
NM_024592.5(SRD5A3):c.*622C>T rs951741748
NM_024592.5(SRD5A3):c.100C>G (p.Leu34Val) rs769919131
NM_024592.5(SRD5A3):c.126C>G (p.Gly42=) rs776362756
NM_024592.5(SRD5A3):c.182C>G (p.Ser61Trp)
NM_024592.5(SRD5A3):c.203C>A (p.Ala68Asp)
NM_024592.5(SRD5A3):c.22G>A (p.Glu8Lys) rs539407364
NM_024592.5(SRD5A3):c.307C>T (p.Pro103Ser)
NM_024592.5(SRD5A3):c.334C>T (p.Leu112Phe) rs1578206800
NM_024592.5(SRD5A3):c.344T>G (p.Leu115Arg)
NM_024592.5(SRD5A3):c.390C>G (p.Phe130Leu)
NM_024592.5(SRD5A3):c.416A>G (p.His139Arg) rs1719786702
NM_024592.5(SRD5A3):c.433T>C (p.Phe145Leu) rs1719787731
NM_024592.5(SRD5A3):c.506A>G (p.Tyr169Cys)
NM_024592.5(SRD5A3):c.56G>T (p.Trp19Leu)
NM_024592.5(SRD5A3):c.598C>T (p.Arg200Trp)
NM_024592.5(SRD5A3):c.613C>T (p.Leu205Phe) rs1719953488
NM_024592.5(SRD5A3):c.697+1G>C rs1719958144
NM_024592.5(SRD5A3):c.751G>C (p.Val251Leu)
NM_024592.5(SRD5A3):c.77T>G (p.Phe26Cys) rs1204016593
NM_024592.5(SRD5A3):c.83T>G (p.Leu28Arg)
NM_024592.5(SRD5A3):c.911T>C (p.Val304Ala) rs1720062980
NM_024592.5(SRD5A3):c.920C>T (p.Pro307Leu) rs769885824
NM_024592.5(SRD5A3):c.934G>C (p.Ala312Pro) rs1720064413
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024740.2(ALG9):c.*1297A>G rs577487864
NM_024740.2(ALG9):c.*1766A>G rs886047676
NM_024740.2(ALG9):c.*243G>A rs886047684
NM_024740.2(ALG9):c.*2443T>A rs146821834
NM_024740.2(ALG9):c.*2592T>C rs886047661
NM_024740.2(ALG9):c.*2597G>C rs1591752692
NM_024740.2(ALG9):c.*2648G>A rs1946165207
NM_024740.2(ALG9):c.*3798A>G rs1946041440
NM_024740.2(ALG9):c.*532C>T rs886047681
NM_024740.2(ALG9):c.1015C>T (p.His339Tyr)
NM_024740.2(ALG9):c.1060A>T (p.Met354Leu)
NM_024740.2(ALG9):c.1077A>G (p.Ile359Met)
NM_024740.2(ALG9):c.1091A>G (p.Gln364Arg) rs1956094478
NM_024740.2(ALG9):c.1174-19T>G
NM_024740.2(ALG9):c.1177A>C (p.Ser393Arg)
NM_024740.2(ALG9):c.1197A>G (p.Lys399=)
NM_024740.2(ALG9):c.11G>A (p.Arg4Gln)
NM_024740.2(ALG9):c.1212G>T (p.Val404=)
NM_024740.2(ALG9):c.1226G>T (p.Arg409Leu) rs929508101
NM_024740.2(ALG9):c.125G>C (p.Arg42Pro) rs781880611
NM_024740.2(ALG9):c.131+5G>A rs567032424
NM_024740.2(ALG9):c.131+5G>T rs567032424
NM_024740.2(ALG9):c.1317G>C (p.Leu439=)
NM_024740.2(ALG9):c.1324+6T>G
NM_024740.2(ALG9):c.1325-17A>G
NM_024740.2(ALG9):c.1352C>G (p.Pro451Arg)
NM_024740.2(ALG9):c.1364G>T (p.Arg455Leu)
NM_024740.2(ALG9):c.1382C>T (p.Thr461Ile)
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys) rs782023699
NM_024740.2(ALG9):c.1406G>A (p.Arg469Lys)
NM_024740.2(ALG9):c.1431A>G (p.Lys477=)
NM_024740.2(ALG9):c.1469A>T (p.Asp490Val)
NM_024740.2(ALG9):c.1550G>A (p.Arg517Gln)
NM_024740.2(ALG9):c.1588G>A (p.Glu530Lys) rs121908022
NM_024740.2(ALG9):c.1598G>C (p.Arg533Thr)
NM_024740.2(ALG9):c.1604T>C (p.Ile535Thr)
NM_024740.2(ALG9):c.1645A>G (p.Met549Val)
NM_024740.2(ALG9):c.1682A>G (p.Asn561Ser)
NM_024740.2(ALG9):c.1753G>A (p.Ala585Thr)
NM_024740.2(ALG9):c.1760A>G (p.Tyr587Cys)
NM_024740.2(ALG9):c.1765C>G (p.Pro589Ala)
NM_024740.2(ALG9):c.1768T>C (p.Phe590Leu)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1820G>A (p.Arg607Gln)
NM_024740.2(ALG9):c.222C>T (p.Leu74=)
NM_024740.2(ALG9):c.279C>T (p.Tyr93=)
NM_024740.2(ALG9):c.360T>C (p.His120=)
NM_024740.2(ALG9):c.482T>C (p.Val161Ala)
NM_024740.2(ALG9):c.596C>G (p.Thr199Ser)
NM_024740.2(ALG9):c.59C>A (p.Thr20Lys) rs1555158969
NM_024740.2(ALG9):c.691G>A (p.Ala231Thr)
NM_024740.2(ALG9):c.739A>G (p.Arg247Gly)
NM_024740.2(ALG9):c.793C>T (p.Pro265Ser)
NM_024740.2(ALG9):c.880G>A (p.Gly294Arg)
NM_024740.2(ALG9):c.888T>G (p.Asp296Glu)
NM_024740.2(ALG9):c.910T>C (p.Tyr304His)
NM_024740.2(ALG9):c.917A>G (p.Tyr306Cys)
NM_024740.2(ALG9):c.966C>T (p.Leu322=)
NM_024740.2(ALG9):c.98G>A (p.Ser33Asn) rs1964247669
NM_033087.4(ALG2):c.1005G>A (p.Met335Ile)
NM_033087.4(ALG2):c.1014G>C (p.Gln338His)
NM_033087.4(ALG2):c.1014G>T (p.Gln338His) rs2118998218
NM_033087.4(ALG2):c.1025T>C (p.Ile342Thr) rs2118998170
NM_033087.4(ALG2):c.1030G>C (p.Val344Leu) rs1588618702
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.1064A>G (p.His355Arg) rs1246812091
NM_033087.4(ALG2):c.1133G>A (p.Arg378His)
NM_033087.4(ALG2):c.1140_1141inv (p.Ser381Thr)
NM_033087.4(ALG2):c.1150G>A (p.Ala384Thr) rs1828724423
NM_033087.4(ALG2):c.1153A>G (p.Thr385Ala) rs1340353164
NM_033087.4(ALG2):c.1156_1162del (p.Met386fs) rs2118997596
NM_033087.4(ALG2):c.1180G>C (p.Val394Leu)
NM_033087.4(ALG2):c.1230T>A (p.Tyr410Ter) rs372356780
NM_033087.4(ALG2):c.1235C>A (p.Thr412Asn)
NM_033087.4(ALG2):c.132del (p.Cys45fs)
NM_033087.4(ALG2):c.145A>G (p.Ile49Val) rs759980920
NM_033087.4(ALG2):c.147C>G (p.Ile49Met)
NM_033087.4(ALG2):c.162C>A (p.Tyr54Ter) rs748281785
NM_033087.4(ALG2):c.16G>C (p.Gly6Arg) rs773062290
NM_033087.4(ALG2):c.179T>A (p.Phe60Tyr)
NM_033087.4(ALG2):c.179T>G (p.Phe60Cys) rs753517894
NM_033087.4(ALG2):c.17G>T (p.Gly6Val) rs180849348
NM_033087.4(ALG2):c.180C>A (p.Phe60Leu) rs777441526
NM_033087.4(ALG2):c.182C>T (p.Ala61Val) rs1588620643
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly) rs551744220
NM_033087.4(ALG2):c.212C>T (p.Ala71Val) rs551744220
NM_033087.4(ALG2):c.214G>A (p.Gly72Arg) rs745813432
NM_033087.4(ALG2):c.215G>T (p.Gly72Val) rs770738799
NM_033087.4(ALG2):c.217G>T (p.Asp73Tyr) rs375634924
NM_033087.4(ALG2):c.235C>G (p.Leu79Val)
NM_033087.4(ALG2):c.236T>C (p.Leu79Pro) rs1564222174
NM_033087.4(ALG2):c.243_251dup (p.Gly85_Ala86insGlyArgGly)
NM_033087.4(ALG2):c.251GCG[3] (p.Gly85dup) rs1050763044
NM_033087.4(ALG2):c.257CCG[3] (p.Ala87dup) rs759891618
NM_033087.4(ALG2):c.282G>A (p.Met94Ile)
NM_033087.4(ALG2):c.283G>A (p.Val95Ile)
NM_033087.4(ALG2):c.28G>A (p.Asp10Asn) rs769169852
NM_033087.4(ALG2):c.292G>A (p.Ala98Thr)
NM_033087.4(ALG2):c.308del (p.Phe103fs)
NM_033087.4(ALG2):c.314C>G (p.Ala105Gly) rs747781559
NM_033087.4(ALG2):c.316G>A (p.Asp106Asn)
NM_033087.4(ALG2):c.328G>C (p.Asp110His)
NM_033087.4(ALG2):c.32C>T (p.Ser11Leu) rs2119008980
NM_033087.4(ALG2):c.337G>A (p.Val113Met)
NM_033087.4(ALG2):c.347A>G (p.Gln116Arg) rs2119007195
NM_033087.4(ALG2):c.34G>C (p.Val12Leu)
NM_033087.4(ALG2):c.359G>A (p.Cys120Tyr)
NM_033087.4(ALG2):c.367G>A (p.Val123Met) rs1828745406
NM_033087.4(ALG2):c.382A>G (p.Arg128Gly)
NM_033087.4(ALG2):c.385CGG[1] (p.Arg130del)
NM_033087.4(ALG2):c.3G>A (p.Met1Ile)
NM_033087.4(ALG2):c.442_443del (p.Asp148fs) rs1828743411
NM_033087.4(ALG2):c.446C>A (p.Ser149Tyr) rs1350412580
NM_033087.4(ALG2):c.44C>A (p.Pro15Gln) rs757920586
NM_033087.4(ALG2):c.452T>C (p.Leu151Pro)
NM_033087.4(ALG2):c.489G>T (p.Glu163Asp) rs1486842886
NM_033087.4(ALG2):c.496A>G (p.Thr166Ala) rs1588619067
NM_033087.4(ALG2):c.507G>A (p.Met169Ile) rs779723777
NM_033087.4(ALG2):c.516C>A (p.Cys172Ter) rs1828741342
NM_033087.4(ALG2):c.519C>G (p.Ile173Met) rs1372608210
NM_033087.4(ALG2):c.550T>C (p.Phe184Leu)
NM_033087.4(ALG2):c.560C>T (p.Thr187Ile)
NM_033087.4(ALG2):c.578A>G (p.His193Arg) rs749336918
NM_033087.4(ALG2):c.590A>G (p.Asp197Gly)
NM_033087.4(ALG2):c.599A>C (p.Tyr200Ser) rs201271253
NM_033087.4(ALG2):c.5C>T (p.Ala2Val)
NM_033087.4(ALG2):c.638dup (p.Pro213_Glu214insTer) rs745635377
NM_033087.4(ALG2):c.676T>A (p.Phe226Ile) rs1828737709
NM_033087.4(ALG2):c.678C>G (p.Phe226Leu) rs866855594
NM_033087.4(ALG2):c.679C>A (p.Leu227Met) rs1308983324
NM_033087.4(ALG2):c.679C>G (p.Leu227Val) rs1308983324
NM_033087.4(ALG2):c.686T>A (p.Leu229His) rs1828737491
NM_033087.4(ALG2):c.691A>G (p.Ile231Val)
NM_033087.4(ALG2):c.733G>A (p.Glu245Lys) rs777262456
NM_033087.4(ALG2):c.746A>G (p.Gln249Arg)
NM_033087.4(ALG2):c.750_751delinsTT (p.Arg251Cys)
NM_033087.4(ALG2):c.760T>G (p.Leu254Val) rs62562374
NM_033087.4(ALG2):c.795C>G (p.Ile265Met) rs183416022
NM_033087.4(ALG2):c.814G>A (p.Glu272Lys)
NM_033087.4(ALG2):c.839A>G (p.His280Arg) rs2118998777
NM_033087.4(ALG2):c.841T>C (p.Tyr281His)
NM_033087.4(ALG2):c.89_114del (p.Glu30fs) rs775204090
NM_033087.4(ALG2):c.921_922del (p.Lys308fs)
NM_033087.4(ALG2):c.929C>A (p.Ser310Tyr)
NM_033087.4(ALG2):c.935T>A (p.Leu312His)
NM_033087.4(ALG2):c.945C>T (p.Cys315=) rs1828729293
NM_033087.4(ALG2):c.949T>C (p.Cys317Arg)
NM_033087.4(ALG2):c.959A>G (p.Tyr320Cys) rs1828728819
NM_033087.4(ALG2):c.962C>A (p.Thr321Lys) rs2118998416
NM_033087.4(ALG2):c.964C>A (p.Pro322Thr)
NM_033087.4(ALG2):c.971A>G (p.Asn324Ser)
NM_033087.4(ALG2):c.974A>G (p.Glu325Gly)
NM_033087.4(ALG2):c.97G>A (p.Val33Met) rs774607653
NM_033087.4(ALG2):c.97G>T (p.Val33Leu)
NM_052859.4(RFT1):c.*1117G>C rs1700966613
NM_052859.4(RFT1):c.*116C>G rs1474404507
NM_052859.4(RFT1):c.*1271A>C rs549553484
NM_052859.4(RFT1):c.*153C>T rs886058723
NM_052859.4(RFT1):c.*1693G>A rs146195364
NM_052859.4(RFT1):c.*1693G>T rs146195364
NM_052859.4(RFT1):c.*182G>C rs550906487
NM_052859.4(RFT1):c.*184G>C rs548020075
NM_052859.4(RFT1):c.*2076C>T rs138775144
NM_052859.4(RFT1):c.*2187A>G rs1249353870
NM_052859.4(RFT1):c.*2255A>C rs886058717
NM_052859.4(RFT1):c.*2350C>T rs886058716
NM_052859.4(RFT1):c.*2427G>A rs886058715
NM_052859.4(RFT1):c.*2428G>A rs1036043688
NM_052859.4(RFT1):c.*2787G>C rs886058714
NM_052859.4(RFT1):c.*295C>T rs1050584536
NM_052859.4(RFT1):c.*2992G>A rs1390396374
NM_052859.4(RFT1):c.*2997C>G rs886058712
NM_052859.4(RFT1):c.*3093C>T rs886058710
NM_052859.4(RFT1):c.*3191A>G rs886058709
NM_052859.4(RFT1):c.*405G>T rs886058722
NM_052859.4(RFT1):c.*423G>A rs1476531096
NM_052859.4(RFT1):c.*441C>A rs1700985095
NM_052859.4(RFT1):c.*609C>T rs886058721
NM_052859.4(RFT1):c.*861A>G rs886058720
NM_052859.4(RFT1):c.-16G>T rs766018631
NM_052859.4(RFT1):c.1052C>G (p.Ser351Cys)
NM_052859.4(RFT1):c.1063C>G (p.Leu355Val)
NM_052859.4(RFT1):c.1071C>G (p.Ile357Met)
NM_052859.4(RFT1):c.1080G>T (p.Gly360=) rs1189812930
NM_052859.4(RFT1):c.1085T>C (p.Met362Thr) rs1701389862
NM_052859.4(RFT1):c.109C>T (p.Arg37Cys) rs764833139
NM_052859.4(RFT1):c.10C>A (p.Gln4Lys) rs773959881
NM_052859.4(RFT1):c.1102+1G>T rs1559586345
NM_052859.4(RFT1):c.1102+4C>A rs150695725
NM_052859.4(RFT1):c.1102+4C>T rs150695725
NM_052859.4(RFT1):c.1124A>G (p.Tyr375Cys) rs1701249101
NM_052859.4(RFT1):c.1135G>A (p.Val379Ile) rs1364345554
NM_052859.4(RFT1):c.1138C>G (p.Leu380Val) rs575508213
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052859.4(RFT1):c.1156G>C (p.Gly386Arg) rs2107095147
NM_052859.4(RFT1):c.1162A>T (p.Thr388Ser) rs1701247296
NM_052859.4(RFT1):c.1163C>T (p.Thr388Ile)
NM_052859.4(RFT1):c.1175C>T (p.Thr392Ile)
NM_052859.4(RFT1):c.1186A>G (p.Met396Val) rs1701245763
NM_052859.4(RFT1):c.1195G>T (p.Glu399Ter) rs2107094933
NM_052859.4(RFT1):c.1198del (p.Glu400fs) rs748350251
NM_052859.4(RFT1):c.1208+3G>A
NM_052859.4(RFT1):c.1226T>C (p.Leu409Pro)
NM_052859.4(RFT1):c.1231del (p.Leu411fs) rs771934344
NM_052859.4(RFT1):c.1236CTC[1] (p.Ser414del)
NM_052859.4(RFT1):c.1261C>G (p.Leu421Val)
NM_052859.4(RFT1):c.1271G>A (p.Arg424His)
NM_052859.4(RFT1):c.1289G>A (p.Gly430Asp)
NM_052859.4(RFT1):c.1294A>G (p.Ile432Val)
NM_052859.4(RFT1):c.1316T>C (p.Met439Thr) rs749046487
NM_052859.4(RFT1):c.131T>C (p.Val44Ala) rs2107173212
NM_052859.4(RFT1):c.1348A>G (p.Ile450Val)
NM_052859.4(RFT1):c.1375C>T (p.His459Tyr)
NM_052859.4(RFT1):c.1381C>A (p.Pro461Thr)
NM_052859.4(RFT1):c.1399dup (p.Leu467fs) rs2107071266
NM_052859.4(RFT1):c.1413_1414delinsTT (p.Leu472Phe)
NM_052859.4(RFT1):c.1424T>G (p.Phe475Cys)
NM_052859.4(RFT1):c.1433G>C (p.Ser478Thr)
NM_052859.4(RFT1):c.1446dup (p.Ala483fs)
NM_052859.4(RFT1):c.1455G>A (p.Ser485=) rs767866491
NM_052859.4(RFT1):c.1458+5G>A
NM_052859.4(RFT1):c.1459-2A>G
NM_052859.4(RFT1):c.145G>A (p.Val49Ile)
NM_052859.4(RFT1):c.1480G>A (p.Gly494Ser) rs756497073
NM_052859.4(RFT1):c.148A>T (p.Arg50Ter) rs2107173109
NM_052859.4(RFT1):c.150-1G>C
NM_052859.4(RFT1):c.1510G>C (p.Val504Leu)
NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr) rs1701003868
NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)
NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser) rs1306859696
NM_052859.4(RFT1):c.154A>C (p.Thr52Pro) rs1702035840
NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)
NM_052859.4(RFT1):c.155C>A (p.Thr52Lys) rs764531159
NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp) rs369800703
NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)
NM_052859.4(RFT1):c.1595G>T (p.Gly532Val) rs1701001018
NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)
NM_052859.4(RFT1):c.173C>A (p.Thr58Asn)
NM_052859.4(RFT1):c.173C>T (p.Thr58Ile)
NM_052859.4(RFT1):c.224C>T (p.Thr75Ile) rs1702032211
NM_052859.4(RFT1):c.230G>A (p.Arg77Gln)
NM_052859.4(RFT1):c.240C>G (p.Ser80Arg) rs2107168045
NM_052859.4(RFT1):c.266+1G>A rs371764423
NM_052859.4(RFT1):c.272C>T (p.Pro91Leu)
NM_052859.4(RFT1):c.275del (p.Leu92fs)
NM_052859.4(RFT1):c.292T>A (p.Leu98Ile)
NM_052859.4(RFT1):c.335A>C (p.Asp112Ala)
NM_052859.4(RFT1):c.342TGT[1] (p.Val116del) rs779809846
NM_052859.4(RFT1):c.343G>A (p.Val115Ile)
NM_052859.4(RFT1):c.34C>G (p.Arg12Gly)
NM_052859.4(RFT1):c.34C>T (p.Arg12Trp)
NM_052859.4(RFT1):c.368T>C (p.Val123Ala)
NM_052859.4(RFT1):c.374T>C (p.Leu125Pro)
NM_052859.4(RFT1):c.377T>C (p.Phe126Ser) rs1701996247
NM_052859.4(RFT1):c.3G>A (p.Met1Ile) rs2107183535
NM_052859.4(RFT1):c.421G>T (p.Val141Phe) rs2107164186
NM_052859.4(RFT1):c.451_456dup (p.Leu151_Lys152dup) rs750344787
NM_052859.4(RFT1):c.456+3C>G rs1296088581
NM_052859.4(RFT1):c.456G>C (p.Lys152Asn)
NM_052859.4(RFT1):c.463G>A (p.Ala155Thr)
NM_052859.4(RFT1):c.465A>C (p.Ala155=) rs886058727
NM_052859.4(RFT1):c.477G>C (p.Ser159=) rs750521781
NM_052859.4(RFT1):c.490A>G (p.Ser164Gly) rs2107162275
NM_052859.4(RFT1):c.49G>A (p.Gly17Ser)
NM_052859.4(RFT1):c.49G>C (p.Gly17Arg)
NM_052859.4(RFT1):c.4G>C (p.Gly2Arg)
NM_052859.4(RFT1):c.511G>C (p.Val171Leu)
NM_052859.4(RFT1):c.519G>A (p.Trp173Ter) rs759320646
NM_052859.4(RFT1):c.519G>C (p.Trp173Cys)
NM_052859.4(RFT1):c.558G>T (p.Gln186His)
NM_052859.4(RFT1):c.559-13dup rs1277722803
NM_052859.4(RFT1):c.566A>G (p.Tyr189Cys)
NM_052859.4(RFT1):c.56T>C (p.Leu19Pro) rs1575509225
NM_052859.4(RFT1):c.56T>G (p.Leu19Arg)
NM_052859.4(RFT1):c.614T>G (p.Leu205Arg) rs1357940149
NM_052859.4(RFT1):c.620C>G (p.Ser207Cys)
NM_052859.4(RFT1):c.623C>T (p.Pro208Leu) rs2107157423
NM_052859.4(RFT1):c.63+3A>G
NM_052859.4(RFT1):c.63+4C>G rs2107183082
NM_052859.4(RFT1):c.631A>G (p.Thr211Ala)
NM_052859.4(RFT1):c.634A>G (p.Lys212Glu)
NM_052859.4(RFT1):c.64-3T>C
NM_052859.4(RFT1):c.646C>T (p.Leu216Phe)
NM_052859.4(RFT1):c.649C>T (p.Pro217Ser) rs2107157216
NM_052859.4(RFT1):c.658A>G (p.Arg220Gly)
NM_052859.4(RFT1):c.662del (p.Ile221fs) rs2107157163
NM_052859.4(RFT1):c.673T>A (p.Leu225Ile)
NM_052859.4(RFT1):c.696+11C>T rs886058725
NM_052859.4(RFT1):c.696+5_696+8del rs759775801
NM_052859.4(RFT1):c.710G>A (p.Trp237Ter) rs1408405816
NM_052859.4(RFT1):c.730T>A (p.Trp244Arg)
NM_052859.4(RFT1):c.743_746del (p.Lys248fs) rs773274468
NM_052859.4(RFT1):c.749C>T (p.Ser250Phe) rs1575494329
NM_052859.4(RFT1):c.74G>A (p.Arg25Gln)
NM_052859.4(RFT1):c.74G>T (p.Arg25Leu) rs780107020
NM_052859.4(RFT1):c.760C>T (p.Gln254Ter) rs185019792
NM_052859.4(RFT1):c.775+3A>G
NM_052859.4(RFT1):c.7A>G (p.Ser3Gly) rs1201237484
NM_052859.4(RFT1):c.827-6T>G rs753486430
NM_052859.4(RFT1):c.840A>G (p.Ile280Met)
NM_052859.4(RFT1):c.886A>G (p.Ile296Val)
NM_052859.4(RFT1):c.904A>G (p.Ile302Val)
NM_052859.4(RFT1):c.905del (p.Ile302fs) rs2107115317
NM_052859.4(RFT1):c.946C>T (p.Leu316Phe) rs2107115119
NM_052859.4(RFT1):c.957+1G>A
NM_052859.4(RFT1):c.957G>C (p.Gln319His) rs886058724
NM_052859.4(RFT1):c.973G>A (p.Ala325Thr)
NM_052859.4(RFT1):c.979G>A (p.Ala327Thr) rs745493847
NM_052859.4(RFT1):c.988G>C (p.Glu330Gln) rs2107109292
NM_052859.4(RFT1):c.997C>T (p.Leu333Phe)
NM_138459.5(NUS1):c.105G>T (p.Trp35Cys)
NM_138459.5(NUS1):c.108C>G (p.Ile36Met)
NM_138459.5(NUS1):c.119G>A (p.Cys40Tyr)
NM_138459.5(NUS1):c.123C>G (p.Cys41Trp) rs914678907
NM_138459.5(NUS1):c.124C>T (p.Arg42Cys)
NM_138459.5(NUS1):c.125G>C (p.Arg42Pro)
NM_138459.5(NUS1):c.127G>A (p.Ala43Thr) rs1327892878
NM_138459.5(NUS1):c.130G>A (p.Ala44Thr)
NM_138459.5(NUS1):c.133T>C (p.Ser45Pro)
NM_138459.5(NUS1):c.136G>C (p.Ala46Pro)
NM_138459.5(NUS1):c.158G>A (p.Gly53Asp)
NM_138459.5(NUS1):c.169C>T (p.Arg57Cys)
NM_138459.5(NUS1):c.170G>T (p.Arg57Leu)
NM_138459.5(NUS1):c.175C>T (p.Pro59Ser) rs764639190
NM_138459.5(NUS1):c.178C>G (p.Pro60Ala)
NM_138459.5(NUS1):c.178C>T (p.Pro60Ser)
NM_138459.5(NUS1):c.17_40del (p.Glu6_His13del)
NM_138459.5(NUS1):c.18G>T (p.Glu6Asp)
NM_138459.5(NUS1):c.197G>A (p.Arg66His)
NM_138459.5(NUS1):c.198_199delinsAT (p.Arg67Cys) rs1562172820
NM_138459.5(NUS1):c.199C>T (p.Arg67Cys)
NM_138459.5(NUS1):c.200G>C (p.Arg67Pro)
NM_138459.5(NUS1):c.209G>A (p.Arg70Gln)
NM_138459.5(NUS1):c.214C>A (p.Pro72Thr) rs1460197813
NM_138459.5(NUS1):c.214C>T (p.Pro72Ser)
NM_138459.5(NUS1):c.215C>T (p.Pro72Leu)
NM_138459.5(NUS1):c.220G>T (p.Gly74Trp)
NM_138459.5(NUS1):c.221G>A (p.Gly74Glu)
NM_138459.5(NUS1):c.223G>T (p.Gly75Trp)
NM_138459.5(NUS1):c.226T>G (p.Ser76Ala)
NM_138459.5(NUS1):c.22G>T (p.Val8Leu)
NM_138459.5(NUS1):c.236C>T (p.Ala79Val)
NM_138459.5(NUS1):c.254T>A (p.Met85Lys)
NM_138459.5(NUS1):c.274C>A (p.Arg92Ser)
NM_138459.5(NUS1):c.274C>G (p.Arg92Gly)
NM_138459.5(NUS1):c.277T>A (p.Ser93Thr)
NM_138459.5(NUS1):c.277T>G (p.Ser93Ala)
NM_138459.5(NUS1):c.28C>T (p.Arg10Trp)
NM_138459.5(NUS1):c.299A>C (p.His100Pro)
NM_138459.5(NUS1):c.29_52dup (p.Cys17_Leu18insArgValLeuHisAlaLeuLeuCys)
NM_138459.5(NUS1):c.301A>G (p.Met101Val)
NM_138459.5(NUS1):c.302T>C (p.Met101Thr)
NM_138459.5(NUS1):c.304G>A (p.Gly102Ser)
NM_138459.5(NUS1):c.307C>G (p.Leu103Val)
NM_138459.5(NUS1):c.313A>G (p.Ile105Val)
NM_138459.5(NUS1):c.329A>G (p.Gln110Arg)
NM_138459.5(NUS1):c.346G>C (p.Asp116His)
NM_138459.5(NUS1):c.352G>T (p.Ala118Ser)
NM_138459.5(NUS1):c.353C>A (p.Ala118Glu) rs2114674826
NM_138459.5(NUS1):c.35T>C (p.Leu12Pro)
NM_138459.5(NUS1):c.370T>A (p.Cys124Ser)
NM_138459.5(NUS1):c.383G>A (p.Gly128Asp)
NM_138459.5(NUS1):c.385A>G (p.Ile129Val)
NM_138459.5(NUS1):c.3G>A (p.Met1Ile)
NM_138459.5(NUS1):c.413A>G (p.Gln138Arg) rs2114674884
NM_138459.5(NUS1):c.415G>A (p.Gly139Ser)
NM_138459.5(NUS1):c.416G>A (p.Gly139Asp) rs2114686687
NM_138459.5(NUS1):c.418A>G (p.Ile140Val)
NM_138459.5(NUS1):c.420T>G (p.Ile140Met) rs1263100166
NM_138459.5(NUS1):c.422T>G (p.Phe141Cys)
NM_138459.5(NUS1):c.437C>A (p.Ser146Tyr)
NM_138459.5(NUS1):c.446T>C (p.Met149Thr)
NM_138459.5(NUS1):c.475C>T (p.Leu159Phe)
NM_138459.5(NUS1):c.498A>T (p.Lys166Asn) rs1392457084
NM_138459.5(NUS1):c.49T>C (p.Cys17Arg)
NM_138459.5(NUS1):c.500A>G (p.Tyr167Cys)
NM_138459.5(NUS1):c.502T>C (p.Ser168Pro)
NM_138459.5(NUS1):c.502T>G (p.Ser168Ala)
NM_138459.5(NUS1):c.508G>A (p.Glu170Lys)
NM_138459.5(NUS1):c.521G>A (p.Ser174Asn)
NM_138459.5(NUS1):c.523A>G (p.Asn175Asp) rs28362518
NM_138459.5(NUS1):c.523A>T (p.Asn175Tyr) rs28362518
NM_138459.5(NUS1):c.524A>G (p.Asn175Ser) rs1438675724
NM_138459.5(NUS1):c.52C>G (p.Leu18Val) rs1772962465
NM_138459.5(NUS1):c.540A>G (p.Gln180=)
NM_138459.5(NUS1):c.541+5G>T
NM_138459.5(NUS1):c.548A>G (p.Asn183Ser) rs2114687377
NM_138459.5(NUS1):c.554A>T (p.His185Leu)
NM_138459.5(NUS1):c.56A>T (p.His19Leu)
NM_138459.5(NUS1):c.577C>G (p.Pro193Ala)
NM_138459.5(NUS1):c.57C>G (p.His19Gln)
NM_138459.5(NUS1):c.580G>A (p.Glu194Lys)
NM_138459.5(NUS1):c.596A>C (p.Asp199Ala) rs765038821
NM_138459.5(NUS1):c.596A>G (p.Asp199Gly)
NM_138459.5(NUS1):c.598A>G (p.Ile200Val)
NM_138459.5(NUS1):c.599T>C (p.Ile200Thr)
NM_138459.5(NUS1):c.59G>C (p.Arg20Pro)
NM_138459.5(NUS1):c.601G>T (p.Val201Leu)
NM_138459.5(NUS1):c.613C>G (p.Gln205Glu) rs2114687441
NM_138459.5(NUS1):c.627G>T (p.Gln209His)
NM_138459.5(NUS1):c.634G>T (p.Ala212Ser)
NM_138459.5(NUS1):c.646A>G (p.Lys216Glu)
NM_138459.5(NUS1):c.650G>T (p.Arg217Ile) rs375663235
NM_138459.5(NUS1):c.671A>G (p.Asp224Gly) rs2114687510
NM_138459.5(NUS1):c.679G>C (p.Ala227Pro)
NM_138459.5(NUS1):c.684T>A (p.Ser228Arg)
NM_138459.5(NUS1):c.68C>T (p.Thr23Ile)
NM_138459.5(NUS1):c.68CCT[1] (p.Ser24del)
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_138459.5(NUS1):c.745A>G (p.Ser249Gly) rs2114693915
NM_138459.5(NUS1):c.758T>C (p.Phe253Ser)
NM_138459.5(NUS1):c.76C>T (p.Leu26Phe)
NM_138459.5(NUS1):c.788T>C (p.Ile263Thr)
NM_138459.5(NUS1):c.791+6T>C
NM_138459.5(NUS1):c.792-3C>G
NM_138459.5(NUS1):c.7G>A (p.Gly3Arg) rs1772960680
NM_138459.5(NUS1):c.803C>A (p.Ser268Tyr) rs1554202852
NM_138459.5(NUS1):c.842T>C (p.Leu281Pro)
NM_138459.5(NUS1):c.844C>G (p.Arg282Gly)
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138459.5(NUS1):c.875G>A (p.Gly292Glu)
NM_138459.5(NUS1):c.881A>G (p.Ter294Trp) rs2114696027
NM_138459.5(NUS1):c.93_101delinsAGCCAGGAACTGGAT (p.Thr32_Asn34delinsAlaArgAsnTrpIle)
NM_138459.5(NUS1):c.94A>G (p.Thr32Ala)
NM_138459.5(NUS1):c.95C>T (p.Thr32Ile)
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
NM_152713.5(STT3A):c.415A>C (p.Lys139Gln) rs1939729667
NM_153741.2(DPM3):c.104A>G (p.Gln35Arg)
NM_153741.2(DPM3):c.11T>C (p.Leu4Ser)
NM_153741.2(DPM3):c.176A>C (p.Tyr59Ser) rs1055439022
NM_153741.2(DPM3):c.184G>C (p.Ala62Pro) rs2102491677
NM_153741.2(DPM3):c.185C>T (p.Ala62Val) rs1553190791
NM_153741.2(DPM3):c.193C>T (p.His65Tyr)
NM_153741.2(DPM3):c.19T>C (p.Trp7Arg) rs1664705696
NM_153741.2(DPM3):c.215G>A (p.Arg72His)
NM_153741.2(DPM3):c.21G>C (p.Trp7Cys)
NM_153741.2(DPM3):c.257C>A (p.Ala86Asp) rs752119871
NM_153741.2(DPM3):c.28G>C (p.Gly10Arg) rs367584459
NM_153741.2(DPM3):c.29G>A (p.Gly10Glu) rs2102491894
NM_153741.2(DPM3):c.44G>T (p.Gly15Val) rs372215837
NM_153741.2(DPM3):c.59C>T (p.Ala20Val)
NM_153741.2(DPM3):c.95T>C (p.Leu32Ser) rs959102245
NM_178862.3(STT3B):c.1014G>T (p.Gln338His)
NM_178862.3(STT3B):c.1073C>T (p.Ser358Leu)
NM_178862.3(STT3B):c.1102G>T (p.Val368Phe)
NM_178862.3(STT3B):c.11C>T (p.Pro4Leu) rs1250170448
NM_178862.3(STT3B):c.1263T>G (p.Leu421=)
NM_178862.3(STT3B):c.13T>C (p.Ser5Pro)
NM_178862.3(STT3B):c.1562C>T (p.Ala521Val)
NM_178862.3(STT3B):c.1612A>G (p.Ile538Val)
NM_178862.3(STT3B):c.1837G>A (p.Gly613Arg)
NM_178862.3(STT3B):c.1948A>G (p.Arg650Gly) rs755361919
NM_178862.3(STT3B):c.2071C>T (p.Arg691Trp)
NM_178862.3(STT3B):c.2072G>A (p.Arg691Gln) rs949533229
NM_178862.3(STT3B):c.2349C>A (p.His783Gln)
NM_178862.3(STT3B):c.2378A>C (p.Lys793Thr)
NM_178862.3(STT3B):c.307G>T (p.Asp103Tyr) rs2125430351
NM_178862.3(STT3B):c.32A>G (p.His11Arg)
NM_178862.3(STT3B):c.387A>C (p.Arg129Ser)
NM_178862.3(STT3B):c.448G>T (p.Ala150Ser)
NM_178862.3(STT3B):c.496A>G (p.Ile166Val)
NM_178862.3(STT3B):c.601G>A (p.Ala201Thr)
NM_178862.3(STT3B):c.778-3T>C
NM_178862.3(STT3B):c.812A>G (p.Asn271Ser)
NM_178862.3(STT3B):c.887C>G (p.Thr296Ser) rs375479861
NM_178862.3(STT3B):c.976+5G>T
NM_201400.4(EEF2KMT):c.*885G>A rs780078713

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