NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)
|
rs6710212
|
0.97529
|
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)
|
rs6735208
|
0.69255
|
NM_001164508.2(NEB):c.771T>C (p.Ala257=)
|
rs4611637
|
0.68008
|
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)
|
rs2288210
|
0.66332
|
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)
|
rs7426114
|
0.66326
|
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)
|
rs6709886
|
0.62301
|
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)
|
rs13013209
|
0.34676
|
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)
|
rs6713162
|
0.31314
|
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)
|
rs10170273
|
0.30371
|
NM_001164508.2(NEB):c.6807+6T>G
|
rs10930723
|
0.29833
|
NM_001164508.2(NEB):c.16705-18C>T
|
rs61254943
|
0.26527
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)
|
rs2288211
|
0.24726
|
NM_001164508.2(NEB):c.11077-19T>C
|
rs4303716
|
0.21438
|
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)
|
rs34577613
|
0.20341
|
NM_001164508.2(NEB):c.3901= (p.Tyr1301=)
|
rs6711382
|
0.18897
|
NM_001164508.2(NEB):c.3879+20G>T
|
rs12618063
|
0.17493
|
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)
|
rs33988153
|
0.17490
|
NM_001164508.2(NEB):c.2944-9G>A
|
rs13427102
|
0.10205
|
NM_001164508.2(NEB):c.6184-14T>A
|
rs10173335
|
0.09664
|
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=)
|
rs6717213
|
0.08304
|
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)
|
rs75807392
|
0.04908
|
NM_001164508.2(NEB):c.19102-6C>T
|
rs145127681
|
0.03008
|
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp)
|
rs34800215
|
0.02813
|
NM_001164508.2(NEB):c.19732-6C>T
|
rs11894996
|
0.02589
|
NM_001164508.2(NEB):c.612+8T>C
|
rs113095802
|
0.02379
|
NM_001164508.2(NEB):c.8466C>T (p.His2822=)
|
rs61730771
|
0.02236
|
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln)
|
rs61730780
|
0.02113
|
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln)
|
rs35974308
|
0.01764
|
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)
|
rs35686968
|
0.01624
|
NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)
|
rs35740585
|
0.01429
|
NM_001164508.2(NEB):c.195G>A (p.Pro65=)
|
rs79524813
|
0.01367
|
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)
|
rs34555492
|
0.01234
|
NM_001164508.2(NEB):c.3775-6T>C
|
rs80232472
|
0.01222
|
NM_001164508.2(NEB):c.3147+5G>A
|
rs74859201
|
0.01118
|
NM_001164508.2(NEB):c.5763+4C>T
|
rs78916288
|
0.01075
|
NM_001164508.2(NEB):c.8995-14T>C
|
rs79875240
|
0.00977
|
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=)
|
rs145252235
|
0.00972
|
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=)
|
rs147569843
|
0.00870
|
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=)
|
rs145052299
|
0.00870
|
NM_001164508.2(NEB):c.10347+6C>T
|
rs141088433
|
0.00870
|
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly)
|
rs76767949
|
0.00646
|
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His)
|
rs34532796
|
0.00550
|
NM_001164508.2(NEB):c.17304G>A (p.Leu5768=)
|
rs35273905
|
0.00526
|
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=)
|
rs141338915
|
0.00448
|
NM_001164508.2(NEB):c.12147G>A (p.Lys4049=)
|
rs149639365
|
0.00441
|
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala)
|
rs117271684
|
0.00348
|
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp)
|
rs117048449
|
0.00346
|
NM_001164508.2(NEB):c.10452+9A>G
|
rs117270796
|
0.00190
|
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=)
|
rs117018177
|
0.00190
|
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)
|
rs149881695
|
0.00187
|
NM_001164508.2(NEB):c.18579+6T>C
|
rs116189169
|
0.00180
|
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val)
|
rs143933602
|
0.00162
|
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)
|
rs36105240
|
0.00148
|
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg)
|
rs189623595
|
0.00125
|
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn)
|
rs192098032
|
0.00081
|
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu)
|
rs192117840
|
0.00071
|
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys)
|
rs189553632
|
0.00071
|
NM_001164508.2(NEB):c.4720-18C>T
|
rs79402065
|
0.00071
|
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp)
|
rs77994592
|
0.00065
|
NM_001164508.2(NEB):c.14869T>A (p.Tyr4957Asn)
|
rs756192566
|
0.00055
|
NM_001164508.2(NEB):c.984C>T (p.Thr328=)
|
rs199969138
|
0.00052
|
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu)
|
rs185496567
|
0.00034
|
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile)
|
rs370053963
|
0.00026
|
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg)
|
rs371568550
|
0.00013
|
NM_001164508.2(NEB):c.2639G>A (p.Arg880His)
|
rs202026890
|
0.00013
|
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val)
|
rs149384863
|
0.00012
|
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys)
|
rs527250558
|
0.00011
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
NM_001164508.2(NEB):c.1152+5G>A
|
rs111404077
|
0.00009
|
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)
|
rs375909006
|
0.00009
|
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser)
|
rs751724804
|
0.00008
|
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys)
|
rs547231033
|
0.00007
|
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His)
|
rs556930902
|
0.00006
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001164508.2(NEB):c.5301G>A (p.Pro1767=)
|
rs150496369
|
0.00006
|
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly)
|
rs149430473
|
0.00006
|
NM_001164508.2(NEB):c.78+6G>A
|
rs376085885
|
0.00006
|
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln)
|
rs557950249
|
0.00006
|
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys)
|
rs369875205
|
0.00005
|
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp)
|
rs533233215
|
0.00004
|
NM_001164508.2(NEB):c.255C>T (p.Tyr85=)
|
rs375749306
|
0.00004
|
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg)
|
rs760903716
|
0.00004
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001164508.2(NEB):c.19101+4C>T
|
rs778716460
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001164508.2(NEB):c.21076C>T (p.Arg7026Ter)
|
rs769345284
|
0.00003
|
NM_001164508.2(NEB):c.20342G>A (p.Arg6781His)
|
rs752285938
|
0.00002
|
NM_001164508.2(NEB):c.10418T>A (p.Met3473Lys)
|
rs1199616055
|
0.00001
|
NM_001164508.2(NEB):c.11164C>T (p.Arg3722Ter)
|
rs928945364
|
0.00001
|
NM_001164508.2(NEB):c.1152+1G>A
|
rs398124167
|
0.00001
|
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly)
|
rs1255744452
|
0.00001
|
NM_001164508.2(NEB):c.17118+1G>A
|
rs747946275
|
0.00001
|
NM_001164508.2(NEB):c.17179A>G (p.Arg5727Gly)
|
rs1165026867
|
0.00001
|
NM_001164508.2(NEB):c.17634+5G>A
|
rs749700121
|
0.00001
|
NM_001164508.2(NEB):c.1849del (p.Asp617fs)
|
rs755531536
|
0.00001
|
NM_001164508.2(NEB):c.18676C>T (p.Gln6226Ter)
|
rs1475648900
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg)
|
rs201071685
|
0.00001
|
NM_001164508.2(NEB):c.20113G>A (p.Val6705Ile)
|
rs774095156
|
0.00001
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
NM_001164508.2(NEB):c.2784del (p.Asp929fs)
|
rs786204430
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.2943+1G>A
|
rs113091511
|
0.00001
|
NM_001164508.2(NEB):c.3775-22T>C
|
rs748941455
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.4299+9G>A
|
rs746505680
|
0.00001
|
NM_001164508.2(NEB):c.6478A>T (p.Asn2160Tyr)
|
rs2099084057
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe)
|
rs750548574
|
0.00001
|
NM_001164508.2(NEB):c.8791A>G (p.Lys2931Glu)
|
rs1049915348
|
0.00001
|
NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
|
|
|
NC_000002.11:g.(152501090_152502643)_(152502749_152506689)del
|
|
|
NM_001164508.2(NEB):c.10175G>A (p.Arg3392Lys)
|
rs2154058460
|
|
NM_001164508.2(NEB):c.1035+1G>A
|
|
|
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
|
|
|
NM_001164508.2(NEB):c.1051G>A (p.Asp351Asn)
|
rs2149873825
|
|
NM_001164508.2(NEB):c.10775G>A (p.Ser3592Asn)
|
rs2154022323
|
|
NM_001164508.2(NEB):c.11038C>T (p.Gln3680Ter)
|
|
|
NM_001164508.2(NEB):c.11326C>G (p.His3776Asp)
|
rs770398302
|
|
NM_001164508.2(NEB):c.1152+1G>T
|
rs398124167
|
|
NM_001164508.2(NEB):c.11601+6T>A
|
|
|
NM_001164508.2(NEB):c.11870A>G (p.Asp3957Gly)
|
rs766565558
|
|
NM_001164508.2(NEB):c.14827-2A>C
|
|
|
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1])
|
rs377452683
|
|
NM_001164508.2(NEB):c.1623del (p.Asp542fs)
|
rs772366030
|
|
NM_001164508.2(NEB):c.16704+1G>A
|
rs1227806763
|
|
NM_001164508.2(NEB):c.16910_16911inv (p.Pro5637Leu)
|
|
|
NM_001164508.2(NEB):c.17827A>G (p.Asn5943Asp)
|
rs1380251124
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
NM_001164508.2(NEB):c.18693+4A>C
|
|
|
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
|
|
|
NM_001164508.2(NEB):c.18820C>T (p.His6274Tyr)
|
rs2153711522
|
|
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter)
|
rs1559952676
|
|
NM_001164508.2(NEB):c.19097G>T (p.Ser6366Ile)
|
rs191579691
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn)
|
rs796065338
|
|
NM_001164508.2(NEB):c.19428+16C>T
|
rs1022784479
|
|
NM_001164508.2(NEB):c.20157+5C>T
|
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)
|
rs1559680233
|
|
NM_001164508.2(NEB):c.21141del (p.Ile7047fs)
|
rs2093339890
|
|
NM_001164508.2(NEB):c.2310+5G>A
|
|
|
NM_001164508.2(NEB):c.2415+1G>A
|
rs1057524581
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
NM_001164508.2(NEB):c.3255+1G>T
|
rs375628303
|
|
NM_001164508.2(NEB):c.3473_3488del (p.Asn1158fs)
|
rs1463906422
|
|
NM_001164508.2(NEB):c.36+4A>G
|
|
|
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg)
|
rs765671775
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.3987+1_3987+2delinsTG
|
rs786204576
|
|
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
NM_001164508.2(NEB):c.4396G>A (p.Ala1466Thr)
|
rs2099279944
|
|
NM_001164508.2(NEB):c.5246A>G (p.Tyr1749Cys)
|
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
NM_001164508.2(NEB):c.5849A>C (p.Lys1950Thr)
|
rs758655350
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn)
|
rs2099075647
|
|
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala)
|
rs1558825869
|
|
NM_001164508.2(NEB):c.734del (p.Gly245fs)
|
rs1559573882
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
|
|
|
NM_001164508.2(NEB):c.8031_8041del (p.Lys2677fs)
|
rs398124172
|
|
NM_001164508.2(NEB):c.8994+5G>A
|
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn)
|
rs145770770
|
|