NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00433
|
NM_006158.5(NEFL):c.584C>T (p.Ala195Val)
|
rs185200977
|
0.00274
|
NM_021625.5(TRPV4):c.712+10C>T
|
rs115657305
|
0.00255
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe)
|
rs2228205
|
0.00220
|
NM_004990.4(MARS1):c.680C>T (p.Thr227Ile)
|
rs73344082
|
0.00186
|
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg)
|
rs147319762
|
0.00180
|
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser)
|
rs35610053
|
0.00168
|
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)
|
rs2228208
|
0.00157
|
NM_015271.5(TRIM2):c.122G>A (p.Arg41His)
|
rs146705057
|
0.00155
|
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu)
|
rs147674615
|
0.00144
|
NM_001605.3(AARS1):c.700C>T (p.Pro234Ser)
|
rs141840552
|
0.00137
|
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn)
|
rs117692127
|
0.00133
|
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val)
|
rs140221316
|
0.00124
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00121
|
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile)
|
rs148171058
|
0.00121
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00116
|
NM_030973.4(MED25):c.354C>T (p.Leu118=)
|
rs145574885
|
0.00110
|
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln)
|
rs149824485
|
0.00108
|
NM_001005373.4(LRSAM1):c.469A>G (p.Ile157Val)
|
rs150292099
|
0.00105
|
NM_030973.4(MED25):c.151C>T (p.Pro51Ser)
|
rs147869920
|
0.00104
|
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile)
|
rs143421325
|
0.00103
|
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu)
|
rs35058636
|
0.00096
|
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=)
|
rs147954772
|
0.00088
|
NM_006158.5(NEFL):c.1402G>A (p.Asp468Asn)
|
rs57153321
|
0.00088
|
NM_014874.4(MFN2):c.1452G>A (p.Thr484=)
|
rs150043585
|
0.00086
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00084
|
NM_001303256.3(MORC2):c.1768C>T (p.Leu590=)
|
rs146972491
|
0.00078
|
NM_000263.4(NAGLU):c.1346G>A (p.Ser449Asn)
|
rs114605439
|
0.00077
|
NM_002180.3(IGHMBP2):c.1060+8G>T
|
rs201147313
|
0.00076
|
NM_030973.4(MED25):c.638T>C (p.Val213Ala)
|
rs144892223
|
0.00076
|
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser)
|
rs60662302
|
0.00076
|
NM_004990.4(MARS1):c.2491G>A (p.Val831Ile)
|
rs199773459
|
0.00075
|
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp)
|
rs138081804
|
0.00072
|
NM_014365.3(HSPB8):c.499G>A (p.Glu167Lys)
|
rs148514935
|
0.00071
|
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=)
|
rs149988106
|
0.00071
|
NM_004990.4(MARS1):c.2671C>T (p.Pro891Ser)
|
rs35843015
|
0.00070
|
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly)
|
rs148095551
|
0.00065
|
NM_006158.5(NEFL):c.639C>G (p.Ile213Met)
|
rs62636522
|
0.00065
|
NM_001005373.4(LRSAM1):c.406+15G>T
|
rs201808404
|
0.00064
|
NM_001005373.4(LRSAM1):c.814C>T (p.Arg272Trp)
|
rs149456922
|
0.00063
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00062
|
NM_004990.4(MARS1):c.1447C>T (p.Arg483Cys)
|
rs143007366
|
0.00062
|
NM_001303256.3(MORC2):c.2044G>A (p.Val682Ile)
|
rs144493873
|
0.00061
|
NM_004990.4(MARS1):c.663+11G>A
|
rs76150936
|
0.00061
|
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=)
|
rs140654955
|
0.00060
|
NM_004990.4(MARS1):c.1636-9T>C
|
rs373186969
|
0.00059
|
NM_001376.5(DYNC1H1):c.5294C>T (p.Ala1765Val)
|
rs150687712
|
0.00058
|
NM_014365.3(HSPB8):c.233G>T (p.Arg78Met)
|
rs55826713
|
0.00058
|
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg)
|
rs144851946
|
0.00057
|
NM_001605.3(AARS1):c.600C>T (p.Ala200=)
|
rs150080663
|
0.00056
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00055
|
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg)
|
rs377121179
|
0.00055
|
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=)
|
rs138490175
|
0.00054
|
NM_014874.4(MFN2):c.756C>T (p.Asn252=)
|
rs137960129
|
0.00053
|
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val)
|
rs56217500
|
0.00051
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00050
|
NM_001540.5(HSPB1):c.240A>G (p.Gln80=)
|
rs377246178
|
0.00050
|
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu)
|
rs141594765
|
0.00050
|
NM_001376.5(DYNC1H1):c.1173A>G (p.Gln391=)
|
rs17540735
|
0.00049
|
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met)
|
rs143986510
|
0.00049
|
NM_170707.4(LMNA):c.789G>A (p.Leu263=)
|
rs148557956
|
0.00048
|
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu)
|
rs144245125
|
0.00047
|
NM_030973.4(MED25):c.689-3C>T
|
rs199623358
|
0.00047
|
NM_001365951.3(KIF1B):c.4925G>A (p.Arg1642Lys)
|
rs190124441
|
0.00046
|
NM_021625.5(TRPV4):c.898A>G (p.Ile300Val)
|
rs114612488
|
0.00046
|
NM_030973.4(MED25):c.664C>T (p.Leu222=)
|
rs147538736
|
0.00046
|
NM_001005373.4(LRSAM1):c.586G>A (p.Gly196Ser)
|
rs148059394
|
0.00045
|
NM_001605.3(AARS1):c.2178-14G>A
|
rs371633904
|
0.00045
|
NM_001376.5(DYNC1H1):c.10908+10G>A
|
rs201277756
|
0.00044
|
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His)
|
rs201692151
|
0.00044
|
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)
|
rs140676897
|
0.00043
|
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu)
|
rs115861965
|
0.00043
|
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met)
|
rs139572764
|
0.00042
|
NM_001376.5(DYNC1H1):c.13181C>T (p.Thr4394Met)
|
rs149300055
|
0.00042
|
NM_001540.5(HSPB1):c.438C>T (p.Pro146=)
|
rs7805625
|
0.00042
|
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg)
|
rs149577588
|
0.00041
|
NM_004990.4(MARS1):c.1293+16C>A
|
rs200792020
|
0.00041
|
NM_004990.4(MARS1):c.42G>T (p.Pro14=)
|
rs144002827
|
0.00041
|
NM_004990.4(MARS1):c.792G>A (p.Arg264=)
|
rs141609469
|
0.00041
|
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met)
|
rs570675468
|
0.00041
|
NM_021625.5(TRPV4):c.1491+10C>T
|
rs201815805
|
0.00041
|
NM_001122955.4(BSCL2):c.1102C>A (p.Gln368Lys)
|
rs149990643
|
0.00040
|
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile)
|
rs121908162
|
0.00040
|
NM_001605.3(AARS1):c.2722-16C>T
|
rs373540049
|
0.00040
|
NM_002047.4(GARS1):c.428-17C>T
|
rs370452042
|
0.00040
|
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp)
|
rs144681826
|
0.00040
|
NM_004990.4(MARS1):c.2204+10C>T
|
rs376636502
|
0.00039
|
NM_001005373.4(LRSAM1):c.1225C>G (p.Gln409Glu)
|
rs149540339
|
0.00038
|
NM_015271.5(TRIM2):c.1671G>T (p.Pro557=)
|
rs150231451
|
0.00038
|
NM_001005373.4(LRSAM1):c.917T>G (p.Leu306Arg)
|
rs140151379
|
0.00037
|
NM_001365951.3(KIF1B):c.2827G>A (p.Ala943Thr)
|
rs142567076
|
0.00037
|
NM_002047.4(GARS1):c.1032-15C>T
|
rs201868189
|
0.00037
|
NM_030973.4(MED25):c.135-6T>G
|
rs199743509
|
0.00037
|
NM_002047.4(GARS1):c.1904-18T>C
|
rs41275991
|
0.00036
|
NM_015271.5(TRIM2):c.1116C>T (p.Ser372=)
|
rs139093547
|
0.00036
|
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val)
|
rs115976458
|
0.00036
|
NM_001005373.4(LRSAM1):c.2111G>A (p.Arg704His)
|
rs140808447
|
0.00035
|
NM_001365951.3(KIF1B):c.4356A>G (p.Thr1452=)
|
rs150358670
|
0.00035
|
NM_004990.4(MARS1):c.915C>T (p.Thr305=)
|
rs199641659
|
0.00035
|
NM_001376.5(DYNC1H1):c.11596-7G>A
|
rs375593873
|
0.00034
|
NM_001376.5(DYNC1H1):c.5239-13C>A
|
rs373351097
|
0.00034
|
NM_001605.3(AARS1):c.966T>C (p.Tyr322=)
|
rs145859060
|
0.00034
|
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu)
|
rs61731907
|
0.00034
|
NM_030973.4(MED25):c.1231-8C>T
|
rs200594031
|
0.00034
|
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg)
|
rs151018278
|
0.00032
|
NM_001365951.3(KIF1B):c.2663A>G (p.Lys888Arg)
|
rs147600470
|
0.00032
|
NM_001005373.4(LRSAM1):c.1406G>A (p.Arg469Gln)
|
rs369439346
|
0.00031
|
NM_001365951.3(KIF1B):c.2604C>T (p.Asp868=)
|
rs145846362
|
0.00031
|
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=)
|
rs149753029
|
0.00031
|
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp)
|
rs138327042
|
0.00031
|
NM_001005373.4(LRSAM1):c.252+16C>G
|
rs367844312
|
0.00030
|
NM_001605.3(AARS1):c.2222C>T (p.Thr741Met)
|
rs148383122
|
0.00030
|
NM_001605.3(AARS1):c.430G>A (p.Ala144Thr)
|
rs147187788
|
0.00030
|
NM_001605.3(AARS1):c.480-9C>T
|
rs376371821
|
0.00030
|
NM_002047.4(GARS1):c.675G>A (p.Leu225=)
|
rs369203473
|
0.00030
|
NM_004990.4(MARS1):c.1754-4C>A
|
rs377361080
|
0.00030
|
NM_006158.5(NEFL):c.207G>A (p.Glu69=)
|
rs367732440
|
0.00030
|
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
|
rs146715254
|
0.00029
|
NM_001376.5(DYNC1H1):c.4296C>G (p.Gly1432=)
|
rs150374820
|
0.00029
|
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=)
|
rs140296831
|
0.00029
|
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=)
|
rs146841400
|
0.00029
|
NM_001005361.3(DNM2):c.645C>T (p.Asp215=)
|
rs148900299
|
0.00028
|
NM_001005373.4(LRSAM1):c.1950G>A (p.Thr650=)
|
rs199887448
|
0.00028
|
NM_002047.4(GARS1):c.253A>G (p.Lys85Glu)
|
rs200294578
|
0.00028
|
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg)
|
rs146266992
|
0.00028
|
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=)
|
rs147409148
|
0.00028
|
NM_170707.4(LMNA):c.192C>T (p.Thr64=)
|
rs137969290
|
0.00028
|
NM_001376.5(DYNC1H1):c.12513+17C>T
|
rs368189529
|
0.00027
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00027
|
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp)
|
rs373943338
|
0.00027
|
NM_000263.4(NAGLU):c.764+10C>T
|
rs372400832
|
0.00026
|
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys)
|
rs141525226
|
0.00026
|
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln)
|
rs147038490
|
0.00026
|
NM_021625.5(TRPV4):c.501C>T (p.Asp167=)
|
rs77680510
|
0.00026
|
NM_001365951.3(KIF1B):c.3636G>A (p.Pro1212=)
|
rs140229905
|
0.00025
|
NM_004990.4(MARS1):c.369C>T (p.His123=)
|
rs145292793
|
0.00025
|
NM_004990.4(MARS1):c.415-5C>A
|
rs747351446
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=)
|
rs373990000
|
0.00024
|
NM_001365951.3(KIF1B):c.3798-17G>A
|
rs369489193
|
0.00024
|
NM_001540.5(HSPB1):c.531C>T (p.Asn177=)
|
rs754873919
|
0.00024
|
NM_014874.4(MFN2):c.1101G>C (p.Gln367His)
|
rs373211062
|
0.00024
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00023
|
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=)
|
rs138532996
|
0.00023
|
NM_001303256.3(MORC2):c.78C>T (p.His26=)
|
rs562260543
|
0.00023
|
NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)
|
rs145266399
|
0.00023
|
NM_001376.5(DYNC1H1):c.2977G>A (p.Val993Ile)
|
rs1332902634
|
0.00023
|
NM_001376.5(DYNC1H1):c.9171G>A (p.Gln3057=)
|
rs201041097
|
0.00023
|
NM_002047.4(GARS1):c.669G>A (p.Gln223=)
|
rs1051323034
|
0.00023
|
NM_030973.4(MED25):c.275A>T (p.Tyr92Phe)
|
rs549136898
|
0.00023
|
NM_001005361.3(DNM2):c.1546-16C>T
|
rs375554484
|
0.00022
|
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala)
|
rs200561798
|
0.00022
|
NM_001376.5(DYNC1H1):c.8638-7T>C
|
rs201446705
|
0.00022
|
NM_001540.5(HSPB1):c.24C>T (p.Phe8=)
|
rs201769668
|
0.00022
|
NM_001605.3(AARS1):c.2217C>T (p.Ile739=)
|
rs770980206
|
0.00022
|
NM_002047.4(GARS1):c.302G>A (p.Arg101His)
|
rs200887429
|
0.00022
|
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu)
|
rs141903179
|
0.00022
|
NM_021625.5(TRPV4):c.1584+12G>T
|
rs375908611
|
0.00022
|
NM_030973.4(MED25):c.134+20C>T
|
rs372600662
|
0.00022
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_001303256.3(MORC2):c.1754G>A (p.Arg585His)
|
rs137983239
|
0.00021
|
NM_001376.5(DYNC1H1):c.11862C>T (p.Asp3954=)
|
rs140543419
|
0.00021
|
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=)
|
rs375767483
|
0.00021
|
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=)
|
rs192959810
|
0.00021
|
NM_001376.5(DYNC1H1):c.4075-6C>T
|
rs377411812
|
0.00021
|
NM_001605.3(AARS1):c.1839C>T (p.Phe613=)
|
rs141374386
|
0.00021
|
NM_002047.4(GARS1):c.1100A>G (p.Asn367Ser)
|
rs192443850
|
0.00021
|
NM_002047.4(GARS1):c.408A>G (p.Gln136=)
|
rs200279483
|
0.00021
|
NM_004990.4(MARS1):c.1149T>C (p.Thr383=)
|
rs139772690
|
0.00021
|
NM_015271.5(TRIM2):c.816C>T (p.Leu272=)
|
rs149607572
|
0.00021
|
NM_001005361.3(DNM2):c.1893+18G>A
|
rs368748557
|
0.00020
|
NM_001303256.3(MORC2):c.1370-17C>T
|
rs200368726
|
0.00020
|
NM_001303256.3(MORC2):c.3063C>T (p.Asp1021=)
|
rs138812699
|
0.00020
|
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile)
|
rs200731839
|
0.00020
|
NM_001376.5(DYNC1H1):c.8178-18G>A
|
rs566418221
|
0.00020
|
NM_001605.3(AARS1):c.2275G>A (p.Glu759Lys)
|
rs137894161
|
0.00020
|
NM_001605.3(AARS1):c.2520+19A>G
|
rs376619331
|
0.00020
|
NM_004990.4(MARS1):c.414+9G>C
|
rs375026310
|
0.00020
|
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp)
|
rs34227547
|
0.00020
|
NM_021625.5(TRPV4):c.1421A>G (p.Asn474Ser)
|
rs150461804
|
0.00020
|
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met)
|
rs138695961
|
0.00019
|
NM_000263.4(NAGLU):c.1617C>T (p.Ala539=)
|
rs149875730
|
0.00019
|
NM_001005373.4(LRSAM1):c.570G>A (p.Arg190=)
|
rs545814024
|
0.00019
|
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=)
|
rs140208002
|
0.00019
|
NM_001365951.3(KIF1B):c.1014C>T (p.Tyr338=)
|
rs150411706
|
0.00019
|
NM_001365951.3(KIF1B):c.106+10T>A
|
rs368714043
|
0.00019
|
NM_001376.5(DYNC1H1):c.261C>T (p.Asp87=)
|
rs75113705
|
0.00019
|
NM_001376.5(DYNC1H1):c.4176T>C (p.Gly1392=)
|
rs112261870
|
0.00019
|
NM_001376.5(DYNC1H1):c.9093G>A (p.Thr3031=)
|
rs145208135
|
0.00019
|
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro)
|
rs367662394
|
0.00019
|
NM_001605.3(AARS1):c.1493-7T>C
|
rs376087556
|
0.00019
|
NM_001605.3(AARS1):c.2817G>A (p.Gln939=)
|
rs140048586
|
0.00019
|
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His)
|
rs201640213
|
0.00019
|
NM_006158.5(NEFL):c.360C>T (p.Ala120=)
|
rs368829273
|
0.00019
|
NM_021625.5(TRPV4):c.2209-5C>T
|
rs374184761
|
0.00019
|
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=)
|
rs139580010
|
0.00019
|
NM_030973.4(MED25):c.1002C>T (p.Gly334=)
|
rs142842628
|
0.00019
|
NM_001365951.3(KIF1B):c.2985C>T (p.Ile995=)
|
rs150904940
|
0.00018
|
NM_001365951.3(KIF1B):c.4753-9C>T
|
rs375366137
|
0.00018
|
NM_001376.5(DYNC1H1):c.12795C>T (p.Leu4265=)
|
rs371160908
|
0.00018
|
NM_001605.3(AARS1):c.1019A>G (p.Asn340Ser)
|
rs140135726
|
0.00018
|
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=)
|
rs370850999
|
0.00018
|
NM_014874.4(MFN2):c.175+9G>A
|
rs373340717
|
0.00018
|
NM_015271.5(TRIM2):c.969C>T (p.Asn323=)
|
rs116365246
|
0.00018
|
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564
|
0.00017
|
NM_001005361.3(DNM2):c.480C>T (p.Ile160=)
|
rs140036663
|
0.00017
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00017
|
NM_001005373.4(LRSAM1):c.1515G>A (p.Ser505=)
|
rs140066362
|
0.00017
|
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His)
|
rs149466797
|
0.00017
|
NM_001303256.3(MORC2):c.905-10T>G
|
rs372985596
|
0.00017
|
NM_001365951.3(KIF1B):c.3688+15C>T
|
rs374936352
|
0.00017
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322
|
0.00017
|
NM_001376.5(DYNC1H1):c.12214+20T>C
|
rs200763934
|
0.00017
|
NM_001376.5(DYNC1H1):c.12400-13C>T
|
rs201722021
|
0.00017
|
NM_001376.5(DYNC1H1):c.256+13G>C
|
rs376513039
|
0.00017
|
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=)
|
rs112811548
|
0.00017
|
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=)
|
rs117846737
|
0.00017
|
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=)
|
rs139065967
|
0.00017
|
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys)
|
rs192806153
|
0.00017
|
NM_014874.4(MFN2):c.2157G>A (p.Lys719=)
|
rs148441213
|
0.00017
|
NM_014874.4(MFN2):c.444C>T (p.Thr148=)
|
rs373038884
|
0.00017
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042
|
0.00016
|
NM_000263.4(NAGLU):c.678+4A>G
|
rs368199655
|
0.00016
|
NM_001303256.3(MORC2):c.774T>C (p.His258=)
|
rs747931761
|
0.00016
|
NM_001365951.3(KIF1B):c.4855C>G (p.Pro1619Ala)
|
rs146177892
|
0.00016
|
NM_001365951.3(KIF1B):c.608+14T>G
|
rs151026584
|
0.00016
|
NM_001376.5(DYNC1H1):c.8502A>G (p.Gln2834=)
|
rs146220233
|
0.00016
|
NM_001605.3(AARS1):c.480-8T>C
|
rs751472610
|
0.00016
|
NM_002180.3(IGHMBP2):c.87-11G>C
|
rs371158900
|
0.00016
|
NM_004990.4(MARS1):c.1369-7A>C
|
rs377050640
|
0.00016
|
NM_014874.4(MFN2):c.2069+16G>A
|
rs376673392
|
0.00016
|
NM_014874.4(MFN2):c.971-16A>G
|
rs374822911
|
0.00016
|
NM_021625.5(TRPV4):c.1658+15C>T
|
rs200083069
|
0.00016
|
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=)
|
rs369752162
|
0.00016
|
NM_170707.4(LMNA):c.1656C>T (p.Asp552=)
|
rs370219874
|
0.00016
|
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn)
|
rs373671419
|
0.00016
|
NM_170707.4(LMNA):c.895A>G (p.Ile299Val)
|
rs150924946
|
0.00016
|
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028
|
0.00015
|
NM_000263.4(NAGLU):c.288C>T (p.Phe96=)
|
rs755082293
|
0.00015
|
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192
|
0.00015
|
NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
|
rs147579870
|
0.00015
|
NM_001005373.4(LRSAM1):c.1601C>T (p.Thr534Met)
|
rs141542114
|
0.00015
|
NM_001303256.3(MORC2):c.2194-17C>T
|
rs370934410
|
0.00015
|
NM_001303256.3(MORC2):c.2711A>G (p.Asn904Ser)
|
rs1042426757
|
0.00015
|
NM_001365951.3(KIF1B):c.184-6T>G
|
rs761723354
|
0.00015
|
NM_001365951.3(KIF1B):c.429+7A>G
|
rs370895789
|
0.00015
|
NM_001365951.3(KIF1B):c.4524C>T (p.Thr1508=)
|
rs373636782
|
0.00015
|
NM_001376.5(DYNC1H1):c.12102+6G>A
|
rs377669980
|
0.00015
|
NM_001376.5(DYNC1H1):c.13385G>A (p.Arg4462Gln)
|
rs376608392
|
0.00015
|
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=)
|
rs140154194
|
0.00015
|
NM_001376.5(DYNC1H1):c.2670G>T (p.Leu890=)
|
rs142961295
|
0.00015
|
NM_001376.5(DYNC1H1):c.3156+5G>A
|
rs200905961
|
0.00015
|
NM_001376.5(DYNC1H1):c.369C>T (p.Pro123=)
|
rs372944247
|
0.00015
|
NM_001605.3(AARS1):c.2521-10T>C
|
rs199521984
|
0.00015
|
NM_002047.4(GARS1):c.270C>T (p.Asp90=)
|
rs369898799
|
0.00015
|
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe)
|
rs149045005
|
0.00015
|
NM_002180.3(IGHMBP2):c.257-11T>C
|
rs372835712
|
0.00015
|
NM_002180.3(IGHMBP2):c.2612-16C>T
|
rs200337900
|
0.00015
|
NM_014874.4(MFN2):c.1463A>G (p.Asn488Ser)
|
rs147785658
|
0.00015
|
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=)
|
rs139179261
|
0.00015
|
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)
|
rs779715512
|
0.00015
|
NM_030973.4(MED25):c.1095G>A (p.Pro365=)
|
rs373128874
|
0.00015
|
NM_030973.4(MED25):c.306-10del
|
rs772259172
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00014
|
NM_001005361.3(DNM2):c.839C>T (p.Thr280Met)
|
rs202155679
|
0.00014
|
NM_001005361.3(DNM2):c.957C>T (p.Pro319=)
|
rs141911457
|
0.00014
|
NM_001005373.4(LRSAM1):c.619+13C>T
|
rs148704769
|
0.00014
|
NM_001303256.3(MORC2):c.3015G>C (p.Leu1005=)
|
rs765411579
|
0.00014
|
NM_001365951.3(KIF1B):c.4338A>G (p.Leu1446=)
|
rs143112560
|
0.00014
|
NM_001365951.3(KIF1B):c.4946+10C>T
|
rs374982816
|
0.00014
|
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=)
|
rs140033479
|
0.00014
|
NM_002047.4(GARS1):c.1743G>C (p.Leu581=)
|
rs370844461
|
0.00014
|
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=)
|
rs745534850
|
0.00014
|
NM_014874.4(MFN2):c.1287+13G>C
|
rs543940912
|
0.00014
|
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser)
|
rs147136530
|
0.00014
|
NM_014874.4(MFN2):c.870C>T (p.Gly290=)
|
rs368302487
|
0.00014
|
NM_015271.5(TRIM2):c.117G>C (p.Val39=)
|
rs1320145259
|
0.00014
|
NM_015271.5(TRIM2):c.1296G>T (p.Leu432=)
|
rs1019168141
|
0.00014
|
NM_021625.5(TRPV4):c.732C>T (p.Ile244=)
|
rs142647385
|
0.00014
|
NM_030973.4(MED25):c.1747-19_1747-18del
|
rs752695799
|
0.00014
|
NM_000263.4(NAGLU):c.2124C>T (p.Phe708=)
|
rs139195906
|
0.00013
|
NM_001005361.3(DNM2):c.1423-12G>A
|
rs376753915
|
0.00013
|
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr)
|
rs144763522
|
0.00013
|
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=)
|
rs371412466
|
0.00013
|
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=)
|
rs200782592
|
0.00013
|
NM_001005361.3(DNM2):c.822G>A (p.Thr274=)
|
rs201763720
|
0.00013
|
NM_001122955.4(BSCL2):c.1234+7G>A
|
rs200631909
|
0.00013
|
NM_001365951.3(KIF1B):c.4526G>A (p.Arg1509His)
|
rs201477179
|
0.00013
|
NM_001376.5(DYNC1H1):c.12075C>T (p.Leu4025=)
|
rs373636519
|
0.00013
|
NM_001376.5(DYNC1H1):c.12103-15C>T
|
rs373801313
|
0.00013
|
NM_001376.5(DYNC1H1):c.12685-3C>T
|
rs149824412
|
0.00013
|
NM_001376.5(DYNC1H1):c.13373-19C>G
|
rs371960630
|
0.00013
|
NM_001605.3(AARS1):c.128A>G (p.Asn43Ser)
|
rs748803390
|
0.00013
|
NM_001605.3(AARS1):c.2192C>T (p.Ser731Leu)
|
rs150873930
|
0.00013
|
NM_001605.3(AARS1):c.2287-16C>T
|
rs375747367
|
0.00013
|
NM_001605.3(AARS1):c.385C>G (p.Pro129Ala)
|
rs370622071
|
0.00013
|
NM_001605.3(AARS1):c.480-17C>T
|
rs372467445
|
0.00013
|
NM_002047.4(GARS1):c.1543G>A (p.Val515Met)
|
rs367589841
|
0.00013
|
NM_002047.4(GARS1):c.301C>T (p.Arg101Cys)
|
rs746056671
|
0.00013
|
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu)
|
rs374632016
|
0.00013
|
NM_014874.4(MFN2):c.1476C>A (p.Thr492=)
|
rs143428548
|
0.00013
|
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe)
|
rs202066574
|
0.00013
|
NM_021625.5(TRPV4):c.386+10G>A
|
rs373979504
|
0.00013
|
NM_030973.4(MED25):c.305+17T>G
|
rs763308680
|
0.00013
|
NM_170707.4(LMNA):c.1488+14C>T
|
rs377700689
|
0.00013
|
NM_000263.4(NAGLU):c.282C>T (p.Arg94=)
|
rs866267579
|
0.00012
|
NM_001005361.3(DNM2):c.1422+9C>T
|
rs199952853
|
0.00012
|
NM_001303256.3(MORC2):c.2705G>C (p.Ser902Thr)
|
rs141633101
|
0.00012
|
NM_001303256.3(MORC2):c.2724C>T (p.Ile908=)
|
rs147997704
|
0.00012
|
NM_001365951.3(KIF1B):c.1434+9T>C
|
rs770024434
|
0.00012
|
NM_001376.5(DYNC1H1):c.12333G>A (p.Lys4111=)
|
rs373520665
|
0.00012
|
NM_001376.5(DYNC1H1):c.12834C>T (p.Phe4278=)
|
rs201126154
|
0.00012
|
NM_001376.5(DYNC1H1):c.13230C>T (p.Phe4410=)
|
rs374578144
|
0.00012
|
NM_001376.5(DYNC1H1):c.13349C>T (p.Thr4450Met)
|
rs146087540
|
0.00012
|
NM_001376.5(DYNC1H1):c.2875G>A (p.Val959Ile)
|
rs140141126
|
0.00012
|
NM_001376.5(DYNC1H1):c.7071G>A (p.Ser2357=)
|
rs375808105
|
0.00012
|
NM_001376.5(DYNC1H1):c.8551G>A (p.Asp2851Asn)
|
rs780522040
|
0.00012
|
NM_001605.3(AARS1):c.1671+10C>T
|
rs184240527
|
0.00012
|
NM_001605.3(AARS1):c.962+12G>C
|
rs376863001
|
0.00012
|
NM_002180.3(IGHMBP2):c.712-10C>T
|
rs750936839
|
0.00012
|
NM_004637.6(RAB7A):c.528+20C>T
|
rs369178220
|
0.00012
|
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr)
|
rs141340466
|
0.00012
|
NM_004990.4(MARS1):c.888-14A>G
|
rs770588360
|
0.00012
|
NM_006158.5(NEFL):c.423G>A (p.Gln141=)
|
rs59161567
|
0.00012
|
NM_015271.5(TRIM2):c.927C>T (p.Asn309=)
|
rs142242737
|
0.00012
|
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=)
|
rs146929022
|
0.00012
|
NM_030973.4(MED25):c.1533C>T (p.Leu511=)
|
rs376038328
|
0.00012
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00012
|
NM_170707.4(LMNA):c.811-12C>T
|
rs372962650
|
0.00012
|
NM_170707.4(LMNA):c.990G>A (p.Glu330=)
|
rs140800215
|
0.00012
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001005361.3(DNM2):c.315C>T (p.Thr105=)
|
rs111837150
|
0.00011
|
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459
|
0.00011
|
NM_001005373.4(LRSAM1):c.1259+20T>C
|
rs527535011
|
0.00011
|
NM_001005373.4(LRSAM1):c.894G>A (p.Thr298=)
|
rs771491533
|
0.00011
|
NM_001122955.4(BSCL2):c.1234+11T>A
|
rs369813738
|
0.00011
|
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=)
|
rs369806785
|
0.00011
|
NM_001365951.3(KIF1B):c.1770C>T (p.Ser590=)
|
rs139764209
|
0.00011
|
NM_001365951.3(KIF1B):c.2593A>C (p.Ser865Arg)
|
rs140015591
|
0.00011
|
NM_001365951.3(KIF1B):c.2934T>G (p.Val978=)
|
rs749154726
|
0.00011
|
NM_001376.5(DYNC1H1):c.10332C>T (p.Ile3444=)
|
rs145087182
|
0.00011
|
NM_001376.5(DYNC1H1):c.11175C>T (p.Asp3725=)
|
rs376691723
|
0.00011
|
NM_001376.5(DYNC1H1):c.13113C>T (p.Asp4371=)
|
rs372518648
|
0.00011
|
NM_001376.5(DYNC1H1):c.13192C>T (p.Leu4398Phe)
|
rs144570049
|
0.00011
|
NM_001376.5(DYNC1H1):c.657G>A (p.Gln219=)
|
rs374440380
|
0.00011
|
NM_001376.5(DYNC1H1):c.7263G>A (p.Thr2421=)
|
rs201651726
|
0.00011
|
NM_001376.5(DYNC1H1):c.8200G>A (p.Val2734Met)
|
rs376679623
|
0.00011
|
NM_001376.5(DYNC1H1):c.9324A>G (p.Glu3108=)
|
rs142338762
|
0.00011
|
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile)
|
rs1049324
|
0.00011
|
NM_001540.5(HSPB1):c.365-7C>G
|
rs201897299
|
0.00011
|
NM_002047.4(GARS1):c.428-13T>A
|
rs373782750
|
0.00011
|
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val)
|
rs199586231
|
0.00011
|
NM_002180.3(IGHMBP2):c.1060+10C>T
|
rs200170825
|
0.00011
|
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=)
|
rs145314949
|
0.00011
|
NM_002180.3(IGHMBP2):c.2612-14C>T
|
rs200940488
|
0.00011
|
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=)
|
rs1457468543
|
0.00011
|
NM_004637.6(RAB7A):c.552C>T (p.Asn184=)
|
rs143140848
|
0.00011
|
NM_004637.6(RAB7A):c.603G>A (p.Ser201=)
|
rs61748098
|
0.00011
|
NM_004990.4(MARS1):c.110-10C>T
|
rs113549256
|
0.00011
|
NM_004990.4(MARS1):c.1797T>C (p.Gly599=)
|
rs370662519
|
0.00011
|
NM_004990.4(MARS1):c.201-13T>C
|
rs201531908
|
0.00011
|
NM_006158.5(NEFL):c.1458C>T (p.Ala486=)
|
rs61726486
|
0.00011
|
NM_006158.5(NEFL):c.1590T>G (p.Val530=)
|
rs267607679
|
0.00011
|
NM_014365.3(HSPB8):c.503C>T (p.Ala168Val)
|
rs373049356
|
0.00011
|
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys)
|
rs369762154
|
0.00011
|
NM_015271.5(TRIM2):c.605+9C>A
|
rs532381432
|
0.00011
|
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=)
|
rs148225182
|
0.00011
|
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=)
|
rs138301077
|
0.00011
|
NM_030973.4(MED25):c.689T>C (p.Val230Ala)
|
rs199982073
|
0.00011
|
NM_170707.4(LMNA):c.1314G>A (p.Gly438=)
|
rs774817302
|
0.00011
|
NM_170707.4(LMNA):c.150C>T (p.Arg50=)
|
rs397517894
|
0.00011
|
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
|
rs140945842
|
0.00010
|
NM_001005361.3(DNM2):c.1659C>T (p.Tyr553=)
|
rs1399189951
|
0.00010
|
NM_001005373.4(LRSAM1):c.1382A>T (p.Gln461Leu)
|
rs145382004
|
0.00010
|
NM_001005373.4(LRSAM1):c.1699-16C>T
|
rs201702419
|
0.00010
|
NM_001005373.4(LRSAM1):c.585C>T (p.Ala195=)
|
rs144645671
|
0.00010
|
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr)
|
rs10776
|
0.00010
|
NM_001303256.3(MORC2):c.840G>A (p.Thr280=)
|
rs150877402
|
0.00010
|
NM_001365951.3(KIF1B):c.3327C>A (p.Asn1109Lys)
|
rs199805720
|
0.00010
|
NM_001376.5(DYNC1H1):c.11139A>G (p.Leu3713=)
|
rs143642514
|
0.00010
|
NM_001376.5(DYNC1H1):c.1308C>T (p.Asp436=)
|
rs147531912
|
0.00010
|
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=)
|
rs35546990
|
0.00010
|
NM_001376.5(DYNC1H1):c.1461+17A>G
|
rs200674036
|
0.00010
|
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=)
|
rs149902566
|
0.00010
|
NM_001376.5(DYNC1H1):c.7275G>A (p.Pro2425=)
|
rs141665695
|
0.00010
|
NM_001376.5(DYNC1H1):c.7317C>T (p.His2439=)
|
rs200197781
|
0.00010
|
NM_001376.5(DYNC1H1):c.7940G>A (p.Gly2647Glu)
|
rs1370530780
|
0.00010
|
NM_001376.5(DYNC1H1):c.8145C>T (p.Pro2715=)
|
rs200413541
|
0.00010
|
NM_001376.5(DYNC1H1):c.8223C>T (p.Pro2741=)
|
rs149018711
|
0.00010
|
NM_001376.5(DYNC1H1):c.83C>T (p.Ser28Leu)
|
rs765882472
|
0.00010
|
NM_001605.3(AARS1):c.1740C>T (p.Tyr580=)
|
rs777419181
|
0.00010
|
NM_001605.3(AARS1):c.962+16A>G
|
rs768846274
|
0.00010
|
NM_002047.4(GARS1):c.1809+14T>C
|
rs367739730
|
0.00010
|
NM_002047.4(GARS1):c.882-15T>G
|
rs199741850
|
0.00010
|
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=)
|
rs759627672
|
0.00010
|
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=)
|
rs145631247
|
0.00010
|
NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=)
|
rs755792559
|
0.00010
|
NM_004990.4(MARS1):c.30G>A (p.Pro10=)
|
rs751620229
|
0.00010
|
NM_014874.4(MFN2):c.1574A>G (p.Asn525Ser)
|
rs145654854
|
0.00010
|
NM_014874.4(MFN2):c.2112C>T (p.Asp704=)
|
rs374371748
|
0.00010
|
NM_015271.5(TRIM2):c.2085G>A (p.Gln695=)
|
rs141479735
|
0.00010
|
NM_015271.5(TRIM2):c.210C>T (p.Cys70=)
|
rs750120043
|
0.00010
|
NM_015271.5(TRIM2):c.444C>T (p.His148=)
|
rs771241708
|
0.00010
|
NM_030973.4(MED25):c.1377C>T (p.Thr459=)
|
rs374928221
|
0.00010
|
NM_030973.4(MED25):c.2181G>A (p.Pro727=)
|
rs775431728
|
0.00010
|
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)
|
rs374926367
|
0.00010
|
NM_000263.4(NAGLU):c.1905C>T (p.Ala635=)
|
rs138324133
|
0.00009
|
NM_000263.4(NAGLU):c.258C>T (p.Ala86=)
|
rs1381587394
|
0.00009
|
NM_000263.4(NAGLU):c.631G>A (p.Asp211Asn)
|
rs145452809
|
0.00009
|
NM_000263.4(NAGLU):c.873C>T (p.Ile291=)
|
rs146734024
|
0.00009
|
NM_001005361.3(DNM2):c.1196+18A>G
|
rs375880464
|
0.00009
|
NM_001005361.3(DNM2):c.2253T>C (p.Pro751=)
|
rs200155565
|
0.00009
|
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138
|
0.00009
|
NM_001005361.3(DNM2):c.555C>T (p.Asp185=)
|
rs140788791
|
0.00009
|
NM_001005361.3(DNM2):c.633C>T (p.Asp211=)
|
rs200191870
|
0.00009
|
NM_001005373.4(LRSAM1):c.1422+15T>A
|
rs372509526
|
0.00009
|
NM_001005373.4(LRSAM1):c.1746G>A (p.Ser582=)
|
rs199997686
|
0.00009
|
NM_001005373.4(LRSAM1):c.1772C>T (p.Ala591Val)
|
rs139344911
|
0.00009
|
NM_001005373.4(LRSAM1):c.1830+20A>G
|
rs199932024
|
0.00009
|
NM_001005373.4(LRSAM1):c.1912+13C>T
|
rs201671353
|
0.00009
|
NM_001005373.4(LRSAM1):c.2046+16T>C
|
rs753575542
|
0.00009
|
NM_001005373.4(LRSAM1):c.267C>T (p.His89=)
|
rs148528063
|
0.00009
|
NM_001005373.4(LRSAM1):c.993G>A (p.Thr331=)
|
rs368674859
|
0.00009
|
NM_001303256.3(MORC2):c.3081C>T (p.Leu1027=)
|
rs149110760
|
0.00009
|
NM_001303256.3(MORC2):c.399G>A (p.Thr133=)
|
rs141171446
|
0.00009
|
NM_001303256.3(MORC2):c.405T>C (p.His135=)
|
rs144582460
|
0.00009
|
NM_001365951.3(KIF1B):c.1716C>T (p.Ser572=)
|
rs369473758
|
0.00009
|
NM_001365951.3(KIF1B):c.315T>C (p.Tyr105=)
|
rs144889528
|
0.00009
|
NM_001365951.3(KIF1B):c.5238C>T (p.Asn1746=)
|
rs146436697
|
0.00009
|
NM_001376.5(DYNC1H1):c.10627-15G>A
|
rs767876392
|
0.00009
|
NM_001376.5(DYNC1H1):c.12939C>T (p.Pro4313=)
|
rs151172467
|
0.00009
|
NM_001376.5(DYNC1H1):c.13315G>A (p.Glu4439Lys)
|
rs142883042
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+8C>T
|
rs200901713
|
0.00009
|
NM_001376.5(DYNC1H1):c.13515+9G>A
|
rs374678076
|
0.00009
|
NM_001376.5(DYNC1H1):c.13782G>A (p.Lys4594=)
|
rs147580834
|
0.00009
|
NM_001376.5(DYNC1H1):c.1560T>C (p.Ile520=)
|
rs761916499
|
0.00009
|
NM_001376.5(DYNC1H1):c.2539-6C>T
|
rs535465221
|
0.00009
|
NM_001376.5(DYNC1H1):c.4749C>T (p.Ser1583=)
|
rs374033335
|
0.00009
|
NM_001376.5(DYNC1H1):c.5311G>A (p.Gly1771Arg)
|
rs139842853
|
0.00009
|
NM_001376.5(DYNC1H1):c.6535C>A (p.Arg2179=)
|
rs147905977
|
0.00009
|
NM_001376.5(DYNC1H1):c.8202G>A (p.Val2734=)
|
rs202023896
|
0.00009
|
NM_001605.3(AARS1):c.1253A>G (p.Tyr418Cys)
|
rs147433234
|
0.00009
|
NM_001605.3(AARS1):c.2401-16C>T
|
rs372138128
|
0.00009
|
NM_001605.3(AARS1):c.525C>T (p.Phe175=)
|
rs369147317
|
0.00009
|
NM_002047.4(GARS1):c.19G>T (p.Val7Leu)
|
rs201132307
|
0.00009
|
NM_002047.4(GARS1):c.569+12C>T
|
rs199760356
|
0.00009
|
NM_002047.4(GARS1):c.700G>A (p.Glu234Lys)
|
rs373326652
|
0.00009
|
NM_002047.4(GARS1):c.765G>A (p.Ala255=)
|
rs201447520
|
0.00009
|
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val)
|
rs370414354
|
0.00009
|
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile)
|
rs199614709
|
0.00009
|
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=)
|
rs146286133
|
0.00009
|
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu)
|
rs370985388
|
0.00009
|
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln)
|
rs199863781
|
0.00009
|
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn)
|
rs139635469
|
0.00009
|
NM_004637.6(RAB7A):c.400-11T>G
|
rs139905992
|
0.00009
|
NM_015271.5(TRIM2):c.1143C>T (p.Asp381=)
|
rs116472166
|
0.00009
|
NM_015271.5(TRIM2):c.1161C>T (p.Thr387=)
|
rs144994337
|
0.00009
|
NM_015271.5(TRIM2):c.570C>G (p.Ala190=)
|
rs371385083
|
0.00009
|
NM_015271.5(TRIM2):c.894A>G (p.Leu298=)
|
rs756661652
|
0.00009
|
NM_021625.5(TRPV4):c.1491+8C>T
|
rs752455441
|
0.00009
|
NM_021625.5(TRPV4):c.2514G>A (p.Pro838=)
|
rs576688961
|
0.00009
|
NM_030973.4(MED25):c.1512G>A (p.Ala504=)
|
rs370554586
|
0.00009
|
NM_030973.4(MED25):c.1747-13C>G
|
rs372428025
|
0.00009
|
NM_030973.4(MED25):c.1906C>A (p.Arg636=)
|
rs761434818
|
0.00009
|
NM_030973.4(MED25):c.819+15G>A
|
rs772300740
|
0.00009
|
NM_030973.4(MED25):c.942C>T (p.Pro314=)
|
rs373971747
|
0.00009
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
|
rs369789056
|
0.00008
|
NM_001005361.3(DNM2):c.1196+652C>T
|
rs377319162
|
0.00008
|
NM_001005361.3(DNM2):c.876G>A (p.Ser292=)
|
rs749140605
|
0.00008
|
NM_001005373.4(LRSAM1):c.175-19C>T
|
rs758774140
|
0.00008
|
NM_001005373.4(LRSAM1):c.685G>A (p.Glu229Lys)
|
rs563259179
|
0.00008
|
NM_001303256.3(MORC2):c.1224C>T (p.Gly408=)
|
rs754338828
|
0.00008
|
NM_001303256.3(MORC2):c.1935T>G (p.Pro645=)
|
rs978305589
|
0.00008
|
NM_001376.5(DYNC1H1):c.10506C>A (p.Thr3502=)
|
rs548760128
|
0.00008
|
NM_001376.5(DYNC1H1):c.10992C>T (p.Leu3664=)
|
rs368621706
|
0.00008
|
NM_001376.5(DYNC1H1):c.13404G>A (p.Thr4468=)
|
rs17541692
|
0.00008
|
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=)
|
rs200339812
|
0.00008
|
NM_001376.5(DYNC1H1):c.8199C>T (p.Val2733=)
|
rs770775119
|
0.00008
|
NM_001376.5(DYNC1H1):c.8988A>G (p.Glu2996=)
|
rs149327058
|
0.00008
|
NM_001376.5(DYNC1H1):c.9531G>A (p.Leu3177=)
|
rs531438720
|
0.00008
|
NM_001540.5(HSPB1):c.428+13G>T
|
rs553117142
|
0.00008
|
NM_001605.3(AARS1):c.1222+7_1222+8insTTGC
|
rs372280293
|
0.00008
|
NM_001605.3(AARS1):c.1405G>A (p.Ala469Thr)
|
rs141486562
|
0.00008
|
NM_002180.3(IGHMBP2):c.1236-10C>T
|
rs778515935
|
0.00008
|
NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=)
|
rs773180915
|
0.00008
|
NM_002180.3(IGHMBP2):c.2612-13G>A
|
rs369494910
|
0.00008
|
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=)
|
rs779293148
|
0.00008
|
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln)
|
rs200566598
|
0.00008
|
NM_004990.4(MARS1):c.771-15C>G
|
rs201328384
|
0.00008
|
NM_014874.4(MFN2):c.1779G>A (p.Ser593=)
|
rs367623682
|
0.00008
|
NM_015271.5(TRIM2):c.220C>T (p.Leu74=)
|
rs12644835
|
0.00008
|
NM_015271.5(TRIM2):c.757T>C (p.Leu253=)
|
rs748899501
|
0.00008
|
NM_030973.4(MED25):c.181-13C>T
|
rs377070498
|
0.00008
|
NM_170707.4(LMNA):c.471G>A (p.Thr157=)
|
rs150645079
|
0.00008
|
NM_000263.4(NAGLU):c.1074G>A (p.Pro358=)
|
rs760335984
|
0.00007
|
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296
|
0.00007
|
NM_001005361.3(DNM2):c.1671+13C>T
|
rs374047080
|
0.00007
|
NM_001005361.3(DNM2):c.2425A>G (p.Ile809Val)
|
rs144133111
|
0.00007
|
NM_001005361.3(DNM2):c.385+14G>T
|
rs768651962
|
0.00007
|
NM_001005373.4(LRSAM1):c.1830+14G>A
|
rs768288133
|
0.00007
|
NM_001005373.4(LRSAM1):c.339G>A (p.Arg113=)
|
rs146613642
|
0.00007
|
NM_001122955.4(BSCL2):c.1143C>T (p.Pro381=)
|
rs150914934
|
0.00007
|
NM_001303256.3(MORC2):c.2617G>T (p.Val873Leu)
|
rs138350528
|
0.00007
|
NM_001303256.3(MORC2):c.3066C>G (p.Ala1022=)
|
rs146032580
|
0.00007
|
NM_001365951.3(KIF1B):c.107-8T>A
|
rs749389756
|
0.00007
|
NM_001365951.3(KIF1B):c.1435-6C>T
|
rs368858419
|
0.00007
|
NM_001365951.3(KIF1B):c.183+12C>G
|
rs374304246
|
0.00007
|
NM_001365951.3(KIF1B):c.4056-6C>G
|
rs754886872
|
0.00007
|
NM_001365951.3(KIF1B):c.405T>C (p.Asn135=)
|
rs201229642
|
0.00007
|
NM_001365951.3(KIF1B):c.5409-15G>A
|
rs371830018
|
0.00007
|
NM_001376.5(DYNC1H1):c.1110A>C (p.Thr370=)
|
rs757687354
|
0.00007
|
NM_001376.5(DYNC1H1):c.11690+16C>G
|
rs763785003
|
0.00007
|
NM_001376.5(DYNC1H1):c.11866-18C>T
|
rs886130859
|
0.00007
|
NM_001376.5(DYNC1H1):c.2160C>T (p.Ile720=)
|
rs763236829
|
0.00007
|
NM_001376.5(DYNC1H1):c.2376C>T (p.Cys792=)
|
rs35092963
|
0.00007
|
NM_001376.5(DYNC1H1):c.3334-4T>C
|
rs368422942
|
0.00007
|
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg)
|
rs867503066
|
0.00007
|
NM_001376.5(DYNC1H1):c.3804+14G>A
|
rs748738577
|
0.00007
|
NM_001376.5(DYNC1H1):c.3804+9C>T
|
rs377635872
|
0.00007
|
NM_001376.5(DYNC1H1):c.4170G>T (p.Leu1390=)
|
rs373442382
|
0.00007
|
NM_001376.5(DYNC1H1):c.519-18T>C
|
rs375656421
|
0.00007
|
NM_001376.5(DYNC1H1):c.6030G>A (p.Pro2010=)
|
rs202004938
|
0.00007
|
NM_001376.5(DYNC1H1):c.6846C>T (p.His2282=)
|
rs770017263
|
0.00007
|
NM_001376.5(DYNC1H1):c.78C>T (p.Asp26=)
|
rs760083766
|
0.00007
|
NM_001605.3(AARS1):c.1222+7A>T
|
rs200591546
|
0.00007
|
NM_001605.3(AARS1):c.1671+7C>T
|
rs747794570
|
0.00007
|
NM_001605.3(AARS1):c.58A>G (p.Arg20Gly)
|
rs770697148
|
0.00007
|
NM_002047.4(GARS1):c.1149C>T (p.Ser383=)
|
rs369389062
|
0.00007
|
NM_002047.4(GARS1):c.562G>A (p.Val188Ile)
|
rs376772628
|
0.00007
|
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=)
|
rs779753312
|
0.00007
|
NM_004637.6(RAB7A):c.213G>A (p.Gln71=)
|
rs140299645
|
0.00007
|
NM_004990.4(MARS1):c.238C>T (p.Leu80Phe)
|
rs190598622
|
0.00007
|
NM_004990.4(MARS1):c.46C>G (p.Leu16Val)
|
rs188955897
|
0.00007
|
NM_005572.4(LMNA):c.1714C>T (p.Arg572Cys)
|
rs773169005
|
0.00007
|
NM_006158.5(NEFL):c.279G>A (p.Gln93=)
|
rs60737254
|
0.00007
|
NM_014874.4(MFN2):c.1617A>G (p.Glu539=)
|
rs556515947
|
0.00007
|
NM_014874.4(MFN2):c.2130G>A (p.Leu710=)
|
rs755608041
|
0.00007
|
NM_014874.4(MFN2):c.475-17C>A
|
rs759684850
|
0.00007
|
NM_015271.5(TRIM2):c.915C>T (p.Ser305=)
|
rs570315105
|
0.00007
|
NM_021625.5(TRPV4):c.1891+17C>T
|
rs376766007
|
0.00007
|
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys)
|
rs145102919
|
0.00007
|
NM_021625.5(TRPV4):c.2581C>T (p.Pro861Ser)
|
rs561101128
|
0.00007
|
NM_021625.5(TRPV4):c.387-9C>T
|
rs552614584
|
0.00007
|
NM_030973.4(MED25):c.1788A>G (p.Val596=)
|
rs1185106322
|
0.00007
|
NM_030973.4(MED25):c.2146+12C>T
|
rs778556242
|
0.00007
|
NM_030973.4(MED25):c.2146+9A>C
|
rs895337036
|
0.00007
|
NM_030973.4(MED25):c.570G>C (p.Ala190=)
|
rs759800230
|
0.00007
|
NM_030973.4(MED25):c.688+16C>T
|
rs536606686
|
0.00007
|
NM_030973.4(MED25):c.825C>T (p.Pro275=)
|
rs771874021
|
0.00007
|
NM_170707.4(LMNA):c.1488+7G>A
|
rs374209100
|
0.00007
|
NM_170707.4(LMNA):c.1530C>T (p.Thr510=)
|
rs138098342
|
0.00007
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00007
|
NM_170707.4(LMNA):c.811-18C>G
|
rs766309567
|
0.00007
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000263.4(NAGLU):c.1335C>T (p.Pro445=)
|
rs202033889
|
0.00006
|
NM_000263.4(NAGLU):c.627C>G (p.Thr209=)
|
rs200496310
|
0.00006
|
NM_001005361.3(DNM2):c.102C>A (p.Ile34=)
|
rs552741402
|
0.00006
|
NM_001005361.3(DNM2):c.1196+628G>C
|
rs374376619
|
0.00006
|
NM_001005361.3(DNM2):c.1196+778G>C
|
rs763908447
|
0.00006
|
NM_001005361.3(DNM2):c.1437C>T (p.Ile479=)
|
rs146506201
|
0.00006
|
NM_001005361.3(DNM2):c.1782-4G>A
|
rs767424969
|
0.00006
|
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=)
|
rs554971107
|
0.00006
|
NM_001005361.3(DNM2):c.213G>A (p.Leu71=)
|
rs375324714
|
0.00006
|
NM_001005361.3(DNM2):c.2151G>A (p.Gln717=)
|
rs543921898
|
0.00006
|
NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His)
|
rs370459176
|
0.00006
|
NM_001005361.3(DNM2):c.312G>A (p.Glu104=)
|
rs144970326
|
0.00006
|
NM_001005361.3(DNM2):c.90C>T (p.Asp30=)
|
rs759919549
|
0.00006
|
NM_001005373.4(LRSAM1):c.1074G>A (p.Ser358=)
|
rs776894109
|
0.00006
|
NM_001005373.4(LRSAM1):c.2028C>T (p.Val676=)
|
rs566890772
|
0.00006
|
NM_001122955.4(BSCL2):c.432A>T (p.Ser144=)
|
rs144774892
|
0.00006
|
NM_001122955.4(BSCL2):c.885G>A (p.Pro295=)
|
rs559783362
|
0.00006
|
NM_001303256.3(MORC2):c.2193+8G>A
|
rs771703018
|
0.00006
|
NM_001303256.3(MORC2):c.2313G>A (p.Lys771=)
|
rs144738487
|
0.00006
|
NM_001303256.3(MORC2):c.2667C>T (p.Ser889=)
|
rs565441094
|
0.00006
|
NM_001365951.3(KIF1B):c.1037+11T>C
|
rs990701421
|
0.00006
|
NM_001365951.3(KIF1B):c.1557T>C (p.Asp519=)
|
rs146364486
|
0.00006
|
NM_001365951.3(KIF1B):c.2001G>A (p.Leu667=)
|
rs543345616
|
0.00006
|
NM_001365951.3(KIF1B):c.3688+10C>T
|
rs755222148
|
0.00006
|
NM_001365951.3(KIF1B):c.3787C>T (p.Pro1263Ser)
|
rs121908163
|
0.00006
|
NM_001365951.3(KIF1B):c.60C>G (p.Thr20=)
|
rs751386973
|
0.00006
|
NM_001376.5(DYNC1H1):c.11388C>T (p.Thr3796=)
|
rs149806996
|
0.00006
|
NM_001376.5(DYNC1H1):c.12031A>G (p.Thr4011Ala)
|
rs753650013
|
0.00006
|
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr)
|
rs547205132
|
0.00006
|
NM_001376.5(DYNC1H1):c.13092G>T (p.Thr4364=)
|
rs756654668
|
0.00006
|
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=)
|
rs536121075
|
0.00006
|
NM_001376.5(DYNC1H1):c.13203C>A (p.Thr4401=)
|
rs138022242
|
0.00006
|
NM_001376.5(DYNC1H1):c.13516-14G>C
|
rs768543264
|
0.00006
|
NM_001376.5(DYNC1H1):c.318C>T (p.Asp106=)
|
rs752702437
|
0.00006
|
NM_001376.5(DYNC1H1):c.623C>T (p.Pro208Leu)
|
rs556010695
|
0.00006
|
NM_001376.5(DYNC1H1):c.634A>G (p.Met212Val)
|
rs138182529
|
0.00006
|
NM_001376.5(DYNC1H1):c.6405+13C>T
|
rs368864874
|
0.00006
|
NM_001376.5(DYNC1H1):c.8177+12C>G
|
rs367551573
|
0.00006
|
NM_001376.5(DYNC1H1):c.9402G>A (p.Pro3134=)
|
rs145095254
|
0.00006
|
NM_001540.5(HSPB1):c.174G>C (p.Leu58=)
|
rs892258745
|
0.00006
|
NM_001605.3(AARS1):c.1140G>A (p.Val380=)
|
rs149055899
|
0.00006
|
NM_001605.3(AARS1):c.1344C>T (p.Ala448=)
|
rs920455151
|
0.00006
|
NM_001605.3(AARS1):c.1546G>C (p.Val516Leu)
|
rs143844046
|
0.00006
|
NM_001605.3(AARS1):c.1878C>T (p.Gly626=)
|
rs752673097
|
0.00006
|
NM_001605.3(AARS1):c.1996G>A (p.Val666Ile)
|
rs374254987
|
0.00006
|
NM_001605.3(AARS1):c.2028G>A (p.Ala676=)
|
rs376280288
|
0.00006
|
NM_001605.3(AARS1):c.2400+7G>A
|
rs1245806372
|
0.00006
|
NM_001605.3(AARS1):c.597C>T (p.Asp199=)
|
rs371595834
|
0.00006
|
NM_001605.3(AARS1):c.865G>A (p.Asp289Asn)
|
rs764718265
|
0.00006
|
NM_001605.3(AARS1):c.951C>T (p.Asn317=)
|
rs763632935
|
0.00006
|
NM_002047.4(GARS1):c.1478A>G (p.Asn493Ser)
|
rs538571144
|
0.00006
|
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys)
|
rs181251337
|
0.00006
|
NM_002047.4(GARS1):c.764C>T (p.Ala255Val)
|
rs765478968
|
0.00006
|
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu)
|
rs77807333
|
0.00006
|
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=)
|
rs199879444
|
0.00006
|
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=)
|
rs149684358
|
0.00006
|
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu)
|
rs201970407
|
0.00006
|
NM_004637.6(RAB7A):c.180+9A>G
|
rs762831187
|
0.00006
|
NM_004637.6(RAB7A):c.205C>A (p.Arg69=)
|
rs963655960
|
0.00006
|
NM_004990.4(MARS1):c.1995T>C (p.Phe665=)
|
rs1034831965
|
0.00006
|
NM_004990.4(MARS1):c.2622G>A (p.Ala874=)
|
rs201214343
|
0.00006
|
NM_006158.5(NEFL):c.1169+14G>A
|
rs1281585043
|
0.00006
|
NM_015271.5(TRIM2):c.1179C>T (p.Thr393=)
|
rs376619155
|
0.00006
|
NM_015271.5(TRIM2):c.1896C>T (p.Asn632=)
|
rs765696015
|
0.00006
|
NM_015271.5(TRIM2):c.1952-6T>C
|
rs548605169
|
0.00006
|
NM_015271.5(TRIM2):c.2022+18G>A
|
rs746781998
|
0.00006
|
NM_021625.5(TRPV4):c.1092C>T (p.Ala364=)
|
rs761716884
|
0.00006
|
NM_021625.5(TRPV4):c.1107C>T (p.Asp369=)
|
rs771626710
|
0.00006
|
NM_021625.5(TRPV4):c.1152+20C>A
|
rs201584110
|
0.00006
|
NM_021625.5(TRPV4):c.144G>A (p.Ser48=)
|
rs748274621
|
0.00006
|
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=)
|
rs189872222
|
0.00006
|
NM_021625.5(TRPV4):c.1554C>T (p.Leu518=)
|
rs374644279
|
0.00006
|
NM_021625.5(TRPV4):c.1728C>T (p.Ala576=)
|
rs149742074
|
0.00006
|
NM_021625.5(TRPV4):c.2247C>T (p.Pro749=)
|
rs141135321
|
0.00006
|
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=)
|
rs142656819
|
0.00006
|
NM_021625.5(TRPV4):c.963C>A (p.Gly321=)
|
rs148534854
|
0.00006
|
NM_030973.4(MED25):c.1038G>T (p.Leu346=)
|
rs759964732
|
0.00006
|
NM_030973.4(MED25):c.1227A>G (p.Gln409=)
|
rs769851706
|
0.00006
|
NM_030973.4(MED25):c.1675-6G>A
|
rs374698299
|
0.00006
|
NM_030973.4(MED25):c.1746+17C>T
|
rs376067132
|
0.00006
|
NM_030973.4(MED25):c.2146+17G>T
|
rs561588731
|
0.00006
|
NM_030973.4(MED25):c.438C>T (p.Cys146=)
|
rs770764179
|
0.00006
|
NM_030973.4(MED25):c.526-13C>T
|
rs749446278
|
0.00006
|
NM_030973.4(MED25):c.630G>A (p.Pro210=)
|
rs764554011
|
0.00006
|
NM_030973.4(MED25):c.843T>C (p.Ala281=)
|
rs765788595
|
0.00006
|
NM_170707.4(LMNA):c.1051A>C (p.Arg351=)
|
rs771623461
|
0.00006
|
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile)
|
rs267607606
|
0.00006
|
NM_170707.4(LMNA):c.1381-6C>T
|
rs371635492
|
0.00006
|
NM_170707.4(LMNA):c.1770C>T (p.Thr590=)
|
rs397517896
|
0.00006
|
NM_170707.4(LMNA):c.1968+37C>T
|
rs555070042
|
0.00006
|
NM_000263.4(NAGLU):c.1209C>A (p.Ile403=)
|
rs758270880
|
0.00005
|
NM_000263.4(NAGLU):c.1839C>T (p.Asp613=)
|
rs143580194
|
0.00005
|
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
|
rs539019626
|
0.00005
|
NM_001005361.3(DNM2):c.1449G>A (p.Gln483=)
|
rs750299400
|
0.00005
|
NM_001005361.3(DNM2):c.1518G>C (p.Leu506=)
|
rs201426481
|
0.00005
|
NM_001005361.3(DNM2):c.1881C>G (p.Pro627=)
|
rs767496363
|
0.00005
|
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr)
|
rs752473055
|
0.00005
|
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala)
|
rs777609224
|
0.00005
|
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu)
|
rs202060910
|
0.00005
|
NM_001005361.3(DNM2):c.235+10G>A
|
rs769906659
|
0.00005
|
NM_001005361.3(DNM2):c.2500C>A (p.Arg834=)
|
rs367898095
|
0.00005
|
NM_001005361.3(DNM2):c.384C>T (p.His128=)
|
rs201089328
|
0.00005
|
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)
|
rs372235062
|
0.00005
|
NM_001005373.4(LRSAM1):c.1218C>T (p.Tyr406=)
|
rs138105071
|
0.00005
|
NM_001005373.4(LRSAM1):c.1347+20C>T
|
rs766326390
|
0.00005
|
NM_001005373.4(LRSAM1):c.1504-4G>A
|
rs370872133
|
0.00005
|
NM_001005373.4(LRSAM1):c.252+8G>A
|
rs751872462
|
0.00005
|
NM_001005373.4(LRSAM1):c.529-6C>T
|
rs754162095
|
0.00005
|
NM_001005373.4(LRSAM1):c.9C>T (p.Leu3=)
|
rs540942030
|
0.00005
|
NM_001303256.3(MORC2):c.2354C>T (p.Ser785Leu)
|
rs551185965
|
0.00005
|
NM_001303256.3(MORC2):c.2355G>A (p.Ser785=)
|
rs371444768
|
0.00005
|
NM_001303256.3(MORC2):c.918G>A (p.Ala306=)
|
rs777693312
|
0.00005
|
NM_001365951.3(KIF1B):c.2829C>T (p.Ala943=)
|
rs745644299
|
0.00005
|
NM_001365951.3(KIF1B):c.4191G>A (p.Pro1397=)
|
rs374650248
|
0.00005
|
NM_001365951.3(KIF1B):c.4755C>T (p.Cys1585=)
|
rs751853543
|
0.00005
|
NM_001365951.3(KIF1B):c.4824+20T>A
|
rs776661939
|
0.00005
|
NM_001365951.3(KIF1B):c.78C>T (p.Cys26=)
|
rs772548887
|
0.00005
|
NM_001376.5(DYNC1H1):c.10203C>T (p.Asn3401=)
|
rs369455947
|
0.00005
|
NM_001376.5(DYNC1H1):c.10292A>G (p.Asn3431Ser)
|
rs764127291
|
0.00005
|
NM_001376.5(DYNC1H1):c.10650G>A (p.Thr3550=)
|
rs143068719
|
0.00005
|
NM_001376.5(DYNC1H1):c.10909-13G>A
|
rs747149012
|
0.00005
|
NM_001376.5(DYNC1H1):c.11046G>A (p.Arg3682=)
|
rs370397467
|
0.00005
|
NM_001376.5(DYNC1H1):c.11520A>G (p.Leu3840=)
|
rs369351359
|
0.00005
|
NM_001376.5(DYNC1H1):c.11873G>T (p.Gly3958Val)
|
rs150118849
|
0.00005
|
NM_001376.5(DYNC1H1):c.12345C>T (p.Ser4115=)
|
rs774128776
|
0.00005
|
NM_001376.5(DYNC1H1):c.12400-12G>A
|
rs371395881
|
0.00005
|
NM_001376.5(DYNC1H1):c.12453A>T (p.Pro4151=)
|
rs200375220
|
0.00005
|
NM_001376.5(DYNC1H1):c.12588C>T (p.Tyr4196=)
|
rs749876358
|
0.00005
|
NM_001376.5(DYNC1H1):c.12663G>A (p.Thr4221=)
|
rs145849008
|
0.00005
|
NM_001376.5(DYNC1H1):c.12765C>T (p.Arg4255=)
|
rs780271275
|
0.00005
|
NM_001376.5(DYNC1H1):c.13024A>G (p.Lys4342Glu)
|
rs747829220
|
0.00005
|
NM_001376.5(DYNC1H1):c.1440C>T (p.Ile480=)
|
rs746284696
|
0.00005
|
NM_001376.5(DYNC1H1):c.2277C>T (p.Arg759=)
|
rs577000800
|
0.00005
|
NM_001376.5(DYNC1H1):c.2328G>A (p.Pro776=)
|
rs144921184
|
0.00005
|
NM_001376.5(DYNC1H1):c.2539-9T>C
|
rs750362256
|
0.00005
|
NM_001376.5(DYNC1H1):c.2718+8A>G
|
rs554048647
|
0.00005
|
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile)
|
rs372740994
|
0.00005
|
NM_001376.5(DYNC1H1):c.4074+15C>T
|
rs553514749
|
0.00005
|
NM_001376.5(DYNC1H1):c.4843T>C (p.Leu1615=)
|
rs375058473
|
0.00005
|
NM_001376.5(DYNC1H1):c.519-17A>G
|
rs370195127
|
0.00005
|
NM_001376.5(DYNC1H1):c.5326G>A (p.Ala1776Thr)
|
rs200722698
|
0.00005
|
NM_001376.5(DYNC1H1):c.5817+12T>C
|
rs749588152
|
0.00005
|
NM_001376.5(DYNC1H1):c.5874C>T (p.Asp1958=)
|
rs142726284
|
0.00005
|
NM_001376.5(DYNC1H1):c.6381T>C (p.Ile2127=)
|
rs759525537
|
0.00005
|
NM_001376.5(DYNC1H1):c.7605C>T (p.Ile2535=)
|
rs370625764
|
0.00005
|
NM_001376.5(DYNC1H1):c.7615-8G>A
|
rs375161806
|
0.00005
|
NM_001376.5(DYNC1H1):c.7830G>A (p.Arg2610=)
|
rs759376664
|
0.00005
|
NM_001376.5(DYNC1H1):c.8508-13G>A
|
rs377291798
|
0.00005
|
NM_001376.5(DYNC1H1):c.9048+20C>T
|
rs775898480
|
0.00005
|
NM_001376.5(DYNC1H1):c.9155A>G (p.Lys3052Arg)
|
rs774806132
|
0.00005
|
NM_001540.5(HSPB1):c.210G>A (p.Ala70=)
|
rs749963653
|
0.00005
|
NM_001540.5(HSPB1):c.277G>A (p.Asp93Asn)
|
rs777201941
|
0.00005
|
NM_001540.5(HSPB1):c.45C>T (p.Ser15=)
|
rs780878780
|
0.00005
|
NM_001540.5(HSPB1):c.537C>A (p.Ile179=)
|
rs372981842
|
0.00005
|
NM_001605.3(AARS1):c.1395G>A (p.Leu465=)
|
rs890095859
|
0.00005
|
NM_001605.3(AARS1):c.2025A>G (p.Ala675=)
|
rs745695764
|
0.00005
|
NM_001605.3(AARS1):c.2186G>A (p.Arg729Gln)
|
rs142850278
|
0.00005
|
NM_001605.3(AARS1):c.2223G>A (p.Thr741=)
|
rs375400530
|
0.00005
|
NM_001605.3(AARS1):c.2286+18G>A
|
rs780996918
|
0.00005
|
NM_001605.3(AARS1):c.2721+8C>T
|
rs577958349
|
0.00005
|
NM_001605.3(AARS1):c.479+12C>T
|
rs201596086
|
0.00005
|
NM_002047.4(GARS1):c.1440T>C (p.Leu480=)
|
rs560809761
|
0.00005
|
NM_002047.4(GARS1):c.1663A>G (p.Met555Val)
|
rs1023871853
|
0.00005
|
NM_002047.4(GARS1):c.1754T>C (p.Met585Thr)
|
rs374378925
|
0.00005
|
NM_002047.4(GARS1):c.1857C>T (p.Leu619=)
|
rs183573304
|
0.00005
|
NM_002047.4(GARS1):c.1904-19del
|
rs745958570
|
0.00005
|
NM_002047.4(GARS1):c.325-9C>G
|
rs770645408
|
0.00005
|
NM_002047.4(GARS1):c.333G>A (p.Ala111=)
|
rs762212188
|
0.00005
|
NM_002047.4(GARS1):c.816A>G (p.Leu272=)
|
rs777128525
|
0.00005
|
NM_002180.3(IGHMBP2):c.1236-5C>T
|
rs191443556
|
0.00005
|
NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=)
|
rs143134727
|
0.00005
|
NM_002180.3(IGHMBP2):c.1633-14G>A
|
rs368126775
|
0.00005
|
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=)
|
rs1337346956
|
0.00005
|
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=)
|
rs373001247
|
0.00005
|
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=)
|
rs374950193
|
0.00005
|
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr)
|
rs138607722
|
0.00005
|
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn)
|
rs200897747
|
0.00005
|
NM_002180.3(IGHMBP2):c.2784+7C>T
|
rs58094037
|
0.00005
|
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=)
|
rs150937080
|
0.00005
|
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=)
|
rs144565481
|
0.00005
|
NM_004637.6(RAB7A):c.300T>C (p.Asp100=)
|
rs138982701
|
0.00005
|
NM_004637.6(RAB7A):c.53+14G>T
|
rs779402683
|
0.00005
|
NM_004990.4(MARS1):c.1284C>T (p.Val428=)
|
rs752350446
|
0.00005
|
NM_004990.4(MARS1):c.1908G>A (p.Thr636=)
|
rs529046133
|
0.00005
|
NM_004990.4(MARS1):c.200+11G>A
|
rs369608464
|
0.00005
|
NM_004990.4(MARS1):c.2464-13T>C
|
rs377174430
|
0.00005
|
NM_004990.4(MARS1):c.2481G>A (p.Lys827=)
|
rs535321437
|
0.00005
|
NM_004990.4(MARS1):c.2613G>A (p.Ala871=)
|
rs373439522
|
0.00005
|
NM_004990.4(MARS1):c.2679C>T (p.Ala893=)
|
rs952046425
|
0.00005
|
NM_004990.4(MARS1):c.888-7C>T
|
rs754709899
|
0.00005
|
NM_006158.5(NEFL):c.1461G>A (p.Glu487=)
|
rs763418924
|
0.00005
|
NM_014365.3(HSPB8):c.354C>T (p.Tyr118=)
|
rs374476577
|
0.00005
|
NM_014874.4(MFN2):c.2204+12C>T
|
rs373553143
|
0.00005
|
NM_014874.4(MFN2):c.2259G>A (p.Leu753=)
|
rs1045537458
|
0.00005
|
NM_015271.5(TRIM2):c.1869G>A (p.Ala623=)
|
rs138879605
|
0.00005
|
NM_015271.5(TRIM2):c.2091T>C (p.Asn697=)
|
rs144445840
|
0.00005
|
NM_015271.5(TRIM2):c.2169T>C (p.Phe723=)
|
rs148412849
|
0.00005
|
NM_015271.5(TRIM2):c.454-16C>T
|
rs749230397
|
0.00005
|
NM_015271.5(TRIM2):c.879G>A (p.Thr293=)
|
rs115191942
|
0.00005
|
NM_021625.5(TRPV4):c.1062C>T (p.Ala354=)
|
rs115446386
|
0.00005
|
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr)
|
rs200838499
|
0.00005
|
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu)
|
rs200199102
|
0.00005
|
NM_021625.5(TRPV4):c.2459-4G>A
|
rs762182385
|
0.00005
|
NM_021625.5(TRPV4):c.854-18C>T
|
rs368607653
|
0.00005
|
NM_030973.4(MED25):c.1572C>T (p.Gly524=)
|
rs559482732
|
0.00005
|
NM_030973.4(MED25):c.1785C>T (p.Thr595=)
|
rs530025381
|
0.00005
|
NM_030973.4(MED25):c.2147-16C>T
|
rs569169080
|
0.00005
|
NM_030973.4(MED25):c.342C>T (p.Ile114=)
|
rs367931150
|
0.00005
|
NM_170707.4(LMNA):c.1236G>C (p.Gly412=)
|
rs763537103
|
0.00005
|
NM_170707.4(LMNA):c.1803C>T (p.Ser601=)
|
rs267607604
|
0.00005
|
NM_000263.4(NAGLU):c.1068C>T (p.His356=)
|
rs753745933
|
0.00004
|
NM_000263.4(NAGLU):c.1884G>A (p.Ala628=)
|
rs763394060
|
0.00004
|
NM_000263.4(NAGLU):c.2220C>T (p.Ala740=)
|
rs756351696
|
0.00004
|
NM_000263.4(NAGLU):c.383+7C>T
|
rs768602711
|
0.00004
|
NM_000263.4(NAGLU):c.542C>A (p.Ala181Asp)
|
rs149859697
|
0.00004
|
NM_000263.4(NAGLU):c.648C>G (p.Pro216=)
|
rs755855749
|
0.00004
|
NM_001005361.3(DNM2):c.1196+603C>T
|
rs745481476
|
0.00004
|
NM_001005361.3(DNM2):c.1336-13C>T
|
rs369058231
|
0.00004
|
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840
|
0.00004
|
NM_001005361.3(DNM2):c.162-16T>C
|
rs573469750
|
0.00004
|
NM_001005361.3(DNM2):c.1893+17C>T
|
rs45585238
|
0.00004
|
NM_001005361.3(DNM2):c.189C>T (p.Ile63=)
|
rs371493258
|
0.00004
|
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)
|
rs201972896
|
0.00004
|
NM_001005361.3(DNM2):c.2016C>T (p.Arg672=)
|
rs368131004
|
0.00004
|
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn)
|
rs879254300
|
0.00004
|
NM_001005361.3(DNM2):c.2291+4C>T
|
rs200408852
|
0.00004
|
NM_001005361.3(DNM2):c.2292-15T>A
|
rs534518685
|
0.00004
|
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=)
|
rs200968756
|
0.00004
|
NM_001005361.3(DNM2):c.327G>A (p.Thr109=)
|
rs369843334
|
0.00004
|
NM_001005361.3(DNM2):c.453C>T (p.Asp151=)
|
rs201681441
|
0.00004
|
NM_001005373.4(LRSAM1):c.102C>T (p.Leu34=)
|
rs762785076
|
0.00004
|
NM_001005373.4(LRSAM1):c.1259+19G>A
|
rs756166245
|
0.00004
|
NM_001005373.4(LRSAM1):c.1632G>A (p.Gln544=)
|
rs762712712
|
0.00004
|
NM_001005373.4(LRSAM1):c.1980G>A (p.Arg660=)
|
rs147805183
|
0.00004
|
NM_001005373.4(LRSAM1):c.2047-15G>A
|
rs367860563
|
0.00004
|
NM_001005373.4(LRSAM1):c.231C>T (p.Leu77=)
|
rs149769300
|
0.00004
|
NM_001005373.4(LRSAM1):c.253-17G>T
|
rs202146452
|
0.00004
|
NM_001005373.4(LRSAM1):c.294C>T (p.Asp98=)
|
rs79514284
|
0.00004
|
NM_001005373.4(LRSAM1):c.619+14G>A
|
rs770398029
|
0.00004
|
NM_001005373.4(LRSAM1):c.6G>A (p.Pro2=)
|
rs572330792
|
0.00004
|
NM_001005373.4(LRSAM1):c.822G>A (p.Leu274=)
|
rs146079606
|
0.00004
|
NM_001005373.4(LRSAM1):c.954C>T (p.Asn318=)
|
rs200527839
|
0.00004
|
NM_001122955.4(BSCL2):c.1017A>G (p.Arg339=)
|
rs147902831
|
0.00004
|
NM_001122955.4(BSCL2):c.1234+14T>G
|
rs778380128
|
0.00004
|
NM_001122955.4(BSCL2):c.846G>A (p.Ala282=)
|
rs375554369
|
0.00004
|
NM_001122955.4(BSCL2):c.870G>C (p.Leu290=)
|
rs767104988
|
0.00004
|
NM_001303256.3(MORC2):c.1041T>C (p.Asp347=)
|
rs764097903
|
0.00004
|
NM_001303256.3(MORC2):c.1167A>C (p.Arg389=)
|
rs765714143
|
0.00004
|
NM_001303256.3(MORC2):c.18C>T (p.Tyr6=)
|
rs189769173
|
0.00004
|
NM_001303256.3(MORC2):c.2124G>T (p.Glu708Asp)
|
rs201652834
|
0.00004
|
NM_001303256.3(MORC2):c.2194-12C>T
|
rs373766281
|
0.00004
|
NM_001303256.3(MORC2):c.226+10G>A
|
rs1016609689
|
0.00004
|
NM_001303256.3(MORC2):c.2358T>C (p.Ala786=)
|
rs537987039
|
0.00004
|
NM_001303256.3(MORC2):c.2381-8A>G
|
rs778591776
|
0.00004
|
NM_001303256.3(MORC2):c.276T>C (p.Pro92=)
|
rs142640132
|
0.00004
|
NM_001303256.3(MORC2):c.462C>T (p.Thr154=)
|
rs191382105
|
0.00004
|
NM_001303256.3(MORC2):c.522G>A (p.Lys174=)
|
rs779685773
|
0.00004
|
NM_001303256.3(MORC2):c.717G>A (p.Ser239=)
|
rs375469737
|
0.00004
|
NM_001303256.3(MORC2):c.905-11C>T
|
rs375444407
|
0.00004
|
NM_001303256.3(MORC2):c.975G>A (p.Thr325=)
|
rs201903402
|
0.00004
|
NM_001365951.3(KIF1B):c.1778-5C>T
|
rs567968956
|
0.00004
|
NM_001365951.3(KIF1B):c.2676-18G>A
|
rs768886781
|
0.00004
|
NM_001365951.3(KIF1B):c.2727C>T (p.Pro909=)
|
rs200858074
|
0.00004
|
NM_001365951.3(KIF1B):c.3042A>C (p.Ala1014=)
|
rs748192983
|
0.00004
|
NM_001365951.3(KIF1B):c.3456G>A (p.Thr1152=)
|
rs574168097
|
0.00004
|
NM_001365951.3(KIF1B):c.3534A>G (p.Glu1178=)
|
rs1265416063
|
0.00004
|
NM_001365951.3(KIF1B):c.3849A>G (p.Thr1283=)
|
rs746980680
|
0.00004
|
NM_001365951.3(KIF1B):c.4644G>A (p.Gln1548=)
|
rs199611419
|
0.00004
|
NM_001365951.3(KIF1B):c.5364C>T (p.Asn1788=)
|
rs146120509
|
0.00004
|
NM_001365951.3(KIF1B):c.690C>T (p.His230=)
|
rs761836784
|
0.00004
|
NM_001365951.3(KIF1B):c.753A>C (p.Gly251=)
|
rs537439756
|
0.00004
|
NM_001376.5(DYNC1H1):c.10626+7A>G
|
rs1427174553
|
0.00004
|
NM_001376.5(DYNC1H1):c.10627-16C>T
|
rs762039479
|
0.00004
|
NM_001376.5(DYNC1H1):c.10896C>A (p.Pro3632=)
|
rs200903643
|
0.00004
|
NM_001376.5(DYNC1H1):c.10941G>A (p.Pro3647=)
|
rs374214760
|
0.00004
|
NM_001376.5(DYNC1H1):c.11295G>A (p.Thr3765=)
|
rs372847973
|
0.00004
|
NM_001376.5(DYNC1H1):c.11424C>T (p.Cys3808=)
|
rs758877590
|
0.00004
|
NM_001376.5(DYNC1H1):c.11596-20G>A
|
rs372623721
|
0.00004
|
NM_001376.5(DYNC1H1):c.11601G>A (p.Ala3867=)
|
rs781162203
|
0.00004
|
NM_001376.5(DYNC1H1):c.12165C>T (p.Val4055=)
|
rs753386602
|
0.00004
|
NM_001376.5(DYNC1H1):c.12214+8T>A
|
rs1447108512
|
0.00004
|
NM_001376.5(DYNC1H1):c.12270G>A (p.Ser4090=)
|
rs549895432
|
0.00004
|
NM_001376.5(DYNC1H1):c.12868G>A (p.Gly4290Arg)
|
rs748643448
|
0.00004
|
NM_001376.5(DYNC1H1):c.1296A>G (p.Val432=)
|
rs767564445
|
0.00004
|
NM_001376.5(DYNC1H1):c.12981C>T (p.Ala4327=)
|
rs538662679
|
0.00004
|
NM_001376.5(DYNC1H1):c.13260C>T (p.Gly4420=)
|
rs777922418
|
0.00004
|
NM_001376.5(DYNC1H1):c.13303G>A (p.Val4435Ile)
|
rs767195767
|
0.00004
|
NM_001376.5(DYNC1H1):c.1695C>T (p.Thr565=)
|
rs748689506
|
0.00004
|
NM_001376.5(DYNC1H1):c.2353G>A (p.Val785Ile)
|
rs766014166
|
0.00004
|
NM_001376.5(DYNC1H1):c.2538+10C>T
|
rs201216234
|
0.00004
|
NM_001376.5(DYNC1H1):c.3046G>C (p.Glu1016Gln)
|
rs756929342
|
0.00004
|
NM_001376.5(DYNC1H1):c.3230A>G (p.Asn1077Ser)
|
rs764451677
|
0.00004
|
NM_001376.5(DYNC1H1):c.3334-13A>G
|
rs987888842
|
0.00004
|
NM_001376.5(DYNC1H1):c.3419C>T (p.Thr1140Met)
|
rs587780331
|
0.00004
|
NM_001376.5(DYNC1H1):c.3961-14A>G
|
rs558548356
|
0.00004
|
NM_001376.5(DYNC1H1):c.4341G>A (p.Lys1447=)
|
rs780278262
|
0.00004
|
NM_001376.5(DYNC1H1):c.4484A>G (p.Asn1495Ser)
|
rs566164007
|
0.00004
|
NM_001376.5(DYNC1H1):c.4732C>T (p.Leu1578=)
|
rs143297786
|
0.00004
|
NM_001376.5(DYNC1H1):c.5239-10T>C
|
rs751574217
|
0.00004
|
NM_001376.5(DYNC1H1):c.5248G>A (p.Val1750Met)
|
rs199740595
|
0.00004
|
NM_001376.5(DYNC1H1):c.5698C>T (p.Leu1900=)
|
rs371157224
|
0.00004
|
NM_001376.5(DYNC1H1):c.5818-4C>T
|
rs532720319
|
0.00004
|
NM_001376.5(DYNC1H1):c.6267T>A (p.Gly2089=)
|
rs374997831
|
0.00004
|
NM_001376.5(DYNC1H1):c.6486G>A (p.Ser2162=)
|
rs149707073
|
0.00004
|
NM_001376.5(DYNC1H1):c.668G>A (p.Arg223His)
|
rs561761105
|
0.00004
|
NM_001376.5(DYNC1H1):c.6732C>T (p.Leu2244=)
|
rs572885000
|
0.00004
|
NM_001376.5(DYNC1H1):c.6909C>T (p.Phe2303=)
|
rs138326082
|
0.00004
|
NM_001376.5(DYNC1H1):c.7147C>T (p.Arg2383Cys)
|
rs773952714
|
0.00004
|
NM_001376.5(DYNC1H1):c.7193G>A (p.Arg2398His)
|
rs912429154
|
0.00004
|
NM_001376.5(DYNC1H1):c.7272A>G (p.Gln2424=)
|
rs749295312
|
0.00004
|
NM_001376.5(DYNC1H1):c.7431C>T (p.Pro2477=)
|
rs375687099
|
0.00004
|
NM_001376.5(DYNC1H1):c.8175C>T (p.His2725=)
|
rs150181583
|
0.00004
|
NM_001376.5(DYNC1H1):c.8177+13G>A
|
rs779567607
|
0.00004
|
NM_001376.5(DYNC1H1):c.8556G>A (p.Thr2852=)
|
rs370808839
|
0.00004
|
NM_001376.5(DYNC1H1):c.8637+9C>T
|
rs202042156
|
0.00004
|
NM_001376.5(DYNC1H1):c.9072C>T (p.Asp3024=)
|
rs372493817
|
0.00004
|
NM_001376.5(DYNC1H1):c.9495C>T (p.Gly3165=)
|
rs763139389
|
0.00004
|
NM_001376.5(DYNC1H1):c.9564C>T (p.His3188=)
|
rs202053613
|
0.00004
|
NM_001376.5(DYNC1H1):c.9645A>G (p.Val3215=)
|
rs746764653
|
0.00004
|
NM_001540.5(HSPB1):c.39C>T (p.Gly13=)
|
rs750588141
|
0.00004
|
NM_001540.5(HSPB1):c.417G>A (p.Thr139=)
|
rs754991269
|
0.00004
|
NM_001605.3(AARS1):c.1221C>T (p.Pro407=)
|
rs199547987
|
0.00004
|
NM_001605.3(AARS1):c.1361G>T (p.Gly454Val)
|
rs761208550
|
0.00004
|
NM_001605.3(AARS1):c.1419C>G (p.Leu473=)
|
rs375571275
|
0.00004
|
NM_001605.3(AARS1):c.145-17C>T
|
rs375832841
|
0.00004
|
NM_001605.3(AARS1):c.1479C>T (p.Ser493=)
|
rs142958195
|
0.00004
|
NM_001605.3(AARS1):c.1992+15G>A
|
rs368023282
|
0.00004
|
NM_001605.3(AARS1):c.2770T>G (p.Ser924Ala)
|
rs766897796
|
0.00004
|
NM_001605.3(AARS1):c.630T>C (p.Asn210=)
|
rs561149621
|
0.00004
|
NM_001605.3(AARS1):c.849T>C (p.Val283=)
|
rs773866431
|
0.00004
|
NM_001605.3(AARS1):c.9T>G (p.Ser3=)
|
rs539360231
|
0.00004
|
NM_002047.4(GARS1):c.1158C>T (p.Ser386=)
|
rs373576697
|
0.00004
|
NM_002047.4(GARS1):c.1534G>A (p.Ala512Thr)
|
rs750971084
|
0.00004
|
NM_002047.4(GARS1):c.1828G>A (p.Val610Ile)
|
rs201432170
|
0.00004
|
NM_002047.4(GARS1):c.1903+15T>C
|
rs577838983
|
0.00004
|
NM_002047.4(GARS1):c.1923T>C (p.His641=)
|
rs182542046
|
0.00004
|
NM_002047.4(GARS1):c.264A>G (p.Gln88=)
|
rs776884508
|
0.00004
|
NM_002047.4(GARS1):c.44C>T (p.Ala15Val)
|
rs758037738
|
0.00004
|
NM_002180.3(IGHMBP2):c.1061-15C>T
|
rs369119507
|
0.00004
|
NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=)
|
rs1566439488
|
0.00004
|
NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=)
|
rs753290152
|
0.00004
|
NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=)
|
rs377460631
|
0.00004
|
NM_002180.3(IGHMBP2):c.1538-19G>A
|
rs199911239
|
0.00004
|
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=)
|
rs368775789
|
0.00004
|
NM_002180.3(IGHMBP2):c.1749C>T (p.Asn583=)
|
rs922075405
|
0.00004
|
NM_002180.3(IGHMBP2):c.1851C>T (p.Val617=)
|
rs780238088
|
0.00004
|
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=)
|
rs139237340
|
0.00004
|
NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=)
|
rs145365851
|
0.00004
|
NM_002180.3(IGHMBP2):c.256+8C>T
|
rs760649755
|
0.00004
|
NM_002180.3(IGHMBP2):c.2612-15G>A
|
rs372230504
|
0.00004
|
NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=)
|
rs898463829
|
0.00004
|
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=)
|
rs142128884
|
0.00004
|
NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=)
|
rs761060846
|
0.00004
|
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=)
|
rs1201956816
|
0.00004
|
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=)
|
rs748899869
|
0.00004
|
NM_004637.6(RAB7A):c.399+17A>C
|
rs368008098
|
0.00004
|
NM_004637.6(RAB7A):c.54-20T>C
|
rs370926984
|
0.00004
|
NM_004990.4(MARS1):c.1091+19G>A
|
rs746544219
|
0.00004
|
NM_004990.4(MARS1):c.1209C>T (p.Gly403=)
|
rs746685572
|
0.00004
|
NM_004990.4(MARS1):c.1294-13T>C
|
rs762208725
|
0.00004
|
NM_004990.4(MARS1):c.2099+9C>T
|
rs936487706
|
0.00004
|
NM_004990.4(MARS1):c.2230T>C (p.Leu744=)
|
rs762062288
|
0.00004
|
NM_004990.4(MARS1):c.2256C>G (p.Leu752=)
|
rs201540140
|
0.00004
|
NM_004990.4(MARS1):c.2610T>C (p.Ala870=)
|
rs769627922
|
0.00004
|
NM_004990.4(MARS1):c.630C>T (p.Pro210=)
|
rs143741525
|
0.00004
|
NM_004990.4(MARS1):c.747G>A (p.Pro249=)
|
rs200490364
|
0.00004
|
NM_004990.4(MARS1):c.831T>C (p.Asn277=)
|
rs367995771
|
0.00004
|
NM_006158.5(NEFL):c.1169+20G>T
|
rs1031514808
|
0.00004
|
NM_006158.5(NEFL):c.174C>T (p.Ser58=)
|
rs760360980
|
0.00004
|
NM_014365.3(HSPB8):c.93G>C (p.Leu31=)
|
rs147945133
|
0.00004
|
NM_014874.4(MFN2):c.1160+19A>G
|
rs371139883
|
0.00004
|
NM_014874.4(MFN2):c.1288-10T>C
|
rs201151182
|
0.00004
|
NM_014874.4(MFN2):c.1451C>T (p.Thr484Met)
|
rs375480365
|
0.00004
|
NM_014874.4(MFN2):c.2069+15C>T
|
rs375924621
|
0.00004
|
NM_015271.5(TRIM2):c.1215C>T (p.Asp405=)
|
rs773883569
|
0.00004
|
NM_015271.5(TRIM2):c.1511-13T>C
|
rs547303222
|
0.00004
|
NM_015271.5(TRIM2):c.1615-17T>C
|
rs371360765
|
0.00004
|
NM_015271.5(TRIM2):c.1615-7C>G
|
rs201299149
|
0.00004
|
NM_015271.5(TRIM2):c.519C>T (p.His173=)
|
rs114900176
|
0.00004
|
NM_015271.5(TRIM2):c.573G>A (p.Ser191=)
|
rs376369145
|
0.00004
|
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=)
|
rs140040335
|
0.00004
|
NM_021625.5(TRPV4):c.1449C>G (p.Val483=)
|
rs1060504550
|
0.00004
|
NM_021625.5(TRPV4):c.1492-17C>T
|
rs533510842
|
0.00004
|
NM_021625.5(TRPV4):c.1494G>A (p.Pro498=)
|
rs780948784
|
0.00004
|
NM_021625.5(TRPV4):c.1584+18del
|
rs757667255
|
0.00004
|
NM_021625.5(TRPV4):c.1584+20G>A
|
rs746629480
|
0.00004
|
NM_021625.5(TRPV4):c.1899C>T (p.Val633=)
|
rs753027239
|
0.00004
|
NM_021625.5(TRPV4):c.375G>A (p.Lys125=)
|
rs777366805
|
0.00004
|
NM_021625.5(TRPV4):c.387-6C>T
|
rs775634013
|
0.00004
|
NM_021625.5(TRPV4):c.712+11G>A
|
rs540760312
|
0.00004
|
NM_030973.4(MED25):c.1101+15G>A
|
rs772450150
|
0.00004
|
NM_030973.4(MED25):c.1316+19C>T
|
rs566927009
|
0.00004
|
NM_030973.4(MED25):c.1317-9C>T
|
rs370255278
|
0.00004
|
NM_030973.4(MED25):c.1605C>T (p.Asn535=)
|
rs922801210
|
0.00004
|
NM_030973.4(MED25):c.1989C>T (p.Pro663=)
|
rs762594410
|
0.00004
|
NM_030973.4(MED25):c.2046G>A (p.Pro682=)
|
rs755620011
|
0.00004
|
NM_030973.4(MED25):c.2147-19C>T
|
rs774083011
|
0.00004
|
NM_030973.4(MED25):c.306-9C>T
|
rs1458825800
|
0.00004
|
NM_030973.4(MED25):c.810G>A (p.Pro270=)
|
rs369512125
|
0.00004
|
NM_030973.4(MED25):c.855G>A (p.Ala285=)
|
rs374949762
|
0.00004
|
NM_170707.4(LMNA):c.1299C>T (p.His433=)
|
rs61217436
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
NM_170707.4(LMNA):c.357-20C>T
|
rs193922724
|
0.00004
|
NM_170707.4(LMNA):c.357-8T>C
|
rs1053291240
|
0.00004
|
NM_170707.4(LMNA):c.726G>A (p.Ala242=)
|
rs763625309
|
0.00004
|
NM_170707.4(LMNA):c.936+12C>T
|
rs199881992
|
0.00004
|
NM_000263.4(NAGLU):c.1021+8G>T
|
rs749198686
|
0.00003
|
NM_000263.4(NAGLU):c.1023G>T (p.Val341=)
|
rs1267291000
|
0.00003
|
NM_000263.4(NAGLU):c.1176C>T (p.Thr392=)
|
rs766094935
|
0.00003
|
NM_000263.4(NAGLU):c.1452G>A (p.Gly484=)
|
rs376593763
|
0.00003
|
NM_000263.4(NAGLU):c.1479G>A (p.Ala493=)
|
rs113379621
|
0.00003
|
NM_000263.4(NAGLU):c.1674C>T (p.Tyr558=)
|
rs762031686
|
0.00003
|
NM_000263.4(NAGLU):c.1899C>T (p.Ala633=)
|
rs767268083
|
0.00003
|
NM_000263.4(NAGLU):c.199C>T (p.Leu67=)
|
rs920631661
|
0.00003
|
NM_000263.4(NAGLU):c.2218G>C (p.Ala740Pro)
|
rs750668298
|
0.00003
|
NM_000263.4(NAGLU):c.255C>T (p.Ala85=)
|
rs1229160465
|
0.00003
|
NM_000263.4(NAGLU):c.47C>T (p.Ala16Val)
|
rs575956298
|
0.00003
|
NM_000263.4(NAGLU):c.531+10C>T
|
rs373999016
|
0.00003
|
NM_000263.4(NAGLU):c.813T>C (p.Phe271=)
|
rs776459470
|
0.00003
|
NM_000263.4(NAGLU):c.984C>T (p.Ala328=)
|
rs759609134
|
0.00003
|
NM_001005361.3(DNM2):c.1032C>T (p.Ile344=)
|
rs747050783
|
0.00003
|
NM_001005361.3(DNM2):c.1196+11C>T
|
rs773099792
|
0.00003
|
NM_001005361.3(DNM2):c.1196+625C>T
|
rs542089703
|
0.00003
|
NM_001005361.3(DNM2):c.1196+640G>A
|
rs774748942
|
0.00003
|
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln)
|
rs140043676
|
0.00003
|
NM_001005361.3(DNM2):c.1423-9C>G
|
rs371006369
|
0.00003
|
NM_001005361.3(DNM2):c.1461C>T (p.Asn487=)
|
rs780182969
|
0.00003
|
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu)
|
rs753402698
|
0.00003
|
NM_001005361.3(DNM2):c.1558-13C>T
|
rs755260650
|
0.00003
|
NM_001005361.3(DNM2):c.1558-15C>T
|
rs946792072
|
0.00003
|
NM_001005361.3(DNM2):c.161+15C>G
|
rs778544871
|
0.00003
|
NM_001005361.3(DNM2):c.162-9C>A
|
rs200736669
|
0.00003
|
NM_001005361.3(DNM2):c.177C>A (p.Arg59=)
|
rs762795230
|
0.00003
|
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191
|
0.00003
|
NM_001005361.3(DNM2):c.1839G>T (p.Val613=)
|
rs200146468
|
0.00003
|
NM_001005361.3(DNM2):c.1922A>G (p.Asn641Ser)
|
rs767924770
|
0.00003
|
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=)
|
rs768285660
|
0.00003
|
NM_001005361.3(DNM2):c.2295C>T (p.Pro765=)
|
rs1040102521
|
0.00003
|
NM_001005361.3(DNM2):c.235+9G>T
|
rs369596325
|
0.00003
|
NM_001005361.3(DNM2):c.2376C>A (p.Pro792=)
|
rs781478890
|
0.00003
|
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=)
|
rs1028907663
|
0.00003
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00003
|
NM_001005361.3(DNM2):c.750A>G (p.Ala250=)
|
rs202214529
|
0.00003
|
NM_001005361.3(DNM2):c.792C>A (p.Ala264=)
|
rs530978513
|
0.00003
|
NM_001005361.3(DNM2):c.850-7C>G
|
rs778548382
|
0.00003
|
NM_001005361.3(DNM2):c.992+11C>T
|
rs761511769
|
0.00003
|
NM_001005361.3(DNM2):c.993-14C>T
|
rs761380478
|
0.00003
|
NM_001005373.4(LRSAM1):c.1266C>T (p.Ala422=)
|
rs144095352
|
0.00003
|
NM_001005373.4(LRSAM1):c.129+20G>C
|
rs766476460
|
0.00003
|
NM_001005373.4(LRSAM1):c.1504-5C>G
|
rs377190920
|
0.00003
|
NM_001005373.4(LRSAM1):c.1587C>T (p.Leu529=)
|
rs201588177
|
0.00003
|
NM_001005373.4(LRSAM1):c.1599+19T>C
|
rs372873701
|
0.00003
|
NM_001005373.4(LRSAM1):c.1759C>T (p.Leu587=)
|
rs936559080
|
0.00003
|
NM_001005373.4(LRSAM1):c.2062C>A (p.Leu688Ile)
|
rs765956865
|
0.00003
|
NM_001005373.4(LRSAM1):c.406+20G>A
|
rs776143892
|
0.00003
|
NM_001005373.4(LRSAM1):c.498G>A (p.Pro166=)
|
rs140809697
|
0.00003
|
NM_001005373.4(LRSAM1):c.543C>T (p.Asp181=)
|
rs770410548
|
0.00003
|
NM_001005373.4(LRSAM1):c.546C>T (p.Ala182=)
|
rs956107977
|
0.00003
|
NM_001005373.4(LRSAM1):c.619+11G>A
|
rs370502826
|
0.00003
|
NM_001005373.4(LRSAM1):c.684C>T (p.Ile228=)
|
rs376671005
|
0.00003
|
NM_001005373.4(LRSAM1):c.804C>T (p.Leu268=)
|
rs771510127
|
0.00003
|
NM_001005373.4(LRSAM1):c.840G>A (p.Glu280=)
|
rs199947399
|
0.00003
|
NM_001005373.4(LRSAM1):c.903+11C>T
|
rs368796469
|
0.00003
|
NM_001122955.4(BSCL2):c.1235-6G>A
|
rs762484263
|
0.00003
|
NM_001122955.4(BSCL2):c.333C>T (p.Phe111=)
|
rs142016433
|
0.00003
|
NM_001122955.4(BSCL2):c.532C>G (p.Leu178Val)
|
rs760613992
|
0.00003
|
NM_001122955.4(BSCL2):c.621T>C (p.Ser207=)
|
rs777598096
|
0.00003
|
NM_001122955.4(BSCL2):c.786G>A (p.Ala262=)
|
rs780533531
|
0.00003
|
NM_001303256.3(MORC2):c.1230T>G (p.Val410=)
|
rs141503284
|
0.00003
|
NM_001303256.3(MORC2):c.1370-19A>G
|
rs764688244
|
0.00003
|
NM_001303256.3(MORC2):c.1668G>A (p.Thr556=)
|
rs759248549
|
0.00003
|
NM_001303256.3(MORC2):c.2193+7C>T
|
rs773059480
|
0.00003
|
NM_001303256.3(MORC2):c.2232T>C (p.Asp744=)
|
rs775654284
|
0.00003
|
NM_001303256.3(MORC2):c.227-15T>C
|
rs545157205
|
0.00003
|
NM_001303256.3(MORC2):c.227-9C>T
|
rs1210127794
|
0.00003
|
NM_001303256.3(MORC2):c.2604C>T (p.Gly868=)
|
rs146132479
|
0.00003
|
NM_001303256.3(MORC2):c.2678G>A (p.Arg893His)
|
rs202243108
|
0.00003
|
NM_001303256.3(MORC2):c.2970G>A (p.Thr990=)
|
rs781327828
|
0.00003
|
NM_001303256.3(MORC2):c.3030+7C>T
|
rs766942597
|
0.00003
|
NM_001303256.3(MORC2):c.342T>C (p.Asp114=)
|
rs770837363
|
0.00003
|
NM_001303256.3(MORC2):c.51A>G (p.Glu17=)
|
rs1002524412
|
0.00003
|
NM_001303256.3(MORC2):c.587-20A>G
|
rs1270306271
|
0.00003
|
NM_001303256.3(MORC2):c.732C>T (p.Ala244=)
|
rs371351399
|
0.00003
|
NM_001365951.3(KIF1B):c.107-16C>T
|
rs1377538951
|
0.00003
|
NM_001365951.3(KIF1B):c.1122G>A (p.Glu374=)
|
rs774770887
|
0.00003
|
NM_001365951.3(KIF1B):c.156C>T (p.Phe52=)
|
rs764651787
|
0.00003
|
NM_001365951.3(KIF1B):c.1867C>T (p.Arg623Cys)
|
rs150271500
|
0.00003
|
NM_001365951.3(KIF1B):c.2042+15C>T
|
rs757127158
|
0.00003
|
NM_001365951.3(KIF1B):c.2209+18A>G
|
rs753756818
|
0.00003
|
NM_001365951.3(KIF1B):c.2244A>G (p.Gln748=)
|
rs760262161
|
0.00003
|
NM_001365951.3(KIF1B):c.2310C>T (p.Ala770=)
|
rs749823391
|
0.00003
|
NM_001365951.3(KIF1B):c.246C>T (p.Leu82=)
|
rs778486443
|
0.00003
|
NM_001365951.3(KIF1B):c.2610C>T (p.Ser870=)
|
rs775697231
|
0.00003
|
NM_001365951.3(KIF1B):c.2691C>T (p.His897=)
|
rs566526002
|
0.00003
|
NM_001365951.3(KIF1B):c.2715C>T (p.Ala905=)
|
rs143046587
|
0.00003
|
NM_001365951.3(KIF1B):c.2826C>T (p.Asp942=)
|
rs567493863
|
0.00003
|
NM_001365951.3(KIF1B):c.291G>A (p.Gly97=)
|
rs1047035874
|
0.00003
|
NM_001365951.3(KIF1B):c.3129+11G>T
|
rs201224213
|
0.00003
|
NM_001365951.3(KIF1B):c.3245G>A (p.Arg1082Gln)
|
rs745363423
|
0.00003
|
NM_001365951.3(KIF1B):c.3612G>T (p.Leu1204=)
|
rs759149212
|
0.00003
|
NM_001365951.3(KIF1B):c.3688+11G>A
|
rs535695625
|
0.00003
|
NM_001365951.3(KIF1B):c.429+12C>T
|
rs112261441
|
0.00003
|
NM_001365951.3(KIF1B):c.430-5C>T
|
rs372491552
|
0.00003
|
NM_001365951.3(KIF1B):c.4527C>T (p.Arg1509=)
|
rs746940453
|
0.00003
|
NM_001365951.3(KIF1B):c.4803C>T (p.His1601=)
|
rs780621329
|
0.00003
|
NM_001365951.3(KIF1B):c.4809C>T (p.Ser1603=)
|
rs749686737
|
0.00003
|
NM_001365951.3(KIF1B):c.4824+10T>C
|
rs964671366
|
0.00003
|
NM_001365951.3(KIF1B):c.5096+10A>G
|
rs368859097
|
0.00003
|
NM_001365951.3(KIF1B):c.5235T>C (p.Ile1745=)
|
rs144362636
|
0.00003
|
NM_001365951.3(KIF1B):c.5442G>A (p.Ser1814=)
|
rs188387287
|
0.00003
|
NM_001365951.3(KIF1B):c.799-11A>G
|
rs774876064
|
0.00003
|
NM_001376.5(DYNC1H1):c.10212C>T (p.Asp3404=)
|
rs371853975
|
0.00003
|
NM_001376.5(DYNC1H1):c.10401T>A (p.Ala3467=)
|
rs184264124
|
0.00003
|
NM_001376.5(DYNC1H1):c.10413+9A>G
|
rs780524758
|
0.00003
|
NM_001376.5(DYNC1H1):c.1044G>A (p.Thr348=)
|
rs144254264
|
0.00003
|
NM_001376.5(DYNC1H1):c.10536G>A (p.Ala3512=)
|
rs1060504512
|
0.00003
|
NM_001376.5(DYNC1H1):c.10548C>T (p.Tyr3516=)
|
rs760532492
|
0.00003
|
NM_001376.5(DYNC1H1):c.1062A>G (p.Arg354=)
|
rs373317658
|
0.00003
|
NM_001376.5(DYNC1H1):c.10752T>C (p.Asn3584=)
|
rs181445947
|
0.00003
|
NM_001376.5(DYNC1H1):c.10754+15G>A
|
rs373303152
|
0.00003
|
NM_001376.5(DYNC1H1):c.1086A>G (p.Thr362=)
|
rs17540728
|
0.00003
|
NM_001376.5(DYNC1H1):c.11361G>A (p.Thr3787=)
|
rs145320071
|
0.00003
|
NM_001376.5(DYNC1H1):c.11497C>T (p.Leu3833=)
|
rs200735835
|
0.00003
|
NM_001376.5(DYNC1H1):c.11503A>G (p.Ile3835Val)
|
rs148513391
|
0.00003
|
NM_001376.5(DYNC1H1):c.11690+14C>T
|
rs762481812
|
0.00003
|
NM_001376.5(DYNC1H1):c.11755G>C (p.Gly3919Arg)
|
rs1332271433
|
0.00003
|
NM_001376.5(DYNC1H1):c.11796G>A (p.Ala3932=)
|
rs546925321
|
0.00003
|
NM_001376.5(DYNC1H1):c.11826C>T (p.Pro3942=)
|
rs372407438
|
0.00003
|
NM_001376.5(DYNC1H1):c.12072G>A (p.Pro4024=)
|
rs537688769
|
0.00003
|
NM_001376.5(DYNC1H1):c.12103-9T>C
|
rs939623360
|
0.00003
|
NM_001376.5(DYNC1H1):c.12180C>T (p.Ala4060=)
|
rs754694929
|
0.00003
|
NM_001376.5(DYNC1H1):c.12214+18G>A
|
rs190343016
|
0.00003
|
NM_001376.5(DYNC1H1):c.12276-19T>G
|
rs372304898
|
0.00003
|
NM_001376.5(DYNC1H1):c.12354G>A (p.Pro4118=)
|
rs143574214
|
0.00003
|
NM_001376.5(DYNC1H1):c.12400-15G>A
|
rs376286033
|
0.00003
|
NM_001376.5(DYNC1H1):c.12441C>T (p.Phe4147=)
|
rs146075696
|
0.00003
|
NM_001376.5(DYNC1H1):c.12496G>A (p.Val4166Ile)
|
rs202107738
|
0.00003
|
NM_001376.5(DYNC1H1):c.12580T>C (p.Leu4194=)
|
rs753248251
|
0.00003
|
NM_001376.5(DYNC1H1):c.12584G>A (p.Arg4195Gln)
|
rs140013253
|
0.00003
|
NM_001376.5(DYNC1H1):c.12594A>T (p.Pro4198=)
|
rs143936619
|
0.00003
|
NM_001376.5(DYNC1H1):c.12654G>A (p.Thr4218=)
|
rs747207435
|
0.00003
|
NM_001376.5(DYNC1H1):c.12745C>G (p.Gln4249Glu)
|
rs757275255
|
0.00003
|
NM_001376.5(DYNC1H1):c.12788G>A (p.Arg4263His)
|
rs762441496
|
0.00003
|
NM_001376.5(DYNC1H1):c.12849G>A (p.Lys4283=)
|
rs751398567
|
0.00003
|
NM_001376.5(DYNC1H1):c.12978C>T (p.Asn4326=)
|
rs146950724
|
0.00003
|
NM_001376.5(DYNC1H1):c.13261G>A (p.Ala4421Thr)
|
rs376492799
|
0.00003
|
NM_001376.5(DYNC1H1):c.13302C>T (p.Val4434=)
|
rs761599389
|
0.00003
|
NM_001376.5(DYNC1H1):c.13314C>T (p.Cys4438=)
|
rs750291750
|
0.00003
|
NM_001376.5(DYNC1H1):c.13651G>A (p.Ala4551Thr)
|
rs145366078
|
0.00003
|
NM_001376.5(DYNC1H1):c.13685-9G>A
|
rs774759609
|
0.00003
|
NM_001376.5(DYNC1H1):c.13752C>T (p.Ala4584=)
|
rs1025961018
|
0.00003
|
NM_001376.5(DYNC1H1):c.13813-11T>C
|
rs371378943
|
0.00003
|
NM_001376.5(DYNC1H1):c.13819T>C (p.Leu4607=)
|
rs1373300653
|
0.00003
|
NM_001376.5(DYNC1H1):c.13867G>A (p.Asp4623Asn)
|
rs750353606
|
0.00003
|
NM_001376.5(DYNC1H1):c.1443C>T (p.Val481=)
|
rs749807887
|
0.00003
|
NM_001376.5(DYNC1H1):c.1461+11C>A
|
rs553724469
|
0.00003
|
NM_001376.5(DYNC1H1):c.1466C>T (p.Thr489Met)
|
rs773725715
|
0.00003
|
NM_001376.5(DYNC1H1):c.1467G>A (p.Thr489=)
|
rs747710142
|
0.00003
|
NM_001376.5(DYNC1H1):c.161C>T (p.Ala54Val)
|
rs772070566
|
0.00003
|
NM_001376.5(DYNC1H1):c.1737C>T (p.Asn579=)
|
rs372447391
|
0.00003
|
NM_001376.5(DYNC1H1):c.1797G>A (p.Gly599=)
|
rs1022735666
|
0.00003
|
NM_001376.5(DYNC1H1):c.1860C>T (p.His620=)
|
rs749887344
|
0.00003
|
NM_001376.5(DYNC1H1):c.1861G>A (p.Asp621Asn)
|
rs755333803
|
0.00003
|
NM_001376.5(DYNC1H1):c.1911C>T (p.His637=)
|
rs376398498
|
0.00003
|
NM_001376.5(DYNC1H1):c.1992G>T (p.Arg664=)
|
rs1158129941
|
0.00003
|
NM_001376.5(DYNC1H1):c.2538+11_2538+12del
|
rs17512061
|
0.00003
|
NM_001376.5(DYNC1H1):c.2624C>T (p.Ser875Leu)
|
rs184868637
|
0.00003
|
NM_001376.5(DYNC1H1):c.2672A>G (p.His891Arg)
|
rs774004189
|
0.00003
|
NM_001376.5(DYNC1H1):c.2719-12C>T
|
rs768052530
|
0.00003
|
NM_001376.5(DYNC1H1):c.2768C>T (p.Thr923Met)
|
rs760518511
|
0.00003
|
NM_001376.5(DYNC1H1):c.3016-17C>T
|
rs372920554
|
0.00003
|
NM_001376.5(DYNC1H1):c.3036G>A (p.Leu1012=)
|
rs200641486
|
0.00003
|
NM_001376.5(DYNC1H1):c.3073C>T (p.Arg1025Trp)
|
rs777387819
|
0.00003
|
NM_001376.5(DYNC1H1):c.3074G>A (p.Arg1025Gln)
|
rs769716075
|
0.00003
|
NM_001376.5(DYNC1H1):c.3333+15C>T
|
rs1362638345
|
0.00003
|
NM_001376.5(DYNC1H1):c.3480G>A (p.Thr1160=)
|
rs776275624
|
0.00003
|
NM_001376.5(DYNC1H1):c.3789G>A (p.Lys1263=)
|
rs1477959986
|
0.00003
|
NM_001376.5(DYNC1H1):c.4263C>T (p.His1421=)
|
rs374828002
|
0.00003
|
NM_001376.5(DYNC1H1):c.457A>G (p.Ile153Val)
|
rs140905741
|
0.00003
|
NM_001376.5(DYNC1H1):c.4722G>A (p.Glu1574=)
|
rs754521119
|
0.00003
|
NM_001376.5(DYNC1H1):c.4866G>A (p.Glu1622=)
|
rs376805489
|
0.00003
|
NM_001376.5(DYNC1H1):c.5166G>T (p.Thr1722=)
|
rs369232191
|
0.00003
|
NM_001376.5(DYNC1H1):c.5197A>G (p.Ile1733Val)
|
rs138287354
|
0.00003
|
NM_001376.5(DYNC1H1):c.5284G>A (p.Val1762Met)
|
rs780345145
|
0.00003
|
NM_001376.5(DYNC1H1):c.5327C>T (p.Ala1776Val)
|
rs201902137
|
0.00003
|
NM_001376.5(DYNC1H1):c.5649C>T (p.Pro1883=)
|
rs780744467
|
0.00003
|
NM_001376.5(DYNC1H1):c.585C>T (p.His195=)
|
rs144882836
|
0.00003
|
NM_001376.5(DYNC1H1):c.5934A>T (p.Ile1978=)
|
rs762808179
|
0.00003
|
NM_001376.5(DYNC1H1):c.5970C>T (p.Tyr1990=)
|
rs751526144
|
0.00003
|
NM_001376.5(DYNC1H1):c.5978-19G>A
|
rs775189379
|
0.00003
|
NM_001376.5(DYNC1H1):c.6132C>T (p.Pro2044=)
|
rs767258854
|
0.00003
|
NM_001376.5(DYNC1H1):c.6180C>T (p.Arg2060=)
|
rs758504650
|
0.00003
|
NM_001376.5(DYNC1H1):c.6213G>A (p.Pro2071=)
|
rs367868632
|
0.00003
|
NM_001376.5(DYNC1H1):c.6228C>T (p.Cys2076=)
|
rs201113072
|
0.00003
|
NM_001376.5(DYNC1H1):c.6327G>A (p.Gln2109=)
|
rs746758122
|
0.00003
|
NM_001376.5(DYNC1H1):c.6421G>A (p.Val2141Ile)
|
rs765613848
|
0.00003
|
NM_001376.5(DYNC1H1):c.6678G>T (p.Ser2226=)
|
rs141898156
|
0.00003
|
NM_001376.5(DYNC1H1):c.6847G>A (p.Val2283Met)
|
rs374569905
|
0.00003
|
NM_001376.5(DYNC1H1):c.6870C>T (p.Ser2290=)
|
rs768991876
|
0.00003
|
NM_001376.5(DYNC1H1):c.7207G>A (p.Asp2403Asn)
|
rs755668441
|
0.00003
|
NM_001376.5(DYNC1H1):c.7284G>A (p.Thr2428=)
|
rs762065704
|
0.00003
|
NM_001376.5(DYNC1H1):c.7569C>T (p.Thr2523=)
|
rs551938682
|
0.00003
|
NM_001376.5(DYNC1H1):c.7615-15C>T
|
rs565554004
|
0.00003
|
NM_001376.5(DYNC1H1):c.7626C>T (p.Ser2542=)
|
rs200589320
|
0.00003
|
NM_001376.5(DYNC1H1):c.7821C>T (p.Ser2607=)
|
rs375547282
|
0.00003
|
NM_001376.5(DYNC1H1):c.7848+17G>A
|
rs374043245
|
0.00003
|
NM_001376.5(DYNC1H1):c.7896G>A (p.Leu2632=)
|
rs17512467
|
0.00003
|
NM_001376.5(DYNC1H1):c.8097A>G (p.Thr2699=)
|
rs772002773
|
0.00003
|
NM_001376.5(DYNC1H1):c.8178-8G>C
|
rs758234041
|
0.00003
|
NM_001376.5(DYNC1H1):c.8217G>A (p.Pro2739=)
|
rs138710201
|
0.00003
|
NM_001376.5(DYNC1H1):c.8292G>A (p.Thr2764=)
|
rs376429387
|
0.00003
|
NM_001376.5(DYNC1H1):c.8427G>A (p.Ala2809=)
|
rs534435923
|
0.00003
|
NM_001376.5(DYNC1H1):c.8530C>T (p.Arg2844Cys)
|
rs751668595
|
0.00003
|
NM_001376.5(DYNC1H1):c.8772-12G>A
|
rs368192451
|
0.00003
|
NM_001376.5(DYNC1H1):c.9049-17A>G
|
rs202002525
|
0.00003
|
NM_001376.5(DYNC1H1):c.9049-19G>T
|
rs369055747
|
0.00003
|
NM_001376.5(DYNC1H1):c.9189C>T (p.His3063=)
|
rs373124911
|
0.00003
|
NM_001376.5(DYNC1H1):c.9300A>G (p.Glu3100=)
|
rs148753855
|
0.00003
|
NM_001376.5(DYNC1H1):c.939C>T (p.Thr313=)
|
rs572233805
|
0.00003
|
NM_001540.5(HSPB1):c.225C>G (p.Arg75=)
|
rs535398122
|
0.00003
|
NM_001540.5(HSPB1):c.243C>T (p.Leu81=)
|
rs1478776061
|
0.00003
|
NM_001540.5(HSPB1):c.333C>A (p.Val111=)
|
rs1240082057
|
0.00003
|
NM_001540.5(HSPB1):c.364+10C>A
|
rs577343607
|
0.00003
|
NM_001605.3(AARS1):c.1060G>A (p.Val354Ile)
|
rs762395098
|
0.00003
|
NM_001605.3(AARS1):c.1219C>A (p.Pro407Thr)
|
rs139618202
|
0.00003
|
NM_001605.3(AARS1):c.1223-15C>T
|
rs375993139
|
0.00003
|
NM_001605.3(AARS1):c.1275T>C (p.Thr425=)
|
rs750552137
|
0.00003
|
NM_001605.3(AARS1):c.1481G>T (p.Ser494Ile)
|
rs771059047
|
0.00003
|
NM_001605.3(AARS1):c.1689G>A (p.Val563=)
|
rs536370318
|
0.00003
|
NM_001605.3(AARS1):c.2053G>A (p.Val685Met)
|
rs531257362
|
0.00003
|
NM_001605.3(AARS1):c.2088C>T (p.Val696=)
|
rs761976449
|
0.00003
|
NM_001605.3(AARS1):c.2193G>C (p.Ser731=)
|
rs746349849
|
0.00003
|
NM_001605.3(AARS1):c.2306G>C (p.Ser769Thr)
|
rs377051192
|
0.00003
|
NM_001605.3(AARS1):c.2485T>C (p.Leu829=)
|
rs760816488
|
0.00003
|
NM_001605.3(AARS1):c.2532G>A (p.Lys844=)
|
rs371712914
|
0.00003
|
NM_001605.3(AARS1):c.2722-12C>T
|
rs781277357
|
0.00003
|
NM_001605.3(AARS1):c.2732A>G (p.Asn911Ser)
|
rs746822330
|
0.00003
|
NM_001605.3(AARS1):c.518A>G (p.Asp173Gly)
|
rs765398055
|
0.00003
|
NM_001605.3(AARS1):c.846A>G (p.Lys282=)
|
rs561670727
|
0.00003
|
NM_001605.3(AARS1):c.894G>A (p.Leu298=)
|
rs776027503
|
0.00003
|
NM_002047.4(GARS1):c.1032-14G>A
|
rs766263055
|
0.00003
|
NM_002047.4(GARS1):c.1123T>C (p.Leu375=)
|
rs544280407
|
0.00003
|
NM_002047.4(GARS1):c.1341A>G (p.Ala447=)
|
rs765984852
|
0.00003
|
NM_002047.4(GARS1):c.144C>T (p.Ala48=)
|
rs754360926
|
0.00003
|
NM_002047.4(GARS1):c.1467+11T>C
|
rs749590948
|
0.00003
|
NM_002047.4(GARS1):c.1700-13A>G
|
rs762966640
|
0.00003
|
NM_002047.4(GARS1):c.1737C>T (p.Phe579=)
|
rs752464405
|
0.00003
|
NM_002047.4(GARS1):c.174G>A (p.Ala58=)
|
rs747227947
|
0.00003
|
NM_002047.4(GARS1):c.1903+14A>G
|
rs971063119
|
0.00003
|
NM_002047.4(GARS1):c.1921C>T (p.His641Tyr)
|
rs191270471
|
0.00003
|
NM_002047.4(GARS1):c.1929A>G (p.Val643=)
|
rs376451704
|
0.00003
|
NM_002047.4(GARS1):c.1944C>T (p.Asp648=)
|
rs558863933
|
0.00003
|
NM_002047.4(GARS1):c.45T>G (p.Ala15=)
|
rs985496696
|
0.00003
|
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro)
|
rs756664556
|
0.00003
|
NM_002047.4(GARS1):c.69G>A (p.Arg23=)
|
rs762624758
|
0.00003
|
NM_002047.4(GARS1):c.787G>A (p.Val263Ile)
|
rs77518956
|
0.00003
|
NM_002047.4(GARS1):c.882-4A>G
|
rs778219649
|
0.00003
|
NM_002047.4(GARS1):c.90C>T (p.Leu30=)
|
rs1057519166
|
0.00003
|
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=)
|
rs779452908
|
0.00003
|
NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=)
|
rs529978266
|
0.00003
|
NM_002180.3(IGHMBP2):c.1235+7C>T
|
rs776813722
|
0.00003
|
NM_002180.3(IGHMBP2):c.1236-6G>A
|
rs201538340
|
0.00003
|
NM_002180.3(IGHMBP2):c.1418+12G>A
|
rs946450534
|
0.00003
|
NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=)
|
rs780440710
|
0.00003
|
NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=)
|
rs748530497
|
0.00003
|
NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=)
|
rs769397483
|
0.00003
|
NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=)
|
rs188719450
|
0.00003
|
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=)
|
rs762291036
|
0.00003
|
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=)
|
rs187924099
|
0.00003
|
NM_002180.3(IGHMBP2):c.257-10G>C
|
rs1215129512
|
0.00003
|
NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=)
|
rs753346884
|
0.00003
|
NM_002180.3(IGHMBP2):c.449+17G>A
|
rs146594265
|
0.00003
|
NM_002180.3(IGHMBP2):c.548-19G>A
|
rs1052895374
|
0.00003
|
NM_002180.3(IGHMBP2):c.711+8G>A
|
rs1403938196
|
0.00003
|
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=)
|
rs770943023
|
0.00003
|
NM_004637.6(RAB7A):c.400-15T>G
|
rs1456893774
|
0.00003
|
NM_004637.6(RAB7A):c.503C>T (p.Thr168Met)
|
rs141978327
|
0.00003
|
NM_004637.6(RAB7A):c.54-17T>C
|
rs1057523037
|
0.00003
|
NM_004637.6(RAB7A):c.551A>G (p.Asn184Ser)
|
rs752824265
|
0.00003
|
NM_004990.4(MARS1):c.1294-19C>G
|
rs368800423
|
0.00003
|
NM_004990.4(MARS1):c.1294-4G>A
|
rs555920823
|
0.00003
|
NM_004990.4(MARS1):c.1369-14C>T
|
rs759180013
|
0.00003
|
NM_004990.4(MARS1):c.1488C>T (p.Thr496=)
|
rs997411162
|
0.00003
|
NM_004990.4(MARS1):c.1914G>A (p.Leu638=)
|
rs367626488
|
0.00003
|
NM_004990.4(MARS1):c.1968-20C>T
|
rs781708212
|
0.00003
|
NM_004990.4(MARS1):c.2163G>C (p.Val721=)
|
rs762587995
|
0.00003
|
NM_004990.4(MARS1):c.2277C>T (p.Tyr759=)
|
rs377546356
|
0.00003
|
NM_004990.4(MARS1):c.2619G>C (p.Val873=)
|
rs762100988
|
0.00003
|
NM_004990.4(MARS1):c.415-14T>G
|
rs757245078
|
0.00003
|
NM_006158.5(NEFL):c.1006C>G (p.Leu336Val)
|
rs551896980
|
0.00003
|
NM_006158.5(NEFL):c.1044+15G>C
|
rs930571610
|
0.00003
|
NM_006158.5(NEFL):c.1080C>T (p.Thr360=)
|
rs760765563
|
0.00003
|
NM_006158.5(NEFL):c.564C>G (p.Ala188=)
|
rs1457926450
|
0.00003
|
NM_014365.3(HSPB8):c.255C>T (p.Gly85=)
|
rs535698657
|
0.00003
|
NM_014365.3(HSPB8):c.431+19T>C
|
rs549655856
|
0.00003
|
NM_014365.3(HSPB8):c.432-15G>A
|
rs771637294
|
0.00003
|
NM_014365.3(HSPB8):c.534A>G (p.Gly178=)
|
rs756610498
|
0.00003
|
NM_014365.3(HSPB8):c.553G>A (p.Glu185Lys)
|
rs774648716
|
0.00003
|
NM_014874.4(MFN2):c.1113G>A (p.Ala371=)
|
rs766570486
|
0.00003
|
NM_014874.4(MFN2):c.1146G>A (p.Ala382=)
|
rs752630853
|
0.00003
|
NM_014874.4(MFN2):c.1269G>A (p.Thr423=)
|
rs145994616
|
0.00003
|
NM_014874.4(MFN2):c.1818C>T (p.Gly606=)
|
rs373843969
|
0.00003
|
NM_014874.4(MFN2):c.204C>T (p.Pro68=)
|
rs148399574
|
0.00003
|
NM_014874.4(MFN2):c.2145C>T (p.Ala715=)
|
rs571011689
|
0.00003
|
NM_014874.4(MFN2):c.231C>T (p.Asp77=)
|
rs763489927
|
0.00003
|
NM_014874.4(MFN2):c.33C>T (p.Ile11=)
|
rs756450319
|
0.00003
|
NM_014874.4(MFN2):c.522T>C (p.His174=)
|
rs762789747
|
0.00003
|
NM_014874.4(MFN2):c.599+19C>T
|
rs1460126334
|
0.00003
|
NM_014874.4(MFN2):c.822G>A (p.Arg274=)
|
rs528330690
|
0.00003
|
NM_014874.4(MFN2):c.933C>T (p.Asn311=)
|
rs150857365
|
0.00003
|
NM_015271.5(TRIM2):c.1044C>T (p.Thr348=)
|
rs199866418
|
0.00003
|
NM_015271.5(TRIM2):c.1083G>T (p.Gly361=)
|
rs779795369
|
0.00003
|
NM_015271.5(TRIM2):c.1084C>T (p.Leu362=)
|
rs368065626
|
0.00003
|
NM_015271.5(TRIM2):c.1086G>A (p.Leu362=)
|
rs746949607
|
0.00003
|
NM_015271.5(TRIM2):c.1206C>T (p.Ser402=)
|
rs770558554
|
0.00003
|
NM_015271.5(TRIM2):c.1740T>C (p.Asp580=)
|
rs756285274
|
0.00003
|
NM_015271.5(TRIM2):c.762G>A (p.Glu254=)
|
rs199678533
|
0.00003
|
NM_015271.5(TRIM2):c.858G>A (p.Ala286=)
|
rs770000289
|
0.00003
|
NM_015271.5(TRIM2):c.987C>T (p.Ile329=)
|
rs775525143
|
0.00003
|
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=)
|
rs750086412
|
0.00003
|
NM_021625.5(TRPV4):c.1104C>T (p.Asn368=)
|
rs768593770
|
0.00003
|
NM_021625.5(TRPV4):c.1152+10C>T
|
rs766655934
|
0.00003
|
NM_021625.5(TRPV4):c.1281T>C (p.Cys427=)
|
rs577991131
|
0.00003
|
NM_021625.5(TRPV4):c.1392C>T (p.Arg464=)
|
rs182609216
|
0.00003
|
NM_021625.5(TRPV4):c.1422C>T (p.Asn474=)
|
rs140533102
|
0.00003
|
NM_021625.5(TRPV4):c.1431C>T (p.Ser477=)
|
rs567786988
|
0.00003
|
NM_021625.5(TRPV4):c.153G>A (p.Pro51=)
|
rs577306678
|
0.00003
|
NM_021625.5(TRPV4):c.1584+15C>T
|
rs373233900
|
0.00003
|
NM_021625.5(TRPV4):c.1584+18G>A
|
rs10850750
|
0.00003
|
NM_021625.5(TRPV4):c.1659-11C>T
|
rs1020641928
|
0.00003
|
NM_021625.5(TRPV4):c.1797G>A (p.Thr599=)
|
rs747018354
|
0.00003
|
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=)
|
rs757493897
|
0.00003
|
NM_021625.5(TRPV4):c.1989C>T (p.Ser663=)
|
rs778560334
|
0.00003
|
NM_021625.5(TRPV4):c.2010C>T (p.Leu670=)
|
rs755755753
|
0.00003
|
NM_021625.5(TRPV4):c.2125C>T (p.Leu709=)
|
rs116571438
|
0.00003
|
NM_021625.5(TRPV4):c.2604C>T (p.Asp868=)
|
rs111598467
|
0.00003
|
NM_021625.5(TRPV4):c.36C>T (p.Pro12=)
|
rs550200361
|
0.00003
|
NM_021625.5(TRPV4):c.465T>C (p.Phe155=)
|
rs776500475
|
0.00003
|
NM_021625.5(TRPV4):c.471C>T (p.Ile157=)
|
rs368606075
|
0.00003
|
NM_021625.5(TRPV4):c.903C>G (p.Val301=)
|
rs748103823
|
0.00003
|
NM_030973.4(MED25):c.1296C>T (p.Tyr432=)
|
rs761268819
|
0.00003
|
NM_030973.4(MED25):c.1323G>A (p.Thr441=)
|
rs1260985989
|
0.00003
|
NM_030973.4(MED25):c.1335C>T (p.Pro445=)
|
rs372191174
|
0.00003
|
NM_030973.4(MED25):c.1482+14A>G
|
rs529934938
|
0.00003
|
NM_030973.4(MED25):c.1593C>T (p.Ser531=)
|
rs774774157
|
0.00003
|
NM_030973.4(MED25):c.1764G>A (p.Pro588=)
|
rs758729127
|
0.00003
|
NM_030973.4(MED25):c.181-7C>T
|
rs1640511
|
0.00003
|
NM_030973.4(MED25):c.1966-12G>C
|
rs754403001
|
0.00003
|
NM_030973.4(MED25):c.1998C>T (p.Ser666=)
|
rs774172228
|
0.00003
|
NM_030973.4(MED25):c.2193G>A (p.Pro731=)
|
rs374361800
|
0.00003
|
NM_030973.4(MED25):c.228C>T (p.Cys76=)
|
rs770196362
|
0.00003
|
NM_030973.4(MED25):c.405-20T>A
|
rs368800052
|
0.00003
|
NM_030973.4(MED25):c.526-17C>T
|
rs753299152
|
0.00003
|
NM_030973.4(MED25):c.600C>T (p.Pro200=)
|
rs753910880
|
0.00003
|
NM_030973.4(MED25):c.678C>T (p.Leu226=)
|
rs770604129
|
0.00003
|
NM_030973.4(MED25):c.689-11C>T
|
rs767365955
|
0.00003
|
NM_030973.4(MED25):c.750C>T (p.Ala250=)
|
rs1397405011
|
0.00003
|
NM_030973.4(MED25):c.771C>T (p.Leu257=)
|
rs201142674
|
0.00003
|
NM_030973.4(MED25):c.820-10C>T
|
rs1026511672
|
0.00003
|
NM_170707.4(LMNA):c.1157+18C>T
|
rs372021174
|
0.00003
|
NM_170707.4(LMNA):c.1227A>G (p.Thr409=)
|
rs762130433
|
0.00003
|
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)
|
rs755686359
|
0.00003
|
NM_170707.4(LMNA):c.1311C>T (p.Ser437=)
|
rs763224059
|
0.00003
|
NM_170707.4(LMNA):c.1317C>A (p.Arg439=)
|
rs374804871
|
0.00003
|
NM_170707.4(LMNA):c.1380+13T>C
|
rs1474649629
|
0.00003
|
NM_170707.4(LMNA):c.1380+18G>A
|
rs777846700
|
0.00003
|
NM_170707.4(LMNA):c.1381-13A>G
|
rs750192865
|
0.00003
|
NM_170707.4(LMNA):c.1489-9C>T
|
rs374324602
|
0.00003
|
NM_170707.4(LMNA):c.1608+16C>T
|
rs562321948
|
0.00003
|
NM_170707.4(LMNA):c.1699-7T>C
|
rs771074100
|
0.00003
|
NM_170707.4(LMNA):c.1746C>T (p.Arg582=)
|
rs764561834
|
0.00003
|
NM_170707.4(LMNA):c.1908C>T (p.Ser636=)
|
rs80356814
|
0.00003
|
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)
|
rs61578124
|
0.00003
|
NM_170707.4(LMNA):c.78C>T (p.Ile26=)
|
rs373721390
|
0.00003
|
NM_170707.4(LMNA):c.885G>A (p.Ser295=)
|
rs776999079
|
0.00003
|
NM_170707.4(LMNA):c.937-8C>A
|
rs751707982
|
0.00003
|
NM_000263.4(NAGLU):c.1005T>C (p.Tyr335=)
|
rs756871462
|
0.00002
|
NM_000263.4(NAGLU):c.1021+9C>T
|
rs774127914
|
0.00002
|
NM_000263.4(NAGLU):c.1050A>G (p.Gln350=)
|
rs1036664928
|
0.00002
|
NM_000263.4(NAGLU):c.1233G>T (p.Gly411=)
|
rs1412833749
|
0.00002
|
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936
|
0.00002
|
NM_000263.4(NAGLU):c.1488A>G (p.Leu496=)
|
rs752971320
|
0.00002
|
NM_000263.4(NAGLU):c.1638T>C (p.Ser546=)
|
rs901311027
|
0.00002
|
NM_000263.4(NAGLU):c.1821C>T (p.Asp607=)
|
rs750401625
|
0.00002
|
NM_000263.4(NAGLU):c.198C>T (p.Ser66=)
|
rs1208771812
|
0.00002
|
NM_000263.4(NAGLU):c.2004C>T (p.Ala668=)
|
rs1306672947
|
0.00002
|
NM_000263.4(NAGLU):c.2055T>C (p.Ser685=)
|
rs750078603
|
0.00002
|
NM_000263.4(NAGLU):c.366C>G (p.Thr122=)
|
rs769313280
|
0.00002
|
NM_000263.4(NAGLU):c.417C>T (p.Ser139=)
|
rs766199293
|
0.00002
|
NM_000263.4(NAGLU):c.531+12C>T
|
rs989825472
|
0.00002
|
NM_000263.4(NAGLU):c.729T>G (p.Pro243=)
|
rs941869157
|
0.00002
|
NM_000263.4(NAGLU):c.732A>G (p.Ala244=)
|
rs200729468
|
0.00002
|
NM_000263.4(NAGLU):c.764+11G>A
|
rs756517376
|
0.00002
|
NM_000263.4(NAGLU):c.764+17C>T
|
rs749680536
|
0.00002
|
NM_000263.4(NAGLU):c.777G>A (p.Gln259=)
|
rs779208941
|
0.00002
|
NM_001005361.3(DNM2):c.1041A>C (p.Ser347=)
|
rs764163643
|
0.00002
|
NM_001005361.3(DNM2):c.1128+12C>T
|
rs537132157
|
0.00002
|
NM_001005361.3(DNM2):c.1196+677G>A
|
rs763986985
|
0.00002
|
NM_001005361.3(DNM2):c.1423-13C>T
|
rs771343870
|
0.00002
|
NM_001005361.3(DNM2):c.1434G>A (p.Leu478=)
|
rs901295320
|
0.00002
|
NM_001005361.3(DNM2):c.1494-20T>C
|
rs1422154859
|
0.00002
|
NM_001005361.3(DNM2):c.1536C>T (p.Ile512=)
|
rs753490566
|
0.00002
|
NM_001005361.3(DNM2):c.1558-12G>A
|
rs200691041
|
0.00002
|
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=)
|
rs538253489
|
0.00002
|
NM_001005361.3(DNM2):c.1671+14G>A
|
rs767768534
|
0.00002
|
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=)
|
rs767061986
|
0.00002
|
NM_001005361.3(DNM2):c.1873G>A (p.Val625Ile)
|
rs759242886
|
0.00002
|
NM_001005361.3(DNM2):c.1893+19C>A
|
rs1327397775
|
0.00002
|
NM_001005361.3(DNM2):c.2208C>T (p.Ile736=)
|
rs755163979
|
0.00002
|
NM_001005361.3(DNM2):c.2337C>A (p.Gly779=)
|
rs759073717
|
0.00002
|
NM_001005361.3(DNM2):c.2562G>A (p.Ala854=)
|
rs761141093
|
0.00002
|
NM_001005361.3(DNM2):c.525G>A (p.Thr175=)
|
rs748120401
|
0.00002
|
NM_001005361.3(DNM2):c.552C>T (p.Ser184=)
|
rs769028557
|
0.00002
|
NM_001005361.3(DNM2):c.654C>T (p.Asp218=)
|
rs763948283
|
0.00002
|
NM_001005361.3(DNM2):c.678G>A (p.Pro226=)
|
rs746637292
|
0.00002
|
NM_001005361.3(DNM2):c.747T>C (p.Arg249=)
|
rs144331982
|
0.00002
|
NM_001005361.3(DNM2):c.801C>T (p.His267=)
|
rs780755800
|
0.00002
|
NM_001005361.3(DNM2):c.849+20G>A
|
rs995166192
|
0.00002
|
NM_001005361.3(DNM2):c.992+12G>A
|
rs374572993
|
0.00002
|
NM_001005373.4(LRSAM1):c.1044-16A>G
|
rs1455635490
|
0.00002
|
NM_001005373.4(LRSAM1):c.1059C>T (p.Ser353=)
|
rs772067610
|
0.00002
|
NM_001005373.4(LRSAM1):c.1159+13A>T
|
rs756667241
|
0.00002
|
NM_001005373.4(LRSAM1):c.175-18G>A
|
rs752028583
|
0.00002
|
NM_001005373.4(LRSAM1):c.1764C>A (p.Pro588=)
|
rs749407044
|
0.00002
|
NM_001005373.4(LRSAM1):c.1773G>A (p.Ala591=)
|
rs377678883
|
0.00002
|
NM_001005373.4(LRSAM1):c.1830+13C>T
|
rs374449653
|
0.00002
|
NM_001005373.4(LRSAM1):c.253-20C>T
|
rs764243243
|
0.00002
|
NM_001005373.4(LRSAM1):c.406+18G>A
|
rs770365427
|
0.00002
|
NM_001005373.4(LRSAM1):c.513C>T (p.His171=)
|
rs757426906
|
0.00002
|
NM_001005373.4(LRSAM1):c.528+15G>C
|
rs758039190
|
0.00002
|
NM_001005373.4(LRSAM1):c.717G>A (p.Thr239=)
|
rs769930277
|
0.00002
|
NM_001005373.4(LRSAM1):c.904-4del
|
rs757987823
|
0.00002
|
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=)
|
rs766492897
|
0.00002
|
NM_001122955.4(BSCL2):c.404+10G>A
|
rs992580580
|
0.00002
|
NM_001122955.4(BSCL2):c.404+15C>G
|
rs200598473
|
0.00002
|
NM_001122955.4(BSCL2):c.405-20C>T
|
rs778111224
|
0.00002
|
NM_001122955.4(BSCL2):c.420C>T (p.Ser140=)
|
rs780093151
|
0.00002
|
NM_001122955.4(BSCL2):c.645C>T (p.Tyr215=)
|
rs1339749955
|
0.00002
|
NM_001122955.4(BSCL2):c.960G>A (p.Gln320=)
|
rs1158119987
|
0.00002
|
NM_001303256.3(MORC2):c.1038C>T (p.Ala346=)
|
rs199527803
|
0.00002
|
NM_001303256.3(MORC2):c.1344G>A (p.Ala448=)
|
rs781067804
|
0.00002
|
NM_001303256.3(MORC2):c.153T>C (p.Tyr51=)
|
rs566259942
|
0.00002
|
NM_001303256.3(MORC2):c.1813-6T>C
|
rs749182345
|
0.00002
|
NM_001303256.3(MORC2):c.2223A>G (p.Ala741=)
|
rs1467334667
|
0.00002
|
NM_001303256.3(MORC2):c.226+9T>A
|
rs779864060
|
0.00002
|
NM_001303256.3(MORC2):c.2381-7T>C
|
rs754758325
|
0.00002
|
NM_001303256.3(MORC2):c.2394C>T (p.His798=)
|
rs749049290
|
0.00002
|
NM_001303256.3(MORC2):c.2522+11A>C
|
rs774384535
|
0.00002
|
NM_001303256.3(MORC2):c.2522+12A>G
|
rs768556129
|
0.00002
|
NM_001303256.3(MORC2):c.2559A>G (p.Lys853=)
|
rs773690053
|
0.00002
|
NM_001303256.3(MORC2):c.2619G>A (p.Val873=)
|
rs547761745
|
0.00002
|
NM_001303256.3(MORC2):c.261G>A (p.Ser87=)
|
rs768689490
|
0.00002
|
NM_001303256.3(MORC2):c.2709C>T (p.Thr903=)
|
rs141374674
|
0.00002
|
NM_001303256.3(MORC2):c.2841+18T>A
|
rs1260253974
|
0.00002
|
NM_001303256.3(MORC2):c.2928C>T (p.Ser976=)
|
rs376140991
|
0.00002
|
NM_001303256.3(MORC2):c.2964C>T (p.Arg988=)
|
rs769387633
|
0.00002
|
NM_001303256.3(MORC2):c.483T>C (p.Asn161=)
|
rs140735161
|
0.00002
|
NM_001303256.3(MORC2):c.69-19T>G
|
rs1161988445
|
0.00002
|
NM_001303256.3(MORC2):c.905-3C>T
|
rs776944473
|
0.00002
|
NM_001365951.3(KIF1B):c.1329A>G (p.Pro443=)
|
rs775205317
|
0.00002
|
NM_001365951.3(KIF1B):c.1359C>T (p.Gly453=)
|
rs375200009
|
0.00002
|
NM_001365951.3(KIF1B):c.1539A>T (p.Gly513=)
|
rs757451919
|
0.00002
|
NM_001365951.3(KIF1B):c.1782C>T (p.Ile594=)
|
rs774839409
|
0.00002
|
NM_001365951.3(KIF1B):c.1861+9G>A
|
rs1283855085
|
0.00002
|
NM_001365951.3(KIF1B):c.1863A>G (p.Gly621=)
|
rs780368055
|
0.00002
|
NM_001365951.3(KIF1B):c.2209+16C>T
|
rs766409583
|
0.00002
|
NM_001365951.3(KIF1B):c.2359-17T>C
|
rs779473426
|
0.00002
|
NM_001365951.3(KIF1B):c.252C>T (p.His84=)
|
rs757683684
|
0.00002
|
NM_001365951.3(KIF1B):c.2562G>A (p.Glu854=)
|
rs540513129
|
0.00002
|
NM_001365951.3(KIF1B):c.261G>A (p.Glu87=)
|
rs1397014341
|
0.00002
|
NM_001365951.3(KIF1B):c.2676-19C>T
|
rs374305840
|
0.00002
|
NM_001365951.3(KIF1B):c.2775C>T (p.Asp925=)
|
rs773568203
|
0.00002
|
NM_001365951.3(KIF1B):c.2817C>T (p.Phe939=)
|
rs757816359
|
0.00002
|
NM_001365951.3(KIF1B):c.2892C>T (p.Tyr964=)
|
rs986716280
|
0.00002
|
NM_001365951.3(KIF1B):c.2958C>T (p.Pro986=)
|
rs369616673
|
0.00002
|
NM_001365951.3(KIF1B):c.3129+10C>T
|
rs775083594
|
0.00002
|
NM_001365951.3(KIF1B):c.3130-16C>T
|
rs369754732
|
0.00002
|
NM_001365951.3(KIF1B):c.364-15A>G
|
rs771929965
|
0.00002
|
NM_001365951.3(KIF1B):c.3688+16G>A
|
rs146170231
|
0.00002
|
NM_001365951.3(KIF1B):c.3717C>T (p.Ser1239=)
|
rs758483036
|
0.00002
|
NM_001365951.3(KIF1B):c.3756C>A (p.Leu1252=)
|
rs1341773631
|
0.00002
|
NM_001365951.3(KIF1B):c.3864+12G>T
|
rs915372130
|
0.00002
|
NM_001365951.3(KIF1B):c.3936T>C (p.Arg1312=)
|
rs754332251
|
0.00002
|
NM_001365951.3(KIF1B):c.393T>C (p.Asn131=)
|
rs763247738
|
0.00002
|
NM_001365951.3(KIF1B):c.4298C>T (p.Pro1433Leu)
|
rs552529704
|
0.00002
|
NM_001365951.3(KIF1B):c.430-13A>T
|
rs758600090
|
0.00002
|
NM_001365951.3(KIF1B):c.4326C>T (p.Tyr1442=)
|
rs745549781
|
0.00002
|
NM_001365951.3(KIF1B):c.4366+9T>C
|
rs767356467
|
0.00002
|
NM_001365951.3(KIF1B):c.4512+15_4512+16insT
|
rs757288188
|
0.00002
|
NM_001365951.3(KIF1B):c.4653C>T (p.Thr1551=)
|
rs778651184
|
0.00002
|
NM_001365951.3(KIF1B):c.4683C>T (p.Ser1561=)
|
rs751084365
|
0.00002
|
NM_001365951.3(KIF1B):c.4722G>A (p.Leu1574=)
|
rs1417200734
|
0.00002
|
NM_001365951.3(KIF1B):c.4947-11C>G
|
rs761028018
|
0.00002
|
NM_001365951.3(KIF1B):c.5028A>G (p.Pro1676=)
|
rs761529721
|
0.00002
|
NM_001365951.3(KIF1B):c.783A>G (p.Lys261=)
|
rs1648800243
|
0.00002
|
NM_001365951.3(KIF1B):c.858C>T (p.Ala286=)
|
rs371416635
|
0.00002
|
NM_001376.5(DYNC1H1):c.10083C>T (p.Asp3361=)
|
rs772665813
|
0.00002
|
NM_001376.5(DYNC1H1):c.10084G>A (p.Ala3362Thr)
|
rs113879661
|
0.00002
|
NM_001376.5(DYNC1H1):c.10182A>G (p.Lys3394=)
|
rs867202471
|
0.00002
|
NM_001376.5(DYNC1H1):c.10357G>A (p.Val3453Ile)
|
rs778115137
|
0.00002
|
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=)
|
rs763119040
|
0.00002
|
NM_001376.5(DYNC1H1):c.10608A>C (p.Leu3536=)
|
rs1034994263
|
0.00002
|
NM_001376.5(DYNC1H1):c.10833G>C (p.Arg3611=)
|
rs35143882
|
0.00002
|
NM_001376.5(DYNC1H1):c.10995G>A (p.Gly3665=)
|
rs572991122
|
0.00002
|
NM_001376.5(DYNC1H1):c.11022G>A (p.Ser3674=)
|
rs139719984
|
0.00002
|
NM_001376.5(DYNC1H1):c.11056-10A>G
|
rs751676054
|
0.00002
|
NM_001376.5(DYNC1H1):c.1120A>G (p.Ile374Val)
|
rs771355909
|
0.00002
|
NM_001376.5(DYNC1H1):c.11460+7G>A
|
rs1474620810
|
0.00002
|
NM_001376.5(DYNC1H1):c.11461-3C>T
|
rs776752310
|
0.00002
|
NM_001376.5(DYNC1H1):c.11472G>A (p.Leu3824=)
|
rs775618965
|
0.00002
|
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=)
|
rs372511563
|
0.00002
|
NM_001376.5(DYNC1H1):c.11562G>A (p.Gln3854=)
|
rs375751871
|
0.00002
|
NM_001376.5(DYNC1H1):c.11595+20C>T
|
rs753442936
|
0.00002
|
NM_001376.5(DYNC1H1):c.1161C>T (p.Asp387=)
|
rs751249005
|
0.00002
|
NM_001376.5(DYNC1H1):c.11686G>A (p.Val3896Met)
|
rs567629350
|
0.00002
|
NM_001376.5(DYNC1H1):c.11823T>G (p.Leu3941=)
|
rs368243780
|
0.00002
|
NM_001376.5(DYNC1H1):c.11866-4A>T
|
rs766735095
|
0.00002
|
NM_001376.5(DYNC1H1):c.11866-8C>T
|
rs756323151
|
0.00002
|
NM_001376.5(DYNC1H1):c.11942-7G>A
|
rs769654088
|
0.00002
|
NM_001376.5(DYNC1H1):c.12008C>T (p.Ala4003Val)
|
rs1159403427
|
0.00002
|
NM_001376.5(DYNC1H1):c.12047C>G (p.Ser4016Cys)
|
rs370026529
|
0.00002
|
NM_001376.5(DYNC1H1):c.1216T>C (p.Tyr406His)
|
rs201446486
|
0.00002
|
NM_001376.5(DYNC1H1):c.12213C>T (p.Ile4071=)
|
rs746950373
|
0.00002
|
NM_001376.5(DYNC1H1):c.12215-20A>G
|
rs903336384
|
0.00002
|
NM_001376.5(DYNC1H1):c.12275+18G>A
|
rs771521708
|
0.00002
|
NM_001376.5(DYNC1H1):c.12330G>A (p.Glu4110=)
|
rs182070792
|
0.00002
|
NM_001376.5(DYNC1H1):c.12400-16C>T
|
rs541260458
|
0.00002
|
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=)
|
rs749647281
|
0.00002
|
NM_001376.5(DYNC1H1):c.12480G>A (p.Thr4160=)
|
rs531519870
|
0.00002
|
NM_001376.5(DYNC1H1):c.12687C>T (p.Gly4229=)
|
rs994411940
|
0.00002
|
NM_001376.5(DYNC1H1):c.12811C>T (p.Arg4271Cys)
|
rs573730260
|
0.00002
|
NM_001376.5(DYNC1H1):c.12825C>T (p.Thr4275=)
|
rs374230302
|
0.00002
|
NM_001376.5(DYNC1H1):c.12865G>A (p.Asp4289Asn)
|
rs368476290
|
0.00002
|
NM_001376.5(DYNC1H1):c.12902+18G>C
|
rs770358236
|
0.00002
|
NM_001376.5(DYNC1H1):c.12951G>A (p.Thr4317=)
|
rs141273501
|
0.00002
|
NM_001376.5(DYNC1H1):c.13071C>T (p.Tyr4357=)
|
rs763227557
|
0.00002
|
NM_001376.5(DYNC1H1):c.13077G>A (p.Glu4359=)
|
rs186804068
|
0.00002
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609
|
0.00002
|
NM_001376.5(DYNC1H1):c.13091C>T (p.Thr4364Met)
|
rs750890352
|
0.00002
|
NM_001376.5(DYNC1H1):c.13138C>T (p.Leu4380=)
|
rs746916728
|
0.00002
|
NM_001376.5(DYNC1H1):c.13204G>A (p.Val4402Met)
|
rs977186240
|
0.00002
|
NM_001376.5(DYNC1H1):c.13242G>A (p.Glu4414=)
|
rs772150327
|
0.00002
|
NM_001376.5(DYNC1H1):c.13278C>T (p.Asp4426=)
|
rs777098264
|
0.00002
|
NM_001376.5(DYNC1H1):c.13279G>A (p.Val4427Ile)
|
rs573728571
|
0.00002
|
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser)
|
rs199692678
|
0.00002
|
NM_001376.5(DYNC1H1):c.13473C>T (p.Asn4491=)
|
rs749739195
|
0.00002
|
NM_001376.5(DYNC1H1):c.13633G>A (p.Val4545Ile)
|
rs963048075
|
0.00002
|
NM_001376.5(DYNC1H1):c.13685-10C>T
|
rs764347151
|
0.00002
|
NM_001376.5(DYNC1H1):c.13725G>A (p.Leu4575=)
|
rs200002869
|
0.00002
|
NM_001376.5(DYNC1H1):c.13750G>A (p.Ala4584Thr)
|
rs544608488
|
0.00002
|
NM_001376.5(DYNC1H1):c.13813-12C>T
|
rs759037347
|
0.00002
|
NM_001376.5(DYNC1H1):c.13873G>A (p.Glu4625Lys)
|
rs200149883
|
0.00002
|
NM_001376.5(DYNC1H1):c.1390G>A (p.Asp464Asn)
|
rs777919963
|
0.00002
|
NM_001376.5(DYNC1H1):c.1407T>C (p.Phe469=)
|
rs1261638807
|
0.00002
|
NM_001376.5(DYNC1H1):c.1462-11T>C
|
rs537652677
|
0.00002
|
NM_001376.5(DYNC1H1):c.153G>T (p.Ala51=)
|
rs1438924183
|
0.00002
|
NM_001376.5(DYNC1H1):c.1545A>G (p.Ala515=)
|
rs145784659
|
0.00002
|
NM_001376.5(DYNC1H1):c.1929T>C (p.Pro643=)
|
rs1555408339
|
0.00002
|
NM_001376.5(DYNC1H1):c.2029G>A (p.Val677Met)
|
rs563050462
|
0.00002
|
NM_001376.5(DYNC1H1):c.2133C>T (p.Leu711=)
|
rs774360588
|
0.00002
|
NM_001376.5(DYNC1H1):c.2352C>T (p.Ser784=)
|
rs149028205
|
0.00002
|
NM_001376.5(DYNC1H1):c.2374T>G (p.Cys792Gly)
|
rs752495590
|
0.00002
|
NM_001376.5(DYNC1H1):c.2391G>A (p.Glu797=)
|
rs780156927
|
0.00002
|
NM_001376.5(DYNC1H1):c.2487T>C (p.Leu829=)
|
rs1222196177
|
0.00002
|
NM_001376.5(DYNC1H1):c.256+7G>T
|
rs890555539
|
0.00002
|
NM_001376.5(DYNC1H1):c.2769G>A (p.Thr923=)
|
rs766285625
|
0.00002
|
NM_001376.5(DYNC1H1):c.2869-11T>C
|
rs368250311
|
0.00002
|
NM_001376.5(DYNC1H1):c.3033A>G (p.Glu1011=)
|
rs755543897
|
0.00002
|
NM_001376.5(DYNC1H1):c.3414C>T (p.Asn1138=)
|
rs772761222
|
0.00002
|
NM_001376.5(DYNC1H1):c.341A>G (p.Asn114Ser)
|
rs781336672
|
0.00002
|
NM_001376.5(DYNC1H1):c.344+10A>G
|
rs376828239
|
0.00002
|
NM_001376.5(DYNC1H1):c.3759C>T (p.Arg1253=)
|
rs374582145
|
0.00002
|
NM_001376.5(DYNC1H1):c.3876C>T (p.Asp1292=)
|
rs745852574
|
0.00002
|
NM_001376.5(DYNC1H1):c.38C>T (p.Ser13Leu)
|
rs772158466
|
0.00002
|
NM_001376.5(DYNC1H1):c.3960+14G>A
|
rs778908539
|
0.00002
|
NM_001376.5(DYNC1H1):c.3961-5C>T
|
rs759907778
|
0.00002
|
NM_001376.5(DYNC1H1):c.4075-5G>A
|
rs750127672
|
0.00002
|
NM_001376.5(DYNC1H1):c.4185+16C>T
|
rs375613946
|
0.00002
|
NM_001376.5(DYNC1H1):c.4300A>C (p.Ile1434Leu)
|
rs765070068
|
0.00002
|
NM_001376.5(DYNC1H1):c.4317G>A (p.Leu1439=)
|
rs1317025230
|
0.00002
|
NM_001376.5(DYNC1H1):c.4320G>A (p.Gln1440=)
|
rs905719046
|
0.00002
|
NM_001376.5(DYNC1H1):c.4336G>A (p.Val1446Ile)
|
rs367614843
|
0.00002
|
NM_001376.5(DYNC1H1):c.4597C>G (p.Leu1533Val)
|
rs775825001
|
0.00002
|
NM_001376.5(DYNC1H1):c.5050-11A>G
|
rs368217526
|
0.00002
|
NM_001376.5(DYNC1H1):c.5292C>T (p.Thr1764=)
|
rs755482182
|
0.00002
|
NM_001376.5(DYNC1H1):c.5293G>A (p.Ala1765Thr)
|
rs144147463
|
0.00002
|
NM_001376.5(DYNC1H1):c.5317G>A (p.Gly1773Arg)
|
rs1489046941
|
0.00002
|
NM_001376.5(DYNC1H1):c.5520C>A (p.Ser1840Arg)
|
rs577512264
|
0.00002
|
NM_001376.5(DYNC1H1):c.5717-19G>A
|
rs370403241
|
0.00002
|
NM_001376.5(DYNC1H1):c.5817+9C>T
|
rs1044026929
|
0.00002
|
NM_001376.5(DYNC1H1):c.5904C>T (p.Leu1968=)
|
rs770335425
|
0.00002
|
NM_001376.5(DYNC1H1):c.6069G>A (p.Ala2023=)
|
rs536211119
|
0.00002
|
NM_001376.5(DYNC1H1):c.609G>A (p.Pro203=)
|
rs138702876
|
0.00002
|
NM_001376.5(DYNC1H1):c.6207C>T (p.Ile2069=)
|
rs764354743
|
0.00002
|
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=)
|
rs776544497
|
0.00002
|
NM_001376.5(DYNC1H1):c.6406-12C>T
|
rs565676310
|
0.00002
|
NM_001376.5(DYNC1H1):c.6540G>A (p.Glu2180=)
|
rs779821662
|
0.00002
|
NM_001376.5(DYNC1H1):c.6575C>T (p.Thr2192Ile)
|
rs749317390
|
0.00002
|
NM_001376.5(DYNC1H1):c.6704G>A (p.Arg2235His)
|
rs765956720
|
0.00002
|
NM_001376.5(DYNC1H1):c.694T>C (p.Phe232Leu)
|
rs1301539761
|
0.00002
|
NM_001376.5(DYNC1H1):c.7015-5T>C
|
rs547038254
|
0.00002
|
NM_001376.5(DYNC1H1):c.7077C>T (p.Cys2359=)
|
rs200885538
|
0.00002
|
NM_001376.5(DYNC1H1):c.7225G>A (p.Ala2409Thr)
|
rs566204008
|
0.00002
|
NM_001376.5(DYNC1H1):c.7404C>T (p.Asn2468=)
|
rs1221226371
|
0.00002
|
NM_001376.5(DYNC1H1):c.7437C>T (p.Phe2479=)
|
rs757950114
|
0.00002
|
NM_001376.5(DYNC1H1):c.7565C>T (p.Thr2522Met)
|
rs528647293
|
0.00002
|
NM_001376.5(DYNC1H1):c.7566G>A (p.Thr2522=)
|
rs747067301
|
0.00002
|
NM_001376.5(DYNC1H1):c.7592A>G (p.Asn2531Ser)
|
rs763389399
|
0.00002
|
NM_001376.5(DYNC1H1):c.7641G>A (p.Pro2547=)
|
rs772906918
|
0.00002
|
NM_001376.5(DYNC1H1):c.7878T>C (p.Thr2626=)
|
rs753109533
|
0.00002
|
NM_001376.5(DYNC1H1):c.7884A>G (p.Pro2628=)
|
rs797045534
|
0.00002
|
NM_001376.5(DYNC1H1):c.8067C>T (p.His2689=)
|
rs201369840
|
0.00002
|
NM_001376.5(DYNC1H1):c.8224G>A (p.Ala2742Thr)
|
rs773460120
|
0.00002
|
NM_001376.5(DYNC1H1):c.8291C>T (p.Thr2764Met)
|
rs781036111
|
0.00002
|
NM_001376.5(DYNC1H1):c.8401A>C (p.Arg2801=)
|
rs771269792
|
0.00002
|
NM_001376.5(DYNC1H1):c.840C>T (p.Asn280=)
|
rs775490854
|
0.00002
|
NM_001376.5(DYNC1H1):c.8442G>C (p.Glu2814Asp)
|
rs762494017
|
0.00002
|
NM_001376.5(DYNC1H1):c.8531G>A (p.Arg2844His)
|
rs150520534
|
0.00002
|
NM_001376.5(DYNC1H1):c.8629C>T (p.Leu2877=)
|
rs765255102
|
0.00002
|
NM_001376.5(DYNC1H1):c.8703T>C (p.Tyr2901=)
|
rs755411424
|
0.00002
|
NM_001376.5(DYNC1H1):c.8724G>A (p.Pro2908=)
|
rs372672149
|
0.00002
|
NM_001376.5(DYNC1H1):c.8847C>T (p.Phe2949=)
|
rs200720335
|
0.00002
|
NM_001376.5(DYNC1H1):c.8886+19C>G
|
rs774312558
|
0.00002
|
NM_001376.5(DYNC1H1):c.9000A>G (p.Leu3000=)
|
rs754834522
|
0.00002
|
NM_001376.5(DYNC1H1):c.9075G>A (p.Glu3025=)
|
rs777623931
|
0.00002
|
NM_001376.5(DYNC1H1):c.9216G>A (p.Ser3072=)
|
rs752518392
|
0.00002
|
NM_001376.5(DYNC1H1):c.9263+4C>T
|
rs375319205
|
0.00002
|
NM_001376.5(DYNC1H1):c.9264-18C>T
|
rs753936994
|
0.00002
|
NM_001376.5(DYNC1H1):c.9330A>G (p.Thr3110=)
|
rs371538443
|
0.00002
|
NM_001376.5(DYNC1H1):c.9561C>T (p.Phe3187=)
|
rs2048488005
|
0.00002
|
NM_001376.5(DYNC1H1):c.9576C>T (p.Ser3192=)
|
rs374593458
|
0.00002
|
NM_001376.5(DYNC1H1):c.9735A>G (p.Lys3245=)
|
rs1322378389
|
0.00002
|
NM_001376.5(DYNC1H1):c.9763-20A>G
|
rs1315358683
|
0.00002
|
NM_001376.5(DYNC1H1):c.9884-12G>T
|
rs530511763
|
0.00002
|
NM_001540.5(HSPB1):c.138A>G (p.Leu46=)
|
rs757180608
|
0.00002
|
NM_001540.5(HSPB1):c.162C>T (p.Tyr54=)
|
rs770285235
|
0.00002
|
NM_001540.5(HSPB1):c.216C>T (p.Ala72=)
|
rs11547168
|
0.00002
|
NM_001540.5(HSPB1):c.339C>G (p.Thr113=)
|
rs751064405
|
0.00002
|
NM_001540.5(HSPB1):c.351G>A (p.Val117=)
|
rs1279432561
|
0.00002
|
NM_001540.5(HSPB1):c.429-7C>T
|
rs375972376
|
0.00002
|
NM_001540.5(HSPB1):c.498G>A (p.Glu166=)
|
rs148357753
|
0.00002
|
NM_001605.3(AARS1):c.105T>C (p.Asp35=)
|
rs199654875
|
0.00002
|
NM_001605.3(AARS1):c.1074A>T (p.Gly358=)
|
rs1555541137
|
0.00002
|
NM_001605.3(AARS1):c.1704C>T (p.Val568=)
|
rs757658801
|
0.00002
|
NM_001605.3(AARS1):c.2106G>A (p.Pro702=)
|
rs746709009
|
0.00002
|
NM_001605.3(AARS1):c.2178-17T>C
|
rs758490328
|
0.00002
|
NM_001605.3(AARS1):c.2400+8C>T
|
rs113824201
|
0.00002
|
NM_001605.3(AARS1):c.2400+9G>A
|
rs778751578
|
0.00002
|
NM_001605.3(AARS1):c.2505C>T (p.Ala835=)
|
rs769571173
|
0.00002
|
NM_001605.3(AARS1):c.2547C>T (p.Ile849=)
|
rs746615745
|
0.00002
|
NM_001605.3(AARS1):c.2593G>A (p.Gly865Ser)
|
rs757295540
|
0.00002
|
NM_001605.3(AARS1):c.2603C>T (p.Ala868Val)
|
rs759415214
|
0.00002
|
NM_001605.3(AARS1):c.2730C>T (p.Ala910=)
|
rs199839663
|
0.00002
|
NM_001605.3(AARS1):c.333+12G>A
|
rs766942839
|
0.00002
|
NM_001605.3(AARS1):c.333+17A>G
|
rs370831078
|
0.00002
|
NM_001605.3(AARS1):c.360A>G (p.Glu120=)
|
rs1175499706
|
0.00002
|
NM_001605.3(AARS1):c.366C>T (p.Leu122=)
|
rs769023747
|
0.00002
|
NM_001605.3(AARS1):c.417C>T (p.Gly139=)
|
rs758260278
|
0.00002
|
NM_001605.3(AARS1):c.480-18T>C
|
rs748009135
|
0.00002
|
NM_001605.3(AARS1):c.490A>G (p.Thr164Ala)
|
rs757711799
|
0.00002
|
NM_001605.3(AARS1):c.612C>T (p.Val204=)
|
rs1217026810
|
0.00002
|
NM_001605.3(AARS1):c.618G>T (p.Gln206His)
|
rs139785247
|
0.00002
|
NM_001605.3(AARS1):c.667A>G (p.Asn223Asp)
|
rs779199296
|
0.00002
|
NM_001605.3(AARS1):c.671+12T>C
|
rs375862322
|
0.00002
|
NM_001605.3(AARS1):c.732G>A (p.Leu244=)
|
rs967485459
|
0.00002
|
NM_001605.3(AARS1):c.817-7T>C
|
rs770186013
|
0.00002
|
NM_001605.3(AARS1):c.823G>A (p.Gly275Ser)
|
rs747142680
|
0.00002
|
NM_001605.3(AARS1):c.828C>G (p.Ala276=)
|
rs914414911
|
0.00002
|
NM_001605.3(AARS1):c.834A>G (p.Pro278=)
|
rs138977601
|
0.00002
|
NM_001605.3(AARS1):c.837C>T (p.Tyr279=)
|
rs201865481
|
0.00002
|
NM_001605.3(AARS1):c.84G>A (p.Ser28=)
|
rs781488034
|
0.00002
|
NM_001605.3(AARS1):c.95T>C (p.Ile32Thr)
|
rs751721557
|
0.00002
|
NM_002047.4(GARS1):c.1031+9del
|
rs746178135
|
0.00002
|
NM_002047.4(GARS1):c.1140C>G (p.Ala380=)
|
rs374980030
|
0.00002
|
NM_002047.4(GARS1):c.1533T>C (p.Asp511=)
|
rs1388554818
|
0.00002
|
NM_002047.4(GARS1):c.1553A>G (p.Tyr518Cys)
|
rs753947676
|
0.00002
|
NM_002047.4(GARS1):c.1581T>C (p.Ile527=)
|
rs960876782
|
0.00002
|
NM_002047.4(GARS1):c.1903+19G>A
|
rs1051143976
|
0.00002
|
NM_002047.4(GARS1):c.534C>T (p.Ile178=)
|
rs774732829
|
0.00002
|
NM_002047.4(GARS1):c.582T>C (p.His194=)
|
rs753444153
|
0.00002
|
NM_002047.4(GARS1):c.615C>T (p.Asp205=)
|
rs370008019
|
0.00002
|
NM_002047.4(GARS1):c.786T>C (p.Asn262=)
|
rs886043231
|
0.00002
|
NM_002180.3(IGHMBP2):c.1060+11G>A
|
rs761888334
|
0.00002
|
NM_002180.3(IGHMBP2):c.1061-19G>A
|
rs775305272
|
0.00002
|
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=)
|
rs755300047
|
0.00002
|
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=)
|
rs749110357
|
0.00002
|
NM_002180.3(IGHMBP2):c.1197C>T (p.Gly399=)
|
rs377631839
|
0.00002
|
NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=)
|
rs758501779
|
0.00002
|
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser)
|
rs201964221
|
0.00002
|
NM_002180.3(IGHMBP2):c.1538-4C>G
|
rs757915735
|
0.00002
|
NM_002180.3(IGHMBP2):c.1632+13C>T
|
rs759992553
|
0.00002
|
NM_002180.3(IGHMBP2):c.1756+13C>T
|
rs568649635
|
0.00002
|
NM_002180.3(IGHMBP2):c.1756+17A>G
|
rs757390726
|
0.00002
|
NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=)
|
rs1343388202
|
0.00002
|
NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=)
|
rs1235731970
|
0.00002
|
NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=)
|
rs755468547
|
0.00002
|
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val)
|
rs754473710
|
0.00002
|
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn)
|
rs200499838
|
0.00002
|
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=)
|
rs759271458
|
0.00002
|
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=)
|
rs772280279
|
0.00002
|
NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=)
|
rs890113569
|
0.00002
|
NM_002180.3(IGHMBP2):c.639T>C (p.His213=)
|
rs764495455
|
0.00002
|
NM_002180.3(IGHMBP2):c.849T>C (p.Val283=)
|
rs1046845478
|
0.00002
|
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp)
|
rs768231851
|
0.00002
|
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=)
|
rs771900045
|
0.00002
|
NM_004637.6(RAB7A):c.183A>C (p.Ile61=)
|
rs376642691
|
0.00002
|
NM_004637.6(RAB7A):c.504G>A (p.Thr168=)
|
rs929339942
|
0.00002
|
NM_004637.6(RAB7A):c.529-14G>C
|
rs773589267
|
0.00002
|
NM_004637.6(RAB7A):c.6C>G (p.Thr2=)
|
rs1053225393
|
0.00002
|
NM_004990.4(MARS1):c.120C>T (p.Val40=)
|
rs775000494
|
0.00002
|
NM_004990.4(MARS1):c.1479C>A (p.Arg493=)
|
rs148191586
|
0.00002
|
NM_004990.4(MARS1):c.2352C>T (p.Asn784=)
|
rs763208604
|
0.00002
|
NM_004990.4(MARS1):c.2511C>G (p.Ala837=)
|
rs780483586
|
0.00002
|
NM_004990.4(MARS1):c.2557-14C>T
|
rs935467477
|
0.00002
|
NM_004990.4(MARS1):c.280-13C>T
|
rs375281035
|
0.00002
|
NM_004990.4(MARS1):c.664-5T>C
|
rs760927369
|
0.00002
|
NM_004990.4(MARS1):c.66C>T (p.Ala22=)
|
rs200471304
|
0.00002
|
NM_004990.4(MARS1):c.887+12T>G
|
rs1027867373
|
0.00002
|
NM_004990.4(MARS1):c.887+16C>T
|
rs767628528
|
0.00002
|
NM_006158.5(NEFL):c.1011G>A (p.Glu337=)
|
rs761206907
|
0.00002
|
NM_006158.5(NEFL):c.1044+16A>G
|
rs559696196
|
0.00002
|
NM_006158.5(NEFL):c.1045-17T>A
|
rs752885562
|
0.00002
|
NM_006158.5(NEFL):c.1131C>T (p.Asn377=)
|
rs754118787
|
0.00002
|
NM_006158.5(NEFL):c.1169+8T>C
|
rs2117252309
|
0.00002
|
NM_006158.5(NEFL):c.1170-19C>T
|
rs762116919
|
0.00002
|
NM_006158.5(NEFL):c.1261C>A (p.Arg421=)
|
rs191346286
|
0.00002
|
NM_006158.5(NEFL):c.264G>A (p.Thr88=)
|
rs372795557
|
0.00002
|
NM_006158.5(NEFL):c.45G>A (p.Lys15=)
|
rs62636518
|
0.00002
|
NM_006158.5(NEFL):c.492C>G (p.Arg164=)
|
rs1229429321
|
0.00002
|
NM_006158.5(NEFL):c.528G>A (p.Ala176=)
|
rs760320750
|
0.00002
|
NM_006158.5(NEFL):c.984G>T (p.Ala328=)
|
rs759524661
|
0.00002
|
NM_014365.3(HSPB8):c.147C>T (p.Pro49=)
|
rs371236491
|
0.00002
|
NM_014365.3(HSPB8):c.193A>C (p.Arg65=)
|
rs778903217
|
0.00002
|
NM_014365.3(HSPB8):c.228C>T (p.Thr76=)
|
rs764660116
|
0.00002
|
NM_014365.3(HSPB8):c.431+15G>A
|
rs777180667
|
0.00002
|
NM_014874.4(MFN2):c.1288-16C>T
|
rs766048154
|
0.00002
|
NM_014874.4(MFN2):c.1836C>G (p.Ser612=)
|
rs779401482
|
0.00002
|
NM_014874.4(MFN2):c.1873-4G>C
|
rs369338141
|
0.00002
|
NM_014874.4(MFN2):c.1908C>G (p.Leu636=)
|
rs540183905
|
0.00002
|
NM_014874.4(MFN2):c.2016G>A (p.Lys672=)
|
rs187058104
|
0.00002
|
NM_014874.4(MFN2):c.2070-20C>T
|
rs776626503
|
0.00002
|
NM_014874.4(MFN2):c.2204+14G>A
|
rs757577429
|
0.00002
|
NM_014874.4(MFN2):c.311+9T>C
|
rs771439230
|
0.00002
|
NM_014874.4(MFN2):c.333C>T (p.Thr111=)
|
rs376779568
|
0.00002
|
NM_014874.4(MFN2):c.525C>T (p.Ala175=)
|
rs751505990
|
0.00002
|
NM_014874.4(MFN2):c.645G>A (p.Lys215=)
|
rs767693664
|
0.00002
|
NM_014874.4(MFN2):c.696C>G (p.Thr232=)
|
rs769923700
|
0.00002
|
NM_014874.4(MFN2):c.723C>T (p.Phe241=)
|
rs764912025
|
0.00002
|
NM_014874.4(MFN2):c.876G>T (p.Val292=)
|
rs758376405
|
0.00002
|
NM_015271.5(TRIM2):c.1074G>A (p.Thr358=)
|
rs145538082
|
0.00002
|
NM_015271.5(TRIM2):c.1203G>T (p.Gly401=)
|
rs770461206
|
0.00002
|
NM_015271.5(TRIM2):c.1239C>T (p.Asn413=)
|
rs202177942
|
0.00002
|
NM_015271.5(TRIM2):c.1524A>G (p.Arg508=)
|
rs373556833
|
0.00002
|
NM_015271.5(TRIM2):c.1611G>A (p.Val537=)
|
rs140995446
|
0.00002
|
NM_015271.5(TRIM2):c.1767C>T (p.Ser589=)
|
rs767007696
|
0.00002
|
NM_015271.5(TRIM2):c.1797A>G (p.Ser599=)
|
rs747232462
|
0.00002
|
NM_015271.5(TRIM2):c.372C>T (p.Asn124=)
|
rs374222449
|
0.00002
|
NM_015271.5(TRIM2):c.417G>A (p.Ala139=)
|
rs534011584
|
0.00002
|
NM_015271.5(TRIM2):c.507G>A (p.Thr169=)
|
rs945034696
|
0.00002
|
NM_021625.5(TRPV4):c.1116G>A (p.Ser372=)
|
rs369811541
|
0.00002
|
NM_021625.5(TRPV4):c.1332+12G>A
|
rs761558541
|
0.00002
|
NM_021625.5(TRPV4):c.1332+18G>A
|
rs769199876
|
0.00002
|
NM_021625.5(TRPV4):c.1443C>G (p.Ala481=)
|
rs925307171
|
0.00002
|
NM_021625.5(TRPV4):c.1491+18G>A
|
rs773214929
|
0.00002
|
NM_021625.5(TRPV4):c.1551G>A (p.Thr517=)
|
rs754598807
|
0.00002
|
NM_021625.5(TRPV4):c.1566C>G (p.Val522=)
|
rs765724064
|
0.00002
|
NM_021625.5(TRPV4):c.1578C>T (p.Phe526=)
|
rs762257218
|
0.00002
|
NM_021625.5(TRPV4):c.179C>G (p.Pro60Arg)
|
rs763266931
|
0.00002
|
NM_021625.5(TRPV4):c.1892-9C>T
|
rs376975164
|
0.00002
|
NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=)
|
rs373961067
|
0.00002
|
NM_021625.5(TRPV4):c.219C>T (p.Gly73=)
|
rs201523762
|
0.00002
|
NM_021625.5(TRPV4):c.2458+17G>A
|
rs564957514
|
0.00002
|
NM_021625.5(TRPV4):c.2508G>A (p.Ser836=)
|
rs201884175
|
0.00002
|
NM_021625.5(TRPV4):c.2523G>A (p.Val841=)
|
rs757417031
|
0.00002
|
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=)
|
rs548680957
|
0.00002
|
NM_021625.5(TRPV4):c.615C>A (p.Gly205=)
|
rs377729962
|
0.00002
|
NM_021625.5(TRPV4):c.651G>A (p.Ala217=)
|
rs371280831
|
0.00002
|
NM_021625.5(TRPV4):c.771C>T (p.Leu257=)
|
rs778796999
|
0.00002
|
NM_021625.5(TRPV4):c.981G>A (p.Ala327=)
|
rs369752825
|
0.00002
|
NM_030973.4(MED25):c.1086C>T (p.Pro362=)
|
rs780086993
|
0.00002
|
NM_030973.4(MED25):c.1212G>A (p.Gly404=)
|
rs781693362
|
0.00002
|
NM_030973.4(MED25):c.1278A>T (p.Ser426=)
|
rs1235405156
|
0.00002
|
NM_030973.4(MED25):c.1316+8A>G
|
rs749843673
|
0.00002
|
NM_030973.4(MED25):c.1375-15C>T
|
rs769654475
|
0.00002
|
NM_030973.4(MED25):c.180+17C>G
|
rs770514045
|
0.00002
|
NM_030973.4(MED25):c.1875T>A (p.Ala625=)
|
rs745606089
|
0.00002
|
NM_030973.4(MED25):c.1950C>T (p.Leu650=)
|
rs749309483
|
0.00002
|
NM_030973.4(MED25):c.2121A>G (p.Gln707=)
|
rs751694953
|
0.00002
|
NM_030973.4(MED25):c.213C>T (p.Phe71=)
|
rs745454610
|
0.00002
|
NM_030973.4(MED25):c.2147-8C>T
|
rs754555048
|
0.00002
|
NM_030973.4(MED25):c.2163C>T (p.Ser721=)
|
rs749606105
|
0.00002
|
NM_030973.4(MED25):c.305+14C>T
|
rs773627830
|
0.00002
|
NM_030973.4(MED25):c.315C>T (p.Gly105=)
|
rs1441161522
|
0.00002
|
NM_030973.4(MED25):c.405-6T>C
|
rs1053967709
|
0.00002
|
NM_030973.4(MED25):c.525+11C>T
|
rs372375681
|
0.00002
|
NM_030973.4(MED25):c.618G>A (p.Pro206=)
|
rs772693264
|
0.00002
|
NM_030973.4(MED25):c.688+8C>T
|
rs201112045
|
0.00002
|
NM_030973.4(MED25):c.747C>T (p.Pro249=)
|
rs111621037
|
0.00002
|
NM_030973.4(MED25):c.81C>T (p.Asn27=)
|
rs761471079
|
0.00002
|
NM_030973.4(MED25):c.852C>T (p.Ala284=)
|
rs200117024
|
0.00002
|
NM_030973.4(MED25):c.908-6C>A
|
rs1052081280
|
0.00002
|
NM_170707.4(LMNA):c.1038C>T (p.Ala346=)
|
rs1019030652
|
0.00002
|
NM_170707.4(LMNA):c.1047G>A (p.Arg349=)
|
rs147015659
|
0.00002
|
NM_170707.4(LMNA):c.1071C>T (p.Asp357=)
|
rs376875762
|
0.00002
|
NM_170707.4(LMNA):c.1098G>A (p.Lys366=)
|
rs57901307
|
0.00002
|
NM_170707.4(LMNA):c.1158-12C>G
|
rs372934817
|
0.00002
|
NM_170707.4(LMNA):c.1158-46G>A
|
rs556221578
|
0.00002
|
NM_170707.4(LMNA):c.1185G>A (p.Ser395=)
|
rs397517890
|
0.00002
|
NM_170707.4(LMNA):c.1362G>A (p.Leu454=)
|
rs151160622
|
0.00002
|
NM_170707.4(LMNA):c.1608+10C>T
|
rs748917147
|
0.00002
|
NM_170707.4(LMNA):c.1719G>A (p.Ser573=)
|
rs759853354
|
0.00002
|
NM_170707.4(LMNA):c.1755C>T (p.Thr585=)
|
rs545752475
|
0.00002
|
NM_170707.4(LMNA):c.1857T>C (p.Ser619=)
|
rs368581237
|
0.00002
|
NM_170707.4(LMNA):c.514-11C>T
|
rs886045365
|
0.00002
|
NM_170707.4(LMNA):c.579T>C (p.Ala193=)
|
rs749728556
|
0.00002
|
NM_170707.4(LMNA):c.810+12C>T
|
rs746914371
|
0.00002
|
NM_170707.4(LMNA):c.837G>A (p.Glu279=)
|
rs727505198
|
0.00002
|
NM_170707.4(LMNA):c.867C>T (p.His289=)
|
rs780415585
|
0.00002
|
NM_170707.4(LMNA):c.870G>A (p.Glu290=)
|
rs747275587
|
0.00002
|
NM_170707.4(LMNA):c.936+19C>T
|
rs201664413
|
0.00002
|
NM_170707.4(LMNA):c.937-9C>T
|
rs1332011298
|
0.00002
|
NM_170707.4(LMNA):c.96G>A (p.Lys32=)
|
rs775429079
|
0.00002
|
NM_000263.4(NAGLU):c.1022-10C>T
|
rs1314987679
|
0.00001
|
NM_000263.4(NAGLU):c.1022-14C>T
|
rs778712352
|
0.00001
|
NM_000263.4(NAGLU):c.1022-4A>G
|
rs748016637
|
0.00001
|
NM_000263.4(NAGLU):c.1032G>A (p.Glu344=)
|
rs771833491
|
0.00001
|
NM_000263.4(NAGLU):c.105C>T (p.Leu35=)
|
rs954871115
|
0.00001
|
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
|
rs754413995
|
0.00001
|
NM_000263.4(NAGLU):c.1089C>G (p.Pro363=)
|
rs778956418
|
0.00001
|
NM_000263.4(NAGLU):c.1107G>T (p.Val369=)
|
rs1479965895
|
0.00001
|
NM_000263.4(NAGLU):c.1113A>G (p.Gly371=)
|
rs1469438575
|
0.00001
|
NM_000263.4(NAGLU):c.1124G>A (p.Arg375His)
|
rs768600049
|
0.00001
|
NM_000263.4(NAGLU):c.114G>C (p.Arg38=)
|
rs2092906079
|
0.00001
|
NM_000263.4(NAGLU):c.1200G>A (p.Gln400=)
|
rs752682040
|
0.00001
|
NM_000263.4(NAGLU):c.1203C>G (p.Pro401=)
|
rs1264683485
|
0.00001
|
NM_000263.4(NAGLU):c.1254A>T (p.Gly418=)
|
rs374706006
|
0.00001
|
NM_000263.4(NAGLU):c.126A>G (p.Pro42=)
|
rs1463936178
|
0.00001
|
NM_000263.4(NAGLU):c.1278C>T (p.Gly426=)
|
rs1447090076
|
0.00001
|
NM_000263.4(NAGLU):c.1308C>T (p.Ser436=)
|
rs775035658
|
0.00001
|
NM_000263.4(NAGLU):c.1323G>A (p.Thr441=)
|
rs751479777
|
0.00001
|
NM_000263.4(NAGLU):c.1326C>A (p.Gly442=)
|
rs757069066
|
0.00001
|
NM_000263.4(NAGLU):c.1353C>T (p.Asn451=)
|
rs200029453
|
0.00001
|
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
|
rs2092906139
|
0.00001
|
NM_000263.4(NAGLU):c.1368C>T (p.Ser456=)
|
rs762502127
|
0.00001
|
NM_000263.4(NAGLU):c.1437C>T (p.Ala479=)
|
rs752918057
|
0.00001
|
NM_000263.4(NAGLU):c.1443G>A (p.Arg481=)
|
rs2092927319
|
0.00001
|
NM_000263.4(NAGLU):c.144C>T (p.Phe48=)
|
rs104894599
|
0.00001
|
NM_000263.4(NAGLU):c.147C>T (p.Ser49=)
|
rs1312501106
|
0.00001
|
NM_000263.4(NAGLU):c.1548G>A (p.Pro516=)
|
rs1318650686
|
0.00001
|
NM_000263.4(NAGLU):c.159G>A (p.Glu53=)
|
rs910639529
|
0.00001
|
NM_000263.4(NAGLU):c.1605T>C (p.Asp535=)
|
rs1439979743
|
0.00001
|
NM_000263.4(NAGLU):c.1671C>A (p.Arg557=)
|
rs1287450896
|
0.00001
|
NM_000263.4(NAGLU):c.1677C>T (p.Asp559=)
|
rs760741593
|
0.00001
|
NM_000263.4(NAGLU):c.1698G>A (p.Gln566=)
|
rs1175988116
|
0.00001
|
NM_000263.4(NAGLU):c.1701A>G (p.Ala567=)
|
rs535354102
|
0.00001
|
NM_000263.4(NAGLU):c.1722G>A (p.Leu574=)
|
rs1179779613
|
0.00001
|
NM_000263.4(NAGLU):c.1728T>C (p.Tyr576=)
|
rs928665834
|
0.00001
|
NM_000263.4(NAGLU):c.1743C>T (p.Ser581=)
|
rs1410332176
|
0.00001
|
NM_000263.4(NAGLU):c.1746C>T (p.Ala582=)
|
rs1368697056
|
0.00001
|
NM_000263.4(NAGLU):c.1771C>T (p.Leu591=)
|
rs749025581
|
0.00001
|
NM_000263.4(NAGLU):c.1782T>A (p.Ala594=)
|
rs369093233
|
0.00001
|
NM_000263.4(NAGLU):c.180G>A (p.Pro60=)
|
rs1449219265
|
0.00001
|
NM_000263.4(NAGLU):c.1812G>A (p.Pro604=)
|
rs756855449
|
0.00001
|
NM_000263.4(NAGLU):c.18G>C (p.Val6=)
|
rs1599253491
|
0.00001
|
NM_000263.4(NAGLU):c.1959C>T (p.Gly653=)
|
rs2092929981
|
0.00001
|
NM_000263.4(NAGLU):c.1980C>T (p.Asn660=)
|
rs981984204
|
0.00001
|
NM_000263.4(NAGLU):c.1992G>A (p.Ala664=)
|
rs748402226
|
0.00001
|
NM_000263.4(NAGLU):c.1996T>C (p.Leu666=)
|
rs1397893429
|
0.00001
|
NM_000263.4(NAGLU):c.2013C>T (p.Tyr671=)
|
rs934112717
|
0.00001
|
NM_000263.4(NAGLU):c.2016C>T (p.Thr672=)
|
rs1438567691
|
0.00001
|
NM_000263.4(NAGLU):c.207C>T (p.Gly69=)
|
rs1476832275
|
0.00001
|
NM_000263.4(NAGLU):c.210C>T (p.Gly70=)
|
rs1201471385
|
0.00001
|
NM_000263.4(NAGLU):c.2196C>T (p.Leu732=)
|
rs766039758
|
0.00001
|
NM_000263.4(NAGLU):c.228G>A (p.Arg76=)
|
rs1220553522
|
0.00001
|
NM_000263.4(NAGLU):c.231G>C (p.Val77=)
|
rs949225882
|
0.00001
|
NM_000263.4(NAGLU):c.24G>A (p.Ala8=)
|
rs2143075127
|
0.00001
|
NM_000263.4(NAGLU):c.261G>C (p.Ala87=)
|
rs1452325580
|
0.00001
|
NM_000263.4(NAGLU):c.270C>T (p.His90=)
|
rs1360267129
|
0.00001
|
NM_000263.4(NAGLU):c.276C>T (p.Tyr92=)
|
rs753801626
|
0.00001
|
NM_000263.4(NAGLU):c.351G>T (p.Val117=)
|
rs1436378685
|
0.00001
|
NM_000263.4(NAGLU):c.36C>T (p.Val12=)
|
rs1216969402
|
0.00001
|
NM_000263.4(NAGLU):c.383+16T>A
|
rs1165932919
|
0.00001
|
NM_000263.4(NAGLU):c.384-16A>T
|
rs768251683
|
0.00001
|
NM_000263.4(NAGLU):c.384-8G>A
|
rs746106558
|
0.00001
|
NM_000263.4(NAGLU):c.387C>T (p.Tyr129=)
|
rs1453761645
|
0.00001
|
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
rs750741772
|
0.00001
|
NM_000263.4(NAGLU):c.411G>A (p.Thr137=)
|
rs1464521532
|
0.00001
|
NM_000263.4(NAGLU):c.44T>C (p.Leu15Pro)
|
rs1280690494
|
0.00001
|
NM_000263.4(NAGLU):c.48C>T (p.Ala16=)
|
rs1312488945
|
0.00001
|
NM_000263.4(NAGLU):c.531+16C>G
|
rs371069569
|
0.00001
|
NM_000263.4(NAGLU):c.531+17C>T
|
rs1370631781
|
0.00001
|
NM_000263.4(NAGLU):c.532-11T>G
|
rs977518446
|
0.00001
|
NM_000263.4(NAGLU):c.532-18T>C
|
rs778988299
|
0.00001
|
NM_000263.4(NAGLU):c.532-6C>T
|
rs2510653141
|
0.00001
|
NM_000263.4(NAGLU):c.606G>A (p.Gly202=)
|
rs113826639
|
0.00001
|
NM_000263.4(NAGLU):c.63G>A (p.Ala21=)
|
rs564850299
|
0.00001
|
NM_000263.4(NAGLU):c.645C>T (p.Pro215=)
|
rs2092912974
|
0.00001
|
NM_000263.4(NAGLU):c.679-15C>T
|
rs376430265
|
0.00001
|
NM_000263.4(NAGLU):c.679-18T>A
|
rs2510653764
|
0.00001
|
NM_000263.4(NAGLU):c.684G>A (p.Arg228=)
|
rs2510653790
|
0.00001
|
NM_000263.4(NAGLU):c.708C>T (p.Phe236=)
|
rs770221835
|
0.00001
|
NM_000263.4(NAGLU):c.720A>T (p.Pro240=)
|
rs892493572
|
0.00001
|
NM_000263.4(NAGLU):c.735C>T (p.Phe245=)
|
rs539646032
|
0.00001
|
NM_000263.4(NAGLU):c.738G>A (p.Ala246=)
|
rs773222814
|
0.00001
|
NM_000263.4(NAGLU):c.741G>C (p.Gly247=)
|
rs760463334
|
0.00001
|
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
rs367604063
|
0.00001
|
NM_000263.4(NAGLU):c.764+12C>G
|
rs1002650158
|
0.00001
|
NM_000263.4(NAGLU):c.764+15A>G
|
rs1419186153
|
0.00001
|
NM_000263.4(NAGLU):c.764+16C>T
|
rs780594825
|
0.00001
|
NM_000263.4(NAGLU):c.780C>A (p.Val260=)
|
rs1411789843
|
0.00001
|
NM_000263.4(NAGLU):c.783T>C (p.Asn261=)
|
rs1275689779
|
0.00001
|
NM_000263.4(NAGLU):c.81G>C (p.Arg27=)
|
rs1021204618
|
0.00001
|
NM_000263.4(NAGLU):c.871A>C (p.Ile291Leu)
|
rs199625480
|
0.00001
|
NM_000263.4(NAGLU):c.87G>A (p.Ala29=)
|
rs2092905997
|
0.00001
|
NM_000263.4(NAGLU):c.894G>A (p.Glu298=)
|
rs746626709
|
0.00001
|
NM_000263.4(NAGLU):c.909T>C (p.Phe303=)
|
rs140386564
|
0.00001
|
NM_000263.4(NAGLU):c.930G>A (p.Gly310=)
|
rs1246139842
|
0.00001
|
NM_000263.4(NAGLU):c.93C>T (p.Ala31=)
|
rs1182949586
|
0.00001
|
NM_000263.4(NAGLU):c.969G>A (p.Glu323=)
|
rs1474272372
|
0.00001
|
NM_000263.4(NAGLU):c.990C>T (p.Ala330=)
|
rs1051441744
|
0.00001
|
NM_000263.4(NAGLU):c.999C>T (p.Ala333=)
|
rs959173039
|
0.00001
|
NM_001005361.3(DNM2):c.1062G>A (p.Leu354=)
|
rs1294460166
|
0.00001
|
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=)
|
rs779241319
|
0.00001
|
NM_001005361.3(DNM2):c.1095C>A (p.Ile365=)
|
rs746959606
|
0.00001
|
NM_001005361.3(DNM2):c.1101C>T (p.His367=)
|
rs768651920
|
0.00001
|
NM_001005361.3(DNM2):c.1110C>T (p.Phe370=)
|
rs201700534
|
0.00001
|
NM_001005361.3(DNM2):c.1128+13G>A
|
rs772437963
|
0.00001
|
NM_001005361.3(DNM2):c.1128+7C>G
|
rs772959277
|
0.00001
|
NM_001005361.3(DNM2):c.1129-6T>C
|
rs1190685421
|
0.00001
|
NM_001005361.3(DNM2):c.1146G>A (p.Lys382=)
|
rs1568305184
|
0.00001
|
NM_001005361.3(DNM2):c.1196+606G>C
|
rs1166607845
|
0.00001
|
NM_001005361.3(DNM2):c.1196+613C>T
|
rs530195152
|
0.00001
|
NM_001005361.3(DNM2):c.1196+676C>T
|
rs115439545
|
0.00001
|
NM_001005361.3(DNM2):c.1196+703A>G
|
rs1460963465
|
0.00001
|
NM_001005361.3(DNM2):c.1196+709C>T
|
rs1459325416
|
0.00001
|
NM_001005361.3(DNM2):c.1196+754C>T
|
rs2071926755
|
0.00001
|
NM_001005361.3(DNM2):c.1196+771C>T
|
rs775754391
|
0.00001
|
NM_001005361.3(DNM2):c.1196+774G>A
|
rs1466821447
|
0.00001
|
NM_001005361.3(DNM2):c.126C>T (p.Ala42=)
|
rs1425173670
|
0.00001
|
NM_001005361.3(DNM2):c.1336-20C>T
|
rs376646009
|
0.00001
|
NM_001005361.3(DNM2):c.1380C>T (p.Val460=)
|
rs2072021814
|
0.00001
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
NM_001005361.3(DNM2):c.1413G>A (p.Thr471=)
|
rs2072022940
|
0.00001
|
NM_001005361.3(DNM2):c.1423-4C>T
|
rs552776205
|
0.00001
|
NM_001005361.3(DNM2):c.1440C>T (p.Asp480=)
|
rs374655671
|
0.00001
|
NM_001005361.3(DNM2):c.1464G>A (p.Thr488=)
|
rs780514532
|
0.00001
|
NM_001005361.3(DNM2):c.1482C>T (p.Ile494=)
|
rs377458236
|
0.00001
|
NM_001005361.3(DNM2):c.1494-14T>C
|
rs763211821
|
0.00001
|
NM_001005361.3(DNM2):c.1494-16_1494-13del
|
rs1007553660
|
0.00001
|
NM_001005361.3(DNM2):c.1494-18T>A
|
rs1165508486
|
0.00001
|
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905
|
0.00001
|
NM_001005361.3(DNM2):c.1530A>G (p.Arg510=)
|
rs755640122
|
0.00001
|
NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)
|
rs368598401
|
0.00001
|
NM_001005361.3(DNM2):c.1545+17C>T
|
rs943090537
|
0.00001
|
NM_001005361.3(DNM2):c.1545+9C>A
|
rs1457554222
|
0.00001
|
NM_001005361.3(DNM2):c.1554C>T (p.Ile518=)
|
rs1392112344
|
0.00001
|
NM_001005361.3(DNM2):c.1555C>T (p.Leu519=)
|
rs756735960
|
0.00001
|
NM_001005361.3(DNM2):c.1558-5C>A
|
rs777800520
|
0.00001
|
NM_001005361.3(DNM2):c.1558-9T>G
|
rs748026953
|
0.00001
|
NM_001005361.3(DNM2):c.1578G>T (p.Leu526=)
|
rs774068020
|
0.00001
|
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=)
|
rs774973372
|
0.00001
|
NM_001005361.3(DNM2):c.162-13C>T
|
rs779337610
|
0.00001
|
NM_001005361.3(DNM2):c.162-6del
|
rs766449694
|
0.00001
|
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg)
|
rs886043756
|
0.00001
|
NM_001005361.3(DNM2):c.1716C>A (p.Ile572=)
|
rs776999450
|
0.00001
|
NM_001005361.3(DNM2):c.1752C>T (p.His584=)
|
rs552850014
|
0.00001
|
NM_001005361.3(DNM2):c.1758C>T (p.Phe586=)
|
rs766274376
|
0.00001
|
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=)
|
rs201604679
|
0.00001
|
NM_001005361.3(DNM2):c.1781+12del
|
rs1377722258
|
0.00001
|
NM_001005361.3(DNM2):c.1781+16G>T
|
rs752355749
|
0.00001
|
NM_001005361.3(DNM2):c.1781+7G>A
|
rs780683090
|
0.00001
|
NM_001005361.3(DNM2):c.1782-6C>T
|
rs963604980
|
0.00001
|
NM_001005361.3(DNM2):c.1785C>T (p.Asn595=)
|
rs755603323
|
0.00001
|
NM_001005361.3(DNM2):c.1798C>T (p.Leu600=)
|
rs753491707
|
0.00001
|
NM_001005361.3(DNM2):c.1809C>T (p.Ile603=)
|
rs780409124
|
0.00001
|
NM_001005361.3(DNM2):c.183A>G (p.Ser61=)
|
rs149555942
|
0.00001
|
NM_001005361.3(DNM2):c.1851G>A (p.Lys617=)
|
rs2073060033
|
0.00001
|
NM_001005361.3(DNM2):c.1857G>A (p.Ser619=)
|
rs377009386
|
0.00001
|
NM_001005361.3(DNM2):c.1872C>T (p.Gly624=)
|
rs774256221
|
0.00001
|
NM_001005361.3(DNM2):c.1893+10C>T
|
rs147321173
|
0.00001
|
NM_001005361.3(DNM2):c.1893+11G>A
|
rs763530224
|
0.00001
|
NM_001005361.3(DNM2):c.1893+14C>A
|
rs2073062600
|
0.00001
|
NM_001005361.3(DNM2):c.1894-8G>A
|
rs558330407
|
0.00001
|
NM_001005361.3(DNM2):c.1894-9C>T
|
rs377410182
|
0.00001
|
NM_001005361.3(DNM2):c.1905G>A (p.Glu635=)
|
rs764989412
|
0.00001
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
rs749994173
|
0.00001
|
NM_001005361.3(DNM2):c.1944A>G (p.Gln648=)
|
rs541331101
|
0.00001
|
NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=)
|
rs754264521
|
0.00001
|
NM_001005361.3(DNM2):c.2059-4G>A
|
rs755212019
|
0.00001
|
NM_001005361.3(DNM2):c.2097A>G (p.Leu699=)
|
rs572608190
|
0.00001
|
NM_001005361.3(DNM2):c.2100C>T (p.Tyr700=)
|
rs756845145
|
0.00001
|
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu)
|
rs745382488
|
0.00001
|
NM_001005361.3(DNM2):c.2107G>A (p.Ala703Thr)
|
rs1299975305
|
0.00001
|
NM_001005361.3(DNM2):c.216G>A (p.Gln72=)
|
rs368075301
|
0.00001
|
NM_001005361.3(DNM2):c.2178C>T (p.Tyr726=)
|
rs1022616200
|
0.00001
|
NM_001005361.3(DNM2):c.2196G>A (p.Ala732=)
|
rs778166280
|
0.00001
|
NM_001005361.3(DNM2):c.219C>A (p.Leu73=)
|
rs372012614
|
0.00001
|
NM_001005361.3(DNM2):c.2223C>T (p.Thr741=)
|
rs1417413636
|
0.00001
|
NM_001005361.3(DNM2):c.2229T>C (p.Thr743=)
|
rs201162827
|
0.00001
|
NM_001005361.3(DNM2):c.2238G>A (p.Thr746=)
|
rs370550750
|
0.00001
|
NM_001005361.3(DNM2):c.2256C>T (p.Val752=)
|
rs751020224
|
0.00001
|
NM_001005361.3(DNM2):c.2271C>T (p.Leu757=)
|
rs749699725
|
0.00001
|
NM_001005361.3(DNM2):c.2277C>T (p.Ser759=)
|
rs757565933
|
0.00001
|
NM_001005361.3(DNM2):c.235+13G>A
|
rs201274056
|
0.00001
|
NM_001005361.3(DNM2):c.236-18T>C
|
rs1471986058
|
0.00001
|
NM_001005361.3(DNM2):c.236-20C>T
|
rs920150388
|
0.00001
|
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile)
|
rs763624831
|
0.00001
|
NM_001005361.3(DNM2):c.2370G>C (p.Gly790=)
|
rs750852426
|
0.00001
|
NM_001005361.3(DNM2):c.2391C>T (p.Pro797=)
|
rs777834732
|
0.00001
|
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)
|
rs779081943
|
0.00001
|
NM_001005361.3(DNM2):c.2430A>G (p.Pro810=)
|
rs1234478593
|
0.00001
|
NM_001005361.3(DNM2):c.243C>T (p.Ala81=)
|
rs755366581
|
0.00001
|
NM_001005361.3(DNM2):c.246G>A (p.Glu82=)
|
rs781609353
|
0.00001
|
NM_001005361.3(DNM2):c.2526T>C (p.Ile842=)
|
rs1173105671
|
0.00001
|
NM_001005361.3(DNM2):c.2544-17C>G
|
rs945329439
|
0.00001
|
NM_001005361.3(DNM2):c.2544-19G>A
|
rs769617279
|
0.00001
|
NM_001005361.3(DNM2):c.2553C>T (p.Pro851=)
|
rs767922836
|
0.00001
|
NM_001005361.3(DNM2):c.2602C>T (p.Leu868=)
|
rs754910531
|
0.00001
|
NM_001005361.3(DNM2):c.267A>G (p.Lys89=)
|
rs748666756
|
0.00001
|
NM_001005361.3(DNM2):c.270G>A (p.Lys90=)
|
rs2071015900
|
0.00001
|
NM_001005361.3(DNM2):c.297G>A (p.Gln99=)
|
rs896254945
|
0.00001
|
NM_001005361.3(DNM2):c.30C>T (p.Ile10=)
|
rs1249596675
|
0.00001
|
NM_001005361.3(DNM2):c.33G>A (p.Pro11=)
|
rs779502758
|
0.00001
|
NM_001005361.3(DNM2):c.360C>T (p.Ile120=)
|
rs1057329372
|
0.00001
|
NM_001005361.3(DNM2):c.385+13G>C
|
rs377633348
|
0.00001
|
NM_001005361.3(DNM2):c.402C>T (p.Leu134=)
|
rs748069348
|
0.00001
|
NM_001005361.3(DNM2):c.417T>A (p.Gly139=)
|
rs1251651902
|
0.00001
|
NM_001005361.3(DNM2):c.456C>T (p.Ile152=)
|
rs763409114
|
0.00001
|
NM_001005361.3(DNM2):c.471G>A (p.Lys157=)
|
rs757708760
|
0.00001
|
NM_001005361.3(DNM2):c.579C>T (p.Val193=)
|
rs201924777
|
0.00001
|
NM_001005361.3(DNM2):c.57C>T (p.Ala19=)
|
rs1599402522
|
0.00001
|
NM_001005361.3(DNM2):c.589+19C>A
|
rs767859111
|
0.00001
|
NM_001005361.3(DNM2):c.592C>T (p.Leu198=)
|
rs770036756
|
0.00001
|
NM_001005361.3(DNM2):c.594A>G (p.Leu198=)
|
rs773813749
|
0.00001
|
NM_001005361.3(DNM2):c.625C>T (p.Leu209=)
|
rs927749691
|
0.00001
|
NM_001005361.3(DNM2):c.637G>T (p.Gly213Cys)
|
rs767908123
|
0.00001
|
NM_001005361.3(DNM2):c.639C>T (p.Gly213=)
|
rs1314677389
|
0.00001
|
NM_001005361.3(DNM2):c.63C>T (p.Ser21=)
|
rs763443182
|
0.00001
|
NM_001005361.3(DNM2):c.642C>T (p.Thr214=)
|
rs752944817
|
0.00001
|
NM_001005361.3(DNM2):c.681G>A (p.Leu227=)
|
rs770225926
|
0.00001
|
NM_001005361.3(DNM2):c.688+14G>T
|
rs367743010
|
0.00001
|
NM_001005361.3(DNM2):c.688+7C>T
|
rs1031505173
|
0.00001
|
NM_001005361.3(DNM2):c.689-12C>T
|
rs764555297
|
0.00001
|
NM_001005361.3(DNM2):c.699C>T (p.Gly233=)
|
rs751844947
|
0.00001
|
NM_001005361.3(DNM2):c.807C>T (p.Ala269=)
|
rs752361306
|
0.00001
|
NM_001005361.3(DNM2):c.819C>T (p.Gly273=)
|
rs1464745378
|
0.00001
|
NM_001005361.3(DNM2):c.81C>T (p.Cys27=)
|
rs534605878
|
0.00001
|
NM_001005361.3(DNM2):c.849+9A>G
|
rs776761320
|
0.00001
|
NM_001005361.3(DNM2):c.858C>G (p.Thr286=)
|
rs542637338
|
0.00001
|
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val)
|
rs766950025
|
0.00001
|
NM_001005361.3(DNM2):c.891T>G (p.Arg297=)
|
rs1447417104
|
0.00001
|
NM_001005361.3(DNM2):c.900A>G (p.Leu300=)
|
rs1599552753
|
0.00001
|
NM_001005361.3(DNM2):c.906C>T (p.Ser302=)
|
rs1314241405
|
0.00001
|
NM_001005361.3(DNM2):c.915G>A (p.Leu305=)
|
rs773624569
|
0.00001
|
NM_001005361.3(DNM2):c.960C>T (p.Asp320=)
|
rs774137901
|
0.00001
|
NM_001005361.3(DNM2):c.990G>A (p.Leu330=)
|
rs1386181817
|
0.00001
|
NM_001005361.3(DNM2):c.992+13G>A
|
rs751885259
|
0.00001
|
NM_001005361.3(DNM2):c.992+8C>T
|
rs776457890
|
0.00001
|
NM_001005361.3(DNM2):c.993-5C>T
|
rs1465269872
|
0.00001
|
NM_001005373.4(LRSAM1):c.1043+18G>A
|
rs775108432
|
0.00001
|
NM_001005373.4(LRSAM1):c.1088+19G>A
|
rs932727553
|
0.00001
|
NM_001005373.4(LRSAM1):c.1152C>T (p.Asp384=)
|
rs760074620
|
0.00001
|
NM_001005373.4(LRSAM1):c.1159+16G>A
|
rs549312299
|
0.00001
|
NM_001005373.4(LRSAM1):c.1160-7C>T
|
rs377144291
|
0.00001
|
NM_001005373.4(LRSAM1):c.1161C>T (p.Ser387=)
|
rs763903913
|
0.00001
|
NM_001005373.4(LRSAM1):c.120G>A (p.Glu40=)
|
rs775125689
|
0.00001
|
NM_001005373.4(LRSAM1):c.1236C>T (p.Asn412=)
|
rs186139632
|
0.00001
|
NM_001005373.4(LRSAM1):c.1245G>A (p.Gln415=)
|
rs757101883
|
0.00001
|
NM_001005373.4(LRSAM1):c.1329C>T (p.Ile443=)
|
rs771415278
|
0.00001
|
NM_001005373.4(LRSAM1):c.1341G>A (p.Leu447=)
|
rs781611387
|
0.00001
|
NM_001005373.4(LRSAM1):c.1347+10C>T
|
rs772922921
|
0.00001
|
NM_001005373.4(LRSAM1):c.1348-6T>A
|
rs200130803
|
0.00001
|
NM_001005373.4(LRSAM1):c.1377A>G (p.Ala459=)
|
rs750833777
|
0.00001
|
NM_001005373.4(LRSAM1):c.1398G>A (p.Leu466=)
|
rs2539419671
|
0.00001
|
NM_001005373.4(LRSAM1):c.1422+14C>T
|
rs775636699
|
0.00001
|
NM_001005373.4(LRSAM1):c.1422+7G>A
|
rs769842908
|
0.00001
|
NM_001005373.4(LRSAM1):c.1423-13G>A
|
rs751110136
|
0.00001
|
NM_001005373.4(LRSAM1):c.1453C>T (p.Leu485=)
|
rs780956904
|
0.00001
|
NM_001005373.4(LRSAM1):c.1503+13C>T
|
rs893828411
|
0.00001
|
NM_001005373.4(LRSAM1):c.1503+8G>C
|
rs761964249
|
0.00001
|
NM_001005373.4(LRSAM1):c.1504-16G>T
|
rs1215804539
|
0.00001
|
NM_001005373.4(LRSAM1):c.1518G>A (p.Glu506=)
|
rs199703262
|
0.00001
|
NM_001005373.4(LRSAM1):c.1572G>A (p.Gln524=)
|
rs746202048
|
0.00001
|
NM_001005373.4(LRSAM1):c.1599+17T>G
|
rs368471851
|
0.00001
|
NM_001005373.4(LRSAM1):c.1599+18G>C
|
rs1406274226
|
0.00001
|
NM_001005373.4(LRSAM1):c.1698+14G>A
|
rs1208271664
|
0.00001
|
NM_001005373.4(LRSAM1):c.1698+20G>A
|
rs749662590
|
0.00001
|
NM_001005373.4(LRSAM1):c.1794C>T (p.Asp598=)
|
rs758898673
|
0.00001
|
NM_001005373.4(LRSAM1):c.1831-13T>C
|
rs2132116158
|
0.00001
|
NM_001005373.4(LRSAM1):c.1836C>T (p.Gly612=)
|
rs577254396
|
0.00001
|
NM_001005373.4(LRSAM1):c.1885C>T (p.Leu629=)
|
rs764391717
|
0.00001
|
NM_001005373.4(LRSAM1):c.1912+10C>T
|
rs1473393318
|
0.00001
|
NM_001005373.4(LRSAM1):c.1913-12T>C
|
rs1836364930
|
0.00001
|
NM_001005373.4(LRSAM1):c.192G>A (p.Thr64=)
|
rs778625125
|
0.00001
|
NM_001005373.4(LRSAM1):c.1962G>A (p.Glu654=)
|
rs1206483281
|
0.00001
|
NM_001005373.4(LRSAM1):c.1995T>C (p.Pro665=)
|
rs974205215
|
0.00001
|
NM_001005373.4(LRSAM1):c.2016C>G (p.Ala672=)
|
rs1229154466
|
0.00001
|
NM_001005373.4(LRSAM1):c.2047-16C>T
|
rs772884032
|
0.00001
|
NM_001005373.4(LRSAM1):c.2058C>T (p.Ile686=)
|
rs2539470642
|
0.00001
|
NM_001005373.4(LRSAM1):c.2076C>T (p.His692=)
|
rs753650841
|
0.00001
|
NM_001005373.4(LRSAM1):c.207C>T (p.Ser69=)
|
rs1273717712
|
0.00001
|
NM_001005373.4(LRSAM1):c.2094G>A (p.Gln698=)
|
rs752678501
|
0.00001
|
NM_001005373.4(LRSAM1):c.2112C>T (p.Arg704=)
|
rs1836447662
|
0.00001
|
NM_001005373.4(LRSAM1):c.2140G>A (p.Ala714Thr)
|
rs527668507
|
0.00001
|
NM_001005373.4(LRSAM1):c.234G>A (p.Leu78=)
|
rs566623718
|
0.00001
|
NM_001005373.4(LRSAM1):c.252+10C>A
|
rs765686374
|
0.00001
|
NM_001005373.4(LRSAM1):c.284C>T (p.Ala95Val)
|
rs570248730
|
0.00001
|
NM_001005373.4(LRSAM1):c.300G>A (p.Leu100=)
|
rs758812956
|
0.00001
|
NM_001005373.4(LRSAM1):c.322-9C>T
|
rs1231191104
|
0.00001
|
NM_001005373.4(LRSAM1):c.407-10G>A
|
rs916806387
|
0.00001
|
NM_001005373.4(LRSAM1):c.435C>T (p.Thr145=)
|
rs781577020
|
0.00001
|
NM_001005373.4(LRSAM1):c.528+12G>A
|
rs769164021
|
0.00001
|
NM_001005373.4(LRSAM1):c.564G>A (p.Pro188=)
|
rs774399646
|
0.00001
|
NM_001005373.4(LRSAM1):c.567G>A (p.Pro189=)
|
rs761890031
|
0.00001
|
NM_001005373.4(LRSAM1):c.63G>A (p.Gln21=)
|
rs1057521344
|
0.00001
|
NM_001005373.4(LRSAM1):c.702C>T (p.Ser234=)
|
rs777755879
|
0.00001
|
NM_001005373.4(LRSAM1):c.73-8A>T
|
rs756364990
|
0.00001
|
NM_001005373.4(LRSAM1):c.744G>A (p.Glu248=)
|
rs762242062
|
0.00001
|
NM_001005373.4(LRSAM1):c.75A>C (p.Ala25=)
|
rs754374008
|
0.00001
|
NM_001005373.4(LRSAM1):c.780+13C>T
|
rs1451126007
|
0.00001
|
NM_001005373.4(LRSAM1):c.781-17G>A
|
rs202170746
|
0.00001
|
NM_001005373.4(LRSAM1):c.783A>G (p.Glu261=)
|
rs1344070586
|
0.00001
|
NM_001005373.4(LRSAM1):c.786G>A (p.Gln262=)
|
rs748439646
|
0.00001
|
NM_001005373.4(LRSAM1):c.849G>A (p.Gln283=)
|
rs375636993
|
0.00001
|
NM_001005373.4(LRSAM1):c.972G>A (p.Leu324=)
|
rs940085400
|
0.00001
|
NM_001122955.4(BSCL2):c.1005+14A>G
|
rs962501421
|
0.00001
|
NM_001122955.4(BSCL2):c.1005+18C>A
|
rs1474695153
|
0.00001
|
NM_001122955.4(BSCL2):c.1006-20C>T
|
rs745611044
|
0.00001
|
NM_001122955.4(BSCL2):c.1006-4A>C
|
rs751265217
|
0.00001
|
NM_001122955.4(BSCL2):c.1047A>G (p.Gln349=)
|
rs769021944
|
0.00001
|
NM_001122955.4(BSCL2):c.1051A>C (p.Arg351=)
|
rs1425357801
|
0.00001
|
NM_001122955.4(BSCL2):c.1089G>A (p.Glu363=)
|
rs764682700
|
0.00001
|
NM_001122955.4(BSCL2):c.1101G>A (p.Pro367=)
|
rs746737457
|
0.00001
|
NM_001122955.4(BSCL2):c.1110T>C (p.Asp370=)
|
rs1945289925
|
0.00001
|
NM_001122955.4(BSCL2):c.1153+12C>T
|
rs765531343
|
0.00001
|
NM_001122955.4(BSCL2):c.1153+16C>T
|
rs369798542
|
0.00001
|
NM_001122955.4(BSCL2):c.1153+7C>T
|
rs758675404
|
0.00001
|
NM_001122955.4(BSCL2):c.1153+8G>A
|
rs372839524
|
0.00001
|
NM_001122955.4(BSCL2):c.1212G>A (p.Glu404=)
|
rs563653317
|
0.00001
|
NM_001122955.4(BSCL2):c.1230T>C (p.Ser410=)
|
rs768191284
|
0.00001
|
NM_001122955.4(BSCL2):c.1234+19C>T
|
rs748453195
|
0.00001
|
NM_001122955.4(BSCL2):c.1235-17T>C
|
rs764000384
|
0.00001
|
NM_001122955.4(BSCL2):c.1235-4C>T
|
rs775246044
|
0.00001
|
NM_001122955.4(BSCL2):c.1239A>G (p.Ser413=)
|
rs2539143224
|
0.00001
|
NM_001122955.4(BSCL2):c.1242C>G (p.Gly414=)
|
rs1945277080
|
0.00001
|
NM_001122955.4(BSCL2):c.1251A>G (p.Glu417=)
|
rs768646836
|
0.00001
|
NM_001122955.4(BSCL2):c.1254T>C (p.Asp418=)
|
rs776343859
|
0.00001
|
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=)
|
rs748736063
|
0.00001
|
NM_001122955.4(BSCL2):c.1320A>G (p.Leu440=)
|
rs376418772
|
0.00001
|
NM_001122955.4(BSCL2):c.1371C>A (p.Pro457=)
|
rs749597554
|
0.00001
|
NM_001122955.4(BSCL2):c.249C>T (p.Val83=)
|
rs746722132
|
0.00001
|
NM_001122955.4(BSCL2):c.273G>A (p.Leu91=)
|
rs572867847
|
0.00001
|
NM_001122955.4(BSCL2):c.336C>G (p.Leu112=)
|
rs545775232
|
0.00001
|
NM_001122955.4(BSCL2):c.345C>T (p.Ser115=)
|
rs200922424
|
0.00001
|
NM_001122955.4(BSCL2):c.357C>T (p.Ser119=)
|
rs2539181769
|
0.00001
|
NM_001122955.4(BSCL2):c.404+16T>C
|
rs779111644
|
0.00001
|
NM_001122955.4(BSCL2):c.404+17A>G
|
rs574822207
|
0.00001
|
NM_001122955.4(BSCL2):c.408C>T (p.Thr136=)
|
rs754001369
|
0.00001
|
NM_001122955.4(BSCL2):c.441C>T (p.Ser147=)
|
rs267603078
|
0.00001
|
NM_001122955.4(BSCL2):c.462G>A (p.Ser154=)
|
rs766801709
|
0.00001
|
NM_001122955.4(BSCL2):c.486+7A>G
|
rs1554984999
|
0.00001
|
NM_001122955.4(BSCL2):c.487-19T>C
|
rs762186744
|
0.00001
|
NM_001122955.4(BSCL2):c.487-9C>T
|
rs768857448
|
0.00001
|
NM_001122955.4(BSCL2):c.507G>A (p.Pro169=)
|
rs145393127
|
0.00001
|
NM_001122955.4(BSCL2):c.585C>G (p.Ser195=)
|
rs571672404
|
0.00001
|
NM_001122955.4(BSCL2):c.631-6C>T
|
rs768294248
|
0.00001
|
NM_001122955.4(BSCL2):c.660C>T (p.Leu220=)
|
rs950978890
|
0.00001
|
NM_001122955.4(BSCL2):c.684C>T (p.Phe228=)
|
rs745419166
|
0.00001
|
NM_001122955.4(BSCL2):c.744C>T (p.Tyr248=)
|
rs766655185
|
0.00001
|
NM_001122955.4(BSCL2):c.753T>C (p.Tyr251=)
|
rs773290851
|
0.00001
|
NM_001122955.4(BSCL2):c.765+7G>C
|
rs372287991
|
0.00001
|
NM_001122955.4(BSCL2):c.774G>A (p.Pro258=)
|
rs754629431
|
0.00001
|
NM_001122955.4(BSCL2):c.843C>T (p.His281=)
|
rs1188344099
|
0.00001
|
NM_001122955.4(BSCL2):c.849C>T (p.His283=)
|
rs911982128
|
0.00001
|
NM_001122955.4(BSCL2):c.864-6C>T
|
rs1945308147
|
0.00001
|
NM_001122955.4(BSCL2):c.864-8T>C
|
rs1373992341
|
0.00001
|
NM_001122955.4(BSCL2):c.909T>G (p.Val303=)
|
rs771142315
|
0.00001
|
NM_001122955.4(BSCL2):c.927C>T (p.Phe309=)
|
rs1346512157
|
0.00001
|
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=)
|
rs748195771
|
0.00001
|
NM_001122955.4(BSCL2):c.984C>T (p.Pro328=)
|
rs1350933194
|
0.00001
|
NM_001303256.3(MORC2):c.1026G>T (p.Leu342=)
|
rs2517595592
|
0.00001
|
NM_001303256.3(MORC2):c.1191G>A (p.Val397=)
|
rs777200130
|
0.00001
|
NM_001303256.3(MORC2):c.1214+9T>C
|
rs771354594
|
0.00001
|
NM_001303256.3(MORC2):c.1308C>T (p.Tyr436=)
|
rs768240412
|
0.00001
|
NM_001303256.3(MORC2):c.1369+5T>A
|
rs147800268
|
0.00001
|
NM_001303256.3(MORC2):c.1446G>A (p.Glu482=)
|
rs897870181
|
0.00001
|
NM_001303256.3(MORC2):c.1499-14T>A
|
rs377219143
|
0.00001
|
NM_001303256.3(MORC2):c.1506T>C (p.Cys502=)
|
rs2517586470
|
0.00001
|
NM_001303256.3(MORC2):c.1524C>G (p.Leu508=)
|
rs746013134
|
0.00001
|
NM_001303256.3(MORC2):c.158-19G>A
|
rs750567241
|
0.00001
|
NM_001303256.3(MORC2):c.158-8T>C
|
rs1392279947
|
0.00001
|
NM_001303256.3(MORC2):c.1604+10T>C
|
rs780217216
|
0.00001
|
NM_001303256.3(MORC2):c.1604+20A>G
|
rs1473697256
|
0.00001
|
NM_001303256.3(MORC2):c.1605-17G>T
|
rs1269004663
|
0.00001
|
NM_001303256.3(MORC2):c.1692G>C (p.Leu564=)
|
rs772625385
|
0.00001
|
NM_001303256.3(MORC2):c.1722G>A (p.Lys574=)
|
rs1478891412
|
0.00001
|
NM_001303256.3(MORC2):c.1737+12A>G
|
rs765105846
|
0.00001
|
NM_001303256.3(MORC2):c.1738-12T>A
|
rs561770621
|
0.00001
|
NM_001303256.3(MORC2):c.1755C>T (p.Arg585=)
|
rs748124733
|
0.00001
|
NM_001303256.3(MORC2):c.1761A>G (p.Gln587=)
|
rs778753246
|
0.00001
|
NM_001303256.3(MORC2):c.1845G>A (p.Ser615=)
|
rs765731466
|
0.00001
|
NM_001303256.3(MORC2):c.1848C>T (p.Pro616=)
|
rs1400683452
|
0.00001
|
NM_001303256.3(MORC2):c.1872C>T (p.Asn624=)
|
rs199783160
|
0.00001
|
NM_001303256.3(MORC2):c.1940T>C (p.Ile647Thr)
|
rs754318159
|
0.00001
|
NM_001303256.3(MORC2):c.2023C>A (p.Arg675=)
|
rs532346574
|
0.00001
|
NM_001303256.3(MORC2):c.2043C>T (p.Leu681=)
|
rs908389720
|
0.00001
|
NM_001303256.3(MORC2):c.2187C>G (p.Leu729=)
|
rs764762092
|
0.00001
|
NM_001303256.3(MORC2):c.2193+14C>A
|
rs2040626806
|
0.00001
|
NM_001303256.3(MORC2):c.2194-16G>A
|
rs1569189880
|
0.00001
|
NM_001303256.3(MORC2):c.227-5T>C
|
rs763643471
|
0.00001
|
NM_001303256.3(MORC2):c.227-8C>T
|
rs773796930
|
0.00001
|
NM_001303256.3(MORC2):c.2318C>T (p.Ser773Leu)
|
rs554785074
|
0.00001
|
NM_001303256.3(MORC2):c.2325+11G>T
|
rs2040617030
|
0.00001
|
NM_001303256.3(MORC2):c.2326-10C>T
|
rs779612677
|
0.00001
|
NM_001303256.3(MORC2):c.2326-12C>T
|
rs748997786
|
0.00001
|
NM_001303256.3(MORC2):c.2352C>T (p.Asp784=)
|
rs374524410
|
0.00001
|
NM_001303256.3(MORC2):c.2376G>A (p.Gln792=)
|
rs967298362
|
0.00001
|
NM_001303256.3(MORC2):c.2380+17A>T
|
rs774764459
|
0.00001
|
NM_001303256.3(MORC2):c.2381-10A>G
|
rs2040599171
|
0.00001
|
NM_001303256.3(MORC2):c.2381-12C>T
|
rs771911706
|
0.00001
|
NM_001303256.3(MORC2):c.2381-18C>T
|
rs1047351325
|
0.00001
|
NM_001303256.3(MORC2):c.2381-19C>T
|
rs777335242
|
0.00001
|
NM_001303256.3(MORC2):c.2381-9C>T
|
rs748063847
|
0.00001
|
NM_001303256.3(MORC2):c.2442C>T (p.Ala814=)
|
rs757728179
|
0.00001
|
NM_001303256.3(MORC2):c.2505G>A (p.Thr835=)
|
rs772615451
|
0.00001
|
NM_001303256.3(MORC2):c.2508A>G (p.Thr836=)
|
rs2040596513
|
0.00001
|
NM_001303256.3(MORC2):c.2643A>T (p.Ile881=)
|
rs1379697348
|
0.00001
|
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr)
|
rs372297066
|
0.00001
|
NM_001303256.3(MORC2):c.2715C>T (p.His905=)
|
rs765227719
|
0.00001
|
NM_001303256.3(MORC2):c.2739G>A (p.Gln913=)
|
rs751197811
|
0.00001
|
NM_001303256.3(MORC2):c.2747+14T>C
|
rs1602477488
|
0.00001
|
NM_001303256.3(MORC2):c.2747+16G>T
|
rs376197429
|
0.00001
|
NM_001303256.3(MORC2):c.2748-15C>A
|
rs760591381
|
0.00001
|
NM_001303256.3(MORC2):c.2767C>T (p.Leu923=)
|
rs185390451
|
0.00001
|
NM_001303256.3(MORC2):c.2802G>T (p.Leu934=)
|
rs1602477274
|
0.00001
|
NM_001303256.3(MORC2):c.2841+19T>C
|
rs781471605
|
0.00001
|
NM_001303256.3(MORC2):c.2842-13C>T
|
rs2040519174
|
0.00001
|
NM_001303256.3(MORC2):c.2850C>T (p.Tyr950=)
|
rs756131826
|
0.00001
|
NM_001303256.3(MORC2):c.2907T>C (p.Ala969=)
|
rs892793528
|
0.00001
|
NM_001303256.3(MORC2):c.2952G>A (p.Glu984=)
|
rs924176973
|
0.00001
|
NM_001303256.3(MORC2):c.3003C>T (p.Ile1001=)
|
rs751315289
|
0.00001
|
NM_001303256.3(MORC2):c.300C>T (p.Tyr100=)
|
rs777775099
|
0.00001
|
NM_001303256.3(MORC2):c.3030+8C>T
|
rs376367685
|
0.00001
|
NM_001303256.3(MORC2):c.3031-19C>T
|
rs1296516776
|
0.00001
|
NM_001303256.3(MORC2):c.3031-4C>G
|
rs373542143
|
0.00001
|
NM_001303256.3(MORC2):c.317+17C>T
|
rs770128392
|
0.00001
|
NM_001303256.3(MORC2):c.317+19T>C
|
rs746032614
|
0.00001
|
NM_001303256.3(MORC2):c.317+7A>C
|
rs775495530
|
0.00001
|
NM_001303256.3(MORC2):c.426+16G>A
|
rs774485829
|
0.00001
|
NM_001303256.3(MORC2):c.427-4A>G
|
rs749183153
|
0.00001
|
NM_001303256.3(MORC2):c.465G>A (p.Arg155=)
|
rs1235717724
|
0.00001
|
NM_001303256.3(MORC2):c.498C>T (p.Ala166=)
|
rs2517604595
|
0.00001
|
NM_001303256.3(MORC2):c.598A>G (p.Ile200Val)
|
rs765371898
|
0.00001
|
NM_001303256.3(MORC2):c.648A>T (p.Ile216=)
|
rs2040747659
|
0.00001
|
NM_001303256.3(MORC2):c.68+16G>C
|
rs533264812
|
0.00001
|
NM_001303256.3(MORC2):c.684G>A (p.Thr228=)
|
rs534900451
|
0.00001
|
NM_001303256.3(MORC2):c.69-16G>A
|
rs922532667
|
0.00001
|
NM_001303256.3(MORC2):c.69-7A>G
|
rs1425735627
|
0.00001
|
NM_001303256.3(MORC2):c.698+20G>T
|
rs771379191
|
0.00001
|
NM_001303256.3(MORC2):c.698+8T>C
|
rs952744055
|
0.00001
|
NM_001303256.3(MORC2):c.760A>C (p.Arg254=)
|
rs568744235
|
0.00001
|
NM_001303256.3(MORC2):c.768C>T (p.Phe256=)
|
rs1247963621
|
0.00001
|
NM_001303256.3(MORC2):c.864G>A (p.Ala288=)
|
rs753519214
|
0.00001
|
NM_001303256.3(MORC2):c.870G>A (p.Gln290=)
|
rs766060409
|
0.00001
|
NM_001303256.3(MORC2):c.891C>T (p.His297=)
|
rs1602489695
|
0.00001
|
NM_001303256.3(MORC2):c.904+19C>T
|
rs200162306
|
0.00001
|
NM_001303256.3(MORC2):c.905-8G>T
|
rs1349605211
|
0.00001
|
NM_001303256.3(MORC2):c.927A>G (p.Ala309=)
|
rs1291021388
|
0.00001
|
NM_001303256.3(MORC2):c.958C>T (p.Leu320=)
|
rs376013637
|
0.00001
|
NM_001303256.3(MORC2):c.981C>T (p.Asp327=)
|
rs1215232533
|
0.00001
|
NM_001303256.3(MORC2):c.987+10C>T
|
rs1030059573
|
0.00001
|
NM_001303256.3(MORC2):c.987+11G>A
|
rs772070234
|
0.00001
|
NM_001303256.3(MORC2):c.987+17G>A
|
rs1374728754
|
0.00001
|
NM_001303256.3(MORC2):c.988-19C>T
|
rs1464202228
|
0.00001
|
NM_001365951.3(KIF1B):c.1005T>C (p.Asp335=)
|
rs777030180
|
0.00001
|
NM_001365951.3(KIF1B):c.1020G>A (p.Glu340=)
|
rs752830522
|
0.00001
|
NM_001365951.3(KIF1B):c.1038-5del
|
rs886044976
|
0.00001
|
NM_001365951.3(KIF1B):c.107-4C>T
|
rs1400237234
|
0.00001
|
NM_001365951.3(KIF1B):c.1281C>A (p.Arg427=)
|
rs1649452523
|
0.00001
|
NM_001365951.3(KIF1B):c.1283C>G (p.Pro428Arg)
|
rs771375467
|
0.00001
|
NM_001365951.3(KIF1B):c.1435-9C>T
|
rs200798756
|
0.00001
|
NM_001365951.3(KIF1B):c.1515-5C>T
|
rs776534234
|
0.00001
|
NM_001365951.3(KIF1B):c.1524G>A (p.Leu508=)
|
rs200986903
|
0.00001
|
NM_001365951.3(KIF1B):c.1590+15T>C
|
rs769267621
|
0.00001
|
NM_001365951.3(KIF1B):c.1623A>G (p.Pro541=)
|
rs753016667
|
0.00001
|
NM_001365951.3(KIF1B):c.165C>T (p.Ser55=)
|
rs1277944646
|
0.00001
|
NM_001365951.3(KIF1B):c.1665T>A (p.Ile555=)
|
rs200760130
|
0.00001
|
NM_001365951.3(KIF1B):c.1670+20T>C
|
rs961940739
|
0.00001
|
NM_001365951.3(KIF1B):c.1671-14T>C
|
rs753970500
|
0.00001
|
NM_001365951.3(KIF1B):c.1680A>G (p.Gln560=)
|
rs765720258
|
0.00001
|
NM_001365951.3(KIF1B):c.1737G>A (p.Glu579=)
|
rs747880909
|
0.00001
|
NM_001365951.3(KIF1B):c.1777+11C>G
|
rs1271941970
|
0.00001
|
NM_001365951.3(KIF1B):c.1778-11G>T
|
rs775644032
|
0.00001
|
NM_001365951.3(KIF1B):c.1778-8C>T
|
rs1188549546
|
0.00001
|
NM_001365951.3(KIF1B):c.180C>T (p.Thr60=)
|
rs1051505837
|
0.00001
|
NM_001365951.3(KIF1B):c.1818C>T (p.Tyr606=)
|
rs760404775
|
0.00001
|
NM_001365951.3(KIF1B):c.183+13A>G
|
rs1647779753
|
0.00001
|
NM_001365951.3(KIF1B):c.1836G>A (p.Val612=)
|
rs370014452
|
0.00001
|
NM_001365951.3(KIF1B):c.184-11A>T
|
rs1390896579
|
0.00001
|
NM_001365951.3(KIF1B):c.1899C>A (p.Arg633=)
|
rs1310291443
|
0.00001
|
NM_001365951.3(KIF1B):c.1929G>A (p.Glu643=)
|
rs1317346327
|
0.00001
|
NM_001365951.3(KIF1B):c.1950T>C (p.Ala650=)
|
rs776392893
|
0.00001
|
NM_001365951.3(KIF1B):c.2042+16G>A
|
rs1427727123
|
0.00001
|
NM_001365951.3(KIF1B):c.2042+20C>T
|
rs1190683777
|
0.00001
|
NM_001365951.3(KIF1B):c.2046A>G (p.Leu682=)
|
rs1192401478
|
0.00001
|
NM_001365951.3(KIF1B):c.2115+10C>G
|
rs763492737
|
0.00001
|
NM_001365951.3(KIF1B):c.2116-18T>G
|
rs776725809
|
0.00001
|
NM_001365951.3(KIF1B):c.2196A>G (p.Glu732=)
|
rs1308456824
|
0.00001
|
NM_001365951.3(KIF1B):c.2202G>A (p.Glu734=)
|
rs761475548
|
0.00001
|
NM_001365951.3(KIF1B):c.2205A>G (p.Glu735=)
|
rs766964585
|
0.00001
|
NM_001365951.3(KIF1B):c.2209+17G>A
|
rs1651464554
|
0.00001
|
NM_001365951.3(KIF1B):c.2210-16T>A
|
rs1160526245
|
0.00001
|
NM_001365951.3(KIF1B):c.2283A>C (p.Ser761=)
|
rs1349158879
|
0.00001
|
NM_001365951.3(KIF1B):c.2359-12C>A
|
rs772462130
|
0.00001
|
NM_001365951.3(KIF1B):c.2391A>G (p.Thr797=)
|
rs1651619021
|
0.00001
|
NM_001365951.3(KIF1B):c.2397C>T (p.Tyr799=)
|
rs770641216
|
0.00001
|
NM_001365951.3(KIF1B):c.2535C>T (p.Leu845=)
|
rs1411529894
|
0.00001
|
NM_001365951.3(KIF1B):c.2537+15A>G
|
rs757030966
|
0.00001
|
NM_001365951.3(KIF1B):c.2598C>A (p.Ala866=)
|
rs372972101
|
0.00001
|
NM_001365951.3(KIF1B):c.2619T>A (p.Thr873=)
|
rs1651668025
|
0.00001
|
NM_001365951.3(KIF1B):c.2631C>T (p.Ser877=)
|
rs200060590
|
0.00001
|
NM_001365951.3(KIF1B):c.2676-7T>C
|
rs774505807
|
0.00001
|
NM_001365951.3(KIF1B):c.2703C>T (p.Asn901=)
|
rs753514870
|
0.00001
|
NM_001365951.3(KIF1B):c.2724A>C (p.Thr908=)
|
rs1428919885
|
0.00001
|
NM_001365951.3(KIF1B):c.2733C>A (p.Pro911=)
|
rs746863711
|
0.00001
|
NM_001365951.3(KIF1B):c.2748C>T (p.Ala916=)
|
rs1282913811
|
0.00001
|
NM_001365951.3(KIF1B):c.2754C>T (p.Ser918=)
|
rs774630480
|
0.00001
|
NM_001365951.3(KIF1B):c.2796G>A (p.Glu932=)
|
rs759204484
|
0.00001
|
NM_001365951.3(KIF1B):c.2820G>A (p.Val940=)
|
rs2102301840
|
0.00001
|
NM_001365951.3(KIF1B):c.2838C>T (p.Asp946=)
|
rs138353787
|
0.00001
|
NM_001365951.3(KIF1B):c.2847G>A (p.Thr949=)
|
rs1231049477
|
0.00001
|
NM_001365951.3(KIF1B):c.2886G>A (p.Pro962=)
|
rs763515223
|
0.00001
|
NM_001365951.3(KIF1B):c.2924+18G>A
|
rs755946980
|
0.00001
|
NM_001365951.3(KIF1B):c.2925-20C>T
|
rs777092549
|
0.00001
|
NM_001365951.3(KIF1B):c.3006G>A (p.Val1002=)
|
rs535869886
|
0.00001
|
NM_001365951.3(KIF1B):c.3009G>A (p.Arg1003=)
|
rs1162738316
|
0.00001
|
NM_001365951.3(KIF1B):c.3039C>T (p.Ile1013=)
|
rs781205034
|
0.00001
|
NM_001365951.3(KIF1B):c.3043+7G>A
|
rs759344545
|
0.00001
|
NM_001365951.3(KIF1B):c.3130-20T>C
|
rs570479803
|
0.00001
|
NM_001365951.3(KIF1B):c.3156T>C (p.Thr1052=)
|
rs758814481
|
0.00001
|
NM_001365951.3(KIF1B):c.3166C>T (p.Leu1056=)
|
rs1210395183
|
0.00001
|
NM_001365951.3(KIF1B):c.3259+14G>A
|
rs779940853
|
0.00001
|
NM_001365951.3(KIF1B):c.3259+20T>C
|
rs201088775
|
0.00001
|
NM_001365951.3(KIF1B):c.3280C>T (p.Leu1094=)
|
rs1035683321
|
0.00001
|
NM_001365951.3(KIF1B):c.3422+19C>T
|
rs377631762
|
0.00001
|
NM_001365951.3(KIF1B):c.345G>A (p.Gln115=)
|
rs1647936052
|
0.00001
|
NM_001365951.3(KIF1B):c.348T>C (p.Ala116=)
|
rs1647936228
|
0.00001
|
NM_001365951.3(KIF1B):c.3495C>T (p.Ala1165=)
|
rs1385825592
|
0.00001
|
NM_001365951.3(KIF1B):c.3514-10T>A
|
rs1303469727
|
0.00001
|
NM_001365951.3(KIF1B):c.3567T>C (p.Ile1189=)
|
rs565936425
|
0.00001
|
NM_001365951.3(KIF1B):c.357T>C (p.Ile119=)
|
rs772901712
|
0.00001
|
NM_001365951.3(KIF1B):c.3582T>C (p.Phe1194=)
|
rs1459410102
|
0.00001
|
NM_001365951.3(KIF1B):c.363+17A>T
|
rs1391543389
|
0.00001
|
NM_001365951.3(KIF1B):c.3630C>T (p.Asn1210=)
|
rs910542787
|
0.00001
|
NM_001365951.3(KIF1B):c.3632+16G>A
|
rs754113976
|
0.00001
|
NM_001365951.3(KIF1B):c.3633-5T>C
|
rs2521760199
|
0.00001
|
NM_001365951.3(KIF1B):c.364-13T>G
|
rs773130922
|
0.00001
|
NM_001365951.3(KIF1B):c.3711G>A (p.Thr1237=)
|
rs766041029
|
0.00001
|
NM_001365951.3(KIF1B):c.3723C>A (p.Thr1241=)
|
rs1054467688
|
0.00001
|
NM_001365951.3(KIF1B):c.3798-9A>G
|
rs1173696086
|
0.00001
|
NM_001365951.3(KIF1B):c.3813G>A (p.Val1271=)
|
rs780521474
|
0.00001
|
NM_001365951.3(KIF1B):c.3846G>A (p.Gly1282=)
|
rs374156057
|
0.00001
|
NM_001365951.3(KIF1B):c.3864+16C>T
|
rs764351743
|
0.00001
|
NM_001365951.3(KIF1B):c.3865-18C>T
|
rs1249545848
|
0.00001
|
NM_001365951.3(KIF1B):c.3865-19A>G
|
rs777401305
|
0.00001
|
NM_001365951.3(KIF1B):c.3865-20A>C
|
rs1276765412
|
0.00001
|
NM_001365951.3(KIF1B):c.3865-8T>C
|
rs1330550259
|
0.00001
|
NM_001365951.3(KIF1B):c.3912C>T (p.Ser1304=)
|
rs775203595
|
0.00001
|
NM_001365951.3(KIF1B):c.3921T>C (p.His1307=)
|
rs1489606993
|
0.00001
|
NM_001365951.3(KIF1B):c.3949+9G>A
|
rs758193519
|
0.00001
|
NM_001365951.3(KIF1B):c.3950-14A>G
|
rs1652834605
|
0.00001
|
NM_001365951.3(KIF1B):c.4055+10C>T
|
rs559939407
|
0.00001
|
NM_001365951.3(KIF1B):c.4055+14A>G
|
rs776919788
|
0.00001
|
NM_001365951.3(KIF1B):c.4056-11T>A
|
rs950473181
|
0.00001
|
NM_001365951.3(KIF1B):c.4095G>A (p.Leu1365=)
|
rs770027202
|
0.00001
|
NM_001365951.3(KIF1B):c.4170+20del
|
rs768336280
|
0.00001
|
NM_001365951.3(KIF1B):c.4194T>A (p.Ala1398=)
|
rs765279950
|
0.00001
|
NM_001365951.3(KIF1B):c.4278C>T (p.Gly1426=)
|
rs1345081064
|
0.00001
|
NM_001365951.3(KIF1B):c.429+8C>T
|
rs756538021
|
0.00001
|
NM_001365951.3(KIF1B):c.4304+12A>G
|
rs769354139
|
0.00001
|
NM_001365951.3(KIF1B):c.432G>A (p.Val144=)
|
rs1252261304
|
0.00001
|
NM_001365951.3(KIF1B):c.4401G>A (p.Thr1467=)
|
rs754692148
|
0.00001
|
NM_001365951.3(KIF1B):c.4512+8G>A
|
rs1203024685
|
0.00001
|
NM_001365951.3(KIF1B):c.4513-14A>G
|
rs767589723
|
0.00001
|
NM_001365951.3(KIF1B):c.4581C>T (p.Ser1527=)
|
rs752321999
|
0.00001
|
NM_001365951.3(KIF1B):c.4611G>A (p.Gly1537=)
|
rs2521915001
|
0.00001
|
NM_001365951.3(KIF1B):c.4776T>A (p.Thr1592=)
|
rs757529397
|
0.00001
|
NM_001365951.3(KIF1B):c.4825-14C>T
|
rs994659492
|
0.00001
|
NM_001365951.3(KIF1B):c.4896C>T (p.Ser1632=)
|
rs1289105555
|
0.00001
|
NM_001365951.3(KIF1B):c.4899C>G (p.Ser1633=)
|
rs2521952189
|
0.00001
|
NM_001365951.3(KIF1B):c.4947-13C>G
|
rs1638826414
|
0.00001
|
NM_001365951.3(KIF1B):c.5052C>T (p.Asn1684=)
|
rs763518005
|
0.00001
|
NM_001365951.3(KIF1B):c.5097-11G>T
|
rs765592840
|
0.00001
|
NM_001365951.3(KIF1B):c.5097-8G>A
|
rs774748771
|
0.00001
|
NM_001365951.3(KIF1B):c.5172C>T (p.Val1724=)
|
rs1217853804
|
0.00001
|
NM_001365951.3(KIF1B):c.522T>C (p.Leu174=)
|
rs572314710
|
0.00001
|
NM_001365951.3(KIF1B):c.5289+12C>T
|
rs777701100
|
0.00001
|
NM_001365951.3(KIF1B):c.5289+15G>A
|
rs746880888
|
0.00001
|
NM_001365951.3(KIF1B):c.531T>C (p.Tyr177=)
|
rs769619599
|
0.00001
|
NM_001365951.3(KIF1B):c.5388A>C (p.Pro1796=)
|
rs1001768942
|
0.00001
|
NM_001365951.3(KIF1B):c.5397T>G (p.Ala1799=)
|
rs1323282527
|
0.00001
|
NM_001365951.3(KIF1B):c.5408+16G>A
|
rs1444483640
|
0.00001
|
NM_001365951.3(KIF1B):c.5408+20T>C
|
rs763639784
|
0.00001
|
NM_001365951.3(KIF1B):c.5408+8G>A
|
rs374713551
|
0.00001
|
NM_001365951.3(KIF1B):c.5409-16C>T
|
rs781661292
|
0.00001
|
NM_001365951.3(KIF1B):c.5409-4A>G
|
rs904332359
|
0.00001
|
NM_001365951.3(KIF1B):c.564C>T (p.Ser188=)
|
rs774503326
|
0.00001
|
NM_001365951.3(KIF1B):c.609-10G>A
|
rs1648575016
|
0.00001
|
NM_001365951.3(KIF1B):c.609-6A>C
|
rs1276227203
|
0.00001
|
NM_001365951.3(KIF1B):c.666G>A (p.Thr222=)
|
rs1648578056
|
0.00001
|
NM_001365951.3(KIF1B):c.687A>G (p.Lys229=)
|
rs770982802
|
0.00001
|
NM_001365951.3(KIF1B):c.6G>A (p.Ser2=)
|
rs1646993926
|
0.00001
|
NM_001365951.3(KIF1B):c.721-15A>G
|
rs755866386
|
0.00001
|
NM_001365951.3(KIF1B):c.721-18G>A
|
rs770340038
|
0.00001
|
NM_001365951.3(KIF1B):c.741G>A (p.Val247=)
|
rs1319873213
|
0.00001
|
NM_001365951.3(KIF1B):c.798+16A>G
|
rs938999422
|
0.00001
|
NM_001365951.3(KIF1B):c.798+8T>C
|
rs373158213
|
0.00001
|
NM_001365951.3(KIF1B):c.81C>T (p.Ile27=)
|
rs142464329
|
0.00001
|
NM_001365951.3(KIF1B):c.864+17A>G
|
rs528812490
|
0.00001
|
NM_001365951.3(KIF1B):c.978A>G (p.Ala326=)
|
rs1011233723
|
0.00001
|
NM_001365951.3(KIF1B):c.999C>T (p.Pro333=)
|
rs141637645
|
0.00001
|
NM_001376.5(DYNC1H1):c.10079+15G>A
|
rs766060724
|
0.00001
|
NM_001376.5(DYNC1H1):c.10080-11G>A
|
rs748557081
|
0.00001
|
NM_001376.5(DYNC1H1):c.10080-16C>T
|
rs774795089
|
0.00001
|
NM_001376.5(DYNC1H1):c.10080-17T>C
|
rs1407091074
|
0.00001
|
NM_001376.5(DYNC1H1):c.10128T>C (p.Ser3376=)
|
rs1230028056
|
0.00001
|
NM_001376.5(DYNC1H1):c.10131C>T (p.Tyr3377=)
|
rs1555411373
|
0.00001
|
NM_001376.5(DYNC1H1):c.10189A>G (p.Ile3397Val)
|
rs776331029
|
0.00001
|
NM_001376.5(DYNC1H1):c.10198-14T>C
|
rs2048530976
|
0.00001
|
NM_001376.5(DYNC1H1):c.10198-20T>C
|
rs780287500
|
0.00001
|
NM_001376.5(DYNC1H1):c.10206T>C (p.Tyr3402=)
|
rs368437659
|
0.00001
|
NM_001376.5(DYNC1H1):c.1020T>A (p.Pro340=)
|
rs550269731
|
0.00001
|
NM_001376.5(DYNC1H1):c.10227G>A (p.Val3409=)
|
rs1443971249
|
0.00001
|
NM_001376.5(DYNC1H1):c.10291A>G (p.Asn3431Asp)
|
rs1315999225
|
0.00001
|
NM_001376.5(DYNC1H1):c.10302G>A (p.Glu3434=)
|
rs761858922
|
0.00001
|
NM_001376.5(DYNC1H1):c.10313G>A (p.Arg3438Gln)
|
rs1375729860
|
0.00001
|
NM_001376.5(DYNC1H1):c.10353C>T (p.Tyr3451=)
|
rs752990027
|
0.00001
|
NM_001376.5(DYNC1H1):c.10356C>T (p.Ala3452=)
|
rs758827732
|
0.00001
|
NM_001376.5(DYNC1H1):c.1035G>A (p.Leu345=)
|
rs993263559
|
0.00001
|
NM_001376.5(DYNC1H1):c.10362G>A (p.Leu3454=)
|
rs1332684796
|
0.00001
|
NM_001376.5(DYNC1H1):c.10404C>T (p.Val3468=)
|
rs1453908555
|
0.00001
|
NM_001376.5(DYNC1H1):c.10413+16T>C
|
rs769305587
|
0.00001
|
NM_001376.5(DYNC1H1):c.10414-15C>T
|
rs2048541064
|
0.00001
|
NM_001376.5(DYNC1H1):c.10431T>C (p.Ala3477=)
|
rs962758825
|
0.00001
|
NM_001376.5(DYNC1H1):c.10437G>A (p.Leu3479=)
|
rs1172838845
|
0.00001
|
NM_001376.5(DYNC1H1):c.10443C>T (p.Ser3481=)
|
rs1293622479
|
0.00001
|
NM_001376.5(DYNC1H1):c.10461A>G (p.Glu3487=)
|
rs1291623487
|
0.00001
|
NM_001376.5(DYNC1H1):c.10473A>G (p.Lys3491=)
|
rs201109134
|
0.00001
|
NM_001376.5(DYNC1H1):c.10485T>C (p.Thr3495=)
|
rs768458167
|
0.00001
|
NM_001376.5(DYNC1H1):c.10551G>A (p.Ala3517=)
|
rs765302385
|
0.00001
|
NM_001376.5(DYNC1H1):c.10599C>T (p.Ser3533=)
|
rs1471861110
|
0.00001
|
NM_001376.5(DYNC1H1):c.10626+15G>A
|
rs757673952
|
0.00001
|
NM_001376.5(DYNC1H1):c.10627-6T>C
|
rs1555411461
|
0.00001
|
NM_001376.5(DYNC1H1):c.10656C>T (p.Tyr3552=)
|
rs587780329
|
0.00001
|
NM_001376.5(DYNC1H1):c.1068G>A (p.Ala356=)
|
rs772254712
|
0.00001
|
NM_001376.5(DYNC1H1):c.10694G>A (p.Ser3565Asn)
|
rs547814062
|
0.00001
|
NM_001376.5(DYNC1H1):c.10713C>T (p.Asp3571=)
|
rs1177988460
|
0.00001
|
NM_001376.5(DYNC1H1):c.10738C>G (p.Leu3580Val)
|
rs200525912
|
0.00001
|
NM_001376.5(DYNC1H1):c.10743A>C (p.Lys3581Asn)
|
rs768668529
|
0.00001
|
NM_001376.5(DYNC1H1):c.10751A>G (p.Asn3584Ser)
|
rs774439464
|
0.00001
|
NM_001376.5(DYNC1H1):c.10754+10C>T
|
rs186169554
|
0.00001
|
NM_001376.5(DYNC1H1):c.10754+11G>A
|
rs886050372
|
0.00001
|
NM_001376.5(DYNC1H1):c.10792G>A (p.Glu3598Lys)
|
rs1446944059
|
0.00001
|
NM_001376.5(DYNC1H1):c.10832G>A (p.Arg3611Gln)
|
rs760957660
|
0.00001
|
NM_001376.5(DYNC1H1):c.10842C>T (p.Phe3614=)
|
rs2048577882
|
0.00001
|
NM_001376.5(DYNC1H1):c.10851C>T (p.Asp3617=)
|
rs939486667
|
0.00001
|
NM_001376.5(DYNC1H1):c.10908+12C>T
|
rs751104428
|
0.00001
|
NM_001376.5(DYNC1H1):c.10908+17G>C
|
rs1300338057
|
0.00001
|
NM_001376.5(DYNC1H1):c.10908+7G>A
|
rs535476094
|
0.00001
|
NM_001376.5(DYNC1H1):c.10970G>C (p.Gly3657Ala)
|
rs761427653
|
0.00001
|
NM_001376.5(DYNC1H1):c.10974G>A (p.Gly3658=)
|
rs750210648
|
0.00001
|
NM_001376.5(DYNC1H1):c.10987A>G (p.Thr3663Ala)
|
rs200204286
|
0.00001
|
NM_001376.5(DYNC1H1):c.11055+9T>C
|
rs749721355
|
0.00001
|
NM_001376.5(DYNC1H1):c.11056-19C>G
|
rs971995928
|
0.00001
|
NM_001376.5(DYNC1H1):c.11058C>T (p.Val3686=)
|
rs1363138805
|
0.00001
|
NM_001376.5(DYNC1H1):c.11094T>C (p.Phe3698=)
|
rs750612199
|
0.00001
|
NM_001376.5(DYNC1H1):c.11106A>G (p.Thr3702=)
|
rs1595629352
|
0.00001
|
NM_001376.5(DYNC1H1):c.11130C>T (p.Ser3710=)
|
rs749713831
|
0.00001
|
NM_001376.5(DYNC1H1):c.11206+15T>C
|
rs1367369253
|
0.00001
|
NM_001376.5(DYNC1H1):c.11207-10T>C
|
rs750573277
|
0.00001
|
NM_001376.5(DYNC1H1):c.11259G>A (p.Leu3753=)
|
rs1401773071
|
0.00001
|
NM_001376.5(DYNC1H1):c.11262C>T (p.Asn3754=)
|
rs147204277
|
0.00001
|
NM_001376.5(DYNC1H1):c.11289C>T (p.Asp3763=)
|
rs1018095012
|
0.00001
|
NM_001376.5(DYNC1H1):c.11319G>A (p.Leu3773=)
|
rs777231661
|
0.00001
|
NM_001376.5(DYNC1H1):c.1131A>G (p.Ala377=)
|
rs1860614627
|
0.00001
|
NM_001376.5(DYNC1H1):c.11355G>A (p.Glu3785=)
|
rs1244409249
|
0.00001
|
NM_001376.5(DYNC1H1):c.11461-14C>A
|
rs748082103
|
0.00001
|
NM_001376.5(DYNC1H1):c.11461-15A>G
|
rs778599851
|
0.00001
|
NM_001376.5(DYNC1H1):c.11461-9_11461-8insG
|
rs762712158
|
0.00001
|
NM_001376.5(DYNC1H1):c.11514C>T (p.Asn3838=)
|
rs762348270
|
0.00001
|
NM_001376.5(DYNC1H1):c.11523C>T (p.Tyr3841=)
|
rs767968787
|
0.00001
|
NM_001376.5(DYNC1H1):c.11545G>A (p.Val3849Ile)
|
rs943487161
|
0.00001
|
NM_001376.5(DYNC1H1):c.11550C>T (p.Thr3850=)
|
rs772030587
|
0.00001
|
NM_001376.5(DYNC1H1):c.11572A>G (p.Ile3858Val)
|
rs768800353
|
0.00001
|
NM_001376.5(DYNC1H1):c.11589C>A (p.Leu3863=)
|
rs1286532855
|
0.00001
|
NM_001376.5(DYNC1H1):c.11595+10G>C
|
rs2048618961
|
0.00001
|
NM_001376.5(DYNC1H1):c.11595+18G>A
|
rs993526988
|
0.00001
|
NM_001376.5(DYNC1H1):c.11596-8T>C
|
rs763755699
|
0.00001
|
NM_001376.5(DYNC1H1):c.11596-9_11596-8del
|
rs1310742312
|
0.00001
|
NM_001376.5(DYNC1H1):c.11634G>C (p.Gln3878His)
|
rs144177631
|
0.00001
|
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile)
|
rs771563083
|
0.00001
|
NM_001376.5(DYNC1H1):c.11690+12C>A
|
rs1405537007
|
0.00001
|
NM_001376.5(DYNC1H1):c.11690+13A>G
|
rs2048622120
|
0.00001
|
NM_001376.5(DYNC1H1):c.11690+15G>A
|
rs1408065381
|
0.00001
|
NM_001376.5(DYNC1H1):c.11691-10C>T
|
rs771362494
|
0.00001
|
NM_001376.5(DYNC1H1):c.11691-15T>C
|
rs564877505
|
0.00001
|
NM_001376.5(DYNC1H1):c.11691-16G>T
|
rs778210714
|
0.00001
|
NM_001376.5(DYNC1H1):c.11697C>T (p.Pro3899=)
|
rs950073137
|
0.00001
|
NM_001376.5(DYNC1H1):c.11703C>T (p.Tyr3901=)
|
rs770372842
|
0.00001
|
NM_001376.5(DYNC1H1):c.11721C>A (p.His3907Gln)
|
rs774840535
|
0.00001
|
NM_001376.5(DYNC1H1):c.11725T>C (p.Leu3909=)
|
rs927269531
|
0.00001
|
NM_001376.5(DYNC1H1):c.11764C>T (p.Pro3922Ser)
|
rs1288938461
|
0.00001
|
NM_001376.5(DYNC1H1):c.11774A>G (p.Gln3925Arg)
|
rs760510345
|
0.00001
|
NM_001376.5(DYNC1H1):c.11785G>A (p.Val3929Met)
|
rs867293260
|
0.00001
|
NM_001376.5(DYNC1H1):c.11790G>A (p.Glu3930=)
|
rs2048632401
|
0.00001
|
NM_001376.5(DYNC1H1):c.11795C>T (p.Ala3932Val)
|
rs752716582
|
0.00001
|
NM_001376.5(DYNC1H1):c.11803G>A (p.Val3935Met)
|
rs770188348
|
0.00001
|
NM_001376.5(DYNC1H1):c.11808G>A (p.Val3936=)
|
rs749774459
|
0.00001
|
NM_001376.5(DYNC1H1):c.11865+10C>T
|
rs750746553
|
0.00001
|
NM_001376.5(DYNC1H1):c.11874C>T (p.Gly3958=)
|
rs748661090
|
0.00001
|
NM_001376.5(DYNC1H1):c.11895C>A (p.Ser3965=)
|
rs1178964821
|
0.00001
|
NM_001376.5(DYNC1H1):c.118C>T (p.Leu40=)
|
rs751157210
|
0.00001
|
NM_001376.5(DYNC1H1):c.1191C>T (p.Gly397=)
|
rs750305144
|
0.00001
|
NM_001376.5(DYNC1H1):c.11965C>T (p.Arg3989Cys)
|
rs142701168
|
0.00001
|
NM_001376.5(DYNC1H1):c.11966G>A (p.Arg3989His)
|
rs377516509
|
0.00001
|
NM_001376.5(DYNC1H1):c.11994C>T (p.Pro3998=)
|
rs1171187875
|
0.00001
|
NM_001376.5(DYNC1H1):c.12004T>C (p.Leu4002=)
|
rs1467108795
|
0.00001
|
NM_001376.5(DYNC1H1):c.12005T>C (p.Leu4002Ser)
|
rs771049687
|
0.00001
|
NM_001376.5(DYNC1H1):c.12076G>A (p.Asp4026Asn)
|
rs768636289
|
0.00001
|
NM_001376.5(DYNC1H1):c.12078C>T (p.Asp4026=)
|
rs2048652053
|
0.00001
|
NM_001376.5(DYNC1H1):c.12102+14A>G
|
rs759719669
|
0.00001
|
NM_001376.5(DYNC1H1):c.12102+15C>T
|
rs1223174519
|
0.00001
|
NM_001376.5(DYNC1H1):c.12102+9C>A
|
rs2048652701
|
0.00001
|
NM_001376.5(DYNC1H1):c.12113A>G (p.Asn4038Ser)
|
rs768853660
|
0.00001
|
NM_001376.5(DYNC1H1):c.12117T>C (p.Thr4039=)
|
rs368830742
|
0.00001
|
NM_001376.5(DYNC1H1):c.12189C>T (p.Asn4063=)
|
rs1247191267
|
0.00001
|
NM_001376.5(DYNC1H1):c.12214+12T>C
|
rs749431112
|
0.00001
|
NM_001376.5(DYNC1H1):c.12214+16G>A
|
rs774566858
|
0.00001
|
NM_001376.5(DYNC1H1):c.12215-15G>A
|
rs2048660534
|
0.00001
|
NM_001376.5(DYNC1H1):c.12222A>G (p.Ala4074=)
|
rs1405492583
|
0.00001
|
NM_001376.5(DYNC1H1):c.12250A>G (p.Ile4084Val)
|
rs992393537
|
0.00001
|
NM_001376.5(DYNC1H1):c.12259G>A (p.Ala4087Thr)
|
rs1394701012
|
0.00001
|
NM_001376.5(DYNC1H1):c.12275+7C>G
|
rs778316869
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276-17T>C
|
rs758737122
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276-4G>A
|
rs781673531
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276-6G>A
|
rs1595631975
|
0.00001
|
NM_001376.5(DYNC1H1):c.12276G>A (p.Arg4092=)
|
rs746372351
|
0.00001
|
NM_001376.5(DYNC1H1):c.12303G>A (p.Leu4101=)
|
rs150851798
|
0.00001
|
NM_001376.5(DYNC1H1):c.12309A>G (p.Pro4103=)
|
rs2503858929
|
0.00001
|
NM_001376.5(DYNC1H1):c.12350A>G (p.Gln4117Arg)
|
rs377620179
|
0.00001
|
NM_001376.5(DYNC1H1):c.123G>A (p.Leu41=)
|
rs1260546515
|
0.00001
|
NM_001376.5(DYNC1H1):c.12400-14G>A
|
rs2048666171
|
0.00001
|
NM_001376.5(DYNC1H1):c.12423G>A (p.Ala4141=)
|
rs757449756
|
0.00001
|
NM_001376.5(DYNC1H1):c.12495C>T (p.Pro4165=)
|
rs778319883
|
0.00001
|
NM_001376.5(DYNC1H1):c.12513+15C>T
|
rs746850569
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-12T>C
|
rs781162443
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-16T>C
|
rs770798340
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-3C>T
|
rs761866611
|
0.00001
|
NM_001376.5(DYNC1H1):c.12514-5A>G
|
rs774476953
|
0.00001
|
NM_001376.5(DYNC1H1):c.12519C>T (p.Pro4173=)
|
rs1489755183
|
0.00001
|
NM_001376.5(DYNC1H1):c.12521A>G (p.Asn4174Ser)
|
rs772206416
|
0.00001
|
NM_001376.5(DYNC1H1):c.12522C>T (p.Asn4174=)
|
rs1246826432
|
0.00001
|
NM_001376.5(DYNC1H1):c.12535T>C (p.Leu4179=)
|
rs923832247
|
0.00001
|
NM_001376.5(DYNC1H1):c.12552C>A (p.Ala4184=)
|
rs528947377
|
0.00001
|
NM_001376.5(DYNC1H1):c.12573A>G (p.Gln4191=)
|
rs760020083
|
0.00001
|
NM_001376.5(DYNC1H1):c.12576A>G (p.Glu4192=)
|
rs765728188
|
0.00001
|
NM_001376.5(DYNC1H1):c.12600G>T (p.Gly4200=)
|
rs1595633027
|
0.00001
|
NM_001376.5(DYNC1H1):c.12606A>G (p.Ser4202=)
|
rs745717505
|
0.00001
|
NM_001376.5(DYNC1H1):c.1260T>G (p.Phe420Leu)
|
rs1367292809
|
0.00001
|
NM_001376.5(DYNC1H1):c.12639G>A (p.Arg4213=)
|
rs1289916492
|
0.00001
|
NM_001376.5(DYNC1H1):c.12648C>T (p.Cys4216=)
|
rs772003695
|
0.00001
|
NM_001376.5(DYNC1H1):c.12653C>T (p.Thr4218Met)
|
rs773319640
|
0.00001
|
NM_001376.5(DYNC1H1):c.12684+11G>A
|
rs983796995
|
0.00001
|
NM_001376.5(DYNC1H1):c.12684+16G>C
|
rs763549678
|
0.00001
|
NM_001376.5(DYNC1H1):c.12697A>G (p.Ile4233Val)
|
rs1486511807
|
0.00001
|
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=)
|
rs199792795
|
0.00001
|
NM_001376.5(DYNC1H1):c.12714C>T (p.Ile4238=)
|
rs1200819052
|
0.00001
|
NM_001376.5(DYNC1H1):c.12717G>A (p.Pro4239=)
|
rs753722628
|
0.00001
|
NM_001376.5(DYNC1H1):c.12726A>G (p.Ala4242=)
|
rs1267261242
|
0.00001
|
NM_001376.5(DYNC1H1):c.12762G>T (p.Gly4254=)
|
rs746049414
|
0.00001
|
NM_001376.5(DYNC1H1):c.12766G>C (p.Val4256Leu)
|
rs376420321
|
0.00001
|
NM_001376.5(DYNC1H1):c.12797A>G (p.Asn4266Ser)
|
rs760229878
|
0.00001
|
NM_001376.5(DYNC1H1):c.12798C>T (p.Asn4266=)
|
rs766119476
|
0.00001
|
NM_001376.5(DYNC1H1):c.12835G>A (p.Asp4279Asn)
|
rs142900209
|
0.00001
|
NM_001376.5(DYNC1H1):c.12850C>T (p.Leu4284=)
|
rs1275176699
|
0.00001
|
NM_001376.5(DYNC1H1):c.12864C>T (p.Val4288=)
|
rs1264893844
|
0.00001
|
NM_001376.5(DYNC1H1):c.12867C>T (p.Asp4289=)
|
rs571858561
|
0.00001
|
NM_001376.5(DYNC1H1):c.12879C>T (p.Asp4293=)
|
rs772763192
|
0.00001
|
NM_001376.5(DYNC1H1):c.12883C>G (p.Gln4295Glu)
|
rs772591144
|
0.00001
|
NM_001376.5(DYNC1H1):c.12903-15G>A
|
rs745501667
|
0.00001
|
NM_001376.5(DYNC1H1):c.12954C>T (p.Pro4318=)
|
rs766459266
|
0.00001
|
NM_001376.5(DYNC1H1):c.12C>T (p.Pro4=)
|
rs777616661
|
0.00001
|
NM_001376.5(DYNC1H1):c.13006+17C>T
|
rs2048694171
|
0.00001
|
NM_001376.5(DYNC1H1):c.13007-16T>G
|
rs755574771
|
0.00001
|
NM_001376.5(DYNC1H1):c.13007-5C>T
|
rs779572264
|
0.00001
|
NM_001376.5(DYNC1H1):c.13059C>T (p.Asp4353=)
|
rs773232010
|
0.00001
|
NM_001376.5(DYNC1H1):c.13107G>A (p.Thr4369=)
|
rs369577172
|
0.00001
|
NM_001376.5(DYNC1H1):c.13111G>A (p.Asp4371Asn)
|
rs778370920
|
0.00001
|
NM_001376.5(DYNC1H1):c.1311C>T (p.Ile437=)
|
rs1423241445
|
0.00001
|
NM_001376.5(DYNC1H1):c.13125C>T (p.Ala4375=)
|
rs1420364166
|
0.00001
|
NM_001376.5(DYNC1H1):c.1312G>A (p.Val438Ile)
|
rs1034508175
|
0.00001
|
NM_001376.5(DYNC1H1):c.13132C>T (p.Arg4378Trp)
|
rs777747436
|
0.00001
|
NM_001376.5(DYNC1H1):c.13150G>A (p.Ala4384Thr)
|
rs768797999
|
0.00001
|
NM_001376.5(DYNC1H1):c.13155C>T (p.Ser4385=)
|
rs1336353690
|
0.00001
|
NM_001376.5(DYNC1H1):c.13157A>G (p.Asn4386Ser)
|
rs201575292
|
0.00001
|
NM_001376.5(DYNC1H1):c.13166A>G (p.His4389Arg)
|
rs1206639344
|
0.00001
|
NM_001376.5(DYNC1H1):c.13182G>A (p.Thr4394=)
|
rs754395575
|
0.00001
|
NM_001376.5(DYNC1H1):c.1318A>C (p.Arg440=)
|
rs1566997890
|
0.00001
|
NM_001376.5(DYNC1H1):c.13218+20G>A
|
rs1317418503
|
0.00001
|
NM_001376.5(DYNC1H1):c.13219-8G>A
|
rs370812794
|
0.00001
|
NM_001376.5(DYNC1H1):c.13233G>A (p.Arg4411=)
|
rs748158145
|
0.00001
|
NM_001376.5(DYNC1H1):c.13282C>T (p.Arg4428Cys)
|
rs770395590
|
0.00001
|
NM_001376.5(DYNC1H1):c.13327A>C (p.Lys4443Gln)
|
rs753794752
|
0.00001
|
NM_001376.5(DYNC1H1):c.13372+14C>T
|
rs537023632
|
0.00001
|
NM_001376.5(DYNC1H1):c.13372+15G>A
|
rs200190286
|
0.00001
|
NM_001376.5(DYNC1H1):c.13397A>T (p.His4466Leu)
|
rs747634585
|
0.00001
|
NM_001376.5(DYNC1H1):c.13403C>T (p.Thr4468Met)
|
rs899591600
|
0.00001
|
NM_001376.5(DYNC1H1):c.13408C>T (p.Pro4470Ser)
|
rs150906249
|
0.00001
|
NM_001376.5(DYNC1H1):c.13413C>T (p.Ala4471=)
|
rs776463183
|
0.00001
|
NM_001376.5(DYNC1H1):c.13422C>T (p.Thr4474=)
|
rs765088845
|
0.00001
|
NM_001376.5(DYNC1H1):c.13431G>T (p.Gln4477His)
|
rs1395483626
|
0.00001
|
NM_001376.5(DYNC1H1):c.13446C>T (p.Phe4482=)
|
rs1197568157
|
0.00001
|
NM_001376.5(DYNC1H1):c.13467G>A (p.Leu4489=)
|
rs1410594862
|
0.00001
|
NM_001376.5(DYNC1H1):c.13470G>A (p.Gln4490=)
|
rs780553042
|
0.00001
|
NM_001376.5(DYNC1H1):c.13500C>T (p.Gly4500=)
|
rs755400498
|
0.00001
|
NM_001376.5(DYNC1H1):c.13509G>T (p.Glu4503Asp)
|
rs1304570979
|
0.00001
|
NM_001376.5(DYNC1H1):c.13512A>T (p.Leu4504=)
|
rs557163093
|
0.00001
|
NM_001376.5(DYNC1H1):c.13516-5C>T
|
rs774351913
|
0.00001
|
NM_001376.5(DYNC1H1):c.13524C>T (p.His4508=)
|
rs565247634
|
0.00001
|
NM_001376.5(DYNC1H1):c.13539C>G (p.Gly4513=)
|
rs1165803933
|
0.00001
|
NM_001376.5(DYNC1H1):c.13546G>A (p.Val4516Met)
|
rs1158295938
|
0.00001
|
NM_001376.5(DYNC1H1):c.13606C>T (p.Leu4536=)
|
rs753065831
|
0.00001
|
NM_001376.5(DYNC1H1):c.13632C>T (p.Asn4544=)
|
rs1278422408
|
0.00001
|
NM_001376.5(DYNC1H1):c.13643C>T (p.Ser4548Leu)
|
rs377323091
|
0.00001
|
NM_001376.5(DYNC1H1):c.13650C>T (p.Gly4550=)
|
rs745501457
|
0.00001
|
NM_001376.5(DYNC1H1):c.13652C>T (p.Ala4551Val)
|
rs1181756021
|
0.00001
|
NM_001376.5(DYNC1H1):c.13662C>T (p.Asp4554=)
|
rs779894891
|
0.00001
|
NM_001376.5(DYNC1H1):c.13674C>T (p.Phe4558=)
|
rs774109669
|
0.00001
|
NM_001376.5(DYNC1H1):c.13706C>T (p.Thr4569Met)
|
rs1007361669
|
0.00001
|
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=)
|
rs886050377
|
0.00001
|
NM_001376.5(DYNC1H1):c.13731G>T (p.Leu4577=)
|
rs758277590
|
0.00001
|
NM_001376.5(DYNC1H1):c.13734C>A (p.Ser4578=)
|
rs201665825
|
0.00001
|
NM_001376.5(DYNC1H1):c.13749C>T (p.Thr4583=)
|
rs746971715
|
0.00001
|
NM_001376.5(DYNC1H1):c.13757C>T (p.Pro4586Leu)
|
rs1273077328
|
0.00001
|
NM_001376.5(DYNC1H1):c.13761G>A (p.Leu4587=)
|
rs879127737
|
0.00001
|
NM_001376.5(DYNC1H1):c.13763C>T (p.Thr4588Met)
|
rs200971499
|
0.00001
|
NM_001376.5(DYNC1H1):c.13771C>T (p.Arg4591Cys)
|
rs765362140
|
0.00001
|
NM_001376.5(DYNC1H1):c.13772G>A (p.Arg4591His)
|
rs544530887
|
0.00001
|
NM_001376.5(DYNC1H1):c.13794C>T (p.Thr4598=)
|
rs765791872
|
0.00001
|
NM_001376.5(DYNC1H1):c.13795G>A (p.Glu4599Lys)
|
rs753454594
|
0.00001
|
NM_001376.5(DYNC1H1):c.1380G>A (p.Gln460=)
|
rs1432813058
|
0.00001
|
NM_001376.5(DYNC1H1):c.13813-15C>G
|
rs1376176000
|
0.00001
|
NM_001376.5(DYNC1H1):c.13813-17C>T
|
rs1340857815
|
0.00001
|
NM_001376.5(DYNC1H1):c.13827C>G (p.Val4609=)
|
rs752364441
|
0.00001
|
NM_001376.5(DYNC1H1):c.13831C>T (p.Leu4611=)
|
rs567441940
|
0.00001
|
NM_001376.5(DYNC1H1):c.13854C>T (p.Leu4618=)
|
rs112650569
|
0.00001
|
NM_001376.5(DYNC1H1):c.13864G>A (p.Val4622Met)
|
rs757007288
|
0.00001
|
NM_001376.5(DYNC1H1):c.13866G>A (p.Val4622=)
|
rs781130520
|
0.00001
|
NM_001376.5(DYNC1H1):c.13887G>A (p.Lys4629=)
|
rs141961494
|
0.00001
|
NM_001376.5(DYNC1H1):c.13890G>A (p.Glu4630=)
|
rs1369279982
|
0.00001
|
NM_001376.5(DYNC1H1):c.13898G>A (p.Arg4633His)
|
rs566253677
|
0.00001
|
NM_001376.5(DYNC1H1):c.13920C>T (p.Val4640=)
|
rs573332348
|
0.00001
|
NM_001376.5(DYNC1H1):c.13940A>G (p.Ter4647=)
|
rs1425934204
|
0.00001
|
NM_001376.5(DYNC1H1):c.1395G>A (p.Gln465=)
|
rs747183743
|
0.00001
|
NM_001376.5(DYNC1H1):c.1410A>G (p.Arg470=)
|
rs1060504508
|
0.00001
|
NM_001376.5(DYNC1H1):c.1462-20T>G
|
rs781507402
|
0.00001
|
NM_001376.5(DYNC1H1):c.1462-6C>T
|
rs776545422
|
0.00001
|
NM_001376.5(DYNC1H1):c.1479A>G (p.Gln493=)
|
rs761306770
|
0.00001
|
NM_001376.5(DYNC1H1):c.1505C>T (p.Pro502Leu)
|
rs1435555404
|
0.00001
|
NM_001376.5(DYNC1H1):c.1509A>G (p.Gln503=)
|
rs1057522046
|
0.00001
|
NM_001376.5(DYNC1H1):c.1533C>T (p.Leu511=)
|
rs759388059
|
0.00001
|
NM_001376.5(DYNC1H1):c.1608G>A (p.Leu536=)
|
rs1276854267
|
0.00001
|
NM_001376.5(DYNC1H1):c.1620A>G (p.Lys540=)
|
rs1213499788
|
0.00001
|
NM_001376.5(DYNC1H1):c.1628C>T (p.Thr543Met)
|
rs780247153
|
0.00001
|
NM_001376.5(DYNC1H1):c.1629G>A (p.Thr543=)
|
rs754292695
|
0.00001
|
NM_001376.5(DYNC1H1):c.1683G>A (p.Glu561=)
|
rs1194411306
|
0.00001
|
NM_001376.5(DYNC1H1):c.1696G>A (p.Ala566Thr)
|
rs2047931731
|
0.00001
|
NM_001376.5(DYNC1H1):c.1761G>A (p.Arg587=)
|
rs1270316691
|
0.00001
|
NM_001376.5(DYNC1H1):c.1767T>C (p.Asn589=)
|
rs769481018
|
0.00001
|
NM_001376.5(DYNC1H1):c.1806C>T (p.Arg602=)
|
rs145526188
|
0.00001
|
NM_001376.5(DYNC1H1):c.1833C>T (p.Arg611=)
|
rs2047933360
|
0.00001
|
NM_001376.5(DYNC1H1):c.1836G>A (p.Val612=)
|
rs2047933410
|
0.00001
|
NM_001376.5(DYNC1H1):c.1878G>A (p.Gln626=)
|
rs758946754
|
0.00001
|
NM_001376.5(DYNC1H1):c.1887G>T (p.Gln629His)
|
rs777262223
|
0.00001
|
NM_001376.5(DYNC1H1):c.1899T>C (p.Cys633=)
|
rs770360380
|
0.00001
|
NM_001376.5(DYNC1H1):c.1912G>A (p.Val638Ile)
|
rs1383117534
|
0.00001
|
NM_001376.5(DYNC1H1):c.1962C>T (p.Ile654=)
|
rs768776793
|
0.00001
|
NM_001376.5(DYNC1H1):c.1968G>A (p.Arg656=)
|
rs760745383
|
0.00001
|
NM_001376.5(DYNC1H1):c.1977G>A (p.Thr659=)
|
rs151170554
|
0.00001
|
NM_001376.5(DYNC1H1):c.2010C>T (p.Gly670=)
|
rs372736615
|
0.00001
|
NM_001376.5(DYNC1H1):c.207T>G (p.Leu69=)
|
rs2503644541
|
0.00001
|
NM_001376.5(DYNC1H1):c.2124G>A (p.Gln708=)
|
rs1157353313
|
0.00001
|
NM_001376.5(DYNC1H1):c.2142G>A (p.Ser714=)
|
rs532074498
|
0.00001
|
NM_001376.5(DYNC1H1):c.2177G>A (p.Arg726Gln)
|
rs199986472
|
0.00001
|
NM_001376.5(DYNC1H1):c.2181C>T (p.Gly727=)
|
rs1203393217
|
0.00001
|
NM_001376.5(DYNC1H1):c.219G>A (p.Gln73=)
|
rs1298244911
|
0.00001
|
NM_001376.5(DYNC1H1):c.21C>T (p.Gly7=)
|
rs1310676460
|
0.00001
|
NM_001376.5(DYNC1H1):c.2202G>A (p.Lys734=)
|
rs755775543
|
0.00001
|
NM_001376.5(DYNC1H1):c.223C>T (p.His75Tyr)
|
rs1162552295
|
0.00001
|
NM_001376.5(DYNC1H1):c.2262A>G (p.Lys754=)
|
rs528972169
|
0.00001
|
NM_001376.5(DYNC1H1):c.2278G>A (p.Val760Ile)
|
rs781320162
|
0.00001
|
NM_001376.5(DYNC1H1):c.2289G>A (p.Ala763=)
|
rs763184509
|
0.00001
|
NM_001376.5(DYNC1H1):c.22G>A (p.Gly8Ser)
|
rs774412818
|
0.00001
|
NM_001376.5(DYNC1H1):c.2331T>C (p.Phe777=)
|
rs1186857563
|
0.00001
|
NM_001376.5(DYNC1H1):c.2334C>A (p.Ala778=)
|
rs957105344
|
0.00001
|
NM_001376.5(DYNC1H1):c.2364T>C (p.Tyr788=)
|
rs1385501057
|
0.00001
|
NM_001376.5(DYNC1H1):c.2369G>A (p.Arg790Gln)
|
rs371431746
|
0.00001
|
NM_001376.5(DYNC1H1):c.2377G>A (p.Glu793Lys)
|
rs777505460
|
0.00001
|
NM_001376.5(DYNC1H1):c.2382G>A (p.Lys794=)
|
rs746999262
|
0.00001
|
NM_001376.5(DYNC1H1):c.2393G>A (p.Arg798Gln)
|
rs768932305
|
0.00001
|
NM_001376.5(DYNC1H1):c.2400C>G (p.Thr800=)
|
rs146746729
|
0.00001
|
NM_001376.5(DYNC1H1):c.2421C>T (p.Gly807=)
|
rs2047940446
|
0.00001
|
NM_001376.5(DYNC1H1):c.2441C>G (p.Ala814Gly)
|
rs140342004
|
0.00001
|
NM_001376.5(DYNC1H1):c.2446A>G (p.Ile816Val)
|
rs986169838
|
0.00001
|
NM_001376.5(DYNC1H1):c.2449G>A (p.Ala817Thr)
|
rs753467717
|
0.00001
|
NM_001376.5(DYNC1H1):c.2463G>A (p.Ala821=)
|
rs764740993
|
0.00001
|
NM_001376.5(DYNC1H1):c.2493A>G (p.Pro831=)
|
rs777646914
|
0.00001
|
NM_001376.5(DYNC1H1):c.2496T>C (p.Tyr832=)
|
rs751475618
|
0.00001
|
NM_001376.5(DYNC1H1):c.249G>C (p.Thr83=)
|
rs1024563256
|
0.00001
|
NM_001376.5(DYNC1H1):c.2508A>G (p.Leu836=)
|
rs2047941576
|
0.00001
|
NM_001376.5(DYNC1H1):c.2538+19C>T
|
rs1299143976
|
0.00001
|
NM_001376.5(DYNC1H1):c.2539-16A>G
|
rs767381993
|
0.00001
|
NM_001376.5(DYNC1H1):c.2539-7C>T
|
rs960086644
|
0.00001
|
NM_001376.5(DYNC1H1):c.257-9G>A
|
rs200907076
|
0.00001
|
NM_001376.5(DYNC1H1):c.2580A>G (p.Glu860=)
|
rs1343789593
|
0.00001
|
NM_001376.5(DYNC1H1):c.2589C>G (p.Ser863=)
|
rs999288773
|
0.00001
|
NM_001376.5(DYNC1H1):c.2590T>C (p.Leu864=)
|
rs747323088
|
0.00001
|
NM_001376.5(DYNC1H1):c.2601T>C (p.Cys867=)
|
rs1411887990
|
0.00001
|
NM_001376.5(DYNC1H1):c.264C>T (p.Val88=)
|
rs747503901
|
0.00001
|
NM_001376.5(DYNC1H1):c.2650G>T (p.Ala884Ser)
|
rs775105649
|
0.00001
|
NM_001376.5(DYNC1H1):c.2652A>G (p.Ala884=)
|
rs762508534
|
0.00001
|
NM_001376.5(DYNC1H1):c.265G>A (p.Gly89Ser)
|
rs749973847
|
0.00001
|
NM_001376.5(DYNC1H1):c.2673C>T (p.His891=)
|
rs761526533
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-11G>A
|
rs1166917410
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>C
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-15T>G
|
rs748772899
|
0.00001
|
NM_001376.5(DYNC1H1):c.2719-19G>C
|
rs563812905
|
0.00001
|
NM_001376.5(DYNC1H1):c.2736C>T (p.Gly912=)
|
rs201391933
|
0.00001
|
NM_001376.5(DYNC1H1):c.2754C>T (p.Gly918=)
|
rs543139363
|
0.00001
|
NM_001376.5(DYNC1H1):c.279A>G (p.Glu93=)
|
rs1489863193
|
0.00001
|
NM_001376.5(DYNC1H1):c.282A>G (p.Glu94=)
|
rs1566995011
|
0.00001
|
NM_001376.5(DYNC1H1):c.2868+10T>A
|
rs1180151750
|
0.00001
|
NM_001376.5(DYNC1H1):c.2910C>T (p.Tyr970=)
|
rs2503708213
|
0.00001
|
NM_001376.5(DYNC1H1):c.2922A>G (p.Pro974=)
|
rs963837216
|
0.00001
|
NM_001376.5(DYNC1H1):c.2964C>T (p.Ala988=)
|
rs192263501
|
0.00001
|
NM_001376.5(DYNC1H1):c.3012C>T (p.Tyr1004=)
|
rs139087346
|
0.00001
|
NM_001376.5(DYNC1H1):c.3021T>C (p.Gly1007=)
|
rs538736432
|
0.00001
|
NM_001376.5(DYNC1H1):c.3051A>G (p.Lys1017=)
|
rs781028481
|
0.00001
|
NM_001376.5(DYNC1H1):c.3084T>G (p.Asp1028Glu)
|
rs775528195
|
0.00001
|
NM_001376.5(DYNC1H1):c.3088C>T (p.Pro1030Ser)
|
rs570408889
|
0.00001
|
NM_001376.5(DYNC1H1):c.3108G>A (p.Ser1036=)
|
rs1003539123
|
0.00001
|
NM_001376.5(DYNC1H1):c.3129T>C (p.Ile1043=)
|
rs2141280477
|
0.00001
|
NM_001376.5(DYNC1H1):c.3132A>G (p.Val1044=)
|
rs771003972
|
0.00001
|
NM_001376.5(DYNC1H1):c.3157-15G>A
|
rs776789534
|
0.00001
|
NM_001376.5(DYNC1H1):c.3201C>T (p.Asn1067=)
|
rs770114315
|
0.00001
|
NM_001376.5(DYNC1H1):c.3234A>G (p.Lys1078=)
|
rs1159122651
|
0.00001
|
NM_001376.5(DYNC1H1):c.3276C>T (p.Thr1092=)
|
rs1192941627
|
0.00001
|
NM_001376.5(DYNC1H1):c.3288A>G (p.Ala1096=)
|
rs1449056694
|
0.00001
|
NM_001376.5(DYNC1H1):c.3312A>G (p.Pro1104=)
|
rs1423371825
|
0.00001
|
NM_001376.5(DYNC1H1):c.3333+9T>A
|
rs754809408
|
0.00001
|
NM_001376.5(DYNC1H1):c.3334-5C>T
|
rs781237553
|
0.00001
|
NM_001376.5(DYNC1H1):c.3396G>A (p.Gly1132=)
|
rs202121407
|
0.00001
|
NM_001376.5(DYNC1H1):c.3420G>A (p.Thr1140=)
|
rs144002471
|
0.00001
|
NM_001376.5(DYNC1H1):c.3429T>C (p.His1143=)
|
rs776128986
|
0.00001
|
NM_001376.5(DYNC1H1):c.344+8G>A
|
rs1394913488
|
0.00001
|
NM_001376.5(DYNC1H1):c.3445-5A>T
|
rs1329418367
|
0.00001
|
NM_001376.5(DYNC1H1):c.345-4T>G
|
rs1060504510
|
0.00001
|
NM_001376.5(DYNC1H1):c.345-7T>C
|
rs752511770
|
0.00001
|
NM_001376.5(DYNC1H1):c.345-8del
|
rs2047836588
|
0.00001
|
NM_001376.5(DYNC1H1):c.3492C>T (p.Ser1164=)
|
rs759097348
|
0.00001
|
NM_001376.5(DYNC1H1):c.3519G>A (p.Val1173=)
|
rs1369627542
|
0.00001
|
NM_001376.5(DYNC1H1):c.351A>G (p.Ala117=)
|
rs2047836821
|
0.00001
|
NM_001376.5(DYNC1H1):c.3575A>G (p.Asn1192Ser)
|
rs761720831
|
0.00001
|
NM_001376.5(DYNC1H1):c.3591G>A (p.Leu1197=)
|
rs750329037
|
0.00001
|
NM_001376.5(DYNC1H1):c.3663C>T (p.Phe1221=)
|
rs2048071642
|
0.00001
|
NM_001376.5(DYNC1H1):c.366T>C (p.Thr122=)
|
rs527943422
|
0.00001
|
NM_001376.5(DYNC1H1):c.370G>A (p.Val124Met)
|
rs749548033
|
0.00001
|
NM_001376.5(DYNC1H1):c.3720A>G (p.Gln1240=)
|
rs2048072242
|
0.00001
|
NM_001376.5(DYNC1H1):c.3745G>A (p.Ala1249Thr)
|
rs2141282710
|
0.00001
|
NM_001376.5(DYNC1H1):c.3747C>T (p.Ala1249=)
|
rs748930886
|
0.00001
|
NM_001376.5(DYNC1H1):c.3845T>C (p.Ile1282Thr)
|
rs1479995920
|
0.00001
|
NM_001376.5(DYNC1H1):c.3873G>A (p.Lys1291=)
|
rs138014752
|
0.00001
|
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=)
|
rs2273439
|
0.00001
|
NM_001376.5(DYNC1H1):c.393G>A (p.Val131=)
|
rs748585839
|
0.00001
|
NM_001376.5(DYNC1H1):c.3954C>T (p.Arg1318=)
|
rs766750527
|
0.00001
|
NM_001376.5(DYNC1H1):c.3955G>A (p.Val1319Met)
|
rs370976687
|
0.00001
|
NM_001376.5(DYNC1H1):c.3960+12T>C
|
rs2048113636
|
0.00001
|
NM_001376.5(DYNC1H1):c.3961-18T>C
|
rs538010608
|
0.00001
|
NM_001376.5(DYNC1H1):c.3990A>G (p.Lys1330=)
|
rs568024941
|
0.00001
|
NM_001376.5(DYNC1H1):c.4074+11A>T
|
rs368040742
|
0.00001
|
NM_001376.5(DYNC1H1):c.407G>A (p.Arg136Gln)
|
rs996476189
|
0.00001
|
NM_001376.5(DYNC1H1):c.4125C>T (p.Ala1375=)
|
rs755008615
|
0.00001
|
NM_001376.5(DYNC1H1):c.4179C>T (p.Tyr1393=)
|
rs1331078199
|
0.00001
|
NM_001376.5(DYNC1H1):c.4185+14_4185+16dup
|
rs770371938
|
0.00001
|
NM_001376.5(DYNC1H1):c.4185+17G>A
|
rs570358936
|
0.00001
|
NM_001376.5(DYNC1H1):c.4215C>T (p.Ser1405=)
|
rs748713162
|
0.00001
|
NM_001376.5(DYNC1H1):c.4310T>C (p.Val1437Ala)
|
rs1305638906
|
0.00001
|
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=)
|
rs533327200
|
0.00001
|
NM_001376.5(DYNC1H1):c.4332G>A (p.Ala1444=)
|
rs767574253
|
0.00001
|
NM_001376.5(DYNC1H1):c.4362A>G (p.Gln1454=)
|
rs755371820
|
0.00001
|
NM_001376.5(DYNC1H1):c.438C>T (p.Tyr146=)
|
rs764884119
|
0.00001
|
NM_001376.5(DYNC1H1):c.4395+10A>G
|
rs1226325395
|
0.00001
|
NM_001376.5(DYNC1H1):c.4395+19C>T
|
rs776326398
|
0.00001
|
NM_001376.5(DYNC1H1):c.4395+20G>A
|
rs377176132
|
0.00001
|
NM_001376.5(DYNC1H1):c.4395+9T>C
|
rs531664263
|
0.00001
|
NM_001376.5(DYNC1H1):c.4419T>C (p.Tyr1473=)
|
rs747519168
|
0.00001
|
NM_001376.5(DYNC1H1):c.4428C>T (p.Asp1476=)
|
rs756763142
|
0.00001
|
NM_001376.5(DYNC1H1):c.4429T>C (p.Leu1477=)
|
rs555992808
|
0.00001
|
NM_001376.5(DYNC1H1):c.4461C>A (p.Ile1487=)
|
rs745509545
|
0.00001
|
NM_001376.5(DYNC1H1):c.4491C>G (p.Val1497=)
|
rs1703505053
|
0.00001
|
NM_001376.5(DYNC1H1):c.4510G>A (p.Val1504Ile)
|
rs761695197
|
0.00001
|
NM_001376.5(DYNC1H1):c.4527C>T (p.Leu1509=)
|
rs2048132127
|
0.00001
|
NM_001376.5(DYNC1H1):c.4543-11C>T
|
rs773204483
|
0.00001
|
NM_001376.5(DYNC1H1):c.4543-16C>T
|
rs771846165
|
0.00001
|
NM_001376.5(DYNC1H1):c.4543-5A>C
|
rs903101532
|
0.00001
|
NM_001376.5(DYNC1H1):c.455T>A (p.Phe152Tyr)
|
rs549896767
|
0.00001
|
NM_001376.5(DYNC1H1):c.456C>T (p.Phe152=)
|
rs148062994
|
0.00001
|
NM_001376.5(DYNC1H1):c.4605T>C (p.Asp1535=)
|
rs763337812
|
0.00001
|
NM_001376.5(DYNC1H1):c.4635C>T (p.Val1545=)
|
rs1416911485
|
0.00001
|
NM_001376.5(DYNC1H1):c.4659C>T (p.Gly1553=)
|
rs750945941
|
0.00001
|
NM_001376.5(DYNC1H1):c.465T>C (p.Asn155=)
|
rs2503678124
|
0.00001
|
NM_001376.5(DYNC1H1):c.4699C>A (p.Arg1567=)
|
rs377013246
|
0.00001
|
NM_001376.5(DYNC1H1):c.4701G>T (p.Arg1567=)
|
rs747831042
|
0.00001
|
NM_001376.5(DYNC1H1):c.4709+11C>T
|
rs1382089611
|
0.00001
|
NM_001376.5(DYNC1H1):c.4709+17G>A
|
rs1435770920
|
0.00001
|
NM_001376.5(DYNC1H1):c.4752G>A (p.Lys1584=)
|
rs1436095321
|
0.00001
|
NM_001376.5(DYNC1H1):c.4765A>G (p.Met1589Val)
|
rs376671826
|
0.00001
|
NM_001376.5(DYNC1H1):c.4773T>C (p.Val1591=)
|
rs2048147772
|
0.00001
|
NM_001376.5(DYNC1H1):c.4851A>C (p.Glu1617Asp)
|
rs1060502204
|
0.00001
|
NM_001376.5(DYNC1H1):c.4855C>T (p.Leu1619=)
|
rs761039840
|
0.00001
|
NM_001376.5(DYNC1H1):c.489C>T (p.Ser163=)
|
rs1240175750
|
0.00001
|
NM_001376.5(DYNC1H1):c.4902T>C (p.Asp1634=)
|
rs370806297
|
0.00001
|
NM_001376.5(DYNC1H1):c.4911G>A (p.Leu1637=)
|
rs181705516
|
0.00001
|
NM_001376.5(DYNC1H1):c.4920C>A (p.Ile1640=)
|
rs2141288473
|
0.00001
|
NM_001376.5(DYNC1H1):c.4942G>A (p.Ala1648Thr)
|
rs772223606
|
0.00001
|
NM_001376.5(DYNC1H1):c.4944T>C (p.Ala1648=)
|
rs1475038980
|
0.00001
|
NM_001376.5(DYNC1H1):c.4959C>T (p.His1653=)
|
rs773425996
|
0.00001
|
NM_001376.5(DYNC1H1):c.4986G>A (p.Ser1662=)
|
rs113210905
|
0.00001
|
NM_001376.5(DYNC1H1):c.5009A>G (p.Asn1670Ser)
|
rs758191823
|
0.00001
|
NM_001376.5(DYNC1H1):c.5049+14C>T
|
rs757092133
|
0.00001
|
NM_001376.5(DYNC1H1):c.5049+7T>C
|
rs374768466
|
0.00001
|
NM_001376.5(DYNC1H1):c.5050-12T>C
|
rs1377523924
|
0.00001
|
NM_001376.5(DYNC1H1):c.5074A>G (p.Ile1692Val)
|
rs775895683
|
0.00001
|
NM_001376.5(DYNC1H1):c.5110T>C (p.Leu1704=)
|
rs762507155
|
0.00001
|
NM_001376.5(DYNC1H1):c.5118A>G (p.Glu1706=)
|
rs1567007961
|
0.00001
|
NM_001376.5(DYNC1H1):c.5136C>T (p.Thr1712=)
|
rs1460196440
|
0.00001
|
NM_001376.5(DYNC1H1):c.5146C>T (p.Leu1716=)
|
rs1595611257
|
0.00001
|
NM_001376.5(DYNC1H1):c.5160T>C (p.Ser1720=)
|
rs767199732
|
0.00001
|
NM_001376.5(DYNC1H1):c.518+9T>A
|
rs755282350
|
0.00001
|
NM_001376.5(DYNC1H1):c.519-14A>G
|
rs775118340
|
0.00001
|
NM_001376.5(DYNC1H1):c.5238+11G>A
|
rs1367310042
|
0.00001
|
NM_001376.5(DYNC1H1):c.5238+6C>G
|
rs781277552
|
0.00001
|
NM_001376.5(DYNC1H1):c.5238+7T>C
|
rs746205822
|
0.00001
|
NM_001376.5(DYNC1H1):c.5241C>T (p.Ala1747=)
|
rs2048181042
|
0.00001
|
NM_001376.5(DYNC1H1):c.5250G>A (p.Val1750=)
|
rs756473839
|
0.00001
|
NM_001376.5(DYNC1H1):c.5283C>T (p.Asn1761=)
|
rs1057523440
|
0.00001
|
NM_001376.5(DYNC1H1):c.5285T>C (p.Val1762Ala)
|
rs749796285
|
0.00001
|
NM_001376.5(DYNC1H1):c.5316T>C (p.Gly1772=)
|
rs761933814
|
0.00001
|
NM_001376.5(DYNC1H1):c.5325C>T (p.Ala1775=)
|
rs767537085
|
0.00001
|
NM_001376.5(DYNC1H1):c.5337C>T (p.His1779=)
|
rs1158994673
|
0.00001
|
NM_001376.5(DYNC1H1):c.5367C>T (p.Leu1789=)
|
rs757894227
|
0.00001
|
NM_001376.5(DYNC1H1):c.5422C>A (p.Leu1808Ile)
|
rs879253937
|
0.00001
|
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=)
|
rs770425304
|
0.00001
|
NM_001376.5(DYNC1H1):c.5427A>G (p.Glu1809=)
|
rs2048183675
|
0.00001
|
NM_001376.5(DYNC1H1):c.5433+11C>T
|
rs1452350939
|
0.00001
|
NM_001376.5(DYNC1H1):c.5434-8T>C
|
rs750995703
|
0.00001
|
NM_001376.5(DYNC1H1):c.546T>G (p.Val182=)
|
rs762857766
|
0.00001
|
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=)
|
rs769577090
|
0.00001
|
NM_001376.5(DYNC1H1):c.5489T>C (p.Ile1830Thr)
|
rs529978859
|
0.00001
|
NM_001376.5(DYNC1H1):c.5495A>G (p.Asn1832Ser)
|
rs1446476604
|
0.00001
|
NM_001376.5(DYNC1H1):c.5496C>T (p.Asn1832=)
|
rs774374501
|
0.00001
|
NM_001376.5(DYNC1H1):c.5497G>A (p.Ala1833Thr)
|
rs150846332
|
0.00001
|
NM_001376.5(DYNC1H1):c.5535C>T (p.Tyr1845=)
|
rs375310234
|
0.00001
|
NM_001376.5(DYNC1H1):c.5559G>A (p.Val1853=)
|
rs1399921525
|
0.00001
|
NM_001376.5(DYNC1H1):c.5578C>A (p.Gln1860Lys)
|
rs893299206
|
0.00001
|
NM_001376.5(DYNC1H1):c.5604T>C (p.Tyr1868=)
|
rs1383861038
|
0.00001
|
NM_001376.5(DYNC1H1):c.5616C>T (p.Tyr1872=)
|
rs2048193275
|
0.00001
|
NM_001376.5(DYNC1H1):c.561A>G (p.Ala187=)
|
rs774395446
|
0.00001
|
NM_001376.5(DYNC1H1):c.5646C>T (p.Thr1882=)
|
rs756726694
|
0.00001
|
NM_001376.5(DYNC1H1):c.5685C>G (p.Ala1895=)
|
rs1475165809
|
0.00001
|
NM_001376.5(DYNC1H1):c.5694C>T (p.Ala1898=)
|
rs1219103213
|
0.00001
|
NM_001376.5(DYNC1H1):c.5700G>T (p.Leu1900=)
|
rs552313071
|
0.00001
|
NM_001376.5(DYNC1H1):c.579C>T (p.Leu193=)
|
rs1184080545
|
0.00001
|
NM_001376.5(DYNC1H1):c.5811T>C (p.Asp1937=)
|
rs1258960197
|
0.00001
|
NM_001376.5(DYNC1H1):c.5817+7C>T
|
rs775542098
|
0.00001
|
NM_001376.5(DYNC1H1):c.5818-7T>C
|
rs768853025
|
0.00001
|
NM_001376.5(DYNC1H1):c.5818-9C>T
|
rs1366670786
|
0.00001
|
NM_001376.5(DYNC1H1):c.5907G>A (p.Ser1969=)
|
rs758999145
|
0.00001
|
NM_001376.5(DYNC1H1):c.5948G>A (p.Arg1983His)
|
rs200934709
|
0.00001
|
NM_001376.5(DYNC1H1):c.5963C>T (p.Pro1988Leu)
|
rs1399670309
|
0.00001
|
NM_001376.5(DYNC1H1):c.5977+12C>T
|
rs967068629
|
0.00001
|
NM_001376.5(DYNC1H1):c.5978-16A>G
|
rs761539999
|
0.00001
|
NM_001376.5(DYNC1H1):c.5987C>G (p.Pro1996Arg)
|
rs752903521
|
0.00001
|
NM_001376.5(DYNC1H1):c.6066C>T (p.Tyr2022=)
|
rs769412278
|
0.00001
|
NM_001376.5(DYNC1H1):c.6126C>G (p.Thr2042=)
|
rs773901374
|
0.00001
|
NM_001376.5(DYNC1H1):c.6135C>T (p.Asp2045=)
|
rs2048239893
|
0.00001
|
NM_001376.5(DYNC1H1):c.6157A>T (p.Met2053Leu)
|
rs1395925460
|
0.00001
|
NM_001376.5(DYNC1H1):c.6168A>T (p.Ser2056=)
|
rs1367937657
|
0.00001
|
NM_001376.5(DYNC1H1):c.6210C>T (p.Val2070=)
|
rs898083162
|
0.00001
|
NM_001376.5(DYNC1H1):c.6231T>C (p.Asp2077=)
|
rs528826538
|
0.00001
|
NM_001376.5(DYNC1H1):c.6255T>C (p.His2085=)
|
rs1206941922
|
0.00001
|
NM_001376.5(DYNC1H1):c.6264C>T (p.Phe2088=)
|
rs778348555
|
0.00001
|
NM_001376.5(DYNC1H1):c.6306T>C (p.Asn2102=)
|
rs2048244190
|
0.00001
|
NM_001376.5(DYNC1H1):c.633A>G (p.Pro211=)
|
rs1479689081
|
0.00001
|
NM_001376.5(DYNC1H1):c.6399A>G (p.Glu2133=)
|
rs769782375
|
0.00001
|
NM_001376.5(DYNC1H1):c.6406-14C>T
|
rs1444620278
|
0.00001
|
NM_001376.5(DYNC1H1):c.6406-15G>A
|
rs1212125947
|
0.00001
|
NM_001376.5(DYNC1H1):c.6420C>T (p.Ser2140=)
|
rs759977828
|
0.00001
|
NM_001376.5(DYNC1H1):c.6447G>C (p.Leu2149=)
|
rs757840879
|
0.00001
|
NM_001376.5(DYNC1H1):c.6485C>T (p.Ser2162Leu)
|
rs751081074
|
0.00001
|
NM_001376.5(DYNC1H1):c.6504C>T (p.Val2168=)
|
rs1309844207
|
0.00001
|
NM_001376.5(DYNC1H1):c.6506A>C (p.Gln2169Pro)
|
rs780851039
|
0.00001
|
NM_001376.5(DYNC1H1):c.6539A>C (p.Glu2180Ala)
|
rs377618857
|
0.00001
|
NM_001376.5(DYNC1H1):c.6585T>C (p.Asp2195=)
|
rs773371238
|
0.00001
|
NM_001376.5(DYNC1H1):c.6597T>C (p.Val2199=)
|
rs1305195955
|
0.00001
|
NM_001376.5(DYNC1H1):c.6604A>G (p.Met2202Val)
|
rs771240057
|
0.00001
|
NM_001376.5(DYNC1H1):c.6618+16T>A
|
rs1393406334
|
0.00001
|
NM_001376.5(DYNC1H1):c.6618+19C>T
|
rs1227128191
|
0.00001
|
NM_001376.5(DYNC1H1):c.6618+9G>C
|
rs759798222
|
0.00001
|
NM_001376.5(DYNC1H1):c.667C>T (p.Arg223Cys)
|
rs757819428
|
0.00001
|
NM_001376.5(DYNC1H1):c.6687G>C (p.Gly2229=)
|
rs553054991
|
0.00001
|
NM_001376.5(DYNC1H1):c.66G>C (p.Gln22His)
|
rs1377924324
|
0.00001
|
NM_001376.5(DYNC1H1):c.6857+8T>G
|
rs774831565
|
0.00001
|
NM_001376.5(DYNC1H1):c.6864C>T (p.Ile2288=)
|
rs780288243
|
0.00001
|
NM_001376.5(DYNC1H1):c.6867C>T (p.Asp2289=)
|
rs749577064
|
0.00001
|
NM_001376.5(DYNC1H1):c.6879C>T (p.Gly2293=)
|
rs748519888
|
0.00001
|
NM_001376.5(DYNC1H1):c.6882G>A (p.Glu2294=)
|
rs772596156
|
0.00001
|
NM_001376.5(DYNC1H1):c.6885G>T (p.Leu2295=)
|
rs773619052
|
0.00001
|
NM_001376.5(DYNC1H1):c.6903C>T (p.Ile2301=)
|
rs770388642
|
0.00001
|
NM_001376.5(DYNC1H1):c.6936T>A (p.Val2312=)
|
rs1292765767
|
0.00001
|
NM_001376.5(DYNC1H1):c.6986A>G (p.Asn2329Ser)
|
rs142335110
|
0.00001
|
NM_001376.5(DYNC1H1):c.7008A>G (p.Pro2336=)
|
rs766423624
|
0.00001
|
NM_001376.5(DYNC1H1):c.7014+15G>C
|
rs778312298
|
0.00001
|
NM_001376.5(DYNC1H1):c.7015-14T>C
|
rs753878203
|
0.00001
|
NM_001376.5(DYNC1H1):c.7044G>A (p.Leu2348=)
|
rs764246991
|
0.00001
|
NM_001376.5(DYNC1H1):c.7050C>T (p.Tyr2350=)
|
rs752958394
|
0.00001
|
NM_001376.5(DYNC1H1):c.7062C>T (p.Ala2354=)
|
rs1364430434
|
0.00001
|
NM_001376.5(DYNC1H1):c.7113C>T (p.Thr2371=)
|
rs745348478
|
0.00001
|
NM_001376.5(DYNC1H1):c.7144C>T (p.Leu2382=)
|
rs1408282695
|
0.00001
|
NM_001376.5(DYNC1H1):c.7148G>A (p.Arg2383His)
|
rs1028991666
|
0.00001
|
NM_001376.5(DYNC1H1):c.714C>T (p.Asp238=)
|
rs748927251
|
0.00001
|
NM_001376.5(DYNC1H1):c.7161G>A (p.Leu2387=)
|
rs2048306603
|
0.00001
|
NM_001376.5(DYNC1H1):c.7188G>A (p.Arg2396=)
|
rs199686352
|
0.00001
|
NM_001376.5(DYNC1H1):c.7190G>A (p.Arg2397Gln)
|
rs751820545
|
0.00001
|
NM_001376.5(DYNC1H1):c.7224C>T (p.Ala2408=)
|
rs587780330
|
0.00001
|
NM_001376.5(DYNC1H1):c.7283C>T (p.Thr2428Met)
|
rs774418749
|
0.00001
|
NM_001376.5(DYNC1H1):c.7297G>A (p.Val2433Ile)
|
rs1011204533
|
0.00001
|
NM_001376.5(DYNC1H1):c.7351C>T (p.Arg2451Cys)
|
rs1415287907
|
0.00001
|
NM_001376.5(DYNC1H1):c.7371G>A (p.Ser2457=)
|
rs186858721
|
0.00001
|
NM_001376.5(DYNC1H1):c.7377C>T (p.Phe2459=)
|
rs1430680686
|
0.00001
|
NM_001376.5(DYNC1H1):c.7401C>T (p.Arg2467=)
|
rs769628822
|
0.00001
|
NM_001376.5(DYNC1H1):c.7403A>T (p.Asn2468Ile)
|
rs797045532
|
0.00001
|
NM_001376.5(DYNC1H1):c.7420G>A (p.Ala2474Thr)
|
rs766837403
|
0.00001
|
NM_001376.5(DYNC1H1):c.7441A>G (p.Met2481Val)
|
rs763703432
|
0.00001
|
NM_001376.5(DYNC1H1):c.7448T>C (p.Ile2483Thr)
|
rs570035312
|
0.00001
|
NM_001376.5(DYNC1H1):c.7467C>T (p.Tyr2489=)
|
rs772321409
|
0.00001
|
NM_001376.5(DYNC1H1):c.7473+12T>G
|
rs541142017
|
0.00001
|
NM_001376.5(DYNC1H1):c.7473+9G>A
|
rs1209412220
|
0.00001
|
NM_001376.5(DYNC1H1):c.7476A>G (p.Arg2492=)
|
rs1050550035
|
0.00001
|
NM_001376.5(DYNC1H1):c.7479T>C (p.Tyr2493=)
|
rs770555386
|
0.00001
|
NM_001376.5(DYNC1H1):c.7539G>C (p.Glu2513Asp)
|
rs376901405
|
0.00001
|
NM_001376.5(DYNC1H1):c.7570G>A (p.Val2524Met)
|
rs147836678
|
0.00001
|
NM_001376.5(DYNC1H1):c.7586C>T (p.Ala2529Val)
|
rs746209887
|
0.00001
|
NM_001376.5(DYNC1H1):c.7615-14A>G
|
rs1358888197
|
0.00001
|
NM_001376.5(DYNC1H1):c.7615-9C>T
|
rs371138028
|
0.00001
|
NM_001376.5(DYNC1H1):c.7659T>C (p.Pro2553=)
|
rs760346217
|
0.00001
|
NM_001376.5(DYNC1H1):c.7677G>A (p.Thr2559=)
|
rs1407351808
|
0.00001
|
NM_001376.5(DYNC1H1):c.7701C>T (p.Val2567=)
|
rs759429795
|
0.00001
|
NM_001376.5(DYNC1H1):c.7702G>A (p.Val2568Ile)
|
rs765245789
|
0.00001
|
NM_001376.5(DYNC1H1):c.7704C>T (p.Val2568=)
|
rs1490150218
|
0.00001
|
NM_001376.5(DYNC1H1):c.7713G>A (p.Thr2571=)
|
rs767434648
|
0.00001
|
NM_001376.5(DYNC1H1):c.7719C>T (p.Asp2573=)
|
rs1390975626
|
0.00001
|
NM_001376.5(DYNC1H1):c.7728C>T (p.Arg2576=)
|
rs958589871
|
0.00001
|
NM_001376.5(DYNC1H1):c.7731C>T (p.His2577=)
|
rs530179263
|
0.00001
|
NM_001376.5(DYNC1H1):c.7737C>T (p.Ala2579=)
|
rs140096332
|
0.00001
|
NM_001376.5(DYNC1H1):c.775-14T>C
|
rs1219013973
|
0.00001
|
NM_001376.5(DYNC1H1):c.775-16T>C
|
rs375164712
|
0.00001
|
NM_001376.5(DYNC1H1):c.775-19T>C
|
rs896795652
|
0.00001
|
NM_001376.5(DYNC1H1):c.7767G>A (p.Lys2589=)
|
rs2048330221
|
0.00001
|
NM_001376.5(DYNC1H1):c.7794G>A (p.Gly2598=)
|
rs770661847
|
0.00001
|
NM_001376.5(DYNC1H1):c.7848+8G>A
|
rs1344384229
|
0.00001
|
NM_001376.5(DYNC1H1):c.7849-13C>T
|
rs1268765070
|
0.00001
|
NM_001376.5(DYNC1H1):c.7849-15G>A
|
rs779090427
|
0.00001
|
NM_001376.5(DYNC1H1):c.7917C>T (p.Cys2639=)
|
rs778369655
|
0.00001
|
NM_001376.5(DYNC1H1):c.7935T>C (p.Pro2645=)
|
rs1027317809
|
0.00001
|
NM_001376.5(DYNC1H1):c.7941G>T (p.Gly2647=)
|
rs780976138
|
0.00001
|
NM_001376.5(DYNC1H1):c.7942G>A (p.Val2648Met)
|
rs1288886820
|
0.00001
|
NM_001376.5(DYNC1H1):c.7986C>T (p.Phe2662=)
|
rs768455078
|
0.00001
|
NM_001376.5(DYNC1H1):c.7998C>T (p.Ile2666=)
|
rs1470317795
|
0.00001
|
NM_001376.5(DYNC1H1):c.8025G>A (p.Gly2675=)
|
rs1221039571
|
0.00001
|
NM_001376.5(DYNC1H1):c.8028C>G (p.Thr2676=)
|
rs1351714097
|
0.00001
|
NM_001376.5(DYNC1H1):c.8055+7T>G
|
rs2048334232
|
0.00001
|
NM_001376.5(DYNC1H1):c.8055+9C>G
|
rs753929462
|
0.00001
|
NM_001376.5(DYNC1H1):c.8070A>G (p.Gly2690=)
|
rs749004964
|
0.00001
|
NM_001376.5(DYNC1H1):c.8148A>G (p.Thr2716=)
|
rs763226110
|
0.00001
|
NM_001376.5(DYNC1H1):c.8178-19C>T
|
rs755564157
|
0.00001
|
NM_001376.5(DYNC1H1):c.8190C>T (p.His2730=)
|
rs747028073
|
0.00001
|
NM_001376.5(DYNC1H1):c.819G>A (p.Gln273=)
|
rs772012633
|
0.00001
|
NM_001376.5(DYNC1H1):c.8244C>T (p.Tyr2748=)
|
rs766829421
|
0.00001
|
NM_001376.5(DYNC1H1):c.8259C>T (p.Arg2753=)
|
rs752418713
|
0.00001
|
NM_001376.5(DYNC1H1):c.825T>C (p.Ile275=)
|
rs773159389
|
0.00001
|
NM_001376.5(DYNC1H1):c.8262C>T (p.Ala2754=)
|
rs758178917
|
0.00001
|
NM_001376.5(DYNC1H1):c.8275A>G (p.Ile2759Val)
|
rs1131691452
|
0.00001
|
NM_001376.5(DYNC1H1):c.8284C>T (p.Leu2762=)
|
rs751339671
|
0.00001
|
NM_001376.5(DYNC1H1):c.8288G>A (p.Arg2763Gln)
|
rs757167931
|
0.00001
|
NM_001376.5(DYNC1H1):c.8289G>A (p.Arg2763=)
|
rs2048351261
|
0.00001
|
NM_001376.5(DYNC1H1):c.8307C>T (p.Leu2769=)
|
rs1256192772
|
0.00001
|
NM_001376.5(DYNC1H1):c.8325G>A (p.Glu2775=)
|
rs779265112
|
0.00001
|
NM_001376.5(DYNC1H1):c.8326T>A (p.Phe2776Ile)
|
rs748320904
|
0.00001
|
NM_001376.5(DYNC1H1):c.8344-4A>G
|
rs200913985
|
0.00001
|
NM_001376.5(DYNC1H1):c.8367A>G (p.Gln2789=)
|
rs1386906135
|
0.00001
|
NM_001376.5(DYNC1H1):c.837A>G (p.Leu279=)
|
rs769853678
|
0.00001
|
NM_001376.5(DYNC1H1):c.8416A>G (p.Ile2806Val)
|
rs777184216
|
0.00001
|
NM_001376.5(DYNC1H1):c.8424A>G (p.Glu2808=)
|
rs1312462200
|
0.00001
|
NM_001376.5(DYNC1H1):c.8507+13G>A
|
rs766442338
|
0.00001
|
NM_001376.5(DYNC1H1):c.8507+19C>A
|
rs752801900
|
0.00001
|
NM_001376.5(DYNC1H1):c.8508-10C>T
|
rs2503789393
|
0.00001
|
NM_001376.5(DYNC1H1):c.8508-18A>G
|
rs767229783
|
0.00001
|
NM_001376.5(DYNC1H1):c.8508-20A>T
|
rs1364758830
|
0.00001
|
NM_001376.5(DYNC1H1):c.8511C>T (p.Leu2837=)
|
rs137911066
|
0.00001
|
NM_001376.5(DYNC1H1):c.8529G>A (p.Arg2843=)
|
rs764023995
|
0.00001
|
NM_001376.5(DYNC1H1):c.852G>A (p.Ala284=)
|
rs199534174
|
0.00001
|
NM_001376.5(DYNC1H1):c.8547C>T (p.Asn2849=)
|
rs149526821
|
0.00001
|
NM_001376.5(DYNC1H1):c.8555C>T (p.Thr2852Met)
|
rs575806819
|
0.00001
|
NM_001376.5(DYNC1H1):c.8583C>T (p.Ile2861=)
|
rs747715540
|
0.00001
|
NM_001376.5(DYNC1H1):c.85G>A (p.Val29Met)
|
rs1352508759
|
0.00001
|
NM_001376.5(DYNC1H1):c.8616G>A (p.Leu2872=)
|
rs535192875
|
0.00001
|
NM_001376.5(DYNC1H1):c.8631G>A (p.Leu2877=)
|
rs1169712846
|
0.00001
|
NM_001376.5(DYNC1H1):c.8637+11C>T
|
rs367952855
|
0.00001
|
NM_001376.5(DYNC1H1):c.8638-17_8638-16insC
|
rs764810529
|
0.00001
|
NM_001376.5(DYNC1H1):c.8638-9T>C
|
rs1468196966
|
0.00001
|
NM_001376.5(DYNC1H1):c.8658A>G (p.Gln2886=)
|
rs766611207
|
0.00001
|
NM_001376.5(DYNC1H1):c.8667A>G (p.Leu2889=)
|
rs754129758
|
0.00001
|
NM_001376.5(DYNC1H1):c.8712A>G (p.Glu2904=)
|
rs141827899
|
0.00001
|
NM_001376.5(DYNC1H1):c.8733G>A (p.Leu2911=)
|
rs1327964569
|
0.00001
|
NM_001376.5(DYNC1H1):c.8742A>G (p.Glu2914=)
|
rs1205354688
|
0.00001
|
NM_001376.5(DYNC1H1):c.8754C>T (p.His2918=)
|
rs758989267
|
0.00001
|
NM_001376.5(DYNC1H1):c.8760G>A (p.Leu2920=)
|
rs1369710180
|
0.00001
|
NM_001376.5(DYNC1H1):c.8772-20del
|
rs1315440536
|
0.00001
|
NM_001376.5(DYNC1H1):c.8772-7G>A
|
rs758936427
|
0.00001
|
NM_001376.5(DYNC1H1):c.8832T>C (p.Thr2944=)
|
rs2503803451
|
0.00001
|
NM_001376.5(DYNC1H1):c.8850C>T (p.Val2950=)
|
rs745463328
|
0.00001
|
NM_001376.5(DYNC1H1):c.8862C>T (p.Asn2954=)
|
rs755723273
|
0.00001
|
NM_001376.5(DYNC1H1):c.8886+12C>T
|
rs779856253
|
0.00001
|
NM_001376.5(DYNC1H1):c.8889C>G (p.Val2963=)
|
rs997524685
|
0.00001
|
NM_001376.5(DYNC1H1):c.8930G>A (p.Arg2977Gln)
|
rs779621100
|
0.00001
|
NM_001376.5(DYNC1H1):c.8934A>G (p.Thr2978=)
|
rs1192641956
|
0.00001
|
NM_001376.5(DYNC1H1):c.9030C>T (p.Thr3010=)
|
rs750413212
|
0.00001
|
NM_001376.5(DYNC1H1):c.9048+14G>A
|
rs200027905
|
0.00001
|
NM_001376.5(DYNC1H1):c.9048+19G>A
|
rs2048464169
|
0.00001
|
NM_001376.5(DYNC1H1):c.9049-16C>T
|
rs926494354
|
0.00001
|
NM_001376.5(DYNC1H1):c.9049-18C>T
|
rs2048464798
|
0.00001
|
NM_001376.5(DYNC1H1):c.9054T>C (p.Pro3018=)
|
rs746598763
|
0.00001
|
NM_001376.5(DYNC1H1):c.9108G>A (p.Gly3036=)
|
rs1555410937
|
0.00001
|
NM_001376.5(DYNC1H1):c.9165T>C (p.Thr3055=)
|
rs1156471496
|
0.00001
|
NM_001376.5(DYNC1H1):c.9192C>T (p.Val3064=)
|
rs1434845724
|
0.00001
|
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=)
|
rs201817995
|
0.00001
|
NM_001376.5(DYNC1H1):c.9219G>A (p.Glu3073=)
|
rs2048466890
|
0.00001
|
NM_001376.5(DYNC1H1):c.9249A>G (p.Pro3083=)
|
rs1555410963
|
0.00001
|
NM_001376.5(DYNC1H1):c.9297C>T (p.Thr3099=)
|
rs2048469194
|
0.00001
|
NM_001376.5(DYNC1H1):c.92A>G (p.Gln31Arg)
|
rs1043956265
|
0.00001
|
NM_001376.5(DYNC1H1):c.9390T>C (p.Tyr3130=)
|
rs1232985980
|
0.00001
|
NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys)
|
rs1049866462
|
0.00001
|
NM_001376.5(DYNC1H1):c.9459T>G (p.Thr3153=)
|
rs1282667993
|
0.00001
|
NM_001376.5(DYNC1H1):c.9468+18A>C
|
rs1394173255
|
0.00001
|
NM_001376.5(DYNC1H1):c.9468+20C>G
|
rs760693848
|
0.00001
|
NM_001376.5(DYNC1H1):c.9469-12A>G
|
rs1210038793
|
0.00001
|
NM_001376.5(DYNC1H1):c.9479G>A (p.Arg3160Gln)
|
rs777423061
|
0.00001
|
NM_001376.5(DYNC1H1):c.9498C>T (p.Gly3166=)
|
rs1434226100
|
0.00001
|
NM_001376.5(DYNC1H1):c.9504G>A (p.Thr3168=)
|
rs751842248
|
0.00001
|
NM_001376.5(DYNC1H1):c.9543T>C (p.Asn3181=)
|
rs781492218
|
0.00001
|
NM_001376.5(DYNC1H1):c.9603G>A (p.Leu3201=)
|
rs140436909
|
0.00001
|
NM_001376.5(DYNC1H1):c.9612G>A (p.Gly3204=)
|
rs1438249246
|
0.00001
|
NM_001376.5(DYNC1H1):c.962-4A>G
|
rs1160682080
|
0.00001
|
NM_001376.5(DYNC1H1):c.9639C>T (p.Asp3213=)
|
rs2048488691
|
0.00001
|
NM_001376.5(DYNC1H1):c.9642+17A>C
|
rs770750441
|
0.00001
|
NM_001376.5(DYNC1H1):c.9654G>A (p.Leu3218=)
|
rs1595624407
|
0.00001
|
NM_001376.5(DYNC1H1):c.9759G>A (p.Lys3253=)
|
rs889733179
|
0.00001
|
NM_001376.5(DYNC1H1):c.9790C>T (p.Leu3264=)
|
rs373682811
|
0.00001
|
NM_001376.5(DYNC1H1):c.9801G>A (p.Gln3267=)
|
rs1157990881
|
0.00001
|
NM_001376.5(DYNC1H1):c.9864C>T (p.Ala3288=)
|
rs200512100
|
0.00001
|
NM_001376.5(DYNC1H1):c.9879G>A (p.Gln3293=)
|
rs184853838
|
0.00001
|
NM_001376.5(DYNC1H1):c.9897C>T (p.Ile3299=)
|
rs778765369
|
0.00001
|
NM_001376.5(DYNC1H1):c.9936C>T (p.Asn3312=)
|
rs1258233095
|
0.00001
|
NM_001376.5(DYNC1H1):c.9944C>G (p.Ala3315Gly)
|
rs770981625
|
0.00001
|
NM_001376.5(DYNC1H1):c.9960G>A (p.Ala3320=)
|
rs746026558
|
0.00001
|
NM_001376.5(DYNC1H1):c.9975C>T (p.Cys3325=)
|
rs1274600876
|
0.00001
|
NM_001540.5(HSPB1):c.117G>A (p.Pro39=)
|
rs752555764
|
0.00001
|
NM_001540.5(HSPB1):c.123G>A (p.Glu41=)
|
rs11547167
|
0.00001
|
NM_001540.5(HSPB1):c.177C>T (p.Pro59=)
|
rs996702771
|
0.00001
|
NM_001540.5(HSPB1):c.180C>T (p.Pro60=)
|
rs774535175
|
0.00001
|
NM_001540.5(HSPB1):c.189C>T (p.Ile63=)
|
rs1167322258
|
0.00001
|
NM_001540.5(HSPB1):c.198C>T (p.Pro66=)
|
rs763909905
|
0.00001
|
NM_001540.5(HSPB1):c.21C>T (p.Pro7=)
|
rs759998200
|
0.00001
|
NM_001540.5(HSPB1):c.294C>T (p.Ser98=)
|
rs1294648668
|
0.00001
|
NM_001540.5(HSPB1):c.33G>C (p.Leu11=)
|
rs199712600
|
0.00001
|
NM_001540.5(HSPB1):c.365-4A>G
|
rs373485993
|
0.00001
|
NM_001540.5(HSPB1):c.469C>T (p.Leu157=)
|
rs759976500
|
0.00001
|
NM_001540.5(HSPB1):c.504C>T (p.Pro168=)
|
rs866382696
|
0.00001
|
NM_001540.5(HSPB1):c.552C>T (p.Thr184=)
|
rs1464655270
|
0.00001
|
NM_001540.5(HSPB1):c.609C>T (p.Ala203=)
|
rs199607823
|
0.00001
|
NM_001540.5(HSPB1):c.75T>C (p.His25=)
|
rs374172570
|
0.00001
|
NM_001540.5(HSPB1):c.84C>T (p.Leu28=)
|
rs778672047
|
0.00001
|
NM_001605.3(AARS1):c.1001A>T (p.Tyr334Phe)
|
rs527414180
|
0.00001
|
NM_001605.3(AARS1):c.1002C>T (p.Tyr334=)
|
rs753317193
|
0.00001
|
NM_001605.3(AARS1):c.1008T>C (p.His336=)
|
rs1374423400
|
0.00001
|
NM_001605.3(AARS1):c.1035C>T (p.Phe345=)
|
rs1960314990
|
0.00001
|
NM_001605.3(AARS1):c.1059C>T (p.Val353=)
|
rs1054385792
|
0.00001
|
NM_001605.3(AARS1):c.1072-15C>A
|
rs201884424
|
0.00001
|
NM_001605.3(AARS1):c.1072-16G>A
|
rs1323685357
|
0.00001
|
NM_001605.3(AARS1):c.1192C>G (p.Gln398Glu)
|
rs370982654
|
0.00001
|
NM_001605.3(AARS1):c.1222+18C>T
|
rs1960293608
|
0.00001
|
NM_001605.3(AARS1):c.1230T>C (p.Thr410=)
|
rs748544878
|
0.00001
|
NM_001605.3(AARS1):c.1233T>C (p.Ala411=)
|
rs2507009709
|
0.00001
|
NM_001605.3(AARS1):c.126C>G (p.Ala42=)
|
rs1218815290
|
0.00001
|
NM_001605.3(AARS1):c.1284T>A (p.Ile428=)
|
rs1210163050
|
0.00001
|
NM_001605.3(AARS1):c.1302G>A (p.Leu434=)
|
rs752566988
|
0.00001
|
NM_001605.3(AARS1):c.1305G>T (p.Val435=)
|
rs1960242905
|
0.00001
|
NM_001605.3(AARS1):c.1306G>A (p.Val436Ile)
|
rs561137479
|
0.00001
|
NM_001605.3(AARS1):c.1347+10T>C
|
rs1424574012
|
0.00001
|
NM_001605.3(AARS1):c.1348-10T>C
|
rs760431632
|
0.00001
|
NM_001605.3(AARS1):c.1348-17G>A
|
rs1400655859
|
0.00001
|
NM_001605.3(AARS1):c.1348-20C>T
|
rs371734869
|
0.00001
|
NM_001605.3(AARS1):c.1348-9T>C
|
rs201538906
|
0.00001
|
NM_001605.3(AARS1):c.1398C>T (p.Asp466=)
|
rs770132954
|
0.00001
|
NM_001605.3(AARS1):c.1437G>A (p.Glu479=)
|
rs751074806
|
0.00001
|
NM_001605.3(AARS1):c.145-4T>G
|
rs771322532
|
0.00001
|
NM_001605.3(AARS1):c.1493-10C>T
|
rs529835734
|
0.00001
|
NM_001605.3(AARS1):c.1494A>G (p.Val498=)
|
rs535856901
|
0.00001
|
NM_001605.3(AARS1):c.1533G>A (p.Arg511=)
|
rs375230340
|
0.00001
|
NM_001605.3(AARS1):c.1536G>A (p.Glu512=)
|
rs774309980
|
0.00001
|
NM_001605.3(AARS1):c.1554G>A (p.Glu518=)
|
rs746835558
|
0.00001
|
NM_001605.3(AARS1):c.156T>C (p.Ile52=)
|
rs1363267656
|
0.00001
|
NM_001605.3(AARS1):c.1578A>G (p.Gly526=)
|
rs376138540
|
0.00001
|
NM_001605.3(AARS1):c.1602C>T (p.Phe534=)
|
rs1960154377
|
0.00001
|
NM_001605.3(AARS1):c.1647G>A (p.Val549=)
|
rs905326575
|
0.00001
|
NM_001605.3(AARS1):c.1650G>A (p.Lys550=)
|
rs770856423
|
0.00001
|
NM_001605.3(AARS1):c.1672-10C>T
|
rs1245852151
|
0.00001
|
NM_001605.3(AARS1):c.1672-5C>T
|
rs371238822
|
0.00001
|
NM_001605.3(AARS1):c.1672-7C>G
|
rs1294076779
|
0.00001
|
NM_001605.3(AARS1):c.1719G>A (p.Val573=)
|
rs201582606
|
0.00001
|
NM_001605.3(AARS1):c.1722A>G (p.Leu574=)
|
rs140678149
|
0.00001
|
NM_001605.3(AARS1):c.1728T>C (p.Ile576=)
|
rs1223393949
|
0.00001
|
NM_001605.3(AARS1):c.177A>G (p.Pro59=)
|
rs758674184
|
0.00001
|
NM_001605.3(AARS1):c.1785+16G>C
|
rs375451856
|
0.00001
|
NM_001605.3(AARS1):c.1842C>T (p.Ala614=)
|
rs1057521642
|
0.00001
|
NM_001605.3(AARS1):c.1881A>G (p.Ser627=)
|
rs1486965038
|
0.00001
|
NM_001605.3(AARS1):c.1882T>C (p.Leu628=)
|
rs200896501
|
0.00001
|
NM_001605.3(AARS1):c.1962G>A (p.Glu654=)
|
rs1291557995
|
0.00001
|
NM_001605.3(AARS1):c.1965T>C (p.Ile655=)
|
rs779013701
|
0.00001
|
NM_001605.3(AARS1):c.1992+11C>T
|
rs756739953
|
0.00001
|
NM_001605.3(AARS1):c.1992+14C>T
|
rs945873486
|
0.00001
|
NM_001605.3(AARS1):c.1992+7T>C
|
rs767054861
|
0.00001
|
NM_001605.3(AARS1):c.1993-16C>G
|
rs1470035730
|
0.00001
|
NM_001605.3(AARS1):c.1993-9G>C
|
rs1410746723
|
0.00001
|
NM_001605.3(AARS1):c.1995C>T (p.Ala665=)
|
rs754212203
|
0.00001
|
NM_001605.3(AARS1):c.2010T>C (p.Asp670=)
|
rs149777415
|
0.00001
|
NM_001605.3(AARS1):c.2017C>T (p.Leu673=)
|
rs762839576
|
0.00001
|
NM_001605.3(AARS1):c.2019G>C (p.Leu673=)
|
rs775476419
|
0.00001
|
NM_001605.3(AARS1):c.2034C>T (p.Ala678=)
|
rs2506996354
|
0.00001
|
NM_001605.3(AARS1):c.2046A>G (p.Leu682=)
|
rs757898507
|
0.00001
|
NM_001605.3(AARS1):c.2070T>C (p.Tyr690=)
|
rs754266971
|
0.00001
|
NM_001605.3(AARS1):c.2079T>C (p.Pro693=)
|
rs766834986
|
0.00001
|
NM_001605.3(AARS1):c.2103C>T (p.Val701=)
|
rs1476539357
|
0.00001
|
NM_001605.3(AARS1):c.2109G>C (p.Val703=)
|
rs777499923
|
0.00001
|
NM_001605.3(AARS1):c.2112C>T (p.Ser704=)
|
rs936240936
|
0.00001
|
NM_001605.3(AARS1):c.2119C>T (p.Leu707=)
|
rs1597435214
|
0.00001
|
NM_001605.3(AARS1):c.2130C>T (p.Pro710=)
|
rs780604407
|
0.00001
|
NM_001605.3(AARS1):c.2154T>G (p.Thr718=)
|
rs1410315443
|
0.00001
|
NM_001605.3(AARS1):c.2177+20A>G
|
rs771766993
|
0.00001
|
NM_001605.3(AARS1):c.2178-11C>T
|
rs760545411
|
0.00001
|
NM_001605.3(AARS1):c.2178-5T>C
|
rs1959978076
|
0.00001
|
NM_001605.3(AARS1):c.2178-7C>T
|
rs773114681
|
0.00001
|
NM_001605.3(AARS1):c.2178-9G>C
|
rs1044805095
|
0.00001
|
NM_001605.3(AARS1):c.2182C>T (p.Leu728=)
|
rs761565869
|
0.00001
|
NM_001605.3(AARS1):c.2191T>G (p.Ser731Ala)
|
rs139720461
|
0.00001
|
NM_001605.3(AARS1):c.2199T>C (p.His733=)
|
rs781647738
|
0.00001
|
NM_001605.3(AARS1):c.2238C>T (p.Ala746=)
|
rs767405300
|
0.00001
|
NM_001605.3(AARS1):c.2310G>A (p.Leu770=)
|
rs1341075826
|
0.00001
|
NM_001605.3(AARS1):c.2326G>C (p.Val776Leu)
|
rs373664027
|
0.00001
|
NM_001605.3(AARS1):c.2328C>T (p.Val776=)
|
rs146969194
|
0.00001
|
NM_001605.3(AARS1):c.2361A>C (p.Pro787=)
|
rs768782095
|
0.00001
|
NM_001605.3(AARS1):c.2385C>T (p.Ile795=)
|
rs1283711323
|
0.00001
|
NM_001605.3(AARS1):c.2400+15C>T
|
rs893389199
|
0.00001
|
NM_001605.3(AARS1):c.2401-15G>A
|
rs763386228
|
0.00001
|
NM_001605.3(AARS1):c.2401-17T>C
|
rs1200891254
|
0.00001
|
NM_001605.3(AARS1):c.2403C>G (p.Ala801=)
|
rs771133578
|
0.00001
|
NM_001605.3(AARS1):c.2409C>T (p.Ala803=)
|
rs1329271301
|
0.00001
|
NM_001605.3(AARS1):c.2412T>C (p.Thr804=)
|
rs761717573
|
0.00001
|
NM_001605.3(AARS1):c.2508T>C (p.Asp836=)
|
rs745577157
|
0.00001
|
NM_001605.3(AARS1):c.2521-5T>G
|
rs1555539335
|
0.00001
|
NM_001605.3(AARS1):c.2535G>A (p.Thr845=)
|
rs770634653
|
0.00001
|
NM_001605.3(AARS1):c.2550C>T (p.Asp850=)
|
rs575239120
|
0.00001
|
NM_001605.3(AARS1):c.2608-14G>A
|
rs1959894512
|
0.00001
|
NM_001605.3(AARS1):c.2608-17C>T
|
rs955702969
|
0.00001
|
NM_001605.3(AARS1):c.2673G>A (p.Thr891=)
|
rs762556251
|
0.00001
|
NM_001605.3(AARS1):c.2706G>T (p.Leu902=)
|
rs1214694193
|
0.00001
|
NM_001605.3(AARS1):c.2751C>T (p.Ser917=)
|
rs183076680
|
0.00001
|
NM_001605.3(AARS1):c.2754G>A (p.Glu918=)
|
rs754523456
|
0.00001
|
NM_001605.3(AARS1):c.2835T>C (p.Val945=)
|
rs1192286853
|
0.00001
|
NM_001605.3(AARS1):c.2853G>A (p.Ala951=)
|
rs971588937
|
0.00001
|
NM_001605.3(AARS1):c.288C>T (p.Thr96=)
|
rs1373682530
|
0.00001
|
NM_001605.3(AARS1):c.334-10C>A
|
rs758124515
|
0.00001
|
NM_001605.3(AARS1):c.334-19C>G
|
rs566683181
|
0.00001
|
NM_001605.3(AARS1):c.337T>C (p.Leu113=)
|
rs753375843
|
0.00001
|
NM_001605.3(AARS1):c.354T>C (p.Ala118=)
|
rs762054951
|
0.00001
|
NM_001605.3(AARS1):c.429A>C (p.Ala143=)
|
rs1457318201
|
0.00001
|
NM_001605.3(AARS1):c.481C>T (p.Leu161=)
|
rs1323502835
|
0.00001
|
NM_001605.3(AARS1):c.498C>T (p.Ile166=)
|
rs999924082
|
0.00001
|
NM_001605.3(AARS1):c.501C>T (p.Leu167=)
|
rs1567608510
|
0.00001
|
NM_001605.3(AARS1):c.540C>T (p.Asp180=)
|
rs1486931495
|
0.00001
|
NM_001605.3(AARS1):c.549C>G (p.Pro183=)
|
rs749065539
|
0.00001
|
NM_001605.3(AARS1):c.576C>T (p.Tyr192=)
|
rs930696946
|
0.00001
|
NM_001605.3(AARS1):c.634C>T (p.Leu212=)
|
rs777378111
|
0.00001
|
NM_001605.3(AARS1):c.63C>T (p.Asn21=)
|
rs773045737
|
0.00001
|
NM_001605.3(AARS1):c.642C>A (p.Ile214=)
|
rs758977241
|
0.00001
|
NM_001605.3(AARS1):c.672-5T>C
|
rs777431545
|
0.00001
|
NM_001605.3(AARS1):c.72G>A (p.Thr24=)
|
rs780609058
|
0.00001
|
NM_001605.3(AARS1):c.816+13T>C
|
rs1274873587
|
0.00001
|
NM_001605.3(AARS1):c.816+9G>A
|
rs749694980
|
0.00001
|
NM_001605.3(AARS1):c.817-20C>T
|
rs761335139
|
0.00001
|
NM_001605.3(AARS1):c.817-4A>G
|
rs746210439
|
0.00001
|
NM_001605.3(AARS1):c.81C>T (p.His27=)
|
rs750765656
|
0.00001
|
NM_001605.3(AARS1):c.830G>A (p.Arg277Gln)
|
rs541788902
|
0.00001
|
NM_001605.3(AARS1):c.864C>T (p.Ala288=)
|
rs765247500
|
0.00001
|
NM_001605.3(AARS1):c.885C>T (p.Tyr295=)
|
rs1960351225
|
0.00001
|
NM_001605.3(AARS1):c.897T>C (p.Ala299=)
|
rs2507016776
|
0.00001
|
NM_001605.3(AARS1):c.909G>T (p.Arg303=)
|
rs1344681812
|
0.00001
|
NM_001605.3(AARS1):c.957G>A (p.Gly319=)
|
rs762546700
|
0.00001
|
NM_001605.3(AARS1):c.962+15C>T
|
rs779150762
|
0.00001
|
NM_001605.3(AARS1):c.963-6T>C
|
rs768897279
|
0.00001
|
NM_001605.3(AARS1):c.963-9C>T
|
rs1282389074
|
0.00001
|
NM_002047.4(GARS1):c.1031+7C>T
|
rs1259749685
|
0.00001
|
NM_002047.4(GARS1):c.1041A>C (p.Thr347=)
|
rs1476002571
|
0.00001
|
NM_002047.4(GARS1):c.1059C>T (p.His353=)
|
rs886062273
|
0.00001
|
NM_002047.4(GARS1):c.108C>T (p.Leu36=)
|
rs1166263515
|
0.00001
|
NM_002047.4(GARS1):c.1107A>C (p.Ala369=)
|
rs1562777680
|
0.00001
|
NM_002047.4(GARS1):c.114G>T (p.Ala38=)
|
rs764791266
|
0.00001
|
NM_002047.4(GARS1):c.1188T>C (p.Val396=)
|
rs779184435
|
0.00001
|
NM_002047.4(GARS1):c.1195-19T>C
|
rs377525562
|
0.00001
|
NM_002047.4(GARS1):c.1254G>A (p.Thr418=)
|
rs552538763
|
0.00001
|
NM_002047.4(GARS1):c.1268C>T (p.Ser423Phe)
|
rs774169230
|
0.00001
|
NM_002047.4(GARS1):c.1359+17T>G
|
rs752010804
|
0.00001
|
NM_002047.4(GARS1):c.1468-15T>C
|
rs2534321273
|
0.00001
|
NM_002047.4(GARS1):c.1518G>A (p.Lys506=)
|
rs1783029490
|
0.00001
|
NM_002047.4(GARS1):c.1529A>G (p.Lys510Arg)
|
rs767720657
|
0.00001
|
NM_002047.4(GARS1):c.1608G>A (p.Glu536=)
|
rs927151250
|
0.00001
|
NM_002047.4(GARS1):c.1613+7T>C
|
rs374795892
|
0.00001
|
NM_002047.4(GARS1):c.162C>T (p.Ser54=)
|
rs758434035
|
0.00001
|
NM_002047.4(GARS1):c.1642A>C (p.Thr548Pro)
|
rs755658988
|
0.00001
|
NM_002047.4(GARS1):c.1699+18A>G
|
rs1422528977
|
0.00001
|
NM_002047.4(GARS1):c.1700-17T>C
|
rs775676664
|
0.00001
|
NM_002047.4(GARS1):c.1782T>C (p.His594=)
|
rs762072215
|
0.00001
|
NM_002047.4(GARS1):c.1784T>C (p.Val595Ala)
|
rs373694973
|
0.00001
|
NM_002047.4(GARS1):c.1809+16C>T
|
rs752229312
|
0.00001
|
NM_002047.4(GARS1):c.1827T>C (p.Ala609=)
|
rs2128136202
|
0.00001
|
NM_002047.4(GARS1):c.1836T>G (p.Ala612=)
|
rs759595437
|
0.00001
|
NM_002047.4(GARS1):c.1854C>T (p.Val618=)
|
rs1783234008
|
0.00001
|
NM_002047.4(GARS1):c.189G>C (p.Val63=)
|
rs770685104
|
0.00001
|
NM_002047.4(GARS1):c.1904-19C>T
|
rs1204535363
|
0.00001
|
NM_002047.4(GARS1):c.1995C>T (p.Gly665=)
|
rs1256053017
|
0.00001
|
NM_002047.4(GARS1):c.1996G>A (p.Val666Met)
|
rs544634101
|
0.00001
|
NM_002047.4(GARS1):c.2049T>C (p.Thr683=)
|
rs1783254872
|
0.00001
|
NM_002047.4(GARS1):c.2064C>T (p.Asp688=)
|
rs528105619
|
0.00001
|
NM_002047.4(GARS1):c.207A>G (p.Leu69=)
|
rs891212642
|
0.00001
|
NM_002047.4(GARS1):c.2094+12T>C
|
rs1037172524
|
0.00001
|
NM_002047.4(GARS1):c.2159A>C (p.Glu720Ala)
|
rs530891983
|
0.00001
|
NM_002047.4(GARS1):c.2205G>A (p.Glu735=)
|
rs746553499
|
0.00001
|
NM_002047.4(GARS1):c.2211C>T (p.Ile737=)
|
rs886062274
|
0.00001
|
NM_002047.4(GARS1):c.223-5G>A
|
rs917554333
|
0.00001
|
NM_002047.4(GARS1):c.223-5G>T
|
rs917554333
|
0.00001
|
NM_002047.4(GARS1):c.234G>A (p.Val78=)
|
rs376199921
|
0.00001
|
NM_002047.4(GARS1):c.282A>G (p.Ala94=)
|
rs571004464
|
0.00001
|
NM_002047.4(GARS1):c.300C>G (p.Ala100=)
|
rs781432743
|
0.00001
|
NM_002047.4(GARS1):c.384G>A (p.Leu128=)
|
rs886062272
|
0.00001
|
NM_002047.4(GARS1):c.427+12A>G
|
rs1171383899
|
0.00001
|
NM_002047.4(GARS1):c.427+14G>T
|
rs1451264630
|
0.00001
|
NM_002047.4(GARS1):c.428-9A>G
|
rs1232861718
|
0.00001
|
NM_002047.4(GARS1):c.43G>A (p.Ala15Thr)
|
rs764698848
|
0.00001
|
NM_002047.4(GARS1):c.48G>A (p.Leu16=)
|
rs1490209549
|
0.00001
|
NM_002047.4(GARS1):c.492C>G (p.Thr164=)
|
rs368297381
|
0.00001
|
NM_002047.4(GARS1):c.507T>C (p.Phe169=)
|
rs1791368083
|
0.00001
|
NM_002047.4(GARS1):c.537T>C (p.Asp179=)
|
rs772899197
|
0.00001
|
NM_002047.4(GARS1):c.585A>T (p.Val195=)
|
rs1272746326
|
0.00001
|
NM_002047.4(GARS1):c.633T>C (p.Cys211=)
|
rs373018941
|
0.00001
|
NM_002047.4(GARS1):c.642T>C (p.Ala214=)
|
rs749591032
|
0.00001
|
NM_002047.4(GARS1):c.658+13A>T
|
rs1326841372
|
0.00001
|
NM_002047.4(GARS1):c.658+17C>T
|
rs761669283
|
0.00001
|
NM_002047.4(GARS1):c.658+18C>T
|
rs771860802
|
0.00001
|
NM_002047.4(GARS1):c.723T>C (p.Ser241=)
|
rs767839744
|
0.00001
|
NM_002047.4(GARS1):c.72C>T (p.Leu24=)
|
rs768665866
|
0.00001
|
NM_002047.4(GARS1):c.736-13A>G
|
rs767092534
|
0.00001
|
NM_002047.4(GARS1):c.736-17C>T
|
rs763782424
|
0.00001
|
NM_002047.4(GARS1):c.750A>C (p.Gly250=)
|
rs766799218
|
0.00001
|
NM_002047.4(GARS1):c.766G>C (p.Asp256His)
|
rs201399681
|
0.00001
|
NM_002047.4(GARS1):c.784A>G (p.Asn262Asp)
|
rs745875431
|
0.00001
|
NM_002047.4(GARS1):c.804T>C (p.Thr268=)
|
rs774076531
|
0.00001
|
NM_002047.4(GARS1):c.838T>C (p.Leu280=)
|
rs1190006892
|
0.00001
|
NM_002047.4(GARS1):c.861G>T (p.Gly287=)
|
rs1217614307
|
0.00001
|
NM_002047.4(GARS1):c.881+20T>C
|
rs781026645
|
0.00001
|
NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=)
|
rs773013486
|
0.00001
|
NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=)
|
rs1419120176
|
0.00001
|
NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=)
|
rs1247103419
|
0.00001
|
NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=)
|
rs376473360
|
0.00001
|
NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=)
|
rs137852670
|
0.00001
|
NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val)
|
rs374845226
|
0.00001
|
NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=)
|
rs570558952
|
0.00001
|
NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=)
|
rs35995205
|
0.00001
|
NM_002180.3(IGHMBP2):c.1140C>T (p.Ala380=)
|
rs1176740254
|
0.00001
|
NM_002180.3(IGHMBP2):c.1167G>C (p.Leu389=)
|
rs369809006
|
0.00001
|
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=)
|
rs756733490
|
0.00001
|
NM_002180.3(IGHMBP2):c.1235+894C>T
|
rs1202430946
|
0.00001
|
NM_002180.3(IGHMBP2):c.1235+9C>T
|
rs553889213
|
0.00001
|
NM_002180.3(IGHMBP2):c.1236-4G>A
|
rs746867102
|
0.00001
|
NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=)
|
rs1345673085
|
0.00001
|
NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=)
|
rs759035035
|
0.00001
|
NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=)
|
rs368706911
|
0.00001
|
NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln)
|
rs752225738
|
0.00001
|
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=)
|
rs1209510520
|
0.00001
|
NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=)
|
rs1321342951
|
0.00001
|
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=)
|
rs1302845532
|
0.00001
|
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=)
|
rs1484199036
|
0.00001
|
NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=)
|
rs1036050370
|
0.00001
|
NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=)
|
rs1368846781
|
0.00001
|
NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=)
|
rs1433957850
|
0.00001
|
NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=)
|
rs781498577
|
0.00001
|
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=)
|
rs370367228
|
0.00001
|
NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)
|
rs756513980
|
0.00001
|
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=)
|
rs538496164
|
0.00001
|
NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=)
|
rs1244801084
|
0.00001
|
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=)
|
rs1210997043
|
0.00001
|
NM_002180.3(IGHMBP2):c.1537+9G>C
|
rs1859419581
|
0.00001
|
NM_002180.3(IGHMBP2):c.1538-5T>G
|
rs747717257
|
0.00001
|
NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)
|
rs1168656232
|
0.00001
|
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=)
|
rs988590959
|
0.00001
|
NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=)
|
rs1318640024
|
0.00001
|
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=)
|
rs746241618
|
0.00001
|
NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=)
|
rs200269024
|
0.00001
|
NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=)
|
rs747822666
|
0.00001
|
NM_002180.3(IGHMBP2):c.1632+16T>G
|
rs2496062364
|
0.00001
|
NM_002180.3(IGHMBP2):c.1633-15C>T
|
rs144167929
|
0.00001
|
NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=)
|
rs746048688
|
0.00001
|
NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=)
|
rs763399210
|
0.00001
|
NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=)
|
rs200081534
|
0.00001
|
NM_002180.3(IGHMBP2):c.1756+8G>T
|
rs1441125557
|
0.00001
|
NM_002180.3(IGHMBP2):c.1757-6T>C
|
rs1594455341
|
0.00001
|
NM_002180.3(IGHMBP2):c.1757-9C>T
|
rs1319555836
|
0.00001
|
NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=)
|
rs1388384906
|
0.00001
|
NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=)
|
rs758318773
|
0.00001
|
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=)
|
rs1859531837
|
0.00001
|
NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=)
|
rs779008961
|
0.00001
|
NM_002180.3(IGHMBP2):c.1983C>T (p.His661=)
|
rs752907111
|
0.00001
|
NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=)
|
rs778151623
|
0.00001
|
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=)
|
rs111366439
|
0.00001
|
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=)
|
rs886048606
|
0.00001
|
NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=)
|
rs773046519
|
0.00001
|
NM_002180.3(IGHMBP2):c.2259C>T (p.His753=)
|
rs777663590
|
0.00001
|
NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=)
|
rs746766846
|
0.00001
|
NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=)
|
rs1340282313
|
0.00001
|
NM_002180.3(IGHMBP2):c.2307C>T (p.His769=)
|
rs909093295
|
0.00001
|
NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=)
|
rs752117472
|
0.00001
|
NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=)
|
rs1349360990
|
0.00001
|
NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=)
|
rs1215678700
|
0.00001
|
NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=)
|
rs763818374
|
0.00001
|
NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=)
|
rs781002308
|
0.00001
|
NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=)
|
rs1429055770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=)
|
rs1165471451
|
0.00001
|
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=)
|
rs1594415602
|
0.00001
|
NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=)
|
rs1456673571
|
0.00001
|
NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=)
|
rs1005880496
|
0.00001
|
NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=)
|
rs1218404642
|
0.00001
|
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=)
|
rs1057524376
|
0.00001
|
NM_002180.3(IGHMBP2):c.2496G>A (p.Thr832=)
|
rs756948501
|
0.00001
|
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=)
|
rs371840404
|
0.00001
|
NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=)
|
rs563460158
|
0.00001
|
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=)
|
rs746248057
|
0.00001
|
NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=)
|
rs767165293
|
0.00001
|
NM_002180.3(IGHMBP2):c.256+7G>A
|
rs1312545588
|
0.00001
|
NM_002180.3(IGHMBP2):c.256+7del
|
rs1381688078
|
0.00001
|
NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=)
|
rs1463886387
|
0.00001
|
NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=)
|
rs1859576703
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+20C>T
|
rs1439375352
|
0.00001
|
NM_002180.3(IGHMBP2):c.2611+9A>G
|
rs778897070
|
0.00001
|
NM_002180.3(IGHMBP2):c.2612-11G>A
|
rs1859624246
|
0.00001
|
NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=)
|
rs556654138
|
0.00001
|
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=)
|
rs770556515
|
0.00001
|
NM_002180.3(IGHMBP2):c.267G>C (p.Val89=)
|
rs932085759
|
0.00001
|
NM_002180.3(IGHMBP2):c.2688C>G (p.Thr896=)
|
rs1566448372
|
0.00001
|
NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=)
|
rs1234917202
|
0.00001
|
NM_002180.3(IGHMBP2):c.2784+15C>A
|
rs372512149
|
0.00001
|
NM_002180.3(IGHMBP2):c.2784+8G>A
|
rs939288295
|
0.00001
|
NM_002180.3(IGHMBP2):c.2785-13G>C
|
rs756619770
|
0.00001
|
NM_002180.3(IGHMBP2):c.2785-14T>G
|
rs749106508
|
0.00001
|
NM_002180.3(IGHMBP2):c.2785-19A>G
|
rs775213232
|
0.00001
|
NM_002180.3(IGHMBP2):c.2785-8C>T
|
rs1456866628
|
0.00001
|
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=)
|
rs112870015
|
0.00001
|
NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=)
|
rs752860280
|
0.00001
|
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=)
|
rs377433281
|
0.00001
|
NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=)
|
rs752024072
|
0.00001
|
NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=)
|
rs746988290
|
0.00001
|
NM_002180.3(IGHMBP2):c.2928G>A (p.Lys976=)
|
rs749364778
|
0.00001
|
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=)
|
rs768924538
|
0.00001
|
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=)
|
rs761315649
|
0.00001
|
NM_002180.3(IGHMBP2):c.2958C>T (p.Ser986=)
|
rs754380977
|
0.00001
|
NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=)
|
rs761196482
|
0.00001
|
NM_002180.3(IGHMBP2):c.342C>A (p.Val114=)
|
rs756861635
|
0.00001
|
NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=)
|
rs747166731
|
0.00001
|
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=)
|
rs1272309665
|
0.00001
|
NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=)
|
rs577941690
|
0.00001
|
NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=)
|
rs752694569
|
0.00001
|
NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=)
|
rs1381446523
|
0.00001
|
NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=)
|
rs1338970087
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+11C>T
|
rs1460632503
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+15G>A
|
rs776573019
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+19T>C
|
rs1858298712
|
0.00001
|
NM_002180.3(IGHMBP2):c.547+9T>G
|
rs886048603
|
0.00001
|
NM_002180.3(IGHMBP2):c.548-13G>T
|
rs1198884720
|
0.00001
|
NM_002180.3(IGHMBP2):c.585C>T (p.Ser195=)
|
rs1442536361
|
0.00001
|
NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=)
|
rs780961121
|
0.00001
|
NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=)
|
rs761677597
|
0.00001
|
NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=)
|
rs200932905
|
0.00001
|
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=)
|
rs755634860
|
0.00001
|
NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=)
|
rs1168042239
|
0.00001
|
NM_002180.3(IGHMBP2):c.711+10G>C
|
rs1484976321
|
0.00001
|
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=)
|
rs755582766
|
0.00001
|
NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=)
|
rs779554916
|
0.00001
|
NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=)
|
rs142485663
|
0.00001
|
NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=)
|
rs754581177
|
0.00001
|
NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=)
|
rs764462472
|
0.00001
|
NM_002180.3(IGHMBP2):c.756G>A (p.Val252=)
|
rs146386692
|
0.00001
|
NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=)
|
rs752373799
|
0.00001
|
NM_002180.3(IGHMBP2):c.86+19G>T
|
rs1245721716
|
0.00001
|
NM_002180.3(IGHMBP2):c.87-19A>G
|
rs183650590
|
0.00001
|
NM_002180.3(IGHMBP2):c.87-9G>A
|
rs562446187
|
0.00001
|
NM_002180.3(IGHMBP2):c.879T>C (p.Val293=)
|
rs1240899173
|
0.00001
|
NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=)
|
rs181492004
|
0.00001
|
NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=)
|
rs750403781
|
0.00001
|
NM_002180.3(IGHMBP2):c.912+10A>G
|
rs776941252
|
0.00001
|
NM_002180.3(IGHMBP2):c.913-10T>C
|
rs753653938
|
0.00001
|
NM_002180.3(IGHMBP2):c.913-19C>G
|
rs1858723305
|
0.00001
|
NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=)
|
rs1482496537
|
0.00001
|
NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=)
|
rs1428644615
|
0.00001
|
NM_004637.6(RAB7A):c.174A>G (p.Thr58=)
|
rs1933611219
|
0.00001
|
NM_004637.6(RAB7A):c.18A>G (p.Lys6=)
|
rs1183281292
|
0.00001
|
NM_004637.6(RAB7A):c.21G>A (p.Val7=)
|
rs140857794
|
0.00001
|
NM_004637.6(RAB7A):c.252C>T (p.Cys84=)
|
rs778176566
|
0.00001
|
NM_004637.6(RAB7A):c.321C>T (p.Leu107=)
|
rs749227632
|
0.00001
|
NM_004637.6(RAB7A):c.357A>G (p.Pro119=)
|
rs1576303724
|
0.00001
|
NM_004637.6(RAB7A):c.399+12C>T
|
rs760208660
|
0.00001
|
NM_004637.6(RAB7A):c.399+14A>G
|
rs753242341
|
0.00001
|
NM_004637.6(RAB7A):c.400-10C>T
|
rs756353516
|
0.00001
|
NM_004637.6(RAB7A):c.400-16C>G
|
rs372568290
|
0.00001
|
NM_004637.6(RAB7A):c.543G>A (p.Glu181=)
|
rs887111279
|
0.00001
|
NM_004637.6(RAB7A):c.57C>T (p.Val19=)
|
rs373510884
|
0.00001
|
NM_004990.4(MARS1):c.1008C>T (p.Tyr336=)
|
rs764131535
|
0.00001
|
NM_004990.4(MARS1):c.1091+15A>T
|
rs765042320
|
0.00001
|
NM_004990.4(MARS1):c.1091+20G>A
|
rs2540287236
|
0.00001
|
NM_004990.4(MARS1):c.1092-6C>T
|
rs747944261
|
0.00001
|
NM_004990.4(MARS1):c.1095C>T (p.Ile365=)
|
rs1555167079
|
0.00001
|
NM_004990.4(MARS1):c.1164A>G (p.Arg388=)
|
rs1460715874
|
0.00001
|
NM_004990.4(MARS1):c.1200C>T (p.Phe400=)
|
rs770827674
|
0.00001
|
NM_004990.4(MARS1):c.1212G>A (p.Val404=)
|
rs2140019580
|
0.00001
|
NM_004990.4(MARS1):c.1293+17C>T
|
rs1209786533
|
0.00001
|
NM_004990.4(MARS1):c.1296G>A (p.Lys432=)
|
rs1307813628
|
0.00001
|
NM_004990.4(MARS1):c.1311C>T (p.Val437=)
|
rs763756001
|
0.00001
|
NM_004990.4(MARS1):c.132C>T (p.Thr44=)
|
rs1555165361
|
0.00001
|
NM_004990.4(MARS1):c.1332G>A (p.Val444=)
|
rs1594824620
|
0.00001
|
NM_004990.4(MARS1):c.1338G>A (p.Ser446=)
|
rs781410179
|
0.00001
|
NM_004990.4(MARS1):c.1368+15C>T
|
rs371511467
|
0.00001
|
NM_004990.4(MARS1):c.1369-10G>A
|
rs776084640
|
0.00001
|
NM_004990.4(MARS1):c.1393T>C (p.Leu465=)
|
rs766084248
|
0.00001
|
NM_004990.4(MARS1):c.1428C>G (p.Pro476=)
|
rs756430531
|
0.00001
|
NM_004990.4(MARS1):c.1524A>G (p.Glu508=)
|
rs754137221
|
0.00001
|
NM_004990.4(MARS1):c.1635+11C>A
|
rs758827704
|
0.00001
|
NM_004990.4(MARS1):c.1636-16A>G
|
rs781497017
|
0.00001
|
NM_004990.4(MARS1):c.1636-7C>G
|
rs563778768
|
0.00001
|
NM_004990.4(MARS1):c.1642C>T (p.Leu548=)
|
rs922686526
|
0.00001
|
NM_004990.4(MARS1):c.1716G>A (p.Glu572=)
|
rs761794855
|
0.00001
|
NM_004990.4(MARS1):c.1754-11C>T
|
rs1877582119
|
0.00001
|
NM_004990.4(MARS1):c.1794C>T (p.Arg598=)
|
rs758046761
|
0.00001
|
NM_004990.4(MARS1):c.1830G>A (p.Thr610=)
|
rs149742633
|
0.00001
|
NM_004990.4(MARS1):c.1968-10C>T
|
rs773836689
|
0.00001
|
NM_004990.4(MARS1):c.1968-19T>C
|
rs1010906235
|
0.00001
|
NM_004990.4(MARS1):c.1998G>A (p.Gly666=)
|
rs1012120393
|
0.00001
|
NM_004990.4(MARS1):c.200+18G>A
|
rs764221234
|
0.00001
|
NM_004990.4(MARS1):c.201-20G>A
|
rs747002983
|
0.00001
|
NM_004990.4(MARS1):c.2079C>T (p.His693=)
|
rs1298123253
|
0.00001
|
NM_004990.4(MARS1):c.2099+12A>T
|
rs1877705124
|
0.00001
|
NM_004990.4(MARS1):c.2099+13C>T
|
rs1471902859
|
0.00001
|
NM_004990.4(MARS1):c.2115G>A (p.Leu705=)
|
rs1372985175
|
0.00001
|
NM_004990.4(MARS1):c.2205-10T>C
|
rs1157895262
|
0.00001
|
NM_004990.4(MARS1):c.2313G>T (p.Leu771=)
|
rs1381114924
|
0.00001
|
NM_004990.4(MARS1):c.231A>G (p.Gln77=)
|
rs142153017
|
0.00001
|
NM_004990.4(MARS1):c.2464-18A>G
|
rs747321242
|
0.00001
|
NM_004990.4(MARS1):c.2694G>A (p.Lys898=)
|
rs773012186
|
0.00001
|
NM_004990.4(MARS1):c.330G>T (p.Gly110=)
|
rs746237960
|
0.00001
|
NM_004990.4(MARS1):c.363G>C (p.Leu121=)
|
rs1211161056
|
0.00001
|
NM_004990.4(MARS1):c.414+8G>A
|
rs371003913
|
0.00001
|
NM_004990.4(MARS1):c.415-9C>T
|
rs550918957
|
0.00001
|
NM_004990.4(MARS1):c.423A>G (p.Glu141=)
|
rs781535269
|
0.00001
|
NM_004990.4(MARS1):c.432C>T (p.Ala144=)
|
rs1046252025
|
0.00001
|
NM_004990.4(MARS1):c.483C>T (p.Tyr161=)
|
rs1487140877
|
0.00001
|
NM_004990.4(MARS1):c.490+9T>C
|
rs750550521
|
0.00001
|
NM_004990.4(MARS1):c.491-15C>T
|
rs1389820721
|
0.00001
|
NM_004990.4(MARS1):c.491-5C>G
|
rs761648454
|
0.00001
|
NM_004990.4(MARS1):c.496C>T (p.Leu166=)
|
rs760702485
|
0.00001
|
NM_004990.4(MARS1):c.576G>A (p.Gln192=)
|
rs749862419
|
0.00001
|
NM_004990.4(MARS1):c.615G>A (p.Gln205=)
|
rs1206801096
|
0.00001
|
NM_004990.4(MARS1):c.663+19C>G
|
rs746539003
|
0.00001
|
NM_004990.4(MARS1):c.663+8A>C
|
rs199843552
|
0.00001
|
NM_004990.4(MARS1):c.771-10T>G
|
rs750229151
|
0.00001
|
NM_004990.4(MARS1):c.849C>T (p.Asn283=)
|
rs764572846
|
0.00001
|
NM_004990.4(MARS1):c.87C>T (p.Leu29=)
|
rs755807464
|
0.00001
|
NM_004990.4(MARS1):c.888-5T>C
|
rs1392427416
|
0.00001
|
NM_004990.4(MARS1):c.960C>A (p.Thr320=)
|
rs976087211
|
0.00001
|
NM_004990.4(MARS1):c.999C>T (p.Cys333=)
|
rs775376086
|
0.00001
|
NM_006158.5(NEFL):c.1050G>A (p.Thr350=)
|
rs774006640
|
0.00001
|
NM_006158.5(NEFL):c.1086G>A (p.Lys362=)
|
rs1013536878
|
0.00001
|
NM_006158.5(NEFL):c.123C>T (p.Ser41=)
|
rs57762083
|
0.00001
|
NM_006158.5(NEFL):c.1320G>A (p.Pro440=)
|
rs541109299
|
0.00001
|
NM_006158.5(NEFL):c.1380T>C (p.Ala460=)
|
rs774138147
|
0.00001
|
NM_006158.5(NEFL):c.1395A>G (p.Glu465=)
|
rs755320728
|
0.00001
|
NM_006158.5(NEFL):c.141G>A (p.Val47=)
|
rs886062835
|
0.00001
|
NM_006158.5(NEFL):c.1428C>T (p.Ala476=)
|
rs1455394179
|
0.00001
|
NM_006158.5(NEFL):c.1489+17C>G
|
rs374041592
|
0.00001
|
NM_006158.5(NEFL):c.1578G>A (p.Glu526=)
|
rs759816126
|
0.00001
|
NM_006158.5(NEFL):c.210C>T (p.Asn70=)
|
rs745835727
|
0.00001
|
NM_006158.5(NEFL):c.219G>A (p.Leu73=)
|
rs1321286875
|
0.00001
|
NM_006158.5(NEFL):c.228A>G (p.Val76=)
|
rs1348671761
|
0.00001
|
NM_006158.5(NEFL):c.231C>G (p.Ala77=)
|
rs897017935
|
0.00001
|
NM_006158.5(NEFL):c.30C>T (p.Tyr10=)
|
rs1484620251
|
0.00001
|
NM_006158.5(NEFL):c.36C>T (p.Thr12=)
|
rs773399177
|
0.00001
|
NM_006158.5(NEFL):c.372G>A (p.Val124=)
|
rs1433367736
|
0.00001
|
NM_006158.5(NEFL):c.390C>G (p.Ser130=)
|
rs1430281104
|
0.00001
|
NM_006158.5(NEFL):c.436C>T (p.Leu146=)
|
rs772789963
|
0.00001
|
NM_006158.5(NEFL):c.489G>A (p.Glu163=)
|
rs777795133
|
0.00001
|
NM_006158.5(NEFL):c.597C>T (p.Ala199=)
|
rs1423856572
|
0.00001
|
NM_006158.5(NEFL):c.612C>T (p.Leu204=)
|
rs370031604
|
0.00001
|
NM_006158.5(NEFL):c.621C>T (p.Ala207=)
|
rs763294014
|
0.00001
|
NM_006158.5(NEFL):c.63G>T (p.Thr21=)
|
rs1246523840
|
0.00001
|
NM_006158.5(NEFL):c.66C>T (p.Pro22=)
|
rs1208531254
|
0.00001
|
NM_006158.5(NEFL):c.720C>T (p.Tyr240=)
|
rs58975336
|
0.00001
|
NM_006158.5(NEFL):c.738G>A (p.Glu246=)
|
rs773570540
|
0.00001
|
NM_006158.5(NEFL):c.777G>A (p.Lys259=)
|
rs369644605
|
0.00001
|
NM_006158.5(NEFL):c.780C>T (p.Asp260=)
|
rs878854817
|
0.00001
|
NM_006158.5(NEFL):c.816C>T (p.Asn272=)
|
rs373809857
|
0.00001
|
NM_006158.5(NEFL):c.873C>T (p.Ala291=)
|
rs1466451392
|
0.00001
|
NM_006158.5(NEFL):c.891C>T (p.Ala297=)
|
rs376560820
|
0.00001
|
NM_006158.5(NEFL):c.936C>T (p.Leu312=)
|
rs371515323
|
0.00001
|
NM_006158.5(NEFL):c.945G>A (p.Lys315=)
|
rs779559532
|
0.00001
|
NM_014365.3(HSPB8):c.174C>T (p.Ser58=)
|
rs56046128
|
0.00001
|
NM_014365.3(HSPB8):c.198G>A (p.Ser66=)
|
rs1041884451
|
0.00001
|
NM_014365.3(HSPB8):c.249C>T (p.Ala83=)
|
rs1173959362
|
0.00001
|
NM_014365.3(HSPB8):c.264C>A (p.Pro88=)
|
rs746791744
|
0.00001
|
NM_014365.3(HSPB8):c.273C>T (p.Phe91=)
|
rs540697245
|
0.00001
|
NM_014365.3(HSPB8):c.309C>T (p.His103=)
|
rs1401613594
|
0.00001
|
NM_014365.3(HSPB8):c.312C>T (p.Ser104=)
|
rs2500034885
|
0.00001
|
NM_014365.3(HSPB8):c.357G>A (p.Val119=)
|
rs1196313978
|
0.00001
|
NM_014365.3(HSPB8):c.367+18G>A
|
rs894486848
|
0.00001
|
NM_014365.3(HSPB8):c.375T>C (p.His125=)
|
rs923916572
|
0.00001
|
NM_014365.3(HSPB8):c.483G>A (p.Glu161=)
|
rs1481334800
|
0.00001
|
NM_014365.3(HSPB8):c.498C>T (p.Ile166=)
|
rs1300830983
|
0.00001
|
NM_014365.3(HSPB8):c.81C>T (p.Ser27=)
|
rs1954620581
|
0.00001
|
NM_014365.3(HSPB8):c.87C>A (p.Arg29=)
|
rs773298891
|
0.00001
|
NM_014365.3(HSPB8):c.88C>T (p.Leu30=)
|
rs1954620683
|
0.00001
|
NM_014874.4(MFN2):c.1038+17_1038+20dup
|
rs1196023090
|
0.00001
|
NM_014874.4(MFN2):c.1039-20C>T
|
rs1253046105
|
0.00001
|
NM_014874.4(MFN2):c.1086G>A (p.Thr362=)
|
rs749652300
|
0.00001
|
NM_014874.4(MFN2):c.1161-7C>T
|
rs1414918598
|
0.00001
|
NM_014874.4(MFN2):c.1170C>T (p.Cys390=)
|
rs1639292680
|
0.00001
|
NM_014874.4(MFN2):c.117C>A (p.Ile39=)
|
rs1288073943
|
0.00001
|
NM_014874.4(MFN2):c.1191G>A (p.Arg397=)
|
rs758952131
|
0.00001
|
NM_014874.4(MFN2):c.1201C>T (p.Leu401=)
|
rs547577445
|
0.00001
|
NM_014874.4(MFN2):c.120T>C (p.Asn40=)
|
rs756467977
|
0.00001
|
NM_014874.4(MFN2):c.1293G>T (p.Ser431=)
|
rs751915674
|
0.00001
|
NM_014874.4(MFN2):c.1305C>T (p.Ala435=)
|
rs1374507919
|
0.00001
|
NM_014874.4(MFN2):c.1330C>T (p.Leu444=)
|
rs1639318979
|
0.00001
|
NM_014874.4(MFN2):c.1338C>T (p.Asp446=)
|
rs376300393
|
0.00001
|
NM_014874.4(MFN2):c.1374C>G (p.Val458=)
|
rs760253679
|
0.00001
|
NM_014874.4(MFN2):c.1392+20G>T
|
rs1367301944
|
0.00001
|
NM_014874.4(MFN2):c.1393-14T>A
|
rs779242620
|
0.00001
|
NM_014874.4(MFN2):c.1413G>A (p.Glu471=)
|
rs745360979
|
0.00001
|
NM_014874.4(MFN2):c.1470G>A (p.Leu490=)
|
rs1639336153
|
0.00001
|
NM_014874.4(MFN2):c.147C>T (p.Tyr49=)
|
rs755575773
|
0.00001
|
NM_014874.4(MFN2):c.1495+13G>A
|
rs1410965456
|
0.00001
|
NM_014874.4(MFN2):c.1496-18C>T
|
rs1639377395
|
0.00001
|
NM_014874.4(MFN2):c.1605T>C (p.Ala535=)
|
rs575884069
|
0.00001
|
NM_014874.4(MFN2):c.1677C>T (p.Pro559=)
|
rs1219420062
|
0.00001
|
NM_014874.4(MFN2):c.1716+8A>G
|
rs1639390139
|
0.00001
|
NM_014874.4(MFN2):c.1717-12T>G
|
rs757942090
|
0.00001
|
NM_014874.4(MFN2):c.1717-15T>C
|
rs752294693
|
0.00001
|
NM_014874.4(MFN2):c.1717-17C>T
|
rs765243288
|
0.00001
|
NM_014874.4(MFN2):c.1717-5C>T
|
rs1639425658
|
0.00001
|
NM_014874.4(MFN2):c.175+12C>A
|
rs186824858
|
0.00001
|
NM_014874.4(MFN2):c.175+8G>T
|
rs1310322504
|
0.00001
|
NM_014874.4(MFN2):c.176-4C>T
|
rs546254672
|
0.00001
|
NM_014874.4(MFN2):c.1770A>G (p.Pro590=)
|
rs776537176
|
0.00001
|
NM_014874.4(MFN2):c.1782C>T (p.Leu594=)
|
rs950932066
|
0.00001
|
NM_014874.4(MFN2):c.180G>A (p.Thr60=)
|
rs776601428
|
0.00001
|
NM_014874.4(MFN2):c.1815C>T (p.Thr605=)
|
rs751029047
|
0.00001
|
NM_014874.4(MFN2):c.1819C>T (p.Leu607=)
|
rs1639431336
|
0.00001
|
NM_014874.4(MFN2):c.1824C>T (p.Ala608=)
|
rs774988978
|
0.00001
|
NM_014874.4(MFN2):c.1872+20C>T
|
rs549245117
|
0.00001
|
NM_014874.4(MFN2):c.1873-14C>G
|
rs770138133
|
0.00001
|
NM_014874.4(MFN2):c.1873-19C>T
|
rs913333628
|
0.00001
|
NM_014874.4(MFN2):c.1935C>T (p.Tyr645=)
|
rs752881611
|
0.00001
|
NM_014874.4(MFN2):c.1938C>A (p.Val646=)
|
rs1040702840
|
0.00001
|
NM_014874.4(MFN2):c.1950G>A (p.Leu650=)
|
rs772030424
|
0.00001
|
NM_014874.4(MFN2):c.1971G>A (p.Lys657=)
|
rs764308150
|
0.00001
|
NM_014874.4(MFN2):c.1986G>A (p.Lys662=)
|
rs1260208756
|
0.00001
|
NM_014874.4(MFN2):c.1989C>G (p.Arg663=)
|
rs1479202884
|
0.00001
|
NM_014874.4(MFN2):c.2001G>A (p.Glu667=)
|
rs2100858555
|
0.00001
|
NM_014874.4(MFN2):c.2010C>T (p.Ser670=)
|
rs777640054
|
0.00001
|
NM_014874.4(MFN2):c.201C>T (p.Asp67=)
|
rs1553141644
|
0.00001
|
NM_014874.4(MFN2):c.2058C>T (p.His686=)
|
rs1040857073
|
0.00001
|
NM_014874.4(MFN2):c.205G>A (p.Val69Ile)
|
rs28940296
|
0.00001
|
NM_014874.4(MFN2):c.2069+10C>T
|
rs1243140256
|
0.00001
|
NM_014874.4(MFN2):c.2069+9C>T
|
rs760838540
|
0.00001
|
NM_014874.4(MFN2):c.2070-4C>G
|
rs762750555
|
0.00001
|
NM_014874.4(MFN2):c.210C>T (p.Thr70=)
|
rs1359317047
|
0.00001
|
NM_014874.4(MFN2):c.2204+10G>T
|
rs1445631790
|
0.00001
|
NM_014874.4(MFN2):c.2204+13C>T
|
rs200441797
|
0.00001
|
NM_014874.4(MFN2):c.2204+19G>C
|
rs770198532
|
0.00001
|
NM_014874.4(MFN2):c.2253G>A (p.Gln751=)
|
rs948203067
|
0.00001
|
NM_014874.4(MFN2):c.2256C>T (p.Tyr752=)
|
rs863224968
|
0.00001
|
NM_014874.4(MFN2):c.244C>T (p.Leu82=)
|
rs1194973053
|
0.00001
|
NM_014874.4(MFN2):c.311+7C>G
|
rs778692193
|
0.00001
|
NM_014874.4(MFN2):c.311+8C>T
|
rs747730092
|
0.00001
|
NM_014874.4(MFN2):c.312-18G>A
|
rs1185043219
|
0.00001
|
NM_014874.4(MFN2):c.312-19A>G
|
rs756393202
|
0.00001
|
NM_014874.4(MFN2):c.315G>A (p.Thr105=)
|
rs75138257
|
0.00001
|
NM_014874.4(MFN2):c.393T>C (p.Asn131=)
|
rs938784116
|
0.00001
|
NM_014874.4(MFN2):c.399C>T (p.Phe133=)
|
rs749714655
|
0.00001
|
NM_014874.4(MFN2):c.49A>G (p.Asn17Asp)
|
rs772477199
|
0.00001
|
NM_014874.4(MFN2):c.558T>C (p.Ser186=)
|
rs1280915201
|
0.00001
|
NM_014874.4(MFN2):c.582C>T (p.Asp194=)
|
rs772441576
|
0.00001
|
NM_014874.4(MFN2):c.585C>T (p.Leu195=)
|
rs200719689
|
0.00001
|
NM_014874.4(MFN2):c.600-14C>T
|
rs1199726906
|
0.00001
|
NM_014874.4(MFN2):c.600-7C>T
|
rs1173229373
|
0.00001
|
NM_014874.4(MFN2):c.693C>T (p.Ser231=)
|
rs774356643
|
0.00001
|
NM_014874.4(MFN2):c.708+10C>T
|
rs1639049020
|
0.00001
|
NM_014874.4(MFN2):c.709-19G>A
|
rs1639053304
|
0.00001
|
NM_014874.4(MFN2):c.709-9T>C
|
rs776259256
|
0.00001
|
NM_014874.4(MFN2):c.747C>T (p.Ser249=)
|
rs1297298356
|
0.00001
|
NM_014874.4(MFN2):c.78A>G (p.Ala26=)
|
rs764662159
|
0.00001
|
NM_014874.4(MFN2):c.817-14T>G
|
rs1255550586
|
0.00001
|
NM_014874.4(MFN2):c.817-7G>A
|
rs769298272
|
0.00001
|
NM_014874.4(MFN2):c.84A>C (p.Pro28=)
|
rs554067157
|
0.00001
|
NM_014874.4(MFN2):c.852C>T (p.Phe284=)
|
rs1420158447
|
0.00001
|
NM_014874.4(MFN2):c.912G>A (p.Val304=)
|
rs756104949
|
0.00001
|
NM_014874.4(MFN2):c.945G>A (p.Gln315=)
|
rs1569852176
|
0.00001
|
NM_014874.4(MFN2):c.963T>G (p.Pro321=)
|
rs1464024708
|
0.00001
|
NM_014874.4(MFN2):c.971-4C>G
|
rs1639186081
|
0.00001
|
NM_014874.4(MFN2):c.971-5C>T
|
rs749120321
|
0.00001
|
NM_015271.5(TRIM2):c.1014C>T (p.Ser338=)
|
rs749912017
|
0.00001
|
NM_015271.5(TRIM2):c.1110C>G (p.Pro370=)
|
rs1579434513
|
0.00001
|
NM_015271.5(TRIM2):c.1150C>T (p.Leu384=)
|
rs1315985223
|
0.00001
|
NM_015271.5(TRIM2):c.1155C>T (p.Cys385=)
|
rs561297159
|
0.00001
|
NM_015271.5(TRIM2):c.1167C>T (p.Asn389=)
|
rs778071561
|
0.00001
|
NM_015271.5(TRIM2):c.1320A>G (p.Arg440=)
|
rs750466896
|
0.00001
|
NM_015271.5(TRIM2):c.1329G>A (p.Pro443=)
|
rs781042864
|
0.00001
|
NM_015271.5(TRIM2):c.1392C>T (p.Arg464=)
|
rs141510470
|
0.00001
|
NM_015271.5(TRIM2):c.1434G>T (p.Val478=)
|
rs751706975
|
0.00001
|
NM_015271.5(TRIM2):c.1446A>G (p.Ala482=)
|
rs1373857269
|
0.00001
|
NM_015271.5(TRIM2):c.1491C>T (p.Asp497=)
|
rs746564907
|
0.00001
|
NM_015271.5(TRIM2):c.1510+9A>T
|
rs1279174333
|
0.00001
|
NM_015271.5(TRIM2):c.1511-11A>G
|
rs377614448
|
0.00001
|
NM_015271.5(TRIM2):c.1511-5T>C
|
rs1767394427
|
0.00001
|
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=)
|
rs773419235
|
0.00001
|
NM_015271.5(TRIM2):c.153T>C (p.Ser51=)
|
rs764154708
|
0.00001
|
NM_015271.5(TRIM2):c.1680G>A (p.Leu560=)
|
rs115278632
|
0.00001
|
NM_015271.5(TRIM2):c.168G>T (p.Arg56=)
|
rs909897473
|
0.00001
|
NM_015271.5(TRIM2):c.1698G>A (p.Val566=)
|
rs747022098
|
0.00001
|
NM_015271.5(TRIM2):c.1770T>C (p.Asp590=)
|
rs2546633501
|
0.00001
|
NM_015271.5(TRIM2):c.1783-10T>C
|
rs1448725164
|
0.00001
|
NM_015271.5(TRIM2):c.183G>A (p.Lys61=)
|
rs1156297928
|
0.00001
|
NM_015271.5(TRIM2):c.1875C>T (p.Cys625=)
|
rs372665843
|
0.00001
|
NM_015271.5(TRIM2):c.189C>T (p.Leu63=)
|
rs558845725
|
0.00001
|
NM_015271.5(TRIM2):c.1923C>T (p.Ser641=)
|
rs1579721568
|
0.00001
|
NM_015271.5(TRIM2):c.2022+19T>C
|
rs765231303
|
0.00001
|
NM_015271.5(TRIM2):c.2023-10T>C
|
rs1310667550
|
0.00001
|
NM_015271.5(TRIM2):c.2139C>T (p.Ala713=)
|
rs773958934
|
0.00001
|
NM_015271.5(TRIM2):c.215+7C>T
|
rs1210391935
|
0.00001
|
NM_015271.5(TRIM2):c.2151C>T (p.Asn717=)
|
rs200941361
|
0.00001
|
NM_015271.5(TRIM2):c.2163+14C>T
|
rs1333917295
|
0.00001
|
NM_015271.5(TRIM2):c.2164-16T>C
|
rs964354274
|
0.00001
|
NM_015271.5(TRIM2):c.2220C>G (p.Leu740=)
|
rs763024851
|
0.00001
|
NM_015271.5(TRIM2):c.2265G>A (p.Val755=)
|
rs1180600606
|
0.00001
|
NM_015271.5(TRIM2):c.2280A>G (p.Gly760=)
|
rs1772273348
|
0.00001
|
NM_015271.5(TRIM2):c.2307C>T (p.Tyr769=)
|
rs1772276216
|
0.00001
|
NM_015271.5(TRIM2):c.282C>T (p.Ser94=)
|
rs1190110289
|
0.00001
|
NM_015271.5(TRIM2):c.291C>T (p.Pro97=)
|
rs370159648
|
0.00001
|
NM_015271.5(TRIM2):c.306C>T (p.Ala102=)
|
rs772795087
|
0.00001
|
NM_015271.5(TRIM2):c.309G>A (p.Ala103=)
|
rs1757938373
|
0.00001
|
NM_015271.5(TRIM2):c.345C>T (p.Asp115=)
|
rs536693739
|
0.00001
|
NM_015271.5(TRIM2):c.390C>T (p.Ile130=)
|
rs1387805976
|
0.00001
|
NM_015271.5(TRIM2):c.408T>C (p.Ala136=)
|
rs762777040
|
0.00001
|
NM_015271.5(TRIM2):c.450G>A (p.Gly150=)
|
rs116331959
|
0.00001
|
NM_015271.5(TRIM2):c.453+8G>A
|
rs764734635
|
0.00001
|
NM_015271.5(TRIM2):c.454-6C>T
|
rs1033464128
|
0.00001
|
NM_015271.5(TRIM2):c.510G>A (p.Glu170=)
|
rs765913100
|
0.00001
|
NM_015271.5(TRIM2):c.605+10C>A
|
rs891133657
|
0.00001
|
NM_015271.5(TRIM2):c.609C>T (p.Leu203=)
|
rs369532223
|
0.00001
|
NM_015271.5(TRIM2):c.786+10G>A
|
rs1268924136
|
0.00001
|
NM_015271.5(TRIM2):c.786+9A>G
|
rs893596283
|
0.00001
|
NM_015271.5(TRIM2):c.787-14C>T
|
rs753233706
|
0.00001
|
NM_015271.5(TRIM2):c.787-4G>T
|
rs779323461
|
0.00001
|
NM_015271.5(TRIM2):c.825G>A (p.Gln275=)
|
rs1348132011
|
0.00001
|
NM_015271.5(TRIM2):c.837G>A (p.Lys279=)
|
rs375609689
|
0.00001
|
NM_015271.5(TRIM2):c.885C>T (p.Thr295=)
|
rs763610177
|
0.00001
|
NM_015271.5(TRIM2):c.996C>T (p.Thr332=)
|
rs776346792
|
0.00001
|
NM_021625.5(TRPV4):c.1002C>T (p.Asn334=)
|
rs1034780415
|
0.00001
|
NM_021625.5(TRPV4):c.1008T>G (p.Arg336=)
|
rs746475296
|
0.00001
|
NM_021625.5(TRPV4):c.1053C>G (p.Leu351=)
|
rs1890580285
|
0.00001
|
NM_021625.5(TRPV4):c.1134C>T (p.Ala378=)
|
rs375468689
|
0.00001
|
NM_021625.5(TRPV4):c.1152+11G>A
|
rs763116011
|
0.00001
|
NM_021625.5(TRPV4):c.1153-16C>T
|
rs371581388
|
0.00001
|
NM_021625.5(TRPV4):c.1266C>G (p.Ser422=)
|
rs1479898285
|
0.00001
|
NM_021625.5(TRPV4):c.1269C>T (p.Ser423=)
|
rs1222875216
|
0.00001
|
NM_021625.5(TRPV4):c.1333-20G>A
|
rs538807931
|
0.00001
|
NM_021625.5(TRPV4):c.1416C>T (p.Tyr472=)
|
rs1890255190
|
0.00001
|
NM_021625.5(TRPV4):c.1425G>A (p.Val475=)
|
rs1399246781
|
0.00001
|
NM_021625.5(TRPV4):c.1458T>C (p.Thr486=)
|
rs979616754
|
0.00001
|
NM_021625.5(TRPV4):c.1479G>A (p.Pro493=)
|
rs1337838267
|
0.00001
|
NM_021625.5(TRPV4):c.1509C>T (p.Arg503=)
|
rs892473691
|
0.00001
|
NM_021625.5(TRPV4):c.1563G>A (p.Gly521=)
|
rs750906932
|
0.00001
|
NM_021625.5(TRPV4):c.1584+16C>G
|
rs748046273
|
0.00001
|
NM_021625.5(TRPV4):c.1584+17C>T
|
rs1272331727
|
0.00001
|
NM_021625.5(TRPV4):c.1584+1G>A
|
rs775922797
|
0.00001
|
NM_021625.5(TRPV4):c.15C>T (p.Ser5=)
|
rs751824781
|
0.00001
|
NM_021625.5(TRPV4):c.1608A>G (p.Lys536=)
|
rs1438689509
|
0.00001
|
NM_021625.5(TRPV4):c.1626T>C (p.Ser542=)
|
rs745522429
|
0.00001
|
NM_021625.5(TRPV4):c.1658+10G>A
|
rs1890171906
|
0.00001
|
NM_021625.5(TRPV4):c.1683C>T (p.Ile561=)
|
rs780088701
|
0.00001
|
NM_021625.5(TRPV4):c.1773C>T (p.Tyr591=)
|
rs1890123640
|
0.00001
|
NM_021625.5(TRPV4):c.180A>G (p.Pro60=)
|
rs1192052152
|
0.00001
|
NM_021625.5(TRPV4):c.1818C>T (p.Ile606=)
|
rs780184323
|
0.00001
|
NM_021625.5(TRPV4):c.1824+14G>A
|
rs1019790413
|
0.00001
|
NM_021625.5(TRPV4):c.1825-12T>G
|
rs957764571
|
0.00001
|
NM_021625.5(TRPV4):c.1825-5T>C
|
rs201531602
|
0.00001
|
NM_021625.5(TRPV4):c.1857C>T (p.Leu619=)
|
rs781048658
|
0.00001
|
NM_021625.5(TRPV4):c.1891+7T>C
|
rs761560716
|
0.00001
|
NM_021625.5(TRPV4):c.1914G>A (p.Pro638=)
|
rs372476984
|
0.00001
|
NM_021625.5(TRPV4):c.1941G>A (p.Glu647=)
|
rs773527895
|
0.00001
|
NM_021625.5(TRPV4):c.195A>G (p.Pro65=)
|
rs1891742510
|
0.00001
|
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=)
|
rs1889847260
|
0.00001
|
NM_021625.5(TRPV4):c.2013G>A (p.Leu671=)
|
rs753041811
|
0.00001
|
NM_021625.5(TRPV4):c.2076C>T (p.Pro692=)
|
rs769988861
|
0.00001
|
NM_021625.5(TRPV4):c.2088C>T (p.Ile696=)
|
rs367846257
|
0.00001
|
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=)
|
rs774321681
|
0.00001
|
NM_021625.5(TRPV4):c.2133C>A (p.Leu711=)
|
rs752352703
|
0.00001
|
NM_021625.5(TRPV4):c.2136C>T (p.Asn712=)
|
rs959967236
|
0.00001
|
NM_021625.5(TRPV4):c.2142C>T (p.Leu714=)
|
rs751939888
|
0.00001
|
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=)
|
rs150719390
|
0.00001
|
NM_021625.5(TRPV4):c.2163A>G (p.Thr721=)
|
rs750457141
|
0.00001
|
NM_021625.5(TRPV4):c.2193C>T (p.His731=)
|
rs767397092
|
0.00001
|
NM_021625.5(TRPV4):c.2208+14G>A
|
rs770836806
|
0.00001
|
NM_021625.5(TRPV4):c.2226G>A (p.Leu742=)
|
rs769329467
|
0.00001
|
NM_021625.5(TRPV4):c.2238C>T (p.Arg746=)
|
rs768237019
|
0.00001
|
NM_021625.5(TRPV4):c.2244C>T (p.Phe748=)
|
rs1340974810
|
0.00001
|
NM_021625.5(TRPV4):c.228C>T (p.Arg76=)
|
rs756080811
|
0.00001
|
NM_021625.5(TRPV4):c.2295C>G (p.Gly765=)
|
rs753038628
|
0.00001
|
NM_021625.5(TRPV4):c.2336+8T>C
|
rs1331783373
|
0.00001
|
NM_021625.5(TRPV4):c.2337-6T>C
|
rs774556290
|
0.00001
|
NM_021625.5(TRPV4):c.2349G>A (p.Val783=)
|
rs778478432
|
0.00001
|
NM_021625.5(TRPV4):c.2391G>A (p.Glu797=)
|
rs781358829
|
0.00001
|
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=)
|
rs545589086
|
0.00001
|
NM_021625.5(TRPV4):c.2454C>G (p.Arg818=)
|
rs1238590299
|
0.00001
|
NM_021625.5(TRPV4):c.2458+11G>A
|
rs780193230
|
0.00001
|
NM_021625.5(TRPV4):c.2458+15G>A
|
rs372913114
|
0.00001
|
NM_021625.5(TRPV4):c.2458+20C>T
|
rs754572256
|
0.00001
|
NM_021625.5(TRPV4):c.2459-20C>G
|
rs1237103634
|
0.00001
|
NM_021625.5(TRPV4):c.2459-8C>T
|
rs967681987
|
0.00001
|
NM_021625.5(TRPV4):c.2496G>C (p.Leu832=)
|
rs374298483
|
0.00001
|
NM_021625.5(TRPV4):c.249C>T (p.Ile83=)
|
rs759183450
|
0.00001
|
NM_021625.5(TRPV4):c.2526G>A (p.Val842=)
|
rs1889487868
|
0.00001
|
NM_021625.5(TRPV4):c.2550C>T (p.Asn850=)
|
rs571407723
|
0.00001
|
NM_021625.5(TRPV4):c.282G>A (p.Ser94=)
|
rs1215886840
|
0.00001
|
NM_021625.5(TRPV4):c.300G>A (p.Lys100=)
|
rs370135765
|
0.00001
|
NM_021625.5(TRPV4):c.30G>A (p.Ala10=)
|
rs746278512
|
0.00001
|
NM_021625.5(TRPV4):c.330C>T (p.Tyr110=)
|
rs777176504
|
0.00001
|
NM_021625.5(TRPV4):c.351C>T (p.Ser117=)
|
rs199963499
|
0.00001
|
NM_021625.5(TRPV4):c.386+14G>A
|
rs1327605836
|
0.00001
|
NM_021625.5(TRPV4):c.386+15C>G
|
rs754513686
|
0.00001
|
NM_021625.5(TRPV4):c.387-17C>T
|
rs1214680066
|
0.00001
|
NM_021625.5(TRPV4):c.393G>A (p.Gln131=)
|
rs754924433
|
0.00001
|
NM_021625.5(TRPV4):c.477C>G (p.Ser159=)
|
rs905858151
|
0.00001
|
NM_021625.5(TRPV4):c.495C>T (p.Asp165=)
|
rs199748756
|
0.00001
|
NM_021625.5(TRPV4):c.507G>T (p.Leu169=)
|
rs753141319
|
0.00001
|
NM_021625.5(TRPV4):c.528C>T (p.His176=)
|
rs1296979074
|
0.00001
|
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys)
|
rs751647405
|
0.00001
|
NM_021625.5(TRPV4):c.559+10C>A
|
rs1429481482
|
0.00001
|
NM_021625.5(TRPV4):c.560-12C>G
|
rs752125058
|
0.00001
|
NM_021625.5(TRPV4):c.561G>A (p.Glu187=)
|
rs1190778746
|
0.00001
|
NM_021625.5(TRPV4):c.621C>T (p.Asn207=)
|
rs777168770
|
0.00001
|
NM_021625.5(TRPV4):c.624C>T (p.Asp208=)
|
rs372000524
|
0.00001
|
NM_021625.5(TRPV4):c.630C>T (p.Ile210=)
|
rs755447747
|
0.00001
|
NM_021625.5(TRPV4):c.648C>T (p.Ile216=)
|
rs201254881
|
0.00001
|
NM_021625.5(TRPV4):c.660C>T (p.Thr220=)
|
rs139983004
|
0.00001
|
NM_021625.5(TRPV4):c.687G>A (p.Ser229=)
|
rs545660001
|
0.00001
|
NM_021625.5(TRPV4):c.690C>T (p.Pro230=)
|
rs747822070
|
0.00001
|
NM_021625.5(TRPV4):c.6G>A (p.Ala2=)
|
rs1392798743
|
0.00001
|
NM_021625.5(TRPV4):c.713-16C>T
|
rs777854437
|
0.00001
|
NM_021625.5(TRPV4):c.726G>C (p.Leu242=)
|
rs1192938006
|
0.00001
|
NM_021625.5(TRPV4):c.759C>T (p.Tyr253=)
|
rs370318363
|
0.00001
|
NM_021625.5(TRPV4):c.792C>A (p.Val264=)
|
rs867185488
|
0.00001
|
NM_021625.5(TRPV4):c.798C>T (p.Ala266=)
|
rs1204460941
|
0.00001
|
NM_021625.5(TRPV4):c.853+14T>C
|
rs1226363562
|
0.00001
|
NM_021625.5(TRPV4):c.853+17T>G
|
rs757137288
|
0.00001
|
NM_021625.5(TRPV4):c.855G>T (p.Gly285=)
|
rs879253959
|
0.00001
|
NM_021625.5(TRPV4):c.910C>T (p.Leu304=)
|
rs1419012591
|
0.00001
|
NM_021625.5(TRPV4):c.973C>T (p.Leu325=)
|
rs772372287
|
0.00001
|
NM_030973.4(MED25):c.1047T>C (p.Thr349=)
|
rs1256377019
|
0.00001
|
NM_030973.4(MED25):c.1053C>G (p.Ala351=)
|
rs760698791
|
0.00001
|
NM_030973.4(MED25):c.1077G>A (p.Thr359=)
|
rs978368787
|
0.00001
|
NM_030973.4(MED25):c.1080A>C (p.Ala360=)
|
rs1378976996
|
0.00001
|
NM_030973.4(MED25):c.1102-10C>T
|
rs775817056
|
0.00001
|
NM_030973.4(MED25):c.1102-13T>G
|
rs374108763
|
0.00001
|
NM_030973.4(MED25):c.1102-9C>T
|
rs747438443
|
0.00001
|
NM_030973.4(MED25):c.1128G>A (p.Val376=)
|
rs763665593
|
0.00001
|
NM_030973.4(MED25):c.1131C>T (p.Ser377=)
|
rs763278432
|
0.00001
|
NM_030973.4(MED25):c.1167C>T (p.Leu389=)
|
rs992676211
|
0.00001
|
NM_030973.4(MED25):c.1209C>T (p.Ser403=)
|
rs954895925
|
0.00001
|
NM_030973.4(MED25):c.1230+12G>C
|
rs771250429
|
0.00001
|
NM_030973.4(MED25):c.1230+20A>G
|
rs199770232
|
0.00001
|
NM_030973.4(MED25):c.1230+7G>T
|
rs1412475364
|
0.00001
|
NM_030973.4(MED25):c.123C>T (p.Leu41=)
|
rs771040258
|
0.00001
|
NM_030973.4(MED25):c.1263C>G (p.Thr421=)
|
rs529873708
|
0.00001
|
NM_030973.4(MED25):c.1316+14_1316+15del
|
rs1411648997
|
0.00001
|
NM_030973.4(MED25):c.1317-19C>T
|
rs912091485
|
0.00001
|
NM_030973.4(MED25):c.134+17C>T
|
rs761372705
|
0.00001
|
NM_030973.4(MED25):c.135-14T>C
|
rs765934196
|
0.00001
|
NM_030973.4(MED25):c.135-17A>G
|
rs993459564
|
0.00001
|
NM_030973.4(MED25):c.135-4A>G
|
rs765245928
|
0.00001
|
NM_030973.4(MED25):c.135-9C>T
|
rs764466098
|
0.00001
|
NM_030973.4(MED25):c.1374+10G>A
|
rs768381941
|
0.00001
|
NM_030973.4(MED25):c.1375-20G>A
|
rs755187047
|
0.00001
|
NM_030973.4(MED25):c.1375-4G>A
|
rs372057910
|
0.00001
|
NM_030973.4(MED25):c.1375-5C>T
|
rs368189393
|
0.00001
|
NM_030973.4(MED25):c.1416G>A (p.Gln472=)
|
rs1310953928
|
0.00001
|
NM_030973.4(MED25):c.1437C>T (p.Asp479=)
|
rs1484444238
|
0.00001
|
NM_030973.4(MED25):c.1476C>T (p.Asn492=)
|
rs750836603
|
0.00001
|
NM_030973.4(MED25):c.1482+16G>A
|
rs781344903
|
0.00001
|
NM_030973.4(MED25):c.1527C>T (p.Arg509=)
|
rs756350936
|
0.00001
|
NM_030973.4(MED25):c.1584C>T (p.Tyr528=)
|
rs776192919
|
0.00001
|
NM_030973.4(MED25):c.1599C>T (p.Phe533=)
|
rs760050487
|
0.00001
|
NM_030973.4(MED25):c.1675-18C>T
|
rs2074089100
|
0.00001
|
NM_030973.4(MED25):c.1675-4G>A
|
rs1202670954
|
0.00001
|
NM_030973.4(MED25):c.1746+10G>A
|
rs777447509
|
0.00001
|
NM_030973.4(MED25):c.1746+18G>A
|
rs772452043
|
0.00001
|
NM_030973.4(MED25):c.1747-14dup
|
rs2074091413
|
0.00001
|
NM_030973.4(MED25):c.1747-15G>C
|
rs1253524565
|
0.00001
|
NM_030973.4(MED25):c.1747-18del
|
rs1568625492
|
0.00001
|
NM_030973.4(MED25):c.1806G>A (p.Thr602=)
|
rs760140749
|
0.00001
|
NM_030973.4(MED25):c.181-20T>C
|
rs768378185
|
0.00001
|
NM_030973.4(MED25):c.181-9C>T
|
rs777821434
|
0.00001
|
NM_030973.4(MED25):c.1824A>G (p.Gln608=)
|
rs756851712
|
0.00001
|
NM_030973.4(MED25):c.1899C>T (p.Pro633=)
|
rs1225715903
|
0.00001
|
NM_030973.4(MED25):c.189G>T (p.Gly63=)
|
rs770307133
|
0.00001
|
NM_030973.4(MED25):c.192C>A (p.Thr64=)
|
rs2073963672
|
0.00001
|
NM_030973.4(MED25):c.1959A>G (p.Pro653=)
|
rs757384751
|
0.00001
|
NM_030973.4(MED25):c.1965+16G>T
|
rs1005068403
|
0.00001
|
NM_030973.4(MED25):c.1968G>A (p.Pro656=)
|
rs370950491
|
0.00001
|
NM_030973.4(MED25):c.1971G>A (p.Gln657=)
|
rs746754098
|
0.00001
|
NM_030973.4(MED25):c.2043G>A (p.Pro681=)
|
rs762374581
|
0.00001
|
NM_030973.4(MED25):c.2071T>C (p.Leu691=)
|
rs75970529
|
0.00001
|
NM_030973.4(MED25):c.2115C>T (p.Pro705=)
|
rs542955462
|
0.00001
|
NM_030973.4(MED25):c.2226C>T (p.Ile742=)
|
rs921978271
|
0.00001
|
NM_030973.4(MED25):c.255C>T (p.His85=)
|
rs1009581878
|
0.00001
|
NM_030973.4(MED25):c.306-6C>T
|
rs780763986
|
0.00001
|
NM_030973.4(MED25):c.339C>T (p.Leu113=)
|
rs772212895
|
0.00001
|
NM_030973.4(MED25):c.36G>C (p.Gly12=)
|
rs774623083
|
0.00001
|
NM_030973.4(MED25):c.384C>T (p.Phe128=)
|
rs1204577575
|
0.00001
|
NM_030973.4(MED25):c.432C>A (p.Leu144=)
|
rs150534771
|
0.00001
|
NM_030973.4(MED25):c.447C>T (p.Pro149=)
|
rs543246660
|
0.00001
|
NM_030973.4(MED25):c.456G>A (p.Leu152=)
|
rs1457594431
|
0.00001
|
NM_030973.4(MED25):c.480G>A (p.Thr160=)
|
rs753591952
|
0.00001
|
NM_030973.4(MED25):c.526-11C>T
|
rs1318354878
|
0.00001
|
NM_030973.4(MED25):c.526-16G>A
|
rs756139455
|
0.00001
|
NM_030973.4(MED25):c.526-4A>G
|
rs1302269788
|
0.00001
|
NM_030973.4(MED25):c.651G>A (p.Pro217=)
|
rs532875863
|
0.00001
|
NM_030973.4(MED25):c.688+20C>T
|
rs763013887
|
0.00001
|
NM_030973.4(MED25):c.689-5C>T
|
rs1365007303
|
0.00001
|
NM_030973.4(MED25):c.705C>G (p.Ala235=)
|
rs1042515250
|
0.00001
|
NM_030973.4(MED25):c.774A>G (p.Ser258=)
|
rs1242278110
|
0.00001
|
NM_030973.4(MED25):c.801C>T (p.Pro267=)
|
rs779737748
|
0.00001
|
NM_030973.4(MED25):c.804C>T (p.Val268=)
|
rs751198441
|
0.00001
|
NM_030973.4(MED25):c.819+19A>G
|
rs943088398
|
0.00001
|
NM_030973.4(MED25):c.820-11T>G
|
rs780010072
|
0.00001
|
NM_030973.4(MED25):c.820-14C>G
|
rs1252422114
|
0.00001
|
NM_030973.4(MED25):c.867G>A (p.Val289=)
|
rs202119489
|
0.00001
|
NM_030973.4(MED25):c.908-17C>T
|
rs778037401
|
0.00001
|
NM_030973.4(MED25):c.912G>A (p.Ser304=)
|
rs1407395842
|
0.00001
|
NM_030973.4(MED25):c.915C>A (p.Pro305=)
|
rs745821423
|
0.00001
|
NM_030973.4(MED25):c.954C>T (p.Pro318=)
|
rs554447029
|
0.00001
|
NM_030973.4(MED25):c.9C>T (p.Pro3=)
|
rs1362017240
|
0.00001
|
NM_170707.4(LMNA):c.1011G>C (p.Leu337=)
|
rs753179748
|
0.00001
|
NM_170707.4(LMNA):c.1027C>A (p.Arg343=)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1089G>A (p.Leu363=)
|
rs2527992387
|
0.00001
|
NM_170707.4(LMNA):c.1092C>T (p.Asp364=)
|
rs776589077
|
0.00001
|
NM_170707.4(LMNA):c.1138T>C (p.Leu380=)
|
rs1215331296
|
0.00001
|
NM_170707.4(LMNA):c.1155G>A (p.Glu385=)
|
rs878855232
|
0.00001
|
NM_170707.4(LMNA):c.1157+12A>G
|
rs767690389
|
0.00001
|
NM_170707.4(LMNA):c.1157+15C>T
|
rs761166147
|
0.00001
|
NM_170707.4(LMNA):c.1157+19G>A
|
rs757715731
|
0.00001
|
NM_170707.4(LMNA):c.1157+22G>A
|
rs1327614687
|
0.00001
|
NM_170707.4(LMNA):c.1157+46C>T
|
rs375064807
|
0.00001
|
NM_170707.4(LMNA):c.1158-19T>G
|
rs1396003520
|
0.00001
|
NM_170707.4(LMNA):c.1167G>A (p.Leu389=)
|
rs750919582
|
0.00001
|
NM_170707.4(LMNA):c.1173C>T (p.Pro391=)
|
rs1553265807
|
0.00001
|
NM_170707.4(LMNA):c.1182C>T (p.Thr394=)
|
rs1409406468
|
0.00001
|
NM_170707.4(LMNA):c.1190G>A (p.Arg397His)
|
rs747952058
|
0.00001
|
NM_170707.4(LMNA):c.1200C>T (p.Gly400=)
|
rs770727928
|
0.00001
|
NM_170707.4(LMNA):c.1239C>A (p.Gly413=)
|
rs754472024
|
0.00001
|
NM_170707.4(LMNA):c.1242C>T (p.Ser414=)
|
rs184946451
|
0.00001
|
NM_170707.4(LMNA):c.1261C>T (p.Leu421=)
|
rs1194745110
|
0.00001
|
NM_170707.4(LMNA):c.12G>A (p.Pro4=)
|
rs369823958
|
0.00001
|
NM_170707.4(LMNA):c.1323C>T (p.Ala441=)
|
rs140194535
|
0.00001
|
NM_170707.4(LMNA):c.1380+14C>T
|
rs924435877
|
0.00001
|
NM_170707.4(LMNA):c.1380+8C>T
|
rs770058244
|
0.00001
|
NM_170707.4(LMNA):c.1381-4G>T
|
rs752880523
|
0.00001
|
NM_170707.4(LMNA):c.1389C>T (p.Ser463=)
|
rs1433379020
|
0.00001
|
NM_170707.4(LMNA):c.1413C>G (p.Arg471=)
|
rs1572365626
|
0.00001
|
NM_170707.4(LMNA):c.147G>A (p.Val49=)
|
rs376196924
|
0.00001
|
NM_170707.4(LMNA):c.1488+15G>A
|
rs371380638
|
0.00001
|
NM_170707.4(LMNA):c.1521C>T (p.Ser507=)
|
rs1279083468
|
0.00001
|
NM_170707.4(LMNA):c.1539G>A (p.Val513=)
|
rs2102895431
|
0.00001
|
NM_170707.4(LMNA):c.153G>T (p.Ser51=)
|
rs751886390
|
0.00001
|
NM_170707.4(LMNA):c.1578G>T (p.Leu526=)
|
rs1205674172
|
0.00001
|
NM_170707.4(LMNA):c.1590C>T (p.Leu530=)
|
rs747338820
|
0.00001
|
NM_170707.4(LMNA):c.1605G>A (p.Gly535=)
|
rs769398087
|
0.00001
|
NM_170707.4(LMNA):c.1608+17C>T
|
rs759375162
|
0.00001
|
NM_170707.4(LMNA):c.1609-12T>C
|
rs267607582
|
0.00001
|
NM_170707.4(LMNA):c.1641G>T (p.Val547=)
|
rs947366975
|
0.00001
|
NM_170707.4(LMNA):c.1662G>A (p.Glu554=)
|
rs201936898
|
0.00001
|
NM_170707.4(LMNA):c.1680C>T (p.Asp560=)
|
rs17847249
|
0.00001
|
NM_170707.4(LMNA):c.1692C>T (p.His564=)
|
rs1215740582
|
0.00001
|
NM_170707.4(LMNA):c.1699-10C>A
|
rs980347866
|
0.00001
|
NM_170707.4(LMNA):c.1699-15T>C
|
rs1234495387
|
0.00001
|
NM_170707.4(LMNA):c.1699-4C>T
|
rs1394491459
|
0.00001
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
NM_170707.4(LMNA):c.1699-9C>T
|
rs776616872
|
0.00001
|
NM_170707.4(LMNA):c.1728C>T (p.Pro576=)
|
rs767783294
|
0.00001
|
NM_170707.4(LMNA):c.1731T>C (p.Ala577=)
|
rs776066211
|
0.00001
|
NM_170707.4(LMNA):c.1764C>T (p.Cys588=)
|
rs759016336
|
0.00001
|
NM_170707.4(LMNA):c.1773C>T (p.Cys591=)
|
rs397517897
|
0.00001
|
NM_170707.4(LMNA):c.1782T>C (p.Pro594=)
|
rs1240036524
|
0.00001
|
NM_170707.4(LMNA):c.1785C>T (p.Ala595=)
|
rs748139390
|
0.00001
|
NM_170707.4(LMNA):c.1824C>A (p.Gly608=)
|
rs58596362
|
0.00001
|
NM_170707.4(LMNA):c.1863G>A (p.Thr621=)
|
rs749999967
|
0.00001
|
NM_170707.4(LMNA):c.1890G>A (p.Gly630=)
|
rs770389147
|
0.00001
|
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser)
|
rs752598065
|
0.00001
|
NM_170707.4(LMNA):c.1941C>T (p.Leu647=)
|
rs984562109
|
0.00001
|
NM_170707.4(LMNA):c.1969-11T>C
|
rs1651904179
|
0.00001
|
NM_170707.4(LMNA):c.1969-4T>C
|
rs751715969
|
0.00001
|
NM_170707.4(LMNA):c.207G>A (p.Val69=)
|
rs886038801
|
0.00001
|
NM_170707.4(LMNA):c.240C>T (p.Ala80=)
|
rs780194620
|
0.00001
|
NM_170707.4(LMNA):c.312G>C (p.Leu104=)
|
rs1185109676
|
0.00001
|
NM_170707.4(LMNA):c.339T>C (p.Phe113=)
|
rs759878335
|
0.00001
|
NM_170707.4(LMNA):c.346C>T (p.Leu116=)
|
rs876657491
|
0.00001
|
NM_170707.4(LMNA):c.356+18G>T
|
rs764535819
|
0.00001
|
NM_170707.4(LMNA):c.357-13C>A
|
rs1264489096
|
0.00001
|
NM_170707.4(LMNA):c.357-18C>G
|
rs1248596288
|
0.00001
|
NM_170707.4(LMNA):c.357-19T>C
|
rs757689089
|
0.00001
|
NM_170707.4(LMNA):c.366G>A (p.Lys122=)
|
rs1650968214
|
0.00001
|
NM_170707.4(LMNA):c.369G>A (p.Lys123=)
|
rs367938270
|
0.00001
|
NM_170707.4(LMNA):c.372G>A (p.Glu124=)
|
rs1572352924
|
0.00001
|
NM_170707.4(LMNA):c.409C>T (p.Leu137=)
|
rs747998566
|
0.00001
|
NM_170707.4(LMNA):c.42G>A (p.Ala14=)
|
rs777460187
|
0.00001
|
NM_170707.4(LMNA):c.477G>A (p.Glu159=)
|
rs1424758064
|
0.00001
|
NM_170707.4(LMNA):c.480C>A (p.Gly160=)
|
rs758848135
|
0.00001
|
NM_170707.4(LMNA):c.498G>A (p.Arg166=)
|
rs886043189
|
0.00001
|
NM_170707.4(LMNA):c.513+11C>T
|
rs1331483345
|
0.00001
|
NM_170707.4(LMNA):c.513+12C>A
|
rs756758566
|
0.00001
|
NM_170707.4(LMNA):c.540G>A (p.Lys180=)
|
rs1437725392
|
0.00001
|
NM_170707.4(LMNA):c.564G>A (p.Leu188=)
|
rs750762996
|
0.00001
|
NM_170707.4(LMNA):c.573G>A (p.Val191=)
|
rs754525930
|
0.00001
|
NM_170707.4(LMNA):c.591G>A (p.Leu197=)
|
rs886044049
|
0.00001
|
NM_170707.4(LMNA):c.606G>A (p.Glu202=)
|
rs963378138
|
0.00001
|
NM_170707.4(LMNA):c.639+11T>C
|
rs2527968964
|
0.00001
|
NM_170707.4(LMNA):c.640-11A>C
|
rs727504932
|
0.00001
|
NM_170707.4(LMNA):c.640-8C>G
|
rs1265858848
|
0.00001
|
NM_170707.4(LMNA):c.643C>T (p.Leu215=)
|
rs397517905
|
0.00001
|
NM_170707.4(LMNA):c.645G>C (p.Leu215=)
|
rs80356808
|
0.00001
|
NM_170707.4(LMNA):c.678G>A (p.Leu226=)
|
rs964377328
|
0.00001
|
NM_170707.4(LMNA):c.681G>A (p.Val227=)
|
rs769896881
|
0.00001
|
NM_170707.4(LMNA):c.72C>T (p.Thr24=)
|
rs1572331957
|
0.00001
|
NM_170707.4(LMNA):c.732G>A (p.Ala244=)
|
rs756952925
|
0.00001
|
NM_170707.4(LMNA):c.756T>C (p.His252=)
|
rs956065720
|
0.00001
|
NM_170707.4(LMNA):c.771G>A (p.Glu257=)
|
rs1471649557
|
0.00001
|
NM_170707.4(LMNA):c.810+17G>A
|
rs771192755
|
0.00001
|
NM_170707.4(LMNA):c.811-8C>T
|
rs780929524
|
0.00001
|
NM_170707.4(LMNA):c.822C>G (p.Ala274=)
|
rs1572360747
|
0.00001
|
NM_170707.4(LMNA):c.936+7C>T
|
rs757401091
|
0.00001
|
NM_170707.4(LMNA):c.937-14C>T
|
rs2102886404
|
0.00001
|
NM_170707.4(LMNA):c.93G>A (p.Glu31=)
|
rs878855235
|
0.00001
|
NM_170707.4(LMNA):c.954G>A (p.Ala318=)
|
rs397517914
|
0.00001
|
NM_170707.4(LMNA):c.966C>T (p.Asp322=)
|
rs1003803799
|
0.00001
|
NC_000008.11:g.24956435_24956438delinsAGAA
|
rs1060504999
|
|
NM_000263.4(NAGLU):c.1017T>C (p.Thr339=)
|
rs2143100146
|
|
NM_000263.4(NAGLU):c.1021+11T>A
|
rs2510656847
|
|
NM_000263.4(NAGLU):c.1021+13G>C
|
rs1435743049
|
|
NM_000263.4(NAGLU):c.1021+15T>G
|
rs149434978
|
|
NM_000263.4(NAGLU):c.1021+16G>A
|
rs776803954
|
|
NM_000263.4(NAGLU):c.1021+18G>A
|
|
|
NM_000263.4(NAGLU):c.1022-10C>G
|
rs1314987679
|
|
NM_000263.4(NAGLU):c.1022-13C>G
|
|
|
NM_000263.4(NAGLU):c.1022-17C>G
|
rs1301034113
|
|
NM_000263.4(NAGLU):c.1022-18C>A
|
rs779669670
|
|
NM_000263.4(NAGLU):c.1022-18C>G
|
|
|
NM_000263.4(NAGLU):c.1022-20C>T
|
rs1294766961
|
|
NM_000263.4(NAGLU):c.1022-8G>A
|
rs2092925422
|
|
NM_000263.4(NAGLU):c.1029T>G (p.Thr343=)
|
|
|
NM_000263.4(NAGLU):c.1044G>A (p.Leu348=)
|
rs776863513
|
|
NM_000263.4(NAGLU):c.1044G>T (p.Leu348=)
|
rs776863513
|
|
NM_000263.4(NAGLU):c.1047C>A (p.Leu349=)
|
rs2143107360
|
|
NM_000263.4(NAGLU):c.1086G>C (p.Gly362=)
|
rs754413995
|
|
NM_000263.4(NAGLU):c.1086G>T (p.Gly362=)
|
rs754413995
|
|
NM_000263.4(NAGLU):c.1089C>T (p.Pro363=)
|
rs778956418
|
|
NM_000263.4(NAGLU):c.108G>T (p.Val36=)
|
rs2092906054
|
|
NM_000263.4(NAGLU):c.1095G>A (p.Gln365=)
|
rs754764611
|
|
NM_000263.4(NAGLU):c.1110G>A (p.Leu370=)
|
rs2143107804
|
|
NM_000263.4(NAGLU):c.1116T>C (p.Ala372=)
|
rs1184145784
|
|
NM_000263.4(NAGLU):c.111C>G (p.Ala37=)
|
rs2143075712
|
|
NM_000263.4(NAGLU):c.1122C>A (p.Pro374=)
|
rs780139603
|
|
NM_000263.4(NAGLU):c.1128C>T (p.Gly376=)
|
|
|
NM_000263.4(NAGLU):c.1134C>G (p.Leu378=)
|
rs2510658966
|
|
NM_000263.4(NAGLU):c.1134C>T (p.Leu378=)
|
rs2510658966
|
|
NM_000263.4(NAGLU):c.1137G>A (p.Leu379=)
|
|
|
NM_000263.4(NAGLU):c.1140T>A (p.Val380=)
|
rs2510658988
|
|
NM_000263.4(NAGLU):c.1149G>A (p.Leu383=)
|
rs2143108047
|
|
NM_000263.4(NAGLU):c.115C>T (p.Leu39=)
|
rs2143075772
|
|
NM_000263.4(NAGLU):c.1179C>T (p.Arg393=)
|
rs2510659092
|
|
NM_000263.4(NAGLU):c.1188C>T (p.Ser396=)
|
rs2143108378
|
|
NM_000263.4(NAGLU):c.120G>A (p.Leu40=)
|
rs2143075800
|
|
NM_000263.4(NAGLU):c.120G>T (p.Leu40=)
|
rs2143075800
|
|
NM_000263.4(NAGLU):c.1221G>T (p.Leu407=)
|
rs2510659158
|
|
NM_000263.4(NAGLU):c.1224C>T (p.His408=)
|
rs780376108
|
|
NM_000263.4(NAGLU):c.123G>T (p.Gly41=)
|
rs1170826218
|
|
NM_000263.4(NAGLU):c.1245T>C (p.Gly415=)
|
rs1328307777
|
|
NM_000263.4(NAGLU):c.1254A>G (p.Gly418=)
|
|
|
NM_000263.4(NAGLU):c.1257C>T (p.Ala419=)
|
rs2143108736
|
|
NM_000263.4(NAGLU):c.1263G>A (p.Glu421=)
|
rs2510659200
|
|
NM_000263.4(NAGLU):c.1269G>A (p.Val423=)
|
rs2143108842
|
|
NM_000263.4(NAGLU):c.1287T>G (p.Ala429=)
|
rs2143108984
|
|
NM_000263.4(NAGLU):c.1290C>T (p.Ala430=)
|
rs2143109038
|
|
NM_000263.4(NAGLU):c.1293C>T (p.Arg431=)
|
rs2510659250
|
|
NM_000263.4(NAGLU):c.1296C>T (p.Leu432=)
|
rs930790545
|
|
NM_000263.4(NAGLU):c.1299C>T (p.Phe433=)
|
rs2143109090
|
|
NM_000263.4(NAGLU):c.129C>A (p.Gly43=)
|
rs2510649920
|
|
NM_000263.4(NAGLU):c.12G>A (p.Val4=)
|
rs2510649512
|
|
NM_000263.4(NAGLU):c.1302C>G (p.Pro434=)
|
rs2510659265
|
|
NM_000263.4(NAGLU):c.1305C>T (p.Asn435=)
|
rs1049139446
|
|
NM_000263.4(NAGLU):c.1311C>G (p.Thr437=)
|
rs2092926617
|
|
NM_000263.4(NAGLU):c.1311C>T (p.Thr437=)
|
rs2092926617
|
|
NM_000263.4(NAGLU):c.132C>A (p.Pro44=)
|
rs1489090930
|
|
NM_000263.4(NAGLU):c.132C>G (p.Pro44=)
|
rs1489090930
|
|
NM_000263.4(NAGLU):c.1332C>T (p.Ala444=)
|
rs2143109423
|
|
NM_000263.4(NAGLU):c.1335C>G (p.Pro445=)
|
rs202033889
|
|
NM_000263.4(NAGLU):c.1344C>T (p.Ile448=)
|
rs2092926773
|
|
NM_000263.4(NAGLU):c.1347C>T (p.Ser449=)
|
rs2143109514
|
|
NM_000263.4(NAGLU):c.1359G>A (p.Val453=)
|
rs771329501
|
|
NM_000263.4(NAGLU):c.1359G>T (p.Val453=)
|
rs771329501
|
|
NM_000263.4(NAGLU):c.1371C>T (p.Leu457=)
|
rs1599260897
|
|
NM_000263.4(NAGLU):c.1380G>A (p.Glu460=)
|
rs1439241856
|
|
NM_000263.4(NAGLU):c.1386C>G (p.Gly462=)
|
rs1238922003
|
|
NM_000263.4(NAGLU):c.138C>A (p.Ala46=)
|
rs2143075937
|
|
NM_000263.4(NAGLU):c.1407A>G (p.Pro469=)
|
rs1567893530
|
|
NM_000263.4(NAGLU):c.141C>T (p.Asp47=)
|
rs2143075952
|
|
NM_000263.4(NAGLU):c.1431C>T (p.Ser477=)
|
rs2510659469
|
|
NM_000263.4(NAGLU):c.1437C>A (p.Ala479=)
|
rs752918057
|
|
NM_000263.4(NAGLU):c.1444C>A (p.Arg482=)
|
rs104894596
|
|
NM_000263.4(NAGLU):c.1464G>T (p.Pro488=)
|
|
|
NM_000263.4(NAGLU):c.1470A>G (p.Ala490=)
|
rs2143110660
|
|
NM_000263.4(NAGLU):c.147C>G (p.Ser49=)
|
rs1312501106
|
|
NM_000263.4(NAGLU):c.1488A>C (p.Leu496=)
|
rs752971320
|
|
NM_000263.4(NAGLU):c.1489C>T (p.Leu497=)
|
rs1353058781
|
|
NM_000263.4(NAGLU):c.1491G>C (p.Leu497=)
|
rs2510659683
|
|
NM_000263.4(NAGLU):c.1497G>A (p.Arg499=)
|
rs1325481291
|
|
NM_000263.4(NAGLU):c.1500T>C (p.Ser500=)
|
rs1225039564
|
|
NM_000263.4(NAGLU):c.1506C>T (p.Tyr502=)
|
rs1348547753
|
|
NM_000263.4(NAGLU):c.1509C>T (p.Asn503=)
|
rs781603010
|
|
NM_000263.4(NAGLU):c.1512C>T (p.Cys504=)
|
rs750897125
|
|
NM_000263.4(NAGLU):c.1524C>T (p.Ala508=)
|
rs1435687913
|
|
NM_000263.4(NAGLU):c.1533C>T (p.Gly511=)
|
rs768357311
|
|
NM_000263.4(NAGLU):c.1539T>C (p.Asn513=)
|
rs2143111531
|
|
NM_000263.4(NAGLU):c.153G>C (p.Ser51=)
|
rs2143076082
|
|
NM_000263.4(NAGLU):c.153G>T (p.Ser51=)
|
rs2143076082
|
|
NM_000263.4(NAGLU):c.1542T>C (p.Arg514=)
|
rs2143111572
|
|
NM_000263.4(NAGLU):c.1549C>T (p.Leu517=)
|
rs2510659804
|
|
NM_000263.4(NAGLU):c.1566C>A (p.Ser522=)
|
rs2510659832
|
|
NM_000263.4(NAGLU):c.1569A>G (p.Leu523=)
|
rs2510659838
|
|
NM_000263.4(NAGLU):c.1572G>A (p.Gln524=)
|
rs2510659844
|
|
NM_000263.4(NAGLU):c.15G>A (p.Ala5=)
|
rs2092905675
|
|
NM_000263.4(NAGLU):c.15G>T (p.Ala5=)
|
rs2092905675
|
|
NM_000263.4(NAGLU):c.1614G>A (p.Glu538=)
|
rs2092928338
|
|
NM_000263.4(NAGLU):c.1621C>A (p.Arg541=)
|
rs780527821
|
|
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1623G>C (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1623G>T (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1624C>T (p.Leu542=)
|
rs2143112148
|
|
NM_000263.4(NAGLU):c.1626G>A (p.Leu542=)
|
rs2510659987
|
|
NM_000263.4(NAGLU):c.162C>A (p.Arg54=)
|
|
|
NM_000263.4(NAGLU):c.1632C>A (p.Leu544=)
|
rs2143112209
|
|
NM_000263.4(NAGLU):c.1632C>T (p.Leu544=)
|
rs2143112209
|
|
NM_000263.4(NAGLU):c.1644C>G (p.Pro548=)
|
rs2143112304
|
|
NM_000263.4(NAGLU):c.1644C>T (p.Pro548=)
|
rs2143112304
|
|
NM_000263.4(NAGLU):c.1656C>T (p.Thr552=)
|
rs2143112410
|
|
NM_000263.4(NAGLU):c.165T>C (p.Ala55=)
|
rs2510650026
|
|
NM_000263.4(NAGLU):c.1665C>A (p.Ala555=)
|
rs1217927919
|
|
NM_000263.4(NAGLU):c.1665C>T (p.Ala555=)
|
rs1217927919
|
|
NM_000263.4(NAGLU):c.1680G>C (p.Leu560=)
|
rs766911974
|
|
NM_000263.4(NAGLU):c.1683G>A (p.Leu561=)
|
rs2510660112
|
|
NM_000263.4(NAGLU):c.1686C>T (p.Asp562=)
|
rs2143112704
|
|
NM_000263.4(NAGLU):c.1689C>G (p.Leu563=)
|
|
|
NM_000263.4(NAGLU):c.168G>A (p.Leu56=)
|
|
|
NM_000263.4(NAGLU):c.168G>C (p.Leu56=)
|
rs2092906262
|
|
NM_000263.4(NAGLU):c.1692T>C (p.Thr564=)
|
rs2510660127
|
|
NM_000263.4(NAGLU):c.1695G>T (p.Arg565=)
|
rs2510660138
|
|
NM_000263.4(NAGLU):c.1704G>A (p.Val568=)
|
rs2510660165
|
|
NM_000263.4(NAGLU):c.1707G>A (p.Gln569=)
|
rs2092928747
|
|
NM_000263.4(NAGLU):c.1711C>T (p.Leu571=)
|
rs2510660184
|
|
NM_000263.4(NAGLU):c.1719C>T (p.Ser573=)
|
rs1474571888
|
|
NM_000263.4(NAGLU):c.1725C>T (p.Tyr575=)
|
rs2510660208
|
|
NM_000263.4(NAGLU):c.1764G>A (p.Leu588=)
|
rs2510660261
|
|
NM_000263.4(NAGLU):c.1766C>T (p.Ala589Val)
|
rs775300265
|
|
NM_000263.4(NAGLU):c.1767C>A (p.Ala589=)
|
rs2143113512
|
|
NM_000263.4(NAGLU):c.1767C>T (p.Ala589=)
|
rs2143113512
|
|
NM_000263.4(NAGLU):c.1770C>T (p.Ser590=)
|
rs2143113520
|
|
NM_000263.4(NAGLU):c.1779G>A (p.Arg593=)
|
rs2143113596
|
|
NM_000263.4(NAGLU):c.177G>A (p.Lys59=)
|
rs1288446882
|
|
NM_000263.4(NAGLU):c.1788C>G (p.Gly596=)
|
rs115166595
|
|
NM_000263.4(NAGLU):c.1794G>A (p.Leu598=)
|
rs753170828
|
|
NM_000263.4(NAGLU):c.1797C>T (p.Ala599=)
|
rs146715254
|
|
NM_000263.4(NAGLU):c.1803G>A (p.Glu601=)
|
rs763854864
|
|
NM_000263.4(NAGLU):c.1806G>A (p.Leu602=)
|
rs2143113802
|
|
NM_000263.4(NAGLU):c.180G>C (p.Pro60=)
|
rs1449219265
|
|
NM_000263.4(NAGLU):c.1812G>C (p.Pro604=)
|
rs756855449
|
|
NM_000263.4(NAGLU):c.1815A>G (p.Ala605=)
|
rs2510660414
|
|
NM_000263.4(NAGLU):c.1824G>A (p.Glu608=)
|
rs2510660426
|
|
NM_000263.4(NAGLU):c.1828C>T (p.Leu610=)
|
rs1198292626
|
|
NM_000263.4(NAGLU):c.1833T>G (p.Ala611=)
|
rs2510660447
|
|
NM_000263.4(NAGLU):c.183C>A (p.Gly61=)
|
rs2143076268
|
|
NM_000263.4(NAGLU):c.183C>G (p.Gly61=)
|
rs2143076268
|
|
NM_000263.4(NAGLU):c.1842C>T (p.Ser614=)
|
rs2092929323
|
|
NM_000263.4(NAGLU):c.184T>C (p.Leu62=)
|
rs2510650068
|
|
NM_000263.4(NAGLU):c.1852C>T (p.Leu618=)
|
rs2510660460
|
|
NM_000263.4(NAGLU):c.1857C>T (p.Gly619=)
|
rs2510660469
|
|
NM_000263.4(NAGLU):c.1869G>A (p.Glu623=)
|
rs2510660492
|
|
NM_000263.4(NAGLU):c.1881A>G (p.Ala627=)
|
rs2143114281
|
|
NM_000263.4(NAGLU):c.1890C>G (p.Val630=)
|
rs1281727710
|
|
NM_000263.4(NAGLU):c.1890C>T (p.Val630=)
|
rs1281727710
|
|
NM_000263.4(NAGLU):c.1896G>A (p.Glu632=)
|
rs2143114448
|
|
NM_000263.4(NAGLU):c.18G>A (p.Val6=)
|
rs1599253491
|
|
NM_000263.4(NAGLU):c.1929C>A (p.Arg643=)
|
rs2510660694
|
|
NM_000263.4(NAGLU):c.192C>T (p.Thr64=)
|
rs2510650096
|
|
NM_000263.4(NAGLU):c.1938G>A (p.Leu646=)
|
rs1599262114
|
|
NM_000263.4(NAGLU):c.1942T>C (p.Leu648=)
|
rs2510660717
|
|
NM_000263.4(NAGLU):c.1950G>A (p.Gly650=)
|
rs2092929943
|
|
NM_000263.4(NAGLU):c.1965C>A (p.Ile655=)
|
rs1482682282
|
|
NM_000263.4(NAGLU):c.1966C>T (p.Leu656=)
|
rs2510660793
|
|
NM_000263.4(NAGLU):c.1977C>T (p.Ala659=)
|
rs2510660815
|
|
NM_000263.4(NAGLU):c.1987C>T (p.Leu663=)
|
rs1188518770
|
|
NM_000263.4(NAGLU):c.1998G>A (p.Leu666=)
|
rs1349207240
|
|
NM_000263.4(NAGLU):c.2001G>A (p.Val667=)
|
rs1243919172
|
|
NM_000263.4(NAGLU):c.2004C>A (p.Ala668=)
|
rs1306672947
|
|
NM_000263.4(NAGLU):c.2010C>T (p.Tyr670=)
|
rs2092930191
|
|
NM_000263.4(NAGLU):c.201G>A (p.Leu67=)
|
rs2143076387
|
|
NM_000263.4(NAGLU):c.2022C>T (p.Arg674=)
|
rs2143115704
|
|
NM_000263.4(NAGLU):c.2035C>T (p.Leu679=)
|
|
|
NM_000263.4(NAGLU):c.2043G>T (p.Ala681=)
|
rs115401566
|
|
NM_000263.4(NAGLU):c.2044C>T (p.Leu682=)
|
rs1567894363
|
|
NM_000263.4(NAGLU):c.2046G>A (p.Leu682=)
|
rs2510660938
|
|
NM_000263.4(NAGLU):c.2061C>T (p.Ala687=)
|
rs2510660959
|
|
NM_000263.4(NAGLU):c.2067C>T (p.Gly689=)
|
rs2510660970
|
|
NM_000263.4(NAGLU):c.2070C>T (p.Ile690=)
|
rs2510660973
|
|
NM_000263.4(NAGLU):c.2076C>T (p.Phe692=)
|
rs2092930476
|
|
NM_000263.4(NAGLU):c.2085C>T (p.His695=)
|
rs1038367205
|
|
NM_000263.4(NAGLU):c.2103C>T (p.Val701=)
|
rs2092930566
|
|
NM_000263.4(NAGLU):c.2106C>T (p.Phe702=)
|
rs2092930575
|
|
NM_000263.4(NAGLU):c.2121C>G (p.Ala707=)
|
|
|
NM_000263.4(NAGLU):c.213C>T (p.Gly71=)
|
rs2510650182
|
|
NM_000263.4(NAGLU):c.2145C>T (p.Tyr715=)
|
rs1464733404
|
|
NM_000263.4(NAGLU):c.2154G>A (p.Gln718=)
|
rs749377249
|
|
NM_000263.4(NAGLU):c.2157G>T (p.Pro719=)
|
rs114687267
|
|
NM_000263.4(NAGLU):c.2169T>C (p.Thr723=)
|
rs2143116773
|
|
NM_000263.4(NAGLU):c.219G>A (p.Ala73=)
|
rs2092906518
|
|
NM_000263.4(NAGLU):c.21C>G (p.Ala7=)
|
rs2092905698
|
|
NM_000263.4(NAGLU):c.21C>T (p.Ala7=)
|
rs2092905698
|
|
NM_000263.4(NAGLU):c.2205C>T (p.Tyr735=)
|
rs1310530729
|
|
NM_000263.4(NAGLU):c.2208_2209delinsTG (p.Arg737Gly)
|
rs2092931038
|
|
NM_000263.4(NAGLU):c.2211C>T (p.Arg737=)
|
rs1255253133
|
|
NM_000263.4(NAGLU):c.222C>G (p.Arg74=)
|
rs2143076606
|
|
NM_000263.4(NAGLU):c.225G>T (p.Val75=)
|
rs2092906556
|
|
NM_000263.4(NAGLU):c.234C>T (p.Arg78=)
|
rs2510650283
|
|
NM_000263.4(NAGLU):c.243G>T (p.Thr81=)
|
rs2510650315
|
|
NM_000263.4(NAGLU):c.249G>A (p.Val83=)
|
rs1294936427
|
|
NM_000263.4(NAGLU):c.24G>T (p.Ala8=)
|
rs2143075127
|
|
NM_000263.4(NAGLU):c.252G>A (p.Ala84=)
|
rs2510650351
|
|
NM_000263.4(NAGLU):c.258C>G (p.Ala86=)
|
rs1381587394
|
|
NM_000263.4(NAGLU):c.261G>T (p.Ala87=)
|
rs1452325580
|
|
NM_000263.4(NAGLU):c.265C>T (p.Leu89=)
|
rs2143076945
|
|
NM_000263.4(NAGLU):c.267G>A (p.Leu89=)
|
rs2143076955
|
|
NM_000263.4(NAGLU):c.273C>T (p.Arg91=)
|
rs2143076997
|
|
NM_000263.4(NAGLU):c.27G>A (p.Ala9=)
|
|
|
NM_000263.4(NAGLU):c.27G>T (p.Ala9=)
|
rs1002286212
|
|
NM_000263.4(NAGLU):c.282C>G (p.Arg94=)
|
rs866267579
|
|
NM_000263.4(NAGLU):c.294C>T (p.Gly98=)
|
rs1318421483
|
|
NM_000263.4(NAGLU):c.306C>G (p.Ala102=)
|
rs2092906862
|
|
NM_000263.4(NAGLU):c.306C>T (p.Ala102=)
|
rs2092906862
|
|
NM_000263.4(NAGLU):c.30G>T (p.Val10=)
|
rs1244442641
|
|
NM_000263.4(NAGLU):c.312C>T (p.Ser104=)
|
rs2510650500
|
|
NM_000263.4(NAGLU):c.315C>G (p.Gly105=)
|
rs2143077290
|
|
NM_000263.4(NAGLU):c.318T>G (p.Ser106=)
|
rs2510650520
|
|
NM_000263.4(NAGLU):c.321G>A (p.Gln107=)
|
rs779437712
|
|
NM_000263.4(NAGLU):c.322C>T (p.Leu108=)
|
rs1487167711
|
|
NM_000263.4(NAGLU):c.327C>A (p.Arg109=)
|
rs2143077380
|
|
NM_000263.4(NAGLU):c.327C>T (p.Arg109=)
|
rs2143077380
|
|
NM_000263.4(NAGLU):c.32G>C (p.Gly11Ala)
|
rs1217361905
|
|
NM_000263.4(NAGLU):c.339A>T (p.Pro113=)
|
rs2143077498
|
|
NM_000263.4(NAGLU):c.340C>T (p.Leu114=)
|
rs2143077515
|
|
NM_000263.4(NAGLU):c.342G>A (p.Leu114=)
|
rs748632325
|
|
NM_000263.4(NAGLU):c.345A>G (p.Pro115=)
|
rs2092906994
|
|
NM_000263.4(NAGLU):c.348C>G (p.Ala116=)
|
rs559674042
|
|
NM_000263.4(NAGLU):c.351G>A (p.Val117=)
|
rs1436378685
|
|
NM_000263.4(NAGLU):c.354G>A (p.Pro118=)
|
rs745433070
|
|
NM_000263.4(NAGLU):c.354G>C (p.Pro118=)
|
rs745433070
|
|
NM_000263.4(NAGLU):c.354G>T (p.Pro118=)
|
rs745433070
|
|
NM_000263.4(NAGLU):c.366C>A (p.Thr122=)
|
rs769313280
|
|
NM_000263.4(NAGLU):c.372C>T (p.Ala124=)
|
|
|
NM_000263.4(NAGLU):c.381C>T (p.Asn127=)
|
rs965226394
|
|
NM_000263.4(NAGLU):c.383+10C>G
|
rs1599254060
|
|
NM_000263.4(NAGLU):c.383+10C>T
|
rs1599254060
|
|
NM_000263.4(NAGLU):c.383+11G>A
|
rs2143078004
|
|
NM_000263.4(NAGLU):c.383+13A>G
|
rs2510650687
|
|
NM_000263.4(NAGLU):c.383+14G>A
|
rs760963866
|
|
NM_000263.4(NAGLU):c.383+15C>T
|
rs2510650692
|
|
NM_000263.4(NAGLU):c.383+17T>A
|
rs2510650701
|
|
NM_000263.4(NAGLU):c.383+17del
|
rs2092907246
|
|
NM_000263.4(NAGLU):c.383+20C>A
|
rs1168068741
|
|
NM_000263.4(NAGLU):c.383+7C>G
|
rs768602711
|
|
NM_000263.4(NAGLU):c.383+8C>G
|
rs774221240
|
|
NM_000263.4(NAGLU):c.384-10C>T
|
rs772996063
|
|
NM_000263.4(NAGLU):c.384-11A>G
|
rs2510651980
|
|
NM_000263.4(NAGLU):c.384-12C>A
|
rs570427849
|
|
NM_000263.4(NAGLU):c.384-12C>G
|
|
|
NM_000263.4(NAGLU):c.384-12C>T
|
rs570427849
|
|
NM_000263.4(NAGLU):c.384-15T>A
|
rs2092909390
|
|
NM_000263.4(NAGLU):c.384-18T>C
|
rs2510651969
|
|
NM_000263.4(NAGLU):c.384-19C>T
|
rs2092909360
|
|
NM_000263.4(NAGLU):c.384-4G>A
|
rs763057510
|
|
NM_000263.4(NAGLU):c.384-4G>T
|
rs763057510
|
|
NM_000263.4(NAGLU):c.384-5C>T
|
rs770061369
|
|
NM_000263.4(NAGLU):c.384-8G>T
|
rs746106558
|
|
NM_000263.4(NAGLU):c.384-9T>C
|
rs2510651982
|
|
NM_000263.4(NAGLU):c.390C>G (p.Arg130=)
|
rs2510652019
|
|
NM_000263.4(NAGLU):c.39T>G (p.Leu13=)
|
rs2510649635
|
|
NM_000263.4(NAGLU):c.402T>C (p.Asn134=)
|
rs2510652034
|
|
NM_000263.4(NAGLU):c.444C>T (p.Ala148=)
|
rs758301017
|
|
NM_000263.4(NAGLU):c.459G>A (p.Glu153=)
|
rs746876753
|
|
NM_000263.4(NAGLU):c.465C>T (p.Asp155=)
|
rs2510652195
|
|
NM_000263.4(NAGLU):c.474G>A (p.Ala158=)
|
rs1052714676
|
|
NM_000263.4(NAGLU):c.474G>T (p.Ala158=)
|
rs1052714676
|
|
NM_000263.4(NAGLU):c.483C>T (p.Gly161=)
|
rs2510652212
|
|
NM_000263.4(NAGLU):c.489C>T (p.Asn163=)
|
rs2143082353
|
|
NM_000263.4(NAGLU):c.490C>T (p.Leu164=)
|
rs2092909948
|
|
NM_000263.4(NAGLU):c.496C>T (p.Leu166=)
|
rs2510652230
|
|
NM_000263.4(NAGLU):c.498G>T (p.Leu166=)
|
rs1179039392
|
|
NM_000263.4(NAGLU):c.501C>T (p.Ala167=)
|
|
|
NM_000263.4(NAGLU):c.507C>T (p.Ser169=)
|
rs1378009555
|
|
NM_000263.4(NAGLU):c.516G>A (p.Glu172=)
|
rs2510652253
|
|
NM_000263.4(NAGLU):c.519C>T (p.Ala173=)
|
rs2510652256
|
|
NM_000263.4(NAGLU):c.51G>A (p.Gly17=)
|
rs2143075377
|
|
NM_000263.4(NAGLU):c.531+10C>G
|
rs373999016
|
|
NM_000263.4(NAGLU):c.531+15T>C
|
rs2510652294
|
|
NM_000263.4(NAGLU):c.531+8C>T
|
rs2510652290
|
|
NM_000263.4(NAGLU):c.531+9C>G
|
rs2143082621
|
|
NM_000263.4(NAGLU):c.532-11T>C
|
rs977518446
|
|
NM_000263.4(NAGLU):c.532-14C>T
|
rs2092912397
|
|
NM_000263.4(NAGLU):c.532-19G>T
|
rs2092912385
|
|
NM_000263.4(NAGLU):c.532-9C>T
|
|
|
NM_000263.4(NAGLU):c.537C>T (p.Tyr179=)
|
rs773878482
|
|
NM_000263.4(NAGLU):c.543C>G (p.Ala181=)
|
rs2143086433
|
|
NM_000263.4(NAGLU):c.543C>T (p.Ala181=)
|
rs2143086433
|
|
NM_000263.4(NAGLU):c.549C>G (p.Gly183=)
|
rs2510653169
|
|
NM_000263.4(NAGLU):c.549C>T (p.Gly183=)
|
rs2510653169
|
|
NM_000263.4(NAGLU):c.54C>A (p.Ala18=)
|
rs1276497226
|
|
NM_000263.4(NAGLU):c.54C>G (p.Ala18=)
|
rs1276497226
|
|
NM_000263.4(NAGLU):c.54C>T (p.Ala18=)
|
rs1276497226
|
|
NM_000263.4(NAGLU):c.555C>G (p.Thr185=)
|
rs918115221
|
|
NM_000263.4(NAGLU):c.576C>T (p.Phe192=)
|
rs765009822
|
|
NM_000263.4(NAGLU):c.57G>A (p.Gly19=)
|
rs2143075427
|
|
NM_000263.4(NAGLU):c.588T>G (p.Pro196=)
|
rs1361122249
|
|
NM_000263.4(NAGLU):c.594C>T (p.Phe198=)
|
rs1302694247
|
|
NM_000263.4(NAGLU):c.607C>A (p.Arg203=)
|
rs1279412522
|
|
NM_000263.4(NAGLU):c.60C>G (p.Gly20=)
|
|
|
NM_000263.4(NAGLU):c.60C>T (p.Gly20=)
|
rs1421818277
|
|
NM_000263.4(NAGLU):c.615C>T (p.Gly205=)
|
rs2510653257
|
|
NM_000263.4(NAGLU):c.618C>T (p.Asn206=)
|
rs2143086786
|
|
NM_000263.4(NAGLU):c.619C>T (p.Leu207=)
|
rs1052395549
|
|
NM_000263.4(NAGLU):c.621G>A (p.Leu207=)
|
rs2510653269
|
|
NM_000263.4(NAGLU):c.642G>A (p.Leu214=)
|
rs1555621747
|
|
NM_000263.4(NAGLU):c.648C>A (p.Pro216=)
|
rs755855749
|
|
NM_000263.4(NAGLU):c.657C>T (p.His219=)
|
rs779235263
|
|
NM_000263.4(NAGLU):c.660C>A (p.Ile220=)
|
rs2510653361
|
|
NM_000263.4(NAGLU):c.663G>A (p.Lys221=)
|
rs2510653373
|
|
NM_000263.4(NAGLU):c.672C>T (p.Tyr224=)
|
rs2510653387
|
|
NM_000263.4(NAGLU):c.678+10T>C
|
rs2510653413
|
|
NM_000263.4(NAGLU):c.678+17G>A
|
rs2092913116
|
|
NM_000263.4(NAGLU):c.678+7G>C
|
rs2510653406
|
|
NM_000263.4(NAGLU):c.678+8G>A
|
rs2143087168
|
|
NM_000263.4(NAGLU):c.678+8G>C
|
|
|
NM_000263.4(NAGLU):c.678+8del
|
rs2510653409
|
|
NM_000263.4(NAGLU):c.679-11T>G
|
rs2510653773
|
|
NM_000263.4(NAGLU):c.679-15_679-12del
|
rs1599256272
|
|
NM_000263.4(NAGLU):c.679-16C>G
|
rs2092913649
|
|
NM_000263.4(NAGLU):c.679-16C>T
|
rs2092913649
|
|
NM_000263.4(NAGLU):c.679-19C>G
|
rs758493355
|
|
NM_000263.4(NAGLU):c.679-19C>T
|
rs758493355
|
|
NM_000263.4(NAGLU):c.679-20C>T
|
rs2092913631
|
|
NM_000263.4(NAGLU):c.679-5T>C
|
rs2143087834
|
|
NM_000263.4(NAGLU):c.679-6C>T
|
rs2143087825
|
|
NM_000263.4(NAGLU):c.679-7C>T
|
rs2510653775
|
|
NM_000263.4(NAGLU):c.684G>T (p.Arg228=)
|
|
|
NM_000263.4(NAGLU):c.69C>G (p.Gly23=)
|
rs2092905938
|
|
NM_000263.4(NAGLU):c.702C>T (p.Arg234=)
|
rs2092913790
|
|
NM_000263.4(NAGLU):c.717C>T (p.Thr239=)
|
rs2510653854
|
|
NM_000263.4(NAGLU):c.720A>C (p.Pro240=)
|
rs892493572
|
|
NM_000263.4(NAGLU):c.732A>C (p.Ala244=)
|
rs200729468
|
|
NM_000263.4(NAGLU):c.738G>C (p.Ala246=)
|
rs773222814
|
|
NM_000263.4(NAGLU):c.741G>A (p.Gly247=)
|
|
|
NM_000263.4(NAGLU):c.744T>C (p.His248=)
|
rs2092913999
|
|
NM_000263.4(NAGLU):c.750C>G (p.Pro250=)
|
rs539019626
|
|
NM_000263.4(NAGLU):c.756T>G (p.Ala252=)
|
rs752423543
|
|
NM_000263.4(NAGLU):c.759C>T (p.Val253=)
|
rs2510653954
|
|
NM_000263.4(NAGLU):c.762C>A (p.Thr254=)
|
rs1231353495
|
|
NM_000263.4(NAGLU):c.762C>T (p.Thr254=)
|
rs1231353495
|
|
NM_000263.4(NAGLU):c.764+10C>G
|
rs372400832
|
|
NM_000263.4(NAGLU):c.764+10del
|
|
|
NM_000263.4(NAGLU):c.764+14C>T
|
rs2510653990
|
|
NM_000263.4(NAGLU):c.764+19C>A
|
rs77738617
|
|
NM_000263.4(NAGLU):c.764+19C>T
|
rs77738617
|
|
NM_000263.4(NAGLU):c.764+20C>A
|
rs2510654007
|
|
NM_000263.4(NAGLU):c.764+7T>G
|
|
|
NM_000263.4(NAGLU):c.764+8T>C
|
rs2143088553
|
|
NM_000263.4(NAGLU):c.764+9C>T
|
rs2510653984
|
|
NM_000263.4(NAGLU):c.765-12G>C
|
rs1374716301
|
|
NM_000263.4(NAGLU):c.765-14T>C
|
rs2510656190
|
|
NM_000263.4(NAGLU):c.765-16T>C
|
rs1006672054
|
|
NM_000263.4(NAGLU):c.765-17C>T
|
rs2092919880
|
|
NM_000263.4(NAGLU):c.765-4C>T
|
rs755356822
|
|
NM_000263.4(NAGLU):c.765-5A>G
|
rs556600437
|
|
NM_000263.4(NAGLU):c.765-5A>T
|
rs556600437
|
|
NM_000263.4(NAGLU):c.768G>A (p.Val256=)
|
rs2092919944
|
|
NM_000263.4(NAGLU):c.771C>T (p.Phe257=)
|
rs1599258298
|
|
NM_000263.4(NAGLU):c.780C>T (p.Val260=)
|
rs1411789843
|
|
NM_000263.4(NAGLU):c.786C>T (p.Val262=)
|
rs1599258325
|
|
NM_000263.4(NAGLU):c.789G>A (p.Thr263=)
|
rs746543896
|
|
NM_000263.4(NAGLU):c.78C>G (p.Ala26=)
|
rs2092905964
|
|
NM_000263.4(NAGLU):c.792G>A (p.Lys264=)
|
rs2092920064
|
|
NM_000263.4(NAGLU):c.801T>C (p.Ser267=)
|
rs2143098123
|
|
NM_000263.4(NAGLU):c.807C>T (p.Gly269=)
|
rs2092920125
|
|
NM_000263.4(NAGLU):c.819T>C (p.Cys273=)
|
|
|
NM_000263.4(NAGLU):c.81G>T (p.Arg27=)
|
rs1021204618
|
|
NM_000263.4(NAGLU):c.831C>T (p.Cys277=)
|
rs1555622008
|
|
NM_000263.4(NAGLU):c.843G>C (p.Leu281=)
|
rs2143098501
|
|
NM_000263.4(NAGLU):c.855C>T (p.Asp285=)
|
rs2510656426
|
|
NM_000263.4(NAGLU):c.870C>T (p.Ile290=)
|
rs2510656447
|
|
NM_000263.4(NAGLU):c.882C>T (p.Leu294=)
|
rs753128312
|
|
NM_000263.4(NAGLU):c.886C>T (p.Leu296=)
|
rs1328217490
|
|
NM_000263.4(NAGLU):c.888G>A (p.Leu296=)
|
rs2143098928
|
|
NM_000263.4(NAGLU):c.897G>T (p.Leu299=)
|
rs2143098987
|
|
NM_000263.4(NAGLU):c.90G>A (p.Ala30=)
|
rs2143075591
|
|
NM_000263.4(NAGLU):c.927T>C (p.Tyr309=)
|
rs1599258507
|
|
NM_000263.4(NAGLU):c.933C>T (p.Ala311=)
|
rs115888189
|
|
NM_000263.4(NAGLU):c.939T>A (p.Thr313=)
|
rs2092920725
|
|
NM_000263.4(NAGLU):c.957A>T (p.Pro319=)
|
rs2143099579
|
|
NM_000263.4(NAGLU):c.963C>A (p.Ser321=)
|
rs760910696
|
|
NM_000263.4(NAGLU):c.966A>C (p.Ser322=)
|
rs2510656621
|
|
NM_000263.4(NAGLU):c.975C>A (p.Ser325=)
|
rs1172822987
|
|
NM_000263.4(NAGLU):c.987A>G (p.Ala329=)
|
rs2143099825
|
|
NM_000263.4(NAGLU):c.993C>G (p.Thr331=)
|
rs753183280
|
|
NM_000263.4(NAGLU):c.996T>C (p.Thr332=)
|
rs764483473
|
|
NM_000263.4(NAGLU):c.99G>A (p.Arg33=)
|
rs2143075635
|
|
NM_000263.4(NAGLU):c.9G>A (p.Ala3=)
|
rs1366797084
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_001005361.3(DNM2):c.105T>A (p.Ala35=)
|
rs760980172
|
|
NM_001005361.3(DNM2):c.1074G>T (p.Gly358=)
|
rs750577663
|
|
NM_001005361.3(DNM2):c.1086C>T (p.Ile362=)
|
rs2146014183
|
|
NM_001005361.3(DNM2):c.1092C>T (p.Arg364=)
|
rs2146014258
|
|
NM_001005361.3(DNM2):c.1095C>T (p.Ile365=)
|
rs746959606
|
|
NM_001005361.3(DNM2):c.1128+10C>A
|
rs1010041153
|
|
NM_001005361.3(DNM2):c.1128+10C>T
|
|
|
NM_001005361.3(DNM2):c.1128+11_1128+12del
|
|
|
NM_001005361.3(DNM2):c.1128+12C>G
|
rs537132157
|
|
NM_001005361.3(DNM2):c.1128+13_1128+14insA
|
rs1353252279
|
|
NM_001005361.3(DNM2):c.1128+15G>T
|
rs2146014756
|
|
NM_001005361.3(DNM2):c.1128+16G>T
|
rs775764080
|
|
NM_001005361.3(DNM2):c.1131G>A (p.Met377Ile)
|
rs2146022673
|
|
NM_001005361.3(DNM2):c.1140C>T (p.Asp380=)
|
|
|
NM_001005361.3(DNM2):c.114C>A (p.Gly38=)
|
rs1266406781
|
|
NM_001005361.3(DNM2):c.1167C>T (p.Ser389=)
|
rs2146022764
|
|
NM_001005361.3(DNM2):c.1170T>C (p.Tyr390=)
|
rs765373844
|
|
NM_001005361.3(DNM2):c.1188T>C (p.His396=)
|
rs1039592560
|
|
NM_001005361.3(DNM2):c.1191A>C (p.Gly397=)
|
rs2071897478
|
|
NM_001005361.3(DNM2):c.1196+13A>G
|
rs2513232157
|
|
NM_001005361.3(DNM2):c.1196+615G>A
|
rs2513236179
|
|
NM_001005361.3(DNM2):c.1196+628G>T
|
rs374376619
|
|
NM_001005361.3(DNM2):c.1196+634C>T
|
rs2146025884
|
|
NM_001005361.3(DNM2):c.1196+646G>A
|
rs2513236289
|
|
NM_001005361.3(DNM2):c.1196+655G>A
|
rs752497841
|
|
NM_001005361.3(DNM2):c.1196+658C>T
|
rs1599569966
|
|
NM_001005361.3(DNM2):c.1196+661T>C
|
|
|
NM_001005361.3(DNM2):c.1196+670G>A
|
|
|
NM_001005361.3(DNM2):c.1196+676C>G
|
rs115439545
|
|
NM_001005361.3(DNM2):c.1196+698C>T
|
rs879253980
|
|
NM_001005361.3(DNM2):c.1196+700G>A
|
rs1162156222
|
|
NM_001005361.3(DNM2):c.1196+715G>A
|
rs1338938129
|
|
NM_001005361.3(DNM2):c.1196+730A>G
|
rs1599570127
|
|
NM_001005361.3(DNM2):c.1196+751T>C
|
rs2513236771
|
|
NM_001005361.3(DNM2):c.1196+770C>T
|
rs2513236836
|
|
NM_001005361.3(DNM2):c.1196+775G>A
|
rs2071927275
|
|
NM_001005361.3(DNM2):c.1196+775G>T
|
|
|
NM_001005361.3(DNM2):c.1196+7del
|
rs768397600
|
|
NM_001005361.3(DNM2):c.1336-10G>T
|
rs2146038714
|
|
NM_001005361.3(DNM2):c.1336-19A>G
|
|
|
NM_001005361.3(DNM2):c.1336-5C>T
|
rs2513247807
|
|
NM_001005361.3(DNM2):c.1344C>T (p.Ser448=)
|
rs752934029
|
|
NM_001005361.3(DNM2):c.1350C>T (p.Pro450=)
|
|
|
NM_001005361.3(DNM2):c.1354T>C (p.Leu452=)
|
rs770599060
|
|
NM_001005361.3(DNM2):c.1356G>A (p.Leu452=)
|
rs2072021007
|
|
NM_001005361.3(DNM2):c.1365G>A (p.Glu455=)
|
rs2146038840
|
|
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)
|
rs745748213
|
|
NM_001005361.3(DNM2):c.1389C>T (p.Tyr463=)
|
rs1173436457
|
|
NM_001005361.3(DNM2):c.1392C>A (p.Ile464=)
|
rs2146038976
|
|
NM_001005361.3(DNM2):c.1401G>A (p.Arg467=)
|
|
|
NM_001005361.3(DNM2):c.1422+17T>C
|
rs371841391
|
|
NM_001005361.3(DNM2):c.1422+8_1422+14del
|
rs2146039160
|
|
NM_001005361.3(DNM2):c.1423-8T>C
|
rs1599583116
|
|
NM_001005361.3(DNM2):c.1425T>C (p.Ile475=)
|
rs375483999
|
|
NM_001005361.3(DNM2):c.142C>T (p.Leu48=)
|
rs753989925
|
|
NM_001005361.3(DNM2):c.1455C>T (p.Tyr485=)
|
rs2513267308
|
|
NM_001005361.3(DNM2):c.1464G>C (p.Thr488=)
|
|
|
NM_001005361.3(DNM2):c.1482C>A (p.Ile494=)
|
rs377458236
|
|
NM_001005361.3(DNM2):c.1485G>T (p.Gly495=)
|
rs1272308250
|
|
NM_001005361.3(DNM2):c.1493+14G>A
|
rs2513267495
|
|
NM_001005361.3(DNM2):c.1493+18C>T
|
rs1210171530
|
|
NM_001005361.3(DNM2):c.1493+7A>G
|
rs2072182650
|
|
NM_001005361.3(DNM2):c.1494-15G>T
|
rs2513281112
|
|
NM_001005361.3(DNM2):c.1494-6T>C
|
rs2146080287
|
|
NM_001005361.3(DNM2):c.1506G>A (p.Arg502=)
|
rs2513281171
|
|
NM_001005361.3(DNM2):c.1512G>C (p.Thr504=)
|
|
|
NM_001005361.3(DNM2):c.1542T>C (p.Asn514=)
|
|
|
NM_001005361.3(DNM2):c.1545+11C>T
|
rs1555712626
|
|
NM_001005361.3(DNM2):c.1545+14C>T
|
rs114713494
|
|
NM_001005361.3(DNM2):c.1545+17C>A
|
rs943090537
|
|
NM_001005361.3(DNM2):c.1545+18del
|
rs2146080581
|
|
NM_001005361.3(DNM2):c.1545+7C>A
|
rs1201489640
|
|
NM_001005361.3(DNM2):c.1546-18A>C
|
rs1426762153
|
|
NM_001005361.3(DNM2):c.1548G>A (p.Gly516=)
|
|
|
NM_001005361.3(DNM2):c.1557+10_1557+15dup
|
rs2146093632
|
|
NM_001005361.3(DNM2):c.1557+20G>A
|
rs2072435211
|
|
NM_001005361.3(DNM2):c.1557+9A>T
|
rs778469445
|
|
NM_001005361.3(DNM2):c.1558-11C>A
|
rs2513304142
|
|
NM_001005361.3(DNM2):c.1558-14G>A
|
|
|
NM_001005361.3(DNM2):c.1558-16G>A
|
rs751784829
|
|
NM_001005361.3(DNM2):c.1558-16G>T
|
rs751784829
|
|
NM_001005361.3(DNM2):c.1558-5C>T
|
rs777800520
|
|
NM_001005361.3(DNM2):c.1584C>T (p.Ile528=)
|
rs935512495
|
|
NM_001005361.3(DNM2):c.161+11G>A
|
|
|
NM_001005361.3(DNM2):c.161+12_161+29dup
|
rs750378486
|
|
NM_001005361.3(DNM2):c.161+14G>A
|
rs2512931917
|
|
NM_001005361.3(DNM2):c.161+7G>T
|
rs2145638077
|
|
NM_001005361.3(DNM2):c.162-15C>T
|
rs902418908
|
|
NM_001005361.3(DNM2):c.162-7C>G
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7C>T
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-8C>A
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-8C>G
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-8C>T
|
rs747484495
|
|
NM_001005361.3(DNM2):c.162-9C>G
|
rs200736669
|
|
NM_001005361.3(DNM2):c.162-9C>T
|
rs200736669
|
|
NM_001005361.3(DNM2):c.1641C>T (p.Ala547=)
|
rs538253489
|
|
NM_001005361.3(DNM2):c.1671+16G>T
|
rs752824768
|
|
NM_001005361.3(DNM2):c.1671+18G>T
|
rs2146112377
|
|
NM_001005361.3(DNM2):c.1672-13C>T
|
rs2513333186
|
|
NM_001005361.3(DNM2):c.1672-16T>C
|
rs368815502
|
|
NM_001005361.3(DNM2):c.1672-16_1672-15del
|
rs2513333153
|
|
NM_001005361.3(DNM2):c.1672-19_1672-16del
|
rs771706714
|
|
NM_001005361.3(DNM2):c.1686G>A (p.Lys562=)
|
rs2513333309
|
|
NM_001005361.3(DNM2):c.168C>T (p.Phe56=)
|
rs2513091746
|
|
NM_001005361.3(DNM2):c.1699C>T (p.Leu567=)
|
rs1477679266
|
|
NM_001005361.3(DNM2):c.1725G>A (p.Val575=)
|
rs1322970848
|
|
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=)
|
rs35365412
|
|
NM_001005361.3(DNM2):c.1734C>T (p.Gly578=)
|
rs765544231
|
|
NM_001005361.3(DNM2):c.174C>T (p.Pro58=)
|
rs773480707
|
|
NM_001005361.3(DNM2):c.177C>T (p.Arg59=)
|
rs762795230
|
|
NM_001005361.3(DNM2):c.1781+10C>G
|
rs2513333656
|
|
NM_001005361.3(DNM2):c.1781+13G>A
|
rs1316933028
|
|
NM_001005361.3(DNM2):c.1781+14G>A
|
rs2513333702
|
|
NM_001005361.3(DNM2):c.1781+19T>C
|
|
|
NM_001005361.3(DNM2):c.1782-10C>A
|
rs1568321025
|
|
NM_001005361.3(DNM2):c.1782-11C>A
|
rs78580529
|
|
NM_001005361.3(DNM2):c.1782-16C>T
|
rs2073057242
|
|
NM_001005361.3(DNM2):c.1782-4G>C
|
rs767424969
|
|
NM_001005361.3(DNM2):c.1782-5C>G
|
|
|
NM_001005361.3(DNM2):c.1782-7C>A
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1782-7C>G
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1782-7C>T
|
rs200843089
|
|
NM_001005361.3(DNM2):c.1881C>T (p.Pro627=)
|
rs767496363
|
|
NM_001005361.3(DNM2):c.1893+10C>A
|
rs147321173
|
|
NM_001005361.3(DNM2):c.1893+9C>T
|
rs2513349133
|
|
NM_001005361.3(DNM2):c.1894-11C>A
|
rs2146187647
|
|
NM_001005361.3(DNM2):c.1894-12T>G
|
rs2073097418
|
|
NM_001005361.3(DNM2):c.1894-13C>T
|
|
|
NM_001005361.3(DNM2):c.1894-13_1894-12insA
|
rs2513354427
|
|
NM_001005361.3(DNM2):c.1923C>T (p.Asn641=)
|
rs753267618
|
|
NM_001005361.3(DNM2):c.1971C>T (p.Arg657=)
|
rs559056873
|
|
NM_001005361.3(DNM2):c.1977G>A (p.Leu659=)
|
rs2513354937
|
|
NM_001005361.3(DNM2):c.1977G>T (p.Leu659=)
|
|
|
NM_001005361.3(DNM2):c.1992G>C (p.Val664=)
|
rs2513354984
|
|
NM_001005361.3(DNM2):c.1995C>T (p.Ala665=)
|
rs2073100795
|
|
NM_001005361.3(DNM2):c.2034C>G (p.Thr678=)
|
rs2513355200
|
|
NM_001005361.3(DNM2):c.2058+20T>C
|
|
|
NM_001005361.3(DNM2):c.2059-13C>A
|
rs2073244936
|
|
NM_001005361.3(DNM2):c.2059-8G>A
|
rs1217572149
|
|
NM_001005361.3(DNM2):c.2061G>T (p.Thr687=)
|
rs149164657
|
|
NM_001005361.3(DNM2):c.2064G>A (p.Lys688=)
|
rs930737609
|
|
NM_001005361.3(DNM2):c.2079C>T (p.His693=)
|
rs777872270
|
|
NM_001005361.3(DNM2):c.2095C>T (p.Leu699=)
|
rs2513371520
|
|
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
|
rs554971107
|
|
NM_001005361.3(DNM2):c.2106G>T (p.Ser702=)
|
rs554971107
|
|
NM_001005361.3(DNM2):c.210T>C (p.Ile70=)
|
rs878854149
|
|
NM_001005361.3(DNM2):c.2121C>T (p.Ser707=)
|
rs2513371686
|
|
NM_001005361.3(DNM2):c.2133G>A (p.Glu711=)
|
rs773712386
|
|
NM_001005361.3(DNM2):c.2136G>A (p.Ser712=)
|
rs1555716924
|
|
NM_001005361.3(DNM2):c.2136G>T (p.Ser712=)
|
rs1555716924
|
|
NM_001005361.3(DNM2):c.2139T>G (p.Ala713=)
|
rs2229920
|
|
NM_001005361.3(DNM2):c.213G>T (p.Leu71=)
|
|
|
NM_001005361.3(DNM2):c.2157G>A (p.Arg719=)
|
rs2073248283
|
|
NM_001005361.3(DNM2):c.2163C>T (p.Asp721=)
|
rs770491381
|
|
NM_001005361.3(DNM2):c.222C>A (p.Ile74=)
|
|
|
NM_001005361.3(DNM2):c.2235C>T (p.Ser745=)
|
rs2146205946
|
|
NM_001005361.3(DNM2):c.2238G>T (p.Thr746=)
|
rs370550750
|
|
NM_001005361.3(DNM2):c.2250G>A (p.Pro750=)
|
rs1446564477
|
|
NM_001005361.3(DNM2):c.2253T>G (p.Pro751=)
|
rs200155565
|
|
NM_001005361.3(DNM2):c.2259T>C (p.Asp753=)
|
rs2513372293
|
|
NM_001005361.3(DNM2):c.2291+16T>G
|
rs2146206194
|
|
NM_001005361.3(DNM2):c.2291+19C>T
|
rs1397590460
|
|
NM_001005361.3(DNM2):c.2292-12C>T
|
rs752304369
|
|
NM_001005361.3(DNM2):c.2292-16C>G
|
rs2073285352
|
|
NM_001005361.3(DNM2):c.2292-18C>A
|
rs2513376422
|
|
NM_001005361.3(DNM2):c.2292-7C>G
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2292-7C>T
|
rs2073285852
|
|
NM_001005361.3(DNM2):c.2316G>A (p.Val772=)
|
|
|
NM_001005361.3(DNM2):c.2328C>T (p.His776=)
|
rs766387630
|
|
NM_001005361.3(DNM2):c.2334T>C (p.Pro778=)
|
rs2146209802
|
|
NM_001005361.3(DNM2):c.2340G>T (p.Arg780=)
|
rs766944681
|
|
NM_001005361.3(DNM2):c.2349A>T (p.Ala783=)
|
rs2073288189
|
|
NM_001005361.3(DNM2):c.235+12C>G
|
rs147026993
|
|
NM_001005361.3(DNM2):c.235+12C>T
|
rs147026993
|
|
NM_001005361.3(DNM2):c.235+13G>T
|
rs201274056
|
|
NM_001005361.3(DNM2):c.235+14G>A
|
rs2145855889
|
|
NM_001005361.3(DNM2):c.2352G>A (p.Val784=)
|
rs2146209880
|
|
NM_001005361.3(DNM2):c.2358C>T (p.Gly786=)
|
rs2073288383
|
|
NM_001005361.3(DNM2):c.236-10C>A
|
rs1478094557
|
|
NM_001005361.3(DNM2):c.236-19A>G
|
|
|
NM_001005361.3(DNM2):c.2364T>C (p.Thr788=)
|
rs2513376994
|
|
NM_001005361.3(DNM2):c.2397G>T (p.Gly799=)
|
rs759407101
|
|
NM_001005361.3(DNM2):c.2406C>T (p.Ala802=)
|
rs2146210111
|
|
NM_001005361.3(DNM2):c.2415G>A (p.Ser805=)
|
|
|
NM_001005361.3(DNM2):c.243C>G (p.Ala81=)
|
rs755366581
|
|
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser)
|
rs1438459794
|
|
NM_001005361.3(DNM2):c.2448G>A (p.Gln816=)
|
rs1325496934
|
|
NM_001005361.3(DNM2):c.2451C>T (p.Ser817=)
|
rs751961437
|
|
NM_001005361.3(DNM2):c.2466T>C (p.Ser822=)
|
rs781754305
|
|
NM_001005361.3(DNM2):c.2472C>G (p.Leu824=)
|
rs2146210362
|
|
NM_001005361.3(DNM2):c.2496A>T (p.Pro832=)
|
|
|
NM_001005361.3(DNM2):c.2499T>C (p.Ser833=)
|
rs2513377731
|
|
NM_001005361.3(DNM2):c.2526T>A (p.Ile842=)
|
rs1173105671
|
|
NM_001005361.3(DNM2):c.2543+17G>A
|
|
|
NM_001005361.3(DNM2):c.2543+18C>T
|
|
|
NM_001005361.3(DNM2):c.2543+20C>G
|
|
|
NM_001005361.3(DNM2):c.2544-12T>C
|
rs2513382826
|
|
NM_001005361.3(DNM2):c.2544-15T>C
|
rs2513382794
|
|
NM_001005361.3(DNM2):c.2544-20T>C
|
|
|
NM_001005361.3(DNM2):c.2571G>A (p.Arg857=)
|
rs2073331497
|
|
NM_001005361.3(DNM2):c.2577C>T (p.Thr859=)
|
rs2146214089
|
|
NM_001005361.3(DNM2):c.2583C>A (p.Ile861=)
|
rs1303085497
|
|
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=)
|
rs1555717448
|
|
NM_001005361.3(DNM2):c.2592C>A (p.Ala864=)
|
rs373161548
|
|
NM_001005361.3(DNM2):c.25C>T (p.Leu9=)
|
|
|
NM_001005361.3(DNM2):c.2607C>A (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.2607C>G (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=)
|
rs144472798
|
|
NM_001005361.3(DNM2):c.282T>C (p.Phe94=)
|
rs1294440413
|
|
NM_001005361.3(DNM2):c.294G>A (p.Arg98=)
|
rs2145911472
|
|
NM_001005361.3(DNM2):c.33G>T (p.Pro11=)
|
rs779502758
|
|
NM_001005361.3(DNM2):c.354G>A (p.Val118=)
|
rs2513139993
|
|
NM_001005361.3(DNM2):c.369A>C (p.Arg123=)
|
|
|
NM_001005361.3(DNM2):c.385+11C>T
|
|
|
NM_001005361.3(DNM2):c.394T>C (p.Leu132=)
|
rs2145924405
|
|
NM_001005361.3(DNM2):c.399C>T (p.Thr133=)
|
|
|
NM_001005361.3(DNM2):c.429G>A (p.Val143=)
|
rs769461123
|
|
NM_001005361.3(DNM2):c.429G>T (p.Val143=)
|
rs769461123
|
|
NM_001005361.3(DNM2):c.438C>T (p.Gly146=)
|
rs772730983
|
|
NM_001005361.3(DNM2):c.45A>G (p.Lys15=)
|
rs2145637652
|
|
NM_001005361.3(DNM2):c.46C>T (p.Leu16=)
|
rs2145637657
|
|
NM_001005361.3(DNM2):c.486G>A (p.Gln162=)
|
rs1271034791
|
|
NM_001005361.3(DNM2):c.48G>A (p.Leu16=)
|
rs746688611
|
|
NM_001005361.3(DNM2):c.501G>A (p.Glu167=)
|
rs751712223
|
|
NM_001005361.3(DNM2):c.507C>T (p.Ser169=)
|
rs754861829
|
|
NM_001005361.3(DNM2):c.514C>T (p.Leu172=)
|
rs1599530007
|
|
NM_001005361.3(DNM2):c.561C>T (p.Leu187=)
|
rs1599530095
|
|
NM_001005361.3(DNM2):c.570C>A (p.Ala190=)
|
rs762315864
|
|
NM_001005361.3(DNM2):c.573G>A (p.Lys191=)
|
rs2071136034
|
|
NM_001005361.3(DNM2):c.579C>G (p.Val193=)
|
rs201924777
|
|
NM_001005361.3(DNM2):c.589+10A>G
|
rs2145924891
|
|
NM_001005361.3(DNM2):c.589+13C>T
|
rs2145924904
|
|
NM_001005361.3(DNM2):c.589+17G>A
|
rs374377836
|
|
NM_001005361.3(DNM2):c.590-14C>T
|
rs2071181078
|
|
NM_001005361.3(DNM2):c.603C>A (p.Ile201=)
|
rs980931289
|
|
NM_001005361.3(DNM2):c.642C>G (p.Thr214=)
|
rs752944817
|
|
NM_001005361.3(DNM2):c.648C>T (p.Ala216=)
|
rs1060504950
|
|
NM_001005361.3(DNM2):c.66C>T (p.Ser22=)
|
rs906211174
|
|
NM_001005361.3(DNM2):c.688+11G>A
|
rs2071183855
|
|
NM_001005361.3(DNM2):c.688+12G>A
|
rs557057188
|
|
NM_001005361.3(DNM2):c.688+12G>C
|
|
|
NM_001005361.3(DNM2):c.688+12G>T
|
rs557057188
|
|
NM_001005361.3(DNM2):c.688+17G>C
|
|
|
NM_001005361.3(DNM2):c.689-19T>C
|
rs746698179
|
|
NM_001005361.3(DNM2):c.695T>A (p.Ile232Asn)
|
rs749672066
|
|
NM_001005361.3(DNM2):c.69C>A (p.Ile23=)
|
rs1213386129
|
|
NM_001005361.3(DNM2):c.717G>A (p.Gln239=)
|
rs2513182904
|
|
NM_001005361.3(DNM2):c.72C>T (p.Gly24=)
|
rs2068819928
|
|
NM_001005361.3(DNM2):c.732C>G (p.Gly244=)
|
rs2513182923
|
|
NM_001005361.3(DNM2):c.744C>A (p.Ile248=)
|
rs572493411
|
|
NM_001005361.3(DNM2):c.744C>T (p.Ile248=)
|
rs572493411
|
|
NM_001005361.3(DNM2):c.756G>A (p.Leu252=)
|
rs1422139221
|
|
NM_001005361.3(DNM2):c.759A>C (p.Ala253=)
|
|
|
NM_001005361.3(DNM2):c.771G>A (p.Lys257=)
|
rs2145960350
|
|
NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile)
|
rs145607989
|
|
NM_001005361.3(DNM2):c.789G>C (p.Pro263=)
|
rs199976453
|
|
NM_001005361.3(DNM2):c.795C>T (p.Tyr265=)
|
|
|
NM_001005361.3(DNM2):c.837G>A (p.Lys279=)
|
rs2145960645
|
|
NM_001005361.3(DNM2):c.849+19C>T
|
rs558595804
|
|
NM_001005361.3(DNM2):c.849+7C>T
|
rs2071433383
|
|
NM_001005361.3(DNM2):c.849+8A>C
|
rs2145960743
|
|
NM_001005361.3(DNM2):c.850-13CT[2]
|
rs1404422473
|
|
NM_001005361.3(DNM2):c.850-3C>T
|
rs747522254
|
|
NM_001005361.3(DNM2):c.850-6C>T
|
|
|
NM_001005361.3(DNM2):c.876G>T (p.Ser292=)
|
rs749140605
|
|
NM_001005361.3(DNM2):c.879G>C (p.Leu293=)
|
|
|
NM_001005361.3(DNM2):c.885C>G (p.Ala295=)
|
|
|
NM_001005361.3(DNM2):c.888A>G (p.Leu296=)
|
|
|
NM_001005361.3(DNM2):c.91C>T (p.Leu31=)
|
rs2512931576
|
|
NM_001005361.3(DNM2):c.930G>A (p.Glu310=)
|
rs1599552792
|
|
NM_001005361.3(DNM2):c.936G>A (p.Glu312=)
|
rs949106319
|
|
NM_001005361.3(DNM2):c.96G>T (p.Pro32=)
|
rs767726067
|
|
NM_001005361.3(DNM2):c.987G>C (p.Leu329=)
|
rs761023896
|
|
NM_001005361.3(DNM2):c.988C>T (p.Leu330=)
|
rs2145978278
|
|
NM_001005361.3(DNM2):c.992+13del
|
rs1417439819
|
|
NM_001005361.3(DNM2):c.992+14C>T
|
rs755293939
|
|
NM_001005361.3(DNM2):c.992+17CCA[4]
|
rs758857697
|
|
NM_001005361.3(DNM2):c.992+17CCA[6]
|
rs758857697
|
|
NM_001005361.3(DNM2):c.992+19A>T
|
rs2145978561
|
|
NM_001005361.3(DNM2):c.992+20C>G
|
rs1264296316
|
|
NM_001005361.3(DNM2):c.993-16T>A
|
rs776227722
|
|
NM_001005361.3(DNM2):c.993-16T>C
|
rs776227722
|
|
NM_001005361.3(DNM2):c.993-20C>T
|
rs1239150270
|
|
NM_001005361.3(DNM2):c.993-7C>G
|
rs2071833224
|
|
NM_001005361.3(DNM2):c.99G>A (p.Gln33=)
|
rs2512931610
|
|
NM_001005373.4(LRSAM1):c.1011C>T (p.Ser337=)
|
rs886063456
|
|
NM_001005373.4(LRSAM1):c.1026_1027delinsTT (p.Leu342_Leu343=)
|
rs1554757292
|
|
NM_001005373.4(LRSAM1):c.1035C>T (p.Asp345=)
|
rs766701971
|
|
NM_001005373.4(LRSAM1):c.1043+18G>C
|
rs775108432
|
|
NM_001005373.4(LRSAM1):c.1071A>G (p.Lys357=)
|
rs1588122290
|
|
NM_001005373.4(LRSAM1):c.1083T>C (p.Asn361=)
|
rs1835524969
|
|
NM_001005373.4(LRSAM1):c.1088+9T>C
|
rs753087190
|
|
NM_001005373.4(LRSAM1):c.1089-11T>A
|
rs771106613
|
|
NM_001005373.4(LRSAM1):c.1093A>C (p.Arg365=)
|
rs2132073036
|
|
NM_001005373.4(LRSAM1):c.1119C>A (p.Thr373=)
|
rs1835594332
|
|
NM_001005373.4(LRSAM1):c.1200G>A (p.Arg400=)
|
|
|
NM_001005373.4(LRSAM1):c.1203C>T (p.Leu401=)
|
rs774735924
|
|
NM_001005373.4(LRSAM1):c.1251C>A (p.Ala417=)
|
rs1045676549
|
|
NM_001005373.4(LRSAM1):c.1259+12A>G
|
rs2539406871
|
|
NM_001005373.4(LRSAM1):c.1259+16G>T
|
rs907040553
|
|
NM_001005373.4(LRSAM1):c.1260-13_1260-12del
|
rs747093644
|
|
NM_001005373.4(LRSAM1):c.126A>G (p.Ser42=)
|
rs1404495701
|
|
NM_001005373.4(LRSAM1):c.1281A>G (p.Arg427=)
|
rs2539413106
|
|
NM_001005373.4(LRSAM1):c.129+16T>C
|
rs1421898289
|
|
NM_001005373.4(LRSAM1):c.1299G>A (p.Ser433=)
|
rs755070977
|
|
NM_001005373.4(LRSAM1):c.130-19C>T
|
rs1564249268
|
|
NM_001005373.4(LRSAM1):c.1347+8_1347+20del
|
rs2539413423
|
|
NM_001005373.4(LRSAM1):c.1350C>T (p.Ser450=)
|
rs369401880
|
|
NM_001005373.4(LRSAM1):c.135A>G (p.Pro45=)
|
|
|
NM_001005373.4(LRSAM1):c.1371C>T (p.Phe457=)
|
rs571925919
|
|
NM_001005373.4(LRSAM1):c.1440T>C (p.Thr480=)
|
rs756804646
|
|
NM_001005373.4(LRSAM1):c.1440T>G (p.Thr480=)
|
rs756804646
|
|
NM_001005373.4(LRSAM1):c.1503+14C>T
|
rs2539428112
|
|
NM_001005373.4(LRSAM1):c.1504-10T>C
|
|
|
NM_001005373.4(LRSAM1):c.1504-16G>A
|
|
|
NM_001005373.4(LRSAM1):c.1504-5C>T
|
rs377190920
|
|
NM_001005373.4(LRSAM1):c.1504-8G>A
|
|
|
NM_001005373.4(LRSAM1):c.1504-8G>C
|
rs1295097741
|
|
NM_001005373.4(LRSAM1):c.153A>C (p.Thr51=)
|
rs2131991694
|
|
NM_001005373.4(LRSAM1):c.153A>G (p.Thr51=)
|
rs2131991694
|
|
NM_001005373.4(LRSAM1):c.1557C>T (p.Leu519=)
|
rs1352690878
|
|
NM_001005373.4(LRSAM1):c.1573C>A (p.Arg525=)
|
rs1442123730
|
|
NM_001005373.4(LRSAM1):c.1584G>A (p.Glu528=)
|
|
|
NM_001005373.4(LRSAM1):c.1599+17T>C
|
rs368471851
|
|
NM_001005373.4(LRSAM1):c.1599+20G>A
|
rs2132103431
|
|
NM_001005373.4(LRSAM1):c.1599+9_1599+10del
|
rs1588134360
|
|
NM_001005373.4(LRSAM1):c.1602G>A (p.Thr534=)
|
rs766032321
|
|
NM_001005373.4(LRSAM1):c.1665T>G (p.Leu555=)
|
rs2539442865
|
|
NM_001005373.4(LRSAM1):c.1680C>T (p.Pro560=)
|
rs750477515
|
|
NM_001005373.4(LRSAM1):c.1699-10T>C
|
rs2539445571
|
|
NM_001005373.4(LRSAM1):c.1701A>G (p.Glu567=)
|
rs2132112222
|
|
NM_001005373.4(LRSAM1):c.1731C>A (p.Leu577=)
|
|
|
NM_001005373.4(LRSAM1):c.174+33_174+34insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGCCCGCCACTCCGCCCGGCTAATTTTATTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTTCAGAGACTTTCTT
|
rs2131991830
|
|
NM_001005373.4(LRSAM1):c.175-12C>T
|
rs1167547039
|
|
NM_001005373.4(LRSAM1):c.175-6A>G
|
rs2539309601
|
|
NM_001005373.4(LRSAM1):c.1782C>T (p.Arg594=)
|
rs753979299
|
|
NM_001005373.4(LRSAM1):c.1789C>T (p.Leu597=)
|
rs1588137639
|
|
NM_001005373.4(LRSAM1):c.1830+15T>A
|
|
|
NM_001005373.4(LRSAM1):c.1830+8G>A
|
rs2539446460
|
|
NM_001005373.4(LRSAM1):c.1831-14T>C
|
|
|
NM_001005373.4(LRSAM1):c.1831-15C>T
|
rs2539450639
|
|
NM_001005373.4(LRSAM1):c.1831-19C>T
|
rs778517874
|
|
NM_001005373.4(LRSAM1):c.1878C>T (p.Val626=)
|
rs2132116337
|
|
NM_001005373.4(LRSAM1):c.1887G>C (p.Leu629=)
|
|
|
NM_001005373.4(LRSAM1):c.1913-20T>G
|
rs2132127818
|
|
NM_001005373.4(LRSAM1):c.1913-4del
|
rs2539463620
|
|
NM_001005373.4(LRSAM1):c.1938C>T (p.Val646=)
|
rs772281232
|
|
NM_001005373.4(LRSAM1):c.1941C>G (p.Val647=)
|
rs1000632610
|
|
NM_001005373.4(LRSAM1):c.1941C>T (p.Val647=)
|
rs1000632610
|
|
NM_001005373.4(LRSAM1):c.1953C>A (p.Ala651=)
|
rs2539463950
|
|
NM_001005373.4(LRSAM1):c.198C>T (p.His66=)
|
rs533231306
|
|
NM_001005373.4(LRSAM1):c.2010G>A (p.Val670=)
|
rs2539464406
|
|
NM_001005373.4(LRSAM1):c.2028C>A (p.Val676=)
|
rs566890772
|
|
NM_001005373.4(LRSAM1):c.2028C>G (p.Val676=)
|
rs566890772
|
|
NM_001005373.4(LRSAM1):c.2037G>A (p.Leu679=)
|
rs765677256
|
|
NM_001005373.4(LRSAM1):c.2046+10G>A
|
rs2132128662
|
|
NM_001005373.4(LRSAM1):c.2046+13C>A
|
|
|
NM_001005373.4(LRSAM1):c.2046+3_2046+6dup
|
rs1294543474
|
|
NM_001005373.4(LRSAM1):c.2046+9G>A
|
rs750152286
|
|
NM_001005373.4(LRSAM1):c.2047-4C>T
|
rs2539470565
|
|
NM_001005373.4(LRSAM1):c.2049C>T (p.Ala683=)
|
|
|
NM_001005373.4(LRSAM1):c.2103G>A (p.Gln701=)
|
rs777789178
|
|
NM_001005373.4(LRSAM1):c.2115C>T (p.Thr705=)
|
rs1410005477
|
|
NM_001005373.4(LRSAM1):c.2121G>T (p.Pro707=)
|
rs570732998
|
|
NM_001005373.4(LRSAM1):c.2151C>G (p.Leu717=)
|
|
|
NM_001005373.4(LRSAM1):c.246C>T (p.Thr82=)
|
rs1168027198
|
|
NM_001005373.4(LRSAM1):c.252+10C>T
|
rs765686374
|
|
NM_001005373.4(LRSAM1):c.252+9C>T
|
rs1834560472
|
|
NM_001005373.4(LRSAM1):c.253-14T>C
|
|
|
NM_001005373.4(LRSAM1):c.253-15G>A
|
|
|
NM_001005373.4(LRSAM1):c.253-9C>A
|
rs199925705
|
|
NM_001005373.4(LRSAM1):c.253-9C>T
|
rs199925705
|
|
NM_001005373.4(LRSAM1):c.258A>G (p.Leu86=)
|
rs1259389825
|
|
NM_001005373.4(LRSAM1):c.300G>C (p.Leu100=)
|
|
|
NM_001005373.4(LRSAM1):c.321+14A>G
|
rs2132003521
|
|
NM_001005373.4(LRSAM1):c.322-12C>T
|
|
|
NM_001005373.4(LRSAM1):c.322-17C>T
|
rs1481920738
|
|
NM_001005373.4(LRSAM1):c.375C>T (p.Asn125=)
|
rs779873656
|
|
NM_001005373.4(LRSAM1):c.39G>A (p.Glu13=)
|
rs2539300256
|
|
NM_001005373.4(LRSAM1):c.406+13A>G
|
rs2539324272
|
|
NM_001005373.4(LRSAM1):c.406+15G>A
|
rs201808404
|
|
NM_001005373.4(LRSAM1):c.406+17C>T
|
rs1271181540
|
|
NM_001005373.4(LRSAM1):c.406+7A>T
|
rs1163117546
|
|
NM_001005373.4(LRSAM1):c.407-15T>G
|
rs1422088243
|
|
NM_001005373.4(LRSAM1):c.407-8C>T
|
rs747087615
|
|
NM_001005373.4(LRSAM1):c.438G>C (p.Val146=)
|
rs770348926
|
|
NM_001005373.4(LRSAM1):c.438G>T (p.Val146=)
|
rs770348926
|
|
NM_001005373.4(LRSAM1):c.441G>A (p.Gly147=)
|
rs1834777290
|
|
NM_001005373.4(LRSAM1):c.454C>T (p.Leu152=)
|
rs140143823
|
|
NM_001005373.4(LRSAM1):c.471C>T (p.Ile157=)
|
rs1588100876
|
|
NM_001005373.4(LRSAM1):c.528+15G>A
|
rs758039190
|
|
NM_001005373.4(LRSAM1):c.528+8G>A
|
rs2539328841
|
|
NM_001005373.4(LRSAM1):c.549G>A (p.Ser183=)
|
rs1459773762
|
|
NM_001005373.4(LRSAM1):c.564G>C (p.Pro188=)
|
rs774399646
|
|
NM_001005373.4(LRSAM1):c.564G>T (p.Pro188=)
|
rs774399646
|
|
NM_001005373.4(LRSAM1):c.619+14G>T
|
rs770398029
|
|
NM_001005373.4(LRSAM1):c.619+15C>T
|
rs1286588185
|
|
NM_001005373.4(LRSAM1):c.620-11G>A
|
rs369968003
|
|
NM_001005373.4(LRSAM1):c.620-11G>C
|
rs369968003
|
|
NM_001005373.4(LRSAM1):c.620-14C>A
|
|
|
NM_001005373.4(LRSAM1):c.620-8T>C
|
rs2132047746
|
|
NM_001005373.4(LRSAM1):c.620-9C>A
|
rs1588114537
|
|
NM_001005373.4(LRSAM1):c.636C>T (p.Tyr212=)
|
|
|
NM_001005373.4(LRSAM1):c.642C>G (p.Pro214=)
|
rs550546958
|
|
NM_001005373.4(LRSAM1):c.645T>A (p.Pro215=)
|
rs1588114575
|
|
NM_001005373.4(LRSAM1):c.706G>A (p.Asp236Asn)
|
rs551957380
|
|
NM_001005373.4(LRSAM1):c.73-14C>A
|
rs746055151
|
|
NM_001005373.4(LRSAM1):c.73-14C>G
|
rs746055151
|
|
NM_001005373.4(LRSAM1):c.750+15C>T
|
rs200426609
|
|
NM_001005373.4(LRSAM1):c.751-16C>A
|
|
|
NM_001005373.4(LRSAM1):c.751-18_751-15del
|
rs754165447
|
|
NM_001005373.4(LRSAM1):c.751-20C>T
|
|
|
NM_001005373.4(LRSAM1):c.781-11G>C
|
rs1835446927
|
|
NM_001005373.4(LRSAM1):c.804C>A (p.Leu268=)
|
|
|
NM_001005373.4(LRSAM1):c.831G>T (p.Gly277=)
|
rs755916665
|
|
NM_001005373.4(LRSAM1):c.843C>T (p.His281=)
|
rs779095402
|
|
NM_001005373.4(LRSAM1):c.846C>T (p.Thr282=)
|
rs548270854
|
|
NM_001005373.4(LRSAM1):c.873G>A (p.Gln291=)
|
rs2132062633
|
|
NM_001005373.4(LRSAM1):c.903+12G>A
|
|
|
NM_001005373.4(LRSAM1):c.903+13C>A
|
rs1239122923
|
|
NM_001005373.4(LRSAM1):c.903+16G>A
|
|
|
NM_001005373.4(LRSAM1):c.904-16C>T
|
rs1415791310
|
|
NM_001005373.4(LRSAM1):c.904-18C>T
|
rs2132063814
|
|
NM_001005373.4(LRSAM1):c.904-20A>T
|
rs1588120687
|
|
NM_001122955.4(BSCL2):c.1005+11_1005+16del
|
rs2539145760
|
|
NM_001122955.4(BSCL2):c.1005+15G>T
|
rs756868020
|
|
NM_001122955.4(BSCL2):c.1005+16G>A
|
rs1428708514
|
|
NM_001122955.4(BSCL2):c.1005+19C>T
|
rs751077790
|
|
NM_001122955.4(BSCL2):c.1005+4G>T
|
rs367731146
|
|
NM_001122955.4(BSCL2):c.1005+8G>T
|
rs864622631
|
|
NM_001122955.4(BSCL2):c.1006-8C>T
|
rs1057521013
|
|
NM_001122955.4(BSCL2):c.1014C>A (p.Ile338=)
|
|
|
NM_001122955.4(BSCL2):c.1014C>T (p.Ile338=)
|
|
|
NM_001122955.4(BSCL2):c.1072+16G>C
|
rs2539145078
|
|
NM_001122955.4(BSCL2):c.1072+7dup
|
rs1554982976
|
|
NM_001122955.4(BSCL2):c.1073-14C>T
|
rs759489687
|
|
NM_001122955.4(BSCL2):c.1073-16C>G
|
rs765285330
|
|
NM_001122955.4(BSCL2):c.1073-16C>T
|
rs765285330
|
|
NM_001122955.4(BSCL2):c.1073-16del
|
rs2539144350
|
|
NM_001122955.4(BSCL2):c.1073-8A>T
|
rs2134690260
|
|
NM_001122955.4(BSCL2):c.1083C>T (p.Gly361=)
|
rs2539144280
|
|
NM_001122955.4(BSCL2):c.1119G>A (p.Glu373=)
|
rs2134689968
|
|
NM_001122955.4(BSCL2):c.1143C>G (p.Pro381=)
|
rs150914934
|
|
NM_001122955.4(BSCL2):c.1154-13C>T
|
|
|
NM_001122955.4(BSCL2):c.1154-14C>A
|
|
|
NM_001122955.4(BSCL2):c.1154-20C>T
|
rs2539143810
|
|
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=)
|
rs17850877
|
|
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del)
|
rs556562410
|
|
NM_001122955.4(BSCL2):c.1234+19C>A
|
rs748453195
|
|
NM_001122955.4(BSCL2):c.1279C>T (p.Leu427=)
|
rs1197237474
|
|
NM_001122955.4(BSCL2):c.1311C>T (p.Ala437=)
|
rs1945274691
|
|
NM_001122955.4(BSCL2):c.1314T>C (p.Pro438=)
|
rs1370817987
|
|
NM_001122955.4(BSCL2):c.1341A>G (p.Glu447=)
|
rs2539142758
|
|
NM_001122955.4(BSCL2):c.1359C>G (p.Leu453=)
|
rs1426557167
|
|
NM_001122955.4(BSCL2):c.1368C>T (p.Arg456=)
|
rs2134688373
|
|
NM_001122955.4(BSCL2):c.1374C>T (p.Thr458=)
|
rs1590867827
|
|
NM_001122955.4(BSCL2):c.219C>G (p.Ala73=)
|
|
|
NM_001122955.4(BSCL2):c.234G>A (p.Gln78=)
|
rs2083512739
|
|
NM_001122955.4(BSCL2):c.264C>A (p.Ala88=)
|
rs2134740784
|
|
NM_001122955.4(BSCL2):c.270G>A (p.Arg90=)
|
|
|
NM_001122955.4(BSCL2):c.276G>A (p.Leu92=)
|
|
|
NM_001122955.4(BSCL2):c.294C>T (p.Leu98=)
|
|
|
NM_001122955.4(BSCL2):c.297C>T (p.Phe99=)
|
rs1590885150
|
|
NM_001122955.4(BSCL2):c.348C>T (p.Phe116=)
|
rs1590885075
|
|
NM_001122955.4(BSCL2):c.354T>C (p.Tyr118=)
|
|
|
NM_001122955.4(BSCL2):c.404+11C>A
|
rs375818964
|
|
NM_001122955.4(BSCL2):c.404+11C>G
|
rs375818964
|
|
NM_001122955.4(BSCL2):c.404+11C>T
|
rs375818964
|
|
NM_001122955.4(BSCL2):c.404+14_404+16del
|
rs2539181524
|
|
NM_001122955.4(BSCL2):c.405-16del
|
rs774015823
|
|
NM_001122955.4(BSCL2):c.405-19C>G
|
|
|
NM_001122955.4(BSCL2):c.405-21TCC[2]
|
rs768556778
|
|
NM_001122955.4(BSCL2):c.405-7C>T
|
rs1554985037
|
|
NM_001122955.4(BSCL2):c.423C>T (p.Ser141=)
|
rs756135904
|
|
NM_001122955.4(BSCL2):c.456T>C (p.Asn152=)
|
|
|
NM_001122955.4(BSCL2):c.480T>C (p.Arg160=)
|
rs2134729590
|
|
NM_001122955.4(BSCL2):c.486+8T>G
|
rs1238731769
|
|
NM_001122955.4(BSCL2):c.487-4G>A
|
rs1253008663
|
|
NM_001122955.4(BSCL2):c.501A>G (p.Gly167=)
|
rs1590873161
|
|
NM_001122955.4(BSCL2):c.507G>C (p.Pro169=)
|
rs145393127
|
|
NM_001122955.4(BSCL2):c.507G>T (p.Pro169=)
|
rs145393127
|
|
NM_001122955.4(BSCL2):c.528T>G (p.Leu176=)
|
rs2539154849
|
|
NM_001122955.4(BSCL2):c.546T>A (p.Pro182=)
|
rs753309219
|
|
NM_001122955.4(BSCL2):c.546T>C (p.Pro182=)
|
rs753309219
|
|
NM_001122955.4(BSCL2):c.549G>A (p.Val183=)
|
rs1234761680
|
|
NM_001122955.4(BSCL2):c.571T>C (p.Leu191=)
|
rs2539154711
|
|
NM_001122955.4(BSCL2):c.612C>T (p.Ile204=)
|
rs1590872981
|
|
NM_001122955.4(BSCL2):c.618T>C (p.Thr206=)
|
|
|
NM_001122955.4(BSCL2):c.630+12_630+14del
|
rs1045195404
|
|
NM_001122955.4(BSCL2):c.630+15C>G
|
rs2539154471
|
|
NM_001122955.4(BSCL2):c.631-13C>T
|
|
|
NM_001122955.4(BSCL2):c.631-14C>T
|
|
|
NM_001122955.4(BSCL2):c.631-6C>G
|
rs768294248
|
|
NM_001122955.4(BSCL2):c.631-7C>A
|
rs1945347921
|
|
NM_001122955.4(BSCL2):c.631-9C>G
|
|
|
NM_001122955.4(BSCL2):c.631-9C>T
|
rs1245552202
|
|
NM_001122955.4(BSCL2):c.633G>A (p.Val211=)
|
rs2539150532
|
|
NM_001122955.4(BSCL2):c.633G>T (p.Val211=)
|
|
|
NM_001122955.4(BSCL2):c.675A>G (p.Thr225=)
|
rs2134696441
|
|
NM_001122955.4(BSCL2):c.675A>T (p.Thr225=)
|
rs2134696441
|
|
NM_001122955.4(BSCL2):c.678G>A (p.Leu226=)
|
rs2134696423
|
|
NM_001122955.4(BSCL2):c.735G>A (p.Val245=)
|
|
|
NM_001122955.4(BSCL2):c.747A>G (p.Ala249=)
|
rs2539150255
|
|
NM_001122955.4(BSCL2):c.759G>A (p.Glu253=)
|
|
|
NM_001122955.4(BSCL2):c.766-10C>G
|
rs367716875
|
|
NM_001122955.4(BSCL2):c.768C>T (p.Tyr256=)
|
rs746544677
|
|
NM_001122955.4(BSCL2):c.792T>C (p.Ile264=)
|
rs1590870663
|
|
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=)
|
rs998498207
|
|
NM_001122955.4(BSCL2):c.813C>T (p.Ile271=)
|
|
|
NM_001122955.4(BSCL2):c.816G>A (p.Gln272=)
|
rs2539149496
|
|
NM_001122955.4(BSCL2):c.819G>A (p.Leu273=)
|
|
|
NM_001122955.4(BSCL2):c.837C>T (p.Arg279=)
|
|
|
NM_001122955.4(BSCL2):c.863+10del
|
rs2134695116
|
|
NM_001122955.4(BSCL2):c.863+14T>C
|
rs2539149207
|
|
NM_001122955.4(BSCL2):c.864-13C>A
|
|
|
NM_001122955.4(BSCL2):c.864-9del
|
rs779432443
|
|
NM_001122955.4(BSCL2):c.873A>G (p.Leu291=)
|
|
|
NM_001122955.4(BSCL2):c.873A>T (p.Leu291=)
|
rs1245321041
|
|
NM_001122955.4(BSCL2):c.894C>T (p.Cys298=)
|
|
|
NM_001122955.4(BSCL2):c.897C>G (p.Ala299=)
|
|
|
NM_001122955.4(BSCL2):c.897C>T (p.Ala299=)
|
rs2134692099
|
|
NM_001122955.4(BSCL2):c.906T>G (p.Gly302=)
|
rs1590869477
|
|
NM_001122955.4(BSCL2):c.984C>G (p.Pro328=)
|
|
|
NM_001303256.3(MORC2):c.1038C>A (p.Ala346=)
|
rs199527803
|
|
NM_001303256.3(MORC2):c.1065C>G (p.Ala355=)
|
rs2517595421
|
|
NM_001303256.3(MORC2):c.1073+13C>G
|
rs1324713588
|
|
NM_001303256.3(MORC2):c.1073+15T>C
|
rs2517595329
|
|
NM_001303256.3(MORC2):c.1110T>C (p.Phe370=)
|
rs2517591142
|
|
NM_001303256.3(MORC2):c.1140T>C (p.Asp380=)
|
rs2517590985
|
|
NM_001303256.3(MORC2):c.1152C>T (p.Ile384=)
|
rs1246103819
|
|
NM_001303256.3(MORC2):c.1170G>A (p.Leu390=)
|
rs760073653
|
|
NM_001303256.3(MORC2):c.1209G>T (p.Gly403=)
|
rs2040682718
|
|
NM_001303256.3(MORC2):c.1214+10del
|
rs2147257013
|
|
NM_001303256.3(MORC2):c.1214+16A>G
|
|
|
NM_001303256.3(MORC2):c.1215-14_1215-13del
|
rs764119871
|
|
NM_001303256.3(MORC2):c.1215-18T>A
|
|
|
NM_001303256.3(MORC2):c.1215-8C>T
|
rs2517590260
|
|
NM_001303256.3(MORC2):c.123-14_123-10del
|
rs2040973478
|
|
NM_001303256.3(MORC2):c.123-15C>A
|
rs2517639097
|
|
NM_001303256.3(MORC2):c.123-6T>C
|
rs2147303586
|
|
NM_001303256.3(MORC2):c.126T>C (p.Asp42=)
|
rs2040973309
|
|
NM_001303256.3(MORC2):c.129T>C (p.Ala43=)
|
rs2147303532
|
|
NM_001303256.3(MORC2):c.1370-19A>T
|
rs764688244
|
|
NM_001303256.3(MORC2):c.1370-9G>A
|
|
|
NM_001303256.3(MORC2):c.1383C>T (p.Ile461=)
|
rs2040674864
|
|
NM_001303256.3(MORC2):c.138C>T (p.Thr46=)
|
|
|
NM_001303256.3(MORC2):c.1491C>T (p.Ile497=)
|
rs2147255441
|
|
NM_001303256.3(MORC2):c.1498+10G>T
|
|
|
NM_001303256.3(MORC2):c.1498+15T>C
|
rs1391630172
|
|
NM_001303256.3(MORC2):c.1498+20C>A
|
|
|
NM_001303256.3(MORC2):c.1499-19G>A
|
rs368857982
|
|
NM_001303256.3(MORC2):c.1499-19G>T
|
|
|
NM_001303256.3(MORC2):c.1501T>C (p.Leu501=)
|
rs775818503
|
|
NM_001303256.3(MORC2):c.157+10G>A
|
rs2040972918
|
|
NM_001303256.3(MORC2):c.157+14T>G
|
|
|
NM_001303256.3(MORC2):c.157+20T>C
|
|
|
NM_001303256.3(MORC2):c.158-13G>A
|
|
|
NM_001303256.3(MORC2):c.158-5T>C
|
rs764556739
|
|
NM_001303256.3(MORC2):c.158-9C>T
|
rs2517625180
|
|
NM_001303256.3(MORC2):c.1587T>C (p.Pro529=)
|
|
|
NM_001303256.3(MORC2):c.1604+16A>G
|
|
|
NM_001303256.3(MORC2):c.1604+17A>G
|
rs1160128189
|
|
NM_001303256.3(MORC2):c.1605-20G>A
|
rs780764692
|
|
NM_001303256.3(MORC2):c.1617T>C (p.Ser539=)
|
rs758400894
|
|
NM_001303256.3(MORC2):c.1632G>A (p.Lys544=)
|
|
|
NM_001303256.3(MORC2):c.1737+8G>A
|
rs758418910
|
|
NM_001303256.3(MORC2):c.1738-15A>G
|
|
|
NM_001303256.3(MORC2):c.1738-15_1738-13del
|
rs780936393
|
|
NM_001303256.3(MORC2):c.1738-19_1738-17del
|
rs745345406
|
|
NM_001303256.3(MORC2):c.1777T>C (p.Leu593=)
|
|
|
NM_001303256.3(MORC2):c.1797C>A (p.Thr599=)
|
rs2147249788
|
|
NM_001303256.3(MORC2):c.1812+14G>A
|
rs371904598
|
|
NM_001303256.3(MORC2):c.1812+14G>C
|
rs371904598
|
|
NM_001303256.3(MORC2):c.1812+17T>C
|
rs1397297158
|
|
NM_001303256.3(MORC2):c.1812+17T>G
|
rs1397297158
|
|
NM_001303256.3(MORC2):c.1813-16G>T
|
rs369929815
|
|
NM_001303256.3(MORC2):c.1866C>A (p.Ile622=)
|
rs904568914
|
|
NM_001303256.3(MORC2):c.1890T>G (p.Pro630=)
|
rs780961511
|
|
NM_001303256.3(MORC2):c.1929G>A (p.Lys643=)
|
rs1555937681
|
|
NM_001303256.3(MORC2):c.1995T>C (p.Ser665=)
|
rs1331830441
|
|
NM_001303256.3(MORC2):c.2019A>G (p.Ala673=)
|
|
|
NM_001303256.3(MORC2):c.2022C>T (p.Pro674=)
|
rs1438417919
|
|
NM_001303256.3(MORC2):c.2046C>T (p.Val682=)
|
|
|
NM_001303256.3(MORC2):c.2049G>A (p.Lys683=)
|
rs1285431715
|
|
NM_001303256.3(MORC2):c.2052T>A (p.Thr684=)
|
|
|
NM_001303256.3(MORC2):c.2052T>G (p.Thr684=)
|
|
|
NM_001303256.3(MORC2):c.2067C>T (p.Ala689=)
|
rs2517579467
|
|
NM_001303256.3(MORC2):c.2097A>G (p.Leu699=)
|
rs760570473
|
|
NM_001303256.3(MORC2):c.2142C>T (p.Val714=)
|
rs2517579088
|
|
NM_001303256.3(MORC2):c.2193+12G>T
|
rs367657160
|
|
NM_001303256.3(MORC2):c.2194-4C>G
|
rs756087774
|
|
NM_001303256.3(MORC2):c.2194-7G>C
|
rs1299926814
|
|
NM_001303256.3(MORC2):c.226+12G>A
|
rs2147286507
|
|
NM_001303256.3(MORC2):c.2265G>A (p.Arg755=)
|
rs2517576241
|
|
NM_001303256.3(MORC2):c.227-16G>T
|
rs1412400934
|
|
NM_001303256.3(MORC2):c.2271G>A (p.Glu757=)
|
|
|
NM_001303256.3(MORC2):c.2292T>C (p.Phe764=)
|
rs1396767941
|
|
NM_001303256.3(MORC2):c.2316C>T (p.Asp772=)
|
rs1174370013
|
|
NM_001303256.3(MORC2):c.2319G>A (p.Ser773=)
|
rs377574758
|
|
NM_001303256.3(MORC2):c.2319G>C (p.Ser773=)
|
rs377574758
|
|
NM_001303256.3(MORC2):c.2325+11G>A
|
rs2040617030
|
|
NM_001303256.3(MORC2):c.2326-10C>G
|
rs779612677
|
|
NM_001303256.3(MORC2):c.2326-19T>C
|
rs1324766713
|
|
NM_001303256.3(MORC2):c.2361C>T (p.Asp787=)
|
rs766384151
|
|
NM_001303256.3(MORC2):c.2364C>T (p.Leu788=)
|
rs761189043
|
|
NM_001303256.3(MORC2):c.2380+14G>A
|
|
|
NM_001303256.3(MORC2):c.2380+16G>A
|
rs568871593
|
|
NM_001303256.3(MORC2):c.2380+16G>C
|
rs568871593
|
|
NM_001303256.3(MORC2):c.2380+16G>T
|
rs568871593
|
|
NM_001303256.3(MORC2):c.2380+7T>A
|
rs1474616899
|
|
NM_001303256.3(MORC2):c.2380+8G>A
|
|
|
NM_001303256.3(MORC2):c.2388G>T (p.Gly796=)
|
rs2147242521
|
|
NM_001303256.3(MORC2):c.2400G>A (p.Glu800=)
|
|
|
NM_001303256.3(MORC2):c.2427G>A (p.Thr809=)
|
rs1329098333
|
|
NM_001303256.3(MORC2):c.2433T>C (p.Arg811=)
|
rs2517571264
|
|
NM_001303256.3(MORC2):c.2466G>A (p.Val822=)
|
rs2040597200
|
|
NM_001303256.3(MORC2):c.2469G>T (p.Arg823=)
|
rs41279971
|
|
NM_001303256.3(MORC2):c.2522+17G>A
|
rs199686987
|
|
NM_001303256.3(MORC2):c.2523-14T>C
|
|
|
NM_001303256.3(MORC2):c.2523-21_2523-20del
|
rs2040594639
|
|
NM_001303256.3(MORC2):c.2529G>A (p.Glu843=)
|
|
|
NM_001303256.3(MORC2):c.252T>C (p.Phe84=)
|
|
|
NM_001303256.3(MORC2):c.2535C>A (p.Gly845=)
|
rs548088557
|
|
NM_001303256.3(MORC2):c.2535C>T (p.Gly845=)
|
rs548088557
|
|
NM_001303256.3(MORC2):c.2571G>A (p.Pro857=)
|
|
|
NM_001303256.3(MORC2):c.2622C>T (p.Gly874=)
|
rs2517569805
|
|
NM_001303256.3(MORC2):c.2649C>G (p.Val883=)
|
|
|
NM_001303256.3(MORC2):c.2667C>G (p.Ser889=)
|
rs565441094
|
|
NM_001303256.3(MORC2):c.2685G>A (p.Glu895=)
|
rs371685129
|
|
NM_001303256.3(MORC2):c.2730G>C (p.Leu910=)
|
rs11549247
|
|
NM_001303256.3(MORC2):c.2747+14_2747+15del
|
|
|
NM_001303256.3(MORC2):c.2747+19T>C
|
rs1453840865
|
|
NM_001303256.3(MORC2):c.2748-6_2748-4del
|
rs1407551364
|
|
NM_001303256.3(MORC2):c.2751T>C (p.Asn917=)
|
rs1231700799
|
|
NM_001303256.3(MORC2):c.2847G>A (p.Glu949=)
|
rs1285225047
|
|
NM_001303256.3(MORC2):c.2949C>T (p.Ser983=)
|
rs372404658
|
|
NM_001303256.3(MORC2):c.2967G>A (p.Glu989=)
|
|
|
NM_001303256.3(MORC2):c.3030+19C>G
|
rs2517556353
|
|
NM_001303256.3(MORC2):c.3030+9G>A
|
|
|
NM_001303256.3(MORC2):c.3030+9_3030+10delinsTT
|
rs2147229073
|
|
NM_001303256.3(MORC2):c.3031-15C>A
|
rs764985949
|
|
NM_001303256.3(MORC2):c.3031-9C>G
|
rs558377610
|
|
NM_001303256.3(MORC2):c.3031-9C>T
|
rs558377610
|
|
NM_001303256.3(MORC2):c.3081C>A (p.Leu1027=)
|
rs149110760
|
|
NM_001303256.3(MORC2):c.309G>A (p.Gly103=)
|
rs372357681
|
|
NM_001303256.3(MORC2):c.318-20C>T
|
rs775311093
|
|
NM_001303256.3(MORC2):c.318-9C>G
|
rs2147276921
|
|
NM_001303256.3(MORC2):c.354C>T (p.Phe118=)
|
rs772064769
|
|
NM_001303256.3(MORC2):c.357C>T (p.Thr119=)
|
|
|
NM_001303256.3(MORC2):c.366A>G (p.Glu122=)
|
rs2147276762
|
|
NM_001303256.3(MORC2):c.426+8C>A
|
rs2040815046
|
|
NM_001303256.3(MORC2):c.438A>G (p.Pro146=)
|
|
|
NM_001303256.3(MORC2):c.441G>A (p.Leu147=)
|
rs932731801
|
|
NM_001303256.3(MORC2):c.441G>C (p.Leu147=)
|
rs932731801
|
|
NM_001303256.3(MORC2):c.444C>A (p.Pro148=)
|
|
|
NM_001303256.3(MORC2):c.462C>A (p.Thr154=)
|
rs191382105
|
|
NM_001303256.3(MORC2):c.525C>T (p.Tyr175=)
|
|
|
NM_001303256.3(MORC2):c.558C>G (p.Thr186=)
|
|
|
NM_001303256.3(MORC2):c.55C>T (p.Leu19=)
|
|
|
NM_001303256.3(MORC2):c.587-15A>G
|
|
|
NM_001303256.3(MORC2):c.587-9G>C
|
|
|
NM_001303256.3(MORC2):c.592T>C (p.Leu198=)
|
rs1373986357
|
|
NM_001303256.3(MORC2):c.612C>T (p.Leu204=)
|
rs139327383
|
|
NM_001303256.3(MORC2):c.624T>C (p.Asp208=)
|
rs2040747878
|
|
NM_001303256.3(MORC2):c.627T>C (p.Asn209=)
|
rs369521098
|
|
NM_001303256.3(MORC2):c.642A>G (p.Leu214=)
|
rs2147266472
|
|
NM_001303256.3(MORC2):c.672G>A (p.Gln224=)
|
|
|
NM_001303256.3(MORC2):c.68+19C>T
|
rs1272140890
|
|
NM_001303256.3(MORC2):c.69-14A>G
|
rs2147308787
|
|
NM_001303256.3(MORC2):c.69-15dup
|
rs2517643507
|
|
NM_001303256.3(MORC2):c.69-18T>C
|
rs2041001396
|
|
NM_001303256.3(MORC2):c.69-8C>A
|
|
|
NM_001303256.3(MORC2):c.69-9T>A
|
rs1417557049
|
|
NM_001303256.3(MORC2):c.698+10G>T
|
rs1408208849
|
|
NM_001303256.3(MORC2):c.698+14G>A
|
|
|
NM_001303256.3(MORC2):c.699-10C>A
|
rs2040742510
|
|
NM_001303256.3(MORC2):c.699-10C>T
|
|
|
NM_001303256.3(MORC2):c.733G>A (p.Ala245Thr)
|
rs771884588
|
|
NM_001303256.3(MORC2):c.765C>T (p.Ile255=)
|
rs1183694071
|
|
NM_001303256.3(MORC2):c.804C>A (p.Ser268=)
|
rs1317196061
|
|
NM_001303256.3(MORC2):c.813G>T (p.Leu271=)
|
rs2517601704
|
|
NM_001303256.3(MORC2):c.816C>T (p.Tyr272=)
|
|
|
NM_001303256.3(MORC2):c.825-7T>C
|
rs2147263953
|
|
NM_001303256.3(MORC2):c.825-8C>T
|
rs2517600233
|
|
NM_001303256.3(MORC2):c.834G>A (p.Lys278=)
|
rs2147263929
|
|
NM_001303256.3(MORC2):c.873G>A (p.Glu291=)
|
|
|
NM_001303256.3(MORC2):c.898A>C (p.Arg300=)
|
rs2147263715
|
|
NM_001303256.3(MORC2):c.904+15G>A
|
rs2517599743
|
|
NM_001303256.3(MORC2):c.904+7C>G
|
rs2040731723
|
|
NM_001303256.3(MORC2):c.905-14C>T
|
|
|
NM_001303256.3(MORC2):c.905-20T>C
|
|
|
NM_001303256.3(MORC2):c.905-40_905-19del
|
rs1181853352
|
|
NM_001303256.3(MORC2):c.933C>T (p.Ser311=)
|
|
|
NM_001303256.3(MORC2):c.946T>C (p.Leu316=)
|
rs762989183
|
|
NM_001303256.3(MORC2):c.969C>T (p.Asp323=)
|
rs199973357
|
|
NM_001303256.3(MORC2):c.987+10del
|
rs1569193635
|
|
NM_001303256.3(MORC2):c.987+13C>T
|
|
|
NM_001303256.3(MORC2):c.987+19C>A
|
rs769036771
|
|
NM_001303256.3(MORC2):c.987+19C>T
|
rs769036771
|
|
NM_001303256.3(MORC2):c.988-6G>A
|
rs2040712545
|
|
NM_001303256.3(MORC2):c.996G>A (p.Leu332=)
|
|
|
NM_001365951.3(KIF1B):c.1008C>T (p.Ile336=)
|
rs2521162511
|
|
NM_001365951.3(KIF1B):c.1037+16C>G
|
rs2521163328
|
|
NM_001365951.3(KIF1B):c.1037+7dup
|
rs750151168
|
|
NM_001365951.3(KIF1B):c.1038-18T>C
|
rs2521195770
|
|
NM_001365951.3(KIF1B):c.1038-20A>C
|
rs748084087
|
|
NM_001365951.3(KIF1B):c.1044A>G (p.Ala348=)
|
rs2102225536
|
|
NM_001365951.3(KIF1B):c.106+19C>T
|
rs2523353202
|
|
NM_001365951.3(KIF1B):c.1065A>G (p.Lys355=)
|
rs1360448809
|
|
NM_001365951.3(KIF1B):c.107-15A>G
|
rs2523453948
|
|
NM_001365951.3(KIF1B):c.107-19A>C
|
rs2523453854
|
|
NM_001365951.3(KIF1B):c.1152T>C (p.Arg384=)
|
rs2102225734
|
|
NM_001365951.3(KIF1B):c.1173T>C (p.Ile391=)
|
rs1649213355
|
|
NM_001365951.3(KIF1B):c.117C>T (p.Asn39=)
|
rs2102181683
|
|
NM_001365951.3(KIF1B):c.126T>C (p.Asn42=)
|
|
|
NM_001365951.3(KIF1B):c.1283C>T (p.Pro428Leu)
|
rs771375467
|
|
NM_001365951.3(KIF1B):c.1288C>T (p.His430Tyr)
|
rs1011811468
|
|
NM_001365951.3(KIF1B):c.1305C>T (p.Ser435=)
|
rs1649454373
|
|
NM_001365951.3(KIF1B):c.1323A>T (p.Ser441=)
|
rs2102232709
|
|
NM_001365951.3(KIF1B):c.1383A>G (p.Gln461=)
|
rs1649460480
|
|
NM_001365951.3(KIF1B):c.1434+9T>G
|
rs770024434
|
|
NM_001365951.3(KIF1B):c.1435-11T>G
|
rs375781577
|
|
NM_001365951.3(KIF1B):c.1435-14G>A
|
rs762855486
|
|
NM_001365951.3(KIF1B):c.1446G>A (p.Lys482=)
|
rs1348600720
|
|
NM_001365951.3(KIF1B):c.1482G>A (p.Lys494=)
|
rs1569728146
|
|
NM_001365951.3(KIF1B):c.1514+13A>T
|
rs1389588552
|
|
NM_001365951.3(KIF1B):c.1514+17C>A
|
|
|
NM_001365951.3(KIF1B):c.1514+17C>T
|
rs2521348915
|
|
NM_001365951.3(KIF1B):c.1515-18T>G
|
rs375149695
|
|
NM_001365951.3(KIF1B):c.1533G>A (p.Glu511=)
|
rs764996552
|
|
NM_001365951.3(KIF1B):c.1554A>G (p.Glu518=)
|
rs2102249352
|
|
NM_001365951.3(KIF1B):c.1563A>G (p.Gly521=)
|
rs2102249374
|
|
NM_001365951.3(KIF1B):c.1567C>T (p.Leu523=)
|
rs2521358377
|
|
NM_001365951.3(KIF1B):c.1590+10_1590+11del
|
rs926073433
|
|
NM_001365951.3(KIF1B):c.1590+8A>G
|
rs1168139281
|
|
NM_001365951.3(KIF1B):c.1590+9C>T
|
rs2521358763
|
|
NM_001365951.3(KIF1B):c.1593C>A (p.Thr531=)
|
rs1169685877
|
|
NM_001365951.3(KIF1B):c.1608C>T (p.Asn536=)
|
rs2102255177
|
|
NM_001365951.3(KIF1B):c.1620C>T (p.Asp540=)
|
rs2521384692
|
|
NM_001365951.3(KIF1B):c.1624C>T (p.Leu542=)
|
rs1557694736
|
|
NM_001365951.3(KIF1B):c.1668A>G (p.Thr556=)
|
rs1453382306
|
|
NM_001365951.3(KIF1B):c.1670+15T>C
|
rs2102255291
|
|
NM_001365951.3(KIF1B):c.1671-14dup
|
|
|
NM_001365951.3(KIF1B):c.1671-6G>A
|
rs1420466491
|
|
NM_001365951.3(KIF1B):c.1719G>T (p.Gly573=)
|
rs755619758
|
|
NM_001365951.3(KIF1B):c.1731A>G (p.Lys577=)
|
rs2521390981
|
|
NM_001365951.3(KIF1B):c.1746C>A (p.Ile582=)
|
rs1163136523
|
|
NM_001365951.3(KIF1B):c.1750C>A (p.Arg584=)
|
rs897688174
|
|
NM_001365951.3(KIF1B):c.1777+14G>A
|
rs750048938
|
|
NM_001365951.3(KIF1B):c.1777+7A>G
|
rs367898139
|
|
NM_001365951.3(KIF1B):c.1778-14T>C
|
rs2102258072
|
|
NM_001365951.3(KIF1B):c.1778-17G>A
|
rs1258653638
|
|
NM_001365951.3(KIF1B):c.1778-17G>T
|
rs1258653638
|
|
NM_001365951.3(KIF1B):c.183+13A>C
|
rs1647779753
|
|
NM_001365951.3(KIF1B):c.183+20dup
|
|
|
NM_001365951.3(KIF1B):c.184-18T>A
|
rs2102186523
|
|
NM_001365951.3(KIF1B):c.184-7T>C
|
rs1337188909
|
|
NM_001365951.3(KIF1B):c.184-9T>G
|
|
|
NM_001365951.3(KIF1B):c.1861+12A>G
|
rs2521398481
|
|
NM_001365951.3(KIF1B):c.1861+7C>G
|
|
|
NM_001365951.3(KIF1B):c.1862-20A>G
|
rs751429277
|
|
NM_001365951.3(KIF1B):c.1862-7G>A
|
rs758079105
|
|
NM_001365951.3(KIF1B):c.1899C>T (p.Arg633=)
|
rs1310291443
|
|
NM_001365951.3(KIF1B):c.1911G>T (p.Pro637=)
|
rs138876135
|
|
NM_001365951.3(KIF1B):c.1914A>G (p.Glu638=)
|
rs1650296675
|
|
NM_001365951.3(KIF1B):c.1930C>A (p.Arg644=)
|
rs1195706897
|
|
NM_001365951.3(KIF1B):c.1950T>G (p.Ala650=)
|
rs776392893
|
|
NM_001365951.3(KIF1B):c.1968T>C (p.Pro656=)
|
rs1332046524
|
|
NM_001365951.3(KIF1B):c.1995G>A (p.Glu665=)
|
rs2102259202
|
|
NM_001365951.3(KIF1B):c.2042+15C>G
|
|
|
NM_001365951.3(KIF1B):c.2042+16G>C
|
rs1427727123
|
|
NM_001365951.3(KIF1B):c.2042+19G>A
|
rs2521403420
|
|
NM_001365951.3(KIF1B):c.2043-4C>T
|
rs771419523
|
|
NM_001365951.3(KIF1B):c.2043-9T>C
|
|
|
NM_001365951.3(KIF1B):c.2139C>T (p.Ala713=)
|
rs2102294111
|
|
NM_001365951.3(KIF1B):c.213C>T (p.Asn71=)
|
rs765503412
|
|
NM_001365951.3(KIF1B):c.2148G>A (p.Lys716=)
|
|
|
NM_001365951.3(KIF1B):c.2209+13G>T
|
rs1557711899
|
|
NM_001365951.3(KIF1B):c.2209+9T>G
|
rs2102294191
|
|
NM_001365951.3(KIF1B):c.2210-11C>A
|
rs2521606526
|
|
NM_001365951.3(KIF1B):c.2210-11C>T
|
|
|
NM_001365951.3(KIF1B):c.2210-13T>A
|
|
|
NM_001365951.3(KIF1B):c.2210-19G>T
|
|
|
NM_001365951.3(KIF1B):c.2226T>C (p.His742=)
|
rs1396632386
|
|
NM_001365951.3(KIF1B):c.2259A>G (p.Lys753=)
|
rs2521606981
|
|
NM_001365951.3(KIF1B):c.2310C>A (p.Ala770=)
|
rs749823391
|
|
NM_001365951.3(KIF1B):c.2343G>A (p.Val781=)
|
rs2521607756
|
|
NM_001365951.3(KIF1B):c.2358+12G>A
|
rs1356013143
|
|
NM_001365951.3(KIF1B):c.2358+12_2358+15dup
|
|
|
NM_001365951.3(KIF1B):c.2358+9C>T
|
rs1651536955
|
|
NM_001365951.3(KIF1B):c.2359-11T>C
|
rs2521621873
|
|
NM_001365951.3(KIF1B):c.2463T>A (p.Pro821=)
|
rs1651624435
|
|
NM_001365951.3(KIF1B):c.2466C>T (p.Arg822=)
|
rs753982918
|
|
NM_001365951.3(KIF1B):c.2472G>A (p.Val824=)
|
rs2102299017
|
|
NM_001365951.3(KIF1B):c.2538-19C>T
|
|
|
NM_001365951.3(KIF1B):c.2538-9A>G
|
rs1651661996
|
|
NM_001365951.3(KIF1B):c.2580G>A (p.Gly860=)
|
|
|
NM_001365951.3(KIF1B):c.2595T>C (p.Ser865=)
|
rs2521630074
|
|
NM_001365951.3(KIF1B):c.2622G>A (p.Val874=)
|
rs2102300248
|
|
NM_001365951.3(KIF1B):c.2647C>A (p.Arg883=)
|
rs2102300290
|
|
NM_001365951.3(KIF1B):c.2649G>A (p.Arg883=)
|
|
|
NM_001365951.3(KIF1B):c.2664A>G (p.Lys888=)
|
rs2102300309
|
|
NM_001365951.3(KIF1B):c.2675+18T>C
|
rs1651671330
|
|
NM_001365951.3(KIF1B):c.2676-6_2676-5del
|
rs2102301578
|
|
NM_001365951.3(KIF1B):c.2733C>T (p.Pro911=)
|
rs746863711
|
|
NM_001365951.3(KIF1B):c.2760C>T (p.Ile920=)
|
rs1557715655
|
|
NM_001365951.3(KIF1B):c.2850G>A (p.Glu950=)
|
rs1557715770
|
|
NM_001365951.3(KIF1B):c.285C>A (p.Ala95=)
|
rs12402052
|
|
NM_001365951.3(KIF1B):c.285C>T (p.Ala95=)
|
rs12402052
|
|
NM_001365951.3(KIF1B):c.2913T>A (p.Ile971=)
|
rs2521641580
|
|
NM_001365951.3(KIF1B):c.2924+16G>C
|
rs1651724607
|
|
NM_001365951.3(KIF1B):c.2924+18G>T
|
rs755946980
|
|
NM_001365951.3(KIF1B):c.2925-13T>C
|
rs2521699850
|
|
NM_001365951.3(KIF1B):c.2925-3del
|
rs756643992
|
|
NM_001365951.3(KIF1B):c.2940G>A (p.Leu980=)
|
rs1279435643
|
|
NM_001365951.3(KIF1B):c.2974A>C (p.Arg992=)
|
rs750405644
|
|
NM_001365951.3(KIF1B):c.3024G>A (p.Val1008=)
|
rs1306635496
|
|
NM_001365951.3(KIF1B):c.3036C>A (p.Ala1012=)
|
rs761319157
|
|
NM_001365951.3(KIF1B):c.3036C>T (p.Ala1012=)
|
rs761319157
|
|
NM_001365951.3(KIF1B):c.3043+11C>T
|
|
|
NM_001365951.3(KIF1B):c.3043+13C>T
|
rs930962794
|
|
NM_001365951.3(KIF1B):c.3043+16C>T
|
rs2521701278
|
|
NM_001365951.3(KIF1B):c.3044-15T>C
|
rs771795825
|
|
NM_001365951.3(KIF1B):c.3044-18T>A
|
rs779104704
|
|
NM_001365951.3(KIF1B):c.3066T>C (p.Tyr1022=)
|
rs138169811
|
|
NM_001365951.3(KIF1B):c.306A>G (p.Gly102=)
|
|
|
NM_001365951.3(KIF1B):c.3129+11G>A
|
rs201224213
|
|
NM_001365951.3(KIF1B):c.3129+16G>A
|
rs1372496078
|
|
NM_001365951.3(KIF1B):c.3130-11C>T
|
rs1652206804
|
|
NM_001365951.3(KIF1B):c.3130-18C>T
|
rs770501449
|
|
NM_001365951.3(KIF1B):c.3130-19G>A
|
rs2102315695
|
|
NM_001365951.3(KIF1B):c.3141G>A (p.Ser1047=)
|
rs754121148
|
|
NM_001365951.3(KIF1B):c.3141G>C (p.Ser1047=)
|
|
|
NM_001365951.3(KIF1B):c.3141G>T (p.Ser1047=)
|
rs754121148
|
|
NM_001365951.3(KIF1B):c.3180G>A (p.Glu1060=)
|
rs746693804
|
|
NM_001365951.3(KIF1B):c.3181T>C (p.Leu1061=)
|
rs2521719136
|
|
NM_001365951.3(KIF1B):c.3198A>T (p.Gly1066=)
|
rs372610670
|
|
NM_001365951.3(KIF1B):c.3201G>A (p.Gln1067=)
|
rs2521719292
|
|
NM_001365951.3(KIF1B):c.3259+16T>A
|
rs2521719916
|
|
NM_001365951.3(KIF1B):c.3324C>G (p.Gly1108=)
|
|
|
NM_001365951.3(KIF1B):c.3330C>T (p.His1110=)
|
rs2521721850
|
|
NM_001365951.3(KIF1B):c.3339G>T (p.Leu1113=)
|
rs2102316184
|
|
NM_001365951.3(KIF1B):c.333A>G (p.Gln111=)
|
rs2102186835
|
|
NM_001365951.3(KIF1B):c.3360A>C (p.Arg1120=)
|
rs2521722008
|
|
NM_001365951.3(KIF1B):c.3422+7T>C
|
|
|
NM_001365951.3(KIF1B):c.3423-6A>G
|
rs1434078275
|
|
NM_001365951.3(KIF1B):c.3423-8T>C
|
rs2521737557
|
|
NM_001365951.3(KIF1B):c.3456G>T (p.Thr1152=)
|
rs574168097
|
|
NM_001365951.3(KIF1B):c.3462C>T (p.Pro1154=)
|
rs1174469402
|
|
NM_001365951.3(KIF1B):c.3465C>T (p.Leu1155=)
|
rs2521737959
|
|
NM_001365951.3(KIF1B):c.348T>G (p.Ala116=)
|
rs1647936228
|
|
NM_001365951.3(KIF1B):c.3513+10A>G
|
rs773664561
|
|
NM_001365951.3(KIF1B):c.3513+9C>T
|
rs773566719
|
|
NM_001365951.3(KIF1B):c.3514-11C>T
|
rs2521751702
|
|
NM_001365951.3(KIF1B):c.3514-15_3514-14del
|
|
|
NM_001365951.3(KIF1B):c.3514-18A>G
|
rs749470280
|
|
NM_001365951.3(KIF1B):c.3514-7G>T
|
rs2102322317
|
|
NM_001365951.3(KIF1B):c.351C>T (p.Gly117=)
|
rs2523465986
|
|
NM_001365951.3(KIF1B):c.3528C>T (p.Ile1176=)
|
rs748616468
|
|
NM_001365951.3(KIF1B):c.3558C>G (p.Thr1186=)
|
rs1269011642
|
|
NM_001365951.3(KIF1B):c.3603A>G (p.Pro1201=)
|
rs2102322455
|
|
NM_001365951.3(KIF1B):c.3615A>G (p.Gln1205=)
|
|
|
NM_001365951.3(KIF1B):c.363+13A>G
|
|
|
NM_001365951.3(KIF1B):c.363+14C>G
|
rs2523466127
|
|
NM_001365951.3(KIF1B):c.363+17_363+18dup
|
rs775016794
|
|
NM_001365951.3(KIF1B):c.3632+8C>G
|
rs966317106
|
|
NM_001365951.3(KIF1B):c.3633-14T>C
|
rs2521760180
|
|
NM_001365951.3(KIF1B):c.3633-20T>G
|
rs2521760149
|
|
NM_001365951.3(KIF1B):c.364-15A>C
|
rs771929965
|
|
NM_001365951.3(KIF1B):c.3645G>C (p.Pro1215=)
|
rs147318592
|
|
NM_001365951.3(KIF1B):c.3654A>G (p.Arg1218=)
|
rs868389032
|
|
NM_001365951.3(KIF1B):c.3676C>T (p.Leu1226=)
|
rs2521760660
|
|
NM_001365951.3(KIF1B):c.3681C>T (p.Ser1227=)
|
rs991919721
|
|
NM_001365951.3(KIF1B):c.3684G>A (p.Lys1228=)
|
rs2102323785
|
|
NM_001365951.3(KIF1B):c.3688+10C>G
|
rs755222148
|
|
NM_001365951.3(KIF1B):c.3703T>C (p.Leu1235=)
|
rs760494824
|
|
NM_001365951.3(KIF1B):c.3738C>T (p.Ser1246=)
|
|
|
NM_001365951.3(KIF1B):c.3798-12del
|
rs2102328760
|
|
NM_001365951.3(KIF1B):c.3798-15G>A
|
rs766283700
|
|
NM_001365951.3(KIF1B):c.3798-15G>C
|
rs766283700
|
|
NM_001365951.3(KIF1B):c.3798-18T>C
|
rs1652637104
|
|
NM_001365951.3(KIF1B):c.3804C>T (p.Ile1268=)
|
rs994141495
|
|
NM_001365951.3(KIF1B):c.3825A>G (p.Thr1275=)
|
rs754717048
|
|
NM_001365951.3(KIF1B):c.3861T>C (p.His1287=)
|
rs2521792197
|
|
NM_001365951.3(KIF1B):c.3865-16C>T
|
|
|
NM_001365951.3(KIF1B):c.3867C>T (p.Gly1289=)
|
|
|
NM_001365951.3(KIF1B):c.3882C>T (p.Ile1294=)
|
rs1285366120
|
|
NM_001365951.3(KIF1B):c.3885A>G (p.Thr1295=)
|
rs139159572
|
|
NM_001365951.3(KIF1B):c.3891C>T (p.Thr1297=)
|
rs1652676723
|
|
NM_001365951.3(KIF1B):c.3900T>C (p.His1300=)
|
rs1487151059
|
|
NM_001365951.3(KIF1B):c.3903G>A (p.Glu1301=)
|
|
|
NM_001365951.3(KIF1B):c.3927A>G (p.Lys1309=)
|
rs773380588
|
|
NM_001365951.3(KIF1B):c.3949+18G>A
|
rs751132744
|
|
NM_001365951.3(KIF1B):c.3949+8C>T
|
|
|
NM_001365951.3(KIF1B):c.3949+9_3949+10dup
|
rs2521799634
|
|
NM_001365951.3(KIF1B):c.3987A>G (p.Ala1329=)
|
rs2521828155
|
|
NM_001365951.3(KIF1B):c.39G>A (p.Arg13=)
|
rs2523352669
|
|
NM_001365951.3(KIF1B):c.4029C>T (p.Tyr1343=)
|
rs749173046
|
|
NM_001365951.3(KIF1B):c.4030C>T (p.Leu1344=)
|
rs1557731851
|
|
NM_001365951.3(KIF1B):c.4044C>T (p.His1348=)
|
|
|
NM_001365951.3(KIF1B):c.4055+12A>C
|
rs2521828889
|
|
NM_001365951.3(KIF1B):c.4055+17A>G
|
|
|
NM_001365951.3(KIF1B):c.4056-19C>A
|
rs753780102
|
|
NM_001365951.3(KIF1B):c.4056-6C>A
|
rs754886872
|
|
NM_001365951.3(KIF1B):c.4074G>A (p.Glu1358=)
|
rs1291020748
|
|
NM_001365951.3(KIF1B):c.4110T>C (p.Leu1370=)
|
rs749776582
|
|
NM_001365951.3(KIF1B):c.4128C>T (p.Pro1376=)
|
rs148877444
|
|
NM_001365951.3(KIF1B):c.4146C>T (p.Tyr1382=)
|
|
|
NM_001365951.3(KIF1B):c.4152C>G (p.Thr1384=)
|
rs1638408043
|
|
NM_001365951.3(KIF1B):c.4167A>C (p.Leu1389=)
|
rs1638408619
|
|
NM_001365951.3(KIF1B):c.4167A>T (p.Leu1389=)
|
rs1638408619
|
|
NM_001365951.3(KIF1B):c.4170+17C>G
|
rs2521878974
|
|
NM_001365951.3(KIF1B):c.4171-14C>G
|
|
|
NM_001365951.3(KIF1B):c.4171-15C>A
|
|
|
NM_001365951.3(KIF1B):c.4171-7C>T
|
|
|
NM_001365951.3(KIF1B):c.4173G>C (p.Leu1391=)
|
rs2102345529
|
|
NM_001365951.3(KIF1B):c.4221C>A (p.Val1407=)
|
rs762919959
|
|
NM_001365951.3(KIF1B):c.4231C>A (p.Arg1411=)
|
|
|
NM_001365951.3(KIF1B):c.4263G>C (p.Leu1421=)
|
rs2102345665
|
|
NM_001365951.3(KIF1B):c.429+13G>T
|
rs199792028
|
|
NM_001365951.3(KIF1B):c.429+17G>A
|
|
|
NM_001365951.3(KIF1B):c.429+6dup
|
rs2102194280
|
|
NM_001365951.3(KIF1B):c.430-9del
|
rs771477893
|
|
NM_001365951.3(KIF1B):c.4304+14A>G
|
rs2102345754
|
|
NM_001365951.3(KIF1B):c.4305-20G>A
|
rs1279066873
|
|
NM_001365951.3(KIF1B):c.4305-20G>C
|
rs1279066873
|
|
NM_001365951.3(KIF1B):c.4335C>T (p.Ser1445=)
|
|
|
NM_001365951.3(KIF1B):c.4366+17T>G
|
rs2521898372
|
|
NM_001365951.3(KIF1B):c.4367-11T>C
|
|
|
NM_001365951.3(KIF1B):c.4367-15T>C
|
rs2102349800
|
|
NM_001365951.3(KIF1B):c.4367-5C>T
|
rs2102349814
|
|
NM_001365951.3(KIF1B):c.4367-9_4367-8del
|
rs760020005
|
|
NM_001365951.3(KIF1B):c.4392C>T (p.Ile1464=)
|
rs2521911027
|
|
NM_001365951.3(KIF1B):c.4401G>C (p.Thr1467=)
|
rs754692148
|
|
NM_001365951.3(KIF1B):c.4413T>C (p.Tyr1471=)
|
rs2102349869
|
|
NM_001365951.3(KIF1B):c.4416G>A (p.Val1472=)
|
rs1638532279
|
|
NM_001365951.3(KIF1B):c.4428G>A (p.Glu1476=)
|
rs1167221385
|
|
NM_001365951.3(KIF1B):c.4449C>G (p.Pro1483=)
|
rs2102349912
|
|
NM_001365951.3(KIF1B):c.4479G>A (p.Gln1493=)
|
rs1638533963
|
|
NM_001365951.3(KIF1B):c.4512+11G>A
|
rs1638535318
|
|
NM_001365951.3(KIF1B):c.4512+15G>C
|
rs1638535500
|
|
NM_001365951.3(KIF1B):c.4512+16del
|
rs559364887
|
|
NM_001365951.3(KIF1B):c.4512+9_4512+12dup
|
rs2521912264
|
|
NM_001365951.3(KIF1B):c.4513-16G>A
|
|
|
NM_001365951.3(KIF1B):c.4513-20A>G
|
rs1344150193
|
|
NM_001365951.3(KIF1B):c.4560C>T (p.Asp1520=)
|
rs2521914053
|
|
NM_001365951.3(KIF1B):c.4587G>A (p.Ser1529=)
|
rs763558438
|
|
NM_001365951.3(KIF1B):c.4623C>T (p.Thr1541=)
|
rs1415477397
|
|
NM_001365951.3(KIF1B):c.4647C>T (p.Ile1549=)
|
rs1380710611
|
|
NM_001365951.3(KIF1B):c.4680T>C (p.Pro1560=)
|
rs2521915764
|
|
NM_001365951.3(KIF1B):c.4692T>C (p.Ser1564=)
|
rs2102350508
|
|
NM_001365951.3(KIF1B):c.4713C>T (p.Ile1571=)
|
rs750386624
|
|
NM_001365951.3(KIF1B):c.474G>T (p.Leu158=)
|
rs1648529329
|
|
NM_001365951.3(KIF1B):c.4752+11C>T
|
rs2521916446
|
|
NM_001365951.3(KIF1B):c.4752+14C>T
|
rs373335011
|
|
NM_001365951.3(KIF1B):c.4753-16T>C
|
rs754807277
|
|
NM_001365951.3(KIF1B):c.4753-4T>A
|
rs2102354385
|
|
NM_001365951.3(KIF1B):c.4753-6_4753-4del
|
rs2102354381
|
|
NM_001365951.3(KIF1B):c.4761A>G (p.Gln1587=)
|
rs960083901
|
|
NM_001365951.3(KIF1B):c.4776T>G (p.Thr1592=)
|
rs757529397
|
|
NM_001365951.3(KIF1B):c.4824+16_4824+17del
|
rs764397992
|
|
NM_001365951.3(KIF1B):c.4824+9A>G
|
rs2521935107
|
|
NM_001365951.3(KIF1B):c.4920C>T (p.Asp1640=)
|
rs1403107697
|
|
NM_001365951.3(KIF1B):c.4946+9C>A
|
rs72867431
|
|
NM_001365951.3(KIF1B):c.4947-13_4947-10del
|
rs1191986983
|
|
NM_001365951.3(KIF1B):c.4947-6T>G
|
|
|
NM_001365951.3(KIF1B):c.4977T>C (p.Ser1659=)
|
rs778240671
|
|
NM_001365951.3(KIF1B):c.498G>A (p.Leu166=)
|
rs2521041962
|
|
NM_001365951.3(KIF1B):c.5013A>T (p.Pro1671=)
|
rs2521977779
|
|
NM_001365951.3(KIF1B):c.5022A>G (p.Glu1674=)
|
rs768715079
|
|
NM_001365951.3(KIF1B):c.5096+13T>C
|
rs2521978866
|
|
NM_001365951.3(KIF1B):c.5096+7A>G
|
rs781575666
|
|
NM_001365951.3(KIF1B):c.5097-20T>C
|
rs2102363216
|
|
NM_001365951.3(KIF1B):c.5130C>T (p.Phe1710=)
|
rs750816496
|
|
NM_001365951.3(KIF1B):c.513C>T (p.His171=)
|
rs777318699
|
|
NM_001365951.3(KIF1B):c.5145C>T (p.Tyr1715=)
|
rs2521982376
|
|
NM_001365951.3(KIF1B):c.5223G>A (p.Glu1741=)
|
rs1441330290
|
|
NM_001365951.3(KIF1B):c.5301C>G (p.Thr1767=)
|
rs11121552
|
|
NM_001365951.3(KIF1B):c.5313C>T (p.Cys1771=)
|
rs1489037154
|
|
NM_001365951.3(KIF1B):c.5373G>A (p.Leu1791=)
|
|
|
NM_001365951.3(KIF1B):c.5408+11TTG[4]
|
rs371033478
|
|
NM_001365951.3(KIF1B):c.5408+11TTG[7]
|
rs371033478
|
|
NM_001365951.3(KIF1B):c.5408+13G>T
|
rs1638854124
|
|
NM_001365951.3(KIF1B):c.5408+18T>C
|
rs2521987487
|
|
NM_001365951.3(KIF1B):c.5408+19G>A
|
rs2521987503
|
|
NM_001365951.3(KIF1B):c.543G>C (p.Leu181=)
|
rs2521042604
|
|
NM_001365951.3(KIF1B):c.546C>T (p.Ser182=)
|
|
|
NM_001365951.3(KIF1B):c.549G>A (p.Lys183=)
|
rs1308362049
|
|
NM_001365951.3(KIF1B):c.567C>T (p.Tyr189=)
|
rs748370435
|
|
NM_001365951.3(KIF1B):c.606C>G (p.Ala202=)
|
rs766873320
|
|
NM_001365951.3(KIF1B):c.609-6A>G
|
rs1276227203
|
|
NM_001365951.3(KIF1B):c.609-8T>A
|
rs2102206798
|
|
NM_001365951.3(KIF1B):c.720+17C>A
|
rs1339458
|
|
NM_001365951.3(KIF1B):c.720+8A>G
|
rs751246033
|
|
NM_001365951.3(KIF1B):c.750A>C (p.Ala250=)
|
rs2102213217
|
|
NM_001365951.3(KIF1B):c.777T>C (p.Gly259=)
|
rs2102213262
|
|
NM_001365951.3(KIF1B):c.798+14C>G
|
rs2521098099
|
|
NM_001365951.3(KIF1B):c.799-20A>G
|
rs749729457
|
|
NM_001365951.3(KIF1B):c.799-6_799-2del
|
rs2102214337
|
|
NM_001365951.3(KIF1B):c.834G>A (p.Leu278=)
|
rs1430088037
|
|
NM_001365951.3(KIF1B):c.864+13C>T
|
rs2521107909
|
|
NM_001365951.3(KIF1B):c.883-10_883-7del
|
rs886044975
|
|
NM_001365951.3(KIF1B):c.883-15C>T
|
rs1397719362
|
|
NM_001365951.3(KIF1B):c.883-19A>G
|
|
|
NM_001365951.3(KIF1B):c.883-20C>T
|
rs2521148137
|
|
NM_001365951.3(KIF1B):c.883-8T>C
|
rs777974241
|
|
NM_001365951.3(KIF1B):c.93A>G (p.Gln31=)
|
rs765851262
|
|
NM_001365951.3(KIF1B):c.942C>T (p.Leu314=)
|
rs1060504381
|
|
NM_001365951.3(KIF1B):c.959-16T>C
|
|
|
NM_001365951.3(KIF1B):c.959-17A>C
|
|
|
NM_001365951.3(KIF1B):c.959-7T>A
|
|
|
NM_001365951.3(KIF1B):c.993G>A (p.Leu331=)
|
rs2102222302
|
|
NM_001376.5(DYNC1H1):c.10014C>T (p.Ile3338=)
|
rs2503819844
|
|
NM_001376.5(DYNC1H1):c.10017C>T (p.Arg3339=)
|
rs1175746508
|
|
NM_001376.5(DYNC1H1):c.1003C>T (p.Leu335=)
|
|
|
NM_001376.5(DYNC1H1):c.10041C>T (p.Phe3347=)
|
rs2503819905
|
|
NM_001376.5(DYNC1H1):c.10074G>A (p.Glu3358=)
|
rs2048519857
|
|
NM_001376.5(DYNC1H1):c.10079+12G>A
|
rs2503820063
|
|
NM_001376.5(DYNC1H1):c.10079+17G>C
|
rs2048520171
|
|
NM_001376.5(DYNC1H1):c.10079+20A>G
|
|
|
NM_001376.5(DYNC1H1):c.10079+8del
|
rs2503820043
|
|
NM_001376.5(DYNC1H1):c.10079+9G>A
|
|
|
NM_001376.5(DYNC1H1):c.10080-11G>T
|
|
|
NM_001376.5(DYNC1H1):c.10080-13T>C
|
|
|
NM_001376.5(DYNC1H1):c.10080-15A>G
|
|
|
NM_001376.5(DYNC1H1):c.10083C>A (p.Asp3361Glu)
|
rs772665813
|
|
NM_001376.5(DYNC1H1):c.10084G>T (p.Ala3362Ser)
|
rs113879661
|
|
NM_001376.5(DYNC1H1):c.10103A>G (p.Lys3368Arg)
|
rs1356616117
|
|
NM_001376.5(DYNC1H1):c.10107A>G (p.Lys3369=)
|
|
|
NM_001376.5(DYNC1H1):c.1011A>G (p.Lys337=)
|
rs2047887107
|
|
NM_001376.5(DYNC1H1):c.10137T>C (p.Tyr3379=)
|
rs2152591684
|
|
NM_001376.5(DYNC1H1):c.10143T>A (p.Ile3381=)
|
rs1281508808
|
|
NM_001376.5(DYNC1H1):c.10143T>G (p.Ile3381Met)
|
rs1281508808
|
|
NM_001376.5(DYNC1H1):c.10167C>T (p.Cys3389=)
|
rs1445980535
|
|
NM_001376.5(DYNC1H1):c.10194A>G (p.Ala3398=)
|
|
|
NM_001376.5(DYNC1H1):c.10197+13G>C
|
rs2503823140
|
|
NM_001376.5(DYNC1H1):c.10197+16A>G
|
rs969439801
|
|
NM_001376.5(DYNC1H1):c.10197+20G>T
|
|
|
NM_001376.5(DYNC1H1):c.10197+6dup
|
rs1292102708
|
|
NM_001376.5(DYNC1H1):c.10198-18T>C
|
|
|
NM_001376.5(DYNC1H1):c.10198-4C>A
|
rs1555411389
|
|
NM_001376.5(DYNC1H1):c.10198-8C>A
|
rs2503823365
|
|
NM_001376.5(DYNC1H1):c.10200T>G (p.Leu3400=)
|
rs1171513480
|
|
NM_001376.5(DYNC1H1):c.1021C>T (p.Leu341=)
|
rs2503685406
|
|
NM_001376.5(DYNC1H1):c.10224A>G (p.Arg3408=)
|
rs2048531474
|
|
NM_001376.5(DYNC1H1):c.10255C>T (p.Leu3419=)
|
rs2503823626
|
|
NM_001376.5(DYNC1H1):c.10257G>A (p.Leu3419=)
|
|
|
NM_001376.5(DYNC1H1):c.10266C>T (p.Asp3422=)
|
rs775112499
|
|
NM_001376.5(DYNC1H1):c.10305G>A (p.Gln3435=)
|
rs1298729937
|
|
NM_001376.5(DYNC1H1):c.10320G>A (p.Leu3440=)
|
rs886050371
|
|
NM_001376.5(DYNC1H1):c.10335C>G (p.Ala3445=)
|
rs2048532774
|
|
NM_001376.5(DYNC1H1):c.10344G>A (p.Lys3448=)
|
rs2503823915
|
|
NM_001376.5(DYNC1H1):c.10359C>A (p.Val3453=)
|
|
|
NM_001376.5(DYNC1H1):c.10359C>G (p.Val3453=)
|
rs2503823961
|
|
NM_001376.5(DYNC1H1):c.10365C>T (p.Ile3455=)
|
rs2503823979
|
|
NM_001376.5(DYNC1H1):c.1038T>C (p.Ser346=)
|
|
|
NM_001376.5(DYNC1H1):c.10392C>T (p.Asp3464=)
|
rs2152591828
|
|
NM_001376.5(DYNC1H1):c.10395G>A (p.Leu3465=)
|
rs2503824081
|
|
NM_001376.5(DYNC1H1):c.10405G>A (p.Glu3469Lys)
|
rs2503824109
|
|
NM_001376.5(DYNC1H1):c.10407G>A (p.Glu3469=)
|
rs2503824117
|
|
NM_001376.5(DYNC1H1):c.10413+17T>G
|
rs2503824159
|
|
NM_001376.5(DYNC1H1):c.10414-18G>A
|
rs1193180301
|
|
NM_001376.5(DYNC1H1):c.1041C>T (p.Ala347=)
|
rs745838810
|
|
NM_001376.5(DYNC1H1):c.10431T>G (p.Ala3477=)
|
|
|
NM_001376.5(DYNC1H1):c.10458T>C (p.Arg3486=)
|
rs1220261271
|
|
NM_001376.5(DYNC1H1):c.10473A>C (p.Lys3491Asn)
|
rs201109134
|
|
NM_001376.5(DYNC1H1):c.1047G>A (p.Glu349=)
|
|
|
NM_001376.5(DYNC1H1):c.10503C>T (p.Ser3501=)
|
rs2048542113
|
|
NM_001376.5(DYNC1H1):c.10524C>G (p.Leu3508=)
|
rs931807854
|
|
NM_001376.5(DYNC1H1):c.10524C>T (p.Leu3508=)
|
rs931807854
|
|
NM_001376.5(DYNC1H1):c.1055A>G (p.Lys352Arg)
|
|
|
NM_001376.5(DYNC1H1):c.10563C>T (p.Asp3521=)
|
|
|
NM_001376.5(DYNC1H1):c.10581C>T (p.Asn3527=)
|
|
|
NM_001376.5(DYNC1H1):c.10626+12G>A
|
rs751897147
|
|
NM_001376.5(DYNC1H1):c.10626+12G>T
|
rs751897147
|
|
NM_001376.5(DYNC1H1):c.10626+20C>G
|
rs2048543902
|
|
NM_001376.5(DYNC1H1):c.10627-18A>G
|
|
|
NM_001376.5(DYNC1H1):c.10650G>C (p.Thr3550=)
|
rs143068719
|
|
NM_001376.5(DYNC1H1):c.10665T>C (p.Asn3555=)
|
|
|
NM_001376.5(DYNC1H1):c.10666G>C (p.Ala3556Pro)
|
rs752337704
|
|
NM_001376.5(DYNC1H1):c.10674G>A (p.Glu3558=)
|
rs2503827171
|
|
NM_001376.5(DYNC1H1):c.10680T>G (p.Leu3560=)
|
rs2503827193
|
|
NM_001376.5(DYNC1H1):c.1068G>C (p.Ala356=)
|
rs772254712
|
|
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly)
|
rs2048546542
|
|
NM_001376.5(DYNC1H1):c.10698C>G (p.Ser3566=)
|
rs2152592329
|
|
NM_001376.5(DYNC1H1):c.10725A>G (p.Glu3575=)
|
rs2152592336
|
|
NM_001376.5(DYNC1H1):c.1074T>A (p.Val358=)
|
|
|
NM_001376.5(DYNC1H1):c.10754+14T>C
|
rs2503827528
|
|
NM_001376.5(DYNC1H1):c.10755-13G>A
|
rs2152593611
|
|
NM_001376.5(DYNC1H1):c.10755-9C>T
|
rs778936862
|
|
NM_001376.5(DYNC1H1):c.10761G>A (p.Pro3587=)
|
rs762678471
|
|
NM_001376.5(DYNC1H1):c.10764G>C (p.Leu3588=)
|
rs879716271
|
|
NM_001376.5(DYNC1H1):c.10776C>T (p.Pro3592=)
|
rs2048577208
|
|
NM_001376.5(DYNC1H1):c.10809A>G (p.Glu3603=)
|
rs772324981
|
|
NM_001376.5(DYNC1H1):c.10854C>T (p.Ala3618=)
|
rs1471925009
|
|
NM_001376.5(DYNC1H1):c.10875T>C (p.Ser3625=)
|
rs2503835844
|
|
NM_001376.5(DYNC1H1):c.10878A>G (p.Ala3626=)
|
rs1407178236
|
|
NM_001376.5(DYNC1H1):c.10878A>T (p.Ala3626=)
|
rs1407178236
|
|
NM_001376.5(DYNC1H1):c.10896C>G (p.Pro3632=)
|
rs200903643
|
|
NM_001376.5(DYNC1H1):c.10908+13C>T
|
rs756959195
|
|
NM_001376.5(DYNC1H1):c.10908+16T>C
|
rs2503836118
|
|
NM_001376.5(DYNC1H1):c.10908+20T>C
|
rs1379197118
|
|
NM_001376.5(DYNC1H1):c.10908+23_10908+50del
|
rs2503836127
|
|
NM_001376.5(DYNC1H1):c.10908+9T>C
|
rs2152593706
|
|
NM_001376.5(DYNC1H1):c.10909-14C>T
|
rs2048603403
|
|
NM_001376.5(DYNC1H1):c.10909-18del
|
|
|
NM_001376.5(DYNC1H1):c.10938C>T (p.Asn3646=)
|
rs2503842512
|
|
NM_001376.5(DYNC1H1):c.10952G>A (p.Arg3651His)
|
rs763516982
|
|
NM_001376.5(DYNC1H1):c.10965A>C (p.Arg3655=)
|
rs1595629172
|
|
NM_001376.5(DYNC1H1):c.10968A>G (p.Thr3656=)
|
|
|
NM_001376.5(DYNC1H1):c.10974G>C (p.Gly3658=)
|
rs750210648
|
|
NM_001376.5(DYNC1H1):c.10987A>T (p.Thr3663Ser)
|
rs200204286
|
|
NM_001376.5(DYNC1H1):c.10989T>A (p.Thr3663=)
|
rs1197064629
|
|
NM_001376.5(DYNC1H1):c.11013G>T (p.Leu3671=)
|
|
|
NM_001376.5(DYNC1H1):c.11026G>A (p.Val3676Ile)
|
rs1470749260
|
|
NM_001376.5(DYNC1H1):c.11043C>G (p.Thr3681=)
|
|
|
NM_001376.5(DYNC1H1):c.11055+12G>C
|
rs2503843001
|
|
NM_001376.5(DYNC1H1):c.11055+7A>C
|
rs2503842989
|
|
NM_001376.5(DYNC1H1):c.11056-12C>T
|
rs1316439716
|
|
NM_001376.5(DYNC1H1):c.11056-18T>G
|
rs1388035142
|
|
NM_001376.5(DYNC1H1):c.11056-19C>T
|
rs971995928
|
|
NM_001376.5(DYNC1H1):c.11056-4G>A
|
rs1347112549
|
|
NM_001376.5(DYNC1H1):c.11082C>G (p.Ser3694=)
|
rs1595629338
|
|
NM_001376.5(DYNC1H1):c.11097A>T (p.Val3699=)
|
rs2152594828
|
|
NM_001376.5(DYNC1H1):c.11115T>C (p.Arg3705=)
|
|
|
NM_001376.5(DYNC1H1):c.1113A>G (p.Lys371=)
|
|
|
NM_001376.5(DYNC1H1):c.11163A>G (p.Arg3721=)
|
|
|
NM_001376.5(DYNC1H1):c.1116T>C (p.Tyr372=)
|
rs1328724513
|
|
NM_001376.5(DYNC1H1):c.11170G>A (p.Val3724Met)
|
rs1264422999
|
|
NM_001376.5(DYNC1H1):c.11178G>A (p.Glu3726=)
|
|
|
NM_001376.5(DYNC1H1):c.11190T>C (p.Asp3730=)
|
rs2503843656
|
|
NM_001376.5(DYNC1H1):c.11207-11A>G
|
rs2503844213
|
|
NM_001376.5(DYNC1H1):c.11207-13T>G
|
rs2503844194
|
|
NM_001376.5(DYNC1H1):c.11207-16_11207-13dup
|
|
|
NM_001376.5(DYNC1H1):c.11207-19del
|
|
|
NM_001376.5(DYNC1H1):c.11207-20G>C
|
rs1187651671
|
|
NM_001376.5(DYNC1H1):c.11207-6T>C
|
rs2048610808
|
|
NM_001376.5(DYNC1H1):c.11250A>G (p.Leu3750=)
|
rs2503844397
|
|
NM_001376.5(DYNC1H1):c.11257C>T (p.Leu3753=)
|
rs2503844415
|
|
NM_001376.5(DYNC1H1):c.1128G>A (p.Arg376=)
|
rs2141272353
|
|
NM_001376.5(DYNC1H1):c.11298C>T (p.Ile3766=)
|
|
|
NM_001376.5(DYNC1H1):c.11313G>A (p.Glu3771=)
|
rs2152594963
|
|
NM_001376.5(DYNC1H1):c.11316C>T (p.Asn3772=)
|
rs2503844537
|
|
NM_001376.5(DYNC1H1):c.11317C>T (p.Leu3773=)
|
rs2503844542
|
|
NM_001376.5(DYNC1H1):c.11325A>G (p.Arg3775=)
|
|
|
NM_001376.5(DYNC1H1):c.11343C>T (p.Thr3781=)
|
|
|
NM_001376.5(DYNC1H1):c.11346G>A (p.Arg3782=)
|
rs2152594975
|
|
NM_001376.5(DYNC1H1):c.1134G>A (p.Leu378=)
|
rs2503685727
|
|
NM_001376.5(DYNC1H1):c.11365A>G (p.Ile3789Val)
|
rs1177877033
|
|
NM_001376.5(DYNC1H1):c.11367T>C (p.Ile3789=)
|
rs2503844705
|
|
NM_001376.5(DYNC1H1):c.11370C>T (p.Val3790=)
|
rs2152594986
|
|
NM_001376.5(DYNC1H1):c.11374C>A (p.Gln3792Lys)
|
|
|
NM_001376.5(DYNC1H1):c.11385G>T (p.Glu3795Asp)
|
|
|
NM_001376.5(DYNC1H1):c.11388C>G (p.Thr3796=)
|
rs149806996
|
|
NM_001376.5(DYNC1H1):c.11408C>G (p.Pro3803Arg)
|
rs571126286
|
|
NM_001376.5(DYNC1H1):c.11409G>T (p.Pro3803=)
|
rs17512783
|
|
NM_001376.5(DYNC1H1):c.11412C>G (p.Leu3804=)
|
rs2503844871
|
|
NM_001376.5(DYNC1H1):c.11415C>T (p.Ser3805=)
|
rs2048613390
|
|
NM_001376.5(DYNC1H1):c.11418C>T (p.Thr3806=)
|
rs753103486
|
|
NM_001376.5(DYNC1H1):c.11421C>G (p.Ala3807=)
|
rs1218037946
|
|
NM_001376.5(DYNC1H1):c.11421C>T (p.Ala3807=)
|
rs1218037946
|
|
NM_001376.5(DYNC1H1):c.11430C>T (p.Ser3810=)
|
rs746492866
|
|
NM_001376.5(DYNC1H1):c.11442C>T (p.Thr3814=)
|
rs1264641232
|
|
NM_001376.5(DYNC1H1):c.11457G>A (p.Lys3819=)
|
rs756719644
|
|
NM_001376.5(DYNC1H1):c.11460+11T>C
|
rs745475274
|
|
NM_001376.5(DYNC1H1):c.11460+17T>C
|
|
|
NM_001376.5(DYNC1H1):c.11460+19C>T
|
rs991283375
|
|
NM_001376.5(DYNC1H1):c.11460+20A>G
|
rs2152595035
|
|
NM_001376.5(DYNC1H1):c.11460+8C>T
|
rs2048614092
|
|
NM_001376.5(DYNC1H1):c.11461-16C>T
|
rs2048616742
|
|
NM_001376.5(DYNC1H1):c.11461-8C>T
|
|
|
NM_001376.5(DYNC1H1):c.1149A>G (p.Ala383=)
|
rs537306885
|
|
NM_001376.5(DYNC1H1):c.1150A>G (p.Ile384Val)
|
rs762636220
|
|
NM_001376.5(DYNC1H1):c.11517C>T (p.Val3839=)
|
rs2503846238
|
|
NM_001376.5(DYNC1H1):c.11532G>T (p.Pro3844=)
|
rs372511563
|
|
NM_001376.5(DYNC1H1):c.11535C>T (p.Asn3845=)
|
rs2503846305
|
|
NM_001376.5(DYNC1H1):c.11543G>A (p.Gly3848Asp)
|
rs754712755
|
|
NM_001376.5(DYNC1H1):c.11553C>T (p.Asp3851=)
|
rs2152595164
|
|
NM_001376.5(DYNC1H1):c.11565C>T (p.Arg3855=)
|
rs1555411851
|
|
NM_001376.5(DYNC1H1):c.11575A>G (p.Ile3859Val)
|
rs774754180
|
|
NM_001376.5(DYNC1H1):c.11580A>G (p.Thr3860=)
|
rs1037733409
|
|
NM_001376.5(DYNC1H1):c.11581A>G (p.Lys3861Glu)
|
rs370974731
|
|
NM_001376.5(DYNC1H1):c.1158A>G (p.Arg386=)
|
rs567247522
|
|
NM_001376.5(DYNC1H1):c.11595+10G>A
|
rs2048618961
|
|
NM_001376.5(DYNC1H1):c.11595+7_11595+10del
|
rs2503846572
|
|
NM_001376.5(DYNC1H1):c.11596-12C>T
|
rs2503847113
|
|
NM_001376.5(DYNC1H1):c.11596-16C>A
|
rs371990625
|
|
NM_001376.5(DYNC1H1):c.11596-20G>C
|
|
|
NM_001376.5(DYNC1H1):c.11596-20G>T
|
rs372623721
|
|
NM_001376.5(DYNC1H1):c.11600C>T (p.Ala3867Val)
|
rs757163052
|
|
NM_001376.5(DYNC1H1):c.11619A>G (p.Arg3873=)
|
|
|
NM_001376.5(DYNC1H1):c.11640C>T (p.His3880=)
|
rs1781918386
|
|
NM_001376.5(DYNC1H1):c.11643T>C (p.Ile3881=)
|
rs2152595289
|
|
NM_001376.5(DYNC1H1):c.11682C>T (p.Gly3894=)
|
rs747437862
|
|
NM_001376.5(DYNC1H1):c.11690+12C>T
|
rs1405537007
|
|
NM_001376.5(DYNC1H1):c.11690+13_11690+14insAA
|
rs1337653913
|
|
NM_001376.5(DYNC1H1):c.11690+14C>G
|
rs762481812
|
|
NM_001376.5(DYNC1H1):c.11690+19_11690+65dup
|
rs2152595337
|
|
NM_001376.5(DYNC1H1):c.11690+9A>G
|
rs764598650
|
|
NM_001376.5(DYNC1H1):c.11691-12C>G
|
rs920796743
|
|
NM_001376.5(DYNC1H1):c.11691-12C>T
|
rs920796743
|
|
NM_001376.5(DYNC1H1):c.11691-14T>C
|
|
|
NM_001376.5(DYNC1H1):c.11691-14dup
|
rs753190279
|
|
NM_001376.5(DYNC1H1):c.11691-18C>T
|
rs2503849873
|
|
NM_001376.5(DYNC1H1):c.11691-4G>A
|
rs201810550
|
|
NM_001376.5(DYNC1H1):c.11691-5C>T
|
rs983608957
|
|
NM_001376.5(DYNC1H1):c.11691-8C>G
|
rs2503849976
|
|
NM_001376.5(DYNC1H1):c.11706T>C (p.Asp3902=)
|
rs2048631022
|
|
NM_001376.5(DYNC1H1):c.11710G>C (p.Glu3904Gln)
|
rs1194676358
|
|
NM_001376.5(DYNC1H1):c.11745C>T (p.Val3915=)
|
rs2152595623
|
|
NM_001376.5(DYNC1H1):c.11762C>G (p.Thr3921Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11766C>T (p.Pro3922=)
|
rs2503850285
|
|
NM_001376.5(DYNC1H1):c.1179C>A (p.Leu393=)
|
rs780971776
|
|
NM_001376.5(DYNC1H1):c.1179C>G (p.Leu393=)
|
rs780971776
|
|
NM_001376.5(DYNC1H1):c.11800G>T (p.Ala3934Ser)
|
|
|
NM_001376.5(DYNC1H1):c.11801C>T (p.Ala3934Val)
|
rs751780173
|
|
NM_001376.5(DYNC1H1):c.11802G>A (p.Ala3934=)
|
rs151307859
|
|
NM_001376.5(DYNC1H1):c.11802G>C (p.Ala3934=)
|
rs151307859
|
|
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met)
|
rs780676515
|
|
NM_001376.5(DYNC1H1):c.11806G>T (p.Val3936Leu)
|
rs780676515
|
|
NM_001376.5(DYNC1H1):c.11820C>T (p.Cys3940=)
|
rs2152595687
|
|
NM_001376.5(DYNC1H1):c.11823T>C (p.Leu3941=)
|
rs368243780
|
|
NM_001376.5(DYNC1H1):c.11828C>A (p.Ala3943Glu)
|
rs759566577
|
|
NM_001376.5(DYNC1H1):c.11829G>A (p.Ala3943=)
|
rs2048633653
|
|
NM_001376.5(DYNC1H1):c.11850G>T (p.Lys3950Asn)
|
|
|
NM_001376.5(DYNC1H1):c.11858C>T (p.Ala3953Val)
|
rs1319152853
|
|
NM_001376.5(DYNC1H1):c.1185A>G (p.Val395=)
|
rs762711724
|
|
NM_001376.5(DYNC1H1):c.11865+10C>G
|
rs750746553
|
|
NM_001376.5(DYNC1H1):c.11865+6dup
|
|
|
NM_001376.5(DYNC1H1):c.11865+7G>A
|
rs2152595723
|
|
NM_001376.5(DYNC1H1):c.11866-10G>A
|
rs1595630757
|
|
NM_001376.5(DYNC1H1):c.11866-15C>T
|
rs774559021
|
|
NM_001376.5(DYNC1H1):c.11866-20T>C
|
rs765311022
|
|
NM_001376.5(DYNC1H1):c.11866-4A>G
|
rs766735095
|
|
NM_001376.5(DYNC1H1):c.11866-6C>T
|
rs2503851557
|
|
NM_001376.5(DYNC1H1):c.11892C>T (p.Ser3964=)
|
rs757869882
|
|
NM_001376.5(DYNC1H1):c.11898G>A (p.Pro3966=)
|
rs777166781
|
|
NM_001376.5(DYNC1H1):c.11906C>A (p.Thr3969Asn)
|
rs770525695
|
|
NM_001376.5(DYNC1H1):c.11925T>C (p.Ser3975=)
|
|
|
NM_001376.5(DYNC1H1):c.11928A>G (p.Glu3976=)
|
rs1567021944
|
|
NM_001376.5(DYNC1H1):c.11941+13G>A
|
rs2152595867
|
|
NM_001376.5(DYNC1H1):c.11941+15G>A
|
rs2152595869
|
|
NM_001376.5(DYNC1H1):c.11941+19_11941+20dup
|
rs1295744868
|
|
NM_001376.5(DYNC1H1):c.11941+20T>A
|
|
|
NM_001376.5(DYNC1H1):c.11941+8C>A
|
|
|
NM_001376.5(DYNC1H1):c.11942-13G>A
|
|
|
NM_001376.5(DYNC1H1):c.11942-17C>T
|
rs2503855374
|
|
NM_001376.5(DYNC1H1):c.11942-18C>T
|
rs373289883
|
|
NM_001376.5(DYNC1H1):c.11942-19C>G
|
rs2152596244
|
|
NM_001376.5(DYNC1H1):c.11942-4dup
|
rs2503855430
|
|
NM_001376.5(DYNC1H1):c.11943A>T (p.Thr3981=)
|
rs1595631341
|
|
NM_001376.5(DYNC1H1):c.11946C>T (p.Pro3982=)
|
rs1387430195
|
|
NM_001376.5(DYNC1H1):c.11955G>A (p.Gln3985=)
|
rs2152596258
|
|
NM_001376.5(DYNC1H1):c.11985T>G (p.Ala3995=)
|
rs2503855619
|
|
NM_001376.5(DYNC1H1):c.12009C>T (p.Ala4003=)
|
rs776781193
|
|
NM_001376.5(DYNC1H1):c.1200A>G (p.Lys400=)
|
rs2503685895
|
|
NM_001376.5(DYNC1H1):c.12045G>T (p.Glu4015Asp)
|
rs1203128797
|
|
NM_001376.5(DYNC1H1):c.12047C>A (p.Ser4016Tyr)
|
rs370026529
|
|
NM_001376.5(DYNC1H1):c.12057C>T (p.Ser4019=)
|
rs201290175
|
|
NM_001376.5(DYNC1H1):c.12071C>T (p.Pro4024Leu)
|
rs879254308
|
|
NM_001376.5(DYNC1H1):c.12084C>A (p.Thr4028=)
|
|
|
NM_001376.5(DYNC1H1):c.12084C>G (p.Thr4028=)
|
rs1446298826
|
|
NM_001376.5(DYNC1H1):c.120G>A (p.Leu40=)
|
rs1199888248
|
|
NM_001376.5(DYNC1H1):c.12102+17G>T
|
rs2048652921
|
|
NM_001376.5(DYNC1H1):c.12103-17G>A
|
rs1452779410
|
|
NM_001376.5(DYNC1H1):c.12103-20T>G
|
rs2503857336
|
|
NM_001376.5(DYNC1H1):c.12108G>A (p.Lys4036=)
|
rs2503857470
|
|
NM_001376.5(DYNC1H1):c.12114C>T (p.Asn4038=)
|
rs1595631712
|
|
NM_001376.5(DYNC1H1):c.12117T>G (p.Thr4039=)
|
|
|
NM_001376.5(DYNC1H1):c.12156T>C (p.Ser4052=)
|
rs1060504511
|
|
NM_001376.5(DYNC1H1):c.12165C>G (p.Val4055=)
|
rs753386602
|
|
NM_001376.5(DYNC1H1):c.12180C>A (p.Ala4060=)
|
rs754694929
|
|
NM_001376.5(DYNC1H1):c.12180C>G (p.Ala4060=)
|
rs754694929
|
|
NM_001376.5(DYNC1H1):c.1218T>C (p.Tyr406=)
|
rs748221878
|
|
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)
|
rs750249796
|
|
NM_001376.5(DYNC1H1):c.12192G>A (p.Thr4064=)
|
rs114906811
|
|
NM_001376.5(DYNC1H1):c.12214+13G>A
|
rs1362075028
|
|
NM_001376.5(DYNC1H1):c.12214+20T>G
|
rs200763934
|
|
NM_001376.5(DYNC1H1):c.12214+9G>C
|
|
|
NM_001376.5(DYNC1H1):c.12215-10C>T
|
rs371777460
|
|
NM_001376.5(DYNC1H1):c.12215-18T>C
|
rs2503858229
|
|
NM_001376.5(DYNC1H1):c.12215-7G>A
|
rs2503858284
|
|
NM_001376.5(DYNC1H1):c.12215-8T>C
|
|
|
NM_001376.5(DYNC1H1):c.12215-9C>T
|
rs755152554
|
|
NM_001376.5(DYNC1H1):c.1221A>G (p.Glu407=)
|
rs2503685958
|
|
NM_001376.5(DYNC1H1):c.12240A>C (p.Ala4080=)
|
rs2503858347
|
|
NM_001376.5(DYNC1H1):c.12264A>C (p.Val4088=)
|
rs1041126638
|
|
NM_001376.5(DYNC1H1):c.12275+10T>C
|
rs2503858532
|
|
NM_001376.5(DYNC1H1):c.12275+12C>T
|
rs2503858539
|
|
NM_001376.5(DYNC1H1):c.12275+12_12275+16dup
|
rs2152596594
|
|
NM_001376.5(DYNC1H1):c.12275+7C>A
|
rs778316869
|
|
NM_001376.5(DYNC1H1):c.12275+9G>C
|
rs569139993
|
|
NM_001376.5(DYNC1H1):c.12276-11T>C
|
rs1008735664
|
|
NM_001376.5(DYNC1H1):c.12276-18C>G
|
rs752930546
|
|
NM_001376.5(DYNC1H1):c.12276-20C>T
|
rs2503858721
|
|
NM_001376.5(DYNC1H1):c.12276-5T>C
|
rs1555412076
|
|
NM_001376.5(DYNC1H1):c.12282G>C (p.Val4094=)
|
rs2503858851
|
|
NM_001376.5(DYNC1H1):c.12306C>G (p.Ala4102=)
|
|
|
NM_001376.5(DYNC1H1):c.12306C>T (p.Ala4102=)
|
rs2152596640
|
|
NM_001376.5(DYNC1H1):c.12312G>T (p.Gly4104=)
|
rs573819401
|
|
NM_001376.5(DYNC1H1):c.12318G>C (p.Leu4106=)
|
rs1595631998
|
|
NM_001376.5(DYNC1H1):c.1233+10A>G
|
rs2503686074
|
|
NM_001376.5(DYNC1H1):c.1233+8T>G
|
rs2503686070
|
|
NM_001376.5(DYNC1H1):c.1234-19T>G
|
rs2503686307
|
|
NM_001376.5(DYNC1H1):c.12372C>T (p.Leu4124=)
|
|
|
NM_001376.5(DYNC1H1):c.12399+10T>G
|
rs1033442950
|
|
NM_001376.5(DYNC1H1):c.12399+12_12399+14del
|
rs2503859402
|
|
NM_001376.5(DYNC1H1):c.12399+14G>A
|
|
|
NM_001376.5(DYNC1H1):c.12399+8_12399+11del
|
rs2503859362
|
|
NM_001376.5(DYNC1H1):c.12400-11C>G
|
rs766486300
|
|
NM_001376.5(DYNC1H1):c.12400-12G>T
|
rs371395881
|
|
NM_001376.5(DYNC1H1):c.12400-15G>C
|
rs376286033
|
|
NM_001376.5(DYNC1H1):c.12400-20G>A
|
rs2503859838
|
|
NM_001376.5(DYNC1H1):c.12400-5C>T
|
rs2503859928
|
|
NM_001376.5(DYNC1H1):c.12400-9C>G
|
|
|
NM_001376.5(DYNC1H1):c.12402G>T (p.Val4134=)
|
rs763056344
|
|
NM_001376.5(DYNC1H1):c.12408G>A (p.Val4136=)
|
rs2503859978
|
|
NM_001376.5(DYNC1H1):c.12412C>G (p.Leu4138Val)
|
rs144282707
|
|
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)
|
rs770451110
|
|
NM_001376.5(DYNC1H1):c.12427C>T (p.Arg4143Cys)
|
rs1316357429
|
|
NM_001376.5(DYNC1H1):c.12432C>T (p.Ile4144=)
|
rs1567022785
|
|
NM_001376.5(DYNC1H1):c.12441C>G (p.Phe4147Leu)
|
rs146075696
|
|
NM_001376.5(DYNC1H1):c.12456G>C (p.Gly4152=)
|
|
|
NM_001376.5(DYNC1H1):c.12480G>T (p.Thr4160=)
|
rs531519870
|
|
NM_001376.5(DYNC1H1):c.12485G>T (p.Ser4162Ile)
|
rs754437318
|
|
NM_001376.5(DYNC1H1):c.124C>T (p.Leu42=)
|
|
|
NM_001376.5(DYNC1H1):c.12503G>A (p.Arg4168Gln)
|
rs1468120172
|
|
NM_001376.5(DYNC1H1):c.12513+10T>A
|
|
|
NM_001376.5(DYNC1H1):c.12513+15C>G
|
|
|
NM_001376.5(DYNC1H1):c.12513+5G>C
|
rs2048667462
|
|
NM_001376.5(DYNC1H1):c.12513+6dup
|
rs1449974341
|
|
NM_001376.5(DYNC1H1):c.12513+7_12513+11del
|
rs2048667510
|
|
NM_001376.5(DYNC1H1):c.12513+8C>T
|
rs1277617348
|
|
NM_001376.5(DYNC1H1):c.12547C>T (p.Leu4183=)
|
rs2503865522
|
|
NM_001376.5(DYNC1H1):c.12561T>C (p.His4187=)
|
rs2152597466
|
|
NM_001376.5(DYNC1H1):c.12566T>A (p.Ile4189Asn)
|
|
|
NM_001376.5(DYNC1H1):c.12583C>A (p.Arg4195=)
|
|
|
NM_001376.5(DYNC1H1):c.12597G>A (p.Leu4199=)
|
rs781114938
|
|
NM_001376.5(DYNC1H1):c.12612G>A (p.Lys4204=)
|
rs756074780
|
|
NM_001376.5(DYNC1H1):c.12621T>C (p.Phe4207=)
|
rs2503865745
|
|
NM_001376.5(DYNC1H1):c.12624A>C (p.Gly4208=)
|
|
|
NM_001376.5(DYNC1H1):c.12624A>G (p.Gly4208=)
|
rs2048683951
|
|
NM_001376.5(DYNC1H1):c.12633C>T (p.Asp4211=)
|
rs749270078
|
|
NM_001376.5(DYNC1H1):c.12660C>T (p.Asp4220=)
|
rs2503865909
|
|
NM_001376.5(DYNC1H1):c.12663G>T (p.Thr4221=)
|
rs145849008
|
|
NM_001376.5(DYNC1H1):c.1266T>C (p.Thr422=)
|
rs1288014241
|
|
NM_001376.5(DYNC1H1):c.12678G>A (p.Thr4226=)
|
rs370256973
|
|
NM_001376.5(DYNC1H1):c.12684+14A>T
|
rs200392758
|
|
NM_001376.5(DYNC1H1):c.12685-10C>A
|
rs2048687645
|
|
NM_001376.5(DYNC1H1):c.12685-17T>C
|
|
|
NM_001376.5(DYNC1H1):c.12685-9C>T
|
rs1226238990
|
|
NM_001376.5(DYNC1H1):c.12744C>T (p.Ala4248=)
|
rs2152597755
|
|
NM_001376.5(DYNC1H1):c.12762G>A (p.Gly4254=)
|
rs746049414
|
|
NM_001376.5(DYNC1H1):c.12765C>G (p.Arg4255=)
|
|
|
NM_001376.5(DYNC1H1):c.12766G>A (p.Val4256Met)
|
rs376420321
|
|
NM_001376.5(DYNC1H1):c.12807G>A (p.Leu4269=)
|
rs956656785
|
|
NM_001376.5(DYNC1H1):c.12814C>T (p.Leu4272=)
|
|
|
NM_001376.5(DYNC1H1):c.12855A>G (p.Ala4285=)
|
rs2503867836
|
|
NM_001376.5(DYNC1H1):c.12856T>C (p.Cys4286Arg)
|
|
|
NM_001376.5(DYNC1H1):c.12869G>A (p.Gly4290Glu)
|
rs1555412242
|
|
NM_001376.5(DYNC1H1):c.12870A>C (p.Gly4290=)
|
rs2503867896
|
|
NM_001376.5(DYNC1H1):c.12888G>A (p.Met4296Ile)
|
rs1392473036
|
|
NM_001376.5(DYNC1H1):c.12903-11T>C
|
|
|
NM_001376.5(DYNC1H1):c.12903-13A>G
|
rs2503868279
|
|
NM_001376.5(DYNC1H1):c.12904C>A (p.Arg4302=)
|
rs2503868308
|
|
NM_001376.5(DYNC1H1):c.12939C>A (p.Pro4313=)
|
rs151172467
|
|
NM_001376.5(DYNC1H1):c.12950C>T (p.Thr4317Met)
|
rs774296708
|
|
NM_001376.5(DYNC1H1):c.12954C>G (p.Pro4318=)
|
rs766459266
|
|
NM_001376.5(DYNC1H1):c.12996T>A (p.Leu4332=)
|
rs752979249
|
|
NM_001376.5(DYNC1H1):c.1299G>A (p.Leu433=)
|
rs1566997875
|
|
NM_001376.5(DYNC1H1):c.13006+12G>A
|
rs757756908
|
|
NM_001376.5(DYNC1H1):c.13007-13_13007-6del
|
rs1567025161
|
|
NM_001376.5(DYNC1H1):c.13007-16_13007-15del
|
rs2503880328
|
|
NM_001376.5(DYNC1H1):c.13007-22_13007-17del
|
rs769833151
|
|
NM_001376.5(DYNC1H1):c.13014C>T (p.Asp4338=)
|
rs200400317
|
|
NM_001376.5(DYNC1H1):c.13030C>T (p.Leu4344=)
|
rs2152600128
|
|
NM_001376.5(DYNC1H1):c.13060G>T (p.Asp4354Tyr)
|
rs1449580462
|
|
NM_001376.5(DYNC1H1):c.13068C>A (p.Ala4356=)
|
rs775757476
|
|
NM_001376.5(DYNC1H1):c.13074A>T (p.Ala4358=)
|
rs2503880624
|
|
NM_001376.5(DYNC1H1):c.13092G>A (p.Thr4364=)
|
rs756654668
|
|
NM_001376.5(DYNC1H1):c.13095G>A (p.Arg4365=)
|
|
|
NM_001376.5(DYNC1H1):c.13106C>T (p.Thr4369Met)
|
rs1290022379
|
|
NM_001376.5(DYNC1H1):c.13137A>G (p.Thr4379=)
|
rs150172431
|
|
NM_001376.5(DYNC1H1):c.13137A>T (p.Thr4379=)
|
rs150172431
|
|
NM_001376.5(DYNC1H1):c.13173C>T (p.Ile4391=)
|
rs556009462
|
|
NM_001376.5(DYNC1H1):c.13176C>T (p.Pro4392=)
|
rs766805479
|
|
NM_001376.5(DYNC1H1):c.13182G>T (p.Thr4394=)
|
rs754395575
|
|
NM_001376.5(DYNC1H1):c.13194C>G (p.Leu4398=)
|
rs2503881182
|
|
NM_001376.5(DYNC1H1):c.13203C>G (p.Thr4401=)
|
rs138022242
|
|
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=)
|
rs138022242
|
|
NM_001376.5(DYNC1H1):c.13209G>A (p.Glu4403=)
|
rs2152600255
|
|
NM_001376.5(DYNC1H1):c.13218+14T>G
|
|
|
NM_001376.5(DYNC1H1):c.13218+17C>A
|
rs779202254
|
|
NM_001376.5(DYNC1H1):c.13218+17C>T
|
rs779202254
|
|
NM_001376.5(DYNC1H1):c.13218+18G>A
|
rs745843852
|
|
NM_001376.5(DYNC1H1):c.13218+18G>C
|
rs745843852
|
|
NM_001376.5(DYNC1H1):c.13218+7G>A
|
rs2503881267
|
|
NM_001376.5(DYNC1H1):c.13218+8G>A
|
rs2503881272
|
|
NM_001376.5(DYNC1H1):c.13219-10A>G
|
rs2152600473
|
|
NM_001376.5(DYNC1H1):c.13219-12G>A
|
rs2048758178
|
|
NM_001376.5(DYNC1H1):c.13219-14T>C
|
|
|
NM_001376.5(DYNC1H1):c.13219-8G>C
|
rs370812794
|
|
NM_001376.5(DYNC1H1):c.13219-8G>T
|
rs370812794
|
|
NM_001376.5(DYNC1H1):c.13239T>C (p.Phe4413=)
|
|
|
NM_001376.5(DYNC1H1):c.13257G>C (p.Met4419Ile)
|
rs1555412618
|
|
NM_001376.5(DYNC1H1):c.13261G>T (p.Ala4421Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13265A>C (p.Lys4422Thr)
|
rs1463058227
|
|
NM_001376.5(DYNC1H1):c.13269G>A (p.Leu4423=)
|
rs2503883881
|
|
NM_001376.5(DYNC1H1):c.1326G>A (p.Arg442=)
|
|
|
NM_001376.5(DYNC1H1):c.13282C>G (p.Arg4428Gly)
|
rs770395590
|
|
NM_001376.5(DYNC1H1):c.13283G>A (p.Arg4428His)
|
rs762496944
|
|
NM_001376.5(DYNC1H1):c.13311G>A (p.Val4437=)
|
|
|
NM_001376.5(DYNC1H1):c.13346G>A (p.Arg4449His)
|
rs777866900
|
|
NM_001376.5(DYNC1H1):c.13350G>A (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13350G>T (p.Thr4450=)
|
rs961375016
|
|
NM_001376.5(DYNC1H1):c.13359C>G (p.Asn4453Lys)
|
rs140033479
|
|
NM_001376.5(DYNC1H1):c.13365A>G (p.Leu4455=)
|
rs2152600572
|
|
NM_001376.5(DYNC1H1):c.13372+15G>C
|
rs200190286
|
|
NM_001376.5(DYNC1H1):c.13372+20C>T
|
|
|
NM_001376.5(DYNC1H1):c.13372+8_13372+23dup
|
rs2503884443
|
|
NM_001376.5(DYNC1H1):c.13373-11C>T
|
rs1335281008
|
|
NM_001376.5(DYNC1H1):c.13373-14T>C
|
rs2048773352
|
|
NM_001376.5(DYNC1H1):c.13373-18TG[2]
|
rs2503888032
|
|
NM_001376.5(DYNC1H1):c.133G>C (p.Gly45Arg)
|
rs1245576701
|
|
NM_001376.5(DYNC1H1):c.13404G>T (p.Thr4468=)
|
rs17541692
|
|
NM_001376.5(DYNC1H1):c.13431G>A (p.Gln4477=)
|
rs1395483626
|
|
NM_001376.5(DYNC1H1):c.1347G>A (p.Val449=)
|
rs2047891743
|
|
NM_001376.5(DYNC1H1):c.13488T>C (p.Ala4496=)
|
rs2503888549
|
|
NM_001376.5(DYNC1H1):c.13497T>A (p.Gly4499=)
|
rs1555412704
|
|
NM_001376.5(DYNC1H1):c.13509G>A (p.Glu4503=)
|
rs1304570979
|
|
NM_001376.5(DYNC1H1):c.13512A>G (p.Leu4504=)
|
rs557163093
|
|
NM_001376.5(DYNC1H1):c.13515+13C>T
|
rs2152601092
|
|
NM_001376.5(DYNC1H1):c.13515+19dup
|
rs774180410
|
|
NM_001376.5(DYNC1H1):c.13516-10C>A
|
rs1595637656
|
|
NM_001376.5(DYNC1H1):c.13516-10C>G
|
rs1595637656
|
|
NM_001376.5(DYNC1H1):c.13516-13C>G
|
rs2152601181
|
|
NM_001376.5(DYNC1H1):c.13516-14G>A
|
rs768543264
|
|
NM_001376.5(DYNC1H1):c.13516-7dup
|
rs2503889368
|
|
NM_001376.5(DYNC1H1):c.13530C>T (p.Cys4510=)
|
rs2503889484
|
|
NM_001376.5(DYNC1H1):c.13545C>T (p.Phe4515=)
|
rs754081062
|
|
NM_001376.5(DYNC1H1):c.13548G>C (p.Val4516=)
|
rs1555412737
|
|
NM_001376.5(DYNC1H1):c.13557G>T (p.Ala4519=)
|
rs35546990
|
|
NM_001376.5(DYNC1H1):c.13560C>T (p.Tyr4520=)
|
rs2048779107
|
|
NM_001376.5(DYNC1H1):c.13561A>G (p.Ile4521Val)
|
rs2503889649
|
|
NM_001376.5(DYNC1H1):c.13608G>A (p.Leu4536=)
|
|
|
NM_001376.5(DYNC1H1):c.13623G>A (p.Leu4541=)
|
rs778080828
|
|
NM_001376.5(DYNC1H1):c.13644A>G (p.Ser4548=)
|
rs2152601249
|
|
NM_001376.5(DYNC1H1):c.13656C>T (p.Thr4552=)
|
rs2048780418
|
|
NM_001376.5(DYNC1H1):c.13668C>T (p.Cys4556=)
|
|
|
NM_001376.5(DYNC1H1):c.13684+12C>G
|
rs776907837
|
|
NM_001376.5(DYNC1H1):c.13684+12C>T
|
rs776907837
|
|
NM_001376.5(DYNC1H1):c.13684+16C>A
|
rs1184798747
|
|
NM_001376.5(DYNC1H1):c.13684+16_13684+17del
|
rs767257826
|
|
NM_001376.5(DYNC1H1):c.13684+20A>C
|
|
|
NM_001376.5(DYNC1H1):c.13684+9A>G
|
rs1475798561
|
|
NM_001376.5(DYNC1H1):c.13685-11C>T
|
|
|
NM_001376.5(DYNC1H1):c.13685-14C>T
|
rs1269146350
|
|
NM_001376.5(DYNC1H1):c.13685-5C>T
|
rs1595638020
|
|
NM_001376.5(DYNC1H1):c.13685-9G>C
|
rs774759609
|
|
NM_001376.5(DYNC1H1):c.13698A>G (p.Gln4566=)
|
rs1480231690
|
|
NM_001376.5(DYNC1H1):c.13707G>C (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.13707G>T (p.Thr4569=)
|
rs138571942
|
|
NM_001376.5(DYNC1H1):c.13710C>T (p.Cys4570=)
|
rs754717221
|
|
NM_001376.5(DYNC1H1):c.13729C>T (p.Leu4577=)
|
|
|
NM_001376.5(DYNC1H1):c.13734C>T (p.Ser4578=)
|
|
|
NM_001376.5(DYNC1H1):c.13743C>T (p.Ile4581=)
|
rs1310446969
|
|
NM_001376.5(DYNC1H1):c.13750G>T (p.Ala4584Ser)
|
|
|
NM_001376.5(DYNC1H1):c.13759C>T (p.Leu4587=)
|
rs2503891691
|
|
NM_001376.5(DYNC1H1):c.13812+12C>T
|
rs925403039
|
|
NM_001376.5(DYNC1H1):c.13812+17T>C
|
rs2503892136
|
|
NM_001376.5(DYNC1H1):c.13812+9dup
|
rs1413010265
|
|
NM_001376.5(DYNC1H1):c.1383C>T (p.Ala461=)
|
|
|
NM_001376.5(DYNC1H1):c.13842C>T (p.Thr4614=)
|
rs1278937449
|
|
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val)
|
rs879254286
|
|
NM_001376.5(DYNC1H1):c.13863C>A (p.Thr4621=)
|
rs2048794053
|
|
NM_001376.5(DYNC1H1):c.13863C>T (p.Thr4621=)
|
rs2048794053
|
|
NM_001376.5(DYNC1H1):c.13872C>G (p.Phe4624Leu)
|
rs375918532
|
|
NM_001376.5(DYNC1H1):c.13872C>T (p.Phe4624=)
|
rs375918532
|
|
NM_001376.5(DYNC1H1):c.13884A>C (p.Thr4628=)
|
rs1443579245
|
|
NM_001376.5(DYNC1H1):c.13909G>A (p.Glu4637Lys)
|
rs746415747
|
|
NM_001376.5(DYNC1H1):c.13921G>A (p.Ala4641Thr)
|
rs762692352
|
|
NM_001376.5(DYNC1H1):c.13927T>C (p.Leu4643=)
|
rs763773412
|
|
NM_001376.5(DYNC1H1):c.13932C>T (p.Cys4644=)
|
rs2152601755
|
|
NM_001376.5(DYNC1H1):c.13938G>A (p.Glu4646=)
|
rs1595638451
|
|
NM_001376.5(DYNC1H1):c.13941A>G (p.Ter4647=)
|
rs2503893874
|
|
NM_001376.5(DYNC1H1):c.1425G>A (p.Gln475=)
|
rs2141272598
|
|
NM_001376.5(DYNC1H1):c.142G>A (p.Ala48Thr)
|
rs756016984
|
|
NM_001376.5(DYNC1H1):c.1441G>C (p.Val481Leu)
|
rs770305875
|
|
NM_001376.5(DYNC1H1):c.1455G>A (p.Arg485=)
|
rs2141272613
|
|
NM_001376.5(DYNC1H1):c.1458A>G (p.Pro486=)
|
rs2047892773
|
|
NM_001376.5(DYNC1H1):c.1462-17A>C
|
rs746091764
|
|
NM_001376.5(DYNC1H1):c.1462-17A>G
|
rs746091764
|
|
NM_001376.5(DYNC1H1):c.1462-9C>G
|
rs2047928954
|
|
NM_001376.5(DYNC1H1):c.1473T>G (p.Val491=)
|
rs2141274508
|
|
NM_001376.5(DYNC1H1):c.1477C>A (p.Gln493Lys)
|
rs1298953581
|
|
NM_001376.5(DYNC1H1):c.147G>A (p.Pro49=)
|
rs1322995503
|
|
NM_001376.5(DYNC1H1):c.1496T>C (p.Val499Ala)
|
|
|
NM_001376.5(DYNC1H1):c.1506C>T (p.Pro502=)
|
rs1366689433
|
|
NM_001376.5(DYNC1H1):c.150C>G (p.Ala50=)
|
rs372404851
|
|
NM_001376.5(DYNC1H1):c.150C>T (p.Ala50=)
|
|
|
NM_001376.5(DYNC1H1):c.1512T>C (p.Asp504=)
|
rs2503693148
|
|
NM_001376.5(DYNC1H1):c.1533C>G (p.Leu511=)
|
rs759388059
|
|
NM_001376.5(DYNC1H1):c.1542T>C (p.Ala514=)
|
rs1178479635
|
|
NM_001376.5(DYNC1H1):c.154C>T (p.Leu52=)
|
rs2141258601
|
|
NM_001376.5(DYNC1H1):c.1563G>A (p.Glu521=)
|
rs2503693241
|
|
NM_001376.5(DYNC1H1):c.15G>A (p.Gly5=)
|
rs757038886
|
|
NM_001376.5(DYNC1H1):c.1617C>T (p.Ser539=)
|
rs1339226229
|
|
NM_001376.5(DYNC1H1):c.161C>A (p.Ala54Glu)
|
|
|
NM_001376.5(DYNC1H1):c.162G>C (p.Ala54=)
|
rs1322653837
|
|
NM_001376.5(DYNC1H1):c.1632A>G (p.Glu544=)
|
rs2503693437
|
|
NM_001376.5(DYNC1H1):c.1647T>C (p.Ala549=)
|
rs1219770534
|
|
NM_001376.5(DYNC1H1):c.1659C>T (p.Tyr553=)
|
rs763702892
|
|
NM_001376.5(DYNC1H1):c.1660G>A (p.Asp554Asn)
|
rs1003040427
|
|
NM_001376.5(DYNC1H1):c.1671C>T (p.Ile557=)
|
rs779414451
|
|
NM_001376.5(DYNC1H1):c.1680G>A (p.Val560=)
|
rs2503693551
|
|
NM_001376.5(DYNC1H1):c.1687C>A (p.Arg563=)
|
rs936651034
|
|
NM_001376.5(DYNC1H1):c.1689G>A (p.Arg563=)
|
rs2047931629
|
|
NM_001376.5(DYNC1H1):c.171G>A (p.Glu57=)
|
rs2047646234
|
|
NM_001376.5(DYNC1H1):c.1746T>C (p.Phe582=)
|
|
|
NM_001376.5(DYNC1H1):c.1749G>A (p.Arg583=)
|
rs2141274677
|
|
NM_001376.5(DYNC1H1):c.174G>A (p.Glu58=)
|
rs2141258631
|
|
NM_001376.5(DYNC1H1):c.1758C>G (p.Ser586=)
|
rs2503693775
|
|
NM_001376.5(DYNC1H1):c.1771C>T (p.Leu591=)
|
rs2503693796
|
|
NM_001376.5(DYNC1H1):c.1782G>A (p.Arg594=)
|
rs775528166
|
|
NM_001376.5(DYNC1H1):c.1818C>T (p.Thr606=)
|
|
|
NM_001376.5(DYNC1H1):c.1821G>A (p.Gln607=)
|
rs2141274723
|
|
NM_001376.5(DYNC1H1):c.1824G>C (p.Leu608=)
|
|
|
NM_001376.5(DYNC1H1):c.183C>A (p.Ala61=)
|
rs554497564
|
|
NM_001376.5(DYNC1H1):c.183C>T (p.Ala61=)
|
rs554497564
|
|
NM_001376.5(DYNC1H1):c.184C>T (p.Leu62=)
|
rs777022618
|
|
NM_001376.5(DYNC1H1):c.186G>A (p.Leu62=)
|
rs2047646417
|
|
NM_001376.5(DYNC1H1):c.1875C>G (p.Val625=)
|
rs753183437
|
|
NM_001376.5(DYNC1H1):c.1875C>T (p.Val625=)
|
rs753183437
|
|
NM_001376.5(DYNC1H1):c.1887G>A (p.Gln629=)
|
|
|
NM_001376.5(DYNC1H1):c.1896T>G (p.Ala632=)
|
rs2503694826
|
|
NM_001376.5(DYNC1H1):c.189G>A (p.Glu63=)
|
rs1595590226
|
|
NM_001376.5(DYNC1H1):c.1920C>T (p.Asp640=)
|
rs2141274780
|
|
NM_001376.5(DYNC1H1):c.1923G>A (p.Leu641=)
|
rs2141274783
|
|
NM_001376.5(DYNC1H1):c.1959G>A (p.Gln653=)
|
|
|
NM_001376.5(DYNC1H1):c.1965C>T (p.Asp655=)
|
rs2503695009
|
|
NM_001376.5(DYNC1H1):c.1972C>T (p.Leu658=)
|
rs2141274820
|
|
NM_001376.5(DYNC1H1):c.1983C>T (p.Tyr661=)
|
rs2047934833
|
|
NM_001376.5(DYNC1H1):c.1989G>A (p.Lys663=)
|
rs1798168171
|
|
NM_001376.5(DYNC1H1):c.198C>G (p.Arg66=)
|
rs2503644515
|
|
NM_001376.5(DYNC1H1):c.1992G>A (p.Arg664=)
|
rs1158129941
|
|
NM_001376.5(DYNC1H1):c.1995G>A (p.Val665=)
|
rs2047935013
|
|
NM_001376.5(DYNC1H1):c.200A>G (p.Lys67Arg)
|
rs776102549
|
|
NM_001376.5(DYNC1H1):c.2013G>A (p.Lys671=)
|
rs2141274855
|
|
NM_001376.5(DYNC1H1):c.2028C>T (p.His676=)
|
rs758895614
|
|
NM_001376.5(DYNC1H1):c.2031G>T (p.Val677=)
|
rs2047935608
|
|
NM_001376.5(DYNC1H1):c.2040G>A (p.Gln680=)
|
rs1555408347
|
|
NM_001376.5(DYNC1H1):c.2043G>A (p.Lys681=)
|
rs1050408910
|
|
NM_001376.5(DYNC1H1):c.2046G>C (p.Leu682=)
|
rs2503695212
|
|
NM_001376.5(DYNC1H1):c.2049G>A (p.Lys683=)
|
|
|
NM_001376.5(DYNC1H1):c.204C>T (p.Phe68=)
|
rs2141258669
|
|
NM_001376.5(DYNC1H1):c.2085G>A (p.Thr695=)
|
rs755760078
|
|
NM_001376.5(DYNC1H1):c.2090A>C (p.Glu697Ala)
|
rs749149789
|
|
NM_001376.5(DYNC1H1):c.2097T>C (p.Phe699=)
|
rs2141274897
|
|
NM_001376.5(DYNC1H1):c.2100T>C (p.Asp700=)
|
rs2141274899
|
|
NM_001376.5(DYNC1H1):c.210G>A (p.Ser70=)
|
rs2141258672
|
|
NM_001376.5(DYNC1H1):c.2115G>A (p.Lys705=)
|
rs1555408353
|
|
NM_001376.5(DYNC1H1):c.2134G>A (p.Gly712Ser)
|
rs748062639
|
|
NM_001376.5(DYNC1H1):c.213C>T (p.Asp71=)
|
rs763561186
|
|
NM_001376.5(DYNC1H1):c.2154C>T (p.Phe718=)
|
|
|
NM_001376.5(DYNC1H1):c.2156C>T (p.Thr719Ile)
|
rs775702816
|
|
NM_001376.5(DYNC1H1):c.216G>A (p.Pro72=)
|
rs763640517
|
|
NM_001376.5(DYNC1H1):c.2172G>T (p.Arg724=)
|
rs1250789285
|
|
NM_001376.5(DYNC1H1):c.2175T>C (p.Val725=)
|
rs757752556
|
|
NM_001376.5(DYNC1H1):c.2205G>T (p.Leu735=)
|
rs1230024384
|
|
NM_001376.5(DYNC1H1):c.2217T>C (p.Phe739=)
|
rs2141274986
|
|
NM_001376.5(DYNC1H1):c.2232C>T (p.Ile744=)
|
rs2503695731
|
|
NM_001376.5(DYNC1H1):c.2244A>G (p.Lys748=)
|
rs2141274997
|
|
NM_001376.5(DYNC1H1):c.2251C>A (p.Arg751=)
|
|
|
NM_001376.5(DYNC1H1):c.2277C>A (p.Arg759=)
|
rs577000800
|
|
NM_001376.5(DYNC1H1):c.2288C>T (p.Ala763Val)
|
rs1358924141
|
|
NM_001376.5(DYNC1H1):c.2295G>A (p.Val765=)
|
rs2503695959
|
|
NM_001376.5(DYNC1H1):c.2307T>C (p.His769=)
|
|
|
NM_001376.5(DYNC1H1):c.2328G>T (p.Pro776=)
|
rs144921184
|
|
NM_001376.5(DYNC1H1):c.2340A>G (p.Ser780=)
|
rs2141275075
|
|
NM_001376.5(DYNC1H1):c.2343G>C (p.Leu781=)
|
rs2503696056
|
|
NM_001376.5(DYNC1H1):c.2343G>T (p.Leu781=)
|
rs2503696056
|
|
NM_001376.5(DYNC1H1):c.2346C>T (p.Ile782=)
|
rs375810066
|
|
NM_001376.5(DYNC1H1):c.234G>C (p.Leu78=)
|
rs1188392922
|
|
NM_001376.5(DYNC1H1):c.2355T>C (p.Val785=)
|
|
|
NM_001376.5(DYNC1H1):c.2370G>C (p.Arg790=)
|
rs1382350488
|
|
NM_001376.5(DYNC1H1):c.2373C>T (p.Thr791=)
|
rs2503696178
|
|
NM_001376.5(DYNC1H1):c.237G>A (p.Val79=)
|
rs2503644647
|
|
NM_001376.5(DYNC1H1):c.2400C>T (p.Thr800=)
|
|
|
NM_001376.5(DYNC1H1):c.2445G>T (p.Leu815=)
|
rs1174424147
|
|
NM_001376.5(DYNC1H1):c.2457C>T (p.Gly819=)
|
rs148030949
|
|
NM_001376.5(DYNC1H1):c.2462C>T (p.Ala821Val)
|
rs1391196036
|
|
NM_001376.5(DYNC1H1):c.246C>T (p.Ser82=)
|
rs1360149464
|
|
NM_001376.5(DYNC1H1):c.2499A>G (p.Val833=)
|
rs2047941402
|
|
NM_001376.5(DYNC1H1):c.24C>T (p.Gly8=)
|
rs2047642862
|
|
NM_001376.5(DYNC1H1):c.2517T>C (p.Thr839=)
|
|
|
NM_001376.5(DYNC1H1):c.2518G>A (p.Val840Ile)
|
rs1473561672
|
|
NM_001376.5(DYNC1H1):c.252C>G (p.Leu84=)
|
rs2047647519
|
|
NM_001376.5(DYNC1H1):c.2532A>G (p.Gln844=)
|
rs1174175150
|
|
NM_001376.5(DYNC1H1):c.2535A>G (p.Glu845=)
|
rs2503696650
|
|
NM_001376.5(DYNC1H1):c.2538+18C>G
|
rs773670664
|
|
NM_001376.5(DYNC1H1):c.2538+7T>C
|
|
|
NM_001376.5(DYNC1H1):c.2539-10C>A
|
rs1372571783
|
|
NM_001376.5(DYNC1H1):c.2539-20T>C
|
rs757171419
|
|
NM_001376.5(DYNC1H1):c.2539-6C>A
|
rs535465221
|
|
NM_001376.5(DYNC1H1):c.2539-6_2539-3del
|
rs2141275733
|
|
NM_001376.5(DYNC1H1):c.2547T>C (p.Asp849=)
|
|
|
NM_001376.5(DYNC1H1):c.256+10C>G
|
|
|
NM_001376.5(DYNC1H1):c.256+11G>T
|
rs1487769546
|
|
NM_001376.5(DYNC1H1):c.256+14G>A
|
rs754962330
|
|
NM_001376.5(DYNC1H1):c.256+15A>T
|
rs2503644843
|
|
NM_001376.5(DYNC1H1):c.256+16G>T
|
rs2503644850
|
|
NM_001376.5(DYNC1H1):c.256+17G>C
|
rs1186835017
|
|
NM_001376.5(DYNC1H1):c.256+18del
|
rs2047648052
|
|
NM_001376.5(DYNC1H1):c.256+19C>T
|
rs2503644869
|
|
NM_001376.5(DYNC1H1):c.256+7G>A
|
rs890555539
|
|
NM_001376.5(DYNC1H1):c.257-15_257-12del
|
rs761402353
|
|
NM_001376.5(DYNC1H1):c.257-19T>C
|
|
|
NM_001376.5(DYNC1H1):c.257-6T>A
|
rs2141266656
|
|
NM_001376.5(DYNC1H1):c.257-9G>T
|
rs200907076
|
|
NM_001376.5(DYNC1H1):c.2637C>T (p.Asn879=)
|
rs2047950250
|
|
NM_001376.5(DYNC1H1):c.2643C>G (p.Val881=)
|
rs1954973507
|
|
NM_001376.5(DYNC1H1):c.2682C>G (p.Ser894=)
|
rs2503698717
|
|
NM_001376.5(DYNC1H1):c.2700C>T (p.Val900=)
|
|
|
NM_001376.5(DYNC1H1):c.2718+18C>T
|
|
|
NM_001376.5(DYNC1H1):c.2718+20A>G
|
rs370794188
|
|
NM_001376.5(DYNC1H1):c.2719-14A>G
|
rs2503701591
|
|
NM_001376.5(DYNC1H1):c.2719-7T>C
|
|
|
NM_001376.5(DYNC1H1):c.2719-9_2719-7del
|
rs566271356
|
|
NM_001376.5(DYNC1H1):c.2742T>C (p.Arg914=)
|
|
|
NM_001376.5(DYNC1H1):c.2743C>T (p.Leu915=)
|
rs2503701706
|
|
NM_001376.5(DYNC1H1):c.2751T>C (p.Ala917=)
|
rs2141276642
|
|
NM_001376.5(DYNC1H1):c.2757G>A (p.Leu919=)
|
rs2503701753
|
|
NM_001376.5(DYNC1H1):c.2769G>C (p.Thr923=)
|
rs766285625
|
|
NM_001376.5(DYNC1H1):c.2778T>C (p.Leu926=)
|
rs1277515928
|
|
NM_001376.5(DYNC1H1):c.2790T>C (p.Ala930=)
|
|
|
NM_001376.5(DYNC1H1):c.2800G>A (p.Ala934Thr)
|
|
|
NM_001376.5(DYNC1H1):c.2829A>G (p.Pro943=)
|
rs757594867
|
|
NM_001376.5(DYNC1H1):c.2867A>G (p.Lys956Arg)
|
rs2141276715
|
|
NM_001376.5(DYNC1H1):c.2868+11C>T
|
|
|
NM_001376.5(DYNC1H1):c.2868+13G>A
|
rs2047964518
|
|
NM_001376.5(DYNC1H1):c.2868+21_2868+25del
|
rs767708633
|
|
NM_001376.5(DYNC1H1):c.2869-14C>G
|
rs2503708057
|
|
NM_001376.5(DYNC1H1):c.2874C>T (p.Val958=)
|
|
|
NM_001376.5(DYNC1H1):c.2883G>A (p.Glu961=)
|
rs2047998469
|
|
NM_001376.5(DYNC1H1):c.2919A>G (p.Pro973=)
|
|
|
NM_001376.5(DYNC1H1):c.2952G>A (p.Gln984=)
|
rs977074966
|
|
NM_001376.5(DYNC1H1):c.2988C>T (p.Leu996=)
|
|
|
NM_001376.5(DYNC1H1):c.3003T>C (p.Ser1001=)
|
rs2503708491
|
|
NM_001376.5(DYNC1H1):c.300C>T (p.Ser100=)
|
|
|
NM_001376.5(DYNC1H1):c.3015+15del
|
rs760760333
|
|
NM_001376.5(DYNC1H1):c.3016-5del
|
rs754038051
|
|
NM_001376.5(DYNC1H1):c.3022G>A (p.Val1008Ile)
|
|
|
NM_001376.5(DYNC1H1):c.3030C>T (p.Tyr1010=)
|
rs1355964417
|
|
NM_001376.5(DYNC1H1):c.3038C>T (p.Thr1013Ile)
|
rs1158585472
|
|
NM_001376.5(DYNC1H1):c.3039T>C (p.Thr1013=)
|
|
|
NM_001376.5(DYNC1H1):c.3048G>A (p.Glu1016=)
|
|
|
NM_001376.5(DYNC1H1):c.3053T>C (p.Phe1018Ser)
|
rs1318726169
|
|
NM_001376.5(DYNC1H1):c.3096C>G (p.Ala1032=)
|
rs1060504507
|
|
NM_001376.5(DYNC1H1):c.3142G>A (p.Glu1048Lys)
|
|
|
NM_001376.5(DYNC1H1):c.3146A>G (p.Gln1049Arg)
|
rs1412540989
|
|
NM_001376.5(DYNC1H1):c.3157-15_3157-14del
|
rs2503714561
|
|
NM_001376.5(DYNC1H1):c.3157-16T>C
|
rs2048037937
|
|
NM_001376.5(DYNC1H1):c.3157-17G>C
|
rs1424530018
|
|
NM_001376.5(DYNC1H1):c.3186T>C (p.Asp1062=)
|
rs1308975395
|
|
NM_001376.5(DYNC1H1):c.3210C>T (p.Asn1070=)
|
rs1595605306
|
|
NM_001376.5(DYNC1H1):c.321T>C (p.Ile107=)
|
rs2503672302
|
|
NM_001376.5(DYNC1H1):c.3228C>A (p.Leu1076=)
|
rs763504812
|
|
NM_001376.5(DYNC1H1):c.3228C>T (p.Leu1076=)
|
rs763504812
|
|
NM_001376.5(DYNC1H1):c.3231C>T (p.Asn1077=)
|
rs2503714749
|
|
NM_001376.5(DYNC1H1):c.3246C>T (p.Leu1082=)
|
rs2141280793
|
|
NM_001376.5(DYNC1H1):c.3247C>T (p.Leu1083=)
|
|
|
NM_001376.5(DYNC1H1):c.3249G>A (p.Leu1083=)
|
rs767157510
|
|
NM_001376.5(DYNC1H1):c.3300A>G (p.Lys1100=)
|
rs2048039449
|
|
NM_001376.5(DYNC1H1):c.3333+19T>G
|
rs2503714994
|
|
NM_001376.5(DYNC1H1):c.3333+8C>T
|
rs1018356572
|
|
NM_001376.5(DYNC1H1):c.3334-18G>T
|
rs956333998
|
|
NM_001376.5(DYNC1H1):c.3334-4T>A
|
rs368422942
|
|
NM_001376.5(DYNC1H1):c.3334-6C>A
|
rs2141280934
|
|
NM_001376.5(DYNC1H1):c.3336A>G (p.Val1112=)
|
|
|
NM_001376.5(DYNC1H1):c.335A>G (p.Lys112Arg)
|
rs757242487
|
|
NM_001376.5(DYNC1H1):c.3363C>T (p.Asp1121=)
|
rs756192681
|
|
NM_001376.5(DYNC1H1):c.3372T>C (p.His1124=)
|
rs2503715383
|
|
NM_001376.5(DYNC1H1):c.3405A>G (p.Leu1135=)
|
rs1595605468
|
|
NM_001376.5(DYNC1H1):c.3438C>T (p.Ile1146=)
|
rs2503715521
|
|
NM_001376.5(DYNC1H1):c.344+12A>G
|
rs2141266738
|
|
NM_001376.5(DYNC1H1):c.344+20C>A
|
rs2047793703
|
|
NM_001376.5(DYNC1H1):c.3444+13G>A
|
|
|
NM_001376.5(DYNC1H1):c.3444+14A>G
|
rs1203391947
|
|
NM_001376.5(DYNC1H1):c.3444+17C>G
|
rs2503715569
|
|
NM_001376.5(DYNC1H1):c.3445-10C>T
|
rs2503715731
|
|
NM_001376.5(DYNC1H1):c.3445-12C>A
|
rs772567202
|
|
NM_001376.5(DYNC1H1):c.3445-19C>A
|
rs891643540
|
|
NM_001376.5(DYNC1H1):c.3445-6G>A
|
rs1057086412
|
|
NM_001376.5(DYNC1H1):c.3474A>T (p.Val1158=)
|
rs1215497077
|
|
NM_001376.5(DYNC1H1):c.3501G>A (p.Val1167=)
|
rs890917236
|
|
NM_001376.5(DYNC1H1):c.3504C>T (p.Thr1168=)
|
rs2503715878
|
|
NM_001376.5(DYNC1H1):c.3510C>T (p.Ile1170=)
|
rs2503715886
|
|
NM_001376.5(DYNC1H1):c.3516T>C (p.Tyr1172=)
|
|
|
NM_001376.5(DYNC1H1):c.3528G>A (p.Leu1176=)
|
rs1389309414
|
|
NM_001376.5(DYNC1H1):c.355A>G (p.Ile119Val)
|
rs953641294
|
|
NM_001376.5(DYNC1H1):c.3564+10G>A
|
|
|
NM_001376.5(DYNC1H1):c.3564+18T>G
|
rs2141281147
|
|
NM_001376.5(DYNC1H1):c.3564+9T>C
|
rs2503716000
|
|
NM_001376.5(DYNC1H1):c.3565-18A>T
|
rs762641914
|
|
NM_001376.5(DYNC1H1):c.3565-9C>A
|
|
|
NM_001376.5(DYNC1H1):c.3585C>T (p.Arg1195=)
|
|
|
NM_001376.5(DYNC1H1):c.3589C>T (p.Leu1197=)
|
rs1465041740
|
|
NM_001376.5(DYNC1H1):c.3603G>A (p.Arg1201=)
|
rs727505393
|
|
NM_001376.5(DYNC1H1):c.3615A>C (p.Pro1205=)
|
|
|
NM_001376.5(DYNC1H1):c.3615A>G (p.Pro1205=)
|
|
|
NM_001376.5(DYNC1H1):c.3642C>A (p.Ile1214=)
|
rs778273904
|
|
NM_001376.5(DYNC1H1):c.3642C>T (p.Ile1214=)
|
rs778273904
|
|
NM_001376.5(DYNC1H1):c.3645G>A (p.Glu1215=)
|
rs757568646
|
|
NM_001376.5(DYNC1H1):c.3669C>T (p.Asp1223=)
|
rs2048071718
|
|
NM_001376.5(DYNC1H1):c.3676C>A (p.Arg1226=)
|
rs1000725714
|
|
NM_001376.5(DYNC1H1):c.3699G>A (p.Gln1233=)
|
|
|
NM_001376.5(DYNC1H1):c.36C>G (p.Gly12=)
|
rs373527972
|
|
NM_001376.5(DYNC1H1):c.3702G>A (p.Gln1234=)
|
rs2141282680
|
|
NM_001376.5(DYNC1H1):c.372G>A (p.Val124=)
|
rs1244673565
|
|
NM_001376.5(DYNC1H1):c.3744G>A (p.Arg1248=)
|
rs2503720431
|
|
NM_001376.5(DYNC1H1):c.3756C>T (p.Ser1252=)
|
|
|
NM_001376.5(DYNC1H1):c.3768C>T (p.Asp1256=)
|
rs2503720522
|
|
NM_001376.5(DYNC1H1):c.378T>C (p.Asp126=)
|
rs755261254
|
|
NM_001376.5(DYNC1H1):c.3804+10G>A
|
rs868676505
|
|
NM_001376.5(DYNC1H1):c.3804+10G>T
|
|
|
NM_001376.5(DYNC1H1):c.3804+11C>A
|
|
|
NM_001376.5(DYNC1H1):c.3804+13A>T
|
rs2048073960
|
|
NM_001376.5(DYNC1H1):c.3804+15G>A
|
rs1481916299
|
|
NM_001376.5(DYNC1H1):c.3804+15G>C
|
rs1481916299
|
|
NM_001376.5(DYNC1H1):c.3804+15G>T
|
rs1481916299
|
|
NM_001376.5(DYNC1H1):c.3804+16dup
|
rs2503720712
|
|
NM_001376.5(DYNC1H1):c.3805-19G>A
|
rs1468919403
|
|
NM_001376.5(DYNC1H1):c.3805-20T>C
|
|
|
NM_001376.5(DYNC1H1):c.3816C>A (p.Arg1272=)
|
rs377048128
|
|
NM_001376.5(DYNC1H1):c.3819A>G (p.Pro1273=)
|
rs996115621
|
|
NM_001376.5(DYNC1H1):c.3843C>T (p.Thr1281=)
|
rs2503726378
|
|
NM_001376.5(DYNC1H1):c.3844A>G (p.Ile1282Val)
|
rs1567005557
|
|
NM_001376.5(DYNC1H1):c.3861T>C (p.Phe1287=)
|
rs770884515
|
|
NM_001376.5(DYNC1H1):c.3864T>C (p.Gly1288=)
|
rs2048112457
|
|
NM_001376.5(DYNC1H1):c.3900C>T (p.Ala1300=)
|
rs1725610555
|
|
NM_001376.5(DYNC1H1):c.3903G>A (p.Lys1301=)
|
rs1595608265
|
|
NM_001376.5(DYNC1H1):c.3909G>T (p.Ala1303=)
|
rs34690489
|
|
NM_001376.5(DYNC1H1):c.391G>A (p.Val131Met)
|
rs1488184652
|
|
NM_001376.5(DYNC1H1):c.3926C>T (p.Thr1309Ile)
|
rs1244347213
|
|
NM_001376.5(DYNC1H1):c.3927T>C (p.Thr1309=)
|
rs2503726625
|
|
NM_001376.5(DYNC1H1):c.3937A>G (p.Ser1313Gly)
|
rs895568337
|
|
NM_001376.5(DYNC1H1):c.3957G>A (p.Val1319=)
|
|
|
NM_001376.5(DYNC1H1):c.3960+19T>C
|
rs1355897758
|
|
NM_001376.5(DYNC1H1):c.3960+8C>A
|
|
|
NM_001376.5(DYNC1H1):c.3961-4G>A
|
rs548271329
|
|
NM_001376.5(DYNC1H1):c.3963G>A (p.Val1321=)
|
rs1281328641
|
|
NM_001376.5(DYNC1H1):c.396T>C (p.Ser132=)
|
rs2141269386
|
|
NM_001376.5(DYNC1H1):c.399T>C (p.Ser133=)
|
rs2047837466
|
|
NM_001376.5(DYNC1H1):c.39G>C (p.Ser13=)
|
rs773381038
|
|
NM_001376.5(DYNC1H1):c.4005A>G (p.Glu1335=)
|
rs2141285245
|
|
NM_001376.5(DYNC1H1):c.4049C>T (p.Pro1350Leu)
|
rs1131691955
|
|
NM_001376.5(DYNC1H1):c.4059A>G (p.Ser1353=)
|
|
|
NM_001376.5(DYNC1H1):c.4074+16G>A
|
rs200562671
|
|
NM_001376.5(DYNC1H1):c.4074+16G>T
|
rs200562671
|
|
NM_001376.5(DYNC1H1):c.4074+17G>A
|
rs1423045892
|
|
NM_001376.5(DYNC1H1):c.4074+7C>G
|
rs2141285286
|
|
NM_001376.5(DYNC1H1):c.4074+8A>C
|
rs1234075410
|
|
NM_001376.5(DYNC1H1):c.4074+9T>C
|
|
|
NM_001376.5(DYNC1H1):c.4074+9T>G
|
rs755973492
|
|
NM_001376.5(DYNC1H1):c.4075-15T>G
|
|
|
NM_001376.5(DYNC1H1):c.4075-16A>G
|
rs2048124089
|
|
NM_001376.5(DYNC1H1):c.4075-17del
|
|
|
NM_001376.5(DYNC1H1):c.4075-20T>A
|
rs2503729288
|
|
NM_001376.5(DYNC1H1):c.4075-8C>T
|
rs2503729344
|
|
NM_001376.5(DYNC1H1):c.4087T>C (p.Leu1363=)
|
rs2503729393
|
|
NM_001376.5(DYNC1H1):c.4089G>A (p.Leu1363=)
|
rs983150954
|
|
NM_001376.5(DYNC1H1):c.408G>A (p.Arg136=)
|
rs2503677959
|
|
NM_001376.5(DYNC1H1):c.4093G>T (p.Ala1365Ser)
|
rs766244729
|
|
NM_001376.5(DYNC1H1):c.4095C>G (p.Ala1365=)
|
rs753684857
|
|
NM_001376.5(DYNC1H1):c.411C>T (p.Val137=)
|
rs2047837591
|
|
NM_001376.5(DYNC1H1):c.4137G>A (p.Gln1379=)
|
rs781347128
|
|
NM_001376.5(DYNC1H1):c.414T>C (p.Leu138=)
|
rs2047837632
|
|
NM_001376.5(DYNC1H1):c.4168C>T (p.Leu1390=)
|
rs2048125119
|
|
NM_001376.5(DYNC1H1):c.417A>G (p.Thr139=)
|
rs746569922
|
|
NM_001376.5(DYNC1H1):c.417A>T (p.Thr139=)
|
rs746569922
|
|
NM_001376.5(DYNC1H1):c.4185+14A>G
|
rs2141285829
|
|
NM_001376.5(DYNC1H1):c.4185+16C>G
|
rs375613946
|
|
NM_001376.5(DYNC1H1):c.4185+9C>G
|
rs2503729683
|
|
NM_001376.5(DYNC1H1):c.4186-11T>G
|
rs2503729956
|
|
NM_001376.5(DYNC1H1):c.4186-14T>G
|
rs2141285869
|
|
NM_001376.5(DYNC1H1):c.4186-14del
|
rs2048126148
|
|
NM_001376.5(DYNC1H1):c.4186-17G>A
|
rs749598059
|
|
NM_001376.5(DYNC1H1):c.4186-17G>T
|
|
|
NM_001376.5(DYNC1H1):c.4186-8C>A
|
|
|
NM_001376.5(DYNC1H1):c.4197G>A (p.Leu1399=)
|
rs2141285890
|
|
NM_001376.5(DYNC1H1):c.4209G>A (p.Leu1403=)
|
rs2048126347
|
|
NM_001376.5(DYNC1H1):c.420C>T (p.Leu140=)
|
rs1337354666
|
|
NM_001376.5(DYNC1H1):c.4230C>T (p.Asp1410=)
|
rs1011026337
|
|
NM_001376.5(DYNC1H1):c.4231C>T (p.Arg1411Cys)
|
rs1567006266
|
|
NM_001376.5(DYNC1H1):c.4236T>C (p.His1412=)
|
rs2048126636
|
|
NM_001376.5(DYNC1H1):c.4257G>A (p.Arg1419=)
|
rs2048126705
|
|
NM_001376.5(DYNC1H1):c.4290C>T (p.Thr1430=)
|
|
|
NM_001376.5(DYNC1H1):c.4293T>C (p.Leu1431=)
|
rs1595609023
|
|
NM_001376.5(DYNC1H1):c.432G>T (p.Ser144=)
|
rs533327200
|
|
NM_001376.5(DYNC1H1):c.4335T>C (p.Ile1445=)
|
|
|
NM_001376.5(DYNC1H1):c.4345G>A (p.Val1449Ile)
|
rs754025510
|
|
NM_001376.5(DYNC1H1):c.4368G>A (p.Glu1456=)
|
rs748658121
|
|
NM_001376.5(DYNC1H1):c.4383A>G (p.Glu1461=)
|
rs2503730486
|
|
NM_001376.5(DYNC1H1):c.4392G>A (p.Lys1464=)
|
rs2048128274
|
|
NM_001376.5(DYNC1H1):c.4396-4T>C
|
rs1595609191
|
|
NM_001376.5(DYNC1H1):c.4396-8G>T
|
rs2048130559
|
|
NM_001376.5(DYNC1H1):c.4405G>A (p.Val1469Met)
|
|
|
NM_001376.5(DYNC1H1):c.4407G>A (p.Val1469=)
|
rs1056990454
|
|
NM_001376.5(DYNC1H1):c.4416T>A (p.Thr1472=)
|
rs778296023
|
|
NM_001376.5(DYNC1H1):c.4452C>T (p.Cys1484=)
|
rs1004941865
|
|
NM_001376.5(DYNC1H1):c.4467C>T (p.Gly1489=)
|
rs2141286171
|
|
NM_001376.5(DYNC1H1):c.4494A>G (p.Lys1498=)
|
rs2141286189
|
|
NM_001376.5(DYNC1H1):c.4500C>T (p.His1500=)
|
rs2048131418
|
|
NM_001376.5(DYNC1H1):c.4503C>T (p.Ile1501=)
|
rs2141286193
|
|
NM_001376.5(DYNC1H1):c.4512C>T (p.Val1504=)
|
rs1248505725
|
|
NM_001376.5(DYNC1H1):c.4539C>T (p.Tyr1513=)
|
rs1422153586
|
|
NM_001376.5(DYNC1H1):c.453T>C (p.Ser151=)
|
rs1595597411
|
|
NM_001376.5(DYNC1H1):c.4542+11T>C
|
|
|
NM_001376.5(DYNC1H1):c.4542+18G>C
|
|
|
NM_001376.5(DYNC1H1):c.4543-12T>A
|
rs1301099210
|
|
NM_001376.5(DYNC1H1):c.4543-19C>T
|
rs1185267975
|
|
NM_001376.5(DYNC1H1):c.4543-4C>T
|
rs2503733605
|
|
NM_001376.5(DYNC1H1):c.4543-7C>T
|
rs1555409395
|
|
NM_001376.5(DYNC1H1):c.4543-8C>T
|
rs1233333145
|
|
NM_001376.5(DYNC1H1):c.4543-9G>A
|
rs2503733585
|
|
NM_001376.5(DYNC1H1):c.457A>C (p.Ile153Leu)
|
rs140905741
|
|
NM_001376.5(DYNC1H1):c.45A>C (p.Gly15=)
|
rs2141258455
|
|
NM_001376.5(DYNC1H1):c.4635C>G (p.Val1545=)
|
rs1416911485
|
|
NM_001376.5(DYNC1H1):c.4639C>T (p.Leu1547=)
|
rs2503733753
|
|
NM_001376.5(DYNC1H1):c.4650C>A (p.Ile1550=)
|
rs2503733774
|
|
NM_001376.5(DYNC1H1):c.4656A>T (p.Thr1552=)
|
rs1350082937
|
|
NM_001376.5(DYNC1H1):c.4662T>C (p.Ser1554=)
|
|
|
NM_001376.5(DYNC1H1):c.4668T>C (p.Asp1556=)
|
rs2503733810
|
|
NM_001376.5(DYNC1H1):c.4680G>A (p.Leu1560=)
|
rs1281562859
|
|
NM_001376.5(DYNC1H1):c.4683G>T (p.Leu1561=)
|
rs779576586
|
|
NM_001376.5(DYNC1H1):c.4709+11C>A
|
rs1382089611
|
|
NM_001376.5(DYNC1H1):c.4709+18A>G
|
rs2503733950
|
|
NM_001376.5(DYNC1H1):c.4709+8C>T
|
rs563349315
|
|
NM_001376.5(DYNC1H1):c.4710-12T>A
|
|
|
NM_001376.5(DYNC1H1):c.4710-16T>C
|
rs765859961
|
|
NM_001376.5(DYNC1H1):c.4710-19G>C
|
|
|
NM_001376.5(DYNC1H1):c.4710-20T>C
|
rs2503734102
|
|
NM_001376.5(DYNC1H1):c.4719T>G (p.Thr1573=)
|
rs1452468632
|
|
NM_001376.5(DYNC1H1):c.4740A>G (p.Lys1580=)
|
rs2503734195
|
|
NM_001376.5(DYNC1H1):c.4755T>C (p.Ser1585=)
|
rs904040756
|
|
NM_001376.5(DYNC1H1):c.4758C>T (p.Pro1586=)
|
rs2503734236
|
|
NM_001376.5(DYNC1H1):c.4768G>C (p.Asp1590His)
|
rs200700087
|
|
NM_001376.5(DYNC1H1):c.4779C>T (p.Asn1593=)
|
rs2503734300
|
|
NM_001376.5(DYNC1H1):c.477T>C (p.Pro159=)
|
rs2503678159
|
|
NM_001376.5(DYNC1H1):c.4803G>A (p.Leu1601=)
|
|
|
NM_001376.5(DYNC1H1):c.4806A>G (p.Glu1602=)
|
rs2503734351
|
|
NM_001376.5(DYNC1H1):c.4822C>T (p.Leu1608=)
|
|
|
NM_001376.5(DYNC1H1):c.4883+7T>A
|
rs2141287126
|
|
NM_001376.5(DYNC1H1):c.4884-11T>G
|
rs2503738118
|
|
NM_001376.5(DYNC1H1):c.4884-14T>C
|
rs2141288454
|
|
NM_001376.5(DYNC1H1):c.4884-18G>A
|
|
|
NM_001376.5(DYNC1H1):c.4884-4T>C
|
rs2141288458
|
|
NM_001376.5(DYNC1H1):c.4905A>G (p.Glu1635=)
|
rs754977200
|
|
NM_001376.5(DYNC1H1):c.493A>G (p.Ile165Val)
|
|
|
NM_001376.5(DYNC1H1):c.4941C>T (p.Val1647=)
|
rs748301926
|
|
NM_001376.5(DYNC1H1):c.4948T>C (p.Leu1650=)
|
rs2141288491
|
|
NM_001376.5(DYNC1H1):c.4986G>C (p.Ser1662=)
|
rs113210905
|
|
NM_001376.5(DYNC1H1):c.4989C>T (p.Ser1663=)
|
rs2048175773
|
|
NM_001376.5(DYNC1H1):c.5011T>G (p.Ser1671Ala)
|
rs775007872
|
|
NM_001376.5(DYNC1H1):c.5013T>C (p.Ser1671=)
|
rs2503738374
|
|
NM_001376.5(DYNC1H1):c.501G>A (p.Glu167=)
|
rs1555407893
|
|
NM_001376.5(DYNC1H1):c.5031A>G (p.Ser1677=)
|
rs1260082505
|
|
NM_001376.5(DYNC1H1):c.5049+10T>C
|
rs2503738486
|
|
NM_001376.5(DYNC1H1):c.5049+12T>G
|
|
|
NM_001376.5(DYNC1H1):c.5049+15G>A
|
rs975753572
|
|
NM_001376.5(DYNC1H1):c.5049+8T>C
|
rs2141288581
|
|
NM_001376.5(DYNC1H1):c.5049+9A>G
|
rs1595611149
|
|
NM_001376.5(DYNC1H1):c.5050-18A>T
|
rs2141288628
|
|
NM_001376.5(DYNC1H1):c.5050-8T>G
|
rs2141288642
|
|
NM_001376.5(DYNC1H1):c.5067T>A (p.Pro1689=)
|
rs1195286511
|
|
NM_001376.5(DYNC1H1):c.5083C>T (p.His1695Tyr)
|
rs1442055313
|
|
NM_001376.5(DYNC1H1):c.5088C>T (p.Pro1696=)
|
rs2141288675
|
|
NM_001376.5(DYNC1H1):c.5100G>A (p.Glu1700=)
|
|
|
NM_001376.5(DYNC1H1):c.5133C>T (p.Val1711=)
|
rs2141288709
|
|
NM_001376.5(DYNC1H1):c.5137C>T (p.Leu1713=)
|
rs2141288714
|
|
NM_001376.5(DYNC1H1):c.5142C>G (p.Ala1714=)
|
rs2503738988
|
|
NM_001376.5(DYNC1H1):c.5154T>C (p.Ala1718=)
|
rs1223866819
|
|
NM_001376.5(DYNC1H1):c.5157G>A (p.Glu1719=)
|
rs2141288725
|
|
NM_001376.5(DYNC1H1):c.5166G>A (p.Thr1722=)
|
rs369232191
|
|
NM_001376.5(DYNC1H1):c.516C>T (p.Asp172=)
|
rs2503678267
|
|
NM_001376.5(DYNC1H1):c.5175G>A (p.Glu1725=)
|
rs1369884337
|
|
NM_001376.5(DYNC1H1):c.518+13G>A
|
rs2503678305
|
|
NM_001376.5(DYNC1H1):c.518+19A>G
|
rs2047839178
|
|
NM_001376.5(DYNC1H1):c.519-13A>C
|
rs2503678957
|
|
NM_001376.5(DYNC1H1):c.519-19G>A
|
|
|
NM_001376.5(DYNC1H1):c.519-20G>C
|
rs2503678913
|
|
NM_001376.5(DYNC1H1):c.519-4T>C
|
rs1239766414
|
|
NM_001376.5(DYNC1H1):c.51A>G (p.Glu17=)
|
rs1212687831
|
|
NM_001376.5(DYNC1H1):c.5205A>C (p.Pro1735=)
|
|
|
NM_001376.5(DYNC1H1):c.5211C>G (p.Thr1737=)
|
rs2141288772
|
|
NM_001376.5(DYNC1H1):c.5211C>T (p.Thr1737=)
|
rs2141288772
|
|
NM_001376.5(DYNC1H1):c.5217C>T (p.Ile1739=)
|
rs886050368
|
|
NM_001376.5(DYNC1H1):c.5238+8A>G
|
rs1405485346
|
|
NM_001376.5(DYNC1H1):c.5239-15T>C
|
rs2503739537
|
|
NM_001376.5(DYNC1H1):c.5239-17G>T
|
rs2141288856
|
|
NM_001376.5(DYNC1H1):c.5254T>C (p.Leu1752=)
|
rs200839329
|
|
NM_001376.5(DYNC1H1):c.5280G>A (p.Glu1760=)
|
rs1478629782
|
|
NM_001376.5(DYNC1H1):c.5305A>G (p.Met1769Val)
|
rs770746870
|
|
NM_001376.5(DYNC1H1):c.5314G>A (p.Gly1772Ser)
|
rs1316914842
|
|
NM_001376.5(DYNC1H1):c.5328G>T (p.Ala1776=)
|
rs143258359
|
|
NM_001376.5(DYNC1H1):c.5334G>A (p.Leu1778=)
|
rs2503739913
|
|
NM_001376.5(DYNC1H1):c.5347A>G (p.Ser1783Gly)
|
rs773630385
|
|
NM_001376.5(DYNC1H1):c.5349C>T (p.Ser1783=)
|
rs755423105
|
|
NM_001376.5(DYNC1H1):c.5352T>C (p.Asn1784=)
|
rs779511736
|
|
NM_001376.5(DYNC1H1):c.5358G>A (p.Glu1786=)
|
rs2141289032
|
|
NM_001376.5(DYNC1H1):c.5369A>G (p.Asn1790Ser)
|
rs1241550540
|
|
NM_001376.5(DYNC1H1):c.5370T>C (p.Asn1790=)
|
rs2141289053
|
|
NM_001376.5(DYNC1H1):c.5405C>T (p.Pro1802Leu)
|
rs1346194464
|
|
NM_001376.5(DYNC1H1):c.5406A>G (p.Pro1802=)
|
rs1208208697
|
|
NM_001376.5(DYNC1H1):c.5421G>A (p.Lys1807=)
|
rs2141289066
|
|
NM_001376.5(DYNC1H1):c.5433+14C>T
|
rs2503740263
|
|
NM_001376.5(DYNC1H1):c.5433+14del
|
rs2141289090
|
|
NM_001376.5(DYNC1H1):c.5433+18C>T
|
rs1426122771
|
|
NM_001376.5(DYNC1H1):c.543A>C (p.Ser181=)
|
rs1287001828
|
|
NM_001376.5(DYNC1H1):c.5442G>A (p.Glu1814=)
|
rs1172992833
|
|
NM_001376.5(DYNC1H1):c.5443T>C (p.Leu1815=)
|
rs1445493379
|
|
NM_001376.5(DYNC1H1):c.5457A>G (p.Arg1819=)
|
rs780803791
|
|
NM_001376.5(DYNC1H1):c.5463T>G (p.Val1821=)
|
rs2503741719
|
|
NM_001376.5(DYNC1H1):c.5466A>G (p.Thr1822=)
|
rs1719155586
|
|
NM_001376.5(DYNC1H1):c.5469G>A (p.Arg1823=)
|
rs1387271247
|
|
NM_001376.5(DYNC1H1):c.549A>G (p.Glu183=)
|
rs2503679080
|
|
NM_001376.5(DYNC1H1):c.5553T>C (p.Thr1851=)
|
|
|
NM_001376.5(DYNC1H1):c.5564A>G (p.Gln1855Arg)
|
rs1164357880
|
|
NM_001376.5(DYNC1H1):c.5613G>A (p.Glu1871=)
|
rs2141289679
|
|
NM_001376.5(DYNC1H1):c.5619G>C (p.Leu1873=)
|
rs2503742028
|
|
NM_001376.5(DYNC1H1):c.5655T>G (p.Thr1885=)
|
rs538791873
|
|
NM_001376.5(DYNC1H1):c.5659C>T (p.Arg1887Cys)
|
rs748999002
|
|
NM_001376.5(DYNC1H1):c.5685C>T (p.Ala1895=)
|
rs1475165809
|
|
NM_001376.5(DYNC1H1):c.5700G>A (p.Leu1900=)
|
rs552313071
|
|
NM_001376.5(DYNC1H1):c.5703G>A (p.Gly1901=)
|
|
|
NM_001376.5(DYNC1H1):c.5716+12C>T
|
rs2141289754
|
|
NM_001376.5(DYNC1H1):c.5716+19C>G
|
rs2048194233
|
|
NM_001376.5(DYNC1H1):c.5716+8C>G
|
rs776909485
|
|
NM_001376.5(DYNC1H1):c.5717-16G>A
|
rs2503743828
|
|
NM_001376.5(DYNC1H1):c.5717-19_5717-18del
|
rs752503998
|
|
NM_001376.5(DYNC1H1):c.5717-20T>C
|
rs754700022
|
|
NM_001376.5(DYNC1H1):c.5717-7T>G
|
rs2141290370
|
|
NM_001376.5(DYNC1H1):c.5721T>G (p.Pro1907=)
|
rs1555409674
|
|
NM_001376.5(DYNC1H1):c.5763T>C (p.His1921=)
|
|
|
NM_001376.5(DYNC1H1):c.5766G>A (p.Gln1922=)
|
rs2503743920
|
|
NM_001376.5(DYNC1H1):c.5784A>G (p.Leu1928=)
|
rs2141290386
|
|
NM_001376.5(DYNC1H1):c.5799T>C (p.Asp1933=)
|
rs2503743945
|
|
NM_001376.5(DYNC1H1):c.57G>A (p.Ser19=)
|
rs917016410
|
|
NM_001376.5(DYNC1H1):c.5817+12del
|
rs2048205289
|
|
NM_001376.5(DYNC1H1):c.5817+20C>T
|
rs2048205441
|
|
NM_001376.5(DYNC1H1):c.5817+8A>G
|
rs2503743983
|
|
NM_001376.5(DYNC1H1):c.5818-11C>T
|
|
|
NM_001376.5(DYNC1H1):c.5853G>A (p.Val1951=)
|
|
|
NM_001376.5(DYNC1H1):c.5907G>T (p.Ser1969=)
|
rs758999145
|
|
NM_001376.5(DYNC1H1):c.5928G>A (p.Gln1976=)
|
|
|
NM_001376.5(DYNC1H1):c.5947C>T (p.Arg1983Cys)
|
rs866013244
|
|
NM_001376.5(DYNC1H1):c.5960A>G (p.Asn1987Ser)
|
rs957164618
|
|
NM_001376.5(DYNC1H1):c.5961C>T (p.Asn1987=)
|
rs1338681517
|
|
NM_001376.5(DYNC1H1):c.5973C>T (p.Asp1991=)
|
|
|
NM_001376.5(DYNC1H1):c.5977+10C>G
|
rs1196167446
|
|
NM_001376.5(DYNC1H1):c.5977+15C>G
|
rs779088000
|
|
NM_001376.5(DYNC1H1):c.5978-11C>T
|
|
|
NM_001376.5(DYNC1H1):c.5978-14C>T
|
rs1159091499
|
|
NM_001376.5(DYNC1H1):c.5978-20C>T
|
rs1185371070
|
|
NM_001376.5(DYNC1H1):c.5978-8A>G
|
rs1325985624
|
|
NM_001376.5(DYNC1H1):c.5985C>A (p.Ala1995=)
|
|
|
NM_001376.5(DYNC1H1):c.5996G>A (p.Cys1999Tyr)
|
rs1376892171
|
|
NM_001376.5(DYNC1H1):c.6006G>A (p.Leu2002=)
|
|
|
NM_001376.5(DYNC1H1):c.6021G>A (p.Lys2007=)
|
|
|
NM_001376.5(DYNC1H1):c.6033C>T (p.Asp2011=)
|
rs1567010039
|
|
NM_001376.5(DYNC1H1):c.603A>C (p.Glu201Asp)
|
rs2141269718
|
|
NM_001376.5(DYNC1H1):c.6042C>T (p.Ile2014=)
|
rs2152577495
|
|
NM_001376.5(DYNC1H1):c.6063C>A (p.Gly2021=)
|
rs567653098
|
|
NM_001376.5(DYNC1H1):c.60C>A (p.Ala20=)
|
rs1555407002
|
|
NM_001376.5(DYNC1H1):c.6132C>G (p.Pro2044=)
|
|
|
NM_001376.5(DYNC1H1):c.6136C>A (p.Arg2046=)
|
rs1400178483
|
|
NM_001376.5(DYNC1H1):c.6147C>T (p.Ile2049=)
|
rs752707211
|
|
NM_001376.5(DYNC1H1):c.6162G>A (p.Leu2054=)
|
rs1410944537
|
|
NM_001376.5(DYNC1H1):c.6207C>A (p.Ile2069=)
|
rs764354743
|
|
NM_001376.5(DYNC1H1):c.6210C>G (p.Val2070=)
|
rs898083162
|
|
NM_001376.5(DYNC1H1):c.621G>A (p.Leu207=)
|
rs2141269726
|
|
NM_001376.5(DYNC1H1):c.6221+15A>G
|
rs2503751180
|
|
NM_001376.5(DYNC1H1):c.6221+7A>G
|
|
|
NM_001376.5(DYNC1H1):c.6222-13T>C
|
|
|
NM_001376.5(DYNC1H1):c.6222-16T>C
|
rs767781777
|
|
NM_001376.5(DYNC1H1):c.6222-20C>T
|
rs200368499
|
|
NM_001376.5(DYNC1H1):c.6225A>G (p.Leu2075=)
|
|
|
NM_001376.5(DYNC1H1):c.6229G>A (p.Asp2077Asn)
|
|
|
NM_001376.5(DYNC1H1):c.6258T>C (p.Tyr2086=)
|
rs1254207934
|
|
NM_001376.5(DYNC1H1):c.6282G>A (p.Lys2094=)
|
rs2048244008
|
|
NM_001376.5(DYNC1H1):c.6291G>A (p.Leu2097=)
|
rs2048244099
|
|
NM_001376.5(DYNC1H1):c.6300A>G (p.Ala2100=)
|
rs1158486712
|
|
NM_001376.5(DYNC1H1):c.6300A>T (p.Ala2100=)
|
rs1158486712
|
|
NM_001376.5(DYNC1H1):c.6315A>G (p.Arg2105=)
|
|
|
NM_001376.5(DYNC1H1):c.6330G>A (p.Lys2110=)
|
|
|
NM_001376.5(DYNC1H1):c.6348G>A (p.Glu2116=)
|
rs2503752083
|
|
NM_001376.5(DYNC1H1):c.6396T>G (p.Pro2132=)
|
rs1057403701
|
|
NM_001376.5(DYNC1H1):c.639C>T (p.Ile213=)
|
rs2503679291
|
|
NM_001376.5(DYNC1H1):c.6405+8A>G
|
rs2152577861
|
|
NM_001376.5(DYNC1H1):c.6405+8dup
|
rs777021940
|
|
NM_001376.5(DYNC1H1):c.6406-12C>G
|
rs565676310
|
|
NM_001376.5(DYNC1H1):c.6406-20G>A
|
|
|
NM_001376.5(DYNC1H1):c.6406-3T>C
|
rs766725205
|
|
NM_001376.5(DYNC1H1):c.6406-4G>A
|
rs374602014
|
|
NM_001376.5(DYNC1H1):c.6406-4G>C
|
rs374602014
|
|
NM_001376.5(DYNC1H1):c.6406-5C>G
|
rs772237118
|
|
NM_001376.5(DYNC1H1):c.6406-5C>T
|
rs772237118
|
|
NM_001376.5(DYNC1H1):c.6429G>A (p.Glu2143=)
|
rs2152578130
|
|
NM_001376.5(DYNC1H1):c.6432G>A (p.Thr2144=)
|
rs904719505
|
|
NM_001376.5(DYNC1H1):c.646G>A (p.Val216Ile)
|
rs1595597624
|
|
NM_001376.5(DYNC1H1):c.6507G>A (p.Gln2169=)
|
rs2152578187
|
|
NM_001376.5(DYNC1H1):c.6531C>G (p.Ala2177=)
|
|
|
NM_001376.5(DYNC1H1):c.6549G>A (p.Lys2183=)
|
rs2048251272
|
|
NM_001376.5(DYNC1H1):c.654A>G (p.Lys218=)
|
rs1595597628
|
|
NM_001376.5(DYNC1H1):c.6583G>A (p.Asp2195Asn)
|
rs2503753861
|
|
NM_001376.5(DYNC1H1):c.6591A>G (p.Glu2197=)
|
|
|
NM_001376.5(DYNC1H1):c.660T>C (p.Cys220=)
|
rs2503679360
|
|
NM_001376.5(DYNC1H1):c.6618+13G>A
|
rs2503753996
|
|
NM_001376.5(DYNC1H1):c.6618+17C>T
|
|
|
NM_001376.5(DYNC1H1):c.6618+20T>C
|
rs2152578289
|
|
NM_001376.5(DYNC1H1):c.6619-14G>C
|
|
|
NM_001376.5(DYNC1H1):c.6621T>G (p.Val2207=)
|
rs776687845
|
|
NM_001376.5(DYNC1H1):c.6624C>A (p.Leu2208=)
|
rs1454893333
|
|
NM_001376.5(DYNC1H1):c.6639C>T (p.Ile2213=)
|
rs2048263117
|
|
NM_001376.5(DYNC1H1):c.6642C>T (p.Thr2214=)
|
|
|
NM_001376.5(DYNC1H1):c.6645G>A (p.Gln2215=)
|
rs2503756400
|
|
NM_001376.5(DYNC1H1):c.6672G>C (p.Gly2224=)
|
rs1456368943
|
|
NM_001376.5(DYNC1H1):c.6672G>T (p.Gly2224=)
|
rs1456368943
|
|
NM_001376.5(DYNC1H1):c.6678G>A (p.Ser2226=)
|
rs141898156
|
|
NM_001376.5(DYNC1H1):c.6711G>A (p.Leu2237=)
|
rs886050369
|
|
NM_001376.5(DYNC1H1):c.6721T>C (p.Leu2241=)
|
rs1175510296
|
|
NM_001376.5(DYNC1H1):c.6732C>G (p.Leu2244=)
|
rs572885000
|
|
NM_001376.5(DYNC1H1):c.6747T>C (p.Gly2249=)
|
rs754843552
|
|
NM_001376.5(DYNC1H1):c.6759C>T (p.Ile2253=)
|
rs1595615114
|
|
NM_001376.5(DYNC1H1):c.6801C>T (p.Thr2267=)
|
rs2503756824
|
|
NM_001376.5(DYNC1H1):c.6807C>T (p.Asp2269=)
|
rs2503756841
|
|
NM_001376.5(DYNC1H1):c.6822A>G (p.Glu2274=)
|
rs2152579128
|
|
NM_001376.5(DYNC1H1):c.6828A>G (p.Thr2276=)
|
rs2503756904
|
|
NM_001376.5(DYNC1H1):c.6857+10_6857+12del
|
rs773209855
|
|
NM_001376.5(DYNC1H1):c.6857+12T>A
|
rs1430096027
|
|
NM_001376.5(DYNC1H1):c.6857+14G>C
|
|
|
NM_001376.5(DYNC1H1):c.6857+17C>G
|
rs2152579172
|
|
NM_001376.5(DYNC1H1):c.6857+23_6857+26del
|
rs2503757014
|
|
NM_001376.5(DYNC1H1):c.6857+7C>T
|
rs1433768341
|
|
NM_001376.5(DYNC1H1):c.6857+9_6857+10delinsAA
|
rs1595615156
|
|
NM_001376.5(DYNC1H1):c.6858-12C>G
|
|
|
NM_001376.5(DYNC1H1):c.6858-14del
|
rs2503757635
|
|
NM_001376.5(DYNC1H1):c.6871G>A (p.Val2291Met)
|
rs779194599
|
|
NM_001376.5(DYNC1H1):c.6915C>T (p.Gly2305=)
|
|
|
NM_001376.5(DYNC1H1):c.6918T>C (p.Asp2306=)
|
rs2152579412
|
|
NM_001376.5(DYNC1H1):c.6939G>A (p.Glu2313=)
|
rs2048268228
|
|
NM_001376.5(DYNC1H1):c.6948C>T (p.Asn2316=)
|
rs2503757872
|
|
NM_001376.5(DYNC1H1):c.696T>C (p.Phe232=)
|
rs1037520835
|
|
NM_001376.5(DYNC1H1):c.6979T>C (p.Leu2327=)
|
rs2048268384
|
|
NM_001376.5(DYNC1H1):c.6981G>A (p.Leu2327=)
|
rs1555410008
|
|
NM_001376.5(DYNC1H1):c.6996C>T (p.Arg2332=)
|
rs2503757964
|
|
NM_001376.5(DYNC1H1):c.7011C>G (p.Pro2337=)
|
rs2048268828
|
|
NM_001376.5(DYNC1H1):c.7014+11T>A
|
rs748466861
|
|
NM_001376.5(DYNC1H1):c.7014+20T>C
|
rs1373000835
|
|
NM_001376.5(DYNC1H1):c.7014+9C>T
|
rs2152579483
|
|
NM_001376.5(DYNC1H1):c.7017G>T (p.Val2339=)
|
rs2152581480
|
|
NM_001376.5(DYNC1H1):c.7053G>A (p.Ala2351=)
|
rs1389824040
|
|
NM_001376.5(DYNC1H1):c.7053G>C (p.Ala2351=)
|
rs1389824040
|
|
NM_001376.5(DYNC1H1):c.7068G>T (p.Val2356=)
|
rs188714917
|
|
NM_001376.5(DYNC1H1):c.7086C>T (p.Val2362=)
|
|
|
NM_001376.5(DYNC1H1):c.7092C>T (p.Phe2364=)
|
rs757662901
|
|
NM_001376.5(DYNC1H1):c.7102G>A (p.Val2368Met)
|
rs781770062
|
|
NM_001376.5(DYNC1H1):c.7134C>T (p.Phe2378=)
|
rs1426620213
|
|
NM_001376.5(DYNC1H1):c.7135C>T (p.Leu2379=)
|
rs2048305907
|
|
NM_001376.5(DYNC1H1):c.7155C>T (p.Ile2385=)
|
rs1316740144
|
|
NM_001376.5(DYNC1H1):c.7158G>C (p.Pro2386=)
|
rs773186619
|
|
NM_001376.5(DYNC1H1):c.7182A>T (p.Ala2394=)
|
rs2152581580
|
|
NM_001376.5(DYNC1H1):c.7185G>T (p.Gln2395His)
|
rs752951988
|
|
NM_001376.5(DYNC1H1):c.7212G>C (p.Glu2404Asp)
|
rs779649338
|
|
NM_001376.5(DYNC1H1):c.7215G>A (p.Gly2405=)
|
rs1567012071
|
|
NM_001376.5(DYNC1H1):c.7239G>A (p.Leu2413=)
|
|
|
NM_001376.5(DYNC1H1):c.7242+19C>T
|
rs751848418
|
|
NM_001376.5(DYNC1H1):c.7242+8C>G
|
rs2503766074
|
|
NM_001376.5(DYNC1H1):c.7242+8C>T
|
rs2503766074
|
|
NM_001376.5(DYNC1H1):c.7243-15C>T
|
rs2503767718
|
|
NM_001376.5(DYNC1H1):c.7243-17C>T
|
rs2503767711
|
|
NM_001376.5(DYNC1H1):c.7243-4C>G
|
|
|
NM_001376.5(DYNC1H1):c.7243-9A>G
|
rs2503767728
|
|
NM_001376.5(DYNC1H1):c.7256C>T (p.Ala2419Val)
|
rs529589123
|
|
NM_001376.5(DYNC1H1):c.7257A>G (p.Ala2419=)
|
rs1466233504
|
|
NM_001376.5(DYNC1H1):c.7262C>T (p.Thr2421Met)
|
rs770803375
|
|
NM_001376.5(DYNC1H1):c.7266C>A (p.Ile2422=)
|
rs2152581938
|
|
NM_001376.5(DYNC1H1):c.7286C>G (p.Ser2429Cys)
|
rs1468721324
|
|
NM_001376.5(DYNC1H1):c.7302C>G (p.Thr2434=)
|
|
|
NM_001376.5(DYNC1H1):c.7314G>A (p.Glu2438=)
|
rs2152581987
|
|
NM_001376.5(DYNC1H1):c.7320C>T (p.Ala2440=)
|
|
|
NM_001376.5(DYNC1H1):c.7329G>A (p.Leu2443=)
|
rs1461600339
|
|
NM_001376.5(DYNC1H1):c.7332G>A (p.Glu2444=)
|
rs1212046786
|
|
NM_001376.5(DYNC1H1):c.7350A>G (p.Thr2450=)
|
|
|
NM_001376.5(DYNC1H1):c.7356G>T (p.Leu2452=)
|
rs2503768149
|
|
NM_001376.5(DYNC1H1):c.7386G>A (p.Leu2462=)
|
rs2503768242
|
|
NM_001376.5(DYNC1H1):c.7392G>A (p.Gln2464=)
|
rs2152582036
|
|
NM_001376.5(DYNC1H1):c.7409C>G (p.Ala2470Gly)
|
rs774419538
|
|
NM_001376.5(DYNC1H1):c.7409C>T (p.Ala2470Val)
|
rs774419538
|
|
NM_001376.5(DYNC1H1):c.7410G>T (p.Ala2470=)
|
rs139109090
|
|
NM_001376.5(DYNC1H1):c.7421C>T (p.Ala2474Val)
|
rs776990880
|
|
NM_001376.5(DYNC1H1):c.7424A>G (p.Asn2475Ser)
|
|
|
NM_001376.5(DYNC1H1):c.7428T>C (p.His2476=)
|
|
|
NM_001376.5(DYNC1H1):c.7449C>A (p.Ile2483=)
|
rs17541158
|
|
NM_001376.5(DYNC1H1):c.7456C>T (p.Leu2486=)
|
rs111562779
|
|
NM_001376.5(DYNC1H1):c.7461G>A (p.Glu2487=)
|
|
|
NM_001376.5(DYNC1H1):c.7473+18G>A
|
rs1221788075
|
|
NM_001376.5(DYNC1H1):c.7473+19C>T
|
|
|
NM_001376.5(DYNC1H1):c.7473+6G>A
|
rs1277006617
|
|
NM_001376.5(DYNC1H1):c.7497C>G (p.Leu2499=)
|
rs767105664
|
|
NM_001376.5(DYNC1H1):c.750C>T (p.Asn250=)
|
rs1595597676
|
|
NM_001376.5(DYNC1H1):c.7515C>T (p.Asp2505=)
|
rs2048322962
|
|
NM_001376.5(DYNC1H1):c.7536A>G (p.Ala2512=)
|
|
|
NM_001376.5(DYNC1H1):c.7536A>T (p.Ala2512=)
|
rs755913701
|
|
NM_001376.5(DYNC1H1):c.7539G>A (p.Glu2513=)
|
rs376901405
|
|
NM_001376.5(DYNC1H1):c.7549T>C (p.Tyr2517His)
|
rs1567012503
|
|
NM_001376.5(DYNC1H1):c.7583C>G (p.Thr2528Ser)
|
rs370219646
|
|
NM_001376.5(DYNC1H1):c.7584T>C (p.Thr2528=)
|
|
|
NM_001376.5(DYNC1H1):c.75G>A (p.Ala25=)
|
rs2503643802
|
|
NM_001376.5(DYNC1H1):c.7611T>C (p.Tyr2537=)
|
rs2152582431
|
|
NM_001376.5(DYNC1H1):c.7614+7A>G
|
|
|
NM_001376.5(DYNC1H1):c.7615-12C>A
|
rs1193724026
|
|
NM_001376.5(DYNC1H1):c.7615-14A>T
|
rs1358888197
|
|
NM_001376.5(DYNC1H1):c.7615-20A>G
|
rs2503771424
|
|
NM_001376.5(DYNC1H1):c.7615-6G>A
|
|
|
NM_001376.5(DYNC1H1):c.7615-8G>C
|
rs375161806
|
|
NM_001376.5(DYNC1H1):c.7623C>T (p.Ile2541=)
|
|
|
NM_001376.5(DYNC1H1):c.7625G>A (p.Ser2542Asn)
|
rs769101846
|
|
NM_001376.5(DYNC1H1):c.7638T>C (p.Ser2546=)
|
rs2503771674
|
|
NM_001376.5(DYNC1H1):c.7681A>G (p.Lys2561Glu)
|
rs766138702
|
|
NM_001376.5(DYNC1H1):c.7698T>C (p.Asp2566=)
|
rs2503771844
|
|
NM_001376.5(DYNC1H1):c.7713G>T (p.Thr2571=)
|
rs767434648
|
|
NM_001376.5(DYNC1H1):c.774+10C>T
|
rs2141269842
|
|
NM_001376.5(DYNC1H1):c.7749T>C (p.Thr2583=)
|
rs2152582718
|
|
NM_001376.5(DYNC1H1):c.775-20G>A
|
|
|
NM_001376.5(DYNC1H1):c.775-8T>A
|
rs2141270130
|
|
NM_001376.5(DYNC1H1):c.7758C>G (p.Ala2586=)
|
rs145487328
|
|
NM_001376.5(DYNC1H1):c.7779G>A (p.Leu2593=)
|
|
|
NM_001376.5(DYNC1H1):c.7800C>G (p.Gly2600=)
|
|
|
NM_001376.5(DYNC1H1):c.780C>G (p.Thr260=)
|
|
|
NM_001376.5(DYNC1H1):c.7818C>T (p.Phe2606=)
|
rs894300624
|
|
NM_001376.5(DYNC1H1):c.7824C>T (p.Ala2608=)
|
|
|
NM_001376.5(DYNC1H1):c.7839T>A (p.Pro2613=)
|
|
|
NM_001376.5(DYNC1H1):c.7842C>T (p.Asp2614=)
|
rs2503772306
|
|
NM_001376.5(DYNC1H1):c.7848+12A>G
|
|
|
NM_001376.5(DYNC1H1):c.7848+13G>A
|
rs1451487950
|
|
NM_001376.5(DYNC1H1):c.7848+13G>C
|
rs1451487950
|
|
NM_001376.5(DYNC1H1):c.7848+15del
|
rs2503772354
|
|
NM_001376.5(DYNC1H1):c.7848+21del
|
|
|
NM_001376.5(DYNC1H1):c.7848+9G>A
|
rs2048331082
|
|
NM_001376.5(DYNC1H1):c.7848+9G>T
|
rs2048331082
|
|
NM_001376.5(DYNC1H1):c.7849-7T>G
|
rs2048332125
|
|
NM_001376.5(DYNC1H1):c.7849-8C>T
|
rs2503772655
|
|
NM_001376.5(DYNC1H1):c.7860C>T (p.Leu2620=)
|
rs2503772695
|
|
NM_001376.5(DYNC1H1):c.7869C>T (p.Ser2623=)
|
|
|
NM_001376.5(DYNC1H1):c.7920G>A (p.Glu2640=)
|
rs140949915
|
|
NM_001376.5(DYNC1H1):c.7932A>T (p.Thr2644=)
|
rs1448318407
|
|
NM_001376.5(DYNC1H1):c.7941G>A (p.Gly2647=)
|
rs780976138
|
|
NM_001376.5(DYNC1H1):c.7953T>G (p.Ala2651=)
|
rs745456650
|
|
NM_001376.5(DYNC1H1):c.7962A>G (p.Gln2654=)
|
rs769488702
|
|
NM_001376.5(DYNC1H1):c.7968A>G (p.Gly2656=)
|
rs2048333565
|
|
NM_001376.5(DYNC1H1):c.7980G>A (p.Val2660=)
|
rs2048333674
|
|
NM_001376.5(DYNC1H1):c.7983G>A (p.Leu2661=)
|
rs1231462535
|
|
NM_001376.5(DYNC1H1):c.8002T>C (p.Leu2668=)
|
rs2048333929
|
|
NM_001376.5(DYNC1H1):c.8025G>C (p.Gly2675=)
|
rs1221039571
|
|
NM_001376.5(DYNC1H1):c.8031G>A (p.Gln2677=)
|
rs2503773244
|
|
NM_001376.5(DYNC1H1):c.8040A>T (p.Ile2680=)
|
rs924317887
|
|
NM_001376.5(DYNC1H1):c.8055+10T>C
|
|
|
NM_001376.5(DYNC1H1):c.8056-12C>T
|
rs769278657
|
|
NM_001376.5(DYNC1H1):c.8056-16C>G
|
|
|
NM_001376.5(DYNC1H1):c.8056-9T>A
|
rs2503773646
|
|
NM_001376.5(DYNC1H1):c.8077T>C (p.Tyr2693His)
|
rs2152583009
|
|
NM_001376.5(DYNC1H1):c.8082T>C (p.Arg2694=)
|
rs2152583019
|
|
NM_001376.5(DYNC1H1):c.8118C>A (p.Ile2706=)
|
rs1595617981
|
|
NM_001376.5(DYNC1H1):c.8121G>A (p.Gln2707=)
|
rs1595617984
|
|
NM_001376.5(DYNC1H1):c.8130G>C (p.Gly2710=)
|
|
|
NM_001376.5(DYNC1H1):c.8130G>T (p.Gly2710=)
|
|
|
NM_001376.5(DYNC1H1):c.8157A>G (p.Gly2719=)
|
rs2152583049
|
|
NM_001376.5(DYNC1H1):c.8166C>G (p.Pro2722=)
|
rs1595618009
|
|
NM_001376.5(DYNC1H1):c.8169C>G (p.Leu2723=)
|
rs2152583056
|
|
NM_001376.5(DYNC1H1):c.8172A>T (p.Ser2724=)
|
|
|
NM_001376.5(DYNC1H1):c.8177+12C>T
|
rs367551573
|
|
NM_001376.5(DYNC1H1):c.8177+13G>C
|
rs779567607
|
|
NM_001376.5(DYNC1H1):c.8177+18A>G
|
rs749026404
|
|
NM_001376.5(DYNC1H1):c.8177+20T>A
|
|
|
NM_001376.5(DYNC1H1):c.8178-12A>C
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8178-12A>T
|
rs538986139
|
|
NM_001376.5(DYNC1H1):c.8178-7_8178-6del
|
rs902295597
|
|
NM_001376.5(DYNC1H1):c.8178-8G>A
|
rs758234041
|
|
NM_001376.5(DYNC1H1):c.8202G>C (p.Val2734=)
|
rs202023896
|
|
NM_001376.5(DYNC1H1):c.8232C>T (p.Leu2744=)
|
rs2503777355
|
|
NM_001376.5(DYNC1H1):c.8245G>A (p.Gly2749Ser)
|
|
|
NM_001376.5(DYNC1H1):c.8274C>T (p.Leu2758=)
|
rs2503777485
|
|
NM_001376.5(DYNC1H1):c.8289G>T (p.Arg2763=)
|
rs2048351261
|
|
NM_001376.5(DYNC1H1):c.8298A>G (p.Ala2766=)
|
|
|
NM_001376.5(DYNC1H1):c.8336T>C (p.Met2779Thr)
|
|
|
NM_001376.5(DYNC1H1):c.8343+13del
|
|
|
NM_001376.5(DYNC1H1):c.8343+19C>G
|
rs2152583858
|
|
NM_001376.5(DYNC1H1):c.8344-17T>C
|
rs2048365944
|
|
NM_001376.5(DYNC1H1):c.8344-6C>T
|
rs1368350839
|
|
NM_001376.5(DYNC1H1):c.8400T>C (p.Thr2800=)
|
rs995585686
|
|
NM_001376.5(DYNC1H1):c.8448G>A (p.Leu2816=)
|
rs2503781302
|
|
NM_001376.5(DYNC1H1):c.8463C>G (p.Leu2821=)
|
rs2503781328
|
|
NM_001376.5(DYNC1H1):c.8464A>G (p.Ile2822Val)
|
|
|
NM_001376.5(DYNC1H1):c.8487T>C (p.Ala2829=)
|
rs2152584655
|
|
NM_001376.5(DYNC1H1):c.8499C>T (p.Phe2833=)
|
rs1255566403
|
|
NM_001376.5(DYNC1H1):c.8507+10_8507+11del
|
rs2048367617
|
|
NM_001376.5(DYNC1H1):c.8507+12C>T
|
rs2503781517
|
|
NM_001376.5(DYNC1H1):c.8507+20C>T
|
|
|
NM_001376.5(DYNC1H1):c.8508-12C>T
|
|
|
NM_001376.5(DYNC1H1):c.8508-13G>C
|
|
|
NM_001376.5(DYNC1H1):c.8508-19C>T
|
rs761304880
|
|
NM_001376.5(DYNC1H1):c.8508-4A>G
|
rs2503789405
|
|
NM_001376.5(DYNC1H1):c.8508-8C>T
|
rs766389411
|
|
NM_001376.5(DYNC1H1):c.8512G>A (p.Val2838Ile)
|
rs1375241221
|
|
NM_001376.5(DYNC1H1):c.8538T>C (p.Thr2846=)
|
rs781437330
|
|
NM_001376.5(DYNC1H1):c.8550C>A (p.Ile2850=)
|
rs1057523253
|
|
NM_001376.5(DYNC1H1):c.8550C>T (p.Ile2850=)
|
rs1057523253
|
|
NM_001376.5(DYNC1H1):c.8565G>A (p.Leu2855=)
|
rs2749899
|
|
NM_001376.5(DYNC1H1):c.8574C>T (p.Phe2858=)
|
rs778246294
|
|
NM_001376.5(DYNC1H1):c.8610C>T (p.Pro2870=)
|
rs2152586433
|
|
NM_001376.5(DYNC1H1):c.8637+12G>T
|
rs17512551
|
|
NM_001376.5(DYNC1H1):c.8637+16C>G
|
|
|
NM_001376.5(DYNC1H1):c.8637+17A>G
|
rs2503789894
|
|
NM_001376.5(DYNC1H1):c.8638-4A>G
|
rs1462780464
|
|
NM_001376.5(DYNC1H1):c.8638-6C>T
|
rs750504892
|
|
NM_001376.5(DYNC1H1):c.8638-6del
|
rs2152588666
|
|
NM_001376.5(DYNC1H1):c.8646C>T (p.Ile2882=)
|
rs267603882
|
|
NM_001376.5(DYNC1H1):c.8664G>A (p.Glu2888=)
|
rs2152588686
|
|
NM_001376.5(DYNC1H1):c.8676T>C (p.Tyr2892=)
|
rs2503801474
|
|
NM_001376.5(DYNC1H1):c.8746C>T (p.Leu2916=)
|
rs2152588716
|
|
NM_001376.5(DYNC1H1):c.8748A>G (p.Leu2916=)
|
rs2503801603
|
|
NM_001376.5(DYNC1H1):c.8762G>A (p.Arg2921Lys)
|
rs746552692
|
|
NM_001376.5(DYNC1H1):c.8771+12T>G
|
rs2152588734
|
|
NM_001376.5(DYNC1H1):c.8771+15T>C
|
rs2152588738
|
|
NM_001376.5(DYNC1H1):c.8771+16G>T
|
rs2048455445
|
|
NM_001376.5(DYNC1H1):c.8771+17T>C
|
|
|
NM_001376.5(DYNC1H1):c.8771+20C>A
|
rs1595622944
|
|
NM_001376.5(DYNC1H1):c.8771+20C>T
|
rs1595622944
|
|
NM_001376.5(DYNC1H1):c.8772-10A>G
|
rs1595623155
|
|
NM_001376.5(DYNC1H1):c.8772-12G>C
|
rs368192451
|
|
NM_001376.5(DYNC1H1):c.8772-13C>T
|
rs2048460576
|
|
NM_001376.5(DYNC1H1):c.8772-16T>A
|
rs2503803277
|
|
NM_001376.5(DYNC1H1):c.87G>A (p.Val29=)
|
rs1465079070
|
|
NM_001376.5(DYNC1H1):c.8835C>G (p.Thr2945=)
|
rs1427975569
|
|
NM_001376.5(DYNC1H1):c.8835C>T (p.Thr2945=)
|
rs1427975569
|
|
NM_001376.5(DYNC1H1):c.8844T>C (p.Arg2948=)
|
|
|
NM_001376.5(DYNC1H1):c.8870G>A (p.Ser2957Asn)
|
rs370592448
|
|
NM_001376.5(DYNC1H1):c.8886+12C>G
|
|
|
NM_001376.5(DYNC1H1):c.8886+16G>A
|
rs2503803749
|
|
NM_001376.5(DYNC1H1):c.8886+19C>A
|
|
|
NM_001376.5(DYNC1H1):c.8887-14C>T
|
rs2503804081
|
|
NM_001376.5(DYNC1H1):c.8887-17T>C
|
rs2152589028
|
|
NM_001376.5(DYNC1H1):c.8892T>C (p.His2964=)
|
rs2152589034
|
|
NM_001376.5(DYNC1H1):c.8907G>C (p.Gly2969=)
|
|
|
NM_001376.5(DYNC1H1):c.8925T>C (p.Asp2975=)
|
rs1333836442
|
|
NM_001376.5(DYNC1H1):c.8931G>A (p.Arg2977=)
|
|
|
NM_001376.5(DYNC1H1):c.8937G>A (p.Val2979=)
|
|
|
NM_001376.5(DYNC1H1):c.8937G>T (p.Val2979=)
|
|
|
NM_001376.5(DYNC1H1):c.8964A>G (p.Glu2988=)
|
rs2503804320
|
|
NM_001376.5(DYNC1H1):c.8967G>A (p.Lys2989=)
|
rs2503804339
|
|
NM_001376.5(DYNC1H1):c.8994T>C (p.Asn2998=)
|
rs2503804432
|
|
NM_001376.5(DYNC1H1):c.9036G>A (p.Leu3012=)
|
rs2048463893
|
|
NM_001376.5(DYNC1H1):c.9039C>A (p.Ala3013=)
|
rs1462248476
|
|
NM_001376.5(DYNC1H1):c.9042T>C (p.Asn3014=)
|
rs2152589085
|
|
NM_001376.5(DYNC1H1):c.9048+13C>A
|
rs369228374
|
|
NM_001376.5(DYNC1H1):c.9048+13C>T
|
rs369228374
|
|
NM_001376.5(DYNC1H1):c.9048+14G>T
|
rs200027905
|
|
NM_001376.5(DYNC1H1):c.9048+18T>G
|
rs2503804575
|
|
NM_001376.5(DYNC1H1):c.9049-12G>A
|
rs766015574
|
|
NM_001376.5(DYNC1H1):c.9049-13T>C
|
rs368468406
|
|
NM_001376.5(DYNC1H1):c.9081C>T (p.Ala3027=)
|
rs1347326920
|
|
NM_001376.5(DYNC1H1):c.9087G>A (p.Leu3029=)
|
|
|
NM_001376.5(DYNC1H1):c.9109G>T (p.Ala3037Ser)
|
rs769817685
|
|
NM_001376.5(DYNC1H1):c.910T>C (p.Leu304=)
|
rs1566996718
|
|
NM_001376.5(DYNC1H1):c.9117G>A (p.Lys3039=)
|
rs2503805063
|
|
NM_001376.5(DYNC1H1):c.9138G>A (p.Ser3046=)
|
rs34338935
|
|
NM_001376.5(DYNC1H1):c.9141C>T (p.His3047=)
|
|
|
NM_001376.5(DYNC1H1):c.9153C>T (p.Tyr3051=)
|
rs1486071744
|
|
NM_001376.5(DYNC1H1):c.9174T>C (p.Val3058=)
|
|
|
NM_001376.5(DYNC1H1):c.9177C>T (p.Ile3059=)
|
rs2503805174
|
|
NM_001376.5(DYNC1H1):c.9180C>T (p.Arg3060=)
|
rs1555410949
|
|
NM_001376.5(DYNC1H1):c.9186C>A (p.Leu3062=)
|
|
|
NM_001376.5(DYNC1H1):c.9190G>A (p.Val3064Ile)
|
rs765818743
|
|
NM_001376.5(DYNC1H1):c.9213C>T (p.Ser3071=)
|
rs2152589199
|
|
NM_001376.5(DYNC1H1):c.9243A>G (p.Thr3081=)
|
rs1375725993
|
|
NM_001376.5(DYNC1H1):c.9263+12T>C
|
|
|
NM_001376.5(DYNC1H1):c.9263+7G>A
|
rs2048467310
|
|
NM_001376.5(DYNC1H1):c.9263+7G>C
|
rs2048467310
|
|
NM_001376.5(DYNC1H1):c.9264-13G>A
|
rs372927770
|
|
NM_001376.5(DYNC1H1):c.9264-15G>A
|
rs2048468776
|
|
NM_001376.5(DYNC1H1):c.9264-15G>C
|
rs2048468776
|
|
NM_001376.5(DYNC1H1):c.9264-17A>G
|
|
|
NM_001376.5(DYNC1H1):c.9276T>C (p.Asn3092=)
|
rs2048469022
|
|
NM_001376.5(DYNC1H1):c.927C>T (p.Arg309=)
|
rs2141270256
|
|
NM_001376.5(DYNC1H1):c.9282T>C (p.Phe3094=)
|
rs2152589292
|
|
NM_001376.5(DYNC1H1):c.9304C>T (p.Leu3102=)
|
rs1060504513
|
|
NM_001376.5(DYNC1H1):c.9306G>A (p.Leu3102=)
|
|
|
NM_001376.5(DYNC1H1):c.9332G>C (p.Ser3111Thr)
|
rs1395404099
|
|
NM_001376.5(DYNC1H1):c.9363C>G (p.Ile3121Met)
|
rs547968657
|
|
NM_001376.5(DYNC1H1):c.9369T>A (p.Pro3123=)
|
rs2503806167
|
|
NM_001376.5(DYNC1H1):c.936C>G (p.Ala312=)
|
rs2503680802
|
|
NM_001376.5(DYNC1H1):c.9402G>T (p.Pro3134=)
|
rs145095254
|
|
NM_001376.5(DYNC1H1):c.9411A>G (p.Pro3137=)
|
rs773989045
|
|
NM_001376.5(DYNC1H1):c.9420G>C (p.Arg3140=)
|
rs2503806380
|
|
NM_001376.5(DYNC1H1):c.9426C>G (p.Ala3142=)
|
|
|
NM_001376.5(DYNC1H1):c.9444G>T (p.Val3148=)
|
|
|
NM_001376.5(DYNC1H1):c.9468+14T>C
|
rs1474185720
|
|
NM_001376.5(DYNC1H1):c.9468+20C>A
|
rs760693848
|
|
NM_001376.5(DYNC1H1):c.9468+9A>G
|
rs750452823
|
|
NM_001376.5(DYNC1H1):c.9469-20A>G
|
rs2720210
|
|
NM_001376.5(DYNC1H1):c.9469-6T>C
|
rs562414207
|
|
NM_001376.5(DYNC1H1):c.9471G>A (p.Ala3157=)
|
rs151255069
|
|
NM_001376.5(DYNC1H1):c.9471G>T (p.Ala3157=)
|
rs151255069
|
|
NM_001376.5(DYNC1H1):c.9480G>C (p.Arg3160=)
|
rs2152590103
|
|
NM_001376.5(DYNC1H1):c.9496G>A (p.Gly3166Ser)
|
rs1393341368
|
|
NM_001376.5(DYNC1H1):c.9516C>T (p.Thr3172=)
|
rs2152590125
|
|
NM_001376.5(DYNC1H1):c.951C>T (p.Asp317=)
|
rs1306216043
|
|
NM_001376.5(DYNC1H1):c.9525C>T (p.His3175=)
|
|
|
NM_001376.5(DYNC1H1):c.9534C>T (p.Asp3178=)
|
rs2503810931
|
|
NM_001376.5(DYNC1H1):c.9552C>T (p.Ala3184=)
|
|
|
NM_001376.5(DYNC1H1):c.9573G>A (p.Arg3191=)
|
rs1555411131
|
|
NM_001376.5(DYNC1H1):c.9606C>T (p.Asn3202=)
|
rs917256595
|
|
NM_001376.5(DYNC1H1):c.961+16A>G
|
rs2503680872
|
|
NM_001376.5(DYNC1H1):c.9615C>G (p.Leu3205=)
|
rs1209904325
|
|
NM_001376.5(DYNC1H1):c.9615C>T (p.Leu3205=)
|
rs1209904325
|
|
NM_001376.5(DYNC1H1):c.9618G>A (p.Arg3206=)
|
rs2152590176
|
|
NM_001376.5(DYNC1H1):c.962-10del
|
rs2141272242
|
|
NM_001376.5(DYNC1H1):c.962-12C>G
|
rs2047886523
|
|
NM_001376.5(DYNC1H1):c.962-16T>G
|
rs2141272236
|
|
NM_001376.5(DYNC1H1):c.962-16_962-15del
|
|
|
NM_001376.5(DYNC1H1):c.962-18C>G
|
rs1042127573
|
|
NM_001376.5(DYNC1H1):c.962-18C>T
|
|
|
NM_001376.5(DYNC1H1):c.9636C>T (p.Val3212=)
|
rs2295445
|
|
NM_001376.5(DYNC1H1):c.9642+20T>C
|
rs2503811366
|
|
NM_001376.5(DYNC1H1):c.9642+4C>A
|
rs773101138
|
|
NM_001376.5(DYNC1H1):c.9643-11T>C
|
rs2152590232
|
|
NM_001376.5(DYNC1H1):c.9643-14G>T
|
rs2503811733
|
|
NM_001376.5(DYNC1H1):c.9643-20G>T
|
rs2152590226
|
|
NM_001376.5(DYNC1H1):c.9643-5T>C
|
rs1057522736
|
|
NM_001376.5(DYNC1H1):c.9643-7T>C
|
rs780903072
|
|
NM_001376.5(DYNC1H1):c.964C>T (p.Leu322=)
|
rs2047886730
|
|
NM_001376.5(DYNC1H1):c.966A>G (p.Leu322=)
|
rs2503685224
|
|
NM_001376.5(DYNC1H1):c.9711T>C (p.Asn3237=)
|
rs2503811965
|
|
NM_001376.5(DYNC1H1):c.9720G>A (p.Leu3240=)
|
rs2048491223
|
|
NM_001376.5(DYNC1H1):c.9763-11C>T
|
rs2048494745
|
|
NM_001376.5(DYNC1H1):c.9763-18G>C
|
rs2503813161
|
|
NM_001376.5(DYNC1H1):c.9763-6T>C
|
rs2152590376
|
|
NM_001376.5(DYNC1H1):c.9780C>T (p.Ile3260=)
|
rs1486174617
|
|
NM_001376.5(DYNC1H1):c.978G>A (p.Leu326=)
|
rs890130750
|
|
NM_001376.5(DYNC1H1):c.97C>T (p.His33Tyr)
|
rs903873576
|
|
NM_001376.5(DYNC1H1):c.9816A>G (p.Ala3272=)
|
rs2152590396
|
|
NM_001376.5(DYNC1H1):c.9855G>A (p.Val3285=)
|
rs751049685
|
|
NM_001376.5(DYNC1H1):c.9867C>T (p.Val3289=)
|
rs2048495390
|
|
NM_001376.5(DYNC1H1):c.9883+10G>A
|
rs2048495596
|
|
NM_001376.5(DYNC1H1):c.9883+12C>T
|
rs1595624651
|
|
NM_001376.5(DYNC1H1):c.9883+14G>C
|
rs2503813561
|
|
NM_001376.5(DYNC1H1):c.9883+14_9883+15del
|
rs2503813550
|
|
NM_001376.5(DYNC1H1):c.9883+17A>G
|
|
|
NM_001376.5(DYNC1H1):c.9883+20G>A
|
|
|
NM_001376.5(DYNC1H1):c.9884-13T>G
|
|
|
NM_001376.5(DYNC1H1):c.9884-17C>T
|
rs1595625498
|
|
NM_001376.5(DYNC1H1):c.9884-18A>T
|
rs2152591243
|
|
NM_001376.5(DYNC1H1):c.9884-19C>T
|
rs2503819463
|
|
NM_001376.5(DYNC1H1):c.9884-20C>G
|
rs2503819457
|
|
NM_001376.5(DYNC1H1):c.9884-7del
|
rs2503819525
|
|
NM_001376.5(DYNC1H1):c.9884-9G>T
|
rs2503819517
|
|
NM_001376.5(DYNC1H1):c.9894G>A (p.Ser3298=)
|
|
|
NM_001376.5(DYNC1H1):c.9903G>A (p.Lys3301=)
|
rs374398934
|
|
NM_001376.5(DYNC1H1):c.9924G>A (p.Arg3308=)
|
rs2503819612
|
|
NM_001376.5(DYNC1H1):c.9939T>C (p.Pro3313=)
|
rs2503819648
|
|
NM_001376.5(DYNC1H1):c.9960G>T (p.Ala3320=)
|
rs746026558
|
|
NM_001376.5(DYNC1H1):c.996C>T (p.Tyr332=)
|
rs2047887024
|
|
NM_001376.5(DYNC1H1):c.9996C>G (p.Thr3332=)
|
rs1404578827
|
|
NM_001376.5(DYNC1H1):c.9999A>C (p.Thr3333=)
|
rs780234934
|
|
NM_001376.5(DYNC1H1):c.9999A>G (p.Thr3333=)
|
rs780234934
|
|
NM_001376.5(DYNC1H1):c.99C>T (p.His33=)
|
rs1347832786
|
|
NM_001376.5(DYNC1H1):c.9G>A (p.Glu3=)
|
rs2503643394
|
|
NM_001540.5(HSPB1):c.120G>A (p.Glu40=)
|
rs1277569825
|
|
NM_001540.5(HSPB1):c.129G>A (p.Ser43=)
|
rs764071304
|
|
NM_001540.5(HSPB1):c.144C>A (p.Gly48=)
|
rs2536149189
|
|
NM_001540.5(HSPB1):c.144C>T (p.Gly48=)
|
rs2536149189
|
|
NM_001540.5(HSPB1):c.159C>T (p.Gly53=)
|
rs748696628
|
|
NM_001540.5(HSPB1):c.171C>T (p.Pro57=)
|
rs887152183
|
|
NM_001540.5(HSPB1):c.183C>T (p.Ala61=)
|
rs760506471
|
|
NM_001540.5(HSPB1):c.18C>G (p.Val6=)
|
rs11547164
|
|
NM_001540.5(HSPB1):c.204G>C (p.Val68=)
|
rs1554614462
|
|
NM_001540.5(HSPB1):c.225C>T (p.Arg75=)
|
rs535398122
|
|
NM_001540.5(HSPB1):c.27G>T (p.Ser9=)
|
rs1232413726
|
|
NM_001540.5(HSPB1):c.318G>A (p.Pro106=)
|
rs750349055
|
|
NM_001540.5(HSPB1):c.318G>C (p.Pro106=)
|
rs750349055
|
|
NM_001540.5(HSPB1):c.327G>A (p.Leu109=)
|
rs112731839
|
|
NM_001540.5(HSPB1):c.330G>A (p.Thr110=)
|
|
|
NM_001540.5(HSPB1):c.364+11C>G
|
rs1381997957
|
|
NM_001540.5(HSPB1):c.364+13G>A
|
rs1468075489
|
|
NM_001540.5(HSPB1):c.364+13G>C
|
rs1468075489
|
|
NM_001540.5(HSPB1):c.364+7C>T
|
rs1803032707
|
|
NM_001540.5(HSPB1):c.365-10C>A
|
rs760390744
|
|
NM_001540.5(HSPB1):c.365-10C>T
|
rs760390744
|
|
NM_001540.5(HSPB1):c.365-16C>T
|
|
|
NM_001540.5(HSPB1):c.365-5C>A
|
rs368936457
|
|
NM_001540.5(HSPB1):c.365-5C>T
|
rs368936457
|
|
NM_001540.5(HSPB1):c.365-5del
|
rs759570569
|
|
NM_001540.5(HSPB1):c.365-6C>A
|
rs200902768
|
|
NM_001540.5(HSPB1):c.365-6C>G
|
rs200902768
|
|
NM_001540.5(HSPB1):c.372C>T (p.His124=)
|
rs145243219
|
|
NM_001540.5(HSPB1):c.390G>A (p.Glu130=)
|
|
|
NM_001540.5(HSPB1):c.408G>A (p.Arg136=)
|
|
|
NM_001540.5(HSPB1):c.428+20C>T
|
|
|
NM_001540.5(HSPB1):c.428+9T>C
|
rs1424157184
|
|
NM_001540.5(HSPB1):c.429-16CT[2]
|
rs777977877
|
|
NM_001540.5(HSPB1):c.429-4C>T
|
rs2536151647
|
|
NM_001540.5(HSPB1):c.432G>A (p.Leu144=)
|
rs1563652837
|
|
NM_001540.5(HSPB1):c.435C>T (p.Pro145=)
|
rs1803067158
|
|
NM_001540.5(HSPB1):c.459T>C (p.Val153=)
|
rs1803068085
|
|
NM_001540.5(HSPB1):c.474C>T (p.Ser158=)
|
rs1376476758
|
|
NM_001540.5(HSPB1):c.477T>G (p.Pro159=)
|
rs1355722650
|
|
NM_001540.5(HSPB1):c.492C>T (p.Thr164=)
|
|
|
NM_001540.5(HSPB1):c.555C>T (p.Phe185=)
|
rs533051169
|
|
NM_001540.5(HSPB1):c.612C>T (p.Ala204=)
|
rs2536152145
|
|
NM_001540.5(HSPB1):c.99C>T (p.Phe33=)
|
rs762032846
|
|
NM_001605.3(AARS1):c.100T>C (p.Leu34=)
|
rs201111277
|
|
NM_001605.3(AARS1):c.1041T>C (p.Ala347=)
|
rs1567606953
|
|
NM_001605.3(AARS1):c.1044G>A (p.Thr348=)
|
rs181264712
|
|
NM_001605.3(AARS1):c.1050G>A (p.Val350=)
|
rs2507013924
|
|
NM_001605.3(AARS1):c.1068C>G (p.Ser356=)
|
rs1960313873
|
|
NM_001605.3(AARS1):c.1071+15C>A
|
rs1310673800
|
|
NM_001605.3(AARS1):c.1071+15C>T
|
rs1310673800
|
|
NM_001605.3(AARS1):c.1072-10C>A
|
rs1379999969
|
|
NM_001605.3(AARS1):c.1072-10C>T
|
rs1379999969
|
|
NM_001605.3(AARS1):c.1072-12C>T
|
rs2507012844
|
|
NM_001605.3(AARS1):c.1072-18T>C
|
rs1294272800
|
|
NM_001605.3(AARS1):c.1074A>C (p.Gly358=)
|
|
|
NM_001605.3(AARS1):c.1083T>C (p.Phe361=)
|
rs2152160273
|
|
NM_001605.3(AARS1):c.108C>T (p.Asp36=)
|
rs771930909
|
|
NM_001605.3(AARS1):c.1122C>T (p.Ile374=)
|
rs752057589
|
|
NM_001605.3(AARS1):c.1125T>C (p.Ile375=)
|
rs2507012722
|
|
NM_001605.3(AARS1):c.1143G>A (p.Gln381=)
|
rs778064460
|
|
NM_001605.3(AARS1):c.1149C>G (p.Leu383=)
|
|
|
NM_001605.3(AARS1):c.1155T>G (p.Thr385=)
|
rs571095888
|
|
NM_001605.3(AARS1):c.1167G>T (p.Gly389=)
|
rs1960296503
|
|
NM_001605.3(AARS1):c.1171C>A (p.Arg391Ser)
|
rs147580372
|
|
NM_001605.3(AARS1):c.117G>A (p.Leu39=)
|
rs2507037377
|
|
NM_001605.3(AARS1):c.1197C>T (p.Ser399=)
|
rs1004244836
|
|
NM_001605.3(AARS1):c.1200G>T (p.Leu400=)
|
rs2507012572
|
|
NM_001605.3(AARS1):c.1206C>T (p.Asp402=)
|
rs1202595047
|
|
NM_001605.3(AARS1):c.1209C>T (p.Ser403=)
|
rs769521539
|
|
NM_001605.3(AARS1):c.120C>T (p.Leu40=)
|
rs2152170372
|
|
NM_001605.3(AARS1):c.1215C>T (p.Thr405=)
|
rs1232873847
|
|
NM_001605.3(AARS1):c.1222+17G>A
|
rs755205317
|
|
NM_001605.3(AARS1):c.1222+19C>T
|
rs2507012469
|
|
NM_001605.3(AARS1):c.1222+7A>G
|
rs200591546
|
|
NM_001605.3(AARS1):c.1223-12T>C
|
|
|
NM_001605.3(AARS1):c.1223-18C>T
|
rs1960244758
|
|
NM_001605.3(AARS1):c.1223-9G>T
|
rs2152158800
|
|
NM_001605.3(AARS1):c.1227C>T (p.Asp409=)
|
|
|
NM_001605.3(AARS1):c.1251C>G (p.Thr417=)
|
rs749554524
|
|
NM_001605.3(AARS1):c.1254T>C (p.Tyr418=)
|
rs2507009642
|
|
NM_001605.3(AARS1):c.1263A>G (p.Pro421=)
|
rs756280590
|
|
NM_001605.3(AARS1):c.1272G>A (p.Leu424=)
|
rs1412346348
|
|
NM_001605.3(AARS1):c.1299C>T (p.Gly433=)
|
rs2507009562
|
|
NM_001605.3(AARS1):c.129T>C (p.Asn43=)
|
|
|
NM_001605.3(AARS1):c.1302G>C (p.Leu434=)
|
rs752566988
|
|
NM_001605.3(AARS1):c.1347+10T>A
|
rs1424574012
|
|
NM_001605.3(AARS1):c.1347+13G>C
|
|
|
NM_001605.3(AARS1):c.1347+16A>G
|
rs1403265579
|
|
NM_001605.3(AARS1):c.1347+19G>A
|
|
|
NM_001605.3(AARS1):c.1347+7A>G
|
rs2507009432
|
|
NM_001605.3(AARS1):c.1347+9C>T
|
rs1960241737
|
|
NM_001605.3(AARS1):c.1348-10T>A
|
rs760431632
|
|
NM_001605.3(AARS1):c.1348-11C>G
|
rs1332894937
|
|
NM_001605.3(AARS1):c.1348-20C>G
|
rs371734869
|
|
NM_001605.3(AARS1):c.1374T>G (p.Gly458=)
|
rs1960231629
|
|
NM_001605.3(AARS1):c.1377G>C (p.Gly459=)
|
rs1960231480
|
|
NM_001605.3(AARS1):c.144+14C>T
|
rs757604499
|
|
NM_001605.3(AARS1):c.144+19T>C
|
|
|
NM_001605.3(AARS1):c.144+7G>A
|
rs2507037308
|
|
NM_001605.3(AARS1):c.144+8T>C
|
rs2507037305
|
|
NM_001605.3(AARS1):c.145-15G>C
|
rs2152167095
|
|
NM_001605.3(AARS1):c.145-17C>A
|
rs375832841
|
|
NM_001605.3(AARS1):c.145-18G>T
|
rs2507029922
|
|
NM_001605.3(AARS1):c.1461C>T (p.Tyr487=)
|
rs1410121757
|
|
NM_001605.3(AARS1):c.1488C>T (p.Ser496=)
|
rs1057048498
|
|
NM_001605.3(AARS1):c.1492+10T>A
|
rs924593914
|
|
NM_001605.3(AARS1):c.1492+10TG[3]
|
rs758577376
|
|
NM_001605.3(AARS1):c.1492+13G>A
|
rs2152158273
|
|
NM_001605.3(AARS1):c.1492+14C>T
|
rs1177726856
|
|
NM_001605.3(AARS1):c.1492+15T>C
|
|
|
NM_001605.3(AARS1):c.1492+19T>C
|
rs749277642
|
|
NM_001605.3(AARS1):c.1492+7T>C
|
|
|
NM_001605.3(AARS1):c.1493-15A>G
|
rs2507003989
|
|
NM_001605.3(AARS1):c.1493-19A>G
|
rs541594672
|
|
NM_001605.3(AARS1):c.1493-8T>G
|
rs555205978
|
|
NM_001605.3(AARS1):c.1493-9C>A
|
rs780911124
|
|
NM_001605.3(AARS1):c.1506A>G (p.Thr502=)
|
|
|
NM_001605.3(AARS1):c.1515G>A (p.Thr505=)
|
rs1057518288
|
|
NM_001605.3(AARS1):c.153C>T (p.Pro51=)
|
rs1191170313
|
|
NM_001605.3(AARS1):c.1545C>T (p.Phe515=)
|
rs200578293
|
|
NM_001605.3(AARS1):c.1551A>G (p.Glu517=)
|
rs1597437798
|
|
NM_001605.3(AARS1):c.1560C>T (p.Ser520=)
|
rs1202489123
|
|
NM_001605.3(AARS1):c.1563A>G (p.Thr521=)
|
rs1273011840
|
|
NM_001605.3(AARS1):c.1572G>A (p.Glu524=)
|
|
|
NM_001605.3(AARS1):c.1587G>A (p.Leu529=)
|
rs886052255
|
|
NM_001605.3(AARS1):c.1590C>T (p.Asp530=)
|
rs1356370135
|
|
NM_001605.3(AARS1):c.1596C>T (p.Thr532=)
|
rs142181559
|
|
NM_001605.3(AARS1):c.162G>A (p.Leu54=)
|
rs2152167067
|
|
NM_001605.3(AARS1):c.1642C>T (p.Leu548=)
|
rs138409967
|
|
NM_001605.3(AARS1):c.1671+12G>C
|
rs2507003301
|
|
NM_001605.3(AARS1):c.1671+19C>T
|
|
|
NM_001605.3(AARS1):c.1671+20T>C
|
rs1052350295
|
|
NM_001605.3(AARS1):c.1671+8_1671+15del
|
rs752422246
|
|
NM_001605.3(AARS1):c.1671+9A>G
|
rs1013897408
|
|
NM_001605.3(AARS1):c.1672-15C>T
|
rs2507001262
|
|
NM_001605.3(AARS1):c.1672-7C>T
|
rs1294076779
|
|
NM_001605.3(AARS1):c.1710A>G (p.Gly570=)
|
rs2507000884
|
|
NM_001605.3(AARS1):c.1737C>G (p.Ile579Met)
|
rs144323646
|
|
NM_001605.3(AARS1):c.1746C>T (p.Asp582=)
|
rs2507000796
|
|
NM_001605.3(AARS1):c.1773G>A (p.Leu591=)
|
rs1960120310
|
|
NM_001605.3(AARS1):c.1785+10G>A
|
rs2507000670
|
|
NM_001605.3(AARS1):c.1785+10del
|
|
|
NM_001605.3(AARS1):c.1785+20C>T
|
rs1960119802
|
|
NM_001605.3(AARS1):c.1786-17C>A
|
|
|
NM_001605.3(AARS1):c.1786-7T>C
|
rs2152154564
|
|
NM_001605.3(AARS1):c.1809C>T (p.Ser603=)
|
|
|
NM_001605.3(AARS1):c.1824G>A (p.Thr608=)
|
rs199644417
|
|
NM_001605.3(AARS1):c.1824G>C (p.Thr608=)
|
rs199644417
|
|
NM_001605.3(AARS1):c.1824G>T (p.Thr608=)
|
|
|
NM_001605.3(AARS1):c.1827C>T (p.His609=)
|
rs1960071981
|
|
NM_001605.3(AARS1):c.1836C>T (p.Asn612=)
|
rs1555540045
|
|
NM_001605.3(AARS1):c.1851A>G (p.Ser617=)
|
rs2506998043
|
|
NM_001605.3(AARS1):c.1854G>A (p.Val618=)
|
rs2152154469
|
|
NM_001605.3(AARS1):c.1860G>C (p.Gly620=)
|
rs2152154460
|
|
NM_001605.3(AARS1):c.1902C>T (p.Leu634=)
|
rs2152154407
|
|
NM_001605.3(AARS1):c.1929C>T (p.Ala643=)
|
rs2506997815
|
|
NM_001605.3(AARS1):c.1953G>A (p.Lys651=)
|
rs771099188
|
|
NM_001605.3(AARS1):c.1956T>G (p.Ala652=)
|
rs1194294732
|
|
NM_001605.3(AARS1):c.1989C>T (p.Ala663=)
|
rs2152154316
|
|
NM_001605.3(AARS1):c.1992+12G>A
|
rs1597435765
|
|
NM_001605.3(AARS1):c.1992+19G>C
|
rs1960065308
|
|
NM_001605.3(AARS1):c.1993-13_1993-11del
|
rs1960041397
|
|
NM_001605.3(AARS1):c.1993-18G>C
|
rs2506996509
|
|
NM_001605.3(AARS1):c.1993-7C>T
|
rs753213408
|
|
NM_001605.3(AARS1):c.1993-8T>C
|
|
|
NM_001605.3(AARS1):c.2004C>T (p.Thr668=)
|
rs1283821119
|
|
NM_001605.3(AARS1):c.2025A>T (p.Ala675=)
|
rs745695764
|
|
NM_001605.3(AARS1):c.2037C>A (p.Ile679=)
|
|
|
NM_001605.3(AARS1):c.2049G>A (p.Arg683=)
|
rs1960038059
|
|
NM_001605.3(AARS1):c.2049G>T (p.Arg683=)
|
rs1960038059
|
|
NM_001605.3(AARS1):c.2082G>A (p.Val694=)
|
rs1960037082
|
|
NM_001605.3(AARS1):c.2091C>T (p.Val697=)
|
rs2506996253
|
|
NM_001605.3(AARS1):c.2100G>A (p.Gly700=)
|
rs2152153574
|
|
NM_001605.3(AARS1):c.2103C>A (p.Val701=)
|
rs1476539357
|
|
NM_001605.3(AARS1):c.2112C>A (p.Ser704=)
|
rs936240936
|
|
NM_001605.3(AARS1):c.2112C>G (p.Ser704=)
|
rs936240936
|
|
NM_001605.3(AARS1):c.2148C>T (p.Ser716=)
|
rs2506996113
|
|
NM_001605.3(AARS1):c.2149C>T (p.Leu717=)
|
rs2506996108
|
|
NM_001605.3(AARS1):c.2157T>C (p.Ser719=)
|
|
|
NM_001605.3(AARS1):c.2166C>A (p.Phe722Leu)
|
rs115882953
|
|
NM_001605.3(AARS1):c.2169T>C (p.Cys723=)
|
rs2152153481
|
|
NM_001605.3(AARS1):c.2177+11C>T
|
rs760490353
|
|
NM_001605.3(AARS1):c.2177+13del
|
rs1960032111
|
|
NM_001605.3(AARS1):c.2177+9T>A
|
rs2152153451
|
|
NM_001605.3(AARS1):c.2177+9T>G
|
rs2152153451
|
|
NM_001605.3(AARS1):c.2178-14G>T
|
rs371633904
|
|
NM_001605.3(AARS1):c.2178-17del
|
rs1249708049
|
|
NM_001605.3(AARS1):c.2178-4dup
|
rs1567602041
|
|
NM_001605.3(AARS1):c.2187G>A (p.Arg729=)
|
|
|
NM_001605.3(AARS1):c.2193G>A (p.Ser731=)
|
rs746349849
|
|
NM_001605.3(AARS1):c.2202A>T (p.Ala734=)
|
rs771192019
|
|
NM_001605.3(AARS1):c.2205A>T (p.Gly735=)
|
|
|
NM_001605.3(AARS1):c.2223G>C (p.Thr741=)
|
rs375400530
|
|
NM_001605.3(AARS1):c.2241G>A (p.Lys747=)
|
rs2506993242
|
|
NM_001605.3(AARS1):c.2248C>A (p.Arg750=)
|
rs751300562
|
|
NM_001605.3(AARS1):c.2259G>A (p.Val753=)
|
|
|
NM_001605.3(AARS1):c.225C>T (p.Cys75=)
|
rs2152167029
|
|
NM_001605.3(AARS1):c.2265C>T (p.Val755=)
|
rs1027921501
|
|
NM_001605.3(AARS1):c.2268A>C (p.Thr756=)
|
|
|
NM_001605.3(AARS1):c.2274C>T (p.Ala758=)
|
rs143430116
|
|
NM_001605.3(AARS1):c.2286+7A>G
|
rs1597433975
|
|
NM_001605.3(AARS1):c.2286+8G>A
|
rs1293817330
|
|
NM_001605.3(AARS1):c.2287-10C>T
|
rs780132815
|
|
NM_001605.3(AARS1):c.2287-12G>T
|
|
|
NM_001605.3(AARS1):c.2295G>A (p.Arg765=)
|
rs2506991204
|
|
NM_001605.3(AARS1):c.2307C>T (p.Ser769=)
|
rs2152150785
|
|
NM_001605.3(AARS1):c.231G>T (p.Arg77=)
|
rs2152167020
|
|
NM_001605.3(AARS1):c.2322C>G (p.Leu774=)
|
rs35769308
|
|
NM_001605.3(AARS1):c.2322C>T (p.Leu774=)
|
rs35769308
|
|
NM_001605.3(AARS1):c.2358T>C (p.Ala786=)
|
rs2152150749
|
|
NM_001605.3(AARS1):c.2382G>A (p.Glu794=)
|
rs2506991036
|
|
NM_001605.3(AARS1):c.2391C>T (p.Asp797=)
|
rs2152150720
|
|
NM_001605.3(AARS1):c.2400+18C>T
|
|
|
NM_001605.3(AARS1):c.2400+20C>T
|
rs1325468590
|
|
NM_001605.3(AARS1):c.2400+8C>A
|
rs113824201
|
|
NM_001605.3(AARS1):c.2400+8C>G
|
rs113824201
|
|
NM_001605.3(AARS1):c.2401-11A>C
|
rs377576408
|
|
NM_001605.3(AARS1):c.2401-11A>G
|
rs377576408
|
|
NM_001605.3(AARS1):c.2401-11A>T
|
rs377576408
|
|
NM_001605.3(AARS1):c.2401-13C>T
|
|
|
NM_001605.3(AARS1):c.2401-16C>G
|
rs372138128
|
|
NM_001605.3(AARS1):c.2401-18G>A
|
rs2506990079
|
|
NM_001605.3(AARS1):c.2421C>A (p.Ile807=)
|
rs768412428
|
|
NM_001605.3(AARS1):c.2448G>C (p.Arg816=)
|
|
|
NM_001605.3(AARS1):c.2457C>G (p.Leu819=)
|
rs1485047907
|
|
NM_001605.3(AARS1):c.2469G>A (p.Lys823=)
|
|
|
NM_001605.3(AARS1):c.2475C>T (p.Val825=)
|
rs1160997883
|
|
NM_001605.3(AARS1):c.2490C>T (p.Asp830=)
|
rs1959913262
|
|
NM_001605.3(AARS1):c.2506G>A (p.Asp836Asn)
|
rs1217292644
|
|
NM_001605.3(AARS1):c.2517A>G (p.Lys839=)
|
rs2506989750
|
|
NM_001605.3(AARS1):c.2520+12C>T
|
rs2506989718
|
|
NM_001605.3(AARS1):c.2520+18C>T
|
rs2506989705
|
|
NM_001605.3(AARS1):c.2520+7C>T
|
rs2506989730
|
|
NM_001605.3(AARS1):c.2521-11T>C
|
rs1959909082
|
|
NM_001605.3(AARS1):c.2521-12T>C
|
rs200328881
|
|
NM_001605.3(AARS1):c.2521-16G>A
|
rs2506989524
|
|
NM_001605.3(AARS1):c.2521-41_2521-16del
|
rs2506989529
|
|
NM_001605.3(AARS1):c.252C>T (p.Asp84=)
|
rs2507029648
|
|
NM_001605.3(AARS1):c.2577C>T (p.Ile859=)
|
rs1959906540
|
|
NM_001605.3(AARS1):c.2607+12G>C
|
rs1397401472
|
|
NM_001605.3(AARS1):c.2607+13C>A
|
rs766086262
|
|
NM_001605.3(AARS1):c.2607+14C>T
|
rs2506989223
|
|
NM_001605.3(AARS1):c.2607+17G>A
|
|
|
NM_001605.3(AARS1):c.2607+18G>A
|
rs760437667
|
|
NM_001605.3(AARS1):c.2607+18G>T
|
rs760437667
|
|
NM_001605.3(AARS1):c.2607+20C>G
|
rs1238512618
|
|
NM_001605.3(AARS1):c.2607+8A>G
|
rs1597432621
|
|
NM_001605.3(AARS1):c.2608-11C>G
|
rs2506988180
|
|
NM_001605.3(AARS1):c.2608-16C>G
|
rs371163247
|
|
NM_001605.3(AARS1):c.2608-17C>G
|
rs955702969
|
|
NM_001605.3(AARS1):c.2608-18G>T
|
rs2506988197
|
|
NM_001605.3(AARS1):c.2611C>T (p.Leu871=)
|
rs777889928
|
|
NM_001605.3(AARS1):c.2622C>T (p.Ala874=)
|
rs1597432428
|
|
NM_001605.3(AARS1):c.2667C>T (p.Leu889=)
|
|
|
NM_001605.3(AARS1):c.2706G>A (p.Leu902=)
|
rs1214694193
|
|
NM_001605.3(AARS1):c.270G>A (p.Lys90=)
|
rs1597446213
|
|
NM_001605.3(AARS1):c.2712A>G (p.Gln904=)
|
rs1555539241
|
|
NM_001605.3(AARS1):c.2715T>A (p.Val905=)
|
rs4081753
|
|
NM_001605.3(AARS1):c.2716C>G (p.Pro906Ala)
|
rs776897040
|
|
NM_001605.3(AARS1):c.2721+12C>T
|
rs773430117
|
|
NM_001605.3(AARS1):c.2721+14C>G
|
rs369055609
|
|
NM_001605.3(AARS1):c.2721+15G>A
|
rs377325175
|
|
NM_001605.3(AARS1):c.2721+15G>C
|
rs377325175
|
|
NM_001605.3(AARS1):c.2721+15G>T
|
rs377325175
|
|
NM_001605.3(AARS1):c.2721+17A>T
|
rs2152149667
|
|
NM_001605.3(AARS1):c.2721+20A>G
|
|
|
NM_001605.3(AARS1):c.2722-13T>G
|
|
|
NM_001605.3(AARS1):c.2722-20C>G
|
rs1302405393
|
|
NM_001605.3(AARS1):c.2722-7C>T
|
rs2152149455
|
|
NM_001605.3(AARS1):c.2722-9del
|
rs2506986986
|
|
NM_001605.3(AARS1):c.2724T>C (p.Asn908=)
|
rs2152149449
|
|
NM_001605.3(AARS1):c.2736G>T (p.Arg912=)
|
rs2506986914
|
|
NM_001605.3(AARS1):c.2748C>T (p.Ala916=)
|
rs2506986871
|
|
NM_001605.3(AARS1):c.276C>G (p.Val92=)
|
rs774991720
|
|
NM_001605.3(AARS1):c.2776T>C (p.Leu926=)
|
rs1597432045
|
|
NM_001605.3(AARS1):c.2811T>C (p.Ser937=)
|
rs2506986719
|
|
NM_001605.3(AARS1):c.2814A>C (p.Ala938=)
|
rs2506986710
|
|
NM_001605.3(AARS1):c.2838C>T (p.Gly946=)
|
rs1959873555
|
|
NM_001605.3(AARS1):c.2841C>T (p.Cys947=)
|
rs1555539162
|
|
NM_001605.3(AARS1):c.2842C>T (p.Leu948=)
|
|
|
NM_001605.3(AARS1):c.2860C>T (p.Leu954=)
|
rs1959872785
|
|
NM_001605.3(AARS1):c.2868T>G (p.Thr956=)
|
rs2506986561
|
|
NM_001605.3(AARS1):c.2874C>T (p.Phe958=)
|
|
|
NM_001605.3(AARS1):c.2889C>G (p.Leu963=)
|
rs75033663
|
|
NM_001605.3(AARS1):c.2889C>T (p.Leu963=)
|
rs75033663
|
|
NM_001605.3(AARS1):c.2906del (p.Asn968_Ter969insTer)
|
|
|
NM_001605.3(AARS1):c.294C>T (p.Phe98=)
|
|
|
NM_001605.3(AARS1):c.333+15G>A
|
rs1960566325
|
|
NM_001605.3(AARS1):c.333+18_333+20del
|
rs2152166939
|
|
NM_001605.3(AARS1):c.333+9A>T
|
|
|
NM_001605.3(AARS1):c.334-13_334-9del
|
|
|
NM_001605.3(AARS1):c.334-14T>G
|
rs2152166778
|
|
NM_001605.3(AARS1):c.334-15C>T
|
rs2507028829
|
|
NM_001605.3(AARS1):c.334-17C>T
|
|
|
NM_001605.3(AARS1):c.334-19CT[2]
|
rs1305114725
|
|
NM_001605.3(AARS1):c.336A>G (p.Glu112=)
|
rs759137116
|
|
NM_001605.3(AARS1):c.342A>C (p.Ala114=)
|
rs190680402
|
|
NM_001605.3(AARS1):c.342A>G (p.Ala114=)
|
rs190680402
|
|
NM_001605.3(AARS1):c.387C>T (p.Pro129=)
|
rs1960557000
|
|
NM_001605.3(AARS1):c.399T>G (p.Leu133=)
|
rs2507028646
|
|
NM_001605.3(AARS1):c.436T>C (p.Leu146=)
|
|
|
NM_001605.3(AARS1):c.453A>G (p.Glu151=)
|
rs765555696
|
|
NM_001605.3(AARS1):c.477G>A (p.Leu159=)
|
rs1960553997
|
|
NM_001605.3(AARS1):c.479+10C>A
|
rs1217365736
|
|
NM_001605.3(AARS1):c.479+10C>T
|
rs1217365736
|
|
NM_001605.3(AARS1):c.480-8T>G
|
rs751472610
|
|
NM_001605.3(AARS1):c.510C>T (p.Asn170=)
|
rs775904247
|
|
NM_001605.3(AARS1):c.543G>A (p.Thr181=)
|
rs900751261
|
|
NM_001605.3(AARS1):c.555T>A (p.Gly185=)
|
rs1238452818
|
|
NM_001605.3(AARS1):c.60G>A (p.Arg20=)
|
|
|
NM_001605.3(AARS1):c.618G>A (p.Gln206=)
|
rs139785247
|
|
NM_001605.3(AARS1):c.621C>T (p.Asp207=)
|
rs147424208
|
|
NM_001605.3(AARS1):c.636G>A (p.Leu212=)
|
rs1391746055
|
|
NM_001605.3(AARS1):c.639G>A (p.Glu213=)
|
rs2152163164
|
|
NM_001605.3(AARS1):c.651T>C (p.Leu217=)
|
rs1960409154
|
|
NM_001605.3(AARS1):c.671+15C>A
|
rs2507020459
|
|
NM_001605.3(AARS1):c.671+18C>A
|
rs1159729669
|
|
NM_001605.3(AARS1):c.672-15T>C
|
rs2507018166
|
|
NM_001605.3(AARS1):c.672-16C>T
|
rs202217812
|
|
NM_001605.3(AARS1):c.672-19C>G
|
rs746591739
|
|
NM_001605.3(AARS1):c.672-5T>A
|
rs777431545
|
|
NM_001605.3(AARS1):c.688C>T (p.Leu230=)
|
rs2507018051
|
|
NM_001605.3(AARS1):c.72G>C (p.Thr24=)
|
rs780609058
|
|
NM_001605.3(AARS1):c.736C>A (p.Arg246=)
|
rs756337758
|
|
NM_001605.3(AARS1):c.751C>T (p.Leu251=)
|
rs375106256
|
|
NM_001605.3(AARS1):c.774T>C (p.Tyr258=)
|
rs2152162118
|
|
NM_001605.3(AARS1):c.783C>T (p.Asp261=)
|
|
|
NM_001605.3(AARS1):c.798C>T (p.Tyr266=)
|
rs2507017775
|
|
NM_001605.3(AARS1):c.816+10C>G
|
rs780413612
|
|
NM_001605.3(AARS1):c.816+15G>T
|
rs1057248434
|
|
NM_001605.3(AARS1):c.816+20C>G
|
rs2507017669
|
|
NM_001605.3(AARS1):c.816+9G>C
|
|
|
NM_001605.3(AARS1):c.817-11C>G
|
rs775972443
|
|
NM_001605.3(AARS1):c.817-11C>T
|
rs775972443
|
|
NM_001605.3(AARS1):c.817-16del
|
rs2152161834
|
|
NM_001605.3(AARS1):c.817-3dup
|
rs2507016962
|
|
NM_001605.3(AARS1):c.817-4A>C
|
rs746210439
|
|
NM_001605.3(AARS1):c.822A>T (p.Thr274=)
|
rs757503544
|
|
NM_001605.3(AARS1):c.906T>C (p.Ala302=)
|
rs2507016731
|
|
NM_001605.3(AARS1):c.912C>G (p.Thr304=)
|
rs2152161707
|
|
NM_001605.3(AARS1):c.919G>A (p.Val307Met)
|
rs1316227824
|
|
NM_001605.3(AARS1):c.927G>A (p.Leu309=)
|
|
|
NM_001605.3(AARS1):c.939C>A (p.Gly313=)
|
|
|
NM_001605.3(AARS1):c.940C>A (p.Arg314=)
|
rs753667245
|
|
NM_001605.3(AARS1):c.942G>T (p.Arg314=)
|
rs1485304973
|
|
NM_001605.3(AARS1):c.962+10C>G
|
rs773573053
|
|
NM_001605.3(AARS1):c.962+11T>C
|
rs2507016449
|
|
NM_001605.3(AARS1):c.962+12G>A
|
|
|
NM_001605.3(AARS1):c.962+19G>C
|
rs1427580064
|
|
NM_001605.3(AARS1):c.962+7A>G
|
rs1437313946
|
|
NM_001605.3(AARS1):c.962+8T>C
|
rs2507016463
|
|
NM_001605.3(AARS1):c.963-12T>C
|
rs1191143824
|
|
NM_001605.3(AARS1):c.963-8T>C
|
rs1434858345
|
|
NM_001605.3(AARS1):c.96C>A (p.Ile32=)
|
rs369590315
|
|
NM_001605.3(AARS1):c.9T>C (p.Ser3=)
|
rs539360231
|
|
NM_002047.4(GARS1):c.1005C>T (p.Ser335=)
|
rs762074407
|
|
NM_002047.4(GARS1):c.1017A>G (p.Gly339=)
|
rs2534306101
|
|
NM_002047.4(GARS1):c.1023C>T (p.Ile341=)
|
rs2534306114
|
|
NM_002047.4(GARS1):c.1031+10A>T
|
rs1562776203
|
|
NM_002047.4(GARS1):c.1031+19T>C
|
rs766031000
|
|
NM_002047.4(GARS1):c.1031+9C>G
|
rs1264165904
|
|
NM_002047.4(GARS1):c.1032-20G>A
|
|
|
NM_002047.4(GARS1):c.1119T>C (p.Leu373=)
|
|
|
NM_002047.4(GARS1):c.1158C>G (p.Ser386=)
|
|
|
NM_002047.4(GARS1):c.1162C>A (p.Arg388=)
|
rs759277467
|
|
NM_002047.4(GARS1):c.1172G>A (p.Arg391His)
|
rs199832199
|
|
NM_002047.4(GARS1):c.1176G>A (p.Leu392=)
|
rs755314128
|
|
NM_002047.4(GARS1):c.117C>T (p.Ala39=)
|
rs751125111
|
|
NM_002047.4(GARS1):c.1194+12G>A
|
|
|
NM_002047.4(GARS1):c.1194+12G>C
|
rs777879141
|
|
NM_002047.4(GARS1):c.1194+15G>T
|
|
|
NM_002047.4(GARS1):c.1194+7T>C
|
|
|
NM_002047.4(GARS1):c.1195-8T>C
|
rs753036142
|
|
NM_002047.4(GARS1):c.1245C>T (p.Leu415=)
|
rs1584039354
|
|
NM_002047.4(GARS1):c.124C>A (p.Pro42Thr)
|
rs1049402
|
|
NM_002047.4(GARS1):c.12G>A (p.Pro4=)
|
rs775650014
|
|
NM_002047.4(GARS1):c.1407C>G (p.Leu469=)
|
rs2128135093
|
|
NM_002047.4(GARS1):c.141C>A (p.Pro47=)
|
rs947306374
|
|
NM_002047.4(GARS1):c.1428C>G (p.Thr476=)
|
rs1212959476
|
|
NM_002047.4(GARS1):c.1428C>T (p.Thr476=)
|
rs1212959476
|
|
NM_002047.4(GARS1):c.1468-20A>T
|
rs2534321268
|
|
NM_002047.4(GARS1):c.1468-6T>G
|
rs1584044490
|
|
NM_002047.4(GARS1):c.1497C>A (p.Pro499=)
|
rs1783029120
|
|
NM_002047.4(GARS1):c.1545G>C (p.Val515=)
|
|
|
NM_002047.4(GARS1):c.1551G>A (p.Glu517=)
|
rs2128135204
|
|
NM_002047.4(GARS1):c.1575C>T (p.Cys525=)
|
rs2534321569
|
|
NM_002047.4(GARS1):c.1578C>T (p.Tyr526=)
|
rs371268919
|
|
NM_002047.4(GARS1):c.1581T>A (p.Ile527=)
|
rs960876782
|
|
NM_002047.4(GARS1):c.1600C>T (p.Leu534=)
|
|
|
NM_002047.4(GARS1):c.1613+10C>A
|
rs2534321686
|
|
NM_002047.4(GARS1):c.1613+9T>A
|
rs75855065
|
|
NM_002047.4(GARS1):c.1614-17_1614-16del
|
rs1406879720
|
|
NM_002047.4(GARS1):c.1614-4G>C
|
rs376324026
|
|
NM_002047.4(GARS1):c.1614-5C>T
|
|
|
NM_002047.4(GARS1):c.1644A>G (p.Thr548=)
|
rs1783125064
|
|
NM_002047.4(GARS1):c.1695A>G (p.Leu565=)
|
rs747407060
|
|
NM_002047.4(GARS1):c.1699+23_1699+26del
|
rs1404348632
|
|
NM_002047.4(GARS1):c.1700-11C>G
|
rs965148390
|
|
NM_002047.4(GARS1):c.1700-6T>C
|
rs1562782730
|
|
NM_002047.4(GARS1):c.1719T>C (p.Asn573=)
|
rs1242186885
|
|
NM_002047.4(GARS1):c.1734C>T (p.Ser578=)
|
rs1252457690
|
|
NM_002047.4(GARS1):c.1743G>A (p.Leu581=)
|
rs370844461
|
|
NM_002047.4(GARS1):c.1746T>C (p.Gly582=)
|
rs1783174238
|
|
NM_002047.4(GARS1):c.1764A>T (p.Val588=)
|
rs1359108145
|
|
NM_002047.4(GARS1):c.1785A>G (p.Val595=)
|
rs2534331971
|
|
NM_002047.4(GARS1):c.1806A>G (p.Arg602=)
|
rs1314425578
|
|
NM_002047.4(GARS1):c.1809+10_1809+12del
|
rs747338292
|
|
NM_002047.4(GARS1):c.1809+12T>A
|
rs759542066
|
|
NM_002047.4(GARS1):c.1809+20G>A
|
rs758161145
|
|
NM_002047.4(GARS1):c.1809+8G>A
|
rs766137918
|
|
NM_002047.4(GARS1):c.1810-11A>C
|
|
|
NM_002047.4(GARS1):c.1810-12T>A
|
rs1562783874
|
|
NM_002047.4(GARS1):c.1810-4C>T
|
rs2534335817
|
|
NM_002047.4(GARS1):c.1851C>T (p.Ser617=)
|
rs377159922
|
|
NM_002047.4(GARS1):c.1869A>G (p.Gln623=)
|
|
|
NM_002047.4(GARS1):c.1881C>T (p.Phe627=)
|
|
|
NM_002047.4(GARS1):c.1893C>G (p.Val631=)
|
rs1216641572
|
|
NM_002047.4(GARS1):c.18A>G (p.Pro6=)
|
rs1584016961
|
|
NM_002047.4(GARS1):c.1903+16T>G
|
rs1203332360
|
|
NM_002047.4(GARS1):c.1903+18G>A
|
rs2128136216
|
|
NM_002047.4(GARS1):c.1904-11A>G
|
rs1554340778
|
|
NM_002047.4(GARS1):c.1914G>A (p.Leu638=)
|
rs2534337227
|
|
NM_002047.4(GARS1):c.1956G>T (p.Gly652=)
|
rs1783251236
|
|
NM_002047.4(GARS1):c.1977C>T (p.Ala659=)
|
rs746028145
|
|
NM_002047.4(GARS1):c.1992T>A (p.Ile664=)
|
rs1584055669
|
|
NM_002047.4(GARS1):c.2010C>T (p.Val670=)
|
rs186818221
|
|
NM_002047.4(GARS1):c.2013C>T (p.Thr671=)
|
|
|
NM_002047.4(GARS1):c.2055T>C (p.Thr685=)
|
rs2534337543
|
|
NM_002047.4(GARS1):c.2094+15C>G
|
|
|
NM_002047.4(GARS1):c.2094+18T>G
|
rs1238144409
|
|
NM_002047.4(GARS1):c.2095-16C>T
|
rs2128136434
|
|
NM_002047.4(GARS1):c.210A>C (p.Ala70=)
|
|
|
NM_002047.4(GARS1):c.216C>T (p.Arg72=)
|
rs769658988
|
|
NM_002047.4(GARS1):c.2187A>G (p.Gln729=)
|
rs778565344
|
|
NM_002047.4(GARS1):c.2219G>A (p.Ter740=)
|
rs905239894
|
|
NM_002047.4(GARS1):c.222+15C>A
|
|
|
NM_002047.4(GARS1):c.222+17C>A
|
rs1279836209
|
|
NM_002047.4(GARS1):c.261C>T (p.Pro87=)
|
rs1313937488
|
|
NM_002047.4(GARS1):c.315G>A (p.Leu105=)
|
rs2128132436
|
|
NM_002047.4(GARS1):c.324+17T>C
|
|
|
NM_002047.4(GARS1):c.324+19A>C
|
rs1249363035
|
|
NM_002047.4(GARS1):c.325-9C>A
|
rs770645408
|
|
NM_002047.4(GARS1):c.363A>G (p.Arg121=)
|
|
|
NM_002047.4(GARS1):c.375A>G (p.Glu125=)
|
rs2534288626
|
|
NM_002047.4(GARS1):c.435T>C (p.Ser145=)
|
rs2128132709
|
|
NM_002047.4(GARS1):c.474G>A (p.Lys158=)
|
rs2534290512
|
|
NM_002047.4(GARS1):c.569+20T>G
|
rs2128132727
|
|
NM_002047.4(GARS1):c.658+20T>C
|
rs1186910553
|
|
NM_002047.4(GARS1):c.69G>T (p.Arg23=)
|
rs762624758
|
|
NM_002047.4(GARS1):c.6C>T (p.Pro2=)
|
rs746437033
|
|
NM_002047.4(GARS1):c.711A>G (p.Ser237=)
|
rs1584026695
|
|
NM_002047.4(GARS1):c.722G>A (p.Ser241Asn)
|
rs775140242
|
|
NM_002047.4(GARS1):c.735+12A>G
|
rs2534294518
|
|
NM_002047.4(GARS1):c.735+14A>G
|
rs2534294526
|
|
NM_002047.4(GARS1):c.736-13A>T
|
rs767092534
|
|
NM_002047.4(GARS1):c.736-9G>A
|
rs773490381
|
|
NM_002047.4(GARS1):c.750A>G (p.Gly250=)
|
rs766799218
|
|
NM_002047.4(GARS1):c.759A>G (p.Glu253=)
|
rs1554337956
|
|
NM_002047.4(GARS1):c.780C>T (p.Asn260=)
|
rs2128133721
|
|
NM_002047.4(GARS1):c.837C>T (p.Asn279=)
|
rs1029686290
|
|
NM_002047.4(GARS1):c.855C>T (p.Phe285=)
|
rs786204099
|
|
NM_002047.4(GARS1):c.873C>T (p.Asn291=)
|
rs1280377387
|
|
NM_002047.4(GARS1):c.87G>T (p.Ser29=)
|
rs772356008
|
|
NM_002047.4(GARS1):c.881+15T>C
|
|
|
NM_002047.4(GARS1):c.881+17G>A
|
rs1791560409
|
|
NM_002047.4(GARS1):c.882-16T>G
|
rs1224733756
|
|
NM_002047.4(GARS1):c.885C>T (p.Tyr295=)
|
rs747874509
|
|
NM_002047.4(GARS1):c.900T>C (p.Thr300=)
|
rs1412593111
|
|
NM_002047.4(GARS1):c.909G>C (p.Gly303=)
|
rs2534305890
|
|
NM_002047.4(GARS1):c.969T>G (p.Ala323=)
|
rs2534305985
|
|
NM_002047.4(GARS1):c.972C>A (p.Ala324=)
|
rs764305863
|
|
NM_002047.4(GARS1):c.972C>T (p.Ala324=)
|
rs764305863
|
|
NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=)
|
rs2495994334
|
|
NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=)
|
rs2495994350
|
|
NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=)
|
rs757319859
|
|
NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=)
|
rs757319859
|
|
NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=)
|
rs2495994512
|
|
NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=)
|
rs1428895624
|
|
NM_002180.3(IGHMBP2):c.1060+18T>A
|
rs2495994979
|
|
NM_002180.3(IGHMBP2):c.1060+7G>A
|
rs2495994908
|
|
NM_002180.3(IGHMBP2):c.1060+8G>C
|
rs201147313
|
|
NM_002180.3(IGHMBP2):c.1060+9G>A
|
rs189297244
|
|
NM_002180.3(IGHMBP2):c.1061-16T>C
|
rs762825951
|
|
NM_002180.3(IGHMBP2):c.1061-17C>T
|
|
|
NM_002180.3(IGHMBP2):c.1061-20C>A
|
rs375085896
|
|
NM_002180.3(IGHMBP2):c.1061-20C>T
|
rs375085896
|
|
NM_002180.3(IGHMBP2):c.1061-7C>T
|
|
|
NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=)
|
rs529978266
|
|
NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=)
|
rs2154006530
|
|
NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=)
|
rs2496033602
|
|
NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=)
|
rs145314949
|
|
NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=)
|
rs2496034118
|
|
NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=)
|
rs1346976621
|
|
NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=)
|
rs2496034145
|
|
NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=)
|
rs2495941438
|
|
NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=)
|
rs1476873060
|
|
NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=)
|
rs1476873060
|
|
NM_002180.3(IGHMBP2):c.1218C>T (p.Pro406=)
|
|
|
NM_002180.3(IGHMBP2):c.1224A>G (p.Thr408=)
|
|
|
NM_002180.3(IGHMBP2):c.1235+10del
|
rs747881237
|
|
NM_002180.3(IGHMBP2):c.1235+13T>C
|
rs2496034806
|
|
NM_002180.3(IGHMBP2):c.1235+17_1235+25del
|
rs2496034811
|
|
NM_002180.3(IGHMBP2):c.1235+18_1235+27del
|
rs2496034836
|
|
NM_002180.3(IGHMBP2):c.1235+20_1235+21del
|
rs1224121012
|
|
NM_002180.3(IGHMBP2):c.1235+894C>G
|
rs1202430946
|
|
NM_002180.3(IGHMBP2):c.1236-17C>T
|
rs2496052361
|
|
NM_002180.3(IGHMBP2):c.1236-19T>A
|
rs1859384779
|
|
NM_002180.3(IGHMBP2):c.1236-4G>T
|
rs746867102
|
|
NM_002180.3(IGHMBP2):c.1236-6G>C
|
rs201538340
|
|
NM_002180.3(IGHMBP2):c.1236-6G>T
|
rs201538340
|
|
NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=)
|
rs756287157
|
|
NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=)
|
rs1168463338
|
|
NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=)
|
rs1306883563
|
|
NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=)
|
rs749343954
|
|
NM_002180.3(IGHMBP2):c.1275C>T (p.Arg425=)
|
|
|
NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=)
|
rs1203031897
|
|
NM_002180.3(IGHMBP2):c.1296G>C (p.Ala432=)
|
|
|
NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=)
|
rs1858064641
|
|
NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=)
|
rs763751517
|
|
NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=)
|
rs757100442
|
|
NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=)
|
rs1310664438
|
|
NM_002180.3(IGHMBP2):c.1392C>T (p.His464=)
|
rs2154008612
|
|
NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=)
|
rs1594451498
|
|
NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=)
|
rs147477786
|
|
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=)
|
rs147477786
|
|
NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=)
|
rs2496054390
|
|
NM_002180.3(IGHMBP2):c.1418+13G>T
|
rs1450898542
|
|
NM_002180.3(IGHMBP2):c.1419-10T>C
|
rs761701926
|
|
NM_002180.3(IGHMBP2):c.1419-12C>T
|
|
|
NM_002180.3(IGHMBP2):c.1419-17C>T
|
rs1566443635
|
|
NM_002180.3(IGHMBP2):c.1419-8T>C
|
rs1342803626
|
|
NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=)
|
rs2496056757
|
|
NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=)
|
rs781498577
|
|
NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=)
|
rs2154008650
|
|
NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=)
|
rs770256127
|
|
NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=)
|
rs370367228
|
|
NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=)
|
rs145226920
|
|
NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=)
|
rs767709025
|
|
NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=)
|
rs2496057403
|
|
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1524G>T (p.Ser508=)
|
rs747627986
|
|
NM_002180.3(IGHMBP2):c.1537+10C>T
|
rs776457480
|
|
NM_002180.3(IGHMBP2):c.1537+13G>A
|
rs751880
|
|
NM_002180.3(IGHMBP2):c.1537+15A>C
|
|
|
NM_002180.3(IGHMBP2):c.1537+17A>G
|
rs1164525405
|
|
NM_002180.3(IGHMBP2):c.1537+18T>C
|
rs2496057837
|
|
NM_002180.3(IGHMBP2):c.1538-11_1538-8del
|
rs1566444289
|
|
NM_002180.3(IGHMBP2):c.1538-20C>G
|
rs147148090
|
|
NM_002180.3(IGHMBP2):c.1538-4C>T
|
rs757915735
|
|
NM_002180.3(IGHMBP2):c.1538-7C>A
|
rs1237331506
|
|
NM_002180.3(IGHMBP2):c.1538-9T>A
|
rs2496061153
|
|
NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=)
|
rs746624957
|
|
NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=)
|
rs746624957
|
|
NM_002180.3(IGHMBP2):c.1575G>A (p.Leu525=)
|
|
|
NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=)
|
rs1461885178
|
|
NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)
|
rs2154008703
|
|
NM_002180.3(IGHMBP2):c.1632+12T>C
|
rs2496062322
|
|
NM_002180.3(IGHMBP2):c.1632+15T>A
|
rs1322539313
|
|
NM_002180.3(IGHMBP2):c.1632+19G>A
|
rs1313773250
|
|
NM_002180.3(IGHMBP2):c.1632+7G>A
|
rs1440674557
|
|
NM_002180.3(IGHMBP2):c.1632+8G>A
|
rs2496062285
|
|
NM_002180.3(IGHMBP2):c.1633-12C>G
|
rs1179336384
|
|
NM_002180.3(IGHMBP2):c.1633-7G>A
|
|
|
NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=)
|
rs2496065557
|
|
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala)
|
rs7122089
|
|
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=)
|
rs2154006537
|
|
NM_002180.3(IGHMBP2):c.1692C>G (p.Val564=)
|
|
|
NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=)
|
rs2154008770
|
|
NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=)
|
rs764732020
|
|
NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)
|
rs2495942045
|
|
NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=)
|
rs766884923
|
|
NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=)
|
rs2496066416
|
|
NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=)
|
rs765991240
|
|
NM_002180.3(IGHMBP2):c.1756+16C>T
|
|
|
NM_002180.3(IGHMBP2):c.1756+7A>G
|
rs2496066635
|
|
NM_002180.3(IGHMBP2):c.1757-13T>C
|
rs2496069767
|
|
NM_002180.3(IGHMBP2):c.1757-17C>T
|
rs2496069744
|
|
NM_002180.3(IGHMBP2):c.1757-19C>T
|
rs760163179
|
|
NM_002180.3(IGHMBP2):c.1757-4G>A
|
rs753421132
|
|
NM_002180.3(IGHMBP2):c.1757-4G>T
|
|
|
NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=)
|
rs776499527
|
|
NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=)
|
rs746014167
|
|
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)
|
rs376736864
|
|
NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=)
|
rs1483813825
|
|
NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=)
|
rs2496070318
|
|
NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=)
|
rs1164401206
|
|
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=)
|
rs768631087
|
|
NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=)
|
rs577924460
|
|
NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=)
|
rs2496070528
|
|
NM_002180.3(IGHMBP2):c.189G>A (p.Leu63=)
|
|
|
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=)
|
rs1555247971
|
|
NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=)
|
rs1555247978
|
|
NM_002180.3(IGHMBP2):c.195C>T (p.Val65=)
|
rs1858185956
|
|
NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=)
|
rs2496071555
|
|
NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=)
|
rs1308205831
|
|
NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=)
|
rs1859535346
|
|
NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp)
|
rs2154008864
|
|
NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=)
|
rs141375426
|
|
NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=)
|
rs540534910
|
|
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=)
|
rs773543257
|
|
NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=)
|
rs1342765347
|
|
NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=)
|
rs774145467
|
|
NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=)
|
rs1289494832
|
|
NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=)
|
rs2496073614
|
|
NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=)
|
rs2496073698
|
|
NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=)
|
rs2154008875
|
|
NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=)
|
rs2496074031
|
|
NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=)
|
rs2496074336
|
|
NM_002180.3(IGHMBP2):c.2286C>G (p.Ala762=)
|
|
|
NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=)
|
rs2496074589
|
|
NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=)
|
rs546382
|
|
NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=)
|
rs746660193
|
|
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=)
|
rs757779436
|
|
NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=)
|
rs2496075647
|
|
NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=)
|
rs2496075779
|
|
NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=)
|
rs1165471451
|
|
NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=)
|
rs915018099
|
|
NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=)
|
rs2154008918
|
|
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)
|
rs2154008920
|
|
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=)
|
rs1241285720
|
|
NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=)
|
rs2496076207
|
|
NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=)
|
rs756948501
|
|
NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=)
|
rs2228207
|
|
NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=)
|
rs1859570478
|
|
NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=)
|
rs764637193
|
|
NM_002180.3(IGHMBP2):c.256+14G>A
|
rs2495942919
|
|
NM_002180.3(IGHMBP2):c.256+17C>T
|
rs2495942947
|
|
NM_002180.3(IGHMBP2):c.256+20G>A
|
rs2495942984
|
|
NM_002180.3(IGHMBP2):c.2565C>G (p.Ala855=)
|
|
|
NM_002180.3(IGHMBP2):c.257-11T>G
|
rs372835712
|
|
NM_002180.3(IGHMBP2):c.257-15T>G
|
|
|
NM_002180.3(IGHMBP2):c.257-17A>C
|
rs2495949554
|
|
NM_002180.3(IGHMBP2):c.257-4G>A
|
rs1484354967
|
|
NM_002180.3(IGHMBP2):c.257-4G>C
|
|
|
NM_002180.3(IGHMBP2):c.257-5T>C
|
rs2154006685
|
|
NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=)
|
rs1859576703
|
|
NM_002180.3(IGHMBP2):c.2611+12A>G
|
rs2154008964
|
|
NM_002180.3(IGHMBP2):c.2611+14dup
|
rs2496077383
|
|
NM_002180.3(IGHMBP2):c.2611+17G>C
|
rs2496077406
|
|
NM_002180.3(IGHMBP2):c.2611+17_2611+19del
|
rs752300522
|
|
NM_002180.3(IGHMBP2):c.2611+7C>T
|
rs1343219004
|
|
NM_002180.3(IGHMBP2):c.2612-10T>C
|
rs2154009107
|
|
NM_002180.3(IGHMBP2):c.2612-12G>A
|
|
|
NM_002180.3(IGHMBP2):c.2612-15dup
|
rs2496080998
|
|
NM_002180.3(IGHMBP2):c.2612-20G>A
|
rs760287081
|
|
NM_002180.3(IGHMBP2):c.2612-4C>T
|
rs1859624339
|
|
NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=)
|
rs1858275561
|
|
NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=)
|
rs753346884
|
|
NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=)
|
rs764107109
|
|
NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=)
|
rs2495949724
|
|
NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=)
|
rs1594458491
|
|
NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=)
|
rs772280279
|
|
NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=)
|
rs917586167
|
|
NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=)
|
rs1859632484
|
|
NM_002180.3(IGHMBP2):c.2784+7C>G
|
rs58094037
|
|
NM_002180.3(IGHMBP2):c.2785-13G>T
|
rs756619770
|
|
NM_002180.3(IGHMBP2):c.2785-4C>G
|
rs1253746557
|
|
NM_002180.3(IGHMBP2):c.2785-4C>T
|
rs1253746557
|
|
NM_002180.3(IGHMBP2):c.2785-6C>T
|
rs1566449464
|
|
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
|
rs2496085934
|
|
NM_002180.3(IGHMBP2):c.2785-9C>T
|
rs1859669488
|
|
NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=)
|
rs761854167
|
|
NM_002180.3(IGHMBP2):c.2790T>C (p.His930=)
|
rs965426447
|
|
NM_002180.3(IGHMBP2):c.2817T>C (p.His939=)
|
rs1859671723
|
|
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=)
|
rs557641477
|
|
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=)
|
rs778821393
|
|
NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=)
|
rs2496086399
|
|
NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=)
|
rs759627672
|
|
NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=)
|
rs2496086517
|
|
NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=)
|
rs2495949848
|
|
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=)
|
rs752024072
|
|
NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=)
|
rs754721380
|
|
NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=)
|
rs2496086739
|
|
NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=)
|
rs2154009296
|
|
NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=)
|
rs149133485
|
|
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=)
|
rs773684186
|
|
NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=)
|
rs865849237
|
|
NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=)
|
rs2496087146
|
|
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=)
|
rs1281690554
|
|
NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=)
|
rs2154006693
|
|
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=)
|
rs1858280736
|
|
NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=)
|
rs1858067155
|
|
NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)
|
rs2495929486
|
|
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)
|
rs772920126
|
|
NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=)
|
rs2495950768
|
|
NM_002180.3(IGHMBP2):c.438G>A (p.Arg146=)
|
|
|
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=)
|
rs1594418098
|
|
NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=)
|
rs1594418098
|
|
NM_002180.3(IGHMBP2):c.449+13G>A
|
rs2495950929
|
|
NM_002180.3(IGHMBP2):c.449+7G>T
|
|
|
NM_002180.3(IGHMBP2):c.449+8G>C
|
rs2495950907
|
|
NM_002180.3(IGHMBP2):c.450-17G>C
|
rs776413057
|
|
NM_002180.3(IGHMBP2):c.450-4G>A
|
|
|
NM_002180.3(IGHMBP2):c.450-4G>T
|
|
|
NM_002180.3(IGHMBP2):c.450-6T>C
|
|
|
NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=)
|
rs752694569
|
|
NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=)
|
rs2154006722
|
|
NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=)
|
rs1334447515
|
|
NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=)
|
rs2495952025
|
|
NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=)
|
rs2495952058
|
|
NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=)
|
rs1858295479
|
|
NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=)
|
rs780311461
|
|
NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=)
|
rs780311461
|
|
NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=)
|
rs1338970087
|
|
NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=)
|
rs779086573
|
|
NM_002180.3(IGHMBP2):c.547+20C>G
|
rs778324431
|
|
NM_002180.3(IGHMBP2):c.547+20C>T
|
rs778324431
|
|
NM_002180.3(IGHMBP2):c.548-12C>T
|
rs1858429648
|
|
NM_002180.3(IGHMBP2):c.548-13G>A
|
rs1198884720
|
|
NM_002180.3(IGHMBP2):c.548-9C>T
|
rs760807097
|
|
NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=)
|
rs755103682
|
|
NM_002180.3(IGHMBP2):c.552G>T (p.Pro184=)
|
|
|
NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=)
|
rs1408189892
|
|
NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=)
|
rs1460306757
|
|
NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=)
|
rs141587272
|
|
NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=)
|
rs1280728139
|
|
NM_002180.3(IGHMBP2):c.612G>C (p.Leu204=)
|
|
|
NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=)
|
rs2495964744
|
|
NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=)
|
rs2495964752
|
|
NM_002180.3(IGHMBP2):c.711+12A>C
|
rs2154006952
|
|
NM_002180.3(IGHMBP2):c.711+15C>T
|
rs963088351
|
|
NM_002180.3(IGHMBP2):c.711+16C>T
|
rs2495965530
|
|
NM_002180.3(IGHMBP2):c.711+17A>G
|
rs1186155853
|
|
NM_002180.3(IGHMBP2):c.712-13T>C
|
rs2495980564
|
|
NM_002180.3(IGHMBP2):c.712-18C>T
|
rs757672548
|
|
NM_002180.3(IGHMBP2):c.712-5C>T
|
rs1273779717
|
|
NM_002180.3(IGHMBP2):c.712-9G>C
|
rs1257775828
|
|
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=)
|
rs76690064
|
|
NM_002180.3(IGHMBP2):c.729C>T (p.Pro243=)
|
|
|
NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=)
|
rs985694768
|
|
NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=)
|
rs1202016348
|
|
NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=)
|
rs2495981365
|
|
NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=)
|
rs199619824
|
|
NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=)
|
rs199619824
|
|
NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=)
|
rs1393255305
|
|
NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=)
|
rs2154007218
|
|
NM_002180.3(IGHMBP2):c.850T>C (p.Leu284=)
|
|
|
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)
|
rs147409148
|
|
NM_002180.3(IGHMBP2):c.86+7G>A
|
rs527948004
|
|
NM_002180.3(IGHMBP2):c.86+9G>A
|
rs2495930125
|
|
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg)
|
rs564645287
|
|
NM_002180.3(IGHMBP2):c.861C>T (p.Ser287=)
|
rs564645287
|
|
NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=)
|
rs2495982106
|
|
NM_002180.3(IGHMBP2):c.87-11G>A
|
rs371158900
|
|
NM_002180.3(IGHMBP2):c.87-12G>A
|
rs2495941210
|
|
NM_002180.3(IGHMBP2):c.87-13G>C
|
rs779643841
|
|
NM_002180.3(IGHMBP2):c.87-14C>G
|
rs375646306
|
|
NM_002180.3(IGHMBP2):c.87-18A>G
|
|
|
NM_002180.3(IGHMBP2):c.87-20C>A
|
rs1309712730
|
|
NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=)
|
rs1304304290
|
|
NM_002180.3(IGHMBP2):c.912+11T>C
|
rs373767876
|
|
NM_002180.3(IGHMBP2):c.912+13G>A
|
rs2495982658
|
|
NM_002180.3(IGHMBP2):c.912+15C>G
|
|
|
NM_002180.3(IGHMBP2):c.912+18T>C
|
rs1858596249
|
|
NM_002180.3(IGHMBP2):c.913-12T>A
|
|
|
NM_002180.3(IGHMBP2):c.913-6T>A
|
rs2154007472
|
|
NM_002180.3(IGHMBP2):c.913-8C>G
|
rs2495993722
|
|
NM_002180.3(IGHMBP2):c.915G>C (p.Val305=)
|
rs2495993762
|
|
NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=)
|
rs1858724192
|
|
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=)
|
rs1594431729
|
|
NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=)
|
rs2495994267
|
|
NM_004637.6(RAB7A):c.138G>C (p.Leu46=)
|
rs2529127269
|
|
NM_004637.6(RAB7A):c.150G>A (p.Val50=)
|
|
|
NM_004637.6(RAB7A):c.180+7A>G
|
rs1235702497
|
|
NM_004637.6(RAB7A):c.181-4A>T
|
rs1576303639
|
|
NM_004637.6(RAB7A):c.181-9C>T
|
rs2529138206
|
|
NM_004637.6(RAB7A):c.228C>G (p.Ala76=)
|
|
|
NM_004637.6(RAB7A):c.249C>T (p.Cys83=)
|
rs1933804580
|
|
NM_004637.6(RAB7A):c.294C>G (p.Thr98=)
|
rs935549352
|
|
NM_004637.6(RAB7A):c.366G>T (p.Val122=)
|
rs1285299585
|
|
NM_004637.6(RAB7A):c.375C>T (p.Asn125=)
|
rs2107615696
|
|
NM_004637.6(RAB7A):c.399+16G>T
|
|
|
NM_004637.6(RAB7A):c.399+19A>G
|
rs2107615708
|
|
NM_004637.6(RAB7A):c.400-13CTT[2]
|
rs970098374
|
|
NM_004637.6(RAB7A):c.400-15T>C
|
|
|
NM_004637.6(RAB7A):c.400-17C>G
|
rs762146227
|
|
NM_004637.6(RAB7A):c.400-6T>C
|
rs2529141177
|
|
NM_004637.6(RAB7A):c.414G>T (p.Arg138=)
|
rs754928233
|
|
NM_004637.6(RAB7A):c.528+9C>T
|
rs766544504
|
|
NM_004637.6(RAB7A):c.529-11T>G
|
rs1363669325
|
|
NM_004637.6(RAB7A):c.529-20T>G
|
rs775039955
|
|
NM_004637.6(RAB7A):c.529-6G>A
|
rs2107618412
|
|
NM_004637.6(RAB7A):c.53+7T>C
|
rs1933544756
|
|
NM_004637.6(RAB7A):c.53+9C>G
|
rs1559794648
|
|
NM_004637.6(RAB7A):c.531A>G (p.Glu177=)
|
rs2107618413
|
|
NM_004637.6(RAB7A):c.534G>A (p.Thr178=)
|
rs766818777
|
|
NM_004637.6(RAB7A):c.54-9C>T
|
rs1401390841
|
|
NM_004637.6(RAB7A):c.589C>G (p.Arg197Gly)
|
rs745507763
|
|
NM_004637.6(RAB7A):c.591G>C (p.Arg197=)
|
rs1933967815
|
|
NM_004637.6(RAB7A):c.603G>C (p.Ser201=)
|
rs61748098
|
|
NM_004637.6(RAB7A):c.621C>T (p.Cys207=)
|
rs747616052
|
|
NM_004637.6(RAB7A):c.84T>C (p.Tyr28=)
|
|
|
NM_004637.6(RAB7A):c.99C>T (p.Phe33=)
|
rs2529127228
|
|
NM_004990.4(MARS1):c.1059T>A (p.Ile353=)
|
rs1447677807
|
|
NM_004990.4(MARS1):c.109+16_109+21del
|
rs763091763
|
|
NM_004990.4(MARS1):c.109+19G>T
|
rs2540248950
|
|
NM_004990.4(MARS1):c.1091+9C>A
|
|
|
NM_004990.4(MARS1):c.1092-18C>T
|
rs747851443
|
|
NM_004990.4(MARS1):c.110-13A>T
|
rs2139996676
|
|
NM_004990.4(MARS1):c.110-5A>C
|
rs749110648
|
|
NM_004990.4(MARS1):c.110-5A>G
|
rs749110648
|
|
NM_004990.4(MARS1):c.1152G>T (p.Val384=)
|
|
|
NM_004990.4(MARS1):c.1170G>A (p.Glu390=)
|
|
|
NM_004990.4(MARS1):c.1221C>T (p.Phe407=)
|
rs2540291044
|
|
NM_004990.4(MARS1):c.1233G>A (p.Glu411=)
|
rs2540291082
|
|
NM_004990.4(MARS1):c.123G>C (p.Pro41=)
|
rs2540254210
|
|
NM_004990.4(MARS1):c.126C>T (p.Phe42=)
|
rs2540254236
|
|
NM_004990.4(MARS1):c.1284C>G (p.Val428=)
|
rs752350446
|
|
NM_004990.4(MARS1):c.1293+12G>T
|
|
|
NM_004990.4(MARS1):c.1293+9A>C
|
rs2540291240
|
|
NM_004990.4(MARS1):c.1293+9A>G
|
|
|
NM_004990.4(MARS1):c.1294-5C>G
|
rs149946100
|
|
NM_004990.4(MARS1):c.1294-6T>C
|
rs376010822
|
|
NM_004990.4(MARS1):c.1294-9C>T
|
|
|
NM_004990.4(MARS1):c.12C>T (p.Phe4=)
|
|
|
NM_004990.4(MARS1):c.1338G>C (p.Ser446=)
|
rs781410179
|
|
NM_004990.4(MARS1):c.1338G>T (p.Ser446=)
|
rs781410179
|
|
NM_004990.4(MARS1):c.1350G>A (p.Leu450=)
|
|
|
NM_004990.4(MARS1):c.1369-6T>C
|
rs1005635975
|
|
NM_004990.4(MARS1):c.1380A>C (p.Arg460=)
|
rs969557452
|
|
NM_004990.4(MARS1):c.1434C>T (p.Ala478=)
|
rs1594832520
|
|
NM_004990.4(MARS1):c.144C>A (p.Val48=)
|
rs1018358556
|
|
NM_004990.4(MARS1):c.1479C>G (p.Arg493=)
|
rs148191586
|
|
NM_004990.4(MARS1):c.147T>C (p.Pro49=)
|
rs1875707453
|
|
NM_004990.4(MARS1):c.1539+10del
|
rs1877538364
|
|
NM_004990.4(MARS1):c.1539+14T>G
|
rs2540312814
|
|
NM_004990.4(MARS1):c.1539+9C>T
|
|
|
NM_004990.4(MARS1):c.1540-16T>C
|
rs1555168244
|
|
NM_004990.4(MARS1):c.1540-18C>T
|
|
|
NM_004990.4(MARS1):c.1540-20T>C
|
|
|
NM_004990.4(MARS1):c.1540-6del
|
|
|
NM_004990.4(MARS1):c.1560T>C (p.Asp520=)
|
rs761092163
|
|
NM_004990.4(MARS1):c.1581C>T (p.Ser527=)
|
rs2140034173
|
|
NM_004990.4(MARS1):c.1635+11C>G
|
rs758827704
|
|
NM_004990.4(MARS1):c.1636-17T>G
|
rs2540313503
|
|
NM_004990.4(MARS1):c.174C>T (p.Tyr58=)
|
rs2540254563
|
|
NM_004990.4(MARS1):c.1753+16G>A
|
rs767925007
|
|
NM_004990.4(MARS1):c.1754-15T>C
|
rs1877581977
|
|
NM_004990.4(MARS1):c.1754-17C>G
|
rs771148854
|
|
NM_004990.4(MARS1):c.1754-6G>A
|
rs2540314741
|
|
NM_004990.4(MARS1):c.1779A>G (p.Lys593=)
|
|
|
NM_004990.4(MARS1):c.180C>T (p.Phe60=)
|
rs148642961
|
|
NM_004990.4(MARS1):c.1893T>C (p.Ser631=)
|
|
|
NM_004990.4(MARS1):c.1911C>T (p.Asp637=)
|
rs1208670823
|
|
NM_004990.4(MARS1):c.1917G>A (p.Leu639=)
|
|
|
NM_004990.4(MARS1):c.1967+11G>A
|
|
|
NM_004990.4(MARS1):c.1967+11G>C
|
|
|
NM_004990.4(MARS1):c.1967+12T>G
|
rs1877598107
|
|
NM_004990.4(MARS1):c.1967+15G>T
|
rs926503013
|
|
NM_004990.4(MARS1):c.1968-6A>C
|
rs2540318026
|
|
NM_004990.4(MARS1):c.2001C>A (p.Gly667=)
|
rs2140036969
|
|
NM_004990.4(MARS1):c.2001C>T (p.Gly667=)
|
rs2140036969
|
|
NM_004990.4(MARS1):c.201-10C>T
|
rs1594805977
|
|
NM_004990.4(MARS1):c.201-16C>T
|
rs1012096945
|
|
NM_004990.4(MARS1):c.2013G>A (p.Glu671=)
|
|
|
NM_004990.4(MARS1):c.2019G>A (p.Val673=)
|
rs1410869637
|
|
NM_004990.4(MARS1):c.2041C>T (p.Leu681=)
|
|
|
NM_004990.4(MARS1):c.2046G>T (p.Leu682=)
|
|
|
NM_004990.4(MARS1):c.2082G>A (p.Gln694=)
|
rs2540318409
|
|
NM_004990.4(MARS1):c.2088T>C (p.Leu696=)
|
rs2540318423
|
|
NM_004990.4(MARS1):c.2099+18_2099+19del
|
rs2140037113
|
|
NM_004990.4(MARS1):c.2099+6dup
|
rs760843251
|
|
NM_004990.4(MARS1):c.2100-4C>T
|
rs1253766413
|
|
NM_004990.4(MARS1):c.2139A>G (p.Arg713=)
|
rs1004552843
|
|
NM_004990.4(MARS1):c.2196G>A (p.Glu732=)
|
rs2540319088
|
|
NM_004990.4(MARS1):c.2199T>G (p.Ala733=)
|
|
|
NM_004990.4(MARS1):c.2204+14G>A
|
|
|
NM_004990.4(MARS1):c.2204+19T>C
|
rs1594836079
|
|
NM_004990.4(MARS1):c.2205-11_2205-9del
|
|
|
NM_004990.4(MARS1):c.2205-16G>A
|
rs2540319403
|
|
NM_004990.4(MARS1):c.2205-17T>C
|
|
|
NM_004990.4(MARS1):c.2205-18A>G
|
|
|
NM_004990.4(MARS1):c.2223G>C (p.Val741=)
|
rs2540319495
|
|
NM_004990.4(MARS1):c.2235A>C (p.Ala745=)
|
rs2140037595
|
|
NM_004990.4(MARS1):c.2256C>T (p.Leu752=)
|
rs201540140
|
|
NM_004990.4(MARS1):c.2262C>T (p.Val754=)
|
rs2540319633
|
|
NM_004990.4(MARS1):c.2295C>A (p.Ala765=)
|
rs2140037698
|
|
NM_004990.4(MARS1):c.2313G>A (p.Leu771=)
|
|
|
NM_004990.4(MARS1):c.2340C>A (p.Ile780=)
|
rs2140037772
|
|
NM_004990.4(MARS1):c.2370A>C (p.Pro790=)
|
rs1208671049
|
|
NM_004990.4(MARS1):c.2391+13G>A
|
rs2140037889
|
|
NM_004990.4(MARS1):c.2392-12C>A
|
rs1300179115
|
|
NM_004990.4(MARS1):c.2413T>C (p.Leu805=)
|
|
|
NM_004990.4(MARS1):c.2421T>C (p.Asn807=)
|
rs1057523185
|
|
NM_004990.4(MARS1):c.2463+17C>T
|
|
|
NM_004990.4(MARS1):c.2464-12G>A
|
rs1321321339
|
|
NM_004990.4(MARS1):c.2464-6C>T
|
rs1877818908
|
|
NM_004990.4(MARS1):c.2464-9_2464-7del
|
rs757191684
|
|
NM_004990.4(MARS1):c.2472G>A (p.Thr824=)
|
rs1594838097
|
|
NM_004990.4(MARS1):c.24C>T (p.Gly8=)
|
|
|
NM_004990.4(MARS1):c.2556+19del
|
|
|
NM_004990.4(MARS1):c.2557-11C>T
|
rs2140039574
|
|
NM_004990.4(MARS1):c.2557-12C>A
|
rs189933911
|
|
NM_004990.4(MARS1):c.2557-13C>A
|
rs781643044
|
|
NM_004990.4(MARS1):c.2557-13C>G
|
rs781643044
|
|
NM_004990.4(MARS1):c.2557-15C>A
|
rs2540323275
|
|
NM_004990.4(MARS1):c.2557-8T>C
|
rs2140039581
|
|
NM_004990.4(MARS1):c.2574A>G (p.Glu858=)
|
rs2140039637
|
|
NM_004990.4(MARS1):c.2577G>C (p.Leu859=)
|
rs1594838549
|
|
NM_004990.4(MARS1):c.2622G>C (p.Ala874=)
|
|
|
NM_004990.4(MARS1):c.2625A>G (p.Lys875=)
|
rs1877843153
|
|
NM_004990.4(MARS1):c.2629T>C (p.Leu877=)
|
rs2140039764
|
|
NM_004990.4(MARS1):c.2637A>G (p.Leu879=)
|
rs1594838666
|
|
NM_004990.4(MARS1):c.2655A>G (p.Val885=)
|
rs1594838715
|
|
NM_004990.4(MARS1):c.273G>A (p.Glu91=)
|
rs1386779593
|
|
NM_004990.4(MARS1):c.279+12G>T
|
|
|
NM_004990.4(MARS1):c.279+17G>A
|
rs2540256265
|
|
NM_004990.4(MARS1):c.279+18G>A
|
rs2139997523
|
|
NM_004990.4(MARS1):c.280-12C>A
|
rs1458146805
|
|
NM_004990.4(MARS1):c.280-19C>T
|
|
|
NM_004990.4(MARS1):c.315C>T (p.Val105=)
|
|
|
NM_004990.4(MARS1):c.414+11T>C
|
rs1875765721
|
|
NM_004990.4(MARS1):c.414+15G>C
|
|
|
NM_004990.4(MARS1):c.414+19T>A
|
|
|
NM_004990.4(MARS1):c.415-13A>G
|
rs779181351
|
|
NM_004990.4(MARS1):c.415-5C>T
|
|
|
NM_004990.4(MARS1):c.490+13C>T
|
|
|
NM_004990.4(MARS1):c.490+19A>G
|
rs1489404514
|
|
NM_004990.4(MARS1):c.491-10A>T
|
rs1252227801
|
|
NM_004990.4(MARS1):c.491-5C>A
|
rs761648454
|
|
NM_004990.4(MARS1):c.534C>T (p.Thr178=)
|
rs1466645533
|
|
NM_004990.4(MARS1):c.564T>C (p.Thr188=)
|
|
|
NM_004990.4(MARS1):c.618C>T (p.Pro206=)
|
rs2540261194
|
|
NM_004990.4(MARS1):c.663+14C>T
|
rs2540261398
|
|
NM_004990.4(MARS1):c.663+9T>C
|
rs74974479
|
|
NM_004990.4(MARS1):c.664-12C>T
|
rs1233946450
|
|
NM_004990.4(MARS1):c.664-5T>A
|
|
|
NM_004990.4(MARS1):c.681C>G (p.Thr227=)
|
|
|
NM_004990.4(MARS1):c.681C>T (p.Thr227=)
|
|
|
NM_004990.4(MARS1):c.72C>T (p.Gly24=)
|
rs1320124519
|
|
NM_004990.4(MARS1):c.770+11A>G
|
|
|
NM_004990.4(MARS1):c.770+17C>G
|
|
|
NM_004990.4(MARS1):c.770+19T>C
|
rs2540262583
|
|
NM_004990.4(MARS1):c.771-13C>G
|
rs764820016
|
|
NM_004990.4(MARS1):c.822C>T (p.Tyr274=)
|
rs373991803
|
|
NM_004990.4(MARS1):c.867C>T (p.Leu289=)
|
rs764870776
|
|
NM_004990.4(MARS1):c.873C>G (p.Ala291=)
|
rs79531790
|
|
NM_004990.4(MARS1):c.887+15T>A
|
|
|
NM_004990.4(MARS1):c.887+16C>G
|
rs767628528
|
|
NM_004990.4(MARS1):c.887+17G>A
|
rs201259473
|
|
NM_004990.4(MARS1):c.888-17A>G
|
rs762403976
|
|
NM_004990.4(MARS1):c.918C>T (p.Leu306=)
|
rs2540286726
|
|
NM_004990.4(MARS1):c.951A>C (p.Ala317=)
|
|
|
NM_004990.4(MARS1):c.966T>C (p.Ala322=)
|
rs1876752517
|
|
NM_004990.4(MARS1):c.972G>A (p.Glu324=)
|
rs755505329
|
|
NM_004990.4(MARS1):c.9G>C (p.Leu3=)
|
|
|
NM_005572.4(LMNA):c.1714C>G (p.Arg572Gly)
|
|
|
NM_006158.5(NEFL):c.1026C>A (p.Ala342=)
|
rs35596950
|
|
NM_006158.5(NEFL):c.1038T>C (p.Ala346=)
|
rs2117254129
|
|
NM_006158.5(NEFL):c.1044+10G>C
|
|
|
NM_006158.5(NEFL):c.1044+14A>C
|
|
|
NM_006158.5(NEFL):c.1044+17A>C
|
|
|
NM_006158.5(NEFL):c.1044+19C>T
|
rs2117254076
|
|
NM_006158.5(NEFL):c.1044+9C>A
|
rs757926597
|
|
NM_006158.5(NEFL):c.1045-14T>C
|
rs2486883371
|
|
NM_006158.5(NEFL):c.105C>T (p.Thr35=)
|
rs1169327764
|
|
NM_006158.5(NEFL):c.1080C>A (p.Thr360=)
|
rs760765563
|
|
NM_006158.5(NEFL):c.108A>G (p.Ala36=)
|
rs2486888400
|
|
NM_006158.5(NEFL):c.1125C>T (p.Leu375=)
|
rs2486883132
|
|
NM_006158.5(NEFL):c.1128C>A (p.Leu376=)
|
rs2486883123
|
|
NM_006158.5(NEFL):c.114A>T (p.Ser38=)
|
rs1803057053
|
|
NM_006158.5(NEFL):c.1167C>T (p.Tyr389=)
|
rs1586126978
|
|
NM_006158.5(NEFL):c.1169+12G>A
|
|
|
NM_006158.5(NEFL):c.1170-16G>A
|
|
|
NM_006158.5(NEFL):c.1185C>G (p.Gly395=)
|
rs751512030
|
|
NM_006158.5(NEFL):c.1185C>T (p.Gly395=)
|
rs751512030
|
|
NM_006158.5(NEFL):c.1200C>G (p.Leu400=)
|
|
|
NM_006158.5(NEFL):c.1236C>T (p.Tyr412=)
|
rs746267609
|
|
NM_006158.5(NEFL):c.1248C>T (p.Ser416=)
|
rs2486881884
|
|
NM_006158.5(NEFL):c.1251G>A (p.Gln417=)
|
rs2117251802
|
|
NM_006158.5(NEFL):c.1272C>T (p.Tyr424=)
|
|
|
NM_006158.5(NEFL):c.1284G>A (p.Gln428=)
|
rs931901985
|
|
NM_006158.5(NEFL):c.1287C>T (p.Thr429=)
|
rs1554497362
|
|
NM_006158.5(NEFL):c.1320G>T (p.Pro440=)
|
rs541109299
|
|
NM_006158.5(NEFL):c.1326C>T (p.Tyr442=)
|
rs1363711837
|
|
NM_006158.5(NEFL):c.1365G>A (p.Glu455=)
|
rs2486881492
|
|
NM_006158.5(NEFL):c.1386G>A (p.Lys462=)
|
rs2486881450
|
|
NM_006158.5(NEFL):c.1428C>G (p.Ala476=)
|
rs1455394179
|
|
NM_006158.5(NEFL):c.1458C>G (p.Ala486=)
|
rs61726486
|
|
NM_006158.5(NEFL):c.147C>G (p.Ser49=)
|
rs2117255801
|
|
NM_006158.5(NEFL):c.1482G>A (p.Glu494=)
|
rs1554497313
|
|
NM_006158.5(NEFL):c.1489+16A>T
|
rs1802996677
|
|
NM_006158.5(NEFL):c.1490-7G>A
|
|
|
NM_006158.5(NEFL):c.1608A>G (p.Glu536=)
|
rs2117250636
|
|
NM_006158.5(NEFL):c.1611A>G (p.Gln537=)
|
rs1802987929
|
|
NM_006158.5(NEFL):c.231C>T (p.Ala77=)
|
|
|
NM_006158.5(NEFL):c.264G>C (p.Thr88=)
|
|
|
NM_006158.5(NEFL):c.288C>T (p.Asp96=)
|
rs1333280766
|
|
NM_006158.5(NEFL):c.321C>G (p.Arg107=)
|
rs1198042093
|
|
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro)
|
rs1554497641
|
|
NM_006158.5(NEFL):c.339G>T (p.Gln113His)
|
|
|
NM_006158.5(NEFL):c.352C>T (p.Leu118=)
|
rs1254381816
|
|
NM_006158.5(NEFL):c.390C>T (p.Ser130=)
|
rs1430281104
|
|
NM_006158.5(NEFL):c.420G>A (p.Glu140=)
|
rs1586128713
|
|
NM_006158.5(NEFL):c.450G>A (p.Ala150=)
|
|
|
NM_006158.5(NEFL):c.486C>T (p.Gly162=)
|
rs1803048212
|
|
NM_006158.5(NEFL):c.48G>A (p.Arg16=)
|
rs2117256009
|
|
NM_006158.5(NEFL):c.48G>C (p.Arg16=)
|
rs2117256009
|
|
NM_006158.5(NEFL):c.531C>T (p.Arg177=)
|
rs2486887036
|
|
NM_006158.5(NEFL):c.549G>C (p.Leu183=)
|
|
|
NM_006158.5(NEFL):c.54C>T (p.Tyr18=)
|
rs1431523432
|
|
NM_006158.5(NEFL):c.594C>G (p.Gly198=)
|
rs1803044291
|
|
NM_006158.5(NEFL):c.609G>T (p.Ala203=)
|
rs1803043765
|
|
NM_006158.5(NEFL):c.615T>C (p.Ala205=)
|
rs2117254875
|
|
NM_006158.5(NEFL):c.621C>G (p.Ala207=)
|
rs763294014
|
|
NM_006158.5(NEFL):c.630G>A (p.Glu210=)
|
rs1803043048
|
|
NM_006158.5(NEFL):c.636C>T (p.Arg212=)
|
rs1185550016
|
|
NM_006158.5(NEFL):c.639C>T (p.Ile213=)
|
rs62636522
|
|
NM_006158.5(NEFL):c.648G>A (p.Leu216=)
|
rs35575466
|
|
NM_006158.5(NEFL):c.705G>A (p.Gln235=)
|
rs778575339
|
|
NM_006158.5(NEFL):c.729C>A (p.Ile243=)
|
rs1586128322
|
|
NM_006158.5(NEFL):c.756C>T (p.Pro252=)
|
|
|
NM_006158.5(NEFL):c.789G>A (p.Ala263=)
|
rs549124562
|
|
NM_006158.5(NEFL):c.78C>A (p.Ile26=)
|
rs778494323
|
|
NM_006158.5(NEFL):c.798G>A (p.Glu266=)
|
|
|
NM_006158.5(NEFL):c.821A>G (p.Gln274Arg)
|
rs756114856
|
|
NM_006158.5(NEFL):c.834A>G (p.Glu278=)
|
rs752136885
|
|
NM_006158.5(NEFL):c.858G>A (p.Val286=)
|
|
|
NM_006158.5(NEFL):c.864C>A (p.Thr288=)
|
rs1803036667
|
|
NM_006158.5(NEFL):c.873C>A (p.Ala291=)
|
rs1466451392
|
|
NM_006158.5(NEFL):c.876C>T (p.Ala292=)
|
rs2117254402
|
|
NM_006158.5(NEFL):c.903C>T (p.Ala301=)
|
rs2117254339
|
|
NM_006158.5(NEFL):c.906G>A (p.Lys302=)
|
rs2117254336
|
|
NM_006158.5(NEFL):c.918C>T (p.Ser306=)
|
rs1065084
|
|
NM_006158.5(NEFL):c.957C>A (p.Ile319=)
|
rs758135536
|
|
NM_006158.5(NEFL):c.993G>A (p.Lys331=)
|
rs2486885813
|
|
NM_014365.3(HSPB8):c.126C>T (p.Asp42=)
|
|
|
NM_014365.3(HSPB8):c.147C>G (p.Pro49=)
|
rs371236491
|
|
NM_014365.3(HSPB8):c.174C>A (p.Ser58=)
|
rs56046128
|
|
NM_014365.3(HSPB8):c.201C>T (p.Gly67=)
|
rs1565927038
|
|
NM_014365.3(HSPB8):c.210C>A (p.Pro70=)
|
rs1211866770
|
|
NM_014365.3(HSPB8):c.210C>T (p.Pro70=)
|
rs1211866770
|
|
NM_014365.3(HSPB8):c.21C>A (p.Pro7=)
|
rs2136079832
|
|
NM_014365.3(HSPB8):c.228C>A (p.Thr76=)
|
rs764660116
|
|
NM_014365.3(HSPB8):c.243G>A (p.Val81=)
|
rs753025813
|
|
NM_014365.3(HSPB8):c.266C>G (p.Pro89Arg)
|
rs35909818
|
|
NM_014365.3(HSPB8):c.328T>C (p.Leu110=)
|
|
|
NM_014365.3(HSPB8):c.351A>T (p.Gly117=)
|
rs2500034940
|
|
NM_014365.3(HSPB8):c.360G>A (p.Glu120=)
|
|
|
NM_014365.3(HSPB8):c.367+10G>T
|
|
|
NM_014365.3(HSPB8):c.367+12G>C
|
|
|
NM_014365.3(HSPB8):c.372A>G (p.Lys124=)
|
rs1954680412
|
|
NM_014365.3(HSPB8):c.39A>G (p.Pro13=)
|
rs1036726530
|
|
NM_014365.3(HSPB8):c.431+14A>C
|
rs375483506
|
|
NM_014365.3(HSPB8):c.431+14A>T
|
rs375483506
|
|
NM_014365.3(HSPB8):c.431+8A>G
|
rs2500043559
|
|
NM_014365.3(HSPB8):c.431+9C>T
|
|
|
NM_014365.3(HSPB8):c.432-10T>A
|
rs368810689
|
|
NM_014365.3(HSPB8):c.432-10T>C
|
rs368810689
|
|
NM_014365.3(HSPB8):c.432-8T>C
|
rs1954726151
|
|
NM_014365.3(HSPB8):c.45C>T (p.Arg15=)
|
rs1565926943
|
|
NM_014365.3(HSPB8):c.492G>A (p.Leu164=)
|
|
|
NM_014365.3(HSPB8):c.501A>G (p.Glu167=)
|
rs2500054670
|
|
NM_014365.3(HSPB8):c.51C>T (p.Arg17=)
|
rs2500034410
|
|
NM_014365.3(HSPB8):c.549C>T (p.Asn183=)
|
rs2136086376
|
|
NM_014874.4(MFN2):c.1002G>A (p.Arg334=)
|
rs1410500132
|
|
NM_014874.4(MFN2):c.1017G>A (p.Gln339=)
|
rs2100840368
|
|
NM_014874.4(MFN2):c.1029G>A (p.Arg343=)
|
|
|
NM_014874.4(MFN2):c.1038+16C>G
|
rs2100840444
|
|
NM_014874.4(MFN2):c.1038+7C>T
|
rs1639188986
|
|
NM_014874.4(MFN2):c.1039-11G>C
|
rs777588423
|
|
NM_014874.4(MFN2):c.1039-12TG[2]
|
rs780237550
|
|
NM_014874.4(MFN2):c.1039-15C>T
|
rs1462549695
|
|
NM_014874.4(MFN2):c.1039-16C>T
|
rs369651423
|
|
NM_014874.4(MFN2):c.1039-19G>T
|
rs74052923
|
|
NM_014874.4(MFN2):c.1039-9G>T
|
rs1569853844
|
|
NM_014874.4(MFN2):c.1047C>T (p.Ile349=)
|
rs2100840933
|
|
NM_014874.4(MFN2):c.1086G>C (p.Thr362=)
|
rs749652300
|
|
NM_014874.4(MFN2):c.1090C>A (p.Arg364=)
|
rs119103265
|
|
NM_014874.4(MFN2):c.1113G>C (p.Ala371=)
|
rs766570486
|
|
NM_014874.4(MFN2):c.1113G>T (p.Ala371=)
|
rs766570486
|
|
NM_014874.4(MFN2):c.1137G>A (p.Leu379=)
|
rs2523060911
|
|
NM_014874.4(MFN2):c.1140C>T (p.His380=)
|
rs1419651884
|
|
NM_014874.4(MFN2):c.1158G>A (p.Gln386=)
|
|
|
NM_014874.4(MFN2):c.1160+10C>T
|
rs1297411793
|
|
NM_014874.4(MFN2):c.1160+16T>G
|
rs2523061368
|
|
NM_014874.4(MFN2):c.1161-16A>T
|
rs2523072063
|
|
NM_014874.4(MFN2):c.1161-17C>T
|
rs764109323
|
|
NM_014874.4(MFN2):c.1161-45_1161-14del
|
rs2100846924
|
|
NM_014874.4(MFN2):c.1182T>G (p.Arg394=)
|
rs1248315714
|
|
NM_014874.4(MFN2):c.1194A>G (p.Gln398=)
|
rs555006809
|
|
NM_014874.4(MFN2):c.1215C>T (p.Asp405=)
|
rs2523072922
|
|
NM_014874.4(MFN2):c.1236T>C (p.Ala412=)
|
rs2100847372
|
|
NM_014874.4(MFN2):c.1251G>T (p.Leu417=)
|
rs1291955409
|
|
NM_014874.4(MFN2):c.1287+10GAG[2]
|
rs767607294
|
|
NM_014874.4(MFN2):c.1287+19G>A
|
rs994622836
|
|
NM_014874.4(MFN2):c.1288-15T>C
|
|
|
NM_014874.4(MFN2):c.1288-4G>A
|
rs1167841408
|
|
NM_014874.4(MFN2):c.1288-5T>C
|
rs763320321
|
|
NM_014874.4(MFN2):c.1293G>A (p.Ser431=)
|
rs751915674
|
|
NM_014874.4(MFN2):c.1296T>C (p.Thr432=)
|
rs2100848678
|
|
NM_014874.4(MFN2):c.1320C>G (p.Arg440=)
|
|
|
NM_014874.4(MFN2):c.1332G>A (p.Leu444=)
|
rs142848213
|
|
NM_014874.4(MFN2):c.1332G>T (p.Leu444=)
|
rs142848213
|
|
NM_014874.4(MFN2):c.1341T>C (p.Asp447=)
|
rs778905813
|
|
NM_014874.4(MFN2):c.1344C>T (p.Tyr448=)
|
rs2100848957
|
|
NM_014874.4(MFN2):c.1356C>T (p.Phe452=)
|
rs1639320282
|
|
NM_014874.4(MFN2):c.1380G>A (p.Lys460=)
|
rs776267944
|
|
NM_014874.4(MFN2):c.1392+12A>G
|
rs2523077881
|
|
NM_014874.4(MFN2):c.1392+7C>A
|
rs759251276
|
|
NM_014874.4(MFN2):c.1393-12_1393-11insA
|
rs2523079550
|
|
NM_014874.4(MFN2):c.1393-4G>T
|
rs1639331021
|
|
NM_014874.4(MFN2):c.1393-7G>A
|
rs906719272
|
|
NM_014874.4(MFN2):c.1455C>T (p.Ala485=)
|
rs766967467
|
|
NM_014874.4(MFN2):c.1464C>T (p.Asn488=)
|
rs1459334754
|
|
NM_014874.4(MFN2):c.1468C>T (p.Leu490=)
|
rs1569862709
|
|
NM_014874.4(MFN2):c.1476C>T (p.Thr492=)
|
rs143428548
|
|
NM_014874.4(MFN2):c.1488C>T (p.Asp496=)
|
rs746806455
|
|
NM_014874.4(MFN2):c.1495+15_1495+16del
|
rs2100850386
|
|
NM_014874.4(MFN2):c.1495+8C>A
|
rs775224412
|
|
NM_014874.4(MFN2):c.1496-8C>G
|
rs1639377731
|
|
NM_014874.4(MFN2):c.1512C>T (p.Leu504=)
|
|
|
NM_014874.4(MFN2):c.1551C>T (p.Val517=)
|
rs2523087307
|
|
NM_014874.4(MFN2):c.1582C>T (p.Leu528=)
|
rs2523087646
|
|
NM_014874.4(MFN2):c.1686C>T (p.Ser562=)
|
rs1210577569
|
|
NM_014874.4(MFN2):c.1689T>C (p.Arg563=)
|
rs2523088767
|
|
NM_014874.4(MFN2):c.168C>T (p.Phe56=)
|
rs769831339
|
|
NM_014874.4(MFN2):c.1716+10G>C
|
|
|
NM_014874.4(MFN2):c.1716+16C>A
|
rs2100853696
|
|
NM_014874.4(MFN2):c.1716+16C>T
|
rs2100853696
|
|
NM_014874.4(MFN2):c.1716+19C>A
|
rs2523089345
|
|
NM_014874.4(MFN2):c.1717-19C>G
|
|
|
NM_014874.4(MFN2):c.1717-8C>G
|
rs2523093872
|
|
NM_014874.4(MFN2):c.1717-9_1717-6del
|
rs746359726
|
|
NM_014874.4(MFN2):c.171T>C (p.Leu57=)
|
rs1443899568
|
|
NM_014874.4(MFN2):c.1731C>T (p.Ile577=)
|
|
|
NM_014874.4(MFN2):c.175+13C>T
|
rs1457407317
|
|
NM_014874.4(MFN2):c.176-15A>G
|
rs2100812418
|
|
NM_014874.4(MFN2):c.176-16C>T
|
rs1236200141
|
|
NM_014874.4(MFN2):c.176-19T>G
|
rs1638733188
|
|
NM_014874.4(MFN2):c.176-4C>G
|
rs546254672
|
|
NM_014874.4(MFN2):c.176-8A>C
|
rs1189123888
|
|
NM_014874.4(MFN2):c.1782C>A (p.Leu594=)
|
rs950932066
|
|
NM_014874.4(MFN2):c.180G>T (p.Thr60=)
|
|
|
NM_014874.4(MFN2):c.1830G>A (p.Leu610=)
|
rs1639431856
|
|
NM_014874.4(MFN2):c.1833A>T (p.Thr611=)
|
rs2100856355
|
|
NM_014874.4(MFN2):c.183C>T (p.Tyr61=)
|
rs1638734576
|
|
NM_014874.4(MFN2):c.1872+17G>T
|
|
|
NM_014874.4(MFN2):c.1873-13A>C
|
rs780054024
|
|
NM_014874.4(MFN2):c.1884A>G (p.Ala628=)
|
rs2100857953
|
|
NM_014874.4(MFN2):c.1890C>G (p.Gly630=)
|
|
|
NM_014874.4(MFN2):c.189T>C (p.Asn63=)
|
rs2100812512
|
|
NM_014874.4(MFN2):c.1920C>G (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.1920C>T (p.Leu640=)
|
rs141468012
|
|
NM_014874.4(MFN2):c.1932C>T (p.Leu644=)
|
rs780395516
|
|
NM_014874.4(MFN2):c.1938C>T (p.Val646=)
|
rs1040702840
|
|
NM_014874.4(MFN2):c.1980C>T (p.Ala660=)
|
rs2100858469
|
|
NM_014874.4(MFN2):c.2028C>T (p.Val676=)
|
rs780836559
|
|
NM_014874.4(MFN2):c.2031C>T (p.Ile677=)
|
rs1006353708
|
|
NM_014874.4(MFN2):c.2052C>T (p.Cys684=)
|
|
|
NM_014874.4(MFN2):c.2069+13G>C
|
rs766629075
|
|
NM_014874.4(MFN2):c.2069+15C>G
|
rs375924621
|
|
NM_014874.4(MFN2):c.2069+20C>A
|
rs1047999570
|
|
NM_014874.4(MFN2):c.2070-11C>T
|
rs759614417
|
|
NM_014874.4(MFN2):c.2070-14T>C
|
rs2523121753
|
|
NM_014874.4(MFN2):c.2070-16T>C
|
rs1639597286
|
|
NM_014874.4(MFN2):c.2070-16TC[5]
|
rs2523121725
|
|
NM_014874.4(MFN2):c.2070-4C>T
|
|
|
NM_014874.4(MFN2):c.2070-6C>A
|
rs752898934
|
|
NM_014874.4(MFN2):c.2070-7_2070-5del
|
rs2523121801
|
|
NM_014874.4(MFN2):c.2070-8C>G
|
rs1321940926
|
|
NM_014874.4(MFN2):c.2070-8C>T
|
rs1321940926
|
|
NM_014874.4(MFN2):c.207T>C (p.Val69=)
|
rs759973329
|
|
NM_014874.4(MFN2):c.2118C>G (p.Thr706=)
|
rs1281194317
|
|
NM_014874.4(MFN2):c.2160A>G (p.Lys720=)
|
rs769855660
|
|
NM_014874.4(MFN2):c.2202C>G (p.Leu734=)
|
rs1304254268
|
|
NM_014874.4(MFN2):c.2205-15A>T
|
rs2100874408
|
|
NM_014874.4(MFN2):c.2205-15dup
|
|
|
NM_014874.4(MFN2):c.2205-4G>A
|
rs2523134508
|
|
NM_014874.4(MFN2):c.2214C>T (p.Ala738=)
|
rs781669282
|
|
NM_014874.4(MFN2):c.2232G>A (p.Glu744=)
|
rs756693072
|
|
NM_014874.4(MFN2):c.2269A>C (p.Arg757=)
|
rs1639700136
|
|
NM_014874.4(MFN2):c.246A>C (p.Leu82=)
|
|
|
NM_014874.4(MFN2):c.249C>G (p.Ser83=)
|
|
|
NM_014874.4(MFN2):c.264C>T (p.Ile88=)
|
rs1553141680
|
|
NM_014874.4(MFN2):c.273G>A (p.Val91=)
|
rs2522985541
|
|
NM_014874.4(MFN2):c.273G>T (p.Val91=)
|
rs2522985541
|
|
NM_014874.4(MFN2):c.279T>C (p.Ala93=)
|
rs2522985592
|
|
NM_014874.4(MFN2):c.283A>C (p.Arg95=)
|
rs1060501920
|
|
NM_014874.4(MFN2):c.288C>T (p.His96=)
|
rs779756767
|
|
NM_014874.4(MFN2):c.311+14_311+15delinsTT
|
rs2100813069
|
|
NM_014874.4(MFN2):c.311+7C>T
|
rs778692193
|
|
NM_014874.4(MFN2):c.312-10T>C
|
rs2523010123
|
|
NM_014874.4(MFN2):c.327G>A (p.Lys109=)
|
rs1557521712
|
|
NM_014874.4(MFN2):c.351C>T (p.Leu117=)
|
rs1468573342
|
|
NM_014874.4(MFN2):c.357C>T (p.Asp119=)
|
rs2523010688
|
|
NM_014874.4(MFN2):c.366G>A (p.Leu122=)
|
rs2100822411
|
|
NM_014874.4(MFN2):c.369C>G (p.Pro123=)
|
rs1393819397
|
|
NM_014874.4(MFN2):c.423C>G (p.Gly141=)
|
rs2523011360
|
|
NM_014874.4(MFN2):c.459A>G (p.Glu153=)
|
|
|
NM_014874.4(MFN2):c.462G>A (p.Lys154=)
|
rs1255624199
|
|
NM_014874.4(MFN2):c.475-12C>T
|
rs2523020540
|
|
NM_014874.4(MFN2):c.475-17C>G
|
|
|
NM_014874.4(MFN2):c.475-4T>A
|
rs2523020705
|
|
NM_014874.4(MFN2):c.475-5A>G
|
rs375925656
|
|
NM_014874.4(MFN2):c.504C>T (p.His168=)
|
rs2100826193
|
|
NM_014874.4(MFN2):c.510C>T (p.Asp170=)
|
rs2100826208
|
|
NM_014874.4(MFN2):c.552C>T (p.Pro184=)
|
rs2100826374
|
|
NM_014874.4(MFN2):c.555C>T (p.Asn185=)
|
rs755790687
|
|
NM_014874.4(MFN2):c.597C>T (p.Asp199=)
|
|
|
NM_014874.4(MFN2):c.599+9G>A
|
rs377142427
|
|
NM_014874.4(MFN2):c.600-11G>C
|
rs1215662000
|
|
NM_014874.4(MFN2):c.600-13_600-12del
|
rs1250749521
|
|
NM_014874.4(MFN2):c.600-8_600-7dup
|
rs761842762
|
|
NM_014874.4(MFN2):c.618C>T (p.Thr206=)
|
rs2523034736
|
|
NM_014874.4(MFN2):c.666G>A (p.Val222=)
|
rs911933291
|
|
NM_014874.4(MFN2):c.66T>C (p.Ala22=)
|
rs746838667
|
|
NM_014874.4(MFN2):c.675G>A (p.Leu225=)
|
|
|
NM_014874.4(MFN2):c.708+9del
|
|
|
NM_014874.4(MFN2):c.744C>G (p.Leu248=)
|
rs61733205
|
|
NM_014874.4(MFN2):c.750G>A (p.Arg250=)
|
rs1639056984
|
|
NM_014874.4(MFN2):c.768G>A (p.Leu256=)
|
rs2100832631
|
|
NM_014874.4(MFN2):c.816+16T>C
|
rs775137911
|
|
NM_014874.4(MFN2):c.816+18G>A
|
rs2100832894
|
|
NM_014874.4(MFN2):c.816+9T>G
|
rs1320498123
|
|
NM_014874.4(MFN2):c.817-18C>T
|
rs978782506
|
|
NM_014874.4(MFN2):c.817-19A>C
|
|
|
NM_014874.4(MFN2):c.817-19A>G
|
rs540498876
|
|
NM_014874.4(MFN2):c.858G>A (p.Val286=)
|
|
|
NM_014874.4(MFN2):c.861T>C (p.Asp287=)
|
rs2523053944
|
|
NM_014874.4(MFN2):c.864G>A (p.Glu288=)
|
rs1569851796
|
|
NM_014874.4(MFN2):c.879T>C (p.Asp293=)
|
rs2523054130
|
|
NM_014874.4(MFN2):c.891C>G (p.Ala297=)
|
rs11554508
|
|
NM_014874.4(MFN2):c.927G>C (p.Val309=)
|
rs779947209
|
|
NM_014874.4(MFN2):c.970+8T>C
|
rs2100839593
|
|
NM_014874.4(MFN2):c.970+9G>A
|
rs2100839595
|
|
NM_014874.4(MFN2):c.971-8C>T
|
rs780000309
|
|
NM_014874.4(MFN2):c.981C>T (p.Leu327=)
|
rs747677218
|
|
NM_014874.4(MFN2):c.987A>G (p.Glu329=)
|
rs2523057560
|
|
NM_014874.4(MFN2):c.990C>T (p.Gly330=)
|
rs2523057573
|
|
NM_015271.5(TRIM2):c.1008G>A (p.Lys336=)
|
rs2150143876
|
|
NM_015271.5(TRIM2):c.1026C>T (p.Leu342=)
|
|
|
NM_015271.5(TRIM2):c.1050C>T (p.Ala350=)
|
rs1433209136
|
|
NM_015271.5(TRIM2):c.1065A>G (p.Thr355=)
|
rs1376886785
|
|
NM_015271.5(TRIM2):c.1071C>T (p.Ala357=)
|
rs1762606228
|
|
NM_015271.5(TRIM2):c.1095C>A (p.Thr365=)
|
rs887445633
|
|
NM_015271.5(TRIM2):c.1125C>T (p.Ile375=)
|
rs2546529034
|
|
NM_015271.5(TRIM2):c.1146T>C (p.Gly382=)
|
rs2546529169
|
|
NM_015271.5(TRIM2):c.114T>G (p.Pro38=)
|
rs2150035241
|
|
NM_015271.5(TRIM2):c.1194C>G (p.Thr398=)
|
rs1762633408
|
|
NM_015271.5(TRIM2):c.1212A>T (p.Ala404=)
|
rs1203709630
|
|
NM_015271.5(TRIM2):c.1218G>A (p.Gly406=)
|
rs1192077857
|
|
NM_015271.5(TRIM2):c.1260C>T (p.Tyr420=)
|
rs761059832
|
|
NM_015271.5(TRIM2):c.1275A>G (p.Glu425=)
|
rs1255205986
|
|
NM_015271.5(TRIM2):c.1284T>C (p.Phe428=)
|
rs2150145207
|
|
NM_015271.5(TRIM2):c.1326C>T (p.Ser442=)
|
rs1762658231
|
|
NM_015271.5(TRIM2):c.1341A>G (p.Lys447=)
|
|
|
NM_015271.5(TRIM2):c.1347C>T (p.Ile449=)
|
rs2546530692
|
|
NM_015271.5(TRIM2):c.1353C>T (p.Ser451=)
|
|
|
NM_015271.5(TRIM2):c.1368C>T (p.Pro456=)
|
rs1295920622
|
|
NM_015271.5(TRIM2):c.1374A>G (p.Thr458=)
|
rs144496251
|
|
NM_015271.5(TRIM2):c.1380C>T (p.Gly460=)
|
rs773901536
|
|
NM_015271.5(TRIM2):c.1443C>A (p.Pro481=)
|
rs948266365
|
|
NM_015271.5(TRIM2):c.144G>C (p.Leu48=)
|
rs2546382394
|
|
NM_015271.5(TRIM2):c.1485C>T (p.Ile495=)
|
rs2150146138
|
|
NM_015271.5(TRIM2):c.1510+13C>T
|
|
|
NM_015271.5(TRIM2):c.1510+19T>C
|
|
|
NM_015271.5(TRIM2):c.1527T>C (p.Asn509=)
|
rs369980947
|
|
NM_015271.5(TRIM2):c.1554G>A (p.Gly518=)
|
rs759549956
|
|
NM_015271.5(TRIM2):c.1560T>G (p.Ala520=)
|
rs2546630878
|
|
NM_015271.5(TRIM2):c.1614+9C>T
|
rs2546631175
|
|
NM_015271.5(TRIM2):c.1615-15T>A
|
|
|
NM_015271.5(TRIM2):c.1615-5T>C
|
rs1767475597
|
|
NM_015271.5(TRIM2):c.1626T>C (p.Asn542=)
|
rs1308153997
|
|
NM_015271.5(TRIM2):c.1629T>C (p.Asp543=)
|
rs184025938
|
|
NM_015271.5(TRIM2):c.1671G>A (p.Pro557=)
|
rs150231451
|
|
NM_015271.5(TRIM2):c.1731C>T (p.Ala577=)
|
rs762952620
|
|
NM_015271.5(TRIM2):c.1746A>G (p.Lys582=)
|
rs759415596
|
|
NM_015271.5(TRIM2):c.1767C>G (p.Ser589=)
|
rs767007696
|
|
NM_015271.5(TRIM2):c.1776A>G (p.Lys592=)
|
rs2546633520
|
|
NM_015271.5(TRIM2):c.177T>C (p.Asn59=)
|
rs2546382569
|
|
NM_015271.5(TRIM2):c.1782+14C>T
|
rs2546633691
|
|
NM_015271.5(TRIM2):c.1782+7T>C
|
rs2149528432
|
|
NM_015271.5(TRIM2):c.1797A>T (p.Ser599=)
|
rs747232462
|
|
NM_015271.5(TRIM2):c.1863C>T (p.Asn621=)
|
rs2546663021
|
|
NM_015271.5(TRIM2):c.1869G>C (p.Ala623=)
|
rs138879605
|
|
NM_015271.5(TRIM2):c.1890G>A (p.Gln630=)
|
|
|
NM_015271.5(TRIM2):c.1951+10A>G
|
rs1769302814
|
|
NM_015271.5(TRIM2):c.1951+8C>T
|
rs1219822069
|
|
NM_015271.5(TRIM2):c.1952-12T>C
|
rs751891772
|
|
NM_015271.5(TRIM2):c.1952-13A>G
|
rs1266356466
|
|
NM_015271.5(TRIM2):c.1952-4G>A
|
rs1254352850
|
|
NM_015271.5(TRIM2):c.2023-9T>C
|
|
|
NM_015271.5(TRIM2):c.2050T>C (p.Leu684=)
|
rs779994895
|
|
NM_015271.5(TRIM2):c.2121T>C (p.Asn707=)
|
rs1770759058
|
|
NM_015271.5(TRIM2):c.2133T>C (p.Ile711=)
|
rs748791176
|
|
NM_015271.5(TRIM2):c.2142C>T (p.Asp714=)
|
rs2149583773
|
|
NM_015271.5(TRIM2):c.215+10C>T
|
rs1579195939
|
|
NM_015271.5(TRIM2):c.216-13G>T
|
rs749531696
|
|
NM_015271.5(TRIM2):c.216-18C>T
|
|
|
NM_015271.5(TRIM2):c.2163+11G>A
|
|
|
NM_015271.5(TRIM2):c.2163+9A>G
|
rs972988634
|
|
NM_015271.5(TRIM2):c.2164-12_2164-9del
|
rs2149607661
|
|
NM_015271.5(TRIM2):c.2164-14C>G
|
rs1772253937
|
|
NM_015271.5(TRIM2):c.2205A>G (p.Thr735=)
|
rs2149607845
|
|
NM_015271.5(TRIM2):c.2226C>G (p.Gly742=)
|
rs1195853126
|
|
NM_015271.5(TRIM2):c.2256T>G (p.Gly752=)
|
rs2149608023
|
|
NM_015271.5(TRIM2):c.2313G>A (p.Gln771=)
|
rs2149608184
|
|
NM_015271.5(TRIM2):c.243C>T (p.His81=)
|
|
|
NM_015271.5(TRIM2):c.306C>G (p.Ala102=)
|
rs772795087
|
|
NM_015271.5(TRIM2):c.330C>T (p.Ile110=)
|
rs1291797168
|
|
NM_015271.5(TRIM2):c.360T>C (p.Thr120=)
|
rs1274752496
|
|
NM_015271.5(TRIM2):c.393G>A (p.Leu131=)
|
rs960284176
|
|
NM_015271.5(TRIM2):c.414T>G (p.Ala138=)
|
|
|
NM_015271.5(TRIM2):c.429C>T (p.Leu143=)
|
rs2150063164
|
|
NM_015271.5(TRIM2):c.453+10T>A
|
|
|
NM_015271.5(TRIM2):c.453+13G>A
|
rs1472603089
|
|
NM_015271.5(TRIM2):c.453+8G>T
|
rs764734635
|
|
NM_015271.5(TRIM2):c.454-11G>A
|
|
|
NM_015271.5(TRIM2):c.454-13G>C
|
rs754383694
|
|
NM_015271.5(TRIM2):c.454-18T>C
|
rs2546508470
|
|
NM_015271.5(TRIM2):c.471C>T (p.Cys157=)
|
rs1249856185
|
|
NM_015271.5(TRIM2):c.516G>A (p.Glu172=)
|
rs1762131162
|
|
NM_015271.5(TRIM2):c.588G>T (p.Leu196=)
|
rs1449311337
|
|
NM_015271.5(TRIM2):c.605+14C>T
|
|
|
NM_015271.5(TRIM2):c.605+20del
|
rs1762153479
|
|
NM_015271.5(TRIM2):c.605+8A>C
|
rs1762148319
|
|
NM_015271.5(TRIM2):c.606-9G>C
|
rs781041361
|
|
NM_015271.5(TRIM2):c.624T>G (p.Ser208=)
|
rs2546518055
|
|
NM_015271.5(TRIM2):c.648C>T (p.Ile216=)
|
rs1352327505
|
|
NM_015271.5(TRIM2):c.744G>A (p.Val248=)
|
rs566381785
|
|
NM_015271.5(TRIM2):c.774C>A (p.Gly258=)
|
rs2546519418
|
|
NM_015271.5(TRIM2):c.786+10G>C
|
rs1268924136
|
|
NM_015271.5(TRIM2):c.786+15A>G
|
|
|
NM_015271.5(TRIM2):c.822G>T (p.Gly274=)
|
rs747440517
|
|
NM_015271.5(TRIM2):c.849C>T (p.Asn283=)
|
rs1194057982
|
|
NM_015271.5(TRIM2):c.879G>T (p.Thr293=)
|
rs115191942
|
|
NM_015271.5(TRIM2):c.885C>G (p.Thr295=)
|
rs763610177
|
|
NM_015271.5(TRIM2):c.936C>T (p.Ala312=)
|
rs1217667637
|
|
NM_021625.5(TRPV4):c.1005C>G (p.Thr335=)
|
rs1003372246
|
|
NM_021625.5(TRPV4):c.1005C>T (p.Thr335=)
|
rs1003372246
|
|
NM_021625.5(TRPV4):c.1074C>G (p.Pro358=)
|
rs140040335
|
|
NM_021625.5(TRPV4):c.1083C>T (p.Asn361=)
|
rs2136518359
|
|
NM_021625.5(TRPV4):c.1084C>T (p.Leu362=)
|
rs1238768782
|
|
NM_021625.5(TRPV4):c.1110C>A (p.Gly370=)
|
rs2136517738
|
|
NM_021625.5(TRPV4):c.1116G>T (p.Ser372=)
|
|
|
NM_021625.5(TRPV4):c.1140G>A (p.Thr380=)
|
rs767693473
|
|
NM_021625.5(TRPV4):c.1152+19G>A
|
rs1428509382
|
|
NM_021625.5(TRPV4):c.1153-19C>G
|
|
|
NM_021625.5(TRPV4):c.1153-6G>A
|
rs1890423456
|
|
NM_021625.5(TRPV4):c.1167C>T (p.Ile389=)
|
rs2136503803
|
|
NM_021625.5(TRPV4):c.1170C>T (p.Ile390=)
|
rs2136503789
|
|
NM_021625.5(TRPV4):c.1191G>A (p.Glu397=)
|
rs1282510822
|
|
NM_021625.5(TRPV4):c.1203C>T (p.His401=)
|
|
|
NM_021625.5(TRPV4):c.1206G>A (p.Leu402=)
|
rs1328179779
|
|
NM_021625.5(TRPV4):c.1206G>T (p.Leu402=)
|
rs1328179779
|
|
NM_021625.5(TRPV4):c.1218C>T (p.Phe406=)
|
rs750629825
|
|
NM_021625.5(TRPV4):c.1251G>A (p.Ser417=)
|
rs765427637
|
|
NM_021625.5(TRPV4):c.1263C>G (p.Leu421=)
|
rs1890416366
|
|
NM_021625.5(TRPV4):c.1278G>C (p.Thr426=)
|
|
|
NM_021625.5(TRPV4):c.1296C>T (p.Ser432=)
|
rs1028271373
|
|
NM_021625.5(TRPV4):c.1333-14C>A
|
rs749832753
|
|
NM_021625.5(TRPV4):c.1333-17C>A
|
rs766176063
|
|
NM_021625.5(TRPV4):c.1333-17C>T
|
rs766176063
|
|
NM_021625.5(TRPV4):c.1333-19A>C
|
rs1890265458
|
|
NM_021625.5(TRPV4):c.1333-20dup
|
rs780904783
|
|
NM_021625.5(TRPV4):c.1333-5C>T
|
rs761542549
|
|
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu)
|
rs143502097
|
|
NM_021625.5(TRPV4):c.1344G>A (p.Glu448=)
|
|
|
NM_021625.5(TRPV4):c.1359G>A (p.Glu453=)
|
rs1890262147
|
|
NM_021625.5(TRPV4):c.1434C>T (p.Tyr478=)
|
rs749421876
|
|
NM_021625.5(TRPV4):c.1464C>A (p.Thr488=)
|
|
|
NM_021625.5(TRPV4):c.1479G>T (p.Pro493=)
|
rs1337838267
|
|
NM_021625.5(TRPV4):c.147C>T (p.Pro49=)
|
|
|
NM_021625.5(TRPV4):c.1491+10C>G
|
rs201815805
|
|
NM_021625.5(TRPV4):c.1492-20dup
|
rs779127328
|
|
NM_021625.5(TRPV4):c.1492-4C>T
|
|
|
NM_021625.5(TRPV4):c.1492-9G>A
|
rs1890220211
|
|
NM_021625.5(TRPV4):c.1497G>A (p.Pro499=)
|
rs751852169
|
|
NM_021625.5(TRPV4):c.1497G>T (p.Pro499=)
|
rs751852169
|
|
NM_021625.5(TRPV4):c.1503T>C (p.Pro501=)
|
rs2136480293
|
|
NM_021625.5(TRPV4):c.1515G>C (p.Thr505=)
|
rs1056692999
|
|
NM_021625.5(TRPV4):c.1563G>T (p.Gly521=)
|
rs750906932
|
|
NM_021625.5(TRPV4):c.1569G>A (p.Leu523=)
|
|
|
NM_021625.5(TRPV4):c.1584+12G>A
|
rs375908611
|
|
NM_021625.5(TRPV4):c.1584+14C>T
|
rs1164262836
|
|
NM_021625.5(TRPV4):c.1584+7G>T
|
rs1182121596
|
|
NM_021625.5(TRPV4):c.1585-12C>T
|
rs2548728884
|
|
NM_021625.5(TRPV4):c.1594T>C (p.Leu532=)
|
|
|
NM_021625.5(TRPV4):c.1611C>T (p.Cys537=)
|
rs1407714132
|
|
NM_021625.5(TRPV4):c.1658+15_1658+21del
|
rs2548728605
|
|
NM_021625.5(TRPV4):c.1658+16T>C
|
rs1345023038
|
|
NM_021625.5(TRPV4):c.1658+20C>G
|
rs2548728610
|
|
NM_021625.5(TRPV4):c.1658+7A>G
|
rs1890172061
|
|
NM_021625.5(TRPV4):c.1659-7A>G
|
rs2548727177
|
|
NM_021625.5(TRPV4):c.1689A>G (p.Ser563=)
|
rs2136469436
|
|
NM_021625.5(TRPV4):c.1695C>T (p.Ala565=)
|
|
|
NM_021625.5(TRPV4):c.1698C>G (p.Leu566=)
|
rs753509572
|
|
NM_021625.5(TRPV4):c.1713C>T (p.Ile571=)
|
rs185933892
|
|
NM_021625.5(TRPV4):c.1731G>T (p.Val577=)
|
rs1592827611
|
|
NM_021625.5(TRPV4):c.1746G>C (p.Leu582=)
|
rs1165773272
|
|
NM_021625.5(TRPV4):c.174T>C (p.Ala58=)
|
rs774161754
|
|
NM_021625.5(TRPV4):c.1824+17C>A
|
rs1890119108
|
|
NM_021625.5(TRPV4):c.1824+17C>T
|
|
|
NM_021625.5(TRPV4):c.1825-14G>T
|
rs114829048
|
|
NM_021625.5(TRPV4):c.1825-15C>G
|
rs200602134
|
|
NM_021625.5(TRPV4):c.1825-8G>A
|
rs1565864062
|
|
NM_021625.5(TRPV4):c.1857C>A (p.Leu619=)
|
rs781048658
|
|
NM_021625.5(TRPV4):c.1869C>T (p.Leu623=)
|
rs1890102256
|
|
NM_021625.5(TRPV4):c.1878C>T (p.Ile626=)
|
rs758026363
|
|
NM_021625.5(TRPV4):c.1891+13T>G
|
|
|
NM_021625.5(TRPV4):c.1892-10C>T
|
|
|
NM_021625.5(TRPV4):c.1892-12A>G
|
|
|
NM_021625.5(TRPV4):c.1892-13T>A
|
rs1555205476
|
|
NM_021625.5(TRPV4):c.1893C>T (p.Ala631=)
|
|
|
NM_021625.5(TRPV4):c.1932G>A (p.Val644=)
|
rs2548718736
|
|
NM_021625.5(TRPV4):c.1935C>T (p.Cys645=)
|
rs2548718694
|
|
NM_021625.5(TRPV4):c.1968T>G (p.Thr656=)
|
|
|
NM_021625.5(TRPV4):c.2007C>T (p.Phe669=)
|
|
|
NM_021625.5(TRPV4):c.2073C>T (p.Tyr691=)
|
rs2136441439
|
|
NM_021625.5(TRPV4):c.2091C>T (p.Ile697=)
|
rs2136441311
|
|
NM_021625.5(TRPV4):c.2130C>A (p.Leu710=)
|
rs755736749
|
|
NM_021625.5(TRPV4):c.2151C>A (p.Leu717=)
|
rs1555205372
|
|
NM_021625.5(TRPV4):c.2169C>T (p.Gly723=)
|
rs1565860744
|
|
NM_021625.5(TRPV4):c.2184G>A (p.Glu728=)
|
rs2136440447
|
|
NM_021625.5(TRPV4):c.21C>T (p.Gly7=)
|
|
|
NM_021625.5(TRPV4):c.2208+14G>T
|
rs770836806
|
|
NM_021625.5(TRPV4):c.2208+7C>G
|
rs1218317076
|
|
NM_021625.5(TRPV4):c.2209-15C>T
|
rs2548714376
|
|
NM_021625.5(TRPV4):c.2209-8C>G
|
rs1003284993
|
|
NM_021625.5(TRPV4):c.2209-8C>T
|
rs1003284993
|
|
NM_021625.5(TRPV4):c.2217C>G (p.Thr739=)
|
rs2136431717
|
|
NM_021625.5(TRPV4):c.2301C>T (p.Ser767=)
|
rs1366488225
|
|
NM_021625.5(TRPV4):c.2304G>A (p.Ser768=)
|
rs138986228
|
|
NM_021625.5(TRPV4):c.2313T>A (p.Thr771=)
|
rs745323795
|
|
NM_021625.5(TRPV4):c.2325G>A (p.Arg775=)
|
|
|
NM_021625.5(TRPV4):c.2336+16T>G
|
rs1346228538
|
|
NM_021625.5(TRPV4):c.2336+18G>A
|
rs779341331
|
|
NM_021625.5(TRPV4):c.2336+7C>T
|
rs1889706613
|
|
NM_021625.5(TRPV4):c.2337-15C>T
|
rs2548709002
|
|
NM_021625.5(TRPV4):c.2361C>T (p.His787=)
|
rs1889550403
|
|
NM_021625.5(TRPV4):c.237G>A (p.Val79=)
|
rs2136660284
|
|
NM_021625.5(TRPV4):c.2385C>T (p.Ile795=)
|
rs770434546
|
|
NM_021625.5(TRPV4):c.2397G>A (p.Pro799=)
|
rs141301107
|
|
NM_021625.5(TRPV4):c.2415C>T (p.Tyr805=)
|
|
|
NM_021625.5(TRPV4):c.2418G>A (p.Gln806=)
|
rs1157330201
|
|
NM_021625.5(TRPV4):c.2421T>C (p.Tyr807=)
|
rs2136417346
|
|
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=)
|
rs34071623
|
|
NM_021625.5(TRPV4):c.2458+15G>T
|
rs372913114
|
|
NM_021625.5(TRPV4):c.2458+7G>A
|
rs1889541563
|
|
NM_021625.5(TRPV4):c.2459-10C>T
|
rs2548706905
|
|
NM_021625.5(TRPV4):c.2459-11T>C
|
rs367978761
|
|
NM_021625.5(TRPV4):c.2459-5T>C
|
rs1321942751
|
|
NM_021625.5(TRPV4):c.2481C>T (p.Pro827=)
|
rs775524996
|
|
NM_021625.5(TRPV4):c.2508G>T (p.Ser836=)
|
rs201884175
|
|
NM_021625.5(TRPV4):c.255G>A (p.Leu85=)
|
rs2136659978
|
|
NM_021625.5(TRPV4):c.2568C>T (p.His856=)
|
rs2136412290
|
|
NM_021625.5(TRPV4):c.256C>T (p.Leu86=)
|
|
|
NM_021625.5(TRPV4):c.2598T>G (p.Thr866=)
|
rs2548706400
|
|
NM_021625.5(TRPV4):c.268C>T (p.Leu90=)
|
rs2136659904
|
|
NM_021625.5(TRPV4):c.270A>G (p.Leu90=)
|
|
|
NM_021625.5(TRPV4):c.27C>T (p.Arg9=)
|
rs746618734
|
|
NM_021625.5(TRPV4):c.288G>T (p.Val96=)
|
rs1456271134
|
|
NM_021625.5(TRPV4):c.336C>A (p.Thr112=)
|
rs969086736
|
|
NM_021625.5(TRPV4):c.386+9T>C
|
rs2136658499
|
|
NM_021625.5(TRPV4):c.396G>T (p.Pro132=)
|
rs114101785
|
|
NM_021625.5(TRPV4):c.402C>T (p.Ser134=)
|
rs201241092
|
|
NM_021625.5(TRPV4):c.417C>T (p.Ala139=)
|
rs2548786856
|
|
NM_021625.5(TRPV4):c.432C>T (p.Pro144=)
|
rs1287007133
|
|
NM_021625.5(TRPV4):c.435C>T (p.Ile145=)
|
rs1891278222
|
|
NM_021625.5(TRPV4):c.450C>T (p.Asn150=)
|
rs2136608535
|
|
NM_021625.5(TRPV4):c.513A>G (p.Pro171=)
|
|
|
NM_021625.5(TRPV4):c.51G>A (p.Glu17=)
|
rs752911501
|
|
NM_021625.5(TRPV4):c.560-18G>C
|
|
|
NM_021625.5(TRPV4):c.560-8C>G
|
|
|
NM_021625.5(TRPV4):c.570G>A (p.Thr190=)
|
|
|
NM_021625.5(TRPV4):c.594C>G (p.Ala198=)
|
rs1890913966
|
|
NM_021625.5(TRPV4):c.603C>T (p.Asn201=)
|
rs2548768844
|
|
NM_021625.5(TRPV4):c.606G>T (p.Leu202=)
|
|
|
NM_021625.5(TRPV4):c.657C>T (p.Arg219=)
|
rs2548767924
|
|
NM_021625.5(TRPV4):c.672G>A (p.Arg224=)
|
rs2548767654
|
|
NM_021625.5(TRPV4):c.675G>A (p.Glu225=)
|
rs1338641750
|
|
NM_021625.5(TRPV4):c.687G>C (p.Ser229=)
|
rs545660001
|
|
NM_021625.5(TRPV4):c.712+14C>T
|
|
|
NM_021625.5(TRPV4):c.756C>T (p.His252=)
|
|
|
NM_021625.5(TRPV4):c.760G>A (p.Val254Met)
|
rs143548402
|
|
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu)
|
rs143548402
|
|
NM_021625.5(TRPV4):c.762G>A (p.Val254=)
|
rs2136537855
|
|
NM_021625.5(TRPV4):c.853+12C>T
|
rs778516382
|
|
NM_021625.5(TRPV4):c.854-20C>T
|
rs1890602180
|
|
NM_021625.5(TRPV4):c.858G>A (p.Glu286=)
|
rs1397584157
|
|
NM_021625.5(TRPV4):c.897C>T (p.His299=)
|
rs1749218716
|
|
NM_021625.5(TRPV4):c.915G>C (p.Thr305=)
|
rs1565870990
|
|
NM_021625.5(TRPV4):c.921C>T (p.Asn307=)
|
rs1259756946
|
|
NM_021625.5(TRPV4):c.957G>A (p.Ser319=)
|
rs116698155
|
|
NM_021625.5(TRPV4):c.957G>C (p.Ser319=)
|
rs116698155
|
|
NM_021625.5(TRPV4):c.957G>T (p.Ser319=)
|
rs116698155
|
|
NM_021625.5(TRPV4):c.966C>T (p.Asn322=)
|
rs1592838926
|
|
NM_021625.5(TRPV4):c.969A>C (p.Thr323=)
|
rs775556644
|
|
NM_030973.4(MED25):c.1014A>G (p.Pro338=)
|
rs1034116832
|
|
NM_030973.4(MED25):c.1026C>G (p.Ser342=)
|
rs1600325797
|
|
NM_030973.4(MED25):c.102G>A (p.Gly34=)
|
rs755369870
|
|
NM_030973.4(MED25):c.102G>T (p.Gly34=)
|
rs755369870
|
|
NM_030973.4(MED25):c.1038G>A (p.Leu346=)
|
rs759964732
|
|
NM_030973.4(MED25):c.1041C>T (p.Val347=)
|
rs1555802298
|
|
NM_030973.4(MED25):c.105C>G (p.Leu35=)
|
|
|
NM_030973.4(MED25):c.105C>T (p.Leu35=)
|
|
|
NM_030973.4(MED25):c.1065C>A (p.Gly355=)
|
rs779070350
|
|
NM_030973.4(MED25):c.1068G>A (p.Leu356=)
|
rs2074050942
|
|
NM_030973.4(MED25):c.1101+14C>T
|
rs922046069
|
|
NM_030973.4(MED25):c.1101+8C>T
|
rs1287606525
|
|
NM_030973.4(MED25):c.1102-14C>T
|
rs748971798
|
|
NM_030973.4(MED25):c.1102-4G>T
|
rs2074055837
|
|
NM_030973.4(MED25):c.1107C>T (p.Gly369=)
|
rs1450112631
|
|
NM_030973.4(MED25):c.1116C>G (p.Ala372=)
|
rs1439410614
|
|
NM_030973.4(MED25):c.114C>T (p.His38=)
|
rs2073954243
|
|
NM_030973.4(MED25):c.1170T>A (p.Gly390=)
|
rs755612050
|
|
NM_030973.4(MED25):c.1176G>A (p.Gln392=)
|
|
|
NM_030973.4(MED25):c.1188C>T (p.Ser396=)
|
rs2514513827
|
|
NM_030973.4(MED25):c.1198C>T (p.Leu400=)
|
rs778576788
|
|
NM_030973.4(MED25):c.1203C>T (p.Ala401=)
|
rs1322031888
|
|
NM_030973.4(MED25):c.1230+11dup
|
|
|
NM_030973.4(MED25):c.1230+7G>A
|
rs1412475364
|
|
NM_030973.4(MED25):c.1231-16C>T
|
rs2514514875
|
|
NM_030973.4(MED25):c.1231-20T>G
|
rs1405571642
|
|
NM_030973.4(MED25):c.123C>G (p.Leu41=)
|
rs771040258
|
|
NM_030973.4(MED25):c.1272G>A (p.Thr424=)
|
rs2514514985
|
|
NM_030973.4(MED25):c.1275G>A (p.Arg425=)
|
rs1437150824
|
|
NM_030973.4(MED25):c.1316+12T>C
|
rs1467060791
|
|
NM_030973.4(MED25):c.1316+18G>A
|
|
|
NM_030973.4(MED25):c.1316+20G>A
|
rs533964778
|
|
NM_030973.4(MED25):c.1316+20G>C
|
rs533964778
|
|
NM_030973.4(MED25):c.1317-16del
|
rs748829394
|
|
NM_030973.4(MED25):c.1317-20T>C
|
rs2514515232
|
|
NM_030973.4(MED25):c.1317-8G>A
|
rs1036590547
|
|
NM_030973.4(MED25):c.1317-8G>T
|
rs1036590547
|
|
NM_030973.4(MED25):c.134+14C>T
|
rs2073954636
|
|
NM_030973.4(MED25):c.134+15C>T
|
|
|
NM_030973.4(MED25):c.134+8C>T
|
rs2123860485
|
|
NM_030973.4(MED25):c.135-11T>C
|
rs2073955777
|
|
NM_030973.4(MED25):c.135-12C>G
|
rs369377037
|
|
NM_030973.4(MED25):c.135-12C>T
|
|
|
NM_030973.4(MED25):c.135-15T>C
|
rs1256237742
|
|
NM_030973.4(MED25):c.135-15T>G
|
rs1256237742
|
|
NM_030973.4(MED25):c.135-5C>T
|
rs758925407
|
|
NM_030973.4(MED25):c.1359C>T (p.Ile453=)
|
rs745910823
|
|
NM_030973.4(MED25):c.1374+18G>A
|
|
|
NM_030973.4(MED25):c.1375-10T>A
|
rs997080636
|
|
NM_030973.4(MED25):c.1375-16T>C
|
|
|
NM_030973.4(MED25):c.1375-5dup
|
rs2514515761
|
|
NM_030973.4(MED25):c.1375-7C>T
|
rs2123882866
|
|
NM_030973.4(MED25):c.1377C>A (p.Thr459=)
|
rs374928221
|
|
NM_030973.4(MED25):c.138T>C (p.Tyr46=)
|
rs758573961
|
|
NM_030973.4(MED25):c.1395C>T (p.Phe465=)
|
rs143046644
|
|
NM_030973.4(MED25):c.1482+12G>A
|
rs369550555
|
|
NM_030973.4(MED25):c.1482+9A>G
|
rs2123883050
|
|
NM_030973.4(MED25):c.1483-13G>A
|
rs886054581
|
|
NM_030973.4(MED25):c.1491C>T (p.Cys497=)
|
|
|
NM_030973.4(MED25):c.1497C>T (p.His499=)
|
rs2074084856
|
|
NM_030973.4(MED25):c.1521G>A (p.Glu507=)
|
rs374814628
|
|
NM_030973.4(MED25):c.1527C>G (p.Arg509=)
|
rs756350936
|
|
NM_030973.4(MED25):c.1548G>A (p.Ser516=)
|
rs370402922
|
|
NM_030973.4(MED25):c.1548G>C (p.Ser516=)
|
rs370402922
|
|
NM_030973.4(MED25):c.15C>T (p.Ser5=)
|
rs1568617655
|
|
NM_030973.4(MED25):c.1602C>T (p.Val534=)
|
rs2514519152
|
|
NM_030973.4(MED25):c.1674+17C>T
|
|
|
NM_030973.4(MED25):c.1674+19C>G
|
rs752522
|
|
NM_030973.4(MED25):c.1674+8T>A
|
rs2514519329
|
|
NM_030973.4(MED25):c.1686G>A (p.Gln562=)
|
rs934127928
|
|
NM_030973.4(MED25):c.1692A>T (p.Ala564=)
|
rs1328999071
|
|
NM_030973.4(MED25):c.1702C>T (p.Leu568=)
|
|
|
NM_030973.4(MED25):c.1704G>A (p.Leu568=)
|
rs1222662917
|
|
NM_030973.4(MED25):c.1722C>T (p.Asp574=)
|
rs1282972650
|
|
NM_030973.4(MED25):c.1731G>A (p.Arg577=)
|
rs1197708100
|
|
NM_030973.4(MED25):c.1734C>T (p.Pro578=)
|
rs2074090173
|
|
NM_030973.4(MED25):c.1746+20G>A
|
rs2123887846
|
|
NM_030973.4(MED25):c.1746+9A>G
|
rs1600330946
|
|
NM_030973.4(MED25):c.1747-18T>C
|
rs759379519
|
|
NM_030973.4(MED25):c.1747-20C>T
|
|
|
NM_030973.4(MED25):c.1749C>A (p.Leu583=)
|
rs2074091528
|
|
NM_030973.4(MED25):c.174G>A (p.Gly58=)
|
rs773338897
|
|
NM_030973.4(MED25):c.1755C>G (p.Leu585=)
|
rs1004381819
|
|
NM_030973.4(MED25):c.1761A>T (p.Pro587=)
|
rs1568625500
|
|
NM_030973.4(MED25):c.181-14T>C
|
|
|
NM_030973.4(MED25):c.181-17C>G
|
rs2514497453
|
|
NM_030973.4(MED25):c.181-4C>T
|
rs2123862076
|
|
NM_030973.4(MED25):c.181-8C>T
|
rs1469248647
|
|
NM_030973.4(MED25):c.1830T>G (p.Thr610=)
|
|
|
NM_030973.4(MED25):c.1833C>G (p.Ala611=)
|
rs1282958352
|
|
NM_030973.4(MED25):c.1842G>A (p.Pro614=)
|
|
|
NM_030973.4(MED25):c.1842G>C (p.Pro614=)
|
rs368884119
|
|
NM_030973.4(MED25):c.1857A>G (p.Gln619=)
|
|
|
NM_030973.4(MED25):c.186G>C (p.Gly62=)
|
rs2073963607
|
|
NM_030973.4(MED25):c.189G>A (p.Gly63=)
|
rs770307133
|
|
NM_030973.4(MED25):c.1902C>T (p.Ile634=)
|
|
|
NM_030973.4(MED25):c.1911C>T (p.Pro637=)
|
rs1490814799
|
|
NM_030973.4(MED25):c.1920T>C (p.Pro640=)
|
rs1600331507
|
|
NM_030973.4(MED25):c.1953C>T (p.Leu651=)
|
rs2123888595
|
|
NM_030973.4(MED25):c.1965+14G>T
|
rs1457024436
|
|
NM_030973.4(MED25):c.1965+16G>C
|
rs1005068403
|
|
NM_030973.4(MED25):c.1966-10_1966-9del
|
rs778581967
|
|
NM_030973.4(MED25):c.1966-15T>C
|
rs2514521553
|
|
NM_030973.4(MED25):c.1966-18CT[2]
|
rs754569108
|
|
NM_030973.4(MED25):c.1966-5C>G
|
|
|
NM_030973.4(MED25):c.1983C>T (p.Pro661=)
|
rs769678191
|
|
NM_030973.4(MED25):c.2037G>A (p.Leu679=)
|
rs2074097615
|
|
NM_030973.4(MED25):c.2055C>T (p.Gly685=)
|
|
|
NM_030973.4(MED25):c.2061G>A (p.Gly687=)
|
rs751782742
|
|
NM_030973.4(MED25):c.2082A>G (p.Pro694=)
|
|
|
NM_030973.4(MED25):c.2085C>T (p.Leu695=)
|
rs1600332106
|
|
NM_030973.4(MED25):c.2109C>T (p.Ser703=)
|
|
|
NM_030973.4(MED25):c.210G>A (p.Val70=)
|
rs2514497530
|
|
NM_030973.4(MED25):c.2130T>A (p.Pro710=)
|
rs1600332188
|
|
NM_030973.4(MED25):c.2146+13G>A
|
|
|
NM_030973.4(MED25):c.2146+8G>A
|
rs1457257440
|
|
NM_030973.4(MED25):c.2147-13C>T
|
|
|
NM_030973.4(MED25):c.2160G>A (p.Leu720=)
|
rs1181743382
|
|
NM_030973.4(MED25):c.2181G>C (p.Pro727=)
|
|
|
NM_030973.4(MED25):c.2181G>T (p.Pro727=)
|
rs775431728
|
|
NM_030973.4(MED25):c.2199G>T (p.Leu733=)
|
rs1384662126
|
|
NM_030973.4(MED25):c.2220C>T (p.Asp740=)
|
|
|
NM_030973.4(MED25):c.2235T>C (p.Asp745=)
|
rs2514523136
|
|
NM_030973.4(MED25):c.234C>T (p.Pro78=)
|
rs74863643
|
|
NM_030973.4(MED25):c.243C>T (p.Tyr81=)
|
rs2123862187
|
|
NM_030973.4(MED25):c.273C>T (p.Ala91=)
|
rs1600313252
|
|
NM_030973.4(MED25):c.288C>G (p.Thr96=)
|
rs2123862300
|
|
NM_030973.4(MED25):c.294C>G (p.Leu98=)
|
rs140379422
|
|
NM_030973.4(MED25):c.294C>T (p.Leu98=)
|
rs140379422
|
|
NM_030973.4(MED25):c.305+14C>G
|
rs773627830
|
|
NM_030973.4(MED25):c.305+15A>G
|
rs2123862362
|
|
NM_030973.4(MED25):c.305+7T>C
|
rs2514497788
|
|
NM_030973.4(MED25):c.306-15G>A
|
|
|
NM_030973.4(MED25):c.306-16C>A
|
rs574558795
|
|
NM_030973.4(MED25):c.306-16C>T
|
rs574558795
|
|
NM_030973.4(MED25):c.342C>A (p.Ile114=)
|
rs367931150
|
|
NM_030973.4(MED25):c.345G>A (p.Ala115=)
|
|
|
NM_030973.4(MED25):c.357C>T (p.Ser119=)
|
rs1008444770
|
|
NM_030973.4(MED25):c.372G>C (p.Leu124=)
|
rs765814691
|
|
NM_030973.4(MED25):c.404+12dup
|
rs769359694
|
|
NM_030973.4(MED25):c.405-12C>T
|
rs2514508765
|
|
NM_030973.4(MED25):c.405-16C>A
|
rs1394323521
|
|
NM_030973.4(MED25):c.405-18T>C
|
|
|
NM_030973.4(MED25):c.405-4G>A
|
rs1300189800
|
|
NM_030973.4(MED25):c.405-5G>C
|
rs2514508817
|
|
NM_030973.4(MED25):c.405-8C>A
|
rs758871852
|
|
NM_030973.4(MED25):c.414G>A (p.Thr138=)
|
rs1333998604
|
|
NM_030973.4(MED25):c.414G>C (p.Thr138=)
|
rs1333998604
|
|
NM_030973.4(MED25):c.432C>T (p.Leu144=)
|
rs150534771
|
|
NM_030973.4(MED25):c.48C>T (p.Ala16=)
|
rs775449916
|
|
NM_030973.4(MED25):c.525+12A>G
|
rs777951195
|
|
NM_030973.4(MED25):c.558G>A (p.Arg186=)
|
rs761471297
|
|
NM_030973.4(MED25):c.588G>A (p.Glu196=)
|
|
|
NM_030973.4(MED25):c.597C>G (p.Ala199=)
|
rs149788020
|
|
NM_030973.4(MED25):c.597C>T (p.Ala199=)
|
rs149788020
|
|
NM_030973.4(MED25):c.600C>A (p.Pro200=)
|
rs753910880
|
|
NM_030973.4(MED25):c.600C>G (p.Pro200=)
|
rs753910880
|
|
NM_030973.4(MED25):c.603G>A (p.Pro201=)
|
rs546857153
|
|
NM_030973.4(MED25):c.603G>C (p.Pro201=)
|
rs546857153
|
|
NM_030973.4(MED25):c.610C>T (p.Leu204=)
|
rs2123878440
|
|
NM_030973.4(MED25):c.633A>G (p.Thr211=)
|
rs369117035
|
|
NM_030973.4(MED25):c.633A>T (p.Thr211=)
|
rs369117035
|
|
NM_030973.4(MED25):c.688+14A>G
|
|
|
NM_030973.4(MED25):c.689-18C>T
|
|
|
NM_030973.4(MED25):c.6C>T (p.Val2=)
|
|
|
NM_030973.4(MED25):c.735C>G (p.Val245=)
|
rs774587834
|
|
NM_030973.4(MED25):c.739C>T (p.Leu247=)
|
|
|
NM_030973.4(MED25):c.750C>G (p.Ala250=)
|
rs1397405011
|
|
NM_030973.4(MED25):c.78C>T (p.Ala26=)
|
|
|
NM_030973.4(MED25):c.819+7A>G
|
rs771553031
|
|
NM_030973.4(MED25):c.819+9A>G
|
rs779630395
|
|
NM_030973.4(MED25):c.820-12T>C
|
|
|
NM_030973.4(MED25):c.820-16_820-9del
|
rs761656110
|
|
NM_030973.4(MED25):c.820-4A>G
|
rs2074047442
|
|
NM_030973.4(MED25):c.820-5C>T
|
rs2514511865
|
|
NM_030973.4(MED25):c.820-5del
|
rs1311007404
|
|
NM_030973.4(MED25):c.825C>G (p.Pro275=)
|
rs771874021
|
|
NM_030973.4(MED25):c.87A>G (p.Gly29=)
|
rs2514495580
|
|
NM_030973.4(MED25):c.888G>A (p.Lys296=)
|
rs2123879803
|
|
NM_030973.4(MED25):c.891T>C (p.Ala297=)
|
rs2514511983
|
|
NM_030973.4(MED25):c.895C>T (p.Leu299=)
|
rs2514511999
|
|
NM_030973.4(MED25):c.897G>A (p.Leu299=)
|
rs1394654443
|
|
NM_030973.4(MED25):c.903T>G (p.Pro301=)
|
rs2514512016
|
|
NM_030973.4(MED25):c.939T>A (p.Ala313=)
|
|
|
NM_030973.4(MED25):c.945A>C (p.Gly315=)
|
rs2123880035
|
|
NM_030973.4(MED25):c.969C>T (p.Ala323=)
|
rs2074049920
|
|
NM_170707.4(LMNA):c.1005G>A (p.Arg335=)
|
rs2102887328
|
|
NM_170707.4(LMNA):c.1009C>T (p.Leu337=)
|
|
|
NM_170707.4(LMNA):c.1026G>A (p.Glu342=)
|
rs1196328249
|
|
NM_170707.4(LMNA):c.1029G>C (p.Arg343=)
|
rs1553265680
|
|
NM_170707.4(LMNA):c.102C>T (p.Asp34=)
|
rs2527830824
|
|
NM_170707.4(LMNA):c.1032G>A (p.Glu344=)
|
rs2527991228
|
|
NM_170707.4(LMNA):c.103C>T (p.Leu35=)
|
rs56694480
|
|
NM_170707.4(LMNA):c.1050A>G (p.Ala350=)
|
|
|
NM_170707.4(LMNA):c.1062G>A (p.Gln354=)
|
rs1323179494
|
|
NM_170707.4(LMNA):c.1068G>A (p.Leu356=)
|
rs2527991976
|
|
NM_170707.4(LMNA):c.1077C>T (p.Tyr359=)
|
rs1651568187
|
|
NM_170707.4(LMNA):c.1095C>A (p.Ile365=)
|
|
|
NM_170707.4(LMNA):c.1116G>A (p.Glu372=)
|
rs1553265736
|
|
NM_170707.4(LMNA):c.1119C>T (p.Ile373=)
|
rs1340894696
|
|
NM_170707.4(LMNA):c.1122C>T (p.His374=)
|
rs143715750
|
|
NM_170707.4(LMNA):c.1128C>T (p.Tyr376=)
|
rs1288715374
|
|
NM_170707.4(LMNA):c.1157+13G>A
|
rs752948856
|
|
NM_170707.4(LMNA):c.1157+16G>T
|
rs534807
|
|
NM_170707.4(LMNA):c.1157+30G>A
|
rs2527994445
|
|
NM_170707.4(LMNA):c.1157+40T>G
|
|
|
NM_170707.4(LMNA):c.1157+45C>G
|
|
|
NM_170707.4(LMNA):c.1157+7T>C
|
rs1436074094
|
|
NM_170707.4(LMNA):c.1157+8G>T
|
|
|
NM_170707.4(LMNA):c.1158-10C>T
|
rs1572363723
|
|
NM_170707.4(LMNA):c.1158-14C>T
|
rs1651595760
|
|
NM_170707.4(LMNA):c.1158-16G>A
|
rs2527995100
|
|
NM_170707.4(LMNA):c.1158-16G>T
|
rs2527995100
|
|
NM_170707.4(LMNA):c.1158-17G>T
|
|
|
NM_170707.4(LMNA):c.1158-4C>A
|
rs2102889270
|
|
NM_170707.4(LMNA):c.1158-5C>G
|
rs1328158335
|
|
NM_170707.4(LMNA):c.1158-6C>T
|
rs1375538892
|
|
NM_170707.4(LMNA):c.1158-7T>C
|
|
|
NM_170707.4(LMNA):c.1165C>T (p.Leu389=)
|
|
|
NM_170707.4(LMNA):c.1170C>T (p.Ser390=)
|
rs2102889456
|
|
NM_170707.4(LMNA):c.1176C>T (p.Ser392=)
|
rs1045472115
|
|
NM_170707.4(LMNA):c.1179T>C (p.Pro393=)
|
rs1651603737
|
|
NM_170707.4(LMNA):c.1182C>G (p.Thr394=)
|
rs1409406468
|
|
NM_170707.4(LMNA):c.1185G>T (p.Ser395=)
|
rs397517890
|
|
NM_170707.4(LMNA):c.1197T>C (p.Arg399=)
|
rs749284229
|
|
NM_170707.4(LMNA):c.1203T>G (p.Arg401=)
|
rs1651610295
|
|
NM_170707.4(LMNA):c.1209C>T (p.Ser403=)
|
rs776975256
|
|
NM_170707.4(LMNA):c.1215C>T (p.His405=)
|
rs2527997089
|
|
NM_170707.4(LMNA):c.1218A>G (p.Ser406=)
|
rs1651612863
|
|
NM_170707.4(LMNA):c.1227A>T (p.Thr409=)
|
|
|
NM_170707.4(LMNA):c.1236G>A (p.Gly412=)
|
rs763537103
|
|
NM_170707.4(LMNA):c.124T>C (p.Leu42=)
|
rs2527831211
|
|
NM_170707.4(LMNA):c.1254G>A (p.Lys418=)
|
rs2102890270
|
|
NM_170707.4(LMNA):c.1257C>T (p.Arg419=)
|
rs748980648
|
|
NM_170707.4(LMNA):c.1272T>C (p.Thr424=)
|
rs2102890465
|
|
NM_170707.4(LMNA):c.1278C>T (p.Ser426=)
|
rs2527998736
|
|
NM_170707.4(LMNA):c.129G>C (p.Ala43=)
|
rs1215163704
|
|
NM_170707.4(LMNA):c.12G>C (p.Pro4=)
|
rs369823958
|
|
NM_170707.4(LMNA):c.1302A>G (p.Ala434=)
|
rs2102890759
|
|
NM_170707.4(LMNA):c.1305C>T (p.Arg435=)
|
rs1651632931
|
|
NM_170707.4(LMNA):c.1314G>T (p.Gly438=)
|
rs774817302
|
|
NM_170707.4(LMNA):c.1317C>T (p.Arg439=)
|
rs374804871
|
|
NM_170707.4(LMNA):c.1323C>A (p.Ala441=)
|
rs140194535
|
|
NM_170707.4(LMNA):c.1323C>G (p.Ala441=)
|
|
|
NM_170707.4(LMNA):c.132C>T (p.Val44=)
|
rs762049172
|
|
NM_170707.4(LMNA):c.1335G>A (p.Val445=)
|
rs2528000246
|
|
NM_170707.4(LMNA):c.1350G>A (p.Lys450=)
|
rs2102891265
|
|
NM_170707.4(LMNA):c.1356C>A (p.Val452=)
|
rs1572364681
|
|
NM_170707.4(LMNA):c.1359G>A (p.Arg453=)
|
rs1321318572
|
|
NM_170707.4(LMNA):c.1374C>T (p.Ser458=)
|
rs1572364784
|
|
NM_170707.4(LMNA):c.1377T>C (p.Asn459=)
|
|
|
NM_170707.4(LMNA):c.1380+14C>G
|
rs924435877
|
|
NM_170707.4(LMNA):c.1380+17G>A
|
rs2102891710
|
|
NM_170707.4(LMNA):c.1380+9C>T
|
|
|
NM_170707.4(LMNA):c.1381-14T>G
|
|
|
NM_170707.4(LMNA):c.1381-17C>A
|
rs1435399655
|
|
NM_170707.4(LMNA):c.1381-5G>T
|
rs730880133
|
|
NM_170707.4(LMNA):c.1381-6C>G
|
rs371635492
|
|
NM_170707.4(LMNA):c.1383C>T (p.Asp461=)
|
rs1278554399
|
|
NM_170707.4(LMNA):c.1386G>A (p.Gln462=)
|
|
|
NM_170707.4(LMNA):c.138C>T (p.Ile46=)
|
rs1553261914
|
|
NM_170707.4(LMNA):c.1398T>C (p.Asn466=)
|
rs779266133
|
|
NM_170707.4(LMNA):c.1407C>A (p.Ile469=)
|
rs1471045711
|
|
NM_170707.4(LMNA):c.1413C>A (p.Arg471=)
|
rs1572365626
|
|
NM_170707.4(LMNA):c.141C>T (p.Asp47=)
|
rs1649715628
|
|
NM_170707.4(LMNA):c.1488+12G>C
|
|
|
NM_170707.4(LMNA):c.1488+17T>C
|
rs2528009812
|
|
NM_170707.4(LMNA):c.1489-16C>T
|
rs201379016
|
|
NM_170707.4(LMNA):c.1489-16del
|
rs769175090
|
|
NM_170707.4(LMNA):c.1489-17C>A
|
rs2528010295
|
|
NM_170707.4(LMNA):c.1489-17C>T
|
rs2528010295
|
|
NM_170707.4(LMNA):c.1489-8C>T
|
rs2528010385
|
|
NM_170707.4(LMNA):c.1497T>A (p.Ala499=)
|
rs1431212733
|
|
NM_170707.4(LMNA):c.1500A>G (p.Ala500=)
|
rs2102894981
|
|
NM_170707.4(LMNA):c.1524C>A (p.Pro508=)
|
rs772978446
|
|
NM_170707.4(LMNA):c.1530C>A (p.Thr510=)
|
|
|
NM_170707.4(LMNA):c.1534C>T (p.Leu512=)
|
rs2102895384
|
|
NM_170707.4(LMNA):c.1536G>A (p.Leu512=)
|
rs1208359364
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170707.4(LMNA):c.1584G>C (p.Thr528=)
|
rs80356812
|
|
NM_170707.4(LMNA):c.1593C>A (p.Ile531=)
|
rs1651734080
|
|
NM_170707.4(LMNA):c.1599C>T (p.Ser533=)
|
rs886043346
|
|
NM_170707.4(LMNA):c.15C>T (p.Ser5=)
|
rs1572331734
|
|
NM_170707.4(LMNA):c.1602T>C (p.Thr534=)
|
rs781763410
|
|
NM_170707.4(LMNA):c.1608+14G>A
|
rs1486746526
|
|
NM_170707.4(LMNA):c.1608+15del
|
rs2528014035
|
|
NM_170707.4(LMNA):c.1609-16T>C
|
rs2528017948
|
|
NM_170707.4(LMNA):c.1609-19G>C
|
|
|
NM_170707.4(LMNA):c.1609-4C>T
|
rs1553266259
|
|
NM_170707.4(LMNA):c.1609-6C>T
|
rs1462219411
|
|
NM_170707.4(LMNA):c.1609-7C>T
|
rs1372108861
|
|
NM_170707.4(LMNA):c.1609-8C>G
|
rs879253917
|
|
NM_170707.4(LMNA):c.1609-9C>A
|
rs1057522558
|
|
NM_170707.4(LMNA):c.1609-9C>T
|
rs1057522558
|
|
NM_170707.4(LMNA):c.1617C>G (p.Ala539=)
|
rs1326511337
|
|
NM_170707.4(LMNA):c.1627C>T (p.Leu543=)
|
|
|
NM_170707.4(LMNA):c.162G>A (p.Thr54=)
|
rs1649719337
|
|
NM_170707.4(LMNA):c.1632G>A (p.Val544=)
|
|
|
NM_170707.4(LMNA):c.1644T>G (p.Thr548=)
|
rs2102898288
|
|
NM_170707.4(LMNA):c.1659C>T (p.Asp553=)
|
rs748768783
|
|
NM_170707.4(LMNA):c.1699-17C>T
|
rs2528026588
|
|
NM_170707.4(LMNA):c.1699-18C>G
|
rs2528026576
|
|
NM_170707.4(LMNA):c.1699-9_1699-8del
|
rs1572369030
|
|
NM_170707.4(LMNA):c.1701C>T (p.Gly567=)
|
rs1174456476
|
|
NM_170707.4(LMNA):c.1722G>A (p.Gly574=)
|
rs2528027163
|
|
NM_170707.4(LMNA):c.1725C>T (p.Asp575=)
|
rs2528027194
|
|
NM_170707.4(LMNA):c.1737C>T (p.Tyr579=)
|
rs2528027300
|
|
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
NM_170707.4(LMNA):c.1758G>A (p.Val586=)
|
rs2102901371
|
|
NM_170707.4(LMNA):c.1759C>T (p.Leu587=)
|
rs1252289177
|
|
NM_170707.4(LMNA):c.175C>T (p.Leu59=)
|
rs2527832101
|
|
NM_170707.4(LMNA):c.1767G>T (p.Gly589=)
|
rs1572369259
|
|
NM_170707.4(LMNA):c.1770C>G (p.Thr590=)
|
rs397517896
|
|
NM_170707.4(LMNA):c.1785C>G (p.Ala595=)
|
|
|
NM_170707.4(LMNA):c.1788C>T (p.Asp596=)
|
rs2528028154
|
|
NM_170707.4(LMNA):c.1794A>G (p.Ala598=)
|
rs1052149025
|
|
NM_170707.4(LMNA):c.1809A>G (p.Ser603=)
|
rs2102901712
|
|
NM_170707.4(LMNA):c.1812A>G (p.Gly604=)
|
rs775835223
|
|
NM_170707.4(LMNA):c.1815C>A (p.Ala605=)
|
rs2102901765
|
|
NM_170707.4(LMNA):c.1818G>A (p.Gln606=)
|
rs1060504514
|
|
NM_170707.4(LMNA):c.1827A>T (p.Gly609=)
|
rs1558135172
|
|
NM_170707.4(LMNA):c.1854C>T (p.Ser618=)
|
rs1302676471
|
|
NM_170707.4(LMNA):c.1863G>C (p.Thr621=)
|
|
|
NM_170707.4(LMNA):c.1884T>C (p.Ser628=)
|
|
|
NM_170707.4(LMNA):c.1887G>T (p.Val629=)
|
rs777055343
|
|
NM_170707.4(LMNA):c.1890G>C (p.Gly630=)
|
rs770389147
|
|
NM_170707.4(LMNA):c.1893C>A (p.Gly631=)
|
rs2102902282
|
|
NM_170707.4(LMNA):c.1899G>A (p.Gly633=)
|
rs1572369732
|
|
NM_170707.4(LMNA):c.189C>A (p.Ile63=)
|
rs767976986
|
|
NM_170707.4(LMNA):c.1902T>C (p.Gly634=)
|
rs1572369763
|
|
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu)
|
rs117939448
|
|
NM_170707.4(LMNA):c.1920T>C (p.Asn640=)
|
rs2102902482
|
|
NM_170707.4(LMNA):c.1923G>A (p.Leu641=)
|
|
|
NM_170707.4(LMNA):c.1923G>C (p.Leu641=)
|
rs2528030998
|
|
NM_170707.4(LMNA):c.1926C>T (p.Val642=)
|
rs2528031034
|
|
NM_170707.4(LMNA):c.1935C>T (p.Ser645=)
|
rs2528031231
|
|
NM_170707.4(LMNA):c.195G>A (p.Glu65=)
|
rs1362086864
|
|
NM_170707.4(LMNA):c.1965C>G (p.Thr655=)
|
rs781255269
|
|
NM_170707.4(LMNA):c.1965C>T (p.Thr655=)
|
rs781255269
|
|
NM_170707.4(LMNA):c.1968+19G>C
|
rs770112214
|
|
NM_170707.4(LMNA):c.1969-14G>C
|
rs2528034288
|
|
NM_170707.4(LMNA):c.1969-18_1969-16del
|
rs2528034269
|
|
NM_170707.4(LMNA):c.1969-8T>C
|
rs2102903473
|
|
NM_170707.4(LMNA):c.1971C>T (p.Ser657=)
|
rs1023544978
|
|
NM_170707.4(LMNA):c.1995A>G (p.Ter665=)
|
|
|
NM_170707.4(LMNA):c.204G>A (p.Glu68=)
|
rs753304214
|
|
NM_170707.4(LMNA):c.210C>A (p.Val70=)
|
rs756880374
|
|
NM_170707.4(LMNA):c.21G>A (p.Arg7=)
|
rs2102816901
|
|
NM_170707.4(LMNA):c.21G>C (p.Arg7=)
|
rs2102816901
|
|
NM_170707.4(LMNA):c.243C>T (p.Tyr81=)
|
rs2102818502
|
|
NM_170707.4(LMNA):c.249C>G (p.Ala83=)
|
rs746916710
|
|
NM_170707.4(LMNA):c.249C>T (p.Ala83=)
|
rs746916710
|
|
NM_170707.4(LMNA):c.24C>A (p.Arg8=)
|
rs1337375663
|
|
NM_170707.4(LMNA):c.261T>C (p.Asp87=)
|
rs397517900
|
|
NM_170707.4(LMNA):c.273C>T (p.Thr91=)
|
rs1649734316
|
|
NM_170707.4(LMNA):c.282A>G (p.Ser94=)
|
rs2527833885
|
|
NM_170707.4(LMNA):c.297C>T (p.Arg99=)
|
rs2527834180
|
|
NM_170707.4(LMNA):c.304C>T (p.Leu102=)
|
rs763033565
|
|
NM_170707.4(LMNA):c.306G>A (p.Leu102=)
|
rs2527834337
|
|
NM_170707.4(LMNA):c.318G>C (p.Leu106=)
|
rs1649739672
|
|
NM_170707.4(LMNA):c.354G>A (p.Ala118=)
|
rs2102819179
|
|
NM_170707.4(LMNA):c.356+10C>A
|
rs2102819259
|
|
NM_170707.4(LMNA):c.356+12C>T
|
rs1649747809
|
|
NM_170707.4(LMNA):c.356+15G>A
|
rs2527835465
|
|
NM_170707.4(LMNA):c.356+17G>T
|
rs2527835489
|
|
NM_170707.4(LMNA):c.357-18C>T
|
|
|
NM_170707.4(LMNA):c.357-6C>G
|
rs1248979959
|
|
NM_170707.4(LMNA):c.357-9C>T
|
rs1186195332
|
|
NM_170707.4(LMNA):c.36C>T (p.Ser12=)
|
|
|
NM_170707.4(LMNA):c.375T>C (p.Gly125=)
|
rs1164862537
|
|
NM_170707.4(LMNA):c.378C>T (p.Asp126=)
|
rs869025456
|
|
NM_170707.4(LMNA):c.379C>T (p.Leu127=)
|
rs1428192739
|
|
NM_170707.4(LMNA):c.381G>C (p.Leu127=)
|
|
|
NM_170707.4(LMNA):c.384A>T (p.Ile128=)
|
|
|
NM_170707.4(LMNA):c.393G>A (p.Gln131=)
|
|
|
NM_170707.4(LMNA):c.39G>A (p.Gly13=)
|
rs747663457
|
|
NM_170707.4(LMNA):c.423G>A (p.Leu141=)
|
rs2102865822
|
|
NM_170707.4(LMNA):c.435G>A (p.Glu145=)
|
rs1228858436
|
|
NM_170707.4(LMNA):c.441A>T (p.Ala147=)
|
|
|
NM_170707.4(LMNA):c.472C>T (p.Leu158=)
|
rs2102866147
|
|
NM_170707.4(LMNA):c.495G>T (p.Leu165=)
|
rs2102866374
|
|
NM_170707.4(LMNA):c.496C>A (p.Arg166=)
|
rs370200334
|
|
NM_170707.4(LMNA):c.504G>A (p.Gln168=)
|
rs747771347
|
|
NM_170707.4(LMNA):c.513+11C>A
|
rs1331483345
|
|
NM_170707.4(LMNA):c.513+18G>A
|
|
|
NM_170707.4(LMNA):c.513+19G>T
|
rs2527938512
|
|
NM_170707.4(LMNA):c.513+20C>T
|
|
|
NM_170707.4(LMNA):c.513+45T>C
|
rs878853220
|
|
NM_170707.4(LMNA):c.513+6_513+20dup
|
rs2527938232
|
|
NM_170707.4(LMNA):c.513+8C>T
|
rs1060504515
|
|
NM_170707.4(LMNA):c.514-7dup
|
rs757260455
|
|
NM_170707.4(LMNA):c.525C>T (p.Ala175=)
|
|
|
NM_170707.4(LMNA):c.526C>T (p.Leu176=)
|
rs149113760
|
|
NM_170707.4(LMNA):c.528A>T (p.Leu176=)
|
rs1026599240
|
|
NM_170707.4(LMNA):c.531T>C (p.Gly177=)
|
rs2527966650
|
|
NM_170707.4(LMNA):c.570G>A (p.Arg190=)
|
rs2102878622
|
|
NM_170707.4(LMNA):c.570G>C (p.Arg190=)
|
rs2102878622
|
|
NM_170707.4(LMNA):c.582G>A (p.Glu194=)
|
rs2527967473
|
|
NM_170707.4(LMNA):c.597C>T (p.Thr199=)
|
rs755777307
|
|
NM_170707.4(LMNA):c.609A>G (p.Glu203=)
|
rs2102879074
|
|
NM_170707.4(LMNA):c.610C>T (p.Leu204=)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.615C>T (p.Asp205=)
|
rs1651353830
|
|
NM_170707.4(LMNA):c.624G>A (p.Lys208=)
|
rs1651355363
|
|
NM_170707.4(LMNA):c.639+10G>C
|
rs1266133241
|
|
NM_170707.4(LMNA):c.639+12G>T
|
|
|
NM_170707.4(LMNA):c.639+13del
|
rs2527969025
|
|
NM_170707.4(LMNA):c.639+18C>T
|
rs2102879461
|
|
NM_170707.4(LMNA):c.639+9T>C
|
rs745768694
|
|
NM_170707.4(LMNA):c.640-11A>T
|
rs727504932
|
|
NM_170707.4(LMNA):c.640-11_640-7dup
|
rs2527971688
|
|
NM_170707.4(LMNA):c.640-15del
|
rs2102880354
|
|
NM_170707.4(LMNA):c.640-16C>T
|
rs1651385574
|
|
NM_170707.4(LMNA):c.640-20C>T
|
rs1244747319
|
|
NM_170707.4(LMNA):c.640-7C>G
|
rs2102880401
|
|
NM_170707.4(LMNA):c.645G>A (p.Leu215=)
|
rs80356808
|
|
NM_170707.4(LMNA):c.66G>A (p.Ser22=)
|
rs886043729
|
|
NM_170707.4(LMNA):c.678G>T (p.Leu226=)
|
rs964377328
|
|
NM_170707.4(LMNA):c.687T>C (p.Ile229=)
|
rs2102880818
|
|
NM_170707.4(LMNA):c.696G>C (p.Gly232=)
|
rs1651399073
|
|
NM_170707.4(LMNA):c.699G>A (p.Lys233=)
|
rs1340480656
|
|
NM_170707.4(LMNA):c.711T>C (p.Phe237=)
|
rs768081358
|
|
NM_170707.4(LMNA):c.729T>C (p.Asp243=)
|
rs753243743
|
|
NM_170707.4(LMNA):c.744G>C (p.Leu248=)
|
rs2527973996
|
|
NM_170707.4(LMNA):c.750C>T (p.Ala250=)
|
rs2102881551
|
|
NM_170707.4(LMNA):c.75C>T (p.Arg25=)
|
rs80356804
|
|
NM_170707.4(LMNA):c.765G>A (p.Gln255=)
|
rs1651412868
|
|
NM_170707.4(LMNA):c.774G>A (p.Gln258=)
|
rs2102881783
|
|
NM_170707.4(LMNA):c.786G>A (p.Glu262=)
|
rs1182407083
|
|
NM_170707.4(LMNA):c.810+13G>A
|
rs11264444
|
|
NM_170707.4(LMNA):c.810+15T>C
|
|
|
NM_170707.4(LMNA):c.810+19T>C
|
rs1651424351
|
|
NM_170707.4(LMNA):c.811-13T>C
|
|
|
NM_170707.4(LMNA):c.811-4C>G
|
rs2102883092
|
|
NM_170707.4(LMNA):c.811-9C>A
|
rs2527978372
|
|
NM_170707.4(LMNA):c.843C>T (p.Asn281=)
|
rs1651447057
|
|
NM_170707.4(LMNA):c.852G>A (p.Leu284=)
|
rs1273837882
|
|
NM_170707.4(LMNA):c.852G>C (p.Leu284=)
|
rs1273837882
|
|
NM_170707.4(LMNA):c.852G>T (p.Leu284=)
|
rs1273837882
|
|
NM_170707.4(LMNA):c.873G>A (p.Glu291=)
|
rs2527980062
|
|
NM_170707.4(LMNA):c.876G>A (p.Leu292=)
|
rs2102883669
|
|
NM_170707.4(LMNA):c.87G>T (p.Leu29=)
|
rs2527830495
|
|
NM_170707.4(LMNA):c.882G>A (p.Gln294=)
|
|
|
NM_170707.4(LMNA):c.888C>T (p.Arg296=)
|
rs2527980511
|
|
NM_170707.4(LMNA):c.891C>T (p.Ile297=)
|
|
|
NM_170707.4(LMNA):c.894C>T (p.Arg298=)
|
rs769404097
|
|
NM_170707.4(LMNA):c.897C>T (p.Ile299=)
|
rs762718963
|
|
NM_170707.4(LMNA):c.909T>A (p.Ser303=)
|
rs1432653704
|
|
NM_170707.4(LMNA):c.90G>A (p.Gln30=)
|
rs1325971304
|
|
NM_170707.4(LMNA):c.927C>A (p.Leu309=)
|
rs752558753
|
|
NM_170707.4(LMNA):c.927C>T (p.Leu309=)
|
rs752558753
|
|
NM_170707.4(LMNA):c.936+10C>T
|
rs2527982359
|
|
NM_170707.4(LMNA):c.936+15C>T
|
rs2102884411
|
|
NM_170707.4(LMNA):c.936+16A>G
|
rs750450280
|
|
NM_170707.4(LMNA):c.936+17C>T
|
rs2527982484
|
|
NM_170707.4(LMNA):c.937-11C>A
|
rs267607645
|
|
NM_170707.4(LMNA):c.937-13C>T
|
|
|
NM_170707.4(LMNA):c.937-15C>T
|
rs1412388757
|
|
NM_170707.4(LMNA):c.937-20A>G
|
rs1572362332
|
|
NM_170707.4(LMNA):c.937-5T>C
|
rs1001248677
|
|
NM_170707.4(LMNA):c.937-6C>A
|
rs759083379
|
|
NM_170707.4(LMNA):c.937-6C>G
|
|
|
NM_170707.4(LMNA):c.937-6C>T
|
rs759083379
|
|
NM_170707.4(LMNA):c.937-7C>A
|
rs267607681
|
|
NM_170707.4(LMNA):c.937-7C>T
|
rs267607681
|
|
NM_170707.4(LMNA):c.937-8C>G
|
rs751707982
|
|
NM_170707.4(LMNA):c.937-8C>T
|
rs751707982
|
|
NM_170707.4(LMNA):c.937-9C>A
|
rs1332011298
|
|
NM_170707.4(LMNA):c.945C>T (p.Ala315=)
|
rs2527989156
|
|
NM_170707.4(LMNA):c.951G>A (p.Glu317=)
|
rs1278448557
|
|
NM_170707.4(LMNA):c.967C>T (p.Leu323=)
|
rs1651541956
|
|
NM_170707.4(LMNA):c.969G>A (p.Leu323=)
|
rs1558130869
|
|
NM_170707.4(LMNA):c.996C>T (p.Asp332=)
|
rs1471655848
|
|