NM_001122659.3(EDNRB):c.552T>C (p.Ser184=)
|
rs5348
|
0.98435
|
NM_020975.6(RET):c.*1506G>A
|
rs2742241
|
0.83094
|
NM_020975.6(RET):c.73+9277T>C
|
rs2435357
|
0.79636
|
NM_020975.6(RET):c.1296A>G (p.Ala432=)
|
rs1800860
|
0.74268
|
NM_000514.4(GDNF):c.*2213G>A
|
rs2973051
|
0.69338
|
NM_001122659.3(EDNRB):c.831A>G (p.Leu277=)
|
rs5351
|
0.58046
|
NM_000514.4(GDNF):c.*1605T>C
|
rs3749692
|
0.52136
|
NM_014000.3(VCL):c.2388G>A (p.Pro796=)
|
rs767809
|
0.42862
|
NM_001010848.4(NRG3):c.1986C>T (p.Ser662=)
|
rs2295933
|
0.36600
|
NM_000514.4(GDNF):c.-51A>G
|
rs2973033
|
0.36519
|
NM_000514.4(GDNF):c.*2162G>T
|
rs17379771
|
0.29955
|
NM_001318241.2(TBATA):c.666T>C (p.Ala222=)
|
rs2254433
|
0.29892
|
NM_001352890.3(DENND3):c.1350C>T (p.Phe450=)
|
rs2289001
|
0.26784
|
NM_000514.4(GDNF):c.*1651A>G
|
rs11111
|
0.22202
|
NM_020975.6(RET):c.*1116T>C
|
rs2435355
|
0.22170
|
NM_020975.6(RET):c.135= (p.Ala45=)
|
rs1800858
|
0.20726
|
NM_020975.6(RET):c.337+9G>A
|
rs2435351
|
0.20641
|
NM_020975.6(RET):c.2712C>G (p.Ser904=)
|
rs1800863
|
0.17043
|
NM_020975.6(RET):c.*388G>A
|
rs3026782
|
0.17032
|
NM_020975.6(RET):c.*95C>T
|
rs17028
|
0.16697
|
NM_020975.6(RET):c.2071G>A (p.Gly691Ser)
|
rs1799939
|
0.16640
|
NM_001010848.4(NRG3):c.823+1856C>G
|
rs1884282
|
0.13286
|
NM_001010848.4(NRG3):c.1770A>G (p.Pro590=)
|
rs17101196
|
0.09216
|
NM_001102654.2(NTF3):c.266G>A (p.Gly89Glu)
|
rs1805149
|
0.08142
|
NM_000514.4(GDNF):c.*1264C>T
|
rs62360370
|
0.05866
|
NM_016320.5(NUP98):c.2637G>A (p.Pro879=)
|
rs35803045
|
0.05148
|
NM_000514.4(GDNF):c.*2883G>A
|
rs77776214
|
0.04880
|
NM_000514.4(GDNF):c.*529G>A
|
rs58787312
|
0.04641
|
NM_020975.6(RET):c.*1969T>C
|
rs3026785
|
0.04255
|
NM_020975.6(RET):c.2508C>T (p.Ser836=)
|
rs1800862
|
0.03791
|
NM_020975.6(RET):c.*1591G>A
|
rs76759170
|
0.03751
|
NM_000514.4(GDNF):c.*2204G>T
|
rs72745194
|
0.03446
|
NM_000514.4(GDNF):c.*1785G>T
|
rs115322727
|
0.02975
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_000514.4(GDNF):c.429G>A (p.Arg143=)
|
rs36010631
|
0.02743
|
NM_001122659.3(EDNRB):c.*1767C>T
|
rs3027092
|
0.02325
|
NM_000514.4(GDNF):c.*1141C>A
|
rs2972929
|
0.02126
|
NM_001122659.3(EDNRB):c.*1546A>G
|
rs3027094
|
0.01879
|
NM_207034.3(EDN3):c.*915C>T
|
rs11570357
|
0.01818
|
NM_207034.3(EDN3):c.*957C>T
|
rs3026572
|
0.01630
|
NM_207034.3(EDN3):c.*864C>G
|
rs3026573
|
0.01621
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_000514.4(GDNF):c.*1389A>G
|
rs78613670
|
0.01508
|
NM_001122659.3(EDNRB):c.*1310C>T
|
rs3027095
|
0.01448
|
NM_207034.3(EDN3):c.*1012C>T
|
rs11570358
|
0.01437
|
NM_000115.5(EDNRB):c.-205G>A
|
rs12720104
|
0.01434
|
NM_000514.4(GDNF):c.*988A>G
|
rs79669773
|
0.01403
|
NM_001122659.3(EDNRB):c.*903G>A
|
rs9600947
|
0.01157
|
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=)
|
rs5349
|
0.01149
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_000115.5(EDNRB):c.-206C>T
|
rs12720103
|
0.01017
|
NM_000514.4(GDNF):c.*1693G>T
|
rs188617599
|
0.00946
|
NM_207034.3(EDN3):c.*600A>G
|
rs11570356
|
0.00906
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_000115.5(EDNRB):c.-225T>A
|
rs142748526
|
0.00862
|
NM_000514.4(GDNF):c.*2713G>A
|
rs143311673
|
0.00725
|
NM_207034.3(EDN3):c.*165A>G
|
rs11570353
|
0.00713
|
NM_020975.6(RET):c.*330A>G
|
rs141460872
|
0.00640
|
NM_207034.3(EDN3):c.-77T>A
|
rs11570254
|
0.00577
|
NM_000514.4(GDNF):c.*93A>T
|
rs45535335
|
0.00564
|
NM_000115.5(EDNRB):c.-64C>T
|
rs140686455
|
0.00559
|
NM_000514.4(GDNF):c.*363A>T
|
rs45611434
|
0.00554
|
NM_020975.6(RET):c.*1870C>T
|
rs146771196
|
0.00539
|
NM_002658.6(PLAU):c.172G>A (p.Gly58Arg)
|
rs55744193
|
0.00504
|
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe)
|
rs5346
|
0.00500
|
NM_000514.4(GDNF):c.*450C>T
|
rs141395105
|
0.00496
|
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser)
|
rs1801710
|
0.00475
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_207034.3(EDN3):c.525A>G (p.Gln175=)
|
rs34780366
|
0.00474
|
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln)
|
rs141893504
|
0.00428
|
NM_001122659.3(EDNRB):c.*296A>G
|
rs12720203
|
0.00388
|
NM_207034.3(EDN3):c.*1147A>G
|
rs3026571
|
0.00371
|
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met)
|
rs5350
|
0.00348
|
NM_001370640.6(OR1F1):c.47G>A (p.Gly16Glu)
|
rs142486394
|
0.00348
|
NM_000514.4(GDNF):c.540A>G (p.Arg180=)
|
rs112417561
|
0.00329
|
NM_000514.4(GDNF):c.*1406G>A
|
rs528922361
|
0.00328
|
NM_001122659.3(EDNRB):c.*2463T>C
|
rs139792924
|
0.00322
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000514.4(GDNF):c.*2440G>A
|
rs78865769
|
0.00307
|
NM_002253.4(KDR):c.2066C>T (p.Thr689Met)
|
rs34038364
|
0.00307
|
NM_020975.6(RET):c.*1583G>A
|
rs192065891
|
0.00300
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp)
|
rs36119840
|
0.00272
|
NM_020975.6(RET):c.*1599G>A
|
rs145954635
|
0.00265
|
NM_000514.4(GDNF):c.*2150T>G
|
rs181589663
|
0.00263
|
NM_000514.4(GDNF):c.*1004T>C
|
rs79370077
|
0.00261
|
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys)
|
rs138878772
|
0.00261
|
NM_020975.6(RET):c.*1558A>C
|
rs142572876
|
0.00260
|
NM_000115.5(EDNRB):c.-228C>T
|
rs144954195
|
0.00239
|
NM_020975.6(RET):c.1336G>C (p.Gly446Arg)
|
rs115423919
|
0.00238
|
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)
|
rs76466003
|
0.00230
|
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)
|
rs35586704
|
0.00228
|
NM_001122659.3(EDNRB):c.*1412C>T
|
rs202238915
|
0.00226
|
NM_020975.6(RET):c.*1812C>A
|
rs183817000
|
0.00220
|
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser)
|
rs140666848
|
0.00218
|
NM_001122659.3(EDNRB):c.*2258G>T
|
rs186739277
|
0.00211
|
NM_000514.4(GDNF):c.*1541T>A
|
rs138502514
|
0.00209
|
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=)
|
rs139317762
|
0.00203
|
NM_000514.4(GDNF):c.*1592G>T
|
rs546517198
|
0.00188
|
NM_003872.3(NRP2):c.1000C>T (p.Arg334Cys)
|
rs114144673
|
0.00186
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_020975.6(RET):c.468C>T (p.Ala156=)
|
rs141290380
|
0.00173
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
0.00164
|
NM_001377.3(DYNC2H1):c.12366+8A>G
|
rs200404815
|
0.00156
|
NM_000514.4(GDNF):c.*1276A>G
|
rs142426358
|
0.00150
|
NM_000514.4(GDNF):c.*1782G>A
|
rs147083416
|
0.00141
|
NM_018900.4(PCDHA1):c.2420G>A (p.Arg807His)
|
rs150254638
|
0.00140
|
NM_020975.6(RET):c.654G>A (p.Pro218=)
|
rs137928436
|
0.00138
|
NM_000514.4(GDNF):c.*2014G>A
|
rs530864008
|
0.00114
|
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val)
|
rs138287857
|
0.00112
|
NM_020975.6(RET):c.*1130A>G
|
rs572936041
|
0.00112
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_020975.6(RET):c.-132G>T
|
rs886046985
|
0.00103
|
NM_001122659.3(EDNRB):c.*1496G>A
|
rs143210700
|
0.00099
|
NM_020975.6(RET):c.626-41G>A
|
rs572623103
|
0.00098
|
NM_207034.3(EDN3):c.*177C>A
|
rs11570354
|
0.00096
|
NM_001301130.2(POLR2F):c.453-24294G>C
|
rs533778281
|
0.00095
|
NM_207034.3(EDN3):c.*171G>A
|
rs3026575
|
0.00092
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_000514.4(GDNF):c.*2267G>A
|
rs577631751
|
0.00082
|
NM_020975.6(RET):c.1119G>A (p.Ala373=)
|
rs113931414
|
0.00079
|
NM_007199.3(IRAK3):c.1461del (p.Asn487fs)
|
rs776951445
|
0.00071
|
NM_020975.6(RET):c.1465G>A (p.Asp489Asn)
|
rs9282834
|
0.00068
|
NM_207034.3(EDN3):c.*44T>C
|
rs200872063
|
0.00068
|
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln)
|
rs144018404
|
0.00063
|
NM_207034.3(EDN3):c.-44C>T
|
rs368814466
|
0.00062
|
NM_001122659.3(EDNRB):c.*2167C>G
|
rs191136728
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_001122659.3(EDNRB):c.*2055A>G
|
rs12720204
|
0.00054
|
NM_020975.6(RET):c.*1430A>G
|
rs775114955
|
0.00053
|
NM_020975.6(RET):c.225G>A (p.Thr75=)
|
rs151267865
|
0.00052
|
NM_020975.6(RET):c.*29C>A
|
rs199639914
|
0.00050
|
NM_020975.6(RET):c.-2C>A
|
rs876657980
|
0.00049
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu)
|
rs41298555
|
0.00046
|
NM_000514.4(GDNF):c.*5G>A
|
rs145996577
|
0.00045
|
NM_020975.6(RET):c.*576G>A
|
rs185408658
|
0.00044
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
NM_020975.6(RET):c.*1644G>C
|
rs117119161
|
0.00043
|
NM_001122659.3(EDNRB):c.*1513G>C
|
rs200042120
|
0.00041
|
NM_001620.3(AHNAK):c.7562C>G (p.Pro2521Arg)
|
rs143391519
|
0.00039
|
NM_020975.6(RET):c.*1348G>A
|
rs149252070
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_020975.6(RET):c.2037C>T (p.Pro679=)
|
rs55862116
|
0.00039
|
NM_000115.5(EDNRB):c.-160G>A
|
rs538779808
|
0.00038
|
NM_020975.6(RET):c.200G>A (p.Arg67His)
|
rs192489011
|
0.00036
|
NM_020975.6(RET):c.2939+13T>C
|
rs149417158
|
0.00035
|
NM_207034.3(EDN3):c.426G>A (p.Ala142=)
|
rs187049336
|
0.00035
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_000514.4(GDNF):c.*1199A>T
|
rs77668737
|
0.00033
|
NM_000514.4(GDNF):c.*1612C>A
|
rs200969412
|
0.00031
|
NM_001278116.2(L1CAM):c.2583C>G (p.His861Gln)
|
rs185418119
|
0.00031
|
NM_001366661.1(CLUH):c.3664G>C (p.Asp1222His)
|
rs201361018
|
0.00031
|
NM_020975.6(RET):c.1050C>T (p.Thr350=)
|
rs142188675
|
0.00031
|
NM_000514.4(GDNF):c.292G>T (p.Ala98Ser)
|
rs141837966
|
0.00029
|
NM_001122659.3(EDNRB):c.*2165C>T
|
rs201086847
|
0.00029
|
NM_020975.6(RET):c.341G>A (p.Arg114His)
|
rs76397662
|
0.00029
|
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser)
|
rs121917716
|
0.00028
|
NM_020975.6(RET):c.2673G>A (p.Ser891=)
|
rs201620214
|
0.00027
|
NM_001122659.3(EDNRB):c.*2219A>G
|
rs200177379
|
0.00026
|
NM_001620.3(AHNAK):c.6539A>G (p.Lys2180Arg)
|
rs200438956
|
0.00025
|
NM_000514.4(GDNF):c.*532A>G
|
rs886060602
|
0.00024
|
NM_020975.6(RET):c.2088G>A (p.Ser696=)
|
rs150329150
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_001122659.3(EDNRB):c.*1481G>A
|
rs200394800
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
NM_001397.3(ECE1):c.1879C>T (p.Arg627Trp)
|
rs200894751
|
0.00022
|
NM_014943.5(ZHX2):c.1682G>A (p.Arg561Gln)
|
rs138450443
|
0.00022
|
NM_020975.6(RET):c.*84G>A
|
rs558718557
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_207034.3(EDN3):c.-164G>A
|
rs749699689
|
0.00022
|
NM_000514.4(GDNF):c.*1246C>T
|
rs565833757
|
0.00021
|
NM_001122659.3(EDNRB):c.*1600T>C
|
rs201570543
|
0.00021
|
NM_000514.4(GDNF):c.*1713C>T
|
rs886060593
|
0.00020
|
NM_020975.6(RET):c.*1516C>T
|
rs886985086
|
0.00019
|
NM_020975.6(RET):c.2052G>A (p.Pro684=)
|
rs145122337
|
0.00019
|
NM_001122659.3(EDNRB):c.*2047C>T
|
rs199537579
|
0.00018
|
NM_145117.5(NAV2):c.2500C>T (p.Arg834Trp)
|
rs144875196
|
0.00018
|
NM_000514.4(GDNF):c.*1534G>A
|
rs886060596
|
0.00017
|
NM_207034.3(EDN3):c.*355A>G
|
rs79786751
|
0.00017
|
NM_000514.4(GDNF):c.*795C>T
|
rs187004493
|
0.00016
|
NM_001122659.3(EDNRB):c.*1662T>C
|
rs202174312
|
0.00016
|
NM_000514.4(GDNF):c.*1699G>C
|
rs200330062
|
0.00015
|
NM_000514.4(GDNF):c.222A>G (p.Arg74=)
|
rs139694199
|
0.00015
|
NM_020975.6(RET):c.2522C>T (p.Pro841Leu)
|
rs149891333
|
0.00015
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_020975.6(RET):c.1668C>G (p.Ser556=)
|
rs141771814
|
0.00014
|
NM_020975.6(RET):c.1699G>A (p.Asp567Asn)
|
rs147219360
|
0.00014
|
NM_020975.6(RET):c.2988G>A (p.Pro996=)
|
rs145798106
|
0.00014
|
NM_020975.6(RET):c.3006C>T (p.Ser1002=)
|
rs370970483
|
0.00014
|
NM_207034.3(EDN3):c.*531A>G
|
rs11570355
|
0.00014
|
NM_000514.4(GDNF):c.*1627C>T
|
rs748498805
|
0.00013
|
NM_000514.4(GDNF):c.347G>A (p.Arg116Gln)
|
rs772460903
|
0.00013
|
NM_020975.6(RET):c.868-6C>T
|
rs367688294
|
0.00013
|
NM_020975.6(RET):c.-51C>T
|
rs765384640
|
0.00012
|
NM_020975.6(RET):c.398G>A (p.Arg133His)
|
rs138265837
|
0.00012
|
NM_020975.6(RET):c.597C>T (p.Asn199=)
|
rs55810667
|
0.00012
|
NM_000514.4(GDNF):c.633C>G (p.Ile211Met)
|
rs121918536
|
0.00011
|
NM_001145059.2(IQCF5):c.283C>T (p.Arg95Cys)
|
rs772101978
|
0.00011
|
NM_001384900.1(SEMA3D):c.592G>A (p.Glu198Lys)
|
rs549337695
|
0.00011
|
NM_020975.6(RET):c.1344C>G (p.Asn448Lys)
|
rs549907428
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_020975.6(RET):c.2556C>G (p.Ile852Met)
|
rs377767426
|
0.00011
|
NM_020975.6(RET):c.957C>A (p.Leu319=)
|
rs149926238
|
0.00011
|
NM_001102654.2(NTF3):c.265G>A (p.Gly89Arg)
|
rs540320780
|
0.00010
|
NM_020975.6(RET):c.1353G>T (p.Thr451=)
|
rs201568301
|
0.00010
|
NM_020975.6(RET):c.3243T>C (p.Asp1081=)
|
rs144192900
|
0.00010
|
NM_000514.4(GDNF):c.*2651C>G
|
rs369707461
|
0.00009
|
NM_020975.6(RET):c.1530C>T (p.Ala510=)
|
rs553492964
|
0.00009
|
NM_020975.6(RET):c.2261C>T (p.Thr754Met)
|
rs181856591
|
0.00009
|
NM_020975.6(RET):c.2657G>A (p.Arg886Gln)
|
rs373594744
|
0.00009
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
NM_207034.3(EDN3):c.-85G>A
|
rs886056873
|
0.00009
|
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys)
|
rs372958987
|
0.00009
|
NM_020975.6(RET):c.1596C>T (p.Gly532=)
|
rs144460361
|
0.00008
|
NM_020975.6(RET):c.1879+13C>T
|
rs375573788
|
0.00008
|
NM_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_020975.6(RET):c.3156C>T (p.Leu1052=)
|
rs191769748
|
0.00008
|
NM_207034.3(EDN3):c.-86G>A
|
rs755284881
|
0.00008
|
NM_000115.5(EDNRB):c.-161C>T
|
rs1045550076
|
0.00007
|
NM_020975.6(RET):c.*1326T>C
|
rs141016377
|
0.00007
|
NM_020975.6(RET):c.1182C>T (p.Asn394=)
|
rs376465385
|
0.00007
|
NM_020975.6(RET):c.1371A>T (p.Ser457=)
|
rs376464605
|
0.00007
|
NM_020975.6(RET):c.1702G>A (p.Gly568Ser)
|
rs140464432
|
0.00007
|
NM_020975.6(RET):c.3026T>C (p.Met1009Thr)
|
rs375213011
|
0.00007
|
NM_020975.6(RET):c.81G>A (p.Leu27=)
|
rs369519655
|
0.00007
|
NM_020975.6(RET):c.82G>A (p.Gly28Ser)
|
rs779905135
|
0.00007
|
NM_000115.5(EDNRB):c.-153C>T
|
rs569770148
|
0.00006
|
NM_000514.4(GDNF):c.*1898C>A
|
rs547628776
|
0.00006
|
NM_000514.4(GDNF):c.*2318G>A
|
rs773021483
|
0.00006
|
NM_000514.4(GDNF):c.447C>T (p.Cys149=)
|
rs368244196
|
0.00006
|
NM_000514.4(GDNF):c.61C>T (p.Pro21Ser)
|
rs777451569
|
0.00006
|
NM_001122659.3(EDNRB):c.*1844A>G
|
rs201311811
|
0.00006
|
NM_001556.3(IKBKB):c.815G>A (p.Arg272Gln)
|
rs200841053
|
0.00006
|
NM_006941.4(SOX10):c.832A>G (p.Ile278Val)
|
rs760539449
|
0.00006
|
NM_020975.6(RET):c.*1109T>C
|
rs886047006
|
0.00006
|
NM_020975.6(RET):c.1103G>A (p.Arg368His)
|
rs199529397
|
0.00006
|
NM_020975.6(RET):c.1187C>T (p.Ser396Leu)
|
rs781646869
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.1649-4G>A
|
rs369769303
|
0.00006
|
NM_020975.6(RET):c.2305C>T (p.Leu769=)
|
rs142793711
|
0.00006
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
NM_020975.6(RET):c.2742A>G (p.Pro914=)
|
rs375963128
|
0.00006
|
NM_020975.6(RET):c.3005G>A (p.Ser1002Asn)
|
rs763489828
|
0.00006
|
NM_020975.6(RET):c.604G>A (p.Val202Met)
|
rs751572082
|
0.00006
|
NM_020975.6(RET):c.736C>A (p.His246Asn)
|
rs780756440
|
0.00006
|
NM_207034.3(EDN3):c.*757G>A
|
rs57724975
|
0.00006
|
NM_207034.3(EDN3):c.*916G>A
|
rs1038241486
|
0.00006
|
NM_207034.3(EDN3):c.*962C>T
|
rs138371508
|
0.00006
|
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala)
|
rs374697035
|
0.00006
|
NM_000514.4(GDNF):c.*807G>A
|
rs886060601
|
0.00005
|
NM_000514.4(GDNF):c.-132G>C
|
rs891094114
|
0.00005
|
NM_000514.4(GDNF):c.-42G>T
|
rs1178630406
|
0.00005
|
NM_020975.6(RET):c.*824G>T
|
rs886047002
|
0.00005
|
NM_020975.6(RET):c.1363G>A (p.Val455Ile)
|
rs145966037
|
0.00005
|
NM_020975.6(RET):c.1476C>G (p.Thr492=)
|
rs758249079
|
0.00005
|
NM_020975.6(RET):c.2418C>T (p.Tyr806=)
|
rs553418132
|
0.00005
|
NM_020975.6(RET):c.3059C>T (p.Ala1020Val)
|
rs372191563
|
0.00005
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
NM_020975.6(RET):c.452A>G (p.Asn151Ser)
|
rs150261092
|
0.00005
|
NM_020975.6(RET):c.73+17G>T
|
rs763327195
|
0.00005
|
NM_000514.4(GDNF):c.*717T>G
|
rs753516612
|
0.00004
|
NM_001122659.3(EDNRB):c.*2064T>G
|
rs200431243
|
0.00004
|
NM_001122659.3(EDNRB):c.*2309T>C
|
rs200621629
|
0.00004
|
NM_001122659.3(EDNRB):c.*2452G>A
|
rs200266252
|
0.00004
|
NM_001122659.3(EDNRB):c.*414G>A
|
rs750626886
|
0.00004
|
NM_001122659.3(EDNRB):c.318T>C (p.Val106=)
|
rs200777477
|
0.00004
|
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=)
|
rs1050929
|
0.00004
|
NM_018026.4(PACS1):c.1069G>A (p.Glu357Lys)
|
rs750459659
|
0.00004
|
NM_020975.6(RET):c.*1659T>C
|
rs886047012
|
0.00004
|
NM_020975.6(RET):c.*1900C>A
|
rs956882000
|
0.00004
|
NM_020975.6(RET):c.1094C>T (p.Ser365Leu)
|
rs763670106
|
0.00004
|
NM_020975.6(RET):c.1420C>T (p.Arg474Trp)
|
rs775842917
|
0.00004
|
NM_020975.6(RET):c.1423C>T (p.Arg475Trp)
|
rs746512075
|
0.00004
|
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)
|
rs537874538
|
0.00004
|
NM_020975.6(RET):c.1891G>A (p.Asp631Asn)
|
rs377767406
|
0.00004
|
NM_020975.6(RET):c.2124C>T (p.Ala708=)
|
rs749646777
|
0.00004
|
NM_020975.6(RET):c.2290G>A (p.Ala764Thr)
|
rs748799148
|
0.00004
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
NM_020975.6(RET):c.2427C>T (p.Tyr809=)
|
rs577929869
|
0.00004
|
NM_020975.6(RET):c.2477A>C (p.Tyr826Ser)
|
rs34617196
|
0.00004
|
NM_020975.6(RET):c.2498G>A (p.Arg833His)
|
rs587782636
|
0.00004
|
NM_020975.6(RET):c.2790G>A (p.Thr930=)
|
rs746599792
|
0.00004
|
NM_020975.6(RET):c.2931C>G (p.Ser977Arg)
|
rs375414982
|
0.00004
|
NM_020975.6(RET):c.2932G>A (p.Glu978Lys)
|
rs758800351
|
0.00004
|
NM_020975.6(RET):c.2976G>A (p.Pro992=)
|
rs528823385
|
0.00004
|
NM_020975.6(RET):c.3094G>A (p.Gly1032Ser)
|
rs757373375
|
0.00004
|
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu)
|
rs79853121
|
0.00004
|
NM_020975.6(RET):c.3199C>T (p.Pro1067Ser)
|
rs775583354
|
0.00004
|
NM_020975.6(RET):c.3253A>G (p.Thr1085Ala)
|
rs756465544
|
0.00004
|
NM_020975.6(RET):c.603C>T (p.Ser201=)
|
rs780120451
|
0.00004
|
NM_020975.6(RET):c.718G>C (p.Val240Leu)
|
rs375120544
|
0.00004
|
NM_020975.6(RET):c.79T>C (p.Leu27=)
|
rs377160777
|
0.00004
|
NM_207034.3(EDN3):c.*585C>T
|
rs886056883
|
0.00004
|
NM_207034.3(EDN3):c.*606A>C
|
rs1421722806
|
0.00004
|
NM_207034.3(EDN3):c.*708C>T
|
rs746433345
|
0.00004
|
NM_207034.3(EDN3):c.651C>T (p.Pro217=)
|
rs748005608
|
0.00004
|
NM_000115.5(EDNRB):c.-52G>A
|
rs1024731982
|
0.00003
|
NM_000514.4(GDNF):c.*1375T>C
|
rs566717310
|
0.00003
|
NM_001122659.3(EDNRB):c.*1151T>A
|
rs1321459235
|
0.00003
|
NM_001122659.3(EDNRB):c.*179G>A
|
rs201848931
|
0.00003
|
NM_001122659.3(EDNRB):c.*1906G>A
|
rs886050320
|
0.00003
|
NM_001122659.3(EDNRB):c.*2580C>T
|
rs1033570814
|
0.00003
|
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)
|
rs781214034
|
0.00003
|
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=)
|
rs375637651
|
0.00003
|
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)
|
rs104894387
|
0.00003
|
NM_001389.5(DSCAM):c.2363C>T (p.Ala788Val)
|
rs1419539530
|
0.00003
|
NM_004557.4(NOTCH4):c.1118G>A (p.Arg373Gln)
|
rs745883985
|
0.00003
|
NM_006122.4(MAN2A2):c.478G>A (p.Asp160Asn)
|
rs374688808
|
0.00003
|
NM_020975.6(RET):c.*1212C>T
|
rs551902553
|
0.00003
|
NM_020975.6(RET):c.1201A>T (p.Ser401Cys)
|
rs140638866
|
0.00003
|
NM_020975.6(RET):c.1312G>A (p.Val438Ile)
|
rs774474422
|
0.00003
|
NM_020975.6(RET):c.1573C>T (p.Arg525Trp)
|
rs545625150
|
0.00003
|
NM_020975.6(RET):c.1737C>G (p.Asn579Lys)
|
rs144455821
|
0.00003
|
NM_020975.6(RET):c.178C>T (p.Pro60Ser)
|
rs748402485
|
0.00003
|
NM_020975.6(RET):c.1879+14G>A
|
rs532810255
|
0.00003
|
NM_020975.6(RET):c.1879+18G>A
|
rs368088386
|
0.00003
|
NM_020975.6(RET):c.1897C>G (p.Leu633Val)
|
rs267607010
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_020975.6(RET):c.2225C>T (p.Thr742Met)
|
rs773256580
|
0.00003
|
NM_020975.6(RET):c.2284+15C>T
|
rs768252806
|
0.00003
|
NM_020975.6(RET):c.2332G>A (p.Val778Ile)
|
rs75686697
|
0.00003
|
NM_020975.6(RET):c.2452G>A (p.Glu818Lys)
|
rs377767420
|
0.00003
|
NM_020975.6(RET):c.2542A>G (p.Met848Val)
|
rs794728685
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys)
|
rs587778659
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_020975.6(RET):c.897C>T (p.Phe299=)
|
rs529153319
|
0.00003
|
NM_020975.6(RET):c.96G>A (p.Ser32=)
|
rs139821724
|
0.00003
|
NM_020975.6(RET):c.972G>C (p.Trp324Cys)
|
rs758298916
|
0.00003
|
NM_020975.6(RET):c.977A>G (p.Gln326Arg)
|
rs863224778
|
0.00003
|
NM_207034.3(EDN3):c.*1255C>T
|
rs12322
|
0.00003
|
NM_207034.3(EDN3):c.*586G>A
|
rs886056884
|
0.00003
|
NM_207034.3(EDN3):c.*904A>G
|
rs886056887
|
0.00003
|
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln)
|
rs775489067
|
0.00002
|
NM_000514.4(GDNF):c.*1587G>T
|
rs886060595
|
0.00002
|
NM_001122659.3(EDNRB):c.*1131T>C
|
rs142394468
|
0.00002
|
NM_001122659.3(EDNRB):c.*1474G>A
|
rs886050322
|
0.00002
|
NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser)
|
rs200939685
|
0.00002
|
NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu)
|
rs200548885
|
0.00002
|
NM_006187.4(OAS3):c.1390C>T (p.Arg464Trp)
|
rs750291946
|
0.00002
|
NM_020975.6(RET):c.*1489G>A
|
rs535080963
|
0.00002
|
NM_020975.6(RET):c.1016C>T (p.Ser339Leu)
|
rs774829203
|
0.00002
|
NM_020975.6(RET):c.1253G>A (p.Arg418Gln)
|
rs371731991
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.1399G>C (p.Val467Leu)
|
rs200334340
|
0.00002
|
NM_020975.6(RET):c.1424G>A (p.Arg475Gln)
|
rs138624658
|
0.00002
|
NM_020975.6(RET):c.144G>A (p.Thr48=)
|
rs759872307
|
0.00002
|
NM_020975.6(RET):c.1920C>T (p.Ala640=)
|
rs149768519
|
0.00002
|
NM_020975.6(RET):c.1941C>T (p.Ile647=)
|
rs75225191
|
0.00002
|
NM_020975.6(RET):c.2038G>A (p.Ala680Thr)
|
rs184498773
|
0.00002
|
NM_020975.6(RET):c.2041C>G (p.Gln681Glu)
|
rs567241943
|
0.00002
|
NM_020975.6(RET):c.220G>A (p.Gly74Ser)
|
rs764938319
|
0.00002
|
NM_020975.6(RET):c.2358T>C (p.His786=)
|
rs758715544
|
0.00002
|
NM_020975.6(RET):c.2393-9C>T
|
rs567543719
|
0.00002
|
NM_020975.6(RET):c.2449C>T (p.Arg817Cys)
|
rs142318626
|
0.00002
|
NM_020975.6(RET):c.2488G>A (p.Gly830Arg)
|
rs200127630
|
0.00002
|
NM_020975.6(RET):c.2755G>C (p.Ala919Pro)
|
rs1361265737
|
0.00002
|
NM_020975.6(RET):c.2870C>T (p.Pro957Leu)
|
rs1259087541
|
0.00002
|
NM_020975.6(RET):c.304G>A (p.Asp102Asn)
|
rs201244749
|
0.00002
|
NM_020975.6(RET):c.3113C>T (p.Thr1038Ile)
|
rs200021472
|
0.00002
|
NM_020975.6(RET):c.3191T>C (p.Met1064Thr)
|
rs149513065
|
0.00002
|
NM_020975.6(RET):c.3233C>T (p.Thr1078Met)
|
rs762952212
|
0.00002
|
NM_020975.6(RET):c.406G>A (p.Glu136Lys)
|
rs79014735
|
0.00002
|
NM_020975.6(RET):c.488G>A (p.Arg163Gln)
|
rs149403911
|
0.00002
|
NM_020975.6(RET):c.682G>C (p.Ala228Pro)
|
rs760813493
|
0.00002
|
NM_020975.6(RET):c.723C>T (p.Ala241=)
|
rs544252468
|
0.00002
|
NM_020975.6(RET):c.731C>T (p.Thr244Ile)
|
rs145970248
|
0.00002
|
NM_020975.6(RET):c.825C>T (p.Gly275=)
|
rs150797149
|
0.00002
|
NM_020975.6(RET):c.867+4del
|
rs398124368
|
0.00002
|
NM_020975.6(RET):c.938G>A (p.Arg313Gln)
|
rs77702891
|
0.00002
|
NM_020975.6(RET):c.973G>A (p.Ala325Thr)
|
rs779719517
|
0.00002
|
NM_207034.3(EDN3):c.*1517C>A
|
rs1010065773
|
0.00002
|
NM_207034.3(EDN3):c.*756C>T
|
rs763311172
|
0.00002
|
NM_207034.3(EDN3):c.*963G>A
|
rs559849084
|
0.00002
|
NM_207034.3(EDN3):c.-120C>T
|
rs886056872
|
0.00002
|
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)
|
rs745795470
|
0.00002
|
NM_000115.5(EDNRB):c.-179C>T
|
rs1881861243
|
0.00001
|
NM_000514.4(GDNF):c.*1244A>G
|
rs886060598
|
0.00001
|
NM_000514.4(GDNF):c.*1657C>A
|
rs886060594
|
0.00001
|
NM_000514.4(GDNF):c.*1788G>A
|
rs886060592
|
0.00001
|
NM_000514.4(GDNF):c.*1927C>T
|
rs886060591
|
0.00001
|
NM_000514.4(GDNF):c.*2265T>C
|
rs1475344831
|
0.00001
|
NM_000514.4(GDNF):c.*346C>T
|
rs753233921
|
0.00001
|
NM_000514.4(GDNF):c.*617A>G
|
rs920356737
|
0.00001
|
NM_000514.4(GDNF):c.*907G>A
|
rs751619765
|
0.00001
|
NM_000514.4(GDNF):c.*958A>C
|
rs886060599
|
0.00001
|
NM_000514.4(GDNF):c.272G>A (p.Arg91Gln)
|
rs769492137
|
0.00001
|
NM_001122659.3(EDNRB):c.*1860T>G
|
rs886050321
|
0.00001
|
NM_001122659.3(EDNRB):c.*2292A>C
|
rs759340051
|
0.00001
|
NM_001122659.3(EDNRB):c.*575A>G
|
rs1320252107
|
0.00001
|
NM_001122659.3(EDNRB):c.1194+15C>T
|
rs886050325
|
0.00001
|
NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys)
|
rs750396591
|
0.00001
|
NM_001122659.3(EDNRB):c.191G>T (p.Arg64Leu)
|
rs201002254
|
0.00001
|
NM_001122659.3(EDNRB):c.483+15C>T
|
rs936183003
|
0.00001
|
NM_001286581.2(PHRF1):c.1075G>A (p.Ala359Thr)
|
rs551874512
|
0.00001
|
NM_001301130.2(POLR2F):c.453-24860G>A
|
rs606231342
|
0.00001
|
NM_001318241.2(TBATA):c.157C>T (p.Arg53Cys)
|
rs759944122
|
0.00001
|
NM_003057.3(SLC22A1):c.523C>T (p.Arg175Cys)
|
rs768905186
|
0.00001
|
NM_003248.6(THBS4):c.1885C>T (p.Gln629Ter)
|
rs745310807
|
0.00001
|
NM_007241.4(SNF8):c.629G>A (p.Arg210Gln)
|
rs775611332
|
0.00001
|
NM_020975.6(RET):c.*1112A>G
|
rs1353594500
|
0.00001
|
NM_020975.6(RET):c.*1533A>G
|
rs1838409564
|
0.00001
|
NM_020975.6(RET):c.*175C>G
|
rs886046990
|
0.00001
|
NM_020975.6(RET):c.-158G>A
|
rs886046984
|
0.00001
|
NM_020975.6(RET):c.1008C>G (p.Asn336Lys)
|
rs144981275
|
0.00001
|
NM_020975.6(RET):c.1030G>A (p.Gly344Ser)
|
rs749883001
|
0.00001
|
NM_020975.6(RET):c.1051G>A (p.Val351Ile)
|
rs777716061
|
0.00001
|
NM_020975.6(RET):c.1052T>A (p.Val351Glu)
|
rs749449032
|
0.00001
|
NM_020975.6(RET):c.1079G>A (p.Arg360Gln)
|
rs762472027
|
0.00001
|
NM_020975.6(RET):c.1090A>G (p.Ile364Val)
|
rs1308447836
|
0.00001
|
NM_020975.6(RET):c.1102C>T (p.Arg368Cys)
|
rs754116867
|
0.00001
|
NM_020975.6(RET):c.1138G>A (p.Asp380Asn)
|
rs1394361948
|
0.00001
|
NM_020975.6(RET):c.1151C>G (p.Pro384Arg)
|
rs771679592
|
0.00001
|
NM_020975.6(RET):c.1162G>A (p.Val388Ile)
|
rs776223166
|
0.00001
|
NM_020975.6(RET):c.1165C>T (p.Leu389Phe)
|
rs895556824
|
0.00001
|
NM_020975.6(RET):c.1263+19C>T
|
rs371417381
|
0.00001
|
NM_020975.6(RET):c.1264-8C>T
|
rs769595884
|
0.00001
|
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr)
|
rs1387494484
|
0.00001
|
NM_020975.6(RET):c.1282G>A (p.Glu428Lys)
|
rs1327111345
|
0.00001
|
NM_020975.6(RET):c.138C>T (p.Ala46=)
|
rs1177522214
|
0.00001
|
NM_020975.6(RET):c.1440A>T (p.Glu480Asp)
|
rs763296134
|
0.00001
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1493C>T (p.Ala498Val)
|
rs375677628
|
0.00001
|
NM_020975.6(RET):c.1601T>C (p.Leu534Pro)
|
rs1206429429
|
0.00001
|
NM_020975.6(RET):c.1618A>G (p.Arg540Gly)
|
rs543376293
|
0.00001
|
NM_020975.6(RET):c.1649-7T>C
|
rs758817204
|
0.00001
|
NM_020975.6(RET):c.1756C>T (p.Leu586Phe)
|
rs777604634
|
0.00001
|
NM_020975.6(RET):c.1798C>T (p.Arg600Trp)
|
rs745418960
|
0.00001
|
NM_020975.6(RET):c.1811C>T (p.Ala604Val)
|
rs1286776938
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1890C>T (p.Cys630=)
|
rs781145070
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_020975.6(RET):c.1903C>T (p.Arg635Cys)
|
rs377767410
|
0.00001
|
NM_020975.6(RET):c.1904G>A (p.Arg635His)
|
rs776164321
|
0.00001
|
NM_020975.6(RET):c.1915G>A (p.Ala639Thr)
|
rs777122776
|
0.00001
|
NM_020975.6(RET):c.1921G>A (p.Ala641Thr)
|
rs377767411
|
0.00001
|
NM_020975.6(RET):c.1996A>G (p.Lys666Glu)
|
rs143795581
|
0.00001
|
NM_020975.6(RET):c.199C>T (p.Arg67Cys)
|
rs749390385
|
0.00001
|
NM_020975.6(RET):c.2005A>G (p.Ile669Val)
|
rs776986585
|
0.00001
|
NM_020975.6(RET):c.2018A>C (p.Glu673Ala)
|
rs770100231
|
0.00001
|
NM_020975.6(RET):c.2050C>T (p.Pro684Ser)
|
rs141347316
|
0.00001
|
NM_020975.6(RET):c.2070C>T (p.Ser690=)
|
rs201550433
|
0.00001
|
NM_020975.6(RET):c.2078G>A (p.Arg693His)
|
rs1332256523
|
0.00001
|
NM_020975.6(RET):c.2110G>T (p.Val704Phe)
|
rs927029236
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.2162G>A (p.Arg721Gln)
|
rs1356141763
|
0.00001
|
NM_020975.6(RET):c.2164A>G (p.Lys722Glu)
|
rs1262183810
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_020975.6(RET):c.2182A>G (p.Lys728Glu)
|
rs147216744
|
0.00001
|
NM_020975.6(RET):c.2209A>C (p.Lys737Gln)
|
rs768217520
|
0.00001
|
NM_020975.6(RET):c.2234A>T (p.His745Leu)
|
rs534094626
|
0.00001
|
NM_020975.6(RET):c.2249C>G (p.Ala750Gly)
|
rs752830000
|
0.00001
|
NM_020975.6(RET):c.2268C>T (p.Ala756=)
|
rs370791179
|
0.00001
|
NM_020975.6(RET):c.2286G>C (p.Glu762Asp)
|
rs1323183090
|
0.00001
|
NM_020975.6(RET):c.235C>T (p.Arg79Trp)
|
rs537523906
|
0.00001
|
NM_020975.6(RET):c.2365A>G (p.Lys789Glu)
|
rs1352006130
|
0.00001
|
NM_020975.6(RET):c.236G>A (p.Arg79Gln)
|
rs1318325737
|
0.00001
|
NM_020975.6(RET):c.2370G>T (p.Leu790Phe)
|
rs75030001
|
0.00001
|
NM_020975.6(RET):c.2437C>T (p.Arg813Trp)
|
rs779996040
|
0.00001
|
NM_020975.6(RET):c.2496C>G (p.Ser832Arg)
|
rs764979358
|
0.00001
|
NM_020975.6(RET):c.2538C>T (p.Leu846=)
|
rs201816539
|
0.00001
|
NM_020975.6(RET):c.2546G>A (p.Gly849Asp)
|
rs761130672
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_020975.6(RET):c.2679C>T (p.Phe893=)
|
rs768188546
|
0.00001
|
NM_020975.6(RET):c.2715C>T (p.Tyr905=)
|
rs755023496
|
0.00001
|
NM_020975.6(RET):c.2776C>G (p.His926Asp)
|
rs774215008
|
0.00001
|
NM_020975.6(RET):c.2876G>A (p.Arg959Gln)
|
rs745650861
|
0.00001
|
NM_020975.6(RET):c.2887C>A (p.Leu963Ile)
|
rs864622603
|
0.00001
|
NM_020975.6(RET):c.2939+7G>A
|
rs374565577
|
0.00001
|
NM_020975.6(RET):c.2945G>A (p.Arg982His)
|
rs368550200
|
0.00001
|
NM_020975.6(RET):c.2982A>C (p.Lys994Asn)
|
rs199718928
|
0.00001
|
NM_020975.6(RET):c.2996C>T (p.Ala999Val)
|
rs748288493
|
0.00001
|
NM_020975.6(RET):c.3027G>A (p.Met1009Ile)
|
rs1007307889
|
0.00001
|
NM_020975.6(RET):c.3044A>G (p.Tyr1015Cys)
|
rs1438192223
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.3124G>A (p.Asp1042Asn)
|
rs867206631
|
0.00001
|
NM_020975.6(RET):c.3140C>T (p.Pro1047Leu)
|
rs1305293392
|
0.00001
|
NM_020975.6(RET):c.3174A>C (p.Glu1058Asp)
|
rs569004816
|
0.00001
|
NM_020975.6(RET):c.3176A>G (p.Asn1059Ser)
|
rs772395752
|
0.00001
|
NM_020975.6(RET):c.3179A>G (p.Lys1060Arg)
|
rs370756353
|
0.00001
|
NM_020975.6(RET):c.3184T>C (p.Tyr1062His)
|
rs138010639
|
0.00001
|
NM_020975.6(RET):c.3192G>A (p.Met1064Ile)
|
rs144730090
|
0.00001
|
NM_020975.6(RET):c.3206G>C (p.Trp1069Ser)
|
rs776615468
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.3326T>C (p.Met1109Thr)
|
rs587780813
|
0.00001
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
NM_020975.6(RET):c.334C>T (p.Arg112Cys)
|
rs762626209
|
0.00001
|
NM_020975.6(RET):c.350C>A (p.Pro117His)
|
rs763295929
|
0.00001
|
NM_020975.6(RET):c.431G>A (p.Arg144His)
|
rs551142665
|
0.00001
|
NM_020975.6(RET):c.432C>T (p.Arg144=)
|
rs756999107
|
0.00001
|
NM_020975.6(RET):c.433G>A (p.Val145Ile)
|
rs1311922451
|
0.00001
|
NM_020975.6(RET):c.451A>G (p.Asn151Asp)
|
rs1837661067
|
0.00001
|
NM_020975.6(RET):c.464C>A (p.Pro155Gln)
|
rs999019810
|
0.00001
|
NM_020975.6(RET):c.517T>C (p.Ser173Pro)
|
rs864622361
|
0.00001
|
NM_020975.6(RET):c.548G>A (p.Gly183Asp)
|
rs144801580
|
0.00001
|
NM_020975.6(RET):c.59C>A (p.Pro20Gln)
|
rs1837067697
|
0.00001
|
NM_020975.6(RET):c.602G>C (p.Ser201Thr)
|
rs898525501
|
0.00001
|
NM_020975.6(RET):c.625+11A>G
|
rs778239396
|
0.00001
|
NM_020975.6(RET):c.628G>A (p.Glu210Lys)
|
rs1060500762
|
0.00001
|
NM_020975.6(RET):c.652C>T (p.Pro218Ser)
|
rs1009392744
|
0.00001
|
NM_020975.6(RET):c.677G>C (p.Arg226Pro)
|
rs937818626
|
0.00001
|
NM_020975.6(RET):c.701G>A (p.Arg234Gln)
|
rs756216318
|
0.00001
|
NM_020975.6(RET):c.750C>T (p.Arg250=)
|
rs1013952995
|
0.00001
|
NM_020975.6(RET):c.832A>G (p.Thr278Ala)
|
rs541929171
|
0.00001
|
NM_020975.6(RET):c.890G>A (p.Arg297His)
|
rs1480040525
|
0.00001
|
NM_020975.6(RET):c.943A>C (p.Thr315Pro)
|
rs774637214
|
0.00001
|
NM_207034.1(EDN3):c.*1546T>C
|
rs574618871
|
0.00001
|
NM_207034.3(EDN3):c.*1398C>T
|
rs886056890
|
0.00001
|
NM_207034.3(EDN3):c.*476G>A
|
rs1292701180
|
0.00001
|
NM_207034.3(EDN3):c.*679A>G
|
rs886056885
|
0.00001
|
NM_207034.3(EDN3):c.543-7C>T
|
rs886056874
|
0.00001
|
NM_207034.3(EDN3):c.685C>T (p.Pro229Ser)
|
rs757559436
|
0.00001
|
NM_000115.5(EDNRB):c.-121G>T
|
rs12720105
|
|
NM_000130.5(F5):c.1867A>G (p.Thr623Ala)
|
rs1571577319
|
|
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln)
|
rs1565631094
|
|
NM_000514.4(GDNF):c.*116G>T
|
rs1749884263
|
|
NM_000514.4(GDNF):c.*131G>A
|
rs868643238
|
|
NM_000514.4(GDNF):c.*1331G>C
|
rs886060597
|
|
NM_000514.4(GDNF):c.*1360A>G
|
rs1749830427
|
|
NM_000514.4(GDNF):c.*1433A>T
|
rs1749826503
|
|
NM_000514.4(GDNF):c.*1540A>G
|
rs1749823555
|
|
NM_000514.4(GDNF):c.*2059C>T
|
rs886060590
|
|
NM_000514.4(GDNF):c.*2119C>G
|
rs186253947
|
|
NM_000514.4(GDNF):c.*235G>T
|
rs1749874092
|
|
NM_000514.4(GDNF):c.*2446G>A
|
rs1749788877
|
|
NM_000514.4(GDNF):c.*2556T>A
|
rs886060588
|
|
NM_000514.4(GDNF):c.*2643C>T
|
rs146664109
|
|
NM_000514.4(GDNF):c.*2646C>G
|
rs929512571
|
|
NM_000514.4(GDNF):c.*2828T>A
|
rs200003002
|
|
NM_000514.4(GDNF):c.*912A>G
|
rs886060600
|
|
NM_000514.4(GDNF):c.-26G>T
|
rs1348074191
|
|
NM_000514.4(GDNF):c.-34G>T
|
rs536856799
|
|
NM_000514.4(GDNF):c.151+9C>G
|
rs780518151
|
|
NM_000514.4(GDNF):c.390G>T (p.Leu130Phe)
|
rs1749906739
|
|
NM_000514.4(GDNF):c.460A>T (p.Thr154Ser)
|
rs104893891
|
|
NM_000514.4(GDNF):c.625_630del (p.Gly209_Cys210del)
|
rs1554020079
|
|
NM_001003891.3(MED15):c.943C>A (p.Pro315Thr)
|
rs1453731006
|
|
NM_001025290.3(DPPA5):c.214G>A (p.Gly72Ser)
|
rs1582614694
|
|
NM_001114120.3(DEPDC1):c.1459T>A (p.Ser487Thr)
|
rs1571197028
|
|
NM_001122659.3(EDNRB):c.*1260G>A
|
rs886050323
|
|
NM_001122659.3(EDNRB):c.*1302G>A
|
rs1381062477
|
|
NM_001122659.3(EDNRB):c.*1514G>T
|
rs201845371
|
|
NM_001122659.3(EDNRB):c.*1784A>G
|
rs1285403588
|
|
NM_001122659.3(EDNRB):c.*2041T>C
|
rs200276436
|
|
NM_001122659.3(EDNRB):c.*2355T>C
|
rs886050319
|
|
NM_001122659.3(EDNRB):c.*2426A>C
|
rs886050318
|
|
NM_001122659.3(EDNRB):c.*2665T>C
|
rs1878575169
|
|
NM_001122659.3(EDNRB):c.*585G>C
|
rs201012049
|
|
NM_001122659.3(EDNRB):c.*63G>A
|
rs986500037
|
|
NM_001122659.3(EDNRB):c.*781G>T
|
rs201115297
|
|
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter)
|
rs1566302937
|
|
NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln)
|
rs1878741475
|
|
NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg)
|
rs1261885036
|
|
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile)
|
rs77132068
|
|
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
|
rs77132068
|
|
NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter)
|
rs104894389
|
|
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg)
|
rs1878958050
|
|
NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs)
|
rs769735757
|
|
NM_001201397.2(EDNRB):c.43A>T (p.Lys15Ter)
|
rs267606780
|
|
NM_001293626.2(MGAM2):c.3015G>T (p.Met1005Ile)
|
rs73547308
|
|
NM_001301131.1(POLR2F):c.294-27388_*10734del
|
|
|
NM_001352890.3(DENND3):c.2160del (p.Lys720fs)
|
rs1057519052
|
|
NM_001352890.3(DENND3):c.3330G>A (p.Pro1110=)
|
rs1045303
|
|
NM_001367949.2(FAT3):c.6916G>A (p.Val2306Ile)
|
rs863223333
|
|
NM_001384140.1(PCDH15):c.139G>A (p.Asp47Asn)
|
rs1589906631
|
|
NM_001395413.1(POR):c.1222T>C (p.Ser408Pro)
|
rs781842238
|
|
NM_001397.3(ECE1):c.1067T>G (p.Phe356Cys)
|
rs765763704
|
|
NM_002181.4(IHH):c.151C>A (p.Gln51Lys)
|
rs1553540620
|
|
NM_002615.7(SERPINF1):c.643+8C>T
|
rs149399910
|
|
NM_003924.4(PHOX2B):c.445C>G (p.Arg149Gly)
|
rs1560465785
|
|
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)
|
rs863223334
|
|
NM_005264.8(GFRA1):c.1A>T (p.Met1Leu)
|
rs1589930581
|
|
NM_005264.8(GFRA1):c.779T>C (p.Leu260Pro)
|
rs863223332
|
|
NM_006761.5(YWHAE):c.116T>C (p.Val39Ala)
|
rs1598243579
|
|
NM_006761.5(YWHAE):c.142G>A (p.Ala48Thr)
|
rs1598243550
|
|
NM_014361.4(CNTN5):c.3016G>A (p.Val1006Ile)
|
rs200028794
|
|
NM_014630.3(ZNF592):c.3433C>A (p.Gln1145Lys)
|
rs1596137692
|
|
NM_014795.4(ZEB2):c.3552G>A (p.Glu1184=)
|
rs1573707562
|
|
NM_016320.5(NUP98):c.5207A>G (p.Asn1736Ser)
|
rs1057519323
|
|
NM_018475.5(TMEM165):c.782C>A (p.Ala261Glu)
|
rs1578240731
|
|
NM_020066.5(FMN2):c.162del (p.Gly55fs)
|
rs1572736047
|
|
NM_020170.4(NCLN):c.496C>T (p.Gln166Ter)
|
rs1057519322
|
|
NM_020975.6(RET):c.*1046G>C
|
rs143948954
|
|
NM_020975.6(RET):c.*159G>T
|
rs1838381962
|
|
NM_020975.6(RET):c.*1646T>G
|
rs886047011
|
|
NM_020975.6(RET):c.*1797T>C
|
rs886047013
|
|
NM_020975.6(RET):c.*1797T>G
|
rs886047013
|
|
NM_020975.6(RET):c.*180G>A
|
rs1838382247
|
|
NM_020975.6(RET):c.*1886T>G
|
rs1019095754
|
|
NM_020975.6(RET):c.*492G>C
|
rs568766449
|
|
NM_020975.6(RET):c.*500C>G
|
rs564665995
|
|
NM_020975.6(RET):c.*506G>T
|
rs886046995
|
|
NM_020975.6(RET):c.*538G>T
|
rs886046997
|
|
NM_020975.6(RET):c.*883G>A
|
rs1838396430
|
|
NM_020975.6(RET):c.-160G>T
|
rs567112195
|
|
NM_020975.6(RET):c.-173A>G
|
rs1359755826
|
|
NM_020975.6(RET):c.1039G>A (p.Val347Met)
|
rs1467660660
|
|
NM_020975.6(RET):c.1062T>C (p.Tyr354=)
|
rs1837785673
|
|
NM_020975.6(RET):c.1109T>A (p.Met370Lys)
|
rs886046987
|
|
NM_020975.6(RET):c.111G>A (p.Trp37Ter)
|
rs1564489315
|
|
NM_020975.6(RET):c.1154G>T (p.Gly385Val)
|
rs906695652
|
|
NM_020975.6(RET):c.1179C>A (p.Phe393Leu)
|
rs78098482
|
|
NM_020975.6(RET):c.1196C>T (p.Pro399Leu)
|
rs1554818362
|
|
NM_020975.6(RET):c.1230C>G (p.Leu410=)
|
rs995081128
|
|
NM_020975.6(RET):c.1253G>C (p.Arg418Pro)
|
rs371731991
|
|
NM_020975.6(RET):c.1264-10G>A
|
rs1837911590
|
|
NM_020975.6(RET):c.1264-5C>A
|
rs9282835
|
|
NM_020975.6(RET):c.1264-5C>G
|
rs9282835
|
|
NM_020975.6(RET):c.1280_1281del (p.Val427fs)
|
rs1564494285
|
|
NM_020975.6(RET):c.1300A>G (p.Ser434Gly)
|
rs794727875
|
|
NM_020975.6(RET):c.1303G>A (p.Gly435Ser)
|
|
|
NM_020975.6(RET):c.1311C>T (p.Asn437=)
|
rs1190189942
|
|
NM_020975.6(RET):c.1326G>T (p.Leu442=)
|
rs746055866
|
|
NM_020975.6(RET):c.1375G>A (p.Glu459Lys)
|
rs539995816
|
|
NM_020975.6(RET):c.1385C>T (p.Ser462Leu)
|
rs1313331250
|
|
NM_020975.6(RET):c.1412A>C (p.Lys471Thr)
|
rs2132771245
|
|
NM_020975.6(RET):c.1438G>T (p.Glu480Ter)
|
|
|
NM_020975.6(RET):c.1522+1G>A
|
|
|
NM_020975.6(RET):c.1523-7C>T
|
rs567967877
|
|
NM_020975.6(RET):c.1547C>G (p.Pro516Arg)
|
rs1194200337
|
|
NM_020975.6(RET):c.1567A>C (p.Lys523Gln)
|
rs766278774
|
|
NM_020975.6(RET):c.1573C>G (p.Arg525Gly)
|
rs545625150
|
|
NM_020975.6(RET):c.158T>C (p.Val53Ala)
|
|
|
NM_020975.6(RET):c.1592G>A (p.Cys531Tyr)
|
|
|
NM_020975.6(RET):c.1617C>A (p.Gly539=)
|
rs1554818648
|
|
NM_020975.6(RET):c.1633C>A (p.Gln545Lys)
|
rs890269439
|
|
NM_020975.6(RET):c.1648+14A>G
|
rs1356301733
|
|
NM_020975.6(RET):c.1648+5G>A
|
rs863224776
|
|
NM_020975.6(RET):c.1664T>G (p.Phe555Cys)
|
|
|
NM_020975.6(RET):c.1753T>C (p.Cys585Arg)
|
rs1588872865
|
|
NM_020975.6(RET):c.1783G>A (p.Glu595Lys)
|
rs1483605155
|
|
NM_020975.6(RET):c.1825T>C (p.Cys609Arg)
|
rs77558292
|
|
NM_020975.6(RET):c.1828A>C (p.Asn610His)
|
rs1837994023
|
|
NM_020975.6(RET):c.1829A>G (p.Asn610Ser)
|
rs1837994115
|
|
NM_020975.6(RET):c.1831T>C (p.Cys611Arg)
|
rs377767391
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)
|
rs77316810
|
|
NM_020975.6(RET):c.1858T>G (p.Cys620Gly)
|
rs77316810
|
|
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr)
|
rs77503355
|
|
NM_020975.6(RET):c.186G>A (p.Glu62=)
|
rs1588862529
|
|
NM_020975.6(RET):c.1879+1G>A
|
rs1588873476
|
|
NM_020975.6(RET):c.1880-2A>G
|
rs193922699
|
|
NM_020975.6(RET):c.1880-5C>A
|
rs1838016447
|
|
NM_020975.6(RET):c.1893C>A (p.Asp631Glu)
|
rs55846256
|
|
NM_020975.6(RET):c.191C>T (p.Pro64Leu)
|
rs77596424
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)
|
rs146646971
|
|
NM_020975.6(RET):c.199C>G (p.Arg67Gly)
|
rs749390385
|
|
NM_020975.6(RET):c.2003C>T (p.Pro668Leu)
|
rs1482522995
|
|
NM_020975.6(RET):c.2077C>T (p.Arg693Cys)
|
|
|
NM_020975.6(RET):c.2089C>T (p.Leu697=)
|
rs1588874416
|
|
NM_020975.6(RET):c.20G>A (p.Gly7Asp)
|
rs1366681125
|
|
NM_020975.6(RET):c.2128A>G (p.Lys710Glu)
|
rs3026760
|
|
NM_020975.6(RET):c.2135T>C (p.Leu712Pro)
|
rs760272063
|
|
NM_020975.6(RET):c.2136+2T>G
|
|
|
NM_020975.6(RET):c.2262G>A (p.Thr754=)
|
rs779080598
|
|
NM_020975.6(RET):c.2293T>C (p.Ser765Pro)
|
rs75075748
|
|
NM_020975.6(RET):c.2297C>T (p.Pro766Leu)
|
rs1017108031
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
NM_020975.6(RET):c.2393-14C>T
|
rs144269978
|
|
NM_020975.6(RET):c.2393-5C>T
|
rs1554819512
|
|
NM_020975.6(RET):c.2403C>T (p.Leu801=)
|
rs1554819519
|
|
NM_020975.6(RET):c.2420C>T (p.Ala807Val)
|
rs1554819523
|
|
NM_020975.6(RET):c.2433C>T (p.Ser811=)
|
rs1290818295
|
|
NM_020975.6(RET):c.2450G>A (p.Arg817His)
|
rs1345166214
|
|
NM_020975.6(RET):c.2454G>A (p.Glu818=)
|
rs794727131
|
|
NM_020975.6(RET):c.2480T>C (p.Leu827Pro)
|
rs2132945857
|
|
NM_020975.6(RET):c.2487T>C (p.Ser829=)
|
rs2132946081
|
|
NM_020975.6(RET):c.2515G>A (p.Asp839Asn)
|
|
|
NM_020975.6(RET):c.2523G>T (p.Pro841=)
|
rs56195026
|
|
NM_020975.6(RET):c.2530C>T (p.Arg844Trp)
|
rs377767424
|
|
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
|
rs55947360
|
|
NM_020975.6(RET):c.2535C>T (p.Ala845=)
|
rs377767425
|
|
NM_020975.6(RET):c.2566T>G (p.Trp856Gly)
|
rs1838163811
|
|
NM_020975.6(RET):c.2607+3G>C
|
rs752538741
|
|
NM_020975.6(RET):c.2617C>T (p.Arg873Trp)
|
|
|
NM_020975.6(RET):c.2623T>G (p.Leu875Val)
|
rs1588877642
|
|
NM_020975.6(RET):c.2629G>C (p.Ala877Pro)
|
rs1838178869
|
|
NM_020975.6(RET):c.2690G>A (p.Arg897Gln)
|
rs76087194
|
|
NM_020975.6(RET):c.2693A>T (p.Asp898Val)
|
|
|
NM_020975.6(RET):c.2700T>C (p.Tyr900=)
|
rs1185622721
|
|
NM_020975.6(RET):c.2710T>G (p.Ser904Ala)
|
rs1588877711
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_020975.6(RET):c.2771T>A (p.Phe924Tyr)
|
rs1838228352
|
|
NM_020975.6(RET):c.2865dup (p.Pro956fs)
|
rs1564500612
|
|
NM_020975.6(RET):c.2914A>G (p.Arg972Gly)
|
rs76534745
|
|
NM_020975.6(RET):c.2985G>A (p.Arg995=)
|
rs1252674267
|
|
NM_020975.6(RET):c.3004A>G (p.Ser1002Gly)
|
|
|
NM_020975.6(RET):c.3022A>T (p.Met1008Leu)
|
rs1554820077
|
|
NM_020975.6(RET):c.3031A>G (p.Lys1011Glu)
|
rs368345402
|
|
NM_020975.6(RET):c.3137C>A (p.Ala1046Asp)
|
rs945693739
|
|
NM_020975.6(RET):c.3143del (p.Leu1048fs)
|
rs1564501934
|
|
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro)
|
rs536486113
|
|
NM_020975.6(RET):c.31C>T (p.Leu11=)
|
rs587780812
|
|
NM_020975.6(RET):c.3278A>G (p.Asp1093Gly)
|
rs1564502609
|
|
NM_020975.6(RET):c.338-7T>G
|
|
|
NM_020975.6(RET):c.406G>T (p.Glu136Ter)
|
rs79014735
|
|
NM_020975.6(RET):c.440T>C (p.Phe147Ser)
|
rs1564490097
|
|
NM_020975.6(RET):c.443C>T (p.Ser148Phe)
|
rs1837660663
|
|
NM_020975.6(RET):c.445TTC[1] (p.Phe150del)
|
rs776989694
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.452A>T (p.Asn151Ile)
|
rs150261092
|
|
NM_020975.6(RET):c.47T>A (p.Leu16Gln)
|
rs1564480893
|
|
NM_020975.6(RET):c.484C>T (p.Pro162Ser)
|
rs1564490122
|
|
NM_020975.6(RET):c.487C>A (p.Arg163=)
|
rs371153966
|
|
NM_020975.6(RET):c.538C>T (p.Arg180Ter)
|
rs76449634
|
|
NM_020975.6(RET):c.564C>A (p.Phe188Leu)
|
|
|
NM_020975.6(RET):c.565C>T (p.Arg189Cys)
|
rs1210452561
|
|
NM_020975.6(RET):c.566G>A (p.Arg189His)
|
rs753707182
|
|
NM_020975.6(RET):c.577G>T (p.Val193Leu)
|
rs1008123818
|
|
NM_020975.6(RET):c.592C>T (p.Pro198Ser)
|
rs76736111
|
|
NM_020975.6(RET):c.596A>G (p.Asn199Ser)
|
rs886046986
|
|
NM_020975.6(RET):c.604G>C (p.Val202Leu)
|
rs751572082
|
|
NM_020975.6(RET):c.650C>A (p.Ala217Asp)
|
rs1060500754
|
|
NM_020975.6(RET):c.657C>G (p.Asp219Glu)
|
rs1837729196
|
|
NM_020975.6(RET):c.692G>A (p.Arg231His)
|
rs79661516
|
|
NM_020975.6(RET):c.712G>C (p.Glu238Gln)
|
|
|
NM_020975.6(RET):c.712G>T (p.Glu238Ter)
|
rs1588866040
|
|
NM_020975.6(RET):c.737A>T (p.His246Leu)
|
|
|
NM_020975.6(RET):c.757G>A (p.Val253Met)
|
rs587780816
|
|
NM_020975.6(RET):c.796G>A (p.Asp266Asn)
|
rs1554817823
|
|
NM_020975.6(RET):c.810C>A (p.Pro270=)
|
rs1160403666
|
|
NM_020975.6(RET):c.826G>T (p.Val276Phe)
|
rs139213499
|
|
NM_020975.6(RET):c.847G>C (p.Val283Leu)
|
|
|
NM_020975.6(RET):c.860G>A (p.Arg287Gln)
|
rs1564491460
|
|
NM_020975.6(RET):c.860G>T (p.Arg287Leu)
|
rs1564491460
|
|
NM_020975.6(RET):c.867+4C>G
|
rs1837741280
|
|
NM_020975.6(RET):c.868-18G>T
|
rs57098408
|
|
NM_020975.6(RET):c.889C>T (p.Arg297Cys)
|
|
|
NM_020975.6(RET):c.898G>A (p.Asp300Asn)
|
rs2132719351
|
|
NM_020975.6(RET):c.920C>T (p.Ser307Leu)
|
rs1554817979
|
|
NM_020975.6(RET):c.921A>G (p.Ser307=)
|
rs748294306
|
|
NM_020975.6(RET):c.950C>T (p.Thr317Met)
|
rs760322514
|
|
NM_020975.6(RET):c.95C>T (p.Ser32Leu)
|
rs76764689
|
|
NM_020975.6(RET):c.960C>A (p.Pro320=)
|
rs756761746
|
|
NM_020975.6(RET):c.960C>T (p.Pro320=)
|
rs756761746
|
|
NM_020975.6(RET):c.983C>T (p.Thr328Ile)
|
|
|
NM_020975.6(RET):c.989G>A (p.Arg330Gln)
|
rs80236571
|
|
NM_031200.3(CCR9):c.3G>T (p.Met1Ile)
|
rs1553617019
|
|
NM_032177.4(PHAX):c.379C>T (p.Gln127Ter)
|
rs1581415304
|
|
NM_032634.4(PIGO):c.449G>T (p.Gly150Val)
|
rs1587176408
|
|
NM_207034.3(EDN3):c.*1111G>A
|
rs886056888
|
|
NM_207034.3(EDN3):c.*1123G>A
|
rs376536945
|
|
NM_207034.3(EDN3):c.*1176C>T
|
rs1990796585
|
|
NM_207034.3(EDN3):c.*1271A>G
|
rs886056889
|
|
NM_207034.3(EDN3):c.*1293T>C
|
rs536369470
|
|
NM_207034.3(EDN3):c.*143C>A
|
rs71321536
|
|
NM_207034.3(EDN3):c.*143C>G
|
rs71321536
|
|
NM_207034.3(EDN3):c.*143C>T
|
rs71321536
|
|
NM_207034.3(EDN3):c.*144C>A
|
rs886056880
|
|
NM_207034.3(EDN3):c.*144C>T
|
rs886056880
|
|
NM_207034.3(EDN3):c.*145C>A
|
rs886056881
|
|
NM_207034.3(EDN3):c.*146C>T
|
rs11570352
|
|
NM_207034.3(EDN3):c.*147C>G
|
rs576673862
|
|
NM_207034.3(EDN3):c.*147C>T
|
rs576673862
|
|
NM_207034.3(EDN3):c.*149C>A
|
rs565501608
|
|
NM_207034.3(EDN3):c.*571A>G
|
rs886056882
|
|
NM_207034.3(EDN3):c.*716C>G
|
rs531531144
|
|
NM_207034.3(EDN3):c.*96G>A
|
rs886056875
|
|
NM_207034.3(EDN3):c.-115G>A
|
rs1413431743
|
|
NM_207034.3(EDN3):c.257A>G (p.Glu86Gly)
|
rs761348961
|
|
NM_207034.3(EDN3):c.262dup (p.Ala88fs)
|
rs1568823467
|
|
NM_207034.3(EDN3):c.377C>G (p.Pro126Arg)
|
|
|
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr)
|
rs11570255
|
|
NM_207034.3(EDN3):c.565dup (p.Thr189fs)
|
rs11570344
|
|
NM_207034.3(EDN3):c.623T>C (p.Leu208Ser)
|
rs1306262526
|
|
NM_207034.3(EDN3):c.689G>A (p.Arg230His)
|
rs144250756
|
|
RET, 1-BP DEL, G1120
|
|
|