NM_001370298.3(FGD4):c.*3920del
|
rs144034303
|
0.09005
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr)
|
rs112507765
|
0.00297
|
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)
|
rs145115430
|
0.00213
|
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His)
|
rs80359890
|
0.00205
|
NM_181882.3(PRX):c.445G>A (p.Ala149Thr)
|
rs142436391
|
0.00193
|
NM_181882.3(PRX):c.3373G>A (p.Gly1125Ser)
|
rs148939995
|
0.00191
|
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys)
|
rs147587689
|
0.00185
|
NM_016156.6(MTMR2):c.1757G>A (p.Arg586Gln)
|
rs61735576
|
0.00175
|
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His)
|
rs143032801
|
0.00173
|
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr)
|
rs138160928
|
0.00168
|
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=)
|
rs140985600
|
0.00166
|
NM_001370298.3(FGD4):c.666A>T (p.Ala222=)
|
rs139357821
|
0.00161
|
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr)
|
rs145871479
|
0.00140
|
NM_181882.3(PRX):c.719G>A (p.Arg240Gln)
|
rs77917609
|
0.00140
|
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val)
|
rs142762689
|
0.00138
|
NM_181882.3(PRX):c.3838G>C (p.Glu1280Gln)
|
rs146205352
|
0.00135
|
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met)
|
rs61753359
|
0.00131
|
NM_014845.6(FIG4):c.446+9G>A
|
rs190287033
|
0.00128
|
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr)
|
rs10066882
|
0.00128
|
NM_024577.4(SH3TC2):c.1195T>C (p.Phe399Leu)
|
rs144764160
|
0.00118
|
NM_024577.4(SH3TC2):c.1178C>T (p.Ala393Val)
|
rs148321018
|
0.00117
|
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro)
|
rs146162276
|
0.00114
|
NM_181882.3(PRX):c.580C>T (p.Arg194Cys)
|
rs45521038
|
0.00109
|
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln)
|
rs139192433
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_006096.4(NDRG1):c.789G>A (p.Ser263=)
|
rs61755062
|
0.00102
|
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly)
|
rs148600818
|
0.00099
|
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser)
|
rs147826200
|
0.00093
|
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu)
|
rs200967041
|
0.00088
|
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=)
|
rs375970910
|
0.00083
|
NM_181882.3(PRX):c.2494G>C (p.Val832Leu)
|
rs116139153
|
0.00077
|
NM_181882.3(PRX):c.2094A>G (p.Glu698=)
|
rs1396877491
|
0.00075
|
NM_024577.4(SH3TC2):c.3644G>A (p.Arg1215His)
|
rs145390629
|
0.00074
|
NM_030962.4(SBF2):c.3969G>A (p.Ser1323=)
|
rs77833016
|
0.00067
|
NM_181882.3(PRX):c.3145G>A (p.Gly1049Ser)
|
rs186086914
|
0.00067
|
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala)
|
rs10077543
|
0.00063
|
NM_181882.3(PRX):c.499C>T (p.Arg167Cys)
|
rs10425452
|
0.00062
|
NM_006096.4(NDRG1):c.389+8C>T
|
rs375532877
|
0.00060
|
NM_030962.4(SBF2):c.4947G>A (p.Leu1649=)
|
rs149659495
|
0.00059
|
NM_014845.6(FIG4):c.2377-18T>C
|
rs560214203
|
0.00056
|
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn)
|
rs141894081
|
0.00054
|
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys)
|
rs146572467
|
0.00053
|
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=)
|
rs530810802
|
0.00053
|
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val)
|
rs142451273
|
0.00051
|
NM_030962.4(SBF2):c.5037C>T (p.Arg1679=)
|
rs200784979
|
0.00048
|
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln)
|
rs140307699
|
0.00047
|
NM_181882.3(PRX):c.1651G>A (p.Val551Met)
|
rs61733448
|
0.00047
|
NM_024577.4(SH3TC2):c.257A>G (p.Gln86Arg)
|
rs138429238
|
0.00046
|
NM_030962.4(SBF2):c.4054A>G (p.Ser1352Gly)
|
rs201951073
|
0.00046
|
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser)
|
rs146230559
|
0.00046
|
NM_181882.3(PRX):c.2832T>C (p.Ala944=)
|
rs145226687
|
0.00046
|
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr)
|
rs149244124
|
0.00045
|
NM_181882.3(PRX):c.966G>T (p.Val322=)
|
rs139544245
|
0.00042
|
NM_006096.4(NDRG1):c.944-13C>T
|
rs753312340
|
0.00039
|
NM_030962.4(SBF2):c.1965G>A (p.Thr655=)
|
rs143732754
|
0.00039
|
NM_030962.4(SBF2):c.291G>A (p.Lys97=)
|
rs150056369
|
0.00039
|
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=)
|
rs145345364
|
0.00038
|
NM_001370298.3(FGD4):c.1440T>C (p.His480=)
|
rs150223260
|
0.00037
|
NM_024577.4(SH3TC2):c.1522G>A (p.Val508Met)
|
rs148155691
|
0.00036
|
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln)
|
rs751621364
|
0.00036
|
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
|
rs141783628
|
0.00036
|
NM_181882.3(PRX):c.540G>A (p.Pro180=)
|
rs371243093
|
0.00036
|
NM_024577.4(SH3TC2):c.1172T>G (p.Leu391Arg)
|
rs141544031
|
0.00035
|
NM_181882.3(PRX):c.3708G>A (p.Ala1236=)
|
rs202119177
|
0.00035
|
NM_024577.4(SH3TC2):c.2306A>G (p.Glu769Gly)
|
rs151317042
|
0.00034
|
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=)
|
rs145528276
|
0.00034
|
NM_181882.3(PRX):c.2817G>A (p.Ser939=)
|
rs112544351
|
0.00034
|
NM_181882.3(PRX):c.3324G>A (p.Glu1108=)
|
rs111964746
|
0.00034
|
NM_181882.3(PRX):c.3960C>T (p.Ala1320=)
|
rs149626915
|
0.00034
|
NM_030962.4(SBF2):c.705T>C (p.Ser235=)
|
rs143209062
|
0.00033
|
NM_014845.6(FIG4):c.2459+14A>C
|
rs200078556
|
0.00032
|
NM_024577.4(SH3TC2):c.794C>T (p.Ser265Phe)
|
rs149873249
|
0.00032
|
NM_006096.4(NDRG1):c.808-12C>T
|
rs368230609
|
0.00031
|
NM_030962.4(SBF2):c.1509A>G (p.Glu503=)
|
rs143773975
|
0.00030
|
NM_030962.4(SBF2):c.3819C>T (p.Ser1273=)
|
rs145351367
|
0.00030
|
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn)
|
rs138048706
|
0.00029
|
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser)
|
rs144963732
|
0.00028
|
NM_030962.4(SBF2):c.1623G>A (p.Thr541=)
|
rs184849947
|
0.00028
|
NM_030962.4(SBF2):c.513+18A>T
|
rs201201683
|
0.00027
|
NM_181882.3(PRX):c.2106C>T (p.Pro702=)
|
rs183461864
|
0.00027
|
NM_014845.6(FIG4):c.1751-16A>G
|
rs200778905
|
0.00026
|
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=)
|
rs140829706
|
0.00026
|
NM_030962.4(SBF2):c.4515G>A (p.Val1505=)
|
rs144935862
|
0.00025
|
NM_001370298.3(FGD4):c.890G>A (p.Gly297Asp)
|
rs201826412
|
0.00024
|
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=)
|
rs139898175
|
0.00023
|
NM_014845.6(FIG4):c.42G>A (p.Lys14=)
|
rs552856153
|
0.00022
|
NM_024577.4(SH3TC2):c.1240G>A (p.Val414Met)
|
rs138303846
|
0.00022
|
NM_181882.3(PRX):c.3306C>T (p.Val1102=)
|
rs774667067
|
0.00022
|
NM_181882.3(PRX):c.993G>A (p.Pro331=)
|
rs146323928
|
0.00022
|
NM_001370298.3(FGD4):c.1923-7A>G
|
rs200542541
|
0.00021
|
NM_001370298.3(FGD4):c.2193C>T (p.Ser731=)
|
rs147136365
|
0.00021
|
NM_014845.6(FIG4):c.1479C>G (p.Thr493=)
|
rs144072304
|
0.00021
|
NM_016156.6(MTMR2):c.1353A>G (p.Lys451=)
|
rs114336434
|
0.00021
|
NM_030962.4(SBF2):c.56-8A>C
|
rs369979138
|
0.00021
|
NM_181882.3(PRX):c.2190C>G (p.Pro730=)
|
rs1336238948
|
0.00021
|
NM_001370298.3(FGD4):c.2625T>C (p.Ala875=)
|
rs200144770
|
0.00020
|
NM_030962.4(SBF2):c.3652+18A>C
|
rs569103394
|
0.00020
|
NM_016156.6(MTMR2):c.1106T>C (p.Ile369Thr)
|
rs200083635
|
0.00019
|
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=)
|
rs182893450
|
0.00019
|
NM_030962.4(SBF2):c.4699-9C>A
|
rs376668219
|
0.00019
|
NM_030962.4(SBF2):c.4799C>T (p.Thr1600Ile)
|
rs183468503
|
0.00019
|
NM_030962.4(SBF2):c.651A>G (p.Ala217=)
|
rs200293270
|
0.00019
|
NM_014845.6(FIG4):c.2235C>T (p.Ala745=)
|
rs144830399
|
0.00018
|
NM_024577.4(SH3TC2):c.1788T>A (p.Gly596=)
|
rs141893132
|
0.00018
|
NM_024577.4(SH3TC2):c.2715C>G (p.Leu905=)
|
rs141789598
|
0.00018
|
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=)
|
rs148793803
|
0.00018
|
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp)
|
rs201337455
|
0.00018
|
NM_181882.3(PRX):c.2199T>C (p.Pro733=)
|
rs1277285038
|
0.00018
|
NM_181882.3(PRX):c.2091T>C (p.Pro697=)
|
rs1390777490
|
0.00017
|
NM_181882.3(PRX):c.3549C>T (p.Tyr1183=)
|
rs367876251
|
0.00017
|
NM_001370298.3(FGD4):c.1404+10C>T
|
rs374656859
|
0.00016
|
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly)
|
rs575937427
|
0.00016
|
NM_030962.4(SBF2):c.2319G>A (p.Ala773=)
|
rs201547070
|
0.00016
|
NM_030962.4(SBF2):c.3843A>G (p.Thr1281=)
|
rs147597665
|
0.00016
|
NM_181882.3(PRX):c.1578G>A (p.Ser526=)
|
rs567690884
|
0.00016
|
NM_024577.4(SH3TC2):c.831G>A (p.Thr277=)
|
rs750308484
|
0.00015
|
NM_030962.4(SBF2):c.1812C>T (p.Asp604=)
|
rs765658939
|
0.00015
|
NM_181882.3(PRX):c.3588A>G (p.Gly1196=)
|
rs372745419
|
0.00015
|
NM_001370298.3(FGD4):c.1046A>G (p.Asn349Ser)
|
rs147969494
|
0.00014
|
NM_006096.4(NDRG1):c.1134G>A (p.Ser378=)
|
rs750369546
|
0.00014
|
NM_006096.4(NDRG1):c.393G>A (p.Leu131=)
|
rs149767690
|
0.00014
|
NM_024577.4(SH3TC2):c.1329G>A (p.Glu443=)
|
rs150135768
|
0.00014
|
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln)
|
rs369977771
|
0.00014
|
NM_030962.4(SBF2):c.3754A>T (p.Ser1252Cys)
|
rs139967004
|
0.00014
|
NM_181882.3(PRX):c.1026A>C (p.Ala342=)
|
rs150772010
|
0.00014
|
NM_006096.4(NDRG1):c.528C>T (p.Ala176=)
|
rs191237702
|
0.00013
|
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln)
|
rs142971473
|
0.00013
|
NM_024577.4(SH3TC2):c.3049G>A (p.Ala1017Thr)
|
rs186029710
|
0.00013
|
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp)
|
rs149762843
|
0.00013
|
NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg)
|
rs187975909
|
0.00013
|
NM_024577.4(SH3TC2):c.836A>G (p.Tyr279Cys)
|
rs200215156
|
0.00013
|
NM_181882.3(PRX):c.794G>T (p.Gly265Val)
|
rs374837022
|
0.00013
|
NM_014845.6(FIG4):c.1923G>A (p.Lys641=)
|
rs140078026
|
0.00012
|
NM_016156.6(MTMR2):c.33C>T (p.Gly11=)
|
rs777455436
|
0.00012
|
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser)
|
rs200819602
|
0.00012
|
NM_030962.4(SBF2):c.2536+13C>A
|
rs369035547
|
0.00012
|
NM_181882.3(PRX):c.2229C>T (p.Pro743=)
|
rs144975214
|
0.00012
|
NM_006096.4(NDRG1):c.285C>T (p.Asp95=)
|
rs777855380
|
0.00011
|
NM_006096.4(NDRG1):c.660C>A (p.Asn220Lys)
|
rs143549909
|
0.00011
|
NM_014845.6(FIG4):c.1305G>C (p.Val435=)
|
rs145227623
|
0.00011
|
NM_014845.6(FIG4):c.1863C>A (p.Thr621=)
|
rs201744761
|
0.00011
|
NM_016156.6(MTMR2):c.1303T>C (p.Leu435=)
|
rs767737380
|
0.00011
|
NM_016156.6(MTMR2):c.624A>G (p.Leu208=)
|
rs979063255
|
0.00011
|
NM_024577.4(SH3TC2):c.1097C>G (p.Thr366Ser)
|
rs769250455
|
0.00011
|
NM_024577.4(SH3TC2):c.1326G>A (p.Pro442=)
|
rs138967360
|
0.00011
|
NM_024577.4(SH3TC2):c.1853A>G (p.Tyr618Cys)
|
rs772780166
|
0.00011
|
NM_024577.4(SH3TC2):c.2286C>T (p.Ile762=)
|
rs766340169
|
0.00011
|
NM_030962.4(SBF2):c.4095C>T (p.Ile1365=)
|
rs142904756
|
0.00011
|
NM_181882.3(PRX):c.1129G>T (p.Val377Leu)
|
rs754081921
|
0.00011
|
NM_181882.3(PRX):c.2047G>A (p.Val683Met)
|
rs575075163
|
0.00011
|
NM_181882.3(PRX):c.2943G>A (p.Gly981=)
|
rs142228732
|
0.00011
|
NM_181882.3(PRX):c.3804C>T (p.Ala1268=)
|
rs553825184
|
0.00011
|
NM_001370298.3(FGD4):c.2220T>C (p.Asp740=)
|
rs1031324844
|
0.00010
|
NM_006096.4(NDRG1):c.1053A>C (p.Arg351=)
|
rs370153201
|
0.00010
|
NM_014845.6(FIG4):c.102G>A (p.Thr34=)
|
rs145711919
|
0.00010
|
NM_014845.6(FIG4):c.2376+9G>A
|
rs374450869
|
0.00010
|
NM_016156.6(MTMR2):c.1594-20C>A
|
rs201996397
|
0.00010
|
NM_024577.4(SH3TC2):c.1106G>A (p.Arg369His)
|
rs551803988
|
0.00010
|
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys)
|
rs747938069
|
0.00010
|
NM_024577.4(SH3TC2):c.529+8T>A
|
rs780594631
|
0.00010
|
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=)
|
rs779808918
|
0.00010
|
NM_030962.4(SBF2):c.3056A>T (p.Gln1019Leu)
|
rs201964421
|
0.00010
|
NM_030962.4(SBF2):c.4809C>T (p.His1603=)
|
rs199670153
|
0.00010
|
NM_181882.3(PRX):c.2044G>A (p.Glu682Lys)
|
rs761277865
|
0.00010
|
NM_001370298.3(FGD4):c.1543+13T>C
|
rs762177862
|
0.00009
|
NM_001370298.3(FGD4):c.2517C>T (p.Ser839=)
|
rs777555137
|
0.00009
|
NM_006096.4(NDRG1):c.663C>T (p.Pro221=)
|
rs377225752
|
0.00009
|
NM_014845.6(FIG4):c.2459+7T>G
|
rs575271308
|
0.00009
|
NM_014845.6(FIG4):c.717A>G (p.Lys239=)
|
rs750904354
|
0.00009
|
NM_016156.6(MTMR2):c.279T>C (p.Tyr93=)
|
rs372937811
|
0.00009
|
NM_024577.4(SH3TC2):c.1002-7G>A
|
rs752528409
|
0.00009
|
NM_024577.4(SH3TC2):c.1861C>T (p.Arg621Cys)
|
rs201403149
|
0.00009
|
NM_024577.4(SH3TC2):c.197T>C (p.Val66Ala)
|
rs1485527369
|
0.00009
|
NM_024577.4(SH3TC2):c.2310C>T (p.His770=)
|
rs142462049
|
0.00009
|
NM_024577.4(SH3TC2):c.280-5C>T
|
rs201937366
|
0.00009
|
NM_024577.4(SH3TC2):c.3166C>T (p.Leu1056Phe)
|
rs201805333
|
0.00009
|
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=)
|
rs1030348232
|
0.00009
|
NM_024577.4(SH3TC2):c.3836G>A (p.Arg1279Gln)
|
rs142774907
|
0.00009
|
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=)
|
rs147013935
|
0.00009
|
NM_030962.4(SBF2):c.1296+13T>C
|
rs376685939
|
0.00009
|
NM_030962.4(SBF2):c.2085G>A (p.Pro695=)
|
rs148241076
|
0.00009
|
NM_030962.4(SBF2):c.280-5T>C
|
rs368118378
|
0.00009
|
NM_030962.4(SBF2):c.3111-9G>A
|
rs200045139
|
0.00009
|
NM_030962.4(SBF2):c.4614A>G (p.Gly1538=)
|
rs750092509
|
0.00009
|
NM_030962.4(SBF2):c.5037+12A>G
|
rs372500490
|
0.00009
|
NM_030962.4(SBF2):c.5484C>T (p.Cys1828=)
|
rs149571145
|
0.00009
|
NM_030962.4(SBF2):c.5526C>A (p.Ile1842=)
|
rs376788960
|
0.00009
|
NM_181882.3(PRX):c.2265G>A (p.Leu755=)
|
rs370753668
|
0.00009
|
NM_181882.3(PRX):c.3891G>A (p.Glu1297=)
|
rs775809057
|
0.00009
|
NM_001370298.3(FGD4):c.1953+20C>T
|
rs773153085
|
0.00008
|
NM_001370298.3(FGD4):c.603A>G (p.Gln201=)
|
rs771558628
|
0.00008
|
NM_006096.4(NDRG1):c.1059C>T (p.Arg353=)
|
rs527561085
|
0.00008
|
NM_014845.6(FIG4):c.272C>T (p.Ser91Leu)
|
rs753543659
|
0.00008
|
NM_014845.6(FIG4):c.918C>T (p.Cys306=)
|
rs369159531
|
0.00008
|
NM_024577.4(SH3TC2):c.1105C>T (p.Arg369Cys)
|
rs569974719
|
0.00008
|
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu)
|
rs146364285
|
0.00008
|
NM_024577.4(SH3TC2):c.1725G>T (p.Leu575Phe)
|
rs376266262
|
0.00008
|
NM_024577.4(SH3TC2):c.53-6C>T
|
rs760274954
|
0.00008
|
NM_030962.4(SBF2):c.2070A>G (p.Glu690=)
|
rs201247796
|
0.00008
|
NM_030962.4(SBF2):c.4512T>C (p.Tyr1504=)
|
rs772156530
|
0.00008
|
NM_030962.4(SBF2):c.774C>A (p.Leu258=)
|
rs887509504
|
0.00008
|
NM_030962.4(SBF2):c.946C>T (p.Leu316=)
|
rs374841593
|
0.00008
|
NM_181882.3(PRX):c.1369G>A (p.Glu457Lys)
|
rs142064826
|
0.00008
|
NM_181882.3(PRX):c.69G>A (p.Thr23=)
|
rs142535919
|
0.00008
|
NM_181882.3(PRX):c.762C>A (p.Pro254=)
|
rs546448969
|
0.00008
|
NM_006096.4(NDRG1):c.1101C>T (p.Ser367=)
|
rs201959970
|
0.00007
|
NM_006096.4(NDRG1):c.403A>G (p.Ile135Val)
|
rs202118022
|
0.00007
|
NM_006096.4(NDRG1):c.720G>A (p.Glu240=)
|
rs1400704810
|
0.00007
|
NM_014845.6(FIG4):c.2406T>C (p.Tyr802=)
|
rs765557108
|
0.00007
|
NM_014845.6(FIG4):c.498-13A>G
|
rs199891240
|
0.00007
|
NM_014845.6(FIG4):c.66+13dup
|
rs755637236
|
0.00007
|
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
|
rs78346510
|
0.00007
|
NM_030962.4(SBF2):c.2436C>T (p.Ala812=)
|
rs374225152
|
0.00007
|
NM_030962.4(SBF2):c.3455+9G>A
|
rs372886234
|
0.00007
|
NM_181882.3(PRX):c.102A>C (p.Val34=)
|
rs761347226
|
0.00007
|
NM_181882.3(PRX):c.27+8C>A
|
rs769214562
|
0.00007
|
NM_001370298.3(FGD4):c.1485C>T (p.Leu495=)
|
rs767265254
|
0.00006
|
NM_001370298.3(FGD4):c.1602+14G>A
|
rs369728071
|
0.00006
|
NM_001370298.3(FGD4):c.2559C>T (p.Ser853=)
|
rs373371535
|
0.00006
|
NM_006096.4(NDRG1):c.270C>T (p.Ala90=)
|
rs200328537
|
0.00006
|
NM_006096.4(NDRG1):c.510A>G (p.Glu170=)
|
rs1452356345
|
0.00006
|
NM_006096.4(NDRG1):c.537+18C>T
|
rs779638529
|
0.00006
|
NM_006096.4(NDRG1):c.804C>T (p.Ala268=)
|
rs754704497
|
0.00006
|
NM_006096.4(NDRG1):c.999C>T (p.Ser333=)
|
rs201505193
|
0.00006
|
NM_014845.6(FIG4):c.1890-4A>G
|
rs376586317
|
0.00006
|
NM_014845.6(FIG4):c.2052C>T (p.Ser684=)
|
rs183958565
|
0.00006
|
NM_014845.6(FIG4):c.2154A>G (p.Pro718=)
|
rs201138266
|
0.00006
|
NM_014845.6(FIG4):c.54T>C (p.Tyr18=)
|
rs746307320
|
0.00006
|
NM_014845.6(FIG4):c.658A>G (p.Ile220Val)
|
rs565096937
|
0.00006
|
NM_014845.6(FIG4):c.66+8C>T
|
rs768404941
|
0.00006
|
NM_016156.6(MTMR2):c.1395C>T (p.Gly465=)
|
rs369925329
|
0.00006
|
NM_016156.6(MTMR2):c.1431G>A (p.Ser477=)
|
rs200285624
|
0.00006
|
NM_016156.6(MTMR2):c.1461C>T (p.Val487=)
|
rs372932127
|
0.00006
|
NM_016156.6(MTMR2):c.993+20A>T
|
rs373288455
|
0.00006
|
NM_024577.4(SH3TC2):c.1401C>T (p.Phe467=)
|
rs150950962
|
0.00006
|
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser)
|
rs201256776
|
0.00006
|
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His)
|
rs186864272
|
0.00006
|
NM_024577.4(SH3TC2):c.2215A>G (p.Met739Val)
|
rs146707871
|
0.00006
|
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=)
|
rs574669908
|
0.00006
|
NM_024577.4(SH3TC2):c.3287A>G (p.Asn1096Ser)
|
rs768331573
|
0.00006
|
NM_024577.4(SH3TC2):c.3676-9C>T
|
rs748694034
|
0.00006
|
NM_024577.4(SH3TC2):c.3835C>T (p.Arg1279Trp)
|
rs536334280
|
0.00006
|
NM_024577.4(SH3TC2):c.44G>A (p.Arg15Gln)
|
rs758276468
|
0.00006
|
NM_024577.4(SH3TC2):c.542G>T (p.Cys181Phe)
|
rs761372346
|
0.00006
|
NM_024577.4(SH3TC2):c.805+9G>A
|
rs143808719
|
0.00006
|
NM_030962.4(SBF2):c.2451G>T (p.Arg817=)
|
rs775803946
|
0.00006
|
NM_030962.4(SBF2):c.2598G>A (p.Pro866=)
|
rs376372877
|
0.00006
|
NM_030962.4(SBF2):c.4687T>C (p.Leu1563=)
|
rs563878786
|
0.00006
|
NM_030962.4(SBF2):c.4698+7dup
|
rs1193706918
|
0.00006
|
NM_030962.4(SBF2):c.5469T>C (p.Arg1823=)
|
rs373457270
|
0.00006
|
NM_181882.3(PRX):c.1500A>G (p.Ser500=)
|
rs777104457
|
0.00006
|
NM_181882.3(PRX):c.2082C>G (p.Pro694=)
|
rs1256959994
|
0.00006
|
NM_181882.3(PRX):c.21T>C (p.Ser7=)
|
rs553845309
|
0.00006
|
NM_181882.3(PRX):c.4317C>T (p.Ser1439=)
|
rs372280596
|
0.00006
|
NM_181882.3(PRX):c.468C>T (p.Val156=)
|
rs543875999
|
0.00006
|
NM_181882.3(PRX):c.597C>T (p.Ala199=)
|
rs144157275
|
0.00006
|
NM_001370298.3(FGD4):c.1602+13C>T
|
rs557373932
|
0.00005
|
NM_001370298.3(FGD4):c.2436C>T (p.Tyr812=)
|
rs528628927
|
0.00005
|
NM_006096.4(NDRG1):c.69C>A (p.Ile23=)
|
rs369862936
|
0.00005
|
NM_006096.4(NDRG1):c.944-8T>C
|
rs1274268124
|
0.00005
|
NM_014845.6(FIG4):c.1341T>C (p.Phe447=)
|
rs199651811
|
0.00005
|
NM_014845.6(FIG4):c.1435-8C>T
|
rs754607430
|
0.00005
|
NM_014845.6(FIG4):c.1584-19C>T
|
rs1052424090
|
0.00005
|
NM_014845.6(FIG4):c.1890-17T>A
|
rs201890605
|
0.00005
|
NM_014845.6(FIG4):c.2376+8G>A
|
rs779457828
|
0.00005
|
NM_014845.6(FIG4):c.669G>A (p.Glu223=)
|
rs764559318
|
0.00005
|
NM_016156.6(MTMR2):c.1386+13C>A
|
rs377431314
|
0.00005
|
NM_016156.6(MTMR2):c.1551C>T (p.Phe517=)
|
rs775961979
|
0.00005
|
NM_016156.6(MTMR2):c.54G>A (p.Arg18=)
|
rs372164252
|
0.00005
|
NM_024577.4(SH3TC2):c.2342G>T (p.Ser781Ile)
|
rs201934740
|
0.00005
|
NM_024577.4(SH3TC2):c.3053+16G>C
|
rs763241330
|
0.00005
|
NM_024577.4(SH3TC2):c.814C>T (p.Arg272Cys)
|
rs146143252
|
0.00005
|
NM_024577.4(SH3TC2):c.935C>T (p.Ser312Leu)
|
rs151205080
|
0.00005
|
NM_030962.4(SBF2):c.2536+16A>G
|
rs200967111
|
0.00005
|
NM_030962.4(SBF2):c.4263A>G (p.Thr1421=)
|
rs368381654
|
0.00005
|
NM_030962.4(SBF2):c.4638C>T (p.Asp1546=)
|
rs756538097
|
0.00005
|
NM_181882.3(PRX):c.2340G>A (p.Pro780=)
|
rs147618050
|
0.00005
|
NM_181882.3(PRX):c.2373G>C (p.Gln791His)
|
rs764404206
|
0.00005
|
NM_181882.3(PRX):c.237C>T (p.Asp79=)
|
rs376174896
|
0.00005
|
NM_181882.3(PRX):c.3288C>A (p.Ile1096=)
|
rs375122789
|
0.00005
|
NM_181882.3(PRX):c.642C>A (p.Pro214=)
|
rs551628239
|
0.00005
|
NM_181882.3(PRX):c.683G>A (p.Arg228His)
|
rs562108874
|
0.00005
|
NM_181882.3(PRX):c.870C>A (p.Ile290=)
|
rs758097995
|
0.00005
|
NM_001370298.3(FGD4):c.1749+13G>A
|
rs373049957
|
0.00004
|
NM_001370298.3(FGD4):c.1809A>T (p.Thr603=)
|
rs1220106574
|
0.00004
|
NM_001370298.3(FGD4):c.1922+11C>T
|
rs765969178
|
0.00004
|
NM_001370298.3(FGD4):c.2046+10A>G
|
rs374150424
|
0.00004
|
NM_001370298.3(FGD4):c.546G>A (p.Val182=)
|
rs148304644
|
0.00004
|
NM_001370298.3(FGD4):c.831A>C (p.Ala277=)
|
rs529268397
|
0.00004
|
NM_006096.4(NDRG1):c.1155C>T (p.Ala385=)
|
rs774605205
|
0.00004
|
NM_006096.4(NDRG1):c.492C>T (p.Asn164=)
|
rs183043224
|
0.00004
|
NM_006096.4(NDRG1):c.594+9C>T
|
rs373172944
|
0.00004
|
NM_006096.4(NDRG1):c.698+9A>G
|
rs754728870
|
0.00004
|
NM_006096.4(NDRG1):c.72C>T (p.Thr24=)
|
rs551078982
|
0.00004
|
NM_014845.6(FIG4):c.1040-4T>C
|
rs374343214
|
0.00004
|
NM_014845.6(FIG4):c.1158T>C (p.His386=)
|
rs370557879
|
0.00004
|
NM_014845.6(FIG4):c.1386A>G (p.Glu462=)
|
rs764699770
|
0.00004
|
NM_014845.6(FIG4):c.15C>T (p.Ala5=)
|
rs917052197
|
0.00004
|
NM_014845.6(FIG4):c.2180+20C>T
|
rs372359387
|
0.00004
|
NM_014845.6(FIG4):c.2199A>G (p.Glu733=)
|
rs537464083
|
0.00004
|
NM_014845.6(FIG4):c.2352A>G (p.Ala784=)
|
rs765278422
|
0.00004
|
NM_014845.6(FIG4):c.33G>C (p.Ser11=)
|
rs527523781
|
0.00004
|
NM_016156.6(MTMR2):c.1479+17A>G
|
rs760613129
|
0.00004
|
NM_016156.6(MTMR2):c.186+9A>G
|
rs371081575
|
0.00004
|
NM_016156.6(MTMR2):c.447T>C (p.Tyr149=)
|
rs776023078
|
0.00004
|
NM_016156.6(MTMR2):c.655-8A>G
|
rs768562214
|
0.00004
|
NM_016156.6(MTMR2):c.80+7A>G
|
rs1376851490
|
0.00004
|
NM_024577.4(SH3TC2):c.1177+9C>T
|
rs375581325
|
0.00004
|
NM_024577.4(SH3TC2):c.1239C>T (p.Ala413=)
|
rs199756080
|
0.00004
|
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=)
|
rs372749343
|
0.00004
|
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
|
rs143197881
|
0.00004
|
NM_024577.4(SH3TC2):c.2323G>A (p.Gly775Ser)
|
rs559578990
|
0.00004
|
NM_024577.4(SH3TC2):c.2449G>T (p.Asp817Tyr)
|
rs373153093
|
0.00004
|
NM_024577.4(SH3TC2):c.2574C>T (p.Ser858=)
|
rs200772521
|
0.00004
|
NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro)
|
rs369278337
|
0.00004
|
NM_024577.4(SH3TC2):c.302G>A (p.Ser101Asn)
|
rs199603042
|
0.00004
|
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=)
|
rs768044718
|
0.00004
|
NM_024577.4(SH3TC2):c.3168C>T (p.Leu1056=)
|
rs200795092
|
0.00004
|
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=)
|
rs766282582
|
0.00004
|
NM_024577.4(SH3TC2):c.3180C>T (p.Asp1060=)
|
rs780060168
|
0.00004
|
NM_024577.4(SH3TC2):c.3360G>A (p.Lys1120=)
|
rs967171497
|
0.00004
|
NM_024577.4(SH3TC2):c.3479-20C>T
|
rs376784930
|
0.00004
|
NM_024577.4(SH3TC2):c.806-11A>G
|
rs904258121
|
0.00004
|
NM_024577.4(SH3TC2):c.882C>T (p.Ser294=)
|
rs200091368
|
0.00004
|
NM_030962.4(SBF2):c.129G>A (p.Gln43=)
|
rs761285505
|
0.00004
|
NM_030962.4(SBF2):c.1396-6T>C
|
rs369973804
|
0.00004
|
NM_030962.4(SBF2):c.1569G>A (p.Lys523=)
|
rs776951161
|
0.00004
|
NM_030962.4(SBF2):c.1929+7T>C
|
rs777170105
|
0.00004
|
NM_030962.4(SBF2):c.2787A>T (p.Gly929=)
|
rs777826645
|
0.00004
|
NM_030962.4(SBF2):c.3087G>A (p.Gln1029=)
|
rs775337881
|
0.00004
|
NM_030962.4(SBF2):c.3582C>T (p.Leu1194=)
|
rs201514622
|
0.00004
|
NM_030962.4(SBF2):c.4101T>G (p.Thr1367=)
|
rs766353139
|
0.00004
|
NM_030962.4(SBF2):c.5451+10_5451+13dup
|
rs1064795190
|
0.00004
|
NM_030962.4(SBF2):c.5493T>C (p.Asp1831=)
|
rs779051883
|
0.00004
|
NM_030962.4(SBF2):c.798A>G (p.Leu266=)
|
rs138122773
|
0.00004
|
NM_030962.4(SBF2):c.810G>A (p.Thr270=)
|
rs769963369
|
0.00004
|
NM_181882.3(PRX):c.2100C>T (p.Ala700=)
|
rs757528702
|
0.00004
|
NM_181882.3(PRX):c.2715C>A (p.Thr905=)
|
rs188765166
|
0.00004
|
NM_181882.3(PRX):c.2730C>T (p.Ala910=)
|
rs878855283
|
0.00004
|
NM_181882.3(PRX):c.286C>T (p.Leu96=)
|
rs149325913
|
0.00004
|
NM_181882.3(PRX):c.3237T>C (p.Asp1079=)
|
rs774823527
|
0.00004
|
NM_181882.3(PRX):c.3768G>T (p.Val1256=)
|
rs367862999
|
0.00004
|
NM_181882.3(PRX):c.4377G>A (p.Ala1459=)
|
rs377062046
|
0.00004
|
NM_181882.3(PRX):c.624C>T (p.Ala208=)
|
rs777019611
|
0.00004
|
NM_181882.3(PRX):c.747C>T (p.Pro249=)
|
rs3814289
|
0.00004
|
NM_181882.3(PRX):c.934C>T (p.Leu312=)
|
rs369792380
|
0.00004
|
NM_001370298.3(FGD4):c.1338A>C (p.Ala446=)
|
rs1454504656
|
0.00003
|
NM_001370298.3(FGD4):c.1842A>G (p.Lys614=)
|
rs1023207495
|
0.00003
|
NM_001370298.3(FGD4):c.1953+7C>T
|
rs1408854259
|
0.00003
|
NM_001370298.3(FGD4):c.2373G>A (p.Glu791=)
|
rs201822384
|
0.00003
|
NM_001370298.3(FGD4):c.2652A>G (p.Pro884=)
|
rs1294353519
|
0.00003
|
NM_006096.4(NDRG1):c.1062C>G (p.Ser354=)
|
rs560162089
|
0.00003
|
NM_006096.4(NDRG1):c.129T>C (p.Ser43=)
|
rs758024351
|
0.00003
|
NM_006096.4(NDRG1):c.342C>T (p.Ser114=)
|
rs368561195
|
0.00003
|
NM_006096.4(NDRG1):c.42G>A (p.Lys14=)
|
rs753261868
|
0.00003
|
NM_006096.4(NDRG1):c.813G>A (p.Glu271=)
|
rs368468160
|
0.00003
|
NM_006096.4(NDRG1):c.892-4G>A
|
rs751360652
|
0.00003
|
NM_014845.6(FIG4):c.1949-7C>A
|
rs758167651
|
0.00003
|
NM_014845.6(FIG4):c.2232C>T (p.Ser744=)
|
rs760578430
|
0.00003
|
NM_014845.6(FIG4):c.2388A>G (p.Gln796=)
|
rs1439788451
|
0.00003
|
NM_014845.6(FIG4):c.243A>G (p.Lys81=)
|
rs200257799
|
0.00003
|
NM_014845.6(FIG4):c.2547-11A>G
|
rs745613994
|
0.00003
|
NM_014845.6(FIG4):c.351G>A (p.Ala117=)
|
rs375963892
|
0.00003
|
NM_016156.6(MTMR2):c.522C>T (p.Ser174=)
|
rs146014892
|
0.00003
|
NM_016156.6(MTMR2):c.655-19T>C
|
rs756828009
|
0.00003
|
NM_016156.6(MTMR2):c.960T>C (p.Asp320=)
|
rs776038747
|
0.00003
|
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=)
|
rs201779392
|
0.00003
|
NM_024577.4(SH3TC2):c.164C>T (p.Ser55Phe)
|
rs201291203
|
0.00003
|
NM_024577.4(SH3TC2):c.1947C>T (p.His649=)
|
rs576049662
|
0.00003
|
NM_024577.4(SH3TC2):c.2023G>A (p.Val675Ile)
|
rs764633604
|
0.00003
|
NM_024577.4(SH3TC2):c.2254G>A (p.Asp752Asn)
|
rs749008572
|
0.00003
|
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp)
|
rs185149793
|
0.00003
|
NM_024577.4(SH3TC2):c.2373T>A (p.Gly791=)
|
rs187337223
|
0.00003
|
NM_024577.4(SH3TC2):c.2551C>T (p.Arg851Trp)
|
rs144655516
|
0.00003
|
NM_024577.4(SH3TC2):c.2873-4T>A
|
rs771093927
|
0.00003
|
NM_024577.4(SH3TC2):c.2989C>T (p.Arg997Trp)
|
rs763331671
|
0.00003
|
NM_024577.4(SH3TC2):c.3312A>G (p.Ala1104=)
|
rs369131151
|
0.00003
|
NM_024577.4(SH3TC2):c.3363G>A (p.Ala1121=)
|
rs547035706
|
0.00003
|
NM_024577.4(SH3TC2):c.529+10G>A
|
rs768567281
|
0.00003
|
NM_024577.4(SH3TC2):c.660G>C (p.Val220=)
|
rs202052720
|
0.00003
|
NM_030962.4(SBF2):c.1383A>G (p.Gln461=)
|
rs151036108
|
0.00003
|
NM_030962.4(SBF2):c.2160A>G (p.Gln720=)
|
rs1247703447
|
0.00003
|
NM_030962.4(SBF2):c.258T>C (p.Tyr86=)
|
rs778681306
|
0.00003
|
NM_030962.4(SBF2):c.3540G>C (p.Leu1180=)
|
rs766137744
|
0.00003
|
NM_030962.4(SBF2):c.3708A>G (p.Gln1236=)
|
rs1371647333
|
0.00003
|
NM_030962.4(SBF2):c.403-8T>C
|
rs755029382
|
0.00003
|
NM_030962.4(SBF2):c.4107A>C (p.Ser1369=)
|
rs769205402
|
0.00003
|
NM_030962.4(SBF2):c.48G>A (p.Glu16=)
|
rs889453292
|
0.00003
|
NM_030962.4(SBF2):c.600T>C (p.Ala200=)
|
rs770433606
|
0.00003
|
NM_030962.4(SBF2):c.984C>T (p.His328=)
|
rs367717680
|
0.00003
|
NM_030962.4(SBF2):c.993G>A (p.Leu331=)
|
rs766193938
|
0.00003
|
NM_181882.3(PRX):c.1461G>A (p.Pro487=)
|
rs757009052
|
0.00003
|
NM_181882.3(PRX):c.1827C>T (p.Pro609=)
|
rs751816156
|
0.00003
|
NM_181882.3(PRX):c.1965G>A (p.Pro655=)
|
rs186171971
|
0.00003
|
NM_181882.3(PRX):c.2244G>A (p.Pro748=)
|
rs534322807
|
0.00003
|
NM_181882.3(PRX):c.2286G>A (p.Lys762=)
|
rs373111657
|
0.00003
|
NM_181882.3(PRX):c.2295C>T (p.Asp765=)
|
rs377360814
|
0.00003
|
NM_181882.3(PRX):c.2425C>T (p.Leu809=)
|
rs145272609
|
0.00003
|
NM_181882.3(PRX):c.2649G>A (p.Glu883=)
|
rs747871484
|
0.00003
|
NM_181882.3(PRX):c.2850G>C (p.Gly950=)
|
rs770520776
|
0.00003
|
NM_181882.3(PRX):c.3939G>A (p.Leu1313=)
|
rs140109585
|
0.00003
|
NM_181882.3(PRX):c.4152G>A (p.Ala1384=)
|
rs756887163
|
0.00003
|
NM_181882.3(PRX):c.639C>G (p.Pro213=)
|
rs1479088366
|
0.00003
|
NM_181882.3(PRX):c.750G>A (p.Gln250=)
|
rs1184005539
|
0.00003
|
NM_181882.3(PRX):c.840G>A (p.Pro280=)
|
rs773272074
|
0.00003
|
NM_001370298.3(FGD4):c.1263A>G (p.Arg421=)
|
rs773609461
|
0.00002
|
NM_001370298.3(FGD4):c.2067A>G (p.Arg689=)
|
rs1488014686
|
0.00002
|
NM_001370298.3(FGD4):c.2172+8A>T
|
rs761674021
|
0.00002
|
NM_001370298.3(FGD4):c.2313+11T>C
|
rs200030176
|
0.00002
|
NM_006096.4(NDRG1):c.1152C>T (p.Ser384=)
|
rs863224413
|
0.00002
|
NM_006096.4(NDRG1):c.1167C>T (p.Ser389=)
|
rs769654928
|
0.00002
|
NM_006096.4(NDRG1):c.141G>A (p.Thr47=)
|
rs750933446
|
0.00002
|
NM_006096.4(NDRG1):c.30C>T (p.Leu10=)
|
rs758205425
|
0.00002
|
NM_006096.4(NDRG1):c.321C>T (p.Pro107=)
|
rs1403681249
|
0.00002
|
NM_006096.4(NDRG1):c.352C>T (p.Leu118=)
|
rs559877336
|
0.00002
|
NM_006096.4(NDRG1):c.451-8A>G
|
rs1306905217
|
0.00002
|
NM_006096.4(NDRG1):c.48G>A (p.Leu16=)
|
rs767603105
|
0.00002
|
NM_006096.4(NDRG1):c.595-5T>C
|
rs1418098888
|
0.00002
|
NM_006096.4(NDRG1):c.6T>G (p.Ser2=)
|
rs1195247473
|
0.00002
|
NM_006096.4(NDRG1):c.705C>T (p.Arg235=)
|
rs528436514
|
0.00002
|
NM_006096.4(NDRG1):c.808-6G>T
|
rs779633074
|
0.00002
|
NM_006096.4(NDRG1):c.861G>A (p.Ala287=)
|
rs150101908
|
0.00002
|
NM_006096.4(NDRG1):c.894G>A (p.Pro298=)
|
rs368061370
|
0.00002
|
NM_014845.6(FIG4):c.1482C>T (p.Asn494=)
|
rs776928002
|
0.00002
|
NM_014845.6(FIG4):c.1620C>T (p.Thr540=)
|
rs746367416
|
0.00002
|
NM_014845.6(FIG4):c.1809G>A (p.Gly603=)
|
rs148280593
|
0.00002
|
NM_014845.6(FIG4):c.1932A>G (p.Pro644=)
|
rs767919652
|
0.00002
|
NM_014845.6(FIG4):c.1949-15C>T
|
rs778444771
|
0.00002
|
NM_014845.6(FIG4):c.2377-10T>A
|
rs9481005
|
0.00002
|
NM_014845.6(FIG4):c.2547-4A>G
|
rs886060985
|
0.00002
|
NM_014845.6(FIG4):c.2668C>T (p.Leu890=)
|
rs922260214
|
0.00002
|
NM_014845.6(FIG4):c.2685C>T (p.Ser895=)
|
rs764459799
|
0.00002
|
NM_014845.6(FIG4):c.289+17C>T
|
rs368282150
|
0.00002
|
NM_014845.6(FIG4):c.366T>C (p.His122=)
|
rs772376305
|
0.00002
|
NM_014845.6(FIG4):c.447-14_447-13insG
|
rs1312654340
|
0.00002
|
NM_014845.6(FIG4):c.447-19T>C
|
rs1562651409
|
0.00002
|
NM_014845.6(FIG4):c.497+9G>A
|
rs759409330
|
0.00002
|
NM_016156.6(MTMR2):c.1248T>C (p.His416=)
|
rs779618687
|
0.00002
|
NM_016156.6(MTMR2):c.1386+14C>T
|
rs756723447
|
0.00002
|
NM_016156.6(MTMR2):c.1479+12G>A
|
rs763917620
|
0.00002
|
NM_016156.6(MTMR2):c.1755A>T (p.Pro585=)
|
rs138036650
|
0.00002
|
NM_016156.6(MTMR2):c.297C>T (p.Gly99=)
|
rs772347980
|
0.00002
|
NM_024577.4(SH3TC2):c.1136-12A>G
|
rs367677521
|
0.00002
|
NM_024577.4(SH3TC2):c.1178-8C>T
|
rs202042438
|
0.00002
|
NM_024577.4(SH3TC2):c.1284G>A (p.Glu428=)
|
rs367691494
|
0.00002
|
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)
|
rs778936762
|
0.00002
|
NM_024577.4(SH3TC2):c.1830G>A (p.Lys610=)
|
rs370025626
|
0.00002
|
NM_024577.4(SH3TC2):c.1854C>T (p.Tyr618=)
|
rs1483284949
|
0.00002
|
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp)
|
rs537049075
|
0.00002
|
NM_024577.4(SH3TC2):c.1968C>T (p.Ala656=)
|
rs114797709
|
0.00002
|
NM_024577.4(SH3TC2):c.2258G>A (p.Arg753Gln)
|
rs755570739
|
0.00002
|
NM_024577.4(SH3TC2):c.2922C>T (p.Ser974=)
|
rs755319616
|
0.00002
|
NM_024577.4(SH3TC2):c.2950C>A (p.His984Asn)
|
rs747613156
|
0.00002
|
NM_024577.4(SH3TC2):c.3024G>A (p.Gly1008=)
|
rs771710493
|
0.00002
|
NM_024577.4(SH3TC2):c.3039C>A (p.Asn1013Lys)
|
rs753381949
|
0.00002
|
NM_024577.4(SH3TC2):c.3205-7C>T
|
rs369262851
|
0.00002
|
NM_024577.4(SH3TC2):c.330C>T (p.Leu110=)
|
rs1305286171
|
0.00002
|
NM_024577.4(SH3TC2):c.3479-5C>T
|
rs768321650
|
0.00002
|
NM_024577.4(SH3TC2):c.3757A>G (p.Ile1253Val)
|
rs147931490
|
0.00002
|
NM_024577.4(SH3TC2):c.3833C>T (p.Ala1278Val)
|
rs374516818
|
0.00002
|
NM_024577.4(SH3TC2):c.442T>G (p.Cys148Gly)
|
rs748071430
|
0.00002
|
NM_024577.4(SH3TC2):c.530-12C>T
|
rs374788786
|
0.00002
|
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=)
|
rs371302639
|
0.00002
|
NM_024577.4(SH3TC2):c.936G>A (p.Ser312=)
|
rs918659172
|
0.00002
|
NM_030962.4(SBF2):c.1164C>T (p.His388=)
|
rs959559753
|
0.00002
|
NM_030962.4(SBF2):c.142-11A>G
|
rs539146891
|
0.00002
|
NM_030962.4(SBF2):c.1861-7C>T
|
rs199559894
|
0.00002
|
NM_030962.4(SBF2):c.1971A>G (p.Val657=)
|
rs368639697
|
0.00002
|
NM_030962.4(SBF2):c.2304C>T (p.Leu768=)
|
rs758341369
|
0.00002
|
NM_030962.4(SBF2):c.2397A>G (p.Thr799=)
|
rs759550730
|
0.00002
|
NM_030962.4(SBF2):c.2481T>C (p.Cys827=)
|
rs777916307
|
0.00002
|
NM_030962.4(SBF2):c.2806+10G>A
|
rs761936469
|
0.00002
|
NM_030962.4(SBF2):c.2807-8A>G
|
rs762580844
|
0.00002
|
NM_030962.4(SBF2):c.2935-15C>G
|
rs967262284
|
0.00002
|
NM_030962.4(SBF2):c.3256+15G>C
|
rs774896771
|
0.00002
|
NM_030962.4(SBF2):c.3744C>G (p.Leu1248=)
|
rs752703631
|
0.00002
|
NM_030962.4(SBF2):c.3858T>C (p.Val1286=)
|
rs768590614
|
0.00002
|
NM_030962.4(SBF2):c.3978+7T>C
|
rs1416833371
|
0.00002
|
NM_030962.4(SBF2):c.402+15G>A
|
rs780717348
|
0.00002
|
NM_030962.4(SBF2):c.409C>T (p.Leu137=)
|
rs200954150
|
0.00002
|
NM_030962.4(SBF2):c.4570+18C>T
|
rs754163697
|
0.00002
|
NM_030962.4(SBF2):c.4839A>G (p.Gly1613=)
|
rs759504729
|
0.00002
|
NM_030962.4(SBF2):c.4872G>T (p.Val1624=)
|
rs539369489
|
0.00002
|
NM_030962.4(SBF2):c.5007G>A (p.Val1669=)
|
rs918725972
|
0.00002
|
NM_030962.4(SBF2):c.5112A>G (p.Leu1704=)
|
rs370420894
|
0.00002
|
NM_030962.4(SBF2):c.5231+13A>G
|
rs1242027664
|
0.00002
|
NM_030962.4(SBF2):c.5452-18T>C
|
rs774923587
|
0.00002
|
NM_181882.3(PRX):c.1008C>T (p.Asp336=)
|
rs956847298
|
0.00002
|
NM_181882.3(PRX):c.1080T>C (p.Leu360=)
|
rs199882125
|
0.00002
|
NM_181882.3(PRX):c.108C>A (p.Gly36=)
|
rs771407657
|
0.00002
|
NM_181882.3(PRX):c.1107A>C (p.Ala369=)
|
rs1191054190
|
0.00002
|
NM_181882.3(PRX):c.185-6C>T
|
rs747043680
|
0.00002
|
NM_181882.3(PRX):c.1935C>T (p.Pro645=)
|
rs763132536
|
0.00002
|
NM_181882.3(PRX):c.1950C>T (p.Pro650=)
|
rs761824931
|
0.00002
|
NM_181882.3(PRX):c.2214C>T (p.Pro738=)
|
rs772694451
|
0.00002
|
NM_181882.3(PRX):c.2496A>T (p.Val832=)
|
rs777527307
|
0.00002
|
NM_181882.3(PRX):c.2868G>A (p.Lys956=)
|
rs1353324401
|
0.00002
|
NM_181882.3(PRX):c.336G>A (p.Val112=)
|
rs369268369
|
0.00002
|
NM_181882.3(PRX):c.3423G>A (p.Ala1141=)
|
rs370800046
|
0.00002
|
NM_181882.3(PRX):c.3441G>A (p.Pro1147=)
|
rs777344023
|
0.00002
|
NM_181882.3(PRX):c.3486G>A (p.Glu1162=)
|
rs764466921
|
0.00002
|
NM_181882.3(PRX):c.3885G>A (p.Glu1295=)
|
rs776947855
|
0.00002
|
NM_181882.3(PRX):c.4200G>A (p.Lys1400=)
|
rs760540823
|
0.00002
|
NM_181882.3(PRX):c.4206C>T (p.Pro1402=)
|
rs771992595
|
0.00002
|
NM_001370298.3(FGD4):c.1101+14T>C
|
rs370504841
|
0.00001
|
NM_001370298.3(FGD4):c.1101+15C>A
|
rs765678800
|
0.00001
|
NM_001370298.3(FGD4):c.1102-10T>G
|
rs757366254
|
0.00001
|
NM_001370298.3(FGD4):c.1102-5T>A
|
rs1459339879
|
0.00001
|
NM_001370298.3(FGD4):c.1194T>C (p.Asn398=)
|
rs201678865
|
0.00001
|
NM_001370298.3(FGD4):c.1248-13A>G
|
rs551481786
|
0.00001
|
NM_001370298.3(FGD4):c.1248-17T>C
|
rs376455877
|
0.00001
|
NM_001370298.3(FGD4):c.1488T>G (p.Leu496=)
|
rs750201776
|
0.00001
|
NM_001370298.3(FGD4):c.1543+8_1543+9insG
|
rs1555216986
|
0.00001
|
NM_001370298.3(FGD4):c.1602+7G>A
|
rs369751598
|
0.00001
|
NM_001370298.3(FGD4):c.1906C>T (p.Leu636=)
|
rs182397244
|
0.00001
|
NM_001370298.3(FGD4):c.2046+18C>A
|
rs1950066689
|
0.00001
|
NM_001370298.3(FGD4):c.2133A>G (p.Ala711=)
|
rs771910342
|
0.00001
|
NM_001370298.3(FGD4):c.2148G>A (p.Arg716=)
|
rs372451301
|
0.00001
|
NM_001370298.3(FGD4):c.2172+12T>G
|
rs945554080
|
0.00001
|
NM_001370298.3(FGD4):c.2173-20A>C
|
rs1248910039
|
0.00001
|
NM_001370298.3(FGD4):c.2331A>G (p.Val777=)
|
rs909875227
|
0.00001
|
NM_001370298.3(FGD4):c.2349G>A (p.Val783=)
|
rs751146762
|
0.00001
|
NM_001370298.3(FGD4):c.2455-5T>G
|
rs749267223
|
0.00001
|
NM_001370298.3(FGD4):c.2481A>T (p.Pro827=)
|
rs772795536
|
0.00001
|
NM_001370298.3(FGD4):c.2499G>A (p.Val833=)
|
rs1249630170
|
0.00001
|
NM_001370298.3(FGD4):c.2616C>T (p.Ile872=)
|
rs759982135
|
0.00001
|
NM_001370298.3(FGD4):c.2685T>C (p.Pro895=)
|
rs1261222765
|
0.00001
|
NM_001370298.3(FGD4):c.441T>C (p.Ser147=)
|
rs748732880
|
0.00001
|
NM_001370298.3(FGD4):c.612C>T (p.Leu204=)
|
rs141920723
|
0.00001
|
NM_001370298.3(FGD4):c.624G>A (p.Leu208=)
|
rs1213300520
|
0.00001
|
NM_001370298.3(FGD4):c.786G>A (p.Thr262=)
|
rs374075663
|
0.00001
|
NM_001370298.3(FGD4):c.945A>G (p.Val315=)
|
rs756774860
|
0.00001
|
NM_001370298.3(FGD4):c.999C>T (p.His333=)
|
rs748534766
|
0.00001
|
NM_006096.4(NDRG1):c.111C>T (p.Ile37=)
|
rs1040626274
|
0.00001
|
NM_006096.4(NDRG1):c.1125C>T (p.Thr375=)
|
rs1433020796
|
0.00001
|
NM_006096.4(NDRG1):c.1140T>C (p.Ala380=)
|
rs1184071181
|
0.00001
|
NM_006096.4(NDRG1):c.1146G>A (p.Gly382=)
|
rs761869008
|
0.00001
|
NM_006096.4(NDRG1):c.1179C>T (p.Ser393=)
|
rs1429388363
|
0.00001
|
NM_006096.4(NDRG1):c.135C>T (p.His45=)
|
rs146924327
|
0.00001
|
NM_006096.4(NDRG1):c.144G>T (p.Leu48=)
|
rs1856822376
|
0.00001
|
NM_006096.4(NDRG1):c.165C>T (p.Asn55=)
|
rs368056707
|
0.00001
|
NM_006096.4(NDRG1):c.195C>T (p.Ile65=)
|
rs747826464
|
0.00001
|
NM_006096.4(NDRG1):c.225C>T (p.Pro75=)
|
rs1399226663
|
0.00001
|
NM_006096.4(NDRG1):c.237C>T (p.Tyr79=)
|
rs199928197
|
0.00001
|
NM_006096.4(NDRG1):c.261G>A (p.Gln87=)
|
rs779852927
|
0.00001
|
NM_006096.4(NDRG1):c.264C>T (p.His88=)
|
rs745641689
|
0.00001
|
NM_006096.4(NDRG1):c.279C>T (p.His93=)
|
rs535621392
|
0.00001
|
NM_006096.4(NDRG1):c.303C>T (p.Asp101=)
|
rs765528167
|
0.00001
|
NM_006096.4(NDRG1):c.389+13G>C
|
rs537705365
|
0.00001
|
NM_006096.4(NDRG1):c.389+9G>A
|
rs762349755
|
0.00001
|
NM_006096.4(NDRG1):c.438A>C (p.Leu146=)
|
rs772535207
|
0.00001
|
NM_006096.4(NDRG1):c.459C>T (p.Asn153=)
|
rs1362437196
|
0.00001
|
NM_006096.4(NDRG1):c.477C>T (p.Gly159=)
|
rs747948344
|
0.00001
|
NM_006096.4(NDRG1):c.483C>T (p.Val161=)
|
rs778902905
|
0.00001
|
NM_006096.4(NDRG1):c.537+15T>C
|
rs774062606
|
0.00001
|
NM_006096.4(NDRG1):c.537+17T>C
|
rs760837390
|
0.00001
|
NM_006096.4(NDRG1):c.538-10T>C
|
rs1856267945
|
0.00001
|
NM_006096.4(NDRG1):c.543A>C (p.Ser181=)
|
rs1856266963
|
0.00001
|
NM_006096.4(NDRG1):c.546A>G (p.Gly182=)
|
rs745362178
|
0.00001
|
NM_006096.4(NDRG1):c.564G>A (p.Pro188=)
|
rs755317968
|
0.00001
|
NM_006096.4(NDRG1):c.585T>A (p.Leu195=)
|
rs373490199
|
0.00001
|
NM_006096.4(NDRG1):c.591G>A (p.Gly197=)
|
rs377257830
|
0.00001
|
NM_006096.4(NDRG1):c.594+8G>T
|
rs767524421
|
0.00001
|
NM_006096.4(NDRG1):c.595-12C>T
|
rs751730957
|
0.00001
|
NM_006096.4(NDRG1):c.612C>T (p.Asn204=)
|
rs766402088
|
0.00001
|
NM_006096.4(NDRG1):c.63+16C>T
|
rs377228732
|
0.00001
|
NM_006096.4(NDRG1):c.64-11T>C
|
rs754822633
|
0.00001
|
NM_006096.4(NDRG1):c.669C>T (p.Asn223=)
|
rs771616050
|
0.00001
|
NM_006096.4(NDRG1):c.732G>A (p.Pro244=)
|
rs532191834
|
0.00001
|
NM_006096.4(NDRG1):c.741C>T (p.His247=)
|
rs755977835
|
0.00001
|
NM_006096.4(NDRG1):c.744A>G (p.Thr248=)
|
rs767500485
|
0.00001
|
NM_006096.4(NDRG1):c.755+9C>T
|
rs756756059
|
0.00001
|
NM_006096.4(NDRG1):c.756-9T>C
|
rs1456184015
|
0.00001
|
NM_006096.4(NDRG1):c.766C>T (p.Leu256=)
|
rs898573925
|
0.00001
|
NM_006096.4(NDRG1):c.78C>T (p.Leu26=)
|
rs1458380202
|
0.00001
|
NM_006096.4(NDRG1):c.843C>T (p.Thr281=)
|
rs1272669552
|
0.00001
|
NM_006096.4(NDRG1):c.852C>T (p.Leu284=)
|
rs376272911
|
0.00001
|
NM_006096.4(NDRG1):c.855+14_855+15del
|
rs780070007
|
0.00001
|
NM_006096.4(NDRG1):c.870C>T (p.Gly290=)
|
rs1295553913
|
0.00001
|
NM_006096.4(NDRG1):c.891+11T>C
|
rs755495413
|
0.00001
|
NM_006096.4(NDRG1):c.891+15G>A
|
rs1554748576
|
0.00001
|
NM_006096.4(NDRG1):c.892-9C>G
|
rs987790520
|
0.00001
|
NM_006096.4(NDRG1):c.900G>A (p.Lys300=)
|
rs1365117893
|
0.00001
|
NM_006096.4(NDRG1):c.903C>T (p.Leu301=)
|
rs752571083
|
0.00001
|
NM_006096.4(NDRG1):c.924C>T (p.Phe308=)
|
rs1376691366
|
0.00001
|
NM_006096.4(NDRG1):c.93T>C (p.Asp31=)
|
rs773317729
|
0.00001
|
NM_006096.4(NDRG1):c.943+7A>G
|
rs571439980
|
0.00001
|
NM_006096.4(NDRG1):c.975G>A (p.Arg325=)
|
rs375099070
|
0.00001
|
NM_006096.4(NDRG1):c.987C>T (p.Ala329=)
|
rs778770054
|
0.00001
|
NM_014845.6(FIG4):c.1116C>T (p.Ile372=)
|
rs754932535
|
0.00001
|
NM_014845.6(FIG4):c.1137+14A>G
|
rs1776398818
|
0.00001
|
NM_014845.6(FIG4):c.114C>T (p.Val38=)
|
rs765676819
|
0.00001
|
NM_014845.6(FIG4):c.1271+7G>A
|
rs1158557424
|
0.00001
|
NM_014845.6(FIG4):c.1350C>G (p.Arg450=)
|
rs763035100
|
0.00001
|
NM_014845.6(FIG4):c.1389-4A>G
|
rs1234617040
|
0.00001
|
NM_014845.6(FIG4):c.1389-5C>T
|
rs377752443
|
0.00001
|
NM_014845.6(FIG4):c.1434+16C>T
|
rs772128948
|
0.00001
|
NM_014845.6(FIG4):c.1434+7A>C
|
rs773157476
|
0.00001
|
NM_014845.6(FIG4):c.1525C>T (p.Leu509=)
|
rs146488614
|
0.00001
|
NM_014845.6(FIG4):c.1527G>A (p.Leu509=)
|
rs1282869999
|
0.00001
|
NM_014845.6(FIG4):c.1584-16G>A
|
rs1223371250
|
0.00001
|
NM_014845.6(FIG4):c.1584-9T>C
|
rs748433013
|
0.00001
|
NM_014845.6(FIG4):c.1750+11A>C
|
rs766372971
|
0.00001
|
NM_014845.6(FIG4):c.1755C>T (p.Ala585=)
|
rs377111248
|
0.00001
|
NM_014845.6(FIG4):c.1812A>G (p.Lys604=)
|
rs1399930708
|
0.00001
|
NM_014845.6(FIG4):c.1827G>A (p.Glu609=)
|
rs756085095
|
0.00001
|
NM_014845.6(FIG4):c.1836A>G (p.Thr612=)
|
rs1267198458
|
0.00001
|
NM_014845.6(FIG4):c.1890-18T>A
|
rs769375338
|
0.00001
|
NM_014845.6(FIG4):c.2085A>C (p.Thr695=)
|
rs1197412787
|
0.00001
|
NM_014845.6(FIG4):c.2096+16T>A
|
rs779641739
|
0.00001
|
NM_014845.6(FIG4):c.2115C>T (p.Thr705=)
|
rs201271644
|
0.00001
|
NM_014845.6(FIG4):c.2118T>G (p.Val706=)
|
rs780930471
|
0.00001
|
NM_014845.6(FIG4):c.2215C>A (p.Arg739=)
|
rs773877685
|
0.00001
|
NM_014845.6(FIG4):c.2238G>A (p.Pro746=)
|
rs753867543
|
0.00001
|
NM_014845.6(FIG4):c.2250C>T (p.Ser750=)
|
rs751694228
|
0.00001
|
NM_014845.6(FIG4):c.2289G>A (p.Gly763=)
|
rs756539176
|
0.00001
|
NM_014845.6(FIG4):c.2319T>C (p.Ser773=)
|
rs745397940
|
0.00001
|
NM_014845.6(FIG4):c.2334C>T (p.Pro778=)
|
rs1183428109
|
0.00001
|
NM_014845.6(FIG4):c.2382G>A (p.Val794=)
|
rs1201567620
|
0.00001
|
NM_014845.6(FIG4):c.2403A>G (p.Leu801=)
|
rs1048137431
|
0.00001
|
NM_014845.6(FIG4):c.2459+6_2459+8dup
|
rs1562687535
|
0.00001
|
NM_014845.6(FIG4):c.2460-17T>C
|
rs201533992
|
0.00001
|
NM_014845.6(FIG4):c.2470C>T (p.Leu824=)
|
rs1290598433
|
0.00001
|
NM_014845.6(FIG4):c.252G>A (p.Ser84=)
|
rs532895784
|
0.00001
|
NM_014845.6(FIG4):c.2546+11G>T
|
rs1051662160
|
0.00001
|
NM_014845.6(FIG4):c.2547-12C>T
|
rs778747845
|
0.00001
|
NM_014845.6(FIG4):c.2640C>T (p.Ile880=)
|
rs769813337
|
0.00001
|
NM_014845.6(FIG4):c.289+10C>A
|
rs778732368
|
0.00001
|
NM_014845.6(FIG4):c.300G>A (p.Arg100=)
|
rs368831195
|
0.00001
|
NM_014845.6(FIG4):c.318T>C (p.Tyr106=)
|
rs1417300017
|
0.00001
|
NM_014845.6(FIG4):c.324G>C (p.Val108=)
|
rs1371576818
|
0.00001
|
NM_014845.6(FIG4):c.477A>G (p.Leu159=)
|
rs769256280
|
0.00001
|
NM_014845.6(FIG4):c.497+14T>G
|
rs756070677
|
0.00001
|
NM_014845.6(FIG4):c.66+18G>A
|
rs1381893795
|
0.00001
|
NM_014845.6(FIG4):c.876+8G>A
|
rs923581334
|
0.00001
|
NM_014845.6(FIG4):c.877-8C>G
|
rs1279902930
|
0.00001
|
NM_014845.6(FIG4):c.885T>A (p.Val295=)
|
rs551491783
|
0.00001
|
NM_014845.6(FIG4):c.909A>G (p.Gln303=)
|
rs1173352807
|
0.00001
|
NM_014845.6(FIG4):c.915C>G (p.Leu305=)
|
rs375022448
|
0.00001
|
NM_016156.6(MTMR2):c.1179+7G>A
|
rs750955214
|
0.00001
|
NM_016156.6(MTMR2):c.1180-11C>T
|
rs1200941827
|
0.00001
|
NM_016156.6(MTMR2):c.1281C>A (p.Leu427=)
|
rs199542109
|
0.00001
|
NM_016156.6(MTMR2):c.1386+8A>C
|
rs371105248
|
0.00001
|
NM_016156.6(MTMR2):c.1387-7G>A
|
rs1279840467
|
0.00001
|
NM_016156.6(MTMR2):c.1446A>G (p.Gln482=)
|
rs376166939
|
0.00001
|
NM_016156.6(MTMR2):c.1479+13G>A
|
rs968902751
|
0.00001
|
NM_016156.6(MTMR2):c.1480-20T>C
|
rs371041744
|
0.00001
|
NM_016156.6(MTMR2):c.1536A>G (p.Leu512=)
|
rs1015773638
|
0.00001
|
NM_016156.6(MTMR2):c.1618C>T (p.Leu540=)
|
rs142687077
|
0.00001
|
NM_016156.6(MTMR2):c.186+16T>C
|
rs1325405868
|
0.00001
|
NM_016156.6(MTMR2):c.213A>G (p.Ala71=)
|
rs1402885565
|
0.00001
|
NM_016156.6(MTMR2):c.330T>C (p.Tyr110=)
|
rs777436469
|
0.00001
|
NM_016156.6(MTMR2):c.393G>C (p.Val131=)
|
rs757865509
|
0.00001
|
NM_016156.6(MTMR2):c.414T>C (p.Ile138=)
|
rs754358489
|
0.00001
|
NM_016156.6(MTMR2):c.469-9C>A
|
rs779741464
|
0.00001
|
NM_016156.6(MTMR2):c.507G>A (p.Gly169=)
|
rs753188177
|
0.00001
|
NM_016156.6(MTMR2):c.567C>T (p.Asn189=)
|
rs1864293535
|
0.00001
|
NM_016156.6(MTMR2):c.654+13T>C
|
rs1170437168
|
0.00001
|
NM_016156.6(MTMR2):c.75G>A (p.Leu25=)
|
rs1376231939
|
0.00001
|
NM_016156.6(MTMR2):c.81-4G>C
|
rs757563852
|
0.00001
|
NM_016156.6(MTMR2):c.81-7T>G
|
rs750842659
|
0.00001
|
NM_016156.6(MTMR2):c.984T>C (p.Val328=)
|
rs116691712
|
0.00001
|
NM_024577.4(SH3TC2):c.1002-8C>T
|
rs748766254
|
0.00001
|
NM_024577.4(SH3TC2):c.1029T>C (p.Asp343=)
|
rs779061354
|
0.00001
|
NM_024577.4(SH3TC2):c.1135+15T>G
|
rs765853048
|
0.00001
|
NM_024577.4(SH3TC2):c.1140G>C (p.Gly380=)
|
rs768932852
|
0.00001
|
NM_024577.4(SH3TC2):c.1177+14A>G
|
rs1217015867
|
0.00001
|
NM_024577.4(SH3TC2):c.122A>G (p.Lys41Arg)
|
rs759096245
|
0.00001
|
NM_024577.4(SH3TC2):c.1245G>A (p.Gly415=)
|
rs748870159
|
0.00001
|
NM_024577.4(SH3TC2):c.1287G>A (p.Glu429=)
|
rs1237348677
|
0.00001
|
NM_024577.4(SH3TC2):c.1305C>T (p.Thr435=)
|
rs774971119
|
0.00001
|
NM_024577.4(SH3TC2):c.1311C>T (p.Asp437=)
|
rs749587305
|
0.00001
|
NM_024577.4(SH3TC2):c.1320C>A (p.Arg440=)
|
rs1361033420
|
0.00001
|
NM_024577.4(SH3TC2):c.1325C>T (p.Pro442Leu)
|
rs370613184
|
0.00001
|
NM_024577.4(SH3TC2):c.1431G>A (p.Glu477=)
|
rs887057321
|
0.00001
|
NM_024577.4(SH3TC2):c.151+11G>A
|
rs773004267
|
0.00001
|
NM_024577.4(SH3TC2):c.152-14C>G
|
rs1019701436
|
0.00001
|
NM_024577.4(SH3TC2):c.1584C>T (p.Ala528=)
|
rs762967613
|
0.00001
|
NM_024577.4(SH3TC2):c.1632C>G (p.Leu544=)
|
rs771050155
|
0.00001
|
NM_024577.4(SH3TC2):c.1641C>T (p.Ala547=)
|
rs1265312422
|
0.00001
|
NM_024577.4(SH3TC2):c.182G>A (p.Arg61His)
|
rs376389928
|
0.00001
|
NM_024577.4(SH3TC2):c.183C>T (p.Arg61=)
|
rs1754494929
|
0.00001
|
NM_024577.4(SH3TC2):c.2017G>A (p.Ala673Thr)
|
rs201985394
|
0.00001
|
NM_024577.4(SH3TC2):c.2130G>A (p.Gln710=)
|
rs763652479
|
0.00001
|
NM_024577.4(SH3TC2):c.2247A>G (p.Glu749=)
|
rs375251955
|
0.00001
|
NM_024577.4(SH3TC2):c.2520C>T (p.Asn840=)
|
rs371588176
|
0.00001
|
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
|
rs1406112399
|
0.00001
|
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp)
|
rs147490172
|
0.00001
|
NM_024577.4(SH3TC2):c.2607G>A (p.Val869=)
|
rs771752979
|
0.00001
|
NM_024577.4(SH3TC2):c.264G>A (p.Val88=)
|
rs1337938229
|
0.00001
|
NM_024577.4(SH3TC2):c.280-4G>A
|
rs747321591
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+13C>T
|
rs1424568850
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+19G>T
|
rs569935040
|
0.00001
|
NM_024577.4(SH3TC2):c.2872+20C>T
|
rs372528082
|
0.00001
|
NM_024577.4(SH3TC2):c.2873-16C>T
|
rs1387099711
|
0.00001
|
NM_024577.4(SH3TC2):c.2907C>T (p.Phe969=)
|
rs1238822178
|
0.00001
|
NM_024577.4(SH3TC2):c.3034C>T (p.Arg1012Trp)
|
rs541197556
|
0.00001
|
NM_024577.4(SH3TC2):c.3048C>T (p.Thr1016=)
|
rs375266719
|
0.00001
|
NM_024577.4(SH3TC2):c.3204+17G>A
|
rs377068951
|
0.00001
|
NM_024577.4(SH3TC2):c.3295C>T (p.Arg1099Cys)
|
rs769907612
|
0.00001
|
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His)
|
rs748413646
|
0.00001
|
NM_024577.4(SH3TC2):c.3313G>A (p.Val1105Met)
|
rs750746661
|
0.00001
|
NM_024577.4(SH3TC2):c.3417C>T (p.Leu1139=)
|
rs367649953
|
0.00001
|
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=)
|
rs762263591
|
0.00001
|
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
|
rs747405272
|
0.00001
|
NM_024577.4(SH3TC2):c.3538C>A (p.His1180Asn)
|
rs201876002
|
0.00001
|
NM_024577.4(SH3TC2):c.3546T>C (p.Tyr1182=)
|
rs757190448
|
0.00001
|
NM_024577.4(SH3TC2):c.3549G>A (p.Glu1183=)
|
rs749235873
|
0.00001
|
NM_024577.4(SH3TC2):c.3676-15A>G
|
rs770644656
|
0.00001
|
NM_024577.4(SH3TC2):c.3681C>T (p.Ala1227=)
|
rs760036395
|
0.00001
|
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=)
|
rs777895612
|
0.00001
|
NM_024577.4(SH3TC2):c.390C>T (p.Tyr130=)
|
rs776623792
|
0.00001
|
NM_024577.4(SH3TC2):c.429G>A (p.Lys143=)
|
rs748964376
|
0.00001
|
NM_024577.4(SH3TC2):c.574G>A (p.Glu192Lys)
|
rs755054839
|
0.00001
|
NM_024577.4(SH3TC2):c.579G>A (p.Lys193=)
|
rs752087220
|
0.00001
|
NM_024577.4(SH3TC2):c.658G>A (p.Val220Met)
|
rs1428903431
|
0.00001
|
NM_024577.4(SH3TC2):c.702C>T (p.Ala234=)
|
rs1242725383
|
0.00001
|
NM_024577.4(SH3TC2):c.708G>A (p.Glu236=)
|
rs774923539
|
0.00001
|
NM_024577.4(SH3TC2):c.732-16A>G
|
rs201017707
|
0.00001
|
NM_024577.4(SH3TC2):c.789A>G (p.Thr263=)
|
rs780777249
|
0.00001
|
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met)
|
rs757969875
|
0.00001
|
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=)
|
rs773193703
|
0.00001
|
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)
|
rs144520038
|
0.00001
|
NM_030962.4(SBF2):c.1053+8G>A
|
rs779888479
|
0.00001
|
NM_030962.4(SBF2):c.1062G>A (p.Glu354=)
|
rs376956314
|
0.00001
|
NM_030962.4(SBF2):c.1071C>T (p.Ala357=)
|
rs775272908
|
0.00001
|
NM_030962.4(SBF2):c.1167+20T>C
|
rs1947507309
|
0.00001
|
NM_030962.4(SBF2):c.1168-10T>C
|
rs769153339
|
0.00001
|
NM_030962.4(SBF2):c.1236A>G (p.Ala412=)
|
rs1947481198
|
0.00001
|
NM_030962.4(SBF2):c.1296+12A>G
|
rs762099135
|
0.00001
|
NM_030962.4(SBF2):c.1296+7C>T
|
rs774033750
|
0.00001
|
NM_030962.4(SBF2):c.1386A>G (p.Leu462=)
|
rs774591496
|
0.00001
|
NM_030962.4(SBF2):c.141+9T>A
|
rs760322801
|
0.00001
|
NM_030962.4(SBF2):c.142-20T>G
|
rs748235053
|
0.00001
|
NM_030962.4(SBF2):c.1584A>G (p.Pro528=)
|
rs778311686
|
0.00001
|
NM_030962.4(SBF2):c.1593A>G (p.Pro531=)
|
rs1245602198
|
0.00001
|
NM_030962.4(SBF2):c.1635C>T (p.Asn545=)
|
rs1160157353
|
0.00001
|
NM_030962.4(SBF2):c.1653A>G (p.Glu551=)
|
rs942849510
|
0.00001
|
NM_030962.4(SBF2):c.1725A>C (p.Ala575=)
|
rs144514407
|
0.00001
|
NM_030962.4(SBF2):c.1770T>C (p.Asp590=)
|
rs149269991
|
0.00001
|
NM_030962.4(SBF2):c.1815T>C (p.His605=)
|
rs1388471263
|
0.00001
|
NM_030962.4(SBF2):c.1839G>A (p.Arg613=)
|
rs776414901
|
0.00001
|
NM_030962.4(SBF2):c.1854T>G (p.Thr618=)
|
rs1224103000
|
0.00001
|
NM_030962.4(SBF2):c.1860+12T>C
|
rs375954445
|
0.00001
|
NM_030962.4(SBF2):c.1893C>T (p.Ala631=)
|
rs760154688
|
0.00001
|
NM_030962.4(SBF2):c.192G>A (p.Thr64=)
|
rs763363470
|
0.00001
|
NM_030962.4(SBF2):c.2100+7G>A
|
rs370918433
|
0.00001
|
NM_030962.4(SBF2):c.2181G>A (p.Leu727=)
|
rs1376193402
|
0.00001
|
NM_030962.4(SBF2):c.2259C>T (p.Leu753=)
|
rs771467991
|
0.00001
|
NM_030962.4(SBF2):c.2269C>T (p.Leu757=)
|
rs370321615
|
0.00001
|
NM_030962.4(SBF2):c.2283C>T (p.Leu761=)
|
rs781716972
|
0.00001
|
NM_030962.4(SBF2):c.2394T>C (p.Asp798=)
|
rs767309728
|
0.00001
|
NM_030962.4(SBF2):c.2523T>C (p.His841=)
|
rs143617524
|
0.00001
|
NM_030962.4(SBF2):c.2610+11A>G
|
rs375912268
|
0.00001
|
NM_030962.4(SBF2):c.2619T>C (p.Ile873=)
|
rs1168090388
|
0.00001
|
NM_030962.4(SBF2):c.2806+20C>T
|
rs760777294
|
0.00001
|
NM_030962.4(SBF2):c.2807-10C>G
|
rs1392834610
|
0.00001
|
NM_030962.4(SBF2):c.2934+7A>C
|
rs1475155503
|
0.00001
|
NM_030962.4(SBF2):c.30G>A (p.Val10=)
|
rs1398535918
|
0.00001
|
NM_030962.4(SBF2):c.3165T>C (p.Ile1055=)
|
rs1478321308
|
0.00001
|
NM_030962.4(SBF2):c.3189G>A (p.Lys1063=)
|
rs889481914
|
0.00001
|
NM_030962.4(SBF2):c.318G>A (p.Val106=)
|
rs757678568
|
0.00001
|
NM_030962.4(SBF2):c.3257-10A>T
|
rs1348371983
|
0.00001
|
NM_030962.4(SBF2):c.3474C>T (p.Val1158=)
|
rs376295625
|
0.00001
|
NM_030962.4(SBF2):c.354C>T (p.Pro118=)
|
rs371771984
|
0.00001
|
NM_030962.4(SBF2):c.3615C>T (p.Val1205=)
|
rs751734412
|
0.00001
|
NM_030962.4(SBF2):c.3651C>T (p.Ala1217=)
|
rs550913752
|
0.00001
|
NM_030962.4(SBF2):c.3652+15A>G
|
rs367955902
|
0.00001
|
NM_030962.4(SBF2):c.3762T>G (p.Leu1254=)
|
rs776896848
|
0.00001
|
NM_030962.4(SBF2):c.3794-19G>A
|
rs779377326
|
0.00001
|
NM_030962.4(SBF2):c.3876C>A (p.Gly1292=)
|
rs778401534
|
0.00001
|
NM_030962.4(SBF2):c.3979-20C>A
|
rs1176068872
|
0.00001
|
NM_030962.4(SBF2):c.402+5A>G
|
rs1060503800
|
0.00001
|
NM_030962.4(SBF2):c.4113G>A (p.Val1371=)
|
rs1195911510
|
0.00001
|
NM_030962.4(SBF2):c.4119C>T (p.Phe1373=)
|
rs772473795
|
0.00001
|
NM_030962.4(SBF2):c.4156-12C>G
|
rs779854941
|
0.00001
|
NM_030962.4(SBF2):c.4156-15C>T
|
rs746693765
|
0.00001
|
NM_030962.4(SBF2):c.4156-5C>G
|
rs966658773
|
0.00001
|
NM_030962.4(SBF2):c.4266C>T (p.Ser1422=)
|
rs763445946
|
0.00001
|
NM_030962.4(SBF2):c.4335G>A (p.Glu1445=)
|
rs1370306059
|
0.00001
|
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=)
|
rs1347990916
|
0.00001
|
NM_030962.4(SBF2):c.4443+20G>A
|
rs370632930
|
0.00001
|
NM_030962.4(SBF2):c.4509C>T (p.His1503=)
|
rs138816399
|
0.00001
|
NM_030962.4(SBF2):c.4570+11G>A
|
rs370065558
|
0.00001
|
NM_030962.4(SBF2):c.4659C>T (p.Pro1553=)
|
rs368478401
|
0.00001
|
NM_030962.4(SBF2):c.4795C>T (p.Leu1599=)
|
rs926646414
|
0.00001
|
NM_030962.4(SBF2):c.4818C>T (p.Ser1606=)
|
rs760444889
|
0.00001
|
NM_030962.4(SBF2):c.4920C>T (p.Thr1640=)
|
rs1222175198
|
0.00001
|
NM_030962.4(SBF2):c.504A>T (p.Gly168=)
|
rs781537575
|
0.00001
|
NM_030962.4(SBF2):c.5064A>G (p.Pro1688=)
|
rs766646551
|
0.00001
|
NM_030962.4(SBF2):c.5073G>T (p.Val1691=)
|
rs373722394
|
0.00001
|
NM_030962.4(SBF2):c.5193G>A (p.Thr1731=)
|
rs764147377
|
0.00001
|
NM_030962.4(SBF2):c.5231+19C>T
|
rs1250788397
|
0.00001
|
NM_030962.4(SBF2):c.5247A>G (p.Thr1749=)
|
rs1257156187
|
0.00001
|
NM_030962.4(SBF2):c.5286C>T (p.Pro1762=)
|
rs138850562
|
0.00001
|
NM_030962.4(SBF2):c.5319+18A>C
|
rs577375809
|
0.00001
|
NM_030962.4(SBF2):c.5452-14A>G
|
rs745519807
|
0.00001
|
NM_030962.4(SBF2):c.5452-5T>C
|
rs773935983
|
0.00001
|
NM_030962.4(SBF2):c.55+9G>T
|
rs1449265617
|
0.00001
|
NM_030962.4(SBF2):c.620-9T>C
|
rs199676895
|
0.00001
|
NM_030962.4(SBF2):c.72G>T (p.Leu24=)
|
rs1352614927
|
0.00001
|
NM_030962.4(SBF2):c.756T>C (p.Tyr252=)
|
rs764753779
|
0.00001
|
NM_030962.4(SBF2):c.822T>C (p.Ile274=)
|
rs776897720
|
0.00001
|
NM_030962.4(SBF2):c.861+7A>G
|
rs546454057
|
0.00001
|
NM_030962.4(SBF2):c.90A>G (p.Arg30=)
|
rs551470384
|
0.00001
|
NM_030962.4(SBF2):c.936A>G (p.Pro312=)
|
rs765770300
|
0.00001
|
NM_181882.3(PRX):c.1011G>C (p.Leu337=)
|
rs1156439031
|
0.00001
|
NM_181882.3(PRX):c.1113A>G (p.Glu371=)
|
rs137930942
|
0.00001
|
NM_181882.3(PRX):c.1119T>C (p.Ala373=)
|
rs779189309
|
0.00001
|
NM_181882.3(PRX):c.120G>A (p.Glu40=)
|
rs748206641
|
0.00001
|
NM_181882.3(PRX):c.1215C>T (p.Pro405=)
|
rs377184301
|
0.00001
|
NM_181882.3(PRX):c.1245G>C (p.Leu415=)
|
rs2079447078
|
0.00001
|
NM_181882.3(PRX):c.1251G>T (p.Leu417=)
|
rs751470543
|
0.00001
|
NM_181882.3(PRX):c.1269C>G (p.Pro423=)
|
rs201031197
|
0.00001
|
NM_181882.3(PRX):c.1308G>A (p.Val436=)
|
rs771496284
|
0.00001
|
NM_181882.3(PRX):c.1647G>C (p.Pro549=)
|
rs202113722
|
0.00001
|
NM_181882.3(PRX):c.1656A>G (p.Ser552=)
|
rs1568707640
|
0.00001
|
NM_181882.3(PRX):c.1749T>G (p.Pro583=)
|
rs1234792110
|
0.00001
|
NM_181882.3(PRX):c.184+10C>G
|
rs1283752580
|
0.00001
|
NM_181882.3(PRX):c.1842C>A (p.Pro614=)
|
rs559655526
|
0.00001
|
NM_181882.3(PRX):c.185-4G>A
|
rs1322328826
|
0.00001
|
NM_181882.3(PRX):c.185-8G>A
|
rs768814221
|
0.00001
|
NM_181882.3(PRX):c.1971G>A (p.Val657=)
|
rs766837777
|
0.00001
|
NM_181882.3(PRX):c.2040C>T (p.Leu680=)
|
rs140717633
|
0.00001
|
NM_181882.3(PRX):c.2268G>A (p.Pro756=)
|
rs570227186
|
0.00001
|
NM_181882.3(PRX):c.2280G>T (p.Val760=)
|
rs781372987
|
0.00001
|
NM_181882.3(PRX):c.2283G>A (p.Pro761=)
|
rs1340076007
|
0.00001
|
NM_181882.3(PRX):c.2307G>A (p.Pro769=)
|
rs148655811
|
0.00001
|
NM_181882.3(PRX):c.2421C>T (p.Pro807=)
|
rs752259641
|
0.00001
|
NM_181882.3(PRX):c.2505C>T (p.Pro835=)
|
rs1385769822
|
0.00001
|
NM_181882.3(PRX):c.2523G>A (p.Val841=)
|
rs780710089
|
0.00001
|
NM_181882.3(PRX):c.2619C>T (p.Ala873=)
|
rs761066015
|
0.00001
|
NM_181882.3(PRX):c.2697C>A (p.Pro899=)
|
rs778762350
|
0.00001
|
NM_181882.3(PRX):c.2841G>A (p.Glu947=)
|
rs771912595
|
0.00001
|
NM_181882.3(PRX):c.2967C>T (p.Leu989=)
|
rs1057522657
|
0.00001
|
NM_181882.3(PRX):c.3252G>A (p.Gly1084=)
|
rs1364023547
|
0.00001
|
NM_181882.3(PRX):c.3261T>C (p.Ala1087=)
|
rs1412558420
|
0.00001
|
NM_181882.3(PRX):c.3270C>T (p.Thr1090=)
|
rs764866078
|
0.00001
|
NM_181882.3(PRX):c.3309G>T (p.Thr1103=)
|
rs557336965
|
0.00001
|
NM_181882.3(PRX):c.3315C>T (p.Gly1105=)
|
rs762102597
|
0.00001
|
NM_181882.3(PRX):c.333C>G (p.Thr111=)
|
rs764439512
|
0.00001
|
NM_181882.3(PRX):c.3351C>T (p.Ala1117=)
|
rs535934188
|
0.00001
|
NM_181882.3(PRX):c.3366G>A (p.Gln1122=)
|
rs952933935
|
0.00001
|
NM_181882.3(PRX):c.3375C>T (p.Gly1125=)
|
rs755560307
|
0.00001
|
NM_181882.3(PRX):c.3405C>T (p.Val1135=)
|
rs1359310179
|
0.00001
|
NM_181882.3(PRX):c.345C>T (p.Tyr115=)
|
rs774364484
|
0.00001
|
NM_181882.3(PRX):c.3483G>A (p.Gly1161=)
|
rs1344913169
|
0.00001
|
NM_181882.3(PRX):c.354G>A (p.Lys118=)
|
rs1044654884
|
0.00001
|
NM_181882.3(PRX):c.360G>T (p.Pro120=)
|
rs142003722
|
0.00001
|
NM_181882.3(PRX):c.3630C>G (p.Val1210=)
|
rs1305658668
|
0.00001
|
NM_181882.3(PRX):c.3717C>T (p.Gly1239=)
|
rs764955913
|
0.00001
|
NM_181882.3(PRX):c.3726G>T (p.Gly1242=)
|
rs775170011
|
0.00001
|
NM_181882.3(PRX):c.3756C>T (p.Ala1252=)
|
rs567256423
|
0.00001
|
NM_181882.3(PRX):c.3843C>A (p.Leu1281=)
|
rs369372933
|
0.00001
|
NM_181882.3(PRX):c.3849A>G (p.Pro1283=)
|
rs757247849
|
0.00001
|
NM_181882.3(PRX):c.3963G>A (p.Glu1321=)
|
rs781159482
|
0.00001
|
NM_181882.3(PRX):c.3966G>A (p.Glu1322=)
|
rs1364542566
|
0.00001
|
NM_181882.3(PRX):c.4047C>T (p.Ser1349=)
|
rs759882475
|
0.00001
|
NM_181882.3(PRX):c.486G>A (p.Lys162=)
|
rs2079457857
|
0.00001
|
NM_181882.3(PRX):c.627C>T (p.Ala209=)
|
rs761085934
|
0.00001
|
NM_181882.3(PRX):c.648A>G (p.Lys216=)
|
rs1199712298
|
0.00001
|
NM_181882.3(PRX):c.669G>T (p.Val223=)
|
rs1433628210
|
0.00001
|
NM_181882.3(PRX):c.732G>A (p.Ala244=)
|
rs769735682
|
0.00001
|
NM_181882.3(PRX):c.75G>A (p.Ala25=)
|
rs766160977
|
0.00001
|
NM_181882.3(PRX):c.81C>T (p.Thr27=)
|
rs988404691
|
0.00001
|
NM_181882.3(PRX):c.825C>T (p.Leu275=)
|
rs753268672
|
0.00001
|
NM_181882.3(PRX):c.834G>A (p.Pro278=)
|
rs759984063
|
0.00001
|
NM_181882.3(PRX):c.936A>G (p.Leu312=)
|
rs752086513
|
0.00001
|
NM_001370298.3(FGD4):c.1005G>A (p.Glu335=)
|
|
|
NM_001370298.3(FGD4):c.1011+13A>G
|
rs2136436231
|
|
NM_001370298.3(FGD4):c.1012-11C>G
|
|
|
NM_001370298.3(FGD4):c.1012-12T>C
|
|
|
NM_001370298.3(FGD4):c.1012-19A>C
|
rs779138200
|
|
NM_001370298.3(FGD4):c.1012-19A>G
|
|
|
NM_001370298.3(FGD4):c.1014G>A (p.Glu338=)
|
|
|
NM_001370298.3(FGD4):c.1071T>G (p.Ala357=)
|
rs781493748
|
|
NM_001370298.3(FGD4):c.1077C>T (p.Val359=)
|
|
|
NM_001370298.3(FGD4):c.1101+7T>A
|
|
|
NM_001370298.3(FGD4):c.1102-20T>C
|
|
|
NM_001370298.3(FGD4):c.1102-4T>G
|
|
|
NM_001370298.3(FGD4):c.1102-6A>G
|
|
|
NM_001370298.3(FGD4):c.1113C>T (p.Cys371=)
|
rs1023107131
|
|
NM_001370298.3(FGD4):c.1200C>T (p.Phe400=)
|
|
|
NM_001370298.3(FGD4):c.1248-11A>G
|
|
|
NM_001370298.3(FGD4):c.1248-19T>G
|
|
|
NM_001370298.3(FGD4):c.1248-4A>G
|
|
|
NM_001370298.3(FGD4):c.1248-7G>A
|
rs2136658308
|
|
NM_001370298.3(FGD4):c.1248-9T>A
|
rs2136658280
|
|
NM_001370298.3(FGD4):c.1284A>G (p.Lys428=)
|
rs1224103433
|
|
NM_001370298.3(FGD4):c.1344A>G (p.Glu448=)
|
rs1160194150
|
|
NM_001370298.3(FGD4):c.1368T>A (p.Arg456=)
|
|
|
NM_001370298.3(FGD4):c.1404+20C>T
|
|
|
NM_001370298.3(FGD4):c.1405-7A>T
|
|
|
NM_001370298.3(FGD4):c.1413A>G (p.Lys471=)
|
rs2136723717
|
|
NM_001370298.3(FGD4):c.1470C>A (p.Pro490=)
|
rs16920084
|
|
NM_001370298.3(FGD4):c.1543+17del
|
rs548627916
|
|
NM_001370298.3(FGD4):c.1543+18del
|
|
|
NM_001370298.3(FGD4):c.1543+8C>T
|
rs75622900
|
|
NM_001370298.3(FGD4):c.1543+9T>C
|
|
|
NM_001370298.3(FGD4):c.1544-17del
|
|
|
NM_001370298.3(FGD4):c.1544-19T>G
|
|
|
NM_001370298.3(FGD4):c.1545A>G (p.Lys515=)
|
|
|
NM_001370298.3(FGD4):c.1548A>G (p.Ser516=)
|
|
|
NM_001370298.3(FGD4):c.1603-9A>T
|
rs1555217855
|
|
NM_001370298.3(FGD4):c.1605G>A (p.Glu535=)
|
rs746263549
|
|
NM_001370298.3(FGD4):c.1608C>T (p.Asn536=)
|
|
|
NM_001370298.3(FGD4):c.1609C>T (p.Leu537=)
|
rs750265200
|
|
NM_001370298.3(FGD4):c.1632T>C (p.Tyr544=)
|
|
|
NM_001370298.3(FGD4):c.167-62037C>A
|
rs79370524
|
|
NM_001370298.3(FGD4):c.1749+11T>C
|
rs1195832498
|
|
NM_001370298.3(FGD4):c.1749+15G>A
|
|
|
NM_001370298.3(FGD4):c.1749+18G>C
|
rs2136769839
|
|
NM_001370298.3(FGD4):c.1750-11G>A
|
|
|
NM_001370298.3(FGD4):c.1755C>T (p.Asn585=)
|
rs2136878570
|
|
NM_001370298.3(FGD4):c.1788C>T (p.Ser596=)
|
|
|
NM_001370298.3(FGD4):c.1866A>G (p.Glu622=)
|
|
|
NM_001370298.3(FGD4):c.1893G>A (p.Gly631=)
|
|
|
NM_001370298.3(FGD4):c.1922+10C>T
|
|
|
NM_001370298.3(FGD4):c.1923-6_1923-2del
|
rs1950025678
|
|
NM_001370298.3(FGD4):c.1923-7A>T
|
|
|
NM_001370298.3(FGD4):c.1929G>T (p.Ala643=)
|
rs11052110
|
|
NM_001370298.3(FGD4):c.1953+7C>G
|
rs1408854259
|
|
NM_001370298.3(FGD4):c.2046+15A>G
|
rs2136939057
|
|
NM_001370298.3(FGD4):c.2055G>A (p.Glu685=)
|
rs2136945519
|
|
NM_001370298.3(FGD4):c.2070C>A (p.Ala690=)
|
rs188104446
|
|
NM_001370298.3(FGD4):c.2076A>G (p.Arg692=)
|
|
|
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr)
|
rs144693221
|
|
NM_001370298.3(FGD4):c.2130T>C (p.Asn710=)
|
rs1462411791
|
|
NM_001370298.3(FGD4):c.2169A>C (p.Gly723=)
|
rs200761894
|
|
NM_001370298.3(FGD4):c.2172+11T>C
|
|
|
NM_001370298.3(FGD4):c.2172+18A>G
|
|
|
NM_001370298.3(FGD4):c.2172+7del
|
|
|
NM_001370298.3(FGD4):c.2173-19T>C
|
|
|
NM_001370298.3(FGD4):c.2230T>C (p.Leu744=)
|
|
|
NM_001370298.3(FGD4):c.2262C>T (p.Ile754=)
|
rs1269801867
|
|
NM_001370298.3(FGD4):c.2292G>A (p.Lys764=)
|
|
|
NM_001370298.3(FGD4):c.2314-18T>G
|
|
|
NM_001370298.3(FGD4):c.2325A>G (p.Ala775=)
|
|
|
NM_001370298.3(FGD4):c.2346G>T (p.Val782=)
|
rs1950988125
|
|
NM_001370298.3(FGD4):c.2361T>G (p.Leu787=)
|
rs1358873743
|
|
NM_001370298.3(FGD4):c.2421C>T (p.Asp807=)
|
|
|
NM_001370298.3(FGD4):c.2433G>A (p.Leu811=)
|
rs2137076847
|
|
NM_001370298.3(FGD4):c.2451C>T (p.Pro817=)
|
rs1314359233
|
|
NM_001370298.3(FGD4):c.2454+19T>A
|
rs1950996056
|
|
NM_001370298.3(FGD4):c.2455-10T>C
|
rs1592514932
|
|
NM_001370298.3(FGD4):c.2455-7T>C
|
rs2137091888
|
|
NM_001370298.3(FGD4):c.2457C>T (p.Asp819=)
|
|
|
NM_001370298.3(FGD4):c.2472C>T (p.Ala824=)
|
rs370230063
|
|
NM_001370298.3(FGD4):c.2475C>T (p.Thr825=)
|
rs1356498279
|
|
NM_001370298.3(FGD4):c.2490C>T (p.Gly830=)
|
rs1951094637
|
|
NM_001370298.3(FGD4):c.2562G>T (p.Val854=)
|
rs969579366
|
|
NM_001370298.3(FGD4):c.2679T>C (p.Asp893=)
|
|
|
NM_001370298.3(FGD4):c.2700A>G (p.Lys900=)
|
|
|
NM_001370298.3(FGD4):c.417G>A (p.Glu139=)
|
rs1946127489
|
|
NM_001370298.3(FGD4):c.435T>A (p.Ser145=)
|
|
|
NM_001370298.3(FGD4):c.468G>A (p.Lys156=)
|
rs1427707678
|
|
NM_001370298.3(FGD4):c.504-20C>G
|
rs1592293275
|
|
NM_001370298.3(FGD4):c.504-8T>C
|
|
|
NM_001370298.3(FGD4):c.504-9A>G
|
|
|
NM_001370298.3(FGD4):c.510A>G (p.Leu170=)
|
|
|
NM_001370298.3(FGD4):c.600A>G (p.Gln200=)
|
|
|
NM_001370298.3(FGD4):c.609C>A (p.Leu203=)
|
|
|
NM_001370298.3(FGD4):c.621C>T (p.His207=)
|
|
|
NM_001370298.3(FGD4):c.675T>C (p.Cys225=)
|
|
|
NM_001370298.3(FGD4):c.696A>C (p.Ala232=)
|
rs2136433041
|
|
NM_001370298.3(FGD4):c.720G>A (p.Glu240=)
|
rs1232883602
|
|
NM_001370298.3(FGD4):c.798T>C (p.Asn266=)
|
|
|
NM_001370298.3(FGD4):c.828T>A (p.Pro276=)
|
rs1295234161
|
|
NM_001370298.3(FGD4):c.831A>G (p.Ala277=)
|
|
|
NM_001370298.3(FGD4):c.840A>C (p.Thr280=)
|
|
|
NM_001370298.3(FGD4):c.867T>C (p.Ser289=)
|
|
|
NM_001370298.3(FGD4):c.888A>G (p.Pro296=)
|
|
|
NM_001370298.3(FGD4):c.996G>A (p.Gln332=)
|
|
|
NM_006096.4(NDRG1):c.100-12G>A
|
|
|
NM_006096.4(NDRG1):c.100-20T>C
|
|
|
NM_006096.4(NDRG1):c.100-23_100-17del
|
|
|
NM_006096.4(NDRG1):c.100-5C>T
|
rs1856826865
|
|
NM_006096.4(NDRG1):c.100-6C>T
|
rs1586451965
|
|
NM_006096.4(NDRG1):c.1002C>T (p.Val334=)
|
rs1855233290
|
|
NM_006096.4(NDRG1):c.1008T>C (p.Ser336=)
|
|
|
NM_006096.4(NDRG1):c.1009C>T (p.Leu337=)
|
|
|
NM_006096.4(NDRG1):c.1011G>A (p.Leu337=)
|
rs1287183324
|
|
NM_006096.4(NDRG1):c.1020C>T (p.Thr340=)
|
rs2130656201
|
|
NM_006096.4(NDRG1):c.1023C>A (p.Arg341=)
|
|
|
NM_006096.4(NDRG1):c.1029C>T (p.Arg343=)
|
|
|
NM_006096.4(NDRG1):c.1035C>T (p.His345=)
|
rs2130656081
|
|
NM_006096.4(NDRG1):c.1038C>A (p.Thr346=)
|
rs1198581271
|
|
NM_006096.4(NDRG1):c.1041C>T (p.Ser347=)
|
rs1467447359
|
|
NM_006096.4(NDRG1):c.1050C>T (p.Thr350=)
|
|
|
NM_006096.4(NDRG1):c.1071C>T (p.Ser357=)
|
|
|
NM_006096.4(NDRG1):c.1077_1106dup (p.340TRSRSHTSEG[4])
|
rs1554747463
|
|
NM_006096.4(NDRG1):c.1080C>T (p.Thr360=)
|
|
|
NM_006096.4(NDRG1):c.1083C>A (p.Arg361=)
|
rs541812355
|
|
NM_006096.4(NDRG1):c.1086C>T (p.Ser362=)
|
rs1189614460
|
|
NM_006096.4(NDRG1):c.1089C>T (p.Arg363=)
|
rs1855222014
|
|
NM_006096.4(NDRG1):c.1092G>A (p.Ser364=)
|
rs578199680
|
|
NM_006096.4(NDRG1):c.1092G>C (p.Ser364=)
|
rs578199680
|
|
NM_006096.4(NDRG1):c.1095C>T (p.His365=)
|
rs1278753145
|
|
NM_006096.4(NDRG1):c.1107G>A (p.Gly369=)
|
|
|
NM_006096.4(NDRG1):c.1107G>T (p.Gly369=)
|
|
|
NM_006096.4(NDRG1):c.1116G>T (p.Leu372=)
|
|
|
NM_006096.4(NDRG1):c.1155C>G (p.Ala385=)
|
rs774605205
|
|
NM_006096.4(NDRG1):c.1161C>A (p.Pro387=)
|
|
|
NM_006096.4(NDRG1):c.1161C>G (p.Pro387=)
|
|
|
NM_006096.4(NDRG1):c.1164G>A (p.Lys388=)
|
|
|
NM_006096.4(NDRG1):c.1167C>G (p.Ser389=)
|
|
|
NM_006096.4(NDRG1):c.1173G>A (p.Glu391=)
|
|
|
NM_006096.4(NDRG1):c.1176C>G (p.Val392=)
|
rs2130655008
|
|
NM_006096.4(NDRG1):c.126C>A (p.Gly42=)
|
|
|
NM_006096.4(NDRG1):c.126C>T (p.Gly42=)
|
|
|
NM_006096.4(NDRG1):c.138C>T (p.Val46=)
|
|
|
NM_006096.4(NDRG1):c.142C>T (p.Leu48=)
|
|
|
NM_006096.4(NDRG1):c.144G>A (p.Leu48=)
|
|
|
NM_006096.4(NDRG1):c.144G>C (p.Leu48=)
|
rs1856822376
|
|
NM_006096.4(NDRG1):c.162A>G (p.Gly54=)
|
rs751655132
|
|
NM_006096.4(NDRG1):c.168G>T (p.Arg56=)
|
rs2130743140
|
|
NM_006096.4(NDRG1):c.183C>T (p.Thr61=)
|
|
|
NM_006096.4(NDRG1):c.18G>A (p.Gln6=)
|
rs951266228
|
|
NM_006096.4(NDRG1):c.205+10G>A
|
rs2130742953
|
|
NM_006096.4(NDRG1):c.205+8C>A
|
|
|
NM_006096.4(NDRG1):c.205+8_205+11del
|
|
|
NM_006096.4(NDRG1):c.206-11C>A
|
|
|
NM_006096.4(NDRG1):c.206-14C>T
|
|
|
NM_006096.4(NDRG1):c.206-16C>T
|
|
|
NM_006096.4(NDRG1):c.206-8T>C
|
rs766314244
|
|
NM_006096.4(NDRG1):c.206-9G>C
|
rs994259747
|
|
NM_006096.4(NDRG1):c.225C>G (p.Pro75=)
|
|
|
NM_006096.4(NDRG1):c.228C>T (p.Leu76=)
|
rs1586446509
|
|
NM_006096.4(NDRG1):c.231C>T (p.Phe77=)
|
rs2130736303
|
|
NM_006096.4(NDRG1):c.258C>T (p.Thr86=)
|
rs2130736192
|
|
NM_006096.4(NDRG1):c.267T>C (p.Phe89=)
|
|
|
NM_006096.4(NDRG1):c.276C>T (p.Cys92=)
|
rs1272995021
|
|
NM_006096.4(NDRG1):c.297G>A (p.Gln99=)
|
rs2130736044
|
|
NM_006096.4(NDRG1):c.306C>A (p.Gly102=)
|
rs2233322
|
|
NM_006096.4(NDRG1):c.30C>A (p.Leu10=)
|
rs758205425
|
|
NM_006096.4(NDRG1):c.312C>G (p.Ala104=)
|
|
|
NM_006096.4(NDRG1):c.321C>G (p.Pro107=)
|
rs1403681249
|
|
NM_006096.4(NDRG1):c.326+12C>T
|
|
|
NM_006096.4(NDRG1):c.326+13T>A
|
|
|
NM_006096.4(NDRG1):c.326+14T>C
|
|
|
NM_006096.4(NDRG1):c.326+20A>G
|
|
|
NM_006096.4(NDRG1):c.326+4AG[3]
|
rs2130735865
|
|
NM_006096.4(NDRG1):c.326+8G>T
|
|
|
NM_006096.4(NDRG1):c.326+9C>G
|
|
|
NM_006096.4(NDRG1):c.327-13G>C
|
|
|
NM_006096.4(NDRG1):c.327-19T>G
|
|
|
NM_006096.4(NDRG1):c.327-20C>T
|
|
|
NM_006096.4(NDRG1):c.327-4C>G
|
|
|
NM_006096.4(NDRG1):c.327-5C>T
|
|
|
NM_006096.4(NDRG1):c.339C>G (p.Pro113=)
|
|
|
NM_006096.4(NDRG1):c.339C>T (p.Pro113=)
|
rs1724822357
|
|
NM_006096.4(NDRG1):c.342C>G (p.Ser114=)
|
|
|
NM_006096.4(NDRG1):c.351G>A (p.Gln117=)
|
rs2130727456
|
|
NM_006096.4(NDRG1):c.378T>C (p.Leu126=)
|
|
|
NM_006096.4(NDRG1):c.381A>G (p.Gln127=)
|
|
|
NM_006096.4(NDRG1):c.389+17A>G
|
|
|
NM_006096.4(NDRG1):c.389+18G>C
|
|
|
NM_006096.4(NDRG1):c.390-16G>T
|
|
|
NM_006096.4(NDRG1):c.390-19T>C
|
|
|
NM_006096.4(NDRG1):c.390-20A>G
|
|
|
NM_006096.4(NDRG1):c.390-5T>C
|
|
|
NM_006096.4(NDRG1):c.417A>G (p.Thr139=)
|
|
|
NM_006096.4(NDRG1):c.426C>T (p.Gly142=)
|
rs370604799
|
|
NM_006096.4(NDRG1):c.429C>T (p.Ala143=)
|
|
|
NM_006096.4(NDRG1):c.432C>T (p.Tyr144=)
|
rs535684670
|
|
NM_006096.4(NDRG1):c.448G>T (p.Ala150Ser)
|
rs150796527
|
|
NM_006096.4(NDRG1):c.450+10T>G
|
|
|
NM_006096.4(NDRG1):c.450+12G>C
|
|
|
NM_006096.4(NDRG1):c.450+14C>T
|
|
|
NM_006096.4(NDRG1):c.450+8C>T
|
|
|
NM_006096.4(NDRG1):c.450+9T>C
|
rs1177638934
|
|
NM_006096.4(NDRG1):c.451-14G>A
|
|
|
NM_006096.4(NDRG1):c.451-14G>T
|
|
|
NM_006096.4(NDRG1):c.451-20C>G
|
|
|
NM_006096.4(NDRG1):c.451-7A>T
|
|
|
NM_006096.4(NDRG1):c.453A>G (p.Leu151=)
|
rs776744445
|
|
NM_006096.4(NDRG1):c.483C>A (p.Val161=)
|
|
|
NM_006096.4(NDRG1):c.483C>G (p.Val161=)
|
rs778902905
|
|
NM_006096.4(NDRG1):c.486T>C (p.Leu162=)
|
|
|
NM_006096.4(NDRG1):c.501T>C (p.Pro167=)
|
rs2130719778
|
|
NM_006096.4(NDRG1):c.501T>G (p.Pro167=)
|
rs2130719778
|
|
NM_006096.4(NDRG1):c.528C>G (p.Ala176=)
|
rs191237702
|
|
NM_006096.4(NDRG1):c.537+16G>A
|
|
|
NM_006096.4(NDRG1):c.537+6dup
|
|
|
NM_006096.4(NDRG1):c.537+7T>G
|
|
|
NM_006096.4(NDRG1):c.537+8G>T
|
rs537844639
|
|
NM_006096.4(NDRG1):c.538-8C>T
|
|
|
NM_006096.4(NDRG1):c.538-9C>T
|
rs978424192
|
|
NM_006096.4(NDRG1):c.543A>G (p.Ser181=)
|
|
|
NM_006096.4(NDRG1):c.543A>T (p.Ser181=)
|
|
|
NM_006096.4(NDRG1):c.552C>G (p.Thr184=)
|
rs2130712948
|
|
NM_006096.4(NDRG1):c.555A>G (p.Gln185=)
|
|
|
NM_006096.4(NDRG1):c.561G>A (p.Leu187=)
|
rs2130712881
|
|
NM_006096.4(NDRG1):c.567C>T (p.Asp189=)
|
|
|
NM_006096.4(NDRG1):c.573G>A (p.Val191=)
|
|
|
NM_006096.4(NDRG1):c.579C>T (p.Ser193=)
|
rs1586430771
|
|
NM_006096.4(NDRG1):c.594+10G>A
|
rs751843731
|
|
NM_006096.4(NDRG1):c.594+12G>C
|
|
|
NM_006096.4(NDRG1):c.595-10C>A
|
rs2130698932
|
|
NM_006096.4(NDRG1):c.595-13T>G
|
|
|
NM_006096.4(NDRG1):c.595-14C>G
|
|
|
NM_006096.4(NDRG1):c.595-15C>T
|
|
|
NM_006096.4(NDRG1):c.595-16A>G
|
|
|
NM_006096.4(NDRG1):c.595-17C>T
|
|
|
NM_006096.4(NDRG1):c.606G>A (p.Gln202=)
|
rs2130698846
|
|
NM_006096.4(NDRG1):c.609T>C (p.Ser203=)
|
|
|
NM_006096.4(NDRG1):c.627C>T (p.His209=)
|
rs1219241276
|
|
NM_006096.4(NDRG1):c.63+19G>C
|
|
|
NM_006096.4(NDRG1):c.63+7G>A
|
rs1857974705
|
|
NM_006096.4(NDRG1):c.63+8G>A
|
rs907196948
|
|
NM_006096.4(NDRG1):c.63+9A>C
|
rs2130794843
|
|
NM_006096.4(NDRG1):c.636C>T (p.Arg212=)
|
rs2130698716
|
|
NM_006096.4(NDRG1):c.64-10C>G
|
rs1857714894
|
|
NM_006096.4(NDRG1):c.64-12G>T
|
|
|
NM_006096.4(NDRG1):c.64-20T>C
|
|
|
NM_006096.4(NDRG1):c.642C>T (p.His214=)
|
rs567996488
|
|
NM_006096.4(NDRG1):c.648G>A (p.Val216=)
|
rs2130698643
|
|
NM_006096.4(NDRG1):c.651T>C (p.Asn217=)
|
rs1586421765
|
|
NM_006096.4(NDRG1):c.663C>G (p.Pro221=)
|
rs377225752
|
|
NM_006096.4(NDRG1):c.666C>A (p.Gly222=)
|
rs1432095364
|
|
NM_006096.4(NDRG1):c.66C>A (p.Thr22=)
|
rs750023131
|
|
NM_006096.4(NDRG1):c.66C>G (p.Thr22=)
|
rs750023131
|
|
NM_006096.4(NDRG1):c.676C>T (p.Leu226=)
|
rs1158911089
|
|
NM_006096.4(NDRG1):c.678G>A (p.Leu226=)
|
rs1398835960
|
|
NM_006096.4(NDRG1):c.687T>C (p.Asn229=)
|
rs2130698426
|
|
NM_006096.4(NDRG1):c.690C>G (p.Ala230=)
|
|
|
NM_006096.4(NDRG1):c.698+10T>C
|
rs1330639454
|
|
NM_006096.4(NDRG1):c.698+11G>A
|
|
|
NM_006096.4(NDRG1):c.698+12T>C
|
|
|
NM_006096.4(NDRG1):c.698+14G>A
|
|
|
NM_006096.4(NDRG1):c.698+7G>T
|
rs2130698384
|
|
NM_006096.4(NDRG1):c.698+8G>A
|
|
|
NM_006096.4(NDRG1):c.699-11G>A
|
|
|
NM_006096.4(NDRG1):c.699-11G>T
|
|
|
NM_006096.4(NDRG1):c.699-13_699-12del
|
|
|
NM_006096.4(NDRG1):c.699-15A>G
|
|
|
NM_006096.4(NDRG1):c.699-16C>T
|
|
|
NM_006096.4(NDRG1):c.699-18T>A
|
rs2130692819
|
|
NM_006096.4(NDRG1):c.699-19A>C
|
|
|
NM_006096.4(NDRG1):c.699-19del
|
|
|
NM_006096.4(NDRG1):c.699-6C>A
|
|
|
NM_006096.4(NDRG1):c.699-8T>G
|
rs2130692792
|
|
NM_006096.4(NDRG1):c.699-8del
|
|
|
NM_006096.4(NDRG1):c.6T>C (p.Ser2=)
|
|
|
NM_006096.4(NDRG1):c.702G>A (p.Arg234=)
|
rs547082017
|
|
NM_006096.4(NDRG1):c.705C>A (p.Arg235=)
|
rs528436514
|
|
NM_006096.4(NDRG1):c.714G>A (p.Glu238=)
|
|
|
NM_006096.4(NDRG1):c.723A>T (p.Arg241=)
|
|
|
NM_006096.4(NDRG1):c.726A>G (p.Pro242=)
|
|
|
NM_006096.4(NDRG1):c.738C>T (p.Thr246=)
|
rs2130692512
|
|
NM_006096.4(NDRG1):c.750C>G (p.Thr250=)
|
rs1855837777
|
|
NM_006096.4(NDRG1):c.753G>A (p.Leu251=)
|
|
|
NM_006096.4(NDRG1):c.753G>C (p.Leu251=)
|
|
|
NM_006096.4(NDRG1):c.755+12T>A
|
|
|
NM_006096.4(NDRG1):c.755+12T>C
|
|
|
NM_006096.4(NDRG1):c.755+15T>C
|
|
|
NM_006096.4(NDRG1):c.755+16C>T
|
|
|
NM_006096.4(NDRG1):c.755+18C>T
|
|
|
NM_006096.4(NDRG1):c.755+7G>T
|
|
|
NM_006096.4(NDRG1):c.756-11C>T
|
|
|
NM_006096.4(NDRG1):c.756-13T>C
|
rs1855783791
|
|
NM_006096.4(NDRG1):c.756-15dup
|
|
|
NM_006096.4(NDRG1):c.756-16C>T
|
|
|
NM_006096.4(NDRG1):c.756-19G>T
|
|
|
NM_006096.4(NDRG1):c.759C>T (p.Cys253=)
|
rs2130689408
|
|
NM_006096.4(NDRG1):c.75C>T (p.Gly25=)
|
|
|
NM_006096.4(NDRG1):c.783C>T (p.Asp261=)
|
rs2130689282
|
|
NM_006096.4(NDRG1):c.792T>G (p.Pro264=)
|
rs377529002
|
|
NM_006096.4(NDRG1):c.79C>T (p.Leu27=)
|
rs2130785611
|
|
NM_006096.4(NDRG1):c.804C>A (p.Ala268=)
|
rs754704497
|
|
NM_006096.4(NDRG1):c.807+12T>G
|
rs1435241843
|
|
NM_006096.4(NDRG1):c.807+13C>T
|
|
|
NM_006096.4(NDRG1):c.807+16A>G
|
|
|
NM_006096.4(NDRG1):c.807+18C>T
|
|
|
NM_006096.4(NDRG1):c.808-11C>T
|
|
|
NM_006096.4(NDRG1):c.808-13C>T
|
|
|
NM_006096.4(NDRG1):c.808-16C>T
|
|
|
NM_006096.4(NDRG1):c.808-7T>C
|
|
|
NM_006096.4(NDRG1):c.808-9C>T
|
|
|
NM_006096.4(NDRG1):c.826T>C (p.Leu276=)
|
rs2130685069
|
|
NM_006096.4(NDRG1):c.837A>G (p.Thr279=)
|
rs2130685014
|
|
NM_006096.4(NDRG1):c.840G>A (p.Lys280=)
|
|
|
NM_006096.4(NDRG1):c.849C>T (p.Leu283=)
|
rs1017838840
|
|
NM_006096.4(NDRG1):c.855+13C>T
|
|
|
NM_006096.4(NDRG1):c.855+14A>G
|
|
|
NM_006096.4(NDRG1):c.855+16T>A
|
|
|
NM_006096.4(NDRG1):c.855+16T>C
|
|
|
NM_006096.4(NDRG1):c.855+20G>T
|
|
|
NM_006096.4(NDRG1):c.856-11C>G
|
|
|
NM_006096.4(NDRG1):c.856-13C>G
|
|
|
NM_006096.4(NDRG1):c.856-19G>A
|
|
|
NM_006096.4(NDRG1):c.856-20C>G
|
|
|
NM_006096.4(NDRG1):c.856-20C>T
|
|
|
NM_006096.4(NDRG1):c.856-5C>T
|
rs767437478
|
|
NM_006096.4(NDRG1):c.856-7C>A
|
rs2130676501
|
|
NM_006096.4(NDRG1):c.856-7C>G
|
|
|
NM_006096.4(NDRG1):c.856-8T>A
|
rs2130676510
|
|
NM_006096.4(NDRG1):c.856-9C>G
|
rs772996128
|
|
NM_006096.4(NDRG1):c.856-9C>T
|
rs772996128
|
|
NM_006096.4(NDRG1):c.873C>G (p.Gly291=)
|
rs769421428
|
|
NM_006096.4(NDRG1):c.879G>T (p.Pro293=)
|
rs2233340
|
|
NM_006096.4(NDRG1):c.87G>A (p.Glu29=)
|
|
|
NM_006096.4(NDRG1):c.891+10A>G
|
rs1855548442
|
|
NM_006096.4(NDRG1):c.891+13T>G
|
|
|
NM_006096.4(NDRG1):c.892-11G>A
|
rs1855418193
|
|
NM_006096.4(NDRG1):c.892-15C>G
|
|
|
NM_006096.4(NDRG1):c.892-15C>T
|
|
|
NM_006096.4(NDRG1):c.892-17C>G
|
|
|
NM_006096.4(NDRG1):c.892-9C>T
|
rs987790520
|
|
NM_006096.4(NDRG1):c.894G>C (p.Pro298=)
|
|
|
NM_006096.4(NDRG1):c.906T>C (p.Ala302=)
|
|
|
NM_006096.4(NDRG1):c.906T>G (p.Ala302=)
|
rs572270834
|
|
NM_006096.4(NDRG1):c.927G>T (p.Val309=)
|
rs770527044
|
|
NM_006096.4(NDRG1):c.943+19G>A
|
rs113140810
|
|
NM_006096.4(NDRG1):c.943+19G>T
|
rs113140810
|
|
NM_006096.4(NDRG1):c.943+7dup
|
rs2130667511
|
|
NM_006096.4(NDRG1):c.944-17G>A
|
|
|
NM_006096.4(NDRG1):c.944-20G>T
|
rs2130656881
|
|
NM_006096.4(NDRG1):c.944-4C>G
|
|
|
NM_006096.4(NDRG1):c.944-6C>T
|
rs1588216759
|
|
NM_006096.4(NDRG1):c.944-7C>A
|
|
|
NM_006096.4(NDRG1):c.944-7C>T
|
|
|
NM_006096.4(NDRG1):c.948C>A (p.Pro316=)
|
rs1001191483
|
|
NM_006096.4(NDRG1):c.948C>T (p.Pro316=)
|
rs1001191483
|
|
NM_006096.4(NDRG1):c.951G>A (p.Ser317=)
|
rs1310471207
|
|
NM_006096.4(NDRG1):c.963C>A (p.Thr321=)
|
|
|
NM_006096.4(NDRG1):c.963C>G (p.Thr321=)
|
rs1399154074
|
|
NM_006096.4(NDRG1):c.969G>A (p.Leu323=)
|
|
|
NM_006096.4(NDRG1):c.96C>G (p.Val32=)
|
rs2130785583
|
|
NM_006096.4(NDRG1):c.973C>A (p.Arg325=)
|
rs141078746
|
|
NM_006096.4(NDRG1):c.973C>T (p.Arg325Trp)
|
rs141078746
|
|
NM_006096.4(NDRG1):c.987C>G (p.Ala329=)
|
rs778770054
|
|
NM_006096.4(NDRG1):c.99+10G>A
|
|
|
NM_006096.4(NDRG1):c.99+10G>T
|
rs1210845048
|
|
NM_006096.4(NDRG1):c.99+12A>T
|
|
|
NM_006096.4(NDRG1):c.99+14G>A
|
|
|
NM_006096.4(NDRG1):c.99+18C>A
|
|
|
NM_006096.4(NDRG1):c.990T>G (p.Ser330=)
|
rs2130656420
|
|
NM_014845.6(FIG4):c.1039+14T>C
|
|
|
NM_014845.6(FIG4):c.1039+7G>A
|
|
|
NM_014845.6(FIG4):c.1039+8G>A
|
rs2128386984
|
|
NM_014845.6(FIG4):c.1040-16C>G
|
|
|
NM_014845.6(FIG4):c.1040-17T>C
|
rs1476656802
|
|
NM_014845.6(FIG4):c.1040-18A>G
|
|
|
NM_014845.6(FIG4):c.1065T>C (p.His355=)
|
|
|
NM_014845.6(FIG4):c.1071T>C (p.Ala357=)
|
|
|
NM_014845.6(FIG4):c.1137+12T>G
|
|
|
NM_014845.6(FIG4):c.1137+8G>T
|
rs779200387
|
|
NM_014845.6(FIG4):c.1138-18G>A
|
|
|
NM_014845.6(FIG4):c.117G>A (p.Leu39=)
|
|
|
NM_014845.6(FIG4):c.1209A>G (p.Gln403=)
|
|
|
NM_014845.6(FIG4):c.1215G>A (p.Leu405=)
|
|
|
NM_014845.6(FIG4):c.1221T>C (p.Pro407=)
|
|
|
NM_014845.6(FIG4):c.1260G>A (p.Lys420=)
|
|
|
NM_014845.6(FIG4):c.1271+9T>C
|
rs1336280554
|
|
NM_014845.6(FIG4):c.1272-10C>G
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-10C>T
|
rs201293291
|
|
NM_014845.6(FIG4):c.1272-14C>T
|
|
|
NM_014845.6(FIG4):c.1272-20A>G
|
|
|
NM_014845.6(FIG4):c.1272-8C>T
|
rs1583697467
|
|
NM_014845.6(FIG4):c.1278G>A (p.Leu426=)
|
|
|
NM_014845.6(FIG4):c.1287T>A (p.Val429=)
|
|
|
NM_014845.6(FIG4):c.1290T>C (p.Leu430=)
|
|
|
NM_014845.6(FIG4):c.1297C>T (p.Leu433=)
|
|
|
NM_014845.6(FIG4):c.132A>G (p.Thr44=)
|
rs553864727
|
|
NM_014845.6(FIG4):c.1374G>A (p.Leu458=)
|
|
|
NM_014845.6(FIG4):c.1377G>T (p.Arg459=)
|
rs2128391467
|
|
NM_014845.6(FIG4):c.1380A>G (p.Pro460=)
|
|
|
NM_014845.6(FIG4):c.1388+10G>C
|
|
|
NM_014845.6(FIG4):c.1388+7A>G
|
|
|
NM_014845.6(FIG4):c.1389-15T>C
|
|
|
NM_014845.6(FIG4):c.1389-18G>A
|
|
|
NM_014845.6(FIG4):c.1389-19T>G
|
|
|
NM_014845.6(FIG4):c.138A>C (p.Pro46=)
|
|
|
NM_014845.6(FIG4):c.1410T>C (p.Cys470=)
|
|
|
NM_014845.6(FIG4):c.1428C>G (p.Arg476=)
|
|
|
NM_014845.6(FIG4):c.1434+18A>G
|
|
|
NM_014845.6(FIG4):c.1435-4T>G
|
|
|
NM_014845.6(FIG4):c.1435-6C>G
|
|
|
NM_014845.6(FIG4):c.1443C>T (p.Ile481=)
|
rs1583701662
|
|
NM_014845.6(FIG4):c.1521T>C (p.Tyr507=)
|
|
|
NM_014845.6(FIG4):c.1545T>A (p.Ile515=)
|
|
|
NM_014845.6(FIG4):c.1551A>G (p.Lys517=)
|
|
|
NM_014845.6(FIG4):c.1557T>C (p.Asn519=)
|
|
|
NM_014845.6(FIG4):c.1583+20A>C
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+20A>G
|
rs377162452
|
|
NM_014845.6(FIG4):c.1583+7C>T
|
|
|
NM_014845.6(FIG4):c.1584-10C>T
|
|
|
NM_014845.6(FIG4):c.1584-10del
|
|
|
NM_014845.6(FIG4):c.1584-14T>G
|
|
|
NM_014845.6(FIG4):c.1584-18G>A
|
|
|
NM_014845.6(FIG4):c.1585T>C (p.Leu529=)
|
|
|
NM_014845.6(FIG4):c.165+10C>T
|
|
|
NM_014845.6(FIG4):c.165+17C>T
|
rs1390100492
|
|
NM_014845.6(FIG4):c.165+8T>C
|
rs1775391813
|
|
NM_014845.6(FIG4):c.166-10T>C
|
|
|
NM_014845.6(FIG4):c.166-11C>G
|
rs200978101
|
|
NM_014845.6(FIG4):c.166-16A>T
|
|
|
NM_014845.6(FIG4):c.166-7T>C
|
rs2128381583
|
|
NM_014845.6(FIG4):c.1686A>G (p.Pro562=)
|
|
|
NM_014845.6(FIG4):c.1710C>T (p.Ile570=)
|
|
|
NM_014845.6(FIG4):c.1731T>C (p.Tyr577=)
|
|
|
NM_014845.6(FIG4):c.1734C>T (p.Tyr578=)
|
rs1224727049
|
|
NM_014845.6(FIG4):c.1740T>C (p.Asn580=)
|
rs1554304608
|
|
NM_014845.6(FIG4):c.1751-17T>C
|
|
|
NM_014845.6(FIG4):c.1758T>C (p.Asp586=)
|
|
|
NM_014845.6(FIG4):c.1764A>G (p.Gln588=)
|
|
|
NM_014845.6(FIG4):c.1779C>T (p.Leu593=)
|
|
|
NM_014845.6(FIG4):c.177T>G (p.Thr59=)
|
|
|
NM_014845.6(FIG4):c.1885A>C (p.Arg629=)
|
|
|
NM_014845.6(FIG4):c.1889+6_1889+11dup
|
rs762389374
|
|
NM_014845.6(FIG4):c.1890-16A>T
|
rs544899373
|
|
NM_014845.6(FIG4):c.1890-5T>A
|
|
|
NM_014845.6(FIG4):c.18C>G (p.Ala6=)
|
|
|
NM_014845.6(FIG4):c.1917G>A (p.Val639=)
|
|
|
NM_014845.6(FIG4):c.1948+10T>C
|
|
|
NM_014845.6(FIG4):c.1948+13_1948+16del
|
|
|
NM_014845.6(FIG4):c.1949-12T>C
|
rs2128396238
|
|
NM_014845.6(FIG4):c.1949-16G>T
|
|
|
NM_014845.6(FIG4):c.1949-18A>G
|
|
|
NM_014845.6(FIG4):c.1949-5C>T
|
|
|
NM_014845.6(FIG4):c.2067C>T (p.Thr689=)
|
|
|
NM_014845.6(FIG4):c.2073C>T (p.Cys691=)
|
|
|
NM_014845.6(FIG4):c.2079T>A (p.Ala693=)
|
|
|
NM_014845.6(FIG4):c.207C>T (p.Arg69=)
|
rs1583643073
|
|
NM_014845.6(FIG4):c.2096+10G>A
|
|
|
NM_014845.6(FIG4):c.2096+10G>T
|
rs1459717981
|
|
NM_014845.6(FIG4):c.2096+11T>C
|
|
|
NM_014845.6(FIG4):c.2096+7T>G
|
rs2128396287
|
|
NM_014845.6(FIG4):c.2096+8G>A
|
|
|
NM_014845.6(FIG4):c.2096+9T>C
|
rs2128396288
|
|
NM_014845.6(FIG4):c.2097-10C>G
|
rs142482745
|
|
NM_014845.6(FIG4):c.2097-10C>T
|
rs142482745
|
|
NM_014845.6(FIG4):c.2124T>C (p.Ile708=)
|
|
|
NM_014845.6(FIG4):c.2127T>C (p.Asp709=)
|
|
|
NM_014845.6(FIG4):c.2136A>G (p.Pro712=)
|
|
|
NM_014845.6(FIG4):c.2157T>C (p.Asp719=)
|
rs2128396853
|
|
NM_014845.6(FIG4):c.2176T>C (p.Leu726=)
|
|
|
NM_014845.6(FIG4):c.2181-18A>G
|
|
|
NM_014845.6(FIG4):c.2205T>C (p.Ala735=)
|
|
|
NM_014845.6(FIG4):c.2208A>G (p.Val736=)
|
|
|
NM_014845.6(FIG4):c.2209T>C (p.Leu737=)
|
|
|
NM_014845.6(FIG4):c.2223G>A (p.Thr741=)
|
|
|
NM_014845.6(FIG4):c.2223G>T (p.Thr741=)
|
rs181012139
|
|
NM_014845.6(FIG4):c.2241G>A (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2241G>C (p.Pro747=)
|
rs148589135
|
|
NM_014845.6(FIG4):c.2244C>G (p.Pro748=)
|
rs17854106
|
|
NM_014845.6(FIG4):c.2262G>C (p.Val754=)
|
rs2128397273
|
|
NM_014845.6(FIG4):c.2325C>T (p.Arg775=)
|
|
|
NM_014845.6(FIG4):c.2370G>T (p.Val790=)
|
|
|
NM_014845.6(FIG4):c.2376+13G>A
|
|
|
NM_014845.6(FIG4):c.2376+16G>T
|
rs746479599
|
|
NM_014845.6(FIG4):c.2377-12T>C
|
rs2128397495
|
|
NM_014845.6(FIG4):c.2377-13_2377-10del
|
|
|
NM_014845.6(FIG4):c.2377-19_2377-18insC
|
|
|
NM_014845.6(FIG4):c.2377-6C>A
|
|
|
NM_014845.6(FIG4):c.2377-7del
|
|
|
NM_014845.6(FIG4):c.2415C>T (p.Asn805=)
|
|
|
NM_014845.6(FIG4):c.2459+12T>C
|
|
|
NM_014845.6(FIG4):c.2459+7T>C
|
rs575271308
|
|
NM_014845.6(FIG4):c.2459+8A>G
|
|
|
NM_014845.6(FIG4):c.2460-14A>G
|
rs558299221
|
|
NM_014845.6(FIG4):c.2460-14A>T
|
rs558299221
|
|
NM_014845.6(FIG4):c.2466T>G (p.Val822=)
|
rs2128398444
|
|
NM_014845.6(FIG4):c.2523G>A (p.Arg841=)
|
rs1554309865
|
|
NM_014845.6(FIG4):c.2546+10A>G
|
|
|
NM_014845.6(FIG4):c.2546+16G>A
|
|
|
NM_014845.6(FIG4):c.2546+17A>C
|
rs1050332219
|
|
NM_014845.6(FIG4):c.2547-5T>G
|
rs200267243
|
|
NM_014845.6(FIG4):c.2568G>A (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2568G>T (p.Ser856=)
|
rs140055056
|
|
NM_014845.6(FIG4):c.2574T>C (p.Asp858=)
|
rs1583785957
|
|
NM_014845.6(FIG4):c.2643G>A (p.Gln881=)
|
|
|
NM_014845.6(FIG4):c.267G>A (p.Ala89=)
|
|
|
NM_014845.6(FIG4):c.2706C>T (p.Ile902=)
|
|
|
NM_014845.6(FIG4):c.285T>A (p.Val95=)
|
|
|
NM_014845.6(FIG4):c.289+13C>A
|
|
|
NM_014845.6(FIG4):c.289+13C>T
|
rs1334113726
|
|
NM_014845.6(FIG4):c.289+16C>T
|
|
|
NM_014845.6(FIG4):c.289+17C>A
|
rs368282150
|
|
NM_014845.6(FIG4):c.289+19T>G
|
|
|
NM_014845.6(FIG4):c.290-20C>T
|
|
|
NM_014845.6(FIG4):c.290-5C>T
|
|
|
NM_014845.6(FIG4):c.290-7del
|
rs2128384000
|
|
NM_014845.6(FIG4):c.363T>A (p.Gly121=)
|
|
|
NM_014845.6(FIG4):c.381C>T (p.Val127=)
|
|
|
NM_014845.6(FIG4):c.401A>C (p.Tyr134Ser)
|
rs571563767
|
|
NM_014845.6(FIG4):c.423G>A (p.Arg141=)
|
rs766129182
|
|
NM_014845.6(FIG4):c.446+16A>G
|
rs1330337335
|
|
NM_014845.6(FIG4):c.446+18T>C
|
|
|
NM_014845.6(FIG4):c.446+21dup
|
rs1321436747
|
|
NM_014845.6(FIG4):c.447-10_447-9insC
|
rs2128385199
|
|
NM_014845.6(FIG4):c.447-15T>G
|
|
|
NM_014845.6(FIG4):c.447-16_447-13del
|
rs753412030
|
|
NM_014845.6(FIG4):c.447-16_447-14del
|
|
|
NM_014845.6(FIG4):c.447-16_447-15insCT
|
|
|
NM_014845.6(FIG4):c.447-16del
|
|
|
NM_014845.6(FIG4):c.447-17dup
|
rs764540259
|
|
NM_014845.6(FIG4):c.447-18_447-17del
|
|
|
NM_014845.6(FIG4):c.447-18_447-17dup
|
|
|
NM_014845.6(FIG4):c.451C>T (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.453A>G (p.Leu151=)
|
|
|
NM_014845.6(FIG4):c.486T>C (p.Asn162=)
|
|
|
NM_014845.6(FIG4):c.497+10A>T
|
rs2128385219
|
|
NM_014845.6(FIG4):c.498-14A>G
|
|
|
NM_014845.6(FIG4):c.498-15C>A
|
rs2128385652
|
|
NM_014845.6(FIG4):c.516C>T (p.Ser172=)
|
rs759246119
|
|
NM_014845.6(FIG4):c.528A>G (p.Gln176=)
|
rs1562652753
|
|
NM_014845.6(FIG4):c.591C>T (p.Arg197=)
|
|
|
NM_014845.6(FIG4):c.618T>C (p.Asp206=)
|
rs1208786525
|
|
NM_014845.6(FIG4):c.640G>A (p.Gly214Arg)
|
rs529048339
|
|
NM_014845.6(FIG4):c.646+13G>A
|
|
|
NM_014845.6(FIG4):c.646+20C>G
|
|
|
NM_014845.6(FIG4):c.646+7G>T
|
rs2128385685
|
|
NM_014845.6(FIG4):c.647-20T>C
|
|
|
NM_014845.6(FIG4):c.66+11C>A
|
|
|
NM_014845.6(FIG4):c.66+14C>T
|
rs1319217856
|
|
NM_014845.6(FIG4):c.66+17G>C
|
|
|
NM_014845.6(FIG4):c.66+19C>G
|
|
|
NM_014845.6(FIG4):c.66+20G>C
|
|
|
NM_014845.6(FIG4):c.66+9C>G
|
|
|
NM_014845.6(FIG4):c.67-15C>T
|
|
|
NM_014845.6(FIG4):c.67-18A>G
|
|
|
NM_014845.6(FIG4):c.67-8A>G
|
|
|
NM_014845.6(FIG4):c.684T>C (p.Tyr228=)
|
rs1296081777
|
|
NM_014845.6(FIG4):c.69A>G (p.Arg23=)
|
rs1775386908
|
|
NM_014845.6(FIG4):c.705G>T (p.Leu235=)
|
rs1026195072
|
|
NM_014845.6(FIG4):c.741T>C (p.Leu247=)
|
|
|
NM_014845.6(FIG4):c.762C>T (p.Phe254=)
|
rs201013726
|
|
NM_014845.6(FIG4):c.775+10C>T
|
|
|
NM_014845.6(FIG4):c.793C>A (p.Arg265=)
|
rs774294963
|
|
NM_014845.6(FIG4):c.811C>T (p.Leu271=)
|
rs1360869637
|
|
NM_014845.6(FIG4):c.813A>G (p.Leu271=)
|
rs2128386644
|
|
NM_014845.6(FIG4):c.823A>C (p.Arg275=)
|
|
|
NM_014845.6(FIG4):c.843C>T (p.Gly281=)
|
rs1776323553
|
|
NM_014845.6(FIG4):c.852T>C (p.Phe284=)
|
rs2128386650
|
|
NM_014845.6(FIG4):c.870C>T (p.Asn290=)
|
rs1236653957
|
|
NM_014845.6(FIG4):c.876+7_876+13dup
|
|
|
NM_014845.6(FIG4):c.877-15C>T
|
|
|
NM_014845.6(FIG4):c.877-7T>C
|
|
|
NM_014845.6(FIG4):c.882T>C (p.Asp294=)
|
rs776821372
|
|
NM_016156.6(MTMR2):c.1005A>C (p.Gly335=)
|
|
|
NM_016156.6(MTMR2):c.1029T>C (p.Tyr343=)
|
|
|
NM_016156.6(MTMR2):c.1071T>C (p.His357=)
|
rs2135434145
|
|
NM_016156.6(MTMR2):c.1143T>G (p.Ser381=)
|
|
|
NM_016156.6(MTMR2):c.1170A>G (p.Glu390=)
|
rs199736240
|
|
NM_016156.6(MTMR2):c.1179+16T>C
|
|
|
NM_016156.6(MTMR2):c.1180-11C>G
|
|
|
NM_016156.6(MTMR2):c.1180-17A>T
|
|
|
NM_016156.6(MTMR2):c.1180-4C>T
|
|
|
NM_016156.6(MTMR2):c.1180-9G>A
|
rs1347066495
|
|
NM_016156.6(MTMR2):c.1236T>C (p.Ser412=)
|
|
|
NM_016156.6(MTMR2):c.1239G>A (p.Val413=)
|
|
|
NM_016156.6(MTMR2):c.1281C>T (p.Leu427=)
|
rs199542109
|
|
NM_016156.6(MTMR2):c.1299C>T (p.Leu433=)
|
|
|
NM_016156.6(MTMR2):c.1375C>A (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1377A>T (p.Arg459=)
|
|
|
NM_016156.6(MTMR2):c.1386+13C>T
|
|
|
NM_016156.6(MTMR2):c.1386+17G>A
|
|
|
NM_016156.6(MTMR2):c.1387-13_1387-12del
|
|
|
NM_016156.6(MTMR2):c.1387-8T>C
|
|
|
NM_016156.6(MTMR2):c.1389A>G (p.Arg463=)
|
rs2135417320
|
|
NM_016156.6(MTMR2):c.1410C>T (p.Asn470=)
|
|
|
NM_016156.6(MTMR2):c.141A>G (p.Ser47=)
|
|
|
NM_016156.6(MTMR2):c.1425C>T (p.Asp475=)
|
rs2135417226
|
|
NM_016156.6(MTMR2):c.1431G>C (p.Ser477=)
|
rs200285624
|
|
NM_016156.6(MTMR2):c.1434T>G (p.Pro478=)
|
rs2135417185
|
|
NM_016156.6(MTMR2):c.1458T>C (p.Cys486=)
|
|
|
NM_016156.6(MTMR2):c.1479+19_1479+23del
|
|
|
NM_016156.6(MTMR2):c.1480-18G>A
|
|
|
NM_016156.6(MTMR2):c.1480-4G>C
|
rs1590971136
|
|
NM_016156.6(MTMR2):c.1593+9T>G
|
rs1590970870
|
|
NM_016156.6(MTMR2):c.1594-4A>G
|
rs1863282999
|
|
NM_016156.6(MTMR2):c.1641G>A (p.Gln547=)
|
|
|
NM_016156.6(MTMR2):c.1674C>T (p.Ser558=)
|
rs1555056924
|
|
NM_016156.6(MTMR2):c.1695T>C (p.Tyr565=)
|
rs1555056916
|
|
NM_016156.6(MTMR2):c.1707C>T (p.Ser569=)
|
|
|
NM_016156.6(MTMR2):c.1734A>G (p.Gly578=)
|
|
|
NM_016156.6(MTMR2):c.1770+12A>G
|
rs1863265850
|
|
NM_016156.6(MTMR2):c.1770+15A>G
|
|
|
NM_016156.6(MTMR2):c.1770+18T>C
|
|
|
NM_016156.6(MTMR2):c.1770+20C>A
|
|
|
NM_016156.6(MTMR2):c.1770+7G>C
|
rs908222470
|
|
NM_016156.6(MTMR2):c.1770+9_1770+20del
|
rs958180213
|
|
NM_016156.6(MTMR2):c.1771-17_1771-16del
|
|
|
NM_016156.6(MTMR2):c.1776T>C (p.Pro592=)
|
|
|
NM_016156.6(MTMR2):c.1776T>G (p.Pro592=)
|
rs1590968097
|
|
NM_016156.6(MTMR2):c.177T>G (p.Pro59=)
|
|
|
NM_016156.6(MTMR2):c.1810C>A (p.Arg604=)
|
rs138746296
|
|
NM_016156.6(MTMR2):c.184_186del (p.Arg62del)
|
rs141498429
|
|
NM_016156.6(MTMR2):c.187-16G>A
|
|
|
NM_016156.6(MTMR2):c.187-16G>T
|
|
|
NM_016156.6(MTMR2):c.1882A>C (p.Arg628=)
|
|
|
NM_016156.6(MTMR2):c.1896T>G (p.Pro632=)
|
rs780764646
|
|
NM_016156.6(MTMR2):c.18C>T (p.Ser6=)
|
|
|
NM_016156.6(MTMR2):c.1917C>G (p.Val639=)
|
|
|
NM_016156.6(MTMR2):c.1923T>C (p.Thr641=)
|
|
|
NM_016156.6(MTMR2):c.263-14T>C
|
|
|
NM_016156.6(MTMR2):c.263-20_263-19del
|
|
|
NM_016156.6(MTMR2):c.263-9C>A
|
rs200746130
|
|
NM_016156.6(MTMR2):c.30T>C (p.Leu10=)
|
|
|
NM_016156.6(MTMR2):c.357+16G>C
|
|
|
NM_016156.6(MTMR2):c.358-14_358-12del
|
|
|
NM_016156.6(MTMR2):c.358-15T>C
|
|
|
NM_016156.6(MTMR2):c.358-8T>C
|
|
|
NM_016156.6(MTMR2):c.42G>A (p.Pro14=)
|
|
|
NM_016156.6(MTMR2):c.450A>T (p.Gly150=)
|
|
|
NM_016156.6(MTMR2):c.45G>A (p.Ala15=)
|
|
|
NM_016156.6(MTMR2):c.468+12_468+16del
|
|
|
NM_016156.6(MTMR2):c.468+17G>A
|
|
|
NM_016156.6(MTMR2):c.483A>G (p.Leu161=)
|
rs2135464887
|
|
NM_016156.6(MTMR2):c.48G>C (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.48G>T (p.Ala16=)
|
|
|
NM_016156.6(MTMR2):c.546T>C (p.Tyr182=)
|
|
|
NM_016156.6(MTMR2):c.56C>T (p.Pro19Leu)
|
rs574213477
|
|
NM_016156.6(MTMR2):c.571-12_571-11del
|
|
|
NM_016156.6(MTMR2):c.571-8_571-7insG
|
|
|
NM_016156.6(MTMR2):c.600A>G (p.Val200=)
|
|
|
NM_016156.6(MTMR2):c.60C>T (p.Pro20=)
|
|
|
NM_016156.6(MTMR2):c.630C>T (p.Asp210=)
|
|
|
NM_016156.6(MTMR2):c.651G>A (p.Arg217=)
|
|
|
NM_016156.6(MTMR2):c.654+11T>C
|
|
|
NM_016156.6(MTMR2):c.655-13A>C
|
|
|
NM_016156.6(MTMR2):c.655-4G>C
|
rs745547533
|
|
NM_016156.6(MTMR2):c.655-4G>T
|
rs745547533
|
|
NM_016156.6(MTMR2):c.655-7C>T
|
rs775390447
|
|
NM_016156.6(MTMR2):c.655-8A>C
|
|
|
NM_016156.6(MTMR2):c.80+14C>T
|
|
|
NM_016156.6(MTMR2):c.80+14_80+43del
|
|
|
NM_016156.6(MTMR2):c.80+17G>T
|
|
|
NM_016156.6(MTMR2):c.80+19G>T
|
|
|
NM_016156.6(MTMR2):c.80+8G>A
|
rs1867028752
|
|
NM_016156.6(MTMR2):c.804+16G>A
|
rs2135442209
|
|
NM_016156.6(MTMR2):c.804+7A>G
|
rs1159867051
|
|
NM_016156.6(MTMR2):c.804+8G>T
|
|
|
NM_016156.6(MTMR2):c.805-13T>A
|
|
|
NM_016156.6(MTMR2):c.805-15T>A
|
|
|
NM_016156.6(MTMR2):c.805-16T>A
|
|
|
NM_016156.6(MTMR2):c.805-19C>G
|
|
|
NM_016156.6(MTMR2):c.805-4T>G
|
|
|
NM_016156.6(MTMR2):c.805-6A>G
|
rs766235741
|
|
NM_016156.6(MTMR2):c.805-7C>G
|
|
|
NM_016156.6(MTMR2):c.81-12T>C
|
|
|
NM_016156.6(MTMR2):c.81-13T>C
|
|
|
NM_016156.6(MTMR2):c.81-16C>T
|
|
|
NM_016156.6(MTMR2):c.81-17A>G
|
|
|
NM_016156.6(MTMR2):c.810A>G (p.Leu270=)
|
|
|
NM_016156.6(MTMR2):c.840A>G (p.Thr280=)
|
|
|
NM_016156.6(MTMR2):c.843C>A (p.Ile281=)
|
rs1217314381
|
|
NM_016156.6(MTMR2):c.909T>G (p.Leu303=)
|
|
|
NM_016156.6(MTMR2):c.981T>G (p.Ala327=)
|
rs2135439193
|
|
NM_016156.6(MTMR2):c.993+20A>G
|
|
|
NM_016156.6(MTMR2):c.994-15T>C
|
|
|
NM_016156.6(MTMR2):c.999G>A (p.Lys333=)
|
|
|
NM_024577.4(SH3TC2):c.*12108_*12110del
|
rs35182601
|
|
NM_024577.4(SH3TC2):c.*16856CA[22]
|
rs71957589
|
|
NM_024577.4(SH3TC2):c.*21474AAAC[2]
|
rs146796490
|
|
NM_024577.4(SH3TC2):c.*22553dup
|
rs55932017
|
|
NM_024577.4(SH3TC2):c.*858_*861del
|
rs5872107
|
|
NM_024577.4(SH3TC2):c.*8622del
|
rs562125931
|
|
NM_024577.4(SH3TC2):c.1008G>A (p.Arg336=)
|
rs1754196149
|
|
NM_024577.4(SH3TC2):c.1053C>A (p.Ala351=)
|
|
|
NM_024577.4(SH3TC2):c.1053C>T (p.Ala351=)
|
rs754936070
|
|
NM_024577.4(SH3TC2):c.1077G>A (p.Glu359=)
|
|
|
NM_024577.4(SH3TC2):c.1131G>T (p.Arg377=)
|
|
|
NM_024577.4(SH3TC2):c.1136-10C>G
|
|
|
NM_024577.4(SH3TC2):c.1136-5C>T
|
|
|
NM_024577.4(SH3TC2):c.1136-6A>G
|
|
|
NM_024577.4(SH3TC2):c.1160C>T (p.Pro387Leu)
|
|
|
NM_024577.4(SH3TC2):c.1177+16G>T
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>A
|
|
|
NM_024577.4(SH3TC2):c.1178-14G>T
|
|
|
NM_024577.4(SH3TC2):c.1178-15T>C
|
|
|
NM_024577.4(SH3TC2):c.1178-18C>T
|
|
|
NM_024577.4(SH3TC2):c.1178-4A>G
|
rs2127397727
|
|
NM_024577.4(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu)
|
rs1554121791
|
|
NM_024577.4(SH3TC2):c.1245G>T (p.Gly415=)
|
|
|
NM_024577.4(SH3TC2):c.1275C>T (p.Ser425=)
|
|
|
NM_024577.4(SH3TC2):c.1299G>C (p.Ser433=)
|
rs140904010
|
|
NM_024577.4(SH3TC2):c.1305C>A (p.Thr435=)
|
|
|
NM_024577.4(SH3TC2):c.1341T>G (p.Leu447=)
|
|
|
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe)
|
rs863224780
|
|
NM_024577.4(SH3TC2):c.1422G>C (p.Leu474=)
|
rs1201058981
|
|
NM_024577.4(SH3TC2):c.1440T>A (p.Ala480=)
|
|
|
NM_024577.4(SH3TC2):c.1488T>C (p.Ser496=)
|
|
|
NM_024577.4(SH3TC2):c.151+16A>G
|
|
|
NM_024577.4(SH3TC2):c.151+19C>T
|
|
|
NM_024577.4(SH3TC2):c.1512G>A (p.Glu504=)
|
rs1580901194
|
|
NM_024577.4(SH3TC2):c.152-16C>T
|
|
|
NM_024577.4(SH3TC2):c.154C>T (p.Leu52=)
|
rs1243181790
|
|
NM_024577.4(SH3TC2):c.1596C>T (p.Phe532=)
|
|
|
NM_024577.4(SH3TC2):c.159A>G (p.Thr53=)
|
|
|
NM_024577.4(SH3TC2):c.1614C>T (p.Ser538=)
|
|
|
NM_024577.4(SH3TC2):c.1647G>A (p.Val549=)
|
|
|
NM_024577.4(SH3TC2):c.1692C>T (p.Asp564=)
|
|
|
NM_024577.4(SH3TC2):c.1698C>T (p.Ser566=)
|
|
|
NM_024577.4(SH3TC2):c.1719C>T (p.Ile573=)
|
|
|
NM_024577.4(SH3TC2):c.171T>C (p.Cys57=)
|
|
|
NM_024577.4(SH3TC2):c.1731C>T (p.Ala577=)
|
rs2127397492
|
|
NM_024577.4(SH3TC2):c.1749G>A (p.Arg583=)
|
|
|
NM_024577.4(SH3TC2):c.1782G>A (p.Lys594=)
|
rs2127397464
|
|
NM_024577.4(SH3TC2):c.1794G>C (p.Leu598=)
|
rs1554121710
|
|
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
|
rs200332172
|
|
NM_024577.4(SH3TC2):c.1797G>T (p.Leu599=)
|
|
|
NM_024577.4(SH3TC2):c.1800C>T (p.Ala600=)
|
|
|
NM_024577.4(SH3TC2):c.1803C>T (p.Cys601=)
|
|
|
NM_024577.4(SH3TC2):c.1806G>A (p.Leu602=)
|
|
|
NM_024577.4(SH3TC2):c.1827C>A (p.Ala609=)
|
rs373737817
|
|
NM_024577.4(SH3TC2):c.1845G>A (p.Val615=)
|
rs914238218
|
|
NM_024577.4(SH3TC2):c.1855G>A (p.Val619Met)
|
|
|
NM_024577.4(SH3TC2):c.1875G>A (p.Val625=)
|
|
|
NM_024577.4(SH3TC2):c.1896G>A (p.Glu632=)
|
|
|
NM_024577.4(SH3TC2):c.18C>T (p.Cys6=)
|
|
|
NM_024577.4(SH3TC2):c.1905C>T (p.Ala635=)
|
rs2127397406
|
|
NM_024577.4(SH3TC2):c.1929C>T (p.Leu643=)
|
|
|
NM_024577.4(SH3TC2):c.1943G>A (p.Arg648Gln)
|
rs149077357
|
|
NM_024577.4(SH3TC2):c.1944G>T (p.Arg648=)
|
|
|
NM_024577.4(SH3TC2):c.1983C>T (p.Leu661=)
|
|
|
NM_024577.4(SH3TC2):c.1992A>G (p.Gly664=)
|
rs1380437828
|
|
NM_024577.4(SH3TC2):c.1995C>T (p.His665=)
|
rs751912297
|
|
NM_024577.4(SH3TC2):c.1996C>T (p.Pro666Ser)
|
|
|
NM_024577.4(SH3TC2):c.2007T>C (p.Ser669=)
|
|
|
NM_024577.4(SH3TC2):c.2037G>A (p.Leu679=)
|
|
|
NM_024577.4(SH3TC2):c.2070G>A (p.Val690=)
|
|
|
NM_024577.4(SH3TC2):c.2109G>C (p.Gly703=)
|
rs758849704
|
|
NM_024577.4(SH3TC2):c.2124T>A (p.Ile708=)
|
rs2127397311
|
|
NM_024577.4(SH3TC2):c.2133C>G (p.Val711=)
|
rs986521742
|
|
NM_024577.4(SH3TC2):c.2136C>T (p.His712=)
|
rs190680171
|
|
NM_024577.4(SH3TC2):c.2145C>T (p.Leu715=)
|
rs1421062539
|
|
NM_024577.4(SH3TC2):c.2151C>T (p.Asn717=)
|
|
|
NM_024577.4(SH3TC2):c.2199T>A (p.Ser733=)
|
rs1220210982
|
|
NM_024577.4(SH3TC2):c.2226G>A (p.Gln742=)
|
rs1580900427
|
|
NM_024577.4(SH3TC2):c.2241T>C (p.Cys747=)
|
rs779264091
|
|
NM_024577.4(SH3TC2):c.2262C>T (p.Ser754=)
|
|
|
NM_024577.4(SH3TC2):c.229C>A (p.Arg77=)
|
rs185149793
|
|
NM_024577.4(SH3TC2):c.2331C>A (p.Ile777=)
|
|
|
NM_024577.4(SH3TC2):c.2368C>T (p.Leu790=)
|
rs2127397177
|
|
NM_024577.4(SH3TC2):c.2400C>A (p.Leu800=)
|
|
|
NM_024577.4(SH3TC2):c.243G>A (p.Leu81=)
|
|
|
NM_024577.4(SH3TC2):c.2464C>T (p.Leu822=)
|
rs752906301
|
|
NM_024577.4(SH3TC2):c.2514C>T (p.Ile838=)
|
|
|
NM_024577.4(SH3TC2):c.2538C>T (p.Leu846=)
|
|
|
NM_024577.4(SH3TC2):c.2544T>G (p.Gly848=)
|
|
|
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val)
|
rs567173388
|
|
NM_024577.4(SH3TC2):c.2560A>C (p.Arg854=)
|
|
|
NM_024577.4(SH3TC2):c.2580T>C (p.Leu860=)
|
|
|
NM_024577.4(SH3TC2):c.2586C>T (p.Ala862=)
|
|
|
NM_024577.4(SH3TC2):c.2598C>T (p.Ala866=)
|
|
|
NM_024577.4(SH3TC2):c.2634T>C (p.Ala878=)
|
|
|
NM_024577.4(SH3TC2):c.2664G>A (p.Lys888=)
|
|
|
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
|
rs148073022
|
|
NM_024577.4(SH3TC2):c.2760A>G (p.Val920=)
|
|
|
NM_024577.4(SH3TC2):c.2787T>C (p.Val929=)
|
|
|
NM_024577.4(SH3TC2):c.279+13G>C
|
|
|
NM_024577.4(SH3TC2):c.279+17C>T
|
rs991958791
|
|
NM_024577.4(SH3TC2):c.279+20G>C
|
|
|
NM_024577.4(SH3TC2):c.279+6_279+19dup
|
|
|
NM_024577.4(SH3TC2):c.2790G>C (p.Leu930=)
|
|
|
NM_024577.4(SH3TC2):c.280-16T>A
|
rs2127401469
|
|
NM_024577.4(SH3TC2):c.280-18A>G
|
rs1349104801
|
|
NM_024577.4(SH3TC2):c.2814T>C (p.His938=)
|
|
|
NM_024577.4(SH3TC2):c.2853A>G (p.Leu951=)
|
|
|
NM_024577.4(SH3TC2):c.2856G>A (p.Arg952=)
|
|
|
NM_024577.4(SH3TC2):c.2872+11C>T
|
|
|
NM_024577.4(SH3TC2):c.2872+14A>G
|
rs1374170282
|
|
NM_024577.4(SH3TC2):c.2873-10T>A
|
rs1754070727
|
|
NM_024577.4(SH3TC2):c.2904T>C (p.His968=)
|
rs2127396907
|
|
NM_024577.4(SH3TC2):c.2991G>A (p.Arg997=)
|
|
|
NM_024577.4(SH3TC2):c.3018C>T (p.Ser1006=)
|
|
|
NM_024577.4(SH3TC2):c.3054-13T>C
|
|
|
NM_024577.4(SH3TC2):c.3060C>T (p.Leu1020=)
|
|
|
NM_024577.4(SH3TC2):c.3093G>A (p.Leu1031=)
|
|
|
NM_024577.4(SH3TC2):c.3132T>C (p.Ala1044=)
|
|
|
NM_024577.4(SH3TC2):c.3147G>A (p.Gly1049=)
|
|
|
NM_024577.4(SH3TC2):c.3183G>A (p.Glu1061=)
|
rs1237080220
|
|
NM_024577.4(SH3TC2):c.3204+16A>T
|
|
|
NM_024577.4(SH3TC2):c.3204+7C>A
|
|
|
NM_024577.4(SH3TC2):c.3205-20G>A
|
|
|
NM_024577.4(SH3TC2):c.3234G>A (p.Glu1078=)
|
|
|
NM_024577.4(SH3TC2):c.323A>G (p.Gln108Arg)
|
|
|
NM_024577.4(SH3TC2):c.3291G>C (p.Gly1097=)
|
rs775530482
|
|
NM_024577.4(SH3TC2):c.3297C>T (p.Arg1099=)
|
|
|
NM_024577.4(SH3TC2):c.3318G>A (p.Glu1106=)
|
rs1412557262
|
|
NM_024577.4(SH3TC2):c.3327+16G>A
|
|
|
NM_024577.4(SH3TC2):c.3328-12T>A
|
|
|
NM_024577.4(SH3TC2):c.3328-7T>C
|
rs2127392520
|
|
NM_024577.4(SH3TC2):c.3328-9T>C
|
rs1753738303
|
|
NM_024577.4(SH3TC2):c.3372T>C (p.Thr1124=)
|
|
|
NM_024577.4(SH3TC2):c.3384T>A (p.Ile1128=)
|
|
|
NM_024577.4(SH3TC2):c.3432G>A (p.Lys1144=)
|
rs1580888944
|
|
NM_024577.4(SH3TC2):c.3433G>C (p.Ala1145Pro)
|
rs141715248
|
|
NM_024577.4(SH3TC2):c.3438G>A (p.Leu1146=)
|
rs2127392467
|
|
NM_024577.4(SH3TC2):c.3478+14A>C
|
|
|
NM_024577.4(SH3TC2):c.3479-8A>C
|
|
|
NM_024577.4(SH3TC2):c.3504C>A (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3504C>T (p.Ala1168=)
|
rs757201330
|
|
NM_024577.4(SH3TC2):c.3534C>A (p.Ser1178=)
|
rs2127391999
|
|
NM_024577.4(SH3TC2):c.3535C>T (p.Leu1179=)
|
rs1031965152
|
|
NM_024577.4(SH3TC2):c.3603G>A (p.Gln1201=)
|
|
|
NM_024577.4(SH3TC2):c.3621G>A (p.Leu1207=)
|
rs770300877
|
|
NM_024577.4(SH3TC2):c.3651C>A (p.Gly1217=)
|
rs1753699032
|
|
NM_024577.4(SH3TC2):c.3675+17C>G
|
|
|
NM_024577.4(SH3TC2):c.3676-11C>A
|
|
|
NM_024577.4(SH3TC2):c.3676-13A>G
|
rs1753660598
|
|
NM_024577.4(SH3TC2):c.3676-18C>T
|
|
|
NM_024577.4(SH3TC2):c.369C>T (p.Ser123=)
|
|
|
NM_024577.4(SH3TC2):c.3720A>T (p.Ala1240=)
|
|
|
NM_024577.4(SH3TC2):c.3729G>A (p.Leu1243=)
|
rs1335682517
|
|
NM_024577.4(SH3TC2):c.3762G>A (p.Arg1254=)
|
rs374376222
|
|
NM_024577.4(SH3TC2):c.3768G>A (p.Arg1256=)
|
|
|
NM_024577.4(SH3TC2):c.3771G>A (p.Leu1257=)
|
rs1472880531
|
|
NM_024577.4(SH3TC2):c.3795G>A (p.Leu1265=)
|
|
|
NM_024577.4(SH3TC2):c.3807G>A (p.Arg1269=)
|
|
|
NM_024577.4(SH3TC2):c.3810C>T (p.Pro1270=)
|
rs2127391368
|
|
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=)
|
rs1038817068
|
|
NM_024577.4(SH3TC2):c.3846T>C (p.Ser1282=)
|
|
|
NM_024577.4(SH3TC2):c.385+16A>G
|
|
|
NM_024577.4(SH3TC2):c.385+9C>T
|
rs1561770736
|
|
NM_024577.4(SH3TC2):c.386-10G>A
|
rs1580910938
|
|
NM_024577.4(SH3TC2):c.386-12T>C
|
rs370151955
|
|
NM_024577.4(SH3TC2):c.386-18G>A
|
|
|
NM_024577.4(SH3TC2):c.386-18G>T
|
|
|
NM_024577.4(SH3TC2):c.391G>A (p.Val131Ile)
|
|
|
NM_024577.4(SH3TC2):c.414C>T (p.Leu138=)
|
rs2127400982
|
|
NM_024577.4(SH3TC2):c.42C>T (p.Thr14=)
|
rs2127406106
|
|
NM_024577.4(SH3TC2):c.438C>A (p.Leu146=)
|
rs976553031
|
|
NM_024577.4(SH3TC2):c.483T>C (p.Asp161=)
|
rs768029461
|
|
NM_024577.4(SH3TC2):c.48C>T (p.Gly16=)
|
rs1580924418
|
|
NM_024577.4(SH3TC2):c.493C>T (p.Leu165=)
|
|
|
NM_024577.4(SH3TC2):c.507C>T (p.Tyr169=)
|
rs1754392291
|
|
NM_024577.4(SH3TC2):c.515T>C (p.Leu172Pro)
|
|
|
NM_024577.4(SH3TC2):c.52+11dup
|
rs2127406089
|
|
NM_024577.4(SH3TC2):c.525G>A (p.Gln175=)
|
rs2127400937
|
|
NM_024577.4(SH3TC2):c.529+14del
|
|
|
NM_024577.4(SH3TC2):c.53-4C>T
|
|
|
NM_024577.4(SH3TC2):c.53-5T>C
|
rs1186354032
|
|
NM_024577.4(SH3TC2):c.550C>T (p.Leu184=)
|
rs1210183194
|
|
NM_024577.4(SH3TC2):c.558C>A (p.Ser186=)
|
rs141289653
|
|
NM_024577.4(SH3TC2):c.561G>A (p.Val187=)
|
rs2127400689
|
|
NM_024577.4(SH3TC2):c.573C>A (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.573C>T (p.Ala191=)
|
|
|
NM_024577.4(SH3TC2):c.603C>T (p.Cys201=)
|
rs760150466
|
|
NM_024577.4(SH3TC2):c.657C>G (p.Gly219=)
|
|
|
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
|
rs1025939209
|
|
NM_024577.4(SH3TC2):c.696G>C (p.Val232=)
|
|
|
NM_024577.4(SH3TC2):c.720C>A (p.Leu240=)
|
|
|
NM_024577.4(SH3TC2):c.731+14T>C
|
|
|
NM_024577.4(SH3TC2):c.732-19C>A
|
|
|
NM_024577.4(SH3TC2):c.732-20C>A
|
|
|
NM_024577.4(SH3TC2):c.732-6T>C
|
rs1554122676
|
|
NM_024577.4(SH3TC2):c.753A>T (p.Pro251=)
|
rs2127400486
|
|
NM_024577.4(SH3TC2):c.805+18A>T
|
|
|
NM_024577.4(SH3TC2):c.806-12T>C
|
|
|
NM_024577.4(SH3TC2):c.819T>C (p.Cys273=)
|
rs2127400023
|
|
NM_024577.4(SH3TC2):c.822G>A (p.Lys274=)
|
|
|
NM_024577.4(SH3TC2):c.849A>G (p.Glu283=)
|
rs2127400009
|
|
NM_024577.4(SH3TC2):c.912G>A (p.Gly304=)
|
rs757204346
|
|
NM_024577.4(SH3TC2):c.912G>C (p.Gly304=)
|
|
|
NM_024577.4(SH3TC2):c.96T>C (p.Cys32=)
|
|
|
NM_030962.4(SBF2):c.1002A>C (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1002A>G (p.Ala334=)
|
|
|
NM_030962.4(SBF2):c.1017T>C (p.Pro339=)
|
|
|
NM_030962.4(SBF2):c.1053+11del
|
rs1238757806
|
|
NM_030962.4(SBF2):c.1054-13C>T
|
|
|
NM_030962.4(SBF2):c.1065G>A (p.Val355=)
|
rs2134472414
|
|
NM_030962.4(SBF2):c.1107A>G (p.Gly369=)
|
|
|
NM_030962.4(SBF2):c.1167+7T>C
|
|
|
NM_030962.4(SBF2):c.1197C>T (p.Val399=)
|
|
|
NM_030962.4(SBF2):c.1273A>C (p.Arg425=)
|
rs1554976504
|
|
NM_030962.4(SBF2):c.1297-10T>C
|
rs1249564766
|
|
NM_030962.4(SBF2):c.1297-6T>C
|
rs1554975593
|
|
NM_030962.4(SBF2):c.1338T>C (p.Asn446=)
|
|
|
NM_030962.4(SBF2):c.1395+8_1395+11del
|
rs763174480
|
|
NM_030962.4(SBF2):c.1396-8T>C
|
|
|
NM_030962.4(SBF2):c.1396-9A>G
|
rs548520529
|
|
NM_030962.4(SBF2):c.141+11G>T
|
rs774519680
|
|
NM_030962.4(SBF2):c.142-10T>C
|
|
|
NM_030962.4(SBF2):c.142-6A>G
|
rs1241730559
|
|
NM_030962.4(SBF2):c.1434A>G (p.Pro478=)
|
rs946519735
|
|
NM_030962.4(SBF2):c.1440A>G (p.Pro480=)
|
|
|
NM_030962.4(SBF2):c.1443A>G (p.Thr481=)
|
|
|
NM_030962.4(SBF2):c.1449A>C (p.Gly483=)
|
|
|
NM_030962.4(SBF2):c.1459C>A (p.Arg487=)
|
rs120074139
|
|
NM_030962.4(SBF2):c.1491T>C (p.Asn497=)
|
rs767806871
|
|
NM_030962.4(SBF2):c.1498C>A (p.Arg500=)
|
|
|
NM_030962.4(SBF2):c.1515A>T (p.Ile505=)
|
|
|
NM_030962.4(SBF2):c.1527T>A (p.Val509=)
|
|
|
NM_030962.4(SBF2):c.1536C>T (p.Asn512=)
|
|
|
NM_030962.4(SBF2):c.156C>A (p.Gly52=)
|
|
|
NM_030962.4(SBF2):c.156C>T (p.Gly52=)
|
rs779676883
|
|
NM_030962.4(SBF2):c.1578T>G (p.Val526=)
|
|
|
NM_030962.4(SBF2):c.1600+17_1600+20del
|
|
|
NM_030962.4(SBF2):c.1601-13A>G
|
|
|
NM_030962.4(SBF2):c.1601-8T>G
|
|
|
NM_030962.4(SBF2):c.1601-8_1601-6del
|
rs2134369709
|
|
NM_030962.4(SBF2):c.1626A>G (p.Thr542=)
|
|
|
NM_030962.4(SBF2):c.1710+15_1710+28del
|
rs2134369196
|
|
NM_030962.4(SBF2):c.1711-15C>G
|
|
|
NM_030962.4(SBF2):c.1711-8G>T
|
rs1590619062
|
|
NM_030962.4(SBF2):c.1722T>A (p.Ala574=)
|
|
|
NM_030962.4(SBF2):c.1818A>G (p.Gln606=)
|
|
|
NM_030962.4(SBF2):c.1860+10A>G
|
rs778305149
|
|
NM_030962.4(SBF2):c.1860+15T>C
|
|
|
NM_030962.4(SBF2):c.1861-9T>C
|
rs2134134508
|
|
NM_030962.4(SBF2):c.1893C>G (p.Ala631=)
|
rs760154688
|
|
NM_030962.4(SBF2):c.1929+13G>C
|
|
|
NM_030962.4(SBF2):c.1930-10G>T
|
rs765561519
|
|
NM_030962.4(SBF2):c.1930-6T>G
|
|
|
NM_030962.4(SBF2):c.1930-9T>C
|
|
|
NM_030962.4(SBF2):c.1930-9T>G
|
rs1857476118
|
|
NM_030962.4(SBF2):c.2010G>A (p.Glu670=)
|
|
|
NM_030962.4(SBF2):c.2016C>G (p.Thr672=)
|
|
|
NM_030962.4(SBF2):c.2031G>A (p.Val677=)
|
|
|
NM_030962.4(SBF2):c.2058C>G (p.Leu686=)
|
|
|
NM_030962.4(SBF2):c.2058C>T (p.Leu686=)
|
rs895655461
|
|
NM_030962.4(SBF2):c.2079T>C (p.His693=)
|
|
|
NM_030962.4(SBF2):c.2100+17_2100+19dup
|
rs751432798
|
|
NM_030962.4(SBF2):c.2101-14G>T
|
|
|
NM_030962.4(SBF2):c.2112T>A (p.Pro704=)
|
rs1857340727
|
|
NM_030962.4(SBF2):c.2161C>T (p.Leu721=)
|
rs2134001499
|
|
NM_030962.4(SBF2):c.2178C>A (p.Thr726=)
|
rs1590234812
|
|
NM_030962.4(SBF2):c.2205A>G (p.Leu735=)
|
|
|
NM_030962.4(SBF2):c.2220A>G (p.Glu740=)
|
|
|
NM_030962.4(SBF2):c.2244T>C (p.Ile748=)
|
|
|
NM_030962.4(SBF2):c.2289A>G (p.Thr763=)
|
|
|
NM_030962.4(SBF2):c.2325T>C (p.Gly775=)
|
|
|
NM_030962.4(SBF2):c.2325T>G (p.Gly775=)
|
rs2134000781
|
|
NM_030962.4(SBF2):c.2358A>C (p.Thr786=)
|
|
|
NM_030962.4(SBF2):c.2363+11G>A
|
rs2134000617
|
|
NM_030962.4(SBF2):c.2363+20C>A
|
|
|
NM_030962.4(SBF2):c.2364-7G>T
|
|
|
NM_030962.4(SBF2):c.2445T>C (p.Val815=)
|
|
|
NM_030962.4(SBF2):c.2448G>A (p.Val816=)
|
|
|
NM_030962.4(SBF2):c.246C>T (p.Cys82=)
|
|
|
NM_030962.4(SBF2):c.2472C>T (p.Asp824=)
|
|
|
NM_030962.4(SBF2):c.2499T>G (p.Thr833=)
|
rs1236236536
|
|
NM_030962.4(SBF2):c.2536+14A>G
|
|
|
NM_030962.4(SBF2):c.2536+18A>C
|
|
|
NM_030962.4(SBF2):c.2537-4del
|
rs1252682513
|
|
NM_030962.4(SBF2):c.2574A>G (p.Val858=)
|
|
|
NM_030962.4(SBF2):c.2578C>A (p.Arg860=)
|
rs764814296
|
|
NM_030962.4(SBF2):c.2601T>C (p.Pro867=)
|
|
|
NM_030962.4(SBF2):c.2610+10G>A
|
|
|
NM_030962.4(SBF2):c.2610+12C>T
|
|
|
NM_030962.4(SBF2):c.2610+16A>G
|
|
|
NM_030962.4(SBF2):c.2610+19C>T
|
|
|
NM_030962.4(SBF2):c.2611-16C>A
|
|
|
NM_030962.4(SBF2):c.2611-18A>C
|
|
|
NM_030962.4(SBF2):c.2611-18A>T
|
|
|
NM_030962.4(SBF2):c.2611-35AATC[3]
|
|
|
NM_030962.4(SBF2):c.2611-35AATC[4]
|
rs202029370
|
|
NM_030962.4(SBF2):c.2611-5G>A
|
|
|
NM_030962.4(SBF2):c.2611-5G>T
|
rs1590218785
|
|
NM_030962.4(SBF2):c.2611-9T>C
|
|
|
NM_030962.4(SBF2):c.2685T>C (p.Pro895=)
|
rs1409235455
|
|
NM_030962.4(SBF2):c.2709A>C (p.Gly903=)
|
rs140152705
|
|
NM_030962.4(SBF2):c.2742A>G (p.Ala914=)
|
rs2133981778
|
|
NM_030962.4(SBF2):c.279+15A>G
|
|
|
NM_030962.4(SBF2):c.279+17T>C
|
|
|
NM_030962.4(SBF2):c.280-17A>C
|
rs777674707
|
|
NM_030962.4(SBF2):c.280-17A>G
|
|
|
NM_030962.4(SBF2):c.2806+18A>G
|
|
|
NM_030962.4(SBF2):c.2806+8T>G
|
|
|
NM_030962.4(SBF2):c.2807-11T>G
|
|
|
NM_030962.4(SBF2):c.2838C>T (p.Pro946=)
|
|
|
NM_030962.4(SBF2):c.2844C>G (p.Ala948=)
|
rs762600096
|
|
NM_030962.4(SBF2):c.2844C>T (p.Ala948=)
|
rs762600096
|
|
NM_030962.4(SBF2):c.2886A>C (p.Leu962=)
|
|
|
NM_030962.4(SBF2):c.2904A>G (p.Glu968=)
|
|
|
NM_030962.4(SBF2):c.2907A>G (p.Gly969=)
|
rs1057523299
|
|
NM_030962.4(SBF2):c.2908C>T (p.Leu970=)
|
rs1370817659
|
|
NM_030962.4(SBF2):c.2934+15A>G
|
rs1461263560
|
|
NM_030962.4(SBF2):c.2934+16G>A
|
|
|
NM_030962.4(SBF2):c.2934+17C>G
|
|
|
NM_030962.4(SBF2):c.2934+18del
|
rs751526911
|
|
NM_030962.4(SBF2):c.2935-12T>C
|
|
|
NM_030962.4(SBF2):c.2935-15C>T
|
|
|
NM_030962.4(SBF2):c.3000G>A (p.Leu1000=)
|
rs1564908294
|
|
NM_030962.4(SBF2):c.3015T>C (p.Tyr1005=)
|
rs1554922354
|
|
NM_030962.4(SBF2):c.3021G>A (p.Gln1007=)
|
|
|
NM_030962.4(SBF2):c.3030C>T (p.Phe1010=)
|
rs2133969868
|
|
NM_030962.4(SBF2):c.3033T>C (p.Ser1011=)
|
|
|
NM_030962.4(SBF2):c.3057A>G (p.Gln1019=)
|
|
|
NM_030962.4(SBF2):c.3093A>G (p.Glu1031=)
|
|
|
NM_030962.4(SBF2):c.3099C>T (p.Asn1033=)
|
rs139437755
|
|
NM_030962.4(SBF2):c.3110+10_3110+13del
|
|
|
NM_030962.4(SBF2):c.3110+14C>A
|
|
|
NM_030962.4(SBF2):c.3111-11A>C
|
|
|
NM_030962.4(SBF2):c.3111-7C>T
|
|
|
NM_030962.4(SBF2):c.3135A>G (p.Lys1045=)
|
rs1554920965
|
|
NM_030962.4(SBF2):c.3153G>A (p.Gly1051=)
|
|
|
NM_030962.4(SBF2):c.3231A>G (p.Gly1077=)
|
rs199985349
|
|
NM_030962.4(SBF2):c.3256+12C>T
|
|
|
NM_030962.4(SBF2):c.3256+8A>C
|
rs1856241835
|
|
NM_030962.4(SBF2):c.3257-10A>G
|
rs1348371983
|
|
NM_030962.4(SBF2):c.3257-16_3257-15del
|
|
|
NM_030962.4(SBF2):c.3257-18C>G
|
|
|
NM_030962.4(SBF2):c.3257-9C>T
|
|
|
NM_030962.4(SBF2):c.3261A>C (p.Ser1087=)
|
|
|
NM_030962.4(SBF2):c.3279C>T (p.Pro1093=)
|
|
|
NM_030962.4(SBF2):c.3288C>T (p.Thr1096=)
|
rs2942403
|
|
NM_030962.4(SBF2):c.3292C>T (p.Leu1098=)
|
rs117957652
|
|
NM_030962.4(SBF2):c.3357G>A (p.Gln1119=)
|
|
|
NM_030962.4(SBF2):c.3450C>T (p.Cys1150=)
|
rs377608130
|
|
NM_030962.4(SBF2):c.3455+20C>T
|
rs760955204
|
|
NM_030962.4(SBF2):c.3456-12A>G
|
|
|
NM_030962.4(SBF2):c.3456-12_3456-11del
|
|
|
NM_030962.4(SBF2):c.3456-18T>C
|
|
|
NM_030962.4(SBF2):c.3456-19C>T
|
|
|
NM_030962.4(SBF2):c.3483A>G (p.Gln1161=)
|
|
|
NM_030962.4(SBF2):c.3501T>C (p.Ser1167=)
|
|
|
NM_030962.4(SBF2):c.3507A>G (p.Pro1169=)
|
|
|
NM_030962.4(SBF2):c.3522C>T (p.Cys1174=)
|
|
|
NM_030962.4(SBF2):c.3540G>A (p.Leu1180=)
|
|
|
NM_030962.4(SBF2):c.3576T>G (p.Thr1192=)
|
rs779580044
|
|
NM_030962.4(SBF2):c.3579G>C (p.Leu1193=)
|
rs2133937125
|
|
NM_030962.4(SBF2):c.3609G>A (p.Lys1203=)
|
|
|
NM_030962.4(SBF2):c.3618T>C (p.Val1206=)
|
rs1855446145
|
|
NM_030962.4(SBF2):c.3642C>T (p.Ser1214=)
|
rs2133937017
|
|
NM_030962.4(SBF2):c.3652+13C>G
|
|
|
NM_030962.4(SBF2):c.3653-15A>G
|
|
|
NM_030962.4(SBF2):c.3653-19A>C
|
rs1855259655
|
|
NM_030962.4(SBF2):c.3720T>C (p.Asn1240=)
|
|
|
NM_030962.4(SBF2):c.3759T>G (p.Thr1253=)
|
|
|
NM_030962.4(SBF2):c.3777C>A (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3777C>G (p.Ala1259=)
|
|
|
NM_030962.4(SBF2):c.3784C>T (p.Leu1262=)
|
rs1270676073
|
|
NM_030962.4(SBF2):c.3793+10G>A
|
|
|
NM_030962.4(SBF2):c.3793+14A>G
|
rs2133931561
|
|
NM_030962.4(SBF2):c.3793+14_3793+16del
|
rs773684325
|
|
NM_030962.4(SBF2):c.3793+17C>A
|
rs755950037
|
|
NM_030962.4(SBF2):c.3793+17C>T
|
|
|
NM_030962.4(SBF2):c.3794-11C>T
|
|
|
NM_030962.4(SBF2):c.379T>C (p.Leu127=)
|
|
|
NM_030962.4(SBF2):c.3804A>C (p.Ala1268=)
|
|
|
NM_030962.4(SBF2):c.3837T>G (p.Ser1279=)
|
rs1554909254
|
|
NM_030962.4(SBF2):c.3840A>G (p.Pro1280=)
|
|
|
NM_030962.4(SBF2):c.387T>C (p.Tyr129=)
|
rs1590797444
|
|
NM_030962.4(SBF2):c.3888G>A (p.Ser1296=)
|
rs375669985
|
|
NM_030962.4(SBF2):c.3945C>G (p.Ala1315=)
|
|
|
NM_030962.4(SBF2):c.3969G>T (p.Ser1323=)
|
rs77833016
|
|
NM_030962.4(SBF2):c.3975A>G (p.Leu1325=)
|
|
|
NM_030962.4(SBF2):c.3979-4G>A
|
rs375742620
|
|
NM_030962.4(SBF2):c.3979-5C>T
|
|
|
NM_030962.4(SBF2):c.3979-9C>T
|
|
|
NM_030962.4(SBF2):c.402+12_402+13insAAAAAATG
|
|
|
NM_030962.4(SBF2):c.402+14A>G
|
|
|
NM_030962.4(SBF2):c.402+15G>C
|
|
|
NM_030962.4(SBF2):c.402+16T>C
|
|
|
NM_030962.4(SBF2):c.403-11T>C
|
|
|
NM_030962.4(SBF2):c.403-12A>T
|
|
|
NM_030962.4(SBF2):c.403-13T>C
|
|
|
NM_030962.4(SBF2):c.403-4G>C
|
|
|
NM_030962.4(SBF2):c.405T>C (p.Ala135=)
|
|
|
NM_030962.4(SBF2):c.4074G>A (p.Arg1358=)
|
|
|
NM_030962.4(SBF2):c.411G>T (p.Leu137=)
|
rs1949191944
|
|
NM_030962.4(SBF2):c.4137T>C (p.Asp1379=)
|
|
|
NM_030962.4(SBF2):c.4155+16G>C
|
|
|
NM_030962.4(SBF2):c.4155+7T>C
|
|
|
NM_030962.4(SBF2):c.4156-4T>C
|
|
|
NM_030962.4(SBF2):c.4156-7C>G
|
rs2133898233
|
|
NM_030962.4(SBF2):c.4156-9G>A
|
rs2133898236
|
|
NM_030962.4(SBF2):c.4161C>T (p.His1387=)
|
|
|
NM_030962.4(SBF2):c.4162A>C (p.Arg1388=)
|
rs1854010179
|
|
NM_030962.4(SBF2):c.417G>A (p.Leu139=)
|
|
|
NM_030962.4(SBF2):c.4209T>C (p.Gly1403=)
|
|
|
NM_030962.4(SBF2):c.420C>A (p.Ile140=)
|
|
|
NM_030962.4(SBF2):c.4257+14C>T
|
rs771419758
|
|
NM_030962.4(SBF2):c.4257+17del
|
|
|
NM_030962.4(SBF2):c.4257+20T>C
|
|
|
NM_030962.4(SBF2):c.4258-18A>T
|
|
|
NM_030962.4(SBF2):c.4258-20C>G
|
rs1324228041
|
|
NM_030962.4(SBF2):c.4260G>T (p.Val1420=)
|
|
|
NM_030962.4(SBF2):c.426C>T (p.Thr142=)
|
|
|
NM_030962.4(SBF2):c.4347T>C (p.Phe1449=)
|
|
|
NM_030962.4(SBF2):c.4368G>A (p.Arg1456=)
|
|
|
NM_030962.4(SBF2):c.4395G>A (p.Gly1465=)
|
|
|
NM_030962.4(SBF2):c.4443+13A>T
|
|
|
NM_030962.4(SBF2):c.4443+14G>T
|
|
|
NM_030962.4(SBF2):c.4443+18G>C
|
|
|
NM_030962.4(SBF2):c.4443+19A>T
|
|
|
NM_030962.4(SBF2):c.4491A>G (p.Leu1497=)
|
|
|
NM_030962.4(SBF2):c.4539C>T (p.Leu1513=)
|
rs756073763
|
|
NM_030962.4(SBF2):c.4570+13A>T
|
rs945495130
|
|
NM_030962.4(SBF2):c.4570+14T>C
|
|
|
NM_030962.4(SBF2):c.4570+19T>C
|
|
|
NM_030962.4(SBF2):c.4570+20T>C
|
|
|
NM_030962.4(SBF2):c.4571-10T>A
|
|
|
NM_030962.4(SBF2):c.4571-18G>T
|
|
|
NM_030962.4(SBF2):c.4611A>G (p.Lys1537=)
|
rs930093275
|
|
NM_030962.4(SBF2):c.463C>T (p.Leu155=)
|
|
|
NM_030962.4(SBF2):c.4698+10G>A
|
rs768677228
|
|
NM_030962.4(SBF2):c.4699-14G>C
|
rs945573981
|
|
NM_030962.4(SBF2):c.4699-16C>G
|
|
|
NM_030962.4(SBF2):c.4701T>G (p.Ala1567=)
|
rs750656969
|
|
NM_030962.4(SBF2):c.4702C>T (p.Leu1568=)
|
|
|
NM_030962.4(SBF2):c.4704A>G (p.Leu1568=)
|
rs1590087815
|
|
NM_030962.4(SBF2):c.4710C>G (p.Pro1570=)
|
|
|
NM_030962.4(SBF2):c.4713T>C (p.Asn1571=)
|
|
|
NM_030962.4(SBF2):c.4716A>G (p.Val1572=)
|
rs1205440223
|
|
NM_030962.4(SBF2):c.4737G>A (p.Lys1579=)
|
rs2133858788
|
|
NM_030962.4(SBF2):c.4803C>A (p.Pro1601=)
|
|
|
NM_030962.4(SBF2):c.4881C>T (p.Cys1627=)
|
rs2133858474
|
|
NM_030962.4(SBF2):c.4926T>C (p.Leu1642=)
|
|
|
NM_030962.4(SBF2):c.4932+12G>A
|
|
|
NM_030962.4(SBF2):c.4933-13_4933-9del
|
rs767990042
|
|
NM_030962.4(SBF2):c.4933-20A>G
|
|
|
NM_030962.4(SBF2):c.4968C>T (p.Ala1656=)
|
|
|
NM_030962.4(SBF2):c.4983G>A (p.Gln1661=)
|
|
|
NM_030962.4(SBF2):c.498G>A (p.Ala166=)
|
|
|
NM_030962.4(SBF2):c.5004C>G (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5004C>T (p.Thr1668=)
|
rs150598413
|
|
NM_030962.4(SBF2):c.5022A>G (p.Glu1674=)
|
|
|
NM_030962.4(SBF2):c.5034T>C (p.Asp1678=)
|
rs771306445
|
|
NM_030962.4(SBF2):c.5037+11A>C
|
|
|
NM_030962.4(SBF2):c.5037+14_5037+19dup
|
rs759123434
|
|
NM_030962.4(SBF2):c.5038-16G>T
|
|
|
NM_030962.4(SBF2):c.5038-18C>T
|
|
|
NM_030962.4(SBF2):c.5038-9C>G
|
rs1453213030
|
|
NM_030962.4(SBF2):c.5038-9C>T
|
rs1453213030
|
|
NM_030962.4(SBF2):c.5118C>G (p.Leu1706=)
|
|
|
NM_030962.4(SBF2):c.513+10A>G
|
|
|
NM_030962.4(SBF2):c.5139G>A (p.Glu1713=)
|
|
|
NM_030962.4(SBF2):c.514-12C>A
|
rs770141264
|
|
NM_030962.4(SBF2):c.514-9A>G
|
rs906365170
|
|
NM_030962.4(SBF2):c.5169T>C (p.Asn1723=)
|
rs1452599195
|
|
NM_030962.4(SBF2):c.5187A>G (p.Ala1729=)
|
|
|
NM_030962.4(SBF2):c.5202C>T (p.Ser1734=)
|
|
|
NM_030962.4(SBF2):c.5223T>C (p.Asp1741=)
|
|
|
NM_030962.4(SBF2):c.5232-4C>G
|
|
|
NM_030962.4(SBF2):c.525T>C (p.Ser175=)
|
rs2134627335
|
|
NM_030962.4(SBF2):c.5277T>C (p.Gly1759=)
|
rs774505575
|
|
NM_030962.4(SBF2):c.5319+13A>C
|
|
|
NM_030962.4(SBF2):c.5319+18A>G
|
rs577375809
|
|
NM_030962.4(SBF2):c.5319+6dup
|
rs2133848257
|
|
NM_030962.4(SBF2):c.5319+9C>G
|
rs539959164
|
|
NM_030962.4(SBF2):c.5320-10T>C
|
|
|
NM_030962.4(SBF2):c.5320-13C>T
|
|
|
NM_030962.4(SBF2):c.5371C>T (p.Leu1791=)
|
rs2133841818
|
|
NM_030962.4(SBF2):c.5400T>C (p.Ala1800=)
|
|
|
NM_030962.4(SBF2):c.5451+10T>C
|
|
|
NM_030962.4(SBF2):c.5451+14_5451+17del
|
rs1326251358
|
|
NM_030962.4(SBF2):c.5451+8G>C
|
rs948210964
|
|
NM_030962.4(SBF2):c.5452-13T>C
|
|
|
NM_030962.4(SBF2):c.5452-16T>C
|
|
|
NM_030962.4(SBF2):c.5472G>A (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.5472G>C (p.Val1824=)
|
rs1353568885
|
|
NM_030962.4(SBF2):c.55+13G>A
|
|
|
NM_030962.4(SBF2):c.55+7G>A
|
rs2133630493
|
|
NM_030962.4(SBF2):c.5547C>A (p.Ala1849=)
|
|
|
NM_030962.4(SBF2):c.564A>G (p.Leu188=)
|
|
|
NM_030962.4(SBF2):c.600T>G (p.Ala200=)
|
rs770433606
|
|
NM_030962.4(SBF2):c.612G>A (p.Gln204=)
|
rs1554990046
|
|
NM_030962.4(SBF2):c.615A>G (p.Gln205=)
|
|
|
NM_030962.4(SBF2):c.616T>C (p.Leu206=)
|
rs1590791206
|
|
NM_030962.4(SBF2):c.619+18T>C
|
|
|
NM_030962.4(SBF2):c.636C>T (p.Leu212=)
|
|
|
NM_030962.4(SBF2):c.651A>C (p.Ala217=)
|
rs200293270
|
|
NM_030962.4(SBF2):c.675C>G (p.Leu225=)
|
rs2134514191
|
|
NM_030962.4(SBF2):c.699A>G (p.Arg233=)
|
|
|
NM_030962.4(SBF2):c.6C>G (p.Ala2=)
|
rs1311980728
|
|
NM_030962.4(SBF2):c.752+12A>G
|
|
|
NM_030962.4(SBF2):c.753-10T>C
|
rs2134507238
|
|
NM_030962.4(SBF2):c.753-16T>C
|
rs7128234
|
|
NM_030962.4(SBF2):c.753-18T>C
|
|
|
NM_030962.4(SBF2):c.753-4C>G
|
|
|
NM_030962.4(SBF2):c.75G>A (p.Gly25=)
|
rs1279874044
|
|
NM_030962.4(SBF2):c.804C>T (p.Ser268=)
|
rs763567646
|
|
NM_030962.4(SBF2):c.810G>T (p.Thr270=)
|
rs769963369
|
|
NM_030962.4(SBF2):c.819T>C (p.Ile273=)
|
rs1947929110
|
|
NM_030962.4(SBF2):c.861+9T>G
|
rs1947927028
|
|
NM_030962.4(SBF2):c.862-12T>A
|
|
|
NM_030962.4(SBF2):c.862-15T>C
|
|
|
NM_030962.4(SBF2):c.873C>T (p.Ile291=)
|
rs2134496815
|
|
NM_030962.4(SBF2):c.933C>A (p.Leu311=)
|
|
|
NM_030962.4(SBF2):c.948A>C (p.Leu316=)
|
rs772340409
|
|
NM_030962.4(SBF2):c.975+10A>G
|
|
|
NM_030962.4(SBF2):c.975+8A>G
|
rs371861993
|
|
NM_030962.4(SBF2):c.981A>G (p.Leu327=)
|
|
|
NM_181882.3(PRX):c.1002G>T (p.Gly334=)
|
rs755650027
|
|
NM_181882.3(PRX):c.105G>A (p.Ala35=)
|
|
|
NM_181882.3(PRX):c.108C>G (p.Gly36=)
|
rs771407657
|
|
NM_181882.3(PRX):c.1125C>T (p.Ala375=)
|
rs2145731404
|
|
NM_181882.3(PRX):c.1134C>T (p.Ala378=)
|
|
|
NM_181882.3(PRX):c.1155G>A (p.Arg385=)
|
|
|
NM_181882.3(PRX):c.1167C>T (p.Pro389=)
|
rs1417251724
|
|
NM_181882.3(PRX):c.1242G>A (p.Lys414=)
|
|
|
NM_181882.3(PRX):c.1275T>G (p.Leu425=)
|
rs2145731118
|
|
NM_181882.3(PRX):c.1344T>C (p.Pro448=)
|
|
|
NM_181882.3(PRX):c.135G>C (p.Arg45=)
|
rs779875514
|
|
NM_181882.3(PRX):c.1368C>T (p.Pro456=)
|
|
|
NM_181882.3(PRX):c.138G>A (p.Glu46=)
|
rs1477884504
|
|
NM_181882.3(PRX):c.1401G>A (p.Glu467=)
|
rs572962587
|
|
NM_181882.3(PRX):c.1404G>A (p.Val468=)
|
|
|
NM_181882.3(PRX):c.1410C>G (p.Leu470=)
|
|
|
NM_181882.3(PRX):c.1416G>A (p.Lys472=)
|
|
|
NM_181882.3(PRX):c.144C>T (p.Arg48=)
|
|
|
NM_181882.3(PRX):c.1467G>T (p.Val489=)
|
|
|
NM_181882.3(PRX):c.1473T>C (p.Leu491=)
|
|
|
NM_181882.3(PRX):c.1482A>G (p.Val494=)
|
|
|
NM_181882.3(PRX):c.1491C>G (p.Pro497=)
|
rs1224453835
|
|
NM_181882.3(PRX):c.1497G>A (p.Val499=)
|
rs2145730703
|
|
NM_181882.3(PRX):c.1515A>G (p.Pro505=)
|
rs1234698192
|
|
NM_181882.3(PRX):c.1596G>A (p.Lys532=)
|
rs751136125
|
|
NM_181882.3(PRX):c.159C>G (p.Ala53=)
|
rs763507069
|
|
NM_181882.3(PRX):c.1617G>A (p.Pro539=)
|
|
|
NM_181882.3(PRX):c.1620G>A (p.Glu540=)
|
|
|
NM_181882.3(PRX):c.1647G>A (p.Pro549=)
|
|
|
NM_181882.3(PRX):c.1680A>C (p.Ser560=)
|
rs1194012098
|
|
NM_181882.3(PRX):c.168C>T (p.Ser56=)
|
|
|
NM_181882.3(PRX):c.1695A>G (p.Pro565=)
|
rs1000191235
|
|
NM_181882.3(PRX):c.1716G>A (p.Val572=)
|
rs184025564
|
|
NM_181882.3(PRX):c.1725G>A (p.Pro575=)
|
rs1043949955
|
|
NM_181882.3(PRX):c.1728A>G (p.Lys576=)
|
|
|
NM_181882.3(PRX):c.1746C>T (p.Val582=)
|
rs946852986
|
|
NM_181882.3(PRX):c.1767G>A (p.Lys589=)
|
|
|
NM_181882.3(PRX):c.1806A>G (p.Glu602=)
|
rs527537921
|
|
NM_181882.3(PRX):c.1818G>A (p.Pro606=)
|
rs768022787
|
|
NM_181882.3(PRX):c.184+11C>T
|
|
|
NM_181882.3(PRX):c.184+13G>A
|
|
|
NM_181882.3(PRX):c.184+19T>G
|
|
|
NM_181882.3(PRX):c.184+9G>C
|
|
|
NM_181882.3(PRX):c.1845T>C (p.Asp615=)
|
|
|
NM_181882.3(PRX):c.185-11C>A
|
|
|
NM_181882.3(PRX):c.185-13A>T
|
|
|
NM_181882.3(PRX):c.185-4G>T
|
rs1322328826
|
|
NM_181882.3(PRX):c.185-5C>T
|
|
|
NM_181882.3(PRX):c.185-9C>T
|
rs1555801635
|
|
NM_181882.3(PRX):c.1851C>T (p.His617=)
|
rs2145729833
|
|
NM_181882.3(PRX):c.1857A>G (p.Pro619=)
|
rs779898963
|
|
NM_181882.3(PRX):c.1938G>A (p.Glu646=)
|
|
|
NM_181882.3(PRX):c.1947G>A (p.Val649=)
|
rs2145729571
|
|
NM_181882.3(PRX):c.1950C>G (p.Pro650=)
|
|
|
NM_181882.3(PRX):c.1953T>C (p.Asp651=)
|
|
|
NM_181882.3(PRX):c.1956G>A (p.Val652=)
|
|
|
NM_181882.3(PRX):c.1980G>A (p.Pro660=)
|
rs777413169
|
|
NM_181882.3(PRX):c.1980G>T (p.Pro660=)
|
rs777413169
|
|
NM_181882.3(PRX):c.1986C>T (p.Val662=)
|
rs1279008110
|
|
NM_181882.3(PRX):c.2037A>T (p.Arg679=)
|
rs2145729366
|
|
NM_181882.3(PRX):c.2067A>G (p.Ser689=)
|
|
|
NM_181882.3(PRX):c.2088G>A (p.Val696=)
|
rs1053269682
|
|
NM_181882.3(PRX):c.2106C>G (p.Pro702=)
|
rs183461864
|
|
NM_181882.3(PRX):c.2127G>A (p.Val709=)
|
|
|
NM_181882.3(PRX):c.2178G>A (p.Glu726=)
|
rs761322510
|
|
NM_181882.3(PRX):c.2184A>G (p.Lys728=)
|
rs2145729003
|
|
NM_181882.3(PRX):c.2190C>T (p.Pro730=)
|
rs1336238948
|
|
NM_181882.3(PRX):c.2202G>A (p.Glu734=)
|
|
|
NM_181882.3(PRX):c.2217T>C (p.Asp739=)
|
|
|
NM_181882.3(PRX):c.2229C>G (p.Pro743=)
|
|
|
NM_181882.3(PRX):c.222C>T (p.Asn74=)
|
|
|
NM_181882.3(PRX):c.2241G>A (p.Leu747=)
|
|
|
NM_181882.3(PRX):c.2247A>G (p.Lys749=)
|
|
|
NM_181882.3(PRX):c.225C>T (p.Phe75=)
|
|
|
NM_181882.3(PRX):c.2292C>G (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.2292C>T (p.Pro764=)
|
rs142637195
|
|
NM_181882.3(PRX):c.231C>T (p.Tyr77=)
|
rs752192677
|
|
NM_181882.3(PRX):c.2331C>T (p.Pro777=)
|
|
|
NM_181882.3(PRX):c.2355G>A (p.Lys785=)
|
rs2145728615
|
|
NM_181882.3(PRX):c.2400G>A (p.Lys800=)
|
rs2079430394
|
|
NM_181882.3(PRX):c.24C>T (p.Ala8=)
|
|
|
NM_181882.3(PRX):c.2509C>T (p.Leu837=)
|
rs1177784082
|
|
NM_181882.3(PRX):c.2637A>G (p.Gly879=)
|
|
|
NM_181882.3(PRX):c.2641C>A (p.Arg881=)
|
rs375201649
|
|
NM_181882.3(PRX):c.2652C>T (p.Gly884=)
|
rs768242642
|
|
NM_181882.3(PRX):c.27+12C>A
|
|
|
NM_181882.3(PRX):c.27+12C>T
|
rs376353333
|
|
NM_181882.3(PRX):c.27+15G>A
|
|
|
NM_181882.3(PRX):c.27+19T>C
|
rs534546929
|
|
NM_181882.3(PRX):c.2700T>C (p.Ser900=)
|
|
|
NM_181882.3(PRX):c.2784T>C (p.Ser928=)
|
rs766519481
|
|
NM_181882.3(PRX):c.2793C>T (p.Phe931=)
|
rs750559680
|
|
NM_181882.3(PRX):c.28-13C>T
|
|
|
NM_181882.3(PRX):c.28-14G>A
|
|
|
NM_181882.3(PRX):c.28-20C>T
|
rs757487813
|
|
NM_181882.3(PRX):c.28-4G>A
|
|
|
NM_181882.3(PRX):c.2898C>T (p.Leu966=)
|
|
|
NM_181882.3(PRX):c.2910G>A (p.Arg970=)
|
|
|
NM_181882.3(PRX):c.2913G>A (p.Val971=)
|
rs1599652077
|
|
NM_181882.3(PRX):c.2913G>T (p.Val971=)
|
rs1599652077
|
|
NM_181882.3(PRX):c.2916G>T (p.Gly972=)
|
rs1555800751
|
|
NM_181882.3(PRX):c.2928G>A (p.Glu976=)
|
|
|
NM_181882.3(PRX):c.3036C>T (p.Ala1012=)
|
|
|
NM_181882.3(PRX):c.3057C>G (p.Pro1019=)
|
rs1330286599
|
|
NM_181882.3(PRX):c.3060G>A (p.Arg1020=)
|
rs761267361
|
|
NM_181882.3(PRX):c.3090C>T (p.Gly1030=)
|
rs2145727261
|
|
NM_181882.3(PRX):c.3102G>A (p.Glu1034=)
|
rs774688060
|
|
NM_181882.3(PRX):c.3112C>T (p.Leu1038=)
|
|
|
NM_181882.3(PRX):c.3120A>C (p.Pro1040=)
|
|
|
NM_181882.3(PRX):c.3133T>C (p.Leu1045=)
|
|
|
NM_181882.3(PRX):c.3177C>G (p.Pro1059=)
|
rs2145727107
|
|
NM_181882.3(PRX):c.3249G>A (p.Pro1083=)
|
|
|
NM_181882.3(PRX):c.3264G>A (p.Glu1088=)
|
|
|
NM_181882.3(PRX):c.3291C>T (p.Pro1097=)
|
|
|
NM_181882.3(PRX):c.3294G>A (p.Glu1098=)
|
rs1599651349
|
|
NM_181882.3(PRX):c.3309G>A (p.Thr1103=)
|
rs557336965
|
|
NM_181882.3(PRX):c.3336A>G (p.Ala1112=)
|
rs779789272
|
|
NM_181882.3(PRX):c.3387C>T (p.Ser1129=)
|
rs2145726595
|
|
NM_181882.3(PRX):c.3393C>T (p.Ala1131=)
|
rs2145726580
|
|
NM_181882.3(PRX):c.3396G>C (p.Gly1132=)
|
rs2145726564
|
|
NM_181882.3(PRX):c.3453C>T (p.Ser1151=)
|
|
|
NM_181882.3(PRX):c.3459A>G (p.Pro1153=)
|
rs1599650963
|
|
NM_181882.3(PRX):c.3519A>C (p.Thr1173=)
|
rs567285703
|
|
NM_181882.3(PRX):c.3531A>G (p.Ala1177=)
|
rs1465687338
|
|
NM_181882.3(PRX):c.3651A>G (p.Thr1217=)
|
rs2145725969
|
|
NM_181882.3(PRX):c.3672C>T (p.Asp1224=)
|
|
|
NM_181882.3(PRX):c.3681A>G (p.Leu1227=)
|
|
|
NM_181882.3(PRX):c.3714A>C (p.Thr1238=)
|
|
|
NM_181882.3(PRX):c.3729G>A (p.Leu1243=)
|
|
|
NM_181882.3(PRX):c.3733C>T (p.Leu1245=)
|
|
|
NM_181882.3(PRX):c.3738G>A (p.Lys1246=)
|
|
|
NM_181882.3(PRX):c.375C>T (p.Ala125=)
|
rs2145733991
|
|
NM_181882.3(PRX):c.379C>T (p.Leu127=)
|
rs886054441
|
|
NM_181882.3(PRX):c.3801G>C (p.Gly1267=)
|
|
|
NM_181882.3(PRX):c.381+15C>T
|
|
|
NM_181882.3(PRX):c.381+16C>G
|
|
|
NM_181882.3(PRX):c.3810T>C (p.Arg1270=)
|
|
|
NM_181882.3(PRX):c.382-17C>T
|
rs889158287
|
|
NM_181882.3(PRX):c.382-19C>T
|
|
|
NM_181882.3(PRX):c.382-20C>T
|
|
|
NM_181882.3(PRX):c.3831C>G (p.Pro1277=)
|
rs577796628
|
|
NM_181882.3(PRX):c.3831C>T (p.Pro1277=)
|
rs577796628
|
|
NM_181882.3(PRX):c.3834C>T (p.Asp1278=)
|
|
|
NM_181882.3(PRX):c.3846G>T (p.Ser1282=)
|
rs143289108
|
|
NM_181882.3(PRX):c.384C>T (p.Asn128=)
|
|
|
NM_181882.3(PRX):c.3867C>G (p.Ala1289=)
|
|
|
NM_181882.3(PRX):c.3867C>T (p.Ala1289=)
|
rs759245840
|
|
NM_181882.3(PRX):c.3900C>G (p.Ala1300=)
|
rs757223803
|
|
NM_181882.3(PRX):c.3900C>T (p.Ala1300=)
|
|
|
NM_181882.3(PRX):c.3972G>A (p.Glu1324=)
|
rs2145725286
|
|
NM_181882.3(PRX):c.3997C>T (p.Leu1333=)
|
rs2145725256
|
|
NM_181882.3(PRX):c.4035T>A (p.Thr1345=)
|
|
|
NM_181882.3(PRX):c.4056C>T (p.Pro1352=)
|
|
|
NM_181882.3(PRX):c.4059GGA[8] (p.Glu1361dup)
|
rs139624657
|
|
NM_181882.3(PRX):c.4101C>T (p.Ala1367=)
|
|
|
NM_181882.3(PRX):c.4110C>A (p.Arg1370=)
|
rs2145724978
|
|
NM_181882.3(PRX):c.4131C>A (p.Arg1377=)
|
rs2145724900
|
|
NM_181882.3(PRX):c.4134G>A (p.Leu1378=)
|
rs2079406117
|
|
NM_181882.3(PRX):c.4173G>A (p.Arg1391=)
|
|
|
NM_181882.3(PRX):c.4176G>A (p.Gly1392=)
|
|
|
NM_181882.3(PRX):c.4224C>G (p.Pro1408=)
|
rs1555800370
|
|
NM_181882.3(PRX):c.4251A>G (p.Leu1417=)
|
|
|
NM_181882.3(PRX):c.4335A>G (p.Thr1445=)
|
|
|
NM_181882.3(PRX):c.4365G>A (p.Gly1455=)
|
rs2079402966
|
|
NM_181882.3(PRX):c.444C>G (p.Pro148=)
|
rs765210929
|
|
NM_181882.3(PRX):c.474C>T (p.Phe158=)
|
rs1286146998
|
|
NM_181882.3(PRX):c.489C>T (p.Phe163=)
|
rs2145732977
|
|
NM_181882.3(PRX):c.573T>A (p.Pro191=)
|
|
|
NM_181882.3(PRX):c.577C>T (p.Leu193=)
|
rs1007677763
|
|
NM_181882.3(PRX):c.586C>A (p.Arg196=)
|
|
|
NM_181882.3(PRX):c.594G>T (p.Val198=)
|
|
|
NM_181882.3(PRX):c.597C>A (p.Ala199=)
|
|
|
NM_181882.3(PRX):c.597C>G (p.Ala199=)
|
rs144157275
|
|
NM_181882.3(PRX):c.630C>T (p.Ala210=)
|
|
|
NM_181882.3(PRX):c.642C>G (p.Pro214=)
|
|
|
NM_181882.3(PRX):c.666G>A (p.Glu222=)
|
rs2145732499
|
|
NM_181882.3(PRX):c.706C>T (p.Leu236=)
|
|
|
NM_181882.3(PRX):c.717G>T (p.Pro239=)
|
rs761293957
|
|
NM_181882.3(PRX):c.735G>A (p.Glu245=)
|
|
|
NM_181882.3(PRX):c.744C>A (p.Val248=)
|
|
|
NM_181882.3(PRX):c.768T>G (p.Ala256=)
|
|
|
NM_181882.3(PRX):c.771C>T (p.Ala257=)
|
rs1555801357
|
|
NM_181882.3(PRX):c.774C>A (p.Pro258=)
|
|
|
NM_181882.3(PRX):c.786A>C (p.Ala262=)
|
|
|
NM_181882.3(PRX):c.819T>C (p.Leu273=)
|
|
|
NM_181882.3(PRX):c.81C>G (p.Thr27=)
|
|
|
NM_181882.3(PRX):c.822G>T (p.Gly274=)
|
|
|
NM_181882.3(PRX):c.861C>A (p.Ala287=)
|
rs535958285
|
|
NM_181882.3(PRX):c.861C>T (p.Ala287=)
|
rs535958285
|
|
NM_181882.3(PRX):c.876C>T (p.Val292=)
|
|
|
NM_181882.3(PRX):c.888G>A (p.Glu296=)
|
|
|
NM_181882.3(PRX):c.903C>G (p.Pro301=)
|
rs2145731882
|
|
NM_181882.3(PRX):c.930C>T (p.Pro310=)
|
rs1301252557
|
|