NM_000751.3(CHRND):c.12A>G (p.Pro4=)
|
rs2245601
|
0.45730
|
NM_000751.3(CHRND):c.1047+9T>C
|
rs3762528
|
0.07349
|
NM_000751.3(CHRND):c.*424C>T
|
rs4973046
|
0.06579
|
NM_000751.3(CHRND):c.120G>A (p.Lys40=)
|
rs55921262
|
0.03225
|
NM_000751.3(CHRND):c.*1025A>G
|
rs115132742
|
0.02647
|
NM_000751.3(CHRND):c.*149A>G
|
rs114315112
|
0.01306
|
NM_000751.3(CHRND):c.243C>T (p.His81=)
|
rs115841867
|
0.00919
|
NM_000751.3(CHRND):c.932+20G>A
|
rs114022008
|
0.00793
|
NM_000751.3(CHRND):c.1253-8G>A
|
rs144545619
|
0.00548
|
NM_000751.3(CHRND):c.*1240T>C
|
rs77032539
|
0.00369
|
NM_000751.3(CHRND):c.1371+7G>T
|
rs188395796
|
0.00350
|
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser)
|
rs2229194
|
0.00305
|
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys)
|
rs77084550
|
0.00300
|
NM_000751.3(CHRND):c.414C>T (p.Phe138=)
|
rs150208750
|
0.00265
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_000751.3(CHRND):c.*145C>G
|
rs530039427
|
0.00216
|
NM_000751.3(CHRND):c.*942C>T
|
rs571263995
|
0.00210
|
NM_000751.3(CHRND):c.1530C>T (p.Asn510=)
|
rs114463490
|
0.00175
|
NM_000751.3(CHRND):c.*1189G>C
|
rs556909638
|
0.00136
|
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_000751.3(CHRND):c.1253-9C>T
|
rs2853458
|
0.00057
|
NM_000751.3(CHRND):c.*290G>A
|
rs535927511
|
0.00051
|
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.727C>T (p.Arg243Cys)
|
rs201733876
|
0.00042
|
NM_000751.3(CHRND):c.1416C>T (p.Leu472=)
|
rs145857136
|
0.00041
|
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.1066C>T (p.Pro356Ser)
|
rs147050939
|
0.00035
|
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser)
|
rs139190636
|
0.00035
|
NM_000751.3(CHRND):c.*580C>T
|
rs371903548
|
0.00034
|
NM_000751.3(CHRND):c.*676G>A
|
rs183259359
|
0.00032
|
NM_000751.3(CHRND):c.619+4C>A
|
rs367936158
|
0.00032
|
NM_000751.3(CHRND):c.933-9T>C
|
rs199592458
|
0.00031
|
NM_000751.3(CHRND):c.1067C>T (p.Pro356Leu)
|
rs200671975
|
0.00030
|
NM_000751.3(CHRND):c.*641C>T
|
rs190008760
|
0.00029
|
NM_000751.3(CHRND):c.*1313G>A
|
rs554703726
|
0.00026
|
NM_000751.3(CHRND):c.*1314A>T
|
rs574569801
|
0.00026
|
NM_000751.3(CHRND):c.651G>A (p.Pro217=)
|
rs146205427
|
0.00026
|
NM_000751.3(CHRND):c.805T>C (p.Tyr269His)
|
rs141627135
|
0.00025
|
NM_000751.3(CHRND):c.*379C>T
|
rs552885486
|
0.00024
|
NM_000751.3(CHRND):c.45G>A (p.Ala15=)
|
rs138609765
|
0.00020
|
NM_000751.3(CHRND):c.932+10G>A
|
rs370309294
|
0.00020
|
NM_000751.3(CHRND):c.728G>A (p.Arg243His)
|
rs148869069
|
0.00019
|
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_000751.3(CHRND):c.821-2A>C
|
rs762875734
|
0.00014
|
NM_000751.3(CHRND):c.89G>A (p.Arg30Gln)
|
rs142992853
|
0.00014
|
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)
|
rs368695808
|
0.00013
|
NM_000751.3(CHRND):c.199-19C>T
|
rs145984749
|
0.00013
|
NM_000751.3(CHRND):c.305G>A (p.Arg102His)
|
rs147919651
|
0.00013
|
NM_000751.3(CHRND):c.*908A>G
|
rs547787086
|
0.00012
|
NM_000751.3(CHRND):c.626G>A (p.Gly209Glu)
|
rs754652646
|
0.00012
|
NM_000751.3(CHRND):c.620-7C>T
|
rs532055784
|
0.00011
|
NM_000751.3(CHRND):c.1048-7G>T
|
rs369026633
|
0.00010
|
NM_000751.3(CHRND):c.1125G>A (p.Val375=)
|
rs143246852
|
0.00010
|
NM_000751.3(CHRND):c.128G>A (p.Arg43Gln)
|
rs759448201
|
0.00010
|
NM_000751.3(CHRND):c.*635C>T
|
rs747270172
|
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.525G>A (p.Thr175=)
|
rs56203086
|
0.00009
|
NM_000751.3(CHRND):c.705C>T (p.Asp235=)
|
rs145634347
|
0.00009
|
NM_000751.3(CHRND):c.1531G>A (p.Val511Met)
|
rs759384601
|
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_000751.3(CHRND):c.1126C>T (p.Arg376Trp)
|
rs368819172
|
0.00007
|
NM_000751.3(CHRND):c.620-8G>A
|
rs377074477
|
0.00007
|
NM_000751.3(CHRND):c.892C>T (p.Arg298Cys)
|
rs377455260
|
0.00007
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
NM_000751.3(CHRND):c.1359C>T (p.Asn453=)
|
rs776972228
|
0.00006
|
NM_000751.3(CHRND):c.1476C>T (p.Gly492=)
|
rs748744922
|
0.00006
|
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile)
|
rs567130034
|
0.00006
|
NM_000751.3(CHRND):c.255C>A (p.Asp85Glu)
|
rs146905561
|
0.00006
|
NM_000751.3(CHRND):c.415G>A (p.Val139Met)
|
rs147452877
|
0.00006
|
NM_000751.3(CHRND):c.697C>T (p.Arg233Cys)
|
rs144063384
|
0.00006
|
NM_000751.3(CHRND):c.80G>A (p.Arg27Gln)
|
rs143002322
|
0.00006
|
NM_000751.3(CHRND):c.*1278C>T
|
rs983960063
|
0.00005
|
NM_000751.3(CHRND):c.225C>G (p.Thr75=)
|
rs146508326
|
0.00005
|
NM_000751.3(CHRND):c.260G>A (p.Arg87Gln)
|
rs201264983
|
0.00005
|
NM_000751.3(CHRND):c.442C>T (p.Arg148Cys)
|
rs199984639
|
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_000751.3(CHRND):c.1204G>A (p.Glu402Lys)
|
rs145955590
|
0.00004
|
NM_000751.3(CHRND):c.1252+10C>T
|
rs373581541
|
0.00004
|
NM_000751.3(CHRND):c.1252+1G>A
|
rs1285705072
|
0.00004
|
NM_000751.3(CHRND):c.1253-10T>G
|
rs199508773
|
0.00004
|
NM_000751.3(CHRND):c.1319A>T (p.Asp440Val)
|
rs373747090
|
0.00004
|
NM_000751.3(CHRND):c.1442T>C (p.Met481Thr)
|
rs777430398
|
0.00004
|
NM_000751.3(CHRND):c.160G>A (p.Val54Ile)
|
rs369869476
|
0.00004
|
NM_000751.3(CHRND):c.226A>G (p.Asn76Asp)
|
rs200755491
|
0.00004
|
NM_000751.3(CHRND):c.390C>T (p.Asn130=)
|
rs55700159
|
0.00004
|
NM_000751.3(CHRND):c.611G>T (p.Gly204Val)
|
rs531000772
|
0.00004
|
NM_000751.3(CHRND):c.620-9C>T
|
rs112019415
|
0.00004
|
NM_000751.3(CHRND):c.920C>T (p.Pro307Leu)
|
rs371376389
|
0.00004
|
NM_000751.3(CHRND):c.988G>A (p.Val330Met)
|
rs773972915
|
0.00004
|
NM_000751.3(CHRND):c.*1032C>T
|
rs886055786
|
0.00003
|
NM_000751.3(CHRND):c.*227G>A
|
rs766592644
|
0.00003
|
NM_000751.3(CHRND):c.1100A>G (p.Asp367Gly)
|
rs770099656
|
0.00003
|
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)
|
rs563035306
|
0.00003
|
NM_000751.3(CHRND):c.1255C>T (p.Arg419Trp)
|
rs140455307
|
0.00003
|
NM_000751.3(CHRND):c.178C>A (p.Leu60Ile)
|
rs200743096
|
0.00003
|
NM_000751.3(CHRND):c.353+14C>G
|
rs765810417
|
0.00003
|
NM_000751.3(CHRND):c.646C>T (p.Arg216Trp)
|
rs777271963
|
0.00003
|
NM_000751.3(CHRND):c.730C>T (p.Arg244Cys)
|
rs376642208
|
0.00003
|
NM_000751.3(CHRND):c.882C>T (p.Leu294=)
|
rs1178183798
|
0.00003
|
NM_000751.3(CHRND):c.*342C>T
|
rs1243263595
|
0.00002
|
NM_000751.3(CHRND):c.*453T>C
|
rs575492169
|
0.00002
|
NM_000751.3(CHRND):c.*969G>A
|
rs1479082913
|
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.1195C>T (p.Leu399Phe)
|
rs768633138
|
0.00002
|
NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln)
|
rs564930869
|
0.00002
|
NM_000751.3(CHRND):c.127C>T (p.Arg43Trp)
|
rs55868108
|
0.00002
|
NM_000751.3(CHRND):c.1371+10C>A
|
rs762637499
|
0.00002
|
NM_000751.3(CHRND):c.1372G>A (p.Glu458Lys)
|
rs140982683
|
0.00002
|
NM_000751.3(CHRND):c.1390C>T (p.Arg464Ter)
|
rs121909507
|
0.00002
|
NM_000751.3(CHRND):c.1411C>T (p.Arg471Cys)
|
rs533115724
|
0.00002
|
NM_000751.3(CHRND):c.1417dup (p.Cys473fs)
|
rs1468893310
|
0.00002
|
NM_000751.3(CHRND):c.1552T>G (p.Ter518Glu)
|
rs756238142
|
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.463G>A (p.Val155Ile)
|
rs767201456
|
0.00002
|
NM_000751.3(CHRND):c.698G>A (p.Arg233His)
|
rs146416320
|
0.00002
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00002
|
NM_000751.3(CHRND):c.928G>A (p.Gly310Ser)
|
rs771670415
|
0.00002
|
NM_000751.3(CHRND):c.932+16G>A
|
rs759403975
|
0.00002
|
NM_000751.3(CHRND):c.*196G>A
|
rs886055783
|
0.00001
|
NM_000751.3(CHRND):c.*505C>G
|
rs1305242921
|
0.00001
|
NM_000751.3(CHRND):c.*598G>C
|
rs774235883
|
0.00001
|
NM_000751.3(CHRND):c.*92C>T
|
rs561266227
|
0.00001
|
NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln)
|
rs375623674
|
0.00001
|
NM_000751.3(CHRND):c.1084T>A (p.Ser362Thr)
|
rs778769803
|
0.00001
|
NM_000751.3(CHRND):c.1088G>A (p.Arg363His)
|
rs748108743
|
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.1199T>C (p.Met400Thr)
|
rs774443865
|
0.00001
|
NM_000751.3(CHRND):c.1200G>C (p.Met400Ile)
|
rs1691804529
|
0.00001
|
NM_000751.3(CHRND):c.1235G>A (p.Arg412Lys)
|
rs1011570439
|
0.00001
|
NM_000751.3(CHRND):c.1237C>T (p.Arg413Cys)
|
rs1242056715
|
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.1330T>C (p.Phe444Leu)
|
rs772140028
|
0.00001
|
NM_000751.3(CHRND):c.1334T>C (p.Ile445Thr)
|
rs573680102
|
0.00001
|
NM_000751.3(CHRND):c.136G>A (p.Ala46Thr)
|
rs1085307559
|
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.145G>A (p.Glu49Lys)
|
rs767640700
|
0.00001
|
NM_000751.3(CHRND):c.1462A>G (p.Ile488Val)
|
rs1317082231
|
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.1544G>A (p.Arg515His)
|
rs570911554
|
0.00001
|
NM_000751.3(CHRND):c.155T>A (p.Val52Glu)
|
rs1260266473
|
0.00001
|
NM_000751.3(CHRND):c.159C>T (p.Asp53=)
|
rs370725931
|
0.00001
|
NM_000751.3(CHRND):c.172C>T (p.Leu58Phe)
|
rs752410720
|
0.00001
|
NM_000751.3(CHRND):c.199-12G>A
|
rs937840228
|
0.00001
|
NM_000751.3(CHRND):c.234G>A (p.Trp78Ter)
|
rs121909505
|
0.00001
|
NM_000751.3(CHRND):c.236T>A (p.Ile79Lys)
|
rs121909509
|
0.00001
|
NM_000751.3(CHRND):c.243+1G>A
|
rs751237539
|
0.00001
|
NM_000751.3(CHRND):c.244G>A (p.Gly82Ser)
|
rs794727630
|
0.00001
|
NM_000751.3(CHRND):c.264G>C (p.Leu88=)
|
rs1029592483
|
0.00001
|
NM_000751.3(CHRND):c.283T>C (p.Phe95Leu)
|
rs121909506
|
0.00001
|
NM_000751.3(CHRND):c.314C>T (p.Pro105Leu)
|
rs769160054
|
0.00001
|
NM_000751.3(CHRND):c.375C>T (p.Ile125=)
|
rs756324982
|
0.00001
|
NM_000751.3(CHRND):c.380A>G (p.Tyr127Cys)
|
rs1231032358
|
0.00001
|
NM_000751.3(CHRND):c.435C>T (p.Ala145=)
|
rs1691569899
|
0.00001
|
NM_000751.3(CHRND):c.446C>T (p.Ser149Phe)
|
rs762904291
|
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.52+7G>A
|
rs1388167579
|
0.00001
|
NM_000751.3(CHRND):c.524C>T (p.Thr175Met)
|
rs752113659
|
0.00001
|
NM_000751.3(CHRND):c.571C>T (p.Arg191Cys)
|
rs778217557
|
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.647G>A (p.Arg216Gln)
|
rs746959201
|
0.00001
|
NM_000751.3(CHRND):c.662A>G (p.Asn221Ser)
|
rs774497252
|
0.00001
|
NM_000751.3(CHRND):c.70G>A (p.Glu24Lys)
|
rs144310284
|
0.00001
|
NM_000751.3(CHRND):c.723C>G (p.Ile241Met)
|
rs1416558563
|
0.00001
|
NM_000751.3(CHRND):c.769T>C (p.Cys257Arg)
|
rs776218605
|
0.00001
|
NM_000751.3(CHRND):c.823G>A (p.Gly275Ser)
|
rs373187583
|
0.00001
|
NM_000751.3(CHRND):c.84G>A (p.Leu28=)
|
rs1323332117
|
0.00001
|
NM_000751.3(CHRND):c.88C>T (p.Arg30Trp)
|
rs1047325384
|
0.00001
|
NM_000751.3(CHRND):c.890A>G (p.Lys297Arg)
|
rs187055404
|
0.00001
|
NM_000751.3(CHRND):c.899C>A (p.Pro300His)
|
rs145981548
|
0.00001
|
NM_000751.3(CHRND):c.932+3G>A
|
rs772540464
|
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.957G>A (p.Leu319=)
|
rs1691699126
|
0.00001
|
NM_000751.3(CHRND):c.984C>G (p.Val328=)
|
rs763965619
|
0.00001
|
NC_000002.11:g.(?_233390926)_(233400022_?)del
|
|
|
NC_000002.11:g.(?_233396141)_(233398358_?)del
|
|
|
NM_000751.3(CHRND):c.*1194C>T
|
rs778967055
|
|
NM_000751.3(CHRND):c.*1232A>C
|
rs1691898332
|
|
NM_000751.3(CHRND):c.*175G>A
|
rs1691855725
|
|
NM_000751.3(CHRND):c.*268G>A
|
rs1206421929
|
|
NM_000751.3(CHRND):c.*449C>T
|
rs886055784
|
|
NM_000751.3(CHRND):c.1010C>A (p.Thr337Lys)
|
|
|
NM_000751.3(CHRND):c.1026G>A (p.Val342=)
|
rs1574634359
|
|
NM_000751.3(CHRND):c.102A>C (p.Gln34His)
|
rs780478522
|
|
NM_000751.3(CHRND):c.1033G>C (p.Glu345Gln)
|
rs758772612
|
|
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.1047+3G>A
|
|
|
NM_000751.3(CHRND):c.1047+5G>T
|
rs780881475
|
|
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.1071G>C (p.Glu357Asp)
|
rs1235160365
|
|
NM_000751.3(CHRND):c.1072C>T (p.Leu358Phe)
|
|
|
NM_000751.3(CHRND):c.107A>G (p.Lys36Arg)
|
|
|
NM_000751.3(CHRND):c.1083G>C (p.Met361Ile)
|
|
|
NM_000751.3(CHRND):c.1085C>G (p.Ser362Cys)
|
rs1054895490
|
|
NM_000751.3(CHRND):c.1088G>C (p.Arg363Pro)
|
|
|
NM_000751.3(CHRND):c.108G>A (p.Lys36=)
|
rs2106206094
|
|
NM_000751.3(CHRND):c.1098G>C (p.Glu366Asp)
|
|
|
NM_000751.3(CHRND):c.1106C>G (p.Pro369Arg)
|
rs1691800096
|
|
NM_000751.3(CHRND):c.1107del (p.Ser370fs)
|
|
|
NM_000751.3(CHRND):c.1122G>T (p.Leu374=)
|
rs1438844656
|
|
NM_000751.3(CHRND):c.1123G>T (p.Val375Leu)
|
|
|
NM_000751.3(CHRND):c.1151T>A (p.Ile384Asn)
|
|
|
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.1167G>T (p.Glu389Asp)
|
|
|
NM_000751.3(CHRND):c.1186C>T (p.Arg396Cys)
|
|
|
NM_000751.3(CHRND):c.1187G>A (p.Arg396His)
|
rs770837281
|
|
NM_000751.3(CHRND):c.118A>G (p.Lys40Glu)
|
rs1475752234
|
|
NM_000751.3(CHRND):c.1197C>A (p.Leu399=)
|
rs2106214422
|
|
NM_000751.3(CHRND):c.1203C>G (p.Phe401Leu)
|
|
|
NM_000751.3(CHRND):c.1203C>T (p.Phe401=)
|
rs138405676
|
|
NM_000751.3(CHRND):c.1218G>T (p.Glu406Asp)
|
|
|
NM_000751.3(CHRND):c.1219C>T (p.Arg407Trp)
|
rs766721840
|
|
NM_000751.3(CHRND):c.1223A>G (p.His408Arg)
|
|
|
NM_000751.3(CHRND):c.1233C>T (p.Ala411=)
|
rs1553575402
|
|
NM_000751.3(CHRND):c.1237C>A (p.Arg413Ser)
|
rs1242056715
|
|
NM_000751.3(CHRND):c.1238G>A (p.Arg413His)
|
|
|
NM_000751.3(CHRND):c.1238G>T (p.Arg413Leu)
|
|
|
NM_000751.3(CHRND):c.1252+16T>A
|
|
|
NM_000751.3(CHRND):c.1252+9C>A
|
|
|
NM_000751.3(CHRND):c.1252C>G (p.Arg418Gly)
|
|
|
NM_000751.3(CHRND):c.1252C>T (p.Arg418Cys)
|
|
|
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.1290A>T (p.Glu430Asp)
|
rs1691812180
|
|
NM_000751.3(CHRND):c.1298A>G (p.Asn433Ser)
|
|
|
NM_000751.3(CHRND):c.1305G>A (p.Leu435=)
|
|
|
NM_000751.3(CHRND):c.1325C>T (p.Ala442Val)
|
|
|
NM_000751.3(CHRND):c.1345_1346del (p.Met449fs)
|
rs1553575435
|
|
NM_000751.3(CHRND):c.1367del (p.Asn456fs)
|
rs775837014
|
|
NM_000751.3(CHRND):c.1371+17T>C
|
|
|
NM_000751.3(CHRND):c.1371+1G>T
|
|
|
NM_000751.3(CHRND):c.1374_1375del (p.Lys459fs)
|
rs1060499782
|
|
NM_000751.3(CHRND):c.1375A>G (p.Lys459Glu)
|
|
|
NM_000751.3(CHRND):c.1391G>A (p.Arg464Gln)
|
rs1574638484
|
|
NM_000751.3(CHRND):c.1399C>T (p.Arg467Cys)
|
|
|
NM_000751.3(CHRND):c.13G>T (p.Val5Leu)
|
|
|
NM_000751.3(CHRND):c.1400G>T (p.Arg467Leu)
|
rs148939701
|
|
NM_000751.3(CHRND):c.1403C>G (p.Thr468Arg)
|
|
|
NM_000751.3(CHRND):c.1403C>T (p.Thr468Ile)
|
rs374459301
|
|
NM_000751.3(CHRND):c.1407G>A (p.Val469=)
|
|
|
NM_000751.3(CHRND):c.140A>T (p.His47Leu)
|
|
|
NM_000751.3(CHRND):c.1411C>G (p.Arg471Gly)
|
rs533115724
|
|
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.1433C>T (p.Thr478Met)
|
|
|
NM_000751.3(CHRND):c.1435C>A (p.Pro479Thr)
|
|
|
NM_000751.3(CHRND):c.1436C>G (p.Pro479Arg)
|
|
|
NM_000751.3(CHRND):c.1442TGG[2] (p.Val483del)
|
|
|
NM_000751.3(CHRND):c.1444G>C (p.Val482Leu)
|
|
|
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)
|
rs756537437
|
|
NM_000751.3(CHRND):c.1473G>T (p.Gln491His)
|
rs886055781
|
|
NM_000751.3(CHRND):c.1480T>A (p.Tyr494Asn)
|
|
|
NM_000751.3(CHRND):c.1482C>T (p.Tyr494=)
|
|
|
NM_000751.3(CHRND):c.1484A>G (p.Asn495Ser)
|
|
|
NM_000751.3(CHRND):c.148G>A (p.Glu50Lys)
|
|
|
NM_000751.3(CHRND):c.1494A>G (p.Pro498=)
|
|
|
NM_000751.3(CHRND):c.1515C>A (p.Asp505Glu)
|
rs2106215790
|
|
NM_000751.3(CHRND):c.1523C>G (p.Ser508Cys)
|
|
|
NM_000751.3(CHRND):c.1528A>G (p.Asn510Asp)
|
|
|
NM_000751.3(CHRND):c.1530C>G (p.Asn510Lys)
|
rs114463490
|
|
NM_000751.3(CHRND):c.1535A>G (p.Gln512Arg)
|
rs2106215821
|
|
NM_000751.3(CHRND):c.1553A>G (p.Ter518Trp)
|
rs1203669806
|
|
NM_000751.3(CHRND):c.1554G>T (p.Ter518Tyr)
|
rs780761579
|
|
NM_000751.3(CHRND):c.158A>G (p.Asp53Gly)
|
|
|
NM_000751.3(CHRND):c.167T>C (p.Leu56Pro)
|
rs1553573832
|
|
NM_000751.3(CHRND):c.170C>T (p.Ala57Val)
|
|
|
NM_000751.3(CHRND):c.174C>A (p.Leu58=)
|
|
|
NM_000751.3(CHRND):c.178C>G (p.Leu60Val)
|
rs200743096
|
|
NM_000751.3(CHRND):c.180C>T (p.Leu60=)
|
|
|
NM_000751.3(CHRND):c.187C>A (p.Leu63Ile)
|
rs2106206284
|
|
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.199-90_199-89insAAGA
|
rs113930536
|
|
NM_000751.3(CHRND):c.211del (p.Glu71fs)
|
|
|
NM_000751.3(CHRND):c.218T>C (p.Leu73Pro)
|
rs1691518594
|
|
NM_000751.3(CHRND):c.231G>A (p.Val77=)
|
|
|
NM_000751.3(CHRND):c.236T>C (p.Ile79Thr)
|
|
|
NM_000751.3(CHRND):c.243+9G>A
|
rs1015689711
|
|
NM_000751.3(CHRND):c.244-18A>T
|
|
|
NM_000751.3(CHRND):c.244-3C>T
|
|
|
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter)
|
rs2106208285
|
|
NM_000751.3(CHRND):c.249del (p.Gly82_Trp83insTer)
|
|
|
NM_000751.3(CHRND):c.259C>T (p.Arg87Trp)
|
|
|
NM_000751.3(CHRND):c.262C>G (p.Leu88Val)
|
rs180971628
|
|
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn)
|
rs545298641
|
|
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.281A>G (p.Glu94Gly)
|
rs1691557368
|
|
NM_000751.3(CHRND):c.292A>G (p.Ile98Val)
|
|
|
NM_000751.3(CHRND):c.298G>C (p.Val100Leu)
|
rs955184518
|
|
NM_000751.3(CHRND):c.29T>C (p.Leu10Pro)
|
|
|
NM_000751.3(CHRND):c.2T>C (p.Met1Thr)
|
rs750174953
|
|
NM_000751.3(CHRND):c.304C>A (p.Arg102Ser)
|
|
|
NM_000751.3(CHRND):c.304C>T (p.Arg102Cys)
|
rs775578238
|
|
NM_000751.3(CHRND):c.312C>G (p.Pro104=)
|
|
|
NM_000751.3(CHRND):c.314C>G (p.Pro105Arg)
|
rs769160054
|
|
NM_000751.3(CHRND):c.316dup (p.Asp106fs)
|
|
|
NM_000751.3(CHRND):c.31C>T (p.Leu11=)
|
rs1235166420
|
|
NM_000751.3(CHRND):c.336G>A (p.Glu112=)
|
|
|
NM_000751.3(CHRND):c.340G>C (p.Val114Leu)
|
|
|
NM_000751.3(CHRND):c.348G>A (p.Glu116=)
|
rs1691560409
|
|
NM_000751.3(CHRND):c.34G>A (p.Ala12Thr)
|
rs1691456942
|
|
NM_000751.3(CHRND):c.361G>A (p.Gly121Ser)
|
rs752699014
|
|
NM_000751.3(CHRND):c.361G>C (p.Gly121Arg)
|
rs752699014
|
|
NM_000751.3(CHRND):c.364T>C (p.Ser122Pro)
|
|
|
NM_000751.3(CHRND):c.369C>G (p.Phe123Leu)
|
|
|
NM_000751.3(CHRND):c.36del (p.Ala13fs)
|
|
|
NM_000751.3(CHRND):c.378C>T (p.Ser126=)
|
|
|
NM_000751.3(CHRND):c.385T>C (p.Cys129Arg)
|
|
|
NM_000751.3(CHRND):c.389A>G (p.Asn130Ser)
|
rs1553574327
|
|
NM_000751.3(CHRND):c.389A>T (p.Asn130Ile)
|
rs1553574327
|
|
NM_000751.3(CHRND):c.391G>A (p.Val131Met)
|
rs755141289
|
|
NM_000751.3(CHRND):c.391G>C (p.Val131Leu)
|
|
|
NM_000751.3(CHRND):c.409G>A (p.Gly137Ser)
|
|
|
NM_000751.3(CHRND):c.41T>G (p.Leu14Arg)
|
|
|
NM_000751.3(CHRND):c.423G>C (p.Trp141Cys)
|
|
|
NM_000751.3(CHRND):c.42G>C (p.Leu14=)
|
rs746207666
|
|
NM_000751.3(CHRND):c.440T>C (p.Phe147Ser)
|
|
|
NM_000751.3(CHRND):c.443G>A (p.Arg148His)
|
|
|
NM_000751.3(CHRND):c.449C>G (p.Ser150Cys)
|
rs1441233980
|
|
NM_000751.3(CHRND):c.461C>T (p.Ser154Phe)
|
rs2106208649
|
|
NM_000751.3(CHRND):c.468C>G (p.Thr156=)
|
|
|
NM_000751.3(CHRND):c.481G>A (p.Asp161Asn)
|
|
|
NM_000751.3(CHRND):c.492C>G (p.Asn164Lys)
|
|
|
NM_000751.3(CHRND):c.494G>T (p.Cys165Phe)
|
rs1258523257
|
|
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.52+6G>A
|
rs1301307735
|
|
NM_000751.3(CHRND):c.520T>C (p.Tyr174His)
|
|
|
NM_000751.3(CHRND):c.521_524dup (p.Ala176fs)
|
rs1574630951
|
|
NM_000751.3(CHRND):c.528C>T (p.Ala176=)
|
|
|
NM_000751.3(CHRND):c.529A>G (p.Lys177Glu)
|
rs1691581371
|
|
NM_000751.3(CHRND):c.53-15G>A
|
|
|
NM_000751.3(CHRND):c.536T>C (p.Ile179Thr)
|
|
|
NM_000751.3(CHRND):c.543G>T (p.Leu181=)
|
|
|
NM_000751.3(CHRND):c.549G>A (p.Leu183=)
|
|
|
NM_000751.3(CHRND):c.570C>G (p.Asn190Lys)
|
rs768218659
|
|
NM_000751.3(CHRND):c.571C>G (p.Arg191Gly)
|
|
|
NM_000751.3(CHRND):c.572G>A (p.Arg191His)
|
|
|
NM_000751.3(CHRND):c.582C>G (p.Pro194=)
|
rs773089899
|
|
NM_000751.3(CHRND):c.59G>A (p.Trp20Ter)
|
|
|
NM_000751.3(CHRND):c.601G>A (p.Asp201Asn)
|
rs1691584182
|
|
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.620-3C>G
|
rs1691619642
|
|
NM_000751.3(CHRND):c.620-3C>T
|
|
|
NM_000751.3(CHRND):c.625G>A (p.Gly209Arg)
|
rs766740341
|
|
NM_000751.3(CHRND):c.628G>T (p.Glu210Ter)
|
|
|
NM_000751.3(CHRND):c.641T>C (p.Val214Ala)
|
rs1691620619
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NM_000751.3(CHRND):c.650C>T (p.Pro217Leu)
|
rs149439815
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NM_000751.3(CHRND):c.658G>A (p.Val220Ile)
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NM_000751.3(CHRND):c.663C>T (p.Asn221=)
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NM_000751.3(CHRND):c.664G>A (p.Val222Met)
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NM_000751.3(CHRND):c.677_766delinsGGGT (p.Ala226fs)
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NM_000751.3(CHRND):c.68A>T (p.Asn23Ile)
|
rs1691474796
|
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NM_000751.3(CHRND):c.691C>T (p.Pro231Ser)
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NM_000751.3(CHRND):c.709A>T (p.Thr237Ser)
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NM_000751.3(CHRND):c.710C>T (p.Thr237Ile)
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|
|
NM_000751.3(CHRND):c.713_715del (p.Phe238del)
|
rs2106210087
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NM_000751.3(CHRND):c.718C>T (p.Leu240Phe)
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|
NM_000751.3(CHRND):c.720C>A (p.Leu240=)
|
rs935801687
|
|
NM_000751.3(CHRND):c.725T>C (p.Ile242Thr)
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NM_000751.3(CHRND):c.726C>T (p.Ile242=)
|
rs1335079963
|
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NM_000751.3(CHRND):c.731G>A (p.Arg244His)
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|
|
NM_000751.3(CHRND):c.736C>T (p.Pro246Ser)
|
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NM_000751.3(CHRND):c.738C>G (p.Pro246=)
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NM_000751.3(CHRND):c.772G>A (p.Val258Met)
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NM_000751.3(CHRND):c.784_786del (p.Phe262del)
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NM_000751.3(CHRND):c.79C>T (p.Arg27Trp)
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|
NM_000751.3(CHRND):c.820+13G>A
|
rs763880179
|
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NM_000751.3(CHRND):c.820+13G>T
|
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|
NM_000751.3(CHRND):c.820+17C>G
|
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NM_000751.3(CHRND):c.820+17C>T
|
|
|
NM_000751.3(CHRND):c.820+5G>A
|
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NM_000751.3(CHRND):c.820_820+1del
|
rs879255564
|
|
NM_000751.3(CHRND):c.821-19C>T
|
|
|
NM_000751.3(CHRND):c.821-5C>A
|
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|
NM_000751.3(CHRND):c.822T>G (p.Ser274Arg)
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|
|
NM_000751.3(CHRND):c.839T>C (p.Val280Ala)
|
|
|
NM_000751.3(CHRND):c.859G>T (p.Ala287Ser)
|
rs1691690683
|
|
NM_000751.3(CHRND):c.866C>T (p.Ser289Phe)
|
rs121909502
|
|
NM_000751.3(CHRND):c.880C>T (p.Leu294Phe)
|
rs1574633904
|
|
NM_000751.3(CHRND):c.888C>T (p.Ser296=)
|
rs2106211370
|
|
NM_000751.3(CHRND):c.88del (p.Arg30fs)
|
rs1266948051
|
|
NM_000751.3(CHRND):c.904A>C (p.Thr302Pro)
|
rs561839978
|
|
NM_000751.3(CHRND):c.912G>A (p.Met304Ile)
|
|
|
NM_000751.3(CHRND):c.921C>T (p.Pro307=)
|
rs1691694178
|
|
NM_000751.3(CHRND):c.929G>A (p.Gly310Asp)
|
|
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NM_000751.3(CHRND):c.932+17C>A
|
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NM_000751.3(CHRND):c.932+2T>A
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NM_000751.3(CHRND):c.932+5G>T
|
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|
NM_000751.3(CHRND):c.933-19G>A
|
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NM_000751.3(CHRND):c.933-6C>G
|
|
|
NM_000751.3(CHRND):c.933-7C>T
|
|
|
NM_000751.3(CHRND):c.938T>C (p.Leu313Pro)
|
|
|
NM_000751.3(CHRND):c.954G>C (p.Val318=)
|
|
|
NM_000751.3(CHRND):c.956T>C (p.Leu319Pro)
|
rs1553575093
|
|
NM_000751.3(CHRND):c.962C>A (p.Thr321Asn)
|
rs776316455
|
|
NM_000751.3(CHRND):c.967G>T (p.Val323Phe)
|
|
|
NM_000751.3(CHRND):c.96G>T (p.Leu32=)
|
rs1574627606
|
|
NM_000751.3(CHRND):c.982G>T (p.Val328Phe)
|
|
|
NM_000751.3(CHRND):c.983T>A (p.Val328Asp)
|
rs2106211615
|
|
NM_000751.3(CHRND):c.987C>T (p.Ile329=)
|
|
|
NM_000751.3(CHRND):c.991C>T (p.Leu331Phe)
|
rs1292476417
|
|
NM_000751.3(CHRND):c.993C>T (p.Leu331=)
|
|
|