NM_006393.3(NEBL):c.2654C>T (p.Ser885Phe)
|
rs143584663
|
0.00245
|
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg)
|
rs137973321
|
0.00210
|
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter)
|
rs147622517
|
0.00154
|
NM_006393.3(NEBL):c.1838G>A (p.Arg613Gln)
|
rs151035799
|
0.00074
|
NM_006393.3(NEBL):c.994G>A (p.Val332Ile)
|
rs150518045
|
0.00065
|
NM_006393.3(NEBL):c.2054C>T (p.Ala685Val)
|
rs146218038
|
0.00051
|
NM_006393.3(NEBL):c.1962+7A>G
|
rs371630900
|
0.00036
|
NM_006393.3(NEBL):c.908A>G (p.Glu303Gly)
|
rs139610204
|
0.00036
|
NM_006393.3(NEBL):c.827T>C (p.Met276Thr)
|
rs141285752
|
0.00033
|
NM_006393.3(NEBL):c.682C>G (p.Gln228Glu)
|
rs143644290
|
0.00030
|
NM_006393.3(NEBL):c.1449+14G>A
|
rs373699154
|
0.00022
|
NM_006393.3(NEBL):c.2673A>G (p.Thr891=)
|
rs202127185
|
0.00022
|
NM_006393.3(NEBL):c.2964C>T (p.Asp988=)
|
rs144946187
|
0.00022
|
NM_006393.3(NEBL):c.82-4A>G
|
rs368268112
|
0.00021
|
NM_006393.3(NEBL):c.2724A>T (p.Ser908=)
|
rs146673676
|
0.00019
|
NM_006393.3(NEBL):c.369+5G>A
|
rs200249470
|
0.00019
|
NM_006393.3(NEBL):c.69T>C (p.Asn23=)
|
rs746405718
|
0.00019
|
NM_006393.3(NEBL):c.2307T>C (p.Ala769=)
|
rs144815863
|
0.00018
|
NM_006393.3(NEBL):c.1302C>G (p.Ile434Met)
|
rs202112717
|
0.00016
|
NM_006393.3(NEBL):c.2775C>T (p.Pro925=)
|
rs199887353
|
0.00016
|
NM_006393.3(NEBL):c.240C>T (p.Ile80=)
|
rs727503337
|
0.00014
|
NM_006393.3(NEBL):c.2868+9C>T
|
rs377236750
|
0.00014
|
NM_006393.3(NEBL):c.489T>C (p.Tyr163=)
|
rs141153708
|
0.00014
|
NM_006393.3(NEBL):c.1008+14C>T
|
rs369037243
|
0.00012
|
NM_006393.3(NEBL):c.2650C>T (p.His884Tyr)
|
rs191259903
|
0.00011
|
NM_006393.3(NEBL):c.2889C>T (p.Tyr963=)
|
rs202184399
|
0.00009
|
NM_006393.3(NEBL):c.537A>G (p.Arg179=)
|
rs562815398
|
0.00009
|
NM_006393.3(NEBL):c.259-13T>G
|
rs923819811
|
0.00008
|
NM_006393.3(NEBL):c.1339-20T>C
|
rs370957821
|
0.00006
|
NM_006393.3(NEBL):c.1870G>C (p.Val624Leu)
|
rs186851083
|
0.00006
|
NM_006393.3(NEBL):c.1878C>T (p.Tyr626=)
|
rs551329782
|
0.00006
|
NM_006393.3(NEBL):c.1998G>A (p.Pro666=)
|
rs761798662
|
0.00006
|
NM_006393.3(NEBL):c.2055G>A (p.Ala685=)
|
rs746081261
|
0.00006
|
NM_006393.3(NEBL):c.2619G>A (p.Ala873=)
|
rs140803920
|
0.00006
|
NM_006393.3(NEBL):c.367G>A (p.Glu123Lys)
|
rs189440246
|
0.00006
|
NM_006393.3(NEBL):c.777T>G (p.Leu259=)
|
rs377624818
|
0.00006
|
NM_006393.3(NEBL):c.1671+12A>C
|
rs77445663
|
0.00005
|
NM_006393.3(NEBL):c.2055+7C>T
|
rs368793318
|
0.00005
|
NM_006393.3(NEBL):c.2346+19A>G
|
rs376097780
|
0.00005
|
NM_006393.3(NEBL):c.2406C>T (p.Asp802=)
|
rs748203517
|
0.00005
|
NM_006393.3(NEBL):c.259-8T>C
|
rs753391210
|
0.00005
|
NM_006393.3(NEBL):c.2748G>A (p.Pro916=)
|
rs778128527
|
0.00005
|
NM_006393.3(NEBL):c.2761+15C>T
|
rs760162209
|
0.00005
|
NM_006393.3(NEBL):c.720G>A (p.Lys240=)
|
rs746237029
|
0.00005
|
NM_006393.3(NEBL):c.792G>A (p.Ala264=)
|
rs375771045
|
0.00005
|
NM_006393.3(NEBL):c.1008+15G>A
|
rs375728589
|
0.00004
|
NM_006393.3(NEBL):c.1339-19_1339-18insC
|
rs762491132
|
0.00004
|
NM_006393.3(NEBL):c.1834G>A (p.Glu612Lys)
|
rs778658096
|
0.00004
|
NM_006393.3(NEBL):c.1893A>G (p.Lys631=)
|
rs532807680
|
0.00004
|
NM_006393.3(NEBL):c.2013G>A (p.Pro671=)
|
rs781677922
|
0.00004
|
NM_006393.3(NEBL):c.2190T>C (p.Ser730=)
|
rs371975934
|
0.00004
|
NM_006393.3(NEBL):c.2240C>T (p.Ser747Leu)
|
rs71578957
|
0.00004
|
NM_006393.3(NEBL):c.2347-9C>T
|
rs750957531
|
0.00004
|
NM_006393.3(NEBL):c.2518+14G>A
|
rs551568597
|
0.00004
|
NM_006393.3(NEBL):c.2703C>T (p.Ser901=)
|
rs374451899
|
0.00004
|
NM_006393.3(NEBL):c.2868+20G>A
|
rs780451303
|
0.00004
|
NM_006393.3(NEBL):c.2943C>T (p.Ile981=)
|
rs201105598
|
0.00004
|
NM_006393.3(NEBL):c.561G>C (p.Gln187His)
|
rs75301590
|
0.00004
|
NM_006393.3(NEBL):c.57G>C (p.Gly19=)
|
rs764290131
|
0.00004
|
NM_006393.3(NEBL):c.903+12A>G
|
rs745380674
|
0.00004
|
NM_006393.3(NEBL):c.1689A>G (p.Glu563=)
|
rs1423516014
|
0.00003
|
NM_006393.3(NEBL):c.1776+18C>G
|
rs373474665
|
0.00003
|
NM_006393.3(NEBL):c.1954A>C (p.Ile652Leu)
|
rs200756166
|
0.00003
|
NM_006393.3(NEBL):c.2149-11T>C
|
rs369297283
|
0.00003
|
NM_006393.3(NEBL):c.2149-17G>T
|
rs750555294
|
0.00003
|
NM_006393.3(NEBL):c.2206G>T (p.Glu736Ter)
|
rs780056247
|
0.00003
|
NM_006393.3(NEBL):c.2394T>C (p.Thr798=)
|
rs764897449
|
0.00003
|
NM_006393.3(NEBL):c.2667C>T (p.Phe889=)
|
rs780103943
|
0.00003
|
NM_006393.3(NEBL):c.498C>T (p.Asp166=)
|
rs371105861
|
0.00003
|
NM_006393.3(NEBL):c.81+8A>G
|
rs371780063
|
0.00003
|
NM_006393.3(NEBL):c.1978C>A (p.Gln660Lys)
|
rs11012351
|
0.00002
|
NM_006393.3(NEBL):c.2043G>A (p.Glu681=)
|
rs763968575
|
0.00002
|
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala)
|
rs780384504
|
0.00002
|
NM_006393.3(NEBL):c.2242-16A>G
|
rs757332145
|
0.00002
|
NM_006393.3(NEBL):c.2395C>T (p.Pro799Ser)
|
rs566320226
|
0.00002
|
NM_006393.3(NEBL):c.2397C>T (p.Pro799=)
|
rs766216481
|
0.00002
|
NM_006393.3(NEBL):c.2529T>G (p.Val843=)
|
rs199821922
|
0.00002
|
NM_006393.3(NEBL):c.2577C>T (p.Asp859=)
|
rs746553915
|
0.00002
|
NM_006393.3(NEBL):c.2757A>G (p.Glu919=)
|
rs878854903
|
0.00002
|
NM_006393.3(NEBL):c.2869-10C>G
|
rs373167913
|
0.00002
|
NM_006393.3(NEBL):c.82-16C>A
|
rs199531054
|
0.00002
|
NM_006393.3(NEBL):c.903+15T>C
|
rs770515409
|
0.00002
|
NM_006393.3(NEBL):c.978C>T (p.His326=)
|
rs1479545854
|
0.00002
|
NM_006393.3(NEBL):c.1074A>G (p.Pro358=)
|
rs1180113998
|
0.00001
|
NM_006393.3(NEBL):c.1346A>G (p.Tyr449Cys)
|
rs535927510
|
0.00001
|
NM_006393.3(NEBL):c.1449+8G>C
|
rs754000768
|
0.00001
|
NM_006393.3(NEBL):c.1560+10C>A
|
rs753190648
|
0.00001
|
NM_006393.3(NEBL):c.1560+15A>T
|
rs190353004
|
0.00001
|
NM_006393.3(NEBL):c.1632T>C (p.Asp544=)
|
rs1308048675
|
0.00001
|
NM_006393.3(NEBL):c.2016G>A (p.Glu672=)
|
rs757626106
|
0.00001
|
NM_006393.3(NEBL):c.2055+8G>A
|
rs747359685
|
0.00001
|
NM_006393.3(NEBL):c.2232T>C (p.Asn744=)
|
rs1588672485
|
0.00001
|
NM_006393.3(NEBL):c.2451C>T (p.Ser817=)
|
rs375714953
|
0.00001
|
NM_006393.3(NEBL):c.2518+10C>T
|
rs747607700
|
0.00001
|
NM_006393.3(NEBL):c.2547C>T (p.Gly849=)
|
rs180850975
|
0.00001
|
NM_006393.3(NEBL):c.2607C>G (p.Leu869=)
|
rs773544548
|
0.00001
|
NM_006393.3(NEBL):c.2679C>T (p.Leu893=)
|
rs1437022892
|
0.00001
|
NM_006393.3(NEBL):c.2868+19C>T
|
rs41277364
|
0.00001
|
NM_006393.3(NEBL):c.2869-15T>A
|
rs746451058
|
0.00001
|
NM_006393.3(NEBL):c.2869-16C>T
|
rs192193707
|
0.00001
|
NM_006393.3(NEBL):c.2931C>T (p.Asp977=)
|
rs375982678
|
0.00001
|
NM_006393.3(NEBL):c.300T>C (p.Ser100=)
|
rs747440079
|
0.00001
|
NM_006393.3(NEBL):c.360C>T (p.Leu120=)
|
rs1253834442
|
0.00001
|
NM_006393.3(NEBL):c.435C>T (p.Pro145=)
|
rs202130632
|
0.00001
|
NM_006393.3(NEBL):c.438T>C (p.Pro146=)
|
rs780880217
|
0.00001
|
NM_006393.3(NEBL):c.450T>C (p.His150=)
|
rs1291636433
|
0.00001
|
NM_006393.3(NEBL):c.516G>A (p.Thr172=)
|
rs143962290
|
0.00001
|
NM_006393.3(NEBL):c.534C>T (p.Asp178=)
|
rs374344424
|
0.00001
|
NM_006393.3(NEBL):c.583-15A>G
|
rs561521823
|
0.00001
|
NM_006393.3(NEBL):c.591C>T (p.Tyr197=)
|
rs773877708
|
0.00001
|
NM_006393.3(NEBL):c.738C>T (p.Tyr246=)
|
rs778455217
|
0.00001
|
NM_006393.3(NEBL):c.837A>G (p.Pro279=)
|
rs1211641825
|
0.00001
|
NM_006393.3(NEBL):c.903+18C>T
|
rs993846016
|
0.00001
|
NM_006393.3(NEBL):c.921C>A (p.Leu307=)
|
rs369291648
|
0.00001
|
NM_006393.3(NEBL):c.96T>C (p.Pro32=)
|
rs1210614574
|
0.00001
|
NM_006393.3(NEBL):c.972T>C (p.His324=)
|
rs764659096
|
0.00001
|
NM_006393.3(NEBL):c.1008+4_1008+5inv
|
|
|
NM_006393.3(NEBL):c.1008+8C>T
|
rs376842299
|
|
NM_006393.3(NEBL):c.1009-10T>C
|
rs1842402338
|
|
NM_006393.3(NEBL):c.1117-17G>T
|
|
|
NM_006393.3(NEBL):c.1119A>G (p.Lys373=)
|
rs1381516485
|
|
NM_006393.3(NEBL):c.1125C>T (p.Tyr375=)
|
|
|
NM_006393.3(NEBL):c.1221G>A (p.Leu407=)
|
rs2131006177
|
|
NM_006393.3(NEBL):c.1228-13T>A
|
rs2130972710
|
|
NM_006393.3(NEBL):c.1228-4A>G
|
|
|
NM_006393.3(NEBL):c.1228-6_1228-5del
|
|
|
NM_006393.3(NEBL):c.1269A>G (p.Lys423=)
|
rs138932199
|
|
NM_006393.3(NEBL):c.1308A>G (p.Arg436=)
|
|
|
NM_006393.3(NEBL):c.1338+19C>T
|
rs2130970836
|
|
NM_006393.3(NEBL):c.1434A>G (p.Ala478=)
|
rs2130934253
|
|
NM_006393.3(NEBL):c.1450-11A>G
|
rs749398135
|
|
NM_006393.3(NEBL):c.1450-18A>T
|
|
|
NM_006393.3(NEBL):c.1450-4G>A
|
rs756328675
|
|
NM_006393.3(NEBL):c.1473G>A (p.Glu491=)
|
|
|
NM_006393.3(NEBL):c.1491A>G (p.Lys497=)
|
|
|
NM_006393.3(NEBL):c.150C>T (p.Ser50=)
|
rs1465019438
|
|
NM_006393.3(NEBL):c.153+12G>T
|
rs761120845
|
|
NM_006393.3(NEBL):c.153+8G>C
|
rs1588971724
|
|
NM_006393.3(NEBL):c.1533T>G (p.Ala511=)
|
|
|
NM_006393.3(NEBL):c.1536G>A (p.Lys512=)
|
|
|
NM_006393.3(NEBL):c.154-13T>G
|
|
|
NM_006393.3(NEBL):c.1545C>T (p.Ser515=)
|
|
|
NM_006393.3(NEBL):c.1560+18T>A
|
rs1210297527
|
|
NM_006393.3(NEBL):c.1560+18T>C
|
|
|
NM_006393.3(NEBL):c.1560+7C>G
|
|
|
NM_006393.3(NEBL):c.1560+9G>A
|
|
|
NM_006393.3(NEBL):c.1561-12C>A
|
|
|
NM_006393.3(NEBL):c.1561-5T>C
|
|
|
NM_006393.3(NEBL):c.1566A>G (p.Gln522=)
|
|
|
NM_006393.3(NEBL):c.1614G>A (p.Val538=)
|
rs1840384699
|
|
NM_006393.3(NEBL):c.1671+18A>G
|
|
|
NM_006393.3(NEBL):c.1671+20G>A
|
|
|
NM_006393.3(NEBL):c.1672-15T>C
|
|
|
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu)
|
rs146275785
|
|
NM_006393.3(NEBL):c.1777-19T>A
|
|
|
NM_006393.3(NEBL):c.1777-19T>C
|
|
|
NM_006393.3(NEBL):c.1785T>C (p.Tyr595=)
|
|
|
NM_006393.3(NEBL):c.1803T>C (p.Ala601=)
|
rs2130874098
|
|
NM_006393.3(NEBL):c.1821T>C (p.Asp607=)
|
|
|
NM_006393.3(NEBL):c.1833C>T (p.Ile611=)
|
|
|
NM_006393.3(NEBL):c.1860T>C (p.Asn620=)
|
|
|
NM_006393.3(NEBL):c.1869+10C>G
|
|
|
NM_006393.3(NEBL):c.1869+11T>C
|
|
|
NM_006393.3(NEBL):c.1869+16C>A
|
rs758601320
|
|
NM_006393.3(NEBL):c.1870-19A>G
|
|
|
NM_006393.3(NEBL):c.1870-20T>G
|
|
|
NM_006393.3(NEBL):c.1872G>A (p.Val624=)
|
|
|
NM_006393.3(NEBL):c.1953C>T (p.Asn651=)
|
rs1180920699
|
|
NM_006393.3(NEBL):c.1962+10T>A
|
|
|
NM_006393.3(NEBL):c.1963-18T>C
|
rs2130828306
|
|
NM_006393.3(NEBL):c.1963-7C>G
|
|
|
NM_006393.3(NEBL):c.1965C>G (p.Leu655=)
|
|
|
NM_006393.3(NEBL):c.198A>C (p.Thr66=)
|
|
|
NM_006393.3(NEBL):c.2055+12_2055+13del
|
|
|
NM_006393.3(NEBL):c.2055+15T>C
|
rs2130827080
|
|
NM_006393.3(NEBL):c.2055+7C>A
|
rs368793318
|
|
NM_006393.3(NEBL):c.2196T>G (p.Thr732=)
|
|
|
NM_006393.3(NEBL):c.21G>A (p.Glu7=)
|
rs1767961581
|
|
NM_006393.3(NEBL):c.2241+18T>C
|
|
|
NM_006393.3(NEBL):c.2242-4G>T
|
|
|
NM_006393.3(NEBL):c.2289G>C (p.Leu763=)
|
rs1196603745
|
|
NM_006393.3(NEBL):c.2301A>T (p.Thr767=)
|
|
|
NM_006393.3(NEBL):c.2346+18C>A
|
|
|
NM_006393.3(NEBL):c.2347-18T>C
|
rs2130788646
|
|
NM_006393.3(NEBL):c.2364T>C (p.Asp788=)
|
rs1838317526
|
|
NM_006393.3(NEBL):c.2418A>G (p.Thr806=)
|
rs2130787886
|
|
NM_006393.3(NEBL):c.2433G>A (p.Lys811=)
|
|
|
NM_006393.3(NEBL):c.2439C>A (p.Thr813=)
|
rs757884238
|
|
NM_006393.3(NEBL):c.2448C>T (p.Val816=)
|
|
|
NM_006393.3(NEBL):c.2475C>T (p.His825=)
|
rs727503334
|
|
NM_006393.3(NEBL):c.2511C>T (p.Ile837=)
|
|
|
NM_006393.3(NEBL):c.2518+10C>A
|
rs747607700
|
|
NM_006393.3(NEBL):c.2518+13C>T
|
|
|
NM_006393.3(NEBL):c.259-10T>C
|
|
|
NM_006393.3(NEBL):c.259-19C>G
|
|
|
NM_006393.3(NEBL):c.259-6_259-5insT
|
|
|
NM_006393.3(NEBL):c.259-7C>T
|
|
|
NM_006393.3(NEBL):c.2607C>T (p.Leu869=)
|
rs773544548
|
|
NM_006393.3(NEBL):c.2611+20T>C
|
|
|
NM_006393.3(NEBL):c.2611+7C>T
|
rs2130768866
|
|
NM_006393.3(NEBL):c.2611+8T>G
|
rs2130768850
|
|
NM_006393.3(NEBL):c.2643T>C (p.Ser881=)
|
|
|
NM_006393.3(NEBL):c.2682A>G (p.Gly894=)
|
rs1334949712
|
|
NM_006393.3(NEBL):c.2814C>T (p.Tyr938=)
|
|
|
NM_006393.3(NEBL):c.2823G>A (p.Gln941=)
|
|
|
NM_006393.3(NEBL):c.2847A>T (p.Ser949=)
|
rs1060504994
|
|
NM_006393.3(NEBL):c.2868+11A>C
|
rs2131618868
|
|
NM_006393.3(NEBL):c.2869-9C>T
|
|
|
NM_006393.3(NEBL):c.2895C>T (p.Tyr965=)
|
rs2131613989
|
|
NM_006393.3(NEBL):c.2934C>T (p.Gly978=)
|
|
|
NM_006393.3(NEBL):c.2943C>A (p.Ile981=)
|
|
|
NM_006393.3(NEBL):c.2949C>T (p.Asn983=)
|
|
|
NM_006393.3(NEBL):c.2979C>T (p.Tyr993=)
|
|
|
NM_006393.3(NEBL):c.2985A>G (p.Thr995=)
|
rs534621300
|
|
NM_006393.3(NEBL):c.3036T>C (p.Phe1012=)
|
|
|
NM_006393.3(NEBL):c.312G>T (p.Arg104=)
|
|
|
NM_006393.3(NEBL):c.327T>C (p.Ile109=)
|
|
|
NM_006393.3(NEBL):c.369+12C>T
|
|
|
NM_006393.3(NEBL):c.370-10T>C
|
|
|
NM_006393.3(NEBL):c.370-19A>C
|
|
|
NM_006393.3(NEBL):c.383A>T (p.Gln128Leu)
|
rs139809958
|
|
NM_006393.3(NEBL):c.390T>C (p.His130=)
|
rs1462163062
|
|
NM_006393.3(NEBL):c.405A>C (p.Gly135=)
|
rs1588924846
|
|
NM_006393.3(NEBL):c.408C>T (p.Phe136=)
|
|
|
NM_006393.3(NEBL):c.480+10C>A
|
rs377230358
|
|
NM_006393.3(NEBL):c.480+10C>T
|
rs377230358
|
|
NM_006393.3(NEBL):c.480+9G>A
|
rs2131315618
|
|
NM_006393.3(NEBL):c.481-10C>T
|
|
|
NM_006393.3(NEBL):c.481-18A>T
|
|
|
NM_006393.3(NEBL):c.481-6G>A
|
rs1286250524
|
|
NM_006393.3(NEBL):c.528A>G (p.Glu176=)
|
|
|
NM_006393.3(NEBL):c.540A>G (p.Pro180=)
|
rs2131238828
|
|
NM_006393.3(NEBL):c.558C>A (p.Thr186=)
|
rs1844724636
|
|
NM_006393.3(NEBL):c.582+14C>T
|
|
|
NM_006393.3(NEBL):c.582+15T>C
|
|
|
NM_006393.3(NEBL):c.685-11T>C
|
|
|
NM_006393.3(NEBL):c.685-15T>G
|
|
|
NM_006393.3(NEBL):c.711T>C (p.Asn237=)
|
rs2131147146
|
|
NM_006393.3(NEBL):c.798+12T>A
|
|
|
NM_006393.3(NEBL):c.798+14C>T
|
rs968358305
|
|
NM_006393.3(NEBL):c.798+17A>G
|
rs1021328811
|
|
NM_006393.3(NEBL):c.799-12T>C
|
|
|
NM_006393.3(NEBL):c.799-15A>C
|
|
|
NM_006393.3(NEBL):c.81+16_81+17del
|
rs2131413510
|
|
NM_006393.3(NEBL):c.81+18_81+23del
|
|
|
NM_006393.3(NEBL):c.81+20C>T
|
|
|
NM_006393.3(NEBL):c.82-15T>C
|
rs2131413042
|
|
NM_006393.3(NEBL):c.822A>G (p.Gln274=)
|
|
|
NM_006393.3(NEBL):c.870C>T (p.Asp290=)
|
rs1843296570
|
|
NM_006393.3(NEBL):c.903+13T>A
|
rs780937421
|
|
NM_006393.3(NEBL):c.903+18C>A
|
|
|