NM_001006658.3(CR2):c.3185C>A (p.Ala1062Glu)
|
rs17617
|
0.88540
|
NM_001006658.3(CR2):c.1776G>A (p.Leu592=)
|
rs1048971
|
0.42495
|
NM_001006658.3(CR2):c.1987T>C (p.Ser663Pro)
|
rs4308977
|
0.32718
|
NM_001006658.3(CR2):c.1916G>A (p.Ser639Asn)
|
rs17615
|
0.30786
|
NM_001006658.3(CR2):c.2012G>A (p.Arg671His)
|
rs17616
|
0.30700
|
NM_001006658.3(CR2):c.2328T>C (p.Ile776=)
|
rs61735651
|
0.09124
|
NM_001006658.3(CR2):c.58+97G>A
|
rs1876453
|
0.08516
|
NM_001006658.3(CR2):c.3154A>G (p.Ile1052Val)
|
rs17618
|
0.07668
|
NM_001006658.3(CR2):c.1617C>T (p.Thr539=)
|
rs34349246
|
0.02179
|
NM_001006658.3(CR2):c.2649T>C (p.Gly883=)
|
rs1143665
|
0.02114
|
NM_001006658.3(CR2):c.635-20A>T
|
rs17045039
|
0.00789
|
NM_001006658.3(CR2):c.445+17A>G
|
rs145095346
|
0.00786
|
NM_001006658.3(CR2):c.1622G>T (p.Ser541Ile)
|
rs144075435
|
0.00520
|
NM_001006658.3(CR2):c.2240+19A>G
|
rs140933861
|
0.00357
|
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu)
|
rs144572703
|
0.00319
|
NM_001006658.3(CR2):c.2352T>C (p.Ile784=)
|
rs142319454
|
0.00170
|
NM_001006658.3(CR2):c.2903-3C>A
|
rs372214909
|
0.00128
|
NM_001006658.3(CR2):c.1458T>C (p.Phe486=)
|
rs147378770
|
0.00115
|
NM_001006658.3(CR2):c.2836G>A (p.Val946Met)
|
rs147451324
|
0.00115
|
NM_001006658.3(CR2):c.2628T>G (p.Asn876Lys)
|
rs138979306
|
0.00113
|
NM_001006658.3(CR2):c.2844G>A (p.Glu948=)
|
rs61754518
|
0.00098
|
NM_001006658.3(CR2):c.1978+7A>T
|
rs201274951
|
0.00068
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00065
|
NM_001006658.3(CR2):c.2654G>A (p.Arg885His)
|
rs140808707
|
0.00061
|
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)
|
rs143614333
|
0.00058
|
NM_001006658.3(CR2):c.2030C>T (p.Thr677Met)
|
rs142648420
|
0.00056
|
NM_001006658.3(CR2):c.3187C>T (p.Arg1063Cys)
|
rs145499318
|
0.00042
|
NM_001006658.3(CR2):c.2146C>T (p.Arg716Trp)
|
rs144014118
|
0.00041
|
NM_001006658.3(CR2):c.3251C>A (p.Ser1084Tyr)
|
rs142273168
|
0.00041
|
NM_001006658.3(CR2):c.3047C>T (p.Ser1016Leu)
|
rs138062179
|
0.00034
|
NM_001006658.3(CR2):c.3189-18C>A
|
rs201592897
|
0.00034
|
NM_001006658.3(CR2):c.2006A>G (p.His669Arg)
|
rs139230275
|
0.00033
|
NM_001006658.3(CR2):c.2747C>T (p.Thr916Ile)
|
rs61754517
|
0.00033
|
NM_001006658.3(CR2):c.2940C>A (p.Ile980=)
|
rs148770668
|
0.00032
|
NM_001006658.3(CR2):c.1494-17C>T
|
rs150388945
|
0.00031
|
NM_001006658.3(CR2):c.1395A>G (p.Gln465=)
|
rs188078143
|
0.00029
|
NM_001006658.3(CR2):c.1475A>G (p.Asn492Ser)
|
rs142212472
|
0.00027
|
NM_001006658.3(CR2):c.3188+13G>A
|
rs199895961
|
0.00027
|
NM_001006658.3(CR2):c.641G>A (p.Arg214His)
|
rs141831783
|
0.00025
|
NM_001006658.3(CR2):c.200C>G (p.Thr67Ser)
|
rs45573035
|
0.00024
|
NM_001006658.3(CR2):c.2445A>G (p.Gly815=)
|
rs141282665
|
0.00024
|
NM_001006658.3(CR2):c.1931G>A (p.Cys644Tyr)
|
rs149972318
|
0.00023
|
NM_001006658.3(CR2):c.2218G>A (p.Val740Ile)
|
rs546560368
|
0.00022
|
NM_001006658.3(CR2):c.2723T>C (p.Ile908Thr)
|
rs138785170
|
0.00021
|
NM_001006658.3(CR2):c.3033G>C (p.Gln1011His)
|
rs200182370
|
0.00021
|
NM_001006658.3(CR2):c.375C>T (p.Asn125=)
|
rs138096192
|
0.00018
|
NM_001006658.3(CR2):c.728A>T (p.Asp243Val)
|
rs368883636
|
0.00017
|
NM_001006658.3(CR2):c.2496C>T (p.Ser832=)
|
rs139322251
|
0.00016
|
NM_001006658.3(CR2):c.2967G>A (p.Met989Ile)
|
rs146465618
|
0.00016
|
NM_001006658.3(CR2):c.58+13G>A
|
rs373721952
|
0.00016
|
NM_001006658.3(CR2):c.2156-20_2156-18del
|
rs749874698
|
0.00015
|
NM_001006658.3(CR2):c.1383C>G (p.Pro461=)
|
rs150464766
|
0.00013
|
NM_001006658.3(CR2):c.3088+14G>A
|
rs558560473
|
0.00012
|
NM_001006658.3(CR2):c.2140G>T (p.Ala714Ser)
|
rs183720800
|
0.00011
|
NM_001006658.3(CR2):c.2738C>T (p.Pro913Leu)
|
rs772503117
|
0.00010
|
NM_001006658.3(CR2):c.3203A>C (p.Asp1068Ala)
|
rs756904762
|
0.00010
|
NM_001006658.3(CR2):c.59-10T>C
|
rs371075381
|
0.00010
|
NM_001006658.3(CR2):c.1390C>T (p.Pro464Ser)
|
rs41313740
|
0.00009
|
NM_001006658.3(CR2):c.2739G>A (p.Pro913=)
|
rs184057547
|
0.00009
|
NM_001006658.3(CR2):c.568G>A (p.Val190Ile)
|
rs201223793
|
0.00009
|
NM_001006658.3(CR2):c.135C>T (p.Thr45=)
|
rs139230710
|
0.00008
|
NM_001006658.3(CR2):c.2241-6C>T
|
rs200614122
|
0.00008
|
NM_001006658.3(CR2):c.3048G>A (p.Ser1016=)
|
rs145934194
|
0.00008
|
NM_001006658.3(CR2):c.3243A>G (p.Glu1081=)
|
rs371956919
|
0.00008
|
NM_001006658.3(CR2):c.419C>T (p.Pro140Leu)
|
rs563764676
|
0.00008
|
NM_001006658.3(CR2):c.763C>A (p.Arg255=)
|
rs61754519
|
0.00008
|
NM_001006658.3(CR2):c.249A>C (p.Glu83Asp)
|
rs749360324
|
0.00007
|
NM_001006658.3(CR2):c.2773A>G (p.Asn925Asp)
|
rs751506325
|
0.00007
|
NM_001006658.3(CR2):c.599C>T (p.Ser200Leu)
|
rs142206860
|
0.00007
|
NM_001006658.3(CR2):c.666C>T (p.Pro222=)
|
rs778221461
|
0.00007
|
NM_001006658.3(CR2):c.669T>C (p.Asn223=)
|
rs1042114463
|
0.00007
|
NM_001006658.3(CR2):c.817+16A>G
|
rs113013210
|
0.00007
|
NM_001006658.3(CR2):c.1402+1G>A
|
rs372838534
|
0.00006
|
NM_001006658.3(CR2):c.1570+20T>C
|
rs765124055
|
0.00006
|
NM_001006658.3(CR2):c.1688G>A (p.Gly563Glu)
|
rs146749523
|
0.00006
|
NM_001006658.3(CR2):c.2011C>T (p.Arg671Cys)
|
rs754283444
|
0.00006
|
NM_001006658.3(CR2):c.2207G>A (p.Arg736His)
|
rs750302661
|
0.00006
|
NM_001006658.3(CR2):c.2358T>C (p.Asn786=)
|
rs200764424
|
0.00006
|
NM_001006658.3(CR2):c.2506C>T (p.Pro836Ser)
|
rs147263584
|
0.00006
|
NM_001006658.3(CR2):c.2519G>A (p.Arg840Gln)
|
rs201254169
|
0.00006
|
NM_001006658.3(CR2):c.2694T>C (p.Gly898=)
|
rs113905197
|
0.00006
|
NM_001006658.3(CR2):c.276T>G (p.Pro92=)
|
rs371546344
|
0.00006
|
NM_001006658.3(CR2):c.3165C>T (p.Tyr1055=)
|
rs150220212
|
0.00006
|
NM_001006658.3(CR2):c.59-8C>T
|
rs138438493
|
0.00006
|
NM_001006658.3(CR2):c.640C>T (p.Arg214Cys)
|
rs201760344
|
0.00006
|
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter)
|
rs141472681
|
0.00006
|
NM_001006658.3(CR2):c.1402+8G>A
|
rs748950155
|
0.00005
|
NM_001006658.3(CR2):c.1687G>A (p.Gly563Arg)
|
rs148153783
|
0.00005
|
NM_001006658.3(CR2):c.2087T>C (p.Leu696Pro)
|
rs371283468
|
0.00005
|
NM_001006658.3(CR2):c.21C>T (p.Leu7=)
|
rs779365020
|
0.00005
|
NM_001006658.3(CR2):c.2301C>A (p.Phe767Leu)
|
rs772684748
|
0.00005
|
NM_001006658.3(CR2):c.2419T>C (p.Cys807Arg)
|
rs138732088
|
0.00005
|
NM_001006658.3(CR2):c.2529T>C (p.Pro843=)
|
rs765301217
|
0.00005
|
NM_001006658.3(CR2):c.3244_3245del (p.Val1082fs)
|
rs775594743
|
0.00005
|
NM_001006658.3(CR2):c.456C>T (p.Leu152=)
|
rs533297833
|
0.00005
|
NM_001006658.3(CR2):c.59-20G>A
|
rs777500765
|
0.00005
|
NM_001006658.3(CR2):c.12G>A (p.Ala4=)
|
rs1478924012
|
0.00004
|
NM_001006658.3(CR2):c.1353A>G (p.Ile451Met)
|
rs771341490
|
0.00004
|
NM_001006658.3(CR2):c.1410G>A (p.Ala470=)
|
rs565317532
|
0.00004
|
NM_001006658.3(CR2):c.1597A>T (p.Ile533Phe)
|
rs762951469
|
0.00004
|
NM_001006658.3(CR2):c.1915A>C (p.Ser639Arg)
|
rs144121329
|
0.00004
|
NM_001006658.3(CR2):c.1928G>A (p.Arg643His)
|
rs748735321
|
0.00004
|
NM_001006658.3(CR2):c.2144C>T (p.Pro715Leu)
|
rs751072066
|
0.00004
|
NM_001006658.3(CR2):c.2497G>A (p.Gly833Arg)
|
rs768521188
|
0.00004
|
NM_001006658.3(CR2):c.2743A>G (p.Lys915Glu)
|
rs144005556
|
0.00004
|
NM_001006658.3(CR2):c.2873C>T (p.Thr958Ile)
|
rs762306518
|
0.00004
|
NM_001006658.3(CR2):c.3090T>C (p.Arg1030=)
|
rs771520863
|
0.00004
|
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter)
|
rs185689791
|
0.00004
|
NM_001006658.3(CR2):c.376G>A (p.Gly126Arg)
|
rs200595124
|
0.00004
|
NM_001006658.3(CR2):c.493C>G (p.His165Asp)
|
rs776543969
|
0.00004
|
NM_001006658.3(CR2):c.520G>C (p.Ala174Pro)
|
rs370389616
|
0.00004
|
NM_001006658.3(CR2):c.639A>G (p.Ala213=)
|
rs766392071
|
0.00004
|
NM_001006658.3(CR2):c.740G>A (p.Arg247Gln)
|
rs150622293
|
0.00004
|
NM_001006658.3(CR2):c.1409C>T (p.Ala470Val)
|
rs545091003
|
0.00003
|
NM_001006658.3(CR2):c.171C>T (p.Leu57=)
|
rs1286391697
|
0.00003
|
NM_001006658.3(CR2):c.1833C>T (p.Tyr611=)
|
rs376173832
|
0.00003
|
NM_001006658.3(CR2):c.2111G>A (p.Cys704Tyr)
|
rs374563684
|
0.00003
|
NM_001006658.3(CR2):c.2156-16A>C
|
rs777216094
|
0.00003
|
NM_001006658.3(CR2):c.2228C>T (p.Ser743Phe)
|
rs1357626624
|
0.00003
|
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter)
|
rs751868289
|
0.00003
|
NM_001006658.3(CR2):c.3211C>A (p.Gln1071Lys)
|
rs369363360
|
0.00003
|
NM_001006658.3(CR2):c.600G>A (p.Ser200=)
|
rs1212036940
|
0.00003
|
NM_001006658.3(CR2):c.621C>T (p.Pro207=)
|
rs573346582
|
0.00003
|
NM_001006658.3(CR2):c.665C>T (p.Pro222Leu)
|
rs371733599
|
0.00003
|
NM_001006658.3(CR2):c.80C>T (p.Pro27Leu)
|
rs150906379
|
0.00003
|
NM_001006658.3(CR2):c.1425A>G (p.Gly475=)
|
rs753628062
|
0.00002
|
NM_001006658.3(CR2):c.1468G>C (p.Asp490His)
|
rs143872741
|
0.00002
|
NM_001006658.3(CR2):c.1508G>A (p.Gly503Glu)
|
rs756203331
|
0.00002
|
NM_001006658.3(CR2):c.1511G>A (p.Ser504Asn)
|
rs763216546
|
0.00002
|
NM_001006658.3(CR2):c.1559G>A (p.Arg520His)
|
rs772909129
|
0.00002
|
NM_001006658.3(CR2):c.1652C>T (p.Thr551Met)
|
rs778084554
|
0.00002
|
NM_001006658.3(CR2):c.1962A>G (p.Ile654Met)
|
rs376587591
|
0.00002
|
NM_001006658.3(CR2):c.1965A>G (p.Pro655=)
|
rs772865066
|
0.00002
|
NM_001006658.3(CR2):c.2132G>A (p.Ser711Asn)
|
rs1240549356
|
0.00002
|
NM_001006658.3(CR2):c.2168A>G (p.His723Arg)
|
rs762638244
|
0.00002
|
NM_001006658.3(CR2):c.2226G>A (p.Thr742=)
|
rs374930981
|
0.00002
|
NM_001006658.3(CR2):c.2241-4G>A
|
rs756677536
|
0.00002
|
NM_001006658.3(CR2):c.250T>C (p.Tyr84His)
|
rs1336533629
|
0.00002
|
NM_001006658.3(CR2):c.2578A>G (p.Lys860Glu)
|
rs373514640
|
0.00002
|
NM_001006658.3(CR2):c.2586T>A (p.His862Gln)
|
rs776844477
|
0.00002
|
NM_001006658.3(CR2):c.2620G>C (p.Asp874His)
|
rs759615903
|
0.00002
|
NM_001006658.3(CR2):c.2643G>C (p.Met881Ile)
|
rs568997285
|
0.00002
|
NM_001006658.3(CR2):c.2656G>A (p.Val886Met)
|
rs748038018
|
0.00002
|
NM_001006658.3(CR2):c.2882A>T (p.Gln961Leu)
|
rs191264913
|
0.00002
|
NM_001006658.3(CR2):c.2960G>A (p.Arg987Lys)
|
rs774951053
|
0.00002
|
NM_001006658.3(CR2):c.3057A>G (p.Gln1019=)
|
rs143091851
|
0.00002
|
NM_001006658.3(CR2):c.3074C>T (p.Ala1025Val)
|
rs1193574112
|
0.00002
|
NM_001006658.3(CR2):c.3088+15C>T
|
rs759421529
|
0.00002
|
NM_001006658.3(CR2):c.3088+18C>T
|
rs189712638
|
0.00002
|
NM_001006658.3(CR2):c.3141C>A (p.Thr1047=)
|
rs776576193
|
0.00002
|
NM_001006658.3(CR2):c.3188+15G>A
|
rs1194255781
|
0.00002
|
NM_001006658.3(CR2):c.325A>G (p.Arg109Gly)
|
rs374754086
|
0.00002
|
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter)
|
rs201017642
|
0.00002
|
NM_001006658.3(CR2):c.446-10G>T
|
rs1422635726
|
0.00002
|
NM_001006658.3(CR2):c.485A>G (p.Asn162Ser)
|
rs190990627
|
0.00002
|
NM_001006658.3(CR2):c.507T>A (p.Asn169Lys)
|
rs759285664
|
0.00002
|
NM_001006658.3(CR2):c.636G>C (p.Glu212Asp)
|
rs760733654
|
0.00002
|
NM_001006658.3(CR2):c.697C>T (p.Arg233Trp)
|
rs755984980
|
0.00002
|
NM_001006658.3(CR2):c.1253A>G (p.Asn418Ser)
|
rs368025734
|
0.00001
|
NM_001006658.3(CR2):c.1274A>T (p.His425Leu)
|
rs565397037
|
0.00001
|
NM_001006658.3(CR2):c.1282C>T (p.Arg428Cys)
|
rs373176986
|
0.00001
|
NM_001006658.3(CR2):c.1300T>A (p.Ser434Thr)
|
rs1209951988
|
0.00001
|
NM_001006658.3(CR2):c.1322C>G (p.Pro441Arg)
|
rs775269251
|
0.00001
|
NM_001006658.3(CR2):c.1402+6A>G
|
rs41274754
|
0.00001
|
NM_001006658.3(CR2):c.1493+11G>A
|
rs375667838
|
0.00001
|
NM_001006658.3(CR2):c.1537A>G (p.Ile513Val)
|
rs1210123747
|
0.00001
|
NM_001006658.3(CR2):c.1561C>G (p.Leu521Val)
|
rs1031620670
|
0.00001
|
NM_001006658.3(CR2):c.1571-10A>C
|
rs1424936515
|
0.00001
|
NM_001006658.3(CR2):c.1571-6C>T
|
rs759031858
|
0.00001
|
NM_001006658.3(CR2):c.1590C>A (p.Pro530=)
|
rs769755477
|
0.00001
|
NM_001006658.3(CR2):c.1613A>G (p.His538Arg)
|
rs763755514
|
0.00001
|
NM_001006658.3(CR2):c.1650C>T (p.Thr550=)
|
rs369914899
|
0.00001
|
NM_001006658.3(CR2):c.166C>T (p.Arg56Cys)
|
rs780129217
|
0.00001
|
NM_001006658.3(CR2):c.169C>T (p.Leu57Phe)
|
rs1039507759
|
0.00001
|
NM_001006658.3(CR2):c.1788C>T (p.Ser596=)
|
rs745752930
|
0.00001
|
NM_001006658.3(CR2):c.1837A>G (p.Ile613Val)
|
rs765531425
|
0.00001
|
NM_001006658.3(CR2):c.1921C>G (p.Gln641Glu)
|
rs755692271
|
0.00001
|
NM_001006658.3(CR2):c.1927C>T (p.Arg643Cys)
|
rs1472639999
|
0.00001
|
NM_001006658.3(CR2):c.1937C>T (p.Ala646Val)
|
rs1473516032
|
0.00001
|
NM_001006658.3(CR2):c.1958A>G (p.Glu653Gly)
|
rs1404530321
|
0.00001
|
NM_001006658.3(CR2):c.1985A>G (p.Gln662Arg)
|
rs189823830
|
0.00001
|
NM_001006658.3(CR2):c.2001C>T (p.Leu667=)
|
rs773701350
|
0.00001
|
NM_001006658.3(CR2):c.2031G>A (p.Thr677=)
|
rs752255693
|
0.00001
|
NM_001006658.3(CR2):c.2062T>C (p.Tyr688His)
|
rs757174881
|
0.00001
|
NM_001006658.3(CR2):c.2064C>T (p.Tyr688=)
|
rs377320082
|
0.00001
|
NM_001006658.3(CR2):c.2110T>C (p.Cys704Arg)
|
rs777109970
|
0.00001
|
NM_001006658.3(CR2):c.212T>C (p.Val71Ala)
|
rs776864053
|
0.00001
|
NM_001006658.3(CR2):c.2147G>A (p.Arg716Gln)
|
rs368683590
|
0.00001
|
NM_001006658.3(CR2):c.214G>A (p.Asp72Asn)
|
rs759188564
|
0.00001
|
NM_001006658.3(CR2):c.2160A>G (p.Thr720=)
|
rs1489879720
|
0.00001
|
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter)
|
rs1334688271
|
0.00001
|
NM_001006658.3(CR2):c.2240+17C>G
|
rs1382894694
|
0.00001
|
NM_001006658.3(CR2):c.2266C>G (p.Gln756Glu)
|
rs779357644
|
0.00001
|
NM_001006658.3(CR2):c.2278G>A (p.Asp760Asn)
|
rs1260586997
|
0.00001
|
NM_001006658.3(CR2):c.2324-17C>T
|
rs944912892
|
0.00001
|
NM_001006658.3(CR2):c.242A>G (p.Lys81Arg)
|
rs147860820
|
0.00001
|
NM_001006658.3(CR2):c.2483A>G (p.His828Arg)
|
rs934864394
|
0.00001
|
NM_001006658.3(CR2):c.2536C>T (p.Arg846Cys)
|
rs758938753
|
0.00001
|
NM_001006658.3(CR2):c.2538C>T (p.Arg846=)
|
rs113054614
|
0.00001
|
NM_001006658.3(CR2):c.2651G>A (p.Ser884Asn)
|
rs200538061
|
0.00001
|
NM_001006658.3(CR2):c.2655C>T (p.Arg885=)
|
rs754951032
|
0.00001
|
NM_001006658.3(CR2):c.2726G>A (p.Gly909Glu)
|
rs963944104
|
0.00001
|
NM_001006658.3(CR2):c.2734C>T (p.Pro912Ser)
|
rs1490277692
|
0.00001
|
NM_001006658.3(CR2):c.2754C>T (p.Asn918=)
|
rs776361702
|
0.00001
|
NM_001006658.3(CR2):c.2760C>T (p.Asn920=)
|
rs535893935
|
0.00001
|
NM_001006658.3(CR2):c.2783G>A (p.Arg928Gln)
|
rs756989345
|
0.00001
|
NM_001006658.3(CR2):c.2816G>A (p.Cys939Tyr)
|
rs937641582
|
0.00001
|
NM_001006658.3(CR2):c.2829C>T (p.Tyr943=)
|
rs549779335
|
0.00001
|
NM_001006658.3(CR2):c.283A>G (p.Ile95Val)
|
rs750220618
|
0.00001
|
NM_001006658.3(CR2):c.2863C>T (p.His955Tyr)
|
rs1329384177
|
0.00001
|
NM_001006658.3(CR2):c.2879G>A (p.Ser960Asn)
|
rs1470426603
|
0.00001
|
NM_001006658.3(CR2):c.2902+4C>A
|
rs1366279164
|
0.00001
|
NM_001006658.3(CR2):c.3017dup (p.Glu1007fs)
|
rs779475083
|
0.00001
|
NM_001006658.3(CR2):c.3032A>G (p.Gln1011Arg)
|
rs201641677
|
0.00001
|
NM_001006658.3(CR2):c.3061A>G (p.Asn1021Asp)
|
rs746404104
|
0.00001
|
NM_001006658.3(CR2):c.3085T>A (p.Ser1029Thr)
|
rs1177550039
|
0.00001
|
NM_001006658.3(CR2):c.3088+16T>C
|
rs771573990
|
0.00001
|
NM_001006658.3(CR2):c.3088+1G>A
|
rs200320927
|
0.00001
|
NM_001006658.3(CR2):c.3088C>T (p.Arg1030Cys)
|
rs1358947848
|
0.00001
|
NM_001006658.3(CR2):c.3092C>T (p.Ser1031Leu)
|
rs772806588
|
0.00001
|
NM_001006658.3(CR2):c.3111T>G (p.Cys1037Trp)
|
rs978563309
|
0.00001
|
NM_001006658.3(CR2):c.317C>T (p.Thr106Ile)
|
rs1279283315
|
0.00001
|
NM_001006658.3(CR2):c.3188+14C>T
|
rs376109421
|
0.00001
|
NM_001006658.3(CR2):c.3198T>C (p.Tyr1066=)
|
rs1377978443
|
0.00001
|
NM_001006658.3(CR2):c.3223T>A (p.Phe1075Ile)
|
rs756117589
|
0.00001
|
NM_001006658.3(CR2):c.3261A>G (p.Pro1087=)
|
rs374978382
|
0.00001
|
NM_001006658.3(CR2):c.327A>G (p.Arg109=)
|
rs1185549545
|
0.00001
|
NM_001006658.3(CR2):c.32T>C (p.Leu11Ser)
|
rs748860952
|
0.00001
|
NM_001006658.3(CR2):c.334G>A (p.Asp112Asn)
|
rs367581933
|
0.00001
|
NM_001006658.3(CR2):c.363C>T (p.Asn121=)
|
rs201962814
|
0.00001
|
NM_001006658.3(CR2):c.389T>C (p.Val130Ala)
|
rs543886209
|
0.00001
|
NM_001006658.3(CR2):c.445+6T>C
|
rs753028434
|
0.00001
|
NM_001006658.3(CR2):c.445+9G>C
|
rs532787805
|
0.00001
|
NM_001006658.3(CR2):c.452C>T (p.Pro151Leu)
|
rs138760137
|
0.00001
|
NM_001006658.3(CR2):c.52G>A (p.Val18Ile)
|
rs892246082
|
0.00001
|
NM_001006658.3(CR2):c.556G>A (p.Gly186Ser)
|
rs1435094750
|
0.00001
|
NM_001006658.3(CR2):c.565C>T (p.Leu189Phe)
|
rs1357178966
|
0.00001
|
NM_001006658.3(CR2):c.59-12T>G
|
rs1439342810
|
0.00001
|
NM_001006658.3(CR2):c.610A>G (p.Ser204Gly)
|
rs1439521722
|
0.00001
|
NM_001006658.3(CR2):c.612T>C (p.Ser204=)
|
rs746566723
|
0.00001
|
NM_001006658.3(CR2):c.635-14G>A
|
rs373992562
|
0.00001
|
NM_001006658.3(CR2):c.635-8T>G
|
rs199889815
|
0.00001
|
NM_001006658.3(CR2):c.668A>G (p.Asn223Ser)
|
rs374710389
|
0.00001
|
NM_001006658.3(CR2):c.681G>A (p.Lys227=)
|
rs1293514059
|
0.00001
|
NM_001006658.3(CR2):c.705T>C (p.Gly235=)
|
rs1439554977
|
0.00001
|
NM_001006658.3(CR2):c.729T>C (p.Asp243=)
|
rs774149171
|
0.00001
|
NM_001006658.3(CR2):c.734+5G>A
|
rs1658186322
|
0.00001
|
NM_001006658.3(CR2):c.74C>G (p.Ser25Cys)
|
rs1437268469
|
0.00001
|
NM_001006658.3(CR2):c.752C>T (p.Pro251Leu)
|
rs769307763
|
0.00001
|
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter)
|
rs1030733127
|
0.00001
|
NM_001006658.3(CR2):c.789T>C (p.Val263=)
|
rs765852435
|
0.00001
|
NM_001006658.3(CR2):c.97C>T (p.Arg33Trp)
|
rs201201097
|
0.00001
|
NM_001006658.3(CR2):c.120C>T (p.Pro40=)
|
|
|
NM_001006658.3(CR2):c.1226-6A>G
|
rs2102304115
|
|
NM_001006658.3(CR2):c.1226-8T>C
|
rs538276366
|
|
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter)
|
|
|
NM_001006658.3(CR2):c.1236C>A (p.Ala412=)
|
|
|
NM_001006658.3(CR2):c.1236C>G (p.Ala412=)
|
|
|
NM_001006658.3(CR2):c.125C>T (p.Ala42Val)
|
|
|
NM_001006658.3(CR2):c.1268A>T (p.Asp423Val)
|
rs1658251966
|
|
NM_001006658.3(CR2):c.127G>C (p.Val43Leu)
|
rs2102300576
|
|
NM_001006658.3(CR2):c.1283G>A (p.Arg428His)
|
|
|
NM_001006658.3(CR2):c.1295G>A (p.Gly432Glu)
|
rs781255614
|
|
NM_001006658.3(CR2):c.1295G>C (p.Gly432Ala)
|
rs781255614
|
|
NM_001006658.3(CR2):c.1296A>T (p.Gly432=)
|
rs201585844
|
|
NM_001006658.3(CR2):c.1318A>G (p.Asn440Asp)
|
|
|
NM_001006658.3(CR2):c.1321C>A (p.Pro441Thr)
|
rs1658253775
|
|
NM_001006658.3(CR2):c.1325G>A (p.Gly442Asp)
|
|
|
NM_001006658.3(CR2):c.1333C>G (p.Leu445Val)
|
|
|
NM_001006658.3(CR2):c.1334T>G (p.Leu445Arg)
|
rs2102304234
|
|
NM_001006658.3(CR2):c.1346A>G (p.Glu449Gly)
|
rs1658255161
|
|
NM_001006658.3(CR2):c.1352T>A (p.Ile451Lys)
|
|
|
NM_001006658.3(CR2):c.1352T>C (p.Ile451Thr)
|
rs1303945667
|
|
NM_001006658.3(CR2):c.1372G>A (p.Val458Met)
|
rs765653703
|
|
NM_001006658.3(CR2):c.1389A>G (p.Val463=)
|
|
|
NM_001006658.3(CR2):c.1391C>T (p.Pro464Leu)
|
|
|
NM_001006658.3(CR2):c.1402+16T>A
|
|
|
NM_001006658.3(CR2):c.1402+17G>A
|
|
|
NM_001006658.3(CR2):c.1403-11T>C
|
rs2102304391
|
|
NM_001006658.3(CR2):c.1403-14G>A
|
|
|
NM_001006658.3(CR2):c.1403-17C>G
|
|
|
NM_001006658.3(CR2):c.1403-7_1403-6del
|
|
|
NM_001006658.3(CR2):c.1410G>C (p.Ala470=)
|
rs565317532
|
|
NM_001006658.3(CR2):c.1417G>A (p.Ala473Thr)
|
rs1307691039
|
|
NM_001006658.3(CR2):c.1425A>T (p.Gly475=)
|
rs753628062
|
|
NM_001006658.3(CR2):c.1458del (p.Phe486fs)
|
|
|
NM_001006658.3(CR2):c.1459G>A (p.Val487Ile)
|
|
|
NM_001006658.3(CR2):c.1466C>G (p.Pro489Arg)
|
|
|
NM_001006658.3(CR2):c.1484G>A (p.Cys495Tyr)
|
|
|
NM_001006658.3(CR2):c.1493+11G>T
|
rs375667838
|
|
NM_001006658.3(CR2):c.1493+15A>G
|
|
|
NM_001006658.3(CR2):c.1494-14G>A
|
rs2102304705
|
|
NM_001006658.3(CR2):c.1494-16G>A
|
|
|
NM_001006658.3(CR2):c.1509G>A (p.Gly503=)
|
|
|
NM_001006658.3(CR2):c.1511G>T (p.Ser504Ile)
|
rs763216546
|
|
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)
|
|
|
NM_001006658.3(CR2):c.151T>G (p.Cys51Gly)
|
rs1248514226
|
|
NM_001006658.3(CR2):c.1523A>G (p.Glu508Gly)
|
rs2102304745
|
|
NM_001006658.3(CR2):c.1524G>A (p.Glu508=)
|
|
|
NM_001006658.3(CR2):c.1558C>T (p.Arg520Cys)
|
|
|
NM_001006658.3(CR2):c.1559G>C (p.Arg520Pro)
|
|
|
NM_001006658.3(CR2):c.156A>G (p.Ser52=)
|
|
|
NM_001006658.3(CR2):c.1570+17A>T
|
|
|
NM_001006658.3(CR2):c.1570+5G>A
|
|
|
NM_001006658.3(CR2):c.1571-11C>A
|
|
|
NM_001006658.3(CR2):c.1571-16C>A
|
|
|
NM_001006658.3(CR2):c.1591C>T (p.Pro531Ser)
|
|
|
NM_001006658.3(CR2):c.1605T>C (p.Asn535=)
|
rs2102305708
|
|
NM_001006658.3(CR2):c.1618G>T (p.Gly540Trp)
|
rs760957341
|
|
NM_001006658.3(CR2):c.1619G>A (p.Gly540Glu)
|
|
|
NM_001006658.3(CR2):c.1628T>C (p.Leu543Ser)
|
rs1041517725
|
|
NM_001006658.3(CR2):c.1633G>C (p.Asp545His)
|
|
|
NM_001006658.3(CR2):c.1646del (p.Gly549fs)
|
rs1658320297
|
|
NM_001006658.3(CR2):c.1648A>G (p.Thr550Ala)
|
|
|
NM_001006658.3(CR2):c.1653G>A (p.Thr551=)
|
rs373293174
|
|
NM_001006658.3(CR2):c.1653G>T (p.Thr551=)
|
|
|
NM_001006658.3(CR2):c.1655T>C (p.Val552Ala)
|
rs2102305778
|
|
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs)
|
rs1558192723
|
|
NM_001006658.3(CR2):c.1665A>T (p.Thr555=)
|
rs780877690
|
|
NM_001006658.3(CR2):c.1678C>A (p.Pro560Thr)
|
rs1658322230
|
|
NM_001006658.3(CR2):c.167G>A (p.Arg56His)
|
rs749471642
|
|
NM_001006658.3(CR2):c.168C>T (p.Arg56=)
|
rs2102300615
|
|
NM_001006658.3(CR2):c.1700G>C (p.Ser567Thr)
|
rs1658323126
|
|
NM_001006658.3(CR2):c.1706T>C (p.Ile569Thr)
|
|
|
NM_001006658.3(CR2):c.1716C>T (p.Ser572=)
|
|
|
NM_001006658.3(CR2):c.1720A>G (p.Ile574Val)
|
|
|
NM_001006658.3(CR2):c.1736A>G (p.Asn579Ser)
|
|
|
NM_001006658.3(CR2):c.173T>C (p.Ile58Thr)
|
rs2102300624
|
|
NM_001006658.3(CR2):c.1773C>T (p.Pro591=)
|
rs568507355
|
|
NM_001006658.3(CR2):c.1789C>G (p.Leu597Val)
|
rs2102305933
|
|
NM_001006658.3(CR2):c.1798G>A (p.Val600Ile)
|
rs768711174
|
|
NM_001006658.3(CR2):c.1807T>G (p.Ser603Ala)
|
|
|
NM_001006658.3(CR2):c.182A>C (p.Lys61Thr)
|
rs779099901
|
|
NM_001006658.3(CR2):c.1834A>G (p.Lys612Glu)
|
rs1658330531
|
|
NM_001006658.3(CR2):c.1844G>T (p.Gly615Val)
|
|
|
NM_001006658.3(CR2):c.1848G>T (p.Lys616Asn)
|
|
|
NM_001006658.3(CR2):c.184A>C (p.Ser62Arg)
|
|
|
NM_001006658.3(CR2):c.1853C>T (p.Ala618Val)
|
|
|
NM_001006658.3(CR2):c.1857A>G (p.Pro619=)
|
|
|
NM_001006658.3(CR2):c.1868A>G (p.Asn623Ser)
|
rs2102306009
|
|
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs)
|
|
|
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter)
|
rs1331358695
|
|
NM_001006658.3(CR2):c.1894A>G (p.Ser632Gly)
|
rs1658332296
|
|
NM_001006658.3(CR2):c.189A>G (p.Leu63=)
|
rs34486455
|
|
NM_001006658.3(CR2):c.1928G>T (p.Arg643Leu)
|
rs748735321
|
|
NM_001006658.3(CR2):c.192A>T (p.Leu64Phe)
|
|
|
NM_001006658.3(CR2):c.193T>C (p.Cys65Arg)
|
|
|
NM_001006658.3(CR2):c.1944C>G (p.Asn648Lys)
|
rs1572957473
|
|
NM_001006658.3(CR2):c.1966G>A (p.Val656Ile)
|
rs541574155
|
|
NM_001006658.3(CR2):c.1975A>G (p.Lys659Glu)
|
rs1247411868
|
|
NM_001006658.3(CR2):c.1978+10C>T
|
|
|
NM_001006658.3(CR2):c.1978+19G>A
|
|
|
NM_001006658.3(CR2):c.1978+20G>T
|
|
|
NM_001006658.3(CR2):c.1978+9C>A
|
|
|
NM_001006658.3(CR2):c.1979-16G>A
|
|
|
NM_001006658.3(CR2):c.1979-19A>G
|
|
|
NM_001006658.3(CR2):c.2007T>C (p.His669=)
|
|
|
NM_001006658.3(CR2):c.2018C>G (p.Thr673Arg)
|
rs141171306
|
|
NM_001006658.3(CR2):c.2019A>G (p.Thr673=)
|
|
|
NM_001006658.3(CR2):c.202A>G (p.Lys68Glu)
|
|
|
NM_001006658.3(CR2):c.2035T>G (p.Phe679Val)
|
|
|
NM_001006658.3(CR2):c.2040del (p.Phe680fs)
|
|
|
NM_001006658.3(CR2):c.2043C>T (p.Val681=)
|
rs1205385876
|
|
NM_001006658.3(CR2):c.2045C>G (p.Ser682Cys)
|
rs1658350470
|
|
NM_001006658.3(CR2):c.2067T>C (p.Thr689=)
|
rs2102306483
|
|
NM_001006658.3(CR2):c.206A>G (p.Asp69Gly)
|
rs1658109013
|
|
NM_001006658.3(CR2):c.2081A>G (p.Tyr694Cys)
|
|
|
NM_001006658.3(CR2):c.2090T>C (p.Val697Ala)
|
|
|
NM_001006658.3(CR2):c.2105T>G (p.Ile702Ser)
|
rs2102306520
|
|
NM_001006658.3(CR2):c.2117C>T (p.Pro706Leu)
|
|
|
NM_001006658.3(CR2):c.2127T>C (p.Asn709=)
|
rs762537434
|
|
NM_001006658.3(CR2):c.213G>A (p.Val71=)
|
|
|
NM_001006658.3(CR2):c.2150G>T (p.Cys717Phe)
|
|
|
NM_001006658.3(CR2):c.2155+7T>G
|
|
|
NM_001006658.3(CR2):c.2155+7del
|
rs757509836
|
|
NM_001006658.3(CR2):c.2156-14C>T
|
|
|
NM_001006658.3(CR2):c.2156-16A>G
|
|
|
NM_001006658.3(CR2):c.215A>G (p.Asp72Gly)
|
rs1438807962
|
|
NM_001006658.3(CR2):c.2165A>T (p.Gln722Leu)
|
|
|
NM_001006658.3(CR2):c.2166G>A (p.Gln722=)
|
rs2102306635
|
|
NM_001006658.3(CR2):c.2168A>T (p.His723Leu)
|
|
|
NM_001006658.3(CR2):c.2175A>G (p.Arg725=)
|
|
|
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs)
|
rs1658357615
|
|
NM_001006658.3(CR2):c.2206C>T (p.Arg736Cys)
|
rs1439843661
|
|
NM_001006658.3(CR2):c.2211G>A (p.Val737=)
|
|
|
NM_001006658.3(CR2):c.2223T>C (p.Asn741=)
|
|
|
NM_001006658.3(CR2):c.2225C>T (p.Thr742Met)
|
|
|
NM_001006658.3(CR2):c.222C>G (p.Thr74=)
|
rs1263033861
|
|
NM_001006658.3(CR2):c.2238T>C (p.Asp746=)
|
|
|
NM_001006658.3(CR2):c.2240+1G>A
|
|
|
NM_001006658.3(CR2):c.2240+8T>G
|
|
|
NM_001006658.3(CR2):c.2240G>A (p.Gly747Glu)
|
rs1273753802
|
|
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter)
|
|
|
NM_001006658.3(CR2):c.2250G>A (p.Leu750=)
|
|
|
NM_001006658.3(CR2):c.2252C>G (p.Thr751Ser)
|
rs943572066
|
|
NM_001006658.3(CR2):c.2257C>T (p.His753Tyr)
|
|
|
NM_001006658.3(CR2):c.2258A>G (p.His753Arg)
|
|
|
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)
|
|
|
NM_001006658.3(CR2):c.2280T>C (p.Asp760=)
|
|
|
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter)
|
rs398122863
|
|
NM_001006658.3(CR2):c.2297G>T (p.Trp766Leu)
|
rs398122863
|
|
NM_001006658.3(CR2):c.2299T>C (p.Phe767Leu)
|
rs1021219842
|
|
NM_001006658.3(CR2):c.2303A>G (p.Lys768Arg)
|
rs141755970
|
|
NM_001006658.3(CR2):c.231A>G (p.Lys77=)
|
rs2102300686
|
|
NM_001006658.3(CR2):c.2322A>T (p.Lys774Asn)
|
|
|
NM_001006658.3(CR2):c.2323+16T>C
|
|
|
NM_001006658.3(CR2):c.2323+18A>G
|
rs2102307081
|
|
NM_001006658.3(CR2):c.2323+3A>G
|
|
|
NM_001006658.3(CR2):c.2323+5G>A
|
|
|
NM_001006658.3(CR2):c.2324-18C>T
|
|
|
NM_001006658.3(CR2):c.2324-19C>T
|
|
|
NM_001006658.3(CR2):c.2334T>A (p.Cys778Ter)
|
rs1658388636
|
|
NM_001006658.3(CR2):c.2337C>G (p.His779Gln)
|
rs552678028
|
|
NM_001006658.3(CR2):c.237T>C (p.Ala79=)
|
|
|
NM_001006658.3(CR2):c.2381C>A (p.Ala794Glu)
|
rs1658390177
|
|
NM_001006658.3(CR2):c.2394A>G (p.Leu798=)
|
|
|
NM_001006658.3(CR2):c.2394A>T (p.Leu798=)
|
|
|
NM_001006658.3(CR2):c.2395T>A (p.Tyr799Asn)
|
rs1658390569
|
|
NM_001006658.3(CR2):c.2397T>C (p.Tyr799=)
|
|
|
NM_001006658.3(CR2):c.2402A>G (p.Asn801Ser)
|
rs2102307506
|
|
NM_001006658.3(CR2):c.2411C>G (p.Ser804Cys)
|
|
|
NM_001006658.3(CR2):c.2411C>T (p.Ser804Phe)
|
rs1177912722
|
|
NM_001006658.3(CR2):c.2423del (p.Asp808fs)
|
|
|
NM_001006658.3(CR2):c.2438T>C (p.Leu813Pro)
|
rs1658391928
|
|
NM_001006658.3(CR2):c.243del (p.Lys81fs)
|
rs1572950925
|
|
NM_001006658.3(CR2):c.2460G>T (p.Gln820His)
|
|
|
NM_001006658.3(CR2):c.2472T>C (p.Asp824=)
|
rs1223916481
|
|
NM_001006658.3(CR2):c.2479G>C (p.Gly827Arg)
|
|
|
NM_001006658.3(CR2):c.2487A>G (p.Gly829=)
|
|
|
NM_001006658.3(CR2):c.2495G>A (p.Ser832Asn)
|
rs775501900
|
|
NM_001006658.3(CR2):c.2499G>T (p.Gly833=)
|
|
|
NM_001006658.3(CR2):c.249A>G (p.Glu83=)
|
rs749360324
|
|
NM_001006658.3(CR2):c.2516T>C (p.Leu839Ser)
|
rs1658394736
|
|
NM_001006658.3(CR2):c.2518C>G (p.Arg840Gly)
|
rs766671758
|
|
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter)
|
rs766671758
|
|
NM_001006658.3(CR2):c.2519G>C (p.Arg840Pro)
|
rs201254169
|
|
NM_001006658.3(CR2):c.2534C>T (p.Thr845Ile)
|
|
|
NM_001006658.3(CR2):c.2561A>G (p.His854Arg)
|
rs780966840
|
|
NM_001006658.3(CR2):c.2571G>A (p.Lys857=)
|
|
|
NM_001006658.3(CR2):c.2596T>C (p.Ser866Pro)
|
|
|
NM_001006658.3(CR2):c.2607C>T (p.Asp869=)
|
|
|
NM_001006658.3(CR2):c.2608A>G (p.Ile870Val)
|
rs1658398606
|
|
NM_001006658.3(CR2):c.2613G>A (p.Val871=)
|
rs2102307689
|
|
NM_001006658.3(CR2):c.2620G>A (p.Asp874Asn)
|
|
|
NM_001006658.3(CR2):c.2638A>G (p.Ile880Val)
|
|
|
NM_001006658.3(CR2):c.2640C>G (p.Ile880Met)
|
rs1191307581
|
|
NM_001006658.3(CR2):c.2664G>T (p.Arg888Ser)
|
|
|
NM_001006658.3(CR2):c.2685G>T (p.Trp895Cys)
|
rs1301939743
|
|
NM_001006658.3(CR2):c.2687T>C (p.Val896Ala)
|
rs1406696743
|
|
NM_001006658.3(CR2):c.2692G>T (p.Gly898Cys)
|
|
|
NM_001006658.3(CR2):c.2697G>T (p.Val899=)
|
rs2102307797
|
|
NM_001006658.3(CR2):c.2716+15_2716+19del
|
|
|
NM_001006658.3(CR2):c.2716+2T>C
|
rs2102307813
|
|
NM_001006658.3(CR2):c.2716+9C>T
|
|
|
NM_001006658.3(CR2):c.2755G>A (p.Gly919Arg)
|
|
|
NM_001006658.3(CR2):c.2759A>C (p.Asn920Thr)
|
|
|
NM_001006658.3(CR2):c.2761C>A (p.His921Asn)
|
|
|
NM_001006658.3(CR2):c.2775C>A (p.Asn925Lys)
|
rs756303128
|
|
NM_001006658.3(CR2):c.2783G>T (p.Arg928Leu)
|
rs756989345
|
|
NM_001006658.3(CR2):c.2791C>T (p.Pro931Ser)
|
rs2102308634
|
|
NM_001006658.3(CR2):c.2792C>T (p.Pro931Leu)
|
rs2102308641
|
|
NM_001006658.3(CR2):c.2803A>G (p.Ile935Val)
|
rs2102308649
|
|
NM_001006658.3(CR2):c.2805C>T (p.Ile935=)
|
|
|
NM_001006658.3(CR2):c.2851CTT[1] (p.Leu952del)
|
rs757707093
|
|
NM_001006658.3(CR2):c.2864_2865del (p.His955fs)
|
rs2102308703
|
|
NM_001006658.3(CR2):c.2870G>A (p.Gly957Glu)
|
rs764859619
|
|
NM_001006658.3(CR2):c.2873C>A (p.Thr958Asn)
|
|
|
NM_001006658.3(CR2):c.2895T>G (p.His965Gln)
|
rs1658443099
|
|
NM_001006658.3(CR2):c.2911T>C (p.Cys971Arg)
|
|
|
NM_001006658.3(CR2):c.2920C>A (p.Pro974Thr)
|
rs1292827746
|
|
NM_001006658.3(CR2):c.2942A>T (p.Gln981Leu)
|
rs1658484718
|
|
NM_001006658.3(CR2):c.2963A>C (p.Lys988Thr)
|
|
|
NM_001006658.3(CR2):c.2973G>T (p.Gln991His)
|
|
|
NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys)
|
rs1658485394
|
|
NM_001006658.3(CR2):c.2990C>T (p.Thr997Ile)
|
rs760387989
|
|
NM_001006658.3(CR2):c.2992C>G (p.Leu998Val)
|
|
|
NM_001006658.3(CR2):c.2997G>T (p.Glu999Asp)
|
|
|
NM_001006658.3(CR2):c.3045A>G (p.Gln1015=)
|
|
|
NM_001006658.3(CR2):c.3049G>A (p.Asp1017Asn)
|
|
|
NM_001006658.3(CR2):c.3067C>T (p.Pro1023Ser)
|
rs1180344724
|
|
NM_001006658.3(CR2):c.3068C>A (p.Pro1023His)
|
|
|
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)
|
|
|
NM_001006658.3(CR2):c.3088+19A>G
|
|
|
NM_001006658.3(CR2):c.3088+8C>T
|
|
|
NM_001006658.3(CR2):c.3089-11A>G
|
|
|
NM_001006658.3(CR2):c.3089-1G>A
|
rs1365226221
|
|
NM_001006658.3(CR2):c.3089-3del
|
rs1274247380
|
|
NM_001006658.3(CR2):c.3097G>C (p.Ala1033Pro)
|
rs1215462377
|
|
NM_001006658.3(CR2):c.3100C>G (p.Pro1034Ala)
|
rs1558196448
|
|
NM_001006658.3(CR2):c.3100C>T (p.Pro1034Ser)
|
rs1558196448
|
|
NM_001006658.3(CR2):c.3102T>C (p.Pro1034=)
|
|
|
NM_001006658.3(CR2):c.3112+6T>C
|
rs1658533878
|
|
NM_001006658.3(CR2):c.3112G>A (p.Gly1038Ser)
|
|
|
NM_001006658.3(CR2):c.3113-14G>C
|
|
|
NM_001006658.3(CR2):c.3147G>A (p.Leu1049=)
|
|
|
NM_001006658.3(CR2):c.3166G>T (p.Val1056Leu)
|
rs373698188
|
|
NM_001006658.3(CR2):c.3176A>G (p.Lys1059Arg)
|
|
|
NM_001006658.3(CR2):c.3188+18T>C
|
rs1422889749
|
|
NM_001006658.3(CR2):c.3188+2del
|
rs1658562210
|
|
NM_001006658.3(CR2):c.3189-8C>G
|
|
|
NM_001006658.3(CR2):c.3189-8_3189-7del
|
rs112859639
|
|
NM_001006658.3(CR2):c.3201A>G (p.Thr1067=)
|
|
|
NM_001006658.3(CR2):c.3206C>A (p.Thr1069Lys)
|
|
|
NM_001006658.3(CR2):c.3207A>G (p.Thr1069=)
|
|
|
NM_001006658.3(CR2):c.3209_3211del (p.Ser1070_Gln1071delinsLys)
|
|
|
NM_001006658.3(CR2):c.3210C>T (p.Ser1070=)
|
|
|
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter)
|
rs369363360
|
|
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)
|
|
|
NM_001006658.3(CR2):c.3232G>A (p.Glu1078Lys)
|
rs142489316
|
|
NM_001006658.3(CR2):c.3241G>A (p.Glu1081Lys)
|
rs1658726086
|
|
NM_001006658.3(CR2):c.3246A>C (p.Val1082=)
|
|
|
NM_001006658.3(CR2):c.3248A>T (p.Tyr1083Phe)
|
|
|
NM_001006658.3(CR2):c.3258T>G (p.Asp1086Glu)
|
rs1658726667
|
|
NM_001006658.3(CR2):c.3267C>T (p.Asn1089=)
|
rs1277361561
|
|
NM_001006658.3(CR2):c.3270A>G (p.Pro1090=)
|
|
|
NM_001006658.3(CR2):c.357A>G (p.Lys119=)
|
rs769241648
|
|
NM_001006658.3(CR2):c.369C>T (p.Ser123=)
|
|
|
NM_001006658.3(CR2):c.370A>G (p.Met124Val)
|
|
|
NM_001006658.3(CR2):c.381C>T (p.Asn127=)
|
rs2102300831
|
|
NM_001006658.3(CR2):c.39C>G (p.Leu13=)
|
|
|
NM_001006658.3(CR2):c.40G>C (p.Val14Leu)
|
rs754824683
|
|
NM_001006658.3(CR2):c.40dup (p.Val14fs)
|
|
|
NM_001006658.3(CR2):c.412del (p.Trp138fs)
|
|
|
NM_001006658.3(CR2):c.417G>A (p.Gly139=)
|
|
|
NM_001006658.3(CR2):c.420G>A (p.Pro140=)
|
|
|
NM_001006658.3(CR2):c.425G>T (p.Arg142Leu)
|
rs750210048
|
|
NM_001006658.3(CR2):c.42C>T (p.Val14=)
|
|
|
NM_001006658.3(CR2):c.431C>T (p.Pro144Leu)
|
|
|
NM_001006658.3(CR2):c.435C>T (p.Thr145=)
|
rs2102300887
|
|
NM_001006658.3(CR2):c.438T>G (p.Cys146Trp)
|
|
|
NM_001006658.3(CR2):c.446-12G>A
|
|
|
NM_001006658.3(CR2):c.446-13TG[5]
|
|
|
NM_001006658.3(CR2):c.446-19C>A
|
rs764271765
|
|
NM_001006658.3(CR2):c.457G>A (p.Glu153Lys)
|
|
|
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter)
|
rs1572952530
|
|
NM_001006658.3(CR2):c.492T>C (p.His164=)
|
|
|
NM_001006658.3(CR2):c.504G>A (p.Glu168=)
|
|
|
NM_001006658.3(CR2):c.517A>G (p.Ile173Val)
|
rs1256350974
|
|
NM_001006658.3(CR2):c.523C>T (p.Pro175Ser)
|
rs1318743912
|
|
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu)
|
rs75282758
|
|
NM_001006658.3(CR2):c.527G>T (p.Gly176Val)
|
|
|
NM_001006658.3(CR2):c.54C>T (p.Val18=)
|
|
|
NM_001006658.3(CR2):c.556G>T (p.Gly186Cys)
|
|
|
NM_001006658.3(CR2):c.557G>A (p.Gly186Asp)
|
|
|
NM_001006658.3(CR2):c.58+12G>C
|
rs1572942436
|
|
NM_001006658.3(CR2):c.58+13G>T
|
|
|
NM_001006658.3(CR2):c.58+19C>T
|
rs770082685
|
|
NM_001006658.3(CR2):c.59-13T>C
|
|
|
NM_001006658.3(CR2):c.59-17C>T
|
rs1658101421
|
|
NM_001006658.3(CR2):c.59-5T>C
|
|
|
NM_001006658.3(CR2):c.592_595del (p.Ser199fs)
|
rs868255776
|
|
NM_001006658.3(CR2):c.593dup (p.Leu198fs)
|
rs763336891
|
|
NM_001006658.3(CR2):c.605A>C (p.Lys202Thr)
|
rs893377104
|
|
NM_001006658.3(CR2):c.622C>G (p.Pro208Ala)
|
rs769415969
|
|
NM_001006658.3(CR2):c.622C>T (p.Pro208Ser)
|
rs769415969
|
|
NM_001006658.3(CR2):c.623_624del (p.Pro208fs)
|
rs747832403
|
|
NM_001006658.3(CR2):c.624C>A (p.Pro208=)
|
rs61759494
|
|
NM_001006658.3(CR2):c.624C>G (p.Pro208=)
|
rs61759494
|
|
NM_001006658.3(CR2):c.624C>T (p.Pro208=)
|
rs61759494
|
|
NM_001006658.3(CR2):c.624dup (p.Thr209fs)
|
rs747832403
|
|
NM_001006658.3(CR2):c.635-3T>C
|
|
|
NM_001006658.3(CR2):c.638C>A (p.Ala213Glu)
|
|
|
NM_001006658.3(CR2):c.659G>A (p.Arg220Gln)
|
rs147633291
|
|
NM_001006658.3(CR2):c.659G>T (p.Arg220Leu)
|
|
|
NM_001006658.3(CR2):c.671G>A (p.Gly224Glu)
|
|
|
NM_001006658.3(CR2):c.67T>C (p.Cys23Arg)
|
|
|
NM_001006658.3(CR2):c.685C>G (p.Pro229Ala)
|
rs745407153
|
|
NM_001006658.3(CR2):c.691A>G (p.Ile231Val)
|
|
|
NM_001006658.3(CR2):c.694C>T (p.Leu232Phe)
|
rs1274698415
|
|
NM_001006658.3(CR2):c.698G>A (p.Arg233Gln)
|
|
|
NM_001006658.3(CR2):c.717del (p.Phe241fs)
|
rs1468427986
|
|
NM_001006658.3(CR2):c.721_722del (p.Phe241fs)
|
rs749636258
|
|
NM_001006658.3(CR2):c.723C>T (p.Phe241=)
|
|
|
NM_001006658.3(CR2):c.735-18A>G
|
|
|
NM_001006658.3(CR2):c.735-8G>A
|
rs771024465
|
|
NM_001006658.3(CR2):c.749G>A (p.Gly250Asp)
|
|
|
NM_001006658.3(CR2):c.763C>T (p.Arg255Trp)
|
rs61754519
|
|
NM_001006658.3(CR2):c.764G>A (p.Arg255Gln)
|
|
|
NM_001006658.3(CR2):c.765G>T (p.Arg255=)
|
|
|
NM_001006658.3(CR2):c.768T>C (p.Cys256=)
|
|
|
NM_001006658.3(CR2):c.782A>G (p.Gln261Arg)
|
|
|
NM_001006658.3(CR2):c.787G>A (p.Val263Ile)
|
rs750148498
|
|
NM_001006658.3(CR2):c.794G>C (p.Trp265Ser)
|
rs1658194516
|
|
NM_001006658.3(CR2):c.7G>T (p.Ala3Ser)
|
rs1423906073
|
|
NM_001006658.3(CR2):c.817+13A>G
|
rs2102302776
|
|
NM_001006658.3(CR2):c.817+14C>G
|
|
|
NM_001006658.3(CR2):c.81G>A (p.Pro27=)
|
rs577153960
|
|
NM_001006658.3(CR2):c.96C>T (p.Gly32=)
|
|
|
NM_001006658.3(CR2):c.98G>A (p.Arg33Gln)
|
|
|
NM_001006658.3(CR2):c.9C>T (p.Ala3=)
|
|
|