NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_005199.5(CHRNG):c.195+14C>T
|
rs200640510
|
0.00299
|
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln)
|
rs148468628
|
0.00262
|
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=)
|
rs150638770
|
0.00220
|
NM_000079.4(CHRNA1):c.-37A>G
|
rs182459320
|
0.00217
|
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)
|
rs114463490
|
0.00175
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr)
|
rs149292107
|
0.00079
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly)
|
rs144533405
|
0.00065
|
NM_000079.4(CHRNA1):c.*411G>A
|
rs560280191
|
0.00057
|
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)
|
rs146899588
|
0.00054
|
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)
|
rs202209156
|
0.00051
|
NM_000751.3(CHRND):c.408C>T (p.Tyr136=)
|
rs112921420
|
0.00046
|
NM_000751.3(CHRND):c.1416C>T (p.Leu472=)
|
rs145857136
|
0.00041
|
NM_000079.4(CHRNA1):c.779-12_779-11del
|
rs1491478953
|
0.00039
|
NM_000079.4(CHRNA1):c.780G>A (p.Gly260=)
|
rs148502695
|
0.00036
|
NM_000751.3(CHRND):c.198+14C>T
|
rs199538903
|
0.00036
|
NM_000751.3(CHRND):c.44C>T (p.Ala15Val)
|
rs142531974
|
0.00036
|
NM_000751.3(CHRND):c.813G>A (p.Pro271=)
|
rs147073853
|
0.00036
|
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser)
|
rs139190636
|
0.00035
|
NM_000751.3(CHRND):c.*676G>A
|
rs183259359
|
0.00032
|
NM_000751.3(CHRND):c.933-9T>C
|
rs199592458
|
0.00031
|
NM_000751.3(CHRND):c.651G>A (p.Pro217=)
|
rs146205427
|
0.00026
|
NM_000079.4(CHRNA1):c.861G>A (p.Thr287=)
|
rs144020157
|
0.00022
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=)
|
rs762327875
|
0.00021
|
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)
|
rs151081792
|
0.00020
|
NM_000751.3(CHRND):c.45G>A (p.Ala15=)
|
rs138609765
|
0.00020
|
NM_000751.3(CHRND):c.932+10G>A
|
rs370309294
|
0.00020
|
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr)
|
rs146863119
|
0.00019
|
NM_000751.3(CHRND):c.728G>A (p.Arg243His)
|
rs148869069
|
0.00019
|
NM_000079.4(CHRNA1):c.945C>T (p.Val315=)
|
rs371524795
|
0.00016
|
NM_000079.4(CHRNA1):c.324A>C (p.Pro108=)
|
rs199555685
|
0.00014
|
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)
|
rs144433265
|
0.00014
|
NM_000751.3(CHRND):c.711C>T (p.Thr237=)
|
rs752356816
|
0.00014
|
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val)
|
rs768878508
|
0.00013
|
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)
|
rs368695808
|
0.00013
|
NM_000751.3(CHRND):c.*908A>G
|
rs547787086
|
0.00012
|
NM_000079.4(CHRNA1):c.1002+9G>A
|
rs368959759
|
0.00011
|
NM_000079.4(CHRNA1):c.189+18G>A
|
rs201082834
|
0.00011
|
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)
|
rs141733086
|
0.00011
|
NM_000751.3(CHRND):c.620-7C>T
|
rs532055784
|
0.00011
|
NM_000079.4(CHRNA1):c.190-18C>T
|
rs769989280
|
0.00010
|
NM_000079.4(CHRNA1):c.546C>T (p.Ser182=)
|
rs749002411
|
0.00010
|
NM_000751.3(CHRND):c.1048-7G>T
|
rs369026633
|
0.00010
|
NM_000751.3(CHRND):c.1125G>A (p.Val375=)
|
rs143246852
|
0.00010
|
NM_000079.4(CHRNA1):c.372G>A (p.Lys124=)
|
rs143047599
|
0.00009
|
NM_000079.4(CHRNA1):c.657G>C (p.Leu219=)
|
rs375856493
|
0.00009
|
NM_000751.3(CHRND):c.198+7G>A
|
rs372767822
|
0.00009
|
NM_000751.3(CHRND):c.480C>T (p.Phe160=)
|
rs200986300
|
0.00009
|
NM_000751.3(CHRND):c.705C>T (p.Asp235=)
|
rs145634347
|
0.00009
|
NM_000079.4(CHRNA1):c.525C>T (p.Val175=)
|
rs186421442
|
0.00008
|
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=)
|
rs189442556
|
0.00008
|
NM_000751.3(CHRND):c.360C>T (p.Asp120=)
|
rs764641517
|
0.00008
|
NM_000751.3(CHRND):c.411C>T (p.Gly137=)
|
rs373578965
|
0.00008
|
NM_000751.3(CHRND):c.53-16C>T
|
rs776242631
|
0.00008
|
NM_000751.3(CHRND):c.1035G>A (p.Glu345=)
|
rs548168819
|
0.00007
|
NM_000079.4(CHRNA1):c.1242+10G>A
|
rs758078454
|
0.00006
|
NM_000079.4(CHRNA1):c.541-15del
|
rs748211851
|
0.00006
|
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys)
|
rs368979094
|
0.00006
|
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile)
|
rs200102479
|
0.00006
|
NM_000079.4(CHRNA1):c.927C>A (p.Ile309=)
|
rs758834482
|
0.00006
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
NM_000751.3(CHRND):c.1476C>T (p.Gly492=)
|
rs748744922
|
0.00006
|
NM_000751.3(CHRND):c.415G>A (p.Val139Met)
|
rs147452877
|
0.00006
|
NM_000079.4(CHRNA1):c.63C>T (p.Ser21=)
|
rs751313425
|
0.00005
|
NM_000751.3(CHRND):c.225C>G (p.Thr75=)
|
rs146508326
|
0.00005
|
NM_000751.3(CHRND):c.582C>T (p.Pro194=)
|
rs773089899
|
0.00005
|
NM_000751.3(CHRND):c.849G>A (p.Ser283=)
|
rs749757968
|
0.00005
|
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)
|
rs886055151
|
0.00004
|
NM_000079.4(CHRNA1):c.144C>T (p.Val48=)
|
rs766106058
|
0.00004
|
NM_000079.4(CHRNA1):c.189+16T>A
|
rs1419917128
|
0.00004
|
NM_000079.4(CHRNA1):c.235-18G>A
|
rs1162280178
|
0.00004
|
NM_000079.4(CHRNA1):c.345-10C>T
|
rs775001526
|
0.00004
|
NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser)
|
rs772271812
|
0.00004
|
NM_000079.4(CHRNA1):c.675C>T (p.Phe225=)
|
rs531534298
|
0.00004
|
NM_000079.4(CHRNA1):c.750C>T (p.Gly250=)
|
rs186607397
|
0.00004
|
NM_000751.3(CHRND):c.1253-10T>G
|
rs199508773
|
0.00004
|
NM_000751.3(CHRND):c.390C>T (p.Asn130=)
|
rs55700159
|
0.00004
|
NM_000751.3(CHRND):c.620-9C>T
|
rs112019415
|
0.00004
|
NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=)
|
rs776420240
|
0.00003
|
NM_000079.4(CHRNA1):c.801C>T (p.Ile267=)
|
rs1397059147
|
0.00003
|
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)
|
rs373005571
|
0.00003
|
NM_000751.3(CHRND):c.353+14C>G
|
rs765810417
|
0.00003
|
NM_000751.3(CHRND):c.882C>T (p.Leu294=)
|
rs1178183798
|
0.00003
|
NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=)
|
rs779379425
|
0.00002
|
NM_000079.4(CHRNA1):c.895C>T (p.Leu299=)
|
rs768256648
|
0.00002
|
NM_000079.4(CHRNA1):c.942C>T (p.Ile314=)
|
rs200535960
|
0.00002
|
NM_000751.3(CHRND):c.1047+16G>A
|
rs1287834322
|
0.00002
|
NM_000751.3(CHRND):c.1047+19G>A
|
rs749274268
|
0.00002
|
NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln)
|
rs564930869
|
0.00002
|
NM_000751.3(CHRND):c.1371+10C>A
|
rs762637499
|
0.00002
|
NM_000751.3(CHRND):c.198+15G>A
|
rs764503079
|
0.00002
|
NM_000751.3(CHRND):c.315G>A (p.Pro105=)
|
rs770730077
|
0.00002
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00002
|
NM_000751.3(CHRND):c.932+16G>A
|
rs759403975
|
0.00002
|
NM_000079.4(CHRNA1):c.1002+17C>G
|
rs777724002
|
0.00001
|
NM_000079.4(CHRNA1):c.1003-9T>C
|
rs769523120
|
0.00001
|
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=)
|
rs767048858
|
0.00001
|
NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=)
|
rs1553541913
|
0.00001
|
NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=)
|
rs761249168
|
0.00001
|
NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=)
|
rs137852808
|
0.00001
|
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)
|
rs771587252
|
0.00001
|
NM_000079.4(CHRNA1):c.270T>C (p.Asp90=)
|
rs746590795
|
0.00001
|
NM_000079.4(CHRNA1):c.327C>T (p.Asp109=)
|
rs1684006081
|
0.00001
|
NM_000079.4(CHRNA1):c.330T>C (p.Leu110=)
|
rs763984762
|
0.00001
|
NM_000079.4(CHRNA1):c.344+12G>C
|
rs774924187
|
0.00001
|
NM_000079.4(CHRNA1):c.345-14T>A
|
rs776569258
|
0.00001
|
NM_000079.4(CHRNA1):c.453C>T (p.Ile151=)
|
rs372122272
|
0.00001
|
NM_000079.4(CHRNA1):c.51C>T (p.Leu17=)
|
rs751402231
|
0.00001
|
NM_000079.4(CHRNA1):c.579C>T (p.Ser193=)
|
rs534185815
|
0.00001
|
NM_000079.4(CHRNA1):c.642C>T (p.Pro214=)
|
rs757027133
|
0.00001
|
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
|
rs137852798
|
0.00001
|
NM_000079.4(CHRNA1):c.735C>T (p.Phe245=)
|
rs773397465
|
0.00001
|
NM_000079.4(CHRNA1):c.778+18G>A
|
rs375471139
|
0.00001
|
NM_000079.4(CHRNA1):c.840C>T (p.Ile280=)
|
rs754070026
|
0.00001
|
NM_000079.4(CHRNA1):c.924C>T (p.Ser308=)
|
rs1175922060
|
0.00001
|
NM_000751.3(CHRND):c.1122G>A (p.Leu374=)
|
rs1438844656
|
0.00001
|
NM_000751.3(CHRND):c.1143G>C (p.Leu381=)
|
rs1464265235
|
0.00001
|
NM_000751.3(CHRND):c.129G>A (p.Arg43=)
|
rs765106484
|
0.00001
|
NM_000751.3(CHRND):c.132C>G (p.Pro44=)
|
rs774771779
|
0.00001
|
NM_000751.3(CHRND):c.132C>T (p.Pro44=)
|
rs774771779
|
0.00001
|
NM_000751.3(CHRND):c.1434G>A (p.Thr478=)
|
rs554876874
|
0.00001
|
NM_000751.3(CHRND):c.1452C>A (p.Gly484=)
|
rs1221932092
|
0.00001
|
NM_000751.3(CHRND):c.1497C>G (p.Pro499=)
|
rs772552126
|
0.00001
|
NM_000751.3(CHRND):c.1527C>T (p.Tyr509=)
|
rs572853269
|
0.00001
|
NM_000751.3(CHRND):c.159C>T (p.Asp53=)
|
rs370725931
|
0.00001
|
NM_000751.3(CHRND):c.199-12G>A
|
rs937840228
|
0.00001
|
NM_000751.3(CHRND):c.264G>C (p.Leu88=)
|
rs1029592483
|
0.00001
|
NM_000751.3(CHRND):c.375C>T (p.Ile125=)
|
rs756324982
|
0.00001
|
NM_000751.3(CHRND):c.435C>T (p.Ala145=)
|
rs1691569899
|
0.00001
|
NM_000751.3(CHRND):c.447C>T (p.Ser149=)
|
rs371097455
|
0.00001
|
NM_000751.3(CHRND):c.510-16C>A
|
rs1038117512
|
0.00001
|
NM_000751.3(CHRND):c.606T>C (p.Pro202=)
|
rs762417696
|
0.00001
|
NM_000751.3(CHRND):c.624C>T (p.Asn208=)
|
rs1473541483
|
0.00001
|
NM_000751.3(CHRND):c.70G>A (p.Glu24Lys)
|
rs144310284
|
0.00001
|
NM_000751.3(CHRND):c.84G>A (p.Leu28=)
|
rs1323332117
|
0.00001
|
NM_000751.3(CHRND):c.932+9C>T
|
rs367837942
|
0.00001
|
NM_000751.3(CHRND):c.945C>T (p.Phe315=)
|
rs777931139
|
0.00001
|
NM_000751.3(CHRND):c.984C>G (p.Val328=)
|
rs763965619
|
0.00001
|
NM_000079.4(CHRNA1):c.*422G>T
|
rs184095877
|
|
NM_000079.4(CHRNA1):c.1002+10G>C
|
|
|
NM_000079.4(CHRNA1):c.1002+14C>G
|
|
|
NM_000079.4(CHRNA1):c.1002+14C>T
|
|
|
NM_000079.4(CHRNA1):c.1003-12T>A
|
rs771405347
|
|
NM_000079.4(CHRNA1):c.1003-12_1003-8del
|
rs1251304590
|
|
NM_000079.4(CHRNA1):c.1003-6T>C
|
|
|
NM_000079.4(CHRNA1):c.1003-8T>C
|
rs1683789605
|
|
NM_000079.4(CHRNA1):c.1003-9T>A
|
rs769523120
|
|
NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)
|
|
|
NM_000079.4(CHRNA1):c.1071A>G (p.Gln357=)
|
|
|
NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=)
|
|
|
NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)
|
|
|
NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=)
|
rs141280544
|
|
NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)
|
|
|
NM_000079.4(CHRNA1):c.118C>A (p.Arg40=)
|
rs774423842
|
|
NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=)
|
rs1683784412
|
|
NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)
|
|
|
NM_000079.4(CHRNA1):c.1206C>T (p.Ile402=)
|
|
|
NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)
|
|
|
NM_000079.4(CHRNA1):c.1242+11T>A
|
|
|
NM_000079.4(CHRNA1):c.1242+17G>A
|
|
|
NM_000079.4(CHRNA1):c.1243-7C>T
|
|
|
NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=)
|
|
|
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)
|
rs17838545
|
|
NM_000079.4(CHRNA1):c.1248G>T (p.Ala416=)
|
|
|
NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=)
|
|
|
NM_000079.4(CHRNA1):c.1284C>T (p.His428=)
|
rs1173467478
|
|
NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)
|
|
|
NM_000079.4(CHRNA1):c.189+7_189+8insCCT
|
rs1348568801
|
|
NM_000079.4(CHRNA1):c.18C>T (p.Leu6=)
|
|
|
NM_000079.4(CHRNA1):c.190-12T>A
|
|
|
NM_000079.4(CHRNA1):c.235-14G>A
|
|
|
NM_000079.4(CHRNA1):c.235-19T>C
|
rs1287601157
|
|
NM_000079.4(CHRNA1):c.235-20C>T
|
|
|
NM_000079.4(CHRNA1):c.235-8G>T
|
|
|
NM_000079.4(CHRNA1):c.235-9dup
|
rs1558913982
|
|
NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)
|
|
|
NM_000079.4(CHRNA1):c.279C>T (p.Gly93=)
|
rs771749641
|
|
NM_000079.4(CHRNA1):c.303T>C (p.Pro101=)
|
rs2105350637
|
|
NM_000079.4(CHRNA1):c.344+14A>G
|
rs1458805086
|
|
NM_000079.4(CHRNA1):c.344+15T>C
|
|
|
NM_000079.4(CHRNA1):c.344+17G>C
|
|
|
NM_000079.4(CHRNA1):c.345-19T>A
|
rs572077048
|
|
NM_000079.4(CHRNA1):c.345-7del
|
|
|
NM_000079.4(CHRNA1):c.387C>T (p.Leu129=)
|
|
|
NM_000079.4(CHRNA1):c.399T>A (p.Thr133=)
|
rs1443518305
|
|
NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)
|
|
|
NM_000079.4(CHRNA1):c.43+11G>A
|
|
|
NM_000079.4(CHRNA1):c.43+20G>T
|
|
|
NM_000079.4(CHRNA1):c.44-10G>T
|
rs2105352253
|
|
NM_000079.4(CHRNA1):c.44-9C>A
|
rs2105352249
|
|
NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)
|
|
|
NM_000079.4(CHRNA1):c.510C>G (p.Thr170=)
|
|
|
NM_000079.4(CHRNA1):c.516C>T (p.Asp172=)
|
|
|
NM_000079.4(CHRNA1):c.540+16A>C
|
|
|
NM_000079.4(CHRNA1):c.540+17T>A
|
|
|
NM_000079.4(CHRNA1):c.541-12T>C
|
rs1193318305
|
|
NM_000079.4(CHRNA1):c.541-13C>T
|
|
|
NM_000079.4(CHRNA1):c.541-17del
|
|
|
NM_000079.4(CHRNA1):c.561G>A (p.Leu187=)
|
|
|
NM_000079.4(CHRNA1):c.561G>C (p.Leu187=)
|
|
|
NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)
|
|
|
NM_000079.4(CHRNA1):c.591G>A (p.Val197=)
|
|
|
NM_000079.4(CHRNA1):c.600G>A (p.Glu200=)
|
rs2105347898
|
|
NM_000079.4(CHRNA1):c.639C>T (p.Cys213=)
|
rs1574006599
|
|
NM_000079.4(CHRNA1):c.648C>G (p.Thr216=)
|
rs759534966
|
|
NM_000079.4(CHRNA1):c.648C>T (p.Thr216=)
|
rs759534966
|
|
NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)
|
|
|
NM_000079.4(CHRNA1):c.672C>T (p.His224=)
|
rs1574006465
|
|
NM_000079.4(CHRNA1):c.708C>T (p.Val236=)
|
|
|
NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)
|
|
|
NM_000079.4(CHRNA1):c.75C>T (p.Thr25=)
|
|
|
NM_000079.4(CHRNA1):c.795G>A (p.Leu265=)
|
|
|
NM_000079.4(CHRNA1):c.813G>C (p.Leu271=)
|
rs374093236
|
|
NM_000079.4(CHRNA1):c.828C>T (p.Phe276=)
|
rs1683818752
|
|
NM_000079.4(CHRNA1):c.876C>A (p.Pro292=)
|
|
|
NM_000079.4(CHRNA1):c.954A>C (p.Thr318=)
|
|
|
NM_000751.3(CHRND):c.1026G>A (p.Val342=)
|
rs1574634359
|
|
NM_000751.3(CHRND):c.1047+10T>C
|
rs2106211747
|
|
NM_000751.3(CHRND):c.1047+15C>T
|
|
|
NM_000751.3(CHRND):c.1047+17G>A
|
rs997482710
|
|
NM_000751.3(CHRND):c.1047+20C>T
|
|
|
NM_000751.3(CHRND):c.1048-12A>G
|
|
|
NM_000751.3(CHRND):c.1056G>T (p.Leu352=)
|
|
|
NM_000751.3(CHRND):c.1068G>A (p.Pro356=)
|
|
|
NM_000751.3(CHRND):c.108G>A (p.Lys36=)
|
rs2106206094
|
|
NM_000751.3(CHRND):c.1122G>T (p.Leu374=)
|
rs1438844656
|
|
NM_000751.3(CHRND):c.1155C>T (p.Ser385=)
|
rs2106214377
|
|
NM_000751.3(CHRND):c.1161C>G (p.Ala387=)
|
rs376017740
|
|
NM_000751.3(CHRND):c.1161C>T (p.Ala387=)
|
rs376017740
|
|
NM_000751.3(CHRND):c.1197C>A (p.Leu399=)
|
rs2106214422
|
|
NM_000751.3(CHRND):c.1203C>T (p.Phe401=)
|
rs138405676
|
|
NM_000751.3(CHRND):c.1233C>T (p.Ala411=)
|
rs1553575402
|
|
NM_000751.3(CHRND):c.1252+16T>A
|
|
|
NM_000751.3(CHRND):c.1252+9C>A
|
|
|
NM_000751.3(CHRND):c.1253-11C>A
|
|
|
NM_000751.3(CHRND):c.1253-11C>G
|
|
|
NM_000751.3(CHRND):c.1253-13C>A
|
|
|
NM_000751.3(CHRND):c.1305G>A (p.Leu435=)
|
|
|
NM_000751.3(CHRND):c.1371+17T>C
|
|
|
NM_000751.3(CHRND):c.1407G>A (p.Val469=)
|
|
|
NM_000751.3(CHRND):c.1413C>G (p.Arg471=)
|
rs766187603
|
|
NM_000751.3(CHRND):c.1422G>A (p.Leu474=)
|
|
|
NM_000751.3(CHRND):c.1428G>A (p.Val476=)
|
|
|
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)
|
rs756537437
|
|
NM_000751.3(CHRND):c.1482C>T (p.Tyr494=)
|
|
|
NM_000751.3(CHRND):c.1494A>G (p.Pro498=)
|
|
|
NM_000751.3(CHRND):c.174C>A (p.Leu58=)
|
|
|
NM_000751.3(CHRND):c.180C>T (p.Leu60=)
|
|
|
NM_000751.3(CHRND):c.198+12_198+13insA
|
|
|
NM_000751.3(CHRND):c.198+13C>G
|
|
|
NM_000751.3(CHRND):c.199-13C>T
|
|
|
NM_000751.3(CHRND):c.199-8A>G
|
rs2106207309
|
|
NM_000751.3(CHRND):c.231G>A (p.Val77=)
|
|
|
NM_000751.3(CHRND):c.243+9G>A
|
rs1015689711
|
|
NM_000751.3(CHRND):c.244-18A>T
|
|
|
NM_000751.3(CHRND):c.27G>C (p.Gly9=)
|
rs554645326
|
|
NM_000751.3(CHRND):c.27G>T (p.Gly9=)
|
rs554645326
|
|
NM_000751.3(CHRND):c.312C>G (p.Pro104=)
|
|
|
NM_000751.3(CHRND):c.31C>T (p.Leu11=)
|
rs1235166420
|
|
NM_000751.3(CHRND):c.336G>A (p.Glu112=)
|
|
|
NM_000751.3(CHRND):c.378C>T (p.Ser126=)
|
|
|
NM_000751.3(CHRND):c.42G>C (p.Leu14=)
|
rs746207666
|
|
NM_000751.3(CHRND):c.468C>G (p.Thr156=)
|
|
|
NM_000751.3(CHRND):c.509+11T>C
|
|
|
NM_000751.3(CHRND):c.509+18G>A
|
|
|
NM_000751.3(CHRND):c.510-16C>G
|
|
|
NM_000751.3(CHRND):c.510-17C>A
|
|
|
NM_000751.3(CHRND):c.513C>T (p.Ser171=)
|
rs2106208903
|
|
NM_000751.3(CHRND):c.52+15C>A
|
|
|
NM_000751.3(CHRND):c.52+18C>A
|
|
|
NM_000751.3(CHRND):c.52+18C>G
|
|
|
NM_000751.3(CHRND):c.528C>T (p.Ala176=)
|
|
|
NM_000751.3(CHRND):c.53-15G>A
|
|
|
NM_000751.3(CHRND):c.543G>T (p.Leu181=)
|
|
|
NM_000751.3(CHRND):c.549G>A (p.Leu183=)
|
|
|
NM_000751.3(CHRND):c.582C>G (p.Pro194=)
|
rs773089899
|
|
NM_000751.3(CHRND):c.619+10del
|
rs2106209037
|
|
NM_000751.3(CHRND):c.619+15C>T
|
|
|
NM_000751.3(CHRND):c.619+16G>A
|
|
|
NM_000751.3(CHRND):c.619+16G>C
|
|
|
NM_000751.3(CHRND):c.619+16G>T
|
rs753490642
|
|
NM_000751.3(CHRND):c.663C>T (p.Asn221=)
|
|
|
NM_000751.3(CHRND):c.720C>A (p.Leu240=)
|
rs935801687
|
|
NM_000751.3(CHRND):c.726C>T (p.Ile242=)
|
rs1335079963
|
|
NM_000751.3(CHRND):c.738C>G (p.Pro246=)
|
|
|
NM_000751.3(CHRND):c.820+13G>A
|
rs763880179
|
|
NM_000751.3(CHRND):c.820+13G>T
|
|
|
NM_000751.3(CHRND):c.820+17C>G
|
|
|
NM_000751.3(CHRND):c.820+17C>T
|
|
|
NM_000751.3(CHRND):c.821-19C>T
|
|
|
NM_000751.3(CHRND):c.821-5C>A
|
|
|
NM_000751.3(CHRND):c.888C>T (p.Ser296=)
|
rs2106211370
|
|
NM_000751.3(CHRND):c.921C>T (p.Pro307=)
|
rs1691694178
|
|
NM_000751.3(CHRND):c.932+17C>A
|
|
|
NM_000751.3(CHRND):c.933-19G>A
|
|
|
NM_000751.3(CHRND):c.933-6C>G
|
|
|
NM_000751.3(CHRND):c.933-7C>T
|
|
|
NM_000751.3(CHRND):c.954G>C (p.Val318=)
|
|
|
NM_000751.3(CHRND):c.96G>T (p.Leu32=)
|
rs1574627606
|
|
NM_000751.3(CHRND):c.987C>T (p.Ile329=)
|
|
|
NM_000751.3(CHRND):c.993C>T (p.Leu331=)
|
|
|