NM_001006658.3(CR2):c.2611G>T (p.Val871Leu)
|
rs144572703
|
0.00319
|
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.2654G>A (p.Arg885His)
|
rs140808707
|
0.00061
|
NM_001006658.3(CR2):c.1676G>A (p.Gly559Glu)
|
rs143614333
|
0.00058
|
NM_001006658.3(CR2):c.2146C>T (p.Arg716Trp)
|
rs144014118
|
0.00041
|
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.3188+13G>A
|
rs199895961
|
0.00027
|
NM_001006658.3(CR2):c.641G>A (p.Arg214His)
|
rs141831783
|
0.00025
|
NM_001006658.3(CR2):c.3033G>C (p.Gln1011His)
|
rs200182370
|
0.00021
|
NM_001006658.3(CR2):c.2496C>T (p.Ser832=)
|
rs139322251
|
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.59-10T>C
|
rs371075381
|
0.00010
|
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.3048G>A (p.Ser1016=)
|
rs145934194
|
0.00008
|
NM_001006658.3(CR2):c.3243A>G (p.Glu1081=)
|
rs371956919
|
0.00008
|
NM_001006658.3(CR2):c.763C>A (p.Arg255=)
|
rs61754519
|
0.00008
|
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.1570+20T>C
|
rs765124055
|
0.00006
|
NM_001006658.3(CR2):c.2358T>C (p.Asn786=)
|
rs200764424
|
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.1402+8G>A
|
rs748950155
|
0.00005
|
NM_001006658.3(CR2):c.21C>T (p.Leu7=)
|
rs779365020
|
0.00005
|
NM_001006658.3(CR2):c.2529T>C (p.Pro843=)
|
rs765301217
|
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.1410G>A (p.Ala470=)
|
rs565317532
|
0.00004
|
NM_001006658.3(CR2):c.3090T>C (p.Arg1030=)
|
rs771520863
|
0.00004
|
NM_001006658.3(CR2):c.639A>G (p.Ala213=)
|
rs766392071
|
0.00004
|
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.2156-16A>C
|
rs777216094
|
0.00003
|
NM_001006658.3(CR2):c.621C>T (p.Pro207=)
|
rs573346582
|
0.00003
|
NM_001006658.3(CR2):c.1425A>G (p.Gly475=)
|
rs753628062
|
0.00002
|
NM_001006658.3(CR2):c.1965A>G (p.Pro655=)
|
rs772865066
|
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.3057A>G (p.Gln1019=)
|
rs143091851
|
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.1274A>T (p.His425Leu)
|
rs565397037
|
0.00001
|
NM_001006658.3(CR2):c.1493+11G>A
|
rs375667838
|
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.1650C>T (p.Thr550=)
|
rs369914899
|
0.00001
|
NM_001006658.3(CR2):c.1788C>T (p.Ser596=)
|
rs745752930
|
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.2064C>T (p.Tyr688=)
|
rs377320082
|
0.00001
|
NM_001006658.3(CR2):c.2160A>G (p.Thr720=)
|
rs1489879720
|
0.00001
|
NM_001006658.3(CR2):c.2240+17C>G
|
rs1382894694
|
0.00001
|
NM_001006658.3(CR2):c.2324-17C>T
|
rs944912892
|
0.00001
|
NM_001006658.3(CR2):c.2538C>T (p.Arg846=)
|
rs113054614
|
0.00001
|
NM_001006658.3(CR2):c.2655C>T (p.Arg885=)
|
rs754951032
|
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.2829C>T (p.Tyr943=)
|
rs549779335
|
0.00001
|
NM_001006658.3(CR2):c.3088+16T>C
|
rs771573990
|
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.3261A>G (p.Pro1087=)
|
rs374978382
|
0.00001
|
NM_001006658.3(CR2):c.327A>G (p.Arg109=)
|
rs1185549545
|
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+9G>C
|
rs532787805
|
0.00001
|
NM_001006658.3(CR2):c.59-12T>G
|
rs1439342810
|
0.00001
|
NM_001006658.3(CR2):c.612T>C (p.Ser204=)
|
rs746566723
|
0.00001
|
NM_001006658.3(CR2):c.635-8T>G
|
rs199889815
|
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.789T>C (p.Val263=)
|
rs765852435
|
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.1236C>A (p.Ala412=)
|
|
|
NM_001006658.3(CR2):c.1236C>G (p.Ala412=)
|
|
|
NM_001006658.3(CR2):c.1295G>A (p.Gly432Glu)
|
rs781255614
|
|
NM_001006658.3(CR2):c.1389A>G (p.Val463=)
|
|
|
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.1403-17C>G
|
|
|
NM_001006658.3(CR2):c.1410G>C (p.Ala470=)
|
rs565317532
|
|
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.1524G>A (p.Glu508=)
|
|
|
NM_001006658.3(CR2):c.156A>G (p.Ser52=)
|
|
|
NM_001006658.3(CR2):c.1570+17A>T
|
|
|
NM_001006658.3(CR2):c.1571-11C>A
|
|
|
NM_001006658.3(CR2):c.1571-16C>A
|
|
|
NM_001006658.3(CR2):c.1605T>C (p.Asn535=)
|
rs2102305708
|
|
NM_001006658.3(CR2):c.1653G>A (p.Thr551=)
|
rs373293174
|
|
NM_001006658.3(CR2):c.1653G>T (p.Thr551=)
|
|
|
NM_001006658.3(CR2):c.1665A>T (p.Thr555=)
|
rs780877690
|
|
NM_001006658.3(CR2):c.168C>T (p.Arg56=)
|
rs2102300615
|
|
NM_001006658.3(CR2):c.1716C>T (p.Ser572=)
|
|
|
NM_001006658.3(CR2):c.1773C>T (p.Pro591=)
|
rs568507355
|
|
NM_001006658.3(CR2):c.1857A>G (p.Pro619=)
|
|
|
NM_001006658.3(CR2):c.189A>G (p.Leu63=)
|
rs34486455
|
|
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.2019A>G (p.Thr673=)
|
|
|
NM_001006658.3(CR2):c.2043C>T (p.Val681=)
|
rs1205385876
|
|
NM_001006658.3(CR2):c.2067T>C (p.Thr689=)
|
rs2102306483
|
|
NM_001006658.3(CR2):c.2127T>C (p.Asn709=)
|
rs762537434
|
|
NM_001006658.3(CR2):c.213G>A (p.Val71=)
|
|
|
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.2166G>A (p.Gln722=)
|
rs2102306635
|
|
NM_001006658.3(CR2):c.2175A>G (p.Arg725=)
|
|
|
NM_001006658.3(CR2):c.2211G>A (p.Val737=)
|
|
|
NM_001006658.3(CR2):c.2223T>C (p.Asn741=)
|
|
|
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+8T>G
|
|
|
NM_001006658.3(CR2):c.2250G>A (p.Leu750=)
|
|
|
NM_001006658.3(CR2):c.2280T>C (p.Asp760=)
|
|
|
NM_001006658.3(CR2):c.231A>G (p.Lys77=)
|
rs2102300686
|
|
NM_001006658.3(CR2):c.2323+16T>C
|
|
|
NM_001006658.3(CR2):c.2323+18A>G
|
rs2102307081
|
|
NM_001006658.3(CR2):c.2324-18C>T
|
|
|
NM_001006658.3(CR2):c.2324-19C>T
|
|
|
NM_001006658.3(CR2):c.237T>C (p.Ala79=)
|
|
|
NM_001006658.3(CR2):c.2394A>G (p.Leu798=)
|
|
|
NM_001006658.3(CR2):c.2394A>T (p.Leu798=)
|
|
|
NM_001006658.3(CR2):c.2397T>C (p.Tyr799=)
|
|
|
NM_001006658.3(CR2):c.2472T>C (p.Asp824=)
|
rs1223916481
|
|
NM_001006658.3(CR2):c.2487A>G (p.Gly829=)
|
|
|
NM_001006658.3(CR2):c.2499G>T (p.Gly833=)
|
|
|
NM_001006658.3(CR2):c.249A>G (p.Glu83=)
|
rs749360324
|
|
NM_001006658.3(CR2):c.2571G>A (p.Lys857=)
|
|
|
NM_001006658.3(CR2):c.2607C>T (p.Asp869=)
|
|
|
NM_001006658.3(CR2):c.2613G>A (p.Val871=)
|
rs2102307689
|
|
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+9C>T
|
|
|
NM_001006658.3(CR2):c.2805C>T (p.Ile935=)
|
|
|
NM_001006658.3(CR2):c.3045A>G (p.Gln1015=)
|
|
|
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.3102T>C (p.Pro1034=)
|
|
|
NM_001006658.3(CR2):c.3113-14G>C
|
|
|
NM_001006658.3(CR2):c.3147G>A (p.Leu1049=)
|
|
|
NM_001006658.3(CR2):c.3188+18T>C
|
rs1422889749
|
|
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.3207A>G (p.Thr1069=)
|
|
|
NM_001006658.3(CR2):c.3210C>T (p.Ser1070=)
|
|
|
NM_001006658.3(CR2):c.3246A>C (p.Val1082=)
|
|
|
NM_001006658.3(CR2):c.3267C>T (p.Asn1089=)
|
rs1277361561
|
|
NM_001006658.3(CR2):c.3270A>G (p.Pro1090=)
|
|
|
NM_001006658.3(CR2):c.369C>T (p.Ser123=)
|
|
|
NM_001006658.3(CR2):c.381C>T (p.Asn127=)
|
rs2102300831
|
|
NM_001006658.3(CR2):c.39C>G (p.Leu13=)
|
|
|
NM_001006658.3(CR2):c.417G>A (p.Gly139=)
|
|
|
NM_001006658.3(CR2):c.420G>A (p.Pro140=)
|
|
|
NM_001006658.3(CR2):c.42C>T (p.Val14=)
|
|
|
NM_001006658.3(CR2):c.435C>T (p.Thr145=)
|
rs2102300887
|
|
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.492T>C (p.His164=)
|
|
|
NM_001006658.3(CR2):c.504G>A (p.Glu168=)
|
|
|
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.58+12G>C
|
rs1572942436
|
|
NM_001006658.3(CR2):c.58+13G>T
|
|
|
NM_001006658.3(CR2):c.59-13T>C
|
|
|
NM_001006658.3(CR2):c.59-17C>T
|
rs1658101421
|
|
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.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.765G>T (p.Arg255=)
|
|
|
NM_001006658.3(CR2):c.768T>C (p.Cys256=)
|
|
|
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.9C>T (p.Ala3=)
|
|
|