|
NM_000116.5(TAFAZZIN):c.110-17=
|
rs62617809
|
0.99999
|
|
NM_003664.5(AP3B1):c.1754T>A (p.Val585Glu)
|
rs6453373
|
0.91917
|
|
NM_005263.5(GFI1):c.465C>T (p.Cys155=)
|
rs11164605
|
0.84576
|
|
NM_152564.5(VPS13B):c.1206+33T>G
|
rs7460625
|
0.73774
|
|
NM_032492.4(JAGN1):c.96T>C (p.Thr32=)
|
rs279553
|
0.69356
|
|
NM_024598.4(USB1):c.99-36G>A
|
rs3743560
|
0.60216
|
|
NM_000760.4(CSF3R):c.1260T>C (p.Thr420=)
|
rs3917981
|
0.59625
|
|
NM_000081.4(LYST):c.1251A>G (p.Gln417=)
|
rs1063128
|
0.41864
|
|
NM_000081.4(LYST):c.1683A>G (p.Leu561=)
|
rs3820553
|
0.41844
|
|
NM_000081.4(LYST):c.4956A>G (p.Leu1652=)
|
rs6696123
|
0.41826
|
|
NM_000081.4(LYST):c.5373G>A (p.Lys1791=)
|
rs2273584
|
0.41769
|
|
NM_138387.4(G6PC3):c.-129C>T
|
rs228758
|
0.36841
|
|
NM_183235.3(RAB27A):c.*1926T>A
|
rs8028801
|
0.33811
|
|
NM_183235.3(RAB27A):c.*852C>T
|
rs3179664
|
0.33294
|
|
NM_000760.4(CSF3R):c.1254T>C (p.Arg418=)
|
rs3917980
|
0.28603
|
|
NM_183235.3(RAB27A):c.*1931T>C
|
rs6493770
|
0.27860
|
|
NM_183235.3(RAB27A):c.*14C>T
|
rs1050931
|
0.27464
|
|
NM_183235.3(RAB27A):c.*1662A>T
|
rs1061823
|
0.27450
|
|
NM_183235.3(RAB27A):c.*936C>A
|
rs1061870
|
0.27449
|
|
NM_183235.3(RAB27A):c.*949A>G
|
rs1061873
|
0.27447
|
|
NM_183235.3(RAB27A):c.*1594A>G
|
rs1061821
|
0.27431
|
|
NM_183235.3(RAB27A):c.*1647T>G
|
rs1061822
|
0.27431
|
|
NM_183235.3(RAB27A):c.*1742A>G
|
rs1061824
|
0.27430
|
|
NM_183235.3(RAB27A):c.*1427G>A
|
rs1061875
|
0.27307
|
|
NM_183235.3(RAB27A):c.*1418T>A
|
rs1061874
|
0.27298
|
|
NM_183235.3(RAB27A):c.*2007G>A
|
rs6493769
|
0.27179
|
|
NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)
|
rs8192696
|
0.24916
|
|
NM_003664.5(AP3B1):c.2016T>C (p.Ala672=)
|
rs42360
|
0.23948
|
|
NM_152564.5(VPS13B):c.10061+24G>A
|
rs34513504
|
0.23936
|
|
NM_152564.5(VPS13B):c.*1783C>T
|
rs7157
|
0.22293
|
|
NM_006118.4(HAX1):c.-58T>G
|
rs11265425
|
0.21409
|
|
NM_003664.5(AP3B1):c.1038T>C (p.Asn346=)
|
rs4532349
|
0.18606
|
|
NM_152564.5(VPS13B):c.3666+55T>C
|
rs3134156
|
0.17268
|
|
NM_003136.4(SRP54):c.1327+16_1327+32del
|
rs369856554
|
0.16649
|
|
NM_001164277.2(SLC37A4):c.-195-64C>T
|
rs56258965
|
0.15980
|
|
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=)
|
rs36074608
|
0.15932
|
|
NM_000081.4(LYST):c.153A>C (p.Gly51=)
|
rs11464
|
0.13219
|
|
NM_138387.4(G6PC3):c.381G>A (p.Thr127=)
|
rs3815076
|
0.12385
|
|
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg)
|
rs6468694
|
0.11916
|
|
NM_001164277.2(SLC37A4):c.626+19C>T
|
rs741811
|
0.11102
|
|
NM_183235.3(RAB27A):c.*1392A>C
|
rs12907749
|
0.11078
|
|
NM_000081.4(LYST):c.2355T>C (p.Leu785=)
|
rs3768066
|
0.10928
|
|
NM_183235.3(RAB27A):c.*2067C>G
|
rs7168226
|
0.10411
|
|
NM_006118.4(HAX1):c.159T>C (p.Ser53=)
|
rs13796
|
0.09423
|
|
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala)
|
rs7833870
|
0.09284
|
|
NM_000081.4(LYST):c.4392C>T (p.Asn1464=)
|
rs11583387
|
0.09239
|
|
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=)
|
rs61753724
|
0.07191
|
|
NM_152564.5(VPS13B):c.9331-2A>T
|
rs74485751
|
0.06492
|
|
NM_000081.4(LYST):c.2316C>T (p.Asp772=)
|
rs16832868
|
0.05899
|
|
NM_000081.4(LYST):c.5847G>C (p.Gln1949His)
|
rs6665568
|
0.05891
|
|
NM_000081.4(LYST):c.6630A>G (p.Glu2210=)
|
rs34466404
|
0.05877
|
|
NM_000760.4(CSF3R):c.1528G>C (p.Asp510His)
|
rs3917991
|
0.05672
|
|
NM_003664.5(AP3B1):c.1969-10G>A
|
rs77009095
|
0.05363
|
|
NM_003664.5(AP3B1):c.1683C>T (p.Leu561=)
|
rs17192146
|
0.04676
|
|
NM_001164277.2(SLC37A4):c.183T>C (p.Ala61=)
|
rs34123220
|
0.04470
|
|
NM_000081.4(LYST):c.574T>G (p.Leu192Val)
|
rs7524261
|
0.04386
|
|
NM_005263.5(GFI1):c.107G>A (p.Ser36Asn)
|
rs34631763
|
0.04129
|
|
NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp)
|
rs35333195
|
0.04044
|
|
NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala)
|
rs74641549
|
0.04030
|
|
NM_152564.5(VPS13B):c.*702dup
|
rs200421894
|
0.03823
|
|
NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn)
|
rs10465613
|
0.03661
|
|
NM_007259.5(VPS45):c.1032A>G (p.Glu344=)
|
rs74127419
|
0.03652
|
|
NM_007259.5(VPS45):c.246T>G (p.Ile82Met)
|
rs62622370
|
0.03643
|
|
NM_152564.5(VPS13B):c.3667-7C>T
|
rs35543295
|
0.03607
|
|
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=)
|
rs7844645
|
0.03400
|
|
NM_003467.3(CXCR4):c.414C>T (p.Ile138=)
|
rs2228014
|
0.03364
|
|
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys)
|
rs374991345
|
0.03070
|
|
NM_000081.4(LYST):c.5923-19G>T
|
rs141197189
|
0.03063
|
|
NM_000081.4(LYST):c.7857T>C (p.His2619=)
|
rs34160788
|
0.02966
|
|
NM_000081.4(LYST):c.6900G>A (p.Leu2300=)
|
rs10926586
|
0.02954
|
|
NM_001972.4(ELANE):c.390C>T (p.Asn130=)
|
rs17223045
|
0.02903
|
|
NM_000081.4(LYST):c.7137A>C (p.Leu2379=)
|
rs61738992
|
0.02884
|
|
NM_000760.4(CSF3R):c.692T>C (p.Met231Thr)
|
rs3917973
|
0.02621
|
|
NM_000760.4(CSF3R):c.1037A>G (p.Gln346Arg)
|
rs3917974
|
0.02609
|
|
NM_003664.5(AP3B1):c.1116G>C (p.Leu372=)
|
rs76433453
|
0.02452
|
|
NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr)
|
rs34642241
|
0.02388
|
|
NM_032492.4(JAGN1):c.244A>G (p.Ile82Val)
|
rs35365817
|
0.02315
|
|
NM_005263.5(GFI1):c.648A>G (p.Ala216=)
|
rs114464352
|
0.02301
|
|
NM_183235.3(RAB27A):c.*731G>T
|
rs76097718
|
0.02129
|
|
NM_000760.4(CSF3R):c.958G>A (p.Asp320Asn)
|
rs3918018
|
0.02119
|
|
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=)
|
rs34941871
|
0.02088
|
|
NM_000760.4(CSF3R):c.105C>A (p.Ile35=)
|
rs3917954
|
0.01973
|
|
NM_152564.4(VPS13B):c.*1932T>G
|
rs10106711
|
0.01850
|
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
|
NM_001164277.2(SLC37A4):c.1278G>A (p.Lys426=)
|
rs34871377
|
0.01714
|
|
NM_183235.3(RAB27A):c.-142-5A>G
|
rs61436564
|
0.01642
|
|
NM_003664.5(AP3B1):c.1364-18A>G
|
rs112329411
|
0.01617
|
|
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=)
|
rs61753726
|
0.01526
|
|
NM_003664.5(AP3B1):c.687A>G (p.Leu229=)
|
rs35496909
|
0.01507
|
|
NM_152564.5(VPS13B):c.9330+10T>A
|
rs75904081
|
0.01493
|
|
NM_003664.5(AP3B1):c.339A>C (p.Ala113=)
|
rs7706167
|
0.01450
|
|
NM_183235.3(RAB27A):c.*842G>A
|
rs59982153
|
0.01444
|
|
NM_138387.4(G6PC3):c.416+5A>G
|
rs73306693
|
0.01443
|
|
NM_138387.4(G6PC3):c.647C>T (p.Thr216Ile)
|
rs34406052
|
0.01442
|
|
NM_000760.4(CSF3R):c.726C>T (p.Ala242=)
|
rs3918017
|
0.01333
|
|
NM_005263.5(GFI1):c.1047C>T (p.Phe349=)
|
rs80337126
|
0.01333
|
|
NM_003664.5(AP3B1):c.1095+17C>T
|
rs58284777
|
0.01316
|
|
NM_138387.4(G6PC3):c.-152T>C
|
rs149756661
|
0.01300
|
|
NM_001164277.2(SLC37A4):c.626+14C>T
|
rs56394886
|
0.01293
|
|
NM_152564.5(VPS13B):c.*336_*353dup
|
rs554420171
|
0.01237
|
|
NM_001164277.2(SLC37A4):c.149-14A>G
|
rs79849261
|
0.01232
|
|
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=)
|
rs115369860
|
0.01189
|
|
NM_000081.4(LYST):c.9C>T (p.Thr3=)
|
rs33998267
|
0.01172
|
|
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln)
|
rs75933366
|
0.01162
|
|
NM_183235.3(RAB27A):c.*2349A>G
|
rs76970799
|
0.01147
|
|
NM_032492.4(JAGN1):c.403G>A (p.Ala135Thr)
|
rs61746084
|
0.01094
|
|
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)
|
rs35010541
|
0.01045
|
|
NM_152564.5(VPS13B):c.11044+13G>A
|
rs116819080
|
0.01028
|
|
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=)
|
rs16897391
|
0.01022
|
|
NM_000116.5(TAFAZZIN):c.-88G>C
|
rs113130344
|
0.01021
|
|
NM_003664.5(AP3B1):c.2810-4C>T
|
rs115340604
|
0.01015
|
|
NM_001972.3(ELANE):c.-41C>A
|
rs17216614
|
0.00970
|
|
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)
|
rs17216656
|
0.00945
|
|
NM_000760.4(CSF3R):c.1794C>T (p.Ile598=)
|
rs3917998
|
0.00872
|
|
NM_003260.5(TLE2):c.2114G>A (p.Ser705Asn)
|
rs143713547
|
0.00863
|
|
NM_006118.4(HAX1):c.53+14C>T
|
rs115683875
|
0.00834
|
|
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr)
|
rs61753721
|
0.00820
|
|
NM_001401501.2(MUC16):c.27739T>C (p.Ser9247Pro)
|
rs76869876
|
0.00816
|
|
NM_152564.5(VPS13B):c.*1539A>G
|
rs80237506
|
0.00812
|
|
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=)
|
rs138667007
|
0.00801
|
|
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu)
|
rs35342235
|
0.00760
|
|
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)
|
rs61730035
|
0.00758
|
|
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys)
|
rs62001050
|
0.00745
|
|
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=)
|
rs61742808
|
0.00740
|
|
NM_183235.3(RAB27A):c.*2160A>G
|
rs62020099
|
0.00739
|
|
NM_007259.5(VPS45):c.290-14C>T
|
rs148026724
|
0.00735
|
|
NM_000760.4(CSF3R):c.1684T>C (p.Tyr562His)
|
rs3917996
|
0.00717
|
|
NM_138387.4(G6PC3):c.*2T>C
|
rs113416399
|
0.00711
|
|
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile)
|
rs116746734
|
0.00699
|
|
NM_183235.3(RAB27A):c.*387A>G
|
rs73407873
|
0.00697
|
|
NM_152564.5(VPS13B):c.2934+14A>T
|
rs187151724
|
0.00690
|
|
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile)
|
rs61753722
|
0.00690
|
|
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=)
|
rs145969836
|
0.00688
|
|
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=)
|
rs145648860
|
0.00688
|
|
NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)
|
rs146591126
|
0.00669
|
|
NM_003664.5(AP3B1):c.*379A>G
|
rs115124715
|
0.00669
|
|
NM_003664.5(AP3B1):c.2661C>A (p.Phe887Leu)
|
rs139344924
|
0.00669
|
|
NM_003260.5(TLE2):c.946G>A (p.Gly316Arg)
|
rs201317355
|
0.00668
|
|
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln)
|
rs61754113
|
0.00651
|
|
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile)
|
rs138127778
|
0.00637
|
|
NM_152564.5(VPS13B):c.2451T>C (p.His817=)
|
rs114120664
|
0.00630
|
|
NM_000081.4(LYST):c.10941-7C>A
|
rs72761794
|
0.00614
|
|
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly)
|
rs113671330
|
0.00608
|
|
NM_005263.5(GFI1):c.718G>C (p.Glu240Gln)
|
rs6666973
|
0.00603
|
|
NM_000760.4(CSF3R):c.2422G>A (p.Glu808Lys)
|
rs146617729
|
0.00588
|
|
NM_000081.4(LYST):c.7059+7G>A
|
rs111764031
|
0.00582
|
|
NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly)
|
rs112601869
|
0.00580
|
|
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)
|
rs17216663
|
0.00569
|
|
NM_000081.4(LYST):c.8898T>C (p.Tyr2966=)
|
rs144475533
|
0.00560
|
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
|
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=)
|
rs149796549
|
0.00535
|
|
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=)
|
rs75248449
|
0.00528
|
|
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=)
|
rs150771329
|
0.00528
|
|
NM_003664.5(AP3B1):c.2995G>A (p.Val999Met)
|
rs146503597
|
0.00517
|
|
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp)
|
rs149842139
|
0.00511
|
|
NM_183235.3(RAB27A):c.*132G>A
|
rs77014779
|
0.00511
|
|
NM_003664.5(AP3B1):c.2585C>T (p.Thr862Ile)
|
rs146624866
|
0.00508
|
|
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe)
|
rs143708376
|
0.00505
|
|
NM_000760.4(CSF3R):c.1213G>A (p.Glu405Lys)
|
rs3918019
|
0.00492
|
|
NM_001972.4(ELANE):c.785C>T (p.Pro262Leu)
|
rs17216670
|
0.00492
|
|
NM_000377.3(WAS):c.995T>C (p.Val332Ala)
|
rs2737799
|
0.00489
|
|
NM_007259.5(VPS45):c.570C>T (p.Cys190=)
|
rs114087868
|
0.00487
|
|
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)
|
rs115330112
|
0.00485
|
|
NM_000081.4(LYST):c.-5C>T
|
rs141317482
|
0.00475
|
|
NM_183235.3(RAB27A):c.*472A>C
|
rs116723038
|
0.00475
|
|
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn)
|
rs143097446
|
0.00471
|
|
NM_001972.4(ELANE):c.99C>T (p.Gly33=)
|
rs17216628
|
0.00463
|
|
NM_006468.8(POLR3C):c.251G>A (p.Arg84Gln)
|
rs115748902
|
0.00454
|
|
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg)
|
rs61759485
|
0.00451
|
|
NM_000081.4(LYST):c.10800+4G>T
|
rs41308172
|
0.00441
|
|
NM_015117.3(ZC3H3):c.1203G>C (p.Lys401Asn)
|
rs145312531
|
0.00429
|
|
NM_183235.3(RAB27A):c.*1013T>C
|
rs190724892
|
0.00420
|
|
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)
|
rs147756847
|
0.00416
|
|
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=)
|
rs61753725
|
0.00412
|
|
NM_183235.3(RAB27A):c.*1863C>T
|
rs566144766
|
0.00405
|
|
NM_003664.5(AP3B1):c.2042A>G (p.Glu681Gly)
|
rs113301033
|
0.00400
|
|
NM_032492.4(JAGN1):c.498C>T (p.Ser166=)
|
rs61738795
|
0.00399
|
|
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=)
|
rs62001052
|
0.00398
|
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
|
NM_000081.4(LYST):c.1686G>C (p.Gln562His)
|
rs77091385
|
0.00394
|
|
NM_000081.4(LYST):c.4863-19T>C
|
rs150288597
|
0.00393
|
|
NM_183235.3(RAB27A):c.*1878T>C
|
rs552625680
|
0.00389
|
|
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=)
|
rs34961653
|
0.00377
|
|
NM_183235.3(RAB27A):c.594G>A (p.Val198=)
|
rs141222527
|
0.00374
|
|
NM_152564.5(VPS13B):c.7050+11A>G
|
rs114546856
|
0.00372
|
|
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=)
|
rs35902788
|
0.00370
|
|
NM_003664.5(AP3B1):c.1838-19T>G
|
rs140840619
|
0.00367
|
|
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln)
|
rs3918020
|
0.00363
|
|
NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala)
|
rs35413645
|
0.00350
|
|
NM_005263.5(GFI1):c.168C>T (p.Ser56=)
|
rs143913803
|
0.00346
|
|
NM_015117.3(ZC3H3):c.1646C>T (p.Ser549Leu)
|
rs149025999
|
0.00340
|
|
NM_138387.4(G6PC3):c.815A>G (p.Gln272Arg)
|
rs34491309
|
0.00334
|
|
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu)
|
rs140848350
|
0.00331
|
|
NM_152564.5(VPS13B):c.*655G>C
|
rs78305289
|
0.00328
|
|
NM_005462.5(MAGEC1):c.2T>C (p.Met1Thr)
|
rs113574601
|
0.00322
|
|
NM_000081.4(LYST):c.6292G>A (p.Ala2098Thr)
|
rs146091043
|
0.00315
|
|
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr)
|
rs142476821
|
0.00312
|
|
NM_138387.4(G6PC3):c.-194C>T
|
rs28370440
|
0.00305
|
|
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys)
|
rs111751379
|
0.00304
|
|
NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile)
|
rs143223086
|
0.00302
|
|
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp)
|
rs139332126
|
0.00300
|
|
NM_032492.4(JAGN1):c.21G>C (p.Pro7=)
|
rs138937423
|
0.00299
|
|
NM_003664.5(AP3B1):c.2613C>T (p.His871=)
|
rs144420604
|
0.00295
|
|
NM_005263.5(GFI1):c.483T>C (p.Pro161=)
|
rs374062963
|
0.00289
|
|
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)
|
rs150306354
|
0.00280
|
|
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile)
|
rs34203644
|
0.00280
|
|
NM_000081.4(LYST):c.5223T>C (p.Leu1741=)
|
rs7530527
|
0.00277
|
|
NM_000081.4(LYST):c.1384C>T (p.Pro462Ser)
|
rs77848653
|
0.00276
|
|
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)
|
rs34702903
|
0.00276
|
|
NM_005263.5(GFI1):c.792C>T (p.Phe264=)
|
rs114487177
|
0.00276
|
|
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr)
|
rs140963213
|
0.00275
|
|
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile)
|
rs202209699
|
0.00273
|
|
NM_152564.5(VPS13B):c.4746-15T>C
|
rs117058417
|
0.00272
|
|
NM_000760.4(CSF3R):c.2041-30C>T
|
rs3918021
|
0.00270
|
|
NM_005263.5(GFI1):c.319C>G (p.Pro107Ala)
|
rs149914857
|
0.00269
|
|
NM_032492.4(JAGN1):c.1A>G (p.Met1Val)
|
rs143438463
|
0.00267
|
|
NM_001164277.2(SLC37A4):c.540C>T (p.Ser180=)
|
rs371716153
|
0.00262
|
|
NM_152564.5(VPS13B):c.9330+9A>G
|
rs184381851
|
0.00261
|
|
NM_000081.4(LYST):c.2363+4T>C
|
rs201398337
|
0.00252
|
|
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val)
|
rs112045467
|
0.00251
|
|
NM_003467.3(CXCR4):c.783C>T (p.Ile261=)
|
rs148279552
|
0.00246
|
|
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn)
|
rs148777544
|
0.00243
|
|
NM_152564.5(VPS13B):c.11392+8G>A
|
rs147921058
|
0.00242
|
|
NM_001183.6(ATP6AP1):c.539G>A (p.Arg180His)
|
rs140841742
|
0.00241
|
|
NM_152274.5(CCNQ):c.338G>A (p.Arg113His)
|
rs150562029
|
0.00241
|
|
NM_000081.4(LYST):c.597C>G (p.Asp199Glu)
|
rs112127610
|
0.00238
|
|
NM_003664.5(AP3B1):c.1040+9T>A
|
rs201876461
|
0.00237
|
|
NM_183235.3(RAB27A):c.468-3C>T
|
rs113895512
|
0.00237
|
|
NM_006118.4(HAX1):c.207A>T (p.Pro69=)
|
rs142150013
|
0.00228
|
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
|
NM_024598.4(USB1):c.641G>A (p.Cys214Tyr)
|
rs146685901
|
0.00223
|
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
|
NM_003664.5(AP3B1):c.2730T>C (p.Thr910=)
|
rs143527588
|
0.00220
|
|
NM_152564.5(VPS13B):c.*61G>A
|
rs189939258
|
0.00218
|
|
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val)
|
rs145547375
|
0.00215
|
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
|
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser)
|
rs139968311
|
0.00213
|
|
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu)
|
rs144257406
|
0.00213
|
|
NM_152564.5(VPS13B):c.4746-14C>T
|
rs112780006
|
0.00212
|
|
NM_000116.5(TAFAZZIN):c.646+14C>T
|
rs191527230
|
0.00206
|
|
NM_152564.5(VPS13B):c.*1355T>G
|
rs562826355
|
0.00204
|
|
NM_003664.5(AP3B1):c.1857T>G (p.Leu619=)
|
rs115892142
|
0.00200
|
|
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=)
|
rs113454700
|
0.00194
|
|
NM_000760.4(CSF3R):c.108C>T (p.Val36=)
|
rs3918011
|
0.00193
|
|
NM_007259.5(VPS45):c.937-16G>A
|
rs193195913
|
0.00191
|
|
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His)
|
rs145798898
|
0.00188
|
|
NM_000760.4(CSF3R):c.2407C>T (p.Pro803Ser)
|
rs35622214
|
0.00185
|
|
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val)
|
rs142025324
|
0.00182
|
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
|
NM_003664.5(AP3B1):c.*44G>A
|
rs182487478
|
0.00174
|
|
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)
|
rs145553827
|
0.00171
|
|
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile)
|
rs111353525
|
0.00170
|
|
NM_183235.3(RAB27A):c.-142-86A>T
|
rs191174694
|
0.00165
|
|
NM_000377.3(WAS):c.1276G>T (p.Ala426Ser)
|
rs201085962
|
0.00160
|
|
NM_000760.4(CSF3R):c.1689C>A (p.Thr563=)
|
rs113047241
|
0.00158
|
|
NM_000760.4(CSF3R):c.1748G>A (p.Arg583His)
|
rs148104401
|
0.00158
|
|
NM_183235.3(RAB27A):c.*2216A>G
|
rs150526064
|
0.00158
|
|
NM_000760.4(CSF3R):c.2334G>A (p.Ala778=)
|
rs116118817
|
0.00154
|
|
NM_152564.5(VPS13B):c.5905A>G (p.Ile1969Val)
|
rs139640224
|
0.00154
|
|
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser)
|
rs143885622
|
0.00152
|
|
NM_183235.3(RAB27A):c.-93G>T
|
rs181491869
|
0.00151
|
|
NM_000760.4(CSF3R):c.1458G>A (p.Thr486=)
|
rs138289951
|
0.00150
|
|
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)
|
rs138443479
|
0.00148
|
|
NM_032492.4(JAGN1):c.90-20C>T
|
rs187981807
|
0.00144
|
|
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=)
|
rs138661755
|
0.00144
|
|
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr)
|
rs140015545
|
0.00144
|
|
NM_000081.4(LYST):c.6632C>G (p.Pro2211Arg)
|
rs138972355
|
0.00140
|
|
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)
|
rs111722949
|
0.00135
|
|
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=)
|
rs3917988
|
0.00135
|
|
NM_000760.4(CSF3R):c.1919C>T (p.Thr640Ile)
|
rs121918426
|
0.00135
|
|
NM_152564.5(VPS13B):c.2651-15A>C
|
rs370251406
|
0.00135
|
|
NM_000760.4(CSF3R):c.704T>C (p.Met235Thr)
|
rs141729889
|
0.00133
|
|
NM_000081.4(LYST):c.8487C>T (p.Ile2829=)
|
rs144597913
|
0.00126
|
|
NM_152564.5(VPS13B):c.10824C>T (p.His3608=)
|
rs114818249
|
0.00126
|
|
NM_000760.4(CSF3R):c.1577-12C>G
|
rs200420429
|
0.00125
|
|
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu)
|
rs34878178
|
0.00124
|
|
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys)
|
rs150393340
|
0.00118
|
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
|
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys)
|
rs61754109
|
0.00116
|
|
NM_000377.3(WAS):c.1453+16C>T
|
rs200543049
|
0.00115
|
|
NM_000760.4(CSF3R):c.1856T>C (p.Leu619Ser)
|
rs141619366
|
0.00115
|
|
NM_003664.5(AP3B1):c.375+11G>A
|
rs190638302
|
0.00114
|
|
NM_003136.4(SRP54):c.636A>C (p.Ile212=)
|
rs140228686
|
0.00113
|
|
NM_152564.5(VPS13B):c.4224+549C>T
|
rs182492131
|
0.00113
|
|
NM_183235.3(RAB27A):c.*370T>C
|
rs144322660
|
0.00112
|
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
|
NM_000081.4(LYST):c.4548C>T (p.Ser1516=)
|
rs116551057
|
0.00108
|
|
NM_152564.5(VPS13B):c.*202T>A
|
rs201566966
|
0.00108
|
|
NM_000081.4(LYST):c.7506A>G (p.Gln2502=)
|
rs140434436
|
0.00106
|
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
|
NM_000081.4(LYST):c.11382C>T (p.Phe3794=)
|
rs111770759
|
0.00102
|
|
NM_005263.5(GFI1):c.-14A>C
|
rs200972824
|
0.00101
|
|
NM_152564.5(VPS13B):c.11495+19G>A
|
rs370575091
|
0.00097
|
|
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=)
|
rs150573530
|
0.00096
|
|
NM_000116.5(TAFAZZIN):c.*560G>A
|
rs782808430
|
0.00094
|
|
NM_000081.4(LYST):c.6588A>G (p.Gly2196=)
|
rs34423788
|
0.00093
|
|
NM_003664.5(AP3B1):c.942G>A (p.Ala314=)
|
rs146871001
|
0.00093
|
|
NM_138387.4(G6PC3):c.189C>T (p.Ile63=)
|
rs144594971
|
0.00092
|
|
NM_007259.5(VPS45):c.318C>T (p.Asp106=)
|
rs150076399
|
0.00091
|
|
NM_138387.4(G6PC3):c.*97G>C
|
rs565305947
|
0.00091
|
|
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=)
|
rs61754107
|
0.00091
|
|
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
|
rs74315329
|
0.00089
|
|
NM_000760.4(CSF3R):c.355G>A (p.Ala119Thr)
|
rs142999683
|
0.00089
|
|
NM_003664.5(AP3B1):c.1198G>C (p.Ala400Pro)
|
rs150000996
|
0.00088
|
|
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=)
|
rs114038492
|
0.00088
|
|
NM_000081.4(LYST):c.2769A>C (p.Ser923=)
|
rs112739986
|
0.00086
|
|
NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)
|
rs113209379
|
0.00086
|
|
NM_000081.4(LYST):c.3507C>T (p.Leu1169=)
|
rs74861744
|
0.00083
|
|
NM_138387.4(G6PC3):c.566G>A (p.Arg189Gln)
|
rs140294222
|
0.00083
|
|
NM_007259.5(VPS45):c.290-10T>C
|
rs192850081
|
0.00081
|
|
NM_000379.4(XDH):c.3647C>A (p.Pro1216His)
|
rs143981573
|
0.00078
|
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
|
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr)
|
rs140095832
|
0.00077
|
|
NM_000760.4(CSF3R):c.1723+8T>C
|
rs143931193
|
0.00076
|
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
|
NM_007259.5(VPS45):c.126G>A (p.Ser42=)
|
rs148944527
|
0.00076
|
|
NM_007259.5(VPS45):c.1626-14A>C
|
rs201279066
|
0.00076
|
|
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile)
|
rs150185067
|
0.00076
|
|
NM_000081.4(LYST):c.7229+3A>G
|
rs529306869
|
0.00074
|
|
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu)
|
rs149531438
|
0.00074
|
|
NM_000081.4(LYST):c.10235G>A (p.Arg3412His)
|
rs148409403
|
0.00073
|
|
NM_000377.3(WAS):c.413G>A (p.Arg138Gln)
|
rs139265251
|
0.00073
|
|
NM_001164277.2(SLC37A4):c.628T>C (p.Ser210Pro)
|
rs201101662
|
0.00073
|
|
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=)
|
rs145279584
|
0.00073
|
|
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys)
|
rs149478021
|
0.00073
|
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
|
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=)
|
rs139436386
|
0.00072
|
|
NM_000081.4(LYST):c.6455G>A (p.Ser2152Asn)
|
rs147761755
|
0.00070
|
|
NM_152564.5(VPS13B):c.11495+6A>G
|
rs116546060
|
0.00070
|
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
|
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser)
|
rs142674934
|
0.00069
|
|
NM_005263.5(GFI1):c.63A>G (p.Pro21=)
|
rs142779589
|
0.00068
|
|
NM_152564.5(VPS13B):c.*831C>T
|
rs547185676
|
0.00068
|
|
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg)
|
rs143205296
|
0.00068
|
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
|
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe)
|
rs145208175
|
0.00068
|
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
|
NM_152564.5(VPS13B):c.*924A>C
|
rs186225330
|
0.00066
|
|
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=)
|
rs112634620
|
0.00066
|
|
NM_032492.4(JAGN1):c.315C>A (p.Ile105=)
|
rs185449117
|
0.00064
|
|
NM_000377.3(WAS):c.538C>A (p.His180Asn)
|
rs145040665
|
0.00063
|
|
NM_000081.4(LYST):c.8368A>C (p.Lys2790Gln)
|
rs138506576
|
0.00061
|
|
NM_007259.5(VPS45):c.566A>G (p.Glu189Gly)
|
rs144659538
|
0.00061
|
|
NM_138387.4(G6PC3):c.468G>A (p.Ala156=)
|
rs141663645
|
0.00061
|
|
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr)
|
rs73273219
|
0.00061
|
|
NM_000081.4(LYST):c.2363+10dup
|
rs760632806
|
0.00058
|
|
NM_183235.3(RAB27A):c.*2343G>C
|
rs141632141
|
0.00057
|
|
NM_000760.4(CSF3R):c.2496G>A (p.Ala832=)
|
rs150501885
|
0.00056
|
|
NM_005263.5(GFI1):c.1032C>T (p.Tyr344=)
|
rs139144506
|
0.00056
|
|
NM_001972.4(ELANE):c.778C>A (p.Pro260Thr)
|
rs143579306
|
0.00055
|
|
NM_000081.4(LYST):c.4637C>T (p.Ala1546Val)
|
rs142983846
|
0.00054
|
|
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu)
|
rs141046414
|
0.00054
|
|
NM_183235.3(RAB27A):c.*725C>T
|
rs116903039
|
0.00054
|
|
NM_000377.3(WAS):c.90C>T (p.His30=)
|
rs148800063
|
0.00053
|
|
NM_001164277.2(SLC37A4):c.663G>A (p.Leu221=)
|
rs150083315
|
0.00053
|
|
NM_001164277.2(SLC37A4):c.930C>T (p.Gly310=)
|
rs148971334
|
0.00053
|
|
NM_003664.5(AP3B1):c.3131+5G>T
|
rs191616060
|
0.00053
|
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
|
NM_152564.5(VPS13B):c.983A>G (p.His328Arg)
|
rs181625846
|
0.00053
|
|
NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)
|
rs147221131
|
0.00052
|
|
NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)
|
rs2753327
|
0.00052
|
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
|
NM_001164277.2(SLC37A4):c.985+228C>G
|
rs201997939
|
0.00050
|
|
NM_007259.5(VPS45):c.487A>G (p.Thr163Ala)
|
rs146014368
|
0.00050
|
|
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met)
|
rs150783688
|
0.00050
|
|
NM_152564.5(VPS13B):c.3211-11T>C
|
rs77129176
|
0.00050
|
|
NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)
|
rs150636017
|
0.00049
|
|
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn)
|
rs149334616
|
0.00049
|
|
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr)
|
rs199764888
|
0.00048
|
|
NM_152564.5(VPS13B):c.6645A>C (p.Gly2215=)
|
rs147817990
|
0.00048
|
|
NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)
|
rs140934482
|
0.00047
|
|
NM_003664.5(AP3B1):c.822C>T (p.Tyr274=)
|
rs112652327
|
0.00047
|
|
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser)
|
rs146460917
|
0.00047
|
|
NM_152564.5(VPS13B):c.711T>C (p.Arg237=)
|
rs140808736
|
0.00047
|
|
NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln)
|
rs138936105
|
0.00046
|
|
NM_000081.4(LYST):c.143A>G (p.His48Arg)
|
rs200132460
|
0.00046
|
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
|
NM_001972.4(ELANE):c.784C>T (p.Pro262Ser)
|
rs138211132
|
0.00046
|
|
NM_003664.5(AP3B1):c.1184A>G (p.Asn395Ser)
|
rs145351589
|
0.00046
|
|
NM_000081.4(LYST):c.3217A>G (p.Ile1073Val)
|
rs151130915
|
0.00045
|
|
NM_003467.3(CXCR4):c.157A>C (p.Ile53Leu)
|
rs56400844
|
0.00045
|
|
NM_000081.4(LYST):c.3208A>G (p.Ile1070Val)
|
rs150321124
|
0.00043
|
|
NM_000081.4(LYST):c.692A>G (p.Gln231Arg)
|
rs147433918
|
0.00043
|
|
NM_000081.4(LYST):c.6682G>C (p.Asp2228His)
|
rs150270086
|
0.00042
|
|
NM_000760.4(CSF3R):c.2197C>A (p.Pro733Thr)
|
rs78861150
|
0.00042
|
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
|
NM_152564.5(VPS13B):c.505C>A (p.Leu169Ile)
|
rs376498106
|
0.00042
|
|
NM_152564.5(VPS13B):c.8793-12T>A
|
rs189516672
|
0.00042
|
|
NM_000116.5(TAFAZZIN):c.542-20C>T
|
rs373841640
|
0.00041
|
|
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=)
|
rs200703321
|
0.00041
|
|
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=)
|
rs34089426
|
0.00041
|
|
NM_152564.5(VPS13B):c.921G>A (p.Met307Ile)
|
rs140709787
|
0.00041
|
|
NM_000081.4(LYST):c.9198C>T (p.Ser3066=)
|
rs543359133
|
0.00039
|
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
|
NM_001972.4(ELANE):c.171C>T (p.Ala57=)
|
rs201224981
|
0.00039
|
|
NM_003664.5(AP3B1):c.38G>C (p.Gly13Ala)
|
rs139760966
|
0.00039
|
|
NM_138387.4(G6PC3):c.1017A>G (p.Glu339=)
|
rs144587192
|
0.00039
|
|
NM_000081.4(LYST):c.1655T>C (p.Val552Ala)
|
rs199617821
|
0.00038
|
|
NM_152564.5(VPS13B):c.*743T>G
|
rs144603951
|
0.00038
|
|
NM_000760.4(CSF3R):c.1747C>T (p.Arg583Cys)
|
rs3917997
|
0.00037
|
|
NM_001972.4(ELANE):c.654C>T (p.Phe218=)
|
rs148492780
|
0.00037
|
|
NM_000116.5(TAFAZZIN):c.*396C>T
|
rs144283894
|
0.00036
|
|
NM_000760.4(CSF3R):c.93C>T (p.Val31=)
|
rs150277708
|
0.00036
|
|
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)
|
rs200662873
|
0.00036
|
|
NM_003467.3(CXCR4):c.708G>A (p.Lys236=)
|
rs199713103
|
0.00036
|
|
NM_138387.4(G6PC3):c.50A>C (p.Asn17Thr)
|
rs375162061
|
0.00036
|
|
NM_152564.5(VPS13B):c.4757A>G (p.Asn1586Ser)
|
rs147342579
|
0.00036
|
|
NM_183235.3(RAB27A):c.399C>T (p.Asn133=)
|
rs577958598
|
0.00036
|
|
NM_003664.5(AP3B1):c.279+16A>G
|
rs199804239
|
0.00035
|
|
NM_006118.4(HAX1):c.117_122dup (p.Glu40_Gly41dup)
|
rs781468690
|
0.00035
|
|
NM_138387.4(G6PC3):c.1006A>C (p.Ser336Arg)
|
rs141431274
|
0.00035
|
|
NM_152564.5(VPS13B):c.7430-11T>C
|
rs369223072
|
0.00035
|
|
NM_000081.4(LYST):c.2946T>C (p.Tyr982=)
|
rs145892183
|
0.00034
|
|
NM_000760.4(CSF3R):c.2211C>T (p.Ser737=)
|
rs376211630
|
0.00034
|
|
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=)
|
rs767239312
|
0.00034
|
|
NM_152564.5(VPS13B):c.10867+11A>G
|
rs376656751
|
0.00034
|
|
NM_183235.3(RAB27A):c.*2415T>C
|
rs749048516
|
0.00034
|
|
NM_138387.4(G6PC3):c.1035T>A (p.Ser345=)
|
rs201244794
|
0.00033
|
|
NM_000081.4(LYST):c.4863-4G>A
|
rs201382097
|
0.00032
|
|
NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)
|
rs147899661
|
0.00032
|
|
NM_000760.4(CSF3R):c.486-14T>G
|
rs201903505
|
0.00032
|
|
NM_003664.5(AP3B1):c.2188C>T (p.Arg730Trp)
|
rs141102178
|
0.00032
|
|
NM_032492.4(JAGN1):c.270C>T (p.Leu90=)
|
rs143617732
|
0.00032
|
|
NM_152564.5(VPS13B):c.*305G>A
|
rs149912942
|
0.00032
|
|
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=)
|
rs149176010
|
0.00032
|
|
NM_000081.4(LYST):c.2313G>A (p.Gln771=)
|
rs147220685
|
0.00031
|
|
NM_000081.4(LYST):c.6782G>A (p.Arg2261His)
|
rs147791378
|
0.00031
|
|
NM_000377.3(WAS):c.1181C>T (p.Pro394Leu)
|
rs373524969
|
0.00031
|
|
NM_000760.4(CSF3R):c.2434G>A (p.Val812Ile)
|
rs528303671
|
0.00031
|
|
NM_004523.4(KIF11):c.77+5G>C
|
rs200188195
|
0.00031
|
|
NM_152564.5(VPS13B):c.1843+16A>G
|
rs141433441
|
0.00031
|
|
NM_152564.5(VPS13B):c.3083-14A>G
|
rs373617404
|
0.00031
|
|
NM_152564.5(VPS13B):c.885C>T (p.Gly295=)
|
rs143112539
|
0.00031
|
|
NM_183235.3(RAB27A):c.418C>G (p.Gln140Glu)
|
rs150463407
|
0.00031
|
|
NM_003467.3(CXCR4):c.945C>T (p.His315=)
|
rs144110709
|
0.00030
|
|
NM_005263.5(GFI1):c.786+11C>A
|
rs370294881
|
0.00030
|
|
NM_152564.5(VPS13B):c.11114A>T (p.Glu3705Val)
|
rs376308074
|
0.00030
|
|
NM_152564.5(VPS13B):c.3075G>A (p.Thr1025=)
|
rs141637316
|
0.00030
|
|
NM_152564.5(VPS13B):c.4452T>C (p.Asn1484=)
|
rs148033080
|
0.00030
|
|
NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)
|
rs150953050
|
0.00029
|
|
NM_000081.4(LYST):c.3394-14T>C
|
rs372892911
|
0.00029
|
|
NM_000081.4(LYST):c.8268C>T (p.His2756=)
|
rs141534829
|
0.00029
|
|
NM_000377.3(WAS):c.873C>T (p.Tyr291=)
|
rs149123892
|
0.00029
|
|
NM_000760.4(CSF3R):c.61G>A (p.Gly21Arg)
|
rs200059719
|
0.00029
|
|
NM_006118.4(HAX1):c.428G>C (p.Gly143Ala)
|
rs755031266
|
0.00029
|
|
NM_152564.5(VPS13B):c.3436C>G (p.Leu1146Val)
|
rs202015701
|
0.00029
|
|
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala)
|
rs184693266
|
0.00029
|
|
NM_152564.5(VPS13B):c.4989C>A (p.Pro1663=)
|
rs142380266
|
0.00029
|
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
|
NM_000377.3(WAS):c.1110A>C (p.Pro370=)
|
rs782244198
|
0.00028
|
|
NM_000377.3(WAS):c.1200G>A (p.Pro400=)
|
rs375356111
|
0.00028
|
|
NM_001972.4(ELANE):c.16C>A (p.Arg6=)
|
rs182347433
|
0.00028
|
|
NM_005263.5(GFI1):c.572C>T (p.Ala191Val)
|
rs758542203
|
0.00028
|
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
|
NM_000081.4(LYST):c.368A>G (p.His123Arg)
|
rs3768067
|
0.00027
|
|
NM_003664.5(AP3B1):c.303C>T (p.Tyr101=)
|
rs115747826
|
0.00027
|
|
NM_024598.4(USB1):c.784A>G (p.Met262Val)
|
rs143382202
|
0.00027
|
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
|
NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)
|
rs201513511
|
0.00026
|
|
NM_000081.4(LYST):c.7368T>C (p.Asn2456=)
|
rs199631995
|
0.00026
|
|
NM_000760.4(CSF3R):c.1510G>A (p.Val504Met)
|
rs145256322
|
0.00026
|
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
|
NM_000760.4(CSF3R):c.272A>G (p.His91Arg)
|
rs148307285
|
0.00026
|
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
|
NM_001972.4(ELANE):c.68-15C>A
|
rs367875841
|
0.00026
|
|
NM_005263.5(GFI1):c.1245G>C (p.Arg415=)
|
rs376151566
|
0.00026
|
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
|
NM_007259.5(VPS45):c.-4C>T
|
rs200563209
|
0.00026
|
|
NM_007259.5(VPS45):c.1297C>A (p.Arg433=)
|
rs140771138
|
0.00026
|
|
NM_007259.5(VPS45):c.758C>T (p.Pro253Leu)
|
rs143828923
|
0.00026
|
|
NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)
|
rs117609949
|
0.00025
|
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
|
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala)
|
rs201483764
|
0.00025
|
|
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=)
|
rs140090983
|
0.00025
|
|
NM_152564.5(VPS13B):c.9783C>T (p.Ser3261=)
|
rs147242148
|
0.00025
|
|
NM_003664.5(AP3B1):c.1168-9C>T
|
rs367648410
|
0.00024
|
|
NM_003664.5(AP3B1):c.2310C>T (p.Asp770=)
|
rs142938290
|
0.00024
|
|
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=)
|
rs141324814
|
0.00024
|
|
NM_152564.5(VPS13B):c.6752T>C (p.Val2251Ala)
|
rs147576864
|
0.00024
|
|
NM_000081.4(LYST):c.10053G>A (p.Ser3351=)
|
rs146872810
|
0.00023
|
|
NM_000760.4(CSF3R):c.765A>T (p.Pro255=)
|
rs145439244
|
0.00023
|
|
NM_003664.5(AP3B1):c.1022G>A (p.Arg341His)
|
rs141832130
|
0.00023
|
|
NM_005263.5(GFI1):c.200G>A (p.Arg67Lys)
|
rs200577201
|
0.00023
|
|
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)
|
rs201650333
|
0.00023
|
|
NM_000081.4(LYST):c.2754G>A (p.Glu918=)
|
rs373577384
|
0.00022
|
|
NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)
|
rs140944484
|
0.00022
|
|
NM_001972.4(ELANE):c.441C>T (p.Asn147=)
|
rs146878885
|
0.00022
|
|
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala)
|
rs142971568
|
0.00022
|
|
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln)
|
rs182849552
|
0.00022
|
|
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)
|
rs199855658
|
0.00021
|
|
NM_000081.4(LYST):c.4006+8G>A
|
rs369153654
|
0.00021
|
|
NM_000081.4(LYST):c.9045-13T>C
|
rs181450025
|
0.00021
|
|
NM_000081.4(LYST):c.997C>T (p.His333Tyr)
|
rs140821981
|
0.00021
|
|
NM_000377.3(WAS):c.1455C>T (p.Asp485=)
|
rs35359501
|
0.00021
|
|
NM_003467.3(CXCR4):c.153T>A (p.Thr51=)
|
rs145879963
|
0.00021
|
|
NM_003467.3(CXCR4):c.294C>T (p.Ala98=)
|
rs142289207
|
0.00021
|
|
NM_006118.4(HAX1):c.15T>A (p.Asp5Glu)
|
rs201078819
|
0.00021
|
|
NM_007259.5(VPS45):c.1556A>G (p.Tyr519Cys)
|
rs145193116
|
0.00021
|
|
NM_152564.5(VPS13B):c.*1345C>T
|
rs778566330
|
0.00021
|
|
NM_152564.5(VPS13B):c.*745C>G
|
rs138761680
|
0.00021
|
|
NM_152564.5(VPS13B):c.11338G>T (p.Val3780Leu)
|
rs138565077
|
0.00021
|
|
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=)
|
rs142850229
|
0.00021
|
|
NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)
|
rs200511787
|
0.00020
|
|
NM_000377.3(WAS):c.1339-18G>A
|
rs370010448
|
0.00020
|
|
NM_001972.4(ELANE):c.431G>A (p.Arg144His)
|
rs142441575
|
0.00020
|
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
|
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=)
|
rs201735478
|
0.00020
|
|
NM_000081.4(LYST):c.1674G>A (p.Leu558=)
|
rs149520131
|
0.00019
|
|
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala)
|
rs151337641
|
0.00019
|
|
NM_000081.4(LYST):c.9552G>T (p.Leu3184Phe)
|
rs556200563
|
0.00019
|
|
NM_000116.5(TAFAZZIN):c.584-7del
|
rs782192927
|
0.00019
|
|
NM_000377.3(WAS):c.1191G>A (p.Pro397=)
|
rs782486251
|
0.00019
|
|
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)
|
rs782307200
|
0.00019
|
|
NM_000760.4(CSF3R):c.855C>T (p.Leu285=)
|
rs150784508
|
0.00019
|
|
NM_001164277.2(SLC37A4):c.1124+36C>G
|
rs547915912
|
0.00019
|
|
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln)
|
rs548684318
|
0.00019
|
|
NM_005263.5(GFI1):c.588C>T (p.Gly196=)
|
rs370716261
|
0.00019
|
|
NM_007259.5(VPS45):c.1174G>A (p.Ala392Thr)
|
rs782059726
|
0.00019
|
|
NM_007259.5(VPS45):c.514T>C (p.Cys172Arg)
|
rs191692092
|
0.00019
|
|
NM_152564.5(VPS13B):c.10992C>T (p.Phe3664=)
|
rs575051014
|
0.00019
|
|
NM_152564.5(VPS13B):c.4225-6G>A
|
rs199755508
|
0.00019
|
|
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro)
|
rs148704031
|
0.00019
|
|
NM_152564.5(VPS13B):c.6658-13T>A
|
rs369117364
|
0.00019
|
|
NM_000081.4(LYST):c.595G>A (p.Asp199Asn)
|
rs552391792
|
0.00018
|
|
NM_003664.5(AP3B1):c.402C>T (p.Ser134=)
|
rs144761256
|
0.00018
|
|
NM_006118.4(HAX1):c.557-6T>C
|
rs776550825
|
0.00018
|
|
NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)
|
rs138296453
|
0.00018
|
|
NM_007259.5(VPS45):c.625G>T (p.Val209Phe)
|
rs201955039
|
0.00018
|
|
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=)
|
rs199941415
|
0.00018
|
|
NM_152564.5(VPS13B):c.8280T>C (p.Cys2760=)
|
rs145090492
|
0.00018
|
|
NM_152564.5(VPS13B):c.9369C>T (p.Cys3123=)
|
rs745668942
|
0.00018
|
|
NM_000081.4(LYST):c.2700A>G (p.Leu900=)
|
rs111463684
|
0.00017
|
|
NM_001972.4(ELANE):c.366+12C>A
|
rs377068029
|
0.00017
|
|
NM_003664.5(AP3B1):c.*482C>T
|
rs538570213
|
0.00017
|
|
NM_003664.5(AP3B1):c.1995A>G (p.Lys665=)
|
rs201097736
|
0.00017
|
|
NM_005263.5(GFI1):c.83G>A (p.Arg28His)
|
rs372866021
|
0.00017
|
|
NM_024598.4(USB1):c.512T>C (p.Ile171Thr)
|
rs149725439
|
0.00017
|
|
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys)
|
rs139141291
|
0.00017
|
|
NM_152564.5(VPS13B):c.6833G>A (p.Arg2278Gln)
|
rs748374112
|
0.00017
|
|
NM_000081.4(LYST):c.588T>C (p.Pro196=)
|
rs147724454
|
0.00016
|
|
NM_000081.4(LYST):c.603C>T (p.Pro201=)
|
rs146354628
|
0.00016
|
|
NM_000081.4(LYST):c.6291C>T (p.Ala2097=)
|
rs199857997
|
0.00016
|
|
NM_000760.4(CSF3R):c.1457C>T (p.Thr486Met)
|
rs759506026
|
0.00016
|
|
NM_000760.4(CSF3R):c.1864+13G>A
|
rs776320121
|
0.00016
|
|
NM_003467.3(CXCR4):c.511G>A (p.Asp171Asn)
|
rs199535487
|
0.00016
|
|
NM_003467.3(CXCR4):c.861C>T (p.Thr287=)
|
rs535778934
|
0.00016
|
|
NM_005263.5(GFI1):c.1242C>T (p.His414=)
|
rs142561847
|
0.00016
|
|
NM_006118.4(HAX1):c.514G>A (p.Val172Ile)
|
rs141970914
|
0.00016
|
|
NM_006118.4(HAX1):c.593C>T (p.Pro198Leu)
|
rs146152769
|
0.00016
|
|
NM_007259.5(VPS45):c.1701G>A (p.Ala567=)
|
rs377365764
|
0.00016
|
|
NM_032492.4(JAGN1):c.35C>T (p.Thr12Ile)
|
rs150797085
|
0.00016
|
|
NM_032492.4(JAGN1):c.90-19C>T
|
rs201733831
|
0.00016
|
|
NM_152564.5(VPS13B):c.10568A>G (p.Tyr3523Cys)
|
rs398124326
|
0.00016
|
|
NM_152564.5(VPS13B):c.10868-8C>T
|
rs770620321
|
0.00016
|
|
NM_152564.5(VPS13B):c.11656G>A (p.Val3886Ile)
|
rs141793014
|
0.00016
|
|
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=)
|
rs147710096
|
0.00016
|
|
NM_152564.5(VPS13B):c.2471C>T (p.Ser824Phe)
|
rs145419141
|
0.00016
|
|
NM_152564.5(VPS13B):c.3083-9C>T
|
rs376659281
|
0.00016
|
|
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val)
|
rs201147123
|
0.00016
|
|
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=)
|
rs150376603
|
0.00016
|
|
NM_152564.5(VPS13B):c.4746-3C>A
|
rs199884841
|
0.00016
|
|
NM_152564.5(VPS13B):c.5607G>A (p.Thr1869=)
|
rs368851580
|
0.00016
|
|
NM_152564.5(VPS13B):c.6530G>A (p.Arg2177His)
|
rs147099791
|
0.00016
|
|
NM_183235.3(RAB27A):c.*1672T>C
|
rs886051306
|
0.00016
|
|
NM_183235.3(RAB27A):c.*668A>G
|
rs118003408
|
0.00016
|
|
NM_183235.3(RAB27A):c.559C>T (p.Arg187Trp)
|
rs144946000
|
0.00016
|
|
NM_000760.4(CSF3R):c.1665G>T (p.Gly555=)
|
rs139705992
|
0.00015
|
|
NM_000760.4(CSF3R):c.2194G>A (p.Asp732Asn)
|
rs746747614
|
0.00015
|
|
NM_003664.5(AP3B1):c.2239A>G (p.Lys747Glu)
|
rs201886263
|
0.00015
|
|
NM_152564.5(VPS13B):c.1186A>G (p.Lys396Glu)
|
rs755937467
|
0.00015
|
|
NM_152564.5(VPS13B):c.4254T>G (p.His1418Gln)
|
rs201349007
|
0.00015
|
|
NM_152564.5(VPS13B):c.7434A>G (p.Ala2478=)
|
rs373550277
|
0.00015
|
|
NM_152564.5(VPS13B):c.8104A>T (p.Ile2702Phe)
|
rs774565889
|
0.00015
|
|
NM_183235.3(RAB27A):c.*1473T>C
|
rs568895039
|
0.00015
|
|
NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)
|
rs148371004
|
0.00014
|
|
NM_000081.4(LYST):c.7806A>G (p.Gln2602=)
|
rs372754364
|
0.00014
|
|
NM_000081.4(LYST):c.9473A>G (p.Asn3158Ser)
|
rs143618409
|
0.00014
|
|
NM_000760.4(CSF3R):c.1761C>T (p.Leu587=)
|
rs149239453
|
0.00014
|
|
NM_000760.4(CSF3R):c.1864+12C>T
|
rs368290894
|
0.00014
|
|
NM_000760.4(CSF3R):c.846G>T (p.Val282=)
|
rs144166608
|
0.00014
|
|
NM_001164277.2(SLC37A4):c.174A>G (p.Ala58=)
|
rs371347098
|
0.00014
|
|
NM_001972.4(ELANE):c.174C>T (p.Thr58=)
|
rs199714513
|
0.00014
|
|
NM_001972.4(ELANE):c.428G>A (p.Arg143His)
|
rs200993994
|
0.00014
|
|
NM_001972.4(ELANE):c.490G>C (p.Gly164Arg)
|
rs112990855
|
0.00014
|
|
NM_003664.5(AP3B1):c.2345C>T (p.Ser782Phe)
|
rs143589037
|
0.00014
|
|
NM_005263.5(GFI1):c.759C>T (p.Gly253=)
|
rs369149637
|
0.00014
|
|
NM_006118.4(HAX1):c.54-18A>G
|
rs375210100
|
0.00014
|
|
NM_007259.5(VPS45):c.1442G>A (p.Arg481Lys)
|
rs151292369
|
0.00014
|
|
NM_007259.5(VPS45):c.1664G>A (p.Arg555Gln)
|
rs142968690
|
0.00014
|
|
NM_007259.5(VPS45):c.614G>A (p.Arg205His)
|
rs146660821
|
0.00014
|
|
NM_138387.4(G6PC3):c.800C>G (p.Ser267Cys)
|
rs201700844
|
0.00014
|
|
NM_152564.5(VPS13B):c.10612G>A (p.Gly3538Arg)
|
rs150767461
|
0.00014
|
|
NM_152564.5(VPS13B):c.11215+12C>T
|
rs371237817
|
0.00014
|
|
NM_152564.5(VPS13B):c.11474A>G (p.Asn3825Ser)
|
rs199741560
|
0.00014
|
|
NM_152564.5(VPS13B):c.1207-11A>G
|
rs199984592
|
0.00014
|
|
NM_152564.5(VPS13B):c.1843+10T>C
|
rs371154826
|
0.00014
|
|
NM_152564.5(VPS13B):c.2333+12A>T
|
rs373498932
|
0.00014
|
|
NM_152564.5(VPS13B):c.2748A>G (p.Pro916=)
|
rs144830924
|
0.00014
|
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
|
NM_152564.5(VPS13B):c.4746-7T>C
|
rs201136777
|
0.00014
|
|
NM_152564.5(VPS13B):c.5223C>A (p.Ile1741=)
|
rs144223843
|
0.00014
|
|
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu)
|
rs202226215
|
0.00014
|
|
NM_152564.5(VPS13B):c.934A>G (p.Thr312Ala)
|
rs780702951
|
0.00014
|
|
NM_183235.3(RAB27A):c.*429C>T
|
rs368212830
|
0.00014
|
|
NM_183235.3(RAB27A):c.17A>G (p.Tyr6Cys)
|
rs145253993
|
0.00014
|
|
NM_000081.4(LYST):c.1494A>G (p.Arg498=)
|
rs201412615
|
0.00013
|
|
NM_000081.4(LYST):c.2150A>G (p.Asn717Ser)
|
rs201255245
|
0.00013
|
|
NM_000081.4(LYST):c.2438G>A (p.Arg813Gln)
|
rs558162561
|
0.00013
|
|
NM_000081.4(LYST):c.4065A>G (p.Ser1355=)
|
rs371738691
|
0.00013
|
|
NM_000760.4(CSF3R):c.1509C>T (p.Ile503=)
|
rs142503546
|
0.00013
|
|
NM_000760.4(CSF3R):c.2072C>T (p.Pro691Leu)
|
rs183614500
|
0.00013
|
|
NM_001164277.2(SLC37A4):c.1128C>T (p.Gly376=)
|
rs200713586
|
0.00013
|
|
NM_001164277.2(SLC37A4):c.148+20G>A
|
rs782050642
|
0.00013
|
|
NM_003664.5(AP3B1):c.1720A>G (p.Thr574Ala)
|
rs141789572
|
0.00013
|
|
NM_003664.5(AP3B1):c.1741A>G (p.Ile581Val)
|
rs751683762
|
0.00013
|
|
NM_152564.5(VPS13B):c.11215+13G>A
|
rs370691974
|
0.00013
|
|
NM_152564.5(VPS13B):c.1551A>C (p.Ser517=)
|
rs200635121
|
0.00013
|
|
NM_152564.5(VPS13B):c.3017C>G (p.Ala1006Gly)
|
rs201566948
|
0.00013
|
|
NM_152564.5(VPS13B):c.365C>T (p.Pro122Leu)
|
rs201723380
|
0.00013
|
|
NM_152564.5(VPS13B):c.56A>G (p.Lys19Arg)
|
rs200327756
|
0.00013
|
|
NM_152564.5(VPS13B):c.6048G>A (p.Ala2016=)
|
rs200691718
|
0.00013
|
|
NM_152564.5(VPS13B):c.8750C>T (p.Ser2917Leu)
|
rs139732310
|
0.00013
|
|
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser)
|
rs576577339
|
0.00013
|
|
NM_183235.3(RAB27A):c.307A>G (p.Asn103Asp)
|
rs144492641
|
0.00013
|
|
NM_000081.4(LYST):c.2517T>C (p.Ile839=)
|
rs78172154
|
0.00012
|
|
NM_000081.4(LYST):c.716G>A (p.Ser239Asn)
|
rs534142793
|
0.00012
|
|
NM_000081.4(LYST):c.8151T>C (p.Ile2717=)
|
rs201045270
|
0.00012
|
|
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys)
|
rs375663114
|
0.00012
|
|
NM_000760.4(CSF3R):c.1704C>T (p.Asn568=)
|
rs373727880
|
0.00012
|
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
|
NM_005263.5(GFI1):c.938A>G (p.Asp313Gly)
|
rs376042061
|
0.00012
|
|
NM_007259.5(VPS45):c.778A>G (p.Arg260Gly)
|
rs587646859
|
0.00012
|
|
NM_152564.5(VPS13B):c.10868-16C>T
|
rs371370357
|
0.00012
|
|
NM_152564.5(VPS13B):c.10980C>T (p.Gly3660=)
|
rs142939294
|
0.00012
|
|
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu)
|
rs142516047
|
0.00012
|
|
NM_152564.5(VPS13B):c.2470T>G (p.Ser824Ala)
|
rs149866274
|
0.00012
|
|
NM_152564.5(VPS13B):c.4549C>T (p.Arg1517Cys)
|
rs375652507
|
0.00012
|
|
NM_152564.5(VPS13B):c.5612C>A (p.Thr1871Lys)
|
rs920484397
|
0.00012
|
|
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu)
|
rs375399419
|
0.00012
|
|
NM_152564.5(VPS13B):c.8728G>A (p.Glu2910Lys)
|
rs143787982
|
0.00012
|
|
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala)
|
rs376652526
|
0.00012
|
|
NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)
|
rs148299757
|
0.00011
|
|
NM_000081.4(LYST):c.4513A>G (p.Ile1505Val)
|
rs756527927
|
0.00011
|
|
NM_000081.4(LYST):c.6432A>G (p.Ser2144=)
|
rs145080654
|
0.00011
|
|
NM_000081.4(LYST):c.9628-15C>T
|
rs751859873
|
0.00011
|
|
NM_000377.3(WAS):c.206G>C (p.Cys69Ser)
|
rs374283590
|
0.00011
|
|
NM_000377.3(WAS):c.266G>A (p.Gly89Asp)
|
rs139857045
|
0.00011
|
|
NM_000377.3(WAS):c.593C>T (p.Ala198Val)
|
rs200261212
|
0.00011
|
|
NM_000760.4(CSF3R):c.142A>G (p.Ile48Val)
|
rs1047054210
|
0.00011
|
|
NM_001164277.2(SLC37A4):c.294C>T (p.Ser98=)
|
rs542959160
|
0.00011
|
|
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)
|
rs78735156
|
0.00011
|
|
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)
|
rs201421847
|
0.00011
|
|
NM_001972.4(ELANE):c.472C>G (p.Leu158Val)
|
rs535990034
|
0.00011
|
|
NM_003467.3(CXCR4):c.676C>T (p.Leu226=)
|
rs180746866
|
0.00011
|
|
NM_003664.5(AP3B1):c.1650+18dup
|
rs766343354
|
0.00011
|
|
NM_003664.5(AP3B1):c.1650+20C>G
|
rs374194943
|
0.00011
|
|
NM_003664.5(AP3B1):c.2762A>G (p.Glu921Gly)
|
rs753810749
|
0.00011
|
|
NM_007259.5(VPS45):c.1334C>G (p.Ala445Gly)
|
rs781801888
|
0.00011
|
|
NM_032492.4(JAGN1):c.64C>T (p.Arg22Cys)
|
rs146967886
|
0.00011
|
|
NM_138387.4(G6PC3):c.-164G>A
|
rs886052985
|
0.00011
|
|
NM_138387.4(G6PC3):c.406C>T (p.Arg136Trp)
|
rs138557340
|
0.00011
|
|
NM_138387.4(G6PC3):c.687C>T (p.Ser229=)
|
rs377343204
|
0.00011
|
|
NM_152564.5(VPS13B):c.10258G>A (p.Val3420Met)
|
rs191174682
|
0.00011
|
|
NM_152564.5(VPS13B):c.2472C>T (p.Ser824=)
|
rs766373133
|
0.00011
|
|
NM_152564.5(VPS13B):c.2880A>T (p.Leu960Phe)
|
rs760792770
|
0.00011
|
|
NM_152564.5(VPS13B):c.3559G>A (p.Val1187Ile)
|
rs151247807
|
0.00011
|
|
NM_152564.5(VPS13B):c.3621C>T (p.Leu1207=)
|
rs373889030
|
0.00011
|
|
NM_152564.5(VPS13B):c.4324T>A (p.Ser1442Thr)
|
rs143566455
|
0.00011
|
|
NM_152564.5(VPS13B):c.4829A>G (p.Asn1610Ser)
|
rs201587931
|
0.00011
|
|
NM_152564.5(VPS13B):c.7668C>T (p.Ser2556=)
|
rs370903187
|
0.00011
|
|
NM_183235.3(RAB27A):c.518C>G (p.Ala173Gly)
|
rs142217102
|
0.00011
|
|
NM_000081.4(LYST):c.10221C>T (p.Tyr3407=)
|
rs146457386
|
0.00010
|
|
NM_000081.4(LYST):c.196T>C (p.Leu66=)
|
rs138393416
|
0.00010
|
|
NM_000081.4(LYST):c.2826A>G (p.Pro942=)
|
rs149558986
|
0.00010
|
|
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp)
|
rs200276917
|
0.00010
|
|
NM_000081.4(LYST):c.7797C>A (p.Pro2599=)
|
rs141827492
|
0.00010
|
|
NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe)
|
rs554841002
|
0.00010
|
|
NM_000377.3(WAS):c.559+3G>A
|
rs782645822
|
0.00010
|
|
NM_000377.3(WAS):c.903G>C (p.Glu301Asp)
|
rs781898144
|
0.00010
|
|
NM_000760.4(CSF3R):c.1242C>T (p.Ala414=)
|
rs146435131
|
0.00010
|
|
NM_000760.4(CSF3R):c.2484T>C (p.His828=)
|
rs149680734
|
0.00010
|
|
NM_000760.4(CSF3R):c.524T>C (p.Leu175Pro)
|
rs377102404
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.150G>T (p.Gly50=)
|
rs202137454
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)
|
rs569831771
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.871+6C>T
|
rs377101167
|
0.00010
|
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
|
NM_001258392.3(CLPB):c.748C>G (p.Arg250Gly)
|
rs146762466
|
0.00010
|
|
NM_001972.4(ELANE):c.23C>T (p.Ala8Val)
|
rs201961347
|
0.00010
|
|
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe)
|
rs1085307624
|
0.00010
|
|
NM_003664.5(AP3B1):c.*101T>C
|
rs766029582
|
0.00010
|
|
NM_003664.5(AP3B1):c.1748C>T (p.Pro583Leu)
|
rs148023800
|
0.00010
|
|
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=)
|
rs199599147
|
0.00010
|
|
NM_006118.4(HAX1):c.505-14G>C
|
rs200863707
|
0.00010
|
|
NM_006118.4(HAX1):c.505-4G>A
|
rs186219647
|
0.00010
|
|
NM_007259.5(VPS45):c.1190G>A (p.Arg397Gln)
|
rs373735080
|
0.00010
|
|
NM_007259.5(VPS45):c.897A>G (p.Pro299=)
|
rs184193549
|
0.00010
|
|
NM_024598.4(USB1):c.387G>C (p.Leu129=)
|
rs542658449
|
0.00010
|
|
NM_138387.4(G6PC3):c.407G>A (p.Arg136Gln)
|
rs200050824
|
0.00010
|
|
NM_138387.4(G6PC3):c.726C>T (p.His242=)
|
rs147246080
|
0.00010
|
|
NM_152564.5(VPS13B):c.*1207G>C
|
rs182082022
|
0.00010
|
|
NM_152564.5(VPS13B):c.10845C>T (p.Ala3615=)
|
rs781485612
|
0.00010
|
|
NM_152564.5(VPS13B):c.2282C>A (p.Pro761His)
|
rs186644576
|
0.00010
|
|
NM_152564.5(VPS13B):c.3088C>T (p.Arg1030Cys)
|
rs374072699
|
0.00010
|
|
NM_152564.5(VPS13B):c.3297A>C (p.Thr1099=)
|
rs200982547
|
0.00010
|
|
NM_152564.5(VPS13B):c.5285G>A (p.Arg1762His)
|
rs587780498
|
0.00010
|
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
|
NM_152564.5(VPS13B):c.709C>T (p.Arg237Cys)
|
rs376296532
|
0.00010
|
|
NM_152564.5(VPS13B):c.7266T>C (p.Gly2422=)
|
rs766519309
|
0.00010
|
|
NM_152564.5(VPS13B):c.9100G>A (p.Gly3034Ser)
|
rs778256097
|
0.00010
|
|
NM_183235.3(RAB27A):c.*1296T>G
|
rs560689599
|
0.00010
|
|
NM_183235.3(RAB27A):c.275C>T (p.Ala92Val)
|
rs137960099
|
0.00010
|
|
NM_000081.4(LYST):c.281C>T (p.Thr94Ile)
|
rs777389303
|
0.00009
|
|
NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn)
|
rs138179493
|
0.00009
|
|
NM_000081.4(LYST):c.9327T>A (p.Asp3109Glu)
|
rs1413246726
|
0.00009
|
|
NM_000377.3(WAS):c.351C>T (p.Phe117=)
|
rs143299151
|
0.00009
|
|
NM_000377.3(WAS):c.696G>A (p.Lys232=)
|
rs368379103
|
0.00009
|
|
NM_000377.3(WAS):c.803G>A (p.Arg268Gln)
|
rs376560886
|
0.00009
|
|
NM_000760.4(CSF3R):c.1028G>A (p.Arg343Gln)
|
rs369185176
|
0.00009
|
|
NM_000760.4(CSF3R):c.1096G>A (p.Gly366Arg)
|
rs768170625
|
0.00009
|
|
NM_000760.4(CSF3R):c.2167C>G (p.Leu723Val)
|
rs766343562
|
0.00009
|
|
NM_000760.4(CSF3R):c.2427C>T (p.Asp809=)
|
rs369185814
|
0.00009
|
|
NM_000760.4(CSF3R):c.361+17A>C
|
rs373559200
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.*7T>G
|
rs369243698
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.-504G>A
|
rs1045560610
|
0.00009
|
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
|
NM_001972.4(ELANE):c.104G>A (p.Arg35Gln)
|
rs375350474
|
0.00009
|
|
NM_001972.4(ELANE):c.366+9G>A
|
rs200948740
|
0.00009
|
|
NM_001972.4(ELANE):c.417G>A (p.Pro139=)
|
rs199702100
|
0.00009
|
|
NM_003664.5(AP3B1):c.2900A>G (p.Lys967Arg)
|
rs766616397
|
0.00009
|
|
NM_003664.5(AP3B1):c.537-9A>G
|
rs372285421
|
0.00009
|
|
NM_003664.5(AP3B1):c.604-3T>C
|
rs754016521
|
0.00009
|
|
NM_003664.5(AP3B1):c.942+17A>G
|
rs377061172
|
0.00009
|
|
NM_005263.5(GFI1):c.431C>G (p.Ala144Gly)
|
rs533176227
|
0.00009
|
|
NM_006118.4(HAX1):c.*47A>G
|
rs183456651
|
0.00009
|
|
NM_006118.4(HAX1):c.-52G>T
|
rs578086387
|
0.00009
|
|
NM_006118.4(HAX1):c.317-2A>G
|
rs371504152
|
0.00009
|
|
NM_007259.5(VPS45):c.114A>G (p.Val38=)
|
rs1180456081
|
0.00009
|
|
NM_007259.5(VPS45):c.1197C>A (p.Ser399Arg)
|
rs371572450
|
0.00009
|
|
NM_007259.5(VPS45):c.1264-14C>G
|
rs587647418
|
0.00009
|
|
NM_032492.4(JAGN1):c.522C>G (p.Phe174Leu)
|
rs370035886
|
0.00009
|
|
NM_032492.4(JAGN1):c.541A>C (p.Lys181Gln)
|
rs754191323
|
0.00009
|
|
NM_032492.4(JAGN1):c.89+4T>C
|
rs571856698
|
0.00009
|
|
NM_138387.4(G6PC3):c.-178C>A
|
rs767632217
|
0.00009
|
|
NM_138387.4(G6PC3):c.264T>G (p.Gly88=)
|
rs377286452
|
0.00009
|
|
NM_138387.4(G6PC3):c.737G>A (p.Arg246Gln)
|
rs750355531
|
0.00009
|
|
NM_152564.5(VPS13B):c.10868-7G>A
|
rs376141593
|
0.00009
|
|
NM_152564.5(VPS13B):c.11885C>G (p.Pro3962Arg)
|
rs531619892
|
0.00009
|
|
NM_152564.5(VPS13B):c.11897A>T (p.Lys3966Ile)
|
rs117934093
|
0.00009
|
|
NM_152564.5(VPS13B):c.1464G>A (p.Thr488=)
|
rs727504217
|
0.00009
|
|
NM_152564.5(VPS13B):c.1564-16A>T
|
rs373961851
|
0.00009
|
|
NM_152564.5(VPS13B):c.1762A>G (p.Ser588Gly)
|
rs759332797
|
0.00009
|
|
NM_152564.5(VPS13B):c.2013+20A>G
|
rs199709281
|
0.00009
|
|
NM_152564.5(VPS13B):c.2038A>G (p.Thr680Ala)
|
rs374124369
|
0.00009
|
|
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met)
|
rs398124331
|
0.00009
|
|
NM_152564.5(VPS13B):c.3150A>G (p.Glu1050=)
|
rs144920754
|
0.00009
|
|
NM_152564.5(VPS13B):c.4791C>T (p.Ile1597=)
|
rs543837370
|
0.00009
|
|
NM_152564.5(VPS13B):c.4986C>T (p.Thr1662=)
|
rs148773425
|
0.00009
|
|
NM_152564.5(VPS13B):c.7164C>T (p.Leu2388=)
|
rs374136243
|
0.00009
|
|
NM_152564.5(VPS13B):c.7780-19C>T
|
rs199981958
|
0.00009
|
|
NM_152564.5(VPS13B):c.7950C>T (p.His2650=)
|
rs61754503
|
0.00009
|
|
NM_152564.5(VPS13B):c.8059A>G (p.Ile2687Val)
|
rs369100428
|
0.00009
|
|
NM_152564.5(VPS13B):c.9013A>G (p.Ile3005Val)
|
rs142110082
|
0.00009
|
|
NM_152564.5(VPS13B):c.9039G>A (p.Val3013=)
|
rs542823658
|
0.00009
|
|
NM_183235.3(RAB27A):c.*1842C>T
|
rs1030465363
|
0.00009
|
|
NM_183235.3(RAB27A):c.-58A>G
|
rs572723752
|
0.00009
|
|
NM_183235.3(RAB27A):c.172C>T (p.Pro58Ser)
|
rs201284258
|
0.00009
|
|
NM_183235.3(RAB27A):c.543A>G (p.Ile181Met)
|
rs139025012
|
0.00009
|
|
NM_000081.4(LYST):c.6881+8T>C
|
rs372075872
|
0.00008
|
|
NM_000081.4(LYST):c.7627+6A>T
|
rs749282192
|
0.00008
|
|
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
|
rs201337542
|
0.00008
|
|
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)
|
rs199672291
|
0.00008
|
|
NM_000116.5(TAFAZZIN):c.657C>T (p.Asp219=)
|
rs140751478
|
0.00008
|
|
NM_000377.3(WAS):c.264C>T (p.Tyr88=)
|
rs150520117
|
0.00008
|
|
NM_000377.3(WAS):c.285G>A (p.Leu95=)
|
rs781799471
|
0.00008
|
|
NM_000760.4(CSF3R):c.101C>T (p.Pro34Leu)
|
rs34362628
|
0.00008
|
|
NM_000760.4(CSF3R):c.1185C>T (p.Cys395=)
|
rs184980728
|
0.00008
|
|
NM_000760.4(CSF3R):c.1484G>C (p.Arg495Thr)
|
rs769045336
|
0.00008
|
|
NM_000760.4(CSF3R):c.1724-15G>A
|
rs371706347
|
0.00008
|
|
NM_000760.4(CSF3R):c.251A>C (p.Glu84Ala)
|
rs565088221
|
0.00008
|
|
NM_000760.4(CSF3R):c.885C>T (p.Cys295=)
|
rs747273831
|
0.00008
|
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
|
NM_001164277.2(SLC37A4):c.201T>C (p.Ser67=)
|
rs372405501
|
0.00008
|
|
NM_003467.3(CXCR4):c.1003G>A (p.Gly335Ser)
|
rs147214773
|
0.00008
|
|
NM_003467.3(CXCR4):c.16-14T>A
|
rs1053292586
|
0.00008
|
|
NM_003467.3(CXCR4):c.506T>C (p.Ile169Thr)
|
rs371317659
|
0.00008
|
|
NM_003664.5(AP3B1):c.1031G>A (p.Arg344His)
|
rs765852823
|
0.00008
|
|
NM_003664.5(AP3B1):c.2424T>C (p.Asp808=)
|
rs144240072
|
0.00008
|
|
NM_003664.5(AP3B1):c.2993-15C>A
|
rs202232687
|
0.00008
|
|
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)
|
rs777241871
|
0.00008
|
|
NM_005263.5(GFI1):c.532G>A (p.Gly178Arg)
|
rs768183366
|
0.00008
|
|
NM_006118.4(HAX1):c.102T>G (p.Asp34Glu)
|
rs141512965
|
0.00008
|
|
NM_007259.5(VPS45):c.1395G>A (p.Gln465=)
|
rs782595882
|
0.00008
|
|
NM_007259.5(VPS45):c.1473C>T (p.Gly491=)
|
rs142640111
|
0.00008
|
|
NM_007259.5(VPS45):c.462G>A (p.Gln154=)
|
rs781792682
|
0.00008
|
|
NM_007259.5(VPS45):c.785T>C (p.Val262Ala)
|
rs148174305
|
0.00008
|
|
NM_138387.4(G6PC3):c.699G>A (p.Lys233=)
|
rs529935686
|
0.00008
|
|
NM_138387.4(G6PC3):c.727G>A (p.Val243Met)
|
rs140785361
|
0.00008
|
|
NM_152564.5(VPS13B):c.11144G>A (p.Arg3715Gln)
|
rs141566041
|
0.00008
|
|
NM_152564.5(VPS13B):c.347C>G (p.Thr116Arg)
|
rs762421764
|
0.00008
|
|
NM_152564.5(VPS13B):c.3650A>C (p.Lys1217Thr)
|
rs138000928
|
0.00008
|
|
NM_152564.5(VPS13B):c.4262A>G (p.His1421Arg)
|
rs371961155
|
0.00008
|
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
|
NM_152564.5(VPS13B):c.560G>A (p.Arg187His)
|
rs150941426
|
0.00008
|
|
NM_152564.5(VPS13B):c.5631G>A (p.Arg1877=)
|
rs937213176
|
0.00008
|
|
NM_152564.5(VPS13B):c.8097+10T>C
|
rs971919054
|
0.00008
|
|
NM_152564.5(VPS13B):c.8244G>A (p.Ser2748=)
|
rs182347753
|
0.00008
|
|
NM_152564.5(VPS13B):c.9530T>C (p.Leu3177Pro)
|
rs199559979
|
0.00008
|
|
NM_183235.3(RAB27A):c.526A>T (p.Met176Leu)
|
rs757760608
|
0.00008
|
|
NM_000081.4(LYST):c.3931A>G (p.Met1311Val)
|
rs376718077
|
0.00007
|
|
NM_000081.4(LYST):c.476G>A (p.Arg159Lys)
|
rs111806240
|
0.00007
|
|
NM_000116.5(TAFAZZIN):c.*618A>G
|
rs781924638
|
0.00007
|
|
NM_000760.4(CSF3R):c.1358A>G (p.Asn453Ser)
|
rs763953521
|
0.00007
|
|
NM_000760.4(CSF3R):c.2118G>A (p.Pro706=)
|
rs776938018
|
0.00007
|
|
NM_000760.4(CSF3R):c.2242G>A (p.Asp748Asn)
|
rs147017250
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.567T>C (p.Asn189=)
|
rs368678559
|
0.00007
|
|
NM_001164277.2(SLC37A4):c.626+25C>T
|
rs533221443
|
0.00007
|
|
NM_001972.4(ELANE):c.524C>T (p.Thr175Met)
|
rs193141883
|
0.00007
|
|
NM_001972.4(ELANE):c.68-13G>A
|
rs371409487
|
0.00007
|
|
NM_003664.5(AP3B1):c.1367T>C (p.Ile456Thr)
|
rs536306260
|
0.00007
|
|
NM_003664.5(AP3B1):c.1845T>A (p.Asp615Glu)
|
rs138751237
|
0.00007
|
|
NM_003664.5(AP3B1):c.2709A>G (p.Gln903=)
|
rs774631707
|
0.00007
|
|
NM_003664.5(AP3B1):c.2779G>A (p.Gly927Ser)
|
rs746205404
|
0.00007
|
|
NM_005263.5(GFI1):c.49C>G (p.Gln17Glu)
|
rs750251158
|
0.00007
|
|
NM_006118.4(HAX1):c.160C>G (p.Pro54Ala)
|
rs139205111
|
0.00007
|
|
NM_006118.4(HAX1):c.679C>T (p.Arg227Trp)
|
rs200890522
|
0.00007
|
|
NM_007259.5(VPS45):c.1267G>C (p.Val423Leu)
|
rs201002467
|
0.00007
|
|
NM_007259.5(VPS45):c.443G>A (p.Arg148Gln)
|
rs370166172
|
0.00007
|
|
NM_007259.5(VPS45):c.571G>A (p.Val191Ile)
|
rs200783288
|
0.00007
|
|
NM_152564.5(VPS13B):c.10549A>G (p.Lys3517Glu)
|
rs143187571
|
0.00007
|
|
NM_152564.5(VPS13B):c.11542G>C (p.Asp3848His)
|
rs558917637
|
0.00007
|
|
NM_152564.5(VPS13B):c.11759G>A (p.Arg3920Gln)
|
rs147907236
|
0.00007
|
|
NM_152564.5(VPS13B):c.1303-4A>G
|
rs772842729
|
0.00007
|
|
NM_152564.5(VPS13B):c.329G>A (p.Arg110His)
|
rs61754110
|
0.00007
|
|
NM_152564.5(VPS13B):c.3766A>G (p.Met1256Val)
|
rs570925076
|
0.00007
|
|
NM_152564.5(VPS13B):c.4622C>T (p.Pro1541Leu)
|
rs552843068
|
0.00007
|
|
NM_152564.5(VPS13B):c.5093G>T (p.Gly1698Val)
|
rs368362777
|
0.00007
|
|
NM_152564.5(VPS13B):c.8177G>A (p.Gly2726Asp)
|
rs376283724
|
0.00007
|
|
NM_152564.5(VPS13B):c.8842A>G (p.Ile2948Val)
|
rs145265055
|
0.00007
|
|
NM_152564.5(VPS13B):c.9338G>A (p.Arg3113His)
|
rs141408531
|
0.00007
|
|
NM_152564.5(VPS13B):c.9743-18C>G
|
rs760570932
|
0.00007
|
|
NM_183235.3(RAB27A):c.*1485G>A
|
rs886051308
|
0.00007
|
|
NM_000081.4(LYST):c.3030A>G (p.Gly1010=)
|
rs751511204
|
0.00006
|
|
NM_000081.4(LYST):c.3834G>A (p.Leu1278=)
|
rs148542548
|
0.00006
|
|
NM_000081.4(LYST):c.4983G>A (p.Leu1661=)
|
rs1482156206
|
0.00006
|
|
NM_000081.4(LYST):c.5418C>T (p.His1806=)
|
rs146990900
|
0.00006
|
|
NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr)
|
rs559869925
|
0.00006
|
|
NM_000081.4(LYST):c.5635-4A>G
|
rs754201076
|
0.00006
|
|
NM_000081.4(LYST):c.5919G>A (p.Leu1973=)
|
rs748908539
|
0.00006
|
|
NM_000081.4(LYST):c.6078C>T (p.Tyr2026=)
|
rs80338660
|
0.00006
|
|
NM_000081.4(LYST):c.6149G>A (p.Arg2050Gln)
|
rs376311093
|
0.00006
|
|
NM_000081.4(LYST):c.6258G>A (p.Glu2086=)
|
rs771882274
|
0.00006
|
|
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr)
|
rs368500877
|
0.00006
|
|
NM_000081.4(LYST):c.7911G>A (p.Thr2637=)
|
rs140229368
|
0.00006
|
|
NM_000081.4(LYST):c.8205T>G (p.Ser2735=)
|
rs147539199
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.567C>T (p.Phe189=)
|
rs141773967
|
0.00006
|
|
NM_000116.5(TAFAZZIN):c.751C>T (p.Arg251Trp)
|
rs372689133
|
0.00006
|
|
NM_000377.3(WAS):c.1208C>T (p.Pro403Leu)
|
rs782666797
|
0.00006
|
|
NM_000377.3(WAS):c.1299G>A (p.Ala433=)
|
rs372649110
|
0.00006
|
|
NM_000377.3(WAS):c.1339-3C>T
|
rs373491815
|
0.00006
|
|
NM_000377.3(WAS):c.273+14C>T
|
rs782249573
|
0.00006
|
|
NM_000377.3(WAS):c.724A>T (p.Ser242Cys)
|
rs782286374
|
0.00006
|
|
NM_000760.4(CSF3R):c.1253G>A (p.Arg418His)
|
rs564880597
|
0.00006
|
|
NM_000760.4(CSF3R):c.171G>A (p.Pro57=)
|
rs200847455
|
0.00006
|
|
NM_000760.4(CSF3R):c.1812C>T (p.Ser604=)
|
rs372180979
|
0.00006
|
|
NM_000760.4(CSF3R):c.2011G>A (p.Gly671Ser)
|
rs1434097987
|
0.00006
|
|
NM_000760.4(CSF3R):c.234G>A (p.Leu78=)
|
rs768137002
|
0.00006
|
|
NM_000760.4(CSF3R):c.353G>A (p.Arg118His)
|
rs923298829
|
0.00006
|
|
NM_000760.4(CSF3R):c.560G>C (p.Cys187Ser)
|
rs949262067
|
0.00006
|
|
NM_000760.4(CSF3R):c.60C>T (p.Pro20=)
|
rs773341373
|
0.00006
|
|
NM_001136018.4(EPHX1):c.1004C>T (p.Thr335Met)
|
rs761149789
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.1125-7_1125-6del
|
rs782342989
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.149-16G>A
|
rs373027415
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.84C>G (p.Arg28=)
|
rs568517935
|
0.00006
|
|
NM_001164277.2(SLC37A4):c.972T>C (p.Ser324=)
|
rs781824710
|
0.00006
|
|
NM_001258392.3(CLPB):c.844A>G (p.Met282Val)
|
rs773028492
|
0.00006
|
|
NM_001972.4(ELANE):c.375G>A (p.Gly125=)
|
rs201512730
|
0.00006
|
|
NM_001972.4(ELANE):c.378G>A (p.Ser126=)
|
rs202204133
|
0.00006
|
|
NM_001972.4(ELANE):c.396C>T (p.Asn132=)
|
rs144441259
|
0.00006
|
|
NM_001972.4(ELANE):c.519C>T (p.Asn173=)
|
rs200393776
|
0.00006
|
|
NM_001972.4(ELANE):c.585C>T (p.Ala195=)
|
rs777834651
|
0.00006
|
|
NM_001972.4(ELANE):c.597+10C>G
|
rs201460728
|
0.00006
|
|
NM_003467.3(CXCR4):c.704G>A (p.Arg235His)
|
rs377287446
|
0.00006
|
|
NM_003664.5(AP3B1):c.*507G>A
|
rs865863660
|
0.00006
|
|
NM_003664.5(AP3B1):c.131A>G (p.Asn44Ser)
|
rs774098325
|
0.00006
|
|
NM_003664.5(AP3B1):c.1462G>A (p.Asp488Asn)
|
rs370362655
|
0.00006
|
|
NM_003664.5(AP3B1):c.1749G>A (p.Pro583=)
|
rs201238945
|
0.00006
|
|
NM_003664.5(AP3B1):c.2025T>C (p.Phe675=)
|
rs370684531
|
0.00006
|
|
NM_003664.5(AP3B1):c.2446G>A (p.Val816Ile)
|
rs372847987
|
0.00006
|
|
NM_003664.5(AP3B1):c.2578-12C>T
|
rs532846547
|
0.00006
|
|
NM_003664.5(AP3B1):c.3197C>T (p.Ser1066Phe)
|
rs764100439
|
0.00006
|
|
NM_003664.5(AP3B1):c.823G>A (p.Glu275Lys)
|
rs140209190
|
0.00006
|
|
NM_003664.5(AP3B1):c.835G>T (p.Asp279Tyr)
|
rs751922416
|
0.00006
|
|
NM_004523.4(KIF11):c.3053A>G (p.His1018Arg)
|
rs147164679
|
0.00006
|
|
NM_005263.5(GFI1):c.1091-5C>T
|
rs1385981170
|
0.00006
|
|
NM_005263.5(GFI1):c.1188C>T (p.Phe396=)
|
rs374783582
|
0.00006
|
|
NM_005263.5(GFI1):c.314T>A (p.Met105Lys)
|
rs201301010
|
0.00006
|
|
NM_006118.4(HAX1):c.122G>T (p.Gly41Val)
|
rs369987963
|
0.00006
|
|
NM_007259.5(VPS45):c.1314C>T (p.Asp438=)
|
rs781797197
|
0.00006
|
|
NM_007259.5(VPS45):c.1620G>A (p.Thr540=)
|
rs144696919
|
0.00006
|
|
NM_007259.5(VPS45):c.38A>G (p.Lys13Arg)
|
rs139992347
|
0.00006
|
|
NM_007259.5(VPS45):c.888G>C (p.Lys296Asn)
|
rs1315600520
|
0.00006
|
|
NM_032492.4(JAGN1):c.189G>A (p.Leu63=)
|
rs748678543
|
0.00006
|
|
NM_138387.4(G6PC3):c.166G>A (p.Ala56Thr)
|
rs140585667
|
0.00006
|
|
NM_138387.4(G6PC3):c.169G>A (p.Val57Met)
|
rs150477295
|
0.00006
|
|
NM_138387.4(G6PC3):c.668A>C (p.Asp223Ala)
|
rs779584053
|
0.00006
|
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
|
NM_138387.4(G6PC3):c.849G>A (p.Lys283=)
|
rs767810900
|
0.00006
|
|
NM_138387.4(G6PC3):c.883G>T (p.Gly295Cys)
|
rs202238577
|
0.00006
|
|
NM_152564.5(VPS13B):c.*304C>T
|
rs913240465
|
0.00006
|
|
NM_152564.5(VPS13B):c.1000T>C (p.Tyr334His)
|
rs150464408
|
0.00006
|
|
NM_152564.5(VPS13B):c.1076A>G (p.Tyr359Cys)
|
rs727504216
|
0.00006
|
|
NM_152564.5(VPS13B):c.10868-11G>C
|
rs373157768
|
0.00006
|
|
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=)
|
rs771022240
|
0.00006
|
|
NM_152564.5(VPS13B):c.11052C>G (p.Leu3684=)
|
rs373428916
|
0.00006
|
|
NM_152564.5(VPS13B):c.11170G>A (p.Glu3724Lys)
|
rs180177372
|
0.00006
|
|
NM_152564.5(VPS13B):c.11216-6T>C
|
rs780721865
|
0.00006
|
|
NM_152564.5(VPS13B):c.11447G>A (p.Ser3816Asn)
|
rs1419202718
|
0.00006
|
|
NM_152564.5(VPS13B):c.11495+18C>T
|
rs151025899
|
0.00006
|
|
NM_152564.5(VPS13B):c.11668G>A (p.Asp3890Asn)
|
rs771105877
|
0.00006
|
|
NM_152564.5(VPS13B):c.1209C>T (p.Leu403=)
|
rs756539595
|
0.00006
|
|
NM_152564.5(VPS13B):c.1289G>C (p.Gly430Ala)
|
rs147448147
|
0.00006
|
|
NM_152564.5(VPS13B):c.1303-9G>A
|
rs370251445
|
0.00006
|
|
NM_152564.5(VPS13B):c.1590G>A (p.Met530Ile)
|
rs200519753
|
0.00006
|
|
NM_152564.5(VPS13B):c.2051C>T (p.Ser684Phe)
|
rs367999029
|
0.00006
|
|
NM_152564.5(VPS13B):c.2056C>T (p.Arg686Trp)
|
rs148047632
|
0.00006
|
|
NM_152564.5(VPS13B):c.2075G>A (p.Arg692Gln)
|
rs371500701
|
0.00006
|
|
NM_152564.5(VPS13B):c.2617A>G (p.Met873Val)
|
rs745651556
|
0.00006
|
|
NM_152564.5(VPS13B):c.2655T>C (p.Asp885=)
|
rs769466569
|
0.00006
|
|
NM_152564.5(VPS13B):c.2917A>G (p.Ser973Gly)
|
rs749751670
|
0.00006
|
|
NM_152564.5(VPS13B):c.2925T>C (p.His975=)
|
rs535722018
|
0.00006
|
|
NM_152564.5(VPS13B):c.3083-19T>A
|
rs544048511
|
0.00006
|
|
NM_152564.5(VPS13B):c.367C>T (p.Arg123Trp)
|
rs551933357
|
0.00006
|
|
NM_152564.5(VPS13B):c.4890G>A (p.Val1630=)
|
rs144069822
|
0.00006
|
|
NM_152564.5(VPS13B):c.5077-14C>T
|
rs181830964
|
0.00006
|
|
NM_152564.5(VPS13B):c.6046+18T>G
|
rs1009720045
|
0.00006
|
|
NM_152564.5(VPS13B):c.611A>G (p.Asn204Ser)
|
rs201363767
|
0.00006
|
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
|
NM_152564.5(VPS13B):c.7623T>A (p.Ser2541Arg)
|
rs754632431
|
0.00006
|
|
NM_152564.5(VPS13B):c.7639A>G (p.Ser2547Gly)
|
rs140061281
|
0.00006
|
|
NM_152564.5(VPS13B):c.7801G>A (p.Glu2601Lys)
|
rs144350008
|
0.00006
|
|
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=)
|
rs376062743
|
0.00006
|
|
NM_152564.5(VPS13B):c.8102T>C (p.Ile2701Thr)
|
rs189689493
|
0.00006
|
|
NM_152564.5(VPS13B):c.8727C>T (p.Asp2909=)
|
rs201517365
|
0.00006
|
|
NM_152564.5(VPS13B):c.9183+16A>G
|
rs200565849
|
0.00006
|
|
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=)
|
rs373968888
|
0.00006
|
|
NM_152564.5(VPS13B):c.9657T>C (p.Tyr3219=)
|
rs780634043
|
0.00006
|
|
NM_152564.5(VPS13B):c.9830C>T (p.Pro3277Leu)
|
rs141138612
|
0.00006
|
|
NM_152564.5(VPS13B):c.9948G>A (p.Val3316=)
|
rs757595357
|
0.00006
|
|
NM_183235.3(RAB27A):c.*1156T>G
|
rs747438491
|
0.00006
|
|
NM_183235.3(RAB27A):c.*1170T>G
|
rs574506558
|
0.00006
|
|
NM_183235.3(RAB27A):c.*1669A>G
|
rs981927108
|
0.00006
|
|
NM_183235.3(RAB27A):c.*814G>A
|
rs146798701
|
0.00006
|
|
NM_183235.3(RAB27A):c.213G>T (p.Gln71His)
|
rs776920896
|
0.00006
|
|
NM_183235.3(RAB27A):c.255G>T (p.Thr85=)
|
rs147130708
|
0.00006
|
|
NM_183235.3(RAB27A):c.424G>C (p.Val142Leu)
|
rs538323738
|
0.00006
|
|
NM_183235.3(RAB27A):c.468-4C>T
|
rs371060436
|
0.00006
|
|
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)
|
rs200956636
|
0.00006
|
|
NM_183235.3(RAB27A):c.551G>A (p.Arg184Gln)
|
rs141362723
|
0.00006
|
|
NM_183235.3(RAB27A):c.636A>C (p.Glu212Asp)
|
rs1210017547
|
0.00006
|
|
NM_000081.4(LYST):c.1089T>C (p.Ile363=)
|
rs761334667
|
0.00005
|
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
|
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)
|
rs201657175
|
0.00005
|
|
NM_000377.3(WAS):c.1252G>T (p.Ala418Ser)
|
rs782784813
|
0.00005
|
|
NM_000377.3(WAS):c.361-17C>T
|
rs782768055
|
0.00005
|
|
NM_000377.3(WAS):c.490A>C (p.Thr164Pro)
|
rs781918613
|
0.00005
|
|
NM_000377.3(WAS):c.69C>T (p.Pro23=)
|
rs1557006235
|
0.00005
|
|
NM_000377.3(WAS):c.941C>T (p.Pro314Leu)
|
rs782752881
|
0.00005
|
|
NM_000760.4(CSF3R):c.1726G>A (p.Ala576Thr)
|
rs373888342
|
0.00005
|
|
NM_000760.4(CSF3R):c.568C>T (p.Arg190Cys)
|
rs757569036
|
0.00005
|
|
NM_000760.4(CSF3R):c.648A>C (p.Gln216His)
|
rs747021516
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.1026G>A (p.Ser342=)
|
rs782777751
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.594C>T (p.Asn198=)
|
rs758536145
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.675C>T (p.Tyr225=)
|
rs996440530
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)
|
rs782308530
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)
|
rs782475284
|
0.00005
|
|
NM_001164277.2(SLC37A4):c.985+290T>C
|
rs781943252
|
0.00005
|
|
NM_001258392.3(CLPB):c.1570C>T (p.Arg524Trp)
|
rs200299650
|
0.00005
|
|
NM_001972.4(ELANE):c.373G>A (p.Gly125Arg)
|
rs377698556
|
0.00005
|
|
NM_001972.4(ELANE):c.637C>T (p.His213Tyr)
|
rs201326533
|
0.00005
|
|
NM_001972.4(ELANE):c.68-19G>A
|
rs199933756
|
0.00005
|
|
NM_003467.3(CXCR4):c.219G>A (p.Thr73=)
|
rs909200339
|
0.00005
|
|
NM_003467.3(CXCR4):c.582G>C (p.Leu194Phe)
|
rs769772228
|
0.00005
|
|
NM_003467.3(CXCR4):c.748G>A (p.Ala250Thr)
|
rs771851938
|
0.00005
|
|
NM_003664.5(AP3B1):c.1704C>T (p.Tyr568=)
|
rs376978572
|
0.00005
|
|
NM_003664.5(AP3B1):c.532T>C (p.Tyr178His)
|
rs777268122
|
0.00005
|
|
NM_003664.5(AP3B1):c.603+20G>A
|
rs377222228
|
0.00005
|
|
NM_005263.5(GFI1):c.736A>G (p.Thr246Ala)
|
rs764922701
|
0.00005
|
|
NM_005263.5(GFI1):c.924+17C>G
|
rs781185536
|
0.00005
|
|
NM_006118.4(HAX1):c.53+11G>A
|
rs372098620
|
0.00005
|
|
NM_006118.4(HAX1):c.676C>T (p.Arg226Cys)
|
rs765780829
|
0.00005
|
|
NM_006118.4(HAX1):c.725G>A (p.Arg242Gln)
|
rs763822514
|
0.00005
|
|
NM_006118.4(HAX1):c.835C>T (p.Arg279Trp)
|
rs780000169
|
0.00005
|
|
NM_007259.5(VPS45):c.577-5C>T
|
rs1266646389
|
0.00005
|
|
NM_007259.5(VPS45):c.687G>C (p.Gln229His)
|
rs200019200
|
0.00005
|
|
NM_007259.5(VPS45):c.939G>A (p.Ala313=)
|
rs142461153
|
0.00005
|
|
NM_138387.4(G6PC3):c.-231A>G
|
rs886052983
|
0.00005
|
|
NM_138387.4(G6PC3):c.677+9C>T
|
rs770887459
|
0.00005
|
|
NM_152564.5(VPS13B):c.*705T>C
|
rs886062554
|
0.00005
|
|
NM_152564.5(VPS13B):c.10626G>A (p.Val3542=)
|
rs139227281
|
0.00005
|
|
NM_152564.5(VPS13B):c.10755C>T (p.Asp3585=)
|
rs145950999
|
0.00005
|
|
NM_152564.5(VPS13B):c.10939G>A (p.Ala3647Thr)
|
rs868118584
|
0.00005
|
|
NM_152564.5(VPS13B):c.11240A>G (p.Gln3747Arg)
|
rs779751988
|
0.00005
|
|
NM_152564.5(VPS13B):c.1530C>T (p.Arg510=)
|
rs149919865
|
0.00005
|
|
NM_152564.5(VPS13B):c.1652-9T>A
|
rs375615155
|
0.00005
|
|
NM_152564.5(VPS13B):c.1754G>A (p.Arg585His)
|
rs773472945
|
0.00005
|
|
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr)
|
rs148788159
|
0.00005
|
|
NM_152564.5(VPS13B):c.2650+17C>T
|
rs753268999
|
0.00005
|
|
NM_152564.5(VPS13B):c.291+19A>G
|
rs200474579
|
0.00005
|
|
NM_152564.5(VPS13B):c.3180T>C (p.Val1060=)
|
rs528478636
|
0.00005
|
|
NM_152564.5(VPS13B):c.3379G>T (p.Gly1127Trp)
|
rs117357319
|
0.00005
|
|
NM_152564.5(VPS13B):c.3873A>G (p.Gly1291=)
|
rs772263007
|
0.00005
|
|
NM_152564.5(VPS13B):c.4876G>A (p.Val1626Ile)
|
rs138577821
|
0.00005
|
|
NM_152564.5(VPS13B):c.5054C>T (p.Ser1685Phe)
|
rs763052877
|
0.00005
|
|
NM_152564.5(VPS13B):c.5909-14T>C
|
rs377274392
|
0.00005
|
|
NM_152564.5(VPS13B):c.6056A>G (p.Asn2019Ser)
|
rs534471615
|
0.00005
|
|
NM_152564.5(VPS13B):c.6713A>G (p.Asn2238Ser)
|
rs141275433
|
0.00005
|
|
NM_152564.5(VPS13B):c.6983C>G (p.Thr2328Ser)
|
rs764775015
|
0.00005
|
|
NM_152564.5(VPS13B):c.7151C>T (p.Pro2384Leu)
|
rs183874686
|
0.00005
|
|
NM_152564.5(VPS13B):c.7718T>C (p.Phe2573Ser)
|
rs199528303
|
0.00005
|
|
NM_152564.5(VPS13B):c.8423A>G (p.Asn2808Ser)
|
rs368357351
|
0.00005
|
|
NM_152564.5(VPS13B):c.9608G>C (p.Cys3203Ser)
|
rs747611342
|
0.00005
|
|
NM_183235.3(RAB27A):c.276T>C (p.Ala92=)
|
rs376589113
|
0.00005
|
|
NM_000081.4(LYST):c.110C>T (p.Thr37Met)
|
rs375106444
|
0.00004
|
|
NM_000081.4(LYST):c.11354G>A (p.Arg3785His)
|
rs370173269
|
0.00004
|
|
NM_000081.4(LYST):c.1290G>A (p.Met430Ile)
|
rs779163460
|
0.00004
|
|
NM_000081.4(LYST):c.1390G>A (p.Glu464Lys)
|
rs374284011
|
0.00004
|
|
NM_000081.4(LYST):c.1541G>A (p.Arg514Gln)
|
rs564745712
|
0.00004
|
|
NM_000081.4(LYST):c.2745T>G (p.Ser915=)
|
rs200179826
|
0.00004
|
|
NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala)
|
rs559751044
|
0.00004
|
|
NM_000081.4(LYST):c.3465A>G (p.Gln1155=)
|
rs142982293
|
0.00004
|
|
NM_000081.4(LYST):c.3876A>G (p.Val1292=)
|
rs144664809
|
0.00004
|
|
NM_000081.4(LYST):c.3940-5T>C
|
rs757967032
|
0.00004
|
|
NM_000081.4(LYST):c.4705A>C (p.Asn1569His)
|
rs767687843
|
0.00004
|
|
NM_000081.4(LYST):c.5061T>C (p.Tyr1687=)
|
rs80338658
|
0.00004
|
|
NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu)
|
rs756651685
|
0.00004
|
|
NM_000081.4(LYST):c.6737T>G (p.Leu2246Arg)
|
rs200231136
|
0.00004
|
|
NM_000081.4(LYST):c.7690G>A (p.Ala2564Thr)
|
rs759733310
|
0.00004
|
|
NM_000081.4(LYST):c.8607A>G (p.Gln2869=)
|
rs369484787
|
0.00004
|
|
NM_000081.4(LYST):c.9616G>C (p.Asp3206His)
|
rs746911004
|
0.00004
|
|
NM_000081.4(LYST):c.9804A>G (p.Pro3268=)
|
rs368740409
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.543G>A (p.Gly181=)
|
rs782471244
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.583+10G>A
|
rs370536414
|
0.00004
|
|
NM_000116.5(TAFAZZIN):c.584-7T>C
|
rs397515745
|
0.00004
|
|
NM_000377.3(WAS):c.1150C>T (p.Pro384Ser)
|
rs782761074
|
0.00004
|
|
NM_000377.3(WAS):c.463+3G>C
|
rs1274245256
|
0.00004
|
|
NM_000760.4(CSF3R):c.1027C>T (p.Arg343Trp)
|
rs752325760
|
0.00004
|
|
NM_000760.4(CSF3R):c.1101G>C (p.Arg367=)
|
rs1447131096
|
0.00004
|
|
NM_000760.4(CSF3R):c.1263G>A (p.Pro421=)
|
rs768308980
|
0.00004
|
|
NM_000760.4(CSF3R):c.1408G>A (p.Ala470Thr)
|
rs748675453
|
0.00004
|
|
NM_000760.4(CSF3R):c.1427C>G (p.Thr476Ser)
|
rs374610386
|
0.00004
|
|
NM_000760.4(CSF3R):c.146A>G (p.Lys49Arg)
|
rs766274573
|
0.00004
|
|
NM_000760.4(CSF3R):c.1613T>C (p.Ile538Thr)
|
rs756719784
|
0.00004
|
|
NM_000760.4(CSF3R):c.1680C>G (p.Thr560=)
|
rs748313890
|
0.00004
|
|
NM_000760.4(CSF3R):c.1871C>T (p.Ser624Leu)
|
rs144754091
|
0.00004
|
|
NM_000760.4(CSF3R):c.1872G>A (p.Ser624=)
|
rs145218850
|
0.00004
|
|
NM_000760.4(CSF3R):c.673+20G>A
|
rs926138175
|
0.00004
|
|
NM_000760.4(CSF3R):c.722C>T (p.Ala241Val)
|
rs199991273
|
0.00004
|
|
NM_000760.4(CSF3R):c.816G>A (p.Pro272=)
|
rs200668866
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1124+25T>C
|
rs782603352
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1125-41C>T
|
rs782175115
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.112T>C (p.Leu38=)
|
rs376965474
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)
|
rs863224212
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)
|
rs121908979
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.382-17C>T
|
rs1369693461
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.626+13C>T
|
rs746096087
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe)
|
rs782616313
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.785+3A>G
|
rs373543021
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.871+17G>T
|
rs199848791
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.985+248G>A
|
rs369907198
|
0.00004
|
|
NM_001164277.2(SLC37A4):c.986-11G>A
|
rs1487063543
|
0.00004
|
|
NM_001261826.3(AP3D1):c.2936C>T (p.Pro979Leu)
|
rs776432599
|
0.00004
|
|
NM_001972.4(ELANE):c.321C>T (p.Asn107=)
|
rs200786414
|
0.00004
|
|
NM_001972.4(ELANE):c.333C>G (p.Pro111=)
|
rs774932781
|
0.00004
|
|
NM_001972.4(ELANE):c.372C>T (p.Asn124=)
|
rs200595736
|
0.00004
|
|
NM_001972.4(ELANE):c.380C>T (p.Ala127Val)
|
rs781705775
|
0.00004
|
|
NM_001972.4(ELANE):c.456G>A (p.Leu152=)
|
rs200599820
|
0.00004
|
|
NM_001972.4(ELANE):c.495C>T (p.Ile165=)
|
rs200923638
|
0.00004
|
|
NM_001972.4(ELANE):c.564T>C (p.Thr188=)
|
rs1183281178
|
0.00004
|
|
NM_001972.4(ELANE):c.565C>A (p.Leu189Ile)
|
rs200592180
|
0.00004
|
|
NM_001972.4(ELANE):c.568G>A (p.Val190Met)
|
rs367663236
|
0.00004
|
|
NM_001972.4(ELANE):c.658C>T (p.Arg220Trp)
|
rs538571617
|
0.00004
|
|
NM_001972.4(ELANE):c.70A>C (p.Thr24Pro)
|
rs367677280
|
0.00004
|
|
NM_001972.4(ELANE):c.711G>A (p.Gln237=)
|
rs201714374
|
0.00004
|
|
NM_003467.3(CXCR4):c.87C>T (p.Phe29=)
|
rs768296315
|
0.00004
|
|
NM_003664.5(AP3B1):c.1325G>A (p.Cys442Tyr)
|
rs1032054339
|
0.00004
|
|
NM_003664.5(AP3B1):c.1821T>C (p.Leu607=)
|
rs768721394
|
0.00004
|
|
NM_003664.5(AP3B1):c.1837+16A>G
|
rs757331102
|
0.00004
|
|
NM_003664.5(AP3B1):c.1838-5A>G
|
rs779897317
|
0.00004
|
|
NM_003664.5(AP3B1):c.1862C>G (p.Thr621Ser)
|
rs796196281
|
0.00004
|
|
NM_003664.5(AP3B1):c.196A>G (p.Ile66Val)
|
rs779404585
|
0.00004
|
|
NM_003664.5(AP3B1):c.2132A>T (p.Asp711Val)
|
rs145162631
|
0.00004
|
|
NM_003664.5(AP3B1):c.3254G>A (p.Arg1085Gln)
|
rs151028592
|
0.00004
|
|
NM_003664.5(AP3B1):c.32A>G (p.Gln11Arg)
|
rs764312417
|
0.00004
|
|
NM_003664.5(AP3B1):c.388C>T (p.Leu130=)
|
rs138774723
|
0.00004
|
|
NM_003664.5(AP3B1):c.536+20del
|
rs773391461
|
0.00004
|
|
NM_003664.5(AP3B1):c.648G>A (p.Pro216=)
|
rs773924247
|
0.00004
|
|
NM_003664.5(AP3B1):c.854A>G (p.Asp285Gly)
|
rs554863664
|
0.00004
|
|
NM_005263.5(GFI1):c.1076C>T (p.Thr359Ile)
|
rs1234266152
|
0.00004
|
|
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)
|
rs28936382
|
0.00004
|
|
NM_005263.5(GFI1):c.252G>C (p.Ser84=)
|
rs140302204
|
0.00004
|
|
NM_005263.5(GFI1):c.391G>A (p.Asp131Asn)
|
rs750742235
|
0.00004
|
|
NM_005263.5(GFI1):c.569G>C (p.Gly190Ala)
|
rs528437159
|
0.00004
|
|
NM_005263.5(GFI1):c.571G>A (p.Ala191Thr)
|
rs1426616222
|
0.00004
|
|
NM_005263.5(GFI1):c.662T>A (p.Leu221Gln)
|
rs370626442
|
0.00004
|
|
NM_005263.5(GFI1):c.673C>T (p.Arg225Cys)
|
rs758843797
|
0.00004
|
|
NM_005263.5(GFI1):c.713A>G (p.Lys238Arg)
|
rs757156744
|
0.00004
|
|
NM_005263.5(GFI1):c.733T>C (p.Cys245Arg)
|
rs775151292
|
0.00004
|
|
NM_005263.5(GFI1):c.924+13C>T
|
rs745901225
|
0.00004
|
|
NM_006118.4(HAX1):c.221G>A (p.Arg74His)
|
rs151225652
|
0.00004
|
|
NM_006118.4(HAX1):c.339G>C (p.Glu113Asp)
|
rs367673863
|
0.00004
|
|
NM_006118.4(HAX1):c.376C>T (p.Arg126Trp)
|
rs765538745
|
0.00004
|
|
NM_006118.4(HAX1):c.505-16A>G
|
rs551835048
|
0.00004
|
|
NM_006118.4(HAX1):c.525G>A (p.Met175Ile)
|
rs747655324
|
0.00004
|
|
NM_006118.4(HAX1):c.568C>T (p.Gln190Ter)
|
rs74315322
|
0.00004
|
|
NM_006118.4(HAX1):c.574T>C (p.Ser192Pro)
|
rs751426915
|
0.00004
|
|
NM_006118.4(HAX1):c.724C>T (p.Arg242Ter)
|
rs760377093
|
0.00004
|
|
NM_006118.4(HAX1):c.757C>A (p.Pro253Thr)
|
rs149721308
|
0.00004
|
|
NM_007259.5(VPS45):c.260G>A (p.Arg87Gln)
|
rs183320612
|
0.00004
|
|
NM_007259.5(VPS45):c.290-13T>G
|
rs781872625
|
0.00004
|
|
NM_007259.5(VPS45):c.319G>A (p.Val107Met)
|
rs782553177
|
0.00004
|
|
NM_007259.5(VPS45):c.369+8T>A
|
rs201637627
|
0.00004
|
|
NM_007259.5(VPS45):c.390T>C (p.Ile130=)
|
rs782273593
|
0.00004
|
|
NM_007259.5(VPS45):c.577-17T>C
|
rs367947281
|
0.00004
|
|
NM_007259.5(VPS45):c.822+7G>C
|
rs782697127
|
0.00004
|
|
NM_017890.5(VPS13B):c.4231C>T (p.Arg1411Cys)
|
rs376954713
|
0.00004
|
|
NM_032492.4(JAGN1):c.433G>A (p.Val145Ile)
|
rs759636820
|
0.00004
|
|
NM_032492.4(JAGN1):c.71C>T (p.Ala24Val)
|
rs377495463
|
0.00004
|
|
NM_138387.4(G6PC3):c.10A>G (p.Thr4Ala)
|
rs946155355
|
0.00004
|
|
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)
|
rs775224457
|
0.00004
|
|
NM_138387.4(G6PC3):c.219-4C>A
|
rs1378892385
|
0.00004
|
|
NM_138387.4(G6PC3):c.480G>A (p.Ser160=)
|
rs145419406
|
0.00004
|
|
NM_138387.4(G6PC3):c.484A>G (p.Ile162Val)
|
rs148030756
|
0.00004
|
|
NM_138387.4(G6PC3):c.516G>C (p.Val172=)
|
rs763502623
|
0.00004
|
|
NM_138387.4(G6PC3):c.9C>T (p.Ser3=)
|
rs201749454
|
0.00004
|
|
NM_152564.5(VPS13B):c.*1540T>C
|
rs148026916
|
0.00004
|
|
NM_152564.5(VPS13B):c.-30T>A
|
rs886062533
|
0.00004
|
|
NM_152564.5(VPS13B):c.10200G>A (p.Pro3400=)
|
rs151315104
|
0.00004
|
|
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe)
|
rs200268089
|
0.00004
|
|
NM_152564.5(VPS13B):c.10650C>T (p.His3550=)
|
rs372367817
|
0.00004
|
|
NM_152564.5(VPS13B):c.10714G>A (p.Val3572Ile)
|
rs369258469
|
0.00004
|
|
NM_152564.5(VPS13B):c.10809G>A (p.Ala3603=)
|
rs768029540
|
0.00004
|
|
NM_152564.5(VPS13B):c.10846G>A (p.Ala3616Thr)
|
rs149659649
|
0.00004
|
|
NM_152564.5(VPS13B):c.10890T>C (p.Asp3630=)
|
rs773474909
|
0.00004
|
|
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=)
|
rs745337140
|
0.00004
|
|
NM_152564.5(VPS13B):c.11001C>T (p.Gly3667=)
|
rs367797468
|
0.00004
|
|
NM_152564.5(VPS13B):c.11009G>A (p.Arg3670Lys)
|
rs370172252
|
0.00004
|
|
NM_152564.5(VPS13B):c.11098C>T (p.Arg3700Trp)
|
rs779427167
|
0.00004
|
|
NM_152564.5(VPS13B):c.11129G>A (p.Arg3710Gln)
|
rs987017060
|
0.00004
|
|
NM_152564.5(VPS13B):c.11208C>T (p.Ser3736=)
|
rs751880506
|
0.00004
|
|
NM_152564.5(VPS13B):c.11434C>T (p.Arg3812Cys)
|
rs369891888
|
0.00004
|
|
NM_152564.5(VPS13B):c.11616G>A (p.Val3872=)
|
rs760377055
|
0.00004
|
|
NM_152564.5(VPS13B):c.1168A>G (p.Ile390Val)
|
rs563261178
|
0.00004
|
|
NM_152564.5(VPS13B):c.11883C>G (p.Pro3961=)
|
rs763272836
|
0.00004
|
|
NM_152564.5(VPS13B):c.11973C>T (p.Ala3991=)
|
rs533954733
|
0.00004
|
|
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=)
|
rs765163542
|
0.00004
|
|
NM_152564.5(VPS13B):c.1302+12A>G
|
rs373595907
|
0.00004
|
|
NM_152564.5(VPS13B):c.1365G>A (p.Met455Ile)
|
rs1187769339
|
0.00004
|
|
NM_152564.5(VPS13B):c.1425+9G>A
|
rs551460373
|
0.00004
|
|
NM_152564.5(VPS13B):c.1520A>G (p.Asn507Ser)
|
rs749312835
|
0.00004
|
|
NM_152564.5(VPS13B):c.1564-15T>C
|
rs367784958
|
0.00004
|
|
NM_152564.5(VPS13B):c.1594C>T (p.Arg532Trp)
|
rs369930405
|
0.00004
|
|
NM_152564.5(VPS13B):c.1627A>G (p.Thr543Ala)
|
rs372625091
|
0.00004
|
|
NM_152564.5(VPS13B):c.1748A>G (p.Asp583Gly)
|
rs368595026
|
0.00004
|
|
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His)
|
rs138171489
|
0.00004
|
|
NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)
|
rs398124329
|
0.00004
|
|
NM_152564.5(VPS13B):c.2016C>T (p.Asn672=)
|
rs780448792
|
0.00004
|
|
NM_152564.5(VPS13B):c.2137C>T (p.His713Tyr)
|
rs796181999
|
0.00004
|
|
NM_152564.5(VPS13B):c.2234C>T (p.Thr745Met)
|
rs199574731
|
0.00004
|
|
NM_152564.5(VPS13B):c.2248A>G (p.Ser750Gly)
|
rs112858205
|
0.00004
|
|
NM_152564.5(VPS13B):c.2328A>G (p.Thr776=)
|
rs760800494
|
0.00004
|
|
NM_152564.5(VPS13B):c.2438A>G (p.Gln813Arg)
|
rs146195479
|
0.00004
|
|
NM_152564.5(VPS13B):c.2509A>T (p.Ser837Cys)
|
rs201872788
|
0.00004
|
|
NM_152564.5(VPS13B):c.2651-8C>A
|
rs201628860
|
0.00004
|
|
NM_152564.5(VPS13B):c.2673G>T (p.Leu891Phe)
|
rs770484465
|
0.00004
|
|
NM_152564.5(VPS13B):c.2823C>T (p.Ser941=)
|
rs199881514
|
0.00004
|
|
NM_152564.5(VPS13B):c.2824G>A (p.Gly942Ser)
|
rs370336663
|
0.00004
|
|
NM_152564.5(VPS13B):c.2825-4T>A
|
rs201354177
|
0.00004
|
|
NM_152564.5(VPS13B):c.3082+9C>G
|
rs529476662
|
0.00004
|
|
NM_152564.5(VPS13B):c.3262C>G (p.Pro1088Ala)
|
rs373965494
|
0.00004
|
|
NM_152564.5(VPS13B):c.3432C>T (p.Pro1144=)
|
rs375994361
|
0.00004
|
|
NM_152564.5(VPS13B):c.345C>T (p.Ser115=)
|
rs372489158
|
0.00004
|
|
NM_152564.5(VPS13B):c.3535A>G (p.Met1179Val)
|
rs764040349
|
0.00004
|
|
NM_152564.5(VPS13B):c.3564G>A (p.Thr1188=)
|
rs140905518
|
0.00004
|
|
NM_152564.5(VPS13B):c.3584C>T (p.Thr1195Met)
|
rs778388170
|
0.00004
|
|
NM_152564.5(VPS13B):c.366G>A (p.Pro122=)
|
rs373340298
|
0.00004
|
|
NM_152564.5(VPS13B):c.3784A>G (p.Thr1262Ala)
|
rs199872639
|
0.00004
|
|
NM_152564.5(VPS13B):c.3843A>G (p.Pro1281=)
|
rs766922292
|
0.00004
|
|
NM_152564.5(VPS13B):c.3955A>G (p.Ser1319Gly)
|
rs374363141
|
0.00004
|
|
NM_152564.5(VPS13B):c.4157+5A>G
|
rs201027029
|
0.00004
|
|
NM_152564.5(VPS13B):c.4240C>T (p.Leu1414=)
|
rs754939057
|
0.00004
|
|
NM_152564.5(VPS13B):c.4285A>T (p.Thr1429Ser)
|
rs764653250
|
0.00004
|
|
NM_152564.5(VPS13B):c.4356A>T (p.Leu1452Phe)
|
rs61754112
|
0.00004
|
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
|
NM_152564.5(VPS13B):c.4796A>G (p.Asp1599Gly)
|
rs1288339042
|
0.00004
|
|
NM_152564.5(VPS13B):c.4950-18T>G
|
rs188457078
|
0.00004
|
|
NM_152564.5(VPS13B):c.4950-9A>G
|
rs373474658
|
0.00004
|
|
NM_152564.5(VPS13B):c.5044A>G (p.Lys1682Glu)
|
rs965365158
|
0.00004
|
|
NM_152564.5(VPS13B):c.5077-13G>A
|
rs376055963
|
0.00004
|
|
NM_152564.5(VPS13B):c.510C>T (p.Ser170=)
|
rs749836132
|
0.00004
|
|
NM_152564.5(VPS13B):c.511G>A (p.Val171Ile)
|
rs529286193
|
0.00004
|
|
NM_152564.5(VPS13B):c.5378G>A (p.Arg1793His)
|
rs763703607
|
0.00004
|
|
NM_152564.5(VPS13B):c.5396G>A (p.Arg1799His)
|
rs755227174
|
0.00004
|
|
NM_152564.5(VPS13B):c.557A>G (p.Asp186Gly)
|
rs373678127
|
0.00004
|
|
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys)
|
rs774677234
|
0.00004
|
|
NM_152564.5(VPS13B):c.5636G>A (p.Ser1879Asn)
|
rs760882381
|
0.00004
|
|
NM_152564.5(VPS13B):c.5663T>C (p.Ile1888Thr)
|
rs779082817
|
0.00004
|
|
NM_152564.5(VPS13B):c.6047-10A>G
|
rs761450531
|
0.00004
|
|
NM_152564.5(VPS13B):c.6311C>T (p.Ser2104Phe)
|
rs374298481
|
0.00004
|
|
NM_152564.5(VPS13B):c.6631A>C (p.Ile2211Leu)
|
rs369932118
|
0.00004
|
|
NM_152564.5(VPS13B):c.6658-8T>C
|
rs1448547844
|
0.00004
|
|
NM_152564.5(VPS13B):c.6832C>T (p.Arg2278Trp)
|
rs781460252
|
0.00004
|
|
NM_152564.5(VPS13B):c.6890A>C (p.Tyr2297Ser)
|
rs750125340
|
0.00004
|
|
NM_152564.5(VPS13B):c.6979A>G (p.Ile2327Val)
|
rs761504023
|
0.00004
|
|
NM_152564.5(VPS13B):c.7245A>G (p.Gln2415=)
|
rs781046978
|
0.00004
|
|
NM_152564.5(VPS13B):c.7291G>A (p.Val2431Met)
|
rs138405323
|
0.00004
|
|
NM_152564.5(VPS13B):c.7429+4C>A
|
rs757079639
|
0.00004
|
|
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu)
|
rs144668374
|
0.00004
|
|
NM_152564.5(VPS13B):c.7848A>G (p.Thr2616=)
|
rs757256533
|
0.00004
|
|
NM_152564.5(VPS13B):c.8097+19A>G
|
rs1200902916
|
0.00004
|
|
NM_152564.5(VPS13B):c.8390A>G (p.Tyr2797Cys)
|
rs371325199
|
0.00004
|
|
NM_152564.5(VPS13B):c.8713A>C (p.Asn2905His)
|
rs770344131
|
0.00004
|
|
NM_152564.5(VPS13B):c.8994+16T>A
|
rs764950051
|
0.00004
|
|
NM_152564.5(VPS13B):c.9135G>A (p.Ala3045=)
|
rs574238919
|
0.00004
|
|
NM_152564.5(VPS13B):c.9568G>C (p.Val3190Leu)
|
rs775768806
|
0.00004
|
|
NM_152564.5(VPS13B):c.9593G>A (p.Arg3198Gln)
|
rs544366805
|
0.00004
|
|
NM_152564.5(VPS13B):c.9742+18G>A
|
rs747567587
|
0.00004
|
|
NM_152564.5(VPS13B):c.9745A>G (p.Ile3249Val)
|
rs1314210823
|
0.00004
|
|
NM_152564.5(VPS13B):c.9786G>A (p.Glu3262=)
|
rs138221649
|
0.00004
|
|
NM_152564.5(VPS13B):c.9876T>G (p.Val3292=)
|
rs143728471
|
0.00004
|
|
NM_152564.5(VPS13B):c.9921C>T (p.Asp3307=)
|
rs754001219
|
0.00004
|
|
NM_152564.5(VPS13B):c.9993G>A (p.Gln3331=)
|
rs201746251
|
0.00004
|
|
NM_183235.3(RAB27A):c.-142-84C>T
|
rs992388018
|
0.00004
|
|
NM_183235.3(RAB27A):c.168T>C (p.Ser56=)
|
rs376232909
|
0.00004
|
|
NM_183235.3(RAB27A):c.257C>T (p.Thr86Ile)
|
rs369777755
|
0.00004
|
|
NM_183235.3(RAB27A):c.344G>A (p.Ser115Asn)
|
rs183582444
|
0.00004
|
|
NM_183235.3(RAB27A):c.383T>C (p.Ile128Thr)
|
rs143719577
|
0.00004
|
|
NM_183235.3(RAB27A):c.467G>C (p.Gly156Ala)
|
rs200031368
|
0.00004
|
|
NM_183235.3(RAB27A):c.49G>A (p.Asp17Asn)
|
rs777995262
|
0.00004
|
|
NM_183235.3(RAB27A):c.620C>T (p.Thr207Met)
|
rs151048993
|
0.00004
|
|
NM_000081.4(LYST):c.10758C>T (p.Cys3586=)
|
rs145136281
|
0.00003
|
|
NM_000081.4(LYST):c.10870G>A (p.Val3624Ile)
|
rs776033238
|
0.00003
|
|
NM_000081.4(LYST):c.10965G>C (p.Ala3655=)
|
rs762254542
|
0.00003
|
|
NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)
|
rs140284566
|
0.00003
|
|
NM_000081.4(LYST):c.2679T>G (p.Val893=)
|
rs765192422
|
0.00003
|
|
NM_000081.4(LYST):c.3177T>C (p.Ala1059=)
|
rs371576746
|
0.00003
|
|
NM_000081.4(LYST):c.4566A>C (p.Ala1522=)
|
rs142344106
|
0.00003
|
|
NM_000081.4(LYST):c.4632C>T (p.Ser1544=)
|
rs373930104
|
0.00003
|
|
NM_000081.4(LYST):c.6264C>T (p.Ser2088=)
|
rs748529967
|
0.00003
|
|
NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)
|
rs186152859
|
0.00003
|
|
NM_000081.4(LYST):c.7997T>A (p.Ile2666Asn)
|
rs369246831
|
0.00003
|
|
NM_000081.4(LYST):c.8259G>A (p.Ser2753=)
|
rs116017878
|
0.00003
|
|
NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr)
|
rs200813210
|
0.00003
|
|
NM_000081.4(LYST):c.85G>A (p.Ala29Thr)
|
rs755173231
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu)
|
rs1223065368
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.321G>A (p.Glu107=)
|
rs143525004
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.48C>G (p.Thr16=)
|
rs397515743
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.591G>T (p.Gly197=)
|
rs150583937
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu)
|
rs375151766
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val)
|
rs200909606
|
0.00003
|
|
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys)
|
rs782498694
|
0.00003
|
|
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr)
|
rs3218716
|
0.00003
|
|
NM_000377.3(WAS):c.133-18C>T
|
rs782578064
|
0.00003
|
|
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)
|
rs782636781
|
0.00003
|
|
NM_000377.3(WAS):c.339C>T (p.Phe113=)
|
rs782233413
|
0.00003
|
|
NM_000377.3(WAS):c.463+14A>C
|
rs1338084492
|
0.00003
|
|
NM_000377.3(WAS):c.594G>A (p.Ala198=)
|
rs376545922
|
0.00003
|
|
NM_000377.3(WAS):c.912G>A (p.Arg304=)
|
rs782572275
|
0.00003
|
|
NM_000760.4(CSF3R):c.103A>G (p.Ile35Val)
|
rs755370892
|
0.00003
|
|
NM_000760.4(CSF3R):c.1044C>T (p.Asp348=)
|
rs766845092
|
0.00003
|
|
NM_000760.4(CSF3R):c.1224T>A (p.Leu408=)
|
rs754281164
|
0.00003
|
|
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter)
|
rs374536805
|
0.00003
|
|
NM_000760.4(CSF3R):c.1474+15G>C
|
rs769098766
|
0.00003
|
|
NM_000760.4(CSF3R):c.2069C>T (p.Thr690Met)
|
rs764345289
|
0.00003
|
|
NM_000760.4(CSF3R):c.2451C>T (p.Leu817=)
|
rs374780980
|
0.00003
|
|
NM_000760.4(CSF3R):c.2495C>T (p.Ala832Val)
|
rs372972496
|
0.00003
|
|
NM_000760.4(CSF3R):c.456A>G (p.Leu152=)
|
rs373296999
|
0.00003
|
|
NM_000760.4(CSF3R):c.486-17G>A
|
rs377125326
|
0.00003
|
|
NM_000760.4(CSF3R):c.490C>T (p.Arg164Trp)
|
rs762191036
|
0.00003
|
|
NM_000760.4(CSF3R):c.625C>T (p.Leu209=)
|
rs768328227
|
0.00003
|
|
NM_000760.4(CSF3R):c.826G>A (p.Glu276Lys)
|
rs201037400
|
0.00003
|
|
NM_000760.4(CSF3R):c.90T>C (p.Ser30=)
|
rs376890968
|
0.00003
|
|
NM_000760.4(CSF3R):c.923G>A (p.Arg308His)
|
rs148747030
|
0.00003
|
|
NM_000760.4(CSF3R):c.991G>A (p.Glu331Lys)
|
rs748394788
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.-535G>C
|
rs138523194
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.171G>A (p.Ser57=)
|
rs782713974
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.381+15A>G
|
rs1057520372
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.390G>A (p.Glu130=)
|
rs752687782
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.630C>T (p.Ser210=)
|
rs1470803048
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.834C>T (p.Ile278=)
|
rs781864019
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro)
|
rs886042302
|
0.00003
|
|
NM_001164277.2(SLC37A4):c.986-18C>T
|
rs374784735
|
0.00003
|
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
|
NM_001972.4(ELANE):c.100C>T (p.Arg34Trp)
|
rs201163886
|
0.00003
|
|
NM_001972.4(ELANE):c.201G>T (p.Ser67=)
|
rs200254961
|
0.00003
|
|
NM_001972.4(ELANE):c.21C>T (p.Leu7=)
|
rs200666143
|
0.00003
|
|
NM_001972.4(ELANE):c.225-8C>T
|
rs771866084
|
0.00003
|
|
NM_001972.4(ELANE):c.24G>A (p.Ala8=)
|
rs199901033
|
0.00003
|
|
NM_001972.4(ELANE):c.275G>A (p.Arg92Gln)
|
rs755088297
|
0.00003
|
|
NM_001972.4(ELANE):c.367-7G>A
|
rs201878637
|
0.00003
|
|
NM_001972.4(ELANE):c.502G>A (p.Val168Ile)
|
rs201313263
|
0.00003
|
|
NM_001972.4(ELANE):c.627C>T (p.Asn209=)
|
rs201664319
|
0.00003
|
|
NM_001972.4(ELANE):c.659G>A (p.Arg220Gln)
|
rs137854445
|
0.00003
|
|
NM_001972.4(ELANE):c.773G>A (p.Arg258Gln)
|
rs202234596
|
0.00003
|
|
NM_003467.3(CXCR4):c.250G>C (p.Asp84His)
|
rs368016542
|
0.00003
|
|
NM_003467.3(CXCR4):c.420C>T (p.His140=)
|
rs774159824
|
0.00003
|
|
NM_003664.5(AP3B1):c.1075A>G (p.Thr359Ala)
|
rs148160411
|
0.00003
|
|
NM_003664.5(AP3B1):c.1095+20G>A
|
rs1003488988
|
0.00003
|
|
NM_003664.5(AP3B1):c.1168-3T>C
|
rs751674819
|
0.00003
|
|
NM_003664.5(AP3B1):c.1322C>T (p.Thr441Met)
|
rs556341477
|
0.00003
|
|
NM_003664.5(AP3B1):c.1473+11A>G
|
rs373481590
|
0.00003
|
|
NM_003664.5(AP3B1):c.193C>T (p.Arg65Trp)
|
rs758616866
|
0.00003
|
|
NM_003664.5(AP3B1):c.2172G>A (p.Gln724=)
|
rs551799202
|
0.00003
|
|
NM_003664.5(AP3B1):c.2572A>G (p.Ile858Val)
|
rs150765181
|
0.00003
|
|
NM_003664.5(AP3B1):c.279+6G>A
|
rs1269853831
|
0.00003
|
|
NM_003664.5(AP3B1):c.2987A>G (p.Glu996Gly)
|
rs746992047
|
0.00003
|
|
NM_003664.5(AP3B1):c.2992+10G>A
|
rs375250754
|
0.00003
|
|
NM_003664.5(AP3B1):c.3054T>C (p.Thr1018=)
|
rs746152289
|
0.00003
|
|
NM_003664.5(AP3B1):c.519A>G (p.Ala173=)
|
rs747459337
|
0.00003
|
|
NM_003664.5(AP3B1):c.603+19C>T
|
rs201278348
|
0.00003
|
|
NM_003664.5(AP3B1):c.679C>T (p.Arg227Cys)
|
rs748972774
|
0.00003
|
|
NM_003664.5(AP3B1):c.785A>G (p.Glu262Gly)
|
rs756321242
|
0.00003
|
|
NM_003664.5(AP3B1):c.877A>G (p.Met293Val)
|
rs538390986
|
0.00003
|
|
NM_005263.5(GFI1):c.1119C>T (p.Cys373=)
|
rs780643435
|
0.00003
|
|
NM_005263.5(GFI1):c.187G>A (p.Glu63Lys)
|
rs527842565
|
0.00003
|
|
NM_005263.5(GFI1):c.617C>T (p.Ala206Val)
|
rs368471074
|
0.00003
|
|
NM_005263.5(GFI1):c.804C>T (p.His268=)
|
rs376949976
|
0.00003
|
|
NM_006118.4(HAX1):c.444T>C (p.Asp148=)
|
rs114295590
|
0.00003
|
|
NM_006118.4(HAX1):c.594G>A (p.Pro198=)
|
rs752302439
|
0.00003
|
|
NM_006118.4(HAX1):c.704G>A (p.Arg235Gln)
|
rs139138892
|
0.00003
|
|
NM_007259.5(VPS45):c.1019G>A (p.Arg340Gln)
|
rs782749137
|
0.00003
|
|
NM_007259.5(VPS45):c.1272T>C (p.Ser424=)
|
rs1476538589
|
0.00003
|
|
NM_007259.5(VPS45):c.756G>T (p.Val252=)
|
rs375831361
|
0.00003
|
|
NM_007259.5(VPS45):c.780A>G (p.Arg260=)
|
rs1301783999
|
0.00003
|
|
NM_024598.4(USB1):c.1A>G (p.Met1Val)
|
rs760648279
|
0.00003
|
|
NM_032383.5(HPS3):c.1870G>T (p.Glu624Ter)
|
rs200079039
|
0.00003
|
|
NM_032492.4(JAGN1):c.184C>T (p.Leu62Phe)
|
rs768937406
|
0.00003
|
|
NM_032492.4(JAGN1):c.211C>T (p.Pro71Ser)
|
rs200023062
|
0.00003
|
|
NM_032492.4(JAGN1):c.27G>A (p.Ala9=)
|
rs764805098
|
0.00003
|
|
NM_032492.4(JAGN1):c.336C>T (p.Ile112=)
|
rs368122140
|
0.00003
|
|
NM_032492.4(JAGN1):c.3G>A (p.Met1Ile)
|
rs587777727
|
0.00003
|
|
NM_138387.4(G6PC3):c.207dup (p.Ile70fs)
|
rs1191239079
|
0.00003
|
|
NM_138387.4(G6PC3):c.219-13T>C
|
rs773122600
|
0.00003
|
|
NM_138387.4(G6PC3):c.413G>A (p.Arg138His)
|
rs763535974
|
0.00003
|
|
NM_138387.4(G6PC3):c.536-10A>T
|
rs866805011
|
0.00003
|
|
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)
|
rs745582203
|
0.00003
|
|
NM_138387.4(G6PC3):c.574A>G (p.Met192Val)
|
rs774843962
|
0.00003
|
|
NM_138387.4(G6PC3):c.581G>A (p.Arg194Gln)
|
rs759401453
|
0.00003
|
|
NM_138387.4(G6PC3):c.59C>T (p.Ala20Val)
|
rs777505318
|
0.00003
|
|
NM_138387.4(G6PC3):c.710G>A (p.Arg237Gln)
|
rs768565958
|
0.00003
|
|
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)
|
rs748931188
|
0.00003
|
|
NM_138387.4(G6PC3):c.938A>G (p.Asn313Ser)
|
rs202163545
|
0.00003
|
|
NM_152564.5(VPS13B):c.*140G>A
|
rs535987441
|
0.00003
|
|
NM_152564.5(VPS13B):c.*637C>G
|
rs565441903
|
0.00003
|
|
NM_152564.5(VPS13B):c.10082C>A (p.Thr3361Lys)
|
rs1219748926
|
0.00003
|
|
NM_152564.5(VPS13B):c.10533A>G (p.Thr3511=)
|
rs763725361
|
0.00003
|
|
NM_152564.5(VPS13B):c.10565C>T (p.Thr3522Ile)
|
rs781253026
|
0.00003
|
|
NM_152564.5(VPS13B):c.10611C>T (p.Ser3537=)
|
rs779390295
|
0.00003
|
|
NM_152564.5(VPS13B):c.10643C>T (p.Thr3548Ile)
|
rs750693109
|
0.00003
|
|
NM_152564.5(VPS13B):c.10713C>T (p.Leu3571=)
|
rs756468150
|
0.00003
|
|
NM_152564.5(VPS13B):c.10725C>T (p.His3575=)
|
rs757408143
|
0.00003
|
|
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn)
|
rs201965789
|
0.00003
|
|
NM_152564.5(VPS13B):c.10827C>G (p.Ala3609=)
|
rs765577341
|
0.00003
|
|
NM_152564.5(VPS13B):c.10868-18C>T
|
rs755945215
|
0.00003
|
|
NM_152564.5(VPS13B):c.11021C>T (p.Ser3674Leu)
|
rs771376605
|
0.00003
|
|
NM_152564.5(VPS13B):c.11044+5C>T
|
rs764708878
|
0.00003
|
|
NM_152564.5(VPS13B):c.11086C>T (p.Arg3696Trp)
|
rs147891367
|
0.00003
|
|
NM_152564.5(VPS13B):c.11146C>T (p.Arg3716Trp)
|
rs773324603
|
0.00003
|
|
NM_152564.5(VPS13B):c.1121C>T (p.Thr374Ile)
|
rs753781360
|
0.00003
|
|
NM_152564.5(VPS13B):c.11523A>T (p.Pro3841=)
|
rs755978513
|
0.00003
|
|
NM_152564.5(VPS13B):c.11710C>G (p.Gln3904Glu)
|
rs545957190
|
0.00003
|
|
NM_152564.5(VPS13B):c.11745+5G>A
|
rs398124328
|
0.00003
|
|
NM_152564.5(VPS13B):c.1206+23T>A
|
rs745316537
|
0.00003
|
|
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=)
|
rs760564848
|
0.00003
|
|
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr)
|
rs768721417
|
0.00003
|
|
NM_152564.5(VPS13B):c.1904A>G (p.Tyr635Cys)
|
rs761692416
|
0.00003
|
|
NM_152564.5(VPS13B):c.2235G>A (p.Thr745=)
|
rs557250154
|
0.00003
|
|
NM_152564.5(VPS13B):c.2322C>T (p.Leu774=)
|
rs376216240
|
0.00003
|
|
NM_152564.5(VPS13B):c.2628A>G (p.Ile876Met)
|
rs1198845715
|
0.00003
|
|
NM_152564.5(VPS13B):c.2687A>G (p.Gln896Arg)
|
rs1269673113
|
0.00003
|
|
NM_152564.5(VPS13B):c.2808C>T (p.Asp936=)
|
rs377174760
|
0.00003
|
|
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met)
|
rs547184348
|
0.00003
|
|
NM_152564.5(VPS13B):c.2935-4C>T
|
rs207469601
|
0.00003
|
|
NM_152564.5(VPS13B):c.3089G>A (p.Arg1030His)
|
rs182764947
|
0.00003
|
|
NM_152564.5(VPS13B):c.3363A>G (p.Ile1121Met)
|
rs191099208
|
0.00003
|
|
NM_152564.5(VPS13B):c.3568C>A (p.Gln1190Lys)
|
rs1819175134
|
0.00003
|
|
NM_152564.5(VPS13B):c.3666+6T>C
|
rs374468508
|
0.00003
|
|
NM_152564.5(VPS13B):c.3871-8C>T
|
rs371508311
|
0.00003
|
|
NM_152564.5(VPS13B):c.3962G>A (p.Arg1321His)
|
rs200229383
|
0.00003
|
|
NM_152564.5(VPS13B):c.450T>C (p.Asn150=)
|
rs746257136
|
0.00003
|
|
NM_152564.5(VPS13B):c.4569T>A (p.Tyr1523Ter)
|
rs1361356353
|
0.00003
|
|
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val)
|
rs578203757
|
0.00003
|
|
NM_152564.5(VPS13B):c.4772G>A (p.Arg1591Gln)
|
rs754267693
|
0.00003
|
|
NM_152564.5(VPS13B):c.5012G>A (p.Arg1671Gln)
|
rs565360322
|
0.00003
|
|
NM_152564.5(VPS13B):c.5072C>G (p.Thr1691Ser)
|
rs966152558
|
0.00003
|
|
NM_152564.5(VPS13B):c.5270C>T (p.Ala1757Val)
|
rs1055918734
|
0.00003
|
|
NM_152564.5(VPS13B):c.5660A>C (p.Lys1887Thr)
|
rs757219665
|
0.00003
|
|
NM_152564.5(VPS13B):c.5667G>A (p.Gly1889=)
|
rs1196457576
|
0.00003
|
|
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala)
|
rs112749780
|
0.00003
|
|
NM_152564.5(VPS13B):c.581-10T>C
|
rs770058631
|
0.00003
|
|
NM_152564.5(VPS13B):c.604G>T (p.Val202Phe)
|
rs759411797
|
0.00003
|
|
NM_152564.5(VPS13B):c.6095T>G (p.Phe2032Cys)
|
rs1226670439
|
0.00003
|
|
NM_152564.5(VPS13B):c.6528C>T (p.Ser2176=)
|
rs752917912
|
0.00003
|
|
NM_152564.5(VPS13B):c.6539T>C (p.Ile2180Thr)
|
rs1037803923
|
0.00003
|
|
NM_152564.5(VPS13B):c.6652C>A (p.Leu2218Ile)
|
rs559107679
|
0.00003
|
|
NM_152564.5(VPS13B):c.7156A>G (p.Ile2386Val)
|
rs370689956
|
0.00003
|
|
NM_152564.5(VPS13B):c.723A>G (p.Thr241=)
|
rs778049327
|
0.00003
|
|
NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
|
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=)
|
rs886043216
|
0.00003
|
|
NM_152564.5(VPS13B):c.7319C>T (p.Thr2440Ile)
|
rs777428883
|
0.00003
|
|
NM_152564.5(VPS13B):c.7529G>A (p.Arg2510Gln)
|
rs146092684
|
0.00003
|
|
NM_152564.5(VPS13B):c.7620A>C (p.Gln2540His)
|
rs1333115796
|
0.00003
|
|
NM_152564.5(VPS13B):c.7853G>A (p.Arg2618Gln)
|
rs569563358
|
0.00003
|
|
NM_152564.5(VPS13B):c.8087T>C (p.Val2696Ala)
|
rs755015601
|
0.00003
|
|
NM_152564.5(VPS13B):c.8161G>A (p.Val2721Ile)
|
rs748674763
|
0.00003
|
|
NM_152564.5(VPS13B):c.8361+13G>A
|
rs757732868
|
0.00003
|
|
NM_152564.5(VPS13B):c.8441G>A (p.Arg2814Gln)
|
rs148333124
|
0.00003
|
|
NM_152564.5(VPS13B):c.8448T>C (p.Ile2816=)
|
rs763701016
|
0.00003
|
|
NM_152564.5(VPS13B):c.8710G>A (p.Val2904Ile)
|
rs750349908
|
0.00003
|
|
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=)
|
rs775883776
|
0.00003
|
|
NM_152564.5(VPS13B):c.8793-13G>T
|
rs374758899
|
0.00003
|
|
NM_152564.5(VPS13B):c.886G>A (p.Glu296Lys)
|
rs886062535
|
0.00003
|
|
NM_152564.5(VPS13B):c.90A>G (p.Leu30=)
|
rs771860546
|
0.00003
|
|
NM_152564.5(VPS13B):c.9421T>C (p.Leu3141=)
|
rs373968887
|
0.00003
|
|
NM_152564.5(VPS13B):c.9425T>C (p.Met3142Thr)
|
rs1044976516
|
0.00003
|
|
NM_152564.5(VPS13B):c.9850T>G (p.Leu3284Val)
|
rs761596624
|
0.00003
|
|
NM_152564.5(VPS13B):c.9942+9G>T
|
rs942110632
|
0.00003
|
|
NM_152564.5(VPS13B):c.99A>G (p.Gly33=)
|
rs775498611
|
0.00003
|
|
NM_183235.3(RAB27A):c.*2334C>A
|
rs886051304
|
0.00003
|
|
NM_183235.3(RAB27A):c.11G>T (p.Gly4Val)
|
rs539575657
|
0.00003
|
|
NM_183235.3(RAB27A):c.252A>G (p.Leu84=)
|
rs4340274
|
0.00003
|
|
NM_183235.3(RAB27A):c.344-10A>G
|
rs199702031
|
0.00003
|
|
NM_183235.3(RAB27A):c.453C>T (p.Leu151=)
|
rs753732362
|
0.00003
|
|
NM_183235.3(RAB27A):c.468-16T>C
|
rs747032887
|
0.00003
|
|
NM_183235.3(RAB27A):c.474C>T (p.Pro158=)
|
rs777485094
|
0.00003
|
|
NM_000081.4(LYST):c.10281C>T (p.Leu3427=)
|
rs1362783408
|
0.00002
|
|
NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser)
|
rs760815034
|
0.00002
|
|
NM_000081.4(LYST):c.10416C>T (p.Tyr3472=)
|
rs757982705
|
0.00002
|
|
NM_000081.4(LYST):c.111G>A (p.Thr37=)
|
rs144446737
|
0.00002
|
|
NM_000081.4(LYST):c.2757G>A (p.Ser919=)
|
rs753541871
|
0.00002
|
|
NM_000081.4(LYST):c.2870T>C (p.Met957Thr)
|
rs201554916
|
0.00002
|
|
NM_000081.4(LYST):c.3354A>G (p.Arg1118=)
|
rs777471673
|
0.00002
|
|
NM_000081.4(LYST):c.3461C>G (p.Thr1154Arg)
|
rs756226516
|
0.00002
|
|
NM_000081.4(LYST):c.4455T>C (p.His1485=)
|
rs372271452
|
0.00002
|
|
NM_000081.4(LYST):c.5833G>A (p.Ala1945Thr)
|
rs750338502
|
0.00002
|
|
NM_000081.4(LYST):c.7631T>C (p.Met2544Thr)
|
rs1371610729
|
0.00002
|
|
NM_000081.4(LYST):c.9834T>C (p.Thr3278=)
|
rs901343967
|
0.00002
|
|
NM_000081.4(LYST):c.9926-9C>G
|
rs772804757
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.*33G>A
|
rs782129745
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.123C>T (p.His41=)
|
rs368329470
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu)
|
rs397515737
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys)
|
rs794729166
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His)
|
rs782196269
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.270G>A (p.Leu90=)
|
rs781986219
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr)
|
rs200405157
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=)
|
rs782564325
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.407G>T (p.Gly136Val)
|
rs782240044
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.437G>T (p.Gly146Val)
|
rs782401618
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=)
|
rs990648341
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile)
|
rs782173851
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.606G>C (p.Glu202Asp)
|
rs781893396
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.768C>G (p.Asn256Lys)
|
rs926124671
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly)
|
rs782746355
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.79T>C (p.Leu27=)
|
rs782716787
|
0.00002
|
|
NM_000116.5(TAFAZZIN):c.801G>A (p.Thr267=)
|
rs781792950
|
0.00002
|
|
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)
|
rs1307143057
|
0.00002
|
|
NM_000377.3(WAS):c.1070G>A (p.Arg357Gln)
|
rs1286831963
|
0.00002
|
|
NM_000377.3(WAS):c.1129C>T (p.Arg377Cys)
|
rs1257775061
|
0.00002
|
|
NM_000377.3(WAS):c.1218C>T (p.Ser406=)
|
rs370053372
|
0.00002
|
|
NM_000377.3(WAS):c.1245C>T (p.Leu415=)
|
rs1557007301
|
0.00002
|
|
NM_000377.3(WAS):c.1253C>T (p.Ala418Val)
|
rs781903491
|
0.00002
|
|
NM_000377.3(WAS):c.1266C>T (p.Ala422=)
|
rs782041815
|
0.00002
|
|
NM_000377.3(WAS):c.1476C>T (p.Gly492=)
|
rs1161895393
|
0.00002
|
|
NM_000377.3(WAS):c.1477G>A (p.Asp493Asn)
|
rs781790075
|
0.00002
|
|
NM_000377.3(WAS):c.16A>G (p.Met6Val)
|
rs782730988
|
0.00002
|
|
NM_000377.3(WAS):c.249C>T (p.Tyr83=)
|
rs368151220
|
0.00002
|
|
NM_000377.3(WAS):c.273+15C>T
|
rs1286865928
|
0.00002
|
|
NM_000377.3(WAS):c.274-4C>T
|
rs782527416
|
0.00002
|
|
NM_000377.3(WAS):c.390C>T (p.Asp130=)
|
rs782593697
|
0.00002
|
|
NM_000377.3(WAS):c.420C>T (p.Leu140=)
|
rs782639067
|
0.00002
|
|
NM_000377.3(WAS):c.575C>T (p.Pro192Leu)
|
rs782745511
|
0.00002
|
|
NM_000377.3(WAS):c.679C>T (p.Arg227Cys)
|
rs1395882218
|
0.00002
|
|
NM_000377.3(WAS):c.802C>T (p.Arg268Trp)
|
rs782149318
|
0.00002
|
|
NM_000377.3(WAS):c.975G>C (p.Gln325His)
|
rs930931192
|
0.00002
|
|
NM_000377.3(WAS):c.999G>A (p.Gly333=)
|
rs369654974
|
0.00002
|
|
NM_000760.4(CSF3R):c.106G>A (p.Val36Ile)
|
rs369635490
|
0.00002
|
|
NM_000760.4(CSF3R):c.1115T>A (p.Val372Glu)
|
rs200965005
|
0.00002
|
|
NM_000760.4(CSF3R):c.1238C>T (p.Ser413Leu)
|
rs1294098023
|
0.00002
|
|
NM_000760.4(CSF3R):c.1325C>T (p.Pro442Leu)
|
rs948001842
|
0.00002
|
|
NM_000760.4(CSF3R):c.1409C>T (p.Ala470Val)
|
rs781634406
|
0.00002
|
|
NM_000760.4(CSF3R):c.1633C>A (p.Leu545Met)
|
rs760231922
|
0.00002
|
|
NM_000760.4(CSF3R):c.1664G>A (p.Gly555Glu)
|
rs763022964
|
0.00002
|
|
NM_000760.4(CSF3R):c.1683C>T (p.His561=)
|
rs771829515
|
0.00002
|
|
NM_000760.4(CSF3R):c.1711A>G (p.Asn571Asp)
|
rs372318763
|
0.00002
|
|
NM_000760.4(CSF3R):c.1947T>C (p.Cys649=)
|
rs1005321266
|
0.00002
|
|
NM_000760.4(CSF3R):c.195G>A (p.Leu65=)
|
rs369091565
|
0.00002
|
|
NM_000760.4(CSF3R):c.2132C>T (p.Ser711Phe)
|
rs778281149
|
0.00002
|
|
NM_000760.4(CSF3R):c.2251C>T (p.Leu751Phe)
|
rs1650331500
|
0.00002
|
|
NM_000760.4(CSF3R):c.2360A>G (p.Tyr787Cys)
|
rs150281231
|
0.00002
|
|
NM_000760.4(CSF3R):c.2405C>T (p.Thr802Ile)
|
rs371426547
|
0.00002
|
|
NM_000760.4(CSF3R):c.361+12C>T
|
rs200681728
|
0.00002
|
|
NM_000760.4(CSF3R):c.48C>T (p.Ile16=)
|
rs766497159
|
0.00002
|
|
NM_000760.4(CSF3R):c.673+16G>A
|
rs938091790
|
0.00002
|
|
NM_000760.4(CSF3R):c.698G>A (p.Arg233Gln)
|
rs138558210
|
0.00002
|
|
NM_000760.4(CSF3R):c.801G>C (p.Glu267Asp)
|
rs141083013
|
0.00002
|
|
NM_000760.4(CSF3R):c.843+3G>A
|
rs373601431
|
0.00002
|
|
NM_000760.4(CSF3R):c.903G>A (p.Thr301=)
|
rs746383447
|
0.00002
|
|
NM_000760.4(CSF3R):c.995G>A (p.Arg332Gln)
|
rs758186406
|
0.00002
|
|
NM_000760.4(CSF3R):c.997G>A (p.Ala333Thr)
|
rs750345536
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.-530G>A
|
rs1417861590
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1008T>G (p.Ala336=)
|
rs782726848
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1098C>T (p.His366=)
|
rs782587864
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1124+18G>C
|
rs1555190434
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1179G>A (p.Trp393Ter)
|
rs902775927
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)
|
rs376140990
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu)
|
rs373540523
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.149-7C>T
|
rs1316874319
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile)
|
rs953252068
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-10T>C
|
rs914753772
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.382-4A>C
|
rs923058912
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.460del (p.Ile154fs)
|
rs769726248
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.462C>A (p.Ile154=)
|
rs1309434778
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.558C>T (p.Leu186=)
|
rs745721191
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)
|
rs781784543
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.785+12A>G
|
rs976964945
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)
|
rs555640045
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.985+240_985+241insTA
|
rs782397393
|
0.00002
|
|
NM_001164277.2(SLC37A4):c.991A>G (p.Ile331Val)
|
rs201967384
|
0.00002
|
|
NM_001258392.3(CLPB):c.214G>A (p.Gly72Arg)
|
rs758376345
|
0.00002
|
|
NM_001972.4(ELANE):c.108G>A (p.Ala36=)
|
rs886109432
|
0.00002
|
|
NM_001972.4(ELANE):c.118G>A (p.Ala40Thr)
|
rs1004780968
|
0.00002
|
|
NM_001972.4(ELANE):c.14G>A (p.Arg5His)
|
rs1050778419
|
0.00002
|
|
NM_001972.4(ELANE):c.219G>A (p.Ala73=)
|
rs780340448
|
0.00002
|
|
NM_001972.4(ELANE):c.223G>A (p.Val75Ile)
|
rs200998348
|
0.00002
|
|
NM_001972.4(ELANE):c.347A>G (p.Asn116Ser)
|
rs1196145112
|
0.00002
|
|
NM_001972.4(ELANE):c.354C>G (p.Ile118Met)
|
rs759734732
|
0.00002
|
|
NM_001972.4(ELANE):c.407C>T (p.Ala136Val)
|
rs145175658
|
0.00002
|
|
NM_001972.4(ELANE):c.556G>A (p.Val186Ile)
|
rs140642538
|
0.00002
|
|
NM_001972.4(ELANE):c.578G>A (p.Arg193Gln)
|
rs199659114
|
0.00002
|
|
NM_001972.4(ELANE):c.598-19A>G
|
rs970584462
|
0.00002
|
|
NM_001972.4(ELANE):c.687C>T (p.Pro229=)
|
rs199670861
|
0.00002
|
|
NM_003467.3(CXCR4):c.249C>T (p.Ala83=)
|
rs1013459896
|
0.00002
|
|
NM_003467.3(CXCR4):c.270G>A (p.Thr90=)
|
rs753770848
|
0.00002
|
|
NM_003664.5(AP3B1):c.1050G>A (p.Gln350=)
|
rs760881363
|
0.00002
|
|
NM_003664.5(AP3B1):c.1167+15A>G
|
rs368393559
|
0.00002
|
|
NM_003664.5(AP3B1):c.1186T>C (p.Leu396=)
|
rs574476271
|
0.00002
|
|
NM_003664.5(AP3B1):c.1331A>G (p.Asn444Ser)
|
rs758805835
|
0.00002
|
|
NM_003664.5(AP3B1):c.1412T>A (p.Met471Lys)
|
rs771964089
|
0.00002
|
|
NM_003664.5(AP3B1):c.1651-5A>G
|
rs1356238571
|
0.00002
|
|
NM_003664.5(AP3B1):c.1722A>C (p.Thr574=)
|
rs754956851
|
0.00002
|
|
NM_003664.5(AP3B1):c.1927G>A (p.Ala643Thr)
|
rs775296594
|
0.00002
|
|
NM_003664.5(AP3B1):c.194G>A (p.Arg65Gln)
|
rs150651515
|
0.00002
|
|
NM_003664.5(AP3B1):c.2048A>T (p.Glu683Val)
|
rs768736531
|
0.00002
|
|
NM_003664.5(AP3B1):c.2287A>G (p.Lys763Glu)
|
rs151082743
|
0.00002
|
|
NM_003664.5(AP3B1):c.2577T>C (p.Ser859=)
|
rs755754414
|
0.00002
|
|
NM_003664.5(AP3B1):c.2700C>T (p.Val900=)
|
rs756834284
|
0.00002
|
|
NM_003664.5(AP3B1):c.2895-19T>A
|
rs779085657
|
0.00002
|
|
NM_003664.5(AP3B1):c.375+18T>A
|
rs775724254
|
0.00002
|
|
NM_003664.5(AP3B1):c.466A>G (p.Lys156Glu)
|
rs1424373279
|
0.00002
|
|
NM_003664.5(AP3B1):c.942+6T>C
|
rs759015208
|
0.00002
|
|
NM_003664.5(AP3B1):c.943-9A>T
|
rs776758618
|
0.00002
|
|
NM_005263.5(GFI1):c.1239G>A (p.Arg413=)
|
rs769776057
|
0.00002
|
|
NM_005263.5(GFI1):c.233G>C (p.Ser78Thr)
|
rs770306507
|
0.00002
|
|
NM_005263.5(GFI1):c.484G>A (p.Gly162Ser)
|
rs1302643142
|
0.00002
|
|
NM_005263.5(GFI1):c.494C>A (p.Ala165Asp)
|
rs773178468
|
0.00002
|
|
NM_005263.5(GFI1):c.498G>A (p.Ala166=)
|
rs772031788
|
0.00002
|
|
NM_005263.5(GFI1):c.506G>T (p.Gly169Val)
|
rs1463895728
|
0.00002
|
|
NM_005263.5(GFI1):c.69A>G (p.Pro23=)
|
rs369812626
|
0.00002
|
|
NM_005263.5(GFI1):c.74A>G (p.Tyr25Cys)
|
rs375422035
|
0.00002
|
|
NM_005263.5(GFI1):c.772A>G (p.Ile258Val)
|
rs755193129
|
0.00002
|
|
NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)
|
rs780614125
|
0.00002
|
|
NM_006118.4(HAX1):c.168C>A (p.His56Gln)
|
rs756371972
|
0.00002
|
|
NM_006118.4(HAX1):c.206C>G (p.Pro69Arg)
|
rs370342620
|
0.00002
|
|
NM_006118.4(HAX1):c.225C>T (p.Phe75=)
|
rs547500941
|
0.00002
|
|
NM_006118.4(HAX1):c.256C>T (p.Arg86Ter)
|
rs121908165
|
0.00002
|
|
NM_006118.4(HAX1):c.317-4G>T
|
rs368305272
|
0.00002
|
|
NM_006118.4(HAX1):c.411G>A (p.Gln137=)
|
rs766622654
|
0.00002
|
|
NM_006118.4(HAX1):c.423T>C (p.Phe141=)
|
rs200778148
|
0.00002
|
|
NM_006118.4(HAX1):c.429G>T (p.Gly143=)
|
rs764127512
|
0.00002
|
|
NM_006118.4(HAX1):c.505-20T>C
|
rs765259799
|
0.00002
|
|
NM_006118.4(HAX1):c.556+13G>A
|
rs771282580
|
0.00002
|
|
NM_006118.4(HAX1):c.729C>T (p.His243=)
|
rs145975391
|
0.00002
|
|
NM_007259.5(VPS45):c.1033C>T (p.Arg345Trp)
|
rs782225422
|
0.00002
|
|
NM_007259.5(VPS45):c.1105-12A>G
|
rs782626266
|
0.00002
|
|
NM_007259.5(VPS45):c.1133A>G (p.Lys378Arg)
|
rs190896405
|
0.00002
|
|
NM_007259.5(VPS45):c.1157G>A (p.Arg386His)
|
rs781997687
|
0.00002
|
|
NM_007259.5(VPS45):c.1359C>A (p.Leu453=)
|
rs782429614
|
0.00002
|
|
NM_007259.5(VPS45):c.1371+5A>G
|
rs369221126
|
0.00002
|
|
NM_007259.5(VPS45):c.1401A>G (p.Gln467=)
|
rs1553802459
|
0.00002
|
|
NM_007259.5(VPS45):c.1428T>C (p.His476=)
|
rs782259938
|
0.00002
|
|
NM_007259.5(VPS45):c.1467T>C (p.Tyr489=)
|
rs150044678
|
0.00002
|
|
NM_007259.5(VPS45):c.1494-7A>G
|
rs1435795274
|
0.00002
|
|
NM_007259.5(VPS45):c.1567C>T (p.Arg523Cys)
|
rs782426640
|
0.00002
|
|
NM_007259.5(VPS45):c.1689A>G (p.Thr563=)
|
rs782289649
|
0.00002
|
|
NM_007259.5(VPS45):c.1700C>T (p.Ala567Val)
|
rs373074422
|
0.00002
|
|
NM_007259.5(VPS45):c.223A>G (p.Thr75Ala)
|
rs782052786
|
0.00002
|
|
NM_007259.5(VPS45):c.228+8A>G
|
rs782133423
|
0.00002
|
|
NM_007259.5(VPS45):c.378T>C (p.Tyr126=)
|
rs782457677
|
0.00002
|
|
NM_007259.5(VPS45):c.702C>G (p.Ala234=)
|
rs782301145
|
0.00002
|
|
NM_007259.5(VPS45):c.711C>T (p.His237=)
|
rs782676481
|
0.00002
|
|
NM_007259.5(VPS45):c.96T>G (p.Thr32=)
|
rs182111359
|
0.00002
|
|
NM_014017.4(LAMTOR2):c.231+7A>G
|
rs750943723
|
0.00002
|
|
NM_017890.5(VPS13B):c.4198G>A (p.Val1400Ile)
|
rs374008116
|
0.00002
|
|
NM_017890.5(VPS13B):c.4280G>A (p.Cys1427Tyr)
|
rs144187978
|
0.00002
|
|
NM_024598.4(USB1):c.111C>T (p.Pro37=)
|
rs767672950
|
0.00002
|
|
NM_024598.4(USB1):c.253G>A (p.Val85Ile)
|
rs764580227
|
0.00002
|
|
NM_032492.4(JAGN1):c.127G>A (p.Val43Ile)
|
rs778975542
|
0.00002
|
|
NM_032492.4(JAGN1):c.12A>G (p.Arg4=)
|
rs377365266
|
0.00002
|
|
NM_032492.4(JAGN1):c.30C>T (p.Ala10=)
|
rs549030325
|
0.00002
|
|
NM_032492.4(JAGN1):c.379C>T (p.Gln127Ter)
|
rs771407343
|
0.00002
|
|
NM_032492.4(JAGN1):c.421G>C (p.Gly141Arg)
|
rs762857972
|
0.00002
|
|
NM_032492.4(JAGN1):c.432C>T (p.Ala144=)
|
rs766336706
|
0.00002
|
|
NM_032492.4(JAGN1):c.443T>C (p.Met148Thr)
|
rs752997945
|
0.00002
|
|
NM_032492.4(JAGN1):c.480C>T (p.Ala160=)
|
rs779442557
|
0.00002
|
|
NM_032492.4(JAGN1):c.90T>C (p.Ser30=)
|
rs201225696
|
0.00002
|
|
NM_138387.4(G6PC3):c.-155T>A
|
rs756204705
|
0.00002
|
|
NM_138387.4(G6PC3):c.1001T>C (p.Met334Thr)
|
rs746741551
|
0.00002
|
|
NM_138387.4(G6PC3):c.1032C>T (p.His344=)
|
rs774174457
|
0.00002
|
|
NM_138387.4(G6PC3):c.201C>T (p.Leu67=)
|
rs375273894
|
0.00002
|
|
NM_138387.4(G6PC3):c.418C>T (p.Arg140Cys)
|
rs764229993
|
0.00002
|
|
NM_138387.4(G6PC3):c.431T>A (p.Val144Glu)
|
rs561313644
|
0.00002
|
|
NM_138387.4(G6PC3):c.536-7C>G
|
rs754683713
|
0.00002
|
|
NM_138387.4(G6PC3):c.537C>T (p.Gly179=)
|
rs758478386
|
0.00002
|
|
NM_138387.4(G6PC3):c.757C>T (p.Arg253Cys)
|
rs765927570
|
0.00002
|
|
NM_138387.4(G6PC3):c.824G>A (p.Arg275Gln)
|
rs765872526
|
0.00002
|
|
NM_138387.4(G6PC3):c.829C>T (p.Gln277Ter)
|
rs148559256
|
0.00002
|
|
NM_152564.5(VPS13B):c.10062-7C>T
|
rs1588785807
|
0.00002
|
|
NM_152564.5(VPS13B):c.10135C>T (p.His3379Tyr)
|
rs377394274
|
0.00002
|
|
NM_152564.5(VPS13B):c.10169C>T (p.Thr3390Ile)
|
rs767783667
|
0.00002
|
|
NM_152564.5(VPS13B):c.10239G>A (p.Ala3413=)
|
rs749865979
|
0.00002
|
|
NM_152564.5(VPS13B):c.10241T>C (p.Leu3414Ser)
|
rs142411465
|
0.00002
|
|
NM_152564.5(VPS13B):c.10448C>T (p.Thr3483Ile)
|
rs367609176
|
0.00002
|
|
NM_152564.5(VPS13B):c.10584G>A (p.Arg3528=)
|
rs141266642
|
0.00002
|
|
NM_152564.5(VPS13B):c.10614G>A (p.Gly3538=)
|
rs753338038
|
0.00002
|
|
NM_152564.5(VPS13B):c.10663G>A (p.Val3555Met)
|
rs745866775
|
0.00002
|
|
NM_152564.5(VPS13B):c.1079del (p.Asp360fs)
|
rs767518464
|
0.00002
|
|
NM_152564.5(VPS13B):c.10942G>A (p.Asp3648Asn)
|
rs748727467
|
0.00002
|
|
NM_152564.5(VPS13B):c.10958C>T (p.Pro3653Leu)
|
rs749689354
|
0.00002
|
|
NM_152564.5(VPS13B):c.11049C>T (p.Thr3683=)
|
rs1474618669
|
0.00002
|
|
NM_152564.5(VPS13B):c.11058C>T (p.Ser3686=)
|
rs1242117872
|
0.00002
|
|
NM_152564.5(VPS13B):c.11128C>T (p.Arg3710Trp)
|
rs560723051
|
0.00002
|
|
NM_152564.5(VPS13B):c.11218G>A (p.Ala3740Thr)
|
rs749392832
|
0.00002
|
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
|
NM_152564.5(VPS13B):c.11438A>G (p.His3813Arg)
|
rs549702100
|
0.00002
|
|
NM_152564.5(VPS13B):c.11495+10T>C
|
rs1250469602
|
0.00002
|
|
NM_152564.5(VPS13B):c.11691G>C (p.Gln3897His)
|
rs371985144
|
0.00002
|
|
NM_152564.5(VPS13B):c.11715C>A (p.Leu3905=)
|
rs755448442
|
0.00002
|
|
NM_152564.5(VPS13B):c.11757C>T (p.Val3919=)
|
rs757616720
|
0.00002
|
|
NM_152564.5(VPS13B):c.11877A>C (p.Glu3959Asp)
|
rs774988681
|
0.00002
|
|
NM_152564.5(VPS13B):c.1193C>T (p.Thr398Met)
|
rs753703762
|
0.00002
|
|
NM_152564.5(VPS13B):c.1303-10C>T
|
rs748144840
|
0.00002
|
|
NM_152564.5(VPS13B):c.1303-12T>G
|
rs776676353
|
0.00002
|
|
NM_152564.5(VPS13B):c.1357A>G (p.Arg453Gly)
|
rs767057004
|
0.00002
|
|
NM_152564.5(VPS13B):c.1425+8C>T
|
rs758851977
|
0.00002
|
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
|
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His)
|
rs771667880
|
0.00002
|
|
NM_152564.5(VPS13B):c.1531G>A (p.Ala511Thr)
|
rs368241718
|
0.00002
|
|
NM_152564.5(VPS13B):c.1735A>G (p.Ile579Val)
|
rs750419805
|
0.00002
|
|
NM_152564.5(VPS13B):c.1776T>C (p.His592=)
|
rs756818683
|
0.00002
|
|
NM_152564.5(VPS13B):c.1865C>T (p.Thr622Ile)
|
rs147043610
|
0.00002
|
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
|
NM_152564.5(VPS13B):c.2014-12A>G
|
rs559491564
|
0.00002
|
|
NM_152564.5(VPS13B):c.203A>G (p.His68Arg)
|
rs368511311
|
0.00002
|
|
NM_152564.5(VPS13B):c.2243A>G (p.Asp748Gly)
|
rs145988999
|
0.00002
|
|
NM_152564.5(VPS13B):c.2272C>G (p.Pro758Ala)
|
rs1483935385
|
0.00002
|
|
NM_152564.5(VPS13B):c.2333+11C>A
|
rs757148916
|
0.00002
|
|
NM_152564.5(VPS13B):c.2334-3C>T
|
rs749105779
|
0.00002
|
|
NM_152564.5(VPS13B):c.2419C>G (p.Leu807Val)
|
rs780214074
|
0.00002
|
|
NM_152564.5(VPS13B):c.2515+8C>T
|
rs758789053
|
0.00002
|
|
NM_152564.5(VPS13B):c.2583C>T (p.Cys861=)
|
rs199868590
|
0.00002
|
|
NM_152564.5(VPS13B):c.2650+10G>A
|
rs1478294396
|
0.00002
|
|
NM_152564.5(VPS13B):c.2667G>T (p.Glu889Asp)
|
rs369849286
|
0.00002
|
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
|
NM_152564.5(VPS13B):c.2935-8C>G
|
rs762645139
|
0.00002
|
|
NM_152564.5(VPS13B):c.3106G>A (p.Val1036Ile)
|
rs745742179
|
0.00002
|
|
NM_152564.5(VPS13B):c.3162G>A (p.Lys1054=)
|
rs776213275
|
0.00002
|
|
NM_152564.5(VPS13B):c.3332C>T (p.Pro1111Leu)
|
rs576973103
|
0.00002
|
|
NM_152564.5(VPS13B):c.3385A>G (p.Lys1129Glu)
|
rs371315874
|
0.00002
|
|
NM_152564.5(VPS13B):c.3533C>G (p.Pro1178Arg)
|
rs1391680745
|
0.00002
|
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
|
NM_152564.5(VPS13B):c.3673C>G (p.Leu1225Val)
|
rs1343599639
|
0.00002
|
|
NM_152564.5(VPS13B):c.3692A>G (p.Asp1231Gly)
|
rs1289522615
|
0.00002
|
|
NM_152564.5(VPS13B):c.3714C>T (p.Asn1238=)
|
rs749086106
|
0.00002
|
|
NM_152564.5(VPS13B):c.3792A>G (p.Pro1264=)
|
rs778016570
|
0.00002
|
|
NM_152564.5(VPS13B):c.3799A>C (p.Ser1267Arg)
|
rs749167191
|
0.00002
|
|
NM_152564.5(VPS13B):c.3813A>G (p.Thr1271=)
|
rs775071483
|
0.00002
|
|
NM_152564.5(VPS13B):c.3826A>G (p.Thr1276Ala)
|
rs746514520
|
0.00002
|
|
NM_152564.5(VPS13B):c.3865A>G (p.Thr1289Ala)
|
rs752808333
|
0.00002
|
|
NM_152564.5(VPS13B):c.3870+20C>T
|
rs569308241
|
0.00002
|
|
NM_152564.5(VPS13B):c.4045G>T (p.Val1349Phe)
|
rs780981868
|
0.00002
|
|
NM_152564.5(VPS13B):c.4224+560C>T
|
rs368951087
|
0.00002
|
|
NM_152564.5(VPS13B):c.4224+724A>G
|
rs780003978
|
0.00002
|
|
NM_152564.5(VPS13B):c.4225-10T>C
|
rs758652475
|
0.00002
|
|
NM_152564.5(VPS13B):c.453A>G (p.Val151=)
|
rs148436198
|
0.00002
|
|
NM_152564.5(VPS13B):c.4570G>T (p.Val1524Phe)
|
rs200774003
|
0.00002
|
|
NM_152564.5(VPS13B):c.4779T>C (p.Pro1593=)
|
rs764443970
|
0.00002
|
|
NM_152564.5(VPS13B):c.4908G>A (p.Arg1636=)
|
rs765924507
|
0.00002
|
|
NM_152564.5(VPS13B):c.4955G>A (p.Arg1652Gln)
|
rs138148013
|
0.00002
|
|
NM_152564.5(VPS13B):c.4958G>A (p.Arg1653Gln)
|
rs751699219
|
0.00002
|
|
NM_152564.5(VPS13B):c.5120C>T (p.Thr1707Ile)
|
rs1430604594
|
0.00002
|
|
NM_152564.5(VPS13B):c.5235A>C (p.Glu1745Asp)
|
rs751179813
|
0.00002
|
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
|
NM_152564.5(VPS13B):c.5295T>C (p.Gly1765=)
|
rs139459037
|
0.00002
|
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
|
NM_152564.5(VPS13B):c.5395C>T (p.Arg1799Cys)
|
rs751912986
|
0.00002
|
|
NM_152564.5(VPS13B):c.5781G>T (p.Glu1927Asp)
|
rs1479745735
|
0.00002
|
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
|
NM_152564.5(VPS13B):c.5850G>A (p.Val1950=)
|
rs747547095
|
0.00002
|
|
NM_152564.5(VPS13B):c.6031T>G (p.Phe2011Val)
|
rs534890892
|
0.00002
|
|
NM_152564.5(VPS13B):c.6229C>T (p.Arg2077Cys)
|
rs780180063
|
0.00002
|
|
NM_152564.5(VPS13B):c.6260G>A (p.Gly2087Asp)
|
rs1184175662
|
0.00002
|
|
NM_152564.5(VPS13B):c.6455-13A>G
|
rs1832959231
|
0.00002
|
|
NM_152564.5(VPS13B):c.6719A>T (p.Tyr2240Phe)
|
rs762982977
|
0.00002
|
|
NM_152564.5(VPS13B):c.672C>T (p.Tyr224=)
|
rs760171272
|
0.00002
|
|
NM_152564.5(VPS13B):c.690C>T (p.Tyr230=)
|
rs553150517
|
0.00002
|
|
NM_152564.5(VPS13B):c.6954A>G (p.Glu2318=)
|
rs745811385
|
0.00002
|
|
NM_152564.5(VPS13B):c.69G>A (p.Pro23=)
|
rs570877761
|
0.00002
|
|
NM_152564.5(VPS13B):c.7243C>A (p.Gln2415Lys)
|
rs755052081
|
0.00002
|
|
NM_152564.5(VPS13B):c.732C>T (p.Asn244=)
|
rs774354165
|
0.00002
|
|
NM_152564.5(VPS13B):c.7365C>T (p.Cys2455=)
|
rs748588048
|
0.00002
|
|
NM_152564.5(VPS13B):c.7429+18A>G
|
rs374929892
|
0.00002
|
|
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=)
|
rs913138802
|
0.00002
|
|
NM_152564.5(VPS13B):c.7579G>A (p.Ala2527Thr)
|
rs369062407
|
0.00002
|
|
NM_152564.5(VPS13B):c.7645T>C (p.Phe2549Leu)
|
rs377498258
|
0.00002
|
|
NM_152564.5(VPS13B):c.7659A>C (p.Ala2553=)
|
rs776995646
|
0.00002
|
|
NM_152564.5(VPS13B):c.7698C>T (p.Thr2566=)
|
rs750908734
|
0.00002
|
|
NM_152564.5(VPS13B):c.7893G>A (p.Ala2631=)
|
rs145460276
|
0.00002
|
|
NM_152564.5(VPS13B):c.7922G>A (p.Arg2641His)
|
rs398124338
|
0.00002
|
|
NM_152564.5(VPS13B):c.7942-13T>G
|
rs761317351
|
0.00002
|
|
NM_152564.5(VPS13B):c.7942-19T>A
|
rs200318613
|
0.00002
|
|
NM_152564.5(VPS13B):c.8011G>A (p.Gly2671Arg)
|
rs568716604
|
0.00002
|
|
NM_152564.5(VPS13B):c.8040G>C (p.Arg2680Ser)
|
rs145899918
|
0.00002
|
|
NM_152564.5(VPS13B):c.8049T>C (p.Thr2683=)
|
rs765550072
|
0.00002
|
|
NM_152564.5(VPS13B):c.8118G>A (p.Gln2706=)
|
rs752661758
|
0.00002
|
|
NM_152564.5(VPS13B):c.8200C>T (p.Arg2734Trp)
|
rs749023338
|
0.00002
|
|
NM_152564.5(VPS13B):c.8202G>C (p.Arg2734=)
|
rs759728712
|
0.00002
|
|
NM_152564.5(VPS13B):c.825T>G (p.Ile275Met)
|
rs769413380
|
0.00002
|
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
|
NM_152564.5(VPS13B):c.8445+50del
|
rs761647040
|
0.00002
|
|
NM_152564.5(VPS13B):c.857A>G (p.Tyr286Cys)
|
rs753075331
|
0.00002
|
|
NM_152564.5(VPS13B):c.8621+18C>T
|
rs752131066
|
0.00002
|
|
NM_152564.5(VPS13B):c.8639C>T (p.Ser2880Leu)
|
rs760166376
|
0.00002
|
|
NM_152564.5(VPS13B):c.8645G>T (p.Cys2882Phe)
|
rs954722328
|
0.00002
|
|
NM_152564.5(VPS13B):c.865A>G (p.Ile289Val)
|
rs943316620
|
0.00002
|
|
NM_152564.5(VPS13B):c.8793-16G>A
|
rs1454120026
|
0.00002
|
|
NM_152564.5(VPS13B):c.8793-4A>T
|
rs1158582777
|
0.00002
|
|
NM_152564.5(VPS13B):c.8828G>A (p.Arg2943Gln)
|
rs777528760
|
0.00002
|
|
NM_152564.5(VPS13B):c.897C>G (p.Asp299Glu)
|
rs146883974
|
0.00002
|
|
NM_152564.5(VPS13B):c.9330+17G>A
|
rs375248298
|
0.00002
|
|
NM_152564.5(VPS13B):c.9391A>G (p.Met3131Val)
|
rs1241294111
|
0.00002
|
|
NM_152564.5(VPS13B):c.9391_9396dup (p.Met3131_Lys3132dup)
|
rs747778859
|
0.00002
|
|
NM_152564.5(VPS13B):c.9399C>T (p.Ser3133=)
|
rs773831188
|
0.00002
|
|
NM_152564.5(VPS13B):c.9400A>G (p.Ser3134Gly)
|
rs138889735
|
0.00002
|
|
NM_152564.5(VPS13B):c.9573A>G (p.Ala3191=)
|
rs189680814
|
0.00002
|
|
NM_152564.5(VPS13B):c.9583G>A (p.Gly3195Arg)
|
rs772658121
|
0.00002
|
|
NM_152564.5(VPS13B):c.9588T>C (p.Asn3196=)
|
rs761906678
|
0.00002
|
|
NM_152564.5(VPS13B):c.9742+10A>G
|
rs755760611
|
0.00002
|
|
NM_152564.5(VPS13B):c.9742+2dup
|
rs770968105
|
0.00002
|
|
NM_152564.5(VPS13B):c.9780C>T (p.Pro3260=)
|
rs781671301
|
0.00002
|
|
NM_152564.5(VPS13B):c.9788G>A (p.Cys3263Tyr)
|
rs749573516
|
0.00002
|
|
NM_152564.5(VPS13B):c.9816G>A (p.Gln3272=)
|
rs1397608904
|
0.00002
|
|
NM_152564.5(VPS13B):c.9831G>A (p.Pro3277=)
|
rs775601813
|
0.00002
|
|
NM_152564.5(VPS13B):c.9917T>C (p.Ile3306Thr)
|
rs139575184
|
0.00002
|
|
NM_183235.3(RAB27A):c.*2135C>A
|
rs1025029271
|
0.00002
|
|
NM_183235.3(RAB27A):c.153+20A>G
|
rs1370109364
|
0.00002
|
|
NM_183235.3(RAB27A):c.227C>T (p.Ala76Val)
|
rs766632505
|
0.00002
|
|
NM_183235.3(RAB27A):c.239+1G>T
|
rs761810607
|
0.00002
|
|
NM_183235.3(RAB27A):c.239G>C (p.Arg80Thr)
|
rs765369750
|
0.00002
|
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
|
NM_183235.3(RAB27A):c.340A>G (p.Ile114Val)
|
rs1218762595
|
0.00002
|
|
NM_183235.3(RAB27A):c.37T>G (p.Leu13Val)
|
rs905779372
|
0.00002
|
|
NM_183235.3(RAB27A):c.497A>G (p.Asn166Ser)
|
rs576324438
|
0.00002
|
|
NM_183235.3(RAB27A):c.621G>A (p.Thr207=)
|
rs764546558
|
0.00002
|
|
NM_183235.3(RAB27A):c.94G>C (p.Gly32Arg)
|
rs778448317
|
0.00002
|
|
NM_000081.4(LYST):c.10110T>C (p.Ala3370=)
|
rs886038227
|
0.00001
|
|
NM_000081.4(LYST):c.10622A>G (p.Tyr3541Cys)
|
rs1369698547
|
0.00001
|
|
NM_000081.4(LYST):c.10976G>T (p.Ser3659Ile)
|
rs1659445104
|
0.00001
|
|
NM_000081.4(LYST):c.11085C>T (p.Leu3695=)
|
rs767062870
|
0.00001
|
|
NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser)
|
rs1481260242
|
0.00001
|
|
NM_000081.4(LYST):c.1176A>G (p.Ser392=)
|
rs764088101
|
0.00001
|
|
NM_000081.4(LYST):c.1507C>T (p.Arg503Ter)
|
rs1558282769
|
0.00001
|
|
NM_000081.4(LYST):c.159A>G (p.Leu53=)
|
rs373917160
|
0.00001
|
|
NM_000081.4(LYST):c.1637G>A (p.Arg546Gln)
|
rs751609899
|
0.00001
|
|
NM_000081.4(LYST):c.1848C>T (p.Asn616=)
|
rs376259384
|
0.00001
|
|
NM_000081.4(LYST):c.2181G>A (p.Gln727=)
|
rs749804968
|
0.00001
|
|
NM_000081.4(LYST):c.2330A>G (p.Tyr777Cys)
|
rs367688184
|
0.00001
|
|
NM_000081.4(LYST):c.2724C>T (p.Cys908=)
|
rs201440611
|
0.00001
|
|
NM_000081.4(LYST):c.2908A>C (p.Ile970Leu)
|
rs539146732
|
0.00001
|
|
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr)
|
rs376496670
|
0.00001
|
|
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)
|
rs80338652
|
0.00001
|
|
NM_000081.4(LYST):c.3702C>A (p.Thr1234=)
|
rs151187564
|
0.00001
|
|
NM_000081.4(LYST):c.3792G>A (p.Gly1264=)
|
rs777580667
|
0.00001
|
|
NM_000081.4(LYST):c.387G>A (p.Leu129=)
|
rs749353041
|
0.00001
|
|
NM_000081.4(LYST):c.4135A>G (p.Ile1379Val)
|
rs1178179147
|
0.00001
|
|
NM_000081.4(LYST):c.4266C>A (p.Ala1422=)
|
rs764207947
|
0.00001
|
|
NM_000081.4(LYST):c.440G>A (p.Arg147His)
|
rs759868763
|
0.00001
|
|
NM_000081.4(LYST):c.4428C>T (p.Ser1476=)
|
rs749585509
|
0.00001
|
|
NM_000081.4(LYST):c.463G>C (p.Val155Leu)
|
rs769942827
|
0.00001
|
|
NM_000081.4(LYST):c.4998C>A (p.Asp1666Glu)
|
rs377563551
|
0.00001
|
|
NM_000081.4(LYST):c.5001G>A (p.Leu1667=)
|
rs748942618
|
0.00001
|
|
NM_000081.4(LYST):c.5037T>C (p.Gly1679=)
|
rs753293453
|
0.00001
|
|
NM_000081.4(LYST):c.5578A>G (p.Met1860Val)
|
rs368738466
|
0.00001
|
|
NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile)
|
rs757494655
|
0.00001
|
|
NM_000081.4(LYST):c.5784+2C>T
|
rs763156837
|
0.00001
|
|
NM_000081.4(LYST):c.5997C>T (p.Val1999=)
|
rs778100106
|
0.00001
|
|
NM_000081.4(LYST):c.6216A>G (p.Val2072=)
|
rs371248013
|
0.00001
|
|
NM_000081.4(LYST):c.6225A>G (p.Pro2075=)
|
rs761762580
|
0.00001
|
|
NM_000081.4(LYST):c.6736C>T (p.Leu2246Phe)
|
rs758716853
|
0.00001
|
|
NM_000081.4(LYST):c.6882-7G>T
|
rs771074733
|
0.00001
|
|
NM_000081.4(LYST):c.6931C>T (p.Leu2311=)
|
rs764843145
|
0.00001
|
|
NM_000081.4(LYST):c.7340C>T (p.Ala2447Val)
|
rs766272501
|
0.00001
|
|
NM_000081.4(LYST):c.7628-8G>A
|
rs1369714185
|
0.00001
|
|
NM_000081.4(LYST):c.7761A>G (p.Gln2587=)
|
rs139917441
|
0.00001
|
|
NM_000081.4(LYST):c.7780+2C>T
|
rs760108842
|
0.00001
|
|
NM_000081.4(LYST):c.7938C>T (p.Leu2646=)
|
rs184411941
|
0.00001
|
|
NM_000081.4(LYST):c.8143G>A (p.Val2715Ile)
|
rs202010795
|
0.00001
|
|
NM_000081.4(LYST):c.8535+9A>G
|
rs781747413
|
0.00001
|
|
NM_000081.4(LYST):c.8612+10T>G
|
rs1363909678
|
0.00001
|
|
NM_000081.4(LYST):c.8922C>T (p.Leu2974=)
|
rs1388855975
|
0.00001
|
|
NM_000081.4(LYST):c.9045-4A>G
|
rs769310836
|
0.00001
|
|
NM_000081.4(LYST):c.9223G>A (p.Val3075Ile)
|
rs764879928
|
0.00001
|
|
NM_000081.4(LYST):c.9231G>A (p.Lys3077=)
|
rs1328019463
|
0.00001
|
|
NM_000081.4(LYST):c.925C>A (p.Arg309=)
|
rs370022675
|
0.00001
|
|
NM_000081.4(LYST):c.9720C>T (p.Ser3240=)
|
rs773882115
|
0.00001
|
|
NM_000081.4(LYST):c.9795T>C (p.Phe3265=)
|
rs1433367318
|
0.00001
|
|
NM_000081.4(LYST):c.9926-12C>T
|
rs762744969
|
0.00001
|
|
NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp)
|
rs761351181
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.110-6C>G
|
rs782099193
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.198G>A (p.Val66=)
|
rs782470471
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.210G>C (p.Gln70His)
|
rs977521848
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.231T>C (p.His77=)
|
rs782223969
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.238+11C>G
|
rs1163786089
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.253C>T (p.Arg85Cys)
|
rs376769286
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.403A>G (p.Lys135Glu)
|
rs1557192022
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.419C>T (p.Thr140Ile)
|
rs727503454
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.430A>G (p.Met144Val)
|
rs2068413364
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+1G>A
|
rs878853655
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.460+5G>A
|
rs1325571965
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.461-16G>C
|
rs782759146
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.465T>C (p.Asp155=)
|
rs1603381303
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.507C>T (p.Leu169=)
|
rs782498534
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.535C>G (p.Pro179Ala)
|
rs397515744
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.54C>T (p.Thr18=)
|
rs781846964
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.576C>G (p.Phe192Leu)
|
rs1557193924
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.593G>A (p.Arg198His)
|
rs371236390
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.634C>T (p.Leu212=)
|
rs587781186
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.660C>T (p.Val220=)
|
rs372610945
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=)
|
rs201046790
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.689G>A (p.Arg230His)
|
rs782655300
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.69C>T (p.Val23=)
|
rs782123597
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.700-5C>T
|
rs782731479
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.762G>A (p.Ala254=)
|
rs1042313041
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.771G>A (p.Lys257=)
|
rs368990588
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.774G>A (p.Ser258=)
|
rs782273950
|
0.00001
|
|
NM_000116.5(TAFAZZIN):c.850C>T (p.Leu284Phe)
|
rs782523340
|
0.00001
|
|
NM_000215.4(JAK3):c.2452G>A (p.Glu818Lys)
|
rs374191135
|
0.00001
|
|
NM_000377.3(WAS):c.1112C>T (p.Pro371Leu)
|
rs1557007203
|
0.00001
|
|
NM_000377.3(WAS):c.1130G>A (p.Arg377His)
|
rs868995772
|
0.00001
|
|
NM_000377.3(WAS):c.1156C>T (p.Pro386Ser)
|
rs895243178
|
0.00001
|
|
NM_000377.3(WAS):c.1205C>T (p.Pro402Leu)
|
rs1557007283
|
0.00001
|
|
NM_000377.3(WAS):c.1219G>A (p.Gly407Arg)
|
rs782602857
|
0.00001
|
|
NM_000377.3(WAS):c.1255C>A (p.Leu419Met)
|
rs1422863482
|
0.00001
|
|
NM_000377.3(WAS):c.1300C>T (p.Leu434Phe)
|
rs782605668
|
0.00001
|
|
NM_000377.3(WAS):c.1303T>C (p.Leu435=)
|
rs1557007338
|
0.00001
|
|
NM_000377.3(WAS):c.1338+8C>T
|
rs782158640
|
0.00001
|
|
NM_000377.3(WAS):c.1339-4G>A
|
rs782436940
|
0.00001
|
|
NM_000377.3(WAS):c.1407C>T (p.Ala469=)
|
rs782264561
|
0.00001
|
|
NM_000377.3(WAS):c.1416C>T (p.His472=)
|
rs377442612
|
0.00001
|
|
NM_000377.3(WAS):c.1425G>A (p.Gln475=)
|
rs1351097717
|
0.00001
|
|
NM_000377.3(WAS):c.1479T>C (p.Asp493=)
|
rs782452466
|
0.00001
|
|
NM_000377.3(WAS):c.184G>C (p.Glu62Gln)
|
rs141605347
|
0.00001
|
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
|
NM_000377.3(WAS):c.327C>G (p.Thr109=)
|
rs1288545461
|
0.00001
|
|
NM_000377.3(WAS):c.360+8A>G
|
rs1557006508
|
0.00001
|
|
NM_000377.3(WAS):c.411C>T (p.Phe137=)
|
rs1474269671
|
0.00001
|
|
NM_000377.3(WAS):c.458G>T (p.Ser153Ile)
|
rs1557006588
|
0.00001
|
|
NM_000377.3(WAS):c.459T>G (p.Ser153Arg)
|
rs1557006590
|
0.00001
|
|
NM_000377.3(WAS):c.505+3_505+7dup
|
rs1557006628
|
0.00001
|
|
NM_000377.3(WAS):c.68C>G (p.Pro23Arg)
|
rs1464176187
|
0.00001
|
|
NM_000377.3(WAS):c.74C>T (p.Thr25Ile)
|
rs374574436
|
0.00001
|
|
NM_000377.3(WAS):c.844A>G (p.Thr282Ala)
|
rs1557007029
|
0.00001
|
|
NM_000377.3(WAS):c.849C>T (p.Asp283=)
|
rs1557007034
|
0.00001
|
|
NM_000377.3(WAS):c.867T>C (p.Leu289=)
|
rs781855402
|
0.00001
|
|
NM_000377.3(WAS):c.897G>A (p.Gly299=)
|
rs782793103
|
0.00001
|
|
NM_000377.3(WAS):c.926G>A (p.Arg309His)
|
rs1557007058
|
0.00001
|
|
NM_000377.3(WAS):c.946C>A (p.Pro316Thr)
|
rs372779500
|
0.00001
|
|
NM_000377.3(WAS):c.954G>A (p.Pro318=)
|
rs1366022019
|
0.00001
|
|
NM_000377.3(WAS):c.962G>A (p.Arg321Gln)
|
rs782802310
|
0.00001
|
|
NM_000377.3(WAS):c.982C>T (p.Arg328Trp)
|
rs1395979315
|
0.00001
|
|
NM_000377.3(WAS):c.985C>G (p.Pro329Ala)
|
rs1557007136
|
0.00001
|
|
NM_000377.3(WAS):c.989C>T (p.Pro330Leu)
|
rs1178247738
|
0.00001
|
|
NM_000760.4(CSF3R):c.*161G>A
|
rs772443391
|
0.00001
|
|
NM_000760.4(CSF3R):c.1095C>T (p.Ser365=)
|
rs763356452
|
0.00001
|
|
NM_000760.4(CSF3R):c.1100G>A (p.Arg367Gln)
|
rs140159756
|
0.00001
|
|
NM_000760.4(CSF3R):c.114G>A (p.Leu38=)
|
rs765406291
|
0.00001
|
|
NM_000760.4(CSF3R):c.1216G>A (p.Val406Met)
|
rs1364558879
|
0.00001
|
|
NM_000760.4(CSF3R):c.1243G>A (p.Gly415Arg)
|
rs779227407
|
0.00001
|
|
NM_000760.4(CSF3R):c.1286-3C>T
|
rs778391319
|
0.00001
|
|
NM_000760.4(CSF3R):c.1324C>G (p.Pro442Ala)
|
rs1260196968
|
0.00001
|
|
NM_000760.4(CSF3R):c.1378G>A (p.Val460Met)
|
rs758904378
|
0.00001
|
|
NM_000760.4(CSF3R):c.1407C>T (p.Ser469=)
|
rs1306508815
|
0.00001
|
|
NM_000760.4(CSF3R):c.1456A>G (p.Thr486Ala)
|
rs767301627
|
0.00001
|
|
NM_000760.4(CSF3R):c.1522T>C (p.Tyr508His)
|
rs1180227540
|
0.00001
|
|
NM_000760.4(CSF3R):c.1608G>A (p.Lys536=)
|
rs1196522809
|
0.00001
|
|
NM_000760.4(CSF3R):c.160C>T (p.His54Tyr)
|
rs371768579
|
0.00001
|
|
NM_000760.4(CSF3R):c.1624T>C (p.Trp542Arg)
|
rs763748002
|
0.00001
|
|
NM_000760.4(CSF3R):c.163C>G (p.Leu55Val)
|
rs1651085213
|
0.00001
|
|
NM_000760.4(CSF3R):c.1686C>T (p.Tyr562=)
|
rs1650461433
|
0.00001
|
|
NM_000760.4(CSF3R):c.170C>T (p.Pro57Leu)
|
rs746657668
|
0.00001
|
|
NM_000760.4(CSF3R):c.1725C>T (p.Ser575=)
|
rs758984105
|
0.00001
|
|
NM_000760.4(CSF3R):c.1728C>T (p.Ala576=)
|
rs1451236691
|
0.00001
|
|
NM_000760.4(CSF3R):c.1734G>T (p.Leu578=)
|
rs1314251171
|
0.00001
|
|
NM_000760.4(CSF3R):c.1757T>C (p.Val586Ala)
|
rs1650440390
|
0.00001
|
|
NM_000760.4(CSF3R):c.1795C>A (p.His599Asn)
|
rs750968883
|
0.00001
|
|
NM_000760.4(CSF3R):c.180G>A (p.Gln60=)
|
rs1200828641
|
0.00001
|
|
NM_000760.4(CSF3R):c.1828A>C (p.Asn610His)
|
rs1014131377
|
0.00001
|
|
NM_000760.4(CSF3R):c.1864+6G>A
|
rs1374999733
|
0.00001
|
|
NM_000760.4(CSF3R):c.1926C>G (p.Leu642=)
|
rs771240381
|
0.00001
|
|
NM_000760.4(CSF3R):c.2037G>A (p.Glu679=)
|
rs1397528121
|
0.00001
|
|
NM_000760.4(CSF3R):c.2059G>A (p.Gly687Ser)
|
rs201699446
|
0.00001
|
|
NM_000760.4(CSF3R):c.2106T>C (p.Asp702=)
|
rs1650346965
|
0.00001
|
|
NM_000760.4(CSF3R):c.2117C>T (p.Pro706Leu)
|
rs776535279
|
0.00001
|
|
NM_000760.4(CSF3R):c.2121G>A (p.Val707=)
|
rs764603715
|
0.00001
|
|
NM_000760.4(CSF3R):c.2157C>T (p.Gly719=)
|
rs768198697
|
0.00001
|
|
NM_000760.4(CSF3R):c.2187C>T (p.Leu729=)
|
rs763256285
|
0.00001
|
|
NM_000760.4(CSF3R):c.2215C>T (p.Gln739Ter)
|
rs1650335810
|
0.00001
|
|
NM_000760.4(CSF3R):c.2223A>G (p.Gln741=)
|
rs756684252
|
0.00001
|
|
NM_000760.4(CSF3R):c.2237C>T (p.Thr746Ile)
|
rs1382959301
|
0.00001
|
|
NM_000760.4(CSF3R):c.2241C>T (p.Ser747=)
|
rs372773604
|
0.00001
|
|
NM_000760.4(CSF3R):c.2257G>A (p.Gly753Arg)
|
rs1375728977
|
0.00001
|
|
NM_000760.4(CSF3R):c.230G>A (p.Arg77His)
|
rs761404285
|
0.00001
|
|
NM_000760.4(CSF3R):c.2428G>A (p.Asp810Asn)
|
rs567871402
|
0.00001
|
|
NM_000760.4(CSF3R):c.2477G>A (p.Arg826Gln)
|
rs1332794856
|
0.00001
|
|
NM_000760.4(CSF3R):c.322A>G (p.Ser108Gly)
|
rs149231790
|
0.00001
|
|
NM_000760.4(CSF3R):c.325C>A (p.Leu109Met)
|
rs147091245
|
0.00001
|
|
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter)
|
rs756667927
|
0.00001
|
|
NM_000760.4(CSF3R):c.40C>G (p.Leu14Val)
|
rs752051152
|
0.00001
|
|
NM_000760.4(CSF3R):c.437C>T (p.Pro146Leu)
|
rs1455346222
|
0.00001
|
|
NM_000760.4(CSF3R):c.461C>T (p.Thr154Ile)
|
rs1483194095
|
0.00001
|
|
NM_000760.4(CSF3R):c.485+19C>T
|
rs1383387694
|
0.00001
|
|
NM_000760.4(CSF3R):c.491G>A (p.Arg164Gln)
|
rs754336092
|
0.00001
|
|
NM_000760.4(CSF3R):c.558C>T (p.Cys186=)
|
rs575622000
|
0.00001
|
|
NM_000760.4(CSF3R):c.623C>T (p.Ala208Val)
|
rs372288734
|
0.00001
|
|
NM_000760.4(CSF3R):c.64+7del
|
rs750628335
|
0.00001
|
|
NM_000760.4(CSF3R):c.663C>T (p.Pro221=)
|
rs1420508617
|
0.00001
|
|
NM_000760.4(CSF3R):c.686C>A (p.Pro229His)
|
rs764202764
|
0.00001
|
|
NM_000760.4(CSF3R):c.782A>G (p.His261Arg)
|
rs1650841565
|
0.00001
|
|
NM_000760.4(CSF3R):c.78C>T (p.Cys26=)
|
rs767458386
|
0.00001
|
|
NM_000760.4(CSF3R):c.799del (p.Glu267fs)
|
rs759302795
|
0.00001
|
|
NM_000760.4(CSF3R):c.79G>A (p.Gly27Arg)
|
rs759364352
|
0.00001
|
|
NM_000760.4(CSF3R):c.964A>G (p.Ser322Gly)
|
rs376634675
|
0.00001
|
|
NM_000760.4(CSF3R):c.971G>A (p.Ser324Asn)
|
rs772453466
|
0.00001
|
|
NM_000760.4(CSF3R):c.994C>T (p.Arg332Trp)
|
rs112400536
|
0.00001
|
|
NM_001109659.2(C16orf92):c.128G>A (p.Arg43Lys)
|
rs375771294
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.*1A>G
|
rs782422570
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-499C>T
|
rs1236559416
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-522G>A
|
rs1375919926
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.-527C>T
|
rs1290401578
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)
|
rs1474838395
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.102C>A (p.Val34=)
|
rs1277712643
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=)
|
rs946752823
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly)
|
rs958173659
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1092C>T (p.Thr364=)
|
rs1483400314
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr)
|
rs370696612
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.110C>A (p.Ser37Ter)
|
rs1444468055
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly)
|
rs193302901
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+1G>T
|
rs782630676
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+49C>T
|
rs782799385
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1124+8T>C
|
rs377506675
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-29G>A
|
rs1262126192
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-44G>A
|
rs1256742179
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-53G>A
|
rs1555190416
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1125-6T>C
|
rs782323567
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp)
|
rs782665493
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala)
|
rs1157093654
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)
|
rs1555190374
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1209T>C (p.Ile403=)
|
rs782074488
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1215G>A (p.Ala405=)
|
rs1043721709
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.144T>C (p.Asp48=)
|
rs1310970870
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val)
|
rs1277675258
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.149-23C>T
|
rs1283313486
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.149-6C>G
|
rs1407509189
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser)
|
rs1555191621
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.186C>T (p.Ile62=)
|
rs1452761654
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.1A>G (p.Met1Val)
|
rs786204740
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp)
|
rs193302885
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)
|
rs370153031
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His)
|
rs782578166
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.231C>G (p.Arg77=)
|
rs1478378942
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.237C>T (p.Leu79=)
|
rs546808955
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)
|
rs782446107
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.291C>G (p.Ser97Arg)
|
rs561054469
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=)
|
rs1273132953
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr)
|
rs781808875
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser)
|
rs1210339491
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.340C>T (p.Gln114Ter)
|
rs782313064
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.346C>T (p.Leu116=)
|
rs191768893
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.352T>C (p.Trp118Arg)
|
rs80356489
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.357C>G (p.Pro119=)
|
rs782358834
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.382-16G>A
|
rs778665353
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.399G>A (p.Gln133=)
|
rs767772187
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.443C>T (p.Ala148Val)
|
rs193302879
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.456C>T (p.Gly152=)
|
rs1943620012
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.458C>T (p.Pro153Leu)
|
rs193302890
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)
|
rs776272750
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly)
|
rs1438731101
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.489C>T (p.Tyr163=)
|
rs745606440
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.504G>A (p.Thr168=)
|
rs751791093
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.507G>A (p.Leu169=)
|
rs1326476812
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.513A>G (p.Leu171=)
|
rs1943617167
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly)
|
rs777627677
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.591C>T (p.Arg197=)
|
rs1476372585
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile)
|
rs764654621
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)
|
rs1272300904
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.626+12C>T
|
rs549251533
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.626+9C>T
|
rs1316816882
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln)
|
rs781982938
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.699C>T (p.Tyr233=)
|
rs1197991440
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.69G>A (p.Leu23=)
|
rs1256797588
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.756C>T (p.Ile252=)
|
rs1943586351
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)
|
rs1468641405
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.777C>T (p.Ala259=)
|
rs529075134
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.785+13T>C
|
rs1351380633
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.785+16G>A
|
rs1283553362
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.786-10C>T
|
rs782502549
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro)
|
rs1555191906
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.82C>T (p.Arg28Cys)
|
rs193302882
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.831C>T (p.Ser277=)
|
rs996156142
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.83G>A (p.Arg28His)
|
rs121908978
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.846C>T (p.Tyr282=)
|
rs372837897
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.849G>A (p.Leu283=)
|
rs369860234
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.871+7G>A
|
rs782177602
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-11T>C
|
rs1265857875
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-16G>A
|
rs766656496
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.872-6C>G
|
rs781985446
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp)
|
rs763008231
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.888C>T (p.Tyr296=)
|
rs782326705
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.898C>T (p.Arg300Cys)
|
rs193302880
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr)
|
rs1555190738
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val)
|
rs957014690
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.936dup (p.Val313fs)
|
rs782172072
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu)
|
rs955402383
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro)
|
rs1365079218
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.963A>G (p.Thr321=)
|
rs1388219398
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.96C>T (p.Ser32=)
|
rs782234184
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+195C>T
|
rs1189232257
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+217C>T
|
rs1213577149
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+226C>T
|
rs959584744
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+245C>T
|
rs1348642148
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+246G>A
|
rs1314659619
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+259G>C
|
rs1384684015
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+270C>T
|
rs782800127
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+271A>C
|
rs1313690608
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+276G>A
|
rs1555190629
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+283A>G
|
rs1009983005
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.985+295G>A
|
rs1208499204
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-12T>C
|
rs1180556897
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-15C>T
|
rs782640506
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.986-8C>T
|
rs782425309
|
0.00001
|
|
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)
|
rs782282206
|
0.00001
|
|
NM_001972.4(ELANE):c.102G>A (p.Arg34=)
|
rs1241470202
|
0.00001
|
|
NM_001972.4(ELANE):c.10G>A (p.Gly4Ser)
|
rs773460580
|
0.00001
|
|
NM_001972.4(ELANE):c.119C>T (p.Ala40Val)
|
rs1555709342
|
0.00001
|
|
NM_001972.4(ELANE):c.168C>T (p.Gly56=)
|
rs753213805
|
0.00001
|
|
NM_001972.4(ELANE):c.19C>T (p.Leu7Phe)
|
rs771000673
|
0.00001
|
|
NM_001972.4(ELANE):c.214G>A (p.Val72Met)
|
rs387906553
|
0.00001
|
|
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr)
|
rs759486889
|
0.00001
|
|
NM_001972.4(ELANE):c.233G>A (p.Arg78His)
|
rs569608929
|
0.00001
|
|
NM_001972.4(ELANE):c.235G>T (p.Ala79Ser)
|
rs769123461
|
0.00001
|
|
NM_001972.4(ELANE):c.243G>T (p.Arg81=)
|
rs768135268
|
0.00001
|
|
NM_001972.4(ELANE):c.262A>G (p.Asn88Asp)
|
rs899133377
|
0.00001
|
|
NM_001972.4(ELANE):c.292G>A (p.Val98Met)
|
rs267606781
|
0.00001
|
|
NM_001972.4(ELANE):c.305A>G (p.Gln102Arg)
|
rs568474579
|
0.00001
|
|
NM_001972.4(ELANE):c.343C>A (p.Leu115Ile)
|
rs761153954
|
0.00001
|
|
NM_001972.4(ELANE):c.345C>T (p.Leu115=)
|
rs1479475108
|
0.00001
|
|
NM_001972.4(ELANE):c.352A>G (p.Ile118Val)
|
rs1382122842
|
0.00001
|
|
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter)
|
rs1303279241
|
0.00001
|
|
NM_001972.4(ELANE):c.366+19G>T
|
rs1379344118
|
0.00001
|
|
NM_001972.4(ELANE):c.367-19T>C
|
rs755889329
|
0.00001
|
|
NM_001972.4(ELANE):c.385A>G (p.Ile129Val)
|
rs2035664153
|
0.00001
|
|
NM_001972.4(ELANE):c.418G>A (p.Ala140Thr)
|
rs760393415
|
0.00001
|
|
NM_001972.4(ELANE):c.419C>T (p.Ala140Val)
|
rs538255080
|
0.00001
|
|
NM_001972.4(ELANE):c.427C>T (p.Arg143Cys)
|
rs199558534
|
0.00001
|
|
NM_001972.4(ELANE):c.430C>T (p.Arg144Cys)
|
rs148726761
|
0.00001
|
|
NM_001972.4(ELANE):c.442G>A (p.Gly148Arg)
|
rs774508567
|
0.00001
|
|
NM_001972.4(ELANE):c.450G>A (p.Gln150=)
|
rs761830204
|
0.00001
|
|
NM_001972.4(ELANE):c.492G>C (p.Gly164=)
|
rs200050022
|
0.00001
|
|
NM_001972.4(ELANE):c.501C>T (p.Ser167=)
|
rs756658547
|
0.00001
|
|
NM_001972.4(ELANE):c.505C>A (p.Leu169Met)
|
rs749675557
|
0.00001
|
|
NM_001972.4(ELANE):c.511G>A (p.Glu171Lys)
|
rs202069727
|
0.00001
|
|
NM_001972.4(ELANE):c.518A>G (p.Asn173Ser)
|
rs748345928
|
0.00001
|
|
NM_001972.4(ELANE):c.520G>A (p.Val174Met)
|
rs1380068567
|
0.00001
|
|
NM_001972.4(ELANE):c.551G>A (p.Ser184Asn)
|
rs1360344559
|
0.00001
|
|
NM_001972.4(ELANE):c.586G>A (p.Gly196Ser)
|
rs747108397
|
0.00001
|
|
NM_001972.4(ELANE):c.598-1G>A
|
rs201117839
|
0.00001
|
|
NM_001972.4(ELANE):c.598-2A>C
|
rs1364734771
|
0.00001
|
|
NM_001972.4(ELANE):c.600G>A (p.Gly200=)
|
rs144391144
|
0.00001
|
|
NM_001972.4(ELANE):c.628G>A (p.Gly210Arg)
|
rs140880838
|
0.00001
|
|
NM_001972.4(ELANE):c.63G>T (p.Leu21=)
|
rs779360541
|
0.00001
|
|
NM_001972.4(ELANE):c.652T>C (p.Phe218Leu)
|
rs200384291
|
0.00001
|
|
NM_001972.4(ELANE):c.662G>T (p.Gly221Val)
|
rs756112245
|
0.00001
|
|
NM_001972.4(ELANE):c.67+1G>T
|
rs1599290074
|
0.00001
|
|
NM_001972.4(ELANE):c.702G>A (p.Pro234=)
|
rs202059602
|
0.00001
|
|
NM_001972.4(ELANE):c.727G>T (p.Asp243Tyr)
|
rs752022665
|
0.00001
|
|
NM_001972.4(ELANE):c.748G>A (p.Glu250Lys)
|
rs1568306204
|
0.00001
|
|
NM_001972.4(ELANE):c.772C>T (p.Arg258Trp)
|
rs747957936
|
0.00001
|
|
NM_001972.4(ELANE):c.786G>A (p.Pro262=)
|
rs762273987
|
0.00001
|
|
NM_001972.4(ELANE):c.9C>T (p.Leu3=)
|
rs1199528225
|
0.00001
|
|
NM_003467.3(CXCR4):c.1022C>A (p.Ser341Tyr)
|
rs148454403
|
0.00001
|
|
NM_003467.3(CXCR4):c.1054A>G (p.Ser352Gly)
|
rs750756138
|
0.00001
|
|
NM_003467.3(CXCR4):c.137C>G (p.Ser46Cys)
|
rs147467366
|
0.00001
|
|
NM_003467.3(CXCR4):c.15+18C>T
|
rs774545896
|
0.00001
|
|
NM_003467.3(CXCR4):c.16-24T>C
|
rs776615103
|
0.00001
|
|
NM_003467.3(CXCR4):c.171A>G (p.Gly57=)
|
rs533290861
|
0.00001
|
|
NM_003467.3(CXCR4):c.345C>G (p.Ile115Met)
|
rs1051557
|
0.00001
|
|
NM_003467.3(CXCR4):c.373C>G (p.Leu125Val)
|
rs1001278766
|
0.00001
|
|
NM_003467.3(CXCR4):c.39C>G (p.Thr13=)
|
rs375868851
|
0.00001
|
|
NM_003467.3(CXCR4):c.477C>T (p.Gly159=)
|
rs1259138331
|
0.00001
|
|
NM_003467.3(CXCR4):c.478G>A (p.Val160Ile)
|
rs147198552
|
0.00001
|
|
NM_003467.3(CXCR4):c.516C>A (p.Phe172Leu)
|
rs764678610
|
0.00001
|
|
NM_003467.3(CXCR4):c.528C>T (p.Asn176=)
|
rs113338664
|
0.00001
|
|
NM_003467.3(CXCR4):c.586G>A (p.Val196Met)
|
rs748098105
|
0.00001
|
|
NM_003467.3(CXCR4):c.727A>C (p.Ile243Leu)
|
rs762937679
|
0.00001
|
|
NM_003467.3(CXCR4):c.747C>A (p.Phe249Leu)
|
rs779760942
|
0.00001
|
|
NM_003664.5(AP3B1):c.*141T>C
|
rs753283084
|
0.00001
|
|
NM_003664.5(AP3B1):c.*447C>T
|
rs886060768
|
0.00001
|
|
NM_003664.5(AP3B1):c.1020G>A (p.Val340=)
|
rs145787996
|
0.00001
|
|
NM_003664.5(AP3B1):c.1021C>T (p.Arg341Cys)
|
rs964935640
|
0.00001
|
|
NM_003664.5(AP3B1):c.1034G>A (p.Ser345Asn)
|
rs750036781
|
0.00001
|
|
NM_003664.5(AP3B1):c.1040+14T>A
|
rs1355146687
|
0.00001
|
|
NM_003664.5(AP3B1):c.1040+20A>G
|
rs369301345
|
0.00001
|
|
NM_003664.5(AP3B1):c.1041-9G>T
|
rs1474245373
|
0.00001
|
|
NM_003664.5(AP3B1):c.104G>T (p.Gly35Val)
|
rs1749668081
|
0.00001
|
|
NM_003664.5(AP3B1):c.1095+19C>T
|
rs377078977
|
0.00001
|
|
NM_003664.5(AP3B1):c.1140T>G (p.Thr380=)
|
rs752592265
|
0.00001
|
|
NM_003664.5(AP3B1):c.1159A>G (p.Thr387Ala)
|
rs762030946
|
0.00001
|
|
NM_003664.5(AP3B1):c.1160C>T (p.Thr387Ile)
|
rs1744114827
|
0.00001
|
|
NM_003664.5(AP3B1):c.1161A>T (p.Thr387=)
|
rs746601394
|
0.00001
|
|
NM_003664.5(AP3B1):c.1176T>G (p.Ile392Met)
|
rs758680279
|
0.00001
|
|
NM_003664.5(AP3B1):c.1220G>A (p.Arg407Gln)
|
rs779980435
|
0.00001
|
|
NM_003664.5(AP3B1):c.1234T>C (p.Tyr412His)
|
rs781034104
|
0.00001
|
|
NM_003664.5(AP3B1):c.1236T>C (p.Tyr412=)
|
rs1468639815
|
0.00001
|
|
NM_003664.5(AP3B1):c.1241A>G (p.Lys414Arg)
|
rs778910104
|
0.00001
|
|
NM_003664.5(AP3B1):c.1275T>C (p.Ile425=)
|
rs1174063218
|
0.00001
|
|
NM_003664.5(AP3B1):c.1282A>G (p.Ile428Val)
|
rs201185966
|
0.00001
|
|
NM_003664.5(AP3B1):c.1311A>T (p.Glu437Asp)
|
rs1160297829
|
0.00001
|
|
NM_003664.5(AP3B1):c.1343G>A (p.Cys448Tyr)
|
rs201877252
|
0.00001
|
|
NM_003664.5(AP3B1):c.1363G>A (p.Glu455Lys)
|
rs1204234337
|
0.00001
|
|
NM_003664.5(AP3B1):c.1364-11A>G
|
rs759174401
|
0.00001
|
|
NM_003664.5(AP3B1):c.136G>A (p.Asp46Asn)
|
rs768641911
|
0.00001
|
|
NM_003664.5(AP3B1):c.1421C>T (p.Ala474Val)
|
rs191850940
|
0.00001
|
|
NM_003664.5(AP3B1):c.1424A>G (p.Gln475Arg)
|
rs1743147205
|
0.00001
|
|
NM_003664.5(AP3B1):c.1445A>G (p.His482Arg)
|
rs370497154
|
0.00001
|
|
NM_003664.5(AP3B1):c.1467T>C (p.Ser489=)
|
rs772984182
|
0.00001
|
|
NM_003664.5(AP3B1):c.1554G>C (p.Leu518Phe)
|
rs1364578273
|
0.00001
|
|
NM_003664.5(AP3B1):c.1648C>G (p.Gln550Glu)
|
rs1384754808
|
0.00001
|
|
NM_003664.5(AP3B1):c.1650+14G>A
|
rs753974452
|
0.00001
|
|
NM_003664.5(AP3B1):c.1679A>G (p.Asn560Ser)
|
rs776064198
|
0.00001
|
|
NM_003664.5(AP3B1):c.168T>A (p.Asp56Glu)
|
rs1274489549
|
0.00001
|
|
NM_003664.5(AP3B1):c.1718G>A (p.Arg573His)
|
rs1229904606
|
0.00001
|
|
NM_003664.5(AP3B1):c.176A>G (p.Lys59Arg)
|
rs1300050218
|
0.00001
|
|
NM_003664.5(AP3B1):c.1837+10G>A
|
rs1028071929
|
0.00001
|
|
NM_003664.5(AP3B1):c.1873A>T (p.Thr625Ser)
|
rs199908785
|
0.00001
|
|
NM_003664.5(AP3B1):c.1890T>C (p.Ala630=)
|
rs774196917
|
0.00001
|
|
NM_003664.5(AP3B1):c.1903G>A (p.Glu635Lys)
|
rs1381722917
|
0.00001
|
|
NM_003664.5(AP3B1):c.1932C>T (p.Pro644=)
|
rs368771979
|
0.00001
|
|
NM_003664.5(AP3B1):c.1934A>C (p.Asp645Ala)
|
rs1317710866
|
0.00001
|
|
NM_003664.5(AP3B1):c.1946G>A (p.Arg649Gln)
|
rs748191084
|
0.00001
|
|
NM_003664.5(AP3B1):c.1968+9A>G
|
rs750895201
|
0.00001
|
|
NM_003664.5(AP3B1):c.1972A>G (p.Lys658Glu)
|
rs1357683810
|
0.00001
|
|
NM_003664.5(AP3B1):c.2007G>T (p.Glu669Asp)
|
rs781781671
|
0.00001
|
|
NM_003664.5(AP3B1):c.2018A>G (p.Lys673Arg)
|
rs763619135
|
0.00001
|
|
NM_003664.5(AP3B1):c.2022G>C (p.Lys674Asn)
|
rs752440818
|
0.00001
|
|
NM_003664.5(AP3B1):c.205-10T>A
|
rs1340696750
|
0.00001
|
|
NM_003664.5(AP3B1):c.2077+6T>C
|
rs1432974932
|
0.00001
|
|
NM_003664.5(AP3B1):c.2120G>A (p.Gly707Glu)
|
rs1244138366
|
0.00001
|
|
NM_003664.5(AP3B1):c.2189G>A (p.Arg730Gln)
|
rs933653334
|
0.00001
|
|
NM_003664.5(AP3B1):c.2210A>G (p.Lys737Arg)
|
rs780784576
|
0.00001
|
|
NM_003664.5(AP3B1):c.2250-13C>T
|
rs774882416
|
0.00001
|
|
NM_003664.5(AP3B1):c.2311G>A (p.Glu771Lys)
|
rs758351076
|
0.00001
|
|
NM_003664.5(AP3B1):c.2329G>A (p.Asp777Asn)
|
rs751538828
|
0.00001
|
|
NM_003664.5(AP3B1):c.2384G>A (p.Arg795Lys)
|
rs1017591456
|
0.00001
|
|
NM_003664.5(AP3B1):c.2482T>C (p.Ser828Pro)
|
rs768483549
|
0.00001
|
|
NM_003664.5(AP3B1):c.2492T>A (p.Val831Asp)
|
rs149948974
|
0.00001
|
|
NM_003664.5(AP3B1):c.2502C>G (p.Pro834=)
|
rs747086403
|
0.00001
|
|
NM_003664.5(AP3B1):c.2527A>G (p.Met843Val)
|
rs201609994
|
0.00001
|
|
NM_003664.5(AP3B1):c.2587C>G (p.Pro863Ala)
|
rs1056281695
|
0.00001
|
|
NM_003664.5(AP3B1):c.2622T>G (p.Leu874=)
|
rs1471301912
|
0.00001
|
|
NM_003664.5(AP3B1):c.2627G>A (p.Arg876Gln)
|
rs772186737
|
0.00001
|
|
NM_003664.5(AP3B1):c.2651C>T (p.Ala884Val)
|
rs1225801616
|
0.00001
|
|
NM_003664.5(AP3B1):c.2686G>C (p.Gly896Arg)
|
rs1338111569
|
0.00001
|
|
NM_003664.5(AP3B1):c.2708A>C (p.Gln903Pro)
|
rs1240100716
|
0.00001
|
|
NM_003664.5(AP3B1):c.2758G>T (p.Gly920Trp)
|
rs759300647
|
0.00001
|
|
NM_003664.5(AP3B1):c.2776A>G (p.Ile926Val)
|
rs558325834
|
0.00001
|
|
NM_003664.5(AP3B1):c.2799T>A (p.Phe933Leu)
|
rs1747935041
|
0.00001
|
|
NM_003664.5(AP3B1):c.27T>G (p.Asn9Lys)
|
rs1170215351
|
0.00001
|
|
NM_003664.5(AP3B1):c.2809+14C>A
|
rs754832294
|
0.00001
|
|
NM_003664.5(AP3B1):c.2809+16C>T
|
rs951058281
|
0.00001
|
|
NM_003664.5(AP3B1):c.2809+4A>G
|
rs747843144
|
0.00001
|
|
NM_003664.5(AP3B1):c.2822C>A (p.Pro941His)
|
rs1022482616
|
0.00001
|
|
NM_003664.5(AP3B1):c.2853T>C (p.Ile951=)
|
rs1263221940
|
0.00001
|
|
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=)
|
rs750377910
|
0.00001
|
|
NM_003664.5(AP3B1):c.2894+4A>G
|
rs544214699
|
0.00001
|
|
NM_003664.5(AP3B1):c.2897C>T (p.Thr966Ile)
|
rs369459422
|
0.00001
|
|
NM_003664.5(AP3B1):c.2922T>C (p.Asn974=)
|
rs1256709729
|
0.00001
|
|
NM_003664.5(AP3B1):c.2928G>A (p.Gln976=)
|
rs1199672973
|
0.00001
|
|
NM_003664.5(AP3B1):c.292G>A (p.Val98Ile)
|
rs780459865
|
0.00001
|
|
NM_003664.5(AP3B1):c.2992+20T>C
|
rs755171790
|
0.00001
|
|
NM_003664.5(AP3B1):c.2992+3G>A
|
rs779017901
|
0.00001
|
|
NM_003664.5(AP3B1):c.3044A>G (p.Gln1015Arg)
|
rs780143358
|
0.00001
|
|
NM_003664.5(AP3B1):c.306G>C (p.Leu102=)
|
rs746322233
|
0.00001
|
|
NM_003664.5(AP3B1):c.3131+1G>A
|
rs766116144
|
0.00001
|
|
NM_003664.5(AP3B1):c.3136G>A (p.Ala1046Thr)
|
rs776628092
|
0.00001
|
|
NM_003664.5(AP3B1):c.3168G>T (p.Met1056Ile)
|
rs535976982
|
0.00001
|
|
NM_003664.5(AP3B1):c.3190G>A (p.Glu1064Lys)
|
rs767072786
|
0.00001
|
|
NM_003664.5(AP3B1):c.3194G>A (p.Gly1065Asp)
|
rs761729448
|
0.00001
|
|
NM_003664.5(AP3B1):c.3214A>G (p.Ile1072Val)
|
rs760735640
|
0.00001
|
|
NM_003664.5(AP3B1):c.3226A>G (p.Lys1076Glu)
|
rs976542118
|
0.00001
|
|
NM_003664.5(AP3B1):c.3230C>T (p.Thr1077Ile)
|
rs773537846
|
0.00001
|
|
NM_003664.5(AP3B1):c.382A>G (p.Asn128Asp)
|
rs758062316
|
0.00001
|
|
NM_003664.5(AP3B1):c.536+9A>G
|
rs771528600
|
0.00001
|
|
NM_003664.5(AP3B1):c.537-7T>A
|
rs773657171
|
0.00001
|
|
NM_003664.5(AP3B1):c.557A>C (p.Glu186Ala)
|
rs778281326
|
0.00001
|
|
NM_003664.5(AP3B1):c.565A>G (p.Ile189Val)
|
rs1393665689
|
0.00001
|
|
NM_003664.5(AP3B1):c.603+3A>G
|
rs1357382699
|
0.00001
|
|
NM_003664.5(AP3B1):c.637G>C (p.Glu213Gln)
|
rs1485047029
|
0.00001
|
|
NM_003664.5(AP3B1):c.739A>C (p.Met247Leu)
|
rs1271543780
|
0.00001
|
|
NM_003664.5(AP3B1):c.813G>T (p.Lys271Asn)
|
rs914618490
|
0.00001
|
|
NM_003664.5(AP3B1):c.821A>G (p.Tyr274Cys)
|
rs989736183
|
0.00001
|
|
NM_003664.5(AP3B1):c.855C>T (p.Asp285=)
|
rs79932334
|
0.00001
|
|
NM_003664.5(AP3B1):c.869C>T (p.Pro290Leu)
|
rs759296897
|
0.00001
|
|
NM_003664.5(AP3B1):c.870G>A (p.Pro290=)
|
rs566729844
|
0.00001
|
|
NM_003664.5(AP3B1):c.883C>A (p.Pro295Thr)
|
rs570476100
|
0.00001
|
|
NM_003664.5(AP3B1):c.911C>T (p.Thr304Ile)
|
rs201075567
|
0.00001
|
|
NM_003664.5(AP3B1):c.929G>C (p.Ser310Thr)
|
rs778226822
|
0.00001
|
|
NM_003664.5(AP3B1):c.941C>T (p.Ala314Val)
|
rs753218867
|
0.00001
|
|
NM_003664.5(AP3B1):c.954A>C (p.Ala318=)
|
rs1744193916
|
0.00001
|
|
NM_003664.5(AP3B1):c.97G>T (p.Ala33Ser)
|
rs773073407
|
0.00001
|
|
NM_005263.5(GFI1):c.1120G>A (p.Gly374Ser)
|
rs367740686
|
0.00001
|
|
NM_005263.5(GFI1):c.1251G>A (p.Thr417=)
|
rs757855720
|
0.00001
|
|
NM_005263.5(GFI1):c.181C>G (p.Leu61Val)
|
rs779976283
|
0.00001
|
|
NM_005263.5(GFI1):c.303G>A (p.Ser101=)
|
rs766935424
|
0.00001
|
|
NM_005263.5(GFI1):c.313A>G (p.Met105Val)
|
rs1290770390
|
0.00001
|
|
NM_005263.5(GFI1):c.336C>A (p.Ala112=)
|
rs1255866723
|
0.00001
|
|
NM_005263.5(GFI1):c.383C>A (p.Ala128Glu)
|
rs371451553
|
0.00001
|
|
NM_005263.5(GFI1):c.390T>C (p.Ser130=)
|
rs982399913
|
0.00001
|
|
NM_005263.5(GFI1):c.39C>T (p.His13=)
|
rs371677124
|
0.00001
|
|
NM_005263.5(GFI1):c.401A>C (p.His134Pro)
|
rs1475018499
|
0.00001
|
|
NM_005263.5(GFI1):c.419G>A (p.Arg140Gln)
|
rs551351361
|
0.00001
|
|
NM_005263.5(GFI1):c.46C>T (p.His16Tyr)
|
rs772644896
|
0.00001
|
|
NM_005263.5(GFI1):c.516G>T (p.Arg172=)
|
rs1391305912
|
0.00001
|
|
NM_005263.5(GFI1):c.528C>T (p.Gly176=)
|
rs1184904073
|
0.00001
|
|
NM_005263.5(GFI1):c.541G>A (p.Ala181Thr)
|
rs1345753394
|
0.00001
|
|
NM_005263.5(GFI1):c.576C>G (p.Thr192=)
|
rs181638652
|
0.00001
|
|
NM_005263.5(GFI1):c.594G>A (p.Gly198=)
|
rs1470754174
|
0.00001
|
|
NM_005263.5(GFI1):c.603C>T (p.Gly201=)
|
rs1230474672
|
0.00001
|
|
NM_005263.5(GFI1):c.656G>A (p.Gly219Asp)
|
rs769364541
|
0.00001
|
|
NM_005263.5(GFI1):c.666C>T (p.Tyr222=)
|
rs771550817
|
0.00001
|
|
NM_005263.5(GFI1):c.714G>T (p.Lys238Asn)
|
rs1337988180
|
0.00001
|
|
NM_005263.5(GFI1):c.757G>A (p.Gly253Ser)
|
rs772484731
|
0.00001
|
|
NM_005263.5(GFI1):c.82C>T (p.Arg28Cys)
|
rs1658376108
|
0.00001
|
|
NM_005263.5(GFI1):c.868G>C (p.Gly290Arg)
|
rs1391091980
|
0.00001
|
|
NM_005263.5(GFI1):c.924+11G>A
|
rs1471107230
|
0.00001
|
|
NM_005263.5(GFI1):c.924+14G>A
|
rs1007325566
|
0.00001
|
|
NM_005263.5(GFI1):c.948C>A (p.Ile316=)
|
rs372553729
|
0.00001
|
|
NM_006118.4(HAX1):c.106G>A (p.Glu36Lys)
|
rs754167096
|
0.00001
|
|
NM_006118.4(HAX1):c.12T>C (p.Phe4=)
|
rs1490644075
|
0.00001
|
|
NM_006118.4(HAX1):c.150G>T (p.Arg50Ser)
|
rs762584289
|
0.00001
|
|
NM_006118.4(HAX1):c.180A>G (p.Glu60=)
|
rs950658160
|
0.00001
|
|
NM_006118.4(HAX1):c.193T>G (p.Phe65Val)
|
rs1648509630
|
0.00001
|
|
NM_006118.4(HAX1):c.228C>T (p.His76=)
|
rs1684867511
|
0.00001
|
|
NM_006118.4(HAX1):c.270C>T (p.Ser90=)
|
rs754177724
|
0.00001
|
|
NM_006118.4(HAX1):c.316+19G>A
|
rs747989063
|
0.00001
|
|
NM_006118.4(HAX1):c.337G>T (p.Glu113Ter)
|
rs374758765
|
0.00001
|
|
NM_006118.4(HAX1):c.357A>G (p.Leu119=)
|
rs762197407
|
0.00001
|
|
NM_006118.4(HAX1):c.358C>T (p.Arg120Trp)
|
rs886045320
|
0.00001
|
|
NM_006118.4(HAX1):c.36C>G (p.Gly12=)
|
rs201477841
|
0.00001
|
|
NM_006118.4(HAX1):c.393G>A (p.Lys131=)
|
rs763126649
|
0.00001
|
|
NM_006118.4(HAX1):c.407del (p.His136fs)
|
rs748595772
|
0.00001
|
|
NM_006118.4(HAX1):c.459C>T (p.Ser153=)
|
rs1306497969
|
0.00001
|
|
NM_006118.4(HAX1):c.461C>T (p.Pro154Leu)
|
rs1389861333
|
0.00001
|
|
NM_006118.4(HAX1):c.465A>G (p.Gln155=)
|
rs1684879648
|
0.00001
|
|
NM_006118.4(HAX1):c.469G>A (p.Ala157Thr)
|
rs745643366
|
0.00001
|
|
NM_006118.4(HAX1):c.46C>T (p.Pro16Ser)
|
rs763746492
|
0.00001
|
|
NM_006118.4(HAX1):c.504+7A>G
|
rs1684881000
|
0.00001
|
|
NM_006118.4(HAX1):c.504+7dup
|
rs1300694878
|
0.00001
|
|
NM_006118.4(HAX1):c.505-9C>T
|
rs779604569
|
0.00001
|
|
NM_006118.4(HAX1):c.53+9A>C
|
rs756747610
|
0.00001
|
|
NM_006118.4(HAX1):c.54-4T>A
|
rs908920404
|
0.00001
|
|
NM_006118.4(HAX1):c.54-6T>C
|
rs556100256
|
0.00001
|
|
NM_006118.4(HAX1):c.549G>A (p.Glu183=)
|
rs535226830
|
0.00001
|
|
NM_006118.4(HAX1):c.557-19C>T
|
rs1050683276
|
0.00001
|
|
NM_006118.4(HAX1):c.571G>A (p.Val191Ile)
|
rs1024291441
|
0.00001
|
|
NM_006118.4(HAX1):c.57C>T (p.His19=)
|
rs941774283
|
0.00001
|
|
NM_006118.4(HAX1):c.636T>C (p.Ser212=)
|
rs146312637
|
0.00001
|
|
NM_006118.4(HAX1):c.660T>C (p.Asp220=)
|
rs746250096
|
0.00001
|
|
NM_006118.4(HAX1):c.663+1G>A
|
rs41313932
|
0.00001
|
|
NM_006118.4(HAX1):c.664-10C>T
|
rs369087332
|
0.00001
|
|
NM_006118.4(HAX1):c.680G>T (p.Arg227Leu)
|
rs747372275
|
0.00001
|
|
NM_006118.4(HAX1):c.685G>C (p.Val229Leu)
|
rs1465330876
|
0.00001
|
|
NM_006118.4(HAX1):c.700G>A (p.Gly234Ser)
|
rs1287019123
|
0.00001
|
|
NM_006118.4(HAX1):c.736G>C (p.Asp246His)
|
rs375477111
|
0.00001
|
|
NM_006118.4(HAX1):c.755-6C>T
|
rs749368917
|
0.00001
|
|
NM_006118.4(HAX1):c.795T>C (p.Phe265=)
|
rs886038568
|
0.00001
|
|
NM_006118.4(HAX1):c.798C>T (p.Ser266=)
|
rs762492730
|
0.00001
|
|
NM_006118.4(HAX1):c.809T>C (p.Leu270Ser)
|
rs759963419
|
0.00001
|
|
NM_006118.4(HAX1):c.811T>C (p.Phe271Leu)
|
rs375704974
|
0.00001
|
|
NM_006118.4(HAX1):c.822T>C (p.Arg274=)
|
rs756399040
|
0.00001
|
|
NM_006118.4(HAX1):c.836G>A (p.Arg279Gln)
|
rs746872949
|
0.00001
|
|
NM_006118.4(HAX1):c.837G>A (p.Arg279=)
|
rs780915317
|
0.00001
|
|
NM_007183.4(PKP3):c.118C>T (p.Arg40Trp)
|
rs1052027375
|
0.00001
|
|
NM_007259.5(VPS45):c.1002G>C (p.Val334=)
|
rs1655788033
|
0.00001
|
|
NM_007259.5(VPS45):c.1014G>A (p.Leu338=)
|
rs1035463342
|
0.00001
|
|
NM_007259.5(VPS45):c.1018C>T (p.Arg340Ter)
|
rs782504130
|
0.00001
|
|
NM_007259.5(VPS45):c.1023G>A (p.Leu341=)
|
rs781805887
|
0.00001
|
|
NM_007259.5(VPS45):c.1104+10A>G
|
rs1259869305
|
0.00001
|
|
NM_007259.5(VPS45):c.1141G>A (p.Glu381Lys)
|
rs1656346466
|
0.00001
|
|
NM_007259.5(VPS45):c.1162G>A (p.Val388Met)
|
rs782104716
|
0.00001
|
|
NM_007259.5(VPS45):c.1164G>A (p.Val388=)
|
rs370958835
|
0.00001
|
|
NM_007259.5(VPS45):c.1179A>G (p.Leu393=)
|
rs1656349407
|
0.00001
|
|
NM_007259.5(VPS45):c.1231A>G (p.Arg411Gly)
|
rs782194772
|
0.00001
|
|
NM_007259.5(VPS45):c.1255T>C (p.Tyr419His)
|
rs782431885
|
0.00001
|
|
NM_007259.5(VPS45):c.1260A>G (p.Arg420=)
|
rs1656355917
|
0.00001
|
|
NM_007259.5(VPS45):c.1326C>T (p.Pro442=)
|
rs371945894
|
0.00001
|
|
NM_007259.5(VPS45):c.1335T>C (p.Ala445=)
|
rs1330742139
|
0.00001
|
|
NM_007259.5(VPS45):c.1338G>A (p.Val446=)
|
rs1656378115
|
0.00001
|
|
NM_007259.5(VPS45):c.1344C>T (p.Ile448=)
|
rs933924434
|
0.00001
|
|
NM_007259.5(VPS45):c.1372-9C>T
|
rs201173713
|
0.00001
|
|
NM_007259.5(VPS45):c.1372-9_1372-8del
|
rs782327109
|
0.00001
|
|
NM_007259.5(VPS45):c.1448A>G (p.Lys483Arg)
|
rs917642055
|
0.00001
|
|
NM_007259.5(VPS45):c.1458A>G (p.Leu486=)
|
rs782320365
|
0.00001
|
|
NM_007259.5(VPS45):c.1516G>A (p.Val506Ile)
|
rs1323351672
|
0.00001
|
|
NM_007259.5(VPS45):c.1535A>G (p.Tyr512Cys)
|
rs782797599
|
0.00001
|
|
NM_007259.5(VPS45):c.1625+19T>G
|
rs1003447515
|
0.00001
|
|
NM_007259.5(VPS45):c.1676G>C (p.Ser559Thr)
|
rs782327338
|
0.00001
|
|
NM_007259.5(VPS45):c.192A>T (p.Lys64Asn)
|
rs1441537795
|
0.00001
|
|
NM_007259.5(VPS45):c.200A>G (p.Lys67Arg)
|
rs1348750495
|
0.00001
|
|
NM_007259.5(VPS45):c.201G>A (p.Lys67=)
|
rs782546296
|
0.00001
|
|
NM_007259.5(VPS45):c.210T>C (p.Cys70=)
|
rs782670487
|
0.00001
|
|
NM_007259.5(VPS45):c.229-19C>T
|
rs1400300011
|
0.00001
|
|
NM_007259.5(VPS45):c.234T>C (p.Asn78=)
|
rs782045429
|
0.00001
|
|
NM_007259.5(VPS45):c.257T>C (p.Leu86Pro)
|
rs782513242
|
0.00001
|
|
NM_007259.5(VPS45):c.290-11_290-10del
|
rs1389688490
|
0.00001
|
|
NM_007259.5(VPS45):c.299A>G (p.Asn100Ser)
|
rs139341274
|
0.00001
|
|
NM_007259.5(VPS45):c.345A>G (p.Glu115=)
|
rs1655380604
|
0.00001
|
|
NM_007259.5(VPS45):c.353T>G (p.Val118Gly)
|
rs1298740891
|
0.00001
|
|
NM_007259.5(VPS45):c.439-14T>G
|
rs781842590
|
0.00001
|
|
NM_007259.5(VPS45):c.457G>A (p.Ala153Thr)
|
rs781964646
|
0.00001
|
|
NM_007259.5(VPS45):c.466T>G (p.Ser156Ala)
|
rs1553798269
|
0.00001
|
|
NM_007259.5(VPS45):c.475A>G (p.Thr159Ala)
|
rs142551106
|
0.00001
|
|
NM_007259.5(VPS45):c.481G>A (p.Gly161Arg)
|
rs200134576
|
0.00001
|
|
NM_007259.5(VPS45):c.48G>A (p.Glu16=)
|
rs1250860828
|
0.00001
|
|
NM_007259.5(VPS45):c.526C>T (p.Arg176Cys)
|
rs782677308
|
0.00001
|
|
NM_007259.5(VPS45):c.580G>A (p.Val194Met)
|
rs587713385
|
0.00001
|
|
NM_007259.5(VPS45):c.596A>C (p.Tyr199Ser)
|
rs368347807
|
0.00001
|
|
NM_007259.5(VPS45):c.613C>T (p.Arg205Cys)
|
rs908608470
|
0.00001
|
|
NM_007259.5(VPS45):c.617G>A (p.Arg206Gln)
|
rs782495021
|
0.00001
|
|
NM_007259.5(VPS45):c.624G>A (p.Glu208=)
|
rs782290162
|
0.00001
|
|
NM_007259.5(VPS45):c.64A>G (p.Met22Val)
|
rs782253570
|
0.00001
|
|
NM_007259.5(VPS45):c.652C>T (p.Arg218Cys)
|
rs1571825459
|
0.00001
|
|
NM_007259.5(VPS45):c.679C>T (p.Leu227=)
|
rs1655478636
|
0.00001
|
|
NM_007259.5(VPS45):c.712G>A (p.Glu238Lys)
|
rs782269909
|
0.00001
|
|
NM_007259.5(VPS45):c.718C>G (p.Leu240Val)
|
rs587716374
|
0.00001
|
|
NM_007259.5(VPS45):c.759G>A (p.Pro253=)
|
rs782131359
|
0.00001
|
|
NM_007259.5(VPS45):c.765C>T (p.Ile255=)
|
rs1329207920
|
0.00001
|
|
NM_007259.5(VPS45):c.78C>T (p.Leu26=)
|
rs1233278099
|
0.00001
|
|
NM_007259.5(VPS45):c.823-8T>C
|
rs1019641850
|
0.00001
|
|
NM_007259.5(VPS45):c.857A>G (p.Asn286Ser)
|
rs782164464
|
0.00001
|
|
NM_007259.5(VPS45):c.898A>G (p.Lys300Glu)
|
rs782739886
|
0.00001
|
|
NM_007259.5(VPS45):c.906G>A (p.Gln302=)
|
rs781829979
|
0.00001
|
|
NM_007259.5(VPS45):c.915A>G (p.Leu305=)
|
rs1385543985
|
0.00001
|
|
NM_007259.5(VPS45):c.930C>T (p.Asp310=)
|
rs145369624
|
0.00001
|
|
NM_007259.5(VPS45):c.937-7A>G
|
rs1177905127
|
0.00001
|
|
NM_007259.5(VPS45):c.93G>A (p.Thr31=)
|
rs1387315578
|
0.00001
|
|
NM_007259.5(VPS45):c.94-5T>C
|
rs1553796313
|
0.00001
|
|
NM_007259.5(VPS45):c.957A>C (p.Pro319=)
|
rs587769473
|
0.00001
|
|
NM_014017.4(LAMTOR2):c.*23C>A
|
rs1306489180
|
0.00001
|
|
NM_014017.4(LAMTOR2):c.47C>T (p.Thr16Ile)
|
rs763874836
|
0.00001
|
|
NM_015122.3(FCHO1):c.489+1G>A
|
rs2091196149
|
0.00001
|
|
NM_017890.5(VPS13B):c.4180T>C (p.Leu1394=)
|
rs1246500568
|
0.00001
|
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
|
NM_017890.5(VPS13B):c.4195G>A (p.Gly1399Ser)
|
rs776321717
|
0.00001
|
|
NM_017890.5(VPS13B):c.4218C>T (p.Asp1406=)
|
rs1227316936
|
0.00001
|
|
NM_017890.5(VPS13B):c.4232G>A (p.Arg1411His)
|
rs1821581494
|
0.00001
|
|
NM_017890.5(VPS13B):c.4233C>T (p.Arg1411=)
|
rs949322913
|
0.00001
|
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
|
NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)
|
rs145741622
|
0.00001
|
|
NM_017890.5(VPS13B):c.4281C>T (p.Cys1427=)
|
rs1563767252
|
0.00001
|
|
NM_024598.4(USB1):c.243G>A (p.Trp81Ter)
|
rs137853973
|
0.00001
|
|
NM_024598.4(USB1):c.673C>T (p.Gln225Ter)
|
rs1459714680
|
0.00001
|
|
NM_032492.4(JAGN1):c.117G>A (p.Lys39=)
|
rs763900045
|
0.00001
|
|
NM_032492.4(JAGN1):c.11G>C (p.Arg4Pro)
|
rs569985954
|
0.00001
|
|
NM_032492.4(JAGN1):c.123C>A (p.Ile41=)
|
rs140024249
|
0.00001
|
|
NM_032492.4(JAGN1):c.124T>C (p.Tyr42His)
|
rs753747801
|
0.00001
|
|
NM_032492.4(JAGN1):c.168C>T (p.Ser56=)
|
rs1265469155
|
0.00001
|
|
NM_032492.4(JAGN1):c.172G>A (p.Gly58Arg)
|
rs919986813
|
0.00001
|
|
NM_032492.4(JAGN1):c.179T>C (p.Leu60Pro)
|
rs1297627583
|
0.00001
|
|
NM_032492.4(JAGN1):c.319A>G (p.Met107Val)
|
rs776475085
|
0.00001
|
|
NM_032492.4(JAGN1):c.330T>C (p.Phe110=)
|
rs2082574589
|
0.00001
|
|
NM_032492.4(JAGN1):c.334A>G (p.Ile112Val)
|
rs762026143
|
0.00001
|
|
NM_032492.4(JAGN1):c.389A>G (p.Tyr130Cys)
|
rs779485881
|
0.00001
|
|
NM_032492.4(JAGN1):c.39C>T (p.Asp13=)
|
rs751452713
|
0.00001
|
|
NM_032492.4(JAGN1):c.485A>G (p.Gln162Arg)
|
rs587777730
|
0.00001
|
|
NM_032492.4(JAGN1):c.503A>G (p.Lys168Arg)
|
rs749080431
|
0.00001
|
|
NM_032492.4(JAGN1):c.52C>A (p.Gln18Lys)
|
rs200485958
|
0.00001
|
|
NM_032492.4(JAGN1):c.542A>G (p.Lys181Arg)
|
rs1387440057
|
0.00001
|
|
NM_032492.4(JAGN1):c.56A>G (p.His19Arg)
|
rs748123071
|
0.00001
|
|
NM_032492.4(JAGN1):c.59G>A (p.Arg20Gln)
|
rs777966677
|
0.00001
|
|
NM_032492.4(JAGN1):c.90-9G>C
|
rs762370289
|
0.00001
|
|
NM_138387.4(G6PC3):c.-149G>A
|
rs1567967341
|
0.00001
|
|
NM_138387.4(G6PC3):c.-48G>A
|
rs746461072
|
0.00001
|
|
NM_138387.4(G6PC3):c.1022C>T (p.Pro341Leu)
|
rs762536153
|
0.00001
|
|
NM_138387.4(G6PC3):c.1030C>T (p.His344Tyr)
|
rs1347079621
|
0.00001
|
|
NM_138387.4(G6PC3):c.11C>T (p.Thr4Met)
|
rs750937874
|
0.00001
|
|
NM_138387.4(G6PC3):c.132C>T (p.Pro44=)
|
rs200427598
|
0.00001
|
|
NM_138387.4(G6PC3):c.210del (p.Phe71fs)
|
rs769441127
|
0.00001
|
|
NM_138387.4(G6PC3):c.218+1G>A
|
rs772298089
|
0.00001
|
|
NM_138387.4(G6PC3):c.21G>T (p.Ala7=)
|
rs1322272335
|
0.00001
|
|
NM_138387.4(G6PC3):c.281C>T (p.Pro94Leu)
|
rs1356446581
|
0.00001
|
|
NM_138387.4(G6PC3):c.300C>A (p.Phe100Leu)
|
rs1336165706
|
0.00001
|
|
NM_138387.4(G6PC3):c.380C>T (p.Thr127Met)
|
rs748177654
|
0.00001
|
|
NM_138387.4(G6PC3):c.399G>A (p.Val133=)
|
rs1191355690
|
0.00001
|
|
NM_138387.4(G6PC3):c.412C>T (p.Arg138Cys)
|
rs762486955
|
0.00001
|
|
NM_138387.4(G6PC3):c.42G>A (p.Ala14=)
|
rs778761991
|
0.00001
|
|
NM_138387.4(G6PC3):c.479C>T (p.Ser160Leu)
|
rs911423195
|
0.00001
|
|
NM_138387.4(G6PC3):c.536-12C>A
|
rs766176177
|
0.00001
|
|
NM_138387.4(G6PC3):c.536-3T>G
|
rs752548565
|
0.00001
|
|
NM_138387.4(G6PC3):c.54G>A (p.Gln18=)
|
rs2049967702
|
0.00001
|
|
NM_138387.4(G6PC3):c.573T>C (p.Pro191=)
|
rs1290235695
|
0.00001
|
|
NM_138387.4(G6PC3):c.580C>T (p.Arg194Trp)
|
rs748638373
|
0.00001
|
|
NM_138387.4(G6PC3):c.591C>T (p.Ser197=)
|
rs766506200
|
0.00001
|
|
NM_138387.4(G6PC3):c.620T>C (p.Met207Thr)
|
rs758281781
|
0.00001
|
|
NM_138387.4(G6PC3):c.642T>C (p.Tyr214=)
|
rs756698645
|
0.00001
|
|
NM_138387.4(G6PC3):c.677+10G>A
|
rs776838775
|
0.00001
|
|
NM_138387.4(G6PC3):c.677+4A>G
|
rs1356008417
|
0.00001
|
|
NM_138387.4(G6PC3):c.678-14C>A
|
rs1418045272
|
0.00001
|
|
NM_138387.4(G6PC3):c.709C>T (p.Arg237Trp)
|
rs763307095
|
0.00001
|
|
NM_138387.4(G6PC3):c.758G>A (p.Arg253His)
|
rs118203968
|
0.00001
|
|
NM_138387.4(G6PC3):c.773C>T (p.Ala258Val)
|
rs1016698344
|
0.00001
|
|
NM_138387.4(G6PC3):c.809A>G (p.Tyr270Cys)
|
rs749505455
|
0.00001
|
|
NM_138387.4(G6PC3):c.821G>A (p.Arg274His)
|
rs773183765
|
0.00001
|
|
NM_138387.4(G6PC3):c.823C>T (p.Arg275Trp)
|
rs200393998
|
0.00001
|
|
NM_138387.4(G6PC3):c.879G>A (p.Leu293=)
|
rs780718603
|
0.00001
|
|
NM_138387.4(G6PC3):c.887C>T (p.Pro296Leu)
|
rs779143230
|
0.00001
|
|
NM_138387.4(G6PC3):c.894C>T (p.Asp298=)
|
rs142944376
|
0.00001
|
|
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys)
|
rs750695182
|
0.00001
|
|
NM_138387.4(G6PC3):c.981C>T (p.Leu327=)
|
rs752964083
|
0.00001
|
|
NM_138387.4(G6PC3):c.982G>A (p.Val328Met)
|
rs1052762189
|
0.00001
|
|
NM_152564.5(VPS13B):c.*1037C>A
|
rs1246944981
|
0.00001
|
|
NM_152564.5(VPS13B):c.*1239C>T
|
rs1817725052
|
0.00001
|
|
NM_152564.5(VPS13B):c.*438C>T
|
rs1412435648
|
0.00001
|
|
NM_152564.5(VPS13B):c.*665T>C
|
rs1326591170
|
0.00001
|
|
NM_152564.5(VPS13B):c.10023A>G (p.Pro3341=)
|
rs767423737
|
0.00001
|
|
NM_152564.5(VPS13B):c.10042A>G (p.Ile3348Val)
|
rs777046028
|
0.00001
|
|
NM_152564.5(VPS13B):c.10047A>G (p.Leu3349=)
|
rs1816115503
|
0.00001
|
|
NM_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
|
NM_152564.5(VPS13B):c.10062-6C>T
|
rs745353782
|
0.00001
|
|
NM_152564.5(VPS13B):c.10064C>T (p.Ala3355Val)
|
rs199931583
|
0.00001
|
|
NM_152564.5(VPS13B):c.10076T>C (p.Ile3359Thr)
|
rs1036301212
|
0.00001
|
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
|
NM_152564.5(VPS13B):c.10100C>A (p.Thr3367Asn)
|
rs759636784
|
0.00001
|
|
NM_152564.5(VPS13B):c.10103A>G (p.Gln3368Arg)
|
rs377348581
|
0.00001
|
|
NM_152564.5(VPS13B):c.10115C>T (p.Ala3372Val)
|
rs753591072
|
0.00001
|
|
NM_152564.5(VPS13B):c.10116A>G (p.Ala3372=)
|
rs371573594
|
0.00001
|
|
NM_152564.5(VPS13B):c.10119G>A (p.Val3373=)
|
rs1159607522
|
0.00001
|
|
NM_152564.5(VPS13B):c.10132A>T (p.Thr3378Ser)
|
rs770379709
|
0.00001
|
|
NM_152564.5(VPS13B):c.10152T>G (p.Ala3384=)
|
rs374129601
|
0.00001
|
|
NM_152564.5(VPS13B):c.10199C>T (p.Pro3400Leu)
|
rs368041601
|
0.00001
|
|
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu)
|
rs779782582
|
0.00001
|
|
NM_152564.5(VPS13B):c.10221G>C (p.Gly3407=)
|
rs746473073
|
0.00001
|
|
NM_152564.5(VPS13B):c.10237G>T (p.Ala3413Ser)
|
rs79324124
|
0.00001
|
|
NM_152564.5(VPS13B):c.10238C>T (p.Ala3413Val)
|
rs930006569
|
0.00001
|
|
NM_152564.5(VPS13B):c.10255T>C (p.Cys3419Arg)
|
rs188030143
|
0.00001
|
|
NM_152564.5(VPS13B):c.10324G>A (p.Ala3442Thr)
|
rs1816408668
|
0.00001
|
|
NM_152564.5(VPS13B):c.10359C>A (p.Pro3453=)
|
rs1444426292
|
0.00001
|
|
NM_152564.5(VPS13B):c.10382G>C (p.Ser3461Thr)
|
rs1816412271
|
0.00001
|
|
NM_152564.5(VPS13B):c.10384C>T (p.Leu3462Phe)
|
rs761972356
|
0.00001
|
|
NM_152564.5(VPS13B):c.10410A>G (p.Glu3470=)
|
rs751254612
|
0.00001
|
|
NM_152564.5(VPS13B):c.10442G>T (p.Cys3481Phe)
|
rs1563509900
|
0.00001
|
|
NM_152564.5(VPS13B):c.10444A>G (p.Ile3482Val)
|
rs1196019519
|
0.00001
|
|
NM_152564.5(VPS13B):c.10468A>G (p.Ile3490Val)
|
rs398124325
|
0.00001
|
|
NM_152564.5(VPS13B):c.10470C>A (p.Ile3490=)
|
rs372875604
|
0.00001
|
|
NM_152564.5(VPS13B):c.10473C>G (p.Leu3491=)
|
rs1302374134
|
0.00001
|
|
NM_152564.5(VPS13B):c.10506A>G (p.Lys3502=)
|
rs1373791263
|
0.00001
|
|
NM_152564.5(VPS13B):c.10508C>A (p.Pro3503His)
|
rs773013716
|
0.00001
|
|
NM_152564.5(VPS13B):c.10513C>T (p.Arg3505Trp)
|
rs763017122
|
0.00001
|
|
NM_152564.5(VPS13B):c.10518A>T (p.Leu3506Phe)
|
rs759427770
|
0.00001
|
|
NM_152564.5(VPS13B):c.10539A>G (p.Val3513=)
|
rs753290639
|
0.00001
|
|
NM_152564.5(VPS13B):c.10540T>C (p.Tyr3514His)
|
rs1440017130
|
0.00001
|
|
NM_152564.5(VPS13B):c.10545C>T (p.Tyr3515=)
|
rs758842658
|
0.00001
|
|
NM_152564.5(VPS13B):c.10548C>A (p.Ile3516=)
|
rs780558517
|
0.00001
|
|
NM_152564.5(VPS13B):c.1066A>G (p.Ile356Val)
|
rs1020906206
|
0.00001
|
|
NM_152564.5(VPS13B):c.10681C>T (p.Arg3561Trp)
|
rs200232124
|
0.00001
|
|
NM_152564.5(VPS13B):c.10682G>A (p.Arg3561Gln)
|
rs549125520
|
0.00001
|
|
NM_152564.5(VPS13B):c.10699C>A (p.Pro3567Thr)
|
rs759972908
|
0.00001
|
|
NM_152564.5(VPS13B):c.10703T>C (p.Val3568Ala)
|
rs376964635
|
0.00001
|
|
NM_152564.5(VPS13B):c.10710G>T (p.Leu3570Phe)
|
rs753058180
|
0.00001
|
|
NM_152564.5(VPS13B):c.10719C>T (p.Ser3573=)
|
rs888814815
|
0.00001
|
|
NM_152564.5(VPS13B):c.10722C>G (p.Ile3574Met)
|
rs1303747895
|
0.00001
|
|
NM_152564.5(VPS13B):c.10764T>C (p.Pro3588=)
|
rs1477900241
|
0.00001
|
|
NM_152564.5(VPS13B):c.10776G>A (p.Ser3592=)
|
rs547516730
|
0.00001
|
|
NM_152564.5(VPS13B):c.1077T>C (p.Tyr359=)
|
rs541332942
|
0.00001
|
|
NM_152564.5(VPS13B):c.10795A>G (p.Ile3599Val)
|
rs1225418115
|
0.00001
|
|
NM_152564.5(VPS13B):c.10797C>T (p.Ile3599=)
|
rs769445328
|
0.00001
|
|
NM_152564.5(VPS13B):c.10825G>A (p.Ala3609Thr)
|
rs769606496
|
0.00001
|
|
NM_152564.5(VPS13B):c.10828C>T (p.Leu3610=)
|
rs1265301398
|
0.00001
|
|
NM_152564.5(VPS13B):c.10852G>A (p.Ala3618Thr)
|
rs373605057
|
0.00001
|
|
NM_152564.5(VPS13B):c.10857T>C (p.Leu3619=)
|
rs183080498
|
0.00001
|
|
NM_152564.5(VPS13B):c.10867+10C>T
|
rs1239193804
|
0.00001
|
|
NM_152564.5(VPS13B):c.10867+1G>A
|
rs780902262
|
0.00001
|
|
NM_152564.5(VPS13B):c.10867+7A>G
|
rs1378858300
|
0.00001
|
|
NM_152564.5(VPS13B):c.1087G>A (p.Glu363Lys)
|
rs116951775
|
0.00001
|
|
NM_152564.5(VPS13B):c.10881G>A (p.Gly3627=)
|
rs770336524
|
0.00001
|
|
NM_152564.5(VPS13B):c.10896T>C (p.Leu3632=)
|
rs774248863
|
0.00001
|
|
NM_152564.5(VPS13B):c.10924A>G (p.Ile3642Val)
|
rs148582416
|
0.00001
|
|
NM_152564.5(VPS13B):c.10926C>A (p.Ile3642=)
|
rs753373848
|
0.00001
|
|
NM_152564.5(VPS13B):c.10927G>A (p.Gly3643Arg)
|
rs778657622
|
0.00001
|
|
NM_152564.5(VPS13B):c.10933G>A (p.Gly3645Arg)
|
rs61754108
|
0.00001
|
|
NM_152564.5(VPS13B):c.10941C>T (p.Ala3647=)
|
rs781760595
|
0.00001
|
|
NM_152564.5(VPS13B):c.10950C>T (p.Phe3650=)
|
rs773394643
|
0.00001
|
|
NM_152564.5(VPS13B):c.10976G>A (p.Arg3659Gln)
|
rs370507425
|
0.00001
|
|
NM_152564.5(VPS13B):c.10978G>A (p.Gly3660Ser)
|
rs373947421
|
0.00001
|
|
NM_152564.5(VPS13B):c.1097T>C (p.Phe366Ser)
|
rs543010361
|
0.00001
|
|
NM_152564.5(VPS13B):c.11002G>A (p.Val3668Ile)
|
rs746534351
|
0.00001
|
|
NM_152564.5(VPS13B):c.11022G>A (p.Ser3674=)
|
rs375676564
|
0.00001
|
|
NM_152564.5(VPS13B):c.11030A>C (p.Lys3677Thr)
|
rs772287232
|
0.00001
|
|
NM_152564.5(VPS13B):c.11040C>T (p.Ser3680=)
|
rs199748413
|
0.00001
|
|
NM_152564.5(VPS13B):c.11044+20G>C
|
rs1444976203
|
0.00001
|
|
NM_152564.5(VPS13B):c.11044+6G>A
|
rs369477759
|
0.00001
|
|
NM_152564.5(VPS13B):c.11045-10G>T
|
rs769628992
|
0.00001
|
|
NM_152564.5(VPS13B):c.11045-6C>T
|
rs1250558576
|
0.00001
|
|
NM_152564.5(VPS13B):c.11046T>A (p.Gly3682=)
|
rs1178600682
|
0.00001
|
|
NM_152564.5(VPS13B):c.11059A>G (p.Ile3687Val)
|
rs1045389239
|
0.00001
|
|
NM_152564.5(VPS13B):c.11070C>T (p.Leu3690=)
|
rs185477101
|
0.00001
|
|
NM_152564.5(VPS13B):c.1107C>T (p.Asn369=)
|
rs777015545
|
0.00001
|
|
NM_152564.5(VPS13B):c.11087G>A (p.Arg3696Gln)
|
rs757726642
|
0.00001
|
|
NM_152564.5(VPS13B):c.1108G>C (p.Asp370His)
|
rs748531719
|
0.00001
|
|
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs)
|
rs386834059
|
0.00001
|
|
NM_152564.5(VPS13B):c.11131C>T (p.Gln3711Ter)
|
rs1451352816
|
0.00001
|
|
NM_152564.5(VPS13B):c.11143C>T (p.Arg3715Trp)
|
rs772640414
|
0.00001
|
|
NM_152564.5(VPS13B):c.11157C>T (p.Pro3719=)
|
rs774143549
|
0.00001
|
|
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln)
|
rs913075497
|
0.00001
|
|
NM_152564.5(VPS13B):c.1118C>T (p.Ser373Leu)
|
rs773391550
|
0.00001
|
|
NM_152564.5(VPS13B):c.11196G>T (p.Arg3732=)
|
rs1284354271
|
0.00001
|
|
NM_152564.5(VPS13B):c.11197C>A (p.Leu3733Met)
|
rs1318142770
|
0.00001
|
|
NM_152564.5(VPS13B):c.11202C>T (p.Gly3734=)
|
rs766658666
|
0.00001
|
|
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met)
|
rs1359351082
|
0.00001
|
|
NM_152564.5(VPS13B):c.11215+14G>C
|
rs777843630
|
0.00001
|
|
NM_152564.5(VPS13B):c.11215+8G>T
|
rs1285906381
|
0.00001
|
|
NM_152564.5(VPS13B):c.11216-1G>C
|
rs1057517441
|
0.00001
|
|
NM_152564.5(VPS13B):c.11223T>G (p.Ile3741Met)
|
rs267601674
|
0.00001
|
|
NM_152564.5(VPS13B):c.1127A>G (p.His376Arg)
|
rs1209759817
|
0.00001
|
|
NM_152564.5(VPS13B):c.11305G>A (p.Val3769Ile)
|
rs1375551293
|
0.00001
|
|
NM_152564.5(VPS13B):c.11317G>A (p.Val3773Met)
|
rs145970185
|
0.00001
|
|
NM_152564.5(VPS13B):c.11355C>T (p.Ile3785=)
|
rs865965849
|
0.00001
|
|
NM_152564.5(VPS13B):c.11364del (p.Ala3789fs)
|
rs1485428182
|
0.00001
|
|
NM_152564.5(VPS13B):c.1137A>G (p.Lys379=)
|
rs1847925535
|
0.00001
|
|
NM_152564.5(VPS13B):c.11381A>G (p.Gln3794Arg)
|
rs1172665875
|
0.00001
|
|
NM_152564.5(VPS13B):c.11393-9T>C
|
rs1370103041
|
0.00001
|
|
NM_152564.5(VPS13B):c.11398T>C (p.Leu3800=)
|
rs1817365435
|
0.00001
|
|
NM_152564.5(VPS13B):c.1141C>T (p.Gln381Ter)
|
rs774376104
|
0.00001
|
|
NM_152564.5(VPS13B):c.11435G>A (p.Arg3812His)
|
rs529932207
|
0.00001
|
|
NM_152564.5(VPS13B):c.11442G>A (p.Gln3814=)
|
rs1249346975
|
0.00001
|
|
NM_152564.5(VPS13B):c.11457T>C (p.His3819=)
|
rs763130797
|
0.00001
|
|
NM_152564.5(VPS13B):c.11471C>T (p.Pro3824Leu)
|
rs75996587
|
0.00001
|
|
NM_152564.5(VPS13B):c.11489A>G (p.Tyr3830Cys)
|
rs1354835040
|
0.00001
|
|
NM_152564.5(VPS13B):c.11491G>A (p.Val3831Ile)
|
rs752506829
|
0.00001
|
|
NM_152564.5(VPS13B):c.11493C>T (p.Val3831=)
|
rs1406602437
|
0.00001
|
|
NM_152564.5(VPS13B):c.11495+7_11495+8del
|
rs1588810879
|
0.00001
|
|
NM_152564.5(VPS13B):c.114C>T (p.Ser38=)
|
rs768496696
|
0.00001
|
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
|
NM_152564.5(VPS13B):c.11518A>C (p.Arg3840=)
|
rs1343441630
|
0.00001
|
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
|
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=)
|
rs572479795
|
0.00001
|
|
NM_152564.5(VPS13B):c.11545G>A (p.Val3849Met)
|
rs781773703
|
0.00001
|
|
NM_152564.5(VPS13B):c.11577T>C (p.His3859=)
|
rs771158927
|
0.00001
|
|
NM_152564.5(VPS13B):c.11622T>C (p.Ser3874=)
|
rs1429011710
|
0.00001
|
|
NM_152564.5(VPS13B):c.11623G>A (p.Val3875Ile)
|
rs765012695
|
0.00001
|
|
NM_152564.5(VPS13B):c.11649C>G (p.Ala3883=)
|
rs781535467
|
0.00001
|
|
NM_152564.5(VPS13B):c.11653C>T (p.Pro3885Ser)
|
rs1272962312
|
0.00001
|
|
NM_152564.5(VPS13B):c.11655C>T (p.Pro3885=)
|
rs368092348
|
0.00001
|
|
NM_152564.5(VPS13B):c.11667C>T (p.Ile3889=)
|
rs749637946
|
0.00001
|
|
NM_152564.5(VPS13B):c.11690A>G (p.Gln3897Arg)
|
rs745928856
|
0.00001
|
|
NM_152564.5(VPS13B):c.11706A>G (p.Thr3902=)
|
rs532340798
|
0.00001
|
|
NM_152564.5(VPS13B):c.11718G>A (p.Lys3906=)
|
rs764961174
|
0.00001
|
|
NM_152564.5(VPS13B):c.11732C>T (p.Ala3911Val)
|
rs978197543
|
0.00001
|
|
NM_152564.5(VPS13B):c.11745+4C>T
|
rs751045565
|
0.00001
|
|
NM_152564.5(VPS13B):c.11746-11T>C
|
rs947865858
|
0.00001
|
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
|
NM_152564.5(VPS13B):c.11802C>T (p.Tyr3934=)
|
rs1302197053
|
0.00001
|
|
NM_152564.5(VPS13B):c.11811G>A (p.Lys3937=)
|
rs1195954184
|
0.00001
|
|
NM_152564.5(VPS13B):c.11874A>G (p.Ala3958=)
|
rs1400113189
|
0.00001
|
|
NM_152564.5(VPS13B):c.11904C>T (p.Tyr3968=)
|
rs1817662607
|
0.00001
|
|
NM_152564.5(VPS13B):c.11906A>C (p.His3969Pro)
|
rs902783600
|
0.00001
|
|
NM_152564.5(VPS13B):c.11949A>G (p.Lys3983=)
|
rs745447477
|
0.00001
|
|
NM_152564.5(VPS13B):c.11993G>A (p.Ter3998=)
|
rs773765592
|
0.00001
|
|
NM_152564.5(VPS13B):c.1206+6T>A
|
rs778709502
|
0.00001
|
|
NM_152564.5(VPS13B):c.1206A>G (p.Lys402=)
|
rs1847928125
|
0.00001
|
|
NM_152564.5(VPS13B):c.1207-10T>C
|
rs1293563176
|
0.00001
|
|
NM_152564.5(VPS13B):c.1221A>C (p.Gln407His)
|
rs1269344604
|
0.00001
|
|
NM_152564.5(VPS13B):c.1302+14A>G
|
rs750969500
|
0.00001
|
|
NM_152564.5(VPS13B):c.1302+2dup
|
rs766708621
|
0.00001
|
|
NM_152564.5(VPS13B):c.1303-15C>T
|
rs768921663
|
0.00001
|
|
NM_152564.5(VPS13B):c.1344G>T (p.Gly448=)
|
rs1395837319
|
0.00001
|
|
NM_152564.5(VPS13B):c.1382T>C (p.Met461Thr)
|
rs754324907
|
0.00001
|
|
NM_152564.5(VPS13B):c.1391A>C (p.Lys464Thr)
|
rs1431957435
|
0.00001
|
|
NM_152564.5(VPS13B):c.1425+14C>T
|
rs1336315374
|
0.00001
|
|
NM_152564.5(VPS13B):c.1429G>T (p.Ala477Ser)
|
rs1272904056
|
0.00001
|
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
|
NM_152564.5(VPS13B):c.147+3A>G
|
rs772550162
|
0.00001
|
|
NM_152564.5(VPS13B):c.148-10G>A
|
rs779842255
|
0.00001
|
|
NM_152564.5(VPS13B):c.149A>C (p.Glu50Ala)
|
rs1432079296
|
0.00001
|
|
NM_152564.5(VPS13B):c.1553C>T (p.Thr518Ile)
|
rs751932917
|
0.00001
|
|
NM_152564.5(VPS13B):c.1563+10T>C
|
rs777964709
|
0.00001
|
|
NM_152564.5(VPS13B):c.1563+7G>C
|
rs1185654925
|
0.00001
|
|
NM_152564.5(VPS13B):c.1564-3C>T
|
rs753911390
|
0.00001
|
|
NM_152564.5(VPS13B):c.1567A>G (p.Thr523Ala)
|
rs146659631
|
0.00001
|
|
NM_152564.5(VPS13B):c.1586G>A (p.Gly529Glu)
|
rs750429731
|
0.00001
|
|
NM_152564.5(VPS13B):c.1593A>G (p.Gln531=)
|
rs1435002712
|
0.00001
|
|
NM_152564.5(VPS13B):c.1602G>T (p.Gly534=)
|
rs1266552493
|
0.00001
|
|
NM_152564.5(VPS13B):c.1603G>A (p.Ala535Thr)
|
rs1350243430
|
0.00001
|
|
NM_152564.5(VPS13B):c.1612A>G (p.Met538Val)
|
rs1478296228
|
0.00001
|
|
NM_152564.5(VPS13B):c.1615G>A (p.Asp539Asn)
|
rs774992590
|
0.00001
|
|
NM_152564.5(VPS13B):c.1623G>C (p.Leu541=)
|
rs1193051483
|
0.00001
|
|
NM_152564.5(VPS13B):c.1629A>G (p.Thr543=)
|
rs760975110
|
0.00001
|
|
NM_152564.5(VPS13B):c.162A>G (p.Pro54=)
|
rs747961838
|
0.00001
|
|
NM_152564.5(VPS13B):c.1642A>G (p.Ser548Gly)
|
rs1372588907
|
0.00001
|
|
NM_152564.5(VPS13B):c.1646G>A (p.Gly549Asp)
|
rs886062536
|
0.00001
|
|
NM_152564.5(VPS13B):c.1668A>T (p.Gln556His)
|
rs756072319
|
0.00001
|
|
NM_152564.5(VPS13B):c.1696T>C (p.Leu566=)
|
rs767273023
|
0.00001
|
|
NM_152564.5(VPS13B):c.1753C>T (p.Arg585Cys)
|
rs769956475
|
0.00001
|
|
NM_152564.5(VPS13B):c.1771G>A (p.Val591Met)
|
rs372593334
|
0.00001
|
|
NM_152564.5(VPS13B):c.1772T>C (p.Val591Ala)
|
rs753616467
|
0.00001
|
|
NM_152564.5(VPS13B):c.1779G>A (p.Arg593=)
|
rs1810520439
|
0.00001
|
|
NM_152564.5(VPS13B):c.1887G>A (p.Val629=)
|
rs138291421
|
0.00001
|
|
NM_152564.5(VPS13B):c.1907T>G (p.Ile636Ser)
|
rs1209495278
|
0.00001
|
|
NM_152564.5(VPS13B):c.1921A>G (p.Thr641Ala)
|
rs891182271
|
0.00001
|
|
NM_152564.5(VPS13B):c.1924A>G (p.Ser642Gly)
|
rs1294611505
|
0.00001
|
|
NM_152564.5(VPS13B):c.1953A>G (p.Thr651=)
|
rs756544361
|
0.00001
|
|
NM_152564.5(VPS13B):c.1954A>C (p.Ile652Leu)
|
rs886062537
|
0.00001
|
|
NM_152564.5(VPS13B):c.1956T>G (p.Ile652Met)
|
rs904064642
|
0.00001
|
|
NM_152564.5(VPS13B):c.1960A>G (p.Met654Val)
|
rs1408089043
|
0.00001
|
|
NM_152564.5(VPS13B):c.19A>T (p.Thr7Ser)
|
rs1413120643
|
0.00001
|
|
NM_152564.5(VPS13B):c.2013+17G>A
|
rs1161780601
|
0.00001
|
|
NM_152564.5(VPS13B):c.2014-19G>A
|
rs945362630
|
0.00001
|
|
NM_152564.5(VPS13B):c.2014-20C>T
|
rs765582455
|
0.00001
|
|
NM_152564.5(VPS13B):c.2037T>C (p.Thr679=)
|
rs1275629837
|
0.00001
|
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
|
NM_152564.5(VPS13B):c.2077A>C (p.Ile693Leu)
|
rs1228929542
|
0.00001
|
|
NM_152564.5(VPS13B):c.207A>T (p.Val69=)
|
rs772922484
|
0.00001
|
|
NM_152564.5(VPS13B):c.2109A>C (p.Ser703=)
|
rs1269866492
|
0.00001
|
|
NM_152564.5(VPS13B):c.2116A>G (p.Met706Val)
|
rs751897986
|
0.00001
|
|
NM_152564.5(VPS13B):c.2160A>G (p.Gln720=)
|
rs1272445028
|
0.00001
|
|
NM_152564.5(VPS13B):c.2175G>A (p.Leu725=)
|
rs1211430808
|
0.00001
|
|
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg)
|
rs1436936380
|
0.00001
|
|
NM_152564.5(VPS13B):c.2208+14A>G
|
rs745575182
|
0.00001
|
|
NM_152564.5(VPS13B):c.2208+20T>C
|
rs1396217310
|
0.00001
|
|
NM_152564.5(VPS13B):c.2209-8T>C
|
rs1426142075
|
0.00001
|
|
NM_152564.5(VPS13B):c.2244T>C (p.Asp748=)
|
rs146450992
|
0.00001
|
|
NM_152564.5(VPS13B):c.2333+10A>G
|
rs933132905
|
0.00001
|
|
NM_152564.5(VPS13B):c.2333+20A>G
|
rs758171682
|
0.00001
|
|
NM_152564.5(VPS13B):c.2333+5G>A
|
rs369096824
|
0.00001
|
|
NM_152564.5(VPS13B):c.2334-13T>G
|
rs768924726
|
0.00001
|
|
NM_152564.5(VPS13B):c.2348A>G (p.Gln783Arg)
|
rs765133430
|
0.00001
|
|
NM_152564.5(VPS13B):c.234A>G (p.Pro78=)
|
rs372597619
|
0.00001
|
|
NM_152564.5(VPS13B):c.2434T>C (p.Tyr812His)
|
rs1258984174
|
0.00001
|
|
NM_152564.5(VPS13B):c.2445G>T (p.Trp815Cys)
|
rs1452649119
|
0.00001
|
|
NM_152564.5(VPS13B):c.2464A>C (p.Ser822Arg)
|
rs1208376209
|
0.00001
|
|
NM_152564.5(VPS13B):c.2475A>G (p.Ala825=)
|
rs1334203745
|
0.00001
|
|
NM_152564.5(VPS13B):c.2516-5A>T
|
rs756282496
|
0.00001
|
|
NM_152564.5(VPS13B):c.2535C>T (p.Pro845=)
|
rs1241992024
|
0.00001
|
|
NM_152564.5(VPS13B):c.2536C>T (p.Leu846=)
|
rs934545731
|
0.00001
|
|
NM_152564.5(VPS13B):c.2539C>A (p.Pro847Thr)
|
rs774142530
|
0.00001
|
|
NM_152564.5(VPS13B):c.2552G>A (p.Gly851Asp)
|
rs1251819735
|
0.00001
|
|
NM_152564.5(VPS13B):c.2561A>G (p.Gln854Arg)
|
rs936610679
|
0.00001
|
|
NM_152564.5(VPS13B):c.2605G>A (p.Ala869Thr)
|
rs371800257
|
0.00001
|
|
NM_152564.5(VPS13B):c.2618T>C (p.Met873Thr)
|
rs112259211
|
0.00001
|
|
NM_152564.5(VPS13B):c.2626A>G (p.Ile876Val)
|
rs772082436
|
0.00001
|
|
NM_152564.5(VPS13B):c.2646C>G (p.Ala882=)
|
rs369124790
|
0.00001
|
|
NM_152564.5(VPS13B):c.2651-10T>G
|
rs398124330
|
0.00001
|
|
NM_152564.5(VPS13B):c.2685T>A (p.Leu895=)
|
rs762130581
|
0.00001
|
|
NM_152564.5(VPS13B):c.2700C>T (p.Asp900=)
|
rs765522219
|
0.00001
|
|
NM_152564.5(VPS13B):c.2733T>C (p.Asn911=)
|
rs1818828803
|
0.00001
|
|
NM_152564.5(VPS13B):c.2751G>A (p.Glu917=)
|
rs192509060
|
0.00001
|
|
NM_152564.5(VPS13B):c.2764C>T (p.Pro922Ser)
|
rs371120818
|
0.00001
|
|
NM_152564.5(VPS13B):c.2765C>T (p.Pro922Leu)
|
rs1378379268
|
0.00001
|
|
NM_152564.5(VPS13B):c.2785A>G (p.Ile929Val)
|
rs1222718209
|
0.00001
|
|
NM_152564.5(VPS13B):c.2788C>A (p.Gln930Lys)
|
rs372949456
|
0.00001
|
|
NM_152564.5(VPS13B):c.2797C>G (p.Gln933Glu)
|
rs773412105
|
0.00001
|
|
NM_152564.5(VPS13B):c.2817C>A (p.His939Gln)
|
rs773717018
|
0.00001
|
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
|
NM_152564.5(VPS13B):c.2843G>C (p.Ser948Thr)
|
rs749988222
|
0.00001
|
|
NM_152564.5(VPS13B):c.2853A>C (p.Gly951=)
|
rs374898875
|
0.00001
|
|
NM_152564.5(VPS13B):c.2879T>C (p.Leu960Ser)
|
rs775378782
|
0.00001
|
|
NM_152564.5(VPS13B):c.2880A>G (p.Leu960=)
|
rs760792770
|
0.00001
|
|
NM_152564.5(VPS13B):c.2881T>C (p.Tyr961His)
|
rs1563700103
|
0.00001
|
|
NM_152564.5(VPS13B):c.2886G>A (p.Thr962=)
|
rs753837683
|
0.00001
|
|
NM_152564.5(VPS13B):c.288A>T (p.Ile96=)
|
rs1842840884
|
0.00001
|
|
NM_152564.5(VPS13B):c.2897A>G (p.Tyr966Cys)
|
rs779809192
|
0.00001
|
|
NM_152564.5(VPS13B):c.2906A>G (p.Gln969Arg)
|
rs398124332
|
0.00001
|
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
|
NM_152564.5(VPS13B):c.2912G>A (p.Arg971Gln)
|
rs778413172
|
0.00001
|
|
NM_152564.5(VPS13B):c.2921G>C (p.Arg974Thr)
|
rs763519651
|
0.00001
|
|
NM_152564.5(VPS13B):c.2924A>G (p.His975Arg)
|
rs376049764
|
0.00001
|
|
NM_152564.5(VPS13B):c.2934G>A (p.Gln978=)
|
rs772161131
|
0.00001
|
|
NM_152564.5(VPS13B):c.2935-12G>T
|
rs1394216324
|
0.00001
|
|
NM_152564.5(VPS13B):c.2956C>T (p.Leu986Phe)
|
rs1262733224
|
0.00001
|
|
NM_152564.5(VPS13B):c.297C>T (p.Asp99=)
|
rs1295312029
|
0.00001
|
|
NM_152564.5(VPS13B):c.2995T>C (p.Ser999Pro)
|
rs1429325415
|
0.00001
|
|
NM_152564.5(VPS13B):c.3000T>G (p.Ile1000Met)
|
rs1465563233
|
0.00001
|
|
NM_152564.5(VPS13B):c.3022C>T (p.Gln1008Ter)
|
rs567092790
|
0.00001
|
|
NM_152564.5(VPS13B):c.3030A>G (p.Ser1010=)
|
rs749186173
|
0.00001
|
|
NM_152564.5(VPS13B):c.3031T>C (p.Tyr1011His)
|
rs771021187
|
0.00001
|
|
NM_152564.5(VPS13B):c.3039C>G (p.Ala1013=)
|
rs1369894896
|
0.00001
|
|
NM_152564.5(VPS13B):c.3051C>T (p.Ala1017=)
|
rs1296198571
|
0.00001
|
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
|
NM_152564.5(VPS13B):c.3084A>G (p.Glu1028=)
|
rs150505597
|
0.00001
|
|
NM_152564.5(VPS13B):c.3113C>T (p.Ala1038Val)
|
rs1169113054
|
0.00001
|
|
NM_152564.5(VPS13B):c.318T>C (p.Asn106=)
|
rs1846415935
|
0.00001
|
|
NM_152564.5(VPS13B):c.3210+11A>T
|
rs191511518
|
0.00001
|
|
NM_152564.5(VPS13B):c.3211-16T>A
|
rs1439444815
|
0.00001
|
|
NM_152564.5(VPS13B):c.3234G>A (p.Val1078=)
|
rs1339519603
|
0.00001
|
|
NM_152564.5(VPS13B):c.3255G>A (p.Leu1085=)
|
rs371674854
|
0.00001
|
|
NM_152564.5(VPS13B):c.3270A>G (p.Thr1090=)
|
rs1307720386
|
0.00001
|
|
NM_152564.5(VPS13B):c.3271A>G (p.Ile1091Val)
|
rs780930460
|
0.00001
|
|
NM_152564.5(VPS13B):c.328C>T (p.Arg110Cys)
|
rs368290618
|
0.00001
|
|
NM_152564.5(VPS13B):c.3305G>A (p.Ser1102Asn)
|
rs778498211
|
0.00001
|
|
NM_152564.5(VPS13B):c.3310T>A (p.Tyr1104Asn)
|
rs1251521388
|
0.00001
|
|
NM_152564.5(VPS13B):c.3333G>A (p.Pro1111=)
|
rs367791771
|
0.00001
|
|
NM_152564.5(VPS13B):c.3335G>A (p.Gly1112Glu)
|
rs1463093451
|
0.00001
|
|
NM_152564.5(VPS13B):c.3381G>A (p.Gly1127=)
|
rs753370533
|
0.00001
|
|
NM_152564.5(VPS13B):c.3391A>G (p.Met1131Val)
|
rs769263049
|
0.00001
|
|
NM_152564.5(VPS13B):c.339T>G (p.Ala113=)
|
rs200619753
|
0.00001
|
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
|
NM_152564.5(VPS13B):c.3441A>G (p.Glu1147=)
|
rs767433370
|
0.00001
|
|
NM_152564.5(VPS13B):c.3453T>C (p.Ala1151=)
|
rs1014978049
|
0.00001
|
|
NM_152564.5(VPS13B):c.3464C>T (p.Thr1155Met)
|
rs758040462
|
0.00001
|
|
NM_152564.5(VPS13B):c.3465G>A (p.Thr1155=)
|
rs779726673
|
0.00001
|
|
NM_152564.5(VPS13B):c.3470G>T (p.Ser1157Ile)
|
rs748600714
|
0.00001
|
|
NM_152564.5(VPS13B):c.3494C>A (p.Thr1165Asn)
|
rs777953652
|
0.00001
|
|
NM_152564.5(VPS13B):c.3503G>A (p.Gly1168Glu)
|
rs1819169224
|
0.00001
|
|
NM_152564.5(VPS13B):c.3522C>T (p.Cys1174=)
|
rs772078846
|
0.00001
|
|
NM_152564.5(VPS13B):c.3523C>T (p.Leu1175=)
|
rs775549294
|
0.00001
|
|
NM_152564.5(VPS13B):c.3553C>T (p.Leu1185=)
|
rs761707088
|
0.00001
|
|
NM_152564.5(VPS13B):c.3570A>G (p.Gln1190=)
|
rs1489420306
|
0.00001
|
|
NM_152564.5(VPS13B):c.3583A>G (p.Thr1195Ala)
|
rs1027684992
|
0.00001
|
|
NM_152564.5(VPS13B):c.3594T>C (p.Asp1198=)
|
rs779156454
|
0.00001
|
|
NM_152564.5(VPS13B):c.359T>A (p.Ile120Asn)
|
rs763259028
|
0.00001
|
|
NM_152564.5(VPS13B):c.3615C>T (p.Val1205=)
|
rs761670389
|
0.00001
|
|
NM_152564.5(VPS13B):c.3641T>A (p.Leu1214Gln)
|
rs1279523650
|
0.00001
|
|
NM_152564.5(VPS13B):c.3662C>A (p.Pro1221His)
|
rs757707584
|
0.00001
|
|
NM_152564.5(VPS13B):c.3667G>A (p.Val1223Ile)
|
rs1820042425
|
0.00001
|
|
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=)
|
rs751715193
|
0.00001
|
|
NM_152564.5(VPS13B):c.3706G>A (p.Val1236Ile)
|
rs769743278
|
0.00001
|
|
NM_152564.5(VPS13B):c.3755C>T (p.Ser1252Phe)
|
rs763456297
|
0.00001
|
|
NM_152564.5(VPS13B):c.3762G>C (p.Glu1254Asp)
|
rs751944327
|
0.00001
|
|
NM_152564.5(VPS13B):c.3769G>C (p.Ala1257Pro)
|
rs1437011084
|
0.00001
|
|
NM_152564.5(VPS13B):c.378G>A (p.Gln126=)
|
rs1281161057
|
0.00001
|
|
NM_152564.5(VPS13B):c.3805A>G (p.Ile1269Val)
|
rs778799166
|
0.00001
|
|
NM_152564.5(VPS13B):c.3807A>C (p.Ile1269=)
|
rs745698032
|
0.00001
|
|
NM_152564.5(VPS13B):c.3827C>T (p.Thr1276Ile)
|
rs567003932
|
0.00001
|
|
NM_152564.5(VPS13B):c.3836G>A (p.Cys1279Tyr)
|
rs747109984
|
0.00001
|
|
NM_152564.5(VPS13B):c.3839G>A (p.Ser1280Asn)
|
rs1441125749
|
0.00001
|
|
NM_152564.5(VPS13B):c.3853A>G (p.Ile1285Val)
|
rs759888573
|
0.00001
|
|
NM_152564.5(VPS13B):c.3870+5G>A
|
rs1183330877
|
0.00001
|
|
NM_152564.5(VPS13B):c.3889G>A (p.Gly1297Ser)
|
rs762049347
|
0.00001
|
|
NM_152564.5(VPS13B):c.3901C>T (p.Pro1301Ser)
|
rs1326406012
|
0.00001
|
|
NM_152564.5(VPS13B):c.3909A>T (p.Ser1303=)
|
rs779666289
|
0.00001
|
|
NM_152564.5(VPS13B):c.3948A>G (p.Gly1316=)
|
rs975356010
|
0.00001
|
|
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter)
|
rs1156390688
|
0.00001
|
|
NM_152564.5(VPS13B):c.4020A>G (p.Pro1340=)
|
rs1821247586
|
0.00001
|
|
NM_152564.5(VPS13B):c.4038C>G (p.Gly1346=)
|
rs1821248178
|
0.00001
|
|
NM_152564.5(VPS13B):c.4042+7G>T
|
rs772651692
|
0.00001
|
|
NM_152564.5(VPS13B):c.4051A>T (p.Met1351Leu)
|
rs1821315813
|
0.00001
|
|
NM_152564.5(VPS13B):c.4058G>A (p.Ser1353Asn)
|
rs1160697460
|
0.00001
|
|
NM_152564.5(VPS13B):c.406C>T (p.Pro136Ser)
|
rs757950339
|
0.00001
|
|
NM_152564.5(VPS13B):c.4101A>T (p.Val1367=)
|
rs1159683768
|
0.00001
|
|
NM_152564.5(VPS13B):c.4132T>G (p.Phe1378Val)
|
rs773134117
|
0.00001
|
|
NM_152564.5(VPS13B):c.4140T>A (p.Ile1380=)
|
rs763157781
|
0.00001
|
|
NM_152564.5(VPS13B):c.416A>T (p.Tyr139Phe)
|
rs1226944454
|
0.00001
|
|
NM_152564.5(VPS13B):c.4224+684T>G
|
rs779176548
|
0.00001
|
|
NM_152564.5(VPS13B):c.4224+6A>G
|
rs1173901763
|
0.00001
|
|
NM_152564.5(VPS13B):c.4224+707C>G
|
rs1821585422
|
0.00001
|
|
NM_152564.5(VPS13B):c.4231A>G (p.Thr1411Ala)
|
rs1462190245
|
0.00001
|
|
NM_152564.5(VPS13B):c.4260G>A (p.Gln1420=)
|
rs376118865
|
0.00001
|
|
NM_152564.5(VPS13B):c.4266A>G (p.Gly1422=)
|
rs1317212158
|
0.00001
|
|
NM_152564.5(VPS13B):c.4270C>T (p.Leu1424Phe)
|
rs1821771268
|
0.00001
|
|
NM_152564.5(VPS13B):c.4286C>A (p.Thr1429Lys)
|
rs1232811849
|
0.00001
|
|
NM_152564.5(VPS13B):c.4308C>T (p.Val1436=)
|
rs762315814
|
0.00001
|
|
NM_152564.5(VPS13B):c.4310G>A (p.Arg1437His)
|
rs750810791
|
0.00001
|
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
|
NM_152564.5(VPS13B):c.4349A>G (p.His1450Arg)
|
rs773937982
|
0.00001
|
|
NM_152564.5(VPS13B):c.4357T>C (p.Ser1453Pro)
|
rs771420728
|
0.00001
|
|
NM_152564.5(VPS13B):c.4379C>T (p.Ser1460Phe)
|
rs763285164
|
0.00001
|
|
NM_152564.5(VPS13B):c.4386T>C (p.His1462=)
|
rs1821775372
|
0.00001
|
|
NM_152564.5(VPS13B):c.4416A>T (p.Gln1472His)
|
rs1821776501
|
0.00001
|
|
NM_152564.5(VPS13B):c.4424A>G (p.Asp1475Gly)
|
rs751663330
|
0.00001
|
|
NM_152564.5(VPS13B):c.4451A>T (p.Asn1484Ile)
|
rs1457753544
|
0.00001
|
|
NM_152564.5(VPS13B):c.4456A>G (p.Ile1486Val)
|
rs370519991
|
0.00001
|
|
NM_152564.5(VPS13B):c.4517G>A (p.Gly1506Asp)
|
rs140797231
|
0.00001
|
|
NM_152564.5(VPS13B):c.4518T>C (p.Gly1506=)
|
rs1821779613
|
0.00001
|
|
NM_152564.5(VPS13B):c.4521G>A (p.Gln1507=)
|
rs779519268
|
0.00001
|
|
NM_152564.5(VPS13B):c.4545A>T (p.Thr1515=)
|
rs763518845
|
0.00001
|
|
NM_152564.5(VPS13B):c.4582G>C (p.Val1528Leu)
|
rs757253779
|
0.00001
|
|
NM_152564.5(VPS13B):c.4589G>A (p.Arg1530Lys)
|
rs1234827991
|
0.00001
|
|
NM_152564.5(VPS13B):c.4633+14A>G
|
rs763556763
|
0.00001
|
|
NM_152564.5(VPS13B):c.4633+17T>C
|
rs941869950
|
0.00001
|
|
NM_152564.5(VPS13B):c.4645G>A (p.Ala1549Thr)
|
rs750053756
|
0.00001
|
|
NM_152564.5(VPS13B):c.4653A>G (p.Glu1551=)
|
rs368552225
|
0.00001
|
|
NM_152564.5(VPS13B):c.4668G>A (p.Leu1556=)
|
rs1322804531
|
0.00001
|
|
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn)
|
rs138417551
|
0.00001
|
|
NM_152564.5(VPS13B):c.4711C>T (p.Leu1571Phe)
|
rs1481675275
|
0.00001
|
|
NM_152564.5(VPS13B):c.4735G>T (p.Asp1579Tyr)
|
rs142708735
|
0.00001
|
|
NM_152564.5(VPS13B):c.4745+1G>A
|
rs1469729130
|
0.00001
|
|
NM_152564.5(VPS13B):c.4746-1G>C
|
rs768342041
|
0.00001
|
|
NM_152564.5(VPS13B):c.4763G>T (p.Gly1588Val)
|
rs760057249
|
0.00001
|
|
NM_152564.5(VPS13B):c.4777C>A (p.Pro1593Thr)
|
rs954564707
|
0.00001
|
|
NM_152564.5(VPS13B):c.4792G>A (p.Glu1598Lys)
|
rs1169963451
|
0.00001
|
|
NM_152564.5(VPS13B):c.4812A>G (p.Ile1604Met)
|
rs1824574633
|
0.00001
|
|
NM_152564.5(VPS13B):c.4833T>C (p.Ile1611=)
|
rs1380489766
|
0.00001
|
|
NM_152564.5(VPS13B):c.4841C>A (p.Ala1614Glu)
|
rs1002672196
|
0.00001
|
|
NM_152564.5(VPS13B):c.4870G>C (p.Glu1624Gln)
|
rs1257281144
|
0.00001
|
|
NM_152564.5(VPS13B):c.4888G>T (p.Val1630Leu)
|
rs1824580005
|
0.00001
|
|
NM_152564.5(VPS13B):c.4889T>C (p.Val1630Ala)
|
rs769608908
|
0.00001
|
|
NM_152564.5(VPS13B):c.4902T>C (p.Thr1634=)
|
rs1420456509
|
0.00001
|
|
NM_152564.5(VPS13B):c.4932G>A (p.Glu1644=)
|
rs775791528
|
0.00001
|
|
NM_152564.5(VPS13B):c.4949+2T>C
|
rs761273297
|
0.00001
|
|
NM_152564.5(VPS13B):c.4950-10dup
|
rs761293145
|
0.00001
|
|
NM_152564.5(VPS13B):c.498T>G (p.Asp166Glu)
|
rs776596431
|
0.00001
|
|
NM_152564.5(VPS13B):c.4990G>A (p.Val1664Ile)
|
rs770669224
|
0.00001
|
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
|
NM_152564.5(VPS13B):c.5017A>G (p.Thr1673Ala)
|
rs1224933519
|
0.00001
|
|
NM_152564.5(VPS13B):c.501C>T (p.Ile167=)
|
rs765288271
|
0.00001
|
|
NM_152564.5(VPS13B):c.5088G>A (p.Val1696=)
|
rs1201956279
|
0.00001
|
|
NM_152564.5(VPS13B):c.5123A>C (p.Asn1708Thr)
|
rs200878381
|
0.00001
|
|
NM_152564.5(VPS13B):c.5130C>G (p.Asp1710Glu)
|
rs572732952
|
0.00001
|
|
NM_152564.5(VPS13B):c.5137C>G (p.Leu1713Val)
|
rs187596259
|
0.00001
|
|
NM_152564.5(VPS13B):c.513C>T (p.Val171=)
|
rs1846845460
|
0.00001
|
|
NM_152564.5(VPS13B):c.5156A>G (p.Gln1719Arg)
|
rs772461225
|
0.00001
|
|
NM_152564.5(VPS13B):c.5157A>G (p.Gln1719=)
|
rs1349630576
|
0.00001
|
|
NM_152564.5(VPS13B):c.5178A>G (p.Val1726=)
|
rs761688743
|
0.00001
|
|
NM_152564.5(VPS13B):c.5196G>A (p.Leu1732=)
|
rs750269923
|
0.00001
|
|
NM_152564.5(VPS13B):c.5206A>G (p.Asn1736Asp)
|
rs976129659
|
0.00001
|
|
NM_152564.5(VPS13B):c.5220+10A>C
|
rs1221192419
|
0.00001
|
|
NM_152564.5(VPS13B):c.5220+8T>C
|
rs78899648
|
0.00001
|
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
|
NM_152564.5(VPS13B):c.5221-5T>C
|
rs761788793
|
0.00001
|
|
NM_152564.5(VPS13B):c.5248G>A (p.Asp1750Asn)
|
rs1241714095
|
0.00001
|
|
NM_152564.5(VPS13B):c.5249A>G (p.Asp1750Gly)
|
rs767031340
|
0.00001
|
|
NM_152564.5(VPS13B):c.5251A>G (p.Ile1751Val)
|
rs757833793
|
0.00001
|
|
NM_152564.5(VPS13B):c.5269G>A (p.Ala1757Thr)
|
rs146540735
|
0.00001
|
|
NM_152564.5(VPS13B):c.5355G>A (p.Gln1785=)
|
rs1172785221
|
0.00001
|
|
NM_152564.5(VPS13B):c.5377C>T (p.Arg1793Cys)
|
rs760207080
|
0.00001
|
|
NM_152564.5(VPS13B):c.5385C>T (p.Ala1795=)
|
rs371961319
|
0.00001
|
|
NM_152564.5(VPS13B):c.5422A>C (p.Asn1808His)
|
rs891967669
|
0.00001
|
|
NM_152564.5(VPS13B):c.5466A>G (p.Ser1822=)
|
rs770813780
|
0.00001
|
|
NM_152564.5(VPS13B):c.5469A>G (p.Leu1823=)
|
rs774190999
|
0.00001
|
|
NM_152564.5(VPS13B):c.5472G>A (p.Met1824Ile)
|
rs771916272
|
0.00001
|
|
NM_152564.5(VPS13B):c.5478T>C (p.Tyr1826=)
|
rs1300751748
|
0.00001
|
|
NM_152564.5(VPS13B):c.5484T>C (p.Cys1828=)
|
rs1177742095
|
0.00001
|
|
NM_152564.5(VPS13B):c.5511A>G (p.Gln1837=)
|
rs767953687
|
0.00001
|
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
|
NM_152564.5(VPS13B):c.5539_5540del (p.Lys1847fs)
|
rs1829394659
|
0.00001
|
|
NM_152564.5(VPS13B):c.5541G>A (p.Lys1847=)
|
rs771725660
|
0.00001
|
|
NM_152564.5(VPS13B):c.5556C>T (p.Leu1852=)
|
rs1379522761
|
0.00001
|
|
NM_152564.5(VPS13B):c.559C>T (p.Arg187Cys)
|
rs367561688
|
0.00001
|
|
NM_152564.5(VPS13B):c.5613A>C (p.Thr1871=)
|
rs1417569777
|
0.00001
|
|
NM_152564.5(VPS13B):c.5650T>G (p.Ser1884Ala)
|
rs1829399025
|
0.00001
|
|
NM_152564.5(VPS13B):c.5658A>G (p.Lys1886=)
|
rs1338773440
|
0.00001
|
|
NM_152564.5(VPS13B):c.5677C>T (p.Leu1893Phe)
|
rs758410065
|
0.00001
|
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
|
NM_152564.5(VPS13B):c.5701A>G (p.Arg1901Gly)
|
rs1176179128
|
0.00001
|
|
NM_152564.5(VPS13B):c.5720C>T (p.Ala1907Val)
|
rs913328995
|
0.00001
|
|
NM_152564.5(VPS13B):c.5731A>G (p.Thr1911Ala)
|
rs946197995
|
0.00001
|
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
|
NM_152564.5(VPS13B):c.5774A>T (p.Gln1925Leu)
|
rs541081770
|
0.00001
|
|
NM_152564.5(VPS13B):c.5796T>C (p.Phe1932=)
|
rs765209957
|
0.00001
|
|
NM_152564.5(VPS13B):c.5818C>G (p.Leu1940Val)
|
rs781154165
|
0.00001
|
|
NM_152564.5(VPS13B):c.5832C>T (p.His1944=)
|
rs372340783
|
0.00001
|
|
NM_152564.5(VPS13B):c.5840A>G (p.Lys1947Arg)
|
rs777142337
|
0.00001
|
|
NM_152564.5(VPS13B):c.584C>G (p.Thr195Ser)
|
rs770738729
|
0.00001
|
|
NM_152564.5(VPS13B):c.585T>A (p.Thr195=)
|
rs773972779
|
0.00001
|
|
NM_152564.5(VPS13B):c.5889C>T (p.Ala1963=)
|
rs761911534
|
0.00001
|
|
NM_152564.5(VPS13B):c.5902T>C (p.Cys1968Arg)
|
rs1422533086
|
0.00001
|
|
NM_152564.5(VPS13B):c.5904T>C (p.Cys1968=)
|
rs773156709
|
0.00001
|
|
NM_152564.5(VPS13B):c.5909-10G>A
|
rs769191915
|
0.00001
|
|
NM_152564.5(VPS13B):c.5909-8C>T
|
rs369342604
|
0.00001
|
|
NM_152564.5(VPS13B):c.5950G>A (p.Val1984Ile)
|
rs1303328130
|
0.00001
|
|
NM_152564.5(VPS13B):c.5964A>G (p.Thr1988=)
|
rs373595694
|
0.00001
|
|
NM_152564.5(VPS13B):c.5980G>T (p.Asp1994Tyr)
|
rs1563849907
|
0.00001
|
|
NM_152564.5(VPS13B):c.5982C>T (p.Asp1994=)
|
rs759538241
|
0.00001
|
|
NM_152564.5(VPS13B):c.5988A>G (p.Lys1996=)
|
rs767548464
|
0.00001
|
|
NM_152564.5(VPS13B):c.6022A>T (p.Ile2008Phe)
|
rs753483216
|
0.00001
|
|
NM_152564.5(VPS13B):c.6047-4A>G
|
rs764928258
|
0.00001
|
|
NM_152564.5(VPS13B):c.6047-6C>T
|
rs1386160206
|
0.00001
|
|
NM_152564.5(VPS13B):c.6047C>T (p.Ala2016Val)
|
rs199837195
|
0.00001
|
|
NM_152564.5(VPS13B):c.6058T>C (p.Leu2020=)
|
rs377724023
|
0.00001
|
|
NM_152564.5(VPS13B):c.6073C>G (p.Pro2025Ala)
|
rs779210102
|
0.00001
|
|
NM_152564.5(VPS13B):c.6077T>A (p.Leu2026Ter)
|
rs1293372026
|
0.00001
|
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00001
|
|
NM_152564.5(VPS13B):c.6147C>T (p.His2049=)
|
rs770132791
|
0.00001
|
|
NM_152564.5(VPS13B):c.6178A>G (p.Met2060Val)
|
rs200711677
|
0.00001
|
|
NM_152564.5(VPS13B):c.6190A>G (p.Met2064Val)
|
rs200554315
|
0.00001
|
|
NM_152564.5(VPS13B):c.6216C>A (p.Val2072=)
|
rs1315907540
|
0.00001
|
|
NM_152564.5(VPS13B):c.6221A>C (p.Lys2074Thr)
|
rs1832190048
|
0.00001
|
|
NM_152564.5(VPS13B):c.6258T>C (p.His2086=)
|
rs1472821351
|
0.00001
|
|
NM_152564.5(VPS13B):c.6262G>A (p.Asp2088Asn)
|
rs1056435586
|
0.00001
|
|
NM_152564.5(VPS13B):c.6274A>C (p.Lys2092Gln)
|
rs1422079821
|
0.00001
|
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
|
NM_152564.5(VPS13B):c.6297G>T (p.Met2099Ile)
|
rs766003681
|
0.00001
|
|
NM_152564.5(VPS13B):c.6335A>G (p.Gln2112Arg)
|
rs1212416417
|
0.00001
|
|
NM_152564.5(VPS13B):c.6339T>C (p.Thr2113=)
|
rs747262961
|
0.00001
|
|
NM_152564.5(VPS13B):c.6358A>G (p.Met2120Val)
|
rs748059850
|
0.00001
|
|
NM_152564.5(VPS13B):c.6366T>C (p.Thr2122=)
|
rs769787067
|
0.00001
|
|
NM_152564.5(VPS13B):c.6401C>G (p.Ser2134Cys)
|
rs367838871
|
0.00001
|
|
NM_152564.5(VPS13B):c.6417T>C (p.Asn2139=)
|
rs1359924343
|
0.00001
|
|
NM_152564.5(VPS13B):c.6437C>T (p.Ala2146Val)
|
rs967172609
|
0.00001
|
|
NM_152564.5(VPS13B):c.6453T>G (p.Pro2151=)
|
rs536727985
|
0.00001
|
|
NM_152564.5(VPS13B):c.6456C>A (p.Gly2152=)
|
rs141845131
|
0.00001
|
|
NM_152564.5(VPS13B):c.6482T>C (p.Leu2161Pro)
|
rs1366756885
|
0.00001
|
|
NM_152564.5(VPS13B):c.6487A>G (p.Ile2163Val)
|
rs794727599
|
0.00001
|
|
NM_152564.5(VPS13B):c.6492C>T (p.Asn2164=)
|
rs773555887
|
0.00001
|
|
NM_152564.5(VPS13B):c.6527G>A (p.Ser2176Asn)
|
rs767664311
|
0.00001
|
|
NM_152564.5(VPS13B):c.6531C>T (p.Arg2177=)
|
rs753694921
|
0.00001
|
|
NM_152564.5(VPS13B):c.6544C>A (p.Pro2182Thr)
|
rs778567402
|
0.00001
|
|
NM_152564.5(VPS13B):c.6556A>G (p.Thr2186Ala)
|
rs532297738
|
0.00001
|
|
NM_152564.5(VPS13B):c.6558T>G (p.Thr2186=)
|
rs779788114
|
0.00001
|
|
NM_152564.5(VPS13B):c.6574A>G (p.Lys2192Glu)
|
rs1357919606
|
0.00001
|
|
NM_152564.5(VPS13B):c.6588C>T (p.His2196=)
|
rs1460052962
|
0.00001
|
|
NM_152564.5(VPS13B):c.6591C>T (p.Ser2197=)
|
rs774730061
|
0.00001
|
|
NM_152564.5(VPS13B):c.6592G>A (p.Gly2198Arg)
|
rs751576277
|
0.00001
|
|
NM_152564.5(VPS13B):c.6600A>G (p.Pro2200=)
|
rs1259627712
|
0.00001
|
|
NM_152564.5(VPS13B):c.6602G>T (p.Gly2201Val)
|
rs149727474
|
0.00001
|
|
NM_152564.5(VPS13B):c.6609A>C (p.Glu2203Asp)
|
rs1421107785
|
0.00001
|
|
NM_152564.5(VPS13B):c.6648T>C (p.Gly2216=)
|
rs746640467
|
0.00001
|
|
NM_152564.5(VPS13B):c.6658-3A>T
|
rs994417111
|
0.00001
|
|
NM_152564.5(VPS13B):c.6676C>T (p.His2226Tyr)
|
rs747340772
|
0.00001
|
|
NM_152564.5(VPS13B):c.6698T>C (p.Leu2233Pro)
|
rs776873589
|
0.00001
|
|
NM_152564.5(VPS13B):c.6708A>T (p.Leu2236Phe)
|
rs1001219779
|
0.00001
|
|
NM_152564.5(VPS13B):c.6723T>G (p.Leu2241=)
|
rs924902847
|
0.00001
|
|
NM_152564.5(VPS13B):c.6808A>T (p.Ser2270Cys)
|
rs1445900590
|
0.00001
|
|
NM_152564.5(VPS13B):c.6823G>C (p.Asp2275His)
|
rs1833091516
|
0.00001
|
|
NM_152564.5(VPS13B):c.6866-14C>A
|
rs1277958075
|
0.00001
|
|
NM_152564.5(VPS13B):c.6879G>A (p.Leu2293=)
|
rs753494412
|
0.00001
|
|
NM_152564.5(VPS13B):c.6930G>A (p.Gly2310=)
|
rs778096388
|
0.00001
|
|
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
|
rs386834104
|
0.00001
|
|
NM_152564.5(VPS13B):c.6948T>C (p.Tyr2316=)
|
rs774332625
|
0.00001
|
|
NM_152564.5(VPS13B):c.6976C>T (p.Arg2326Ter)
|
rs120074150
|
0.00001
|
|
NM_152564.5(VPS13B):c.69G>C (p.Pro23=)
|
rs570877761
|
0.00001
|
|
NM_152564.5(VPS13B):c.7012C>T (p.Pro2338Ser)
|
rs1833108064
|
0.00001
|
|
NM_152564.5(VPS13B):c.7025C>T (p.Thr2342Ile)
|
rs1833108203
|
0.00001
|
|
NM_152564.5(VPS13B):c.7047A>G (p.Leu2349=)
|
rs201133836
|
0.00001
|
|
NM_152564.5(VPS13B):c.704G>T (p.Arg235Ile)
|
rs1459648775
|
0.00001
|
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
|
NM_152564.5(VPS13B):c.7059T>C (p.Cys2353=)
|
rs1048602429
|
0.00001
|
|
NM_152564.5(VPS13B):c.7063T>C (p.Leu2355=)
|
rs1217104122
|
0.00001
|
|
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln)
|
rs533701597
|
0.00001
|
|
NM_152564.5(VPS13B):c.7088A>G (p.Lys2363Arg)
|
rs778935189
|
0.00001
|
|
NM_152564.5(VPS13B):c.7099G>T (p.Ala2367Ser)
|
rs1001142449
|
0.00001
|
|
NM_152564.5(VPS13B):c.710G>A (p.Arg237His)
|
rs751804274
|
0.00001
|
|
NM_152564.5(VPS13B):c.7128C>A (p.Ser2376Arg)
|
rs1811252908
|
0.00001
|
|
NM_152564.5(VPS13B):c.7165G>A (p.Val2389Met)
|
rs764630440
|
0.00001
|
|
NM_152564.5(VPS13B):c.7167G>A (p.Val2389=)
|
rs145846582
|
0.00001
|
|
NM_152564.5(VPS13B):c.7187T>A (p.Val2396Glu)
|
rs754410472
|
0.00001
|
|
NM_152564.5(VPS13B):c.7188A>G (p.Val2396=)
|
rs928101727
|
0.00001
|
|
NM_152564.5(VPS13B):c.7199T>C (p.Leu2400Pro)
|
rs1289418559
|
0.00001
|
|
NM_152564.5(VPS13B):c.7207A>G (p.Ile2403Val)
|
rs765664729
|
0.00001
|
|
NM_152564.5(VPS13B):c.7230T>A (p.Asn2410Lys)
|
rs758694590
|
0.00001
|
|
NM_152564.5(VPS13B):c.7247+9T>C
|
rs545008110
|
0.00001
|
|
NM_152564.5(VPS13B):c.7262C>G (p.Ser2421Cys)
|
rs1016168403
|
0.00001
|
|
NM_152564.5(VPS13B):c.7284T>C (p.Asp2428=)
|
rs1811763314
|
0.00001
|
|
NM_152564.5(VPS13B):c.7301C>T (p.Thr2434Ile)
|
rs1811763988
|
0.00001
|
|
NM_152564.5(VPS13B):c.7345T>C (p.Trp2449Arg)
|
rs1053258649
|
0.00001
|
|
NM_152564.5(VPS13B):c.7358C>T (p.Ser2453Phe)
|
rs1811766011
|
0.00001
|
|
NM_152564.5(VPS13B):c.7371T>C (p.Ser2457=)
|
rs545012804
|
0.00001
|
|
NM_152564.5(VPS13B):c.7390G>C (p.Glu2464Gln)
|
rs752014773
|
0.00001
|
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
|
NM_152564.5(VPS13B):c.7454T>C (p.Phe2485Ser)
|
rs779696637
|
0.00001
|
|
NM_152564.5(VPS13B):c.7477T>A (p.Ser2493Thr)
|
rs779401089
|
0.00001
|
|
NM_152564.5(VPS13B):c.7485A>G (p.Leu2495=)
|
rs746175640
|
0.00001
|
|
NM_152564.5(VPS13B):c.7492A>G (p.Met2498Val)
|
rs772347065
|
0.00001
|
|
NM_152564.5(VPS13B):c.750A>G (p.Pro250=)
|
rs771965319
|
0.00001
|
|
NM_152564.5(VPS13B):c.7519A>G (p.Met2507Val)
|
rs1467331063
|
0.00001
|
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
|
NM_152564.5(VPS13B):c.763-10C>T
|
rs375512611
|
0.00001
|
|
NM_152564.5(VPS13B):c.763-7A>G
|
rs972645639
|
0.00001
|
|
NM_152564.5(VPS13B):c.7654A>T (p.Met2552Leu)
|
rs747240552
|
0.00001
|
|
NM_152564.5(VPS13B):c.7663T>G (p.Ser2555Ala)
|
rs887354798
|
0.00001
|
|
NM_152564.5(VPS13B):c.7686G>A (p.Leu2562=)
|
rs1253906756
|
0.00001
|
|
NM_152564.5(VPS13B):c.7687C>G (p.Leu2563Val)
|
rs1451188144
|
0.00001
|
|
NM_152564.5(VPS13B):c.7688T>G (p.Leu2563Arg)
|
rs759385151
|
0.00001
|
|
NM_152564.5(VPS13B):c.7692C>G (p.Asp2564Glu)
|
rs767022008
|
0.00001
|
|
NM_152564.5(VPS13B):c.7705G>A (p.Val2569Ile)
|
rs780461877
|
0.00001
|
|
NM_152564.5(VPS13B):c.7716A>G (p.Val2572=)
|
rs981350121
|
0.00001
|
|
NM_152564.5(VPS13B):c.7722A>C (p.Val2574=)
|
rs1811878366
|
0.00001
|
|
NM_152564.5(VPS13B):c.7724A>T (p.Asn2575Ile)
|
rs549157416
|
0.00001
|
|
NM_152564.5(VPS13B):c.7734G>A (p.Gln2578=)
|
rs1237963374
|
0.00001
|
|
NM_152564.5(VPS13B):c.773T>C (p.Leu258Ser)
|
rs1026827853
|
0.00001
|
|
NM_152564.5(VPS13B):c.7780-2A>C
|
rs1378196300
|
0.00001
|
|
NM_152564.5(VPS13B):c.7792G>A (p.Glu2598Lys)
|
rs202238616
|
0.00001
|
|
NM_152564.5(VPS13B):c.7824G>C (p.Val2608=)
|
rs1212084620
|
0.00001
|
|
NM_152564.5(VPS13B):c.7851G>A (p.Leu2617=)
|
rs920428153
|
0.00001
|
|
NM_152564.5(VPS13B):c.7866G>A (p.Val2622=)
|
rs772064414
|
0.00001
|
|
NM_152564.5(VPS13B):c.78A>G (p.Leu26=)
|
rs745980143
|
0.00001
|
|
NM_152564.5(VPS13B):c.7912T>C (p.Tyr2638His)
|
rs761563766
|
0.00001
|
|
NM_152564.5(VPS13B):c.7931A>G (p.Lys2644Arg)
|
rs760112876
|
0.00001
|
|
NM_152564.5(VPS13B):c.7938A>G (p.Pro2646=)
|
rs768082312
|
0.00001
|
|
NM_152564.5(VPS13B):c.7942-10T>C
|
rs1392078176
|
0.00001
|
|
NM_152564.5(VPS13B):c.7942-7T>C
|
rs200896111
|
0.00001
|
|
NM_152564.5(VPS13B):c.7945T>G (p.Leu2649Val)
|
rs533426135
|
0.00001
|
|
NM_152564.5(VPS13B):c.7965T>C (p.Gly2655=)
|
rs758430817
|
0.00001
|
|
NM_152564.5(VPS13B):c.7968G>A (p.Trp2656Ter)
|
rs766484806
|
0.00001
|
|
NM_152564.5(VPS13B):c.796A>G (p.Ile266Val)
|
rs752505325
|
0.00001
|
|
NM_152564.5(VPS13B):c.7974C>T (p.Asn2658=)
|
rs756420442
|
0.00001
|
|
NM_152564.5(VPS13B):c.7979G>A (p.Arg2660His)
|
rs555559192
|
0.00001
|
|
NM_152564.5(VPS13B):c.8023A>G (p.Arg2675Gly)
|
rs770879393
|
0.00001
|
|
NM_152564.5(VPS13B):c.8037C>T (p.Tyr2679=)
|
rs777019428
|
0.00001
|
|
NM_152564.5(VPS13B):c.8041G>A (p.Gly2681Ser)
|
rs762186948
|
0.00001
|
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
|
NM_152564.5(VPS13B):c.8068G>A (p.Val2690Ile)
|
rs751700874
|
0.00001
|
|
NM_152564.5(VPS13B):c.8097+1G>A
|
rs1813590716
|
0.00001
|
|
NM_152564.5(VPS13B):c.8110G>A (p.Gly2704Arg)
|
rs767536787
|
0.00001
|
|
NM_152564.5(VPS13B):c.813G>C (p.Leu271=)
|
rs1563548958
|
0.00001
|
|
NM_152564.5(VPS13B):c.8160C>A (p.Val2720=)
|
rs373348061
|
0.00001
|
|
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys)
|
rs138453594
|
0.00001
|
|
NM_152564.5(VPS13B):c.8173A>G (p.Ile2725Val)
|
rs201127443
|
0.00001
|
|
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln)
|
rs370701337
|
0.00001
|
|
NM_152564.5(VPS13B):c.8218C>T (p.Leu2740Phe)
|
rs772183822
|
0.00001
|
|
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe)
|
rs1016035749
|
0.00001
|
|
NM_152564.5(VPS13B):c.8248A>G (p.Ile2750Val)
|
rs1465869942
|
0.00001
|
|
NM_152564.5(VPS13B):c.826C>T (p.Arg276Cys)
|
rs1297259725
|
0.00001
|
|
NM_152564.5(VPS13B):c.8270C>T (p.Thr2757Met)
|
rs1297641779
|
0.00001
|
|
NM_152564.5(VPS13B):c.8271G>A (p.Thr2757=)
|
rs758044842
|
0.00001
|
|
NM_152564.5(VPS13B):c.827G>A (p.Arg276His)
|
rs181021782
|
0.00001
|
|
NM_152564.5(VPS13B):c.8293G>A (p.Gly2765Arg)
|
rs750963582
|
0.00001
|
|
NM_152564.5(VPS13B):c.8304C>T (p.Asp2768=)
|
rs1464962948
|
0.00001
|
|
NM_152564.5(VPS13B):c.8310A>G (p.Ser2770=)
|
rs982023622
|
0.00001
|
|
NM_152564.5(VPS13B):c.8343G>A (p.Glu2781=)
|
rs1372155157
|
0.00001
|
|
NM_152564.5(VPS13B):c.8353G>A (p.Val2785Ile)
|
rs377170629
|
0.00001
|
|
NM_152564.5(VPS13B):c.8361+12C>T
|
rs886062546
|
0.00001
|
|
NM_152564.5(VPS13B):c.8382C>T (p.Ser2794=)
|
rs1350773456
|
0.00001
|
|
NM_152564.5(VPS13B):c.8391T>C (p.Tyr2797=)
|
rs1221576628
|
0.00001
|
|
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)
|
rs386834112
|
0.00001
|
|
NM_152564.5(VPS13B):c.8426C>G (p.Ser2809Cys)
|
rs1588743592
|
0.00001
|
|
NM_152564.5(VPS13B):c.8429A>C (p.Gln2810Pro)
|
rs769551176
|
0.00001
|
|
NM_152564.5(VPS13B):c.8445+19C>T
|
rs377331722
|
0.00001
|
|
NM_152564.5(VPS13B):c.8446-10A>G
|
rs1009617201
|
0.00001
|
|
NM_152564.5(VPS13B):c.8446-8T>A
|
rs774202116
|
0.00001
|
|
NM_152564.5(VPS13B):c.8460T>C (p.Pro2820=)
|
rs750875099
|
0.00001
|
|
NM_152564.5(VPS13B):c.8480A>G (p.His2827Arg)
|
rs755406876
|
0.00001
|
|
NM_152564.5(VPS13B):c.8497A>G (p.Ile2833Val)
|
rs797046096
|
0.00001
|
|
NM_152564.5(VPS13B):c.8498T>G (p.Ile2833Ser)
|
rs1231452283
|
0.00001
|
|
NM_152564.5(VPS13B):c.8506T>G (p.Leu2836Val)
|
rs1476327965
|
0.00001
|
|
NM_152564.5(VPS13B):c.8527T>A (p.Leu2843Met)
|
rs778838868
|
0.00001
|
|
NM_152564.5(VPS13B):c.8548C>T (p.Pro2850Ser)
|
rs1452503935
|
0.00001
|
|
NM_152564.5(VPS13B):c.8595T>C (p.Leu2865=)
|
rs761233089
|
0.00001
|
|
NM_152564.5(VPS13B):c.8647G>T (p.Ala2883Ser)
|
rs1260884050
|
0.00001
|
|
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=)
|
rs199552885
|
0.00001
|
|
NM_152564.5(VPS13B):c.8680A>G (p.Ile2894Val)
|
rs1272294316
|
0.00001
|
|
NM_152564.5(VPS13B):c.8691G>A (p.Lys2897=)
|
rs1364307723
|
0.00001
|
|
NM_152564.5(VPS13B):c.8694A>G (p.Val2898=)
|
rs1482608670
|
0.00001
|
|
NM_152564.5(VPS13B):c.8697C>T (p.His2899=)
|
rs375911218
|
0.00001
|
|
NM_152564.5(VPS13B):c.8700T>C (p.Pro2900=)
|
rs1316265619
|
0.00001
|
|
NM_152564.5(VPS13B):c.8719A>G (p.Ile2907Val)
|
rs1462824433
|
0.00001
|
|
NM_152564.5(VPS13B):c.8735A>G (p.Tyr2912Cys)
|
rs769404310
|
0.00001
|
|
NM_152564.5(VPS13B):c.8741C>T (p.Pro2914Leu)
|
rs147437490
|
0.00001
|
|
NM_152564.5(VPS13B):c.8756A>G (p.Gln2919Arg)
|
rs987741026
|
0.00001
|
|
NM_152564.5(VPS13B):c.8769C>G (p.Pro2923=)
|
rs1814245219
|
0.00001
|
|
NM_152564.5(VPS13B):c.8792+1G>T
|
rs1415714103
|
0.00001
|
|
NM_152564.5(VPS13B):c.8793-6G>T
|
rs773442324
|
0.00001
|
|
NM_152564.5(VPS13B):c.8824A>G (p.Met2942Val)
|
rs752484886
|
0.00001
|
|
NM_152564.5(VPS13B):c.8825T>C (p.Met2942Thr)
|
rs1305759367
|
0.00001
|
|
NM_152564.5(VPS13B):c.8827C>T (p.Arg2943Ter)
|
rs755996065
|
0.00001
|
|
NM_152564.5(VPS13B):c.8881C>T (p.Leu2961=)
|
rs773387480
|
0.00001
|
|
NM_152564.5(VPS13B):c.8958T>G (p.Val2986=)
|
rs753530965
|
0.00001
|
|
NM_152564.5(VPS13B):c.8973T>A (p.Ile2991=)
|
rs1022439402
|
0.00001
|
|
NM_152564.5(VPS13B):c.8994+17A>G
|
rs749842844
|
0.00001
|
|
NM_152564.5(VPS13B):c.9006A>G (p.Gln3002=)
|
rs952274759
|
0.00001
|
|
NM_152564.5(VPS13B):c.9023C>A (p.Ala3008Glu)
|
rs6992059
|
0.00001
|
|
NM_152564.5(VPS13B):c.9061C>T (p.Leu3021=)
|
rs1158378699
|
0.00001
|
|
NM_152564.5(VPS13B):c.910A>G (p.Asn304Asp)
|
rs1320309593
|
0.00001
|
|
NM_152564.5(VPS13B):c.9121C>T (p.Leu3041=)
|
rs1223370834
|
0.00001
|
|
NM_152564.5(VPS13B):c.9142G>A (p.Asp3048Asn)
|
rs1480540038
|
0.00001
|
|
NM_152564.5(VPS13B):c.9156A>T (p.Arg3052Ser)
|
rs747092413
|
0.00001
|
|
NM_152564.5(VPS13B):c.9183+7T>A
|
rs1217059382
|
0.00001
|
|
NM_152564.5(VPS13B):c.9186A>G (p.Leu3062=)
|
rs984224710
|
0.00001
|
|
NM_152564.5(VPS13B):c.9192G>C (p.Gln3064His)
|
rs376291996
|
0.00001
|
|
NM_152564.5(VPS13B):c.9237G>A (p.Gln3079=)
|
rs1165828712
|
0.00001
|
|
NM_152564.5(VPS13B):c.927A>C (p.Gly309=)
|
rs1252576777
|
0.00001
|
|
NM_152564.5(VPS13B):c.9298C>T (p.Leu3100=)
|
rs780381150
|
0.00001
|
|
NM_152564.5(VPS13B):c.9311A>G (p.Asn3104Ser)
|
rs1157467792
|
0.00001
|
|
NM_152564.5(VPS13B):c.9339T>A (p.Arg3113=)
|
rs78277780
|
0.00001
|
|
NM_152564.5(VPS13B):c.937+8A>G
|
rs1266327291
|
0.00001
|
|
NM_152564.5(VPS13B):c.938-7T>A
|
rs200067547
|
0.00001
|
|
NM_152564.5(VPS13B):c.938-7T>C
|
rs200067547
|
0.00001
|
|
NM_152564.5(VPS13B):c.9413G>A (p.Cys3138Tyr)
|
rs759831421
|
0.00001
|
|
NM_152564.5(VPS13B):c.9433A>G (p.Ile3145Val)
|
rs756197846
|
0.00001
|
|
NM_152564.5(VPS13B):c.943G>A (p.Glu315Lys)
|
rs1035761875
|
0.00001
|
|
NM_152564.5(VPS13B):c.9448C>T (p.Leu3150=)
|
rs1383239374
|
0.00001
|
|
NM_152564.5(VPS13B):c.9456A>G (p.Ala3152=)
|
rs1815134452
|
0.00001
|
|
NM_152564.5(VPS13B):c.9468G>A (p.Gln3156=)
|
rs1423791832
|
0.00001
|
|
NM_152564.5(VPS13B):c.9475A>G (p.Ile3159Val)
|
rs905882677
|
0.00001
|
|
NM_152564.5(VPS13B):c.9481C>T (p.Leu3161=)
|
rs201494563
|
0.00001
|
|
NM_152564.5(VPS13B):c.9483G>A (p.Leu3161=)
|
rs750174157
|
0.00001
|
|
NM_152564.5(VPS13B):c.9541G>A (p.Val3181Ile)
|
rs904676214
|
0.00001
|
|
NM_152564.5(VPS13B):c.9546A>G (p.Arg3182=)
|
rs1434707847
|
0.00001
|
|
NM_152564.5(VPS13B):c.9551A>G (p.Glu3184Gly)
|
rs772361332
|
0.00001
|
|
NM_152564.5(VPS13B):c.9582C>T (p.Leu3194=)
|
rs757859930
|
0.00001
|
|
NM_152564.5(VPS13B):c.9585G>A (p.Gly3195=)
|
rs1334078728
|
0.00001
|
|
NM_152564.5(VPS13B):c.9597A>G (p.Glu3199=)
|
rs758186677
|
0.00001
|
|
NM_152564.5(VPS13B):c.9603A>G (p.Gly3201=)
|
rs564362618
|
0.00001
|
|
NM_152564.5(VPS13B):c.9615-9C>T
|
rs1318548049
|
0.00001
|
|
NM_152564.5(VPS13B):c.9646G>A (p.Gly3216Arg)
|
rs758775003
|
0.00001
|
|
NM_152564.5(VPS13B):c.9686G>A (p.Arg3229Gln)
|
rs769856598
|
0.00001
|
|
NM_152564.5(VPS13B):c.969A>G (p.Gln323=)
|
rs1443301786
|
0.00001
|
|
NM_152564.5(VPS13B):c.9742+12A>G
|
rs763822536
|
0.00001
|
|
NM_152564.5(VPS13B):c.9748C>G (p.Pro3250Ala)
|
rs1295909129
|
0.00001
|
|
NM_152564.5(VPS13B):c.9749C>T (p.Pro3250Leu)
|
rs761208848
|
0.00001
|
|
NM_152564.5(VPS13B):c.9750A>G (p.Pro3250=)
|
rs764864362
|
0.00001
|
|
NM_152564.5(VPS13B):c.9775A>T (p.Ile3259Phe)
|
rs1425945549
|
0.00001
|
|
NM_152564.5(VPS13B):c.9782C>T (p.Ser3261Phe)
|
rs1372759268
|
0.00001
|
|
NM_152564.5(VPS13B):c.9784G>A (p.Glu3262Lys)
|
rs756531043
|
0.00001
|
|
NM_152564.5(VPS13B):c.9941A>G (p.Gln3314Arg)
|
rs558911841
|
0.00001
|
|
NM_152564.5(VPS13B):c.9957T>C (p.Thr3319=)
|
rs560490673
|
0.00001
|
|
NM_152564.5(VPS13B):c.9968A>G (p.Tyr3323Cys)
|
rs376549169
|
0.00001
|
|
NM_152564.5(VPS13B):c.9975T>C (p.Tyr3325=)
|
rs369522130
|
0.00001
|
|
NM_152564.5(VPS13B):c.9976G>A (p.Val3326Met)
|
rs754882929
|
0.00001
|
|
NM_152564.5(VPS13B):c.999A>G (p.Leu333=)
|
rs762085583
|
0.00001
|
|
NM_183235.3(RAB27A):c.*1598A>G
|
rs565137216
|
0.00001
|
|
NM_183235.3(RAB27A):c.*1915A>T
|
rs1192254377
|
0.00001
|
|
NM_183235.3(RAB27A):c.*2031C>T
|
rs1300772256
|
0.00001
|
|
NM_183235.3(RAB27A):c.*730T>C
|
rs886051310
|
0.00001
|
|
NM_183235.3(RAB27A):c.126G>A (p.Val42=)
|
rs1356387047
|
0.00001
|
|
NM_183235.3(RAB27A):c.130A>G (p.Ile44Val)
|
rs763762181
|
0.00001
|
|
NM_183235.3(RAB27A):c.148A>C (p.Arg50=)
|
rs767963780
|
0.00001
|
|
NM_183235.3(RAB27A):c.149del (p.Arg50fs)
|
rs770601673
|
0.00001
|
|
NM_183235.3(RAB27A):c.153+10A>G
|
rs774986160
|
0.00001
|
|
NM_183235.3(RAB27A):c.153+12A>T
|
rs770930489
|
0.00001
|
|
NM_183235.3(RAB27A):c.159C>T (p.Tyr53=)
|
rs529088883
|
0.00001
|
|
NM_183235.3(RAB27A):c.165C>T (p.Ala55=)
|
rs765203586
|
0.00001
|
|
NM_183235.3(RAB27A):c.175G>C (p.Asp59His)
|
rs770949071
|
0.00001
|
|
NM_183235.3(RAB27A):c.209T>C (p.Leu70Pro)
|
rs1371360853
|
0.00001
|
|
NM_183235.3(RAB27A):c.239+15G>C
|
rs760864329
|
0.00001
|
|
NM_183235.3(RAB27A):c.240-5C>G
|
rs750942183
|
0.00001
|
|
NM_183235.3(RAB27A):c.245G>A (p.Arg82His)
|
rs140640177
|
0.00001
|
|
NM_183235.3(RAB27A):c.261G>A (p.Ala87=)
|
rs779504249
|
0.00001
|
|
NM_183235.3(RAB27A):c.344-13C>G
|
rs1171254261
|
0.00001
|
|
NM_183235.3(RAB27A):c.400_401del (p.Lys134fs)
|
rs755338751
|
0.00001
|
|
NM_183235.3(RAB27A):c.454G>A (p.Ala152Thr)
|
rs104894499
|
0.00001
|
|
NM_183235.3(RAB27A):c.473C>G (p.Pro158Arg)
|
rs746081723
|
0.00001
|
|
NM_183235.3(RAB27A):c.520A>G (p.Ile174Val)
|
rs751121802
|
0.00001
|
|
NM_183235.3(RAB27A):c.596T>C (p.Val199Ala)
|
rs778390086
|
0.00001
|
|
NM_183235.3(RAB27A):c.598C>T (p.Arg200Ter)
|
rs757849893
|
0.00001
|
|
NM_183235.3(RAB27A):c.627G>C (p.Gln209His)
|
rs776080472
|
0.00001
|
|
NM_183235.3(RAB27A):c.652G>A (p.Ala218Thr)
|
rs373190916
|
0.00001
|
|
46;XX;inv(2)(q13q14.2)
|
|
|
|
46;XY;t(16;20)(q23.1;p11.22)
|
|
|
|
GRCh37/hg19 1q21.3(chr1:154247426-154248177)
|
|
|
|
GRCh37/hg19 22q11.21(chr22:18894835-21505417)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100067471-100156392)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100108619-100160324)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100123326-100182391)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100133404-100133674)x1
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100168626-100298366)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100232749-100493790)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100274176-100477297)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100479441-100545102)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100587642-100712137)
|
|
|
|
GRCh37/hg19 8q22.2(chr8:100830629-100833766)x1
|
|
|
|
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
|
|
|
|
NC_000001.10:g.(235914663_235915304)_(235916575_235918777)del
|
|
|
|
NC_000001.10:g.(?_149895434)_(156851434_?)dup
|
|
|
|
NC_000001.10:g.(?_150044213)_(150477474_?)dup
|
|
|
|
NC_000001.10:g.(?_150048291)_(150082762_?)dup
|
|
|
|
NC_000001.10:g.(?_153963273)_(154580482_?)del
|
|
|
|
NC_000001.10:g.(?_154246017)_(154247306_?)del
|
|
|
|
NC_000001.10:g.(?_235275379)_(236899040_?)del
|
|
|
|
NC_000001.10:g.(?_235543365)_(235922919_?)del
|
|
|
|
NC_000001.10:g.(?_235613501)_(235827941_?)dup
|
|
|
|
NC_000001.10:g.(?_235826240)_(235945407_?)dup
|
|
|
|
NC_000001.10:g.(?_235826240)_(235976381_?)del
|
|
|
|
NC_000001.10:g.(?_235827745)_(235827941_?)del
|
|
|
|
NC_000001.10:g.(?_235840371)_(235860592_?)del
|
|
|
|
NC_000001.10:g.(?_235850229)_(235860592_?)del
|
|
|
|
NC_000001.10:g.(?_235850229)_(235872628_?)del
|
|
|
|
NC_000001.10:g.(?_235850329)_(235858090_?)del
|
|
|
|
NC_000001.10:g.(?_235937122)_(235944375_?)del
|
|
|
|
NC_000001.10:g.(?_235950490)_(235964407_?)dup
|
|
|
|
NC_000001.10:g.(?_36931958)_(36937267_?)dup
|
|
|
|
NC_000001.10:g.(?_36940958)_(36941294_?)del
|
|
|
|
NC_000001.10:g.(?_92457801)_(92949044_?)dup
|
|
|
|
NC_000001.10:g.(?_92941566)_(92949064_?)del
|
|
|
|
NC_000001.10:g.(?_92941586)_(93307422_?)del
|
|
|
|
NC_000001.11:g.(?_154274930)_(154275721_?)del
|
|
|
|
NC_000001.11:g.(?_235662920)_(235782107_?)del
|
|
|
|
NC_000002.11:g.(?_135809878)_(136875630_?)del
|
|
|
|
NC_000002.12:g.(?_135950413)_(136118080_?)del
|
|
|
|
NC_000002.12:g.(?_135950413)_(136118080_?)dup
|
|
|
|
NC_000003.11:g.(?_9908818)_(10191649_?)dup
|
|
|
|
NC_000003.11:g.(?_9908818)_(9932515_?)dup
|
|
|
|
NC_000003.11:g.(?_9932387)_(9935081_?)dup
|
|
|
|
NC_000005.10:g.(?_78020672)_(78089519_?)del
|
|
|
|
NC_000005.10:g.(?_78089373)_(78141339_?)del
|
|
|
|
NC_000005.9:g.(?_76115008)_(78281071_?)del
|
|
|
|
NC_000005.9:g.(?_77471430)_(77477506_?)del
|
|
|
|
NC_000005.9:g.(?_77536666)_(77590423_?)dup
|
|
|
|
NC_000005.9:g.(?_77590256)_(77590403_?)del
|
|
|
|
NC_000008.10:g.(100115349_100123325)_(100182392_100205103)del
|
|
|
|
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
|
|
|
|
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
|
|
|
|
NC_000008.10:g.(100568882_100587885)_(100789185_100790909)del
|
|
|
|
NC_000008.10:g.(100568882_100587885)_(100791260_100796542)del
|
|
|
|
NC_000008.10:g.(?_100025484)_(100026173_?)del
|
|
|
|
NC_000008.10:g.(?_100025997)_(100133735_?)dup
|
|
|
|
NC_000008.10:g.(?_100026017)_(100026183_?)del
|
|
|
|
NC_000008.10:g.(?_100026017)_(100026183_?)dup
|
|
|
|
NC_000008.10:g.(?_100026017)_(100133693_?)dup
|
|
|
|
NC_000008.10:g.(?_100026017)_(100149000_?)dup
|
|
|
|
NC_000008.10:g.(?_100026017)_(100287502_?)dup
|
|
|
|
NC_000008.10:g.(?_100026017)_(100887894_?)del
|
|
|
|
NC_000008.10:g.(?_100050631)_(100115368_?)del
|
|
|
|
NC_000008.10:g.(?_100050631)_(100128122_?)dup
|
|
|
|
NC_000008.10:g.(?_100050631)_(100155413_?)del
|
|
|
|
NC_000008.10:g.(?_100050631)_(100205305_?)del
|
|
|
|
NC_000008.10:g.(?_100050631)_(100287502_?)dup
|
|
|
|
NC_000008.10:g.(?_100050631)_(100396565_?)dup
|
|
|
|
NC_000008.10:g.(?_100050713)_(100057034_?)del
|
|
|
|
NC_000008.10:g.(?_100108520)_(100108680_?)del
|
|
|
|
NC_000008.10:g.(?_100108520)_(100115368_?)del
|
|
|
|
NC_000008.10:g.(?_100108520)_(100155413_?)dup
|
|
|
|
NC_000008.10:g.(?_100108520)_(100205305_?)dup
|
|
|
|
NC_000008.10:g.(?_100108520)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100128112_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100155403_?)dup
|
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)dup
|
|
|
|
NC_000008.10:g.(?_100108530)_(100205295_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100108530)_(100494040_?)del
|
|
|
|
NC_000008.10:g.(?_100115161)_(100123527_?)del
|
|
|
|
NC_000008.10:g.(?_100115944)_(100711757_?)del
|
|
|
|
NC_000008.10:g.(?_100123306)_(100133735_?)dup
|
|
|
|
NC_000008.10:g.(?_100123306)_(100168991_?)del
|
|
|
|
NC_000008.10:g.(?_100123306)_(100182411_?)del
|
|
|
|
NC_000008.10:g.(?_100123306)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100123316)_(100123517_?)del
|
|
|
|
NC_000008.10:g.(?_100127908)_(100287502_?)del
|
|
|
|
NC_000008.10:g.(?_100133385)_(100133693_?)del
|
|
|
|
NC_000008.10:g.(?_100133385)_(100160258_?)dup
|
|
|
|
NC_000008.10:g.(?_100133395)_(100134000_?)del
|
|
|
|
NC_000008.10:g.(?_100146840)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100146850)_(100221906_?)del
|
|
|
|
NC_000008.10:g.(?_100146850)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100146850)_(100533248_?)del
|
|
|
|
NC_000008.10:g.(?_100147223)_(100155413_?)del
|
|
|
|
NC_000008.10:g.(?_100155192)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100155202)_(100221801_?)del
|
|
|
|
NC_000008.10:g.(?_100157931)_(100160219_?)del
|
|
|
|
NC_000008.10:g.(?_100160049)_(100160258_?)del
|
|
|
|
NC_000008.10:g.(?_100160049)_(100168991_?)del
|
|
|
|
NC_000008.10:g.(?_100162579)_(100168929_?)del
|
|
|
|
NC_000008.10:g.(?_100168757)_(100168991_?)del
|
|
|
|
NC_000008.10:g.(?_100168757)_(100205305_?)del
|
|
|
|
NC_000008.10:g.(?_100182247)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100182247)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100182257)_(100221906_?)del
|
|
|
|
NC_000008.10:g.(?_100182257)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100182257)_(100479872_?)del
|
|
|
|
NC_000008.10:g.(?_100205084)_(100205305_?)del
|
|
|
|
NC_000008.10:g.(?_100205084)_(100454883_?)del
|
|
|
|
NC_000008.10:g.(?_100205084)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100205094)_(100205295_?)dup
|
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)del
|
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)dup
|
|
|
|
NC_000008.10:g.(?_100205094)_(100733285_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100287502_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100494050_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100515198_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100520159_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100523760_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100533258_?)del
|
|
|
|
NC_000008.10:g.(?_100286406)_(100874194_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100454873_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100568891_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100673729_?)del
|
|
|
|
NC_000008.10:g.(?_100286416)_(100821768_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100396565_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100443912_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100479882_?)del
|
|
|
|
NC_000008.10:g.(?_100396416)_(100515198_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100403942_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100454873_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100479872_?)dup
|
|
|
|
NC_000008.10:g.(?_100396426)_(100523750_?)del
|
|
|
|
NC_000008.10:g.(?_100396426)_(100589871_?)del
|
|
|
|
NC_000008.10:g.(?_100403765)_(100403952_?)del
|
|
|
|
NC_000008.10:g.(?_100403765)_(100403952_?)dup
|
|
|
|
NC_000008.10:g.(?_100443745)_(100443912_?)del
|
|
|
|
NC_000008.10:g.(?_100443745)_(100454883_?)del
|
|
|
|
NC_000008.10:g.(?_100443745)_(100533258_?)dup
|
|
|
|
NC_000008.10:g.(?_100443745)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100443755)_(100443902_?)dup
|
|
|
|
NC_000008.10:g.(?_100443755)_(100568891_?)del
|
|
|
|
NC_000008.10:g.(?_100454609)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100454619)_(100533248_?)del
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|
|
NC_000008.10:g.(?_100454619)_(100673729_?)del
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|
|
NC_000008.10:g.(?_100479254)_(100479653_?)del
|
|
|
|
NC_000008.10:g.(?_100479619)_(100533258_?)del
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|
|
NC_000008.10:g.(?_100479622)_(100479882_?)del
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|
|
NC_000008.10:g.(?_100479622)_(100533258_?)del
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|
|
NC_000008.10:g.(?_100479622)_(100589881_?)del
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|
|
NC_000008.10:g.(?_100479632)_(100494040_?)del
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|
|
NC_000008.10:g.(?_100493807)_(100533258_?)del
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|
|
NC_000008.10:g.(?_100493807)_(100729621_?)del
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|
NC_000008.10:g.(?_100493817)_(100588022_?)del
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|
NC_000008.10:g.(?_100513905)_(100514096_?)del
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|
|
NC_000008.10:g.(?_100515082)_(100516199_?)del
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|
|
NC_000008.10:g.(?_100515082)_(100589871_?)del
|
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|
|
NC_000008.10:g.(?_100519978)_(100533258_?)del
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|
|
NC_000008.10:g.(?_100523312)_(100779218_?)del
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|
NC_000008.10:g.(?_100533107)_(100588032_?)del
|
|
|
|
NC_000008.10:g.(?_100533107)_(100589881_?)del
|
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|
|
NC_000008.10:g.(?_100533107)_(100733295_?)del
|
|
|
|
NC_000008.10:g.(?_100533117)_(100568891_?)del
|
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|
|
NC_000008.10:g.(?_100568668)_(100568891_?)del
|
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|
|
NC_000008.10:g.(?_100568668)_(100589871_?)del
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|
|
NC_000008.10:g.(?_100568668)_(100654736_?)del
|
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|
NC_000008.10:g.(?_100568668)_(100673729_?)del
|
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)dup
|
|
|
|
NC_000008.10:g.(?_100587866)_(100589881_?)del
|
|
|
|
NC_000008.10:g.(?_100587866)_(100589881_?)dup
|
|
|
|
NC_000008.10:g.(?_100587866)_(100712180_?)del
|
|
|
|
NC_000008.10:g.(?_100654019)_(100673739_?)del
|
|
|
|
NC_000008.10:g.(?_100654019)_(100887894_?)del
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|
|
NC_000008.10:g.(?_100654029)_(100654736_?)del
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|
|
NC_000008.10:g.(?_100654029)_(100654736_?)dup
|
|
|
|
NC_000008.10:g.(?_100654029)_(100673729_?)del
|
|
|
|
NC_000008.10:g.(?_100654029)_(100712170_?)del
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|
|
NC_000008.10:g.(?_100654029)_(100733285_?)del
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|
|
|
NC_000008.10:g.(?_100673562)_(100847986_?)dup
|
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|
|
NC_000008.10:g.(?_100711733)_(100796724_?)del
|
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|
|
NC_000008.10:g.(?_100711743)_(100712170_?)del
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|
|
NC_000008.10:g.(?_100711743)_(100733285_?)del
|
|
|
|
NC_000008.10:g.(?_100778144)_(100779154_?)del
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|
|
NC_000008.10:g.(?_100778992)_(100779208_?)del
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|
|
NC_000008.10:g.(?_100781239)_(100789156_?)del
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|
|
|
NC_000008.10:g.(?_100788983)_(100791279_?)del
|
|
|
|
NC_000008.10:g.(?_100790890)_(100836226_?)dup
|
|
|
|
NC_000008.10:g.(?_100821583)_(100821778_?)del
|
|
|
|
NC_000008.10:g.(?_100821603)_(100821758_?)del
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|
|
|
NC_000008.10:g.(?_100830669)_(100833720_?)del
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|
|
|
NC_000008.10:g.(?_100860984)_(100866504_?)del
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|
|
NC_000008.10:g.(?_100880497)_(100887894_?)del
|
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|
|
NC_000008.10:g.(?_100882993)_(100883945_?)del
|
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|
|
NC_000008.10:g.(?_100882993)_(100883945_?)dup
|
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|
|
NC_000008.10:g.(?_100883666)_(100883935_?)del
|
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|
|
NC_000008.10:g.(?_99135566)_(100205305_?)dup
|
|
|
|
NC_000008.10:g.(?_99135566)_(106815766_?)dup
|
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|
|
NC_000008.10:g.(?_99346108)_(100589843_?)del
|
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|
|
NC_000008.10:g.(?_99594279)_(100513908_?)del
|
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|
|
NC_000008.10:g.100246250_100460500del
|
|
|
|
NC_000008.11:g.(?_99013769)_(99209688_?)del
|
|
|
|
NC_000008.11:g.(?_99013769)_(99875686_?)dup
|
|
|
|
NC_000008.11:g.(?_99096292)_(99156763_?)del
|
|
|
|
NC_000008.11:g.(?_99096292)_(99193077_?)del
|
|
|
|
NC_000008.11:g.(?_99096292)_(99577653_?)del
|
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|
|
NC_000008.11:g.(?_99096302)_(99136762_?)del
|
|
|
|
NC_000008.11:g.(?_99096302)_(99556663_?)del
|
|
|
|
NC_000008.11:g.(?_99096312)_(99148010_?)del
|
|
|
|
NC_000008.11:g.(?_99102933)_(99103140_?)del
|
|
|
|
NC_000008.11:g.(?_99102933)_(99209688_?)del
|
|
|
|
NC_000008.11:g.(?_99102953)_(99170163_?)del
|
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|
|
NC_000008.11:g.(?_99111088)_(99170173_?)del
|
|
|
|
NC_000008.11:g.(?_99115680)_(99193077_?)del
|
|
|
|
NC_000008.11:g.(?_99121157)_(99193077_?)del
|
|
|
|
NC_000008.11:g.(?_99121167)_(99721057_?)del
|
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|
|
NC_000008.11:g.(?_99134612)_(99136772_?)del
|
|
|
|
NC_000008.11:g.(?_99134631)_(99511512_?)dup
|
|
|
|
NC_000008.11:g.(?_99135005)_(99143175_?)del
|
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|
|
NC_000008.11:g.(?_99135015)_(99143165_?)del
|
|
|
|
NC_000008.11:g.(?_99142974)_(99143165_?)del
|
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|
|
NC_000008.11:g.(?_99170039)_(99170163_?)del
|
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|
|
NC_000008.11:g.(?_99192876)_(99209768_?)dup
|
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|
|
NC_000008.11:g.(?_99209572)_(99391724_?)del
|
|
|
|
NC_000008.11:g.(?_99209582)_(99275264_?)del
|
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|
|
NC_000008.11:g.(?_99274178)_(99577653_?)del
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|
NC_000008.11:g.(?_99274178)_(99721067_?)del
|
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|
|
NC_000008.11:g.(?_99384188)_(99511532_?)del
|
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|
|
NC_000008.11:g.(?_99384188)_(99721067_?)del
|
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|
|
NC_000008.11:g.(?_99391537)_(99521030_?)del
|
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|
NC_000008.11:g.(?_99391557)_(99556653_?)del
|
|
|
|
NC_000008.11:g.(?_99431517)_(99721067_?)del
|
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|
|
NC_000008.11:g.(?_99467404)_(99521020_?)del
|
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|
|
NC_000008.11:g.(?_99481579)_(99721067_?)del
|
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|
|
NC_000008.11:g.(?_99501677)_(99502960_?)del
|
|
|
|
NC_000008.11:g.(?_99520889)_(99521020_?)del
|
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|
|
NC_000008.11:g.(?_99520899)_(99584089_?)del
|
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|
|
NC_000008.11:g.(?_99556430)_(99577653_?)del
|
|
|
|
NC_000008.11:g.(?_99556430)_(99642518_?)del
|
|
|
|
NC_000008.11:g.(?_99661334)_(99661511_?)del
|
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|
|
NC_000008.11:g.(?_99661344)_(99784486_?)del
|
|
|
|
NC_000008.11:g.(?_99766774)_(99784476_?)dup
|
|
|
|
NC_000011.10:g.(?_119024900)_(119029379_?)del
|
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|
|
NC_000011.10:g.(?_119028174)_(119029389_?)del
|
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|
NC_000011.9:g.(?_117856768)_(118972385_?)dup
|
|
|
|
NC_000011.9:g.(?_118895600)_(118972385_?)dup
|
|
|
|
NC_000011.9:g.(?_118897293)_(118897825_?)del
|
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|
|
NC_000011.9:g.(?_118899922)_(118900089_?)del
|
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|
|
NC_000015.10:g.(?_55223869)_(55224032_?)del
|
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|
NC_000015.10:g.(?_55223869)_(55234954_?)del
|
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|
|
NC_000015.10:g.(?_55228589)_(55234954_?)del
|
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|
|
NC_000015.10:g.(?_55234762)_(55234954_?)del
|
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|
NC_000015.10:g.55224013del
|
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|
|
NC_000015.9:g.(?_55497685)_(55527152_?)del
|
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|
|
NC_000015.9:g.(?_55497685)_(55527152_?)dup
|
|
|
|
NC_000015.9:g.(?_55497705)_(55727276_?)dup
|
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|
|
NC_000015.9:g.(?_55520787)_(55522704_?)del
|
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|
NC_000015.9:g.(?_55522579)_(55522704_?)del
|
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|
NC_000015.9:g.(?_55526960)_(55613608_?)del
|
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|
NC_000015.9:g.55514530_55552423dup
|
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|
|
NC_000017.10:g.(?_42151508)_(42153411_?)del
|
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|
|
NC_000017.10:g.(?_42151508)_(42153411_?)dup
|
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|
NC_000017.10:g.(?_42151521)_42160591dup
|
|
|
|
NC_000017.11:g.(76070445_76072307)_(76072518_?)del
|
|
|
|
NC_000019.10:g.(?_852288)_(856184_?)del
|
|
|
|
NC_000019.9:g.(?_589946)_(2151333_?)dup
|
|
|
|
NC_000019.9:g.(?_852326)_(856164_?)dup
|
|
|
|
NC_000019.9:g.(?_852329)_(853423_?)del
|
|
|
|
NC_000019.9:g.(?_852329)_(855814_?)dup
|
|
|
|
NC_000019.9:g.(?_855544)_(856164_?)del
|
|
|
|
NC_000019.9:g.(?_855938)_(856184_?)dup
|
|
|
|
NC_000023.10:g.(?_152014869)_(155171615_?)del
|
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|
|
NC_000023.10:g.(?_152954030)_(154005142_?)del
|
|
|
|
NC_000023.10:g.(?_153592370)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153639844)_(153642537_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)del
|
|
|
|
NC_000023.10:g.(?_153640161)_(153649363_?)dup
|
|
|
|
NC_000023.10:g.(?_153640181)_(153641904_?)del
|
|
|
|
NC_000023.10:g.(?_153640181)_(153642547_?)dup
|
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
|
NC_000023.10:g.(?_153641545)_(153648084_?)dup
|
|
|
|
NC_000023.10:g.(?_153647862)_(153649343_?)dup
|
|
|
|
NC_000023.10:g.(?_153647872)_(153650075_?)del
|
|
|
|
NC_000023.10:g.(?_46618120)_(48549553_?)del
|
|
|
|
NC_000023.10:g.(?_48368209)_(51241672_?)dup
|
|
|
|
NC_000023.10:g.(?_48542223)_(48549573_?)dup
|
|
|
|
NC_000023.10:g.(?_48542233)_(48542384_?)del
|
|
|
|
NC_000023.10:g.(?_48542243)_(48549553_?)dup
|
|
|
|
NC_000023.10:g.(?_48549478)_(48549573_?)dup
|
|
|
|
NG_007098.2:g.(809539_810185)_(813218_815566)del
|
|
|
|
NG_007098.2:g.(94856_102832)_(161899_184610)del
|
|
|
|
NG_009103.1:g.(13486_?)_(?_81610)del
|
|
|
|
NM_000081.2(LYST):c.7060_7066delCTATTAG
|
rs80338661
|
|
|
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
|
|
|
|
NM_000081.4(LYST):c.*1211G>A
|
|
|
|
NM_000081.4(LYST):c.*1275T>C
|
|
|
|
NM_000081.4(LYST):c.*1295T>C
|
|
|
|
NM_000081.4(LYST):c.*1356G>T
|
|
|
|
NM_000081.4(LYST):c.*1379G>C
|
|
|
|
NM_000081.4(LYST):c.*1428T>G
|
|
|
|
NM_000081.4(LYST):c.*1438C>T
|
|
|
|
NM_000081.4(LYST):c.*1499G>T
|
|
|
|
NM_000081.4(LYST):c.*1533G>A
|
|
|
|
NM_000081.4(LYST):c.*1723A>G
|
|
|
|
NM_000081.4(LYST):c.*1792A>G
|
|
|
|
NM_000081.4(LYST):c.*1831A>C
|
|
|
|
NM_000081.4(LYST):c.*1861C>A
|
|
|
|
NM_000081.4(LYST):c.*191T>C
|
|
|
|
NM_000081.4(LYST):c.*246C>T
|
|
|
|
NM_000081.4(LYST):c.*247G>T
|
|
|
|
NM_000081.4(LYST):c.*275A>T
|
|
|
|
NM_000081.4(LYST):c.*319C>G
|
|
|
|
NM_000081.4(LYST):c.*329A>G
|
|
|
|
NM_000081.4(LYST):c.*446T>C
|
|
|
|
NM_000081.4(LYST):c.*519C>T
|
|
|
|
NM_000081.4(LYST):c.*5G>A
|
|
|
|
NM_000081.4(LYST):c.*685G>T
|
|
|
|
NM_000081.4(LYST):c.*694T>C
|
|
|
|
NM_000081.4(LYST):c.*712T>C
|
|
|
|
NM_000081.4(LYST):c.*725G>A
|
|
|
|
NM_000081.4(LYST):c.*809A>G
|
|
|
|
NM_000081.4(LYST):c.*824A>G
|
|
|
|
NM_000081.4(LYST):c.*831A>G
|
|
|
|
NM_000081.4(LYST):c.*873G>C
|
|
|
|
NM_000081.4(LYST):c.*891G>C
|
|
|
|
NM_000081.4(LYST):c.*907G>A
|
|
|
|
NM_000081.4(LYST):c.*921C>T
|
|
|
|
NM_000081.4(LYST):c.*94A>G
|
|
|
|
NM_000081.4(LYST):c.*962G>A
|
|
|
|
NM_000081.4(LYST):c.-131G>C
|
|
|
|
NM_000081.4(LYST):c.-134G>A
|
|
|
|
NM_000081.4(LYST):c.-134G>C
|
|
|
|
NM_000081.4(LYST):c.-136G>A
|
|
|
|
NM_000081.4(LYST):c.-139G>A
|
|
|
|
NM_000081.4(LYST):c.-140G>C
|
|
|
|
NM_000081.4(LYST):c.-142C>T
|
|
|
|
NM_000081.4(LYST):c.-7-14T>C
|
|
|
|
NM_000081.4(LYST):c.-97-13dup
|
|
|
|
NM_000081.4(LYST):c.-97-9T>G
|
|
|
|
NM_000081.4(LYST):c.10002T>C (p.Pro3334=)
|
|
|
|
NM_000081.4(LYST):c.10003C>T (p.Arg3335Cys)
|
|
|
|
NM_000081.4(LYST):c.10014C>A (p.Ile3338=)
|
|
|
|
NM_000081.4(LYST):c.10025G>A (p.Arg3342Gln)
|
|
|
|
NM_000081.4(LYST):c.10026G>A (p.Arg3342=)
|
|
|
|
NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)
|
|
|
|
NM_000081.4(LYST):c.10029G>A (p.Gln3343=)
|
|
|
|
NM_000081.4(LYST):c.10032T>C (p.Ala3344=)
|
|
|
|
NM_000081.4(LYST):c.10033C>G (p.Leu3345Val)
|
|
|
|
NM_000081.4(LYST):c.10035A>G (p.Leu3345=)
|
|
|
|
NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)
|
|
|
|
NM_000081.4(LYST):c.10047C>T (p.Tyr3349=)
|
|
|
|
NM_000081.4(LYST):c.10056G>A (p.Gln3352=)
|
|
|
|
NM_000081.4(LYST):c.1005G>C (p.Leu335=)
|
|
|
|
NM_000081.4(LYST):c.10060A>G (p.Ile3354Val)
|
|
|
|
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
|
|
|
|
NM_000081.4(LYST):c.10072A>G (p.Ile3358Val)
|
|
|
|
NM_000081.4(LYST):c.10078T>C (p.Leu3360=)
|
|
|
|
NM_000081.4(LYST):c.10083del (p.Phe3362fs)
|
|
|
|
NM_000081.4(LYST):c.10089G>T (p.Gly3363=)
|
|
|
|
NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)
|
|
|
|
NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn)
|
|
|
|
NM_000081.4(LYST):c.100GAG[2] (p.Glu36del)
|
|
|
|
NM_000081.4(LYST):c.10100del (p.Lys3367fs)
|
|
|
|
NM_000081.4(LYST):c.10101G>A (p.Lys3367=)
|
|
|
|
NM_000081.4(LYST):c.10106A>G (p.Lys3369Arg)
|
|
|
|
NM_000081.4(LYST):c.10108G>C (p.Ala3370Pro)
|
|
|
|
NM_000081.4(LYST):c.10122G>A (p.Ala3374=)
|
|
|
|
NM_000081.4(LYST):c.10123A>G (p.Ile3375Val)
|
|
|
|
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)
|
rs80338669
|
|
|
NM_000081.4(LYST):c.10131T>A (p.Val3377=)
|
|
|
|
NM_000081.4(LYST):c.1013A>G (p.Asp338Gly)
|
|
|
|
NM_000081.4(LYST):c.10143+14_10143+15del
|
|
|
|
NM_000081.4(LYST):c.10143+15dup
|
|
|
|
NM_000081.4(LYST):c.10143+20C>G
|
|
|
|
NM_000081.4(LYST):c.10143+20C>T
|
|
|
|
NM_000081.4(LYST):c.10143+6T>G
|
|
|
|
NM_000081.4(LYST):c.10143+7G>A
|
|
|
|
NM_000081.4(LYST):c.10144-22_10144-19del
|
|
|
|
NM_000081.4(LYST):c.10144-4G>A
|
|
|
|
NM_000081.4(LYST):c.10144-5T>C
|
|
|
|
NM_000081.4(LYST):c.10144-6C>T
|
|
|
|
NM_000081.4(LYST):c.10144A>G (p.Thr3382Ala)
|
|
|
|
NM_000081.4(LYST):c.10146A>C (p.Thr3382=)
|
|
|
|
NM_000081.4(LYST):c.10146A>G (p.Thr3382=)
|
|
|
|
NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)
|
|
|
|
NM_000081.4(LYST):c.10156del (p.Met3386fs)
|
|
|
|
NM_000081.4(LYST):c.10159G>A (p.Asp3387Asn)
|
|
|
|
NM_000081.4(LYST):c.10170A>G (p.Ala3390=)
|
|
|
|
NM_000081.4(LYST):c.10174G>A (p.Glu3392Lys)
|
|
|
|
NM_000081.4(LYST):c.10186C>G (p.Gln3396Glu)
|
|
|
|
NM_000081.4(LYST):c.10193G>A (p.Arg3398Gln)
|
|
|
|
NM_000081.4(LYST):c.10197G>A (p.Ala3399=)
|
|
|
|
NM_000081.4(LYST):c.10197G>T (p.Ala3399=)
|
|
|
|
NM_000081.4(LYST):c.1019del (p.Ser340fs)
|
|
|
|
NM_000081.4(LYST):c.10203A>G (p.Glu3401=)
|
|
|
|
NM_000081.4(LYST):c.10206del (p.Thr3402_Met3403insTer)
|
|
|
|
NM_000081.4(LYST):c.1020T>C (p.Ser340=)
|
|
|
|
NM_000081.4(LYST):c.10211T>C (p.Ile3404Thr)
|
|
|
|
NM_000081.4(LYST):c.10230T>A (p.Thr3410=)
|
|
|
|
NM_000081.4(LYST):c.10234C>T (p.Arg3412Cys)
|
|
|
|
NM_000081.4(LYST):c.1023T>C (p.Thr341=)
|
|
|
|
NM_000081.4(LYST):c.10246C>T (p.His3416Tyr)
|
|
|
|
NM_000081.4(LYST):c.10248C>G (p.His3416Gln)
|
|
|
|
NM_000081.4(LYST):c.1024G>A (p.Ala342Thr)
|
|
|
|
NM_000081.4(LYST):c.10253C>T (p.Ala3418Val)
|
|
|
|
NM_000081.4(LYST):c.10254C>G (p.Ala3418=)
|
|
|
|
NM_000081.4(LYST):c.10254C>T (p.Ala3418=)
|
|
|
|
NM_000081.4(LYST):c.10257T>C (p.His3419=)
|
|
|
|
NM_000081.4(LYST):c.10262G>A (p.Ser3421Asn)
|
|
|
|
NM_000081.4(LYST):c.10269_10275del (p.Gly3424fs)
|
|
|
|
NM_000081.4(LYST):c.10275C>G (p.Ala3425=)
|
|
|
|
NM_000081.4(LYST):c.10283A>G (p.Asn3428Ser)
|
|
|
|
NM_000081.4(LYST):c.10284T>C (p.Asn3428=)
|
|
|
|
NM_000081.4(LYST):c.10285A>G (p.Ile3429Val)
|
|
|
|
NM_000081.4(LYST):c.10286T>C (p.Ile3429Thr)
|
|
|
|
NM_000081.4(LYST):c.10308T>C (p.Ala3436=)
|
|
|
|
NM_000081.4(LYST):c.10317G>T (p.Leu3439Phe)
|
|
|
|
NM_000081.4(LYST):c.10321G>A (p.Val3441Met)
|
|
|
|
NM_000081.4(LYST):c.10338G>A (p.Arg3446=)
|
|
|
|
NM_000081.4(LYST):c.10341G>A (p.Glu3447=)
|
|
|
|
NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)
|
rs754616030
|
|
|
NM_000081.4(LYST):c.10346G>A (p.Arg3449Gln)
|
|
|
|
NM_000081.4(LYST):c.10347A>T (p.Arg3449=)
|
rs1572031961
|
|
|
NM_000081.4(LYST):c.10352A>G (p.Gln3451Arg)
|
|
|
|
NM_000081.4(LYST):c.10356C>G (p.Val3452=)
|
|
|
|
NM_000081.4(LYST):c.10360G>T (p.Glu3454Ter)
|
|
|
|
NM_000081.4(LYST):c.10362A>G (p.Glu3454=)
|
|
|
|
NM_000081.4(LYST):c.10366A>G (p.Thr3456Ala)
|
|
|
|
NM_000081.4(LYST):c.10370A>G (p.Tyr3457Cys)
|
|
|
|
NM_000081.4(LYST):c.10372C>A (p.Pro3458Thr)
|
|
|
|
NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)
|
|
|
|
NM_000081.4(LYST):c.10373C>T (p.Pro3458Leu)
|
|
|
|
NM_000081.4(LYST):c.10374+20A>G
|
|
|
|
NM_000081.4(LYST):c.10374G>A (p.Pro3458=)
|
rs1661644862
|
|
|
NM_000081.4(LYST):c.10375-10_10375-8del
|
|
|
|
NM_000081.4(LYST):c.10375-13T>G
|
|
|
|
NM_000081.4(LYST):c.10375-17_10375-9dup
|
|
|
|
NM_000081.4(LYST):c.10375-20T>C
|
|
|
|
NM_000081.4(LYST):c.10375-7A>G
|
|
|
|
NM_000081.4(LYST):c.10375-8C>T
|
|
|
|
NM_000081.4(LYST):c.10386A>C (p.Ser3462=)
|
|
|
|
NM_000081.4(LYST):c.10386A>G (p.Ser3462=)
|
|
|
|
NM_000081.4(LYST):c.10392A>G (p.Ile3464Met)
|
|
|
|
NM_000081.4(LYST):c.10395del (p.Gly3466fs)
|
rs80338670
|
|
|
NM_000081.4(LYST):c.10397G>C (p.Gly3466Ala)
|
|
|
|
NM_000081.4(LYST):c.10397G>T (p.Gly3466Val)
|
|
|
|
NM_000081.4(LYST):c.10401G>A (p.Leu3467=)
|
|
|
|
NM_000081.4(LYST):c.10411dup (p.Glu3471fs)
|
|
|
|
NM_000081.4(LYST):c.10413A>G (p.Glu3471=)
|
|
|
|
NM_000081.4(LYST):c.10414T>C (p.Tyr3472His)
|
|
|
|
NM_000081.4(LYST):c.10415A>T (p.Tyr3472Phe)
|
|
|
|
NM_000081.4(LYST):c.10417G>A (p.Val3473Met)
|
|
|
|
NM_000081.4(LYST):c.10425C>T (p.Ser3475=)
|
|
|
|
NM_000081.4(LYST):c.10428C>T (p.Pro3476=)
|
|
|
|
NM_000081.4(LYST):c.10430G>T (p.Ser3477Ile)
|
|
|
|
NM_000081.4(LYST):c.10435C>G (p.Pro3479Ala)
|
|
|
|
NM_000081.4(LYST):c.10435C>T (p.Pro3479Ser)
|
|
|
|
NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)
|
|
|
|
NM_000081.4(LYST):c.10444G>A (p.Val3482Met)
|
|
|
|
NM_000081.4(LYST):c.10457G>C (p.Ser3486Thr)
|
|
|
|
NM_000081.4(LYST):c.10457G>T (p.Ser3486Ile)
|
|
|
|
NM_000081.4(LYST):c.10459C>G (p.Gln3487Glu)
|
|
|
|
NM_000081.4(LYST):c.10466A>G (p.His3489Arg)
|
|
|
|
NM_000081.4(LYST):c.10467C>T (p.His3489=)
|
|
|
|
NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)
|
|
|
|
NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)
|
|
|
|
NM_000081.4(LYST):c.10470A>G (p.Gly3490=)
|
|
|
|
NM_000081.4(LYST):c.10475G>T (p.Arg3492Ile)
|
|
|
|
NM_000081.4(LYST):c.10478T>A (p.Phe3493Tyr)
|
|
|
|
NM_000081.4(LYST):c.1047T>C (p.Leu349=)
|
|
|
|
NM_000081.4(LYST):c.10480G>T (p.Gly3494Cys)
|
|
|
|
NM_000081.4(LYST):c.10483T>A (p.Ser3495Thr)
|
|
|
|
NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)
|
|
|
|
NM_000081.4(LYST):c.10492G>C (p.Ala3498Pro)
|
rs1222770569
|
|
|
NM_000081.4(LYST):c.10495C>T (p.Leu3499=)
|
|
|
|
NM_000081.4(LYST):c.10500C>T (p.Pro3500=)
|
|
|
|
NM_000081.4(LYST):c.10501A>G (p.Thr3501Ala)
|
|
|
|
NM_000081.4(LYST):c.10502C>T (p.Thr3501Ile)
|
|
|
|
NM_000081.4(LYST):c.10503C>T (p.Thr3501=)
|
|
|
|
NM_000081.4(LYST):c.10507G>A (p.Ala3503Thr)
|
|
|
|
NM_000081.4(LYST):c.10508C>T (p.Ala3503Val)
|
|
|
|
NM_000081.4(LYST):c.10509A>G (p.Ala3503=)
|
|
|
|
NM_000081.4(LYST):c.1050_1058dup (p.Lys351_Leu353dup)
|
|
|
|
NM_000081.4(LYST):c.1050del (p.Asn352fs)
|
|
|
|
NM_000081.4(LYST):c.10510A>G (p.Ile3504Val)
|
|
|
|
NM_000081.4(LYST):c.10512C>A (p.Ile3504=)
|
|
|
|
NM_000081.4(LYST):c.10525C>A (p.Arg3509=)
|
|
|
|
NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)
|
|
|
|
NM_000081.4(LYST):c.10526G>T (p.Arg3509Leu)
|
|
|
|
NM_000081.4(LYST):c.1053A>G (p.Lys351=)
|
|
|
|
NM_000081.4(LYST):c.10542G>C (p.Leu3514=)
|
|
|
|
NM_000081.4(LYST):c.10548A>G (p.Thr3516=)
|
|
|
|
NM_000081.4(LYST):c.10560A>G (p.Glu3520=)
|
|
|
|
NM_000081.4(LYST):c.10564+12T>C
|
|
|
|
NM_000081.4(LYST):c.10564+13G>T
|
|
|
|
NM_000081.4(LYST):c.10564+14dup
|
|
|
|
NM_000081.4(LYST):c.10564+17C>T
|
|
|
|
NM_000081.4(LYST):c.10564+18G>A
|
|
|
|
NM_000081.4(LYST):c.10565-18T>C
|
|
|
|
NM_000081.4(LYST):c.10565-20T>A
|
|
|
|
NM_000081.4(LYST):c.10565-20T>C
|
|
|
|
NM_000081.4(LYST):c.10565-20del
|
|
|
|
NM_000081.4(LYST):c.10565-6C>T
|
|
|
|
NM_000081.4(LYST):c.10565-9C>T
|
|
|
|
NM_000081.4(LYST):c.10565G>A (p.Gly3522Asp)
|
|
|
|
NM_000081.4(LYST):c.10566T>C (p.Gly3522=)
|
|
|
|
NM_000081.4(LYST):c.10568_10569del (p.Val3523fs)
|
|
|
|
NM_000081.4(LYST):c.10576A>G (p.Met3526Val)
|
|
|
|
NM_000081.4(LYST):c.1057T>C (p.Leu353=)
|
|
|
|
NM_000081.4(LYST):c.1057T>G (p.Leu353Val)
|
|
|
|
NM_000081.4(LYST):c.10581C>G (p.Asn3527Lys)
|
|
|
|
NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)
|
|
|
|
NM_000081.4(LYST):c.10587G>A (p.Thr3529=)
|
|
|
|
NM_000081.4(LYST):c.10593T>C (p.Ile3531=)
|
|
|
|
NM_000081.4(LYST):c.105G>A (p.Glu35=)
|
|
|
|
NM_000081.4(LYST):c.10601C>A (p.Ser3534Ter)
|
|
|
|
NM_000081.4(LYST):c.10604C>T (p.Ala3535Val)
|
|
|
|
NM_000081.4(LYST):c.10610T>G (p.Leu3537Arg)
|
|
|
|
NM_000081.4(LYST):c.10620A>T (p.Gly3540=)
|
|
|
|
NM_000081.4(LYST):c.10629T>C (p.Asp3543=)
|
|
|
|
NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)
|
|
|
|
NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)
|
|
|
|
NM_000081.4(LYST):c.10649G>C (p.Ser3550Thr)
|
|
|
|
NM_000081.4(LYST):c.10654del (p.Gln3552fs)
|
|
|
|
NM_000081.4(LYST):c.10656A>G (p.Gln3552=)
|
|
|
|
NM_000081.4(LYST):c.10657A>G (p.Ser3553Gly)
|
|
|
|
NM_000081.4(LYST):c.1065A>G (p.Glu355=)
|
|
|
|
NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)
|
|
|
|
NM_000081.4(LYST):c.10664C>T (p.Pro3555Leu)
|
|
|
|
NM_000081.4(LYST):c.10668A>G (p.Pro3556=)
|
|
|
|
NM_000081.4(LYST):c.10669G>A (p.Val3557Ile)
|
|
|
|
NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)
|
|
|
|
NM_000081.4(LYST):c.10677T>C (p.Phe3559=)
|
|
|
|
NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)
|
|
|
|
NM_000081.4(LYST):c.10683A>G (p.Gln3561=)
|
|
|
|
NM_000081.4(LYST):c.10684A>C (p.Ser3562Arg)
|
|
|
|
NM_000081.4(LYST):c.10686T>C (p.Ser3562=)
|
|
|
|
NM_000081.4(LYST):c.10691A>G (p.Gln3564Arg)
|
|
|
|
NM_000081.4(LYST):c.10692A>G (p.Gln3564=)
|
|
|
|
NM_000081.4(LYST):c.106G>T (p.Glu36Ter)
|
|
|
|
NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)
|
|
|
|
NM_000081.4(LYST):c.10701+11T>G
|
|
|
|
NM_000081.4(LYST):c.10701+15T>G
|
|
|
|
NM_000081.4(LYST):c.10701+18T>G
|
|
|
|
NM_000081.4(LYST):c.10701+20T>C
|
|
|
|
NM_000081.4(LYST):c.10701+8C>T
|
|
|
|
NM_000081.4(LYST):c.10702-17T>C
|
|
|
|
NM_000081.4(LYST):c.10702-18_10702-15del
|
|
|
|
NM_000081.4(LYST):c.10702-19G>A
|
|
|
|
NM_000081.4(LYST):c.10702-19G>C
|
|
|
|
NM_000081.4(LYST):c.10702-19G>T
|
|
|
|
NM_000081.4(LYST):c.10702G>C (p.Val3568Leu)
|
|
|
|
NM_000081.4(LYST):c.10705A>G (p.Thr3569Ala)
|
|
|
|
NM_000081.4(LYST):c.10707T>C (p.Thr3569=)
|
|
|
|
NM_000081.4(LYST):c.10708A>G (p.Ser3570Gly)
|
|
|
|
NM_000081.4(LYST):c.1071T>C (p.Leu357=)
|
|
|
|
NM_000081.4(LYST):c.10723C>T (p.Pro3575Ser)
|
|
|
|
NM_000081.4(LYST):c.10726G>A (p.Asp3576Asn)
|
|
|
|
NM_000081.4(LYST):c.10733G>T (p.Cys3578Phe)
|
|
|
|
NM_000081.4(LYST):c.10734C>G (p.Cys3578Trp)
|
|
|
|
NM_000081.4(LYST):c.1073G>C (p.Arg358Thr)
|
|
|
|
NM_000081.4(LYST):c.10740G>A (p.Leu3580=)
|
|
|
|
NM_000081.4(LYST):c.10743T>C (p.Phe3581=)
|
|
|
|
NM_000081.4(LYST):c.10744A>G (p.Thr3582Ala)
|
|
|
|
NM_000081.4(LYST):c.10749A>G (p.Gly3583=)
|
|
|
|
NM_000081.4(LYST):c.10756T>G (p.Cys3586Gly)
|
|
|
|
NM_000081.4(LYST):c.10759G>A (p.Gly3587Ser)
|
|
|
|
NM_000081.4(LYST):c.10778C>G (p.Thr3593Arg)
|
|
|
|
NM_000081.4(LYST):c.10799C>T (p.Thr3600Met)
|
|
|
|
NM_000081.4(LYST):c.1079C>G (p.Ala360Gly)
|
|
|
|
NM_000081.4(LYST):c.1079C>T (p.Ala360Val)
|
|
|
|
NM_000081.4(LYST):c.10800+11G>A
|
|
|
|
NM_000081.4(LYST):c.10800+12G>A
|
|
|
|
NM_000081.4(LYST):c.10800+14T>A
|
|
|
|
NM_000081.4(LYST):c.10801-10A>T
|
|
|
|
NM_000081.4(LYST):c.10801-19C>A
|
|
|
|
NM_000081.4(LYST):c.10801-20A>T
|
|
|
|
NM_000081.4(LYST):c.10801-7A>C
|
|
|
|
NM_000081.4(LYST):c.10812del (p.Ile3604fs)
|
|
|
|
NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)
|
|
|
|
NM_000081.4(LYST):c.10816A>T (p.Met3606Leu)
|
|
|
|
NM_000081.4(LYST):c.10817T>C (p.Met3606Thr)
|
|
|
|
NM_000081.4(LYST):c.10822A>G (p.Thr3608Ala)
|
|
|
|
NM_000081.4(LYST):c.10823C>G (p.Thr3608Ser)
|
|
|
|
NM_000081.4(LYST):c.1082_1083insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATCTTGGCTCCTCCCTCTAGAGCAGCTTT (p.Leu361delinsPhePhePhePhePhePhePheXaaXaaXaaXaaValPheCysValAlaHisAlaGlySerCysArgProGluLeuPheLeuPheGlyHisLeuGlySerSerLeuTer)
|
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|
NM_000081.4(LYST):c.10834C>G (p.Leu3612Val)
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|
|
|
NM_000081.4(LYST):c.10838A>G (p.Tyr3613Cys)
|
|
|
|
NM_000081.4(LYST):c.10839T>C (p.Tyr3613=)
|
|
|
|
NM_000081.4(LYST):c.10847C>A (p.Thr3616Lys)
|
|
|
|
NM_000081.4(LYST):c.10848A>G (p.Thr3616=)
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|
|
|
NM_000081.4(LYST):c.10863C>T (p.Ser3621=)
|
|
|
|
NM_000081.4(LYST):c.10869T>C (p.Phe3623=)
|
|
|
|
NM_000081.4(LYST):c.10881A>G (p.Pro3627=)
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|
|
|
NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)
|
|
|
|
NM_000081.4(LYST):c.10893G>C (p.Leu3631=)
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|
|
|
NM_000081.4(LYST):c.10900G>A (p.Val3634Met)
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|
|
|
NM_000081.4(LYST):c.10911C>T (p.Asp3637=)
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|
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|
NM_000081.4(LYST):c.10916C>G (p.Thr3639Ser)
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|
|
|
NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile)
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|
NM_000081.4(LYST):c.10921A>G (p.Ile3641Val)
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|
NM_000081.4(LYST):c.10924A>C (p.Ile3642Leu)
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|
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NM_000081.4(LYST):c.10927T>C (p.Trp3643Arg)
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|
NM_000081.4(LYST):c.10940+10_10940+12del
|
rs1659473887
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NM_000081.4(LYST):c.10940+11A>T
|
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NM_000081.4(LYST):c.10940+20A>G
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NM_000081.4(LYST):c.10940+6G>A
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NM_000081.4(LYST):c.10941-14C>G
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NM_000081.4(LYST):c.10941-18A>G
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NM_000081.4(LYST):c.10941-18A>T
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NM_000081.4(LYST):c.10941-19C>A
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NM_000081.4(LYST):c.10941-8dup
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NM_000081.4(LYST):c.10941G>C (p.Arg3647Ser)
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|
NM_000081.4(LYST):c.10950T>C (p.Tyr3650=)
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NM_000081.4(LYST):c.10953A>G (p.Val3651=)
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NM_000081.4(LYST):c.10955A>G (p.Gln3652Arg)
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|
NM_000081.4(LYST):c.10962G>A (p.Leu3654=)
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|
NM_000081.4(LYST):c.10964C>T (p.Ala3655Val)
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|
NM_000081.4(LYST):c.10965G>A (p.Ala3655=)
|
rs762254542
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NM_000081.4(LYST):c.10978C>T (p.Pro3660Ser)
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|
NM_000081.4(LYST):c.10981G>A (p.Val3661Ile)
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NM_000081.4(LYST):c.10986A>C (p.Thr3662=)
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|
NM_000081.4(LYST):c.10989T>C (p.Ala3663=)
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NM_000081.4(LYST):c.10994C>A (p.Ser3665Tyr)
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NM_000081.4(LYST):c.109A>G (p.Thr37Ala)
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|
NM_000081.4(LYST):c.10G>A (p.Asp4Asn)
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NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)
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|
NM_000081.4(LYST):c.1100T>G (p.Leu367Arg)
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|
NM_000081.4(LYST):c.11013T>G (p.Gly3671=)
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|
NM_000081.4(LYST):c.11017A>G (p.Ile3673Val)
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|
NM_000081.4(LYST):c.1101A>G (p.Leu367=)
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|
|
NM_000081.4(LYST):c.11022T>G (p.Ala3674=)
|
|
|
|
NM_000081.4(LYST):c.11038+10C>T
|
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|
|
NM_000081.4(LYST):c.11038+11T>C
|
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|
NM_000081.4(LYST):c.11038+13C>G
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|
|
NM_000081.4(LYST):c.11038+13C>T
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|
NM_000081.4(LYST):c.11038+17C>T
|
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|
NM_000081.4(LYST):c.11038+18C>A
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NM_000081.4(LYST):c.11039-11G>C
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|
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NM_000081.4(LYST):c.11039-12T>C
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|
NM_000081.4(LYST):c.11039-14T>C
|
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|
NM_000081.4(LYST):c.11039-15A>G
|
|
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NM_000081.4(LYST):c.11039-20G>A
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|
NM_000081.4(LYST):c.11043C>T (p.Gly3681=)
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|
|
NM_000081.4(LYST):c.11044G>A (p.Gly3682Arg)
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|
|
|
NM_000081.4(LYST):c.11070G>A (p.Thr3690=)
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|
|
|
NM_000081.4(LYST):c.11076C>T (p.Asn3692=)
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|
|
|
NM_000081.4(LYST):c.11077G>A (p.Gly3693Arg)
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|
|
|
NM_000081.4(LYST):c.11079G>T (p.Gly3693=)
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|
|
|
NM_000081.4(LYST):c.1107G>A (p.Lys369=)
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|
NM_000081.4(LYST):c.11080G>T (p.Asp3694Tyr)
|
|
|
|
NM_000081.4(LYST):c.11087T>C (p.Val3696Ala)
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|
|
|
NM_000081.4(LYST):c.11094T>C (p.His3698=)
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|
|
NM_000081.4(LYST):c.1109A>G (p.Gln370Arg)
|
|
|
|
NM_000081.4(LYST):c.11101T>G (p.Cys3701Gly)
|
rs1658277094
|
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NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
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|
NM_000081.4(LYST):c.1110G>A (p.Gln370=)
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|
NM_000081.4(LYST):c.11115C>G (p.Ile3705Met)
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|
NM_000081.4(LYST):c.11117G>A (p.Cys3706Tyr)
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|
|
|
NM_000081.4(LYST):c.1111C>G (p.Pro371Ala)
|
|
|
|
NM_000081.4(LYST):c.1111C>T (p.Pro371Ser)
|
|
|
|
NM_000081.4(LYST):c.11121C>T (p.Ser3707=)
|
|
|
|
NM_000081.4(LYST):c.11122G>A (p.Val3708Met)
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|
|
|
NM_000081.4(LYST):c.11135A>G (p.Asn3712Ser)
|
|
|
|
NM_000081.4(LYST):c.11137C>G (p.Gln3713Glu)
|
|
|
|
NM_000081.4(LYST):c.11151A>G (p.Val3717=)
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|
|
|
NM_000081.4(LYST):c.11155A>G (p.Ile3719Val)
|
|
|
|
NM_000081.4(LYST):c.11166C>T (p.Ile3722=)
|
|
|
|
NM_000081.4(LYST):c.11167G>A (p.Ala3723Thr)
|
|
|
|
NM_000081.4(LYST):c.11167G>T (p.Ala3723Ser)
|
|
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|
NM_000081.4(LYST):c.11168C>T (p.Ala3723Val)
|
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|
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
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|
NM_000081.4(LYST):c.11187A>C (p.Gly3729=)
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|
NM_000081.4(LYST):c.11189T>C (p.Ile3730Thr)
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|
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|
NM_000081.4(LYST):c.11190T>C (p.Ile3730=)
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|
NM_000081.4(LYST):c.11195+10_11195+16del
|
|
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|
NM_000081.4(LYST):c.11195+11T>C
|
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|
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NM_000081.4(LYST):c.11195+14G>T
|
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|
NM_000081.4(LYST):c.11195+15G>T
|
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|
|
NM_000081.4(LYST):c.11196-10T>C
|
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|
NM_000081.4(LYST):c.11196-10del
|
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|
|
NM_000081.4(LYST):c.11196-10dup
|
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|
NM_000081.4(LYST):c.11196-15T>G
|
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|
NM_000081.4(LYST):c.11196-17A>G
|
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|
NM_000081.4(LYST):c.11196-17del
|
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NM_000081.4(LYST):c.11196-18G>T
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|
NM_000081.4(LYST):c.11196-20A>G
|
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|
NM_000081.4(LYST):c.11196-9C>G
|
|
|
|
NM_000081.4(LYST):c.11212G>A (p.Asp3738Asn)
|
|
|
|
NM_000081.4(LYST):c.11220G>A (p.Lys3740=)
|
|
|
|
NM_000081.4(LYST):c.11229A>G (p.Arg3743=)
|
|
|
|
NM_000081.4(LYST):c.1122T>C (p.Phe374=)
|
|
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|
NM_000081.4(LYST):c.1122T>G (p.Phe374Leu)
|
|
|
|
NM_000081.4(LYST):c.1123G>A (p.Ala375Thr)
|
|
|
|
NM_000081.4(LYST):c.11244C>A (p.Pro3748=)
|
|
|
|
NM_000081.4(LYST):c.11244C>T (p.Pro3748=)
|
|
|
|
NM_000081.4(LYST):c.1124C>T (p.Ala375Val)
|
|
|
|
NM_000081.4(LYST):c.1125A>G (p.Ala375=)
|
|
|
|
NM_000081.4(LYST):c.11265C>T (p.Ile3755=)
|
|
|
|
NM_000081.4(LYST):c.11267+10T>C
|
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|
|
NM_000081.4(LYST):c.11267+12T>G
|
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|
|
NM_000081.4(LYST):c.11267+13C>T
|
|
|
|
NM_000081.4(LYST):c.11267+17C>A
|
|
|
|
NM_000081.4(LYST):c.11267+17C>G
|
|
|
|
NM_000081.4(LYST):c.11267+17C>T
|
|
|
|
NM_000081.4(LYST):c.11267+18del
|
|
|
|
NM_000081.4(LYST):c.11267+20T>G
|
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|
|
NM_000081.4(LYST):c.11267+3A>G
|
|
|
|
NM_000081.4(LYST):c.11268-11T>A
|
|
|
|
NM_000081.4(LYST):c.11268-13T>C
|
|
|
|
NM_000081.4(LYST):c.11268-15T>C
|
|
|
|
NM_000081.4(LYST):c.11268-17T>A
|
|
|
|
NM_000081.4(LYST):c.11268-17T>C
|
|
|
|
NM_000081.4(LYST):c.11268-17dup
|
rs36014994
|
|
|
NM_000081.4(LYST):c.11268-18A>T
|
|
|
|
NM_000081.4(LYST):c.11268-18del
|
|
|
|
NM_000081.4(LYST):c.11268-5del
|
rs36014994
|
|
|
NM_000081.4(LYST):c.11268-6_11268-5del
|
rs36014994
|
|
|
NM_000081.4(LYST):c.11268-9T>C
|
|
|
|
NM_000081.4(LYST):c.11268C>G (p.Ser3756Arg)
|
|
|
|
NM_000081.4(LYST):c.1126C>A (p.Pro376Thr)
|
|
|
|
NM_000081.4(LYST):c.1126C>T (p.Pro376Ser)
|
|
|
|
NM_000081.4(LYST):c.11274A>T (p.Thr3758=)
|
|
|
|
NM_000081.4(LYST):c.11278T>C (p.Ser3760Pro)
|
|
|
|
NM_000081.4(LYST):c.11289C>G (p.Gly3763=)
|
|
|
|
NM_000081.4(LYST):c.11289C>T (p.Gly3763=)
|
|
|
|
NM_000081.4(LYST):c.1129A>C (p.Arg377=)
|
|
|
|
NM_000081.4(LYST):c.112C>T (p.His38Tyr)
|
|
|
|
NM_000081.4(LYST):c.11300A>T (p.Tyr3767Phe)
|
|
|
|
NM_000081.4(LYST):c.11301C>T (p.Tyr3767=)
|
|
|
|
NM_000081.4(LYST):c.11303C>T (p.Thr3768Ile)
|
|
|
|
NM_000081.4(LYST):c.11306C>T (p.Ala3769Val)
|
|
|
|
NM_000081.4(LYST):c.11308A>G (p.Asn3770Asp)
|
|
|
|
NM_000081.4(LYST):c.11310C>T (p.Asn3770=)
|
|
|
|
NM_000081.4(LYST):c.11312G>A (p.Ser3771Asn)
|
|
|
|
NM_000081.4(LYST):c.11320A>T (p.Thr3774Ser)
|
|
|
|
NM_000081.4(LYST):c.11322C>T (p.Thr3774=)
|
|
|
|
NM_000081.4(LYST):c.11323G>A (p.Val3775Met)
|
|
|
|
NM_000081.4(LYST):c.11325G>A (p.Val3775=)
|
|
|
|
NM_000081.4(LYST):c.1132C>G (p.Gln378Glu)
|
|
|
|
NM_000081.4(LYST):c.11339G>A (p.Arg3780Gln)
|
|
|
|
NM_000081.4(LYST):c.11346C>A (p.Asp3782Glu)
|
|
|
|
NM_000081.4(LYST):c.11346C>T (p.Asp3782=)
|
|
|
|
NM_000081.4(LYST):c.11349G>A (p.Gln3783=)
|
|
|
|
NM_000081.4(LYST):c.1134A>G (p.Gln378=)
|
|
|
|
NM_000081.4(LYST):c.11355C>G (p.Arg3785=)
|
|
|
|
NM_000081.4(LYST):c.11358G>A (p.Leu3786=)
|
|
|
|
NM_000081.4(LYST):c.11368A>G (p.Met3790Val)
|
|
|
|
NM_000081.4(LYST):c.11375A>G (p.Tyr3792Cys)
|
|
|
|
NM_000081.4(LYST):c.11391C>T (p.Ser3797=)
|
|
|
|
NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)
|
|
|
|
NM_000081.4(LYST):c.11393A>G (p.Tyr3798Cys)
|
|
|
|
NM_000081.4(LYST):c.11400C>T (p.Ala3800=)
|
|
|
|
NM_000081.4(LYST):c.11401G>C (p.Gly3801Arg)
|
|
|
|
NM_000081.4(LYST):c.11403G>A (p.Gly3801=)
|
|
|
|
NM_000081.4(LYST):c.1143A>T (p.Thr381=)
|
|
|
|
NM_000081.4(LYST):c.1146G>A (p.Leu382=)
|
|
|
|
NM_000081.4(LYST):c.1149G>A (p.Gln383=)
|
|
|
|
NM_000081.4(LYST):c.1151A>T (p.Glu384Val)
|
|
|
|
NM_000081.4(LYST):c.1167T>C (p.Phe389=)
|
|
|
|
NM_000081.4(LYST):c.116T>A (p.Met39Lys)
|
|
|
|
NM_000081.4(LYST):c.1175C>T (p.Ser392Leu)
|
|
|
|
NM_000081.4(LYST):c.1179G>A (p.Lys393=)
|
|
|
|
NM_000081.4(LYST):c.1179G>C (p.Lys393Asn)
|
|
|
|
NM_000081.4(LYST):c.1183C>T (p.Arg395Cys)
|
|
|
|
NM_000081.4(LYST):c.1184G>A (p.Arg395His)
|
|
|
|
NM_000081.4(LYST):c.1189A>G (p.Arg397Gly)
|
|
|
|
NM_000081.4(LYST):c.1189A>T (p.Arg397Ter)
|
|
|
|
NM_000081.4(LYST):c.118dup (p.Ala40fs)
|
rs80338642
|
|
|
NM_000081.4(LYST):c.1198C>A (p.Leu400Ile)
|
|
|
|
NM_000081.4(LYST):c.119C>T (p.Ala40Val)
|
|
|
|
NM_000081.4(LYST):c.1202T>G (p.Leu401Ter)
|
|
|
|
NM_000081.4(LYST):c.1206T>C (p.Pro402=)
|
|
|
|
NM_000081.4(LYST):c.1206T>G (p.Pro402=)
|
|
|
|
NM_000081.4(LYST):c.1217A>G (p.Glu406Gly)
|
|
|
|
NM_000081.4(LYST):c.1236G>A (p.Leu412=)
|
|
|
|
NM_000081.4(LYST):c.1240T>C (p.Cys414Arg)
|
|
|
|
NM_000081.4(LYST):c.1244G>A (p.Cys415Tyr)
|
|
|
|
NM_000081.4(LYST):c.124C>G (p.Leu42Val)
|
|
|
|
NM_000081.4(LYST):c.124del (p.Gly43fs)
|
|
|
|
NM_000081.4(LYST):c.1259C>T (p.Ala420Val)
|
|
|
|
NM_000081.4(LYST):c.125T>C (p.Leu42Pro)
|
|
|
|
NM_000081.4(LYST):c.1263A>G (p.Ser421=)
|
|
|
|
NM_000081.4(LYST):c.126T>C (p.Leu42=)
|
|
|
|
NM_000081.4(LYST):c.1275C>G (p.Tyr425Ter)
|
|
|
|
NM_000081.4(LYST):c.1280G>A (p.Ser427Asn)
|
|
|
|
NM_000081.4(LYST):c.1288A>G (p.Met430Val)
|
|
|
|
NM_000081.4(LYST):c.1296G>A (p.Leu432=)
|
|
|
|
NM_000081.4(LYST):c.1304A>T (p.Glu435Val)
|
|
|
|
NM_000081.4(LYST):c.130C>T (p.Gln44Ter)
|
|
|
|
NM_000081.4(LYST):c.1316A>G (p.His439Arg)
|
|
|
|
NM_000081.4(LYST):c.1319A>G (p.His440Arg)
|
|
|
|
NM_000081.4(LYST):c.131A>G (p.Gln44Arg)
|
|
|
|
NM_000081.4(LYST):c.1328A>G (p.Asn443Ser)
|
|
|
|
NM_000081.4(LYST):c.132G>A (p.Gln44=)
|
|
|
|
NM_000081.4(LYST):c.1332A>G (p.Leu444=)
|
|
|
|
NM_000081.4(LYST):c.1339_1341del (p.Thr447del)
|
|
|
|
NM_000081.4(LYST):c.133T>C (p.Tyr45His)
|
|
|
|
NM_000081.4(LYST):c.1342G>A (p.Ala448Thr)
|
|
|
|
NM_000081.4(LYST):c.1354A>G (p.Met452Val)
|
|
|
|
NM_000081.4(LYST):c.1360T>C (p.Trp454Arg)
|
|
|
|
NM_000081.4(LYST):c.1361G>A (p.Trp454Ter)
|
|
|
|
NM_000081.4(LYST):c.1364T>C (p.Leu455Pro)
|
|
|
|
NM_000081.4(LYST):c.136C>T (p.Leu46Phe)
|
|
|
|
NM_000081.4(LYST):c.1377T>C (p.Asp459=)
|
|
|
|
NM_000081.4(LYST):c.1386T>C (p.Pro462=)
|
|
|
|
NM_000081.4(LYST):c.1389C>A (p.Pro463=)
|
|
|
|
NM_000081.4(LYST):c.1389C>T (p.Pro463=)
|
|
|
|
NM_000081.4(LYST):c.1391del (p.Glu464fs)
|
|
|
|
NM_000081.4(LYST):c.1392G>A (p.Glu464=)
|
|
|
|
NM_000081.4(LYST):c.1400A>T (p.Glu467Val)
|
|
|
|
NM_000081.4(LYST):c.1406T>A (p.Leu469Ter)
|
|
|
|
NM_000081.4(LYST):c.1412C>T (p.Ala471Val)
|
|
|
|
NM_000081.4(LYST):c.1413C>T (p.Ala471=)
|
|
|
|
NM_000081.4(LYST):c.141C>T (p.Val47=)
|
|
|
|
NM_000081.4(LYST):c.1421A>G (p.Asn474Ser)
|
|
|
|
NM_000081.4(LYST):c.1422T>C (p.Asn474=)
|
|
|
|
NM_000081.4(LYST):c.1425T>C (p.Ser475=)
|
|
|
|
NM_000081.4(LYST):c.1428G>A (p.Val476=)
|
|
|
|
NM_000081.4(LYST):c.1446T>C (p.Thr482=)
|
|
|
|
NM_000081.4(LYST):c.144T>C (p.His48=)
|
|
|
|
NM_000081.4(LYST):c.1454A>C (p.Lys485Thr)
|
|
|
|
NM_000081.4(LYST):c.1456G>T (p.Val486Leu)
|
|
|
|
NM_000081.4(LYST):c.1467G>A (p.Glu489=)
|
|
|
|
NM_000081.4(LYST):c.1467del (p.Glu489fs)
|
rs80338644
|
|
|
NM_000081.4(LYST):c.146G>A (p.Gly49Asp)
|
|
|
|
NM_000081.4(LYST):c.1470A>G (p.Gln490=)
|
|
|
|
NM_000081.4(LYST):c.1475A>G (p.His492Arg)
|
|
|
|
NM_000081.4(LYST):c.1478A>G (p.His493Arg)
|
|
|
|
NM_000081.4(LYST):c.147T>C (p.Gly49=)
|
|
|
|
NM_000081.4(LYST):c.1481C>T (p.Ser494Leu)
|
|
|
|
NM_000081.4(LYST):c.1482G>A (p.Ser494=)
|
|
|
|
NM_000081.4(LYST):c.1482G>T (p.Ser494=)
|
|
|
|
NM_000081.4(LYST):c.1487G>A (p.Cys496Tyr)
|
|
|
|
NM_000081.4(LYST):c.1488T>C (p.Cys496=)
|
|
|
|
NM_000081.4(LYST):c.148C>G (p.Arg50Gly)
|
|
|
|
NM_000081.4(LYST):c.148C>T (p.Arg50Ter)
|
rs80338643
|
|
|
NM_000081.4(LYST):c.1492A>T (p.Arg498Ter)
|
|
|
|
NM_000081.4(LYST):c.149G>A (p.Arg50Gln)
|
|
|
|
NM_000081.4(LYST):c.1500_1501delinsAT (p.His501Tyr)
|
|
|
|
NM_000081.4(LYST):c.1508G>A (p.Arg503Gln)
|
|
|
|
NM_000081.4(LYST):c.150A>G (p.Arg50=)
|
|
|
|
NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)
|
|
|
|
NM_000081.4(LYST):c.1520C>T (p.Ser507Phe)
|
|
|
|
NM_000081.4(LYST):c.1530G>A (p.Met510Ile)
|
|
|
|
NM_000081.4(LYST):c.1532A>G (p.His511Arg)
|
|
|
|
NM_000081.4(LYST):c.1535A>G (p.His512Arg)
|
rs759547330
|
|
|
NM_000081.4(LYST):c.1536T>A (p.His512Gln)
|
|
|
|
NM_000081.4(LYST):c.1538A>G (p.His513Arg)
|
|
|
|
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)
|
rs80338645
|
|
|
NM_000081.4(LYST):c.154T>C (p.Phe52Leu)
|
|
|
|
NM_000081.4(LYST):c.1563T>C (p.Val521=)
|
|
|
|
NM_000081.4(LYST):c.1565C>T (p.Ser522Leu)
|
|
|
|
NM_000081.4(LYST):c.1566G>A (p.Ser522=)
|
|
|
|
NM_000081.4(LYST):c.1575A>C (p.Lys525Asn)
|
|
|
|
NM_000081.4(LYST):c.157C>T (p.Leu53=)
|
|
|
|
NM_000081.4(LYST):c.1580A>G (p.Gln527Arg)
|
|
|
|
NM_000081.4(LYST):c.1588A>C (p.Lys530Gln)
|
|
|
|
NM_000081.4(LYST):c.1592dup (p.Asn531fs)
|
|
|
|
NM_000081.4(LYST):c.1596A>G (p.Pro532=)
|
|
|
|
NM_000081.4(LYST):c.1599dup (p.Glu534Ter)
|
|
|
|
NM_000081.4(LYST):c.1602A>G (p.Glu534=)
|
|
|
|
NM_000081.4(LYST):c.1604A>G (p.Glu535Gly)
|
|
|
|
NM_000081.4(LYST):c.1609G>T (p.Ala537Ser)
|
|
|
|
NM_000081.4(LYST):c.1610C>T (p.Ala537Val)
|
|
|
|
NM_000081.4(LYST):c.1614T>C (p.Asp538=)
|
|
|
|
NM_000081.4(LYST):c.1615G>A (p.Gly539Arg)
|
|
|
|
NM_000081.4(LYST):c.1625A>G (p.Tyr542Cys)
|
|
|
|
NM_000081.4(LYST):c.1636C>T (p.Arg546Trp)
|
|
|
|
NM_000081.4(LYST):c.1647C>T (p.Cys549=)
|
|
|
|
NM_000081.4(LYST):c.1648A>G (p.Ile550Val)
|
|
|
|
NM_000081.4(LYST):c.1652C>T (p.Ala551Val)
|
|
|
|
NM_000081.4(LYST):c.1654G>T (p.Val552Leu)
|
|
|
|
NM_000081.4(LYST):c.1662C>A (p.Ala554=)
|
|
|
|
NM_000081.4(LYST):c.1662C>G (p.Ala554=)
|
|
|
|
NM_000081.4(LYST):c.1664A>C (p.His555Pro)
|
|
|
|
NM_000081.4(LYST):c.1675C>T (p.Arg559Cys)
|
|
|
|
NM_000081.4(LYST):c.1676G>A (p.Arg559His)
|
|
|
|
NM_000081.4(LYST):c.167C>T (p.Thr56Ile)
|
|
|
|
NM_000081.4(LYST):c.1680A>G (p.Leu560=)
|
|
|
|
NM_000081.4(LYST):c.168C>A (p.Thr56=)
|
|
|
|
NM_000081.4(LYST):c.1691C>T (p.Ala564Val)
|
|
|
|
NM_000081.4(LYST):c.1697T>G (p.Leu566Trp)
|
|
|
|
NM_000081.4(LYST):c.1704C>T (p.Ser568=)
|
|
|
|
NM_000081.4(LYST):c.1716G>C (p.Gln572His)
|
|
|
|
NM_000081.4(LYST):c.1716G>T (p.Gln572His)
|
|
|
|
NM_000081.4(LYST):c.171G>A (p.Lys57=)
|
|
|
|
NM_000081.4(LYST):c.171G>T (p.Lys57Asn)
|
|
|
|
NM_000081.4(LYST):c.1722A>G (p.Leu574=)
|
|
|
|
NM_000081.4(LYST):c.1724C>T (p.Ser575Leu)
|
|
|
|
NM_000081.4(LYST):c.1725G>A (p.Ser575=)
|
|
|
|
NM_000081.4(LYST):c.1726G>A (p.Gly576Ser)
|
|
|
|
NM_000081.4(LYST):c.1727G>A (p.Gly576Asp)
|
|
|
|
NM_000081.4(LYST):c.1729G>A (p.Val577Ile)
|
|
|
|
NM_000081.4(LYST):c.1737C>T (p.Asn579=)
|
|
|
|
NM_000081.4(LYST):c.1739T>C (p.Ile580Thr)
|
|
|
|
NM_000081.4(LYST):c.1746A>G (p.Ile582Met)
|
|
|
|
NM_000081.4(LYST):c.1753T>G (p.Cys585Gly)
|
|
|
|
NM_000081.4(LYST):c.1757T>A (p.Met586Lys)
|
|
|
|
NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)
|
|
|
|
NM_000081.4(LYST):c.1759G>A (p.Asp587Asn)
|
|
|
|
NM_000081.4(LYST):c.1760A>G (p.Asp587Gly)
|
|
|
|
NM_000081.4(LYST):c.1765A>G (p.Lys589Glu)
|
|
|
|
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
|
|
|
|
NM_000081.4(LYST):c.1767A>C (p.Lys589Asn)
|
|
|
|
NM_000081.4(LYST):c.1776C>T (p.Ile592=)
|
|
|
|
NM_000081.4(LYST):c.1779T>C (p.Ile593=)
|
|
|
|
NM_000081.4(LYST):c.1788C>G (p.Leu596=)
|
|
|
|
NM_000081.4(LYST):c.1797T>C (p.Phe599=)
|
|
|
|
NM_000081.4(LYST):c.1798A>G (p.Lys600Glu)
|
|
|
|
NM_000081.4(LYST):c.1800A>T (p.Lys600Asn)
|
|
|
|
NM_000081.4(LYST):c.1803G>A (p.Leu601=)
|
|
|
|
NM_000081.4(LYST):c.1806A>G (p.Pro602=)
|
|
|
|
NM_000081.4(LYST):c.1807G>T (p.Ala603Ser)
|
|
|
|
NM_000081.4(LYST):c.1809A>G (p.Ala603=)
|
|
|
|
NM_000081.4(LYST):c.181A>G (p.Ile61Val)
|
|
|
|
NM_000081.4(LYST):c.1829A>T (p.His610Leu)
|
|
|
|
NM_000081.4(LYST):c.1836G>A (p.Leu612=)
|
|
|
|
NM_000081.4(LYST):c.1842C>T (p.Ile614=)
|
|
|
|
NM_000081.4(LYST):c.1843C>T (p.Leu615Phe)
|
|
|
|
NM_000081.4(LYST):c.184A>G (p.Ile62Val)
|
|
|
|
NM_000081.4(LYST):c.1853T>A (p.Leu618His)
|
|
|
|
NM_000081.4(LYST):c.1857T>G (p.Ile619Met)
|
|
|
|
NM_000081.4(LYST):c.1860G>C (p.Leu620Phe)
|
|
|
|
NM_000081.4(LYST):c.1862A>G (p.Asp621Gly)
|
|
|
|
NM_000081.4(LYST):c.1862A>T (p.Asp621Val)
|
|
|
|
NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)
|
|
|
|
NM_000081.4(LYST):c.1871GAG[1] (p.Gly625del)
|
|
|
|
NM_000081.4(LYST):c.1875A>G (p.Gly625=)
|
|
|
|
NM_000081.4(LYST):c.1880A>C (p.Glu627Ala)
|
|
|
|
NM_000081.4(LYST):c.1882A>C (p.Ile628Leu)
|
|
|
|
NM_000081.4(LYST):c.1888C>G (p.Pro630Ala)
|
|
|
|
NM_000081.4(LYST):c.1897A>G (p.Lys633Glu)
|
|
|
|
NM_000081.4(LYST):c.1897A>T (p.Lys633Ter)
|
|
|
|
NM_000081.4(LYST):c.1901A>G (p.Lys634Arg)
|
|
|
|
NM_000081.4(LYST):c.1902dup (p.Ala635fs)
|
rs80338646
|
|
|
NM_000081.4(LYST):c.1903G>A (p.Ala635Thr)
|
|
|
|
NM_000081.4(LYST):c.1903G>T (p.Ala635Ser)
|
|
|
|
NM_000081.4(LYST):c.1907C>T (p.Ala636Val)
|
|
|
|
NM_000081.4(LYST):c.1908T>C (p.Ala636=)
|
|
|
|
NM_000081.4(LYST):c.1912A>G (p.Asn638Asp)
|
|
|
|
NM_000081.4(LYST):c.1913A>G (p.Asn638Ser)
|
|
|
|
NM_000081.4(LYST):c.1915A>G (p.Ile639Val)
|
|
|
|
NM_000081.4(LYST):c.1918T>C (p.Cys640Arg)
|
|
|
|
NM_000081.4(LYST):c.1919G>T (p.Cys640Phe)
|
|
|
|
NM_000081.4(LYST):c.192+10T>G
|
|
|
|
NM_000081.4(LYST):c.192+11T>C
|
|
|
|
NM_000081.4(LYST):c.192+13T>C
|
|
|
|
NM_000081.4(LYST):c.192+1G>A
|
|
|
|
NM_000081.4(LYST):c.192+2T>C
|
|
|
|
NM_000081.4(LYST):c.192+7T>C
|
|
|
|
NM_000081.4(LYST):c.192+8T>G
|
|
|
|
NM_000081.4(LYST):c.1924G>A (p.Val642Ile)
|
|
|
|
NM_000081.4(LYST):c.1924G>T (p.Val642Phe)
|
|
|
|
NM_000081.4(LYST):c.193-11T>A
|
|
|
|
NM_000081.4(LYST):c.193-18C>G
|
|
|
|
NM_000081.4(LYST):c.193-3T>C
|
|
|
|
NM_000081.4(LYST):c.193-7G>A
|
|
|
|
NM_000081.4(LYST):c.1933G>A (p.Asp645Asn)
|
|
|
|
NM_000081.4(LYST):c.1939C>G (p.Leu647Val)
|
|
|
|
NM_000081.4(LYST):c.1940T>G (p.Leu647Arg)
|
|
|
|
NM_000081.4(LYST):c.1952A>G (p.Glu651Gly)
|
|
|
|
NM_000081.4(LYST):c.1957A>G (p.Thr653Ala)
|
|
|
|
NM_000081.4(LYST):c.1959A>G (p.Thr653=)
|
|
|
|
NM_000081.4(LYST):c.1964A>G (p.Gln655Arg)
|
|
|
|
NM_000081.4(LYST):c.1965G>C (p.Gln655His)
|
|
|
|
NM_000081.4(LYST):c.1967G>T (p.Gly656Val)
|
|
|
|
NM_000081.4(LYST):c.1970A>G (p.Asn657Ser)
|
|
|
|
NM_000081.4(LYST):c.1971C>T (p.Asn657=)
|
rs1346763642
|
|
|
NM_000081.4(LYST):c.1975T>C (p.Cys659Arg)
|
|
|
|
NM_000081.4(LYST):c.1986A>G (p.Glu662=)
|
|
|
|
NM_000081.4(LYST):c.1988T>C (p.Leu663Pro)
|
|
|
|
NM_000081.4(LYST):c.1990T>C (p.Ser664Pro)
|
|
|
|
NM_000081.4(LYST):c.1995A>G (p.Ser665=)
|
|
|
|
NM_000081.4(LYST):c.2004C>T (p.Ser668=)
|
|
|
|
NM_000081.4(LYST):c.2009CTT[1] (p.Ser671del)
|
|
|
|
NM_000081.4(LYST):c.200C>T (p.Thr67Ile)
|
|
|
|
NM_000081.4(LYST):c.2013T>C (p.Ser671=)
|
|
|
|
NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)
|
|
|
|
NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)
|
|
|
|
NM_000081.4(LYST):c.2022T>A (p.Phe674Leu)
|
|
|
|
NM_000081.4(LYST):c.2025A>G (p.Gln675=)
|
|
|
|
NM_000081.4(LYST):c.2029A>G (p.Ile677Val)
|
|
|
|
NM_000081.4(LYST):c.2029A>T (p.Ile677Phe)
|
|
|
|
NM_000081.4(LYST):c.2030T>C (p.Ile677Thr)
|
|
|
|
NM_000081.4(LYST):c.2040C>T (p.Ser680=)
|
rs1572335678
|
|
|
NM_000081.4(LYST):c.2045G>A (p.Gly682Glu)
|
|
|
|
NM_000081.4(LYST):c.2059T>C (p.Leu687=)
|
|
|
|
NM_000081.4(LYST):c.2063G>A (p.Trp688Ter)
|
|
|
|
NM_000081.4(LYST):c.2065A>G (p.Lys689Glu)
|
|
|
|
NM_000081.4(LYST):c.2073T>C (p.Asp691=)
|
|
|
|
NM_000081.4(LYST):c.2075C>T (p.Ala692Val)
|
|
|
|
NM_000081.4(LYST):c.2078T>C (p.Leu693Ser)
|
|
|
|
NM_000081.4(LYST):c.2082G>A (p.Lys694=)
|
|
|
|
NM_000081.4(LYST):c.2094C>T (p.Asn698=)
|
|
|
|
NM_000081.4(LYST):c.2097T>C (p.Phe699=)
|
|
|
|
NM_000081.4(LYST):c.2098G>C (p.Val700Leu)
|
|
|
|
NM_000081.4(LYST):c.2103T>C (p.Phe701=)
|
|
|
|
NM_000081.4(LYST):c.2106A>G (p.Glu702=)
|
|
|
|
NM_000081.4(LYST):c.2109A>G (p.Glu703=)
|
|
|
|
NM_000081.4(LYST):c.210A>G (p.Glu70=)
|
|
|
|
NM_000081.4(LYST):c.2118A>G (p.Leu706=)
|
|
|
|
NM_000081.4(LYST):c.2124T>C (p.Ser708=)
|
|
|
|
NM_000081.4(LYST):c.2125A>G (p.Ile709Val)
|
|
|
|
NM_000081.4(LYST):c.2129A>G (p.Gln710Arg)
|
|
|
|
NM_000081.4(LYST):c.2130G>A (p.Gln710=)
|
|
|
|
NM_000081.4(LYST):c.2145T>C (p.Ile715=)
|
|
|
|
NM_000081.4(LYST):c.2147G>A (p.Cys716Tyr)
|
|
|
|
NM_000081.4(LYST):c.2148C>T (p.Cys716=)
|
|
|
|
NM_000081.4(LYST):c.2153T>C (p.Leu718Ser)
|
|
|
|
NM_000081.4(LYST):c.2157C>T (p.Ile719=)
|
|
|
|
NM_000081.4(LYST):c.2158C>T (p.Gln720Ter)
|
|
|
|
NM_000081.4(LYST):c.2168A>G (p.Asn723Ser)
|
|
|
|
NM_000081.4(LYST):c.2170A>G (p.Ile724Val)
|
|
|
|
NM_000081.4(LYST):c.2172A>G (p.Ile724Met)
|
|
|
|
NM_000081.4(LYST):c.2179C>G (p.Gln727Glu)
|
|
|
|
NM_000081.4(LYST):c.2180A>G (p.Gln727Arg)
|
|
|
|
NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)
|
|
|
|
NM_000081.4(LYST):c.2217C>T (p.Leu739=)
|
|
|
|
NM_000081.4(LYST):c.2235A>G (p.Leu745=)
|
|
|
|
NM_000081.4(LYST):c.2239C>T (p.His747Tyr)
|
|
|
|
NM_000081.4(LYST):c.2244T>C (p.His748=)
|
|
|
|
NM_000081.4(LYST):c.2250A>G (p.Gln750=)
|
|
|
|
NM_000081.4(LYST):c.2255T>A (p.Leu752Gln)
|
|
|
|
NM_000081.4(LYST):c.2255T>G (p.Leu752Arg)
|
|
|
|
NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)
|
|
|
|
NM_000081.4(LYST):c.2259C>T (p.Ser753=)
|
|
|
|
NM_000081.4(LYST):c.2260G>A (p.Val754Ile)
|
|
|
|
NM_000081.4(LYST):c.2274A>G (p.Gln758=)
|
|
|
|
NM_000081.4(LYST):c.2274A>T (p.Gln758His)
|
|
|
|
NM_000081.4(LYST):c.2275del (p.Ser759fs)
|
|
|
|
NM_000081.4(LYST):c.2281G>C (p.Val761Leu)
|
|
|
|
NM_000081.4(LYST):c.2288G>A (p.Ser763Asn)
|
|
|
|
NM_000081.4(LYST):c.2289C>T (p.Ser763=)
|
|
|
|
NM_000081.4(LYST):c.2291A>G (p.His764Arg)
|
|
|
|
NM_000081.4(LYST):c.2295T>C (p.His765=)
|
|
|
|
NM_000081.4(LYST):c.22C>G (p.Leu8Val)
|
|
|
|
NM_000081.4(LYST):c.2305T>C (p.Leu769=)
|
|
|
|
NM_000081.4(LYST):c.2307G>A (p.Leu769=)
|
|
|
|
NM_000081.4(LYST):c.2307G>T (p.Leu769Phe)
|
|
|
|
NM_000081.4(LYST):c.2309C>A (p.Pro770His)
|
|
|
|
NM_000081.4(LYST):c.2310T>C (p.Pro770=)
|
|
|
|
NM_000081.4(LYST):c.2311C>G (p.Gln771Glu)
|
|
|
|
NM_000081.4(LYST):c.2316C>G (p.Asp772Glu)
|
|
|
|
NM_000081.4(LYST):c.2317G>A (p.Val773Met)
|
|
|
|
NM_000081.4(LYST):c.2317G>T (p.Val773Leu)
|
|
|
|
NM_000081.4(LYST):c.2319G>C (p.Val773=)
|
|
|
|
NM_000081.4(LYST):c.2319_2320delinsAT (p.Leu774Phe)
|
rs2102878203
|
|
|
NM_000081.4(LYST):c.231G>A (p.Leu77=)
|
|
|
|
NM_000081.4(LYST):c.2339C>T (p.Thr780Ile)
|
|
|
|
NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)
|
|
|
|
NM_000081.4(LYST):c.2343G>A (p.Leu781=)
|
|
|
|
NM_000081.4(LYST):c.2347A>G (p.Ile783Val)
|
|
|
|
NM_000081.4(LYST):c.235C>G (p.Leu79Val)
|
|
|
|
NM_000081.4(LYST):c.2363+11G>A
|
|
|
|
NM_000081.4(LYST):c.2363+12dup
|
|
|
|
NM_000081.4(LYST):c.2363+13G>A
|
|
|
|
NM_000081.4(LYST):c.2363+16G>T
|
|
|
|
NM_000081.4(LYST):c.2363+17G>A
|
|
|
|
NM_000081.4(LYST):c.2363+17G>C
|
|
|
|
NM_000081.4(LYST):c.2363+3T>C
|
|
|
|
NM_000081.4(LYST):c.2363+7A>T
|
|
|
|
NM_000081.4(LYST):c.2364-12T>C
|
|
|
|
NM_000081.4(LYST):c.2364-15T>G
|
|
|
|
NM_000081.4(LYST):c.2364-16dup
|
|
|
|
NM_000081.4(LYST):c.2364-17C>A
|
|
|
|
NM_000081.4(LYST):c.2364-17C>T
|
|
|
|
NM_000081.4(LYST):c.2364-20A>G
|
|
|
|
NM_000081.4(LYST):c.2364-5C>T
|
|
|
|
NM_000081.4(LYST):c.2364-6T>C
|
|
|
|
NM_000081.4(LYST):c.2365G>T (p.Val789Leu)
|
|
|
|
NM_000081.4(LYST):c.2368A>G (p.Ile790Val)
|
|
|
|
NM_000081.4(LYST):c.236_237del (p.Leu79fs)
|
|
|
|
NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)
|
|
|
|
NM_000081.4(LYST):c.2382T>C (p.Phe794=)
|
rs1572329047
|
|
|
NM_000081.4(LYST):c.2383T>C (p.Leu795=)
|
|
|
|
NM_000081.4(LYST):c.2384T>C (p.Leu795Ser)
|
|
|
|
NM_000081.4(LYST):c.2391T>C (p.Cys797=)
|
|
|
|
NM_000081.4(LYST):c.2392A>G (p.Asn798Asp)
|
|
|
|
NM_000081.4(LYST):c.2395_2396delinsAT (p.Gly799Ile)
|
|
|
|
NM_000081.4(LYST):c.2404C>A (p.Gln802Lys)
|
|
|
|
NM_000081.4(LYST):c.2409A>C (p.Ile803=)
|
|
|
|
NM_000081.4(LYST):c.2412C>A (p.Ile804=)
|
|
|
|
NM_000081.4(LYST):c.2412C>T (p.Ile804=)
|
rs1031547596
|
|
|
NM_000081.4(LYST):c.2413G>A (p.Glu805Lys)
|
|
|
|
NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)
|
|
|
|
NM_000081.4(LYST):c.2413del (p.Glu805fs)
|
rs80338647
|
|
|
NM_000081.4(LYST):c.2416T>C (p.Leu806=)
|
|
|
|
NM_000081.4(LYST):c.2433T>G (p.Gly811=)
|
|
|
|
NM_000081.4(LYST):c.2434A>G (p.Ile812Val)
|
|
|
|
NM_000081.4(LYST):c.2437C>T (p.Arg813Ter)
|
|
|
|
NM_000081.4(LYST):c.2437del (p.Arg813fs)
|
|
|
|
NM_000081.4(LYST):c.2439A>C (p.Arg813=)
|
|
|
|
NM_000081.4(LYST):c.2440A>C (p.Ser814Arg)
|
|
|
|
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
|
|
|
|
NM_000081.4(LYST):c.2442T>C (p.Ser814=)
|
|
|
|
NM_000081.4(LYST):c.2443C>T (p.His815Tyr)
|
|
|
|
NM_000081.4(LYST):c.2444A>G (p.His815Arg)
|
|
|
|
NM_000081.4(LYST):c.244C>T (p.Leu82=)
|
|
|
|
NM_000081.4(LYST):c.244dup (p.Leu82fs)
|
|
|
|
NM_000081.4(LYST):c.2454del (p.Ala819fs)
|
rs80338648
|
|
|
NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)
|
|
|
|
NM_000081.4(LYST):c.2457A>C (p.Ala819=)
|
|
|
|
NM_000081.4(LYST):c.2460T>G (p.Phe820Leu)
|
|
|
|
NM_000081.4(LYST):c.2463A>G (p.Glu821=)
|
|
|
|
NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)
|
|
|
|
NM_000081.4(LYST):c.2466T>G (p.Thr822=)
|
|
|
|
NM_000081.4(LYST):c.2469G>A (p.Leu823=)
|
rs1572328673
|
|
|
NM_000081.4(LYST):c.2478C>G (p.Ser826Arg)
|
|
|
|
NM_000081.4(LYST):c.2478C>T (p.Ser826=)
|
|
|
|
NM_000081.4(LYST):c.247G>A (p.Val83Ile)
|
|
|
|
NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)
|
|
|
|
NM_000081.4(LYST):c.2484G>A (p.Gly828=)
|
|
|
|
NM_000081.4(LYST):c.2496A>G (p.Lys832=)
|
|
|
|
NM_000081.4(LYST):c.249A>G (p.Val83=)
|
|
|
|
NM_000081.4(LYST):c.24G>A (p.Leu8=)
|
|
|
|
NM_000081.4(LYST):c.2502C>T (p.Ala834=)
|
|
|
|
NM_000081.4(LYST):c.2505A>G (p.Ser835=)
|
|
|
|
NM_000081.4(LYST):c.2509C>G (p.Pro837Ala)
|
|
|
|
NM_000081.4(LYST):c.2514T>A (p.Asp838Glu)
|
|
|
|
NM_000081.4(LYST):c.2518G>A (p.Asp840Asn)
|
|
|
|
NM_000081.4(LYST):c.2521G>C (p.Gly841Arg)
|
|
|
|
NM_000081.4(LYST):c.2522G>A (p.Gly841Glu)
|
|
|
|
NM_000081.4(LYST):c.2523G>A (p.Gly841=)
|
|
|
|
NM_000081.4(LYST):c.2523G>C (p.Gly841=)
|
|
|
|
NM_000081.4(LYST):c.2529C>T (p.Asp843=)
|
|
|
|
NM_000081.4(LYST):c.2531T>G (p.Ile844Ser)
|
|
|
|
NM_000081.4(LYST):c.2539_2541del (p.Lys847del)
|
|
|
|
NM_000081.4(LYST):c.253A>G (p.Lys85Glu)
|
|
|
|
NM_000081.4(LYST):c.2540del (p.Lys847fs)
|
|
|
|
NM_000081.4(LYST):c.2546T>C (p.Leu849Ser)
|
|
|
|
NM_000081.4(LYST):c.2554G>A (p.Val852Ile)
|
|
|
|
NM_000081.4(LYST):c.2556A>T (p.Val852=)
|
|
|
|
NM_000081.4(LYST):c.2559T>C (p.His853=)
|
|
|
|
NM_000081.4(LYST):c.2563G>A (p.Gly855Ser)
|
|
|
|
NM_000081.4(LYST):c.2565T>A (p.Gly855=)
|
|
|
|
NM_000081.4(LYST):c.2567C>T (p.Thr856Ile)
|
|
|
|
NM_000081.4(LYST):c.2568T>G (p.Thr856=)
|
|
|
|
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
|
|
|
|
NM_000081.4(LYST):c.2583G>A (p.Gln861=)
|
|
|
|
NM_000081.4(LYST):c.259C>A (p.Pro87Thr)
|
|
|
|
NM_000081.4(LYST):c.2600C>G (p.Ser867Cys)
|
|
|
|
NM_000081.4(LYST):c.2616C>A (p.Ser872Arg)
|
|
|
|
NM_000081.4(LYST):c.2623del (p.Tyr875fs)
|
rs80338649
|
|
|
NM_000081.4(LYST):c.2624A>T (p.Tyr875Phe)
|
|
|
|
NM_000081.4(LYST):c.2627C>T (p.Ala876Val)
|
|
|
|
NM_000081.4(LYST):c.2630G>C (p.Gly877Ala)
|
|
|
|
NM_000081.4(LYST):c.2636A>G (p.Lys879Arg)
|
|
|
|
NM_000081.4(LYST):c.2637A>G (p.Lys879=)
|
|
|
|
NM_000081.4(LYST):c.2641G>C (p.Ala881Pro)
|
|
|
|
NM_000081.4(LYST):c.2642C>T (p.Ala881Val)
|
|
|
|
NM_000081.4(LYST):c.2646T>C (p.Tyr882=)
|
|
|
|
NM_000081.4(LYST):c.2647C>G (p.Pro883Ala)
|
|
|
|
NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)
|
|
|
|
NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)
|
|
|
|
NM_000081.4(LYST):c.2674G>C (p.Asp892His)
|
|
|
|
NM_000081.4(LYST):c.2677G>A (p.Val893Ile)
|
|
|
|
NM_000081.4(LYST):c.2681A>G (p.His894Arg)
|
|
|
|
NM_000081.4(LYST):c.2687A>G (p.Asn896Ser)
|
|
|
|
NM_000081.4(LYST):c.2703C>T (p.Phe901=)
|
|
|
|
NM_000081.4(LYST):c.2708G>C (p.Cys903Ser)
|
|
|
|
NM_000081.4(LYST):c.2710G>T (p.Val904Leu)
|
|
|
|
NM_000081.4(LYST):c.2712G>T (p.Val904=)
|
|
|
|
NM_000081.4(LYST):c.2718T>C (p.Phe906=)
|
|
|
|
NM_000081.4(LYST):c.2724C>G (p.Cys908Trp)
|
|
|
|
NM_000081.4(LYST):c.2725G>A (p.Val909Ile)
|
|
|
|
NM_000081.4(LYST):c.2729G>A (p.Ser910Asn)
|
|
|
|
NM_000081.4(LYST):c.2730_2734del (p.Ser910fs)
|
|
|
|
NM_000081.4(LYST):c.2736A>G (p.Glu912=)
|
|
|
|
NM_000081.4(LYST):c.2745T>C (p.Ser915=)
|
|
|
|
NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)
|
|
|
|
NM_000081.4(LYST):c.2746_2747insCCG (p.Ser915_Asp916insAla)
|
|
|
|
NM_000081.4(LYST):c.2749A>G (p.Arg917Gly)
|
|
|
|
NM_000081.4(LYST):c.2756C>T (p.Ser919Leu)
|
|
|
|
NM_000081.4(LYST):c.2758G>A (p.Ala920Thr)
|
|
|
|
NM_000081.4(LYST):c.2760C>T (p.Ala920=)
|
|
|
|
NM_000081.4(LYST):c.2768C>T (p.Ser923Leu)
|
|
|
|
NM_000081.4(LYST):c.2769A>T (p.Ser923=)
|
|
|
|
NM_000081.4(LYST):c.2777C>T (p.Thr926Ile)
|
|
|
|
NM_000081.4(LYST):c.2783G>A (p.Gly928Asp)
|
|
|
|
NM_000081.4(LYST):c.278C>G (p.Ala93Gly)
|
|
|
|
NM_000081.4(LYST):c.2790C>G (p.Asp930Glu)
|
|
|
|
NM_000081.4(LYST):c.2792G>C (p.Ser931Thr)
|
|
|
|
NM_000081.4(LYST):c.27A>G (p.Ala9=)
|
|
|
|
NM_000081.4(LYST):c.2801G>A (p.Ser934Asn)
|
|
|
|
NM_000081.4(LYST):c.2802C>T (p.Ser934=)
|
|
|
|
NM_000081.4(LYST):c.2803G>A (p.Glu935Lys)
|
|
|
|
NM_000081.4(LYST):c.2806C>A (p.Pro936Thr)
|
|
|
|
NM_000081.4(LYST):c.2806C>G (p.Pro936Ala)
|
|
|
|
NM_000081.4(LYST):c.2807C>A (p.Pro936His)
|
|
|
|
NM_000081.4(LYST):c.2807C>G (p.Pro936Arg)
|
|
|
|
NM_000081.4(LYST):c.280A>G (p.Thr94Ala)
|
|
|
|
NM_000081.4(LYST):c.2812A>G (p.Ser938Gly)
|
|
|
|
NM_000081.4(LYST):c.2813G>T (p.Ser938Ile)
|
|
|
|
NM_000081.4(LYST):c.2816A>G (p.His939Arg)
|
|
|
|
NM_000081.4(LYST):c.2821C>T (p.Leu941=)
|
|
|
|
NM_000081.4(LYST):c.2827T>C (p.Cys943Arg)
|
|
|
|
NM_000081.4(LYST):c.2827T>G (p.Cys943Gly)
|
|
|
|
NM_000081.4(LYST):c.2828G>A (p.Cys943Tyr)
|
|
|
|
NM_000081.4(LYST):c.2829T>C (p.Cys943=)
|
|
|
|
NM_000081.4(LYST):c.283+11T>C
|
|
|
|
NM_000081.4(LYST):c.283+12C>T
|
|
|
|
NM_000081.4(LYST):c.283+14del
|
|
|
|
NM_000081.4(LYST):c.283+16T>A
|
|
|
|
NM_000081.4(LYST):c.283+16T>G
|
|
|
|
NM_000081.4(LYST):c.283+17T>C
|
|
|
|
NM_000081.4(LYST):c.283+18A>G
|
|
|
|
NM_000081.4(LYST):c.283+20C>T
|
|
|
|
NM_000081.4(LYST):c.283+4T>C
|
|
|
|
NM_000081.4(LYST):c.283+8T>C
|
|
|
|
NM_000081.4(LYST):c.2830A>G (p.Ile944Val)
|
|
|
|
NM_000081.4(LYST):c.2832del (p.Ser945fs)
|
|
|
|
NM_000081.4(LYST):c.2838C>T (p.Leu946=)
|
|
|
|
NM_000081.4(LYST):c.2839G>A (p.Glu947Lys)
|
|
|
|
NM_000081.4(LYST):c.284-10A>G
|
|
|
|
NM_000081.4(LYST):c.284-13T>C
|
|
|
|
NM_000081.4(LYST):c.284-14T>C
|
|
|
|
NM_000081.4(LYST):c.284-5A>G
|
|
|
|
NM_000081.4(LYST):c.284-6C>A
|
|
|
|
NM_000081.4(LYST):c.284-9T>C
|
|
|
|
NM_000081.4(LYST):c.2841G>A (p.Glu947=)
|
|
|
|
NM_000081.4(LYST):c.2842A>G (p.Ser948Gly)
|
|
|
|
NM_000081.4(LYST):c.2844C>T (p.Ser948=)
|
|
|
|
NM_000081.4(LYST):c.2845C>T (p.Leu949Phe)
|
|
|
|
NM_000081.4(LYST):c.2848G>A (p.Val950Ile)
|
|
|
|
NM_000081.4(LYST):c.2848G>C (p.Val950Leu)
|
|
|
|
NM_000081.4(LYST):c.2850C>T (p.Val950=)
|
|
|
|
NM_000081.4(LYST):c.2851T>C (p.Leu951=)
|
rs773810421
|
|
|
NM_000081.4(LYST):c.2856T>G (p.Pro952=)
|
|
|
|
NM_000081.4(LYST):c.285T>C (p.Asp95=)
|
|
|
|
NM_000081.4(LYST):c.285T>G (p.Asp95Glu)
|
rs747965676
|
|
|
NM_000081.4(LYST):c.2860C>T (p.Pro954Ser)
|
|
|
|
NM_000081.4(LYST):c.2868T>C (p.His956=)
|
|
|
|
NM_000081.4(LYST):c.2882C>T (p.Ala961Val)
|
|
|
|
NM_000081.4(LYST):c.2886C>T (p.Asp962=)
|
|
|
|
NM_000081.4(LYST):c.2895T>A (p.Ser965=)
|
|
|
|
NM_000081.4(LYST):c.28C>T (p.Arg10Cys)
|
|
|
|
NM_000081.4(LYST):c.2901T>C (p.Cys967=)
|
|
|
|
NM_000081.4(LYST):c.2902C>T (p.Arg968Cys)
|
|
|
|
NM_000081.4(LYST):c.2903G>A (p.Arg968His)
|
|
|
|
NM_000081.4(LYST):c.2904T>C (p.Arg968=)
|
|
|
|
NM_000081.4(LYST):c.2909T>C (p.Ile970Thr)
|
rs141758032
|
|
|
NM_000081.4(LYST):c.2909T>G (p.Ile970Ser)
|
|
|
|
NM_000081.4(LYST):c.2916G>A (p.Met972Ile)
|
|
|
|
NM_000081.4(LYST):c.2919G>A (p.Leu973=)
|
|
|
|
NM_000081.4(LYST):c.2926G>A (p.Val976Met)
|
|
|
|
NM_000081.4(LYST):c.292C>T (p.Leu98=)
|
|
|
|
NM_000081.4(LYST):c.2931C>A (p.Phe977Leu)
|
|
|
|
NM_000081.4(LYST):c.2933A>G (p.Gln978Arg)
|
|
|
|
NM_000081.4(LYST):c.2940G>A (p.Gln980=)
|
|
|
|
NM_000081.4(LYST):c.2945A>G (p.Tyr982Cys)
|
|
|
|
NM_000081.4(LYST):c.2948G>A (p.Arg983Lys)
|
|
|
|
NM_000081.4(LYST):c.2952T>C (p.Leu984=)
|
|
|
|
NM_000081.4(LYST):c.2959T>G (p.Phe987Val)
|
|
|
|
NM_000081.4(LYST):c.2962C>A (p.Arg988=)
|
|
|
|
NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)
|
|
|
|
NM_000081.4(LYST):c.2967A>T (p.Val989=)
|
|
|
|
NM_000081.4(LYST):c.2968T>C (p.Cys990Arg)
|
|
|
|
NM_000081.4(LYST):c.296C>T (p.Pro99Leu)
|
|
|
|
NM_000081.4(LYST):c.2971C>T (p.His991Tyr)
|
|
|
|
NM_000081.4(LYST):c.2972A>G (p.His991Arg)
|
|
|
|
NM_000081.4(LYST):c.2976G>A (p.Lys992=)
|
|
|
|
NM_000081.4(LYST):c.297G>A (p.Pro99=)
|
|
|
|
NM_000081.4(LYST):c.297G>C (p.Pro99=)
|
|
|
|
NM_000081.4(LYST):c.2995C>G (p.Gln999Glu)
|
|
|
|
NM_000081.4(LYST):c.3001C>T (p.Leu1001=)
|
|
|
|
NM_000081.4(LYST):c.3003G>C (p.Leu1001=)
|
rs1572326456
|
|
|
NM_000081.4(LYST):c.3014A>G (p.His1005Arg)
|
|
|
|
NM_000081.4(LYST):c.3024G>A (p.Glu1008=)
|
|
|
|
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
|
|
|
|
NM_000081.4(LYST):c.3029G>C (p.Gly1010Ala)
|
|
|
|
NM_000081.4(LYST):c.3031A>G (p.Lys1011Glu)
|
|
|
|
NM_000081.4(LYST):c.3041G>C (p.Gly1014Ala)
|
|
|
|
NM_000081.4(LYST):c.3044A>T (p.Asp1015Val)
|
|
|
|
NM_000081.4(LYST):c.3047C>T (p.Thr1016Ile)
|
|
|
|
NM_000081.4(LYST):c.3059A>G (p.Glu1020Gly)
|
|
|
|
NM_000081.4(LYST):c.3061A>C (p.Asn1021His)
|
|
|
|
NM_000081.4(LYST):c.3062A>G (p.Asn1021Ser)
|
|
|
|
NM_000081.4(LYST):c.3065A>G (p.Gln1022Arg)
|
|
|
|
NM_000081.4(LYST):c.3066G>A (p.Gln1022=)
|
|
|
|
NM_000081.4(LYST):c.3073A>C (p.Asn1025His)
|
|
|
|
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs)
|
rs80338650
|
|
|
NM_000081.4(LYST):c.3078A>C (p.Arg1026Ser)
|
|
|
|
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)
|
rs80338651
|
|
|
NM_000081.4(LYST):c.3087A>G (p.Gln1029=)
|
|
|
|
NM_000081.4(LYST):c.3088C>T (p.Pro1030Ser)
|
|
|
|
NM_000081.4(LYST):c.3090T>C (p.Pro1030=)
|
|
|
|
NM_000081.4(LYST):c.3091A>G (p.Lys1031Glu)
|
|
|
|
NM_000081.4(LYST):c.3092A>G (p.Lys1031Arg)
|
|
|
|
NM_000081.4(LYST):c.3093G>A (p.Lys1031=)
|
|
|
|
NM_000081.4(LYST):c.3099T>G (p.Thr1033=)
|
|
|
|
NM_000081.4(LYST):c.3100A>G (p.Met1034Val)
|
|
|
|
NM_000081.4(LYST):c.310A>G (p.Ile104Val)
|
|
|
|
NM_000081.4(LYST):c.3110A>G (p.Asp1037Gly)
|
|
|
|
NM_000081.4(LYST):c.3114A>T (p.Leu1038Phe)
|
|
|
|
NM_000081.4(LYST):c.3119C>G (p.Ser1040Cys)
|
|
|
|
NM_000081.4(LYST):c.3123G>A (p.Leu1041=)
|
|
|
|
NM_000081.4(LYST):c.3125C>T (p.Ala1042Val)
|
|
|
|
NM_000081.4(LYST):c.3127A>G (p.Ile1043Val)
|
|
|
|
NM_000081.4(LYST):c.3128T>C (p.Ile1043Thr)
|
|
|
|
NM_000081.4(LYST):c.312_314del (p.Ile105del)
|
|
|
|
NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)
|
|
|
|
NM_000081.4(LYST):c.3137A>G (p.Asp1046Gly)
|
|
|
|
NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)
|
|
|
|
NM_000081.4(LYST):c.3142A>T (p.Ile1048Leu)
|
|
|
|
NM_000081.4(LYST):c.3153A>G (p.Glu1051=)
|
|
|
|
NM_000081.4(LYST):c.3156A>G (p.Leu1052=)
|
|
|
|
NM_000081.4(LYST):c.3159T>G (p.Gly1053=)
|
|
|
|
NM_000081.4(LYST):c.3160A>G (p.Ser1054Gly)
|
|
|
|
NM_000081.4(LYST):c.3167A>C (p.Lys1056Thr)
|
|
|
|
NM_000081.4(LYST):c.3170del (p.Lys1057fs)
|
|
|
|
NM_000081.4(LYST):c.3171_3172delinsAG (p.Ser1058Gly)
|
|
|
|
NM_000081.4(LYST):c.3173G>T (p.Ser1058Ile)
|
|
|
|
NM_000081.4(LYST):c.3179A>G (p.Asp1060Gly)
|
|
|
|
NM_000081.4(LYST):c.3183T>A (p.Ser1061Arg)
|
|
|
|
NM_000081.4(LYST):c.318G>A (p.Leu106=)
|
|
|
|
NM_000081.4(LYST):c.318G>C (p.Leu106=)
|
|
|
|
NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)
|
|
|
|
NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)
|
|
|
|
NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)
|
|
|
|
NM_000081.4(LYST):c.3206A>G (p.His1069Arg)
|
|
|
|
NM_000081.4(LYST):c.320C>A (p.Thr107Asn)
|
|
|
|
NM_000081.4(LYST):c.3223G>A (p.Val1075Met)
|
|
|
|
NM_000081.4(LYST):c.3234T>G (p.Val1078=)
|
|
|
|
NM_000081.4(LYST):c.3235T>G (p.Ser1079Ala)
|
|
|
|
NM_000081.4(LYST):c.3249C>T (p.Ala1083=)
|
|
|
|
NM_000081.4(LYST):c.324A>G (p.Lys108=)
|
|
|
|
NM_000081.4(LYST):c.3250G>T (p.Ala1084Ser)
|
|
|
|
NM_000081.4(LYST):c.3254C>T (p.Pro1085Leu)
|
|
|
|
NM_000081.4(LYST):c.3255C>T (p.Pro1085=)
|
|
|
|
NM_000081.4(LYST):c.3256G>A (p.Glu1086Lys)
|
|
|
|
NM_000081.4(LYST):c.3259G>A (p.Glu1087Lys)
|
|
|
|
NM_000081.4(LYST):c.3261A>G (p.Glu1087=)
|
|
|
|
NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg)
|
|
|
|
NM_000081.4(LYST):c.3267G>A (p.Lys1089=)
|
|
|
|
NM_000081.4(LYST):c.326A>T (p.Glu109Val)
|
|
|
|
NM_000081.4(LYST):c.3278G>A (p.Ser1093Asn)
|
|
|
|
NM_000081.4(LYST):c.3282A>G (p.Gln1094=)
|
|
|
|
NM_000081.4(LYST):c.3286A>G (p.Ser1096Gly)
|
|
|
|
NM_000081.4(LYST):c.3287G>A (p.Ser1096Asn)
|
|
|
|
NM_000081.4(LYST):c.3293C>T (p.Thr1098Ile)
|
|
|
|
NM_000081.4(LYST):c.3294C>T (p.Thr1098=)
|
|
|
|
NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)
|
|
|
|
NM_000081.4(LYST):c.3306T>C (p.Ser1102=)
|
|
|
|
NM_000081.4(LYST):c.3315T>A (p.Leu1105=)
|
|
|
|
NM_000081.4(LYST):c.3324C>T (p.Ala1108=)
|
|
|
|
NM_000081.4(LYST):c.3325C>G (p.Leu1109Val)
|
|
|
|
NM_000081.4(LYST):c.3331G>A (p.Ala1111Thr)
|
|
|
|
NM_000081.4(LYST):c.3333C>T (p.Ala1111=)
|
|
|
|
NM_000081.4(LYST):c.333C>T (p.Asn111=)
|
|
|
|
NM_000081.4(LYST):c.3345T>A (p.His1115Gln)
|
|
|
|
NM_000081.4(LYST):c.3352A>C (p.Arg1118=)
|
|
|
|
NM_000081.4(LYST):c.3362A>G (p.Gln1121Arg)
|
|
|
|
NM_000081.4(LYST):c.3370A>G (p.Met1124Val)
|
|
|
|
NM_000081.4(LYST):c.3375_3380del (p.1125_1126EL[1])
|
|
|
|
NM_000081.4(LYST):c.3378G>A (p.Leu1126=)
|
|
|
|
NM_000081.4(LYST):c.3381G>A (p.Glu1127=)
|
|
|
|
NM_000081.4(LYST):c.3386C>A (p.Pro1129His)
|
|
|
|
NM_000081.4(LYST):c.3387T>G (p.Pro1129=)
|
|
|
|
NM_000081.4(LYST):c.3392A>G (p.Gln1131Arg)
|
|
|
|
NM_000081.4(LYST):c.3393+11G>C
|
|
|
|
NM_000081.4(LYST):c.3393+19T>C
|
|
|
|
NM_000081.4(LYST):c.3394-11T>C
|
|
|
|
NM_000081.4(LYST):c.3394-12A>G
|
|
|
|
NM_000081.4(LYST):c.3394-14_3394-13del
|
|
|
|
NM_000081.4(LYST):c.3394-17C>T
|
|
|
|
NM_000081.4(LYST):c.3394-19C>T
|
|
|
|
NM_000081.4(LYST):c.3394-4T>G
|
|
|
|
NM_000081.4(LYST):c.3394-5C>T
|
|
|
|
NM_000081.4(LYST):c.3394-6C>T
|
|
|
|
NM_000081.4(LYST):c.3394-8T>G
|
|
|
|
NM_000081.4(LYST):c.3397T>C (p.Leu1133=)
|
|
|
|
NM_000081.4(LYST):c.3401C>T (p.Ser1134Phe)
|
|
|
|
NM_000081.4(LYST):c.3403G>A (p.Val1135Met)
|
|
|
|
NM_000081.4(LYST):c.3408A>G (p.Glu1136=)
|
|
|
|
NM_000081.4(LYST):c.3413T>C (p.Ile1138Thr)
|
|
|
|
NM_000081.4(LYST):c.3418T>C (p.Phe1140Leu)
|
|
|
|
NM_000081.4(LYST):c.3429G>A (p.Arg1143=)
|
|
|
|
NM_000081.4(LYST):c.3433del (p.His1145fs)
|
|
|
|
NM_000081.4(LYST):c.3434dup (p.His1145fs)
|
|
|
|
NM_000081.4(LYST):c.3436C>T (p.Leu1146Phe)
|
|
|
|
NM_000081.4(LYST):c.343C>G (p.Gln115Glu)
|
|
|
|
NM_000081.4(LYST):c.3448A>G (p.Lys1150Glu)
|
|
|
|
NM_000081.4(LYST):c.3451G>C (p.Val1151Leu)
|
|
|
|
NM_000081.4(LYST):c.3453G>A (p.Val1151=)
|
|
|
|
NM_000081.4(LYST):c.3453G>T (p.Val1151=)
|
|
|
|
NM_000081.4(LYST):c.3455T>C (p.Ile1152Thr)
|
|
|
|
NM_000081.4(LYST):c.345A>G (p.Gln115=)
|
|
|
|
NM_000081.4(LYST):c.3467T>C (p.Leu1156Pro)
|
|
|
|
NM_000081.4(LYST):c.3474G>T (p.Lys1158Asn)
|
|
|
|
NM_000081.4(LYST):c.3480A>G (p.Leu1160=)
|
|
|
|
NM_000081.4(LYST):c.3483T>C (p.Phe1161=)
|
|
|
|
NM_000081.4(LYST):c.348A>G (p.Arg116=)
|
|
|
|
NM_000081.4(LYST):c.3497G>A (p.Arg1166Gln)
|
|
|
|
NM_000081.4(LYST):c.3498A>G (p.Arg1166=)
|
|
|
|
NM_000081.4(LYST):c.3499G>A (p.Val1167Ile)
|
|
|
|
NM_000081.4(LYST):c.3501T>G (p.Val1167=)
|
|
|
|
NM_000081.4(LYST):c.3505C>A (p.Leu1169Ile)
|
|
|
|
NM_000081.4(LYST):c.3505C>G (p.Leu1169Val)
|
|
|
|
NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)
|
|
|
|
NM_000081.4(LYST):c.3515A>T (p.Tyr1172Phe)
|
|
|
|
NM_000081.4(LYST):c.3516T>C (p.Tyr1172=)
|
|
|
|
NM_000081.4(LYST):c.3518C>T (p.Ser1173Leu)
|
|
|
|
NM_000081.4(LYST):c.3529_3531del (p.Glu1177del)
|
|
|
|
NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)
|
|
|
|
NM_000081.4(LYST):c.353C>T (p.Thr118Ile)
|
|
|
|
NM_000081.4(LYST):c.3544A>G (p.Met1182Val)
|
|
|
|
NM_000081.4(LYST):c.3549T>G (p.Thr1183=)
|
|
|
|
NM_000081.4(LYST):c.3553A>G (p.Lys1185Glu)
|
|
|
|
NM_000081.4(LYST):c.3555+10A>G
|
|
|
|
NM_000081.4(LYST):c.3555+12A>T
|
|
|
|
NM_000081.4(LYST):c.3555+17A>G
|
|
|
|
NM_000081.4(LYST):c.3555+18T>C
|
|
|
|
NM_000081.4(LYST):c.3555+19A>G
|
|
|
|
NM_000081.4(LYST):c.3556-13C>T
|
|
|
|
NM_000081.4(LYST):c.3556-4A>C
|
|
|
|
NM_000081.4(LYST):c.3556-4A>G
|
|
|
|
NM_000081.4(LYST):c.3556-6T>C
|
|
|
|
NM_000081.4(LYST):c.3564A>G (p.Gln1188=)
|
|
|
|
NM_000081.4(LYST):c.3571G>A (p.Glu1191Lys)
|
|
|
|
NM_000081.4(LYST):c.3573A>C (p.Glu1191Asp)
|
|
|
|
NM_000081.4(LYST):c.3574G>T (p.Glu1192Ter)
|
|
|
|
NM_000081.4(LYST):c.3577T>C (p.Leu1193=)
|
|
|
|
NM_000081.4(LYST):c.3579G>A (p.Leu1193=)
|
|
|
|
NM_000081.4(LYST):c.3588G>A (p.Gln1196=)
|
|
|
|
NM_000081.4(LYST):c.3591T>G (p.Pro1197=)
|
|
|
|
NM_000081.4(LYST):c.3596A>G (p.Asp1199Gly)
|
|
|
|
NM_000081.4(LYST):c.3601del (p.Ser1201fs)
|
|
|
|
NM_000081.4(LYST):c.3605AAG[1] (p.Glu1203del)
|
|
|
|
NM_000081.4(LYST):c.360A>G (p.Glu120=)
|
|
|
|
NM_000081.4(LYST):c.3613G>A (p.Glu1205Lys)
|
|
|
|
NM_000081.4(LYST):c.3616G>C (p.Asp1206His)
|
|
|
|
NM_000081.4(LYST):c.3620C>T (p.Ser1207Phe)
|
|
|
|
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
|
|
|
|
NM_000081.4(LYST):c.3624G>A (p.Gln1208=)
|
|
|
|
NM_000081.4(LYST):c.3624G>C (p.Gln1208His)
|
|
|
|
NM_000081.4(LYST):c.3626G>A (p.Cys1209Tyr)
|
|
|
|
NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp)
|
|
|
|
NM_000081.4(LYST):c.3630T>C (p.Cys1210=)
|
|
|
|
NM_000081.4(LYST):c.3631A>C (p.Ser1211Arg)
|
|
|
|
NM_000081.4(LYST):c.3643T>C (p.Leu1215=)
|
|
|
|
NM_000081.4(LYST):c.3643T>G (p.Leu1215Val)
|
|
|
|
NM_000081.4(LYST):c.3644T>C (p.Leu1215Ser)
|
|
|
|
NM_000081.4(LYST):c.3646G>A (p.Val1216Ile)
|
|
|
|
NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)
|
|
|
|
NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del)
|
rs770679237
|
|
|
NM_000081.4(LYST):c.3651A>G (p.Glu1217=)
|
|
|
|
NM_000081.4(LYST):c.3658G>A (p.Gly1220Ser)
|
|
|
|
NM_000081.4(LYST):c.3659G>T (p.Gly1220Val)
|
|
|
|
NM_000081.4(LYST):c.3663C>T (p.Tyr1221=)
|
|
|
|
NM_000081.4(LYST):c.3675T>C (p.Ser1225=)
|
|
|
|
NM_000081.4(LYST):c.367C>T (p.His123Tyr)
|
|
|
|
NM_000081.4(LYST):c.3692A>T (p.Asp1231Val)
|
|
|
|
NM_000081.4(LYST):c.3695G>A (p.Gly1232Asp)
|
|
|
|
NM_000081.4(LYST):c.3696C>T (p.Gly1232=)
|
|
|
|
NM_000081.4(LYST):c.3697G>A (p.Glu1233Lys)
|
|
|
|
NM_000081.4(LYST):c.3703C>A (p.Gln1235Lys)
|
|
|
|
NM_000081.4(LYST):c.3704A>C (p.Gln1235Pro)
|
|
|
|
NM_000081.4(LYST):c.3712+12T>C
|
|
|
|
NM_000081.4(LYST):c.3712+13T>G
|
|
|
|
NM_000081.4(LYST):c.3712+14G>A
|
|
|
|
NM_000081.4(LYST):c.3712+19G>A
|
|
|
|
NM_000081.4(LYST):c.3712+9T>C
|
|
|
|
NM_000081.4(LYST):c.3713-11T>C
|
|
|
|
NM_000081.4(LYST):c.3713-12T>C
|
|
|
|
NM_000081.4(LYST):c.3713-16G>A
|
|
|
|
NM_000081.4(LYST):c.3713-17C>T
|
|
|
|
NM_000081.4(LYST):c.3713-2A>C
|
|
|
|
NM_000081.4(LYST):c.3713-4T>G
|
|
|
|
NM_000081.4(LYST):c.3713-8C>G
|
|
|
|
NM_000081.4(LYST):c.3713G>A (p.Gly1238Glu)
|
|
|
|
NM_000081.4(LYST):c.3714G>A (p.Gly1238=)
|
|
|
|
NM_000081.4(LYST):c.3728C>A (p.Ser1243Tyr)
|
|
|
|
NM_000081.4(LYST):c.3729T>C (p.Ser1243=)
|
|
|
|
NM_000081.4(LYST):c.372A>G (p.Leu124=)
|
|
|
|
NM_000081.4(LYST):c.3730G>C (p.Glu1244Gln)
|
|
|
|
NM_000081.4(LYST):c.3736_3737del (p.Glu1246fs)
|
|
|
|
NM_000081.4(LYST):c.3739G>C (p.Gly1247Arg)
|
|
|
|
NM_000081.4(LYST):c.3746G>A (p.Ser1249Asn)
|
|
|
|
NM_000081.4(LYST):c.3754A>G (p.Ser1252Gly)
|
|
|
|
NM_000081.4(LYST):c.3757A>C (p.Ser1253Arg)
|
|
|
|
NM_000081.4(LYST):c.3762A>C (p.Pro1254=)
|
|
|
|
NM_000081.4(LYST):c.3762A>G (p.Pro1254=)
|
|
|
|
NM_000081.4(LYST):c.3765T>C (p.Asn1255=)
|
|
|
|
NM_000081.4(LYST):c.3770T>A (p.Leu1257Ter)
|
|
|
|
NM_000081.4(LYST):c.3774C>T (p.Leu1258=)
|
|
|
|
NM_000081.4(LYST):c.3775G>A (p.Glu1259Lys)
|
|
|
|
NM_000081.4(LYST):c.3780C>T (p.Asn1260=)
|
|
|
|
NM_000081.4(LYST):c.3783C>A (p.Leu1261=)
|
|
|
|
NM_000081.4(LYST):c.3789A>C (p.Gln1263His)
|
|
|
|
NM_000081.4(LYST):c.3795A>T (p.Glu1265Asp)
|
|
|
|
NM_000081.4(LYST):c.37C>T (p.Leu13=)
|
|
|
|
NM_000081.4(LYST):c.3801T>A (p.Ile1267=)
|
|
|
|
NM_000081.4(LYST):c.3813T>A (p.Ile1271=)
|
|
|
|
NM_000081.4(LYST):c.3813T>C (p.Ile1271=)
|
|
|
|
NM_000081.4(LYST):c.3817_3821dup (p.Glu1275fs)
|
|
|
|
NM_000081.4(LYST):c.3824A>G (p.Glu1275Gly)
|
|
|
|
NM_000081.4(LYST):c.3831T>C (p.Asn1277=)
|
|
|
|
NM_000081.4(LYST):c.3834G>C (p.Leu1278Phe)
|
|
|
|
NM_000081.4(LYST):c.3837T>C (p.Leu1279=)
|
|
|
|
NM_000081.4(LYST):c.383C>A (p.Ala128Asp)
|
|
|
|
NM_000081.4(LYST):c.3844A>G (p.Ser1282Gly)
|
|
|
|
NM_000081.4(LYST):c.3850G>C (p.Ala1284Pro)
|
|
|
|
NM_000081.4(LYST):c.3851C>T (p.Ala1284Val)
|
|
|
|
NM_000081.4(LYST):c.3852C>A (p.Ala1284=)
|
|
|
|
NM_000081.4(LYST):c.3862G>A (p.Val1288Met)
|
|
|
|
NM_000081.4(LYST):c.3885T>A (p.Ser1295Arg)
|
|
|
|
NM_000081.4(LYST):c.388T>A (p.Ser130Thr)
|
|
|
|
NM_000081.4(LYST):c.3909A>G (p.Lys1303=)
|
|
|
|
NM_000081.4(LYST):c.3910del (p.Glu1304fs)
|
|
|
|
NM_000081.4(LYST):c.3911A>G (p.Glu1304Gly)
|
|
|
|
NM_000081.4(LYST):c.3912A>G (p.Glu1304=)
|
|
|
|
NM_000081.4(LYST):c.3924T>C (p.Phe1308=)
|
|
|
|
NM_000081.4(LYST):c.3939+11C>T
|
|
|
|
NM_000081.4(LYST):c.3939+12A>G
|
|
|
|
NM_000081.4(LYST):c.3939+17G>A
|
|
|
|
NM_000081.4(LYST):c.3939+7A>C
|
|
|
|
NM_000081.4(LYST):c.3939+8A>T
|
|
|
|
NM_000081.4(LYST):c.3939+9T>A
|
|
|
|
NM_000081.4(LYST):c.3940-12T>G
|
|
|
|
NM_000081.4(LYST):c.3940-16T>A
|
|
|
|
NM_000081.4(LYST):c.3940-17dup
|
|
|
|
NM_000081.4(LYST):c.3940-18A>G
|
|
|
|
NM_000081.4(LYST):c.3940-9A>G
|
|
|
|
NM_000081.4(LYST):c.3943A>C (p.Thr1315Pro)
|
|
|
|
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
|
|
|
|
NM_000081.4(LYST):c.3945T>G (p.Thr1315=)
|
|
|
|
NM_000081.4(LYST):c.3958T>A (p.Leu1320Ile)
|
|
|
|
NM_000081.4(LYST):c.3958T>C (p.Leu1320=)
|
|
|
|
NM_000081.4(LYST):c.395A>G (p.Gln132Arg)
|
|
|
|
NM_000081.4(LYST):c.3960A>G (p.Leu1320=)
|
|
|
|
NM_000081.4(LYST):c.3965G>T (p.Gly1322Val)
|
|
|
|
NM_000081.4(LYST):c.3966G>C (p.Gly1322=)
|
|
|
|
NM_000081.4(LYST):c.3966G>T (p.Gly1322=)
|
|
|
|
NM_000081.4(LYST):c.3971T>C (p.Leu1324Ser)
|
|
|
|
NM_000081.4(LYST):c.3972G>T (p.Leu1324Phe)
|
|
|
|
NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)
|
|
|
|
NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)
|
|
|
|
NM_000081.4(LYST):c.3996T>G (p.Ser1332=)
|
|
|
|
NM_000081.4(LYST):c.3996del (p.Asp1333fs)
|
|
|
|
NM_000081.4(LYST):c.3997G>C (p.Asp1333His)
|
|
|
|
NM_000081.4(LYST):c.39G>A (p.Leu13=)
|
|
|
|
NM_000081.4(LYST):c.4002T>C (p.Phe1334=)
|
|
|
|
NM_000081.4(LYST):c.4005A>T (p.Gln1335His)
|
|
|
|
NM_000081.4(LYST):c.4006+12C>G
|
|
|
|
NM_000081.4(LYST):c.4006+13T>C
|
|
|
|
NM_000081.4(LYST):c.4006+14G>A
|
|
|
|
NM_000081.4(LYST):c.4006+14_4006+15del
|
|
|
|
NM_000081.4(LYST):c.4006+15T>G
|
|
|
|
NM_000081.4(LYST):c.4006+16T>C
|
|
|
|
NM_000081.4(LYST):c.4006+17T>C
|
|
|
|
NM_000081.4(LYST):c.4006+2T>C
|
|
|
|
NM_000081.4(LYST):c.4006+9A>G
|
|
|
|
NM_000081.4(LYST):c.4007-12T>G
|
|
|
|
NM_000081.4(LYST):c.4007-12dup
|
|
|
|
NM_000081.4(LYST):c.4007-13_4007-12del
|
|
|
|
NM_000081.4(LYST):c.4007-17C>T
|
|
|
|
NM_000081.4(LYST):c.4007-20dup
|
|
|
|
NM_000081.4(LYST):c.4008A>G (p.Ala1336=)
|
|
|
|
NM_000081.4(LYST):c.4020A>G (p.Val1340=)
|
|
|
|
NM_000081.4(LYST):c.4032T>G (p.Leu1344=)
|
|
|
|
NM_000081.4(LYST):c.4033T>C (p.Leu1345=)
|
|
|
|
NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe)
|
|
|
|
NM_000081.4(LYST):c.4044G>A (p.Leu1348=)
|
|
|
|
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter)
|
rs80338654
|
|
|
NM_000081.4(LYST):c.4053A>G (p.Ser1351=)
|
|
|
|
NM_000081.4(LYST):c.4054A>G (p.Arg1352Gly)
|
|
|
|
NM_000081.4(LYST):c.4056A>G (p.Arg1352=)
|
|
|
|
NM_000081.4(LYST):c.4058C>T (p.Thr1353Ile)
|
|
|
|
NM_000081.4(LYST):c.4059A>G (p.Thr1353=)
|
|
|
|
NM_000081.4(LYST):c.4069G>A (p.Glu1357Lys)
|
|
|
|
NM_000081.4(LYST):c.406A>G (p.Lys136Glu)
|
|
|
|
NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)
|
|
|
|
NM_000081.4(LYST):c.4072C>T (p.Leu1358=)
|
|
|
|
NM_000081.4(LYST):c.4075A>G (p.Thr1359Ala)
|
|
|
|
NM_000081.4(LYST):c.4077C>T (p.Thr1359=)
|
|
|
|
NM_000081.4(LYST):c.4081C>T (p.Leu1361Phe)
|
|
|
|
NM_000081.4(LYST):c.4084T>G (p.Leu1362Val)
|
|
|
|
NM_000081.4(LYST):c.4095T>C (p.Phe1365=)
|
|
|
|
NM_000081.4(LYST):c.4099G>A (p.Glu1367Lys)
|
|
|
|
NM_000081.4(LYST):c.4100A>G (p.Glu1367Gly)
|
|
|
|
NM_000081.4(LYST):c.4101G>A (p.Glu1367=)
|
|
|
|
NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)
|
|
|
|
NM_000081.4(LYST):c.4110T>G (p.Pro1370=)
|
|
|
|
NM_000081.4(LYST):c.4112G>A (p.Cys1371Tyr)
|
|
|
|
NM_000081.4(LYST):c.4116+12A>G
|
|
|
|
NM_000081.4(LYST):c.4116+15A>G
|
|
|
|
NM_000081.4(LYST):c.4116+17T>G
|
|
|
|
NM_000081.4(LYST):c.4116+1G>A
|
|
|
|
NM_000081.4(LYST):c.4117-12C>T
|
|
|
|
NM_000081.4(LYST):c.4117-17T>C
|
|
|
|
NM_000081.4(LYST):c.4117-18G>C
|
|
|
|
NM_000081.4(LYST):c.4117-18_4117-15del
|
|
|
|
NM_000081.4(LYST):c.4117-2A>G
|
|
|
|
NM_000081.4(LYST):c.4123C>A (p.Leu1375Ile)
|
|
|
|
NM_000081.4(LYST):c.4129C>T (p.Leu1377=)
|
|
|
|
NM_000081.4(LYST):c.4131G>T (p.Leu1377=)
|
|
|
|
NM_000081.4(LYST):c.4132G>A (p.Gly1378Ser)
|
|
|
|
NM_000081.4(LYST):c.4133G>T (p.Gly1378Val)
|
|
|
|
NM_000081.4(LYST):c.4161T>C (p.Thr1387=)
|
|
|
|
NM_000081.4(LYST):c.4162A>G (p.Thr1388Ala)
|
|
|
|
NM_000081.4(LYST):c.4165A>G (p.Met1389Val)
|
|
|
|
NM_000081.4(LYST):c.4170C>T (p.Ser1390=)
|
|
|
|
NM_000081.4(LYST):c.4185A>G (p.Leu1395=)
|
|
|
|
NM_000081.4(LYST):c.4187C>G (p.Thr1396Ser)
|
|
|
|
NM_000081.4(LYST):c.4188C>T (p.Thr1396=)
|
|
|
|
NM_000081.4(LYST):c.418T>C (p.Phe140Leu)
|
|
|
|
NM_000081.4(LYST):c.4200G>A (p.Leu1400=)
|
|
|
|
NM_000081.4(LYST):c.4201C>T (p.His1401Tyr)
|
|
|
|
NM_000081.4(LYST):c.4203C>T (p.His1401=)
|
|
|
|
NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)
|
|
|
|
NM_000081.4(LYST):c.420T>C (p.Phe140=)
|
|
|
|
NM_000081.4(LYST):c.4221C>T (p.Asn1407=)
|
|
|
|
NM_000081.4(LYST):c.4222G>A (p.Gly1408Ser)
|
|
|
|
NM_000081.4(LYST):c.4224T>C (p.Gly1408=)
|
|
|
|
NM_000081.4(LYST):c.4228T>A (p.Ser1410Thr)
|
|
|
|
NM_000081.4(LYST):c.422G>A (p.Arg141Gln)
|
|
|
|
NM_000081.4(LYST):c.4230A>C (p.Ser1410=)
|
|
|
|
NM_000081.4(LYST):c.4235A>G (p.Gln1412Arg)
|
|
|
|
NM_000081.4(LYST):c.4239G>A (p.Lys1413=)
|
|
|
|
NM_000081.4(LYST):c.4245T>G (p.Pro1415=)
|
|
|
|
NM_000081.4(LYST):c.4247G>A (p.Gly1416Glu)
|
|
|
|
NM_000081.4(LYST):c.4258A>G (p.Ser1420Gly)
|
|
|
|
NM_000081.4(LYST):c.4264del (p.Ala1422fs)
|
|
|
|
NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)
|
|
|
|
NM_000081.4(LYST):c.4271G>A (p.Gly1424Asp)
|
|
|
|
NM_000081.4(LYST):c.4274del (p.Leu1425fs)
|
rs80338656
|
|
|
NM_000081.4(LYST):c.4275A>G (p.Leu1425=)
|
|
|
|
NM_000081.4(LYST):c.427A>C (p.Ser143Arg)
|
|
|
|
NM_000081.4(LYST):c.4288C>T (p.Arg1430Ter)
|
rs1468055437
|
|
|
NM_000081.4(LYST):c.4289G>A (p.Arg1430Gln)
|
|
|
|
NM_000081.4(LYST):c.4293T>G (p.Val1431=)
|
|
|
|
NM_000081.4(LYST):c.4297C>A (p.Arg1433=)
|
|
|
|
NM_000081.4(LYST):c.4297C>T (p.Arg1433Trp)
|
|
|
|
NM_000081.4(LYST):c.4298G>A (p.Arg1433Gln)
|
|
|
|
NM_000081.4(LYST):c.42C>T (p.Thr14=)
|
|
|
|
NM_000081.4(LYST):c.4300A>C (p.Ser1434Arg)
|
|
|
|
NM_000081.4(LYST):c.4309G>A (p.Glu1437Lys)
|
|
|
|
NM_000081.4(LYST):c.4311G>A (p.Glu1437=)
|
|
|
|
NM_000081.4(LYST):c.4317T>C (p.Asp1439=)
|
|
|
|
NM_000081.4(LYST):c.431GAC[1] (p.Arg145del)
|
|
|
|
NM_000081.4(LYST):c.4322_4325del (p.Glu1441fs)
|
|
|
|
NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)
|
|
|
|
NM_000081.4(LYST):c.4325G>A (p.Ser1442Asn)
|
rs1271144759
|
|
|
NM_000081.4(LYST):c.432A>G (p.Arg144=)
|
|
|
|
NM_000081.4(LYST):c.4330C>T (p.Pro1444Ser)
|
|
|
|
NM_000081.4(LYST):c.4338G>A (p.Arg1446=)
|
|
|
|
NM_000081.4(LYST):c.433C>T (p.Arg145Ter)
|
|
|
|
NM_000081.4(LYST):c.4347A>G (p.Ser1449=)
|
|
|
|
NM_000081.4(LYST):c.434G>A (p.Arg145Gln)
|
|
|
|
NM_000081.4(LYST):c.4357A>G (p.Ile1453Val)
|
|
|
|
NM_000081.4(LYST):c.4360G>T (p.Ala1454Ser)
|
|
|
|
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp)
|
rs80338655
|
|
|
NM_000081.4(LYST):c.4371C>T (p.His1457=)
|
|
|
|
NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)
|
|
|
|
NM_000081.4(LYST):c.4377G>A (p.Pro1459=)
|
|
|
|
NM_000081.4(LYST):c.4380G>T (p.Leu1460Phe)
|
rs768247031
|
|
|
NM_000081.4(LYST):c.4381C>T (p.Leu1461=)
|
|
|
|
NM_000081.4(LYST):c.4386G>A (p.Gly1462=)
|
rs1572270183
|
|
|
NM_000081.4(LYST):c.438G>A (p.Gln146=)
|
|
|
|
NM_000081.4(LYST):c.4397G>T (p.Trp1466Leu)
|
|
|
|
NM_000081.4(LYST):c.439C>T (p.Arg147Cys)
|
|
|
|
NM_000081.4(LYST):c.43G>A (p.Asp15Asn)
|
|
|
|
NM_000081.4(LYST):c.4403A>G (p.His1468Arg)
|
|
|
|
NM_000081.4(LYST):c.4404C>T (p.His1468=)
|
|
|
|
NM_000081.4(LYST):c.4416T>C (p.Gly1472=)
|
|
|
|
NM_000081.4(LYST):c.4421G>A (p.Ser1474Asn)
|
|
|
|
NM_000081.4(LYST):c.4421G>C (p.Ser1474Thr)
|
|
|
|
NM_000081.4(LYST):c.4428C>G (p.Ser1476=)
|
|
|
|
NM_000081.4(LYST):c.4429C>T (p.Leu1477=)
|
|
|
|
NM_000081.4(LYST):c.4434G>A (p.Trp1478Ter)
|
|
|
|
NM_000081.4(LYST):c.4440T>C (p.Asn1480=)
|
|
|
|
NM_000081.4(LYST):c.4446G>A (p.Glu1482=)
|
|
|
|
NM_000081.4(LYST):c.4448G>A (p.Cys1483Tyr)
|
|
|
|
NM_000081.4(LYST):c.4449T>C (p.Cys1483=)
|
|
|
|
NM_000081.4(LYST):c.4450A>G (p.Ile1484Val)
|
|
|
|
NM_000081.4(LYST):c.4469del (p.Thr1490fs)
|
|
|
|
NM_000081.4(LYST):c.446T>C (p.Ile149Thr)
|
|
|
|
NM_000081.4(LYST):c.4479del (p.Gly1494fs)
|
|
|
|
NM_000081.4(LYST):c.4484A>G (p.Lys1495Arg)
|
|
|
|
NM_000081.4(LYST):c.4485G>C (p.Lys1495Asn)
|
|
|
|
NM_000081.4(LYST):c.4487A>C (p.Lys1496Thr)
|
|
|
|
NM_000081.4(LYST):c.4488G>T (p.Lys1496Asn)
|
|
|
|
NM_000081.4(LYST):c.4498_4502del (p.Arg1500fs)
|
|
|
|
NM_000081.4(LYST):c.449C>T (p.Thr150Ile)
|
|
|
|
NM_000081.4(LYST):c.4501A>C (p.Asn1501His)
|
|
|
|
NM_000081.4(LYST):c.4508C>T (p.Ser1503Leu)
|
|
|
|
NM_000081.4(LYST):c.4529G>C (p.Ser1510Thr)
|
|
|
|
NM_000081.4(LYST):c.452A>G (p.His151Arg)
|
|
|
|
NM_000081.4(LYST):c.4538G>A (p.Gly1513Asp)
|
|
|
|
NM_000081.4(LYST):c.4543+10C>T
|
|
|
|
NM_000081.4(LYST):c.4543+13G>C
|
|
|
|
NM_000081.4(LYST):c.4543+14A>T
|
|
|
|
NM_000081.4(LYST):c.4543+17A>T
|
|
|
|
NM_000081.4(LYST):c.4544-10T>C
|
|
|
|
NM_000081.4(LYST):c.4544-11T>G
|
|
|
|
NM_000081.4(LYST):c.4544-15A>G
|
|
|
|
NM_000081.4(LYST):c.4544-18A>G
|
|
|
|
NM_000081.4(LYST):c.4544-18A>T
|
|
|
|
NM_000081.4(LYST):c.4544-19T>C
|
|
|
|
NM_000081.4(LYST):c.4544-3T>C
|
|
|
|
NM_000081.4(LYST):c.4544-5T>C
|
|
|
|
NM_000081.4(LYST):c.4545G>A (p.Glu1515=)
|
|
|
|
NM_000081.4(LYST):c.4545G>C (p.Glu1515Asp)
|
|
|
|
NM_000081.4(LYST):c.4548C>A (p.Ser1516Arg)
|
|
|
|
NM_000081.4(LYST):c.4549G>A (p.Asp1517Asn)
|
|
|
|
NM_000081.4(LYST):c.4551C>T (p.Asp1517=)
|
|
|
|
NM_000081.4(LYST):c.455G>A (p.Arg152His)
|
|
|
|
NM_000081.4(LYST):c.4577A>G (p.Asn1526Ser)
|
|
|
|
NM_000081.4(LYST):c.4578T>C (p.Asn1526=)
|
|
|
|
NM_000081.4(LYST):c.4588A>G (p.Arg1530Gly)
|
|
|
|
NM_000081.4(LYST):c.4589G>C (p.Arg1530Thr)
|
|
|
|
NM_000081.4(LYST):c.4590A>T (p.Arg1530Ser)
|
|
|
|
NM_000081.4(LYST):c.4593C>T (p.Leu1531=)
|
|
|
|
NM_000081.4(LYST):c.45T>C (p.Asp15=)
|
rs1675833748
|
|
|
NM_000081.4(LYST):c.4615A>G (p.Ile1539Val)
|
|
|
|
NM_000081.4(LYST):c.4620T>C (p.Ile1540=)
|
|
|
|
NM_000081.4(LYST):c.4621T>A (p.Ser1541Thr)
|
|
|
|
NM_000081.4(LYST):c.4637C>G (p.Ala1546Gly)
|
|
|
|
NM_000081.4(LYST):c.4638G>A (p.Ala1546=)
|
|
|
|
NM_000081.4(LYST):c.4639T>C (p.Leu1547=)
|
|
|
|
NM_000081.4(LYST):c.4647C>T (p.Ile1549=)
|
|
|
|
NM_000081.4(LYST):c.4649A>G (p.Gln1550Arg)
|
|
|
|
NM_000081.4(LYST):c.4651G>A (p.Val1551Met)
|
|
|
|
NM_000081.4(LYST):c.4661A>T (p.Asp1554Val)
|
|
|
|
NM_000081.4(LYST):c.4665C>T (p.Pro1555=)
|
|
|
|
NM_000081.4(LYST):c.4670A>G (p.Asn1557Ser)
|
|
|
|
NM_000081.4(LYST):c.4676C>T (p.Thr1559Ile)
|
|
|
|
NM_000081.4(LYST):c.4677T>C (p.Thr1559=)
|
|
|
|
NM_000081.4(LYST):c.4678C>T (p.Leu1560Phe)
|
|
|
|
NM_000081.4(LYST):c.4682T>C (p.Ile1561Thr)
|
|
|
|
NM_000081.4(LYST):c.4688+10A>G
|
|
|
|
NM_000081.4(LYST):c.4688+12C>T
|
|
|
|
NM_000081.4(LYST):c.4688+14T>C
|
|
|
|
NM_000081.4(LYST):c.4688+15C>G
|
|
|
|
NM_000081.4(LYST):c.4688+15C>T
|
|
|
|
NM_000081.4(LYST):c.4688+19C>A
|
|
|
|
NM_000081.4(LYST):c.4688+6G>A
|
|
|
|
NM_000081.4(LYST):c.4688G>A (p.Arg1563His)
|
rs80338657
|
|
|
NM_000081.4(LYST):c.4689-12C>T
|
|
|
|
NM_000081.4(LYST):c.4689-13T>G
|
|
|
|
NM_000081.4(LYST):c.4689-17T>C
|
|
|
|
NM_000081.4(LYST):c.4689-18T>A
|
|
|
|
NM_000081.4(LYST):c.4689-20C>T
|
|
|
|
NM_000081.4(LYST):c.4689-4G>A
|
|
|
|
NM_000081.4(LYST):c.4689-7T>C
|
rs1572256602
|
|
|
NM_000081.4(LYST):c.4690G>A (p.Val1564Met)
|
|
|
|
NM_000081.4(LYST):c.4692G>C (p.Val1564=)
|
|
|
|
NM_000081.4(LYST):c.4696A>T (p.Met1566Leu)
|
|
|
|
NM_000081.4(LYST):c.4710T>C (p.Asp1570=)
|
|
|
|
NM_000081.4(LYST):c.4713C>T (p.Asp1571=)
|
|
|
|
NM_000081.4(LYST):c.4716G>A (p.Met1572Ile)
|
|
|
|
NM_000081.4(LYST):c.4719A>G (p.Lys1573=)
|
|
|
|
NM_000081.4(LYST):c.471T>C (p.Asp157=)
|
|
|
|
NM_000081.4(LYST):c.4720G>A (p.Ala1574Thr)
|
|
|
|
NM_000081.4(LYST):c.4728A>G (p.Leu1576=)
|
|
|
|
NM_000081.4(LYST):c.4729C>T (p.Leu1577=)
|
|
|
|
NM_000081.4(LYST):c.4734A>G (p.Ala1578=)
|
|
|
|
NM_000081.4(LYST):c.474A>G (p.Ala158=)
|
|
|
|
NM_000081.4(LYST):c.4754A>G (p.Asn1585Ser)
|
|
|
|
NM_000081.4(LYST):c.4755T>C (p.Asn1585=)
|
|
|
|
NM_000081.4(LYST):c.4771A>G (p.Lys1591Glu)
|
|
|
|
NM_000081.4(LYST):c.4773A>G (p.Lys1591=)
|
|
|
|
NM_000081.4(LYST):c.4779A>G (p.Gln1593=)
|
|
|
|
NM_000081.4(LYST):c.4786G>A (p.Val1596Ile)
|
|
|
|
NM_000081.4(LYST):c.4791C>T (p.Leu1597=)
|
|
|
|
NM_000081.4(LYST):c.4793C>A (p.Thr1598Asn)
|
|
|
|
NM_000081.4(LYST):c.4793C>G (p.Thr1598Ser)
|
|
|
|
NM_000081.4(LYST):c.4793C>T (p.Thr1598Ile)
|
|
|
|
NM_000081.4(LYST):c.4801C>A (p.Gln1601Lys)
|
|
|
|
NM_000081.4(LYST):c.4803G>T (p.Gln1601His)
|
|
|
|
NM_000081.4(LYST):c.4805A>C (p.Gln1602Pro)
|
|
|
|
NM_000081.4(LYST):c.4808C>T (p.Pro1603Leu)
|
|
|
|
NM_000081.4(LYST):c.4812A>G (p.Gln1604=)
|
|
|
|
NM_000081.4(LYST):c.4815G>A (p.Gly1605=)
|
|
|
|
NM_000081.4(LYST):c.4833G>A (p.Gly1611=)
|
|
|
|
NM_000081.4(LYST):c.4836A>G (p.Lys1612=)
|
|
|
|
NM_000081.4(LYST):c.4839C>T (p.Ile1613=)
|
|
|
|
NM_000081.4(LYST):c.483A>G (p.Thr161=)
|
|
|
|
NM_000081.4(LYST):c.4845A>G (p.Ile1615Met)
|
|
|
|
NM_000081.4(LYST):c.484C>T (p.Gln162Ter)
|
|
|
|
NM_000081.4(LYST):c.4851C>T (p.Val1617=)
|
|
|
|
NM_000081.4(LYST):c.4853C>G (p.Ser1618Cys)
|
|
|
|
NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)
|
|
|
|
NM_000081.4(LYST):c.4862+12T>C
|
|
|
|
NM_000081.4(LYST):c.4862+2T>A
|
|
|
|
NM_000081.4(LYST):c.4862+3A>G
|
|
|
|
NM_000081.4(LYST):c.4863-11T>G
|
|
|
|
NM_000081.4(LYST):c.4863-13G>C
|
|
|
|
NM_000081.4(LYST):c.4863-1G>C
|
|
|
|
NM_000081.4(LYST):c.4863-4G>T
|
|
|
|
NM_000081.4(LYST):c.4866G>T (p.Lys1622Asn)
|
|
|
|
NM_000081.4(LYST):c.4872T>C (p.Asp1624=)
|
|
|
|
NM_000081.4(LYST):c.4873G>A (p.Val1625Ile)
|
|
|
|
NM_000081.4(LYST):c.4876A>C (p.Thr1626Pro)
|
|
|
|
NM_000081.4(LYST):c.4876A>G (p.Thr1626Ala)
|
|
|
|
NM_000081.4(LYST):c.4886T>G (p.Phe1629Cys)
|
|
|
|
NM_000081.4(LYST):c.4893T>C (p.Leu1631=)
|
|
|
|
NM_000081.4(LYST):c.4896A>G (p.Pro1632=)
|
|
|
|
NM_000081.4(LYST):c.48C>T (p.Val16=)
|
|
|
|
NM_000081.4(LYST):c.4900A>T (p.Lys1634Ter)
|
|
|
|
NM_000081.4(LYST):c.4904C>G (p.Thr1635Arg)
|
|
|
|
NM_000081.4(LYST):c.4904C>T (p.Thr1635Ile)
|
|
|
|
NM_000081.4(LYST):c.4905A>G (p.Thr1635=)
|
|
|
|
NM_000081.4(LYST):c.4920T>G (p.Asp1640Glu)
|
|
|
|
NM_000081.4(LYST):c.4929A>G (p.Lys1643=)
|
rs750662250
|
|
|
NM_000081.4(LYST):c.4932A>G (p.Thr1644=)
|
|
|
|
NM_000081.4(LYST):c.4938C>T (p.Cys1646=)
|
|
|
|
NM_000081.4(LYST):c.4952G>C (p.Cys1651Ser)
|
|
|
|
NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)
|
|
|
|
NM_000081.4(LYST):c.4972T>C (p.Phe1658Leu)
|
|
|
|
NM_000081.4(LYST):c.4972T>G (p.Phe1658Val)
|
|
|
|
NM_000081.4(LYST):c.4978C>T (p.Gln1660Ter)
|
|
|
|
NM_000081.4(LYST):c.4982T>C (p.Leu1661Ser)
|
|
|
|
NM_000081.4(LYST):c.4984G>A (p.Ala1662Thr)
|
|
|
|
NM_000081.4(LYST):c.4986T>C (p.Ala1662=)
|
|
|
|
NM_000081.4(LYST):c.4992A>G (p.Lys1664=)
|
|
|
|
NM_000081.4(LYST):c.4996G>A (p.Asp1666Asn)
|
|
|
|
NM_000081.4(LYST):c.4999C>T (p.Leu1667=)
|
|
|
|
NM_000081.4(LYST):c.5013T>C (p.Leu1671=)
|
|
|
|
NM_000081.4(LYST):c.5016C>T (p.Leu1672=)
|
|
|
|
NM_000081.4(LYST):c.5019C>A (p.Phe1673Leu)
|
|
|
|
NM_000081.4(LYST):c.5020A>G (p.Asn1674Asp)
|
|
|
|
NM_000081.4(LYST):c.5022C>T (p.Asn1674=)
|
|
|
|
NM_000081.4(LYST):c.5023+12A>G
|
|
|
|
NM_000081.4(LYST):c.5023+14G>A
|
|
|
|
NM_000081.4(LYST):c.5023+15A>G
|
|
|
|
NM_000081.4(LYST):c.5023+1G>A
|
|
|
|
NM_000081.4(LYST):c.5023+3G>A
|
|
|
|
NM_000081.4(LYST):c.5024-12del
|
|
|
|
NM_000081.4(LYST):c.5024-16T>C
|
|
|
|
NM_000081.4(LYST):c.5024-6A>G
|
|
|
|
NM_000081.4(LYST):c.5024-8C>T
|
|
|
|
NM_000081.4(LYST):c.5024-9G>A
|
|
|
|
NM_000081.4(LYST):c.5025A>G (p.Gly1675=)
|
|
|
|
NM_000081.4(LYST):c.5026G>A (p.Ala1676Thr)
|
|
|
|
NM_000081.4(LYST):c.5029A>G (p.Lys1677Glu)
|
|
|
|
NM_000081.4(LYST):c.5031G>A (p.Lys1677=)
|
|
|
|
NM_000081.4(LYST):c.5052T>C (p.Phe1684=)
|
|
|
|
NM_000081.4(LYST):c.5058G>A (p.Leu1686=)
|
rs780562886
|
|
|
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter)
|
rs80338658
|
|
|
NM_000081.4(LYST):c.5071C>T (p.Pro1691Ser)
|
|
|
|
NM_000081.4(LYST):c.5075A>G (p.Asn1692Ser)
|
|
|
|
NM_000081.4(LYST):c.5082A>T (p.Thr1694=)
|
|
|
|
NM_000081.4(LYST):c.5094A>G (p.Pro1698=)
|
|
|
|
NM_000081.4(LYST):c.50A>G (p.Asn17Ser)
|
|
|
|
NM_000081.4(LYST):c.5100G>A (p.Lys1700=)
|
|
|
|
NM_000081.4(LYST):c.5112A>G (p.Pro1704=)
|
|
|
|
NM_000081.4(LYST):c.5112A>T (p.Pro1704=)
|
|
|
|
NM_000081.4(LYST):c.5113_5115del (p.Val1705del)
|
|
|
|
NM_000081.4(LYST):c.5115C>G (p.Val1705=)
|
|
|
|
NM_000081.4(LYST):c.5115C>T (p.Val1705=)
|
|
|
|
NM_000081.4(LYST):c.5117A>G (p.Asn1706Ser)
|
|
|
|
NM_000081.4(LYST):c.5124C>T (p.Tyr1708=)
|
|
|
|
NM_000081.4(LYST):c.5129A>G (p.Lys1710Arg)
|
|
|
|
NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)
|
|
|
|
NM_000081.4(LYST):c.5136T>C (p.Ile1712=)
|
|
|
|
NM_000081.4(LYST):c.5144A>C (p.Glu1715Ala)
|
|
|
|
NM_000081.4(LYST):c.5151G>A (p.Leu1717=)
|
|
|
|
NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)
|
|
|
|
NM_000081.4(LYST):c.5157T>C (p.Cys1719=)
|
|
|
|
NM_000081.4(LYST):c.517G>C (p.Asp173His)
|
|
|
|
NM_000081.4(LYST):c.5183C>T (p.Thr1728Ile)
|
|
|
|
NM_000081.4(LYST):c.5185A>G (p.Lys1729Glu)
|
|
|
|
NM_000081.4(LYST):c.5186A>T (p.Lys1729Met)
|
|
|
|
NM_000081.4(LYST):c.5190A>G (p.Lys1730=)
|
|
|
|
NM_000081.4(LYST):c.5191G>T (p.Asp1731Tyr)
|
|
|
|
NM_000081.4(LYST):c.5193T>C (p.Asp1731=)
|
|
|
|
NM_000081.4(LYST):c.5195T>C (p.Val1732Ala)
|
|
|
|
NM_000081.4(LYST):c.5199T>C (p.Asp1733=)
|
|
|
|
NM_000081.4(LYST):c.519T>C (p.Asp173=)
|
|
|
|
NM_000081.4(LYST):c.5200A>G (p.Ile1734Val)
|
|
|
|
NM_000081.4(LYST):c.5209T>C (p.Leu1737=)
|
|
|
|
NM_000081.4(LYST):c.5214+11A>G
|
|
|
|
NM_000081.4(LYST):c.5214+12T>C
|
|
|
|
NM_000081.4(LYST):c.5214+15T>G
|
|
|
|
NM_000081.4(LYST):c.5214+1G>C
|
|
|
|
NM_000081.4(LYST):c.5214+3A>G
|
|
|
|
NM_000081.4(LYST):c.5214+5G>C
|
|
|
|
NM_000081.4(LYST):c.5214+9T>C
|
|
|
|
NM_000081.4(LYST):c.5215-11T>C
|
|
|
|
NM_000081.4(LYST):c.5215-12T>C
|
|
|
|
NM_000081.4(LYST):c.5215-14T>C
|
|
|
|
NM_000081.4(LYST):c.5215-7A>G
|
|
|
|
NM_000081.4(LYST):c.5215-9G>C
|
|
|
|
NM_000081.4(LYST):c.5226A>G (p.Ser1742=)
|
|
|
|
NM_000081.4(LYST):c.5229T>C (p.Val1743=)
|
|
|
|
NM_000081.4(LYST):c.5235T>C (p.Tyr1745=)
|
|
|
|
NM_000081.4(LYST):c.5247T>C (p.Cys1749=)
|
|
|
|
NM_000081.4(LYST):c.5254C>G (p.Gln1752Glu)
|
|
|
|
NM_000081.4(LYST):c.5256G>A (p.Gln1752=)
|
|
|
|
NM_000081.4(LYST):c.5256G>C (p.Gln1752His)
|
|
|
|
NM_000081.4(LYST):c.5259T>C (p.Tyr1753=)
|
|
|
|
NM_000081.4(LYST):c.5263A>G (p.Ile1755Val)
|
|
|
|
NM_000081.4(LYST):c.5265C>T (p.Ile1755=)
|
|
|
|
NM_000081.4(LYST):c.5271A>G (p.Glu1757=)
|
|
|
|
NM_000081.4(LYST):c.5274A>G (p.Pro1758=)
|
|
|
|
NM_000081.4(LYST):c.5277G>A (p.Val1759=)
|
|
|
|
NM_000081.4(LYST):c.527G>A (p.Gly176Asp)
|
|
|
|
NM_000081.4(LYST):c.5280T>G (p.Ile1760Met)
|
|
|
|
NM_000081.4(LYST):c.5281A>C (p.Arg1761=)
|
|
|
|
NM_000081.4(LYST):c.5290G>A (p.Gly1764Ser)
|
|
|
|
NM_000081.4(LYST):c.5291G>A (p.Gly1764Asp)
|
rs35413645
|
|
|
NM_000081.4(LYST):c.5291G>T (p.Gly1764Val)
|
|
|
|
NM_000081.4(LYST):c.5293C>G (p.Gln1765Glu)
|
|
|
|
NM_000081.4(LYST):c.5298G>A (p.Met1766Ile)
|
|
|
|
NM_000081.4(LYST):c.52C>T (p.Arg18Trp)
|
|
|
|
NM_000081.4(LYST):c.5315A>G (p.Gln1772Arg)
|
|
|
|
NM_000081.4(LYST):c.5317del (p.Arg1773fs)
|
rs80338659
|
|
|
NM_000081.4(LYST):c.5322C>T (p.Pro1774=)
|
|
|
|
NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)
|
|
|
|
NM_000081.4(LYST):c.5325C>A (p.Phe1775Leu)
|
|
|
|
NM_000081.4(LYST):c.5333AAG[1] (p.Glu1779del)
|
|
|
|
NM_000081.4(LYST):c.5334A>G (p.Lys1778=)
|
|
|
|
NM_000081.4(LYST):c.5349C>G (p.Ile1783Met)
|
|
|
|
NM_000081.4(LYST):c.5349C>T (p.Ile1783=)
|
|
|
|
NM_000081.4(LYST):c.534A>G (p.Ala178=)
|
|
|
|
NM_000081.4(LYST):c.5351_5352insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCCAGAGCATCTT (p.Leu1784delinsPhePhePhePhePhePhePheXaaXaaXaaXaaSerTer)
|
|
|
|
NM_000081.4(LYST):c.5352A>G (p.Leu1784=)
|
|
|
|
NM_000081.4(LYST):c.5353T>C (p.Leu1785=)
|
|
|
|
NM_000081.4(LYST):c.5363A>G (p.His1788Arg)
|
|
|
|
NM_000081.4(LYST):c.5365C>A (p.His1789Asn)
|
|
|
|
NM_000081.4(LYST):c.5368C>T (p.Leu1790=)
|
|
|
|
NM_000081.4(LYST):c.5370A>G (p.Leu1790=)
|
|
|
|
NM_000081.4(LYST):c.5373_5374delinsAG (p.Asn1792Asp)
|
|
|
|
NM_000081.4(LYST):c.5375A>T (p.Asn1792Ile)
|
|
|
|
NM_000081.4(LYST):c.5382A>G (p.Gln1794=)
|
|
|
|
NM_000081.4(LYST):c.5384C>T (p.Pro1795Leu)
|
|
|
|
NM_000081.4(LYST):c.53G>A (p.Arg18Gln)
|
|
|
|
NM_000081.4(LYST):c.5414T>A (p.Leu1805Gln)
|
|
|
|
NM_000081.4(LYST):c.5419G>A (p.Glu1807Lys)
|
|
|
|
NM_000081.4(LYST):c.5432C>A (p.Thr1811Asn)
|
|
|
|
NM_000081.4(LYST):c.5435G>A (p.Gly1812Asp)
|
|
|
|
NM_000081.4(LYST):c.5437A>C (p.Ile1813Leu)
|
|
|
|
NM_000081.4(LYST):c.5437A>G (p.Ile1813Val)
|
|
|
|
NM_000081.4(LYST):c.543G>C (p.Lys181Asn)
|
|
|
|
NM_000081.4(LYST):c.5448T>C (p.Phe1816=)
|
|
|
|
NM_000081.4(LYST):c.544C>G (p.His182Asp)
|
|
|
|
NM_000081.4(LYST):c.5451C>T (p.Leu1817=)
|
|
|
|
NM_000081.4(LYST):c.5455G>T (p.Ala1819Ser)
|
|
|
|
NM_000081.4(LYST):c.5456C>T (p.Ala1819Val)
|
|
|
|
NM_000081.4(LYST):c.5460+11C>T
|
|
|
|
NM_000081.4(LYST):c.5460+7A>G
|
|
|
|
NM_000081.4(LYST):c.5461-12T>C
|
|
|
|
NM_000081.4(LYST):c.5461-13T>A
|
|
|
|
NM_000081.4(LYST):c.5461-13_5461-12dup
|
rs557545474
|
|
|
NM_000081.4(LYST):c.5461-14A>G
|
|
|
|
NM_000081.4(LYST):c.5461-14A>T
|
|
|
|
NM_000081.4(LYST):c.5461-15C>A
|
|
|
|
NM_000081.4(LYST):c.5461-15C>T
|
|
|
|
NM_000081.4(LYST):c.5461-16C>A
|
|
|
|
NM_000081.4(LYST):c.5461-3del
|
rs557545474
|
|
|
NM_000081.4(LYST):c.5461-3dup
|
rs557545474
|
|
|
NM_000081.4(LYST):c.5461-5T>C
|
|
|
|
NM_000081.4(LYST):c.5461-9T>A
|
|
|
|
NM_000081.4(LYST):c.5463T>G (p.Val1821=)
|
|
|
|
NM_000081.4(LYST):c.5472C>G (p.Leu1824=)
|
|
|
|
NM_000081.4(LYST):c.5472C>T (p.Leu1824=)
|
|
|
|
NM_000081.4(LYST):c.5475T>C (p.Ser1825=)
|
|
|
|
NM_000081.4(LYST):c.5479T>C (p.Cys1827Arg)
|
|
|
|
NM_000081.4(LYST):c.5488A>T (p.Thr1830Ser)
|
|
|
|
NM_000081.4(LYST):c.5491C>G (p.Gln1831Glu)
|
|
|
|
NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)
|
|
|
|
NM_000081.4(LYST):c.5496A>G (p.Ala1832=)
|
|
|
|
NM_000081.4(LYST):c.54G>A (p.Arg18=)
|
|
|
|
NM_000081.4(LYST):c.5505G>A (p.Leu1835=)
|
|
|
|
NM_000081.4(LYST):c.5506C>A (p.Arg1836=)
|
|
|
|
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
|
|
|
|
NM_000081.4(LYST):c.5507G>A (p.Arg1836Gln)
|
|
|
|
NM_000081.4(LYST):c.5511T>C (p.Val1837=)
|
|
|
|
NM_000081.4(LYST):c.5513T>C (p.Ile1838Thr)
|
|
|
|
NM_000081.4(LYST):c.5519C>G (p.Ser1840Ter)
|
|
|
|
NM_000081.4(LYST):c.5520A>G (p.Ser1840=)
|
|
|
|
NM_000081.4(LYST):c.5533A>G (p.Asn1845Asp)
|
|
|
|
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
|
|
|
|
NM_000081.4(LYST):c.5544A>G (p.Arg1848=)
|
|
|
|
NM_000081.4(LYST):c.5549A>G (p.His1850Arg)
|
|
|
|
NM_000081.4(LYST):c.555C>T (p.Pro185=)
|
|
|
|
NM_000081.4(LYST):c.5574T>C (p.Leu1858=)
|
|
|
|
NM_000081.4(LYST):c.5577T>A (p.Ser1859=)
|
|
|
|
NM_000081.4(LYST):c.5578A>C (p.Met1860Leu)
|
|
|
|
NM_000081.4(LYST):c.5583T>C (p.Ile1861=)
|
|
|
|
NM_000081.4(LYST):c.5588A>G (p.Gln1863Arg)
|
|
|
|
NM_000081.4(LYST):c.5590G>T (p.Val1864Leu)
|
rs139694536
|
|
|
NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)
|
|
|
|
NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)
|
|
|
|
NM_000081.4(LYST):c.5611A>C (p.Ile1871Leu)
|
|
|
|
NM_000081.4(LYST):c.5614G>A (p.Val1872Ile)
|
|
|
|
NM_000081.4(LYST):c.5619G>A (p.Gly1873=)
|
|
|
|
NM_000081.4(LYST):c.561G>A (p.Leu187=)
|
|
|
|
NM_000081.4(LYST):c.5625C>T (p.Tyr1875=)
|
|
|
|
NM_000081.4(LYST):c.5634+11A>G
|
|
|
|
NM_000081.4(LYST):c.5634+16A>G
|
|
|
|
NM_000081.4(LYST):c.5634+17T>G
|
|
|
|
NM_000081.4(LYST):c.5634+18T>G
|
|
|
|
NM_000081.4(LYST):c.5634+20A>G
|
|
|
|
NM_000081.4(LYST):c.5634+9T>C
|
|
|
|
NM_000081.4(LYST):c.5635-13T>C
|
|
|
|
NM_000081.4(LYST):c.5635-14C>T
|
|
|
|
NM_000081.4(LYST):c.5635-17A>T
|
|
|
|
NM_000081.4(LYST):c.5635-18A>G
|
|
|
|
NM_000081.4(LYST):c.5635-6C>G
|
|
|
|
NM_000081.4(LYST):c.5636C>A (p.Thr1879Asn)
|
|
|
|
NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile)
|
|
|
|
NM_000081.4(LYST):c.5648G>T (p.Gly1883Val)
|
|
|
|
NM_000081.4(LYST):c.5661A>G (p.Glu1887=)
|
|
|
|
NM_000081.4(LYST):c.5664T>C (p.Asp1888=)
|
|
|
|
NM_000081.4(LYST):c.5668A>G (p.Ile1890Val)
|
|
|
|
NM_000081.4(LYST):c.5674A>G (p.Met1892Val)
|
|
|
|
NM_000081.4(LYST):c.5676G>A (p.Met1892Ile)
|
|
|
|
NM_000081.4(LYST):c.5685T>C (p.Asn1895=)
|
|
|
|
NM_000081.4(LYST):c.5687G>A (p.Gly1896Glu)
|
|
|
|
NM_000081.4(LYST):c.5689G>A (p.Glu1897Lys)
|
|
|
|
NM_000081.4(LYST):c.5696A>C (p.Lys1899Thr)
|
|
|
|
NM_000081.4(LYST):c.5701G>A (p.Asp1901Asn)
|
|
|
|
NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)
|
|
|
|
NM_000081.4(LYST):c.5706A>C (p.Val1902=)
|
|
|
|
NM_000081.4(LYST):c.5707G>A (p.Asp1903Asn)
|
|
|
|
NM_000081.4(LYST):c.5709C>T (p.Asp1903=)
|
|
|
|
NM_000081.4(LYST):c.5712T>C (p.Ser1904=)
|
|
|
|
NM_000081.4(LYST):c.5715T>C (p.Asn1905=)
|
|
|
|
NM_000081.4(LYST):c.5718T>A (p.Ala1906=)
|
|
|
|
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
|
|
|
|
NM_000081.4(LYST):c.5736G>A (p.Lys1912=)
|
|
|
|
NM_000081.4(LYST):c.5748A>G (p.Glu1916=)
|
|
|
|
NM_000081.4(LYST):c.5749C>T (p.Leu1917=)
|
|
|
|
NM_000081.4(LYST):c.5751A>G (p.Leu1917=)
|
|
|
|
NM_000081.4(LYST):c.5752T>C (p.Leu1918=)
|
|
|
|
NM_000081.4(LYST):c.5754G>A (p.Leu1918=)
|
|
|
|
NM_000081.4(LYST):c.5755C>T (p.Leu1919Phe)
|
|
|
|
NM_000081.4(LYST):c.575del (p.Phe191_Leu192insTer)
|
|
|
|
NM_000081.4(LYST):c.575dup (p.Leu192fs)
|
|
|
|
NM_000081.4(LYST):c.5766G>A (p.Lys1922=)
|
|
|
|
NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)
|
|
|
|
NM_000081.4(LYST):c.5774G>A (p.Ser1925Asn)
|
|
|
|
NM_000081.4(LYST):c.5775T>C (p.Ser1925=)
|
|
|
|
NM_000081.4(LYST):c.5776A>G (p.Lys1926Glu)
|
|
|
|
NM_000081.4(LYST):c.5784+11T>C
|
|
|
|
NM_000081.4(LYST):c.5784+12G>A
|
|
|
|
NM_000081.4(LYST):c.5784+15C>T
|
|
|
|
NM_000081.4(LYST):c.5784+16T>C
|
|
|
|
NM_000081.4(LYST):c.5784+18T>C
|
|
|
|
NM_000081.4(LYST):c.5785-16G>A
|
|
|
|
NM_000081.4(LYST):c.5785-19T>C
|
|
|
|
NM_000081.4(LYST):c.5785-4T>C
|
|
|
|
NM_000081.4(LYST):c.5785-6C>T
|
|
|
|
NM_000081.4(LYST):c.5785C>T (p.Gln1929Ter)
|
|
|
|
NM_000081.4(LYST):c.5789G>A (p.Gly1930Asp)
|
|
|
|
NM_000081.4(LYST):c.5793T>C (p.Val1931=)
|
|
|
|
NM_000081.4(LYST):c.579A>G (p.Thr193=)
|
|
|
|
NM_000081.4(LYST):c.579A>T (p.Thr193=)
|
|
|
|
NM_000081.4(LYST):c.5800A>G (p.Thr1934Ala)
|
|
|
|
NM_000081.4(LYST):c.5802T>G (p.Thr1934=)
|
|
|
|
NM_000081.4(LYST):c.5810C>A (p.Ala1937Glu)
|
|
|
|
NM_000081.4(LYST):c.5817A>G (p.Leu1939=)
|
|
|
|
NM_000081.4(LYST):c.581C>T (p.Ser194Leu)
|
|
|
|
NM_000081.4(LYST):c.5823C>T (p.Val1941=)
|
|
|
|
NM_000081.4(LYST):c.5826C>T (p.Leu1942=)
|
|
|
|
NM_000081.4(LYST):c.5829C>T (p.Ile1943=)
|
|
|
|
NM_000081.4(LYST):c.582G>A (p.Ser194=)
|
|
|
|
NM_000081.4(LYST):c.582G>T (p.Ser194=)
|
|
|
|
NM_000081.4(LYST):c.5835A>G (p.Ala1945=)
|
|
|
|
NM_000081.4(LYST):c.5841C>T (p.His1947=)
|
|
|
|
NM_000081.4(LYST):c.5842C>T (p.His1948Tyr)
|
|
|
|
NM_000081.4(LYST):c.5864A>G (p.Lys1955Arg)
|
|
|
|
NM_000081.4(LYST):c.586C>G (p.Pro196Ala)
|
|
|
|
NM_000081.4(LYST):c.586C>T (p.Pro196Ser)
|
|
|
|
NM_000081.4(LYST):c.5881C>T (p.Gln1961Ter)
|
|
|
|
NM_000081.4(LYST):c.5883A>G (p.Gln1961=)
|
|
|
|
NM_000081.4(LYST):c.5890C>T (p.His1964Tyr)
|
|
|
|
NM_000081.4(LYST):c.5892T>C (p.His1964=)
|
rs1412343430
|
|
|
NM_000081.4(LYST):c.5905A>C (p.Thr1969Pro)
|
|
|
|
NM_000081.4(LYST):c.5912A>G (p.Gln1971Arg)
|
|
|
|
NM_000081.4(LYST):c.5920C>G (p.Gln1974Glu)
|
|
|
|
NM_000081.4(LYST):c.5922+10A>C
|
rs375422713
|
|
|
NM_000081.4(LYST):c.5922+10A>G
|
rs375422713
|
|
|
NM_000081.4(LYST):c.5922+10A>T
|
|
|
|
NM_000081.4(LYST):c.5922+11T>C
|
|
|
|
NM_000081.4(LYST):c.5922+12G>A
|
|
|
|
NM_000081.4(LYST):c.5922+13T>C
|
|
|
|
NM_000081.4(LYST):c.5922+15del
|
|
|
|
NM_000081.4(LYST):c.5922+19T>C
|
|
|
|
NM_000081.4(LYST):c.5922+9C>T
|
|
|
|
NM_000081.4(LYST):c.5923-11T>A
|
|
|
|
NM_000081.4(LYST):c.5923-11del
|
|
|
|
NM_000081.4(LYST):c.5923-11dup
|
|
|
|
NM_000081.4(LYST):c.5923-12T>C
|
|
|
|
NM_000081.4(LYST):c.5923-17T>A
|
|
|
|
NM_000081.4(LYST):c.5923-18T>G
|
|
|
|
NM_000081.4(LYST):c.5923-1G>A
|
|
|
|
NM_000081.4(LYST):c.5923-20A>C
|
|
|
|
NM_000081.4(LYST):c.5923-2A>G
|
|
|
|
NM_000081.4(LYST):c.5923-4dup
|
|
|
|
NM_000081.4(LYST):c.5925A>G (p.Glu1975=)
|
|
|
|
NM_000081.4(LYST):c.5927A>G (p.Tyr1976Cys)
|
|
|
|
NM_000081.4(LYST):c.5935G>A (p.Gly1979Arg)
|
|
|
|
NM_000081.4(LYST):c.5937G>A (p.Gly1979=)
|
|
|
|
NM_000081.4(LYST):c.5940A>G (p.Gln1980=)
|
|
|
|
NM_000081.4(LYST):c.5954C>G (p.Pro1985Arg)
|
|
|
|
NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)
|
|
|
|
NM_000081.4(LYST):c.5957G>A (p.Arg1986Gln)
|
|
|
|
NM_000081.4(LYST):c.5971T>C (p.Ser1991Pro)
|
|
|
|
NM_000081.4(LYST):c.5973A>T (p.Ser1991=)
|
|
|
|
NM_000081.4(LYST):c.5979G>T (p.Val1993=)
|
|
|
|
NM_000081.4(LYST):c.5987T>C (p.Ile1996Thr)
|
|
|
|
NM_000081.4(LYST):c.5989G>A (p.Ala1997Thr)
|
|
|
|
NM_000081.4(LYST):c.5991A>G (p.Ala1997=)
|
|
|
|
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp)
|
rs28942077
|
|
|
NM_000081.4(LYST):c.6006T>A (p.Ser2002=)
|
|
|
|
NM_000081.4(LYST):c.600C>T (p.His200=)
|
|
|
|
NM_000081.4(LYST):c.6019G>A (p.Glu2007Lys)
|
|
|
|
NM_000081.4(LYST):c.6031A>G (p.Ile2011Val)
|
|
|
|
NM_000081.4(LYST):c.6045C>T (p.Phe2015=)
|
|
|
|
NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)
|
|
|
|
NM_000081.4(LYST):c.6058C>T (p.His2020Tyr)
|
|
|
|
NM_000081.4(LYST):c.6063T>G (p.Pro2021=)
|
|
|
|
NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)
|
|
|
|
NM_000081.4(LYST):c.6066T>C (p.Pro2022=)
|
|
|
|
NM_000081.4(LYST):c.6072T>C (p.Asn2024=)
|
|
|
|
NM_000081.4(LYST):c.6077dup (p.Tyr2026Ter)
|
|
|
|
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter)
|
rs80338660
|
|
|
NM_000081.4(LYST):c.6078C>G (p.Tyr2026Ter)
|
|
|
|
NM_000081.4(LYST):c.6079G>A (p.Val2027Ile)
|
|
|
|
NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)
|
|
|
|
NM_000081.4(LYST):c.607G>C (p.Ala203Pro)
|
|
|
|
NM_000081.4(LYST):c.6087C>T (p.His2029=)
|
|
|
|
NM_000081.4(LYST):c.6089A>G (p.Asn2030Ser)
|
|
|
|
NM_000081.4(LYST):c.6096G>A (p.Thr2032=)
|
|
|
|
NM_000081.4(LYST):c.6097A>C (p.Asn2033His)
|
|
|
|
NM_000081.4(LYST):c.6108T>C (p.Phe2036=)
|
|
|
|
NM_000081.4(LYST):c.6113T>C (p.Leu2038Ser)
|
|
|
|
NM_000081.4(LYST):c.6118A>G (p.Ile2040Val)
|
|
|
|
NM_000081.4(LYST):c.6121+13A>G
|
|
|
|
NM_000081.4(LYST):c.6121+5G>A
|
|
|
|
NM_000081.4(LYST):c.6121+5del
|
|
|
|
NM_000081.4(LYST):c.6122-13A>T
|
|
|
|
NM_000081.4(LYST):c.6122-13del
|
rs201404906
|
|
|
NM_000081.4(LYST):c.6122-13dup
|
|
|
|
NM_000081.4(LYST):c.6122-14A>C
|
|
|
|
NM_000081.4(LYST):c.6122-19A>C
|
|
|
|
NM_000081.4(LYST):c.6122-4C>A
|
|
|
|
NM_000081.4(LYST):c.6122-8G>A
|
|
|
|
NM_000081.4(LYST):c.6128A>G (p.Lys2043Arg)
|
|
|
|
NM_000081.4(LYST):c.6135T>C (p.Phe2045=)
|
|
|
|
NM_000081.4(LYST):c.6141G>A (p.Glu2047=)
|
|
|
|
NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu)
|
|
|
|
NM_000081.4(LYST):c.6144A>G (p.Lys2048=)
|
|
|
|
NM_000081.4(LYST):c.6148C>T (p.Arg2050Trp)
|
|
|
|
NM_000081.4(LYST):c.6153A>C (p.Ser2051=)
|
|
|
|
NM_000081.4(LYST):c.6154A>C (p.Ile2052Leu)
|
|
|
|
NM_000081.4(LYST):c.6154A>G (p.Ile2052Val)
|
|
|
|
NM_000081.4(LYST):c.6158T>C (p.Met2053Thr)
|
|
|
|
NM_000081.4(LYST):c.615T>G (p.Leu205=)
|
|
|
|
NM_000081.4(LYST):c.6162C>T (p.Tyr2054=)
|
|
|
|
NM_000081.4(LYST):c.6163C>A (p.Leu2055Met)
|
|
|
|
NM_000081.4(LYST):c.6168G>A (p.Arg2056=)
|
|
|
|
NM_000081.4(LYST):c.6170A>G (p.His2057Arg)
|
|
|
|
NM_000081.4(LYST):c.6176G>A (p.Ser2059Asn)
|
|
|
|
NM_000081.4(LYST):c.6184G>A (p.Gly2062Arg)
|
|
|
|
NM_000081.4(LYST):c.6185G>C (p.Gly2062Ala)
|
|
|
|
NM_000081.4(LYST):c.6187A>C (p.Arg2063=)
|
|
|
|
NM_000081.4(LYST):c.6187del (p.Arg2063fs)
|
|
|
|
NM_000081.4(LYST):c.6188G>A (p.Arg2063Lys)
|
|
|
|
NM_000081.4(LYST):c.6189G>A (p.Arg2063=)
|
|
|
|
NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)
|
|
|
|
NM_000081.4(LYST):c.6192C>T (p.Ser2064=)
|
|
|
|
NM_000081.4(LYST):c.619C>T (p.Arg207Cys)
|
|
|
|
NM_000081.4(LYST):c.6201C>T (p.Ser2067=)
|
|
|
|
NM_000081.4(LYST):c.6203C>T (p.Pro2068Leu)
|
|
|
|
NM_000081.4(LYST):c.6204T>C (p.Pro2068=)
|
|
|
|
NM_000081.4(LYST):c.620G>A (p.Arg207His)
|
|
|
|
NM_000081.4(LYST):c.6213G>A (p.Met2071Ile)
|
|
|
|
NM_000081.4(LYST):c.6214G>C (p.Val2072Leu)
|
|
|
|
NM_000081.4(LYST):c.6217A>G (p.Ile2073Val)
|
|
|
|
NM_000081.4(LYST):c.6224C>T (p.Pro2075Leu)
|
|
|
|
NM_000081.4(LYST):c.6225A>T (p.Pro2075=)
|
|
|
|
NM_000081.4(LYST):c.6229G>A (p.Gly2077Ser)
|
|
|
|
NM_000081.4(LYST):c.6238G>A (p.Ala2080Thr)
|
|
|
|
NM_000081.4(LYST):c.6238G>C (p.Ala2080Pro)
|
|
|
|
NM_000081.4(LYST):c.6246A>G (p.Pro2082=)
|
|
|
|
NM_000081.4(LYST):c.624A>G (p.Leu208=)
|
|
|
|
NM_000081.4(LYST):c.6253+11C>T
|
|
|
|
NM_000081.4(LYST):c.6253+13A>G
|
|
|
|
NM_000081.4(LYST):c.6253+14T>A
|
|
|
|
NM_000081.4(LYST):c.6253+18G>A
|
|
|
|
NM_000081.4(LYST):c.6253+19G>C
|
|
|
|
NM_000081.4(LYST):c.6253+19G>T
|
|
|
|
NM_000081.4(LYST):c.6254-11A>G
|
|
|
|
NM_000081.4(LYST):c.6254-12T>C
|
|
|
|
NM_000081.4(LYST):c.6254-13C>G
|
|
|
|
NM_000081.4(LYST):c.6254-1G>C
|
|
|
|
NM_000081.4(LYST):c.6254-4C>A
|
|
|
|
NM_000081.4(LYST):c.6255A>G (p.Gly2085=)
|
|
|
|
NM_000081.4(LYST):c.6260A>G (p.Asn2087Ser)
|
|
|
|
NM_000081.4(LYST):c.6266C>A (p.Ser2089Tyr)
|
|
|
|
NM_000081.4(LYST):c.6266C>G (p.Ser2089Cys)
|
|
|
|
NM_000081.4(LYST):c.6279A>G (p.Pro2093=)
|
|
|
|
NM_000081.4(LYST):c.6283C>T (p.Gln2095Ter)
|
|
|
|
NM_000081.4(LYST):c.6288G>A (p.Met2096Ile)
|
|
|
|
NM_000081.4(LYST):c.6299T>C (p.Met2100Thr)
|
|
|
|
NM_000081.4(LYST):c.6305G>A (p.Arg2102His)
|
|
|
|
NM_000081.4(LYST):c.6316C>T (p.Leu2106=)
|
|
|
|
NM_000081.4(LYST):c.631A>G (p.Lys211Glu)
|
|
|
|
NM_000081.4(LYST):c.6324A>T (p.Ala2108=)
|
|
|
|
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
|
|
|
|
NM_000081.4(LYST):c.6331A>T (p.Thr2111Ser)
|
|
|
|
NM_000081.4(LYST):c.6333T>G (p.Thr2111=)
|
|
|
|
NM_000081.4(LYST):c.6345A>G (p.Leu2115=)
|
|
|
|
NM_000081.4(LYST):c.6347C>T (p.Thr2116Met)
|
|
|
|
NM_000081.4(LYST):c.6348G>A (p.Thr2116=)
|
|
|
|
NM_000081.4(LYST):c.6351A>G (p.Gln2117=)
|
|
|
|
NM_000081.4(LYST):c.6357A>G (p.Gln2119=)
|
|
|
|
NM_000081.4(LYST):c.6366T>A (p.Thr2122=)
|
|
|
|
NM_000081.4(LYST):c.6380G>A (p.Cys2127Tyr)
|
|
|
|
NM_000081.4(LYST):c.6390C>T (p.Asp2130=)
|
|
|
|
NM_000081.4(LYST):c.6396A>G (p.Leu2132=)
|
|
|
|
NM_000081.4(LYST):c.6397C>T (p.Gln2133Ter)
|
|
|
|
NM_000081.4(LYST):c.6413C>T (p.Thr2138Ile)
|
|
|
|
NM_000081.4(LYST):c.6417T>C (p.Tyr2139=)
|
|
|
|
NM_000081.4(LYST):c.6422C>A (p.Ala2141Asp)
|
|
|
|
NM_000081.4(LYST):c.6426C>T (p.Thr2142=)
|
|
|
|
NM_000081.4(LYST):c.643C>T (p.Pro215Ser)
|
|
|
|
NM_000081.4(LYST):c.6440A>G (p.Gln2147Arg)
|
|
|
|
NM_000081.4(LYST):c.6441A>G (p.Gln2147=)
|
|
|
|
NM_000081.4(LYST):c.6445T>A (p.Ser2149Thr)
|
|
|
|
NM_000081.4(LYST):c.6445T>G (p.Ser2149Ala)
|
|
|
|
NM_000081.4(LYST):c.6446C>A (p.Ser2149Tyr)
|
|
|
|
NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)
|
|
|
|
NM_000081.4(LYST):c.6456T>C (p.Ser2152=)
|
|
|
|
NM_000081.4(LYST):c.6458C>A (p.Ser2153Tyr)
|
|
|
|
NM_000081.4(LYST):c.6459C>T (p.Ser2153=)
|
|
|
|
NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)
|
|
|
|
NM_000081.4(LYST):c.6462C>T (p.Asp2154=)
|
|
|
|
NM_000081.4(LYST):c.6465A>G (p.Thr2155=)
|
|
|
|
NM_000081.4(LYST):c.646C>T (p.Pro216Ser)
|
|
|
|
NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys)
|
|
|
|
NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)
|
|
|
|
NM_000081.4(LYST):c.6479A>G (p.Lys2160Arg)
|
|
|
|
NM_000081.4(LYST):c.6480A>G (p.Lys2160=)
|
|
|
|
NM_000081.4(LYST):c.6486C>T (p.Asp2162=)
|
|
|
|
NM_000081.4(LYST):c.6489A>G (p.Ala2163=)
|
|
|
|
NM_000081.4(LYST):c.6493A>G (p.Ile2165Val)
|
|
|
|
NM_000081.4(LYST):c.6494T>C (p.Ile2165Thr)
|
|
|
|
NM_000081.4(LYST):c.6496A>G (p.Ser2166Gly)
|
|
|
|
NM_000081.4(LYST):c.6498T>C (p.Ser2166=)
|
|
|
|
NM_000081.4(LYST):c.6505G>A (p.Glu2169Lys)
|
|
|
|
NM_000081.4(LYST):c.650A>T (p.Asp217Val)
|
|
|
|
NM_000081.4(LYST):c.6519T>C (p.Thr2173=)
|
|
|
|
NM_000081.4(LYST):c.6519T>G (p.Thr2173=)
|
|
|
|
NM_000081.4(LYST):c.6522T>C (p.Val2174=)
|
|
|
|
NM_000081.4(LYST):c.6528A>G (p.Glu2176=)
|
|
|
|
NM_000081.4(LYST):c.6545C>T (p.Ser2182Leu)
|
|
|
|
NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)
|
|
|
|
NM_000081.4(LYST):c.6548C>T (p.Ala2183Val)
|
|
|
|
NM_000081.4(LYST):c.6549C>T (p.Ala2183=)
|
|
|
|
NM_000081.4(LYST):c.6552G>A (p.Gln2184=)
|
|
|
|
NM_000081.4(LYST):c.6556T>C (p.Ser2186Pro)
|
|
|
|
NM_000081.4(LYST):c.655A>G (p.Met219Val)
|
|
|
|
NM_000081.4(LYST):c.6562A>G (p.Ser2188Gly)
|
|
|
|
NM_000081.4(LYST):c.6565G>A (p.Asp2189Asn)
|
|
|
|
NM_000081.4(LYST):c.6567T>G (p.Asp2189Glu)
|
|
|
|
NM_000081.4(LYST):c.6569T>A (p.Val2190Asp)
|
|
|
|
NM_000081.4(LYST):c.6569T>G (p.Val2190Gly)
|
|
|
|
NM_000081.4(LYST):c.656T>C (p.Met219Thr)
|
|
|
|
NM_000081.4(LYST):c.6570C>T (p.Val2190=)
|
rs1572170906
|
|
|
NM_000081.4(LYST):c.6572C>T (p.Pro2191Leu)
|
|
|
|
NM_000081.4(LYST):c.6577G>C (p.Gly2193Arg)
|
|
|
|
NM_000081.4(LYST):c.6580G>T (p.Val2194Leu)
|
|
|
|
NM_000081.4(LYST):c.6585G>A (p.Leu2195=)
|
|
|
|
NM_000081.4(LYST):c.6587G>C (p.Gly2196Ala)
|
|
|
|
NM_000081.4(LYST):c.6593C>A (p.Pro2198Gln)
|
|
|
|
NM_000081.4(LYST):c.6595G>C (p.Val2199Leu)
|
|
|
|
NM_000081.4(LYST):c.6595G>T (p.Val2199Leu)
|
|
|
|
NM_000081.4(LYST):c.6597G>C (p.Val2199=)
|
|
|
|
NM_000081.4(LYST):c.6600C>G (p.Val2200=)
|
|
|
|
NM_000081.4(LYST):c.6614A>C (p.Lys2205Thr)
|
|
|
|
NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)
|
|
|
|
NM_000081.4(LYST):c.6619T>C (p.Leu2207=)
|
|
|
|
NM_000081.4(LYST):c.6624A>T (p.Gly2208=)
|
|
|
|
NM_000081.4(LYST):c.6636G>C (p.Arg2212Ser)
|
|
|
|
NM_000081.4(LYST):c.6642A>G (p.Glu2214=)
|
|
|
|
NM_000081.4(LYST):c.6645T>C (p.Asp2215=)
|
|
|
|
NM_000081.4(LYST):c.6646G>C (p.Asp2216His)
|
|
|
|
NM_000081.4(LYST):c.6648C>T (p.Asp2216=)
|
|
|
|
NM_000081.4(LYST):c.6653C>G (p.Pro2218Arg)
|
|
|
|
NM_000081.4(LYST):c.6656G>A (p.Gly2219Glu)
|
|
|
|
NM_000081.4(LYST):c.6663G>A (p.Glu2221=)
|
|
|
|
NM_000081.4(LYST):c.6666C>G (p.Ser2222=)
|
|
|
|
NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe)
|
|
|
|
NM_000081.4(LYST):c.6669C>T (p.Cys2223=)
|
|
|
|
NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)
|
|
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
|
NM_000081.4(LYST):c.6674G>A (p.Arg2225His)
|
|
|
|
NM_000081.4(LYST):c.6674G>T (p.Arg2225Leu)
|
|
|
|
NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter)
|
|
|
|
NM_000081.4(LYST):c.6677G>A (p.Arg2226Gln)
|
|
|
|
NM_000081.4(LYST):c.6695G>A (p.Gly2232Glu)
|
|
|
|
NM_000081.4(LYST):c.6697T>A (p.Leu2233Met)
|
|
|
|
NM_000081.4(LYST):c.669T>C (p.Asn223=)
|
|
|
|
NM_000081.4(LYST):c.66A>C (p.Ala22=)
|
rs757708194
|
|
|
NM_000081.4(LYST):c.66A>G (p.Ala22=)
|
|
|
|
NM_000081.4(LYST):c.6702C>T (p.Ala2234=)
|
|
|
|
NM_000081.4(LYST):c.6703T>G (p.Ser2235Ala)
|
|
|
|
NM_000081.4(LYST):c.6708C>G (p.Phe2236Leu)
|
|
|
|
NM_000081.4(LYST):c.6710A>G (p.Gln2237Arg)
|
|
|
|
NM_000081.4(LYST):c.6712C>T (p.Arg2238Ter)
|
|
|
|
NM_000081.4(LYST):c.6720C>T (p.His2240=)
|
|
|
|
NM_000081.4(LYST):c.6720_6721del (p.His2240fs)
|
|
|
|
NM_000081.4(LYST):c.6724A>C (p.Thr2242Pro)
|
|
|
|
NM_000081.4(LYST):c.6727A>G (p.Ile2243Val)
|
|
|
|
NM_000081.4(LYST):c.6732A>C (p.Ala2244=)
|
|
|
|
NM_000081.4(LYST):c.6735C>G (p.Ser2245Arg)
|
|
|
|
NM_000081.4(LYST):c.6737T>C (p.Leu2246Pro)
|
|
|
|
NM_000081.4(LYST):c.6744A>G (p.Leu2248=)
|
|
|
|
NM_000081.4(LYST):c.674G>A (p.Arg225Lys)
|
|
|
|
NM_000081.4(LYST):c.6756A>G (p.Ser2252=)
|
|
|
|
NM_000081.4(LYST):c.6762C>T (p.Asn2254=)
|
|
|
|
NM_000081.4(LYST):c.6764G>C (p.Gly2255Ala)
|
|
|
|
NM_000081.4(LYST):c.6769G>T (p.Ala2257Ser)
|
|
|
|
NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)
|
|
|
|
NM_000081.4(LYST):c.6775G>A (p.Val2259Ile)
|
|
|
|
NM_000081.4(LYST):c.6775G>T (p.Val2259Phe)
|
|
|
|
NM_000081.4(LYST):c.677A>G (p.Glu226Gly)
|
|
|
|
NM_000081.4(LYST):c.6781C>T (p.Arg2261Cys)
|
|
|
|
NM_000081.4(LYST):c.6782G>T (p.Arg2261Leu)
|
|
|
|
NM_000081.4(LYST):c.6786G>T (p.Trp2262Cys)
|
|
|
|
NM_000081.4(LYST):c.6790A>C (p.Ser2264Arg)
|
|
|
|
NM_000081.4(LYST):c.6793C>G (p.Leu2265Val)
|
|
|
|
NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)
|
|
|
|
NM_000081.4(LYST):c.6796G>C (p.Val2266Leu)
|
|
|
|
NM_000081.4(LYST):c.6801T>C (p.Asp2267=)
|
|
|
|
NM_000081.4(LYST):c.6812A>T (p.Asp2271Val)
|
|
|
|
NM_000081.4(LYST):c.681T>C (p.Ile227=)
|
|
|
|
NM_000081.4(LYST):c.6822A>G (p.Glu2274=)
|
|
|
|
NM_000081.4(LYST):c.6831C>G (p.Ala2277=)
|
|
|
|
NM_000081.4(LYST):c.6831C>T (p.Ala2277=)
|
|
|
|
NM_000081.4(LYST):c.6833A>G (p.Tyr2278Cys)
|
|
|
|
NM_000081.4(LYST):c.6834T>C (p.Tyr2278=)
|
|
|
|
NM_000081.4(LYST):c.6836C>T (p.Ser2279Phe)
|
|
|
|
NM_000081.4(LYST):c.6841G>C (p.Gly2281Arg)
|
|
|
|
NM_000081.4(LYST):c.6845A>G (p.Tyr2282Cys)
|
|
|
|
NM_000081.4(LYST):c.6845A>T (p.Tyr2282Phe)
|
|
|
|
NM_000081.4(LYST):c.6847G>A (p.Glu2283Lys)
|
|
|
|
NM_000081.4(LYST):c.6848A>G (p.Glu2283Gly)
|
|
|
|
NM_000081.4(LYST):c.6849G>A (p.Glu2283=)
|
|
|
|
NM_000081.4(LYST):c.6855T>C (p.Asn2285=)
|
|
|
|
NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)
|
|
|
|
NM_000081.4(LYST):c.6857A>G (p.Tyr2286Cys)
|
|
|
|
NM_000081.4(LYST):c.685C>A (p.Pro229Thr)
|
|
|
|
NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)
|
|
|
|
NM_000081.4(LYST):c.6863G>A (p.Arg2288Gln)
|
|
|
|
NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)
|
|
|
|
NM_000081.4(LYST):c.6866C>T (p.Thr2289Ile)
|
|
|
|
NM_000081.4(LYST):c.686C>T (p.Pro229Leu)
|
|
|
|
NM_000081.4(LYST):c.6871A>C (p.Ser2291Arg)
|
|
|
|
NM_000081.4(LYST):c.6878A>G (p.His2293Arg)
|
|
|
|
NM_000081.4(LYST):c.6881+18T>G
|
|
|
|
NM_000081.4(LYST):c.6881+19A>G
|
|
|
|
NM_000081.4(LYST):c.6881+20C>T
|
|
|
|
NM_000081.4(LYST):c.6881+8T>A
|
|
|
|
NM_000081.4(LYST):c.6881+9G>A
|
|
|
|
NM_000081.4(LYST):c.6882-15T>C
|
|
|
|
NM_000081.4(LYST):c.6882-18T>C
|
|
|
|
NM_000081.4(LYST):c.6882-19T>C
|
|
|
|
NM_000081.4(LYST):c.6882-1G>T
|
|
|
|
NM_000081.4(LYST):c.6882-20T>A
|
|
|
|
NM_000081.4(LYST):c.6882-4T>G
|
|
|
|
NM_000081.4(LYST):c.6882-6T>C
|
|
|
|
NM_000081.4(LYST):c.6898T>G (p.Leu2300Val)
|
|
|
|
NM_000081.4(LYST):c.6904C>T (p.Pro2302Ser)
|
|
|
|
NM_000081.4(LYST):c.6905C>T (p.Pro2302Leu)
|
|
|
|
NM_000081.4(LYST):c.6918A>G (p.Gly2306=)
|
|
|
|
NM_000081.4(LYST):c.6921A>G (p.Leu2307=)
|
|
|
|
NM_000081.4(LYST):c.6939G>T (p.Gly2313=)
|
|
|
|
NM_000081.4(LYST):c.6952C>G (p.Leu2318Val)
|
|
|
|
NM_000081.4(LYST):c.6952C>T (p.Leu2318=)
|
|
|
|
NM_000081.4(LYST):c.6953T>G (p.Leu2318Arg)
|
|
|
|
NM_000081.4(LYST):c.6954G>A (p.Leu2318=)
|
|
|
|
NM_000081.4(LYST):c.695G>A (p.Gly232Glu)
|
|
|
|
NM_000081.4(LYST):c.695G>C (p.Gly232Ala)
|
|
|
|
NM_000081.4(LYST):c.6960T>C (p.Asp2320=)
|
|
|
|
NM_000081.4(LYST):c.6966G>T (p.Leu2322Phe)
|
|
|
|
NM_000081.4(LYST):c.696G>A (p.Gly232=)
|
|
|
|
NM_000081.4(LYST):c.6978G>A (p.Val2326=)
|
|
|
|
NM_000081.4(LYST):c.6979A>G (p.Met2327Val)
|
|
|
|
NM_000081.4(LYST):c.6982G>A (p.Asp2328Asn)
|
|
|
|
NM_000081.4(LYST):c.6986A>G (p.Lys2329Arg)
|
|
|
|
NM_000081.4(LYST):c.69G>A (p.Val23=)
|
|
|
|
NM_000081.4(LYST):c.7003A>G (p.Thr2335Ala)
|
|
|
|
NM_000081.4(LYST):c.700A>G (p.Asn234Asp)
|
|
|
|
NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)
|
|
|
|
NM_000081.4(LYST):c.7011G>A (p.Leu2337=)
|
|
|
|
NM_000081.4(LYST):c.7017C>T (p.Leu2339=)
|
|
|
|
NM_000081.4(LYST):c.7018G>A (p.Val2340Ile)
|
|
|
|
NM_000081.4(LYST):c.7023C>T (p.Asn2341=)
|
|
|
|
NM_000081.4(LYST):c.702C>T (p.Asn234=)
|
|
|
|
NM_000081.4(LYST):c.7032A>G (p.Ser2344=)
|
|
|
|
NM_000081.4(LYST):c.7035A>G (p.Pro2345=)
|
|
|
|
NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)
|
|
|
|
NM_000081.4(LYST):c.7059+13A>G
|
|
|
|
NM_000081.4(LYST):c.7059+14C>T
|
|
|
|
NM_000081.4(LYST):c.7059+8C>A
|
|
|
|
NM_000081.4(LYST):c.705T>G (p.Thr235=)
|
|
|
|
NM_000081.4(LYST):c.7060-10T>C
|
|
|
|
NM_000081.4(LYST):c.7060-11T>C
|
|
|
|
NM_000081.4(LYST):c.7060-11T>G
|
|
|
|
NM_000081.4(LYST):c.7060-12T>A
|
|
|
|
NM_000081.4(LYST):c.7060-19A>G
|
|
|
|
NM_000081.4(LYST):c.7060-6G>A
|
|
|
|
NM_000081.4(LYST):c.7060-7T>G
|
|
|
|
NM_000081.4(LYST):c.7060-8_7060-7del
|
|
|
|
NM_000081.4(LYST):c.7062A>G (p.Leu2354=)
|
|
|
|
NM_000081.4(LYST):c.7066G>C (p.Asp2356His)
|
|
|
|
NM_000081.4(LYST):c.7070C>G (p.Ala2357Gly)
|
rs199576020
|
|
|
NM_000081.4(LYST):c.7071A>G (p.Ala2357=)
|
|
|
|
NM_000081.4(LYST):c.7078G>A (p.Ala2360Thr)
|
|
|
|
NM_000081.4(LYST):c.7080T>A (p.Ala2360=)
|
|
|
|
NM_000081.4(LYST):c.7080T>C (p.Ala2360=)
|
|
|
|
NM_000081.4(LYST):c.708C>T (p.Asp236=)
|
|
|
|
NM_000081.4(LYST):c.7092G>A (p.Lys2364=)
|
|
|
|
NM_000081.4(LYST):c.7095A>G (p.Glu2365=)
|
|
|
|
NM_000081.4(LYST):c.70G>T (p.Val24Phe)
|
|
|
|
NM_000081.4(LYST):c.7107A>G (p.Lys2369=)
|
|
|
|
NM_000081.4(LYST):c.7120C>T (p.Arg2374Cys)
|
|
|
|
NM_000081.4(LYST):c.7121G>A (p.Arg2374His)
|
|
|
|
NM_000081.4(LYST):c.7135dup (p.Leu2379fs)
|
|
|
|
NM_000081.4(LYST):c.7136T>C (p.Leu2379Pro)
|
|
|
|
NM_000081.4(LYST):c.713_714insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGGGCGCGGACGGGGAGCCGGGCCCGGAGCCGCCGTCACGGCCGCGACCGCCCCGCGGGGCCGGCCTGGGCCGCGCTCAAACACTGACATTTT (p.Ile237_Leu238insPhePhePhePhePhePhePheXaaXaaXaaXaaGlyArgGlyArgGlyAlaGlyProGlyAlaAlaValThrAlaAlaThrAlaProArgGlyArgProGlyProArgSerAsnThrAspIle)
|
|
|
|
NM_000081.4(LYST):c.7149G>A (p.Leu2383=)
|
|
|
|
NM_000081.4(LYST):c.7157A>G (p.His2386Arg)
|
|
|
|
NM_000081.4(LYST):c.7160G>A (p.Arg2387Gln)
|
|
|
|
NM_000081.4(LYST):c.7168C>T (p.Gln2390Ter)
|
|
|
|
NM_000081.4(LYST):c.716G>T (p.Ser239Ile)
|
|
|
|
NM_000081.4(LYST):c.7170A>G (p.Gln2390=)
|
|
|
|
NM_000081.4(LYST):c.7176G>A (p.Leu2392=)
|
|
|
|
NM_000081.4(LYST):c.717T>C (p.Ser239=)
|
|
|
|
NM_000081.4(LYST):c.7181A>G (p.Glu2394Gly)
|
|
|
|
NM_000081.4(LYST):c.7189A>G (p.Ile2397Val)
|
|
|
|
NM_000081.4(LYST):c.7192G>A (p.Glu2398Lys)
|
|
|
|
NM_000081.4(LYST):c.7194A>T (p.Glu2398Asp)
|
|
|
|
NM_000081.4(LYST):c.7197G>A (p.Met2399Ile)
|
|
|
|
NM_000081.4(LYST):c.7199T>C (p.Phe2400Ser)
|
|
|
|
NM_000081.4(LYST):c.71T>C (p.Val24Ala)
|
|
|
|
NM_000081.4(LYST):c.71T>G (p.Val24Gly)
|
|
|
|
NM_000081.4(LYST):c.7206T>C (p.Gly2402=)
|
|
|
|
NM_000081.4(LYST):c.7208G>A (p.Arg2403Gln)
|
|
|
|
NM_000081.4(LYST):c.7210C>T (p.His2404Tyr)
|
|
|
|
NM_000081.4(LYST):c.7217G>A (p.Gly2406Asp)
|
|
|
|
NM_000081.4(LYST):c.7218C>A (p.Gly2406=)
|
|
|
|
NM_000081.4(LYST):c.7218C>T (p.Gly2406=)
|
|
|
|
NM_000081.4(LYST):c.7223A>T (p.Asp2408Val)
|
|
|
|
NM_000081.4(LYST):c.7225G>A (p.Glu2409Lys)
|
|
|
|
NM_000081.4(LYST):c.7228G>A (p.Glu2410Lys)
|
|
|
|
NM_000081.4(LYST):c.7229+13T>C
|
|
|
|
NM_000081.4(LYST):c.7229+15C>T
|
|
|
|
NM_000081.4(LYST):c.7229+16C>T
|
|
|
|
NM_000081.4(LYST):c.7229+18T>G
|
|
|
|
NM_000081.4(LYST):c.7229+50CTTTT[7]
|
rs71174459
|
|
|
NM_000081.4(LYST):c.7229+7G>A
|
|
|
|
NM_000081.4(LYST):c.7229+7G>C
|
|
|
|
NM_000081.4(LYST):c.7229+8T>C
|
|
|
|
NM_000081.4(LYST):c.7230-10T>C
|
|
|
|
NM_000081.4(LYST):c.7230-11A>G
|
|
|
|
NM_000081.4(LYST):c.7230-11A>T
|
|
|
|
NM_000081.4(LYST):c.7230-16G>A
|
|
|
|
NM_000081.4(LYST):c.7230-16_7230-15del
|
|
|
|
NM_000081.4(LYST):c.7230-3T>G
|
|
|
|
NM_000081.4(LYST):c.7234G>T (p.Asp2412Tyr)
|
|
|
|
NM_000081.4(LYST):c.7253A>G (p.Asn2418Ser)
|
|
|
|
NM_000081.4(LYST):c.7254C>T (p.Asn2418=)
|
|
|
|
NM_000081.4(LYST):c.7258G>A (p.Gly2420Arg)
|
|
|
|
NM_000081.4(LYST):c.727G>A (p.Ala243Thr)
|
|
|
|
NM_000081.4(LYST):c.7284T>A (p.Ile2428=)
|
|
|
|
NM_000081.4(LYST):c.7291C>T (p.Leu2431=)
|
|
|
|
NM_000081.4(LYST):c.7291del (p.Leu2431fs)
|
|
|
|
NM_000081.4(LYST):c.7299A>C (p.Leu2433=)
|
|
|
|
NM_000081.4(LYST):c.729C>T (p.Ala243=)
|
|
|
|
NM_000081.4(LYST):c.72C>T (p.Val24=)
|
|
|
|
NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)
|
|
|
|
NM_000081.4(LYST):c.7311T>A (p.Ser2437=)
|
|
|
|
NM_000081.4(LYST):c.7311T>G (p.Ser2437=)
|
|
|
|
NM_000081.4(LYST):c.7314A>G (p.Leu2438=)
|
|
|
|
NM_000081.4(LYST):c.7314A>T (p.Leu2438=)
|
rs756139684
|
|
|
NM_000081.4(LYST):c.7322A>C (p.Asn2441Thr)
|
|
|
|
NM_000081.4(LYST):c.7327C>T (p.Leu2443Phe)
|
|
|
|
NM_000081.4(LYST):c.7350TCT[1] (p.Leu2452del)
|
|
|
|
NM_000081.4(LYST):c.736G>C (p.Val246Leu)
|
|
|
|
NM_000081.4(LYST):c.7370C>A (p.Ser2457Tyr)
|
|
|
|
NM_000081.4(LYST):c.737T>C (p.Val246Ala)
|
|
|
|
NM_000081.4(LYST):c.7385C>A (p.Ala2462Glu)
|
|
|
|
NM_000081.4(LYST):c.7389T>C (p.Asp2463=)
|
|
|
|
NM_000081.4(LYST):c.738T>C (p.Val246=)
|
|
|
|
NM_000081.4(LYST):c.7392G>C (p.Met2464Ile)
|
|
|
|
NM_000081.4(LYST):c.7392G>T (p.Met2464Ile)
|
|
|
|
NM_000081.4(LYST):c.7395G>A (p.Leu2465=)
|
|
|
|
NM_000081.4(LYST):c.7403A>C (p.Asn2468Thr)
|
|
|
|
NM_000081.4(LYST):c.740T>C (p.Ile247Thr)
|
|
|
|
NM_000081.4(LYST):c.740_742del (p.Ile247del)
|
|
|
|
NM_000081.4(LYST):c.7410A>G (p.Leu2470=)
|
|
|
|
NM_000081.4(LYST):c.7415A>G (p.Tyr2472Cys)
|
|
|
|
NM_000081.4(LYST):c.741C>T (p.Ile247=)
|
|
|
|
NM_000081.4(LYST):c.7430C>T (p.Thr2477Ile)
|
|
|
|
NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)
|
|
|
|
NM_000081.4(LYST):c.7447G>A (p.Gly2483Arg)
|
|
|
|
NM_000081.4(LYST):c.7449A>T (p.Gly2483=)
|
|
|
|
NM_000081.4(LYST):c.7453G>A (p.Glu2485Lys)
|
|
|
|
NM_000081.4(LYST):c.7454A>G (p.Glu2485Gly)
|
|
|
|
NM_000081.4(LYST):c.7457A>G (p.Lys2486Arg)
|
|
|
|
NM_000081.4(LYST):c.7460+11A>T
|
|
|
|
NM_000081.4(LYST):c.7460+18A>T
|
|
|
|
NM_000081.4(LYST):c.7460+19T>C
|
|
|
|
NM_000081.4(LYST):c.7460+2T>A
|
|
|
|
NM_000081.4(LYST):c.7460+3_7460+6del
|
|
|
|
NM_000081.4(LYST):c.7461-11_7461-9del
|
rs777633676
|
|
|
NM_000081.4(LYST):c.7461-14G>C
|
|
|
|
NM_000081.4(LYST):c.7461-16T>A
|
|
|
|
NM_000081.4(LYST):c.7461-1G>A
|
|
|
|
NM_000081.4(LYST):c.7461-5T>C
|
|
|
|
NM_000081.4(LYST):c.7461-6C>A
|
|
|
|
NM_000081.4(LYST):c.7461-7T>C
|
|
|
|
NM_000081.4(LYST):c.7485G>A (p.Leu2495=)
|
|
|
|
NM_000081.4(LYST):c.7489G>A (p.Ala2497Thr)
|
|
|
|
NM_000081.4(LYST):c.748A>G (p.Met250Val)
|
|
|
|
NM_000081.4(LYST):c.7491T>C (p.Ala2497=)
|
|
|
|
NM_000081.4(LYST):c.7494T>G (p.Cys2498Trp)
|
|
|
|
NM_000081.4(LYST):c.7499del (p.Ile2500fs)
|
|
|
|
NM_000081.4(LYST):c.74A>G (p.Gln25Arg)
|
|
|
|
NM_000081.4(LYST):c.7504C>G (p.Gln2502Glu)
|
|
|
|
NM_000081.4(LYST):c.7506A>C (p.Gln2502His)
|
|
|
|
NM_000081.4(LYST):c.7515A>G (p.Ile2505Met)
|
|
|
|
NM_000081.4(LYST):c.7521T>C (p.Val2507=)
|
|
|
|
NM_000081.4(LYST):c.7527T>A (p.Ile2509=)
|
|
|
|
NM_000081.4(LYST):c.7529A>G (p.His2510Arg)
|
|
|
|
NM_000081.4(LYST):c.7541C>T (p.Ser2514Phe)
|
|
|
|
NM_000081.4(LYST):c.754A>G (p.Asn252Asp)
|
|
|
|
NM_000081.4(LYST):c.7554A>G (p.Gln2518=)
|
|
|
|
NM_000081.4(LYST):c.7555del (p.Tyr2519fs)
|
rs80338662
|
|
|
NM_000081.4(LYST):c.7556A>T (p.Tyr2519Phe)
|
|
|
|
NM_000081.4(LYST):c.7562G>C (p.Arg2521Thr)
|
|
|
|
NM_000081.4(LYST):c.7571A>G (p.Glu2524Gly)
|
|
|
|
NM_000081.4(LYST):c.7576C>T (p.Leu2526Phe)
|
|
|
|
NM_000081.4(LYST):c.7584A>G (p.Val2528=)
|
|
|
|
NM_000081.4(LYST):c.7593A>T (p.Gly2531=)
|
|
|
|
NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys)
|
|
|
|
NM_000081.4(LYST):c.7620G>A (p.Arg2540=)
|
|
|
|
NM_000081.4(LYST):c.7625A>G (p.Gln2542Arg)
|
|
|
|
NM_000081.4(LYST):c.7627+11A>T
|
|
|
|
NM_000081.4(LYST):c.7627+14T>G
|
|
|
|
NM_000081.4(LYST):c.7627+6A>G
|
|
|
|
NM_000081.4(LYST):c.7627+8T>G
|
|
|
|
NM_000081.4(LYST):c.7628-20C>A
|
|
|
|
NM_000081.4(LYST):c.762A>G (p.Pro254=)
|
|
|
|
NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)
|
|
|
|
NM_000081.4(LYST):c.7640C>T (p.Ala2547Val)
|
|
|
|
NM_000081.4(LYST):c.7641A>C (p.Ala2547=)
|
|
|
|
NM_000081.4(LYST):c.7641A>G (p.Ala2547=)
|
|
|
|
NM_000081.4(LYST):c.7644A>G (p.Leu2548=)
|
|
|
|
NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)
|
|
|
|
NM_000081.4(LYST):c.7647G>A (p.Gln2549=)
|
|
|
|
NM_000081.4(LYST):c.7659C>G (p.Leu2553=)
|
|
|
|
NM_000081.4(LYST):c.7659C>T (p.Leu2553=)
|
|
|
|
NM_000081.4(LYST):c.7661A>G (p.Gln2554Arg)
|
|
|
|
NM_000081.4(LYST):c.7668T>C (p.Ala2556=)
|
|
|
|
NM_000081.4(LYST):c.7674A>G (p.Glu2558=)
|
|
|
|
NM_000081.4(LYST):c.7678A>G (p.Ile2560Val)
|
|
|
|
NM_000081.4(LYST):c.7686C>T (p.Thr2562=)
|
|
|
|
NM_000081.4(LYST):c.7688C>T (p.Thr2563Ile)
|
|
|
|
NM_000081.4(LYST):c.7689C>A (p.Thr2563=)
|
|
|
|
NM_000081.4(LYST):c.7689C>T (p.Thr2563=)
|
|
|
|
NM_000081.4(LYST):c.7691C>T (p.Ala2564Val)
|
|
|
|
NM_000081.4(LYST):c.7697A>C (p.His2566Pro)
|
|
|
|
NM_000081.4(LYST):c.7697A>G (p.His2566Arg)
|
|
|
|
NM_000081.4(LYST):c.7701C>G (p.Asp2567Glu)
|
|
|
|
NM_000081.4(LYST):c.7707A>G (p.Glu2569=)
|
|
|
|
NM_000081.4(LYST):c.7714A>G (p.Thr2572Ala)
|
|
|
|
NM_000081.4(LYST):c.7722A>G (p.Ser2574=)
|
rs1251999777
|
|
|
NM_000081.4(LYST):c.7725C>G (p.Leu2575=)
|
|
|
|
NM_000081.4(LYST):c.7728G>A (p.Gln2576=)
|
|
|
|
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
|
|
|
|
NM_000081.4(LYST):c.7737T>C (p.Ser2579=)
|
|
|
|
NM_000081.4(LYST):c.7739C>T (p.Ala2580Val)
|
|
|
|
NM_000081.4(LYST):c.7743C>T (p.Pro2581=)
|
|
|
|
NM_000081.4(LYST):c.7744C>T (p.His2582Tyr)
|
|
|
|
NM_000081.4(LYST):c.7749T>C (p.His2583=)
|
|
|
|
NM_000081.4(LYST):c.774T>C (p.Cys258=)
|
|
|
|
NM_000081.4(LYST):c.7751C>T (p.Ala2584Val)
|
|
|
|
NM_000081.4(LYST):c.7755A>G (p.Val2585=)
|
|
|
|
NM_000081.4(LYST):c.7756G>C (p.Val2586Leu)
|
|
|
|
NM_000081.4(LYST):c.7758T>G (p.Val2586=)
|
|
|
|
NM_000081.4(LYST):c.7766G>A (p.Arg2589Gln)
|
|
|
|
NM_000081.4(LYST):c.7771A>G (p.Ser2591Gly)
|
|
|
|
NM_000081.4(LYST):c.7772G>A (p.Ser2591Asn)
|
|
|
|
NM_000081.4(LYST):c.7774A>T (p.Ile2592Phe)
|
|
|
|
NM_000081.4(LYST):c.777T>C (p.His259=)
|
|
|
|
NM_000081.4(LYST):c.7780+11A>C
|
|
|
|
NM_000081.4(LYST):c.7780+13A>G
|
|
|
|
NM_000081.4(LYST):c.7780+17T>C
|
|
|
|
NM_000081.4(LYST):c.7780+3G>A
|
|
|
|
NM_000081.4(LYST):c.7781-10A>G
|
|
|
|
NM_000081.4(LYST):c.7781-12A>T
|
|
|
|
NM_000081.4(LYST):c.7781-16T>C
|
|
|
|
NM_000081.4(LYST):c.7781-19A>C
|
|
|
|
NM_000081.4(LYST):c.7781-1G>T
|
|
|
|
NM_000081.4(LYST):c.7781-5T>C
|
|
|
|
NM_000081.4(LYST):c.7781-6T>A
|
|
|
|
NM_000081.4(LYST):c.7781-6T>C
|
|
|
|
NM_000081.4(LYST):c.7781-9C>T
|
|
|
|
NM_000081.4(LYST):c.7784C>T (p.Pro2595Leu)
|
|
|
|
NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter)
|
|
|
|
NM_000081.4(LYST):c.7787G>A (p.Arg2596Gln)
|
|
|
|
NM_000081.4(LYST):c.7791A>G (p.Lys2597=)
|
|
|
|
NM_000081.4(LYST):c.7792T>C (p.Phe2598Leu)
|
|
|
|
NM_000081.4(LYST):c.7798C>T (p.Leu2600Phe)
|
|
|
|
NM_000081.4(LYST):c.7805A>G (p.Gln2602Arg)
|
|
|
|
NM_000081.4(LYST):c.7812A>G (p.Glu2604=)
|
|
|
|
NM_000081.4(LYST):c.7814C>T (p.Ser2605Leu)
|
|
|
|
NM_000081.4(LYST):c.7831C>T (p.Arg2611Cys)
|
|
|
|
NM_000081.4(LYST):c.7832G>A (p.Arg2611His)
|
|
|
|
NM_000081.4(LYST):c.7834T>C (p.Ser2612Pro)
|
|
|
|
NM_000081.4(LYST):c.7836A>G (p.Ser2612=)
|
|
|
|
NM_000081.4(LYST):c.7840G>A (p.Ala2614Thr)
|
|
|
|
NM_000081.4(LYST):c.7843A>G (p.Asn2615Asp)
|
|
|
|
NM_000081.4(LYST):c.7845T>C (p.Asn2615=)
|
|
|
|
NM_000081.4(LYST):c.7846G>T (p.Asp2616Tyr)
|
|
|
|
NM_000081.4(LYST):c.7856A>G (p.His2619Arg)
|
|
|
|
NM_000081.4(LYST):c.7859T>C (p.Val2620Ala)
|
|
|
|
NM_000081.4(LYST):c.7865T>C (p.Met2622Thr)
|
|
|
|
NM_000081.4(LYST):c.7869A>G (p.Gln2623=)
|
|
|
|
NM_000081.4(LYST):c.7870C>A (p.Arg2624=)
|
|
|
|
NM_000081.4(LYST):c.7871G>A (p.Arg2624Gln)
|
|
|
|
NM_000081.4(LYST):c.7882C>G (p.Gln2628Glu)
|
|
|
|
NM_000081.4(LYST):c.7890C>T (p.Asn2630=)
|
|
|
|
NM_000081.4(LYST):c.7901C>T (p.Ala2634Val)
|
|
|
|
NM_000081.4(LYST):c.790T>G (p.Leu264Val)
|
|
|
|
NM_000081.4(LYST):c.7910C>A (p.Thr2637Lys)
|
|
|
|
NM_000081.4(LYST):c.7910C>T (p.Thr2637Met)
|
|
|
|
NM_000081.4(LYST):c.7914A>G (p.Glu2638=)
|
|
|
|
NM_000081.4(LYST):c.7916T>A (p.Leu2639His)
|
|
|
|
NM_000081.4(LYST):c.7919C>T (p.Ala2640Val)
|
|
|
|
NM_000081.4(LYST):c.7920G>A (p.Ala2640=)
|
|
|
|
NM_000081.4(LYST):c.7922A>G (p.Gln2641Arg)
|
|
|
|
NM_000081.4(LYST):c.7929A>C (p.Leu2643=)
|
|
|
|
NM_000081.4(LYST):c.792A>G (p.Leu264=)
|
|
|
|
NM_000081.4(LYST):c.7931A>G (p.Gln2644Arg)
|
|
|
|
NM_000081.4(LYST):c.7935G>A (p.Arg2645=)
|
|
|
|
NM_000081.4(LYST):c.7944T>C (p.Val2648=)
|
|
|
|
NM_000081.4(LYST):c.7946T>C (p.Leu2649Ser)
|
|
|
|
NM_000081.4(LYST):c.7957A>G (p.Arg2653Gly)
|
|
|
|
NM_000081.4(LYST):c.7972+10T>A
|
|
|
|
NM_000081.4(LYST):c.7972+11A>G
|
|
|
|
NM_000081.4(LYST):c.7972+12G>A
|
|
|
|
NM_000081.4(LYST):c.7972+17A>G
|
|
|
|
NM_000081.4(LYST):c.7972+9A>G
|
|
|
|
NM_000081.4(LYST):c.7973-11del
|
|
|
|
NM_000081.4(LYST):c.7973-15T>C
|
|
|
|
NM_000081.4(LYST):c.7973-16T>A
|
|
|
|
NM_000081.4(LYST):c.7973-18C>A
|
|
|
|
NM_000081.4(LYST):c.7973-5C>G
|
|
|
|
NM_000081.4(LYST):c.7973-7T>G
|
|
|
|
NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)
|
|
|
|
NM_000081.4(LYST):c.7975T>C (p.Phe2659Leu)
|
|
|
|
NM_000081.4(LYST):c.797A>G (p.Glu266Gly)
|
|
|
|
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
|
|
|
|
NM_000081.4(LYST):c.7983A>G (p.Ser2661=)
|
|
|
|
NM_000081.4(LYST):c.7989T>C (p.Ile2663=)
|
|
|
|
NM_000081.4(LYST):c.7991T>C (p.Ile2664Thr)
|
|
|
|
NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)
|
|
|
|
NM_000081.4(LYST):c.7995C>T (p.Asp2665=)
|
|
|
|
NM_000081.4(LYST):c.8003G>A (p.Arg2668Lys)
|
|
|
|
NM_000081.4(LYST):c.8014A>G (p.Asn2672Asp)
|
|
|
|
NM_000081.4(LYST):c.8016T>C (p.Asn2672=)
|
|
|
|
NM_000081.4(LYST):c.8025A>G (p.Gln2675=)
|
|
|
|
NM_000081.4(LYST):c.8032A>T (p.Thr2678Ser)
|
|
|
|
NM_000081.4(LYST):c.8034C>T (p.Thr2678=)
|
|
|
|
NM_000081.4(LYST):c.8036C>T (p.Ser2679Leu)
|
|
|
|
NM_000081.4(LYST):c.8037A>G (p.Ser2679=)
|
|
|
|
NM_000081.4(LYST):c.8047A>T (p.Thr2683Ser)
|
|
|
|
NM_000081.4(LYST):c.8049C>T (p.Thr2683=)
|
|
|
|
NM_000081.4(LYST):c.8050G>A (p.Glu2684Lys)
|
|
|
|
NM_000081.4(LYST):c.8059G>A (p.Glu2687Lys)
|
|
|
|
NM_000081.4(LYST):c.8061G>A (p.Glu2687=)
|
|
|
|
NM_000081.4(LYST):c.8065A>G (p.Asn2689Asp)
|
|
|
|
NM_000081.4(LYST):c.8069T>C (p.Ile2690Thr)
|
|
|
|
NM_000081.4(LYST):c.8072A>T (p.His2691Leu)
|
|
|
|
NM_000081.4(LYST):c.8077G>C (p.Glu2693Gln)
|
|
|
|
NM_000081.4(LYST):c.8079A>G (p.Glu2693=)
|
|
|
|
NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter)
|
|
|
|
NM_000081.4(LYST):c.8085T>G (p.Ser2695=)
|
|
|
|
NM_000081.4(LYST):c.8088T>A (p.Ser2696=)
|
|
|
|
NM_000081.4(LYST):c.8088T>G (p.Ser2696=)
|
|
|
|
NM_000081.4(LYST):c.8093T>G (p.Phe2698Cys)
|
|
|
|
NM_000081.4(LYST):c.8094C>T (p.Phe2698=)
|
|
|
|
NM_000081.4(LYST):c.8100A>G (p.Pro2700=)
|
|
|
|
NM_000081.4(LYST):c.810G>A (p.Lys270=)
|
|
|
|
NM_000081.4(LYST):c.8113A>G (p.Ile2705Val)
|
|
|
|
NM_000081.4(LYST):c.8121A>G (p.Thr2707=)
|
|
|
|
NM_000081.4(LYST):c.8121A>T (p.Thr2707=)
|
|
|
|
NM_000081.4(LYST):c.8122dup (p.Tyr2708fs)
|
|
|
|
NM_000081.4(LYST):c.8125C>G (p.Leu2709Val)
|
|
|
|
NM_000081.4(LYST):c.8125C>T (p.Leu2709=)
|
|
|
|
NM_000081.4(LYST):c.8141A>G (p.Lys2714Arg)
|
|
|
|
NM_000081.4(LYST):c.8146T>G (p.Ser2716Ala)
|
|
|
|
NM_000081.4(LYST):c.8151+10T>C
|
|
|
|
NM_000081.4(LYST):c.8151+15T>C
|
|
|
|
NM_000081.4(LYST):c.8151+9_8151+13del
|
|
|
|
NM_000081.4(LYST):c.8152-17A>G
|
|
|
|
NM_000081.4(LYST):c.8152-20C>T
|
|
|
|
NM_000081.4(LYST):c.8152-5T>G
|
|
|
|
NM_000081.4(LYST):c.8152-7A>C
|
|
|
|
NM_000081.4(LYST):c.8152-8G>A
|
|
|
|
NM_000081.4(LYST):c.8157A>T (p.Ser2719=)
|
|
|
|
NM_000081.4(LYST):c.8161A>G (p.Lys2721Glu)
|
rs762099794
|
|
|
NM_000081.4(LYST):c.816C>T (p.Asp272=)
|
|
|
|
NM_000081.4(LYST):c.8175C>G (p.Ser2725=)
|
|
|
|
NM_000081.4(LYST):c.8181G>A (p.Gln2727=)
|
|
|
|
NM_000081.4(LYST):c.8190T>C (p.Thr2730=)
|
|
|
|
NM_000081.4(LYST):c.8196T>G (p.Ile2732Met)
|
|
|
|
NM_000081.4(LYST):c.8208T>C (p.Cys2736=)
|
|
|
|
NM_000081.4(LYST):c.8211G>A (p.Lys2737=)
|
|
|
|
NM_000081.4(LYST):c.8216C>T (p.Thr2739Ile)
|
|
|
|
NM_000081.4(LYST):c.8217C>A (p.Thr2739=)
|
|
|
|
NM_000081.4(LYST):c.8222G>A (p.Arg2741Gln)
|
|
|
|
NM_000081.4(LYST):c.8224A>C (p.Met2742Leu)
|
|
|
|
NM_000081.4(LYST):c.8239C>G (p.Leu2747Val)
|
|
|
|
NM_000081.4(LYST):c.8242C>G (p.Leu2748Val)
|
|
|
|
NM_000081.4(LYST):c.8244A>C (p.Leu2748=)
|
|
|
|
NM_000081.4(LYST):c.824T>G (p.Leu275Trp)
|
|
|
|
NM_000081.4(LYST):c.8251A>G (p.Ile2751Val)
|
|
|
|
NM_000081.4(LYST):c.8258C>T (p.Ser2753Leu)
|
|
|
|
NM_000081.4(LYST):c.8259G>T (p.Ser2753=)
|
|
|
|
NM_000081.4(LYST):c.826A>C (p.Asn276His)
|
|
|
|
NM_000081.4(LYST):c.8271T>A (p.Ala2757=)
|
|
|
|
NM_000081.4(LYST):c.8272G>A (p.Ala2758Thr)
|
|
|
|
NM_000081.4(LYST):c.8280G>A (p.Glu2760=)
|
|
|
|
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
|
|
|
|
NM_000081.4(LYST):c.8292T>A (p.Ile2764=)
|
|
|
|
NM_000081.4(LYST):c.829C>G (p.His277Asp)
|
|
|
|
NM_000081.4(LYST):c.8302G>T (p.Val2768Phe)
|
|
|
|
NM_000081.4(LYST):c.8305C>T (p.His2769Tyr)
|
|
|
|
NM_000081.4(LYST):c.8306A>G (p.His2769Arg)
|
|
|
|
NM_000081.4(LYST):c.8307T>C (p.His2769=)
|
|
|
|
NM_000081.4(LYST):c.8311C>A (p.Pro2771Thr)
|
|
|
|
NM_000081.4(LYST):c.8311C>T (p.Pro2771Ser)
|
|
|
|
NM_000081.4(LYST):c.8313A>T (p.Pro2771=)
|
|
|
|
NM_000081.4(LYST):c.8328A>G (p.Ile2776Met)
|
|
|
|
NM_000081.4(LYST):c.8329C>T (p.Leu2777=)
|
|
|
|
NM_000081.4(LYST):c.8331A>G (p.Leu2777=)
|
|
|
|
NM_000081.4(LYST):c.8336A>G (p.Asp2779Gly)
|
|
|
|
NM_000081.4(LYST):c.833A>G (p.Asn278Ser)
|
|
|
|
NM_000081.4(LYST):c.8340T>C (p.Cys2780=)
|
|
|
|
NM_000081.4(LYST):c.8349A>G (p.Pro2783=)
|
|
|
|
NM_000081.4(LYST):c.8351C>G (p.Ser2784Cys)
|
|
|
|
NM_000081.4(LYST):c.8352C>T (p.Ser2784=)
|
|
|
|
NM_000081.4(LYST):c.8355A>G (p.Leu2785=)
|
|
|
|
NM_000081.4(LYST):c.8357A>C (p.Gln2786Pro)
|
|
|
|
NM_000081.4(LYST):c.8358+11C>T
|
|
|
|
NM_000081.4(LYST):c.8358+15T>C
|
|
|
|
NM_000081.4(LYST):c.8358+17_8358+18del
|
|
|
|
NM_000081.4(LYST):c.8358+1G>C
|
|
|
|
NM_000081.4(LYST):c.8358+20T>C
|
|
|
|
NM_000081.4(LYST):c.8358+2T>C
|
|
|
|
NM_000081.4(LYST):c.8358+2T>G
|
|
|
|
NM_000081.4(LYST):c.8358+5G>C
|
|
|
|
NM_000081.4(LYST):c.8358+7A>G
|
|
|
|
NM_000081.4(LYST):c.8358+7A>T
|
rs752173624
|
|
|
NM_000081.4(LYST):c.8359-11T>C
|
|
|
|
NM_000081.4(LYST):c.8359-13A>C
|
|
|
|
NM_000081.4(LYST):c.8359-13A>G
|
|
|
|
NM_000081.4(LYST):c.8359-14T>A
|
|
|
|
NM_000081.4(LYST):c.8359-15T>C
|
|
|
|
NM_000081.4(LYST):c.8359-18T>A
|
|
|
|
NM_000081.4(LYST):c.8359-19del
|
|
|
|
NM_000081.4(LYST):c.8359-21_8359-19del
|
|
|
|
NM_000081.4(LYST):c.8359-5dup
|
|
|
|
NM_000081.4(LYST):c.8359-9T>C
|
|
|
|
NM_000081.4(LYST):c.8361T>C (p.His2787=)
|
|
|
|
NM_000081.4(LYST):c.8367C>A (p.Ala2789=)
|
|
|
|
NM_000081.4(LYST):c.8373_8376del (p.Leu2791fs)
|
|
|
|
NM_000081.4(LYST):c.8378del (p.Leu2793fs)
|
|
|
|
NM_000081.4(LYST):c.8385G>A (p.Leu2795=)
|
|
|
|
NM_000081.4(LYST):c.8390A>C (p.Glu2797Ala)
|
|
|
|
NM_000081.4(LYST):c.8390A>G (p.Glu2797Gly)
|
|
|
|
NM_000081.4(LYST):c.8392T>C (p.Leu2798=)
|
|
|
|
NM_000081.4(LYST):c.8395A>G (p.Ile2799Val)
|
|
|
|
NM_000081.4(LYST):c.83A>G (p.Glu28Gly)
|
|
|
|
NM_000081.4(LYST):c.8401A>T (p.Asn2801Tyr)
|
|
|
|
NM_000081.4(LYST):c.8416T>C (p.Leu2806=)
|
|
|
|
NM_000081.4(LYST):c.8418G>A (p.Leu2806=)
|
|
|
|
NM_000081.4(LYST):c.8421T>C (p.Thr2807=)
|
|
|
|
NM_000081.4(LYST):c.8424A>G (p.Glu2808=)
|
|
|
|
NM_000081.4(LYST):c.8425dup (p.Glu2809fs)
|
|
|
|
NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)
|
|
|
|
NM_000081.4(LYST):c.8427A>G (p.Glu2809=)
|
|
|
|
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys)
|
rs80338663
|
|
|
NM_000081.4(LYST):c.8435G>T (p.Gly2812Val)
|
|
|
|
NM_000081.4(LYST):c.8438C>A (p.Thr2813Lys)
|
|
|
|
NM_000081.4(LYST):c.8438C>T (p.Thr2813Ile)
|
|
|
|
NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)
|
|
|
|
NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln)
|
|
|
|
NM_000081.4(LYST):c.8456A>C (p.Asn2819Thr)
|
|
|
|
NM_000081.4(LYST):c.8458G>A (p.Ala2820Thr)
|
|
|
|
NM_000081.4(LYST):c.8461T>C (p.Leu2821=)
|
|
|
|
NM_000081.4(LYST):c.8471G>A (p.Cys2824Tyr)
|
|
|
|
NM_000081.4(LYST):c.8472T>C (p.Cys2824=)
|
|
|
|
NM_000081.4(LYST):c.8480A>G (p.Lys2827Arg)
|
|
|
|
NM_000081.4(LYST):c.8488C>A (p.Pro2830Thr)
|
|
|
|
NM_000081.4(LYST):c.8496T>C (p.Ser2832=)
|
|
|
|
NM_000081.4(LYST):c.8499A>G (p.Ala2833=)
|
|
|
|
NM_000081.4(LYST):c.8503A>G (p.Thr2835Ala)
|
|
|
|
NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)
|
|
|
|
NM_000081.4(LYST):c.8514C>T (p.Asp2838=)
|
|
|
|
NM_000081.4(LYST):c.8526G>A (p.Met2842Ile)
|
|
|
|
NM_000081.4(LYST):c.852T>A (p.Ser284Arg)
|
|
|
|
NM_000081.4(LYST):c.8535+15C>T
|
|
|
|
NM_000081.4(LYST):c.8535+18T>G
|
|
|
|
NM_000081.4(LYST):c.8535+20G>A
|
|
|
|
NM_000081.4(LYST):c.8535+7C>T
|
|
|
|
NM_000081.4(LYST):c.8536-11A>G
|
|
|
|
NM_000081.4(LYST):c.8536-13C>G
|
|
|
|
NM_000081.4(LYST):c.8536-14_8536-11del
|
|
|
|
NM_000081.4(LYST):c.8536-16T>C
|
|
|
|
NM_000081.4(LYST):c.8536-1G>A
|
|
|
|
NM_000081.4(LYST):c.8536-5_8536-3del
|
|
|
|
NM_000081.4(LYST):c.8536-8T>A
|
|
|
|
NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)
|
|
|
|
NM_000081.4(LYST):c.8549A>G (p.Tyr2850Cys)
|
|
|
|
NM_000081.4(LYST):c.8556T>C (p.Thr2852=)
|
|
|
|
NM_000081.4(LYST):c.8560G>A (p.Glu2854Lys)
|
|
|
|
NM_000081.4(LYST):c.8560G>C (p.Glu2854Gln)
|
|
|
|
NM_000081.4(LYST):c.8567T>C (p.Val2856Ala)
|
|
|
|
NM_000081.4(LYST):c.8568G>A (p.Val2856=)
|
|
|
|
NM_000081.4(LYST):c.8571T>G (p.Asn2857Lys)
|
|
|
|
NM_000081.4(LYST):c.8572A>C (p.Lys2858Gln)
|
|
|
|
NM_000081.4(LYST):c.8578G>C (p.Ala2860Pro)
|
|
|
|
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter)
|
rs80338664
|
|
|
NM_000081.4(LYST):c.858G>A (p.Val286=)
|
|
|
|
NM_000081.4(LYST):c.858G>T (p.Val286=)
|
|
|
|
NM_000081.4(LYST):c.8593G>A (p.Val2865Ile)
|
|
|
|
NM_000081.4(LYST):c.8612+11A>G
|
|
|
|
NM_000081.4(LYST):c.8612+11A>T
|
|
|
|
NM_000081.4(LYST):c.8612+14T>G
|
|
|
|
NM_000081.4(LYST):c.8612+5G>T
|
|
|
|
NM_000081.4(LYST):c.8613-10_8613-8del
|
|
|
|
NM_000081.4(LYST):c.8613-12T>C
|
|
|
|
NM_000081.4(LYST):c.8613-15T>C
|
|
|
|
NM_000081.4(LYST):c.8613-19A>G
|
|
|
|
NM_000081.4(LYST):c.8613-20C>G
|
|
|
|
NM_000081.4(LYST):c.8613-2A>T
|
|
|
|
NM_000081.4(LYST):c.8613-5T>C
|
|
|
|
NM_000081.4(LYST):c.8613-6_8613-4del
|
|
|
|
NM_000081.4(LYST):c.8613-8T>A
|
|
|
|
NM_000081.4(LYST):c.8617T>C (p.Phe2873Leu)
|
|
|
|
NM_000081.4(LYST):c.8619T>A (p.Phe2873Leu)
|
|
|
|
NM_000081.4(LYST):c.8623C>T (p.Arg2875Cys)
|
|
|
|
NM_000081.4(LYST):c.8624G>A (p.Arg2875His)
|
|
|
|
NM_000081.4(LYST):c.8628G>A (p.Leu2876=)
|
|
|
|
NM_000081.4(LYST):c.8629G>A (p.Asp2877Asn)
|
|
|
|
NM_000081.4(LYST):c.8640A>G (p.Ser2880=)
|
|
|
|
NM_000081.4(LYST):c.8646T>C (p.Asp2882=)
|
|
|
|
NM_000081.4(LYST):c.8649A>T (p.Ile2883=)
|
|
|
|
NM_000081.4(LYST):c.8650T>A (p.Ser2884Thr)
|
|
|
|
NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)
|
|
|
|
NM_000081.4(LYST):c.865C>T (p.Leu289=)
|
|
|
|
NM_000081.4(LYST):c.8661T>C (p.Ala2887=)
|
|
|
|
NM_000081.4(LYST):c.8666A>G (p.Asp2889Gly)
|
|
|
|
NM_000081.4(LYST):c.8668_8669dup (p.Thr2891fs)
|
|
|
|
NM_000081.4(LYST):c.8680G>A (p.Val2894Met)
|
|
|
|
NM_000081.4(LYST):c.8688C>T (p.Leu2896=)
|
|
|
|
NM_000081.4(LYST):c.8691C>T (p.Ser2897=)
|
|
|
|
NM_000081.4(LYST):c.8691_8692del (p.Gln2898fs)
|
|
|
|
NM_000081.4(LYST):c.8717T>C (p.Ile2906Thr)
|
|
|
|
NM_000081.4(LYST):c.8718C>T (p.Ile2906=)
|
|
|
|
NM_000081.4(LYST):c.8727T>C (p.Ile2909=)
|
|
|
|
NM_000081.4(LYST):c.8739T>C (p.Tyr2913=)
|
|
|
|
NM_000081.4(LYST):c.8742A>G (p.Lys2914=)
|
|
|
|
NM_000081.4(LYST):c.8745A>G (p.Val2915=)
|
|
|
|
NM_000081.4(LYST):c.8758A>T (p.Ser2920Cys)
|
|
|
|
NM_000081.4(LYST):c.8760C>T (p.Ser2920=)
|
|
|
|
NM_000081.4(LYST):c.8760del (p.Ser2920fs)
|
|
|
|
NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)
|
|
|
|
NM_000081.4(LYST):c.876C>T (p.Phe292=)
|
|
|
|
NM_000081.4(LYST):c.8801+10G>A
|
|
|
|
NM_000081.4(LYST):c.8801+10G>C
|
|
|
|
NM_000081.4(LYST):c.8801+11G>A
|
|
|
|
NM_000081.4(LYST):c.8801+14G>T
|
|
|
|
NM_000081.4(LYST):c.8801+15G>C
|
|
|
|
NM_000081.4(LYST):c.8801+15G>T
|
|
|
|
NM_000081.4(LYST):c.8801+1G>A
|
|
|
|
NM_000081.4(LYST):c.8801+8G>A
|
|
|
|
NM_000081.4(LYST):c.8801+9C>T
|
|
|
|
NM_000081.4(LYST):c.8801G>C (p.Arg2934Thr)
|
|
|
|
NM_000081.4(LYST):c.8802-14C>A
|
|
|
|
NM_000081.4(LYST):c.8802-14C>G
|
|
|
|
NM_000081.4(LYST):c.8802-15T>A
|
|
|
|
NM_000081.4(LYST):c.8802-2A>G
|
|
|
|
NM_000081.4(LYST):c.8802-5T>C
|
|
|
|
NM_000081.4(LYST):c.8802-6T>C
|
|
|
|
NM_000081.4(LYST):c.8802-9T>C
|
|
|
|
NM_000081.4(LYST):c.8802A>G (p.Arg2934=)
|
|
|
|
NM_000081.4(LYST):c.8803G>A (p.Ala2935Thr)
|
|
|
|
NM_000081.4(LYST):c.8804C>A (p.Ala2935Glu)
|
|
|
|
NM_000081.4(LYST):c.8808A>G (p.Val2936=)
|
|
|
|
NM_000081.4(LYST):c.8818C>A (p.Pro2940Thr)
|
|
|
|
NM_000081.4(LYST):c.8818C>T (p.Pro2940Ser)
|
rs375839384
|
|
|
NM_000081.4(LYST):c.8823C>T (p.Ile2941=)
|
|
|
|
NM_000081.4(LYST):c.8827T>C (p.Tyr2943His)
|
|
|
|
NM_000081.4(LYST):c.8830C>T (p.Pro2944Ser)
|
|
|
|
NM_000081.4(LYST):c.8833A>G (p.Thr2945Ala)
|
|
|
|
NM_000081.4(LYST):c.885C>T (p.Gly295=)
|
|
|
|
NM_000081.4(LYST):c.8864C>T (p.Pro2955Leu)
|
|
|
|
NM_000081.4(LYST):c.8869C>T (p.Arg2957Ter)
|
|
|
|
NM_000081.4(LYST):c.8872G>C (p.Glu2958Gln)
|
|
|
|
NM_000081.4(LYST):c.8877G>C (p.Arg2959Ser)
|
|
|
|
NM_000081.4(LYST):c.8877_8878delinsAG (p.Arg2960Gly)
|
|
|
|
NM_000081.4(LYST):c.8882G>A (p.Arg2961His)
|
|
|
|
NM_000081.4(LYST):c.8886A>G (p.Leu2962=)
|
|
|
|
NM_000081.4(LYST):c.8887C>A (p.Gln2963Lys)
|
|
|
|
NM_000081.4(LYST):c.889G>A (p.Gly297Arg)
|
|
|
|
NM_000081.4(LYST):c.8905A>G (p.Ile2969Val)
|
|
|
|
NM_000081.4(LYST):c.890G>A (p.Gly297Glu)
|
|
|
|
NM_000081.4(LYST):c.8912A>G (p.Asn2971Ser)
|
|
|
|
NM_000081.4(LYST):c.8931T>C (p.Asp2977=)
|
|
|
|
NM_000081.4(LYST):c.8933G>C (p.Arg2978Thr)
|
|
|
|
NM_000081.4(LYST):c.8940A>C (p.Lys2980Asn)
|
|
|
|
NM_000081.4(LYST):c.8943A>G (p.Ser2981=)
|
|
|
|
NM_000081.4(LYST):c.8947+6A>C
|
|
|
|
NM_000081.4(LYST):c.8948-12del
|
|
|
|
NM_000081.4(LYST):c.8948-14T>C
|
|
|
|
NM_000081.4(LYST):c.8948-17dup
|
|
|
|
NM_000081.4(LYST):c.8948-19T>A
|
|
|
|
NM_000081.4(LYST):c.8949TGT[1] (p.Val2985del)
|
|
|
|
NM_000081.4(LYST):c.8955C>T (p.Val2985=)
|
|
|
|
NM_000081.4(LYST):c.8958A>G (p.Lys2986=)
|
|
|
|
NM_000081.4(LYST):c.8964A>G (p.Pro2988=)
|
|
|
|
NM_000081.4(LYST):c.8967C>T (p.Leu2989=)
|
|
|
|
NM_000081.4(LYST):c.8976G>A (p.Leu2992=)
|
|
|
|
NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)
|
|
|
|
NM_000081.4(LYST):c.8992C>T (p.His2998Tyr)
|
|
|
|
NM_000081.4(LYST):c.8997T>G (p.Ser2999=)
|
|
|
|
NM_000081.4(LYST):c.8C>A (p.Thr3Asn)
|
|
|
|
NM_000081.4(LYST):c.900C>T (p.Cys300=)
|
|
|
|
NM_000081.4(LYST):c.9011C>G (p.Thr3004Ser)
|
|
|
|
NM_000081.4(LYST):c.9015C>T (p.Val3005=)
|
|
|
|
NM_000081.4(LYST):c.901A>G (p.Ser301Gly)
|
|
|
|
NM_000081.4(LYST):c.9023A>G (p.Lys3008Arg)
|
|
|
|
NM_000081.4(LYST):c.9024A>G (p.Lys3008=)
|
|
|
|
NM_000081.4(LYST):c.9040A>G (p.Ile3014Val)
|
|
|
|
NM_000081.4(LYST):c.9042A>G (p.Ile3014Met)
|
|
|
|
NM_000081.4(LYST):c.9044+15A>G
|
|
|
|
NM_000081.4(LYST):c.9044+15A>T
|
|
|
|
NM_000081.4(LYST):c.9044+15del
|
|
|
|
NM_000081.4(LYST):c.9044+16T>C
|
|
|
|
NM_000081.4(LYST):c.9044+1G>A
|
|
|
|
NM_000081.4(LYST):c.9044+6T>C
|
|
|
|
NM_000081.4(LYST):c.9045-11T>C
|
|
|
|
NM_000081.4(LYST):c.9045-15A>T
|
|
|
|
NM_000081.4(LYST):c.9045-20T>C
|
|
|
|
NM_000081.4(LYST):c.9045-7T>C
|
|
|
|
NM_000081.4(LYST):c.9045-9T>C
|
|
|
|
NM_000081.4(LYST):c.904_905delinsAA (p.Leu302Lys)
|
|
|
|
NM_000081.4(LYST):c.9053G>A (p.Arg3018Gln)
|
|
|
|
NM_000081.4(LYST):c.9060C>T (p.Cys3020=)
|
|
|
|
NM_000081.4(LYST):c.9068T>G (p.Val3023Gly)
|
|
|
|
NM_000081.4(LYST):c.9081A>G (p.Arg3027=)
|
|
|
|
NM_000081.4(LYST):c.9084G>T (p.Glu3028Asp)
|
|
|
|
NM_000081.4(LYST):c.9097T>C (p.Leu3033=)
|
|
|
|
NM_000081.4(LYST):c.909C>T (p.Ser303=)
|
|
|
|
NM_000081.4(LYST):c.9106+10dup
|
|
|
|
NM_000081.4(LYST):c.9107-14A>T
|
|
|
|
NM_000081.4(LYST):c.9107-19A>T
|
|
|
|
NM_000081.4(LYST):c.9107-4G>T
|
|
|
|
NM_000081.4(LYST):c.9109A>G (p.Lys3037Glu)
|
|
|
|
NM_000081.4(LYST):c.910G>A (p.Asp304Asn)
|
|
|
|
NM_000081.4(LYST):c.9118A>G (p.Met3040Val)
|
|
|
|
NM_000081.4(LYST):c.9138T>G (p.Asn3046Lys)
|
|
|
|
NM_000081.4(LYST):c.9141T>C (p.Ala3047=)
|
|
|
|
NM_000081.4(LYST):c.9143del (p.Ser3048fs)
|
|
|
|
NM_000081.4(LYST):c.9159T>C (p.Ser3053=)
|
|
|
|
NM_000081.4(LYST):c.9162+11G>A
|
|
|
|
NM_000081.4(LYST):c.9162+11G>T
|
|
|
|
NM_000081.4(LYST):c.9162+15A>G
|
|
|
|
NM_000081.4(LYST):c.9162+20T>A
|
|
|
|
NM_000081.4(LYST):c.9162+3_9162+14del
|
|
|
|
NM_000081.4(LYST):c.9162+9del
|
|
|
|
NM_000081.4(LYST):c.9163-10T>C
|
|
|
|
NM_000081.4(LYST):c.9163-15A>C
|
|
|
|
NM_000081.4(LYST):c.9163-15A>G
|
|
|
|
NM_000081.4(LYST):c.9163-17C>G
|
|
|
|
NM_000081.4(LYST):c.9163-18C>T
|
|
|
|
NM_000081.4(LYST):c.9163-6del
|
|
|
|
NM_000081.4(LYST):c.9163A>T (p.Ser3055Cys)
|
|
|
|
NM_000081.4(LYST):c.9169C>A (p.Gln3057Lys)
|
|
|
|
NM_000081.4(LYST):c.916T>G (p.Leu306Val)
|
|
|
|
NM_000081.4(LYST):c.9171G>A (p.Gln3057=)
|
|
|
|
NM_000081.4(LYST):c.9180G>A (p.Leu3060=)
|
|
|
|
NM_000081.4(LYST):c.9185C>A (p.Pro3062Gln)
|
|
|
|
NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)
|
|
|
|
NM_000081.4(LYST):c.9204A>G (p.Thr3068=)
|
|
|
|
NM_000081.4(LYST):c.9208GAA[1] (p.Glu3071del)
|
|
|
|
NM_000081.4(LYST):c.9213A>G (p.Glu3071=)
|
|
|
|
NM_000081.4(LYST):c.9216T>C (p.Ile3072=)
|
|
|
|
NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)
|
|
|
|
NM_000081.4(LYST):c.9228C>T (p.His3076=)
|
|
|
|
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)
|
rs80338666
|
|
|
NM_000081.4(LYST):c.9232C>T (p.Arg3078Cys)
|
|
|
|
NM_000081.4(LYST):c.9233G>A (p.Arg3078His)
|
|
|
|
NM_000081.4(LYST):c.9239G>A (p.Trp3080Ter)
|
|
|
|
NM_000081.4(LYST):c.9244T>C (p.Leu3082=)
|
|
|
|
NM_000081.4(LYST):c.9245dup (p.Leu3082fs)
|
|
|
|
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
|
|
|
|
NM_000081.4(LYST):c.9267C>A (p.Ile3089=)
|
|
|
|
NM_000081.4(LYST):c.926G>A (p.Arg309Gln)
|
|
|
|
NM_000081.4(LYST):c.9273A>G (p.Leu3091=)
|
|
|
|
NM_000081.4(LYST):c.927A>G (p.Arg309=)
|
|
|
|
NM_000081.4(LYST):c.9288A>G (p.Thr3096=)
|
|
|
|
NM_000081.4(LYST):c.9292C>T (p.Leu3098=)
|
|
|
|
NM_000081.4(LYST):c.9300A>G (p.Ala3100=)
|
|
|
|
NM_000081.4(LYST):c.9315+10C>T
|
|
|
|
NM_000081.4(LYST):c.9315+11C>A
|
|
|
|
NM_000081.4(LYST):c.9315+12C>T
|
|
|
|
NM_000081.4(LYST):c.9315+20T>C
|
|
|
|
NM_000081.4(LYST):c.9315+3A>G
|
|
|
|
NM_000081.4(LYST):c.9315+8C>G
|
|
|
|
NM_000081.4(LYST):c.9315+8C>T
|
|
|
|
NM_000081.4(LYST):c.9315+9A>T
|
|
|
|
NM_000081.4(LYST):c.9316-18C>A
|
|
|
|
NM_000081.4(LYST):c.9316-19del
|
|
|
|
NM_000081.4(LYST):c.9316-5T>C
|
|
|
|
NM_000081.4(LYST):c.9316-9C>T
|
|
|
|
NM_000081.4(LYST):c.9318T>G (p.Val3106=)
|
|
|
|
NM_000081.4(LYST):c.9319C>A (p.Arg3107Ser)
|
|
|
|
NM_000081.4(LYST):c.9320G>A (p.Arg3107His)
|
|
|
|
NM_000081.4(LYST):c.9320G>T (p.Arg3107Leu)
|
|
|
|
NM_000081.4(LYST):c.9328G>A (p.Val3110Ile)
|
|
|
|
NM_000081.4(LYST):c.9330A>G (p.Val3110=)
|
|
|
|
NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)
|
|
|
|
NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)
|
|
|
|
NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)
|
|
|
|
NM_000081.4(LYST):c.9339T>C (p.Asn3113=)
|
|
|
|
NM_000081.4(LYST):c.9347C>A (p.Thr3116Lys)
|
|
|
|
NM_000081.4(LYST):c.9347C>T (p.Thr3116Ile)
|
|
|
|
NM_000081.4(LYST):c.934del (p.Ser312fs)
|
|
|
|
NM_000081.4(LYST):c.9350A>G (p.Asn3117Ser)
|
|
|
|
NM_000081.4(LYST):c.9357C>G (p.Leu3119=)
|
|
|
|
NM_000081.4(LYST):c.9361A>G (p.Asn3121Asp)
|
|
|
|
NM_000081.4(LYST):c.9369G>A (p.Leu3123=)
|
|
|
|
NM_000081.4(LYST):c.9377G>A (p.Gly3126Asp)
|
|
|
|
NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)
|
|
|
|
NM_000081.4(LYST):c.937G>A (p.Ala313Thr)
|
|
|
|
NM_000081.4(LYST):c.9381C>T (p.Asn3127=)
|
|
|
|
NM_000081.4(LYST):c.9387C>G (p.Thr3129=)
|
|
|
|
NM_000081.4(LYST):c.9387C>T (p.Thr3129=)
|
|
|
|
NM_000081.4(LYST):c.9400T>A (p.Leu3134Ile)
|
|
|
|
NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)
|
|
|
|
NM_000081.4(LYST):c.9413G>A (p.Gly3138Glu)
|
|
|
|
NM_000081.4(LYST):c.9414G>A (p.Gly3138=)
|
|
|
|
NM_000081.4(LYST):c.9414G>T (p.Gly3138=)
|
|
|
|
NM_000081.4(LYST):c.9415C>A (p.Gln3139Lys)
|
|
|
|
NM_000081.4(LYST):c.9434_9435dup (p.Leu3146fs)
|
|
|
|
NM_000081.4(LYST):c.9449del (p.Asn3150fs)
|
|
|
|
NM_000081.4(LYST):c.9450C>T (p.Asn3150=)
|
|
|
|
NM_000081.4(LYST):c.9454C>T (p.His3152Tyr)
|
|
|
|
NM_000081.4(LYST):c.9462C>G (p.Gly3154=)
|
|
|
|
NM_000081.4(LYST):c.9463C>T (p.Arg3155Ter)
|
|
|
|
NM_000081.4(LYST):c.9465A>G (p.Arg3155=)
|
|
|
|
NM_000081.4(LYST):c.9468C>T (p.Ser3156=)
|
rs1663290633
|
|
|
NM_000081.4(LYST):c.9475del (p.Asp3159fs)
|
|
|
|
NM_000081.4(LYST):c.9488A>G (p.Tyr3163Cys)
|
|
|
|
NM_000081.4(LYST):c.948C>A (p.Thr316=)
|
|
|
|
NM_000081.4(LYST):c.948C>G (p.Thr316=)
|
|
|
|
NM_000081.4(LYST):c.948C>T (p.Thr316=)
|
|
|
|
NM_000081.4(LYST):c.9492T>G (p.Pro3164=)
|
|
|
|
NM_000081.4(LYST):c.9495G>C (p.Val3165=)
|
|
|
|
NM_000081.4(LYST):c.9498C>G (p.Phe3166Leu)
|
|
|
|
NM_000081.4(LYST):c.9501A>G (p.Pro3167=)
|
|
|
|
NM_000081.4(LYST):c.9510T>A (p.Leu3170=)
|
|
|
|
NM_000081.4(LYST):c.9517T>C (p.Tyr3173His)
|
|
|
|
NM_000081.4(LYST):c.9519C>T (p.Tyr3173=)
|
|
|
|
NM_000081.4(LYST):c.9529A>C (p.Thr3177Pro)
|
|
|
|
NM_000081.4(LYST):c.9542A>G (p.Asn3181Ser)
|
|
|
|
NM_000081.4(LYST):c.9549G>A (p.Leu3183=)
|
|
|
|
NM_000081.4(LYST):c.955C>G (p.Pro319Ala)
|
|
|
|
NM_000081.4(LYST):c.9560+12G>C
|
|
|
|
NM_000081.4(LYST):c.9560+14A>G
|
|
|
|
NM_000081.4(LYST):c.9560+19C>T
|
|
|
|
NM_000081.4(LYST):c.9560+3A>G
|
|
|
|
NM_000081.4(LYST):c.9561-12C>G
|
|
|
|
NM_000081.4(LYST):c.9561-15G>T
|
|
|
|
NM_000081.4(LYST):c.9561-17T>G
|
|
|
|
NM_000081.4(LYST):c.9561-8T>G
|
|
|
|
NM_000081.4(LYST):c.9561-9T>C
|
|
|
|
NM_000081.4(LYST):c.956C>T (p.Pro319Leu)
|
|
|
|
NM_000081.4(LYST):c.957G>A (p.Pro319=)
|
|
|
|
NM_000081.4(LYST):c.957G>T (p.Pro319=)
|
|
|
|
NM_000081.4(LYST):c.9590A>G (p.Tyr3197Cys)
|
|
|
|
NM_000081.4(LYST):c.9590del (p.Tyr3197fs)
|
rs80338667
|
|
|
NM_000081.4(LYST):c.9600AGA[1] (p.Glu3201del)
|
|
|
|
NM_000081.4(LYST):c.9600del (p.Glu3201fs)
|
|
|
|
NM_000081.4(LYST):c.9608G>A (p.Arg3203His)
|
|
|
|
NM_000081.4(LYST):c.9612T>G (p.Tyr3204Ter)
|
|
|
|
NM_000081.4(LYST):c.9614T>G (p.Val3205Gly)
|
|
|
|
NM_000081.4(LYST):c.9617A>G (p.Asp3206Gly)
|
|
|
|
NM_000081.4(LYST):c.961G>T (p.Ala321Ser)
|
|
|
|
NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)
|
|
|
|
NM_000081.4(LYST):c.9621A>G (p.Thr3207=)
|
|
|
|
NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)
|
|
|
|
NM_000081.4(LYST):c.9624C>T (p.Tyr3208=)
|
|
|
|
NM_000081.4(LYST):c.9626del (p.Lys3209fs)
|
|
|
|
NM_000081.4(LYST):c.9627+10G>A
|
|
|
|
NM_000081.4(LYST):c.9627+11T>C
|
|
|
|
NM_000081.4(LYST):c.9627+13T>G
|
|
|
|
NM_000081.4(LYST):c.9627+17dup
|
|
|
|
NM_000081.4(LYST):c.9627+19C>T
|
|
|
|
NM_000081.4(LYST):c.9627+1G>A
|
|
|
|
NM_000081.4(LYST):c.9627+20G>A
|
|
|
|
NM_000081.4(LYST):c.9627+7T>C
|
|
|
|
NM_000081.4(LYST):c.9628-11G>A
|
|
|
|
NM_000081.4(LYST):c.9628-11G>T
|
|
|
|
NM_000081.4(LYST):c.9628-12C>G
|
|
|
|
NM_000081.4(LYST):c.9628-13C>T
|
|
|
|
NM_000081.4(LYST):c.9628-18A>G
|
|
|
|
NM_000081.4(LYST):c.9628-19G>T
|
|
|
|
NM_000081.4(LYST):c.9628-28_9628-20del
|
|
|
|
NM_000081.4(LYST):c.9628-3del
|
|
|
|
NM_000081.4(LYST):c.9628-7C>A
|
|
|
|
NM_000081.4(LYST):c.9628-8T>C
|
|
|
|
NM_000081.4(LYST):c.9635A>C (p.Glu3212Ala)
|
|
|
|
NM_000081.4(LYST):c.9636G>A (p.Glu3212=)
|
|
|
|
NM_000081.4(LYST):c.9639A>G (p.Glu3213=)
|
|
|
|
NM_000081.4(LYST):c.9646C>T (p.Arg3216Cys)
|
|
|
|
NM_000081.4(LYST):c.9647G>A (p.Arg3216His)
|
|
|
|
NM_000081.4(LYST):c.9650A>G (p.Lys3217Arg)
|
|
|
|
NM_000081.4(LYST):c.9653_9654delinsTT (p.Gly3218Val)
|
|
|
|
NM_000081.4(LYST):c.9658A>G (p.Arg3220Gly)
|
|
|
|
NM_000081.4(LYST):c.9666T>G (p.Asp3222Glu)
|
|
|
|
NM_000081.4(LYST):c.9667G>A (p.Asp3223Asn)
|
|
|
|
NM_000081.4(LYST):c.9669C>G (p.Asp3223Glu)
|
|
|
|
NM_000081.4(LYST):c.9670C>G (p.Pro3224Ala)
|
|
|
|
NM_000081.4(LYST):c.9681C>A (p.Pro3227=)
|
|
|
|
NM_000081.4(LYST):c.9681C>G (p.Pro3227=)
|
|
|
|
NM_000081.4(LYST):c.9681C>T (p.Pro3227=)
|
|
|
|
NM_000081.4(LYST):c.9682G>A (p.Val3228Met)
|
|
|
|
NM_000081.4(LYST):c.9690C>T (p.Pro3230=)
|
|
|
|
NM_000081.4(LYST):c.9694C>T (p.His3232Tyr)
|
|
|
|
NM_000081.4(LYST):c.9710A>G (p.Tyr3237Cys)
|
|
|
|
NM_000081.4(LYST):c.971A>G (p.Gln324Arg)
|
|
|
|
NM_000081.4(LYST):c.9721G>A (p.Gly3241Ser)
|
|
|
|
NM_000081.4(LYST):c.9723C>T (p.Gly3241=)
|
|
|
|
NM_000081.4(LYST):c.9731_9733del (p.Leu3244del)
|
|
|
|
NM_000081.4(LYST):c.9738C>T (p.Phe3246=)
|
|
|
|
NM_000081.4(LYST):c.973dup (p.Arg325fs)
|
|
|
|
NM_000081.4(LYST):c.9741G>C (p.Leu3247=)
|
|
|
|
NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)
|
|
|
|
NM_000081.4(LYST):c.9747G>A (p.Arg3249=)
|
|
|
|
NM_000081.4(LYST):c.9749T>C (p.Met3250Thr)
|
|
|
|
NM_000081.4(LYST):c.976A>G (p.Met326Val)
|
|
|
|
NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)
|
|
|
|
NM_000081.4(LYST):c.9777C>A (p.Ala3259=)
|
|
|
|
NM_000081.4(LYST):c.9784+10T>G
|
|
|
|
NM_000081.4(LYST):c.9784+11A>G
|
|
|
|
NM_000081.4(LYST):c.9784+15A>G
|
|
|
|
NM_000081.4(LYST):c.9784+16C>G
|
|
|
|
NM_000081.4(LYST):c.9784+17T>G
|
|
|
|
NM_000081.4(LYST):c.9784+1G>T
|
|
|
|
NM_000081.4(LYST):c.9784+5G>A
|
|
|
|
NM_000081.4(LYST):c.9785-11dup
|
|
|
|
NM_000081.4(LYST):c.9785-20T>G
|
|
|
|
NM_000081.4(LYST):c.9785-21_9785-17del
|
rs547173744
|
|
|
NM_000081.4(LYST):c.9785-4A>G
|
rs866556712
|
|
|
NM_000081.4(LYST):c.9785-5T>A
|
|
|
|
NM_000081.4(LYST):c.9785-5T>C
|
|
|
|
NM_000081.4(LYST):c.9801T>C (p.Ile3267=)
|
|
|
|
NM_000081.4(LYST):c.9802C>G (p.Pro3268Ala)
|
|
|
|
NM_000081.4(LYST):c.9806A>C (p.Asp3269Ala)
|
|
|
|
NM_000081.4(LYST):c.9811A>T (p.Thr3271Ser)
|
|
|
|
NM_000081.4(LYST):c.9812C>T (p.Thr3271Ile)
|
|
|
|
NM_000081.4(LYST):c.981C>A (p.Leu327=)
|
|
|
|
NM_000081.4(LYST):c.9821C>G (p.Ser3274Cys)
|
|
|
|
NM_000081.4(LYST):c.9822T>C (p.Ser3274=)
|
|
|
|
NM_000081.4(LYST):c.9823A>G (p.Thr3275Ala)
|
|
|
|
NM_000081.4(LYST):c.9825A>C (p.Thr3275=)
|
|
|
|
NM_000081.4(LYST):c.9825A>G (p.Thr3275=)
|
|
|
|
NM_000081.4(LYST):c.9826A>G (p.Asn3276Asp)
|
|
|
|
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
|
|
|
|
NM_000081.4(LYST):c.9835T>G (p.Trp3279Gly)
|
|
|
|
NM_000081.4(LYST):c.9838C>A (p.Arg3280=)
|
|
|
|
NM_000081.4(LYST):c.9838C>T (p.Arg3280Ter)
|
|
|
|
NM_000081.4(LYST):c.9839G>A (p.Arg3280Gln)
|
|
|
|
NM_000081.4(LYST):c.9843C>T (p.Leu3281=)
|
|
|
|
NM_000081.4(LYST):c.9846A>C (p.Ser3282=)
|
|
|
|
NM_000081.4(LYST):c.9853G>A (p.Glu3285Lys)
|
|
|
|
NM_000081.4(LYST):c.985C>T (p.Arg329Ter)
|
|
|
|
NM_000081.4(LYST):c.9868G>A (p.Val3290Met)
|
|
|
|
NM_000081.4(LYST):c.986G>A (p.Arg329Gln)
|
|
|
|
NM_000081.4(LYST):c.9873A>G (p.Lys3291=)
|
|
|
|
NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)
|
|
|
|
NM_000081.4(LYST):c.9891T>C (p.Phe3297=)
|
|
|
|
NM_000081.4(LYST):c.9893del (p.Phe3298fs)
|
rs80338668
|
|
|
NM_000081.4(LYST):c.9896A>G (p.Tyr3299Cys)
|
|
|
|
NM_000081.4(LYST):c.989C>G (p.Thr330Arg)
|
|
|
|
NM_000081.4(LYST):c.98A>G (p.Glu33Gly)
|
|
|
|
NM_000081.4(LYST):c.98_105del (p.Glu33fs)
|
|
|
|
NM_000081.4(LYST):c.9900T>C (p.Leu3300=)
|
|
|
|
NM_000081.4(LYST):c.9906G>A (p.Glu3302=)
|
|
|
|
NM_000081.4(LYST):c.990A>G (p.Thr330=)
|
|
|
|
NM_000081.4(LYST):c.9919C>T (p.Arg3307Cys)
|
|
|
|
NM_000081.4(LYST):c.9920G>A (p.Arg3307His)
|
|
|
|
NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)
|
|
|
|
NM_000081.4(LYST):c.9925+10T>G
|
|
|
|
NM_000081.4(LYST):c.9925+14T>G
|
|
|
|
NM_000081.4(LYST):c.9925+15T>C
|
|
|
|
NM_000081.4(LYST):c.9925+1G>T
|
|
|
|
NM_000081.4(LYST):c.9925+2T>C
|
|
|
|
NM_000081.4(LYST):c.9925+3A>G
|
|
|
|
NM_000081.4(LYST):c.9925+6G>A
|
|
|
|
NM_000081.4(LYST):c.9925+9A>G
|
|
|
|
NM_000081.4(LYST):c.9926-11T>A
|
|
|
|
NM_000081.4(LYST):c.9926-16T>C
|
|
|
|
NM_000081.4(LYST):c.9926-17T>C
|
|
|
|
NM_000081.4(LYST):c.9926-8T>G
|
|
|
|
NM_000081.4(LYST):c.9930T>C (p.Phe3310=)
|
|
|
|
NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)
|
|
|
|
NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)
|
|
|
|
NM_000081.4(LYST):c.9942G>C (p.Val3314=)
|
|
|
|
NM_000081.4(LYST):c.9943C>T (p.Arg3315Cys)
|
|
|
|
NM_000081.4(LYST):c.9944G>A (p.Arg3315His)
|
|
|
|
NM_000081.4(LYST):c.9960G>C (p.Arg3320=)
|
|
|
|
NM_000081.4(LYST):c.9961dup (p.Val3321fs)
|
|
|
|
NM_000081.4(LYST):c.9969C>T (p.His3323=)
|
|
|
|
NM_000081.4(LYST):c.9970G>A (p.Val3324Ile)
|
|
|
|
NM_000081.4(LYST):c.9972C>T (p.Val3324=)
|
|
|
|
NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)
|
|
|
|
NM_000081.4(LYST):c.9976C>A (p.Leu3326Ile)
|
|
|
|
NM_000081.4(LYST):c.997C>A (p.His333Asn)
|
|
|
|
NM_000081.4(LYST):c.9984T>G (p.Pro3328=)
|
|
|
|
NM_000081.4(LYST):c.9988del (p.Ala3330fs)
|
|
|
|
NM_000081.4(LYST):c.9990G>A (p.Ala3330=)
|
|
|
|
NM_000081.4(LYST):c.9990G>C (p.Ala3330=)
|
|
|
|
NM_000081.4(LYST):c.9991C>T (p.Arg3331Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.*165T>A
|
rs2068620449
|
|
|
NM_000116.5(TAFAZZIN):c.*387C>T
|
rs1057515819
|
|
|
NM_000116.5(TAFAZZIN):c.*470=
|
rs743547
|
|
|
NM_000116.5(TAFAZZIN):c.*648A>C
|
rs1413243483
|
|
|
NM_000116.5(TAFAZZIN):c.100T>A (p.Phe34Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.102C>T (p.Phe34=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+15del
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+20G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>A
|
rs2148185111
|
|
|
NM_000116.5(TAFAZZIN):c.109+5G>C
|
rs2148185111
|
|
|
NM_000116.5(TAFAZZIN):c.109+8G>A
|
rs2068315794
|
|
|
NM_000116.5(TAFAZZIN):c.110-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-19A>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-20G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
|
NM_000116.5(TAFAZZIN):c.113A>G (p.Tyr38Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.117G>A (p.Met39Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)
|
|
|
|
NM_000116.5(TAFAZZIN):c.127A>T (p.Thr43Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>A (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129C>G (p.Thr43=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs)
|
rs2148186224
|
|
|
NM_000116.5(TAFAZZIN):c.132G>A (p.Val44=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.138C>T (p.Asn46=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.145G>C (p.Val49Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)
|
rs104894941
|
|
|
NM_000116.5(TAFAZZIN):c.154G>C (p.Glu52Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.162C>G (p.Ile54Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.179C>T (p.Ala60Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.182C>T (p.Thr61Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.184C>T (p.Pro62Ser)
|
rs2068328744
|
|
|
NM_000116.5(TAFAZZIN):c.186C>G (p.Pro62=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.189C>T (p.Leu63=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.18G>T (p.Lys6Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.190A>C (p.Ile64Leu)
|
rs1322365208
|
|
|
NM_000116.5(TAFAZZIN):c.1A>G (p.Met1Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.205C>A (p.His69Asn)
|
rs2068329796
|
|
|
NM_000116.5(TAFAZZIN):c.208C>T (p.Gln70Ter)
|
rs397515738
|
|
|
NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
|
rs2068330347
|
|
|
NM_000116.5(TAFAZZIN):c.215G>T (p.Cys72Phe)
|
|
|
|
NM_000116.5(TAFAZZIN):c.216C>T (p.Cys72=)
|
rs1557191148
|
|
|
NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.222C>G (p.Asp74Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.227C>G (p.Pro76Arg)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.227C>T (p.Pro76Leu)
|
rs878853654
|
|
|
NM_000116.5(TAFAZZIN):c.228T>G (p.Pro76=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.230A>G (p.His77Arg)
|
rs794729173
|
|
|
NM_000116.5(TAFAZZIN):c.233T>A (p.Leu78His)
|
|
|
|
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.236_238+5del
|
rs2068331233
|
|
|
NM_000116.5(TAFAZZIN):c.238+10C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+2T>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+2_238+9del
|
rs1603376938
|
|
|
NM_000116.5(TAFAZZIN):c.238+6C>T
|
rs781786197
|
|
|
NM_000116.5(TAFAZZIN):c.238+7G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.238+9G>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg)
|
rs1557191170
|
|
|
NM_000116.5(TAFAZZIN):c.239-11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-1G>A
|
rs1603377590
|
|
|
NM_000116.5(TAFAZZIN):c.239-1G>C
|
rs1603377590
|
|
|
NM_000116.5(TAFAZZIN):c.239-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.239-6del
|
rs1064794479
|
|
|
NM_000116.5(TAFAZZIN):c.239-7C>T
|
rs2148190472
|
|
|
NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.24G>T (p.Pro8=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.250C>T (p.Leu84Phe)
|
|
|
|
NM_000116.5(TAFAZZIN):c.252C>T (p.Leu84=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.255C>T (p.Arg85=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.258C>T (p.His86=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.267C>T (p.Asn89=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.273G>A (p.Lys91=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)
|
rs104894942
|
|
|
NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)
|
|
|
|
NM_000116.5(TAFAZZIN):c.280C>T (p.Arg94Cys)
|
rs104894942
|
|
|
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu)
|
rs1060500044
|
|
|
NM_000116.5(TAFAZZIN):c.284+110G>A
|
rs1603377747
|
|
|
NM_000116.5(TAFAZZIN):c.284+17C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+3G>C
|
rs1569552708
|
|
|
NM_000116.5(TAFAZZIN):c.284+4A>T
|
rs1603377638
|
|
|
NM_000116.5(TAFAZZIN):c.284+5G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.284+8_284+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.285-5C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.28C>T (p.Pro10Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer)
|
rs2148191858
|
|
|
NM_000116.5(TAFAZZIN):c.294A>T (p.Ala98=)
|
rs2148191873
|
|
|
NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)
|
|
|
|
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val)
|
rs1569552722
|
|
|
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg)
|
rs781941217
|
|
|
NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.307T>C (p.Cys103Arg)
|
rs397515740
|
|
|
NM_000116.5(TAFAZZIN):c.308G>A (p.Cys103Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.30C>T (p.Pro10=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu)
|
rs397515741
|
|
|
NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.314C>T (p.Thr105Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>A (p.Leu108Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.322C>T (p.Leu108=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.327C>T (p.His109=)
|
rs1569552726
|
|
|
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro)
|
rs397515739
|
|
|
NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)
|
|
|
|
NM_000116.5(TAFAZZIN):c.334T>C (p.Phe112Leu)
|
rs1281729528
|
|
|
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)
|
rs727504327
|
|
|
NM_000116.5(TAFAZZIN):c.348C>G (p.Gly116=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
|
NM_000116.5(TAFAZZIN):c.360T>C (p.Pro120=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter)
|
rs1569552731
|
|
|
NM_000116.5(TAFAZZIN):c.368G>C (p.Arg123Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+11C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+16A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+18C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+19G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370+2T>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)
|
rs1603377945
|
|
|
NM_000116.5(TAFAZZIN):c.371-13C>G
|
rs397515742
|
|
|
NM_000116.5(TAFAZZIN):c.371-17T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-19A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.371-4G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.371G>A (p.Gly124Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.379T>G (p.Phe127Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.380T>G (p.Phe127Cys)
|
rs2068411768
|
|
|
NM_000116.5(TAFAZZIN):c.385C>T (p.Gln129Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.394A>T (p.Asn132Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.39G>T (p.Pro13=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.3G>A (p.Met1Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.409G>A (p.Val137Ile)
|
rs2068412679
|
|
|
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.416A>T (p.Asp139Val)
|
rs1603378339
|
|
|
NM_000116.5(TAFAZZIN):c.425_428del (p.Arg142fs)
|
rs782253789
|
|
|
NM_000116.5(TAFAZZIN):c.429C>G (p.His143Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.42G>T (p.Pro14=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.45C>T (p.Leu15=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+10G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.460+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.460G>A (p.Gly154Arg)
|
rs2068414496
|
|
|
NM_000116.5(TAFAZZIN):c.461-10_461-5del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-13C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-14C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-19A>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-22_461-14del
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-2A>G
|
rs876661038
|
|
|
NM_000116.5(TAFAZZIN):c.461-3C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.461-7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.47C>G (p.Thr16Ser)
|
rs1227132566
|
|
|
NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.483G>A (p.Gly161=)
|
rs2148210856
|
|
|
NM_000116.5(TAFAZZIN):c.496T>C (p.Leu166=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.49T>C (p.Trp17Arg)
|
rs2068313278
|
|
|
NM_000116.5(TAFAZZIN):c.504G>A (p.Lys168=)
|
rs1057515818
|
|
|
NM_000116.5(TAFAZZIN):c.510C>T (p.Asn170=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.517G>A (p.Asp173Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.51G>T (p.Trp17Cys)
|
rs1603376560
|
|
|
NM_000116.5(TAFAZZIN):c.524T>G (p.Val175Gly)
|
|
|
|
NM_000116.5(TAFAZZIN):c.528_541+7del
|
rs2068570435
|
|
|
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)
|
|
|
|
NM_000116.5(TAFAZZIN):c.534C>T (p.Phe178=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.53C>T (p.Thr18Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+10G>A
|
rs1396794207
|
|
|
NM_000116.5(TAFAZZIN):c.541+13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+13_541+28del
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+1G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+20_541+40dup
|
|
|
|
NM_000116.5(TAFAZZIN):c.541+5G>A
|
rs2068571041
|
|
|
NM_000116.5(TAFAZZIN):c.541+8G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.541G>A (p.Gly181Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-2A>G
|
rs2068574381
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>G
|
rs781795144
|
|
|
NM_000116.5(TAFAZZIN):c.542-3C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542-6C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.542G>A (p.Gly181Glu)
|
rs2068574531
|
|
|
NM_000116.5(TAFAZZIN):c.549G>T (p.Val183=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.552C>T (p.Asn184=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.561C>T (p.Ser187=)
|
rs36005334
|
|
|
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.572G>C (p.Arg191Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.578A>T (p.Lys193Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.579G>A (p.Lys193=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.580_583+10del
|
|
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
|
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter)
|
rs794729167
|
|
|
NM_000116.5(TAFAZZIN):c.583+5G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.583G>A (p.Gly195Arg)
|
rs878853656
|
|
|
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter)
|
rs878853656
|
|
|
NM_000116.5(TAFAZZIN):c.584-11C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-15C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-1G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>A
|
rs2068583124
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.584-9C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.584G>A (p.Gly195Glu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.588C>T (p.Ile196=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
|
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu)
|
rs397515746
|
|
|
NM_000116.5(TAFAZZIN):c.594C>A (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>G (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=)
|
rs797040235
|
|
|
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)
|
rs1603381671
|
|
|
NM_000116.5(TAFAZZIN):c.608G>A (p.Cys203Tyr)
|
|
|
|
NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.611A>G (p.His204Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.613C>A (p.Leu205Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)
|
|
|
|
NM_000116.5(TAFAZZIN):c.628C>T (p.Leu210=)
|
rs782162647
|
|
|
NM_000116.5(TAFAZZIN):c.632C>A (p.Pro211His)
|
rs2148212627
|
|
|
NM_000116.5(TAFAZZIN):c.633C>T (p.Pro211=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)
|
rs2148212610
|
|
|
NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.642T>C (p.His214=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.645C>T (p.Val215=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+12G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+12del
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+13A>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+15G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+18G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+20C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+7C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.646+8T>C
|
|
|
|
NM_000116.5(TAFAZZIN):c.646G>A (p.Gly216Arg)
|
rs1085307797
|
|
|
NM_000116.5(TAFAZZIN):c.647-14C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.647-1G>C
|
rs587776741
|
|
|
NM_000116.5(TAFAZZIN):c.647-6C>T
|
rs901353067
|
|
|
NM_000116.5(TAFAZZIN):c.647G>A (p.Gly216Glu)
|
rs727504431
|
|
|
NM_000116.5(TAFAZZIN):c.647G>T (p.Gly216Val)
|
rs727504431
|
|
|
NM_000116.5(TAFAZZIN):c.657C>G (p.Asp219Glu)
|
rs140751478
|
|
|
NM_000116.5(TAFAZZIN):c.658G>A (p.Val220Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.678C>T (p.Pro226=)
|
rs1603381820
|
|
|
NM_000116.5(TAFAZZIN):c.682T>C (p.Phe228Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.684C>T (p.Phe228=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.687C>T (p.Pro229=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.688C>T (p.Arg230Cys)
|
|
|
|
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs)
|
rs1569552936
|
|
|
NM_000116.5(TAFAZZIN):c.690C>A (p.Arg230=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter)
|
rs1603381860
|
|
|
NM_000116.5(TAFAZZIN):c.699+15C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+17G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+1G>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.699+6T>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.69C>G (p.Val23=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-13G>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-14C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-19C>G
|
|
|
|
NM_000116.5(TAFAZZIN):c.700-1G>A
|
rs397515747
|
|
|
NM_000116.5(TAFAZZIN):c.700-1del
|
|
|
|
NM_000116.5(TAFAZZIN):c.702A>G (p.Lys234=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.705C>A (p.Ile235=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.705C>G (p.Ile235Met)
|
|
|
|
NM_000116.5(TAFAZZIN):c.707C>T (p.Thr236Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs)
|
rs727504394
|
|
|
NM_000116.5(TAFAZZIN):c.711G>C (p.Val237=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
|
NM_000116.5(TAFAZZIN):c.723G>A (p.Lys241=)
|
rs2148214484
|
|
|
NM_000116.5(TAFAZZIN):c.725C>T (p.Pro242Leu)
|
|
|
|
NM_000116.5(TAFAZZIN):c.727T>A (p.Phe243Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.735C>T (p.Ala245=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.745C>A (p.Leu249Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.747C>G (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=)
|
rs376379156
|
|
|
NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)
|
|
|
|
NM_000116.5(TAFAZZIN):c.751C>G (p.Arg251Gly)
|
rs372689133
|
|
|
NM_000116.5(TAFAZZIN):c.752G>A (p.Arg251Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.754_763del (p.Leu252fs)
|
rs1557194381
|
|
|
NM_000116.5(TAFAZZIN):c.757C>T (p.Arg253Trp)
|
rs2068605582
|
|
|
NM_000116.5(TAFAZZIN):c.759G>A (p.Arg253=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.773C>A (p.Ser258Ter)
|
rs2068606445
|
|
|
NM_000116.5(TAFAZZIN):c.773C>T (p.Ser258Leu)
|
rs2068606445
|
|
|
NM_000116.5(TAFAZZIN):c.776C>T (p.Ala259Val)
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+19C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
|
NM_000116.5(TAFAZZIN):c.777+20C>T
|
|
|
|
NM_000116.5(TAFAZZIN):c.777+3G>A
|
rs2068606988
|
|
|
NM_000116.5(TAFAZZIN):c.777+6T>C
|
rs782175712
|
|
|
NM_000116.5(TAFAZZIN):c.778-2A>G
|
rs876661112
|
|
|
NM_000116.5(TAFAZZIN):c.778-63_778-51del
|
rs782249471
|
|
|
NM_000116.5(TAFAZZIN):c.778-6C>A
|
|
|
|
NM_000116.5(TAFAZZIN):c.778-8del
|
|
|
|
NM_000116.5(TAFAZZIN):c.788G>A (p.Arg263Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu)
|
rs1557194488
|
|
|
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met)
|
rs1557194504
|
|
|
NM_000116.5(TAFAZZIN):c.801G>T (p.Thr267=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter)
|
rs1298362744
|
|
|
NM_000116.5(TAFAZZIN):c.812A>C (p.Gln271Pro)
|
|
|
|
NM_000116.5(TAFAZZIN):c.813A>G (p.Gln271=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.816G>A (p.Glu272=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter)
|
rs397515750
|
|
|
NM_000116.5(TAFAZZIN):c.836C>T (p.Thr279Ile)
|
|
|
|
NM_000116.5(TAFAZZIN):c.836del (p.Thr279fs)
|
rs1557194525
|
|
|
NM_000116.5(TAFAZZIN):c.843_850del (p.Glu282fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.846G>A (p.Glu282=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.849G>C (p.Gln283His)
|
rs1025920600
|
|
|
NM_000116.5(TAFAZZIN):c.855C>A (p.His285Gln)
|
|
|
|
NM_000116.5(TAFAZZIN):c.85G>C (p.Gly29Arg)
|
|
|
|
NM_000116.5(TAFAZZIN):c.864C>G (p.Leu288=)
|
rs1603382441
|
|
|
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
|
|
|
|
NM_000116.5(TAFAZZIN):c.89C>T (p.Thr30Ile)
|
rs2068315101
|
|
|
NM_000116.5(TAFAZZIN):c.90C>T (p.Thr30=)
|
|
|
|
NM_000116.5(TAFAZZIN):c.92A>G (p.Tyr31Cys)
|
|
|
|
NM_000116.5(TAZ):c.-119=
|
|
|
|
NM_000377.3(WAS):c.-37_132+35del
|
rs1602176146
|
|
|
NM_000377.3(WAS):c.1001G>A (p.Gly334Asp)
|
|
|
|
NM_000377.3(WAS):c.1001del (p.Gly334fs)
|
rs1569494025
|
|
|
NM_000377.3(WAS):c.1001dup (p.Gly334_Asn335insTer)
|
rs1569494025
|
|
|
NM_000377.3(WAS):c.1009G>A (p.Gly337Ser)
|
|
|
|
NM_000377.3(WAS):c.100C>T (p.Arg34Ter)
|
rs132630271
|
|
|
NM_000377.3(WAS):c.1021_1022insT (p.Pro341fs)
|
rs2147266379
|
|
|
NM_000377.3(WAS):c.1022C>T (p.Pro341Leu)
|
|
|
|
NM_000377.3(WAS):c.1026G>A (p.Leu342=)
|
|
|
|
NM_000377.3(WAS):c.1028C>T (p.Pro343Leu)
|
|
|
|
NM_000377.3(WAS):c.1032T>G (p.Pro344=)
|
|
|
|
NM_000377.3(WAS):c.1038T>G (p.Pro346=)
|
|
|
|
NM_000377.3(WAS):c.1039T>C (p.Leu347=)
|
|
|
|
NM_000377.3(WAS):c.1040dup (p.Leu347fs)
|
|
|
|
NM_000377.3(WAS):c.1053A>C (p.Pro351=)
|
|
|
|
NM_000377.3(WAS):c.1056C>T (p.Pro352=)
|
|
|
|
NM_000377.3(WAS):c.1057CCA[1] (p.Pro354del)
|
rs1569494034
|
|
|
NM_000377.3(WAS):c.1058del (p.Pro353fs)
|
rs1557007165
|
|
|
NM_000377.3(WAS):c.1058dup (p.Pro354fs)
|
rs1557007165
|
|
|
NM_000377.3(WAS):c.1059A>C (p.Pro353=)
|
|
|
|
NM_000377.3(WAS):c.1062A>C (p.Pro354=)
|
|
|
|
NM_000377.3(WAS):c.1067C>A (p.Pro356His)
|
|
|
|
NM_000377.3(WAS):c.1068C>T (p.Pro356=)
|
|
|
|
NM_000377.3(WAS):c.1073G>A (p.Gly358Glu)
|
rs267606468
|
|
|
NM_000377.3(WAS):c.1073dup (p.Pro359fs)
|
|
|
|
NM_000377.3(WAS):c.1074A>C (p.Gly358=)
|
|
|
|
NM_000377.3(WAS):c.1075C>T (p.Pro359Ser)
|
rs2062428888
|
|
|
NM_000377.3(WAS):c.1080A>C (p.Pro360=)
|
rs1409607754
|
|
|
NM_000377.3(WAS):c.1084C>A (p.Pro362Thr)
|
rs2147266477
|
|
|
NM_000377.3(WAS):c.1085del (p.Pro362fs)
|
rs2147266474
|
|
|
NM_000377.3(WAS):c.1086A>C (p.Pro362=)
|
|
|
|
NM_000377.3(WAS):c.1086A>G (p.Pro362=)
|
rs1304836055
|
|
|
NM_000377.3(WAS):c.1090C>T (p.Arg364Ter)
|
rs2062429013
|
|
|
NM_000377.3(WAS):c.1092A>C (p.Arg364=)
|
|
|
|
NM_000377.3(WAS):c.1101T>C (p.Pro367=)
|
|
|
|
NM_000377.3(WAS):c.1101T>G (p.Pro367=)
|
|
|
|
NM_000377.3(WAS):c.1104A>C (p.Pro368=)
|
|
|
|
NM_000377.3(WAS):c.1107A>C (p.Pro369=)
|
|
|
|
NM_000377.3(WAS):c.1107A>G (p.Pro369=)
|
|
|
|
NM_000377.3(WAS):c.1113C>T (p.Pro371=)
|
|
|
|
NM_000377.3(WAS):c.1116T>A (p.Pro372=)
|
|
|
|
NM_000377.3(WAS):c.1116T>C (p.Pro372=)
|
|
|
|
NM_000377.3(WAS):c.1119A>C (p.Pro373=)
|
|
|
|
NM_000377.3(WAS):c.1122T>C (p.Ala374=)
|
|
|
|
NM_000377.3(WAS):c.1122T>G (p.Ala374=)
|
|
|
|
NM_000377.3(WAS):c.1125T>A (p.Thr375=)
|
|
|
|
NM_000377.3(WAS):c.1125T>G (p.Thr375=)
|
|
|
|
NM_000377.3(WAS):c.1128A>G (p.Gly376=)
|
|
|
|
NM_000377.3(WAS):c.1131T>G (p.Arg377=)
|
|
|
|
NM_000377.3(WAS):c.1134T>G (p.Ser378=)
|
|
|
|
NM_000377.3(WAS):c.1135G>A (p.Gly379Arg)
|
|
|
|
NM_000377.3(WAS):c.1140A>C (p.Pro380=)
|
|
|
|
NM_000377.3(WAS):c.1148C>T (p.Pro383Leu)
|
|
|
|
NM_000377.3(WAS):c.1155C>T (p.Pro385=)
|
|
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
|
NM_000377.3(WAS):c.1166G>A (p.Gly389Asp)
|
|
|
|
NM_000377.3(WAS):c.1174C>A (p.Pro392Thr)
|
rs1043747875
|
|
|
NM_000377.3(WAS):c.1179_1187dup (p.Pro404_Ser405insProProPro)
|
|
|
|
NM_000377.3(WAS):c.1188ACCGCCACC[1] (p.Pro402_Pro404del)
|
rs193922412
|
|
|
NM_000377.3(WAS):c.1188ACCGCCACC[3] (p.Pro404_Ser405insProProPro)
|
|
|
|
NM_000377.3(WAS):c.1196C>G (p.Pro399Arg)
|
rs1602179582
|
|
|
NM_000377.3(WAS):c.1197A>G (p.Pro399=)
|
rs1602179584
|
|
|
NM_000377.3(WAS):c.1199C>T (p.Pro400Leu)
|
rs782596670
|
|
|
NM_000377.3(WAS):c.11del (p.Gly4fs)
|
rs587776745
|
|
|
NM_000377.3(WAS):c.1203_1211dup (p.Pro402_Pro404dup)
|
rs2062430236
|
|
|
NM_000377.3(WAS):c.1203del (p.Pro402fs)
|
|
|
|
NM_000377.3(WAS):c.1206G>A (p.Pro402=)
|
|
|
|
NM_000377.3(WAS):c.1209G>A (p.Pro403=)
|
|
|
|
NM_000377.3(WAS):c.121C>T (p.Arg41Ter)
|
rs11545907
|
|
|
NM_000377.3(WAS):c.1221del (p.Asn408fs)
|
|
|
|
NM_000377.3(WAS):c.1229C>G (p.Pro410Arg)
|
|
|
|
NM_000377.3(WAS):c.1244T>C (p.Leu415Pro)
|
|
|
|
NM_000377.3(WAS):c.1247C>T (p.Pro416Leu)
|
|
|
|
NM_000377.3(WAS):c.1252G>A (p.Ala418Thr)
|
rs782784813
|
|
|
NM_000377.3(WAS):c.1263T>A (p.Pro421=)
|
|
|
|
NM_000377.3(WAS):c.1266del (p.Gly424fs)
|
|
|
|
NM_000377.3(WAS):c.1267G>A (p.Gly423Arg)
|
|
|
|
NM_000377.3(WAS):c.1271del (p.Gly424fs)
|
|
|
|
NM_000377.3(WAS):c.1271dup (p.Leu425fs)
|
rs1557007312
|
|
|
NM_000377.3(WAS):c.1272C>T (p.Gly424=)
|
|
|
|
NM_000377.3(WAS):c.1272_1277delinsGCCTGG (p.Leu425_Ala426delinsProGly)
|
rs2062430786
|
|
|
NM_000377.3(WAS):c.1274T>C (p.Leu425Pro)
|
|
|
|
NM_000377.3(WAS):c.1291C>T (p.Arg431Trp)
|
|
|
|
NM_000377.3(WAS):c.1293G>A (p.Arg431=)
|
|
|
|
NM_000377.3(WAS):c.1299G>T (p.Ala433=)
|
|
|
|
NM_000377.3(WAS):c.130T>G (p.Leu44Val)
|
|
|
|
NM_000377.3(WAS):c.1310A>C (p.Gln437Pro)
|
rs2062431125
|
|
|
NM_000377.3(WAS):c.1316G>C (p.Arg439Pro)
|
rs2062431180
|
|
|
NM_000377.3(WAS):c.1318C>A (p.Gln440Lys)
|
|
|
|
NM_000377.3(WAS):c.1318C>T (p.Gln440Ter)
|
|
|
|
NM_000377.3(WAS):c.132+14C>G
|
|
|
|
NM_000377.3(WAS):c.1320G>A (p.Gln440=)
|
|
|
|
NM_000377.3(WAS):c.133-15G>A
|
|
|
|
NM_000377.3(WAS):c.133-19C>G
|
|
|
|
NM_000377.3(WAS):c.133-19C>T
|
|
|
|
NM_000377.3(WAS):c.133-5C>T
|
|
|
|
NM_000377.3(WAS):c.1335C>T (p.Asn445=)
|
|
|
|
NM_000377.3(WAS):c.1338+13A>G
|
|
|
|
NM_000377.3(WAS):c.1338+13A>T
|
|
|
|
NM_000377.3(WAS):c.1338+9A>C
|
|
|
|
NM_000377.3(WAS):c.1339-2A>G
|
rs2147267240
|
|
|
NM_000377.3(WAS):c.1339-6C>G
|
rs1207805593
|
|
|
NM_000377.3(WAS):c.1341C>A (p.Thr447=)
|
|
|
|
NM_000377.3(WAS):c.1342C>T (p.Pro448Ser)
|
|
|
|
NM_000377.3(WAS):c.134C>T (p.Thr45Met)
|
rs132630273
|
|
|
NM_000377.3(WAS):c.135G>A (p.Thr45=)
|
|
|
|
NM_000377.3(WAS):c.135G>T (p.Thr45=)
|
|
|
|
NM_000377.3(WAS):c.1366C>T (p.Leu456=)
|
|
|
|
NM_000377.3(WAS):c.136C>T (p.Leu46=)
|
|
|
|
NM_000377.3(WAS):c.1379C>G (p.Pro460Arg)
|
rs782489472
|
|
|
NM_000377.3(WAS):c.138G>A (p.Leu46=)
|
|
|
|
NM_000377.3(WAS):c.1391A>G (p.Glu464Gly)
|
rs2062432588
|
|
|
NM_000377.3(WAS):c.1417G>A (p.Val473Met)
|
|
|
|
NM_000377.3(WAS):c.141C>T (p.Ala47=)
|
rs1602176588
|
|
|
NM_000377.3(WAS):c.142A>C (p.Thr48Pro)
|
rs2062412197
|
|
|
NM_000377.3(WAS):c.1440C>T (p.Ala480=)
|
|
|
|
NM_000377.3(WAS):c.1453+12C>T
|
|
|
|
NM_000377.3(WAS):c.1453+17G>A
|
|
|
|
NM_000377.3(WAS):c.1453+20G>C
|
|
|
|
NM_000377.3(WAS):c.1453+2T>G
|
rs2147267350
|
|
|
NM_000377.3(WAS):c.1453+6C>G
|
|
|
|
NM_000377.3(WAS):c.1453+9A>C
|
|
|
|
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn)
|
rs1064793293
|
|
|
NM_000377.3(WAS):c.1454-11T>C
|
|
|
|
NM_000377.3(WAS):c.1454-12C>A
|
|
|
|
NM_000377.3(WAS):c.1454-12C>T
|
|
|
|
NM_000377.3(WAS):c.1454-5T>C
|
|
|
|
NM_000377.3(WAS):c.1454-6C>T
|
|
|
|
NM_000377.3(WAS):c.1454-7C>T
|
|
|
|
NM_000377.3(WAS):c.1456G>A (p.Glu486Lys)
|
rs2062438405
|
|
|
NM_000377.3(WAS):c.1458A>C (p.Glu486Asp)
|
rs975384814
|
|
|
NM_000377.3(WAS):c.1467C>T (p.Asp489=)
|
|
|
|
NM_000377.3(WAS):c.1471G>A (p.Ala491Thr)
|
|
|
|
NM_000377.3(WAS):c.1473T>C (p.Ala491=)
|
|
|
|
NM_000377.3(WAS):c.1476C>A (p.Gly492=)
|
|
|
|
NM_000377.3(WAS):c.1482AGATGA[1] (p.494ED[1])
|
rs1569494232
|
|
|
NM_000377.3(WAS):c.1487A>C (p.Glu496Ala)
|
rs2147268585
|
|
|
NM_000377.3(WAS):c.1494T>C (p.Asp498=)
|
|
|
|
NM_000377.3(WAS):c.149T>A (p.Val50Asp)
|
rs2147262772
|
|
|
NM_000377.3(WAS):c.1506C>T (p.Asp502=)
|
|
|
|
NM_000377.3(WAS):c.1507_1508dup (p.Ter503CysextTer?)
|
rs2147268618
|
|
|
NM_000377.3(WAS):c.1508G>A (p.Ter503=)
|
|
|
|
NM_000377.3(WAS):c.1508G>C (p.Ter503Ser)
|
|
|
|
NM_000377.3(WAS):c.1509A>G (p.Ter503Trp)
|
|
|
|
NM_000377.3(WAS):c.150T>A (p.Val50=)
|
|
|
|
NM_000377.3(WAS):c.156G>C (p.Gln52His)
|
|
|
|
NM_000377.3(WAS):c.159G>A (p.Leu53=)
|
|
|
|
NM_000377.3(WAS):c.164T>C (p.Leu55Pro)
|
rs2062412293
|
|
|
NM_000377.3(WAS):c.167C>T (p.Ala56Val)
|
rs132630269
|
|
|
NM_000377.3(WAS):c.168G>A (p.Ala56=)
|
|
|
|
NM_000377.3(WAS):c.172C>A (p.Pro58Thr)
|
rs2062412365
|
|
|
NM_000377.3(WAS):c.176del (p.Pro59fs)
|
rs2147262809
|
|
|
NM_000377.3(WAS):c.189C>T (p.His63=)
|
|
|
|
NM_000377.3(WAS):c.190T>C (p.Trp64Arg)
|
rs2147262851
|
|
|
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)
|
rs2147262855
|
|
|
NM_000377.3(WAS):c.194C>A (p.Thr65Asn)
|
|
|
|
NM_000377.3(WAS):c.19_41del (p.Gly7fs)
|
|
|
|
NM_000377.3(WAS):c.204T>C (p.His68=)
|
|
|
|
NM_000377.3(WAS):c.210G>A (p.Gly70=)
|
rs886038288
|
|
|
NM_000377.3(WAS):c.222C>T (p.Phe74=)
|
|
|
|
NM_000377.3(WAS):c.225G>A (p.Val75=)
|
|
|
|
NM_000377.3(WAS):c.227A>C (p.Lys76Thr)
|
rs782350319
|
|
|
NM_000377.3(WAS):c.230A>G (p.Asp77Gly)
|
|
|
|
NM_000377.3(WAS):c.238C>T (p.Gln80Ter)
|
rs2062412730
|
|
|
NM_000377.3(WAS):c.243G>A (p.Lys81=)
|
|
|
|
NM_000377.3(WAS):c.250T>C (p.Phe84Leu)
|
rs2147262951
|
|
|
NM_000377.3(WAS):c.256C>T (p.Arg86Cys)
|
rs2062412810
|
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
|
NM_000377.3(WAS):c.257G>A (p.Arg86His)
|
rs132630268
|
|
|
NM_000377.3(WAS):c.264C>A (p.Tyr88Ter)
|
|
|
|
NM_000377.3(WAS):c.271C>T (p.Gln91Ter)
|
rs1557006354
|
|
|
NM_000377.3(WAS):c.273+10_273+11dup
|
rs58371799
|
|
|
NM_000377.3(WAS):c.273+11C>A
|
|
|
|
NM_000377.3(WAS):c.273+11C>G
|
|
|
|
NM_000377.3(WAS):c.273+11C>T
|
|
|
|
NM_000377.3(WAS):c.273+11del
|
|
|
|
NM_000377.3(WAS):c.273+11dup
|
rs58371799
|
|
|
NM_000377.3(WAS):c.273+14C>G
|
|
|
|
NM_000377.3(WAS):c.273+17C>T
|
|
|
|
NM_000377.3(WAS):c.273+19A>G
|
|
|
|
NM_000377.3(WAS):c.273+6C>T
|
|
|
|
NM_000377.3(WAS):c.273+8_273+9insA
|
|
|
|
NM_000377.3(WAS):c.273+9C>T
|
|
|
|
NM_000377.3(WAS):c.273+9_273+11dup
|
|
|
|
NM_000377.3(WAS):c.273G>A (p.Gln91=)
|
|
|
|
NM_000377.3(WAS):c.274-20C>A
|
|
|
|
NM_000377.3(WAS):c.274-9C>G
|
rs2062416001
|
|
|
NM_000377.3(WAS):c.280C>T (p.Arg94Trp)
|
|
|
|
NM_000377.3(WAS):c.281G>A (p.Arg94Gln)
|
|
|
|
NM_000377.3(WAS):c.283C>T (p.Leu95=)
|
|
|
|
NM_000377.3(WAS):c.28C>T (p.Pro10Ser)
|
|
|
|
NM_000377.3(WAS):c.295del (p.Gln99fs)
|
|
|
|
NM_000377.3(WAS):c.296A>C (p.Gln99Pro)
|
rs2062416153
|
|
|
NM_000377.3(WAS):c.296A>G (p.Gln99Arg)
|
rs2062416153
|
|
|
NM_000377.3(WAS):c.302T>C (p.Leu101Pro)
|
|
|
|
NM_000377.3(WAS):c.302_303insC (p.Tyr102fs)
|
rs2062416187
|
|
|
NM_000377.3(WAS):c.303G>A (p.Leu101=)
|
|
|
|
NM_000377.3(WAS):c.30C>A (p.Pro10=)
|
|
|
|
NM_000377.3(WAS):c.30C>G (p.Pro10=)
|
|
|
|
NM_000377.3(WAS):c.30C>T (p.Pro10=)
|
|
|
|
NM_000377.3(WAS):c.311_312insAA (p.Leu105fs)
|
rs2062416272
|
|
|
NM_000377.3(WAS):c.319T>C (p.Tyr107His)
|
|
|
|
NM_000377.3(WAS):c.335C>G (p.Pro112Arg)
|
|
|
|
NM_000377.3(WAS):c.344A>G (p.His115Arg)
|
rs1569493774
|
|
|
NM_000377.3(WAS):c.348C>G (p.Thr116=)
|
|
|
|
NM_000377.3(WAS):c.355G>T (p.Gly119Ter)
|
rs1602177243
|
|
|
NM_000377.3(WAS):c.35dup (p.Arg13fs)
|
rs2062410421
|
|
|
NM_000377.3(WAS):c.360+13C>T
|
|
|
|
NM_000377.3(WAS):c.360+1G>A
|
rs1057520700
|
|
|
NM_000377.3(WAS):c.360+6T>C
|
|
|
|
NM_000377.3(WAS):c.361-10G>A
|
|
|
|
NM_000377.3(WAS):c.361-12A>G
|
rs781885441
|
|
|
NM_000377.3(WAS):c.361-1G>C
|
|
|
|
NM_000377.3(WAS):c.361-8A>T
|
|
|
|
NM_000377.3(WAS):c.369A>G (p.Gln123=)
|
|
|
|
NM_000377.3(WAS):c.371C>A (p.Ala124Glu)
|
rs782543817
|
|
|
NM_000377.3(WAS):c.372G>A (p.Ala124=)
|
|
|
|
NM_000377.3(WAS):c.373G>C (p.Gly125Arg)
|
rs2147263882
|
|
|
NM_000377.3(WAS):c.37C>T (p.Arg13Ter)
|
rs193922415
|
|
|
NM_000377.3(WAS):c.382T>C (p.Phe128Leu)
|
rs2147263906
|
|
|
NM_000377.3(WAS):c.383T>C (p.Phe128Ser)
|
|
|
|
NM_000377.3(WAS):c.383T>G (p.Phe128Cys)
|
|
|
|
NM_000377.3(WAS):c.385G>C (p.Ala129Pro)
|
|
|
|
NM_000377.3(WAS):c.388G>A (p.Asp130Asn)
|
rs1557006548
|
|
|
NM_000377.3(WAS):c.38G>A (p.Arg13Gln)
|
|
|
|
NM_000377.3(WAS):c.396C>T (p.Asp132=)
|
|
|
|
NM_000377.3(WAS):c.399G>T (p.Glu133Asp)
|
|
|
|
NM_000377.3(WAS):c.39_40delinsCC (p.Gly14Arg)
|
rs797044476
|
|
|
NM_000377.3(WAS):c.401C>T (p.Ala134Val)
|
|
|
|
NM_000377.3(WAS):c.404A>C (p.Gln135Pro)
|
|
|
|
NM_000377.3(WAS):c.405G>A (p.Gln135=)
|
|
|
|
NM_000377.3(WAS):c.412C>T (p.Arg138Trp)
|
rs1372273668
|
|
|
NM_000377.3(WAS):c.412dup (p.Arg138fs)
|
|
|
|
NM_000377.3(WAS):c.427_429del (p.Glu143del)
|
|
|
|
NM_000377.3(WAS):c.436del (p.Gln146fs)
|
rs2062417558
|
|
|
NM_000377.3(WAS):c.438A>G (p.Gln146=)
|
|
|
|
NM_000377.3(WAS):c.451_452del (p.Arg151fs)
|
|
|
|
NM_000377.3(WAS):c.455A>G (p.Gln152Arg)
|
|
|
|
NM_000377.3(WAS):c.463+10C>T
|
|
|
|
NM_000377.3(WAS):c.463+12A>G
|
|
|
|
NM_000377.3(WAS):c.463+1G>A
|
|
|
|
NM_000377.3(WAS):c.464-13C>T
|
|
|
|
NM_000377.3(WAS):c.464-9T>C
|
|
|
|
NM_000377.3(WAS):c.466del (p.Arg156fs)
|
|
|
|
NM_000377.3(WAS):c.467G>C (p.Arg156Thr)
|
rs2062418154
|
|
|
NM_000377.3(WAS):c.46C>G (p.Pro16Ala)
|
|
|
|
NM_000377.3(WAS):c.470G>A (p.Arg157His)
|
rs369850591
|
|
|
NM_000377.3(WAS):c.470_471del (p.Arg157fs)
|
rs1602177562
|
|
|
NM_000377.3(WAS):c.481C>G (p.Pro161Ala)
|
|
|
|
NM_000377.3(WAS):c.482C>A (p.Pro161Gln)
|
rs1569493803
|
|
|
NM_000377.3(WAS):c.498C>G (p.Ala166=)
|
rs2147264155
|
|
|
NM_000377.3(WAS):c.49G>T (p.Ala17Ser)
|
rs1569493673
|
|
|
NM_000377.3(WAS):c.505+10C>A
|
|
|
|
NM_000377.3(WAS):c.505+20T>C
|
|
|
|
NM_000377.3(WAS):c.505+4A>G
|
|
|
|
NM_000377.3(WAS):c.506-10A>G
|
|
|
|
NM_000377.3(WAS):c.506-15A>G
|
|
|
|
NM_000377.3(WAS):c.50C>T (p.Ala17Val)
|
|
|
|
NM_000377.3(WAS):c.512G>A (p.Arg171Lys)
|
|
|
|
NM_000377.3(WAS):c.519G>T (p.Gly173=)
|
|
|
|
NM_000377.3(WAS):c.51G>A (p.Ala17=)
|
|
|
|
NM_000377.3(WAS):c.51G>C (p.Ala17=)
|
|
|
|
NM_000377.3(WAS):c.524C>T (p.Pro175Leu)
|
|
|
|
NM_000377.3(WAS):c.52G>A (p.Val18Ile)
|
rs1569493676
|
|
|
NM_000377.3(WAS):c.530T>G (p.Leu177Arg)
|
|
|
|
NM_000377.3(WAS):c.533C>T (p.Pro178Leu)
|
rs2062419034
|
|
|
NM_000377.3(WAS):c.539dup (p.His180fs)
|
rs2147264299
|
|
|
NM_000377.3(WAS):c.540T>C (p.His180=)
|
|
|
|
NM_000377.3(WAS):c.547G>A (p.Gly183Arg)
|
|
|
|
NM_000377.3(WAS):c.554A>T (p.Gln185Leu)
|
rs2147264325
|
|
|
NM_000377.3(WAS):c.559+14_559+32del
|
rs782477646
|
|
|
NM_000377.3(WAS):c.559+4C>T
|
|
|
|
NM_000377.3(WAS):c.559+5G>A
|
rs886039451
|
|
|
NM_000377.3(WAS):c.559+6_559+13dup
|
|
|
|
NM_000377.3(WAS):c.559+8C>G
|
rs1602177756
|
|
|
NM_000377.3(WAS):c.560-4A>C
|
|
|
|
NM_000377.3(WAS):c.560-5dup
|
rs782563873
|
|
|
NM_000377.3(WAS):c.560-6C>T
|
|
|
|
NM_000377.3(WAS):c.565_566delinsAG (p.Pro189Arg)
|
rs1569493862
|
|
|
NM_000377.3(WAS):c.570G>A (p.Val190=)
|
|
|
|
NM_000377.3(WAS):c.576G>A (p.Pro192=)
|
|
|
|
NM_000377.3(WAS):c.579C>T (p.Leu193=)
|
|
|
|
NM_000377.3(WAS):c.585G>T (p.Leu195=)
|
|
|
|
NM_000377.3(WAS):c.588G>C (p.Gly196=)
|
|
|
|
NM_000377.3(WAS):c.58C>T (p.Gln20Ter)
|
|
|
|
NM_000377.3(WAS):c.601G>A (p.Asp201Asn)
|
rs2147264847
|
|
|
NM_000377.3(WAS):c.603C>T (p.Asp201=)
|
rs2062421636
|
|
|
NM_000377.3(WAS):c.606C>A (p.Ile202=)
|
|
|
|
NM_000377.3(WAS):c.618C>T (p.Asp206=)
|
|
|
|
NM_000377.3(WAS):c.619_623del (p.Ile207fs)
|
|
|
|
NM_000377.3(WAS):c.624G>A (p.Thr208=)
|
rs2147264874
|
|
|
NM_000377.3(WAS):c.629C>G (p.Ser210Ter)
|
|
|
|
NM_000377.3(WAS):c.62A>T (p.Asn21Ile)
|
|
|
|
NM_000377.3(WAS):c.631C>T (p.Arg211Ter)
|
rs1602178165
|
|
|
NM_000377.3(WAS):c.632G>A (p.Arg211Gln)
|
|
|
|
NM_000377.3(WAS):c.633A>G (p.Arg211=)
|
rs2147264887
|
|
|
NM_000377.3(WAS):c.638G>A (p.Arg213His)
|
|
|
|
NM_000377.3(WAS):c.642G>C (p.Gly214=)
|
|
|
|
NM_000377.3(WAS):c.650C>A (p.Ala217Glu)
|
|
|
|
NM_000377.3(WAS):c.658C>T (p.Pro220Ser)
|
|
|
|
NM_000377.3(WAS):c.660_664del (p.Ser221_Pro222insTer)
|
rs1602178184
|
|
|
NM_000377.3(WAS):c.663C>T (p.Ser221=)
|
|
|
|
NM_000377.3(WAS):c.669T>G (p.Ala223=)
|
rs928562174
|
|
|
NM_000377.3(WAS):c.675G>A (p.Lys225=)
|
|
|
|
NM_000377.3(WAS):c.687G>T (p.Gly229=)
|
|
|
|
NM_000377.3(WAS):c.689A>G (p.Lys230Arg)
|
rs1569493872
|
|
|
NM_000377.3(WAS):c.689AGA[2] (p.Lys232del)
|
rs782409127
|
|
|
NM_000377.3(WAS):c.690G>A (p.Lys230=)
|
|
|
|
NM_000377.3(WAS):c.692del (p.Lys231fs)
|
rs2062422078
|
|
|
NM_000377.3(WAS):c.6T>C (p.Ser2=)
|
|
|
|
NM_000377.3(WAS):c.701del (p.Ser234fs)
|
|
|
|
NM_000377.3(WAS):c.706G>A (p.Ala236Thr)
|
|
|
|
NM_000377.3(WAS):c.70T>C (p.Ser24Pro)
|
rs2062410722
|
|
|
NM_000377.3(WAS):c.723del (p.Ser242fs)
|
rs2147264981
|
|
|
NM_000377.3(WAS):c.726T>G (p.Ser242Arg)
|
rs947162120
|
|
|
NM_000377.3(WAS):c.734+1G>C
|
|
|
|
NM_000377.3(WAS):c.734+2T>A
|
rs1569493877
|
|
|
NM_000377.3(WAS):c.734+3G>A
|
|
|
|
NM_000377.3(WAS):c.734+5G>A
|
rs1602178267
|
|
|
NM_000377.3(WAS):c.735-10C>A
|
|
|
|
NM_000377.3(WAS):c.735-16_735-15insGT
|
|
|
|
NM_000377.3(WAS):c.735-2A>T
|
|
|
|
NM_000377.3(WAS):c.735-5C>T
|
|
|
|
NM_000377.3(WAS):c.744C>T (p.Ser248=)
|
|
|
|
NM_000377.3(WAS):c.747C>A (p.His249Gln)
|
|
|
|
NM_000377.3(WAS):c.747C>T (p.His249=)
|
|
|
|
NM_000377.3(WAS):c.753dup (p.Trp252fs)
|
rs2147265693
|
|
|
NM_000377.3(WAS):c.75C>T (p.Thr25=)
|
|
|
|
NM_000377.3(WAS):c.765G>C (p.Gln255His)
|
|
|
|
NM_000377.3(WAS):c.768T>C (p.Asn256=)
|
rs2147265705
|
|
|
NM_000377.3(WAS):c.777+11T>A
|
|
|
|
NM_000377.3(WAS):c.777+12del
|
|
|
|
NM_000377.3(WAS):c.777+17T>C
|
|
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
|
NM_000377.3(WAS):c.777+3_777+6del
|
rs2147265717
|
|
|
NM_000377.3(WAS):c.777+4A>C
|
|
|
|
NM_000377.3(WAS):c.777+6dup
|
rs2147265723
|
|
|
NM_000377.3(WAS):c.777C>T (p.Asp259=)
|
rs2147265709
|
|
|
NM_000377.3(WAS):c.778-11C>T
|
|
|
|
NM_000377.3(WAS):c.778-14T>C
|
|
|
|
NM_000377.3(WAS):c.778-6G>A
|
rs1557007011
|
|
|
NM_000377.3(WAS):c.778-8C>T
|
|
|
|
NM_000377.3(WAS):c.780G>A (p.Val260=)
|
rs2147265866
|
|
|
NM_000377.3(WAS):c.789C>T (p.Leu263=)
|
|
|
|
NM_000377.3(WAS):c.790G>A (p.Asp264Asn)
|
rs2147265872
|
|
|
NM_000377.3(WAS):c.795A>C (p.Pro265=)
|
|
|
|
NM_000377.3(WAS):c.803G>C (p.Arg268Pro)
|
|
|
|
NM_000377.3(WAS):c.803delinsTT (p.Arg268fs)
|
rs1602178952
|
|
|
NM_000377.3(WAS):c.805A>T (p.Ser269Cys)
|
rs2147265903
|
|
|
NM_000377.3(WAS):c.809T>C (p.Leu270Pro)
|
rs132630274
|
|
|
NM_000377.3(WAS):c.810G>T (p.Leu270=)
|
|
|
|
NM_000377.3(WAS):c.814T>C (p.Ser272Pro)
|
rs387906716
|
|
|
NM_000377.3(WAS):c.819G>A (p.Arg273=)
|
|
|
|
NM_000377.3(WAS):c.819G>C (p.Arg273Ser)
|
|
|
|
NM_000377.3(WAS):c.827_828insGGGCCTTCTCCAGGGCAGGAAT (p.Ile276fs)
|
rs2147265917
|
|
|
NM_000377.3(WAS):c.82C>T (p.Gln28Ter)
|
|
|
|
NM_000377.3(WAS):c.831C>T (p.Ser277=)
|
|
|
|
NM_000377.3(WAS):c.832G>T (p.Glu278Ter)
|
|
|
|
NM_000377.3(WAS):c.834G>A (p.Glu278=)
|
|
|
|
NM_000377.3(WAS):c.841C>A (p.Leu281Ile)
|
rs2147265956
|
|
|
NM_000377.3(WAS):c.846C>T (p.Thr282=)
|
|
|
|
NM_000377.3(WAS):c.852C>G (p.Ala284=)
|
|
|
|
NM_000377.3(WAS):c.858C>T (p.Thr286=)
|
rs2147266003
|
|
|
NM_000377.3(WAS):c.858del (p.Ser287fs)
|
rs1602179000
|
|
|
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)
|
rs2062426981
|
|
|
NM_000377.3(WAS):c.874G>A (p.Asp292Asn)
|
rs2062427019
|
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
|
NM_000377.3(WAS):c.88_90del (p.His30del)
|
|
|
|
NM_000377.3(WAS):c.916G>A (p.Glu306Lys)
|
|
|
|
NM_000377.3(WAS):c.919A>G (p.Met307Val)
|
|
|
|
NM_000377.3(WAS):c.91G>A (p.Glu31Lys)
|
rs1557006239
|
|
|
NM_000377.3(WAS):c.925C>T (p.Arg309Cys)
|
rs1215457658
|
|
|
NM_000377.3(WAS):c.931+10T>A
|
|
|
|
NM_000377.3(WAS):c.931+14T>C
|
|
|
|
NM_000377.3(WAS):c.931+15C>T
|
|
|
|
NM_000377.3(WAS):c.931+19A>C
|
|
|
|
NM_000377.3(WAS):c.931+20C>A
|
rs782462041
|
|
|
NM_000377.3(WAS):c.931+20C>T
|
|
|
|
NM_000377.3(WAS):c.931+5G>C
|
|
|
|
NM_000377.3(WAS):c.931+7C>A
|
|
|
|
NM_000377.3(WAS):c.932-12C>A
|
|
|
|
NM_000377.3(WAS):c.932-12C>T
|
|
|
|
NM_000377.3(WAS):c.932-15A>G
|
|
|
|
NM_000377.3(WAS):c.932-18_932-17del
|
|
|
|
NM_000377.3(WAS):c.932-5C>T
|
|
|
|
NM_000377.3(WAS):c.932-9C>A
|
|
|
|
NM_000377.3(WAS):c.932-9_932-8dup
|
|
|
|
NM_000377.3(WAS):c.942G>A (p.Pro314=)
|
|
|
|
NM_000377.3(WAS):c.945G>A (p.Pro315=)
|
|
|
|
NM_000377.3(WAS):c.947C>A (p.Pro316His)
|
rs2147266241
|
|
|
NM_000377.3(WAS):c.959C>T (p.Ser320Phe)
|
|
|
|
NM_000377.3(WAS):c.961C>T (p.Arg321Ter)
|
rs1557007123
|
|
|
NM_000377.3(WAS):c.963AGG[1] (p.Gly323del)
|
|
|
|
NM_000377.3(WAS):c.964G>T (p.Gly322Ter)
|
|
|
|
NM_000377.3(WAS):c.969del (p.Asn324fs)
|
|
|
|
NM_000377.3(WAS):c.97C>G (p.Gln33Glu)
|
rs1569493682
|
|
|
NM_000377.3(WAS):c.983G>A (p.Arg328Gln)
|
|
|
|
NM_000377.3(WAS):c.987C>T (p.Pro329=)
|
|
|
|
NM_000377.3(WAS):c.991A>T (p.Ile331Phe)
|
rs2147266334
|
|
|
NM_000377.3(WAS):c.992T>C (p.Ile331Thr)
|
|
|
|
NM_000377.3(WAS):c.996G>C (p.Val332=)
|
|
|
|
NM_000377.3(WAS):c.996G>T (p.Val332=)
|
|
|
|
NM_000377.3(WAS):c.999G>C (p.Gly333=)
|
|
|
|
NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)
|
rs1558697792
|
|
|
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
|
|
|
|
NM_000760.4(CSF3R):c.1012C>T (p.Leu338=)
|
|
|
|
NM_000760.4(CSF3R):c.1018A>G (p.Thr340Ala)
|
rs1650787609
|
|
|
NM_000760.4(CSF3R):c.1037A>C (p.Gln346Pro)
|
rs3917974
|
|
|
NM_000760.4(CSF3R):c.1044C>A (p.Asp348Glu)
|
rs766845092
|
|
|
NM_000760.4(CSF3R):c.105C>T (p.Ile35=)
|
rs3917954
|
|
|
NM_000760.4(CSF3R):c.1071+13G>A
|
rs1470411346
|
|
|
NM_000760.4(CSF3R):c.1071+1_1071+5dup
|
rs770568094
|
|
|
NM_000760.4(CSF3R):c.1072-10T>C
|
rs1557592278
|
|
|
NM_000760.4(CSF3R):c.1072-14C>G
|
|
|
|
NM_000760.4(CSF3R):c.1072-18T>C
|
|
|
|
NM_000760.4(CSF3R):c.1072-1G>A
|
|
|
|
NM_000760.4(CSF3R):c.1072-1G>C
|
rs992318824
|
|
|
NM_000760.4(CSF3R):c.1072-3C>T
|
|
|
|
NM_000760.4(CSF3R):c.1072-8C>A
|
rs2124119433
|
|
|
NM_000760.4(CSF3R):c.1072-9G>A
|
rs1650746294
|
|
|
NM_000760.4(CSF3R):c.1078C>T (p.Pro360Ser)
|
rs751225562
|
|
|
NM_000760.4(CSF3R):c.1083G>A (p.Leu361=)
|
|
|
|
NM_000760.4(CSF3R):c.1095C>A (p.Ser365Arg)
|
|
|
|
NM_000760.4(CSF3R):c.1099C>T (p.Arg367Trp)
|
|
|
|
NM_000760.4(CSF3R):c.1101G>A (p.Arg367=)
|
|
|
|
NM_000760.4(CSF3R):c.1103T>C (p.Ile368Thr)
|
rs1650741888
|
|
|
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
|
|
|
|
NM_000760.4(CSF3R):c.1116G>C (p.Val372=)
|
|
|
|
NM_000760.4(CSF3R):c.1117G>C (p.Val373Leu)
|
|
|
|
NM_000760.4(CSF3R):c.1119T>A (p.Val373=)
|
|
|
|
NM_000760.4(CSF3R):c.1129C>T (p.Pro377Ser)
|
|
|
|
NM_000760.4(CSF3R):c.1140G>C (p.Gln380His)
|
|
|
|
NM_000760.4(CSF3R):c.1144G>A (p.Gly382Arg)
|
|
|
|
NM_000760.4(CSF3R):c.1156C>T (p.Pro386Ser)
|
rs1650737288
|
|
|
NM_000760.4(CSF3R):c.1176G>A (p.Glu392=)
|
|
|
|
NM_000760.4(CSF3R):c.1178T>C (p.Leu393Pro)
|
rs1163985254
|
|
|
NM_000760.4(CSF3R):c.1182C>G (p.Ser394Arg)
|
|
|
|
NM_000760.4(CSF3R):c.1197G>A (p.Leu399=)
|
rs898927823
|
|
|
NM_000760.4(CSF3R):c.1212G>A (p.Gln404=)
|
rs559429248
|
|
|
NM_000760.4(CSF3R):c.1216dup (p.Val406fs)
|
rs890101650
|
|
|
NM_000760.4(CSF3R):c.1222C>T (p.Leu408Phe)
|
|
|
|
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
|
|
|
|
NM_000760.4(CSF3R):c.1245G>C (p.Gly415=)
|
|
|
|
NM_000760.4(CSF3R):c.1245del (p.Thr416fs)
|
rs606231474
|
|
|
NM_000760.4(CSF3R):c.1249T>A (p.Ser417Thr)
|
|
|
|
NM_000760.4(CSF3R):c.1253_1254inv (p.Arg418His)
|
|
|
|
NM_000760.4(CSF3R):c.1258A>G (p.Thr420Ala)
|
|
|
|
NM_000760.4(CSF3R):c.1262C>T (p.Pro421Leu)
|
|
|
|
NM_000760.4(CSF3R):c.1266G>A (p.Val422=)
|
rs746450541
|
|
|
NM_000760.4(CSF3R):c.126C>A (p.Ile42=)
|
|
|
|
NM_000760.4(CSF3R):c.1272C>G (p.Phe424Leu)
|
|
|
|
NM_000760.4(CSF3R):c.1285+17G>T
|
|
|
|
NM_000760.4(CSF3R):c.1285+3A>G
|
|
|
|
NM_000760.4(CSF3R):c.1285G>A (p.Gly429Ser)
|
rs1650719908
|
|
|
NM_000760.4(CSF3R):c.1286-4C>T
|
rs1570583247
|
|
|
NM_000760.4(CSF3R):c.1292C>T (p.Ala431Val)
|
|
|
|
NM_000760.4(CSF3R):c.1297A>T (p.Thr433Ser)
|
|
|
|
NM_000760.4(CSF3R):c.1307A>T (p.His436Leu)
|
rs749559806
|
|
|
NM_000760.4(CSF3R):c.1324C>T (p.Pro442Ser)
|
rs1260196968
|
|
|
NM_000760.4(CSF3R):c.1346G>T (p.Trp449Leu)
|
|
|
|
NM_000760.4(CSF3R):c.1348G>A (p.Glu450Lys)
|
rs766441662
|
|
|
NM_000760.4(CSF3R):c.1348_1349delinsAT (p.Glu450Met)
|
|
|
|
NM_000760.4(CSF3R):c.1351C>T (p.Pro451Ser)
|
rs139862991
|
|
|
NM_000760.4(CSF3R):c.1356C>T (p.Pro452=)
|
rs2124111294
|
|
|
NM_000760.4(CSF3R):c.1361C>T (p.Pro454Leu)
|
|
|
|
NM_000760.4(CSF3R):c.1372G>C (p.Gly458Arg)
|
rs2124111042
|
|
|
NM_000760.4(CSF3R):c.1377T>C (p.Tyr459=)
|
rs367641463
|
|
|
NM_000760.4(CSF3R):c.137_138delinsTT (p.Cys46Phe)
|
|
|
|
NM_000760.4(CSF3R):c.1384G>C (p.Glu462Gln)
|
|
|
|
NM_000760.4(CSF3R):c.1399C>A (p.Pro467Thr)
|
|
|
|
NM_000760.4(CSF3R):c.1399C>G (p.Pro467Ala)
|
rs538923210
|
|
|
NM_000760.4(CSF3R):c.1399C>T (p.Pro467Ser)
|
rs538923210
|
|
|
NM_000760.4(CSF3R):c.1404del (p.Ser469fs)
|
rs747437399
|
|
|
NM_000760.4(CSF3R):c.1406G>T (p.Ser469Ile)
|
|
|
|
NM_000760.4(CSF3R):c.1412_1413delinsAA (p.Ser471Lys)
|
rs2124110365
|
|
|
NM_000760.4(CSF3R):c.1429T>C (p.Trp477Arg)
|
rs879052375
|
|
|
NM_000760.4(CSF3R):c.1474+16A>G
|
|
|
|
NM_000760.4(CSF3R):c.1474+19G>T
|
rs747544404
|
|
|
NM_000760.4(CSF3R):c.1474+3G>A
|
rs2124109417
|
|
|
NM_000760.4(CSF3R):c.1475-3C>A
|
|
|
|
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
|
|
|
|
NM_000760.4(CSF3R):c.14G>C (p.Gly5Ala)
|
|
|
|
NM_000760.4(CSF3R):c.1503G>C (p.Glu501Asp)
|
|
|
|
NM_000760.4(CSF3R):c.1506C>T (p.Ile502=)
|
|
|
|
NM_000760.4(CSF3R):c.1512G>A (p.Val504=)
|
rs1650544652
|
|
|
NM_000760.4(CSF3R):c.1518C>T (p.Pro506=)
|
|
|
|
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter)
|
rs1236469336
|
|
|
NM_000760.4(CSF3R):c.1530C>T (p.Asp510=)
|
|
|
|
NM_000760.4(CSF3R):c.1531A>G (p.Thr511Ala)
|
rs2124107417
|
|
|
NM_000760.4(CSF3R):c.153C>A (p.Asn51Lys)
|
|
|
|
NM_000760.4(CSF3R):c.153C>T (p.Asn51=)
|
|
|
|
NM_000760.4(CSF3R):c.1548G>A (p.Gln516=)
|
|
|
|
NM_000760.4(CSF3R):c.1558_1559delinsAA (p.Ala520Asn)
|
|
|
|
NM_000760.4(CSF3R):c.1569A>T (p.Gln523His)
|
|
|
|
NM_000760.4(CSF3R):c.1575G>A (p.Met525Ile)
|
|
|
|
NM_000760.4(CSF3R):c.1576+11T>C
|
|
|
|
NM_000760.4(CSF3R):c.1576+1G>A
|
rs1031224658
|
|
|
NM_000760.4(CSF3R):c.1577-1G>A
|
|
|
|
NM_000760.4(CSF3R):c.1577-20G>A
|
|
|
|
NM_000760.4(CSF3R):c.1587T>C (p.His529=)
|
rs778419529
|
|
|
NM_000760.4(CSF3R):c.1605A>G (p.Leu535=)
|
|
|
|
NM_000760.4(CSF3R):c.1608G>C (p.Lys536Asn)
|
rs1196522809
|
|
|
NM_000760.4(CSF3R):c.160C>G (p.His54Asp)
|
rs371768579
|
|
|
NM_000760.4(CSF3R):c.1612A>G (p.Ile538Val)
|
rs375571657
|
|
|
NM_000760.4(CSF3R):c.1630C>G (p.Gln544Glu)
|
|
|
|
NM_000760.4(CSF3R):c.1646C>A (p.Pro549His)
|
rs1650466012
|
|
|
NM_000760.4(CSF3R):c.1667A>G (p.Lys556Arg)
|
|
|
|
NM_000760.4(CSF3R):c.1670G>A (p.Ser557Asn)
|
|
|
|
NM_000760.4(CSF3R):c.1672C>T (p.Pro558Ser)
|
|
|
|
NM_000760.4(CSF3R):c.1681C>G (p.His561Asp)
|
rs1198283969
|
|
|
NM_000760.4(CSF3R):c.168C>T (p.Asp56=)
|
|
|
|
NM_000760.4(CSF3R):c.1723+13T>G
|
|
|
|
NM_000760.4(CSF3R):c.1723+19C>T
|
|
|
|
NM_000760.4(CSF3R):c.1723T>C (p.Ser575Pro)
|
|
|
|
NM_000760.4(CSF3R):c.1724-10C>A
|
|
|
|
NM_000760.4(CSF3R):c.1724-6T>G
|
rs1217235164
|
|
|
NM_000760.4(CSF3R):c.1724-7C>T
|
|
|
|
NM_000760.4(CSF3R):c.1724-9C>T
|
|
|
|
NM_000760.4(CSF3R):c.1751G>A (p.Gly584Asp)
|
|
|
|
NM_000760.4(CSF3R):c.1764T>C (p.His588=)
|
|
|
|
NM_000760.4(CSF3R):c.1765G>A (p.Gly589Ser)
|
|
|
|
NM_000760.4(CSF3R):c.1771G>A (p.Glu591Lys)
|
|
|
|
NM_000760.4(CSF3R):c.1772A>C (p.Glu591Ala)
|
|
|
|
NM_000760.4(CSF3R):c.1773G>A (p.Glu591=)
|
rs2124102034
|
|
|
NM_000760.4(CSF3R):c.1776C>T (p.Pro592=)
|
|
|
|
NM_000760.4(CSF3R):c.1777G>A (p.Ala593Thr)
|
|
|
|
NM_000760.4(CSF3R):c.1785_1786del (p.Tyr596fs)
|
rs1557587773
|
|
|
NM_000760.4(CSF3R):c.1793T>C (p.Ile598Thr)
|
|
|
|
NM_000760.4(CSF3R):c.1807G>T (p.Ala603Ser)
|
|
|
|
NM_000760.4(CSF3R):c.1829A>T (p.Asn610Ile)
|
rs764132853
|
|
|
NM_000760.4(CSF3R):c.1842C>T (p.Leu614=)
|
|
|
|
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile)
|
rs796065343
|
|
|
NM_000760.4(CSF3R):c.1864+17G>A
|
|
|
|
NM_000760.4(CSF3R):c.1864+7G>T
|
rs1375923168
|
|
|
NM_000760.4(CSF3R):c.1865-16C>A
|
|
|
|
NM_000760.4(CSF3R):c.1865-19G>A
|
|
|
|
NM_000760.4(CSF3R):c.1865-19G>C
|
|
|
|
NM_000760.4(CSF3R):c.1865-20C>T
|
rs375651066
|
|
|
NM_000760.4(CSF3R):c.1865-4G>A
|
|
|
|
NM_000760.4(CSF3R):c.1869G>T (p.Gly623=)
|
|
|
|
NM_000760.4(CSF3R):c.1883T>A (p.Ile628Asn)
|
rs1334552669
|
|
|
NM_000760.4(CSF3R):c.1899C>T (p.Phe633=)
|
|
|
|
NM_000760.4(CSF3R):c.1912_1914dup (p.Leu639_Thr640insLeu)
|
|
|
|
NM_000760.4(CSF3R):c.1928G>A (p.Cys643Tyr)
|
|
|
|
NM_000760.4(CSF3R):c.1936G>A (p.Ala646Thr)
|
|
|
|
NM_000760.4(CSF3R):c.1958+18A>G
|
rs755191694
|
|
|
NM_000760.4(CSF3R):c.1958+19C>T
|
|
|
|
NM_000760.4(CSF3R):c.1958+20C>G
|
|
|
|
NM_000760.4(CSF3R):c.1959-4C>G
|
|
|
|
NM_000760.4(CSF3R):c.1959-6C>T
|
|
|
|
NM_000760.4(CSF3R):c.198A>T (p.Gly66=)
|
|
|
|
NM_000760.4(CSF3R):c.2028A>C (p.Thr676=)
|
|
|
|
NM_000760.4(CSF3R):c.2029A>G (p.Ile677Val)
|
|
|
|
NM_000760.4(CSF3R):c.2038G>A (p.Glu680Lys)
|
|
|
|
NM_000760.4(CSF3R):c.2039_2040del (p.Glu680fs)
|
rs1420932797
|
|
|
NM_000760.4(CSF3R):c.203A>G (p.Glu68Gly)
|
rs2124136821
|
|
|
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs)
|
rs757401069
|
|
|
NM_000760.4(CSF3R):c.2040+13G>A
|
|
|
|
NM_000760.4(CSF3R):c.2040+15G>A
|
|
|
|
NM_000760.4(CSF3R):c.2040+4A>G
|
|
|
|
NM_000760.4(CSF3R):c.204G>A (p.Glu68=)
|
|
|
|
NM_000760.4(CSF3R):c.2070G>A (p.Thr690=)
|
|
|
|
NM_000760.4(CSF3R):c.2074C>T (p.Pro692Ser)
|
|
|
|
NM_000760.4(CSF3R):c.2086C>T (p.Leu696Phe)
|
|
|
|
NM_000760.4(CSF3R):c.2094G>C (p.Val698=)
|
|
|
|
NM_000760.4(CSF3R):c.2112G>T (p.Lys704Asn)
|
|
|
|
NM_000760.4(CSF3R):c.2115G>A (p.Lys705=)
|
|
|
|
NM_000760.4(CSF3R):c.2118G>T (p.Pro706=)
|
|
|
|
NM_000760.4(CSF3R):c.2123C>T (p.Pro708Leu)
|
|
|
|
NM_000760.4(CSF3R):c.2130G>C (p.Glu710Asp)
|
rs370491074
|
|
|
NM_000760.4(CSF3R):c.213C>T (p.Pro71=)
|
|
|
|
NM_000760.4(CSF3R):c.214G>A (p.Gly72Arg)
|
rs375879178
|
|
|
NM_000760.4(CSF3R):c.214G>T (p.Gly72Trp)
|
rs375879178
|
|
|
NM_000760.4(CSF3R):c.2153G>T (p.Cys718Phe)
|
|
|
|
NM_000760.4(CSF3R):c.2156_2187dup (p.Gln730fs)
|
|
|
|
NM_000760.4(CSF3R):c.2160C>T (p.Leu720=)
|
|
|
|
NM_000760.4(CSF3R):c.2163C>G (p.Pro721=)
|
rs538096821
|
|
|
NM_000760.4(CSF3R):c.2164A>G (p.Thr722Ala)
|
rs2124096799
|
|
|
NM_000760.4(CSF3R):c.217G>A (p.Gly73Ser)
|
|
|
|
NM_000760.4(CSF3R):c.218dup (p.Arg74fs)
|
rs765536522
|
|
|
NM_000760.4(CSF3R):c.2213C>A (p.Thr738Asn)
|
|
|
|
NM_000760.4(CSF3R):c.2227C>T (p.Gln743Ter)
|
|
|
|
NM_000760.4(CSF3R):c.2231C>T (p.Ser744Phe)
|
rs1296151274
|
|
|
NM_000760.4(CSF3R):c.2235C>G (p.Gly745=)
|
|
|
|
NM_000760.4(CSF3R):c.2245C>T (p.Gln749Ter)
|
rs1650332196
|
|
|
NM_000760.4(CSF3R):c.2270G>C (p.Gly757Ala)
|
|
|
|
NM_000760.4(CSF3R):c.2279C>A (p.Thr760Lys)
|
rs1436771935
|
|
|
NM_000760.4(CSF3R):c.2280A>G (p.Thr760=)
|
|
|
|
NM_000760.4(CSF3R):c.2289G>A (p.Gly763=)
|
rs1481867581
|
|
|
NM_000760.4(CSF3R):c.2293G>A (p.Gly765Arg)
|
rs2124096083
|
|
|
NM_000760.4(CSF3R):c.229C>T (p.Arg77Cys)
|
rs2124136605
|
|
|
NM_000760.4(CSF3R):c.2305C>T (p.Arg769Cys)
|
|
|
|
NM_000760.4(CSF3R):c.2306G>A (p.Arg769His)
|
|
|
|
NM_000760.4(CSF3R):c.2306G>T (p.Arg769Leu)
|
|
|
|
NM_000760.4(CSF3R):c.2315C>G (p.Ser772Cys)
|
|
|
|
NM_000760.4(CSF3R):c.2325C>T (p.Pro775=)
|
rs138866886
|
|
|
NM_000760.4(CSF3R):c.2333C>A (p.Ala778Glu)
|
|
|
|
NM_000760.4(CSF3R):c.2349C>T (p.Ser783=)
|
|
|
|
NM_000760.4(CSF3R):c.2358C>T (p.Ser786=)
|
|
|
|
NM_000760.4(CSF3R):c.235T>C (p.Ser79Pro)
|
|
|
|
NM_000760.4(CSF3R):c.2367C>T (p.Asn789=)
|
rs946096806
|
|
|
NM_000760.4(CSF3R):c.2381C>T (p.Ala794Val)
|
rs1183274433
|
|
|
NM_000760.4(CSF3R):c.2389T>C (p.Leu797=)
|
rs1557585422
|
|
|
NM_000760.4(CSF3R):c.238G>T (p.Asp80Tyr)
|
rs1207837094
|
|
|
NM_000760.4(CSF3R):c.2403A>G (p.Val801=)
|
rs2124095601
|
|
|
NM_000760.4(CSF3R):c.2417G>C (p.Ser806Thr)
|
rs927190839
|
|
|
NM_000760.4(CSF3R):c.2420A>G (p.Gln807Arg)
|
|
|
|
NM_000760.4(CSF3R):c.2423A>G (p.Glu808Gly)
|
|
|
|
NM_000760.4(CSF3R):c.2429A>G (p.Asp810Gly)
|
|
|
|
NM_000760.4(CSF3R):c.2441G>A (p.Gly814Glu)
|
|
|
|
NM_000760.4(CSF3R):c.2450T>C (p.Leu817Pro)
|
|
|
|
NM_000760.4(CSF3R):c.2454C>T (p.Asn818=)
|
rs1650313816
|
|
|
NM_000760.4(CSF3R):c.2455T>A (p.Phe819Ile)
|
|
|
|
NM_000760.4(CSF3R):c.2476C>T (p.Arg826Trp)
|
|
|
|
NM_000760.4(CSF3R):c.2483A>G (p.His828Arg)
|
rs1272584212
|
|
|
NM_000760.4(CSF3R):c.2494_2495delinsAA (p.Ala832Lys)
|
rs2124095140
|
|
|
NM_000760.4(CSF3R):c.2495C>A (p.Ala832Glu)
|
|
|
|
NM_000760.4(CSF3R):c.263C>A (p.Thr88Asn)
|
|
|
|
NM_000760.4(CSF3R):c.263C>T (p.Thr88Ile)
|
|
|
|
NM_000760.4(CSF3R):c.270C>T (p.Pro90=)
|
|
|
|
NM_000760.4(CSF3R):c.273C>T (p.His91=)
|
|
|
|
NM_000760.4(CSF3R):c.274C>G (p.Leu92Val)
|
rs1434762753
|
|
|
NM_000760.4(CSF3R):c.274C>T (p.Leu92Phe)
|
|
|
|
NM_000760.4(CSF3R):c.28_51del (p.Thr10_Leu17del)
|
rs1463924000
|
|
|
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
|
|
|
|
NM_000760.4(CSF3R):c.29C>T (p.Thr10Ile)
|
|
|
|
NM_000760.4(CSF3R):c.312C>A (p.Asn104Lys)
|
rs750132507
|
|
|
NM_000760.4(CSF3R):c.324C>T (p.Ser108=)
|
rs2124136036
|
|
|
NM_000760.4(CSF3R):c.326T>C (p.Leu109Pro)
|
rs1290014200
|
|
|
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter)
|
rs2124152665
|
|
|
NM_000760.4(CSF3R):c.344T>G (p.Val115Gly)
|
rs139022075
|
|
|
NM_000760.4(CSF3R):c.354C>T (p.Arg118=)
|
|
|
|
NM_000760.4(CSF3R):c.355G>T (p.Ala119Ser)
|
|
|
|
NM_000760.4(CSF3R):c.361+15C>T
|
|
|
|
NM_000760.4(CSF3R):c.361+1G>T
|
|
|
|
NM_000760.4(CSF3R):c.362-27_362-18del
|
|
|
|
NM_000760.4(CSF3R):c.366T>G (p.Pro122=)
|
rs201313973
|
|
|
NM_000760.4(CSF3R):c.381C>A (p.His127Gln)
|
rs1348822018
|
|
|
NM_000760.4(CSF3R):c.420C>T (p.Leu140=)
|
rs1650945872
|
|
|
NM_000760.4(CSF3R):c.425G>T (p.Cys142Phe)
|
rs2124129472
|
|
|
NM_000760.4(CSF3R):c.429G>T (p.Gln143His)
|
rs766974881
|
|
|
NM_000760.4(CSF3R):c.435G>A (p.Glu145=)
|
|
|
|
NM_000760.4(CSF3R):c.445G>A (p.Glu149Lys)
|
rs2124129371
|
|
|
NM_000760.4(CSF3R):c.463A>G (p.Ser155Gly)
|
|
|
|
NM_000760.4(CSF3R):c.464G>C (p.Ser155Thr)
|
|
|
|
NM_000760.4(CSF3R):c.484A>C (p.Lys162Gln)
|
|
|
|
NM_000760.4(CSF3R):c.485+13C>T
|
rs2124129153
|
|
|
NM_000760.4(CSF3R):c.485+18C>T
|
rs1421627142
|
|
|
NM_000760.4(CSF3R):c.485+6G>C
|
|
|
|
NM_000760.4(CSF3R):c.485+8G>A
|
|
|
|
NM_000760.4(CSF3R):c.486-5G>A
|
|
|
|
NM_000760.4(CSF3R):c.505A>T (p.Thr169Ser)
|
rs1650924939
|
|
|
NM_000760.4(CSF3R):c.506C>G (p.Thr169Ser)
|
|
|
|
NM_000760.4(CSF3R):c.522C>T (p.Ile174=)
|
|
|
|
NM_000760.4(CSF3R):c.532G>A (p.Val178Met)
|
rs186379741
|
|
|
NM_000760.4(CSF3R):c.538A>C (p.Lys180Gln)
|
rs1557595050
|
|
|
NM_000760.4(CSF3R):c.544G>A (p.Gly182Arg)
|
|
|
|
NM_000760.4(CSF3R):c.555C>G (p.His185Gln)
|
|
|
|
NM_000760.4(CSF3R):c.559T>G (p.Cys187Gly)
|
|
|
|
NM_000760.4(CSF3R):c.569G>A (p.Arg190His)
|
|
|
|
NM_000760.4(CSF3R):c.576C>A (p.His192Gln)
|
|
|
|
NM_000760.4(CSF3R):c.57C>T (p.Leu19=)
|
|
|
|
NM_000760.4(CSF3R):c.581T>C (p.Leu194Pro)
|
|
|
|
NM_000760.4(CSF3R):c.612G>A (p.Gln204=)
|
|
|
|
NM_000760.4(CSF3R):c.617A>G (p.Glu206Gly)
|
|
|
|
NM_000760.4(CSF3R):c.618G>A (p.Glu206=)
|
rs113122356
|
|
|
NM_000760.4(CSF3R):c.622G>A (p.Ala208Thr)
|
|
|
|
NM_000760.4(CSF3R):c.623C>A (p.Ala208Glu)
|
|
|
|
NM_000760.4(CSF3R):c.624G>A (p.Ala208=)
|
|
|
|
NM_000760.4(CSF3R):c.62G>C (p.Gly21Ala)
|
rs2124152542
|
|
|
NM_000760.4(CSF3R):c.634A>G (p.Ser212Gly)
|
|
|
|
NM_000760.4(CSF3R):c.64+3G>A
|
|
|
|
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer)
|
rs2124127693
|
|
|
NM_000760.4(CSF3R):c.65-1G>A
|
|
|
|
NM_000760.4(CSF3R):c.65-2A>C
|
|
|
|
NM_000760.4(CSF3R):c.65-6C>A
|
|
|
|
NM_000760.4(CSF3R):c.65-8C>T
|
rs1322634596
|
|
|
NM_000760.4(CSF3R):c.664A>G (p.Met222Val)
|
rs1650909656
|
|
|
NM_000760.4(CSF3R):c.665T>C (p.Met222Thr)
|
|
|
|
NM_000760.4(CSF3R):c.673+12A>G
|
|
|
|
NM_000760.4(CSF3R):c.673+15G>A
|
|
|
|
NM_000760.4(CSF3R):c.673+4G>A
|
|
|
|
NM_000760.4(CSF3R):c.674-10C>T
|
|
|
|
NM_000760.4(CSF3R):c.674-15C>T
|
|
|
|
NM_000760.4(CSF3R):c.679C>T (p.Leu227=)
|
|
|
|
NM_000760.4(CSF3R):c.685C>T (p.Pro229Ser)
|
|
|
|
NM_000760.4(CSF3R):c.689C>T (p.Pro230Leu)
|
|
|
|
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
|
|
|
|
NM_000760.4(CSF3R):c.693G>A (p.Met231Ile)
|
rs1468169521
|
|
|
NM_000760.4(CSF3R):c.693G>T (p.Met231Ile)
|
rs1468169521
|
|
|
NM_000760.4(CSF3R):c.697C>T (p.Arg233Trp)
|
|
|
|
NM_000760.4(CSF3R):c.705G>A (p.Met235Ile)
|
|
|
|
NM_000760.4(CSF3R):c.713G>A (p.Ser238Asn)
|
|
|
|
NM_000760.4(CSF3R):c.723G>A (p.Ala241=)
|
rs202080839
|
|
|
NM_000760.4(CSF3R):c.734A>T (p.Gln245Leu)
|
|
|
|
NM_000760.4(CSF3R):c.739G>C (p.Gly247Arg)
|
rs1216927796
|
|
|
NM_000760.4(CSF3R):c.740G>C (p.Gly247Ala)
|
|
|
|
NM_000760.4(CSF3R):c.757T>G (p.Trp253Gly)
|
rs2124124183
|
|
|
NM_000760.4(CSF3R):c.762G>A (p.Glu254=)
|
|
|
|
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
|
|
|
|
NM_000760.4(CSF3R):c.787A>C (p.Asn263His)
|
rs2124124079
|
|
|
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter)
|
rs767458386
|
|
|
NM_000760.4(CSF3R):c.799G>A (p.Glu267Lys)
|
|
|
|
NM_000760.4(CSF3R):c.800A>T (p.Glu267Val)
|
rs758364103
|
|
|
NM_000760.4(CSF3R):c.805C>T (p.Arg269Cys)
|
rs2124123972
|
|
|
NM_000760.4(CSF3R):c.806G>A (p.Arg269His)
|
|
|
|
NM_000760.4(CSF3R):c.815C>A (p.Pro272Gln)
|
rs367774391
|
|
|
NM_000760.4(CSF3R):c.821G>A (p.Arg274His)
|
|
|
|
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter)
|
rs1650834725
|
|
|
NM_000760.4(CSF3R):c.839C>T (p.Ala280Val)
|
|
|
|
NM_000760.4(CSF3R):c.841C>T (p.Leu281=)
|
|
|
|
NM_000760.4(CSF3R):c.843+19T>A
|
|
|
|
NM_000760.4(CSF3R):c.843+19T>C
|
|
|
|
NM_000760.4(CSF3R):c.843+2T>C
|
rs1650834071
|
|
|
NM_000760.4(CSF3R):c.843+9G>A
|
|
|
|
NM_000760.4(CSF3R):c.844-8C>G
|
rs200218331
|
|
|
NM_000760.4(CSF3R):c.845T>A (p.Val282Glu)
|
|
|
|
NM_000760.4(CSF3R):c.873G>A (p.Gln291=)
|
|
|
|
NM_000760.4(CSF3R):c.886G>A (p.Gly296Arg)
|
|
|
|
NM_000760.4(CSF3R):c.886G>C (p.Gly296Arg)
|
|
|
|
NM_000760.4(CSF3R):c.891C>T (p.Leu297=)
|
|
|
|
NM_000760.4(CSF3R):c.896C>T (p.Pro299Leu)
|
rs1489427982
|
|
|
NM_000760.4(CSF3R):c.911C>A (p.Thr304Asn)
|
rs201991840
|
|
|
NM_000760.4(CSF3R):c.911C>G (p.Thr304Ser)
|
rs201991840
|
|
|
NM_000760.4(CSF3R):c.913C>G (p.Leu305Val)
|
|
|
|
NM_000760.4(CSF3R):c.918G>A (p.Gln306=)
|
|
|
|
NM_000760.4(CSF3R):c.922C>T (p.Arg308Cys)
|
rs606231473
|
|
|
NM_000760.4(CSF3R):c.927C>T (p.Cys309=)
|
rs1570588349
|
|
|
NM_000760.4(CSF3R):c.931C>T (p.Arg311Cys)
|
|
|
|
NM_000760.4(CSF3R):c.932G>A (p.Arg311His)
|
|
|
|
NM_000760.4(CSF3R):c.934T>C (p.Trp312Arg)
|
|
|
|
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer)
|
rs1570588220
|
|
|
NM_000760.4(CSF3R):c.937C>T (p.Pro313Ser)
|
rs1426986770
|
|
|
NM_000760.4(CSF3R):c.939C>G (p.Pro313=)
|
|
|
|
NM_000760.4(CSF3R):c.948_963del (p.His317fs)
|
rs606231475
|
|
|
NM_000760.4(CSF3R):c.957C>T (p.Ser319=)
|
|
|
|
NM_000760.4(CSF3R):c.964A>T (p.Ser322Cys)
|
|
|
|
NM_000760.4(CSF3R):c.967C>T (p.Pro323Ser)
|
rs1570588198
|
|
|
NM_000760.4(CSF3R):c.973C>G (p.Leu325Val)
|
rs559114400
|
|
|
NM_000760.4(CSF3R):c.987T>G (p.Thr329=)
|
|
|
|
NM_000760.4(CSF3R):c.98C>A (p.Ala33Asp)
|
|
|
|
NM_000760.4(CSF3R):c.990C>T (p.Thr330=)
|
|
|
|
NM_000760.4(CSF3R):c.995G>C (p.Arg332Pro)
|
|
|
|
NM_000760.4(CSF3R):c.997+13T>A
|
|
|
|
NM_000760.4(CSF3R):c.997+13T>C
|
|
|
|
NM_000760.4(CSF3R):c.998-18_998-17dup
|
|
|
|
NM_000760.4(CSF3R):c.998-19C>T
|
rs2124121672
|
|
|
NM_000760.4(CSF3R):c.998-1G>A
|
rs1248511242
|
|
|
NM_000760.4(CSF3R):c.998-2A>T
|
rs879253750
|
|
|
NM_000760.4(CSF3R):c.99C>A (p.Ala33=)
|
rs1557597747
|
|
|
NM_001098426.2(SMARCD2):c.1181+1G>A
|
rs1057518731
|
|
|
NM_001098426.2(SMARCD2):c.401+2T>C
|
rs1057518733
|
|
|
NM_001098426.2(SMARCD2):c.414_438dup (p.Gln147delinsGluAspGlyArgTer)
|
rs1555580263
|
|
|
NM_001161403.3(LIMS2):c.802+1G>A
|
rs112942895
|
|
|
NM_001164277.1(SLC37A4):c.529_533del
|
rs2089891548
|
|
|
NM_001164277.2(SLC37A4):c.*11G>A
|
rs978301169
|
|
|
NM_001164277.2(SLC37A4):c.*12G>A
|
rs1221264103
|
|
|
NM_001164277.2(SLC37A4):c.*1AG[2]
|
rs782195068
|
|
|
NM_001164277.2(SLC37A4):c.*5A>G
|
rs373050741
|
|
|
NM_001164277.2(SLC37A4):c.*5A>T
|
rs373050741
|
|
|
NM_001164277.2(SLC37A4):c.-10C>G
|
rs782655025
|
|
|
NM_001164277.2(SLC37A4):c.-13G>T
|
rs1555191914
|
|
|
NM_001164277.2(SLC37A4):c.-15C>T
|
rs1210959942
|
|
|
NM_001164277.2(SLC37A4):c.-16C>A
|
rs1555191915
|
|
|
NM_001164277.2(SLC37A4):c.-16C>G
|
rs1555191915
|
|
|
NM_001164277.2(SLC37A4):c.-2C>T
|
rs1318999121
|
|
|
NM_001164277.2(SLC37A4):c.-498G>T
|
rs1555192177
|
|
|
NM_001164277.2(SLC37A4):c.-504G>C
|
rs1045560610
|
|
|
NM_001164277.2(SLC37A4):c.-506A>G
|
rs1555192180
|
|
|
NM_001164277.2(SLC37A4):c.-528C>T
|
rs1555192184
|
|
|
NM_001164277.2(SLC37A4):c.-535G>A
|
rs138523194
|
|
|
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)
|
rs1326123837
|
|
|
NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=)
|
rs782726848
|
|
|
NM_001164277.2(SLC37A4):c.1011A>G (p.Val337=)
|
rs2134628485
|
|
|
NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1016G>A (p.Gly339Asp)
|
rs121908980
|
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
|
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)
|
rs938040106
|
|
|
NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=)
|
rs1555190535
|
|
|
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1026G>C (p.Ser342=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys)
|
rs1555190525
|
|
|
NM_001164277.2(SLC37A4):c.1028_1036delinsTGCCTCG (p.Tyr343fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=)
|
rs1555190521
|
|
|
NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met)
|
rs1555190517
|
|
|
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr)
|
rs1555190513
|
|
|
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val)
|
rs782533083
|
|
|
NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=)
|
rs1555190509
|
|
|
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro)
|
rs1210588522
|
|
|
NM_001164277.2(SLC37A4):c.1047T>C (p.Phe349=)
|
rs368615623
|
|
|
NM_001164277.2(SLC37A4):c.1049G>T (p.Gly350Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.1049_1052del (p.Gly350fs)
|
rs2134628172
|
|
|
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val)
|
rs1943524404
|
|
|
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr)
|
rs1342845276
|
|
|
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser)
|
rs1555190504
|
|
|
NM_001164277.2(SLC37A4):c.1063G>T (p.Glu355Ter)
|
rs121908975
|
|
|
NM_001164277.2(SLC37A4):c.1063_1064delinsAG (p.Glu355Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.1063_1064insTTGGG (p.Glu355fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1065del (p.Ser356fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1067G>C (p.Ser356Thr)
|
rs547488738
|
|
|
NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=)
|
rs1555190486
|
|
|
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1074T>C (p.Pro358=)
|
rs1592108548
|
|
|
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu)
|
rs1555190480
|
|
|
NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=)
|
rs1555190477
|
|
|
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser)
|
rs782182577
|
|
|
NM_001164277.2(SLC37A4):c.1079del (p.Asn360fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu)
|
rs781797026
|
|
|
NM_001164277.2(SLC37A4):c.1082del (p.Leu361fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1083G>A (p.Leu361=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1089C>T (p.Gly363=)
|
rs2134627864
|
|
|
NM_001164277.2(SLC37A4):c.108A>C (p.Pro36=)
|
rs1555191843
|
|
|
NM_001164277.2(SLC37A4):c.1095C>T (p.Ser365=)
|
rs2134627842
|
|
|
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=)
|
rs1555190455
|
|
|
NM_001164277.2(SLC37A4):c.1104T>C (p.Ile368=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1110_1117dup (p.Ala373fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1113C>T (p.Leu371=)
|
rs1592108432
|
|
|
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)
|
rs1555190443
|
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
|
NM_001164277.2(SLC37A4):c.111A>G (p.Ser37=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+12C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+17A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+1G>C
|
rs782630676
|
|
|
NM_001164277.2(SLC37A4):c.1124+20G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+26C>T
|
rs782811246
|
|
|
NM_001164277.2(SLC37A4):c.1124+34C>T
|
rs1555190425
|
|
|
NM_001164277.2(SLC37A4):c.1124+36C>A
|
rs547915912
|
|
|
NM_001164277.2(SLC37A4):c.1124+38C>G
|
rs1184172656
|
|
|
NM_001164277.2(SLC37A4):c.1124+38C>T
|
rs1184172656
|
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
|
NM_001164277.2(SLC37A4):c.1124+4A>C
|
|
|
|
NM_001164277.2(SLC37A4):c.1124+4A>G
|
rs1555190440
|
|
|
NM_001164277.2(SLC37A4):c.1124+51T>C
|
rs1555190420
|
|
|
NM_001164277.2(SLC37A4):c.1124+55G>A
|
rs1555190418
|
|
|
NM_001164277.2(SLC37A4):c.1124+57C>T
|
rs1555190417
|
|
|
NM_001164277.2(SLC37A4):c.1124+5G>A
|
rs2134627689
|
|
|
NM_001164277.2(SLC37A4):c.1124+7G>A
|
rs1555190438
|
|
|
NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-10C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-11C>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-12T>A
|
rs2134627316
|
|
|
NM_001164277.2(SLC37A4):c.1125-14T>C
|
rs1555190405
|
|
|
NM_001164277.2(SLC37A4):c.1125-15C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-1G>A
|
rs782202675
|
|
|
NM_001164277.2(SLC37A4):c.1125-3C>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-4A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-6T>G
|
rs782323567
|
|
|
NM_001164277.2(SLC37A4):c.1125-6del
|
rs1565686054
|
|
|
NM_001164277.2(SLC37A4):c.1125-7C>A
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-7dup
|
|
|
|
NM_001164277.2(SLC37A4):c.1125-8C>T
|
rs1555190404
|
|
|
NM_001164277.2(SLC37A4):c.1125-9C>T
|
rs1592108198
|
|
|
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp)
|
rs781962569
|
|
|
NM_001164277.2(SLC37A4):c.1134T>C (p.Phe378=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1135C>T (p.Leu379=)
|
rs962377661
|
|
|
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu)
|
rs1555190400
|
|
|
NM_001164277.2(SLC37A4):c.1149C>G (p.Pro383=)
|
rs2134627010
|
|
|
NM_001164277.2(SLC37A4):c.1149del (p.Phe384fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu)
|
rs1555190399
|
|
|
NM_001164277.2(SLC37A4):c.1152C>T (p.Phe384=)
|
rs1943511879
|
|
|
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr)
|
rs782603818
|
|
|
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg)
|
rs1440498520
|
|
|
NM_001164277.2(SLC37A4):c.1158C>A (p.Thr386=)
|
rs1943511456
|
|
|
NM_001164277.2(SLC37A4):c.1158C>T (p.Thr386=)
|
rs1943511456
|
|
|
NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)
|
rs1464199067
|
|
|
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu)
|
rs1555190395
|
|
|
NM_001164277.2(SLC37A4):c.1167G>A (p.Lys389=)
|
rs1943511012
|
|
|
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1172_1173insT (p.Ser392fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)
|
rs1555190394
|
|
|
NM_001164277.2(SLC37A4):c.1175del (p.Ser392fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)
|
rs782552989
|
|
|
NM_001164277.2(SLC37A4):c.1176T>C (p.Ser392=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
|
NM_001164277.2(SLC37A4):c.1178G>A (p.Trp393Ter)
|
rs2134626765
|
|
|
NM_001164277.2(SLC37A4):c.117G>T (p.Val39=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=)
|
rs1555190388
|
|
|
NM_001164277.2(SLC37A4):c.1190del (p.Phe397fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)
|
rs1555190381
|
|
|
NM_001164277.2(SLC37A4):c.1197G>C (p.Val399=)
|
rs2134626678
|
|
|
NM_001164277.2(SLC37A4):c.11del (p.Gln4fs)
|
rs2134644472
|
|
|
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln)
|
rs1555190378
|
|
|
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)
|
|
|
|
NM_001164277.2(SLC37A4):c.1201del (p.Glu401fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.1206G>A (p.Val402=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1206G>T (p.Val402=)
|
rs781909798
|
|
|
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)
|
rs781818280
|
|
|
NM_001164277.2(SLC37A4):c.1212T>A (p.Cys404Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.1221C>T (p.Ser407=)
|
rs1592107877
|
|
|
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)
|
rs886047748
|
|
|
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)
|
rs782470624
|
|
|
NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)
|
rs1555190367
|
|
|
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro)
|
rs1555190359
|
|
|
NM_001164277.2(SLC37A4):c.1242A>G (p.Leu414=)
|
rs2134626404
|
|
|
NM_001164277.2(SLC37A4):c.1248C>T (p.Asn416=)
|
rs2134626360
|
|
|
NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile)
|
rs782594411
|
|
|
NM_001164277.2(SLC37A4):c.1257C>T (p.Thr419=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu)
|
rs890913792
|
|
|
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser)
|
rs1555190347
|
|
|
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala)
|
rs2134626279
|
|
|
NM_001164277.2(SLC37A4):c.1267C>T (p.Arg423Ter)
|
rs2134626266
|
|
|
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu)
|
rs781849575
|
|
|
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu)
|
rs1438944888
|
|
|
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)
|
|
|
|
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala)
|
rs781846380
|
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
|
NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=)
|
rs782137743
|
|
|
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val)
|
rs1245752008
|
|
|
NM_001164277.2(SLC37A4):c.1287G>A (p.Glu429=)
|
|
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
|
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)
|
rs1592107594
|
|
|
NM_001164277.2(SLC37A4):c.1289G>A (p.Ter430=)
|
|
|
|
NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.135C>T (p.Asp45=)
|
rs1943673151
|
|
|
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.138G>A (p.Lys46=)
|
rs1555191835
|
|
|
NM_001164277.2(SLC37A4):c.139G>C (p.Asp47His)
|
rs1943672924
|
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
|
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3])
|
rs782663171
|
|
|
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly)
|
rs1555191832
|
|
|
NM_001164277.2(SLC37A4):c.141T>C (p.Asp47=)
|
rs373540523
|
|
|
NM_001164277.2(SLC37A4):c.148+16G>A
|
rs2134643318
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>A
|
rs1943672400
|
|
|
NM_001164277.2(SLC37A4):c.148+1G>T
|
rs1943672400
|
|
|
NM_001164277.2(SLC37A4):c.148+20G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>A
|
|
|
|
NM_001164277.2(SLC37A4):c.148+2T>C
|
rs1449998297
|
|
|
NM_001164277.2(SLC37A4):c.148+4A>G
|
rs1943672237
|
|
|
NM_001164277.2(SLC37A4):c.148+6C>T
|
rs1565691594
|
|
|
NM_001164277.2(SLC37A4):c.148+7_148+8del
|
|
|
|
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.149-11G>A
|
rs1555191644
|
|
|
NM_001164277.2(SLC37A4):c.149-17T>C
|
|
|
|
NM_001164277.2(SLC37A4):c.149-18G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.149-20A>G
|
rs1555191648
|
|
|
NM_001164277.2(SLC37A4):c.149-21T>G
|
rs1555191649
|
|
|
NM_001164277.2(SLC37A4):c.149-22C>T
|
rs369353938
|
|
|
NM_001164277.2(SLC37A4):c.149-2A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.149-35del
|
rs1555191655
|
|
|
NM_001164277.2(SLC37A4):c.149-6del
|
rs2134640825
|
|
|
NM_001164277.2(SLC37A4):c.149-8C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.149-9T>C
|
|
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
|
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val)
|
rs193302877
|
|
|
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp)
|
rs2134644442
|
|
|
NM_001164277.2(SLC37A4):c.150G>C (p.Gly50=)
|
rs202137454
|
|
|
NM_001164277.2(SLC37A4):c.152TCA[1] (p.Ile52del)
|
rs1943642881
|
|
|
NM_001164277.2(SLC37A4):c.153C>T (p.Phe51=)
|
rs1352116986
|
|
|
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu)
|
rs1565690903
|
|
|
NM_001164277.2(SLC37A4):c.156C>T (p.Ile52=)
|
|
|
|
NM_001164277.2(SLC37A4):c.159C>G (p.Thr53=)
|
rs2134640708
|
|
|
NM_001164277.2(SLC37A4):c.15C>G (p.Gly5=)
|
rs1555191904
|
|
|
NM_001164277.2(SLC37A4):c.15C>T (p.Gly5=)
|
rs1555191904
|
|
|
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly)
|
rs1555191637
|
|
|
NM_001164277.2(SLC37A4):c.163A>C (p.Ser55Arg)
|
rs193302884
|
|
|
NM_001164277.2(SLC37A4):c.165C>T (p.Ser55=)
|
rs782548085
|
|
|
NM_001164277.2(SLC37A4):c.169_175del (p.Ser57fs)
|
rs782501672
|
|
|
NM_001164277.2(SLC37A4):c.170C>A (p.Ser57Ter)
|
rs374848317
|
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
|
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His)
|
rs1555191626
|
|
|
NM_001164277.2(SLC37A4):c.180T>C (p.Tyr60=)
|
|
|
|
NM_001164277.2(SLC37A4):c.180T>G (p.Tyr60Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val)
|
rs1555191625
|
|
|
NM_001164277.2(SLC37A4):c.188_189delinsT (p.Ser63fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg)
|
rs1359256648
|
|
|
NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.195T>C (p.Phe65=)
|
|
|
|
NM_001164277.2(SLC37A4):c.195dup (p.Val66fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.202G>A (p.Gly68Arg)
|
rs193302885
|
|
|
NM_001164277.2(SLC37A4):c.207G>A (p.Val69=)
|
rs1295497535
|
|
|
NM_001164277.2(SLC37A4):c.210G>T (p.Leu70=)
|
rs2134640432
|
|
|
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.217C>T (p.Gln73Ter)
|
rs1555191604
|
|
|
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr)
|
rs1555191603
|
|
|
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro)
|
rs948802122
|
|
|
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)
|
rs782429783
|
|
|
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser)
|
rs1417623185
|
|
|
NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)
|
|
|
|
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)
|
|
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
|
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.233G>A (p.Trp78Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)
|
rs781857990
|
|
|
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu)
|
rs1191615872
|
|
|
NM_001164277.2(SLC37A4):c.240C>T (p.Phe80=)
|
|
|
|
NM_001164277.2(SLC37A4):c.243T>G (p.Ser81=)
|
|
|
|
NM_001164277.2(SLC37A4):c.248G>A (p.Gly83Glu)
|
rs2134640168
|
|
|
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)
|
|
|
|
NM_001164277.2(SLC37A4):c.255C>A (p.Leu85=)
|
rs2134640137
|
|
|
NM_001164277.2(SLC37A4):c.258G>A (p.Leu86=)
|
rs1555191590
|
|
|
NM_001164277.2(SLC37A4):c.258G>C (p.Leu86=)
|
rs1555191590
|
|
|
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val)
|
rs193302886
|
|
|
NM_001164277.2(SLC37A4):c.264C>A (p.Gly88=)
|
rs782292086
|
|
|
NM_001164277.2(SLC37A4):c.267G>A (p.Leu89=)
|
rs2134640047
|
|
|
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile)
|
rs1555191582
|
|
|
NM_001164277.2(SLC37A4):c.269_270insTGGCTCCTGGT (p.Asn91fs)
|
rs1555191580
|
|
|
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)
|
rs1280285676
|
|
|
NM_001164277.2(SLC37A4):c.276dup (p.Phe93fs)
|
rs1555191573
|
|
|
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr)
|
rs782563826
|
|
|
NM_001164277.2(SLC37A4):c.279del (p.Phe94fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.27T>C (p.Tyr9=)
|
rs2134644380
|
|
|
NM_001164277.2(SLC37A4):c.282T>C (p.Phe94=)
|
rs1555191568
|
|
|
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu)
|
rs1555191568
|
|
|
NM_001164277.2(SLC37A4):c.285C>G (p.Ala95=)
|
rs2134639947
|
|
|
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly)
|
rs546577012
|
|
|
NM_001164277.2(SLC37A4):c.291C>T (p.Ser97=)
|
rs561054469
|
|
|
NM_001164277.2(SLC37A4):c.294del (p.Thr99fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu)
|
rs1555191550
|
|
|
NM_001164277.2(SLC37A4):c.303T>C (p.Pro101=)
|
rs782803340
|
|
|
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu)
|
rs1171686379
|
|
|
NM_001164277.2(SLC37A4):c.312T>C (p.Ala104=)
|
rs2134639818
|
|
|
NM_001164277.2(SLC37A4):c.318C>G (p.Leu106=)
|
rs11552540
|
|
|
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro)
|
rs1399227780
|
|
|
NM_001164277.2(SLC37A4):c.320G>A (p.Trp107Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.330T>C (p.Asn110=)
|
|
|
|
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)
|
rs1356550790
|
|
|
NM_001164277.2(SLC37A4):c.334C>T (p.Leu112=)
|
|
|
|
NM_001164277.2(SLC37A4):c.335dup (p.Ala113fs)
|
rs2134639714
|
|
|
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)
|
|
|
|
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)
|
rs1376674013
|
|
|
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
|
|
|
|
NM_001164277.2(SLC37A4):c.344_345dup (p.Leu116fs)
|
rs782604758
|
|
|
NM_001164277.2(SLC37A4):c.345G>A (p.Gly115=)
|
rs782188658
|
|
|
NM_001164277.2(SLC37A4):c.345G>T (p.Gly115=)
|
rs782188658
|
|
|
NM_001164277.2(SLC37A4):c.345dup (p.Leu116fs)
|
rs782604758
|
|
|
NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)
|
|
|
|
NM_001164277.2(SLC37A4):c.348G>A (p.Leu116=)
|
rs1555191533
|
|
|
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.351C>T (p.Gly117=)
|
rs1311198538
|
|
|
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser)
|
rs1158229491
|
|
|
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.356_359dup (p.Cys121fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser)
|
rs1045954164
|
|
|
NM_001164277.2(SLC37A4):c.359dup (p.Cys121fs)
|
rs1182102272
|
|
|
NM_001164277.2(SLC37A4):c.360A>G (p.Pro120=)
|
rs1555191522
|
|
|
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg)
|
rs1254956942
|
|
|
NM_001164277.2(SLC37A4):c.365G>A (p.Gly122Glu)
|
|
|
|
NM_001164277.2(SLC37A4):c.366G>A (p.Gly122=)
|
rs1555191518
|
|
|
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr)
|
rs1555191517
|
|
|
NM_001164277.2(SLC37A4):c.369G>A (p.Lys123=)
|
rs1218213940
|
|
|
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.370del (p.Val124fs)
|
rs1555191512
|
|
|
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp)
|
rs1555191510
|
|
|
NM_001164277.2(SLC37A4):c.372C>T (p.Val124=)
|
rs137940481
|
|
|
NM_001164277.2(SLC37A4):c.375G>A (p.Leu125=)
|
|
|
|
NM_001164277.2(SLC37A4):c.381+18G>T
|
|
|
|
NM_001164277.2(SLC37A4):c.381+1G>A
|
rs786204637
|
|
|
NM_001164277.2(SLC37A4):c.381+1G>T
|
rs786204637
|
|
|
NM_001164277.2(SLC37A4):c.381+4A>G
|
rs1555191499
|
|
|
NM_001164277.2(SLC37A4):c.381+5G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.381+8C>T
|
rs782284449
|
|
|
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=)
|
rs1315203966
|
|
|
NM_001164277.2(SLC37A4):c.382-15C>T
|
rs1555191417
|
|
|
NM_001164277.2(SLC37A4):c.382-19G>T
|
rs1380601197
|
|
|
NM_001164277.2(SLC37A4):c.382-1G>T
|
|
|
|
NM_001164277.2(SLC37A4):c.382-1del
|
rs1555191406
|
|
|
NM_001164277.2(SLC37A4):c.382-20T>G
|
|
|
|
NM_001164277.2(SLC37A4):c.382-2A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.382-3C>G
|
rs1555191407
|
|
|
NM_001164277.2(SLC37A4):c.382-5C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.382-6C>T
|
rs756248657
|
|
|
NM_001164277.2(SLC37A4):c.382-7C>T
|
rs2134638535
|
|
|
NM_001164277.2(SLC37A4):c.382-8C>T
|
rs2134638543
|
|
|
NM_001164277.2(SLC37A4):c.382-9G>C
|
rs985534169
|
|
|
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg)
|
rs1555191405
|
|
|
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly)
|
rs1555191405
|
|
|
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)
|
rs1555191401
|
|
|
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala)
|
rs1465764979
|
|
|
NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp)
|
rs752687782
|
|
|
NM_001164277.2(SLC37A4):c.398dup (p.Phe134fs)
|
rs2134638421
|
|
|
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His)
|
rs767772187
|
|
|
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu)
|
rs1555191386
|
|
|
NM_001164277.2(SLC37A4):c.405C>T (p.Gly135=)
|
rs377452076
|
|
|
NM_001164277.2(SLC37A4):c.410G>A (p.Trp137Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.413G>A (p.Trp138Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.417C>T (p.Ala139=)
|
rs2134638267
|
|
|
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met)
|
rs2134638252
|
|
|
NM_001164277.2(SLC37A4):c.420C>T (p.Ile140=)
|
|
|
|
NM_001164277.2(SLC37A4):c.421C>T (p.Leu141=)
|
|
|
|
NM_001164277.2(SLC37A4):c.421del (p.Leu141fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln)
|
rs1555191378
|
|
|
NM_001164277.2(SLC37A4):c.423G>C (p.Leu141=)
|
rs766732034
|
|
|
NM_001164277.2(SLC37A4):c.423G>T (p.Leu141=)
|
rs766732034
|
|
|
NM_001164277.2(SLC37A4):c.429C>T (p.Thr143=)
|
rs1250941400
|
|
|
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly)
|
rs1555191372
|
|
|
NM_001164277.2(SLC37A4):c.447A>G (p.Gly149=)
|
rs2134638161
|
|
|
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)
|
rs1555191883
|
|
|
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro)
|
rs1555191353
|
|
|
NM_001164277.2(SLC37A4):c.459T>A (p.Pro153=)
|
rs1555191349
|
|
|
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)
|
rs1555191880
|
|
|
NM_001164277.2(SLC37A4):c.45A>T (p.Ser15=)
|
rs1555191880
|
|
|
NM_001164277.2(SLC37A4):c.463C>T (p.Leu155=)
|
rs1395373487
|
|
|
NM_001164277.2(SLC37A4):c.468A>G (p.Ala156=)
|
rs1395094300
|
|
|
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr)
|
rs1555191879
|
|
|
NM_001164277.2(SLC37A4):c.471C>T (p.Thr157=)
|
rs775227522
|
|
|
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)
|
|
|
|
NM_001164277.2(SLC37A4):c.483G>A (p.Gln161=)
|
rs2134637952
|
|
|
NM_001164277.2(SLC37A4):c.484_485del (p.Ser162fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg)
|
rs369399624
|
|
|
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)
|
rs369399624
|
|
|
NM_001164277.2(SLC37A4):c.494G>A (p.Trp165Ter)
|
rs1943618079
|
|
|
NM_001164277.2(SLC37A4):c.494delinsACA (p.Trp165fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.495G>A (p.Trp165Ter)
|
rs1233639372
|
|
|
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup)
|
rs2134637839
|
|
|
NM_001164277.2(SLC37A4):c.497_509del (p.Arg166fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)
|
rs1555191907
|
|
|
NM_001164277.2(SLC37A4):c.504G>T (p.Thr168=)
|
|
|
|
NM_001164277.2(SLC37A4):c.507G>C (p.Leu169=)
|
|
|
|
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr)
|
rs1397362093
|
|
|
NM_001164277.2(SLC37A4):c.519G>T (p.Gly173=)
|
|
|
|
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)
|
rs1432294427
|
|
|
NM_001164277.2(SLC37A4):c.522A>C (p.Ala174=)
|
rs369409989
|
|
|
NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.525G>C (p.Leu175=)
|
rs1010838306
|
|
|
NM_001164277.2(SLC37A4):c.527= (p.Cys176=)
|
rs56966114
|
|
|
NM_001164277.2(SLC37A4):c.528_530del (p.Cys176_Val177delinsTrp)
|
rs2134637643
|
|
|
NM_001164277.2(SLC37A4):c.529del (p.Val177fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.530_531dup (p.Val178fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.531G>T (p.Val177=)
|
|
|
|
NM_001164277.2(SLC37A4):c.537C>T (p.Val179=)
|
rs1780828602
|
|
|
NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.543C>T (p.Phe181=)
|
rs760217061
|
|
|
NM_001164277.2(SLC37A4):c.547T>C (p.Cys183Arg)
|
rs193302893
|
|
|
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe)
|
rs1555191258
|
|
|
NM_001164277.2(SLC37A4):c.552C>A (p.Leu184=)
|
rs1300746467
|
|
|
NM_001164277.2(SLC37A4):c.553C>T (p.Leu185=)
|
|
|
|
NM_001164277.2(SLC37A4):c.555G>C (p.Leu185=)
|
rs891986567
|
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
|
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His)
|
rs1943614259
|
|
|
NM_001164277.2(SLC37A4):c.55G>C (p.Gly19Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)
|
rs1452797070
|
|
|
NM_001164277.2(SLC37A4):c.561C>A (p.Ile187=)
|
rs1555191248
|
|
|
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp)
|
rs1555191237
|
|
|
NM_001164277.2(SLC37A4):c.572C>T (p.Pro191Leu)
|
rs193302888
|
|
|
NM_001164277.2(SLC37A4):c.576T>C (p.Ala192=)
|
rs1555191231
|
|
|
NM_001164277.2(SLC37A4):c.576dup (p.Asp193Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe)
|
rs1041686986
|
|
|
NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)
|
|
|
|
NM_001164277.2(SLC37A4):c.588C>T (p.Leu196=)
|
rs1555191222
|
|
|
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)
|
|
|
|
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys)
|
rs2134644210
|
|
|
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.593del (p.Asn198fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.595C>T (p.Leu199=)
|
rs1565689217
|
|
|
NM_001164277.2(SLC37A4):c.595del (p.Leu199fs)
|
rs1474282972
|
|
|
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg)
|
rs2134637316
|
|
|
NM_001164277.2(SLC37A4):c.597G>A (p.Leu199=)
|
rs750870724
|
|
|
NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)
|
|
|
|
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala)
|
rs193302881
|
|
|
NM_001164277.2(SLC37A4):c.59dup (p.Tyr21fs)
|
rs1943676862
|
|
|
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu)
|
rs1565689207
|
|
|
NM_001164277.2(SLC37A4):c.603C>T (p.Pro201=)
|
rs368398459
|
|
|
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile)
|
rs764654621
|
|
|
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr)
|
rs534894133
|
|
|
NM_001164277.2(SLC37A4):c.60C>A (p.Gly20=)
|
|
|
|
NM_001164277.2(SLC37A4):c.60C>T (p.Gly20=)
|
|
|
|
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys)
|
rs567419206
|
|
|
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)
|
rs567419206
|
|
|
NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)
|
|
|
|
NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)
|
|
|
|
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)
|
rs1943676569
|
|
|
NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.625G>A (p.Gly209Ser)
|
rs1272300904
|
|
|
NM_001164277.2(SLC37A4):c.626+10C>A
|
rs757924969
|
|
|
NM_001164277.2(SLC37A4):c.626+10C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.626+10C>T
|
rs757924969
|
|
|
NM_001164277.2(SLC37A4):c.626+10del
|
|
|
|
NM_001164277.2(SLC37A4):c.626+11A>T
|
rs747150144
|
|
|
NM_001164277.2(SLC37A4):c.626+15A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.626+16G>A
|
rs74673344
|
|
|
NM_001164277.2(SLC37A4):c.626+16G>C
|
rs74673344
|
|
|
NM_001164277.2(SLC37A4):c.626+30G>A
|
rs1555191200
|
|
|
NM_001164277.2(SLC37A4):c.626+35C>G
|
rs1555191199
|
|
|
NM_001164277.2(SLC37A4):c.626+4A>C
|
rs770644132
|
|
|
NM_001164277.2(SLC37A4):c.626+5G>A
|
rs1943610138
|
|
|
NM_001164277.2(SLC37A4):c.626+6C>T
|
rs762685017
|
|
|
NM_001164277.2(SLC37A4):c.626+7C>T
|
rs1555191207
|
|
|
NM_001164277.2(SLC37A4):c.626+8C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-11C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-12T>C
|
rs1555191134
|
|
|
NM_001164277.2(SLC37A4):c.627-16C>G
|
rs1011663035
|
|
|
NM_001164277.2(SLC37A4):c.627-16C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-20C>T
|
rs1191557410
|
|
|
NM_001164277.2(SLC37A4):c.627-3C>T
|
rs1349289897
|
|
|
NM_001164277.2(SLC37A4):c.627-6C>T
|
rs782514947
|
|
|
NM_001164277.2(SLC37A4):c.627-7C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627-8A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.627-9C>T
|
|
|
|
NM_001164277.2(SLC37A4):c.627C>T (p.Gly209=)
|
|
|
|
NM_001164277.2(SLC37A4):c.633G>A (p.Leu211=)
|
rs2134635379
|
|
|
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del)
|
rs782141145
|
|
|
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del)
|
rs1555191121
|
|
|
NM_001164277.2(SLC37A4):c.637del (p.Glu213fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.63C>T (p.Tyr21=)
|
rs1257759060
|
|
|
NM_001164277.2(SLC37A4):c.645C>T (p.Ser215=)
|
|
|
|
NM_001164277.2(SLC37A4):c.648C>T (p.Thr216=)
|
|
|
|
NM_001164277.2(SLC37A4):c.649C>T (p.Leu217=)
|
rs1555191117
|
|
|
NM_001164277.2(SLC37A4):c.649delinsGG (p.Leu217fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg)
|
rs782005026
|
|
|
NM_001164277.2(SLC37A4):c.664C>T (p.Leu222=)
|
|
|
|
NM_001164277.2(SLC37A4):c.666G>C (p.Leu222=)
|
rs1943590147
|
|
|
NM_001164277.2(SLC37A4):c.669C>T (p.Ser223=)
|
|
|
|
NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.66C>T (p.Ser22=)
|
rs2134644140
|
|
|
NM_001164277.2(SLC37A4):c.671dup (p.Tyr225fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.675C>A (p.Tyr225Ter)
|
rs996440530
|
|
|
NM_001164277.2(SLC37A4):c.676del (p.Leu226fs)
|
rs1555191105
|
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
|
NM_001164277.2(SLC37A4):c.680G>A (p.Trp227Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser)
|
rs1555191101
|
|
|
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)
|
rs2134635160
|
|
|
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met)
|
rs782167890
|
|
|
NM_001164277.2(SLC37A4):c.684G>A (p.Val228=)
|
rs925741468
|
|
|
NM_001164277.2(SLC37A4):c.686del (p.Leu229fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.690C>G (p.Ser230=)
|
rs782333619
|
|
|
NM_001164277.2(SLC37A4):c.690C>T (p.Ser230=)
|
rs782333619
|
|
|
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)
|
|
|
|
NM_001164277.2(SLC37A4):c.702T>G (p.Leu234=)
|
|
|
|
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)
|
rs141105181
|
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
|
NM_001164277.2(SLC37A4):c.708G>A (p.Val236=)
|
rs1223570543
|
|
|
NM_001164277.2(SLC37A4):c.708_709dup (p.Phe237fs)
|
rs781869215
|
|
|
NM_001164277.2(SLC37A4):c.70T>C (p.Tyr24His)
|
rs193302887
|
|
|
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)
|
rs1295327218
|
|
|
NM_001164277.2(SLC37A4):c.713del (p.Gly238fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile)
|
rs1555191080
|
|
|
NM_001164277.2(SLC37A4):c.717A>C (p.Val239=)
|
|
|
|
NM_001164277.2(SLC37A4):c.71_74dup (p.Tyr25Ter)
|
rs2134644045
|
|
|
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala)
|
rs1555191079
|
|
|
NM_001164277.2(SLC37A4):c.721dup (p.Thr241fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.723C>G (p.Thr241=)
|
rs782547500
|
|
|
NM_001164277.2(SLC37A4):c.723C>T (p.Thr241=)
|
rs782547500
|
|
|
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)
|
|
|
|
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser)
|
rs1555191077
|
|
|
NM_001164277.2(SLC37A4):c.726C>A (p.Cys242Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr)
|
rs1555191076
|
|
|
NM_001164277.2(SLC37A4):c.736T>C (p.Trp246Arg)
|
rs193302878
|
|
|
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp)
|
rs1345697523
|
|
|
NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)
|
|
|
|
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu)
|
rs782584884
|
|
|
NM_001164277.2(SLC37A4):c.747C>T (p.Phe249=)
|
rs782584884
|
|
|
NM_001164277.2(SLC37A4):c.74_77del (p.Tyr25fs)
|
rs1447366650
|
|
|
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val)
|
rs2134634814
|
|
|
NM_001164277.2(SLC37A4):c.751dup (p.Leu251fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.752T>C (p.Leu251Pro)
|
rs1565688326
|
|
|
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys)
|
rs1555191060
|
|
|
NM_001164277.2(SLC37A4):c.762G>A (p.Glu254=)
|
rs782774153
|
|
|
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.774A>C (p.Ser258=)
|
|
|
|
NM_001164277.2(SLC37A4):c.778del (p.Leu260_Val261insTer)
|
|
|
|
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg)
|
rs1555191054
|
|
|
NM_001164277.2(SLC37A4):c.780T>C (p.Leu260=)
|
rs1555191052
|
|
|
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu)
|
rs1565688245
|
|
|
NM_001164277.2(SLC37A4):c.785+15G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.785+19C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.785+2T>G
|
rs1592111559
|
|
|
NM_001164277.2(SLC37A4):c.785+8G>A
|
rs782075266
|
|
|
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala)
|
rs782692832
|
|
|
NM_001164277.2(SLC37A4):c.786-17A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.786-18_786-16del
|
rs1555191005
|
|
|
NM_001164277.2(SLC37A4):c.786-1G>A
|
rs1943578039
|
|
|
NM_001164277.2(SLC37A4):c.786-20A>G
|
rs1555191008
|
|
|
NM_001164277.2(SLC37A4):c.786-22_786-13del
|
|
|
|
NM_001164277.2(SLC37A4):c.786-2A>C
|
|
|
|
NM_001164277.2(SLC37A4):c.786-2A>G
|
rs2134633880
|
|
|
NM_001164277.2(SLC37A4):c.786-3_787del
|
rs2134633858
|
|
|
NM_001164277.2(SLC37A4):c.786-6C>T
|
rs2134633894
|
|
|
NM_001164277.2(SLC37A4):c.786T>A (p.Gly262=)
|
rs2134633851
|
|
|
NM_001164277.2(SLC37A4):c.788G>A (p.Ser263Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.78C>T (p.Phe26=)
|
rs1943675742
|
|
|
NM_001164277.2(SLC37A4):c.792C>T (p.Ser264=)
|
|
|
|
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)
|
|
|
|
NM_001164277.2(SLC37A4):c.795C>G (p.Tyr265Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.795C>T (p.Tyr265=)
|
rs2134633831
|
|
|
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.796_797del (p.Met266fs)
|
rs1592111172
|
|
|
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val)
|
rs1029013255
|
|
|
NM_001164277.2(SLC37A4):c.804C>T (p.Ala268=)
|
rs1468281804
|
|
|
NM_001164277.2(SLC37A4):c.805del (p.Leu269fs)
|
rs1555190992
|
|
|
NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)
|
|
|
|
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile)
|
rs1226267943
|
|
|
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly)
|
rs2134633732
|
|
|
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala)
|
rs1350014866
|
|
|
NM_001164277.2(SLC37A4):c.834C>A (p.Ile278=)
|
|
|
|
NM_001164277.2(SLC37A4):c.838G>C (p.Ala280Pro)
|
rs1555190969
|
|
|
NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.845_848del (p.Tyr282fs)
|
rs1555190956
|
|
|
NM_001164277.2(SLC37A4):c.847C>T (p.Leu283=)
|
|
|
|
NM_001164277.2(SLC37A4):c.852A>G (p.Ser284=)
|
|
|
|
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu)
|
rs1943675245
|
|
|
NM_001164277.2(SLC37A4):c.861C>T (p.Ala287=)
|
rs782246067
|
|
|
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val)
|
rs1555190944
|
|
|
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val)
|
rs1555190938
|
|
|
NM_001164277.2(SLC37A4):c.867A>C (p.Ala289=)
|
rs1555190933
|
|
|
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn)
|
rs1555190931
|
|
|
NM_001164277.2(SLC37A4):c.871+15G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.871+17G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.871+19C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.871+19C>T
|
rs782487764
|
|
|
NM_001164277.2(SLC37A4):c.871+1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.871+1G>T
|
rs1943574435
|
|
|
NM_001164277.2(SLC37A4):c.871+5G>A
|
rs1250046397
|
|
|
NM_001164277.2(SLC37A4):c.871+6C>G
|
rs377101167
|
|
|
NM_001164277.2(SLC37A4):c.871+7G>C
|
rs782177602
|
|
|
NM_001164277.2(SLC37A4):c.871+8G>C
|
rs2134633461
|
|
|
NM_001164277.2(SLC37A4):c.872-10G>A
|
rs1555190776
|
|
|
NM_001164277.2(SLC37A4):c.872-12C>T
|
rs200279011
|
|
|
NM_001164277.2(SLC37A4):c.872-15_872-9dup
|
rs782321213
|
|
|
NM_001164277.2(SLC37A4):c.872-17C>T
|
rs1286218803
|
|
|
NM_001164277.2(SLC37A4):c.872-1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.872-2A>C
|
rs920196110
|
|
|
NM_001164277.2(SLC37A4):c.872-4A>C
|
|
|
|
NM_001164277.2(SLC37A4):c.872-4A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.872-7_873dup
|
|
|
|
NM_001164277.2(SLC37A4):c.872-8A>G
|
|
|
|
NM_001164277.2(SLC37A4):c.872-8_881del
|
|
|
|
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly)
|
rs200147602
|
|
|
NM_001164277.2(SLC37A4):c.872C>T (p.Ala291Val)
|
rs200147602
|
|
|
NM_001164277.2(SLC37A4):c.873G>A (p.Ala291=)
|
rs974857648
|
|
|
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg)
|
rs1320796917
|
|
|
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met)
|
rs1555190769
|
|
|
NM_001164277.2(SLC37A4):c.879G>A (p.Leu293=)
|
|
|
|
NM_001164277.2(SLC37A4):c.879G>C (p.Leu293=)
|
rs1555190765
|
|
|
NM_001164277.2(SLC37A4):c.87G>A (p.Lys29=)
|
rs1171604521
|
|
|
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)
|
|
|
|
NM_001164277.2(SLC37A4):c.882dup (p.Asn295fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser)
|
rs1555190764
|
|
|
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His)
|
rs763008231
|
|
|
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)
|
rs1943560243
|
|
|
NM_001164277.2(SLC37A4):c.891G>A (p.Gly297=)
|
rs1388277495
|
|
|
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)
|
rs1388277495
|
|
|
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)
|
|
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
|
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn)
|
rs987244110
|
|
|
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)
|
|
|
|
NM_001164277.2(SLC37A4):c.900C>T (p.Arg300=)
|
rs2134631794
|
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
|
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)
|
|
|
|
NM_001164277.2(SLC37A4):c.902A>C (p.His301Pro)
|
rs193302891
|
|
|
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser)
|
rs1555190753
|
|
|
NM_001164277.2(SLC37A4):c.906C>A (p.Gly302=)
|
rs374287329
|
|
|
NM_001164277.2(SLC37A4):c.907C>T (p.Leu303=)
|
rs1555190749
|
|
|
NM_001164277.2(SLC37A4):c.909G>A (p.Leu303=)
|
rs1555190747
|
|
|
NM_001164277.2(SLC37A4):c.912_913insGC (p.Leu305fs)
|
rs1555190745
|
|
|
NM_001164277.2(SLC37A4):c.913C>T (p.Leu305=)
|
rs1555190743
|
|
|
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr)
|
rs1555190739
|
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
|
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr)
|
rs1335122136
|
|
|
NM_001164277.2(SLC37A4):c.925_928delinsTC (p.Ala309fs)
|
rs2134631556
|
|
|
NM_001164277.2(SLC37A4):c.925del (p.Ala309fs)
|
rs2134631619
|
|
|
NM_001164277.2(SLC37A4):c.927del (p.Gly310fs)
|
rs1943557200
|
|
|
NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.929del (p.Gly310fs)
|
rs1943556915
|
|
|
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr)
|
rs1555191854
|
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
|
NM_001164277.2(SLC37A4):c.935_936del (p.Thr312fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met)
|
rs1555190726
|
|
|
NM_001164277.2(SLC37A4):c.939G>A (p.Val313=)
|
rs782577230
|
|
|
NM_001164277.2(SLC37A4):c.939G>C (p.Val313=)
|
rs782577230
|
|
|
NM_001164277.2(SLC37A4):c.942C>T (p.Ser314=)
|
rs1555190722
|
|
|
NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)
|
|
|
|
NM_001164277.2(SLC37A4):c.945_964del (p.Met315fs)
|
rs1943554287
|
|
|
NM_001164277.2(SLC37A4):c.948C>T (p.Tyr316=)
|
|
|
|
NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)
|
|
|
|
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro)
|
rs782703235
|
|
|
NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)
|
|
|
|
NM_001164277.2(SLC37A4):c.957G>A (p.Arg319=)
|
rs973616226
|
|
|
NM_001164277.2(SLC37A4):c.957G>C (p.Arg319=)
|
rs973616226
|
|
|
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile)
|
rs1168556886
|
|
|
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)
|
rs1168556886
|
|
|
NM_001164277.2(SLC37A4):c.958del (p.Arg319_Val320insTer)
|
rs1943554955
|
|
|
NM_001164277.2(SLC37A4):c.95_97del (p.Ser32del)
|
|
|
|
NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.962_963del (p.Thr321fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)
|
rs1592109970
|
|
|
NM_001164277.2(SLC37A4):c.969_975del (p.Ser324fs)
|
|
|
|
NM_001164277.2(SLC37A4):c.976dup (p.Ser326fs)
|
rs2134631242
|
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
|
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)
|
|
|
|
NM_001164277.2(SLC37A4):c.981del (p.Lys328fs)
|
rs1001301633
|
|
|
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)
|
|
|
|
NM_001164277.2(SLC37A4):c.985+10A>G
|
rs2134631117
|
|
|
NM_001164277.2(SLC37A4):c.985+15C>G
|
|
|
|
NM_001164277.2(SLC37A4):c.985+18G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.985+196del
|
rs1555190657
|
|
|
NM_001164277.2(SLC37A4):c.985+1G>A
|
rs1943553565
|
|
|
NM_001164277.2(SLC37A4):c.985+206C>T
|
rs1555190652
|
|
|
NM_001164277.2(SLC37A4):c.985+20C>T
|
rs1453624071
|
|
|
NM_001164277.2(SLC37A4):c.985+219T>C
|
rs1555190648
|
|
|
NM_001164277.2(SLC37A4):c.985+234C>T
|
rs1555190642
|
|
|
NM_001164277.2(SLC37A4):c.985+238dup
|
rs1555190640
|
|
|
NM_001164277.2(SLC37A4):c.985+241C>G
|
rs1555190639
|
|
|
NM_001164277.2(SLC37A4):c.985+244T>G
|
rs1555190637
|
|
|
NM_001164277.2(SLC37A4):c.985+252C>G
|
rs1173737788
|
|
|
NM_001164277.2(SLC37A4):c.985+259G>A
|
rs1384684015
|
|
|
NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT
|
rs1555190633
|
|
|
NM_001164277.2(SLC37A4):c.985+278G>A
|
rs781909226
|
|
|
NM_001164277.2(SLC37A4):c.985+286G>A
|
rs1019246810
|
|
|
NM_001164277.2(SLC37A4):c.985+288T>G
|
rs1555190624
|
|
|
NM_001164277.2(SLC37A4):c.985+3A>G
|
rs782121210
|
|
|
NM_001164277.2(SLC37A4):c.985+9G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile)
|
rs1555190563
|
|
|
NM_001164277.2(SLC37A4):c.986-13C>A
|
rs2134628756
|
|
|
NM_001164277.2(SLC37A4):c.986-14T>G
|
rs863224211
|
|
|
NM_001164277.2(SLC37A4):c.986-1G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.986-1G>C
|
|
|
|
NM_001164277.2(SLC37A4):c.986-3_989del
|
rs1555190559
|
|
|
NM_001164277.2(SLC37A4):c.986-4G>A
|
|
|
|
NM_001164277.2(SLC37A4):c.986-4del
|
rs1555190566
|
|
|
NM_001164277.2(SLC37A4):c.989G>A (p.Trp330Ter)
|
|
|
|
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)
|
rs1555190553
|
|
|
NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=)
|
rs1555190553
|
|
|
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu)
|
rs782443770
|
|
|
NM_001164277.2(SLC37A4):c.999A>G (p.Val333=)
|
|
|
|
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu)
|
rs1555191848
|
|
|
NM_001258392.3(CLPB):c.1073C>A (p.Thr358Lys)
|
rs2135510485
|
|
|
NM_001258392.3(CLPB):c.1167+5G>A
|
|
|
|
NM_001258392.3(CLPB):c.1591C>G (p.Arg531Gly)
|
rs1949512456
|
|
|
NM_001258392.3(CLPB):c.1592G>A (p.Arg531Gln)
|
rs1590753221
|
|
|
NM_001258392.3(CLPB):c.1768C>T (p.Arg590Cys)
|
rs2135484821
|
|
|
NM_001258392.3(CLPB):c.449_455del (p.Val150fs)
|
|
|
|
NM_001258392.3(CLPB):c.760G>T (p.Glu254Ter)
|
|
|
|
NM_001258392.3(CLPB):c.979G>T (p.Val327Leu)
|
|
|
|
NM_001261826.3(AP3D1):c.1523G>C (p.Arg508Pro)
|
rs768071199
|
|
|
NM_001301365.1(LYST):c.-98+16250G>C
|
|
|
|
NM_001710.6(CFB):c.1942A>T (p.Lys648Ter)
|
rs2151787951
|
|
|
NM_001972.2(ELANE):c.[292G>T;301G>T]
|
|
|
|
NM_001972.4(ELANE):c.101G>T (p.Arg34Leu)
|
|
|
|
NM_001972.4(ELANE):c.102G>T (p.Arg34=)
|
rs1241470202
|
|
|
NM_001972.4(ELANE):c.107C>G (p.Ala36Gly)
|
rs1238175738
|
|
|
NM_001972.4(ELANE):c.113C>T (p.Pro38Leu)
|
|
|
|
NM_001972.4(ELANE):c.114C>T (p.Pro38=)
|
rs200245073
|
|
|
NM_001972.4(ELANE):c.117C>A (p.His39Gln)
|
|
|
|
NM_001972.4(ELANE):c.117C>G (p.His39Gln)
|
|
|
|
NM_001972.4(ELANE):c.120G>A (p.Ala40=)
|
|
|
|
NM_001972.4(ELANE):c.123_124insA (p.Pro42fs)
|
|
|
|
NM_001972.4(ELANE):c.127T>C (p.Phe43Leu)
|
|
|
|
NM_001972.4(ELANE):c.129C>G (p.Phe43Leu)
|
|
|
|
NM_001972.4(ELANE):c.12CCG[3] (p.Arg6dup)
|
rs1172918693
|
|
|
NM_001972.4(ELANE):c.131_141del (p.Met44fs)
|
|
|
|
NM_001972.4(ELANE):c.133G>A (p.Val45Met)
|
|
|
|
NM_001972.4(ELANE):c.136T>C (p.Ser46Pro)
|
rs2035616857
|
|
|
NM_001972.4(ELANE):c.137C>T (p.Ser46Phe)
|
rs878855320
|
|
|
NM_001972.4(ELANE):c.138C>T (p.Ser46=)
|
rs2145144082
|
|
|
NM_001972.4(ELANE):c.140T>C (p.Leu47Pro)
|
rs878855319
|
|
|
NM_001972.4(ELANE):c.146T>C (p.Leu49Pro)
|
rs2145144098
|
|
|
NM_001972.4(ELANE):c.14G>T (p.Arg5Leu)
|
|
|
|
NM_001972.4(ELANE):c.150C>A (p.Arg50=)
|
|
|
|
NM_001972.4(ELANE):c.151G>A (p.Gly51Arg)
|
rs1320267189
|
|
|
NM_001972.4(ELANE):c.163T>C (p.Cys55Arg)
|
|
|
|
NM_001972.4(ELANE):c.163_165del (p.Cys55del)
|
rs2035617167
|
|
|
NM_001972.4(ELANE):c.164G>A (p.Cys55Tyr)
|
|
|
|
NM_001972.4(ELANE):c.165C>A (p.Cys55Ter)
|
|
|
|
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr)
|
rs2145144144
|
|
|
NM_001972.4(ELANE):c.172A>C (p.Thr58Pro)
|
rs1555709360
|
|
|
NM_001972.4(ELANE):c.173C>T (p.Thr58Ile)
|
|
|
|
NM_001972.4(ELANE):c.182C>A (p.Ala61Glu)
|
|
|
|
NM_001972.4(ELANE):c.182C>T (p.Ala61Val)
|
rs137854447
|
|
|
NM_001972.4(ELANE):c.184C>T (p.Pro62Ser)
|
|
|
|
NM_001972.4(ELANE):c.189C>A (p.Asn63Lys)
|
rs2145144214
|
|
|
NM_001972.4(ELANE):c.197T>G (p.Met66Arg)
|
|
|
|
NM_001972.4(ELANE):c.1A>G (p.Met1Val)
|
rs2145142832
|
|
|
NM_001972.4(ELANE):c.200C>T (p.Ser67Leu)
|
|
|
|
NM_001972.4(ELANE):c.205G>A (p.Ala69Thr)
|
|
|
|
NM_001972.4(ELANE):c.205del (p.Ala69fs)
|
|
|
|
NM_001972.4(ELANE):c.210C>T (p.His70=)
|
rs1029080359
|
|
|
NM_001972.4(ELANE):c.211T>C (p.Cys71Arg)
|
rs28931611
|
|
|
NM_001972.4(ELANE):c.212G>T (p.Cys71Phe)
|
rs878855315
|
|
|
NM_001972.4(ELANE):c.213C>T (p.Cys71=)
|
rs1368129967
|
|
|
NM_001972.4(ELANE):c.214G>C (p.Val72Leu)
|
|
|
|
NM_001972.4(ELANE):c.222_223insAC (p.Val75fs)
|
rs2035618552
|
|
|
NM_001972.4(ELANE):c.224+4A>T
|
|
|
|
NM_001972.4(ELANE):c.224+9C>G
|
rs1418775355
|
|
|
NM_001972.4(ELANE):c.224+9C>T
|
rs1418775355
|
|
|
NM_001972.4(ELANE):c.225-10_232dup
|
|
|
|
NM_001972.4(ELANE):c.225-16T>C
|
|
|
|
NM_001972.4(ELANE):c.225-17C>T
|
|
|
|
NM_001972.4(ELANE):c.225-3C>T
|
|
|
|
NM_001972.4(ELANE):c.225-4G>A
|
rs2145144905
|
|
|
NM_001972.4(ELANE):c.225-6C>A
|
rs777599059
|
|
|
NM_001972.4(ELANE):c.225-6C>T
|
|
|
|
NM_001972.4(ELANE):c.225-8C>G
|
|
|
|
NM_001972.4(ELANE):c.228C>A (p.Asn76Lys)
|
rs746799175
|
|
|
NM_001972.4(ELANE):c.229G>A (p.Val77Ile)
|
|
|
|
NM_001972.4(ELANE):c.22G>C (p.Ala8Pro)
|
|
|
|
NM_001972.4(ELANE):c.233G>C (p.Arg78Pro)
|
rs569608929
|
|
|
NM_001972.4(ELANE):c.233G>T (p.Arg78Leu)
|
|
|
|
NM_001972.4(ELANE):c.235G>A (p.Ala79Thr)
|
|
|
|
NM_001972.4(ELANE):c.235G>C (p.Ala79Pro)
|
rs769123461
|
|
|
NM_001972.4(ELANE):c.237G>T (p.Ala79=)
|
rs1158107493
|
|
|
NM_001972.4(ELANE):c.239T>C (p.Val80Ala)
|
rs2145144975
|
|
|
NM_001972.4(ELANE):c.23C>G (p.Ala8Gly)
|
rs201961347
|
|
|
NM_001972.4(ELANE):c.242G>A (p.Arg81Gln)
|
|
|
|
NM_001972.4(ELANE):c.242G>C (p.Arg81Pro)
|
rs762470485
|
|
|
NM_001972.4(ELANE):c.243G>A (p.Arg81=)
|
|
|
|
NM_001972.4(ELANE):c.244G>A (p.Val82Met)
|
rs2145144993
|
|
|
NM_001972.4(ELANE):c.247G>A (p.Val83Ile)
|
|
|
|
NM_001972.4(ELANE):c.24G>C (p.Ala8=)
|
rs199901033
|
|
|
NM_001972.4(ELANE):c.251T>C (p.Leu84Pro)
|
rs1064793108
|
|
|
NM_001972.4(ELANE):c.253G>A (p.Gly85Arg)
|
rs1405536870
|
|
|
NM_001972.4(ELANE):c.255_266del (p.Ala86_Leu89del)
|
|
|
|
NM_001972.4(ELANE):c.256G>T (p.Ala86Ser)
|
rs1599291445
|
|
|
NM_001972.4(ELANE):c.258C>T (p.Ala86=)
|
rs2145145024
|
|
|
NM_001972.4(ELANE):c.258_269dup (p.His87_Ser90dup)
|
rs1468631555
|
|
|
NM_001972.4(ELANE):c.25T>C (p.Cys9Arg)
|
rs2035607298
|
|
|
NM_001972.4(ELANE):c.261T>C (p.His87=)
|
rs2145145030
|
|
|
NM_001972.4(ELANE):c.264C>A (p.Asn88Lys)
|
rs766647358
|
|
|
NM_001972.4(ELANE):c.269C>A (p.Ser90Ter)
|
|
|
|
NM_001972.4(ELANE):c.269C>T (p.Ser90Leu)
|
rs890280050
|
|
|
NM_001972.4(ELANE):c.270G>A (p.Ser90=)
|
|
|
|
NM_001972.4(ELANE):c.270_273dup (p.Arg92fs)
|
|
|
|
NM_001972.4(ELANE):c.271C>T (p.Arg91Trp)
|
|
|
|
NM_001972.4(ELANE):c.272G>C (p.Arg91Pro)
|
rs1201600992
|
|
|
NM_001972.4(ELANE):c.282C>T (p.Pro94=)
|
|
|
|
NM_001972.4(ELANE):c.284C>G (p.Thr95Ser)
|
rs752760119
|
|
|
NM_001972.4(ELANE):c.286C>T (p.Arg96Trp)
|
rs777652186
|
|
|
NM_001972.4(ELANE):c.287G>C (p.Arg96Pro)
|
|
|
|
NM_001972.4(ELANE):c.289_300dup (p.Ala100_Val101insGlnValPheAla)
|
rs2145145135
|
|
|
NM_001972.4(ELANE):c.295T>C (p.Phe99Leu)
|
|
|
|
NM_001972.4(ELANE):c.297C>G (p.Phe99Leu)
|
|
|
|
NM_001972.4(ELANE):c.298G>A (p.Ala100Thr)
|
rs549887145
|
|
|
NM_001972.4(ELANE):c.298G>T (p.Ala100Ser)
|
|
|
|
NM_001972.4(ELANE):c.300C>T (p.Ala100=)
|
rs200002231
|
|
|
NM_001972.4(ELANE):c.300dup (p.Val101fs)
|
rs2145145158
|
|
|
NM_001972.4(ELANE):c.301G>A (p.Val101Met)
|
rs137854449
|
|
|
NM_001972.4(ELANE):c.308G>C (p.Arg103Pro)
|
rs745455816
|
|
|
NM_001972.4(ELANE):c.315C>G (p.Phe105Leu)
|
|
|
|
NM_001972.4(ELANE):c.315C>T (p.Phe105=)
|
|
|
|
NM_001972.4(ELANE):c.317A>C (p.Glu106Ala)
|
|
|
|
NM_001972.4(ELANE):c.319A>G (p.Asn107Asp)
|
|
|
|
NM_001972.4(ELANE):c.322G>C (p.Gly108Arg)
|
rs1221333968
|
|
|
NM_001972.4(ELANE):c.322G>T (p.Gly108Cys)
|
|
|
|
NM_001972.4(ELANE):c.324C>T (p.Gly108=)
|
rs2145145223
|
|
|
NM_001972.4(ELANE):c.336A>G (p.Val112=)
|
|
|
|
NM_001972.4(ELANE):c.342G>T (p.Leu114Phe)
|
rs1568304522
|
|
|
NM_001972.4(ELANE):c.349G>C (p.Asp117His)
|
|
|
|
NM_001972.4(ELANE):c.353T>A (p.Ile118Asn)
|
rs1599291639
|
|
|
NM_001972.4(ELANE):c.354C>T (p.Ile118=)
|
|
|
|
NM_001972.4(ELANE):c.355G>C (p.Val119Leu)
|
|
|
|
NM_001972.4(ELANE):c.362T>G (p.Leu121Arg)
|
|
|
|
NM_001972.4(ELANE):c.366+13G>C
|
|
|
|
NM_001972.4(ELANE):c.366+17_366+21del
|
rs1220139184
|
|
|
NM_001972.4(ELANE):c.366+18G>A
|
|
|
|
NM_001972.4(ELANE):c.366+23del
|
|
|
|
NM_001972.4(ELANE):c.366+7C>T
|
rs1258334813
|
|
|
NM_001972.4(ELANE):c.366+8C>T
|
rs752811125
|
|
|
NM_001972.4(ELANE):c.367-10_367-9dup
|
rs750610201
|
|
|
NM_001972.4(ELANE):c.367-11C>T
|
rs2145148374
|
|
|
NM_001972.4(ELANE):c.367-12C>T
|
|
|
|
NM_001972.4(ELANE):c.367-13C>T
|
|
|
|
NM_001972.4(ELANE):c.367-1G>A
|
|
|
|
NM_001972.4(ELANE):c.367-1G>C
|
rs1442062349
|
|
|
NM_001972.4(ELANE):c.367-3C>T
|
|
|
|
NM_001972.4(ELANE):c.367-8C>A
|
rs200752339
|
|
|
NM_001972.4(ELANE):c.367-8C>T
|
rs200752339
|
|
|
NM_001972.4(ELANE):c.367C>G (p.Leu123Val)
|
rs2035663521
|
|
|
NM_001972.4(ELANE):c.368T>C (p.Leu123Pro)
|
rs2145148405
|
|
|
NM_001972.4(ELANE):c.36C>A (p.Leu12=)
|
rs751186012
|
|
|
NM_001972.4(ELANE):c.36C>G (p.Leu12=)
|
|
|
|
NM_001972.4(ELANE):c.372C>A (p.Asn124Lys)
|
rs200595736
|
|
|
NM_001972.4(ELANE):c.377C>G (p.Ser126Trp)
|
rs137854450
|
|
|
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)
|
rs137854450
|
|
|
NM_001972.4(ELANE):c.380CCA[1] (p.Thr128del)
|
rs1599293834
|
|
|
NM_001972.4(ELANE):c.38C>G (p.Ala13Gly)
|
rs756726256
|
|
|
NM_001972.4(ELANE):c.391G>A (p.Ala131Thr)
|
|
|
|
NM_001972.4(ELANE):c.392C>G (p.Ala131Gly)
|
|
|
|
NM_001972.4(ELANE):c.392C>T (p.Ala131Val)
|
rs2035664443
|
|
|
NM_001972.4(ELANE):c.396C>A (p.Asn132Lys)
|
|
|
|
NM_001972.4(ELANE):c.39C>G (p.Ala13=)
|
rs139637472
|
|
|
NM_001972.4(ELANE):c.401A>G (p.Gln134Arg)
|
|
|
|
NM_001972.4(ELANE):c.403G>A (p.Val135Met)
|
rs774457980
|
|
|
NM_001972.4(ELANE):c.403G>T (p.Val135Leu)
|
|
|
|
NM_001972.4(ELANE):c.405G>T (p.Val135=)
|
|
|
|
NM_001972.4(ELANE):c.410_416del (p.Gln137fs)
|
|
|
|
NM_001972.4(ELANE):c.411G>C (p.Gln137His)
|
|
|
|
NM_001972.4(ELANE):c.413T>A (p.Leu138Gln)
|
|
|
|
NM_001972.4(ELANE):c.416C>G (p.Pro139Arg)
|
|
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
|
NM_001972.4(ELANE):c.41G>A (p.Cys14Tyr)
|
rs1470888380
|
|
|
NM_001972.4(ELANE):c.435G>C (p.Leu145=)
|
rs992902449
|
|
|
NM_001972.4(ELANE):c.437_457dup (p.Gly146_Leu152dup)
|
rs2145148571
|
|
|
NM_001972.4(ELANE):c.443G>A (p.Gly148Glu)
|
rs1309647401
|
|
|
NM_001972.4(ELANE):c.452G>A (p.Cys151Tyr)
|
rs57246956
|
|
|
NM_001972.4(ELANE):c.452G>C (p.Cys151Ser)
|
rs57246956
|
|
|
NM_001972.4(ELANE):c.453C>T (p.Cys151=)
|
rs1328150231
|
|
|
NM_001972.4(ELANE):c.454C>T (p.Leu152=)
|
|
|
|
NM_001972.4(ELANE):c.458C>A (p.Ala153Asp)
|
|
|
|
NM_001972.4(ELANE):c.45C>G (p.Val15=)
|
rs1210157302
|
|
|
NM_001972.4(ELANE):c.461T>G (p.Met154Arg)
|
rs1429051935
|
|
|
NM_001972.4(ELANE):c.466T>A (p.Trp156Arg)
|
|
|
|
NM_001972.4(ELANE):c.467G>C (p.Trp156Ser)
|
rs2035666353
|
|
|
NM_001972.4(ELANE):c.469G>A (p.Gly157Ser)
|
|
|
|
NM_001972.4(ELANE):c.472C>T (p.Leu158Phe)
|
rs535990034
|
|
|
NM_001972.4(ELANE):c.482G>A (p.Arg161Lys)
|
|
|
|
NM_001972.4(ELANE):c.487C>A (p.Arg163Ser)
|
rs759382746
|
|
|
NM_001972.4(ELANE):c.487C>T (p.Arg163Cys)
|
|
|
|
NM_001972.4(ELANE):c.488G>A (p.Arg163His)
|
|
|
|
NM_001972.4(ELANE):c.493A>G (p.Ile165Val)
|
rs1599294094
|
|
|
NM_001972.4(ELANE):c.496G>A (p.Ala166Thr)
|
|
|
|
NM_001972.4(ELANE):c.498C>T (p.Ala166=)
|
rs2145148773
|
|
|
NM_001972.4(ELANE):c.509A>G (p.Gln170Arg)
|
|
|
|
NM_001972.4(ELANE):c.513G>T (p.Glu171Asp)
|
|
|
|
NM_001972.4(ELANE):c.516C>G (p.Leu172=)
|
|
|
|
NM_001972.4(ELANE):c.51G>T (p.Pro17=)
|
rs1289067999
|
|
|
NM_001972.4(ELANE):c.525G>A (p.Thr175=)
|
|
|
|
NM_001972.4(ELANE):c.525G>T (p.Thr175=)
|
|
|
|
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro)
|
rs797045007
|
|
|
NM_001972.4(ELANE):c.531G>A (p.Val177=)
|
|
|
|
NM_001972.4(ELANE):c.533C>A (p.Thr178Lys)
|
rs747053501
|
|
|
NM_001972.4(ELANE):c.533C>T (p.Thr178Met)
|
|
|
|
NM_001972.4(ELANE):c.534G>T (p.Thr178=)
|
rs1036286591
|
|
|
NM_001972.4(ELANE):c.537C>T (p.Ser179=)
|
|
|
|
NM_001972.4(ELANE):c.537_563del (p.Cys181_Leu189del)
|
|
|
|
NM_001972.4(ELANE):c.538del (p.Leu180fs)
|
|
|
|
NM_001972.4(ELANE):c.540C>G (p.Leu180=)
|
rs897624968
|
|
|
NM_001972.4(ELANE):c.542G>A (p.Cys181Tyr)
|
|
|
|
NM_001972.4(ELANE):c.550A>C (p.Ser184Arg)
|
rs2035668478
|
|
|
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)
|
rs797045009
|
|
|
NM_001972.4(ELANE):c.566dup (p.Val190fs)
|
|
|
|
NM_001972.4(ELANE):c.567C>G (p.Leu189=)
|
rs751132983
|
|
|
NM_001972.4(ELANE):c.568G>C (p.Val190Leu)
|
|
|
|
NM_001972.4(ELANE):c.569T>G (p.Val190Gly)
|
rs1322572531
|
|
|
NM_001972.4(ELANE):c.570G>A (p.Val190=)
|
|
|
|
NM_001972.4(ELANE):c.573G>T (p.Arg191Ser)
|
rs754277797
|
|
|
NM_001972.4(ELANE):c.574_583del (p.Gly192fs)
|
rs2145148969
|
|
|
NM_001972.4(ELANE):c.581A>T (p.Gln194Leu)
|
|
|
|
NM_001972.4(ELANE):c.581_582inv (p.Gln194Pro)
|
|
|
|
NM_001972.4(ELANE):c.581_597dup (p.Gly200fs)
|
|
|
|
NM_001972.4(ELANE):c.583G>A (p.Ala195Thr)
|
|
|
|
NM_001972.4(ELANE):c.583del (p.Ala195fs)
|
|
|
|
NM_001972.4(ELANE):c.584C>A (p.Ala195Asp)
|
|
|
|
NM_001972.4(ELANE):c.588C>T (p.Gly196=)
|
|
|
|
NM_001972.4(ELANE):c.589G>A (p.Val197Ile)
|
rs1471191879
|
|
|
NM_001972.4(ELANE):c.597+10C>A
|
rs201460728
|
|
|
NM_001972.4(ELANE):c.597+14G>A
|
|
|
|
NM_001972.4(ELANE):c.597+17T>G
|
|
|
|
NM_001972.4(ELANE):c.597+19C>G
|
|
|
|
NM_001972.4(ELANE):c.597+1G>A
|
rs1555710005
|
|
|
NM_001972.4(ELANE):c.597+1G>C
|
rs1555710005
|
|
|
NM_001972.4(ELANE):c.597+20C>T
|
rs879254187
|
|
|
NM_001972.4(ELANE):c.597+3A>T
|
rs2145149093
|
|
|
NM_001972.4(ELANE):c.597+4C>T
|
|
|
|
NM_001972.4(ELANE):c.597+5G>A
|
rs879253882
|
|
|
NM_001972.4(ELANE):c.597+5G>C
|
|
|
|
NM_001972.4(ELANE):c.597+5G>T
|
rs879253882
|
|
|
NM_001972.4(ELANE):c.597+5_597+8del
|
rs2035670462
|
|
|
NM_001972.4(ELANE):c.597C>T (p.Phe199=)
|
|
|
|
NM_001972.4(ELANE):c.598-17del
|
|
|
|
NM_001972.4(ELANE):c.598-3C>G
|
rs730880095
|
|
|
NM_001972.4(ELANE):c.598-8C>T
|
rs778083470
|
|
|
NM_001972.4(ELANE):c.602del (p.Asp201fs)
|
rs2035673569
|
|
|
NM_001972.4(ELANE):c.606C>A (p.Ser202=)
|
rs17216649
|
|
|
NM_001972.4(ELANE):c.606C>T (p.Ser202=)
|
rs17216649
|
|
|
NM_001972.4(ELANE):c.607G>A (p.Gly203Ser)
|
|
|
|
NM_001972.4(ELANE):c.607G>C (p.Gly203Arg)
|
rs201139487
|
|
|
NM_001972.4(ELANE):c.607G>T (p.Gly203Cys)
|
rs201139487
|
|
|
NM_001972.4(ELANE):c.618G>A (p.Leu206=)
|
|
|
|
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe)
|
rs137854446
|
|
|
NM_001972.4(ELANE):c.618G>T (p.Leu206Phe)
|
rs137854446
|
|
|
NM_001972.4(ELANE):c.619G>C (p.Val207Leu)
|
rs2035674003
|
|
|
NM_001972.4(ELANE):c.619G>T (p.Val207Phe)
|
rs2035674003
|
|
|
NM_001972.4(ELANE):c.622T>G (p.Cys208Gly)
|
rs2145149526
|
|
|
NM_001972.4(ELANE):c.623G>T (p.Cys208Phe)
|
rs1226645940
|
|
|
NM_001972.4(ELANE):c.624C>T (p.Cys208=)
|
|
|
|
NM_001972.4(ELANE):c.634A>G (p.Ile212Val)
|
rs2035674370
|
|
|
NM_001972.4(ELANE):c.636C>A (p.Ile212=)
|
|
|
|
NM_001972.4(ELANE):c.639C>A (p.His213Gln)
|
|
|
|
NM_001972.4(ELANE):c.639C>T (p.His213=)
|
rs199532353
|
|
|
NM_001972.4(ELANE):c.639del (p.His213fs)
|
|
|
|
NM_001972.4(ELANE):c.640G>A (p.Gly214Arg)
|
rs137854451
|
|
|
NM_001972.4(ELANE):c.640G>C (p.Gly214Arg)
|
|
|
|
NM_001972.4(ELANE):c.641G>A (p.Gly214Glu)
|
rs1555710089
|
|
|
NM_001972.4(ELANE):c.644T>A (p.Ile215Asn)
|
rs771710628
|
|
|
NM_001972.4(ELANE):c.644T>C (p.Ile215Thr)
|
|
|
|
NM_001972.4(ELANE):c.647C>T (p.Ala216Val)
|
rs760080772
|
|
|
NM_001972.4(ELANE):c.648C>T (p.Ala216=)
|
|
|
|
NM_001972.4(ELANE):c.64G>C (p.Gly22Arg)
|
rs1477643766
|
|
|
NM_001972.4(ELANE):c.659G>C (p.Arg220Pro)
|
rs137854445
|
|
|
NM_001972.4(ELANE):c.661G>T (p.Gly221Ter)
|
rs2035675760
|
|
|
NM_001972.4(ELANE):c.664G>A (p.Gly222Ser)
|
rs2145149692
|
|
|
NM_001972.4(ELANE):c.664G>T (p.Gly222Cys)
|
rs2145149692
|
|
|
NM_001972.4(ELANE):c.665G>A (p.Gly222Asp)
|
rs1555710104
|
|
|
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter)
|
rs1599294750
|
|
|
NM_001972.4(ELANE):c.66G>A (p.Gly22=)
|
rs748560924
|
|
|
NM_001972.4(ELANE):c.67+20C>T
|
rs1370369907
|
|
|
NM_001972.4(ELANE):c.67+7T>A
|
|
|
|
NM_001972.4(ELANE):c.67+7T>C
|
|
|
|
NM_001972.4(ELANE):c.674C>G (p.Ser225Ter)
|
|
|
|
NM_001972.4(ELANE):c.676G>A (p.Gly226Arg)
|
rs780046041
|
|
|
NM_001972.4(ELANE):c.68-14C>T
|
|
|
|
NM_001972.4(ELANE):c.68-20C>T
|
|
|
|
NM_001972.4(ELANE):c.68-5C>A
|
|
|
|
NM_001972.4(ELANE):c.687del (p.Asp230fs)
|
rs2145149748
|
|
|
NM_001972.4(ELANE):c.688G>C (p.Asp230His)
|
|
|
|
NM_001972.4(ELANE):c.68G>A (p.Gly23Asp)
|
rs2145143878
|
|
|
NM_001972.4(ELANE):c.693C>G (p.Ala231=)
|
|
|
|
NM_001972.4(ELANE):c.701C>T (p.Pro234Leu)
|
rs760263661
|
|
|
NM_001972.4(ELANE):c.722G>A (p.Trp241Ter)
|
rs2035677025
|
|
|
NM_001972.4(ELANE):c.723G>A (p.Trp241Ter)
|
rs2145149815
|
|
|
NM_001972.4(ELANE):c.724A>T (p.Ile242Phe)
|
|
|
|
NM_001972.4(ELANE):c.731_732del (p.Ser244fs)
|
|
|
|
NM_001972.4(ELANE):c.733_737dup (p.Gln247fs)
|
|
|
|
NM_001972.4(ELANE):c.735C>T (p.Ile245=)
|
|
|
|
NM_001972.4(ELANE):c.73G>A (p.Ala25Thr)
|
|
|
|
NM_001972.4(ELANE):c.740A>T (p.Gln247Leu)
|
|
|
|
NM_001972.4(ELANE):c.744C>G (p.Arg248=)
|
rs2035677633
|
|
|
NM_001972.4(ELANE):c.746C>G (p.Ser249Cys)
|
|
|
|
NM_001972.4(ELANE):c.746C>T (p.Ser249Phe)
|
rs201224216
|
|
|
NM_001972.4(ELANE):c.74C>A (p.Ala25Glu)
|
rs1396230082
|
|
|
NM_001972.4(ELANE):c.751G>T (p.Asp251Tyr)
|
|
|
|
NM_001972.4(ELANE):c.752A>C (p.Asp251Ala)
|
rs2035677886
|
|
|
NM_001972.4(ELANE):c.760T>C (p.Cys254Arg)
|
rs2145149914
|
|
|
NM_001972.4(ELANE):c.761G>A (p.Cys254Tyr)
|
|
|
|
NM_001972.4(ELANE):c.768C>T (p.His256=)
|
rs199932636
|
|
|
NM_001972.4(ELANE):c.775G>C (p.Asp259His)
|
rs1408272130
|
|
|
NM_001972.4(ELANE):c.779C>T (p.Pro260Leu)
|
|
|
|
NM_001972.4(ELANE):c.780G>A (p.Pro260=)
|
|
|
|
NM_001972.4(ELANE):c.782A>G (p.Asp261Gly)
|
|
|
|
NM_001972.4(ELANE):c.786G>C (p.Pro262=)
|
rs762273987
|
|
|
NM_001972.4(ELANE):c.789C>T (p.Ala263=)
|
rs201238919
|
|
|
NM_001972.4(ELANE):c.790A>G (p.Ser264Gly)
|
|
|
|
NM_001972.4(ELANE):c.803G>C (p.Ter268Ser)
|
|
|
|
NM_001972.4(ELANE):c.81C>T (p.Ala27=)
|
rs2145143896
|
|
|
NM_001972.4(ELANE):c.85G>A (p.Glu29Lys)
|
|
|
|
NM_001972.4(ELANE):c.91G>A (p.Val31Met)
|
rs2145143909
|
|
|
NM_001972.4(ELANE):c.96G>A (p.Gly32=)
|
|
|
|
NM_001972.4(ELANE):c.98del (p.Gly33fs)
|
|
|
|
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys)
|
rs1555908409
|
|
|
NM_003135.3(SRP19):c.189+5G>A
|
rs1322282571
|
|
|
NM_003136.4(SRP54):c.1008T>A (p.Phe336Leu)
|
|
|
|
NM_003136.4(SRP54):c.337G>C (p.Gly113Arg)
|
rs1594996301
|
|
|
NM_003136.4(SRP54):c.343A>G (p.Thr115Ala)
|
rs1555354200
|
|
|
NM_003136.4(SRP54):c.343ACA[2] (p.Thr117del)
|
rs1555354198
|
|
|
NM_003136.4(SRP54):c.668C>A (p.Ala223Asp)
|
rs1595004126
|
|
|
NM_003136.4(SRP54):c.677G>A (p.Gly226Glu)
|
rs1555354750
|
|
|
NM_003136.4(SRP54):c.821G>A (p.Gly274Asp)
|
rs1595004676
|
|
|
NM_003139.4(SRPRA):c.1390C>G (p.Gln464Glu)
|
rs1950780024
|
|
|
NM_003467.3(CXCR4):c.1000C>G (p.Arg334Gly)
|
rs104893624
|
|
|
NM_003467.3(CXCR4):c.1000C>T (p.Arg334Ter)
|
rs104893624
|
|
|
NM_003467.3(CXCR4):c.1001G>C (p.Arg334Pro)
|
|
|
|
NM_003467.3(CXCR4):c.1006G>T (p.Gly336Ter)
|
rs2104915575
|
|
|
NM_003467.3(CXCR4):c.1008A>G (p.Gly336=)
|
|
|
|
NM_003467.3(CXCR4):c.1011T>G (p.His337Gln)
|
|
|
|
NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter)
|
rs104893626
|
|
|
NM_003467.3(CXCR4):c.1013C>G (p.Ser338Ter)
|
rs104893626
|
|
|
NM_003467.3(CXCR4):c.1014del (p.Ser339fs)
|
rs2104915548
|
|
|
NM_003467.3(CXCR4):c.1016_1017del (p.Ser339fs)
|
rs730880320
|
|
|
NM_003467.3(CXCR4):c.1025_1026del (p.Thr342fs)
|
rs2104915518
|
|
|
NM_003467.3(CXCR4):c.1026T>C (p.Thr342=)
|
rs2104915514
|
|
|
NM_003467.3(CXCR4):c.1027G>T (p.Glu343Ter)
|
rs104893625
|
|
|
NM_003467.3(CXCR4):c.1032T>C (p.Ser344=)
|
rs758871604
|
|
|
NM_003467.3(CXCR4):c.103A>G (p.Asn35Asp)
|
|
|
|
NM_003467.3(CXCR4):c.1042A>G (p.Ser348Gly)
|
rs1573613407
|
|
|
NM_003467.3(CXCR4):c.109A>G (p.Asn37Asp)
|
|
|
|
NM_003467.3(CXCR4):c.10A>G (p.Ile4Val)
|
rs2104922432
|
|
|
NM_003467.3(CXCR4):c.110A>G (p.Asn37Ser)
|
rs749938835
|
|
|
NM_003467.3(CXCR4):c.116T>C (p.Ile39Thr)
|
|
|
|
NM_003467.3(CXCR4):c.132del (p.Tyr45fs)
|
rs1684870931
|
|
|
NM_003467.3(CXCR4):c.15+7C>T
|
rs2104922411
|
|
|
NM_003467.3(CXCR4):c.15+9A>C
|
rs2104922408
|
|
|
NM_003467.3(CXCR4):c.165C>A (p.Gly55=)
|
|
|
|
NM_003467.3(CXCR4):c.175G>A (p.Val59Ile)
|
|
|
|
NM_003467.3(CXCR4):c.184G>A (p.Val62Ile)
|
|
|
|
NM_003467.3(CXCR4):c.188T>C (p.Met63Thr)
|
|
|
|
NM_003467.3(CXCR4):c.19T>C (p.Tyr7His)
|
rs560844176
|
|
|
NM_003467.3(CXCR4):c.225del (p.Lys75fs)
|
|
|
|
NM_003467.3(CXCR4):c.228C>T (p.Tyr76=)
|
|
|
|
NM_003467.3(CXCR4):c.235C>T (p.His79Tyr)
|
rs2104918076
|
|
|
NM_003467.3(CXCR4):c.250G>A (p.Asp84Asn)
|
rs368016542
|
|
|
NM_003467.3(CXCR4):c.256C>T (p.Leu86Phe)
|
|
|
|
NM_003467.3(CXCR4):c.267C>T (p.Ile89=)
|
|
|
|
NM_003467.3(CXCR4):c.273T>C (p.Leu91=)
|
rs1025484081
|
|
|
NM_003467.3(CXCR4):c.278T>C (p.Phe93Ser)
|
|
|
|
NM_003467.3(CXCR4):c.282G>A (p.Trp94Ter)
|
rs2104917984
|
|
|
NM_003467.3(CXCR4):c.295G>A (p.Val99Met)
|
|
|
|
NM_003467.3(CXCR4):c.305G>A (p.Trp102Ter)
|
|
|
|
NM_003467.3(CXCR4):c.307T>C (p.Tyr103His)
|
|
|
|
NM_003467.3(CXCR4):c.30T>C (p.Asp10=)
|
rs1245012855
|
|
|
NM_003467.3(CXCR4):c.338A>C (p.His113Pro)
|
rs1684862940
|
|
|
NM_003467.3(CXCR4):c.342C>A (p.Val114=)
|
|
|
|
NM_003467.3(CXCR4):c.363C>T (p.Tyr121=)
|
|
|
|
NM_003467.3(CXCR4):c.394C>G (p.Leu132Val)
|
|
|
|
NM_003467.3(CXCR4):c.39C>T (p.Thr13=)
|
|
|
|
NM_003467.3(CXCR4):c.402C>A (p.Arg134=)
|
rs2104917808
|
|
|
NM_003467.3(CXCR4):c.415G>A (p.Val139Ile)
|
|
|
|
NM_003467.3(CXCR4):c.437G>A (p.Arg146Lys)
|
|
|
|
NM_003467.3(CXCR4):c.438G>A (p.Arg146=)
|
|
|
|
NM_003467.3(CXCR4):c.444G>A (p.Arg148=)
|
|
|
|
NM_003467.3(CXCR4):c.453G>A (p.Leu151=)
|
|
|
|
NM_003467.3(CXCR4):c.458A>C (p.Glu153Ala)
|
rs1553457905
|
|
|
NM_003467.3(CXCR4):c.473T>C (p.Val158Ala)
|
|
|
|
NM_003467.3(CXCR4):c.475G>A (p.Gly159Ser)
|
rs910532454
|
|
|
NM_003467.3(CXCR4):c.501G>A (p.Leu167=)
|
|
|
|
NM_003467.3(CXCR4):c.504T>A (p.Thr168=)
|
|
|
|
NM_003467.3(CXCR4):c.518T>C (p.Ile173Thr)
|
|
|
|
NM_003467.3(CXCR4):c.529G>A (p.Val177Ile)
|
|
|
|
NM_003467.3(CXCR4):c.549A>G (p.Arg183=)
|
|
|
|
NM_003467.3(CXCR4):c.552T>C (p.Tyr184=)
|
|
|
|
NM_003467.3(CXCR4):c.560A>G (p.Asp187Gly)
|
rs2104916956
|
|
|
NM_003467.3(CXCR4):c.575A>G (p.Asn192Ser)
|
|
|
|
NM_003467.3(CXCR4):c.584G>A (p.Trp195Ter)
|
|
|
|
NM_003467.3(CXCR4):c.591del (p.Val198fs)
|
|
|
|
NM_003467.3(CXCR4):c.5A>G (p.Glu2Gly)
|
|
|
|
NM_003467.3(CXCR4):c.624T>C (p.Leu208=)
|
|
|
|
NM_003467.3(CXCR4):c.650C>A (p.Ser217Tyr)
|
rs1406988415
|
|
|
NM_003467.3(CXCR4):c.653G>C (p.Cys218Ser)
|
|
|
|
NM_003467.3(CXCR4):c.660C>T (p.Cys220=)
|
rs2104916277
|
|
|
NM_003467.3(CXCR4):c.661A>C (p.Ile221Leu)
|
rs1684851586
|
|
|
NM_003467.3(CXCR4):c.695A>G (p.His232Arg)
|
|
|
|
NM_003467.3(CXCR4):c.70A>G (p.Met24Val)
|
|
|
|
NM_003467.3(CXCR4):c.747C>T (p.Phe249=)
|
rs779760942
|
|
|
NM_003467.3(CXCR4):c.752G>T (p.Cys251Phe)
|
rs2104916053
|
|
|
NM_003467.3(CXCR4):c.795C>T (p.Ile265=)
|
|
|
|
NM_003467.3(CXCR4):c.798C>T (p.Leu266=)
|
|
|
|
NM_003467.3(CXCR4):c.7G>T (p.Gly3Trp)
|
|
|
|
NM_003467.3(CXCR4):c.804A>T (p.Glu268Asp)
|
rs2104915971
|
|
|
NM_003467.3(CXCR4):c.814C>T (p.Gln272Ter)
|
rs2104915939
|
|
|
NM_003467.3(CXCR4):c.831G>C (p.Glu277Asp)
|
rs2104915918
|
|
|
NM_003467.3(CXCR4):c.843C>T (p.His281=)
|
|
|
|
NM_003467.3(CXCR4):c.862G>A (p.Glu288Lys)
|
|
|
|
NM_003467.3(CXCR4):c.865G>A (p.Ala289Thr)
|
|
|
|
NM_003467.3(CXCR4):c.870A>G (p.Leu290=)
|
rs1573613626
|
|
|
NM_003467.3(CXCR4):c.871G>A (p.Ala291Thr)
|
rs2104915846
|
|
|
NM_003467.3(CXCR4):c.884G>A (p.Cys295Tyr)
|
|
|
|
NM_003467.3(CXCR4):c.893_1034dup (p.Glu345_Ser346insProHisProLeuCysPheProTrpSerGlnIleTer)
|
rs2104915487
|
|
|
NM_003467.3(CXCR4):c.89G>A (p.Arg30His)
|
|
|
|
NM_003467.3(CXCR4):c.912C>T (p.Phe304=)
|
|
|
|
NM_003467.3(CXCR4):c.928A>G (p.Lys310Glu)
|
rs1684843543
|
|
|
NM_003467.3(CXCR4):c.933C>G (p.Thr311=)
|
|
|
|
NM_003467.3(CXCR4):c.946G>A (p.Ala316Thr)
|
rs145335491
|
|
|
NM_003467.3(CXCR4):c.950_953del (p.Leu317fs)
|
rs1573613529
|
|
|
NM_003467.3(CXCR4):c.956_957del (p.Ser319fs)
|
rs1684841455
|
|
|
NM_003467.3(CXCR4):c.957T>G (p.Ser319=)
|
|
|
|
NM_003467.3(CXCR4):c.959_960del (p.Val320fs)
|
rs2104915680
|
|
|
NM_003467.3(CXCR4):c.963dup (p.Arg322fs)
|
rs2104915668
|
|
|
NM_003467.3(CXCR4):c.964A>G (p.Arg322Gly)
|
|
|
|
NM_003467.3(CXCR4):c.967G>A (p.Gly323Arg)
|
|
|
|
NM_003467.3(CXCR4):c.969dup (p.Ser324fs)
|
rs1684840786
|
|
|
NM_003467.3(CXCR4):c.973A>G (p.Ser325Gly)
|
rs1684840650
|
|
|
NM_003467.3(CXCR4):c.984C>A (p.Ile328=)
|
|
|
|
NM_003467.3(CXCR4):c.994G>T (p.Gly332Ter)
|
rs1240625960
|
|
|
NM_003664.4(AP3B1):c.-126C>G
|
rs760008097
|
|
|
NM_003664.4(AP3B1):c.1839_1842delTAGA
|
|
|
|
NM_003664.5(AP3B1):c.*191C>G
|
rs6864605
|
|
|
NM_003664.5(AP3B1):c.*380G>A
|
rs911081557
|
|
|
NM_003664.5(AP3B1):c.*380G>C
|
rs911081557
|
|
|
NM_003664.5(AP3B1):c.-115G>A
|
rs886060776
|
|
|
NM_003664.5(AP3B1):c.-83G>C
|
rs774869942
|
|
|
NM_003664.5(AP3B1):c.1020del (p.Arg341fs)
|
|
|
|
NM_003664.5(AP3B1):c.1025T>C (p.Leu342Ser)
|
|
|
|
NM_003664.5(AP3B1):c.1030C>A (p.Arg344Ser)
|
rs753341973
|
|
|
NM_003664.5(AP3B1):c.1035C>A (p.Ser345Arg)
|
rs1744189442
|
|
|
NM_003664.5(AP3B1):c.1039A>G (p.Arg347Gly)
|
rs774128940
|
|
|
NM_003664.5(AP3B1):c.1040+17T>G
|
|
|
|
NM_003664.5(AP3B1):c.1041-15T>A
|
rs2112402058
|
|
|
NM_003664.5(AP3B1):c.1042G>T (p.Glu348Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1045G>T (p.Val349Leu)
|
|
|
|
NM_003664.5(AP3B1):c.1047G>A (p.Val349=)
|
|
|
|
NM_003664.5(AP3B1):c.1051T>G (p.Tyr351Asp)
|
|
|
|
NM_003664.5(AP3B1):c.105C>T (p.Gly35=)
|
|
|
|
NM_003664.5(AP3B1):c.1061T>A (p.Leu354Gln)
|
|
|
|
NM_003664.5(AP3B1):c.107T>C (p.Leu36Pro)
|
|
|
|
NM_003664.5(AP3B1):c.1091_1092delinsAT (p.Arg364Asn)
|
|
|
|
NM_003664.5(AP3B1):c.1095+17C>G
|
|
|
|
NM_003664.5(AP3B1):c.1095+20G>T
|
|
|
|
NM_003664.5(AP3B1):c.1095+9G>A
|
|
|
|
NM_003664.5(AP3B1):c.1096-16T>C
|
|
|
|
NM_003664.5(AP3B1):c.1096-7A>T
|
rs2112401625
|
|
|
NM_003664.5(AP3B1):c.1096-9G>A
|
|
|
|
NM_003664.5(AP3B1):c.1101dup (p.Phe368fs)
|
rs1744118616
|
|
|
NM_003664.5(AP3B1):c.110T>A (p.Phe37Tyr)
|
|
|
|
NM_003664.5(AP3B1):c.1125C>G (p.Phe375Leu)
|
rs2112401517
|
|
|
NM_003664.5(AP3B1):c.1125C>T (p.Phe375=)
|
|
|
|
NM_003664.5(AP3B1):c.1129G>A (p.Val377Ile)
|
rs757985695
|
|
|
NM_003664.5(AP3B1):c.1143T>C (p.Asp381=)
|
|
|
|
NM_003664.5(AP3B1):c.1167+11T>C
|
rs2112401362
|
|
|
NM_003664.5(AP3B1):c.1167+1_1167+2dup
|
rs2112401395
|
|
|
NM_003664.5(AP3B1):c.1167+8T>C
|
|
|
|
NM_003664.5(AP3B1):c.1168-12_1168-8del
|
|
|
|
NM_003664.5(AP3B1):c.1168-4A>G
|
|
|
|
NM_003664.5(AP3B1):c.1168-7A>G
|
rs780180977
|
|
|
NM_003664.5(AP3B1):c.1168_1230del (p.Leu390_Gln410del)
|
|
|
|
NM_003664.5(AP3B1):c.1180A>G (p.Thr394Ala)
|
|
|
|
NM_003664.5(AP3B1):c.1190C>T (p.Ala397Val)
|
rs1743584840
|
|
|
NM_003664.5(AP3B1):c.1193A>G (p.Asn398Ser)
|
rs759936403
|
|
|
NM_003664.5(AP3B1):c.1206_1207del (p.Ser403fs)
|
|
|
|
NM_003664.5(AP3B1):c.1219C>A (p.Arg407=)
|
rs768390608
|
|
|
NM_003664.5(AP3B1):c.1230+10C>T
|
rs1580431334
|
|
|
NM_003664.5(AP3B1):c.1230+12G>A
|
|
|
|
NM_003664.5(AP3B1):c.1230+13T>C
|
|
|
|
NM_003664.5(AP3B1):c.1230+6T>C
|
|
|
|
NM_003664.5(AP3B1):c.1230G>C (p.Gln410His)
|
rs2112377230
|
|
|
NM_003664.5(AP3B1):c.1231-11A>G
|
rs1743450274
|
|
|
NM_003664.5(AP3B1):c.1231-9A>G
|
|
|
|
NM_003664.5(AP3B1):c.1232C>A (p.Thr411Asn)
|
|
|
|
NM_003664.5(AP3B1):c.1241A>C (p.Lys414Thr)
|
rs778910104
|
|
|
NM_003664.5(AP3B1):c.1245C>T (p.Ser415=)
|
|
|
|
NM_003664.5(AP3B1):c.1255C>T (p.Gln419Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1260T>C (p.Phe420=)
|
|
|
|
NM_003664.5(AP3B1):c.1264G>A (p.Ala422Thr)
|
|
|
|
NM_003664.5(AP3B1):c.128+20T>C
|
|
|
|
NM_003664.5(AP3B1):c.128+4A>G
|
|
|
|
NM_003664.5(AP3B1):c.128+8G>A
|
|
|
|
NM_003664.5(AP3B1):c.1281T>C (p.Thr427=)
|
rs954170484
|
|
|
NM_003664.5(AP3B1):c.1286del (p.Gly429fs)
|
|
|
|
NM_003664.5(AP3B1):c.129-14C>T
|
rs904956491
|
|
|
NM_003664.5(AP3B1):c.129-14_129-10del
|
rs982597895
|
|
|
NM_003664.5(AP3B1):c.129-14_129-12del
|
|
|
|
NM_003664.5(AP3B1):c.129-18del
|
|
|
|
NM_003664.5(AP3B1):c.129-18dup
|
rs201281724
|
|
|
NM_003664.5(AP3B1):c.129-19T>C
|
|
|
|
NM_003664.5(AP3B1):c.129-1G>A
|
|
|
|
NM_003664.5(AP3B1):c.129-9_129-8del
|
rs2112562563
|
|
|
NM_003664.5(AP3B1):c.1292G>A (p.Cys431Tyr)
|
rs751127592
|
|
|
NM_003664.5(AP3B1):c.1297A>G (p.Thr433Ala)
|
|
|
|
NM_003664.5(AP3B1):c.1301A>C (p.Asn434Thr)
|
rs1289085829
|
|
|
NM_003664.5(AP3B1):c.1301A>G (p.Asn434Ser)
|
|
|
|
NM_003664.5(AP3B1):c.1323G>A (p.Thr441=)
|
|
|
|
NM_003664.5(AP3B1):c.1342T>C (p.Cys448Arg)
|
|
|
|
NM_003664.5(AP3B1):c.1347G>A (p.Leu449=)
|
|
|
|
NM_003664.5(AP3B1):c.1350G>C (p.Leu450=)
|
|
|
|
NM_003664.5(AP3B1):c.1356C>T (p.Asn452=)
|
|
|
|
NM_003664.5(AP3B1):c.1363+10C>T
|
rs2112370696
|
|
|
NM_003664.5(AP3B1):c.1363+1G>A
|
|
|
|
NM_003664.5(AP3B1):c.1364-15T>G
|
|
|
|
NM_003664.5(AP3B1):c.1364-2A>G
|
rs2112357253
|
|
|
NM_003664.5(AP3B1):c.1364-4del
|
rs1188997693
|
|
|
NM_003664.5(AP3B1):c.1367T>A (p.Ile456Lys)
|
|
|
|
NM_003664.5(AP3B1):c.1379_1382dup (p.Ser461fs)
|
|
|
|
NM_003664.5(AP3B1):c.1387GTT[1] (p.Val464del)
|
|
|
|
NM_003664.5(AP3B1):c.1390G>C (p.Val464Leu)
|
|
|
|
NM_003664.5(AP3B1):c.1392T>G (p.Val464=)
|
rs886060774
|
|
|
NM_003664.5(AP3B1):c.1408del (p.Gln470fs)
|
|
|
|
NM_003664.5(AP3B1):c.1411A>C (p.Met471Leu)
|
rs556638927
|
|
|
NM_003664.5(AP3B1):c.1427A>T (p.His476Leu)
|
|
|
|
NM_003664.5(AP3B1):c.1435A>C (p.Ile479Leu)
|
rs2112357067
|
|
|
NM_003664.5(AP3B1):c.1436T>C (p.Ile479Thr)
|
rs757746058
|
|
|
NM_003664.5(AP3B1):c.1438A>G (p.Ile480Val)
|
|
|
|
NM_003664.5(AP3B1):c.1473+15A>C
|
|
|
|
NM_003664.5(AP3B1):c.1473+6T>C
|
rs1000881595
|
|
|
NM_003664.5(AP3B1):c.1474-18A>T
|
|
|
|
NM_003664.5(AP3B1):c.1474-2A>G
|
|
|
|
NM_003664.5(AP3B1):c.1474-7072_1650+921del
|
|
|
|
NM_003664.5(AP3B1):c.1491A>G (p.Ala497=)
|
rs2112327078
|
|
|
NM_003664.5(AP3B1):c.1495A>G (p.Ile499Val)
|
|
|
|
NM_003664.5(AP3B1):c.1509T>A (p.Ile503=)
|
rs1480759584
|
|
|
NM_003664.5(AP3B1):c.1521_1522del (p.Cys507_Glu508delinsTer)
|
|
|
|
NM_003664.5(AP3B1):c.1525C>T (p.Arg509Ter)
|
rs121908906
|
|
|
NM_003664.5(AP3B1):c.1526G>A (p.Arg509Gln)
|
rs193920974
|
|
|
NM_003664.5(AP3B1):c.1531C>T (p.Pro511Ser)
|
|
|
|
NM_003664.5(AP3B1):c.1544C>G (p.Pro515Arg)
|
rs1753134356
|
|
|
NM_003664.5(AP3B1):c.1550T>C (p.Val517Ala)
|
rs2112326945
|
|
|
NM_003664.5(AP3B1):c.1562T>C (p.Met521Thr)
|
|
|
|
NM_003664.5(AP3B1):c.1580G>A (p.Ser527Asn)
|
rs779511911
|
|
|
NM_003664.5(AP3B1):c.1589A>G (p.Asp530Gly)
|
|
|
|
NM_003664.5(AP3B1):c.1596A>G (p.Val532=)
|
|
|
|
NM_003664.5(AP3B1):c.15T>C (p.Ser5=)
|
|
|
|
NM_003664.5(AP3B1):c.1605G>A (p.Gln535=)
|
rs200769344
|
|
|
NM_003664.5(AP3B1):c.1608A>G (p.Ile536Met)
|
|
|
|
NM_003664.5(AP3B1):c.1614T>C (p.Asn538=)
|
|
|
|
NM_003664.5(AP3B1):c.1619dup (p.Ala541fs)
|
rs1753129765
|
|
|
NM_003664.5(AP3B1):c.1627T>C (p.Leu543=)
|
|
|
|
NM_003664.5(AP3B1):c.1635A>C (p.Leu545Phe)
|
|
|
|
NM_003664.5(AP3B1):c.1650+12del
|
rs563512609
|
|
|
NM_003664.5(AP3B1):c.1651-11T>C
|
|
|
|
NM_003664.5(AP3B1):c.1651-14dup
|
rs1333771177
|
|
|
NM_003664.5(AP3B1):c.1651-1G>A
|
|
|
|
NM_003664.5(AP3B1):c.1651-9T>C
|
rs2112301377
|
|
|
NM_003664.5(AP3B1):c.1675T>A (p.Leu559Ile)
|
rs770281960
|
|
|
NM_003664.5(AP3B1):c.1675T>C (p.Leu559=)
|
|
|
|
NM_003664.5(AP3B1):c.1702T>C (p.Tyr568His)
|
rs1752591935
|
|
|
NM_003664.5(AP3B1):c.1707C>T (p.Asp569=)
|
|
|
|
NM_003664.5(AP3B1):c.1717C>T (p.Arg573Cys)
|
|
|
|
NM_003664.5(AP3B1):c.1721C>T (p.Thr574Ile)
|
|
|
|
NM_003664.5(AP3B1):c.1734G>A (p.Arg578=)
|
|
|
|
NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg)
|
rs121908904
|
|
|
NM_003664.5(AP3B1):c.1747C>G (p.Pro583Ala)
|
rs1580385068
|
|
|
NM_003664.5(AP3B1):c.1754T>C (p.Val585Ala)
|
rs6453373
|
|
|
NM_003664.5(AP3B1):c.1754del (p.Val585fs)
|
rs869312836
|
|
|
NM_003664.5(AP3B1):c.1756A>G (p.Lys586Glu)
|
|
|
|
NM_003664.5(AP3B1):c.1762G>A (p.Gly588Arg)
|
|
|
|
NM_003664.5(AP3B1):c.1764A>G (p.Gly588=)
|
|
|
|
NM_003664.5(AP3B1):c.177del (p.Lys59fs)
|
rs869312838
|
|
|
NM_003664.5(AP3B1):c.1798G>T (p.Ala600Ser)
|
rs149263390
|
|
|
NM_003664.5(AP3B1):c.1811C>T (p.Ala604Val)
|
rs2112300913
|
|
|
NM_003664.5(AP3B1):c.1812A>G (p.Ala604=)
|
|
|
|
NM_003664.5(AP3B1):c.1816C>T (p.Leu606=)
|
|
|
|
NM_003664.5(AP3B1):c.1836A>T (p.Lys612Asn)
|
rs1752586022
|
|
|
NM_003664.5(AP3B1):c.1837+2T>C
|
rs2112300864
|
|
|
NM_003664.5(AP3B1):c.1838-13C>G
|
|
|
|
NM_003664.5(AP3B1):c.1838-16T>C
|
|
|
|
NM_003664.5(AP3B1):c.1838-2_1838-1insAAA
|
rs1290648194
|
|
|
NM_003664.5(AP3B1):c.1840A>G (p.Arg614Gly)
|
rs769757592
|
|
|
NM_003664.5(AP3B1):c.1852C>T (p.Gln618Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1853A>G (p.Gln618Arg)
|
rs2112298805
|
|
|
NM_003664.5(AP3B1):c.1868C>T (p.Ser623Phe)
|
rs755372821
|
|
|
NM_003664.5(AP3B1):c.1873A>G (p.Thr625Ala)
|
rs199908785
|
|
|
NM_003664.5(AP3B1):c.1874C>G (p.Thr625Ser)
|
|
|
|
NM_003664.5(AP3B1):c.1874C>T (p.Thr625Ile)
|
|
|
|
NM_003664.5(AP3B1):c.1878C>T (p.Leu626=)
|
|
|
|
NM_003664.5(AP3B1):c.1882A>G (p.Ile628Val)
|
|
|
|
NM_003664.5(AP3B1):c.1892C>T (p.Thr631Ile)
|
rs1752538898
|
|
|
NM_003664.5(AP3B1):c.1907T>G (p.Leu636Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1914T>C (p.Asn638=)
|
|
|
|
NM_003664.5(AP3B1):c.1929G>T (p.Ala643=)
|
|
|
|
NM_003664.5(AP3B1):c.1930_1937del (p.Pro644fs)
|
|
|
|
NM_003664.5(AP3B1):c.1932C>A (p.Pro644=)
|
|
|
|
NM_003664.5(AP3B1):c.1933G>A (p.Asp645Asn)
|
rs797045241
|
|
|
NM_003664.5(AP3B1):c.1935C>T (p.Asp645=)
|
|
|
|
NM_003664.5(AP3B1):c.1937C>T (p.Pro646Leu)
|
|
|
|
NM_003664.5(AP3B1):c.1945C>T (p.Arg649Ter)
|
|
|
|
NM_003664.5(AP3B1):c.1947A>T (p.Arg649=)
|
|
|
|
NM_003664.5(AP3B1):c.1951G>C (p.Val651Leu)
|
rs755219130
|
|
|
NM_003664.5(AP3B1):c.1968+8del
|
rs2112298486
|
|
|
NM_003664.5(AP3B1):c.1969-17T>C
|
|
|
|
NM_003664.5(AP3B1):c.1969-20T>A
|
rs1394988514
|
|
|
NM_003664.5(AP3B1):c.1969-20T>C
|
rs1394988514
|
|
|
NM_003664.5(AP3B1):c.1973_1983dup (p.Pro662fs)
|
|
|
|
NM_003664.5(AP3B1):c.1975G>T (p.Glu659Ter)
|
rs121908907
|
|
|
NM_003664.5(AP3B1):c.1984C>G (p.Pro662Ala)
|
rs749489841
|
|
|
NM_003664.5(AP3B1):c.1988C>T (p.Ala663Val)
|
rs2112265534
|
|
|
NM_003664.5(AP3B1):c.2001G>A (p.Lys667=)
|
|
|
|
NM_003664.5(AP3B1):c.2009A>C (p.Asn670Thr)
|
rs757825991
|
|
|
NM_003664.5(AP3B1):c.2012C>T (p.Ser671Phe)
|
rs886060773
|
|
|
NM_003664.5(AP3B1):c.2015C>G (p.Ala672Gly)
|
rs2112265444
|
|
|
NM_003664.5(AP3B1):c.2027A>G (p.Tyr676Cys)
|
rs759438615
|
|
|
NM_003664.5(AP3B1):c.2034A>G (p.Glu678=)
|
rs766320781
|
|
|
NM_003664.5(AP3B1):c.204+14T>A
|
|
|
|
NM_003664.5(AP3B1):c.205-10del
|
|
|
|
NM_003664.5(AP3B1):c.205-12T>C
|
|
|
|
NM_003664.5(AP3B1):c.205-20C>T
|
|
|
|
NM_003664.5(AP3B1):c.2066G>T (p.Ser689Ile)
|
|
|
|
NM_003664.5(AP3B1):c.2077+18T>C
|
|
|
|
NM_003664.5(AP3B1):c.2078-11C>T
|
|
|
|
NM_003664.5(AP3B1):c.2078-1G>A
|
|
|
|
NM_003664.5(AP3B1):c.2087C>G (p.Ser696Cys)
|
|
|
|
NM_003664.5(AP3B1):c.2088T>C (p.Ser696=)
|
rs200618231
|
|
|
NM_003664.5(AP3B1):c.2093G>A (p.Ser698Asn)
|
rs886060772
|
|
|
NM_003664.5(AP3B1):c.2095G>A (p.Glu699Lys)
|
|
|
|
NM_003664.5(AP3B1):c.2100T>C (p.Ser700=)
|
|
|
|
NM_003664.5(AP3B1):c.2112C>T (p.Gly704=)
|
rs35976098
|
|
|
NM_003664.5(AP3B1):c.211G>A (p.Ala71Thr)
|
|
|
|
NM_003664.5(AP3B1):c.2122_2123delinsTT (p.Glu708Leu)
|
rs2112260341
|
|
|
NM_003664.5(AP3B1):c.2129G>A (p.Gly710Glu)
|
rs777032367
|
|
|
NM_003664.5(AP3B1):c.2129G>C (p.Gly710Ala)
|
rs777032367
|
|
|
NM_003664.5(AP3B1):c.2129G>T (p.Gly710Val)
|
rs777032367
|
|
|
NM_003664.5(AP3B1):c.2138A>G (p.Asn713Ser)
|
|
|
|
NM_003664.5(AP3B1):c.213A>G (p.Ala71=)
|
|
|
|
NM_003664.5(AP3B1):c.2146A>C (p.Ser716Arg)
|
rs1365271615
|
|
|
NM_003664.5(AP3B1):c.2148C>T (p.Ser716=)
|
|
|
|
NM_003664.5(AP3B1):c.2160C>T (p.Ser720=)
|
|
|
|
NM_003664.5(AP3B1):c.2162C>G (p.Ser721Cys)
|
rs2112260253
|
|
|
NM_003664.5(AP3B1):c.2190G>A (p.Arg730=)
|
rs2112260185
|
|
|
NM_003664.5(AP3B1):c.2198G>T (p.Gly733Val)
|
|
|
|
NM_003664.5(AP3B1):c.2202A>C (p.Leu734=)
|
|
|
|
NM_003664.5(AP3B1):c.2218G>A (p.Ala740Thr)
|
|
|
|
NM_003664.5(AP3B1):c.2220C>T (p.Ala740=)
|
|
|
|
NM_003664.5(AP3B1):c.2250-6G>A
|
|
|
|
NM_003664.5(AP3B1):c.2257G>A (p.Glu753Lys)
|
|
|
|
NM_003664.5(AP3B1):c.2270A>G (p.Lys757Arg)
|
rs745461947
|
|
|
NM_003664.5(AP3B1):c.2279A>G (p.Glu760Gly)
|
rs2112252523
|
|
|
NM_003664.5(AP3B1):c.2297del (p.Asp766fs)
|
|
|
|
NM_003664.5(AP3B1):c.2322A>G (p.Ser774=)
|
|
|
|
NM_003664.5(AP3B1):c.2324T>C (p.Ile775Thr)
|
rs62001050
|
|
|
NM_003664.5(AP3B1):c.2326G>A (p.Glu776Lys)
|
|
|
|
NM_003664.5(AP3B1):c.2332A>C (p.Ser778Arg)
|
rs1334114879
|
|
|
NM_003664.5(AP3B1):c.2333G>A (p.Ser778Asn)
|
|
|
|
NM_003664.5(AP3B1):c.2341G>A (p.Asp781Asn)
|
rs532221135
|
|
|
NM_003664.5(AP3B1):c.2353G>C (p.Glu785Gln)
|
|
|
|
NM_003664.5(AP3B1):c.2354_2355del (p.Glu785fs)
|
|
|
|
NM_003664.5(AP3B1):c.236T>C (p.Leu79Pro)
|
rs1747105618
|
|
|
NM_003664.5(AP3B1):c.237_238del (p.Phe80fs)
|
rs2112518616
|
|
|
NM_003664.5(AP3B1):c.2382C>T (p.Ser794=)
|
rs920648897
|
|
|
NM_003664.5(AP3B1):c.2389G>A (p.Val797Ile)
|
rs770603726
|
|
|
NM_003664.5(AP3B1):c.2397+7del
|
|
|
|
NM_003664.5(AP3B1):c.2398-12del
|
|
|
|
NM_003664.5(AP3B1):c.2398-16A>G
|
|
|
|
NM_003664.5(AP3B1):c.2398-18A>G
|
|
|
|
NM_003664.5(AP3B1):c.2398_2401del (p.Glu800fs)
|
|
|
|
NM_003664.5(AP3B1):c.2401A>G (p.Lys801Glu)
|
|
|
|
NM_003664.5(AP3B1):c.2405A>G (p.Glu802Gly)
|
rs886060771
|
|
|
NM_003664.5(AP3B1):c.2409_2411del (p.Lys804del)
|
rs199702315
|
|
|
NM_003664.5(AP3B1):c.2411A>C (p.Lys804Thr)
|
rs1028498771
|
|
|
NM_003664.5(AP3B1):c.2427A>G (p.Arg809=)
|
|
|
|
NM_003664.5(AP3B1):c.2433T>C (p.Pro811=)
|
rs2112233233
|
|
|
NM_003664.5(AP3B1):c.2438C>G (p.Thr813Ser)
|
|
|
|
NM_003664.5(AP3B1):c.2452C>G (p.Leu818Val)
|
rs1751097725
|
|
|
NM_003664.5(AP3B1):c.2455C>T (p.Leu819=)
|
|
|
|
NM_003664.5(AP3B1):c.2470+9dup
|
|
|
|
NM_003664.5(AP3B1):c.2471-16G>A
|
rs760243722
|
|
|
NM_003664.5(AP3B1):c.2471-16G>C
|
|
|
|
NM_003664.5(AP3B1):c.2471-20A>G
|
|
|
|
NM_003664.5(AP3B1):c.2474A>G (p.Asn825Ser)
|
rs1580331287
|
|
|
NM_003664.5(AP3B1):c.2478A>G (p.Pro826=)
|
|
|
|
NM_003664.5(AP3B1):c.2490A>G (p.Pro830=)
|
|
|
|
NM_003664.5(AP3B1):c.2492T>G (p.Val831Gly)
|
|
|
|
NM_003664.5(AP3B1):c.2513T>G (p.Leu838Arg)
|
|
|
|
NM_003664.5(AP3B1):c.2531C>T (p.Ala844Val)
|
|
|
|
NM_003664.5(AP3B1):c.2542G>A (p.Gly848Ser)
|
|
|
|
NM_003664.5(AP3B1):c.2548C>A (p.His850Asn)
|
rs201936976
|
|
|
NM_003664.5(AP3B1):c.2567C>T (p.Ser856Leu)
|
|
|
|
NM_003664.5(AP3B1):c.2568A>G (p.Ser856=)
|
|
|
|
NM_003664.5(AP3B1):c.2573T>A (p.Ile858Asn)
|
|
|
|
NM_003664.5(AP3B1):c.2577+9T>C
|
|
|
|
NM_003664.5(AP3B1):c.2578-7G>A
|
|
|
|
NM_003664.5(AP3B1):c.2585C>A (p.Thr862Asn)
|
|
|
|
NM_003664.5(AP3B1):c.2601A>G (p.Pro867=)
|
|
|
|
NM_003664.5(AP3B1):c.2603C>T (p.Thr868Met)
|
rs1398038084
|
|
|
NM_003664.5(AP3B1):c.2607A>G (p.Lys869=)
|
|
|
|
NM_003664.5(AP3B1):c.2629A>G (p.Met877Val)
|
|
|
|
NM_003664.5(AP3B1):c.262G>C (p.Ala88Pro)
|
|
|
|
NM_003664.5(AP3B1):c.2632A>G (p.Ser878Gly)
|
rs2112100501
|
|
|
NM_003664.5(AP3B1):c.2640del (p.Gly881fs)
|
|
|
|
NM_003664.5(AP3B1):c.2641G>C (p.Gly881Arg)
|
rs2112100469
|
|
|
NM_003664.5(AP3B1):c.2656T>C (p.Tyr886His)
|
rs2112100439
|
|
|
NM_003664.5(AP3B1):c.265A>G (p.Ser89Gly)
|
rs748322548
|
|
|
NM_003664.5(AP3B1):c.2673G>A (p.Gln891=)
|
rs770455413
|
|
|
NM_003664.5(AP3B1):c.2673G>C (p.Gln891His)
|
rs770455413
|
|
|
NM_003664.5(AP3B1):c.2674C>A (p.Pro892Thr)
|
rs2112100401
|
|
|
NM_003664.5(AP3B1):c.2675_2679del (p.Pro892fs)
|
|
|
|
NM_003664.5(AP3B1):c.2683T>A (p.Phe895Ile)
|
rs1747942141
|
|
|
NM_003664.5(AP3B1):c.2689_2690delinsTT (p.Asp897Phe)
|
|
|
|
NM_003664.5(AP3B1):c.2694_2712del (p.Met899fs)
|
rs2112100310
|
|
|
NM_003664.5(AP3B1):c.2695_2696insATC (p.Met899delinsAsnLeu)
|
|
|
|
NM_003664.5(AP3B1):c.26A>G (p.Asn9Ser)
|
rs868369063
|
|
|
NM_003664.5(AP3B1):c.2702C>G (p.Ser901Cys)
|
rs869312835
|
|
|
NM_003664.5(AP3B1):c.2715A>G (p.Thr905=)
|
|
|
|
NM_003664.5(AP3B1):c.2725A>G (p.Thr909Ala)
|
|
|
|
NM_003664.5(AP3B1):c.2726C>T (p.Thr909Ile)
|
rs1747940185
|
|
|
NM_003664.5(AP3B1):c.2730T>G (p.Thr910=)
|
|
|
|
NM_003664.5(AP3B1):c.2734C>A (p.Arg912=)
|
|
|
|
NM_003664.5(AP3B1):c.2734C>T (p.Arg912Ter)
|
|
|
|
NM_003664.5(AP3B1):c.2738del (p.Lys913fs)
|
rs2112100217
|
|
|
NM_003664.5(AP3B1):c.2741T>C (p.Ile914Thr)
|
|
|
|
NM_003664.5(AP3B1):c.2757del (p.Ile919fs)
|
rs2112100189
|
|
|
NM_003664.5(AP3B1):c.2759G>A (p.Gly920Glu)
|
|
|
|
NM_003664.5(AP3B1):c.2765A>G (p.Lys922Arg)
|
rs1554059568
|
|
|
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn)
|
rs201179527
|
|
|
NM_003664.5(AP3B1):c.2769A>G (p.Lys923=)
|
rs201179527
|
|
|
NM_003664.5(AP3B1):c.2772T>A (p.Leu924=)
|
|
|
|
NM_003664.5(AP3B1):c.2780G>A (p.Gly927Asp)
|
rs866308304
|
|
|
NM_003664.5(AP3B1):c.2783T>C (p.Met928Thr)
|
|
|
|
NM_003664.5(AP3B1):c.279+18A>G
|
|
|
|
NM_003664.5(AP3B1):c.279+19A>G
|
rs756610617
|
|
|
NM_003664.5(AP3B1):c.2793T>C (p.His931=)
|
rs2112100041
|
|
|
NM_003664.5(AP3B1):c.280-14_280-13dup
|
rs5868908
|
|
|
NM_003664.5(AP3B1):c.280-16G>T
|
|
|
|
NM_003664.5(AP3B1):c.280-2A>G
|
|
|
|
NM_003664.5(AP3B1):c.280-4_280-3insG
|
|
|
|
NM_003664.5(AP3B1):c.280-5A>T
|
|
|
|
NM_003664.5(AP3B1):c.280-6T>A
|
|
|
|
NM_003664.5(AP3B1):c.280-6del
|
rs5868908
|
|
|
NM_003664.5(AP3B1):c.280-6dup
|
rs5868908
|
|
|
NM_003664.5(AP3B1):c.2801del (p.Asn934fs)
|
rs2112100020
|
|
|
NM_003664.5(AP3B1):c.2809+15T>C
|
|
|
|
NM_003664.5(AP3B1):c.2809+20T>G
|
rs2112099938
|
|
|
NM_003664.5(AP3B1):c.2810-10T>C
|
|
|
|
NM_003664.5(AP3B1):c.2810-7T>A
|
rs1747713195
|
|
|
NM_003664.5(AP3B1):c.2810-9A>G
|
|
|
|
NM_003664.5(AP3B1):c.2812T>C (p.Ser938Pro)
|
rs1002296977
|
|
|
NM_003664.5(AP3B1):c.2823T>C (p.Pro941=)
|
|
|
|
NM_003664.5(AP3B1):c.2832C>T (p.Ser944=)
|
|
|
|
NM_003664.5(AP3B1):c.2856C>T (p.Asp952=)
|
rs912620993
|
|
|
NM_003664.5(AP3B1):c.2891T>C (p.Leu964Ser)
|
|
|
|
NM_003664.5(AP3B1):c.2893T>C (p.Cys965Arg)
|
rs2112091461
|
|
|
NM_003664.5(AP3B1):c.2894+10A>G
|
|
|
|
NM_003664.5(AP3B1):c.2894+1G>T
|
|
|
|
NM_003664.5(AP3B1):c.2894+6T>C
|
|
|
|
NM_003664.5(AP3B1):c.2895-12G>T
|
|
|
|
NM_003664.5(AP3B1):c.2898del (p.Lys967fs)
|
|
|
|
NM_003664.5(AP3B1):c.28G>A (p.Glu10Lys)
|
rs1749672035
|
|
|
NM_003664.5(AP3B1):c.2906A>G (p.Asp969Gly)
|
rs886060770
|
|
|
NM_003664.5(AP3B1):c.2907T>C (p.Asp969=)
|
|
|
|
NM_003664.5(AP3B1):c.2932C>T (p.Pro978Ser)
|
rs1580247322
|
|
|
NM_003664.5(AP3B1):c.2947C>A (p.Leu983Ile)
|
rs745653147
|
|
|
NM_003664.5(AP3B1):c.2963T>C (p.Met988Thr)
|
|
|
|
NM_003664.5(AP3B1):c.2983A>G (p.Lys995Glu)
|
|
|
|
NM_003664.5(AP3B1):c.2993-12T>C
|
|
|
|
NM_003664.5(AP3B1):c.2993-3C>T
|
rs1746824105
|
|
|
NM_003664.5(AP3B1):c.2994A>T (p.Gly998=)
|
|
|
|
NM_003664.5(AP3B1):c.3000A>G (p.Leu1000=)
|
|
|
|
NM_003664.5(AP3B1):c.3015_3016dup (p.Thr1006fs)
|
|
|
|
NM_003664.5(AP3B1):c.3020CTG[1] (p.Ala1008del)
|
rs111935323
|
|
|
NM_003664.5(AP3B1):c.3060T>C (p.Ser1020=)
|
|
|
|
NM_003664.5(AP3B1):c.3062T>C (p.Val1021Ala)
|
rs781365567
|
|
|
NM_003664.5(AP3B1):c.3064A>G (p.Ile1022Val)
|
|
|
|
NM_003664.5(AP3B1):c.310C>G (p.Arg104Gly)
|
rs1746480237
|
|
|
NM_003664.5(AP3B1):c.310C>T (p.Arg104Ter)
|
rs1746480237
|
|
|
NM_003664.5(AP3B1):c.3118G>C (p.Asp1040His)
|
rs764848036
|
|
|
NM_003664.5(AP3B1):c.311G>T (p.Arg104Leu)
|
|
|
|
NM_003664.5(AP3B1):c.3123T>C (p.Asn1041=)
|
rs1561354415
|
|
|
NM_003664.5(AP3B1):c.3128A>G (p.His1043Arg)
|
rs2112054033
|
|
|
NM_003664.5(AP3B1):c.3131+18C>T
|
|
|
|
NM_003664.5(AP3B1):c.3131+19G>C
|
rs769957838
|
|
|
NM_003664.5(AP3B1):c.3132-16C>T
|
|
|
|
NM_003664.5(AP3B1):c.3132-5T>C
|
rs2112028477
|
|
|
NM_003664.5(AP3B1):c.3163T>C (p.Leu1055=)
|
rs748447113
|
|
|
NM_003664.5(AP3B1):c.3188A>G (p.Lys1063Arg)
|
|
|
|
NM_003664.5(AP3B1):c.3195C>G (p.Gly1065=)
|
rs751258161
|
|
|
NM_003664.5(AP3B1):c.3201A>T (p.Thr1067=)
|
|
|
|
NM_003664.5(AP3B1):c.3204C>G (p.Ala1068=)
|
|
|
|
NM_003664.5(AP3B1):c.3237T>A (p.Ile1079=)
|
rs1192574805
|
|
|
NM_003664.5(AP3B1):c.325C>A (p.Gln109Lys)
|
rs1397315776
|
|
|
NM_003664.5(AP3B1):c.3264G>A (p.Lys1088=)
|
|
|
|
NM_003664.5(AP3B1):c.3265C>G (p.Pro1089Ala)
|
rs137901104
|
|
|
NM_003664.5(AP3B1):c.3282G>A (p.Gly1094=)
|
|
|
|
NM_003664.5(AP3B1):c.328C>G (p.Gln110Glu)
|
|
|
|
NM_003664.5(AP3B1):c.338C>T (p.Ala113Val)
|
|
|
|
NM_003664.5(AP3B1):c.349A>G (p.Ile117Val)
|
|
|
|
NM_003664.5(AP3B1):c.34T>C (p.Ser12Pro)
|
rs2112607296
|
|
|
NM_003664.5(AP3B1):c.353G>A (p.Ser118Asn)
|
rs1746477844
|
|
|
NM_003664.5(AP3B1):c.364C>T (p.Arg122Ter)
|
|
|
|
NM_003664.5(AP3B1):c.376-11A>C
|
|
|
|
NM_003664.5(AP3B1):c.376-13G>A
|
rs1185982935
|
|
|
NM_003664.5(AP3B1):c.387A>T (p.Gln129His)
|
rs1229682546
|
|
|
NM_003664.5(AP3B1):c.395G>C (p.Arg132Pro)
|
|
|
|
NM_003664.5(AP3B1):c.39A>G (p.Gly13=)
|
rs1488407842
|
|
|
NM_003664.5(AP3B1):c.403G>A (p.Ala135Thr)
|
rs1270734050
|
|
|
NM_003664.5(AP3B1):c.425_427dup (p.Ile142dup)
|
rs759424724
|
|
|
NM_003664.5(AP3B1):c.439A>G (p.Ile147Val)
|
rs2112494710
|
|
|
NM_003664.5(AP3B1):c.454A>C (p.Met152Leu)
|
rs2112494693
|
|
|
NM_003664.5(AP3B1):c.482A>G (p.Asp161Gly)
|
|
|
|
NM_003664.5(AP3B1):c.513C>G (p.Ala171=)
|
rs2112494604
|
|
|
NM_003664.5(AP3B1):c.529T>C (p.Leu177=)
|
|
|
|
NM_003664.5(AP3B1):c.536+8C>A
|
|
|
|
NM_003664.5(AP3B1):c.543_553del (p.Asp181fs)
|
|
|
|
NM_003664.5(AP3B1):c.547G>C (p.Glu183Gln)
|
|
|
|
NM_003664.5(AP3B1):c.566T>C (p.Ile189Thr)
|
|
|
|
NM_003664.5(AP3B1):c.570A>G (p.Glu190=)
|
rs2112491939
|
|
|
NM_003664.5(AP3B1):c.603+16T>G
|
rs2112491852
|
|
|
NM_003664.5(AP3B1):c.604-17A>G
|
|
|
|
NM_003664.5(AP3B1):c.63T>C (p.Gly21=)
|
rs776252237
|
|
|
NM_003664.5(AP3B1):c.647C>T (p.Pro216Leu)
|
rs762212366
|
|
|
NM_003664.5(AP3B1):c.65A>T (p.Gln22Leu)
|
rs1302695682
|
|
|
NM_003664.5(AP3B1):c.681C>G (p.Arg227=)
|
|
|
|
NM_003664.5(AP3B1):c.702G>T (p.Val234=)
|
rs1745952689
|
|
|
NM_003664.5(AP3B1):c.705T>C (p.Asp235=)
|
rs779084730
|
|
|
NM_003664.5(AP3B1):c.716G>A (p.Trp239Ter)
|
rs869312837
|
|
|
NM_003664.5(AP3B1):c.716G>T (p.Trp239Leu)
|
rs869312837
|
|
|
NM_003664.5(AP3B1):c.720G>A (p.Gly240=)
|
rs886060775
|
|
|
NM_003664.5(AP3B1):c.723G>A (p.Gln241=)
|
|
|
|
NM_003664.5(AP3B1):c.724dup (p.Val242fs)
|
|
|
|
NM_003664.5(AP3B1):c.725T>C (p.Val242Ala)
|
rs1580498432
|
|
|
NM_003664.5(AP3B1):c.730A>G (p.Ile244Val)
|
|
|
|
NM_003664.5(AP3B1):c.734T>C (p.Ile245Thr)
|
rs753890496
|
|
|
NM_003664.5(AP3B1):c.738C>T (p.His246=)
|
rs912124016
|
|
|
NM_003664.5(AP3B1):c.74C>T (p.Thr25Ile)
|
rs2112607227
|
|
|
NM_003664.5(AP3B1):c.750A>G (p.Arg250=)
|
|
|
|
NM_003664.5(AP3B1):c.753T>G (p.Tyr251Ter)
|
|
|
|
NM_003664.5(AP3B1):c.754G>A (p.Ala252Thr)
|
|
|
|
NM_003664.5(AP3B1):c.757C>T (p.Arg253Trp)
|
|
|
|
NM_003664.5(AP3B1):c.759G>A (p.Arg253=)
|
|
|
|
NM_003664.5(AP3B1):c.764A>T (p.Gln255Leu)
|
rs1260956613
|
|
|
NM_003664.5(AP3B1):c.778del (p.Trp260fs)
|
|
|
|
NM_003664.5(AP3B1):c.779G>A (p.Trp260Ter)
|
rs1745947620
|
|
|
NM_003664.5(AP3B1):c.786+15G>A
|
|
|
|
NM_003664.5(AP3B1):c.786+1G>A
|
|
|
|
NM_003664.5(AP3B1):c.786+6T>A
|
rs1332793203
|
|
|
NM_003664.5(AP3B1):c.787G>A (p.Gly263Ser)
|
rs1044368703
|
|
|
NM_003664.5(AP3B1):c.788G>A (p.Gly263Asp)
|
rs1744376789
|
|
|
NM_003664.5(AP3B1):c.830A>G (p.Asp277Gly)
|
rs147761913
|
|
|
NM_003664.5(AP3B1):c.835G>A (p.Asp279Asn)
|
rs751922416
|
|
|
NM_003664.5(AP3B1):c.836A>T (p.Asp279Val)
|
rs1744372518
|
|
|
NM_003664.5(AP3B1):c.841A>G (p.Lys281Glu)
|
rs1437339620
|
|
|
NM_003664.5(AP3B1):c.84T>A (p.Ile28=)
|
|
|
|
NM_003664.5(AP3B1):c.86C>T (p.Ser29Phe)
|
|
|
|
NM_003664.5(AP3B1):c.878T>C (p.Met293Thr)
|
|
|
|
NM_003664.5(AP3B1):c.890A>T (p.His297Leu)
|
rs1744369394
|
|
|
NM_003664.5(AP3B1):c.894A>G (p.Arg298=)
|
rs1580453466
|
|
|
NM_003664.5(AP3B1):c.8G>C (p.Ser3Thr)
|
|
|
|
NM_003664.5(AP3B1):c.904A>T (p.Arg302Ter)
|
rs121908905
|
|
|
NM_003664.5(AP3B1):c.905G>A (p.Arg302Lys)
|
rs1744368521
|
|
|
NM_003664.5(AP3B1):c.908A>C (p.Asn303Thr)
|
rs2112414100
|
|
|
NM_003664.5(AP3B1):c.915G>A (p.Lys305=)
|
rs751927249
|
|
|
NM_003664.5(AP3B1):c.916C>T (p.Pro306Ser)
|
rs1456578906
|
|
|
NM_003664.5(AP3B1):c.938C>A (p.Ala313Asp)
|
|
|
|
NM_003664.5(AP3B1):c.942+17A>T
|
|
|
|
NM_003664.5(AP3B1):c.942+1G>T
|
|
|
|
NM_003664.5(AP3B1):c.942+8A>G
|
|
|
|
NM_003664.5(AP3B1):c.943-9A>G
|
rs776758618
|
|
|
NM_003664.5(AP3B1):c.944T>C (p.Val315Ala)
|
rs1744194194
|
|
|
NM_003664.5(AP3B1):c.946G>A (p.Val316Ile)
|
rs1744194052
|
|
|
NM_003664.5(AP3B1):c.957T>G (p.Val319=)
|
rs2112405584
|
|
|
NM_003664.5(AP3B1):c.966G>A (p.Leu322=)
|
|
|
|
NM_003664.5(AP3B1):c.973C>T (p.His325Tyr)
|
|
|
|
NM_003664.5(AP3B1):c.975C>T (p.His325=)
|
rs2112405548
|
|
|
NM_003664.5(AP3B1):c.976A>G (p.Ile326Val)
|
rs758789954
|
|
|
NM_003664.5(AP3B1):c.985A>G (p.Lys329Glu)
|
rs2112405535
|
|
|
NM_003664.5(AP3B1):c.994G>T (p.Ala332Ser)
|
rs2112405528
|
|
|
NM_004284.6(CHD1L):c.1954G>A (p.Ala652Thr)
|
rs2102907683
|
|
|
NM_005263.5(GFI1):c.-100+686C>A
|
rs1018517928
|
|
|
NM_005263.5(GFI1):c.100G>A (p.Ala34Thr)
|
|
|
|
NM_005263.5(GFI1):c.1012C>T (p.Arg338Trp)
|
|
|
|
NM_005263.5(GFI1):c.1015C>T (p.Pro339Ser)
|
|
|
|
NM_005263.5(GFI1):c.1065G>A (p.Met355Ile)
|
|
|
|
NM_005263.5(GFI1):c.1071A>G (p.Lys357=)
|
|
|
|
NM_005263.5(GFI1):c.1082T>C (p.Ile361Thr)
|
rs2101563362
|
|
|
NM_005263.5(GFI1):c.108C>T (p.Ser36=)
|
|
|
|
NM_005263.5(GFI1):c.1091-16C>G
|
|
|
|
NM_005263.5(GFI1):c.1091-19C>T
|
|
|
|
NM_005263.5(GFI1):c.1098G>A (p.Lys366=)
|
|
|
|
NM_005263.5(GFI1):c.109C>G (p.Arg37Gly)
|
rs2101582188
|
|
|
NM_005263.5(GFI1):c.1119C>A (p.Cys373Ter)
|
|
|
|
NM_005263.5(GFI1):c.1126G>A (p.Ala376Thr)
|
|
|
|
NM_005263.5(GFI1):c.1132A>G (p.Ser378Gly)
|
|
|
|
NM_005263.5(GFI1):c.113C>G (p.Ala38Gly)
|
|
|
|
NM_005263.5(GFI1):c.1145A>G (p.Asn382Ser)
|
rs28936381
|
|
|
NM_005263.5(GFI1):c.115+10_115+29del
|
rs150506480
|
|
|
NM_005263.5(GFI1):c.115+16G>C
|
|
|
|
NM_005263.5(GFI1):c.115+17G>A
|
|
|
|
NM_005263.5(GFI1):c.115+4C>G
|
|
|
|
NM_005263.5(GFI1):c.115+8G>A
|
rs774875013
|
|
|
NM_005263.5(GFI1):c.116-14C>T
|
|
|
|
NM_005263.5(GFI1):c.116-15G>C
|
|
|
|
NM_005263.5(GFI1):c.1162C>T (p.Arg388Cys)
|
|
|
|
NM_005263.5(GFI1):c.1172C>T (p.Thr391Ile)
|
rs1359056019
|
|
|
NM_005263.5(GFI1):c.1189G>A (p.Gly397Ser)
|
|
|
|
NM_005263.5(GFI1):c.1190G>T (p.Gly397Val)
|
|
|
|
NM_005263.5(GFI1):c.1194C>T (p.Cys398=)
|
rs1348982767
|
|
|
NM_005263.5(GFI1):c.1209G>A (p.Lys403=)
|
|
|
|
NM_005263.5(GFI1):c.123T>G (p.Thr41=)
|
|
|
|
NM_005263.5(GFI1):c.1244G>A (p.Arg415Gln)
|
|
|
|
NM_005263.5(GFI1):c.1245G>T (p.Arg415=)
|
rs376151566
|
|
|
NM_005263.5(GFI1):c.1257T>C (p.His419=)
|
|
|
|
NM_005263.5(GFI1):c.128A>T (p.Asn43Ile)
|
|
|
|
NM_005263.5(GFI1):c.141G>A (p.Ala47=)
|
|
|
|
NM_005263.5(GFI1):c.149A>G (p.Glu50Gly)
|
|
|
|
NM_005263.5(GFI1):c.154C>T (p.Arg52Trp)
|
|
|
|
NM_005263.5(GFI1):c.155G>A (p.Arg52Gln)
|
|
|
|
NM_005263.5(GFI1):c.161G>A (p.Arg54His)
|
|
|
|
NM_005263.5(GFI1):c.167C>G (p.Ser56Cys)
|
|
|
|
NM_005263.5(GFI1):c.169C>T (p.Pro57Ser)
|
|
|
|
NM_005263.5(GFI1):c.170C>T (p.Pro57Leu)
|
|
|
|
NM_005263.5(GFI1):c.171C>G (p.Pro57=)
|
rs200099018
|
|
|
NM_005263.5(GFI1):c.185C>T (p.Thr62Ile)
|
|
|
|
NM_005263.5(GFI1):c.191C>A (p.Ala64Asp)
|
rs1658344685
|
|
|
NM_005263.5(GFI1):c.201_221del (p.Arg67_Asp73del)
|
|
|
|
NM_005263.5(GFI1):c.201_221dup (p.Arg67_Asp73dup)
|
rs759646696
|
|
|
NM_005263.5(GFI1):c.208G>T (p.Ala70Ser)
|
rs1400776565
|
|
|
NM_005263.5(GFI1):c.210A>G (p.Ala70=)
|
|
|
|
NM_005263.5(GFI1):c.210_221del (p.Ser71_Ser74del)
|
rs2101580166
|
|
|
NM_005263.5(GFI1):c.219C>G (p.Asp73Glu)
|
rs1658340230
|
|
|
NM_005263.5(GFI1):c.232A>G (p.Ser78Gly)
|
|
|
|
NM_005263.5(GFI1):c.241G>A (p.Glu81Lys)
|
|
|
|
NM_005263.5(GFI1):c.251C>A (p.Ser84Ter)
|
|
|
|
NM_005263.5(GFI1):c.258T>G (p.Phe86Leu)
|
|
|
|
NM_005263.5(GFI1):c.268T>C (p.Trp90Arg)
|
|
|
|
NM_005263.5(GFI1):c.274C>T (p.Pro92Ser)
|
|
|
|
NM_005263.5(GFI1):c.276C>T (p.Pro92=)
|
rs778939406
|
|
|
NM_005263.5(GFI1):c.278C>G (p.Pro93Arg)
|
|
|
|
NM_005263.5(GFI1):c.298+12C>G
|
|
|
|
NM_005263.5(GFI1):c.298+19C>T
|
|
|
|
NM_005263.5(GFI1):c.299-12G>C
|
rs962841876
|
|
|
NM_005263.5(GFI1):c.299-17C>G
|
|
|
|
NM_005263.5(GFI1):c.299-19T>C
|
rs867973488
|
|
|
NM_005263.5(GFI1):c.299-4A>T
|
|
|
|
NM_005263.5(GFI1):c.299-5del
|
|
|
|
NM_005263.5(GFI1):c.302C>T (p.Ser101Leu)
|
|
|
|
NM_005263.5(GFI1):c.30G>A (p.Lys10=)
|
|
|
|
NM_005263.5(GFI1):c.321A>G (p.Pro107=)
|
|
|
|
NM_005263.5(GFI1):c.322T>C (p.Ser108Pro)
|
rs2101573712
|
|
|
NM_005263.5(GFI1):c.336C>T (p.Ala112=)
|
|
|
|
NM_005263.5(GFI1):c.347C>G (p.Pro116Arg)
|
rs2101573617
|
|
|
NM_005263.5(GFI1):c.351G>A (p.Leu117=)
|
rs2101573590
|
|
|
NM_005263.5(GFI1):c.376G>T (p.Gly126Cys)
|
rs766732454
|
|
|
NM_005263.5(GFI1):c.383C>G (p.Ala128Gly)
|
|
|
|
NM_005263.5(GFI1):c.398G>C (p.Arg133Pro)
|
|
|
|
NM_005263.5(GFI1):c.398G>T (p.Arg133Leu)
|
|
|
|
NM_005263.5(GFI1):c.410A>G (p.Gln137Arg)
|
|
|
|
NM_005263.5(GFI1):c.426T>C (p.Cys142=)
|
|
|
|
NM_005263.5(GFI1):c.427G>A (p.Gly143Arg)
|
rs1245223850
|
|
|
NM_005263.5(GFI1):c.440G>T (p.Arg147Leu)
|
rs1367385969
|
|
|
NM_005263.5(GFI1):c.451C>T (p.Leu151=)
|
rs2101573018
|
|
|
NM_005263.5(GFI1):c.457C>A (p.Leu153Ile)
|
|
|
|
NM_005263.5(GFI1):c.459C>T (p.Leu153=)
|
|
|
|
NM_005263.5(GFI1):c.461dup (p.Cys155fs)
|
rs1658216855
|
|
|
NM_005263.5(GFI1):c.46C>G (p.His16Asp)
|
rs772644896
|
|
|
NM_005263.5(GFI1):c.477G>A (p.Pro159=)
|
rs1249429892
|
|
|
NM_005263.5(GFI1):c.478G>A (p.Glu160Lys)
|
rs2101572785
|
|
|
NM_005263.5(GFI1):c.481C>T (p.Pro161Ser)
|
|
|
|
NM_005263.5(GFI1):c.491C>T (p.Pro164Leu)
|
|
|
|
NM_005263.5(GFI1):c.492G>A (p.Pro164=)
|
|
|
|
NM_005263.5(GFI1):c.492G>T (p.Pro164=)
|
|
|
|
NM_005263.5(GFI1):c.508C>T (p.Pro170Ser)
|
|
|
|
NM_005263.5(GFI1):c.514C>A (p.Arg172=)
|
rs1571216920
|
|
|
NM_005263.5(GFI1):c.514C>G (p.Arg172Gly)
|
rs1571216920
|
|
|
NM_005263.5(GFI1):c.521C>T (p.Ala174Val)
|
|
|
|
NM_005263.5(GFI1):c.522C>G (p.Ala174=)
|
|
|
|
NM_005263.5(GFI1):c.52C>T (p.Pro18Ser)
|
rs1658381767
|
|
|
NM_005263.5(GFI1):c.531G>A (p.Ala177=)
|
|
|
|
NM_005263.5(GFI1):c.533G>C (p.Gly178Ala)
|
rs1329086426
|
|
|
NM_005263.5(GFI1):c.534G>T (p.Gly178=)
|
rs1658207859
|
|
|
NM_005263.5(GFI1):c.538G>A (p.Gly180Arg)
|
rs529448705
|
|
|
NM_005263.5(GFI1):c.539G>A (p.Gly180Glu)
|
|
|
|
NM_005263.5(GFI1):c.542C>A (p.Ala181Glu)
|
|
|
|
NM_005263.5(GFI1):c.548G>T (p.Gly183Val)
|
|
|
|
NM_005263.5(GFI1):c.558C>T (p.Ser186=)
|
rs2101572104
|
|
|
NM_005263.5(GFI1):c.559G>T (p.Ala187Ser)
|
|
|
|
NM_005263.5(GFI1):c.577G>T (p.Ala193Ser)
|
rs765205557
|
|
|
NM_005263.5(GFI1):c.57C>A (p.Arg19=)
|
rs2101582509
|
|
|
NM_005263.5(GFI1):c.57C>T (p.Arg19=)
|
|
|
|
NM_005263.5(GFI1):c.5C>T (p.Pro2Leu)
|
|
|
|
NM_005263.5(GFI1):c.607T>C (p.Phe203Leu)
|
|
|
|
NM_005263.5(GFI1):c.617C>A (p.Ala206Glu)
|
|
|
|
NM_005263.5(GFI1):c.636G>T (p.Glu212Asp)
|
|
|
|
NM_005263.5(GFI1):c.643A>G (p.Thr215Ala)
|
|
|
|
NM_005263.5(GFI1):c.644C>T (p.Thr215Met)
|
|
|
|
NM_005263.5(GFI1):c.65G>A (p.Gly22Glu)
|
|
|
|
NM_005263.5(GFI1):c.660G>T (p.Leu220Phe)
|
|
|
|
NM_005263.5(GFI1):c.669C>G (p.Pro223=)
|
rs747582787
|
|
|
NM_005263.5(GFI1):c.675T>C (p.Arg225=)
|
|
|
|
NM_005263.5(GFI1):c.679C>G (p.His227Asp)
|
|
|
|
NM_005263.5(GFI1):c.682G>C (p.Gly228Arg)
|
rs779127899
|
|
|
NM_005263.5(GFI1):c.691G>T (p.Ala231Ser)
|
rs1268992636
|
|
|
NM_005263.5(GFI1):c.701G>A (p.Gly234Asp)
|
|
|
|
NM_005263.5(GFI1):c.702C>T (p.Gly234=)
|
|
|
|
NM_005263.5(GFI1):c.709G>T (p.Val237Phe)
|
rs906575632
|
|
|
NM_005263.5(GFI1):c.710T>C (p.Val237Ala)
|
|
|
|
NM_005263.5(GFI1):c.717G>C (p.Val239=)
|
rs2101570871
|
|
|
NM_005263.5(GFI1):c.723G>C (p.Ser241=)
|
|
|
|
NM_005263.5(GFI1):c.729G>A (p.Leu243=)
|
rs1658186951
|
|
|
NM_005263.5(GFI1):c.730C>T (p.Leu244=)
|
|
|
|
NM_005263.5(GFI1):c.731T>A (p.Leu244Gln)
|
|
|
|
NM_005263.5(GFI1):c.733T>G (p.Cys245Gly)
|
rs775151292
|
|
|
NM_005263.5(GFI1):c.749T>C (p.Leu250Pro)
|
|
|
|
NM_005263.5(GFI1):c.752G>C (p.Gly251Ala)
|
|
|
|
NM_005263.5(GFI1):c.755G>T (p.Gly252Val)
|
|
|
|
NM_005263.5(GFI1):c.765C>A (p.Tyr255Ter)
|
|
|
|
NM_005263.5(GFI1):c.776A>G (p.Lys259Arg)
|
|
|
|
NM_005263.5(GFI1):c.783C>G (p.Ser261Arg)
|
|
|
|
NM_005263.5(GFI1):c.786+12G>A
|
|
|
|
NM_005263.5(GFI1):c.787-5C>T
|
rs1156763305
|
|
|
NM_005263.5(GFI1):c.796A>G (p.Thr266Ala)
|
rs1658175649
|
|
|
NM_005263.5(GFI1):c.797C>T (p.Thr266Met)
|
rs1658175470
|
|
|
NM_005263.5(GFI1):c.79C>T (p.Leu27Phe)
|
rs1658376438
|
|
|
NM_005263.5(GFI1):c.800C>T (p.Pro267Leu)
|
|
|
|
NM_005263.5(GFI1):c.822G>A (p.Val274=)
|
|
|
|
NM_005263.5(GFI1):c.82C>G (p.Arg28Gly)
|
|
|
|
NM_005263.5(GFI1):c.835A>G (p.Ser279Gly)
|
rs1404247690
|
|
|
NM_005263.5(GFI1):c.837C>G (p.Ser279Arg)
|
rs1658171658
|
|
|
NM_005263.5(GFI1):c.854C>T (p.Ala285Val)
|
rs767464450
|
|
|
NM_005263.5(GFI1):c.863T>C (p.Met288Thr)
|
|
|
|
NM_005263.5(GFI1):c.869G>A (p.Gly290Asp)
|
|
|
|
NM_005263.5(GFI1):c.86T>A (p.Leu29Ter)
|
|
|
|
NM_005263.5(GFI1):c.923A>T (p.Gln308Leu)
|
rs1658165455
|
|
|
NM_005263.5(GFI1):c.924+10G>C
|
rs770009520
|
|
|
NM_005263.5(GFI1):c.924+13C>G
|
|
|
|
NM_005263.5(GFI1):c.924+6C>A
|
|
|
|
NM_005263.5(GFI1):c.924+6C>T
|
|
|
|
NM_005263.5(GFI1):c.924+8del
|
|
|
|
NM_005263.5(GFI1):c.924+9G>A
|
|
|
|
NM_005263.5(GFI1):c.924+9G>T
|
rs1180814416
|
|
|
NM_005263.5(GFI1):c.925-40CT[11]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[12]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[13]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[14]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[15]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[16]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[17]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[19]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[20]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[21]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[22]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[23]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[24]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[25]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[26]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[27]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[28]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[29]
|
|
|
|
NM_005263.5(GFI1):c.925-40CT[30]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[31]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[32]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[34]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-40CT[8]
|
rs35896485
|
|
|
NM_005263.5(GFI1):c.925-5_925-4insCTCTCTCTCC
|
rs1571213227
|
|
|
NM_005263.5(GFI1):c.925-7_925-6insTCTCTCTCTA
|
rs1553162639
|
|
|
NM_005263.5(GFI1):c.925-7_925-6insTCTCTT
|
rs766365921
|
|
|
NM_005263.5(GFI1):c.925-9_925-8insTCTCTCTA
|
rs1553162640
|
|
|
NM_005263.5(GFI1):c.928C>T (p.Arg310Trp)
|
|
|
|
NM_005263.5(GFI1):c.929G>A (p.Arg310Gln)
|
|
|
|
NM_005263.5(GFI1):c.942T>C (p.Cys314=)
|
|
|
|
NM_005263.5(GFI1):c.943A>G (p.Lys315Glu)
|
rs1432200639
|
|
|
NM_005263.5(GFI1):c.979C>T (p.Leu327=)
|
|
|
|
NM_005263.5(GFI1):c.99G>C (p.Pro33=)
|
|
|
|
NM_006019.4(TCIRG1):c.1970ACCGCC[3] (p.657HR[3])
|
rs1565163569
|
|
|
NM_006019.4(TCIRG1):c.2206C>A (p.Arg736Ser)
|
rs587779413
|
|
|
NM_006118.3(HAX1):c.-150A>T
|
rs544123058
|
|
|
NM_006118.4(HAX1):c.*1C>G
|
rs747961567
|
|
|
NM_006118.4(HAX1):c.*80C>T
|
rs912619566
|
|
|
NM_006118.4(HAX1):c.-53del
|
rs373592376
|
|
|
NM_006118.4(HAX1):c.103_106del (p.Glu35fs)
|
|
|
|
NM_006118.4(HAX1):c.105_107del (p.Glu40del)
|
rs752101273
|
|
|
NM_006118.4(HAX1):c.105_110dup (p.Glu39_Glu40dup)
|
rs755700193
|
|
|
NM_006118.4(HAX1):c.107AAG[4] (p.Glu40del)
|
rs753894148
|
|
|
NM_006118.4(HAX1):c.107AAG[6] (p.Glu40_Gly41insGlu)
|
|
|
|
NM_006118.4(HAX1):c.107AAG[7] (p.Glu40_Gly41insGluGlu)
|
|
|
|
NM_006118.4(HAX1):c.108A>G (p.Glu36=)
|
rs11556342
|
|
|
NM_006118.4(HAX1):c.109G>C (p.Glu37Gln)
|
|
|
|
NM_006118.4(HAX1):c.110A>C (p.Glu37Ala)
|
rs1220347048
|
|
|
NM_006118.4(HAX1):c.11_12del (p.Leu3_Phe4insTer)
|
|
|
|
NM_006118.4(HAX1):c.123G>C (p.Gly41=)
|
rs1057521590
|
|
|
NM_006118.4(HAX1):c.124G>T (p.Gly42Cys)
|
|
|
|
NM_006118.4(HAX1):c.125G>A (p.Gly42Asp)
|
rs1001600867
|
|
|
NM_006118.4(HAX1):c.125dup (p.Ser43fs)
|
rs745666437
|
|
|
NM_006118.4(HAX1):c.129A>C (p.Ser43=)
|
|
|
|
NM_006118.4(HAX1):c.129A>G (p.Ser43=)
|
|
|
|
NM_006118.4(HAX1):c.129A>T (p.Ser43=)
|
|
|
|
NM_006118.4(HAX1):c.130_131insA (p.Trp44Ter)
|
rs1572018284
|
|
|
NM_006118.4(HAX1):c.135_137del (p.Arg46del)
|
rs746771318
|
|
|
NM_006118.4(HAX1):c.137G>C (p.Arg46Pro)
|
rs761500862
|
|
|
NM_006118.4(HAX1):c.146del (p.Pro49fs)
|
rs2149139668
|
|
|
NM_006118.4(HAX1):c.147A>G (p.Pro49=)
|
|
|
|
NM_006118.4(HAX1):c.14A>C (p.Asp5Ala)
|
rs747374340
|
|
|
NM_006118.4(HAX1):c.154_155dup (p.Ser53fs)
|
|
|
|
NM_006118.4(HAX1):c.157A>G (p.Ser53Gly)
|
|
|
|
NM_006118.4(HAX1):c.159T>A (p.Ser53Arg)
|
|
|
|
NM_006118.4(HAX1):c.162T>C (p.Pro54=)
|
rs1684862702
|
|
|
NM_006118.4(HAX1):c.163C>T (p.Gln55Ter)
|
|
|
|
NM_006118.4(HAX1):c.166del (p.His56fs)
|
rs2149139706
|
|
|
NM_006118.4(HAX1):c.168C>T (p.His56=)
|
rs756371972
|
|
|
NM_006118.4(HAX1):c.16del (p.Leu6fs)
|
|
|
|
NM_006118.4(HAX1):c.171C>A (p.Pro57=)
|
|
|
|
NM_006118.4(HAX1):c.171C>G (p.Pro57=)
|
|
|
|
NM_006118.4(HAX1):c.171C>T (p.Pro57=)
|
|
|
|
NM_006118.4(HAX1):c.172C>T (p.Pro58Ser)
|
rs1260994720
|
|
|
NM_006118.4(HAX1):c.173del (p.Pro58fs)
|
|
|
|
NM_006118.4(HAX1):c.173dup (p.Pro58_Glu59insTer)
|
rs758657008
|
|
|
NM_006118.4(HAX1):c.174T>A (p.Pro58=)
|
rs757349543
|
|
|
NM_006118.4(HAX1):c.182T>C (p.Phe61Ser)
|
rs146452018
|
|
|
NM_006118.4(HAX1):c.182T>G (p.Phe61Cys)
|
rs146452018
|
|
|
NM_006118.4(HAX1):c.184GGCTTC[3] (p.Phe65_Ser66insGlyPhe)
|
|
|
|
NM_006118.4(HAX1):c.189C>T (p.Phe63=)
|
|
|
|
NM_006118.4(HAX1):c.18C>G (p.Leu6=)
|
rs375735851
|
|
|
NM_006118.4(HAX1):c.18C>T (p.Leu6=)
|
rs375735851
|
|
|
NM_006118.4(HAX1):c.191G>A (p.Gly64Asp)
|
rs1684865731
|
|
|
NM_006118.4(HAX1):c.207AGG[2] (p.Gly72del)
|
rs1558251515
|
|
|
NM_006118.4(HAX1):c.214_217dup (p.Ile73fs)
|
rs2149139793
|
|
|
NM_006118.4(HAX1):c.216G>C (p.Gly72=)
|
|
|
|
NM_006118.4(HAX1):c.216_217insC (p.Ile73fs)
|
|
|
|
NM_006118.4(HAX1):c.21C>T (p.Phe7=)
|
rs2149138533
|
|
|
NM_006118.4(HAX1):c.229G>A (p.Asp77Asn)
|
|
|
|
NM_006118.4(HAX1):c.231T>C (p.Asp77=)
|
|
|
|
NM_006118.4(HAX1):c.235_236del (p.Phe79fs)
|
rs2149139817
|
|
|
NM_006118.4(HAX1):c.246T>C (p.Asp82=)
|
rs2149139825
|
|
|
NM_006118.4(HAX1):c.24G>A (p.Arg8=)
|
|
|
|
NM_006118.4(HAX1):c.256C>G (p.Arg86Gly)
|
|
|
|
NM_006118.4(HAX1):c.257G>A (p.Arg86Gln)
|
|
|
|
NM_006118.4(HAX1):c.276C>T (p.Phe92=)
|
rs1394401898
|
|
|
NM_006118.4(HAX1):c.279C>T (p.Ser93=)
|
rs1684868690
|
|
|
NM_006118.4(HAX1):c.27C>T (p.Gly9=)
|
|
|
|
NM_006118.4(HAX1):c.288G>A (p.Gly96=)
|
rs750516773
|
|
|
NM_006118.4(HAX1):c.288G>C (p.Gly96=)
|
rs750516773
|
|
|
NM_006118.4(HAX1):c.289G>T (p.Ala97Ser)
|
rs1684869052
|
|
|
NM_006118.4(HAX1):c.30T>C (p.Phe10=)
|
rs2149138547
|
|
|
NM_006118.4(HAX1):c.314del (p.Pro105fs)
|
|
|
|
NM_006118.4(HAX1):c.314dup (p.Pro105_Glu106insTer)
|
|
|
|
NM_006118.4(HAX1):c.316+10T>G
|
rs2149139872
|
|
|
NM_006118.4(HAX1):c.316+12dup
|
rs1278748171
|
|
|
NM_006118.4(HAX1):c.316+17A>G
|
|
|
|
NM_006118.4(HAX1):c.316+17_316+28del
|
rs1484850337
|
|
|
NM_006118.4(HAX1):c.316+4T>G
|
|
|
|
NM_006118.4(HAX1):c.317-17C>G
|
|
|
|
NM_006118.4(HAX1):c.317-17C>T
|
|
|
|
NM_006118.4(HAX1):c.317-19A>C
|
|
|
|
NM_006118.4(HAX1):c.317-19A>G
|
|
|
|
NM_006118.4(HAX1):c.317-9T>A
|
rs1684873624
|
|
|
NM_006118.4(HAX1):c.317A>C (p.Glu106Ala)
|
|
|
|
NM_006118.4(HAX1):c.322C>T (p.Pro108Ser)
|
|
|
|
NM_006118.4(HAX1):c.32T>C (p.Phe11Ser)
|
|
|
|
NM_006118.4(HAX1):c.349G>T (p.Glu117Ter)
|
rs1487742962
|
|
|
NM_006118.4(HAX1):c.363G>A (p.Glu121=)
|
rs2149139958
|
|
|
NM_006118.4(HAX1):c.365G>A (p.Gly122Glu)
|
|
|
|
NM_006118.4(HAX1):c.368_381del (p.Gln123fs)
|
rs1425877227
|
|
|
NM_006118.4(HAX1):c.371C>A (p.Thr124Lys)
|
rs1684875501
|
|
|
NM_006118.4(HAX1):c.372_373insGATA (p.Leu125fs)
|
rs2149139969
|
|
|
NM_006118.4(HAX1):c.376_434del (p.Arg126fs)
|
|
|
|
NM_006118.4(HAX1):c.377G>A (p.Arg126Gln)
|
rs147036748
|
|
|
NM_006118.4(HAX1):c.379G>T (p.Asp127Tyr)
|
|
|
|
NM_006118.4(HAX1):c.381C>T (p.Asp127=)
|
|
|
|
NM_006118.4(HAX1):c.382T>G (p.Ser128Ala)
|
|
|
|
NM_006118.4(HAX1):c.383C>G (p.Ser128Ter)
|
rs1398108109
|
|
|
NM_006118.4(HAX1):c.385A>T (p.Met129Leu)
|
|
|
|
NM_006118.4(HAX1):c.396T>C (p.Tyr132=)
|
rs2149139988
|
|
|
NM_006118.4(HAX1):c.399A>G (p.Pro133=)
|
|
|
|
NM_006118.4(HAX1):c.413C>A (p.Pro138His)
|
|
|
|
NM_006118.4(HAX1):c.414C>T (p.Pro138=)
|
rs1572018842
|
|
|
NM_006118.4(HAX1):c.420C>A (p.Ile140=)
|
rs2149139999
|
|
|
NM_006118.4(HAX1):c.424G>A (p.Gly142Arg)
|
|
|
|
NM_006118.4(HAX1):c.425G>T (p.Gly142Val)
|
|
|
|
NM_006118.4(HAX1):c.426G>A (p.Gly142=)
|
rs751652704
|
|
|
NM_006118.4(HAX1):c.426G>C (p.Gly142=)
|
rs751652704
|
|
|
NM_006118.4(HAX1):c.427G>A (p.Gly143Arg)
|
rs1001874105
|
|
|
NM_006118.4(HAX1):c.42T>G (p.Pro14=)
|
|
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
|
NM_006118.4(HAX1):c.432del (p.Leu145fs)
|
|
|
|
NM_006118.4(HAX1):c.436G>A (p.Glu146Lys)
|
rs114883767
|
|
|
NM_006118.4(HAX1):c.43G>T (p.Gly15Ter)
|
|
|
|
NM_006118.4(HAX1):c.450A>C (p.Arg150Ser)
|
rs1684878785
|
|
|
NM_006118.4(HAX1):c.453T>C (p.Ser151=)
|
|
|
|
NM_006118.4(HAX1):c.456A>G (p.Glu152=)
|
rs2149140027
|
|
|
NM_006118.4(HAX1):c.459C>A (p.Ser153=)
|
|
|
|
NM_006118.4(HAX1):c.462C>A (p.Pro154=)
|
rs541692174
|
|
|
NM_006118.4(HAX1):c.462C>G (p.Pro154=)
|
rs541692174
|
|
|
NM_006118.4(HAX1):c.463dup (p.Gln155fs)
|
rs1572018886
|
|
|
NM_006118.4(HAX1):c.471A>G (p.Ala157=)
|
rs1572018909
|
|
|
NM_006118.4(HAX1):c.471A>T (p.Ala157=)
|
rs1572018909
|
|
|
NM_006118.4(HAX1):c.47C>T (p.Pro16Leu)
|
rs1310502848
|
|
|
NM_006118.4(HAX1):c.480G>A (p.Trp160Ter)
|
rs1392118289
|
|
|
NM_006118.4(HAX1):c.480G>C (p.Trp160Cys)
|
rs1392118289
|
|
|
NM_006118.4(HAX1):c.486C>T (p.Ser162=)
|
rs2149140052
|
|
|
NM_006118.4(HAX1):c.487C>T (p.Gln163Ter)
|
rs2149140056
|
|
|
NM_006118.4(HAX1):c.495A>G (p.Pro165=)
|
|
|
|
NM_006118.4(HAX1):c.501T>C (p.His167=)
|
rs2149140060
|
|
|
NM_006118.4(HAX1):c.504+10C>A
|
|
|
|
NM_006118.4(HAX1):c.504+10C>T
|
|
|
|
NM_006118.4(HAX1):c.504+12A>C
|
|
|
|
NM_006118.4(HAX1):c.504+12A>G
|
|
|
|
NM_006118.4(HAX1):c.504+12A>T
|
|
|
|
NM_006118.4(HAX1):c.504+19C>T
|
|
|
|
NM_006118.4(HAX1):c.504+1G>A
|
rs2149140065
|
|
|
NM_006118.4(HAX1):c.504+9C>G
|
rs2149140073
|
|
|
NM_006118.4(HAX1):c.505-13G>T
|
|
|
|
NM_006118.4(HAX1):c.505-1G>C
|
|
|
|
NM_006118.4(HAX1):c.507T>C (p.Phe169=)
|
|
|
|
NM_006118.4(HAX1):c.513T>C (p.Asp171=)
|
|
|
|
NM_006118.4(HAX1):c.516A>G (p.Val172=)
|
rs1684900369
|
|
|
NM_006118.4(HAX1):c.518G>A (p.Trp173Ter)
|
|
|
|
NM_006118.4(HAX1):c.521C>A (p.Pro174His)
|
rs1257711613
|
|
|
NM_006118.4(HAX1):c.521C>G (p.Pro174Arg)
|
rs1257711613
|
|
|
NM_006118.4(HAX1):c.528C>T (p.Asp176=)
|
|
|
|
NM_006118.4(HAX1):c.53+13C>T
|
rs759011018
|
|
|
NM_006118.4(HAX1):c.53+16G>A
|
|
|
|
NM_006118.4(HAX1):c.53+19C>T
|
|
|
|
NM_006118.4(HAX1):c.53+1G>A
|
|
|
|
NM_006118.4(HAX1):c.53+3GA[3]
|
|
|
|
NM_006118.4(HAX1):c.53+6_53+7insT
|
|
|
|
NM_006118.4(HAX1):c.53+7G>A
|
rs2149138580
|
|
|
NM_006118.4(HAX1):c.531C>A (p.Pro177=)
|
|
|
|
NM_006118.4(HAX1):c.54-12C>T
|
|
|
|
NM_006118.4(HAX1):c.54-14G>A
|
|
|
|
NM_006118.4(HAX1):c.54-15T>G
|
|
|
|
NM_006118.4(HAX1):c.54-20C>G
|
|
|
|
NM_006118.4(HAX1):c.54-2A>T
|
rs764765550
|
|
|
NM_006118.4(HAX1):c.54-4T>G
|
rs908920404
|
|
|
NM_006118.4(HAX1):c.54-5C>T
|
rs1357333154
|
|
|
NM_006118.4(HAX1):c.54-8A>G
|
rs2149139463
|
|
|
NM_006118.4(HAX1):c.54-9del
|
rs2149139460
|
|
|
NM_006118.4(HAX1):c.543C>A (p.Thr181=)
|
|
|
|
NM_006118.4(HAX1):c.552C>T (p.Asp184=)
|
rs2149140492
|
|
|
NM_006118.4(HAX1):c.556+11A>G
|
|
|
|
NM_006118.4(HAX1):c.556+15A>C
|
|
|
|
NM_006118.4(HAX1):c.556+15A>G
|
|
|
|
NM_006118.4(HAX1):c.556+17G>T
|
rs2149140505
|
|
|
NM_006118.4(HAX1):c.556+1G>A
|
|
|
|
NM_006118.4(HAX1):c.556+1G>C
|
rs1684901295
|
|
|
NM_006118.4(HAX1):c.556+1del
|
rs2149140495
|
|
|
NM_006118.4(HAX1):c.556+5G>A
|
|
|
|
NM_006118.4(HAX1):c.556+9G>A
|
|
|
|
NM_006118.4(HAX1):c.557-11T>C
|
|
|
|
NM_006118.4(HAX1):c.557-12C>G
|
rs1553289863
|
|
|
NM_006118.4(HAX1):c.557-16C>T
|
|
|
|
NM_006118.4(HAX1):c.557-18A>G
|
|
|
|
NM_006118.4(HAX1):c.557-1G>A
|
|
|
|
NM_006118.4(HAX1):c.557-1G>C
|
rs1684904805
|
|
|
NM_006118.4(HAX1):c.557-5T>C
|
|
|
|
NM_006118.4(HAX1):c.557-7C>T
|
|
|
|
NM_006118.4(HAX1):c.557-8T>C
|
rs1684904629
|
|
|
NM_006118.4(HAX1):c.557-9C>A
|
rs1684904587
|
|
|
NM_006118.4(HAX1):c.560T>C (p.Leu187Pro)
|
|
|
|
NM_006118.4(HAX1):c.565T>C (p.Ser189Pro)
|
|
|
|
NM_006118.4(HAX1):c.567C>T (p.Ser189=)
|
rs2149140587
|
|
|
NM_006118.4(HAX1):c.582G>A (p.Glu194=)
|
|
|
|
NM_006118.4(HAX1):c.583G>A (p.Gly195Ser)
|
|
|
|
NM_006118.4(HAX1):c.58dup (p.Arg20fs)
|
rs2149139493
|
|
|
NM_006118.4(HAX1):c.594G>T (p.Pro198=)
|
|
|
|
NM_006118.4(HAX1):c.599T>A (p.Leu200Gln)
|
rs2149140605
|
|
|
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
|
|
|
|
NM_006118.4(HAX1):c.605C>T (p.Pro202Leu)
|
|
|
|
NM_006118.4(HAX1):c.606C>G (p.Pro202=)
|
rs1684905836
|
|
|
NM_006118.4(HAX1):c.606C>T (p.Pro202=)
|
|
|
|
NM_006118.4(HAX1):c.607dup (p.Gln203fs)
|
|
|
|
NM_006118.4(HAX1):c.60_61delinsTC (p.Arg20_Asp21delinsSerHis)
|
rs2149139500
|
|
|
NM_006118.4(HAX1):c.612C>A (p.Pro204=)
|
|
|
|
NM_006118.4(HAX1):c.612C>G (p.Pro204=)
|
rs755648319
|
|
|
NM_006118.4(HAX1):c.614A>G (p.Lys205Arg)
|
|
|
|
NM_006118.4(HAX1):c.619T>G (p.Tyr207Asp)
|
rs1684906279
|
|
|
NM_006118.4(HAX1):c.622T>A (p.Phe208Ile)
|
|
|
|
NM_006118.4(HAX1):c.645G>A (p.Lys215=)
|
rs2149140634
|
|
|
NM_006118.4(HAX1):c.657A>T (p.Pro219=)
|
|
|
|
NM_006118.4(HAX1):c.658G>C (p.Asp220His)
|
|
|
|
NM_006118.4(HAX1):c.659A>T (p.Asp220Val)
|
rs1684907371
|
|
|
NM_006118.4(HAX1):c.663+14_663+17del
|
rs2149140652
|
|
|
NM_006118.4(HAX1):c.663+20dup
|
|
|
|
NM_006118.4(HAX1):c.663+5G>C
|
|
|
|
NM_006118.4(HAX1):c.664-13C>T
|
|
|
|
NM_006118.4(HAX1):c.664-1G>T
|
rs2149140690
|
|
|
NM_006118.4(HAX1):c.664-4G>A
|
|
|
|
NM_006118.4(HAX1):c.664-5T>G
|
|
|
|
NM_006118.4(HAX1):c.664-6T>C
|
rs2149140688
|
|
|
NM_006118.4(HAX1):c.664-8C>G
|
|
|
|
NM_006118.4(HAX1):c.664-8C>T
|
|
|
|
NM_006118.4(HAX1):c.665T>C (p.Ile222Thr)
|
rs753448581
|
|
|
NM_006118.4(HAX1):c.666A>T (p.Ile222=)
|
rs2149140695
|
|
|
NM_006118.4(HAX1):c.677G>A (p.Arg226His)
|
rs750920845
|
|
|
NM_006118.4(HAX1):c.678C>T (p.Arg226=)
|
rs1684911540
|
|
|
NM_006118.4(HAX1):c.679C>A (p.Arg227=)
|
|
|
|
NM_006118.4(HAX1):c.684T>C (p.Thr228=)
|
|
|
|
NM_006118.4(HAX1):c.684T>G (p.Thr228=)
|
rs2149140709
|
|
|
NM_006118.4(HAX1):c.690G>A (p.Val230=)
|
|
|
|
NM_006118.4(HAX1):c.699G>A (p.Glu233=)
|
rs1398388092
|
|
|
NM_006118.4(HAX1):c.702C>A (p.Gly234=)
|
|
|
|
NM_006118.4(HAX1):c.702C>T (p.Gly234=)
|
rs2149140719
|
|
|
NM_006118.4(HAX1):c.703C>T (p.Arg235Trp)
|
|
|
|
NM_006118.4(HAX1):c.705G>A (p.Arg235=)
|
|
|
|
NM_006118.4(HAX1):c.713C>T (p.Thr238Ile)
|
rs377331781
|
|
|
NM_006118.4(HAX1):c.717A>G (p.Thr239=)
|
rs911542597
|
|
|
NM_006118.4(HAX1):c.741C>T (p.Ser247=)
|
|
|
|
NM_006118.4(HAX1):c.744T>C (p.Ser248=)
|
|
|
|
NM_006118.4(HAX1):c.752G>T (p.Gly251Val)
|
|
|
|
NM_006118.4(HAX1):c.754+12G>A
|
rs2149140759
|
|
|
NM_006118.4(HAX1):c.754+16A>G
|
rs370265383
|
|
|
NM_006118.4(HAX1):c.754+16_754+17del
|
|
|
|
NM_006118.4(HAX1):c.754+17A>G
|
rs2149140768
|
|
|
NM_006118.4(HAX1):c.754+18G>T
|
|
|
|
NM_006118.4(HAX1):c.754+19G>C
|
|
|
|
NM_006118.4(HAX1):c.754+8A>C
|
rs766977977
|
|
|
NM_006118.4(HAX1):c.755-12T>A
|
rs2149140818
|
|
|
NM_006118.4(HAX1):c.755-13C>T
|
|
|
|
NM_006118.4(HAX1):c.755-17A>G
|
|
|
|
NM_006118.4(HAX1):c.755-19G>A
|
rs367977880
|
|
|
NM_006118.4(HAX1):c.755-19G>T
|
|
|
|
NM_006118.4(HAX1):c.755-5C>G
|
|
|
|
NM_006118.4(HAX1):c.755-5C>T
|
rs2149140820
|
|
|
NM_006118.4(HAX1):c.768A>C (p.Pro256=)
|
rs761421364
|
|
|
NM_006118.4(HAX1):c.768A>G (p.Pro256=)
|
rs761421364
|
|
|
NM_006118.4(HAX1):c.779C>T (p.Ala260Val)
|
|
|
|
NM_006118.4(HAX1):c.780C>A (p.Ala260=)
|
rs2149140833
|
|
|
NM_006118.4(HAX1):c.781C>G (p.Leu261Val)
|
rs2149140834
|
|
|
NM_006118.4(HAX1):c.786T>C (p.Asp262=)
|
|
|
|
NM_006118.4(HAX1):c.78G>A (p.Gly26=)
|
|
|
|
NM_006118.4(HAX1):c.797C>T (p.Ser266Phe)
|
rs1684917433
|
|
|
NM_006118.4(HAX1):c.798C>A (p.Ser266=)
|
|
|
|
NM_006118.4(HAX1):c.800del (p.Ile267fs)
|
|
|
|
NM_006118.4(HAX1):c.802C>T (p.Leu268=)
|
rs2149140852
|
|
|
NM_006118.4(HAX1):c.814C>T (p.Leu272=)
|
|
|
|
NM_006118.4(HAX1):c.819A>G (p.Gly273=)
|
|
|
|
NM_006118.4(HAX1):c.81_83delinsT (p.Met27fs)
|
|
|
|
NM_006118.4(HAX1):c.820C>T (p.Arg274Cys)
|
rs753078666
|
|
|
NM_006118.4(HAX1):c.822T>G (p.Arg274=)
|
|
|
|
NM_006118.4(HAX1):c.831G>A (p.Arg277=)
|
|
|
|
NM_006118.4(HAX1):c.84T>C (p.Thr28=)
|
|
|
|
NM_006118.4(HAX1):c.85C>T (p.Arg29Ter)
|
|
|
|
NM_006118.4(HAX1):c.93_95del (p.Glu31del)
|
rs773579418
|
|
|
NM_006118.4(HAX1):c.96T>C (p.Asp32=)
|
rs2149139550
|
|
|
NM_006118.4(HAX1):c.96TGA[2] (p.Asp34del)
|
rs560912060
|
|
|
NM_006118.4(HAX1):c.99T>C (p.Asp33=)
|
|
|
|
NM_006118.4(HAX1):c.9C>G (p.Leu3=)
|
rs2149138508
|
|
|
NM_006118.4(HAX1):c.9C>T (p.Leu3=)
|
rs2149138508
|
|
|
NM_006537.4(USP3):c.941T>G (p.Phe314Cys)
|
rs2066822697
|
|
|
NM_007259.5(VPS45):c.1005T>A (p.Val335=)
|
|
|
|
NM_007259.5(VPS45):c.1005T>C (p.Val335=)
|
rs2101538747
|
|
|
NM_007259.5(VPS45):c.1011A>G (p.Glu337=)
|
rs781878634
|
|
|
NM_007259.5(VPS45):c.1021T>C (p.Leu341=)
|
|
|
|
NM_007259.5(VPS45):c.1041G>A (p.Leu347=)
|
rs2101538873
|
|
|
NM_007259.5(VPS45):c.1042C>T (p.Leu348=)
|
rs2101538885
|
|
|
NM_007259.5(VPS45):c.1069C>A (p.Leu357Met)
|
|
|
|
NM_007259.5(VPS45):c.1072G>A (p.Ala358Thr)
|
|
|
|
NM_007259.5(VPS45):c.1074C>T (p.Ala358=)
|
|
|
|
NM_007259.5(VPS45):c.1085A>T (p.Asp362Val)
|
|
|
|
NM_007259.5(VPS45):c.1092T>C (p.Ser364=)
|
|
|
|
NM_007259.5(VPS45):c.1098T>C (p.Ala366=)
|
|
|
|
NM_007259.5(VPS45):c.1104+14G>A
|
|
|
|
NM_007259.5(VPS45):c.1104+17G>A
|
|
|
|
NM_007259.5(VPS45):c.1104+19G>A
|
|
|
|
NM_007259.5(VPS45):c.1104+7C>T
|
rs1571834548
|
|
|
NM_007259.5(VPS45):c.1104+8C>T
|
|
|
|
NM_007259.5(VPS45):c.1105-10C>T
|
rs2101565432
|
|
|
NM_007259.5(VPS45):c.1105-11T>C
|
|
|
|
NM_007259.5(VPS45):c.1105-12A>C
|
|
|
|
NM_007259.5(VPS45):c.1105-12_1105-9del
|
|
|
|
NM_007259.5(VPS45):c.1105-14C>G
|
|
|
|
NM_007259.5(VPS45):c.1105-15del
|
|
|
|
NM_007259.5(VPS45):c.1105-5T>C
|
rs2101565451
|
|
|
NM_007259.5(VPS45):c.1116G>A (p.Arg372=)
|
rs1302292445
|
|
|
NM_007259.5(VPS45):c.1122G>T (p.Leu374=)
|
|
|
|
NM_007259.5(VPS45):c.1129C>A (p.Pro377Thr)
|
|
|
|
NM_007259.5(VPS45):c.1134A>G (p.Lys378=)
|
|
|
|
NM_007259.5(VPS45):c.1152T>A (p.Ala384=)
|
|
|
|
NM_007259.5(VPS45):c.1152T>C (p.Ala384=)
|
|
|
|
NM_007259.5(VPS45):c.1154C>T (p.Ala385Val)
|
|
|
|
NM_007259.5(VPS45):c.1155C>T (p.Ala385=)
|
rs1553801991
|
|
|
NM_007259.5(VPS45):c.1158C>G (p.Arg386=)
|
rs1571849016
|
|
|
NM_007259.5(VPS45):c.115T>A (p.Tyr39Asn)
|
rs188130682
|
|
|
NM_007259.5(VPS45):c.116A>G (p.Tyr39Cys)
|
|
|
|
NM_007259.5(VPS45):c.1170T>C (p.Leu390=)
|
rs2101565709
|
|
|
NM_007259.5(VPS45):c.1173T>C (p.Tyr391=)
|
|
|
|
NM_007259.5(VPS45):c.1181A>G (p.His394Arg)
|
rs1486347658
|
|
|
NM_007259.5(VPS45):c.1186G>A (p.Glu396Lys)
|
rs1656350811
|
|
|
NM_007259.5(VPS45):c.1186G>C (p.Glu396Gln)
|
rs1656350811
|
|
|
NM_007259.5(VPS45):c.1194C>T (p.His398=)
|
|
|
|
NM_007259.5(VPS45):c.1200C>T (p.Ser400=)
|
|
|
|
NM_007259.5(VPS45):c.1203T>C (p.Asn401=)
|
|
|
|
NM_007259.5(VPS45):c.1208T>C (p.Leu403Pro)
|
|
|
|
NM_007259.5(VPS45):c.1212A>G (p.Pro404=)
|
rs2101565926
|
|
|
NM_007259.5(VPS45):c.1218A>T (p.Leu406=)
|
|
|
|
NM_007259.5(VPS45):c.1226_1227insATTCCTGAGGAACA (p.Asp409fs)
|
|
|
|
NM_007259.5(VPS45):c.1233G>A (p.Arg411=)
|
rs2101565990
|
|
|
NM_007259.5(VPS45):c.123A>G (p.Gln41=)
|
rs1654857826
|
|
|
NM_007259.5(VPS45):c.1242T>A (p.Gly414=)
|
|
|
|
NM_007259.5(VPS45):c.1242T>G (p.Gly414=)
|
|
|
|
NM_007259.5(VPS45):c.1263+10T>C
|
|
|
|
NM_007259.5(VPS45):c.1263+11T>A
|
|
|
|
NM_007259.5(VPS45):c.1263+11dup
|
|
|
|
NM_007259.5(VPS45):c.1263+13C>T
|
|
|
|
NM_007259.5(VPS45):c.1263+14A>T
|
|
|
|
NM_007259.5(VPS45):c.1263+16A>G
|
|
|
|
NM_007259.5(VPS45):c.1263+17T>A
|
|
|
|
NM_007259.5(VPS45):c.1263+7A>G
|
|
|
|
NM_007259.5(VPS45):c.1264-13del
|
|
|
|
NM_007259.5(VPS45):c.1264-14C>T
|
|
|
|
NM_007259.5(VPS45):c.1264-9_1264-6del
|
|
|
|
NM_007259.5(VPS45):c.1266C>G (p.Leu422=)
|
|
|
|
NM_007259.5(VPS45):c.1266C>T (p.Leu422=)
|
rs782520287
|
|
|
NM_007259.5(VPS45):c.1267G>A (p.Val423Met)
|
rs201002467
|
|
|
NM_007259.5(VPS45):c.1269G>A (p.Val423=)
|
|
|
|
NM_007259.5(VPS45):c.1294A>C (p.Lys432Gln)
|
rs1571849671
|
|
|
NM_007259.5(VPS45):c.1298G>A (p.Arg433Gln)
|
|
|
|
NM_007259.5(VPS45):c.1299A>C (p.Arg433=)
|
rs2101566674
|
|
|
NM_007259.5(VPS45):c.130A>G (p.Ile44Val)
|
|
|
|
NM_007259.5(VPS45):c.1339G>T (p.Ala447Ser)
|
|
|
|
NM_007259.5(VPS45):c.133C>T (p.Leu45=)
|
rs2101476530
|
|
|
NM_007259.5(VPS45):c.1341T>A (p.Ala447=)
|
rs2101566942
|
|
|
NM_007259.5(VPS45):c.1347C>A (p.Thr449=)
|
rs2101566957
|
|
|
NM_007259.5(VPS45):c.1347C>T (p.Thr449=)
|
|
|
|
NM_007259.5(VPS45):c.1353A>G (p.Gln451=)
|
|
|
|
NM_007259.5(VPS45):c.135A>G (p.Leu45=)
|
rs782284311
|
|
|
NM_007259.5(VPS45):c.1368G>A (p.Leu456=)
|
|
|
|
NM_007259.5(VPS45):c.1371+10TC[3]
|
rs2101567083
|
|
|
NM_007259.5(VPS45):c.1371+11C>G
|
|
|
|
NM_007259.5(VPS45):c.1371+13C>G
|
|
|
|
NM_007259.5(VPS45):c.1371+14C>T
|
|
|
|
NM_007259.5(VPS45):c.1371+14_1371+16del
|
|
|
|
NM_007259.5(VPS45):c.1371+15T>C
|
|
|
|
NM_007259.5(VPS45):c.1371+16C>G
|
|
|
|
NM_007259.5(VPS45):c.1371+16C>T
|
|
|
|
NM_007259.5(VPS45):c.1371+18A>G
|
|
|
|
NM_007259.5(VPS45):c.1371+9A>G
|
rs368568806
|
|
|
NM_007259.5(VPS45):c.1371+9A>T
|
rs368568806
|
|
|
NM_007259.5(VPS45):c.1372-10C>T
|
|
|
|
NM_007259.5(VPS45):c.1372-20A>G
|
|
|
|
NM_007259.5(VPS45):c.1372-3del
|
|
|
|
NM_007259.5(VPS45):c.1372-4T>C
|
|
|
|
NM_007259.5(VPS45):c.1372-6T>C
|
|
|
|
NM_007259.5(VPS45):c.1372-7G>C
|
rs2101570024
|
|
|
NM_007259.5(VPS45):c.1372-8del
|
|
|
|
NM_007259.5(VPS45):c.1372-9C>G
|
|
|
|
NM_007259.5(VPS45):c.1374A>G (p.Gly458=)
|
|
|
|
NM_007259.5(VPS45):c.1386A>G (p.Val462=)
|
rs959109809
|
|
|
NM_007259.5(VPS45):c.1389T>C (p.Tyr463=)
|
|
|
|
NM_007259.5(VPS45):c.1392A>T (p.Thr464=)
|
|
|
|
NM_007259.5(VPS45):c.1410A>G (p.Leu470=)
|
rs2101570132
|
|
|
NM_007259.5(VPS45):c.1412A>G (p.His471Arg)
|
rs782441436
|
|
|
NM_007259.5(VPS45):c.1414G>A (p.Glu472Lys)
|
rs1656459616
|
|
|
NM_007259.5(VPS45):c.1418C>A (p.Thr473Asn)
|
rs1553802469
|
|
|
NM_007259.5(VPS45):c.1419C>G (p.Thr473=)
|
|
|
|
NM_007259.5(VPS45):c.1419C>T (p.Thr473=)
|
|
|
|
NM_007259.5(VPS45):c.1443G>A (p.Arg481=)
|
|
|
|
NM_007259.5(VPS45):c.1455C>T (p.Asn485=)
|
rs1656463069
|
|
|
NM_007259.5(VPS45):c.1458A>C (p.Leu486=)
|
|
|
|
NM_007259.5(VPS45):c.1461del (p.Pro488fs)
|
|
|
|
NM_007259.5(VPS45):c.1463C>G (p.Pro488Arg)
|
rs1553802482
|
|
|
NM_007259.5(VPS45):c.1476C>A (p.Pro492=)
|
|
|
|
NM_007259.5(VPS45):c.1476C>G (p.Pro492=)
|
rs1253982752
|
|
|
NM_007259.5(VPS45):c.1479C>T (p.Ser493=)
|
rs2101570323
|
|
|
NM_007259.5(VPS45):c.1481C>T (p.Thr494Ile)
|
rs1656465946
|
|
|
NM_007259.5(VPS45):c.1482A>G (p.Thr494=)
|
rs782409875
|
|
|
NM_007259.5(VPS45):c.1491C>T (p.Asp497=)
|
rs782007834
|
|
|
NM_007259.5(VPS45):c.1493+12A>G
|
rs587746538
|
|
|
NM_007259.5(VPS45):c.1493+14G>T
|
|
|
|
NM_007259.5(VPS45):c.1493+18T>C
|
|
|
|
NM_007259.5(VPS45):c.1494-14C>A
|
|
|
|
NM_007259.5(VPS45):c.1494-14C>T
|
|
|
|
NM_007259.5(VPS45):c.1494-15del
|
|
|
|
NM_007259.5(VPS45):c.1494-17A>T
|
|
|
|
NM_007259.5(VPS45):c.1494-5T>C
|
rs781920624
|
|
|
NM_007259.5(VPS45):c.1494-6T>C
|
|
|
|
NM_007259.5(VPS45):c.1500G>A (p.Gln500=)
|
|
|
|
NM_007259.5(VPS45):c.1509T>A (p.Ile503=)
|
rs2101608863
|
|
|
NM_007259.5(VPS45):c.1512G>A (p.Val504=)
|
|
|
|
NM_007259.5(VPS45):c.1515T>C (p.Phe505=)
|
|
|
|
NM_007259.5(VPS45):c.1518A>G (p.Val506=)
|
|
|
|
NM_007259.5(VPS45):c.1518A>T (p.Val506=)
|
|
|
|
NM_007259.5(VPS45):c.1530C>T (p.Ala510=)
|
|
|
|
NM_007259.5(VPS45):c.1533C>T (p.Thr511=)
|
|
|
|
NM_007259.5(VPS45):c.1538A>G (p.Glu513Gly)
|
rs1571879434
|
|
|
NM_007259.5(VPS45):c.1543G>A (p.Ala515Thr)
|
rs2101608934
|
|
|
NM_007259.5(VPS45):c.1551A>C (p.Thr517=)
|
|
|
|
NM_007259.5(VPS45):c.1560C>T (p.Asn520=)
|
rs2101608985
|
|
|
NM_007259.5(VPS45):c.1568G>T (p.Arg523Leu)
|
rs1191051819
|
|
|
NM_007259.5(VPS45):c.1572C>T (p.Thr524=)
|
rs782816408
|
|
|
NM_007259.5(VPS45):c.1577C>G (p.Pro526Arg)
|
rs2101609044
|
|
|
NM_007259.5(VPS45):c.1584G>A (p.Val528=)
|
rs2101609056
|
|
|
NM_007259.5(VPS45):c.1594C>T (p.Leu532=)
|
|
|
|
NM_007259.5(VPS45):c.1596G>A (p.Leu532=)
|
|
|
|
NM_007259.5(VPS45):c.159A>G (p.Glu53=)
|
|
|
|
NM_007259.5(VPS45):c.1601_1602delinsTT (p.Gly534Val)
|
|
|
|
NM_007259.5(VPS45):c.1605C>A (p.Thr535=)
|
rs782478918
|
|
|
NM_007259.5(VPS45):c.160C>T (p.Arg54Cys)
|
|
|
|
NM_007259.5(VPS45):c.1614C>T (p.His538=)
|
|
|
|
NM_007259.5(VPS45):c.1623A>G (p.Lys541=)
|
rs1553807022
|
|
|
NM_007259.5(VPS45):c.1625+15T>G
|
|
|
|
NM_007259.5(VPS45):c.1626-17C>T
|
|
|
|
NM_007259.5(VPS45):c.1626-18C>T
|
|
|
|
NM_007259.5(VPS45):c.1626-4T>C
|
|
|
|
NM_007259.5(VPS45):c.1626-4T>G
|
rs1327671540
|
|
|
NM_007259.5(VPS45):c.1626-5A>T
|
rs2101672275
|
|
|
NM_007259.5(VPS45):c.1626-8C>T
|
|
|
|
NM_007259.5(VPS45):c.1626-8del
|
rs1571931824
|
|
|
NM_007259.5(VPS45):c.1641T>C (p.Val547=)
|
rs1355098112
|
|
|
NM_007259.5(VPS45):c.1653A>G (p.Gly551=)
|
rs1553816156
|
|
|
NM_007259.5(VPS45):c.1653A>T (p.Gly551=)
|
|
|
|
NM_007259.5(VPS45):c.1656G>T (p.Leu552=)
|
rs1571931928
|
|
|
NM_007259.5(VPS45):c.1659C>T (p.His553=)
|
|
|
|
NM_007259.5(VPS45):c.1664G>C (p.Arg555Pro)
|
rs142968690
|
|
|
NM_007259.5(VPS45):c.1672G>C (p.Glu558Gln)
|
|
|
|
NM_007259.5(VPS45):c.1678T>C (p.Ser560Pro)
|
|
|
|
NM_007259.5(VPS45):c.167A>G (p.Asp56Gly)
|
rs1278390607
|
|
|
NM_007259.5(VPS45):c.1689A>T (p.Thr563=)
|
rs782289649
|
|
|
NM_007259.5(VPS45):c.168T>C (p.Asp56=)
|
|
|
|
NM_007259.5(VPS45):c.1693A>G (p.Arg565Gly)
|
|
|
|
NM_007259.5(VPS45):c.1701G>C (p.Ala567=)
|
|
|
|
NM_007259.5(VPS45):c.1701G>T (p.Ala567=)
|
rs377365764
|
|
|
NM_007259.5(VPS45):c.170C>A (p.Ser57Tyr)
|
rs782358688
|
|
|
NM_007259.5(VPS45):c.1711_1712insA (p.Ter571=)
|
|
|
|
NM_007259.5(VPS45):c.1712G>A (p.Ter571=)
|
rs782075318
|
|
|
NM_007259.5(VPS45):c.173A>G (p.Gln58Arg)
|
rs1654862605
|
|
|
NM_007259.5(VPS45):c.178C>A (p.Arg60=)
|
|
|
|
NM_007259.5(VPS45):c.182A>C (p.Glu61Ala)
|
|
|
|
NM_007259.5(VPS45):c.186C>A (p.Ile62=)
|
rs1553796358
|
|
|
NM_007259.5(VPS45):c.187A>G (p.Met63Val)
|
rs1553796360
|
|
|
NM_007259.5(VPS45):c.189G>T (p.Met63Ile)
|
|
|
|
NM_007259.5(VPS45):c.194A>G (p.His65Arg)
|
|
|
|
NM_007259.5(VPS45):c.204A>G (p.Ala68=)
|
rs1553796373
|
|
|
NM_007259.5(VPS45):c.219A>C (p.Arg73=)
|
|
|
|
NM_007259.5(VPS45):c.220C>T (p.Pro74Ser)
|
rs1374559604
|
|
|
NM_007259.5(VPS45):c.228+12dup
|
|
|
|
NM_007259.5(VPS45):c.228+17G>A
|
|
|
|
NM_007259.5(VPS45):c.228+19_228+22dup
|
|
|
|
NM_007259.5(VPS45):c.228+7C>A
|
|
|
|
NM_007259.5(VPS45):c.228+7C>T
|
rs782018422
|
|
|
NM_007259.5(VPS45):c.228+9T>C
|
rs1654867997
|
|
|
NM_007259.5(VPS45):c.229-10C>A
|
rs781990380
|
|
|
NM_007259.5(VPS45):c.229-5dup
|
rs781925027
|
|
|
NM_007259.5(VPS45):c.229-6T>C
|
rs2101495459
|
|
|
NM_007259.5(VPS45):c.239A>T (p.Asp80Val)
|
|
|
|
NM_007259.5(VPS45):c.246T>A (p.Ile82=)
|
|
|
|
NM_007259.5(VPS45):c.246T>C (p.Ile82=)
|
rs62622370
|
|
|
NM_007259.5(VPS45):c.258C>G (p.Leu86=)
|
|
|
|
NM_007259.5(VPS45):c.259C>A (p.Arg87=)
|
rs782463106
|
|
|
NM_007259.5(VPS45):c.269A>G (p.Lys90Arg)
|
rs781906938
|
|
|
NM_007259.5(VPS45):c.270A>G (p.Lys90=)
|
|
|
|
NM_007259.5(VPS45):c.276T>C (p.Thr92=)
|
rs2101495807
|
|
|
NM_007259.5(VPS45):c.27G>A (p.Gln9=)
|
rs1654813865
|
|
|
NM_007259.5(VPS45):c.285C>T (p.Phe95=)
|
rs140400945
|
|
|
NM_007259.5(VPS45):c.289+15T>G
|
|
|
|
NM_007259.5(VPS45):c.289+16C>T
|
|
|
|
NM_007259.5(VPS45):c.289+19T>C
|
|
|
|
NM_007259.5(VPS45):c.290-12C>G
|
|
|
|
NM_007259.5(VPS45):c.290-12C>T
|
|
|
|
NM_007259.5(VPS45):c.290-18C>G
|
|
|
|
NM_007259.5(VPS45):c.290-18C>T
|
|
|
|
NM_007259.5(VPS45):c.290-19C>T
|
|
|
|
NM_007259.5(VPS45):c.290-20C>A
|
|
|
|
NM_007259.5(VPS45):c.294C>T (p.Phe98=)
|
|
|
|
NM_007259.5(VPS45):c.297T>C (p.Ser99=)
|
|
|
|
NM_007259.5(VPS45):c.300T>C (p.Asn100=)
|
|
|
|
NM_007259.5(VPS45):c.301G>A (p.Val101Met)
|
|
|
|
NM_007259.5(VPS45):c.303G>T (p.Val101=)
|
|
|
|
NM_007259.5(VPS45):c.304A>G (p.Ile102Val)
|
|
|
|
NM_007259.5(VPS45):c.312G>C (p.Lys104Asn)
|
rs947757508
|
|
|
NM_007259.5(VPS45):c.319G>C (p.Val107Leu)
|
rs782553177
|
|
|
NM_007259.5(VPS45):c.320T>A (p.Val107Glu)
|
|
|
|
NM_007259.5(VPS45):c.321G>A (p.Val107=)
|
|
|
|
NM_007259.5(VPS45):c.324G>A (p.Lys108=)
|
rs2101515532
|
|
|
NM_007259.5(VPS45):c.327A>G (p.Ser109=)
|
|
|
|
NM_007259.5(VPS45):c.328T>C (p.Leu110=)
|
rs2101515546
|
|
|
NM_007259.5(VPS45):c.336A>G (p.Glu112=)
|
rs1571822136
|
|
|
NM_007259.5(VPS45):c.33T>C (p.Ile11=)
|
|
|
|
NM_007259.5(VPS45):c.348G>A (p.Gln116=)
|
|
|
|
NM_007259.5(VPS45):c.352G>A (p.Val118Ile)
|
rs2101515689
|
|
|
NM_007259.5(VPS45):c.357G>A (p.Val119=)
|
rs2101515731
|
|
|
NM_007259.5(VPS45):c.363G>A (p.Glu121=)
|
|
|
|
NM_007259.5(VPS45):c.369+10T>C
|
|
|
|
NM_007259.5(VPS45):c.369+20A>G
|
|
|
|
NM_007259.5(VPS45):c.369+7A>G
|
rs2101515804
|
|
|
NM_007259.5(VPS45):c.369+9A>G
|
|
|
|
NM_007259.5(VPS45):c.369+9_369+10del
|
rs2101515817
|
|
|
NM_007259.5(VPS45):c.370-15G>A
|
|
|
|
NM_007259.5(VPS45):c.370-16G>A
|
|
|
|
NM_007259.5(VPS45):c.370-18T>C
|
|
|
|
NM_007259.5(VPS45):c.370-9T>C
|
rs2101518189
|
|
|
NM_007259.5(VPS45):c.372A>G (p.Glu124=)
|
rs2101518267
|
|
|
NM_007259.5(VPS45):c.399C>T (p.Asn133=)
|
rs2101518426
|
|
|
NM_007259.5(VPS45):c.402A>G (p.Pro134=)
|
|
|
|
NM_007259.5(VPS45):c.404A>G (p.His135Arg)
|
rs781981353
|
|
|
NM_007259.5(VPS45):c.405T>C (p.His135=)
|
|
|
|
NM_007259.5(VPS45):c.406T>C (p.Leu136=)
|
rs2101518468
|
|
|
NM_007259.5(VPS45):c.414C>T (p.Ser138=)
|
|
|
|
NM_007259.5(VPS45):c.419A>G (p.Asn140Ser)
|
rs782339252
|
|
|
NM_007259.5(VPS45):c.426G>C (p.Leu142Phe)
|
|
|
|
NM_007259.5(VPS45):c.429T>A (p.Gly143=)
|
|
|
|
NM_007259.5(VPS45):c.429T>C (p.Gly143=)
|
|
|
|
NM_007259.5(VPS45):c.435C>T (p.Cys145=)
|
rs2101518656
|
|
|
NM_007259.5(VPS45):c.438+13A>G
|
|
|
|
NM_007259.5(VPS45):c.438+14G>A
|
|
|
|
NM_007259.5(VPS45):c.438+18T>C
|
|
|
|
NM_007259.5(VPS45):c.438+7A>G
|
rs2101518689
|
|
|
NM_007259.5(VPS45):c.438+9G>A
|
|
|
|
NM_007259.5(VPS45):c.439-10dup
|
|
|
|
NM_007259.5(VPS45):c.439-2del
|
rs782005099
|
|
|
NM_007259.5(VPS45):c.439-6A>G
|
rs1272899698
|
|
|
NM_007259.5(VPS45):c.439-6A>T
|
rs1272899698
|
|
|
NM_007259.5(VPS45):c.439-7C>T
|
|
|
|
NM_007259.5(VPS45):c.442C>T (p.Arg148Ter)
|
rs1655433446
|
|
|
NM_007259.5(VPS45):c.447T>C (p.Asn149=)
|
rs1553798264
|
|
|
NM_007259.5(VPS45):c.456A>G (p.Pro152=)
|
rs2101519305
|
|
|
NM_007259.5(VPS45):c.461A>T (p.Gln154Leu)
|
rs998654797
|
|
|
NM_007259.5(VPS45):c.465A>G (p.Leu155=)
|
rs2101519368
|
|
|
NM_007259.5(VPS45):c.468T>C (p.Ser156=)
|
|
|
|
NM_007259.5(VPS45):c.468T>G (p.Ser156=)
|
rs2101519395
|
|
|
NM_007259.5(VPS45):c.474A>T (p.Thr158=)
|
rs2101519449
|
|
|
NM_007259.5(VPS45):c.489A>G (p.Thr163=)
|
|
|
|
NM_007259.5(VPS45):c.490G>A (p.Ala164Thr)
|
|
|
|
NM_007259.5(VPS45):c.513G>A (p.Lys171=)
|
|
|
|
NM_007259.5(VPS45):c.516T>C (p.Cys172=)
|
|
|
|
NM_007259.5(VPS45):c.525T>A (p.Ile175=)
|
|
|
|
NM_007259.5(VPS45):c.527G>C (p.Arg176Pro)
|
rs142225617
|
|
|
NM_007259.5(VPS45):c.528T>C (p.Arg176=)
|
|
|
|
NM_007259.5(VPS45):c.531T>C (p.Tyr177=)
|
|
|
|
NM_007259.5(VPS45):c.537C>G (p.Leu179=)
|
|
|
|
NM_007259.5(VPS45):c.537C>T (p.Leu179=)
|
rs782397315
|
|
|
NM_007259.5(VPS45):c.540A>T (p.Ser180=)
|
|
|
|
NM_007259.5(VPS45):c.543A>G (p.Ser181=)
|
rs2101519854
|
|
|
NM_007259.5(VPS45):c.563C>G (p.Ala188Gly)
|
|
|
|
NM_007259.5(VPS45):c.564A>T (p.Ala188=)
|
|
|
|
NM_007259.5(VPS45):c.573T>A (p.Val191=)
|
|
|
|
NM_007259.5(VPS45):c.576+12C>T
|
|
|
|
NM_007259.5(VPS45):c.576+15A>G
|
|
|
|
NM_007259.5(VPS45):c.576+18C>T
|
|
|
|
NM_007259.5(VPS45):c.576+20T>C
|
|
|
|
NM_007259.5(VPS45):c.576+4T>C
|
rs1553798326
|
|
|
NM_007259.5(VPS45):c.576+7C>T
|
|
|
|
NM_007259.5(VPS45):c.576+8A>G
|
rs2101520081
|
|
|
NM_007259.5(VPS45):c.577-13C>G
|
|
|
|
NM_007259.5(VPS45):c.577-4A>G
|
rs782591820
|
|
|
NM_007259.5(VPS45):c.577-6C>A
|
|
|
|
NM_007259.5(VPS45):c.577-9C>T
|
rs2101521609
|
|
|
NM_007259.5(VPS45):c.57G>A (p.Gly19=)
|
|
|
|
NM_007259.5(VPS45):c.582G>A (p.Val194=)
|
|
|
|
NM_007259.5(VPS45):c.58C>T (p.Pro20Ser)
|
|
|
|
NM_007259.5(VPS45):c.591A>G (p.Lys197=)
|
|
|
|
NM_007259.5(VPS45):c.597T>C (p.Tyr199=)
|
rs781964920
|
|
|
NM_007259.5(VPS45):c.600A>G (p.Glu200=)
|
|
|
|
NM_007259.5(VPS45):c.603G>A (p.Leu201=)
|
|
|
|
NM_007259.5(VPS45):c.609A>G (p.Glu203=)
|
|
|
|
NM_007259.5(VPS45):c.615T>C (p.Arg205=)
|
rs2101521872
|
|
|
NM_007259.5(VPS45):c.619A>G (p.Thr207Ala)
|
|
|
|
NM_007259.5(VPS45):c.621A>C (p.Thr207=)
|
rs1655474952
|
|
|
NM_007259.5(VPS45):c.634T>C (p.Leu212=)
|
|
|
|
NM_007259.5(VPS45):c.645T>A (p.Ile215=)
|
rs2101522081
|
|
|
NM_007259.5(VPS45):c.654C>G (p.Arg218=)
|
|
|
|
NM_007259.5(VPS45):c.658G>C (p.Asp220His)
|
rs1175122293
|
|
|
NM_007259.5(VPS45):c.663T>C (p.Asp221=)
|
rs2101522140
|
|
|
NM_007259.5(VPS45):c.666C>A (p.Ala222=)
|
|
|
|
NM_007259.5(VPS45):c.671C>A (p.Thr224Asn)
|
rs879255237
|
|
|
NM_007259.5(VPS45):c.675A>G (p.Pro225=)
|
rs1553798458
|
|
|
NM_007259.5(VPS45):c.680T>C (p.Leu227Pro)
|
|
|
|
NM_007259.5(VPS45):c.684C>T (p.Asn228=)
|
rs937860591
|
|
|
NM_007259.5(VPS45):c.687+19G>T
|
|
|
|
NM_007259.5(VPS45):c.687+20C>A
|
|
|
|
NM_007259.5(VPS45):c.687+5A>G
|
|
|
|
NM_007259.5(VPS45):c.687+9C>T
|
|
|
|
NM_007259.5(VPS45):c.688-16A>G
|
|
|
|
NM_007259.5(VPS45):c.690G>T (p.Trp230Cys)
|
rs1655694540
|
|
|
NM_007259.5(VPS45):c.695_696del (p.Tyr232fs)
|
rs782700993
|
|
|
NM_007259.5(VPS45):c.696T>C (p.Tyr232=)
|
|
|
|
NM_007259.5(VPS45):c.6C>T (p.Asn2=)
|
rs1571803153
|
|
|
NM_007259.5(VPS45):c.702C>T (p.Ala234=)
|
rs782301145
|
|
|
NM_007259.5(VPS45):c.708C>G (p.Val236=)
|
|
|
|
NM_007259.5(VPS45):c.708C>T (p.Val236=)
|
|
|
|
NM_007259.5(VPS45):c.714A>G (p.Glu238=)
|
|
|
|
NM_007259.5(VPS45):c.717A>G (p.Leu239=)
|
rs782635202
|
|
|
NM_007259.5(VPS45):c.720A>G (p.Leu240=)
|
|
|
|
NM_007259.5(VPS45):c.72A>G (p.Val24=)
|
rs2101472739
|
|
|
NM_007259.5(VPS45):c.739A>G (p.Ile247Val)
|
rs1553799320
|
|
|
NM_007259.5(VPS45):c.73C>A (p.Leu25Ile)
|
rs782367453
|
|
|
NM_007259.5(VPS45):c.747T>G (p.Leu249=)
|
rs2101534085
|
|
|
NM_007259.5(VPS45):c.750C>T (p.Ser250=)
|
rs1571831530
|
|
|
NM_007259.5(VPS45):c.777A>T (p.Leu259Phe)
|
rs2101534236
|
|
|
NM_007259.5(VPS45):c.783A>G (p.Glu261=)
|
rs1655704399
|
|
|
NM_007259.5(VPS45):c.786G>A (p.Val262=)
|
rs2101534304
|
|
|
NM_007259.5(VPS45):c.790C>T (p.Leu264=)
|
|
|
|
NM_007259.5(VPS45):c.816T>C (p.Tyr272=)
|
rs782759963
|
|
|
NM_007259.5(VPS45):c.821A>G (p.Asn274Ser)
|
rs2101534429
|
|
|
NM_007259.5(VPS45):c.822+14A>T
|
|
|
|
NM_007259.5(VPS45):c.822+16T>G
|
|
|
|
NM_007259.5(VPS45):c.822+9T>A
|
rs781898521
|
|
|
NM_007259.5(VPS45):c.822+9T>C
|
|
|
|
NM_007259.5(VPS45):c.823-11C>T
|
rs1655733894
|
|
|
NM_007259.5(VPS45):c.823-12T>C
|
|
|
|
NM_007259.5(VPS45):c.823-13T>C
|
|
|
|
NM_007259.5(VPS45):c.823-20T>C
|
|
|
|
NM_007259.5(VPS45):c.823-5C>T
|
|
|
|
NM_007259.5(VPS45):c.823-7T>G
|
rs2101535746
|
|
|
NM_007259.5(VPS45):c.832C>T (p.Leu278=)
|
|
|
|
NM_007259.5(VPS45):c.852T>A (p.Gly284=)
|
|
|
|
NM_007259.5(VPS45):c.852T>C (p.Gly284=)
|
rs2101535822
|
|
|
NM_007259.5(VPS45):c.861A>G (p.Ile287Met)
|
|
|
|
NM_007259.5(VPS45):c.87A>G (p.Lys29=)
|
|
|
|
NM_007259.5(VPS45):c.888G>A (p.Lys296=)
|
rs1315600520
|
|
|
NM_007259.5(VPS45):c.921A>C (p.Ser307=)
|
rs2101536025
|
|
|
NM_007259.5(VPS45):c.926C>T (p.Ala309Val)
|
rs782583704
|
|
|
NM_007259.5(VPS45):c.93+10C>G
|
|
|
|
NM_007259.5(VPS45):c.93+13_93+14dup
|
|
|
|
NM_007259.5(VPS45):c.93+14T>C
|
|
|
|
NM_007259.5(VPS45):c.93+16C>T
|
|
|
|
NM_007259.5(VPS45):c.93+17T>G
|
|
|
|
NM_007259.5(VPS45):c.93+18C>A
|
|
|
|
NM_007259.5(VPS45):c.93+19A>T
|
rs2101473009
|
|
|
NM_007259.5(VPS45):c.936+11C>G
|
|
|
|
NM_007259.5(VPS45):c.936+11C>T
|
|
|
|
NM_007259.5(VPS45):c.936+12A>G
|
|
|
|
NM_007259.5(VPS45):c.936+14G>A
|
|
|
|
NM_007259.5(VPS45):c.936+15T>G
|
|
|
|
NM_007259.5(VPS45):c.936+16A>G
|
rs2101536193
|
|
|
NM_007259.5(VPS45):c.936+9A>C
|
|
|
|
NM_007259.5(VPS45):c.937-10C>A
|
rs587634693
|
|
|
NM_007259.5(VPS45):c.937-11del
|
|
|
|
NM_007259.5(VPS45):c.937-12T>A
|
|
|
|
NM_007259.5(VPS45):c.937-8C>T
|
rs2101538592
|
|
|
NM_007259.5(VPS45):c.938C>T (p.Ala313Val)
|
|
|
|
NM_007259.5(VPS45):c.94-16T>C
|
|
|
|
NM_007259.5(VPS45):c.94-18A>T
|
|
|
|
NM_007259.5(VPS45):c.942T>C (p.Phe314=)
|
|
|
|
NM_007259.5(VPS45):c.948G>A (p.Glu316=)
|
|
|
|
NM_007259.5(VPS45):c.957A>G (p.Pro319=)
|
|
|
|
NM_007259.5(VPS45):c.96T>C (p.Thr32=)
|
|
|
|
NM_007259.5(VPS45):c.982G>A (p.Val328Ile)
|
|
|
|
NM_007259.5(VPS45):c.982G>C (p.Val328Leu)
|
|
|
|
NM_007259.5(VPS45):c.993T>C (p.His331=)
|
|
|
|
NM_013275.6(ANKRD11):c.6349_6362del (p.Pro2117fs)
|
rs2151736830
|
|
|
NM_013336.4(SEC61A1):c.275A>G (p.Gln92Arg)
|
|
|
|
NM_014230.4(SRP68):c.184+2T>C
|
|
|
|
NM_015122.3(FCHO1):c.100G>C (p.Ala34Pro)
|
rs2086875746
|
|
|
NM_015122.3(FCHO1):c.1948C>T (p.Arg650Ter)
|
rs1336566500
|
|
|
NM_015122.3(FCHO1):c.195-2A>C
|
rs2089298923
|
|
|
NM_015122.3(FCHO1):c.2023dup (p.Val675fs)
|
rs2093571190
|
|
|
NM_015122.3(FCHO1):c.2036G>C (p.Arg679Pro)
|
rs530286781
|
|
|
NM_017890.4(VPS13B):c.10018_10021delGTTG
|
rs1554579522
|
|
|
NM_017890.4(VPS13B):c.6733_6748del16
|
|
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
|
NM_017890.4:c.3542_3543ins5
|
|
|
|
NM_017890.4:c.7128_7129ins5
|
|
|
|
NM_017890.5(VPS13B):c.4158-2A>G
|
rs2133626470
|
|
|
NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs)
|
rs1554824897
|
|
|
NM_017890.5(VPS13B):c.4164G>A (p.Gly1388=)
|
rs2133626492
|
|
|
NM_017890.5(VPS13B):c.4165G>T (p.Glu1389Ter)
|
|
|
|
NM_017890.5(VPS13B):c.4170G>A (p.Glu1390=)
|
|
|
|
NM_017890.5(VPS13B):c.4176G>A (p.Trp1392Ter)
|
|
|
|
NM_017890.5(VPS13B):c.4181T>C (p.Leu1394Ser)
|
|
|
|
NM_017890.5(VPS13B):c.4188A>G (p.Gln1396=)
|
|
|
|
NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His)
|
rs768432188
|
|
|
NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=)
|
rs1554824934
|
|
|
NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp)
|
rs1554824936
|
|
|
NM_017890.5(VPS13B):c.4205T>G (p.Leu1402Arg)
|
rs2133626664
|
|
|
NM_017890.5(VPS13B):c.4206T>C (p.Leu1402=)
|
|
|
|
NM_017890.5(VPS13B):c.4207del (p.Ser1403fs)
|
|
|
|
NM_017890.5(VPS13B):c.4208C>T (p.Ser1403Phe)
|
rs2133626671
|
|
|
NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=)
|
rs1455372294
|
|
|
NM_017890.5(VPS13B):c.4221G>A (p.Lys1407=)
|
|
|
|
NM_017890.5(VPS13B):c.4225A>G (p.Asn1409Asp)
|
|
|
|
NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs)
|
rs1554824976
|
|
|
NM_017890.5(VPS13B):c.4233dup (p.Thr1412fs)
|
rs2133626786
|
|
|
NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn)
|
rs1554824983
|
|
|
NM_017890.5(VPS13B):c.4236C>A (p.Thr1412=)
|
rs1208581851
|
|
|
NM_017890.5(VPS13B):c.4236C>T (p.Thr1412=)
|
rs1208581851
|
|
|
NM_017890.5(VPS13B):c.4243G>C (p.Val1415Leu)
|
|
|
|
NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=)
|
rs1554825004
|
|
|
NM_017890.5(VPS13B):c.4250C>G (p.Pro1417Arg)
|
rs1554825009
|
|
|
NM_017890.5(VPS13B):c.4255A>C (p.Ser1419Arg)
|
rs1821583064
|
|
|
NM_017890.5(VPS13B):c.4260G>A (p.Lys1420=)
|
rs1183099236
|
|
|
NM_017890.5(VPS13B):c.4268C>A (p.Pro1423His)
|
|
|
|
NM_017890.5(VPS13B):c.4272C>G (p.Phe1424Leu)
|
rs1554825023
|
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
|
NM_017890.5(VPS13B):c.4293T>C (p.Phe1431=)
|
rs2133626942
|
|
|
NM_020207.7:c.[2156delG];[3300_3303delTCAA]
|
|
|
|
NM_022575.4(VPS16):c.540G>T (p.Trp180Cys)
|
rs2089219111
|
|
|
NM_024598.3:c.334dup
|
|
|
|
NM_024598.4(USB1):c.176_177del (p.Gly59fs)
|
rs759761915
|
|
|
NM_024598.4(USB1):c.179del (p.Pro60fs)
|
rs786205051
|
|
|
NM_024598.4(USB1):c.209G>A (p.Arg70Gln)
|
rs767016894
|
|
|
NM_024598.4(USB1):c.232C>T (p.Arg78Ter)
|
rs374559185
|
|
|
NM_024598.4(USB1):c.258T>A (p.Tyr86Ter)
|
rs199820065
|
|
|
NM_024598.4(USB1):c.265+2T>G
|
rs1555497680
|
|
|
NM_024598.4(USB1):c.266-1G>A
|
rs1555498092
|
|
|
NM_024598.4(USB1):c.267T>A (p.Tyr89Ter)
|
rs771096742
|
|
|
NM_024598.4(USB1):c.334dup (p.Arg112fs)
|
rs1555498117
|
|
|
NM_024598.4(USB1):c.345del (p.Arg115_Met116insTer)
|
rs1555498120
|
|
|
NM_024598.4(USB1):c.370T>C (p.Ser124Pro)
|
rs1597049287
|
|
|
NM_024598.4(USB1):c.415C>T (p.Gln139Ter)
|
rs1555498129
|
|
|
NM_024598.4(USB1):c.450-2A>G
|
rs1555498396
|
|
|
NM_024598.4(USB1):c.489_492del (p.Asn163fs)
|
rs777667891
|
|
|
NM_024598.4(USB1):c.499del (p.Thr167fs)
|
rs1555498399
|
|
|
NM_024598.4(USB1):c.502A>G (p.Arg168Gly)
|
rs137853971
|
|
|
NM_024598.4(USB1):c.504-2A>C
|
rs137853970
|
|
|
NM_024598.4(USB1):c.518T>G (p.Leu173Arg)
|
rs1555498563
|
|
|
NM_024598.4(USB1):c.531del (p.His179fs)
|
rs1555498565
|
|
|
NM_024598.4(USB1):c.541C>T (p.Gln181Ter)
|
rs1555498573
|
|
|
NM_024598.4(USB1):c.609+1G>A
|
rs1555498581
|
|
|
NM_024598.4(USB1):c.623A>G (p.His208Arg)
|
rs1249059283
|
|
|
NM_024598.4(USB1):c.63del (p.Met22fs)
|
rs747958554
|
|
|
NM_024598.4(USB1):c.683_693+1del
|
rs137853972
|
|
|
NM_024598.4(USB1):c.693+1G>T
|
rs1292827495
|
|
|
NM_024598.4(USB1):c.796T>G (p.Ter266Gly)
|
rs1963706554
|
|
|
NM_032492.4(JAGN1):c.*9T>C
|
rs11554811
|
|
|
NM_032492.4(JAGN1):c.102G>A (p.Lys34=)
|
|
|
|
NM_032492.4(JAGN1):c.111C>G (p.Ile37Met)
|
rs1215307853
|
|
|
NM_032492.4(JAGN1):c.11G>T (p.Arg4Leu)
|
rs569985954
|
|
|
NM_032492.4(JAGN1):c.120G>A (p.Leu40=)
|
rs2082572609
|
|
|
NM_032492.4(JAGN1):c.126C>T (p.Tyr42=)
|
|
|
|
NM_032492.4(JAGN1):c.130C>T (p.His44Tyr)
|
rs587777728
|
|
|
NM_032492.4(JAGN1):c.138C>T (p.Val46=)
|
rs528473640
|
|
|
NM_032492.4(JAGN1):c.142T>C (p.Trp48Arg)
|
|
|
|
NM_032492.4(JAGN1):c.145C>G (p.Leu49Val)
|
rs2125061097
|
|
|
NM_032492.4(JAGN1):c.159T>C (p.Ala53=)
|
rs201196372
|
|
|
NM_032492.4(JAGN1):c.163A>T (p.Met55Leu)
|
rs1311043090
|
|
|
NM_032492.4(JAGN1):c.186C>G (p.Leu62=)
|
rs776988033
|
|
|
NM_032492.4(JAGN1):c.193C>T (p.His65Tyr)
|
rs2125061122
|
|
|
NM_032492.4(JAGN1):c.205G>A (p.Ala69Thr)
|
rs2082573376
|
|
|
NM_032492.4(JAGN1):c.211C>A (p.Pro71Thr)
|
rs200023062
|
|
|
NM_032492.4(JAGN1):c.215A>G (p.Tyr72Cys)
|
|
|
|
NM_032492.4(JAGN1):c.24_60del (p.Ala9fs)
|
|
|
|
NM_032492.4(JAGN1):c.258_259del (p.Leu87fs)
|
rs1232664557
|
|
|
NM_032492.4(JAGN1):c.259_260del (p.Leu87fs)
|
|
|
|
NM_032492.4(JAGN1):c.260T>C (p.Leu87Ser)
|
rs1433604133
|
|
|
NM_032492.4(JAGN1):c.264C>T (p.Gly88=)
|
|
|
|
NM_032492.4(JAGN1):c.268C>T (p.Leu90Phe)
|
|
|
|
NM_032492.4(JAGN1):c.279C>T (p.Pro93=)
|
rs1444280254
|
|
|
NM_032492.4(JAGN1):c.280C>G (p.Arg94Gly)
|
rs866176976
|
|
|
NM_032492.4(JAGN1):c.295T>A (p.Tyr99Asn)
|
|
|
|
NM_032492.4(JAGN1):c.297C>G (p.Tyr99Ter)
|
rs786205705
|
|
|
NM_032492.4(JAGN1):c.310A>G (p.Met104Val)
|
|
|
|
NM_032492.4(JAGN1):c.313A>G (p.Ile105Val)
|
|
|
|
NM_032492.4(JAGN1):c.317G>A (p.Ser106Asn)
|
rs2082574453
|
|
|
NM_032492.4(JAGN1):c.327C>G (p.Leu109=)
|
|
|
|
NM_032492.4(JAGN1):c.339T>C (p.Ala113=)
|
|
|
|
NM_032492.4(JAGN1):c.346A>G (p.Ile116Val)
|
rs1467031121
|
|
|
NM_032492.4(JAGN1):c.354C>T (p.Gly118=)
|
|
|
|
NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)
|
rs587777731
|
|
|
NM_032492.4(JAGN1):c.36C>G (p.Thr12=)
|
|
|
|
NM_032492.4(JAGN1):c.392G>A (p.Arg131His)
|
rs542419840
|
|
|
NM_032492.4(JAGN1):c.394C>T (p.His132Tyr)
|
rs1444848644
|
|
|
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser)
|
rs786205704
|
|
|
NM_032492.4(JAGN1):c.419T>G (p.Phe140Cys)
|
|
|
|
NM_032492.4(JAGN1):c.41G>A (p.Gly14Asp)
|
rs1575466167
|
|
|
NM_032492.4(JAGN1):c.420del (p.Phe140fs)
|
|
|
|
NM_032492.4(JAGN1):c.43A>G (p.Ser15Gly)
|
rs943577194
|
|
|
NM_032492.4(JAGN1):c.46G>T (p.Asp16Tyr)
|
rs1177521463
|
|
|
NM_032492.4(JAGN1):c.496A>T (p.Ser166Cys)
|
rs372426169
|
|
|
NM_032492.4(JAGN1):c.505C>T (p.Leu169Phe)
|
|
|
|
NM_032492.4(JAGN1):c.517T>A (p.Trp173Arg)
|
rs2082575975
|
|
|
NM_032492.4(JAGN1):c.519G>T (p.Trp173Cys)
|
rs1043365547
|
|
|
NM_032492.4(JAGN1):c.51T>G (p.Phe17Leu)
|
|
|
|
NM_032492.4(JAGN1):c.525C>G (p.Thr175=)
|
|
|
|
NM_032492.4(JAGN1):c.538AAG[1] (p.Lys181del)
|
rs756989255
|
|
|
NM_032492.4(JAGN1):c.540G>A (p.Lys180=)
|
|
|
|
NM_032492.4(JAGN1):c.57C>T (p.His19=)
|
rs2082556963
|
|
|
NM_032492.4(JAGN1):c.63G>T (p.Glu21Asp)
|
rs587777729
|
|
|
NM_032492.4(JAGN1):c.70_76del (p.Ala24fs)
|
rs2082557086
|
|
|
NM_032492.4(JAGN1):c.74T>C (p.Met25Thr)
|
|
|
|
NM_032492.4(JAGN1):c.77A>T (p.His26Leu)
|
rs1559259122
|
|
|
NM_032492.4(JAGN1):c.78C>T (p.His26=)
|
|
|
|
NM_032492.4(JAGN1):c.89+15G>T
|
|
|
|
NM_032492.4(JAGN1):c.89+1G>A
|
|
|
|
NM_032492.4(JAGN1):c.89G>A (p.Ser30Asn)
|
|
|
|
NM_032492.4(JAGN1):c.90-13C>G
|
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|
|
NM_032492.4(JAGN1):c.90-16C>T
|
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|
|
NM_032492.4(JAGN1):c.90-18C>G
|
rs371744656
|
|
|
NM_138387.4(G6PC3):c.*151G>C
|
rs1046770
|
|
|
NM_138387.4(G6PC3):c.*1CTT[1]
|
rs761219348
|
|
|
NM_138387.4(G6PC3):c.*234C>G
|
rs763555878
|
|
|
NM_138387.4(G6PC3):c.*67G>A
|
rs11544393
|
|
|
NM_138387.4(G6PC3):c.-162G>A
|
rs536609615
|
|
|
NM_138387.4(G6PC3):c.-191T>G
|
rs886052984
|
|
|
NM_138387.4(G6PC3):c.1002G>T (p.Met334Ile)
|
|
|
|
NM_138387.4(G6PC3):c.1007G>C (p.Ser336Thr)
|
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|
|
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter)
|
rs889605875
|
|
|
NM_138387.4(G6PC3):c.1014G>A (p.Gln338=)
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|
|
NM_138387.4(G6PC3):c.101A>T (p.Asp34Val)
|
rs2049968647
|
|
|
NM_138387.4(G6PC3):c.1023G>A (p.Pro341=)
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|
|
NM_138387.4(G6PC3):c.105C>A (p.Pro35=)
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|
NM_138387.4(G6PC3):c.106A>C (p.Lys36Gln)
|
rs2144135194
|
|
|
NM_138387.4(G6PC3):c.108G>A (p.Lys36=)
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|
|
|
NM_138387.4(G6PC3):c.110T>G (p.Ile37Ser)
|
rs1157699874
|
|
|
NM_138387.4(G6PC3):c.124T>A (p.Tyr42Asn)
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|
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|
NM_138387.4(G6PC3):c.129C>T (p.Phe43=)
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NM_138387.4(G6PC3):c.12G>A (p.Thr4=)
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|
NM_138387.4(G6PC3):c.12G>C (p.Thr4=)
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NM_138387.4(G6PC3):c.131C>T (p.Pro44Leu)
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NM_138387.4(G6PC3):c.138C>T (p.Ala46=)
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|
NM_138387.4(G6PC3):c.141C>G (p.Tyr47Ter)
|
rs118203970
|
|
|
NM_138387.4(G6PC3):c.141C>T (p.Tyr47=)
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|
NM_138387.4(G6PC3):c.142T>G (p.Tyr48Asp)
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NM_138387.4(G6PC3):c.144C>A (p.Tyr48Ter)
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|
NM_138387.4(G6PC3):c.144C>G (p.Tyr48Ter)
|
rs1194477276
|
|
|
NM_138387.4(G6PC3):c.145G>A (p.Ala49Thr)
|
rs1417784733
|
|
|
NM_138387.4(G6PC3):c.146C>T (p.Ala49Val)
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|
NM_138387.4(G6PC3):c.147C>T (p.Ala49=)
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|
NM_138387.4(G6PC3):c.153C>G (p.Arg51=)
|
rs761215881
|
|
|
NM_138387.4(G6PC3):c.163del (p.Ile55fs)
|
|
|
|
NM_138387.4(G6PC3):c.165C>T (p.Ile55=)
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|
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|
NM_138387.4(G6PC3):c.168G>T (p.Ala56=)
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|
|
|
NM_138387.4(G6PC3):c.16G>T (p.Gly6Cys)
|
rs760709054
|
|
|
NM_138387.4(G6PC3):c.171G>A (p.Val57=)
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|
|
NM_138387.4(G6PC3):c.171G>T (p.Val57=)
|
rs759787635
|
|
|
NM_138387.4(G6PC3):c.175T>C (p.Trp59Arg)
|
rs752966267
|
|
|
NM_138387.4(G6PC3):c.183C>A (p.Ser61Arg)
|
rs2144135649
|
|
|
NM_138387.4(G6PC3):c.184C>T (p.Leu62Phe)
|
rs2144135656
|
|
|
NM_138387.4(G6PC3):c.187A>G (p.Ile63Val)
|
rs34878178
|
|
|
NM_138387.4(G6PC3):c.192C>T (p.Thr64=)
|
rs780837377
|
|
|
NM_138387.4(G6PC3):c.199_218+1del
|
rs1597905369
|
|
|
NM_138387.4(G6PC3):c.203A>G (p.Asn68Ser)
|
|
|
|
NM_138387.4(G6PC3):c.207C>G (p.Leu69=)
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|
|
NM_138387.4(G6PC3):c.207C>T (p.Leu69=)
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|
|
NM_138387.4(G6PC3):c.210_213del (p.Phe71fs)
|
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|
|
NM_138387.4(G6PC3):c.211_213dup (p.Phe71_Lys72insPhe)
|
|
|
|
NM_138387.4(G6PC3):c.213C>T (p.Phe71=)
|
rs1392954032
|
|
|
NM_138387.4(G6PC3):c.215del (p.Lys72fs)
|
|
|
|
NM_138387.4(G6PC3):c.218+14G>C
|
|
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NM_138387.4(G6PC3):c.218+16C>T
|
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|
NM_138387.4(G6PC3):c.218+17del
|
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|
NM_138387.4(G6PC3):c.218+18T>C
|
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NM_138387.4(G6PC3):c.218+20C>T
|
|
|
|
NM_138387.4(G6PC3):c.218+2T>C
|
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|
|
NM_138387.4(G6PC3):c.218+486A>G
|
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NM_138387.4(G6PC3):c.218+8A>G
|
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NM_138387.4(G6PC3):c.218+9G>C
|
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|
|
NM_138387.4(G6PC3):c.219-12G>A
|
|
|
|
NM_138387.4(G6PC3):c.219-12G>T
|
|
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|
NM_138387.4(G6PC3):c.219-18G>T
|
|
|
|
NM_138387.4(G6PC3):c.224T>C (p.Leu75Pro)
|
rs2144145534
|
|
|
NM_138387.4(G6PC3):c.228T>G (p.Phe76Leu)
|
rs2144145566
|
|
|
NM_138387.4(G6PC3):c.234C>T (p.Asp78=)
|
|
|
|
NM_138387.4(G6PC3):c.237G>A (p.Arg79=)
|
|
|
|
NM_138387.4(G6PC3):c.240C>G (p.Pro80=)
|
rs960728758
|
|
|
NM_138387.4(G6PC3):c.246G>A (p.Trp82Ter)
|
|
|
|
NM_138387.4(G6PC3):c.24C>T (p.Gly8=)
|
|
|
|
NM_138387.4(G6PC3):c.262G>A (p.Gly88Ser)
|
|
|
|
NM_138387.4(G6PC3):c.267C>G (p.Tyr89Ter)
|
|
|
|
NM_138387.4(G6PC3):c.27C>T (p.Ile9=)
|
|
|
|
NM_138387.4(G6PC3):c.280C>T (p.Pro94Ser)
|
|
|
|
NM_138387.4(G6PC3):c.285C>A (p.Ala95=)
|
|
|
|
NM_138387.4(G6PC3):c.304T>G (p.Ser102Ala)
|
|
|
|
NM_138387.4(G6PC3):c.305C>T (p.Ser102Phe)
|
rs750742016
|
|
|
NM_138387.4(G6PC3):c.30G>A (p.Val10=)
|
|
|
|
NM_138387.4(G6PC3):c.30G>C (p.Val10=)
|
|
|
|
NM_138387.4(G6PC3):c.31A>G (p.Ile11Val)
|
rs1597905158
|
|
|
NM_138387.4(G6PC3):c.325+14A>G
|
|
|
|
NM_138387.4(G6PC3):c.325+14_325+17del
|
|
|
|
NM_138387.4(G6PC3):c.325+18T>C
|
|
|
|
NM_138387.4(G6PC3):c.325+20del
|
|
|
|
NM_138387.4(G6PC3):c.325+2T>G
|
|
|
|
NM_138387.4(G6PC3):c.325+8G>A
|
|
|
|
NM_138387.4(G6PC3):c.325G>A (p.Gly109Ser)
|
|
|
|
NM_138387.4(G6PC3):c.326-19C>T
|
|
|
|
NM_138387.4(G6PC3):c.326-20G>A
|
|
|
|
NM_138387.4(G6PC3):c.326-7C>T
|
|
|
|
NM_138387.4(G6PC3):c.327C>A (p.Gly109=)
|
|
|
|
NM_138387.4(G6PC3):c.337G>A (p.Gly113Arg)
|
rs2144147052
|
|
|
NM_138387.4(G6PC3):c.345C>T (p.Cys115=)
|
|
|
|
NM_138387.4(G6PC3):c.346A>G (p.Met116Val)
|
rs267606834
|
|
|
NM_138387.4(G6PC3):c.358G>T (p.Ala120Ser)
|
rs2050044130
|
|
|
NM_138387.4(G6PC3):c.374T>A (p.Ile125Lys)
|
rs2050045175
|
|
|
NM_138387.4(G6PC3):c.376A>G (p.Met126Val)
|
rs1597908497
|
|
|
NM_138387.4(G6PC3):c.376del (p.Ile125_Met126insTer)
|
|
|
|
NM_138387.4(G6PC3):c.377T>C (p.Met126Thr)
|
rs886052986
|
|
|
NM_138387.4(G6PC3):c.37G>C (p.Glu13Gln)
|
rs754034468
|
|
|
NM_138387.4(G6PC3):c.384C>G (p.Ala128=)
|
|
|
|
NM_138387.4(G6PC3):c.384C>T (p.Ala128=)
|
|
|
|
NM_138387.4(G6PC3):c.386T>C (p.Leu129Pro)
|
|
|
|
NM_138387.4(G6PC3):c.393G>A (p.Ser131=)
|
|
|
|
NM_138387.4(G6PC3):c.3G>T (p.Met1Ile)
|
|
|
|
NM_138387.4(G6PC3):c.404C>T (p.Thr135Ile)
|
|
|
|
NM_138387.4(G6PC3):c.408G>A (p.Arg136=)
|
|
|
|
NM_138387.4(G6PC3):c.416+11G>A
|
|
|
|
NM_138387.4(G6PC3):c.416+13C>A
|
|
|
|
NM_138387.4(G6PC3):c.416+13C>T
|
|
|
|
NM_138387.4(G6PC3):c.416+14A>G
|
|
|
|
NM_138387.4(G6PC3):c.416+17G>A
|
|
|
|
NM_138387.4(G6PC3):c.416+19C>G
|
|
|
|
NM_138387.4(G6PC3):c.416+1G>A
|
|
|
|
NM_138387.4(G6PC3):c.416+3A>G
|
rs2050047994
|
|
|
NM_138387.4(G6PC3):c.416+6C>T
|
|
|
|
NM_138387.4(G6PC3):c.416+8C>G
|
|
|
|
NM_138387.4(G6PC3):c.416G>T (p.Ser139Ile)
|
|
|
|
NM_138387.4(G6PC3):c.417-11C>G
|
|
|
|
NM_138387.4(G6PC3):c.417-11C>T
|
|
|
|
NM_138387.4(G6PC3):c.417-13C>T
|
|
|
|
NM_138387.4(G6PC3):c.417-14T>C
|
rs2050055854
|
|
|
NM_138387.4(G6PC3):c.417-15C>G
|
|
|
|
NM_138387.4(G6PC3):c.417-16C>T
|
|
|
|
NM_138387.4(G6PC3):c.417-18T>G
|
|
|
|
NM_138387.4(G6PC3):c.417-19T>G
|
|
|
|
NM_138387.4(G6PC3):c.417-1G>A
|
|
|
|
NM_138387.4(G6PC3):c.417-9T>C
|
|
|
|
NM_138387.4(G6PC3):c.417-9T>G
|
rs759937203
|
|
|
NM_138387.4(G6PC3):c.419G>A (p.Arg140His)
|
rs989437299
|
|
|
NM_138387.4(G6PC3):c.420C>T (p.Arg140=)
|
|
|
|
NM_138387.4(G6PC3):c.441C>T (p.Ser147=)
|
|
|
|
NM_138387.4(G6PC3):c.453C>T (p.Cys151=)
|
|
|
|
NM_138387.4(G6PC3):c.456C>A (p.Thr152=)
|
|
|
|
NM_138387.4(G6PC3):c.456C>T (p.Thr152=)
|
|
|
|
NM_138387.4(G6PC3):c.459C>G (p.Phe153Leu)
|
|
|
|
NM_138387.4(G6PC3):c.45A>G (p.Leu15=)
|
rs2144134939
|
|
|
NM_138387.4(G6PC3):c.464del (p.Leu155fs)
|
rs1295168770
|
|
|
NM_138387.4(G6PC3):c.467C>T (p.Ala156Val)
|
|
|
|
NM_138387.4(G6PC3):c.468G>T (p.Ala156=)
|
rs141663645
|
|
|
NM_138387.4(G6PC3):c.470T>C (p.Val157Ala)
|
|
|
|
NM_138387.4(G6PC3):c.481C>T (p.Arg161Ter)
|
|
|
|
NM_138387.4(G6PC3):c.482G>C (p.Arg161Pro)
|
rs1485073209
|
|
|
NM_138387.4(G6PC3):c.486C>T (p.Ile162=)
|
rs2144149561
|
|
|
NM_138387.4(G6PC3):c.490A>G (p.Ile164Val)
|
|
|
|
NM_138387.4(G6PC3):c.492C>T (p.Ile164=)
|
|
|
|
NM_138387.4(G6PC3):c.495A>G (p.Leu165=)
|
|
|
|
NM_138387.4(G6PC3):c.510C>T (p.His170=)
|
rs2050059834
|
|
|
NM_138387.4(G6PC3):c.528A>G (p.Leu176=)
|
|
|
|
NM_138387.4(G6PC3):c.529A>G (p.Ile177Val)
|
|
|
|
NM_138387.4(G6PC3):c.535+14G>A
|
|
|
|
NM_138387.4(G6PC3):c.535+14G>C
|
rs756398916
|
|
|
NM_138387.4(G6PC3):c.535+18C>T
|
|
|
|
NM_138387.4(G6PC3):c.535+19G>A
|
|
|
|
NM_138387.4(G6PC3):c.535+20G>C
|
|
|
|
NM_138387.4(G6PC3):c.535+8A>G
|
|
|
|
NM_138387.4(G6PC3):c.536-11C>T
|
|
|
|
NM_138387.4(G6PC3):c.536-11_536-7del
|
|
|
|
NM_138387.4(G6PC3):c.536-14C>T
|
|
|
|
NM_138387.4(G6PC3):c.536-2A>G
|
|
|
|
NM_138387.4(G6PC3):c.536-4C>G
|
rs2144151616
|
|
|
NM_138387.4(G6PC3):c.536-5C>T
|
|
|
|
NM_138387.4(G6PC3):c.544C>T (p.Leu182=)
|
|
|
|
NM_138387.4(G6PC3):c.552G>A (p.Trp184Ter)
|
|
|
|
NM_138387.4(G6PC3):c.554T>C (p.Leu185Pro)
|
rs118203969
|
|
|
NM_138387.4(G6PC3):c.555G>A (p.Leu185=)
|
|
|
|
NM_138387.4(G6PC3):c.55C>T (p.Leu19=)
|
|
|
|
NM_138387.4(G6PC3):c.560C>T (p.Thr187Ile)
|
|
|
|
NM_138387.4(G6PC3):c.568G>A (p.Val190Met)
|
rs2050072075
|
|
|
NM_138387.4(G6PC3):c.56T>C (p.Leu19Pro)
|
rs2144134978
|
|
|
NM_138387.4(G6PC3):c.575T>C (p.Met192Thr)
|
|
|
|
NM_138387.4(G6PC3):c.575dup (p.Met192fs)
|
|
|
|
NM_138387.4(G6PC3):c.57A>G (p.Leu19=)
|
|
|
|
NM_138387.4(G6PC3):c.583G>A (p.Glu195Lys)
|
|
|
|
NM_138387.4(G6PC3):c.585G>A (p.Glu195=)
|
|
|
|
NM_138387.4(G6PC3):c.601T>C (p.Leu201=)
|
|
|
|
NM_138387.4(G6PC3):c.60C>G (p.Ala20=)
|
|
|
|
NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp)
|
rs764056109
|
|
|
NM_138387.4(G6PC3):c.626G>C (p.Gly209Ala)
|
|
|
|
NM_138387.4(G6PC3):c.62G>A (p.Trp21Ter)
|
|
|
|
NM_138387.4(G6PC3):c.635del (p.Leu212fs)
|
rs769634275
|
|
|
NM_138387.4(G6PC3):c.636C>T (p.Leu212=)
|
rs1409898506
|
|
|
NM_138387.4(G6PC3):c.63G>A (p.Trp21Ter)
|
|
|
|
NM_138387.4(G6PC3):c.643T>C (p.Trp215Arg)
|
rs2144152394
|
|
|
NM_138387.4(G6PC3):c.648C>T (p.Thr216=)
|
|
|
|
NM_138387.4(G6PC3):c.651C>G (p.Leu217=)
|
|
|
|
NM_138387.4(G6PC3):c.651C>T (p.Leu217=)
|
|
|
|
NM_138387.4(G6PC3):c.657A>G (p.Thr219=)
|
rs2050074491
|
|
|
NM_138387.4(G6PC3):c.666G>A (p.Leu222=)
|
rs2050074839
|
|
|
NM_138387.4(G6PC3):c.669T>C (p.Asp223=)
|
|
|
|
NM_138387.4(G6PC3):c.672T>A (p.Leu224=)
|
|
|
|
NM_138387.4(G6PC3):c.674C>G (p.Ser225Cys)
|
rs748442084
|
|
|
NM_138387.4(G6PC3):c.674C>T (p.Ser225Phe)
|
|
|
|
NM_138387.4(G6PC3):c.677+1G>A
|
rs778208850
|
|
|
NM_138387.4(G6PC3):c.677+5G>A
|
rs560767207
|
|
|
NM_138387.4(G6PC3):c.677+7C>T
|
rs1045392209
|
|
|
NM_138387.4(G6PC3):c.678-16C>T
|
|
|
|
NM_138387.4(G6PC3):c.678-1G>T
|
|
|
|
NM_138387.4(G6PC3):c.678-6C>T
|
|
|
|
NM_138387.4(G6PC3):c.678-8C>A
|
rs753515098
|
|
|
NM_138387.4(G6PC3):c.678-8C>T
|
|
|
|
NM_138387.4(G6PC3):c.684C>A (p.Ile228=)
|
|
|
|
NM_138387.4(G6PC3):c.684C>T (p.Ile228=)
|
|
|
|
NM_138387.4(G6PC3):c.688C>T (p.Leu230=)
|
|
|
|
NM_138387.4(G6PC3):c.710G>C (p.Arg237Pro)
|
|
|
|
NM_138387.4(G6PC3):c.714T>C (p.Pro238=)
|
|
|
|
NM_138387.4(G6PC3):c.731A>G (p.Asp244Gly)
|
rs2144155135
|
|
|
NM_138387.4(G6PC3):c.732T>A (p.Asp244Glu)
|
rs1597911422
|
|
|
NM_138387.4(G6PC3):c.732T>C (p.Asp244=)
|
rs1597911422
|
|
|
NM_138387.4(G6PC3):c.735C>A (p.Ser245Arg)
|
rs2050088788
|
|
|
NM_138387.4(G6PC3):c.736C>T (p.Arg246Trp)
|
rs1198102696
|
|
|
NM_138387.4(G6PC3):c.740C>G (p.Pro247Arg)
|
rs1158728815
|
|
|
NM_138387.4(G6PC3):c.747C>T (p.Ala249=)
|
|
|
|
NM_138387.4(G6PC3):c.753G>A (p.Leu251=)
|
|
|
|
NM_138387.4(G6PC3):c.758_781del (p.Arg253_Gly260del)
|
rs777475388
|
|
|
NM_138387.4(G6PC3):c.765A>G (p.Ser255=)
|
|
|
|
NM_138387.4(G6PC3):c.765del (p.Ala257fs)
|
|
|
|
NM_138387.4(G6PC3):c.768G>A (p.Gly256=)
|
|
|
|
NM_138387.4(G6PC3):c.777G>A (p.Leu259=)
|
|
|
|
NM_138387.4(G6PC3):c.784G>C (p.Gly262Arg)
|
rs118203971
|
|
|
NM_138387.4(G6PC3):c.790G>A (p.Ala264Thr)
|
|
|
|
NM_138387.4(G6PC3):c.792C>T (p.Ala264=)
|
|
|
|
NM_138387.4(G6PC3):c.798C>T (p.His266=)
|
rs558164927
|
|
|
NM_138387.4(G6PC3):c.806_808del (p.Cys269del)
|
rs1199375457
|
|
|
NM_138387.4(G6PC3):c.807C>T (p.Cys269=)
|
rs2144155706
|
|
|
NM_138387.4(G6PC3):c.816G>A (p.Gln272=)
|
rs960279172
|
|
|
NM_138387.4(G6PC3):c.81C>G (p.Leu27=)
|
|
|
|
NM_138387.4(G6PC3):c.81C>T (p.Leu27=)
|
rs1324312988
|
|
|
NM_138387.4(G6PC3):c.820C>T (p.Arg274Cys)
|
|
|
|
NM_138387.4(G6PC3):c.823C>G (p.Arg275Gly)
|
|
|
|
NM_138387.4(G6PC3):c.837A>G (p.Gly279=)
|
|
|
|
NM_138387.4(G6PC3):c.851T>G (p.Ile284Arg)
|
rs2050092912
|
|
|
NM_138387.4(G6PC3):c.854C>A (p.Ala285Asp)
|
rs1335171821
|
|
|
NM_138387.4(G6PC3):c.855C>T (p.Ala285=)
|
|
|
|
NM_138387.4(G6PC3):c.861T>A (p.Leu287=)
|
|
|
|
NM_138387.4(G6PC3):c.861T>C (p.Leu287=)
|
|
|
|
NM_138387.4(G6PC3):c.865C>T (p.Leu289=)
|
|
|
|
NM_138387.4(G6PC3):c.867G>A (p.Leu289=)
|
|
|
|
NM_138387.4(G6PC3):c.86T>C (p.Ile29Thr)
|
rs2144135089
|
|
|
NM_138387.4(G6PC3):c.870C>A (p.Ala290=)
|
|
|
|
NM_138387.4(G6PC3):c.877C>T (p.Leu293=)
|
|
|
|
NM_138387.4(G6PC3):c.87C>A (p.Ile29=)
|
|
|
|
NM_138387.4(G6PC3):c.886C>T (p.Pro296Ser)
|
|
|
|
NM_138387.4(G6PC3):c.891G>A (p.Leu297=)
|
|
|
|
NM_138387.4(G6PC3):c.903C>T (p.Gly301=)
|
|
|
|
NM_138387.4(G6PC3):c.904C>T (p.His302Tyr)
|
rs2050096005
|
|
|
NM_138387.4(G6PC3):c.908C>A (p.Pro303His)
|
rs776556492
|
|
|
NM_138387.4(G6PC3):c.909C>A (p.Pro303=)
|
|
|
|
NM_138387.4(G6PC3):c.909C>G (p.Pro303=)
|
|
|
|
NM_138387.4(G6PC3):c.90C>T (p.Thr30=)
|
|
|
|
NM_138387.4(G6PC3):c.910C>T (p.Pro304Ser)
|
rs1314910205
|
|
|
NM_138387.4(G6PC3):c.911dup (p.Gln305fs)
|
rs34019455
|
|
|
NM_138387.4(G6PC3):c.920G>A (p.Ser307Asn)
|
|
|
|
NM_138387.4(G6PC3):c.922C>T (p.Leu308Phe)
|
rs2050097163
|
|
|
NM_138387.4(G6PC3):c.924C>G (p.Leu308=)
|
rs978510802
|
|
|
NM_138387.4(G6PC3):c.929A>T (p.Tyr310Phe)
|
rs2144156840
|
|
|
NM_138387.4(G6PC3):c.935dup (p.Asn313fs)
|
rs797044567
|
|
|
NM_138387.4(G6PC3):c.937A>T (p.Asn313Tyr)
|
rs2144156932
|
|
|
NM_138387.4(G6PC3):c.940T>C (p.Phe314Leu)
|
rs1212393526
|
|
|
NM_138387.4(G6PC3):c.945C>G (p.Leu315=)
|
|
|
|
NM_138387.4(G6PC3):c.954C>T (p.Thr318=)
|
|
|
|
NM_138387.4(G6PC3):c.957C>T (p.Leu319=)
|
|
|
|
NM_138387.4(G6PC3):c.98G>A (p.Gly33Asp)
|
rs1448628053
|
|
|
NM_138387.4(G6PC3):c.993A>G (p.Ala331=)
|
|
|
|
NM_138387.4(G6PC3):c.995T>G (p.Val332Gly)
|
rs1013640910
|
|
|
NM_138387.4(G6PC3):c.99C>A (p.Gly33=)
|
|
|
|
NM_138387.4(G6PC3):c.99C>T (p.Gly33=)
|
|
|
|
NM_152564.5(VPS13B):c.*1101TGAT[3]
|
rs543048641
|
|
|
NM_152564.5(VPS13B):c.*1106_*1108dup
|
rs765534822
|
|
|
NM_152564.5(VPS13B):c.*1211G>A
|
rs1025183545
|
|
|
NM_152564.5(VPS13B):c.*1212TC[4]
|
rs1258731393
|
|
|
NM_152564.5(VPS13B):c.*1431G>A
|
rs866313484
|
|
|
NM_152564.5(VPS13B):c.*1483C>A
|
rs886062558
|
|
|
NM_152564.5(VPS13B):c.*1504_*1507dup
|
rs747583708
|
|
|
NM_152564.5(VPS13B):c.*1570G>A
|
rs186440514
|
|
|
NM_152564.5(VPS13B):c.*1571A>G
|
rs1817736511
|
|
|
NM_152564.5(VPS13B):c.*250_*252dup
|
rs71274940
|
|
|
NM_152564.5(VPS13B):c.*270C>T
|
rs886062550
|
|
|
NM_152564.5(VPS13B):c.*33_*36dup
|
rs373852425
|
|
|
NM_152564.5(VPS13B):c.*374ATTT[1]
|
rs374440758
|
|
|
NM_152564.5(VPS13B):c.*431TTA[1]
|
rs10542428
|
|
|
NM_152564.5(VPS13B):c.*597_*598dup
|
rs397791669
|
|
|
NM_152564.5(VPS13B):c.*700GAT[1]
|
rs60078732
|
|
|
NM_152564.5(VPS13B):c.*701A>T
|
rs932121133
|
|
|
NM_152564.5(VPS13B):c.*733A>T
|
rs886062555
|
|
|
NM_152564.5(VPS13B):c.*740G>C
|
rs886062556
|
|
|
NM_152564.5(VPS13B):c.-30+5G>A
|
|
|
|
NM_152564.5(VPS13B):c.-30+6C>G
|
rs147672364
|
|
|
NM_152564.5(VPS13B):c.10000_10019dup (p.Pro3341fs)
|
rs2130902516
|
|
|
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)
|
rs386834054
|
|
|
NM_152564.5(VPS13B):c.10002A>G (p.Thr3334=)
|
|
|
|
NM_152564.5(VPS13B):c.10008C>T (p.Phe3336=)
|
|
|
|
NM_152564.5(VPS13B):c.10011C>G (p.Ile3337Met)
|
rs542986432
|
|
|
NM_152564.5(VPS13B):c.10018G>A (p.Ala3340Thr)
|
rs1816114703
|
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
|
NM_152564.5(VPS13B):c.10020C>A (p.Ala3340=)
|
|
|
|
NM_152564.5(VPS13B):c.1002T>C (p.Tyr334=)
|
|
|
|
NM_152564.5(VPS13B):c.10030A>G (p.Lys3344Glu)
|
|
|
|
NM_152564.5(VPS13B):c.10037G>C (p.Gly3346Ala)
|
rs2130902601
|
|
|
NM_152564.5(VPS13B):c.10038A>G (p.Gly3346=)
|
|
|
|
NM_152564.5(VPS13B):c.10039C>T (p.Pro3347Ser)
|
|
|
|
NM_152564.5(VPS13B):c.10050C>A (p.Thr3350=)
|
|
|
|
NM_152564.5(VPS13B):c.10053T>C (p.Asn3351=)
|
rs1393247141
|
|
|
NM_152564.5(VPS13B):c.10056C>T (p.Thr3352=)
|
rs2130902671
|
|
|
NM_152564.5(VPS13B):c.10059C>G (p.Asn3353Lys)
|
|
|
|
NM_152564.5(VPS13B):c.1005A>G (p.Ser335=)
|
|
|
|
NM_152564.5(VPS13B):c.10061+10A>G
|
|
|
|
NM_152564.5(VPS13B):c.10061+10A>T
|
|
|
|
NM_152564.5(VPS13B):c.10061+10_10061+13del
|
rs2130902722
|
|
|
NM_152564.5(VPS13B):c.10061+16T>G
|
|
|
|
NM_152564.5(VPS13B):c.10061+20C>G
|
|
|
|
NM_152564.5(VPS13B):c.10061+20C>T
|
|
|
|
NM_152564.5(VPS13B):c.10061+4G>C
|
rs964791071
|
|
|
NM_152564.5(VPS13B):c.10062-13C>G
|
|
|
|
NM_152564.5(VPS13B):c.10062-13C>T
|
rs773907481
|
|
|
NM_152564.5(VPS13B):c.10062-13del
|
|
|
|
NM_152564.5(VPS13B):c.10062-15C>T
|
|
|
|
NM_152564.5(VPS13B):c.10062-16T>G
|
|
|
|
NM_152564.5(VPS13B):c.10062-17G>A
|
|
|
|
NM_152564.5(VPS13B):c.10062-20C>A
|
|
|
|
NM_152564.5(VPS13B):c.10062-2A>G
|
rs1554581156
|
|
|
NM_152564.5(VPS13B):c.10062-4C>T
|
rs1217688828
|
|
|
NM_152564.5(VPS13B):c.10062-6_10062-4del
|
|
|
|
NM_152564.5(VPS13B):c.10065G>A (p.Ala3355=)
|
rs61753726
|
|
|
NM_152564.5(VPS13B):c.10069G>A (p.Glu3357Lys)
|
rs1563509434
|
|
|
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter)
|
rs1554625617
|
|
|
NM_152564.5(VPS13B):c.10080del (p.Thr3361fs)
|
|
|
|
NM_152564.5(VPS13B):c.10087A>T (p.Lys3363Ter)
|
rs1816395005
|
|
|
NM_152564.5(VPS13B):c.1008G>C (p.Gln336His)
|
rs2132515981
|
|
|
NM_152564.5(VPS13B):c.10095C>T (p.Phe3365=)
|
|
|
|
NM_152564.5(VPS13B):c.10104G>C (p.Gln3368His)
|
|
|
|
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter)
|
rs1057516437
|
|
|
NM_152564.5(VPS13B):c.10110C>T (p.Ser3370=)
|
rs755978152
|
|
|
NM_152564.5(VPS13B):c.10113G>T (p.Leu3371=)
|
|
|
|
NM_152564.5(VPS13B):c.10128C>T (p.Asp3376=)
|
|
|
|
NM_152564.5(VPS13B):c.10129C>T (p.Leu3377Phe)
|
rs535553836
|
|
|
NM_152564.5(VPS13B):c.10134C>T (p.Thr3378=)
|
|
|
|
NM_152564.5(VPS13B):c.10137C>T (p.His3379=)
|
rs2130916576
|
|
|
NM_152564.5(VPS13B):c.10138C>A (p.His3380Asn)
|
|
|
|
NM_152564.5(VPS13B):c.10139A>G (p.His3380Arg)
|
|
|
|
NM_152564.5(VPS13B):c.10140C>G (p.His3380Gln)
|
rs1309702539
|
|
|
NM_152564.5(VPS13B):c.10148C>G (p.Ser3383Ter)
|
rs1014479884
|
|
|
NM_152564.5(VPS13B):c.10149A>T (p.Ser3383=)
|
|
|
|
NM_152564.5(VPS13B):c.1014T>C (p.Asp338=)
|
|
|
|
NM_152564.5(VPS13B):c.10152T>C (p.Ala3384=)
|
rs374129601
|
|
|
NM_152564.5(VPS13B):c.10159C>G (p.Leu3387Val)
|
|
|
|
NM_152564.5(VPS13B):c.10159C>T (p.Leu3387=)
|
rs2130916651
|
|
|
NM_152564.5(VPS13B):c.10161_10170del (p.Arg3388fs)
|
|
|
|
NM_152564.5(VPS13B):c.10165_10207del (p.Leu3389fs)
|
rs875989882
|
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
|
NM_152564.5(VPS13B):c.10169C>G (p.Thr3390Arg)
|
|
|
|
NM_152564.5(VPS13B):c.10170A>C (p.Thr3390=)
|
|
|
|
NM_152564.5(VPS13B):c.10171C>T (p.Leu3391=)
|
rs2130916698
|
|
|
NM_152564.5(VPS13B):c.10173G>A (p.Leu3391=)
|
rs1588786090
|
|
|
NM_152564.5(VPS13B):c.10175ACA[1] (p.Asn3393del)
|
rs1554581280
|
|
|
NM_152564.5(VPS13B):c.10181T>G (p.Ile3394Ser)
|
|
|
|
NM_152564.5(VPS13B):c.10189del (p.Cys3397fs)
|
|
|
|
NM_152564.5(VPS13B):c.10193T>C (p.Val3398Ala)
|
rs953219294
|
|
|
NM_152564.5(VPS13B):c.10194G>A (p.Val3398=)
|
|
|
|
NM_152564.5(VPS13B):c.10197C>T (p.Ala3399=)
|
rs1816400490
|
|
|
NM_152564.5(VPS13B):c.10198C>T (p.Pro3400Ser)
|
rs1816400653
|
|
|
NM_152564.5(VPS13B):c.10199C>G (p.Pro3400Arg)
|
rs368041601
|
|
|
NM_152564.5(VPS13B):c.10203A>T (p.Gly3401=)
|
|
|
|
NM_152564.5(VPS13B):c.10208G>A (p.Gly3403Asp)
|
|
|
|
NM_152564.5(VPS13B):c.10209dup (p.Pro3404fs)
|
|
|
|
NM_152564.5(VPS13B):c.1020G>A (p.Glu340=)
|
|
|
|
NM_152564.5(VPS13B):c.10215C>T (p.Leu3405=)
|
|
|
|
NM_152564.5(VPS13B):c.10224A>T (p.Glu3408Asp)
|
|
|
|
NM_152564.5(VPS13B):c.10227G>A (p.Glu3409=)
|
rs2130916876
|
|
|
NM_152564.5(VPS13B):c.10232T>G (p.Val3411Gly)
|
|
|
|
NM_152564.5(VPS13B):c.10233G>A (p.Val3411=)
|
|
|
|
NM_152564.5(VPS13B):c.10233G>C (p.Val3411=)
|
|
|
|
NM_152564.5(VPS13B):c.10242G>T (p.Leu3414Phe)
|
rs746258724
|
|
|
NM_152564.5(VPS13B):c.10246G>A (p.Glu3416Lys)
|
|
|
|
NM_152564.5(VPS13B):c.10247A>G (p.Glu3416Gly)
|
|
|
|
NM_152564.5(VPS13B):c.10251T>G (p.Leu3417=)
|
rs1187238292
|
|
|
NM_152564.5(VPS13B):c.10257T>C (p.Cys3419=)
|
rs764214907
|
|
|
NM_152564.5(VPS13B):c.1025C>T (p.Pro342Leu)
|
rs138271331
|
|
|
NM_152564.5(VPS13B):c.10263G>A (p.Glu3421=)
|
|
|
|
NM_152564.5(VPS13B):c.10266C>T (p.Ile3422=)
|
|
|
|
NM_152564.5(VPS13B):c.10270T>G (p.Cys3424Gly)
|
rs2130917061
|
|
|
NM_152564.5(VPS13B):c.10272T>A (p.Cys3424Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10272T>C (p.Cys3424=)
|
|
|
|
NM_152564.5(VPS13B):c.10274G>C (p.Gly3425Ala)
|
rs1816406076
|
|
|
NM_152564.5(VPS13B):c.1027C>G (p.Gln343Glu)
|
|
|
|
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)
|
rs1554625632
|
|
|
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs)
|
rs1563509743
|
|
|
NM_152564.5(VPS13B):c.10297C>T (p.Leu3433Phe)
|
rs1816407178
|
|
|
NM_152564.5(VPS13B):c.10299T>C (p.Leu3433=)
|
|
|
|
NM_152564.5(VPS13B):c.102C>G (p.Asp34Glu)
|
|
|
|
NM_152564.5(VPS13B):c.10302T>A (p.Tyr3434Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10320C>G (p.His3440Gln)
|
rs747699484
|
|
|
NM_152564.5(VPS13B):c.10320C>T (p.His3440=)
|
|
|
|
NM_152564.5(VPS13B):c.10325C>T (p.Ala3442Val)
|
|
|
|
NM_152564.5(VPS13B):c.10326T>G (p.Ala3442=)
|
rs2130917205
|
|
|
NM_152564.5(VPS13B):c.10327del (p.Val3443fs)
|
rs1816408985
|
|
|
NM_152564.5(VPS13B):c.1032A>G (p.Gly344=)
|
|
|
|
NM_152564.5(VPS13B):c.10335C>T (p.Val3445=)
|
rs575624046
|
|
|
NM_152564.5(VPS13B):c.10337G>T (p.Cys3446Phe)
|
rs1260587896
|
|
|
NM_152564.5(VPS13B):c.10344A>G (p.Gly3448=)
|
|
|
|
NM_152564.5(VPS13B):c.1034G>A (p.Trp345Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10351G>A (p.Ala3451Thr)
|
rs1343470928
|
|
|
NM_152564.5(VPS13B):c.10352_10354del (p.Ala3451del)
|
rs1554581420
|
|
|
NM_152564.5(VPS13B):c.10356A>G (p.Glu3452=)
|
rs2130917266
|
|
|
NM_152564.5(VPS13B):c.10359C>T (p.Pro3453=)
|
|
|
|
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs)
|
rs1554581430
|
|
|
NM_152564.5(VPS13B):c.10371C>T (p.Ser3457=)
|
|
|
|
NM_152564.5(VPS13B):c.10376T>C (p.Met3459Thr)
|
|
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
|
NM_152564.5(VPS13B):c.10384C>G (p.Leu3462Val)
|
rs761972356
|
|
|
NM_152564.5(VPS13B):c.10386C>G (p.Leu3462=)
|
|
|
|
NM_152564.5(VPS13B):c.10389C>A (p.Leu3463=)
|
|
|
|
NM_152564.5(VPS13B):c.1038G>T (p.Val346=)
|
|
|
|
NM_152564.5(VPS13B):c.10401A>G (p.Lys3467=)
|
|
|
|
NM_152564.5(VPS13B):c.10403A>G (p.Glu3468Gly)
|
rs2130917390
|
|
|
NM_152564.5(VPS13B):c.10405T>C (p.Leu3469=)
|
|
|
|
NM_152564.5(VPS13B):c.1040C>T (p.Ser347Leu)
|
|
|
|
NM_152564.5(VPS13B):c.1040del (p.Ser347fs)
|
rs1057516971
|
|
|
NM_152564.5(VPS13B):c.10413A>G (p.Glu3471=)
|
|
|
|
NM_152564.5(VPS13B):c.10414T>C (p.Tyr3472His)
|
rs1816414341
|
|
|
NM_152564.5(VPS13B):c.10419G>A (p.Lys3473=)
|
rs2130917440
|
|
|
NM_152564.5(VPS13B):c.1041A>T (p.Ser347=)
|
rs149176010
|
|
|
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)
|
rs1816414644
|
|
|
NM_152564.5(VPS13B):c.10426T>C (p.Cys3476Arg)
|
rs886062549
|
|
|
NM_152564.5(VPS13B):c.1043G>A (p.Trp348Ter)
|
rs2132516120
|
|
|
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)
|
rs1554581504
|
|
|
NM_152564.5(VPS13B):c.10441T>C (p.Cys3481Arg)
|
|
|
|
NM_152564.5(VPS13B):c.10449C>T (p.Thr3483=)
|
|
|
|
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)
|
rs1847921335
|
|
|
NM_152564.5(VPS13B):c.10455T>C (p.Asn3485=)
|
rs2130917547
|
|
|
NM_152564.5(VPS13B):c.10455T>G (p.Asn3485Lys)
|
rs2130917547
|
|
|
NM_152564.5(VPS13B):c.10458A>G (p.Glu3486=)
|
rs2130917565
|
|
|
NM_152564.5(VPS13B):c.10459G>A (p.Gly3487Ser)
|
|
|
|
NM_152564.5(VPS13B):c.1045G>A (p.Ala349Thr)
|
|
|
|
NM_152564.5(VPS13B):c.10461C>G (p.Gly3487=)
|
|
|
|
NM_152564.5(VPS13B):c.10470C>T (p.Ile3490=)
|
|
|
|
NM_152564.5(VPS13B):c.10476T>C (p.Cys3492=)
|
|
|
|
NM_152564.5(VPS13B):c.1047C>T (p.Ala349=)
|
rs751477638
|
|
|
NM_152564.5(VPS13B):c.10481T>A (p.Ile3494Asn)
|
|
|
|
NM_152564.5(VPS13B):c.10497T>C (p.Phe3499=)
|
rs781420614
|
|
|
NM_152564.5(VPS13B):c.10497T>G (p.Phe3499Leu)
|
rs781420614
|
|
|
NM_152564.5(VPS13B):c.10501T>C (p.Leu3501=)
|
|
|
|
NM_152564.5(VPS13B):c.10510G>C (p.Ala3504Pro)
|
rs2130917686
|
|
|
NM_152564.5(VPS13B):c.10513C>A (p.Arg3505=)
|
|
|
|
NM_152564.5(VPS13B):c.10514G>A (p.Arg3505Gln)
|
|
|
|
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu)
|
rs770999005
|
|
|
NM_152564.5(VPS13B):c.10518A>G (p.Leu3506=)
|
rs759427770
|
|
|
NM_152564.5(VPS13B):c.10527A>G (p.Glu3509=)
|
rs113120767
|
|
|
NM_152564.5(VPS13B):c.10533A>C (p.Thr3511=)
|
|
|
|
NM_152564.5(VPS13B):c.10538T>C (p.Val3513Ala)
|
rs1816420784
|
|
|
NM_152564.5(VPS13B):c.10539A>T (p.Val3513=)
|
|
|
|
NM_152564.5(VPS13B):c.10544A>G (p.Tyr3515Cys)
|
rs1816421633
|
|
|
NM_152564.5(VPS13B):c.10544_10545delinsGA (p.Tyr3515Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10545C>A (p.Tyr3515Ter)
|
rs758842658
|
|
|
NM_152564.5(VPS13B):c.10555T>G (p.Leu3519Val)
|
rs755371144
|
|
|
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs)
|
rs1554581632
|
|
|
NM_152564.5(VPS13B):c.10557G>A (p.Leu3519=)
|
rs2130917868
|
|
|
NM_152564.5(VPS13B):c.10557del (p.Leu3519fs)
|
rs1816422602
|
|
|
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)
|
rs1354326532
|
|
|
NM_152564.5(VPS13B):c.10563C>T (p.Asp3521=)
|
|
|
|
NM_152564.5(VPS13B):c.1056T>G (p.Phe352Leu)
|
|
|
|
NM_152564.5(VPS13B):c.10570C>T (p.Leu3524Phe)
|
rs2130917896
|
|
|
NM_152564.5(VPS13B):c.10578C>G (p.Asn3526Lys)
|
rs148265212
|
|
|
NM_152564.5(VPS13B):c.10578C>T (p.Asn3526=)
|
|
|
|
NM_152564.5(VPS13B):c.10579A>C (p.Ser3527Arg)
|
rs1816423653
|
|
|
NM_152564.5(VPS13B):c.10581C>T (p.Ser3527=)
|
rs770945510
|
|
|
NM_152564.5(VPS13B):c.10594C>G (p.His3532Asp)
|
rs1588786822
|
|
|
NM_152564.5(VPS13B):c.1059G>A (p.Val353=)
|
|
|
|
NM_152564.5(VPS13B):c.105G>A (p.Val35=)
|
rs2132125551
|
|
|
NM_152564.5(VPS13B):c.105G>T (p.Val35=)
|
rs2132125551
|
|
|
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs)
|
rs1554581676
|
|
|
NM_152564.5(VPS13B):c.10605C>T (p.His3535=)
|
rs937349095
|
|
|
NM_152564.5(VPS13B):c.10613G>A (p.Gly3538Glu)
|
|
|
|
NM_152564.5(VPS13B):c.1061C>T (p.Pro354Leu)
|
rs1274673849
|
|
|
NM_152564.5(VPS13B):c.10629G>A (p.Leu3543=)
|
|
|
|
NM_152564.5(VPS13B):c.10633A>C (p.Met3545Leu)
|
|
|
|
NM_152564.5(VPS13B):c.10633A>T (p.Met3545Leu)
|
|
|
|
NM_152564.5(VPS13B):c.10634T>A (p.Met3545Lys)
|
rs1816426749
|
|
|
NM_152564.5(VPS13B):c.10636C>T (p.Gln3546Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10638G>A (p.Gln3546=)
|
|
|
|
NM_152564.5(VPS13B):c.10644A>G (p.Thr3548=)
|
|
|
|
NM_152564.5(VPS13B):c.10644A>T (p.Thr3548=)
|
rs2130918119
|
|
|
NM_152564.5(VPS13B):c.1064C>A (p.Ala355Glu)
|
|
|
|
NM_152564.5(VPS13B):c.10650C>G (p.His3550Gln)
|
rs372367817
|
|
|
NM_152564.5(VPS13B):c.10651G>A (p.Ala3551Thr)
|
|
|
|
NM_152564.5(VPS13B):c.10653C>G (p.Ala3551=)
|
rs2130918176
|
|
|
NM_152564.5(VPS13B):c.10659C>T (p.Ala3553=)
|
rs2130918188
|
|
|
NM_152564.5(VPS13B):c.10660T>C (p.Leu3554=)
|
|
|
|
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10664T>C (p.Val3555Ala)
|
rs2130918209
|
|
|
NM_152564.5(VPS13B):c.10667A>C (p.Asn3556Thr)
|
|
|
|
NM_152564.5(VPS13B):c.10670C>T (p.Pro3557Leu)
|
|
|
|
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs)
|
rs1057517137
|
|
|
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
|
|
|
|
NM_152564.5(VPS13B):c.10680A>G (p.Leu3560=)
|
rs779816885
|
|
|
NM_152564.5(VPS13B):c.10681C>A (p.Arg3561=)
|
rs200232124
|
|
|
NM_152564.5(VPS13B):c.10689G>A (p.Leu3563=)
|
rs1482772027
|
|
|
NM_152564.5(VPS13B):c.10696C>T (p.Gln3566Ter)
|
rs2130918298
|
|
|
NM_152564.5(VPS13B):c.10705A>G (p.Asn3569Asp)
|
rs2130918326
|
|
|
NM_152564.5(VPS13B):c.10707T>C (p.Asn3569=)
|
|
|
|
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs)
|
rs1554625693
|
|
|
NM_152564.5(VPS13B):c.10726G>A (p.Ala3576Thr)
|
rs779069069
|
|
|
NM_152564.5(VPS13B):c.10728T>C (p.Ala3576=)
|
|
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
|
NM_152564.5(VPS13B):c.10739T>C (p.Leu3580Pro)
|
|
|
|
NM_152564.5(VPS13B):c.10740G>A (p.Leu3580=)
|
|
|
|
NM_152564.5(VPS13B):c.10740G>T (p.Leu3580=)
|
rs768333660
|
|
|
NM_152564.5(VPS13B):c.10743C>T (p.Tyr3581=)
|
|
|
|
NM_152564.5(VPS13B):c.10749C>T (p.Ala3583=)
|
rs2130918435
|
|
|
NM_152564.5(VPS13B):c.1075T>C (p.Tyr359His)
|
|
|
|
NM_152564.5(VPS13B):c.10761T>C (p.Thr3587=)
|
|
|
|
NM_152564.5(VPS13B):c.10763C>G (p.Pro3588Arg)
|
|
|
|
NM_152564.5(VPS13B):c.10764T>G (p.Pro3588=)
|
rs1477900241
|
|
|
NM_152564.5(VPS13B):c.10765C>G (p.Leu3589Val)
|
|
|
|
NM_152564.5(VPS13B):c.10765C>T (p.Leu3589Phe)
|
rs551114360
|
|
|
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs)
|
rs386834056
|
|
|
NM_152564.5(VPS13B):c.10770C>T (p.Ser3590=)
|
|
|
|
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del)
|
rs1554581821
|
|
|
NM_152564.5(VPS13B):c.10775C>T (p.Ser3592Leu)
|
|
|
|
NM_152564.5(VPS13B):c.10776G>C (p.Ser3592=)
|
rs547516730
|
|
|
NM_152564.5(VPS13B):c.10779G>A (p.Val3593=)
|
rs2130918492
|
|
|
NM_152564.5(VPS13B):c.10787G>T (p.Arg3596Ile)
|
|
|
|
NM_152564.5(VPS13B):c.10791A>G (p.Gly3597=)
|
rs985145622
|
|
|
NM_152564.5(VPS13B):c.10794C>G (p.Pro3598=)
|
|
|
|
NM_152564.5(VPS13B):c.10794C>T (p.Pro3598=)
|
rs776249260
|
|
|
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs)
|
rs1057516274
|
|
|
NM_152564.5(VPS13B):c.107T>A (p.Val36Glu)
|
rs1433110217
|
|
|
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs)
|
rs1554561356
|
|
|
NM_152564.5(VPS13B):c.10800C>T (p.Phe3600=)
|
|
|
|
NM_152564.5(VPS13B):c.10804A>T (p.Thr3602Ser)
|
|
|
|
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
|
|
|
|
NM_152564.5(VPS13B):c.10808C>G (p.Ala3603Gly)
|
|
|
|
NM_152564.5(VPS13B):c.1080C>T (p.Asp360=)
|
rs755878394
|
|
|
NM_152564.5(VPS13B):c.10812del (p.Arg3604fs)
|
|
|
|
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)
|
rs120074154
|
|
|
NM_152564.5(VPS13B):c.10815G>T (p.Gln3605His)
|
|
|
|
NM_152564.5(VPS13B):c.10818T>C (p.Leu3606=)
|
|
|
|
NM_152564.5(VPS13B):c.1081G>A (p.Asp361Asn)
|
|
|
|
NM_152564.5(VPS13B):c.1081G>C (p.Asp361His)
|
rs749019850
|
|
|
NM_152564.5(VPS13B):c.1081G>T (p.Asp361Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.10821G>A (p.Val3607=)
|
rs1554581864
|
|
|
NM_152564.5(VPS13B):c.10825G>T (p.Ala3609Ser)
|
|
|
|
NM_152564.5(VPS13B):c.1082A>G (p.Asp361Gly)
|
|
|
|
NM_152564.5(VPS13B):c.10830G>A (p.Leu3610=)
|
|
|
|
NM_152564.5(VPS13B):c.10841A>G (p.Tyr3614Cys)
|
|
|
|
NM_152564.5(VPS13B):c.10842T>C (p.Tyr3614=)
|
rs2130918674
|
|
|
NM_152564.5(VPS13B):c.10844C>A (p.Ala3615Asp)
|
|
|
|
NM_152564.5(VPS13B):c.10845C>A (p.Ala3615=)
|
|
|
|
NM_152564.5(VPS13B):c.10867+11A>C
|
|
|
|
NM_152564.5(VPS13B):c.10867+15T>C
|
rs924741671
|
|
|
NM_152564.5(VPS13B):c.10867+18G>A
|
|
|
|
NM_152564.5(VPS13B):c.10867+1G>T
|
rs780902262
|
|
|
NM_152564.5(VPS13B):c.10867+20del
|
|
|
|
NM_152564.5(VPS13B):c.10867+8C>T
|
rs2130918754
|
|
|
NM_152564.5(VPS13B):c.10867+9A>C
|
|
|
|
NM_152564.5(VPS13B):c.10868-10T>C
|
|
|
|
NM_152564.5(VPS13B):c.10868-10T>G
|
|
|
|
NM_152564.5(VPS13B):c.10868-11G>A
|
rs373157768
|
|
|
NM_152564.5(VPS13B):c.10868-11G>T
|
|
|
|
NM_152564.5(VPS13B):c.10868-15T>C
|
|
|
|
NM_152564.5(VPS13B):c.10868-16C>G
|
rs371370357
|
|
|
NM_152564.5(VPS13B):c.10868-20T>G
|
rs2130933205
|
|
|
NM_152564.5(VPS13B):c.10868-2A>C
|
rs745404712
|
|
|
NM_152564.5(VPS13B):c.10868-2A>G
|
|
|
|
NM_152564.5(VPS13B):c.10868-5T>C
|
|
|
|
NM_152564.5(VPS13B):c.10868-6T>C
|
rs2130933328
|
|
|
NM_152564.5(VPS13B):c.10868-8_10868-7del
|
|
|
|
NM_152564.5(VPS13B):c.10868-9G>T
|
|
|
|
NM_152564.5(VPS13B):c.1086C>T (p.Gly362=)
|
|
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
|
NM_152564.5(VPS13B):c.10871G>C (p.Trp3624Ser)
|
|
|
|
NM_152564.5(VPS13B):c.10873G>T (p.Val3625Leu)
|
rs777314496
|
|
|
NM_152564.5(VPS13B):c.10874T>C (p.Val3625Ala)
|
|
|
|
NM_152564.5(VPS13B):c.10878T>C (p.Val3626=)
|
rs1334951450
|
|
|
NM_152564.5(VPS13B):c.1087G>C (p.Glu363Gln)
|
|
|
|
NM_152564.5(VPS13B):c.10885_10887del (p.Leu3629del)
|
rs1554583497
|
|
|
NM_152564.5(VPS13B):c.10892_10893del (p.Ile3631fs)
|
|
|
|
NM_152564.5(VPS13B):c.10899C>A (p.Gly3633=)
|
rs2130933459
|
|
|
NM_152564.5(VPS13B):c.10902C>T (p.Ser3634=)
|
rs2130933479
|
|
|
NM_152564.5(VPS13B):c.10908A>C (p.Ala3636=)
|
|
|
|
NM_152564.5(VPS13B):c.10908A>G (p.Ala3636=)
|
rs1191575037
|
|
|
NM_152564.5(VPS13B):c.10917G>A (p.Val3639=)
|
rs2130933540
|
|
|
NM_152564.5(VPS13B):c.10926C>T (p.Ile3642=)
|
|
|
|
NM_152564.5(VPS13B):c.10929G>C (p.Gly3643=)
|
|
|
|
NM_152564.5(VPS13B):c.1092A>G (p.Glu364=)
|
|
|
|
NM_152564.5(VPS13B):c.10934G>C (p.Gly3645Ala)
|
|
|
|
NM_152564.5(VPS13B):c.10936G>A (p.Val3646Ile)
|
rs1816712060
|
|
|
NM_152564.5(VPS13B):c.10936del (p.Val3646fs)
|
rs2130933596
|
|
|
NM_152564.5(VPS13B):c.10937T>G (p.Val3646Gly)
|
|
|
|
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=)
|
rs758028194
|
|
|
NM_152564.5(VPS13B):c.10945TTC[1] (p.Phe3650del)
|
|
|
|
NM_152564.5(VPS13B):c.1094A>C (p.Asp365Ala)
|
rs2132516334
|
|
|
NM_152564.5(VPS13B):c.10959G>C (p.Pro3653=)
|
|
|
|
NM_152564.5(VPS13B):c.10961A>G (p.Tyr3654Cys)
|
|
|
|
NM_152564.5(VPS13B):c.10961A>T (p.Tyr3654Phe)
|
rs774678400
|
|
|
NM_152564.5(VPS13B):c.10967G>C (p.Gly3656Ala)
|
|
|
|
NM_152564.5(VPS13B):c.10968G>T (p.Gly3656=)
|
rs2130933693
|
|
|
NM_152564.5(VPS13B):c.10974C>A (p.Thr3658=)
|
|
|
|
NM_152564.5(VPS13B):c.10974C>G (p.Thr3658=)
|
rs375117356
|
|
|
NM_152564.5(VPS13B):c.10975C>T (p.Arg3659Trp)
|
rs1420283003
|
|
|
NM_152564.5(VPS13B):c.10975del (p.Arg3659fs)
|
rs1816713664
|
|
|
NM_152564.5(VPS13B):c.10976G>T (p.Arg3659Leu)
|
rs370507425
|
|
|
NM_152564.5(VPS13B):c.10977G>A (p.Arg3659=)
|
|
|
|
NM_152564.5(VPS13B):c.10980C>A (p.Gly3660=)
|
|
|
|
NM_152564.5(VPS13B):c.10982del (p.Pro3661fs)
|
rs2130933734
|
|
|
NM_152564.5(VPS13B):c.10983T>C (p.Pro3661=)
|
|
|
|
NM_152564.5(VPS13B):c.1098T>C (p.Phe366=)
|
rs1490561096
|
|
|
NM_152564.5(VPS13B):c.10993G>C (p.Val3665Leu)
|
rs151089043
|
|
|
NM_152564.5(VPS13B):c.11001C>A (p.Gly3667=)
|
rs367797468
|
|
|
NM_152564.5(VPS13B):c.11004C>T (p.Val3668=)
|
rs1816715303
|
|
|
NM_152564.5(VPS13B):c.11007C>T (p.Ser3669=)
|
rs2130933830
|
|
|
NM_152564.5(VPS13B):c.11008A>C (p.Arg3670=)
|
rs2130933833
|
|
|
NM_152564.5(VPS13B):c.11016C>T (p.Thr3672=)
|
rs2130933856
|
|
|
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
|
|
|
|
NM_152564.5(VPS13B):c.11016del (p.Thr3673fs)
|
|
|
|
NM_152564.5(VPS13B):c.11019A>T (p.Thr3673=)
|
rs1588794390
|
|
|
NM_152564.5(VPS13B):c.1101T>C (p.Val367=)
|
|
|
|
NM_152564.5(VPS13B):c.11027T>C (p.Val3676Ala)
|
|
|
|
NM_152564.5(VPS13B):c.11028A>C (p.Val3676=)
|
rs746157283
|
|
|
NM_152564.5(VPS13B):c.11031G>A (p.Lys3677=)
|
rs2130933904
|
|
|
NM_152564.5(VPS13B):c.11034C>T (p.His3678=)
|
rs1449788881
|
|
|
NM_152564.5(VPS13B):c.11035A>T (p.Ile3679Phe)
|
|
|
|
NM_152564.5(VPS13B):c.11044+11C>T
|
|
|
|
NM_152564.5(VPS13B):c.11044+12C>T
|
rs1588794469
|
|
|
NM_152564.5(VPS13B):c.11044+19T>C
|
|
|
|
NM_152564.5(VPS13B):c.11044+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.11044+2T>C
|
rs587777382
|
|
|
NM_152564.5(VPS13B):c.11044+5C>G
|
|
|
|
NM_152564.5(VPS13B):c.11044+8G>A
|
rs2130933989
|
|
|
NM_152564.5(VPS13B):c.11044+8G>T
|
|
|
|
NM_152564.5(VPS13B):c.11045-10G>A
|
rs769628992
|
|
|
NM_152564.5(VPS13B):c.11045-10G>C
|
rs769628992
|
|
|
NM_152564.5(VPS13B):c.11045-4T>C
|
rs1588797519
|
|
|
NM_152564.5(VPS13B):c.11047A>G (p.Thr3683Ala)
|
|
|
|
NM_152564.5(VPS13B):c.11047del (p.Thr3683fs)
|
rs2130941591
|
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
|
NM_152564.5(VPS13B):c.11055A>G (p.Thr3685=)
|
rs2130941627
|
|
|
NM_152564.5(VPS13B):c.11057C>A (p.Ser3686Tyr)
|
rs1464523452
|
|
|
NM_152564.5(VPS13B):c.11061C>T (p.Ile3687=)
|
rs2130941649
|
|
|
NM_152564.5(VPS13B):c.11062A>T (p.Thr3688Ser)
|
rs1588797596
|
|
|
NM_152564.5(VPS13B):c.11070C>G (p.Leu3690=)
|
rs185477101
|
|
|
NM_152564.5(VPS13B):c.11076A>G (p.Thr3692=)
|
|
|
|
NM_152564.5(VPS13B):c.11082G>C (p.Leu3694=)
|
|
|
|
NM_152564.5(VPS13B):c.11083del (p.Ala3695fs)
|
|
|
|
NM_152564.5(VPS13B):c.11094G>A (p.Met3698Ile)
|
|
|
|
NM_152564.5(VPS13B):c.11095G>A (p.Asp3699Asn)
|
rs1476526587
|
|
|
NM_152564.5(VPS13B):c.11097C>T (p.Asp3699=)
|
|
|
|
NM_152564.5(VPS13B):c.11099G>A (p.Arg3700Gln)
|
rs750753561
|
|
|
NM_152564.5(VPS13B):c.11099G>T (p.Arg3700Leu)
|
rs750753561
|
|
|
NM_152564.5(VPS13B):c.11103C>A (p.Leu3701=)
|
|
|
|
NM_152564.5(VPS13B):c.11103C>G (p.Leu3701=)
|
|
|
|
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs)
|
rs1057517202
|
|
|
NM_152564.5(VPS13B):c.1110T>C (p.Asp370=)
|
|
|
|
NM_152564.5(VPS13B):c.11113G>A (p.Glu3705Lys)
|
rs780240040
|
|
|
NM_152564.5(VPS13B):c.11115G>A (p.Glu3705=)
|
|
|
|
NM_152564.5(VPS13B):c.11124C>G (p.Tyr3708Ter)
|
rs2130941863
|
|
|
NM_152564.5(VPS13B):c.11124C>T (p.Tyr3708=)
|
rs2130941863
|
|
|
NM_152564.5(VPS13B):c.11134G>A (p.Glu3712Lys)
|
|
|
|
NM_152564.5(VPS13B):c.11134GAG[1] (p.Glu3713del)
|
rs781133717
|
|
|
NM_152564.5(VPS13B):c.11139G>A (p.Glu3713=)
|
|
|
|
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter)
|
rs386834060
|
|
|
NM_152564.5(VPS13B):c.11148G>A (p.Arg3716=)
|
rs2130941995
|
|
|
NM_152564.5(VPS13B):c.11158G>T (p.Glu3720Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs)
|
rs1057517376
|
|
|
NM_152564.5(VPS13B):c.11167G>A (p.Gly3723Ser)
|
|
|
|
NM_152564.5(VPS13B):c.11167G>C (p.Gly3723Arg)
|
rs1816856108
|
|
|
NM_152564.5(VPS13B):c.11169C>G (p.Gly3723=)
|
rs1175793742
|
|
|
NM_152564.5(VPS13B):c.11169C>T (p.Gly3723=)
|
rs1175793742
|
|
|
NM_152564.5(VPS13B):c.1116A>G (p.Ala372=)
|
rs2132516415
|
|
|
NM_152564.5(VPS13B):c.11175G>A (p.Gly3725=)
|
|
|
|
NM_152564.5(VPS13B):c.11179C>T (p.Arg3727Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11181_11215+10del
|
|
|
|
NM_152564.5(VPS13B):c.11187C>G (p.Gly3729=)
|
|
|
|
NM_152564.5(VPS13B):c.11188C>T (p.Leu3730=)
|
rs201448515
|
|
|
NM_152564.5(VPS13B):c.11191T>C (p.Ser3731Pro)
|
rs1816857688
|
|
|
NM_152564.5(VPS13B):c.11194C>T (p.Arg3732Trp)
|
|
|
|
NM_152564.5(VPS13B):c.11199G>A (p.Leu3733=)
|
|
|
|
NM_152564.5(VPS13B):c.11200G>C (p.Gly3734Arg)
|
|
|
|
NM_152564.5(VPS13B):c.11206A>T (p.Ser3736Cys)
|
rs2130942219
|
|
|
NM_152564.5(VPS13B):c.11211G>A (p.Leu3737=)
|
rs1195872726
|
|
|
NM_152564.5(VPS13B):c.11215+10T>G
|
rs1213857516
|
|
|
NM_152564.5(VPS13B):c.11215+19T>C
|
|
|
|
NM_152564.5(VPS13B):c.11215+7G>A
|
rs1588797925
|
|
|
NM_152564.5(VPS13B):c.11215+8G>C
|
|
|
|
NM_152564.5(VPS13B):c.11216-10G>A
|
|
|
|
NM_152564.5(VPS13B):c.11216-14T>A
|
|
|
|
NM_152564.5(VPS13B):c.11216-19A>G
|
|
|
|
NM_152564.5(VPS13B):c.11216-1G>A
|
rs1057517441
|
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
|
NM_152564.5(VPS13B):c.11216-3C>G
|
|
|
|
NM_152564.5(VPS13B):c.11220A>G (p.Ala3740=)
|
|
|
|
NM_152564.5(VPS13B):c.11221A>G (p.Ile3741Val)
|
|
|
|
NM_152564.5(VPS13B):c.11223T>C (p.Ile3741=)
|
|
|
|
NM_152564.5(VPS13B):c.1122C>A (p.Thr374=)
|
rs2132516445
|
|
|
NM_152564.5(VPS13B):c.1122del (p.Met375fs)
|
|
|
|
NM_152564.5(VPS13B):c.11230A>G (p.Ile3744Val)
|
|
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
|
NM_152564.5(VPS13B):c.11242C>A (p.Pro3748Thr)
|
rs2130962900
|
|
|
NM_152564.5(VPS13B):c.11243C>T (p.Pro3748Leu)
|
|
|
|
NM_152564.5(VPS13B):c.11244G>A (p.Pro3748=)
|
rs375229257
|
|
|
NM_152564.5(VPS13B):c.11244G>C (p.Pro3748=)
|
rs375229257
|
|
|
NM_152564.5(VPS13B):c.11252A>T (p.Asn3751Ile)
|
rs2130962939
|
|
|
NM_152564.5(VPS13B):c.11252del (p.Asn3751fs)
|
rs2130962934
|
|
|
NM_152564.5(VPS13B):c.11258A>G (p.Gln3753Arg)
|
rs2130962947
|
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
|
NM_152564.5(VPS13B):c.11264C>T (p.Thr3755Ile)
|
|
|
|
NM_152564.5(VPS13B):c.11265A>G (p.Thr3755=)
|
|
|
|
NM_152564.5(VPS13B):c.11266T>C (p.Ser3756Pro)
|
|
|
|
NM_152564.5(VPS13B):c.11275C>G (p.Gln3759Glu)
|
rs797046093
|
|
|
NM_152564.5(VPS13B):c.11275C>T (p.Gln3759Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11283A>C (p.Ser3761=)
|
rs1817209374
|
|
|
NM_152564.5(VPS13B):c.11284G>A (p.Ala3762Thr)
|
|
|
|
NM_152564.5(VPS13B):c.11285C>T (p.Ala3762Val)
|
rs767840130
|
|
|
NM_152564.5(VPS13B):c.1128T>C (p.His376=)
|
|
|
|
NM_152564.5(VPS13B):c.11292C>T (p.His3764=)
|
|
|
|
NM_152564.5(VPS13B):c.11298dup (p.Lys3767fs)
|
|
|
|
NM_152564.5(VPS13B):c.112A>T (p.Ser38Cys)
|
rs2132125588
|
|
|
NM_152564.5(VPS13B):c.11302G>C (p.Gly3768Arg)
|
|
|
|
NM_152564.5(VPS13B):c.11307C>T (p.Val3769=)
|
rs2130963089
|
|
|
NM_152564.5(VPS13B):c.11313G>A (p.Ser3771=)
|
rs753931096
|
|
|
NM_152564.5(VPS13B):c.11313G>T (p.Ser3771=)
|
rs753931096
|
|
|
NM_152564.5(VPS13B):c.11314G>A (p.Gly3772Ser)
|
|
|
|
NM_152564.5(VPS13B):c.11315G>C (p.Gly3772Ala)
|
|
|
|
NM_152564.5(VPS13B):c.11315del (p.Gly3772fs)
|
|
|
|
NM_152564.5(VPS13B):c.11316T>C (p.Gly3772=)
|
rs757459511
|
|
|
NM_152564.5(VPS13B):c.11316T>G (p.Gly3772=)
|
rs757459511
|
|
|
NM_152564.5(VPS13B):c.11319G>A (p.Val3773=)
|
|
|
|
NM_152564.5(VPS13B):c.11322G>A (p.Gly3774=)
|
rs2130963124
|
|
|
NM_152564.5(VPS13B):c.11325A>G (p.Lys3775=)
|
rs1817211481
|
|
|
NM_152564.5(VPS13B):c.11327G>A (p.Gly3776Glu)
|
|
|
|
NM_152564.5(VPS13B):c.1132C>G (p.Gln378Glu)
|
|
|
|
NM_152564.5(VPS13B):c.11331C>T (p.Ile3777=)
|
|
|
|
NM_152564.5(VPS13B):c.11334G>C (p.Met3778Ile)
|
rs779652081
|
|
|
NM_152564.5(VPS13B):c.11336G>C (p.Gly3779Ala)
|
|
|
|
NM_152564.5(VPS13B):c.11337G>C (p.Gly3779=)
|
rs2130963173
|
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
|
NM_152564.5(VPS13B):c.11339T>C (p.Val3780Ala)
|
rs1817212364
|
|
|
NM_152564.5(VPS13B):c.11352dup (p.Ile3785fs)
|
|
|
|
NM_152564.5(VPS13B):c.11355C>A (p.Ile3785=)
|
|
|
|
NM_152564.5(VPS13B):c.11356G>A (p.Gly3786Arg)
|
rs768255145
|
|
|
NM_152564.5(VPS13B):c.11360G>A (p.Gly3787Glu)
|
|
|
|
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs)
|
rs1554586972
|
|
|
NM_152564.5(VPS13B):c.11362G>A (p.Ala3788Thr)
|
|
|
|
NM_152564.5(VPS13B):c.11364T>G (p.Ala3788=)
|
|
|
|
NM_152564.5(VPS13B):c.11371C>T (p.Leu3791=)
|
rs1817214262
|
|
|
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs)
|
rs1554586994
|
|
|
NM_152564.5(VPS13B):c.11385T>C (p.Thr3795=)
|
|
|
|
NM_152564.5(VPS13B):c.11392+17C>A
|
|
|
|
NM_152564.5(VPS13B):c.11392+17C>G
|
rs775949318
|
|
|
NM_152564.5(VPS13B):c.11392+19C>T
|
rs2130963400
|
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
|
NM_152564.5(VPS13B):c.11392+20A>G
|
|
|
|
NM_152564.5(VPS13B):c.11392+5G>C
|
|
|
|
NM_152564.5(VPS13B):c.11392+771C>A
|
|
|
|
NM_152564.5(VPS13B):c.11392+7C>A
|
|
|
|
NM_152564.5(VPS13B):c.11392+7C>T
|
|
|
|
NM_152564.5(VPS13B):c.11392+8G>T
|
rs147921058
|
|
|
NM_152564.5(VPS13B):c.11392G>A (p.Gly3798Ser)
|
|
|
|
NM_152564.5(VPS13B):c.11393-12C>G
|
|
|
|
NM_152564.5(VPS13B):c.11393-16A>C
|
|
|
|
NM_152564.5(VPS13B):c.11393-16_11393-13del
|
|
|
|
NM_152564.5(VPS13B):c.11393-1G>A
|
rs747363890
|
|
|
NM_152564.5(VPS13B):c.11393-1G>C
|
|
|
|
NM_152564.5(VPS13B):c.11393-20C>G
|
|
|
|
NM_152564.5(VPS13B):c.11393-6C>A
|
|
|
|
NM_152564.5(VPS13B):c.11394T>C (p.Gly3798=)
|
rs2130972325
|
|
|
NM_152564.5(VPS13B):c.11401C>T (p.His3801Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.11403T>C (p.His3801=)
|
|
|
|
NM_152564.5(VPS13B):c.11409T>A (p.Ala3803=)
|
rs2130972371
|
|
|
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs)
|
rs1588810676
|
|
|
NM_152564.5(VPS13B):c.11413_11414del (p.Leu3805fs)
|
|
|
|
NM_152564.5(VPS13B):c.11415T>G (p.Leu3805=)
|
rs2130972392
|
|
|
NM_152564.5(VPS13B):c.11416dup (p.Ser3806fs)
|
|
|
|
NM_152564.5(VPS13B):c.11418T>C (p.Ser3806=)
|
rs2130972408
|
|
|
NM_152564.5(VPS13B):c.11419C>T (p.Gln3807Ter)
|
rs2130972411
|
|
|
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs)
|
rs1588810695
|
|
|
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs)
|
rs386834062
|
|
|
NM_152564.5(VPS13B):c.11431C>T (p.Gln3811Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11433G>A (p.Gln3811=)
|
rs1362645493
|
|
|
NM_152564.5(VPS13B):c.11436C>A (p.Arg3812=)
|
|
|
|
NM_152564.5(VPS13B):c.11437C>T (p.His3813Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.11438_11450del (p.His3813fs)
|
rs2130972502
|
|
|
NM_152564.5(VPS13B):c.1143G>C (p.Gln381His)
|
rs2132516543
|
|
|
NM_152564.5(VPS13B):c.11453_11454insC (p.His3819fs)
|
|
|
|
NM_152564.5(VPS13B):c.11454A>G (p.Leu3818=)
|
rs2130972563
|
|
|
NM_152564.5(VPS13B):c.11461G>A (p.Asp3821Asn)
|
|
|
|
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs)
|
rs1057516284
|
|
|
NM_152564.5(VPS13B):c.11472A>G (p.Pro3824=)
|
rs2130972634
|
|
|
NM_152564.5(VPS13B):c.11473_11476del (p.Asn3825fs)
|
rs2130972632
|
|
|
NM_152564.5(VPS13B):c.11478C>T (p.Ser3826=)
|
|
|
|
NM_152564.5(VPS13B):c.11481T>G (p.His3827Gln)
|
rs2130972661
|
|
|
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs)
|
rs386834063
|
|
|
NM_152564.5(VPS13B):c.11484C>G (p.Val3828=)
|
rs370697316
|
|
|
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs)
|
rs386834064
|
|
|
NM_152564.5(VPS13B):c.11491_11493dup (p.Val3831dup)
|
rs1554588147
|
|
|
NM_152564.5(VPS13B):c.11492T>C (p.Val3831Ala)
|
rs1563519728
|
|
|
NM_152564.5(VPS13B):c.11493C>G (p.Val3831=)
|
|
|
|
NM_152564.5(VPS13B):c.11495+10T>A
|
|
|
|
NM_152564.5(VPS13B):c.11495+10_11495+11delinsAC
|
rs2130972826
|
|
|
NM_152564.5(VPS13B):c.11495+12G>C
|
|
|
|
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
|
|
|
|
NM_152564.5(VPS13B):c.11495+17A>G
|
rs2130972872
|
|
|
NM_152564.5(VPS13B):c.11495+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.11495+3_11495+34dup
|
rs2130972756
|
|
|
NM_152564.5(VPS13B):c.11495+8T>C
|
rs942243380
|
|
|
NM_152564.5(VPS13B):c.11495+9_11495+11del
|
rs1817372505
|
|
|
NM_152564.5(VPS13B):c.11496-10T>C
|
rs2130975170
|
|
|
NM_152564.5(VPS13B):c.11496-12C>T
|
|
|
|
NM_152564.5(VPS13B):c.11496-14C>T
|
rs2130975155
|
|
|
NM_152564.5(VPS13B):c.11496-15T>A
|
|
|
|
NM_152564.5(VPS13B):c.11496-17T>G
|
|
|
|
NM_152564.5(VPS13B):c.11496-19C>T
|
|
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
|
NM_152564.5(VPS13B):c.11496-3C>A
|
|
|
|
NM_152564.5(VPS13B):c.11496-6A>G
|
rs2130975190
|
|
|
NM_152564.5(VPS13B):c.11496-7dup
|
|
|
|
NM_152564.5(VPS13B):c.11496G>A (p.Trp3832Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11506_11507del (p.Gln3836fs)
|
|
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
|
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)
|
rs1588811810
|
|
|
NM_152564.5(VPS13B):c.11514G>T (p.Leu3838=)
|
rs2130975250
|
|
|
NM_152564.5(VPS13B):c.11517C>T (p.Gly3839=)
|
rs1001918842
|
|
|
NM_152564.5(VPS13B):c.11521C>A (p.Pro3841Thr)
|
rs1817411525
|
|
|
NM_152564.5(VPS13B):c.11522C>T (p.Pro3841Leu)
|
rs752395430
|
|
|
NM_152564.5(VPS13B):c.11523A>C (p.Pro3841=)
|
|
|
|
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs)
|
rs386834065
|
|
|
NM_152564.5(VPS13B):c.11524_11525del (p.Glu3842fs)
|
|
|
|
NM_152564.5(VPS13B):c.11526A>G (p.Glu3842=)
|
rs753590864
|
|
|
NM_152564.5(VPS13B):c.11527G>A (p.Val3843Ile)
|
rs943648620
|
|
|
NM_152564.5(VPS13B):c.11529C>T (p.Val3843=)
|
rs2130975340
|
|
|
NM_152564.5(VPS13B):c.11538C>T (p.Ala3846=)
|
|
|
|
NM_152564.5(VPS13B):c.11542G>A (p.Asp3848Asn)
|
rs558917637
|
|
|
NM_152564.5(VPS13B):c.11548G>T (p.Val3850Phe)
|
rs1817413381
|
|
|
NM_152564.5(VPS13B):c.11553G>A (p.Leu3851=)
|
|
|
|
NM_152564.5(VPS13B):c.11556G>A (p.Val3852=)
|
rs2130975423
|
|
|
NM_152564.5(VPS13B):c.11556G>T (p.Val3852=)
|
|
|
|
NM_152564.5(VPS13B):c.11571G>A (p.Gln3857=)
|
rs2130975458
|
|
|
NM_152564.5(VPS13B):c.11572G>A (p.Glu3858Lys)
|
rs910829293
|
|
|
NM_152564.5(VPS13B):c.11572G>C (p.Glu3858Gln)
|
rs910829293
|
|
|
NM_152564.5(VPS13B):c.11572_11574del (p.Glu3858del)
|
|
|
|
NM_152564.5(VPS13B):c.11574G>A (p.Glu3858=)
|
|
|
|
NM_152564.5(VPS13B):c.11575del (p.His3859fs)
|
rs1057516651
|
|
|
NM_152564.5(VPS13B):c.11580A>G (p.Glu3860=)
|
|
|
|
NM_152564.5(VPS13B):c.11583G>A (p.Gly3861=)
|
rs1458677528
|
|
|
NM_152564.5(VPS13B):c.11583G>T (p.Gly3861=)
|
|
|
|
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs)
|
rs1057517438
|
|
|
NM_152564.5(VPS13B):c.11586C>T (p.Cys3862=)
|
rs2130975528
|
|
|
NM_152564.5(VPS13B):c.11587T>C (p.Leu3863=)
|
|
|
|
NM_152564.5(VPS13B):c.11589G>A (p.Leu3863=)
|
rs1323646177
|
|
|
NM_152564.5(VPS13B):c.11599_11601dup (p.Ser3867_Glu3868insSer)
|
|
|
|
NM_152564.5(VPS13B):c.1159A>G (p.Ile387Val)
|
rs1170794758
|
|
|
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter)
|
rs1057517385
|
|
|
NM_152564.5(VPS13B):c.11600C>T (p.Ser3867Leu)
|
rs1057517385
|
|
|
NM_152564.5(VPS13B):c.11601A>C (p.Ser3867=)
|
|
|
|
NM_152564.5(VPS13B):c.11601A>G (p.Ser3867=)
|
rs2130975550
|
|
|
NM_152564.5(VPS13B):c.11602G>T (p.Glu3868Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11607G>A (p.Val3869=)
|
|
|
|
NM_152564.5(VPS13B):c.11608C>G (p.Leu3870Val)
|
rs2130975573
|
|
|
NM_152564.5(VPS13B):c.11614G>A (p.Val3872Met)
|
rs574447837
|
|
|
NM_152564.5(VPS13B):c.11617G>C (p.Val3873Leu)
|
rs2130975617
|
|
|
NM_152564.5(VPS13B):c.11619G>A (p.Val3873=)
|
rs113454700
|
|
|
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs)
|
rs1554588477
|
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
|
NM_152564.5(VPS13B):c.11625_11628del (p.Ser3876fs)
|
rs2130975687
|
|
|
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs)
|
rs1554588489
|
|
|
NM_152564.5(VPS13B):c.11631G>A (p.Glu3877=)
|
|
|
|
NM_152564.5(VPS13B):c.11634C>T (p.Asp3878=)
|
|
|
|
NM_152564.5(VPS13B):c.11637A>G (p.Thr3879=)
|
rs895169322
|
|
|
NM_152564.5(VPS13B):c.11638C>G (p.Gln3880Glu)
|
rs147315245
|
|
|
NM_152564.5(VPS13B):c.11638C>T (p.Gln3880Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11641C>T (p.Gln3881Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11644C>G (p.Gln3882Glu)
|
|
|
|
NM_152564.5(VPS13B):c.11652C>G (p.Phe3884Leu)
|
|
|
|
NM_152564.5(VPS13B):c.11655C>G (p.Pro3885=)
|
rs368092348
|
|
|
NM_152564.5(VPS13B):c.11655del (p.Val3886fs)
|
rs1212294259
|
|
|
NM_152564.5(VPS13B):c.11658C>T (p.Val3886=)
|
rs2130975807
|
|
|
NM_152564.5(VPS13B):c.11659A>G (p.Thr3887Ala)
|
|
|
|
NM_152564.5(VPS13B):c.11660C>T (p.Thr3887Ile)
|
rs1817419149
|
|
|
NM_152564.5(VPS13B):c.11666T>C (p.Ile3889Thr)
|
rs778142738
|
|
|
NM_152564.5(VPS13B):c.1166C>A (p.Ser389Tyr)
|
rs2132516597
|
|
|
NM_152564.5(VPS13B):c.11673T>C (p.Cys3891=)
|
rs2130975878
|
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
|
NM_152564.5(VPS13B):c.11674G>A (p.Ala3892Thr)
|
rs2130975882
|
|
|
NM_152564.5(VPS13B):c.11679G>A (p.Gln3893=)
|
rs779149986
|
|
|
NM_152564.5(VPS13B):c.11679G>C (p.Gln3893His)
|
rs779149986
|
|
|
NM_152564.5(VPS13B):c.1167T>C (p.Ser389=)
|
|
|
|
NM_152564.5(VPS13B):c.11686A>G (p.Lys3896Glu)
|
|
|
|
NM_152564.5(VPS13B):c.11691G>A (p.Gln3897=)
|
rs371985144
|
|
|
NM_152564.5(VPS13B):c.11692AAC[1] (p.Asn3899del)
|
rs1462286408
|
|
|
NM_152564.5(VPS13B):c.11702T>C (p.Leu3901Pro)
|
|
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys)
|
rs386834067
|
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
|
NM_152564.5(VPS13B):c.11707G>A (p.Val3903Met)
|
rs144797111
|
|
|
NM_152564.5(VPS13B):c.11709G>A (p.Val3903=)
|
rs1206063860
|
|
|
NM_152564.5(VPS13B):c.11711A>G (p.Gln3904Arg)
|
rs1484708441
|
|
|
NM_152564.5(VPS13B):c.11721G>A (p.Gln3907=)
|
rs2130976100
|
|
|
NM_152564.5(VPS13B):c.11723C>G (p.Pro3908Arg)
|
rs750156428
|
|
|
NM_152564.5(VPS13B):c.11725dup (p.Arg3909fs)
|
rs2130976122
|
|
|
NM_152564.5(VPS13B):c.11727_11728del (p.Arg3909fs)
|
rs2130976129
|
|
|
NM_152564.5(VPS13B):c.11730G>T (p.Val3910=)
|
|
|
|
NM_152564.5(VPS13B):c.11733C>T (p.Ala3911=)
|
|
|
|
NM_152564.5(VPS13B):c.11739T>C (p.Asp3913=)
|
rs1308209423
|
|
|
NM_152564.5(VPS13B):c.1173A>T (p.Gly391=)
|
rs1160712344
|
|
|
NM_152564.5(VPS13B):c.11742G>A (p.Val3914=)
|
rs1032955226
|
|
|
NM_152564.5(VPS13B):c.11743G>A (p.Glu3915Lys)
|
|
|
|
NM_152564.5(VPS13B):c.11745+10A>G
|
|
|
|
NM_152564.5(VPS13B):c.11745+13A>G
|
|
|
|
NM_152564.5(VPS13B):c.11745+15del
|
rs1450725730
|
|
|
NM_152564.5(VPS13B):c.11745+17A>T
|
|
|
|
NM_152564.5(VPS13B):c.11745+18G>A
|
|
|
|
NM_152564.5(VPS13B):c.11745+19G>A
|
|
|
|
NM_152564.5(VPS13B):c.11745+8T>C
|
rs2130976234
|
|
|
NM_152564.5(VPS13B):c.11745G>A (p.Glu3915=)
|
|
|
|
NM_152564.5(VPS13B):c.11746-10_11746-3dup
|
|
|
|
NM_152564.5(VPS13B):c.11746-10dup
|
|
|
|
NM_152564.5(VPS13B):c.11746-15_11746-11dup
|
|
|
|
NM_152564.5(VPS13B):c.11746-15_11746-12dup
|
|
|
|
NM_152564.5(VPS13B):c.11746-18_11746-15dup
|
|
|
|
NM_152564.5(VPS13B):c.11746-3T>C
|
|
|
|
NM_152564.5(VPS13B):c.11746-7A>C
|
rs1817651650
|
|
|
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs)
|
rs1554590314
|
|
|
NM_152564.5(VPS13B):c.11750A>T (p.Asp3917Val)
|
rs754404502
|
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
|
NM_152564.5(VPS13B):c.11753G>A (p.Gly3918Glu)
|
rs2130990090
|
|
|
NM_152564.5(VPS13B):c.11755G>A (p.Val3919Ile)
|
rs2130990099
|
|
|
NM_152564.5(VPS13B):c.11759G>C (p.Arg3920Pro)
|
rs147907236
|
|
|
NM_152564.5(VPS13B):c.11769G>A (p.Leu3923=)
|
|
|
|
NM_152564.5(VPS13B):c.11769G>C (p.Leu3923=)
|
|
|
|
NM_152564.5(VPS13B):c.11774_11775del (p.Glu3925fs)
|
rs755827237
|
|
|
NM_152564.5(VPS13B):c.11775G>A (p.Glu3925=)
|
|
|
|
NM_152564.5(VPS13B):c.11776C>T (p.Gln3926Ter)
|
|
|
|
NM_152564.5(VPS13B):c.11778A>G (p.Gln3926=)
|
|
|
|
NM_152564.5(VPS13B):c.11781G>C (p.Gln3927His)
|
rs1817654141
|
|
|
NM_152564.5(VPS13B):c.11783ACA[1] (p.Asn3929del)
|
rs1554590369
|
|
|
NM_152564.5(VPS13B):c.11787C>G (p.Asn3929Lys)
|
|
|
|
NM_152564.5(VPS13B):c.11790A>T (p.Arg3930Ser)
|
|
|
|
NM_152564.5(VPS13B):c.11793G>A (p.Leu3931=)
|
|
|
|
NM_152564.5(VPS13B):c.11794G>A (p.Val3932Met)
|
rs2130990241
|
|
|
NM_152564.5(VPS13B):c.117G>A (p.Lys39=)
|
|
|
|
NM_152564.5(VPS13B):c.11804_11808dup (p.Lys3937fs)
|
rs1263684271
|
|
|
NM_152564.5(VPS13B):c.11805C>T (p.Ile3935=)
|
|
|
|
NM_152564.5(VPS13B):c.11809A>G (p.Lys3937Glu)
|
|
|
|
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)
|
rs1371736348
|
|
|
NM_152564.5(VPS13B):c.11809_11812dup (p.Thr3938fs)
|
|
|
|
NM_152564.5(VPS13B):c.11810del (p.Lys3937fs)
|
rs1371736348
|
|
|
NM_152564.5(VPS13B):c.11813C>A (p.Thr3938Lys)
|
|
|
|
NM_152564.5(VPS13B):c.11814_11816del (p.Ser3939del)
|
rs1236948038
|
|
|
NM_152564.5(VPS13B):c.11814_11816dup (p.Ser3939dup)
|
rs1236948038
|
|
|
NM_152564.5(VPS13B):c.11815T>A (p.Ser3939Thr)
|
|
|
|
NM_152564.5(VPS13B):c.11815_11822del (p.Ser3939fs)
|
|
|
|
NM_152564.5(VPS13B):c.11823C>T (p.His3941=)
|
|
|
|
NM_152564.5(VPS13B):c.11829C>T (p.Ala3943=)
|
|
|
|
NM_152564.5(VPS13B):c.11831C>A (p.Pro3944His)
|
rs1010334738
|
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
|
NM_152564.5(VPS13B):c.11832del (p.Ser3945fs)
|
|
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
|
NM_152564.5(VPS13B):c.11834G>A (p.Ser3945Asn)
|
rs1209045692
|
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
|
NM_152564.5(VPS13B):c.11838TTC[1] (p.Ser3948del)
|
rs1554590420
|
|
|
NM_152564.5(VPS13B):c.11839_11842dup (p.Ser3948fs)
|
rs1817657601
|
|
|
NM_152564.5(VPS13B):c.11841T>G (p.Ser3947=)
|
rs1257015556
|
|
|
NM_152564.5(VPS13B):c.11845A>G (p.Met3949Val)
|
rs1227148786
|
|
|
NM_152564.5(VPS13B):c.11846_11875del (p.Met3949_Glu3959delinsLys)
|
|
|
|
NM_152564.5(VPS13B):c.11850A>C (p.Gln3950His)
|
|
|
|
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs)
|
rs1554590433
|
|
|
NM_152564.5(VPS13B):c.11855C>G (p.Pro3952Arg)
|
|
|
|
NM_152564.5(VPS13B):c.11857T>G (p.Cys3953Gly)
|
|
|
|
NM_152564.5(VPS13B):c.11858G>A (p.Cys3953Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.11859C>T (p.Cys3953=)
|
|
|
|
NM_152564.5(VPS13B):c.11860C>T (p.Pro3954Ser)
|
rs2130990501
|
|
|
NM_152564.5(VPS13B):c.11862T>A (p.Pro3954=)
|
|
|
|
NM_152564.5(VPS13B):c.11862T>G (p.Pro3954=)
|
|
|
|
NM_152564.5(VPS13B):c.11863G>A (p.Val3955Met)
|
|
|
|
NM_152564.5(VPS13B):c.11876A>T (p.Glu3959Val)
|
rs2130990524
|
|
|
NM_152564.5(VPS13B):c.1187del (p.Lys396fs)
|
rs1554625872
|
|
|
NM_152564.5(VPS13B):c.11880T>C (p.Pro3960=)
|
|
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
|
NM_152564.5(VPS13B):c.11881C>G (p.Pro3961Ala)
|
rs762256695
|
|
|
NM_152564.5(VPS13B):c.11881C>T (p.Pro3961Ser)
|
|
|
|
NM_152564.5(VPS13B):c.11882C>T (p.Pro3961Leu)
|
rs765761643
|
|
|
NM_152564.5(VPS13B):c.11885C>A (p.Pro3962His)
|
rs531619892
|
|
|
NM_152564.5(VPS13B):c.11886C>G (p.Pro3962=)
|
|
|
|
NM_152564.5(VPS13B):c.11886dup (p.Ser3963fs)
|
|
|
|
NM_152564.5(VPS13B):c.11889C>T (p.Ser3963=)
|
|
|
|
NM_152564.5(VPS13B):c.11892_11895dup (p.Lys3966delinsCysTer)
|
rs1554590486
|
|
|
NM_152564.5(VPS13B):c.11894_11895dup (p.Lys3966fs)
|
|
|
|
NM_152564.5(VPS13B):c.11895T>A (p.Val3965=)
|
rs1014579158
|
|
|
NM_152564.5(VPS13B):c.11895T>C (p.Val3965=)
|
rs1014579158
|
|
|
NM_152564.5(VPS13B):c.11898_11901dup (p.Tyr3968fs)
|
|
|
|
NM_152564.5(VPS13B):c.11899dup (p.Thr3967fs)
|
rs1554590501
|
|
|
NM_152564.5(VPS13B):c.1189G>T (p.Ala397Ser)
|
|
|
|
NM_152564.5(VPS13B):c.11901_11904dup (p.His3969fs)
|
rs1554590506
|
|
|
NM_152564.5(VPS13B):c.11906_11911dup (p.His3969_Tyr3970dup)
|
rs1554590515
|
|
|
NM_152564.5(VPS13B):c.11907_11908insG (p.Tyr3970fs)
|
rs1554590537
|
|
|
NM_152564.5(VPS13B):c.11911C>T (p.Leu3971=)
|
rs2130990707
|
|
|
NM_152564.5(VPS13B):c.11912T>C (p.Leu3971Pro)
|
rs2130990713
|
|
|
NM_152564.5(VPS13B):c.11917_11919dup (p.Asp3973dup)
|
rs1554590552
|
|
|
NM_152564.5(VPS13B):c.11929G>A (p.Ala3977Thr)
|
rs2130990784
|
|
|
NM_152564.5(VPS13B):c.11929G>T (p.Ala3977Ser)
|
rs2130990784
|
|
|
NM_152564.5(VPS13B):c.11932C>T (p.Gln3978Ter)
|
rs2130990800
|
|
|
NM_152564.5(VPS13B):c.11934G>C (p.Gln3978His)
|
rs1012733827
|
|
|
NM_152564.5(VPS13B):c.11938T>G (p.Phe3980Val)
|
|
|
|
NM_152564.5(VPS13B):c.11941C>T (p.Leu3981Phe)
|
|
|
|
NM_152564.5(VPS13B):c.11944A>C (p.Ser3982Arg)
|
|
|
|
NM_152564.5(VPS13B):c.11945G>A (p.Ser3982Asn)
|
rs1370500777
|
|
|
NM_152564.5(VPS13B):c.11947A>G (p.Lys3983Glu)
|
|
|
|
NM_152564.5(VPS13B):c.1194G>A (p.Thr398=)
|
|
|
|
NM_152564.5(VPS13B):c.11955C>T (p.Thr3985=)
|
|
|
|
NM_152564.5(VPS13B):c.11956del (p.Met3986fs)
|
|
|
|
NM_152564.5(VPS13B):c.11957T>A (p.Met3986Lys)
|
|
|
|
NM_152564.5(VPS13B):c.11958G>A (p.Met3986Ile)
|
rs774937754
|
|
|
NM_152564.5(VPS13B):c.11959G>C (p.Val3987Leu)
|
rs760214378
|
|
|
NM_152564.5(VPS13B):c.11964_11984dup (p.Asn3989_Gly3995dup)
|
rs1554590631
|
|
|
NM_152564.5(VPS13B):c.11965_11966dup (p.Asn3989fs)
|
rs1554590620
|
|
|
NM_152564.5(VPS13B):c.11967_11968dup (p.Lys3990fs)
|
rs1554590636
|
|
|
NM_152564.5(VPS13B):c.11967_11969dup (p.Asn3989_Lys3990insAsn)
|
|
|
|
NM_152564.5(VPS13B):c.11967_11970del (p.Asn3989fs)
|
|
|
|
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter)
|
rs769983613
|
|
|
NM_152564.5(VPS13B):c.11970dup (p.Ala3991fs)
|
|
|
|
NM_152564.5(VPS13B):c.11976G>A (p.Leu3992=)
|
rs2130990950
|
|
|
NM_152564.5(VPS13B):c.11979G>A (p.Arg3993=)
|
|
|
|
NM_152564.5(VPS13B):c.11982A>G (p.Lys3994=)
|
|
|
|
NM_152564.5(VPS13B):c.11983G>A (p.Gly3995Arg)
|
|
|
|
NM_152564.5(VPS13B):c.11985G>T (p.Gly3995=)
|
|
|
|
NM_152564.5(VPS13B):c.1198A>G (p.Thr400Ala)
|
|
|
|
NM_152564.5(VPS13B):c.11991T>C (p.Pro3997=)
|
|
|
|
NM_152564.5(VPS13B):c.11993_*2dup (p.Ter3998=)
|
rs764705493
|
|
|
NM_152564.5(VPS13B):c.11994A>C (p.Ter3998Cys)
|
|
|
|
NM_152564.5(VPS13B):c.1203C>T (p.Phe401=)
|
|
|
|
NM_152564.5(VPS13B):c.1206+11T>G
|
|
|
|
NM_152564.5(VPS13B):c.1206+12C>T
|
|
|
|
NM_152564.5(VPS13B):c.1206+17G>A
|
|
|
|
NM_152564.5(VPS13B):c.1206+19_1206+34del
|
rs750619814
|
|
|
NM_152564.5(VPS13B):c.1206+20G>A
|
rs2132516774
|
|
|
NM_152564.5(VPS13B):c.1206+20G>T
|
|
|
|
NM_152564.5(VPS13B):c.1206+40T>C
|
rs1554625938
|
|
|
NM_152564.5(VPS13B):c.1206+7C>G
|
|
|
|
NM_152564.5(VPS13B):c.1206+8T>G
|
rs889247005
|
|
|
NM_152564.5(VPS13B):c.1207-10T>A
|
rs1293563176
|
|
|
NM_152564.5(VPS13B):c.1207-15T>G
|
|
|
|
NM_152564.5(VPS13B):c.1207-19A>G
|
|
|
|
NM_152564.5(VPS13B):c.1207-5del
|
rs2132553921
|
|
|
NM_152564.5(VPS13B):c.1207-9A>G
|
rs2132553905
|
|
|
NM_152564.5(VPS13B):c.120C>A (p.Leu40=)
|
rs1217032484
|
|
|
NM_152564.5(VPS13B):c.120C>G (p.Leu40=)
|
|
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
|
NM_152564.5(VPS13B):c.121G>C (p.Glu41Gln)
|
|
|
|
NM_152564.5(VPS13B):c.1221A>T (p.Gln407His)
|
rs1269344604
|
|
|
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter)
|
rs386834071
|
|
|
NM_152564.5(VPS13B):c.1227G>A (p.Glu409=)
|
|
|
|
NM_152564.5(VPS13B):c.1234T>A (p.Tyr412Asn)
|
rs1809977101
|
|
|
NM_152564.5(VPS13B):c.1236T>C (p.Tyr412=)
|
rs1355692148
|
|
|
NM_152564.5(VPS13B):c.123G>A (p.Glu41=)
|
|
|
|
NM_152564.5(VPS13B):c.1244C>T (p.Pro415Leu)
|
|
|
|
NM_152564.5(VPS13B):c.1245A>G (p.Pro415=)
|
rs2132554032
|
|
|
NM_152564.5(VPS13B):c.1246C>T (p.Gln416Ter)
|
rs1809977682
|
|
|
NM_152564.5(VPS13B):c.1248G>A (p.Gln416=)
|
|
|
|
NM_152564.5(VPS13B):c.1260T>C (p.Ser420=)
|
|
|
|
NM_152564.5(VPS13B):c.1260T>G (p.Ser420=)
|
rs1809978399
|
|
|
NM_152564.5(VPS13B):c.1261A>T (p.Lys421Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del)
|
rs1554633843
|
|
|
NM_152564.5(VPS13B):c.1264G>T (p.Glu422Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1269A>G (p.Val423=)
|
|
|
|
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs)
|
rs386834072
|
|
|
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1277G>A (p.Trp426Ter)
|
|
|
|
NM_152564.5(VPS13B):c.127A>C (p.Lys43Gln)
|
|
|
|
NM_152564.5(VPS13B):c.1281A>G (p.Glu427=)
|
rs370660111
|
|
|
NM_152564.5(VPS13B):c.1291A>G (p.Thr431Ala)
|
|
|
|
NM_152564.5(VPS13B):c.1293T>A (p.Thr431=)
|
rs77759532
|
|
|
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=)
|
rs77759532
|
|
|
NM_152564.5(VPS13B):c.1294A>G (p.Thr432Ala)
|
rs1809982356
|
|
|
NM_152564.5(VPS13B):c.1302+10C>T
|
|
|
|
NM_152564.5(VPS13B):c.1302+11A>T
|
|
|
|
NM_152564.5(VPS13B):c.1302+17G>A
|
|
|
|
NM_152564.5(VPS13B):c.1302+19A>T
|
|
|
|
NM_152564.5(VPS13B):c.1302+6C>G
|
|
|
|
NM_152564.5(VPS13B):c.1303-19G>A
|
|
|
|
NM_152564.5(VPS13B):c.1303-19G>T
|
|
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
|
NM_152564.5(VPS13B):c.1303-20T>C
|
|
|
|
NM_152564.5(VPS13B):c.1303-3T>C
|
rs1464515241
|
|
|
NM_152564.5(VPS13B):c.1303-4A>T
|
|
|
|
NM_152564.5(VPS13B):c.1303-9G>C
|
rs370251445
|
|
|
NM_152564.5(VPS13B):c.1305C>A (p.Ala435=)
|
|
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
|
NM_152564.5(VPS13B):c.1309A>G (p.Met437Val)
|
|
|
|
NM_152564.5(VPS13B):c.1310T>C (p.Met437Thr)
|
|
|
|
NM_152564.5(VPS13B):c.1318G>A (p.Glu440Lys)
|
rs1320106244
|
|
|
NM_152564.5(VPS13B):c.1318G>T (p.Glu440Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1321C>T (p.Pro441Ser)
|
rs1563560482
|
|
|
NM_152564.5(VPS13B):c.1323T>C (p.Pro441=)
|
rs2132555095
|
|
|
NM_152564.5(VPS13B):c.1324T>G (p.Phe442Val)
|
|
|
|
NM_152564.5(VPS13B):c.1334_1335delinsTT (p.Cys445Phe)
|
rs1563560499
|
|
|
NM_152564.5(VPS13B):c.1335C>T (p.Cys445=)
|
|
|
|
NM_152564.5(VPS13B):c.133G>A (p.Asp45Asn)
|
rs761491720
|
|
|
NM_152564.5(VPS13B):c.133G>T (p.Asp45Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.1343G>A (p.Gly448Glu)
|
|
|
|
NM_152564.5(VPS13B):c.1347T>C (p.Phe449=)
|
rs2132555166
|
|
|
NM_152564.5(VPS13B):c.1366del (p.Cys456fs)
|
rs2132555225
|
|
|
NM_152564.5(VPS13B):c.1368C>T (p.Cys456=)
|
rs2132555233
|
|
|
NM_152564.5(VPS13B):c.1371T>G (p.Leu457=)
|
rs1810005490
|
|
|
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu)
|
rs1810005848
|
|
|
NM_152564.5(VPS13B):c.1378del (p.Ile460fs)
|
rs1810006084
|
|
|
NM_152564.5(VPS13B):c.1386T>C (p.Gly462=)
|
|
|
|
NM_152564.5(VPS13B):c.138G>A (p.Val46=)
|
rs1841451847
|
|
|
NM_152564.5(VPS13B):c.1396T>C (p.Phe466Leu)
|
rs2132555298
|
|
|
NM_152564.5(VPS13B):c.139C>T (p.Leu47=)
|
rs2132125682
|
|
|
NM_152564.5(VPS13B):c.1406A>G (p.Asn469Ser)
|
rs1810007051
|
|
|
NM_152564.5(VPS13B):c.1406del (p.Asn469fs)
|
|
|
|
NM_152564.5(VPS13B):c.1412A>G (p.Asn471Ser)
|
|
|
|
NM_152564.5(VPS13B):c.1418del (p.Ser473fs)
|
|
|
|
NM_152564.5(VPS13B):c.141G>C (p.Leu47=)
|
rs1841451940
|
|
|
NM_152564.5(VPS13B):c.1424C>T (p.Thr475Ile)
|
rs765774825
|
|
|
NM_152564.5(VPS13B):c.1425+17C>T
|
|
|
|
NM_152564.5(VPS13B):c.1425+18A>G
|
|
|
|
NM_152564.5(VPS13B):c.1425+7C>G
|
|
|
|
NM_152564.5(VPS13B):c.1425+9G>T
|
rs551460373
|
|
|
NM_152564.5(VPS13B):c.1426-12A>T
|
|
|
|
NM_152564.5(VPS13B):c.1426-14G>A
|
|
|
|
NM_152564.5(VPS13B):c.1426-8del
|
rs2132556521
|
|
|
NM_152564.5(VPS13B):c.142G>T (p.Glu48Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1431C>G (p.Ala477=)
|
|
|
|
NM_152564.5(VPS13B):c.1436dup (p.Phe480fs)
|
|
|
|
NM_152564.5(VPS13B):c.1440C>A (p.Phe480Leu)
|
|
|
|
NM_152564.5(VPS13B):c.1442T>C (p.Ile481Thr)
|
|
|
|
NM_152564.5(VPS13B):c.1449T>C (p.Gly483=)
|
rs2132556560
|
|
|
NM_152564.5(VPS13B):c.1452C>T (p.Asp484=)
|
rs2132556577
|
|
|
NM_152564.5(VPS13B):c.1456T>C (p.Leu486=)
|
rs879308072
|
|
|
NM_152564.5(VPS13B):c.145C>T (p.Gln49Ter)
|
rs2132125704
|
|
|
NM_152564.5(VPS13B):c.1469G>A (p.Gly490Asp)
|
rs761218548
|
|
|
NM_152564.5(VPS13B):c.1469G>C (p.Gly490Ala)
|
rs761218548
|
|
|
NM_152564.5(VPS13B):c.147+13_147+22del
|
|
|
|
NM_152564.5(VPS13B):c.147+18C>A
|
|
|
|
NM_152564.5(VPS13B):c.147+19A>C
|
|
|
|
NM_152564.5(VPS13B):c.147+19_147+20del
|
|
|
|
NM_152564.5(VPS13B):c.147+8_147+15del
|
rs1587912564
|
|
|
NM_152564.5(VPS13B):c.1470T>A (p.Gly490=)
|
rs2132556626
|
|
|
NM_152564.5(VPS13B):c.1479C>A (p.Tyr493Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1479C>T (p.Tyr493=)
|
rs751986362
|
|
|
NM_152564.5(VPS13B):c.148-10G>T
|
|
|
|
NM_152564.5(VPS13B):c.148-11del
|
|
|
|
NM_152564.5(VPS13B):c.148-17A>G
|
rs2132221851
|
|
|
NM_152564.5(VPS13B):c.148-2A>G
|
rs768406797
|
|
|
NM_152564.5(VPS13B):c.148-5T>C
|
|
|
|
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)
|
rs2132556658
|
|
|
NM_152564.5(VPS13B):c.1483dup (p.Thr495fs)
|
|
|
|
NM_152564.5(VPS13B):c.1484C>A (p.Thr495Lys)
|
|
|
|
NM_152564.5(VPS13B):c.1491A>C (p.Ser497=)
|
rs374276141
|
|
|
NM_152564.5(VPS13B):c.1491A>G (p.Ser497=)
|
rs374276141
|
|
|
NM_152564.5(VPS13B):c.1492T>C (p.Leu498=)
|
|
|
|
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs)
|
rs1057517319
|
|
|
NM_152564.5(VPS13B):c.150A>G (p.Glu50=)
|
rs2132221924
|
|
|
NM_152564.5(VPS13B):c.1516A>T (p.Asn506Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.1527T>C (p.Thr509=)
|
rs778708757
|
|
|
NM_152564.5(VPS13B):c.1527del (p.Arg510fs)
|
rs2132556766
|
|
|
NM_152564.5(VPS13B):c.1528C>A (p.Arg510Ser)
|
rs139141291
|
|
|
NM_152564.5(VPS13B):c.1528C>G (p.Arg510Gly)
|
rs139141291
|
|
|
NM_152564.5(VPS13B):c.1533A>G (p.Ala511=)
|
rs2132556812
|
|
|
NM_152564.5(VPS13B):c.154A>T (p.Lys52Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1554T>C (p.Thr518=)
|
|
|
|
NM_152564.5(VPS13B):c.1554T>G (p.Thr518=)
|
|
|
|
NM_152564.5(VPS13B):c.1563+10T>A
|
|
|
|
NM_152564.5(VPS13B):c.1563+13A>G
|
|
|
|
NM_152564.5(VPS13B):c.1563+14T>A
|
|
|
|
NM_152564.5(VPS13B):c.1563+14T>C
|
|
|
|
NM_152564.5(VPS13B):c.1563+15A>G
|
|
|
|
NM_152564.5(VPS13B):c.1563+1G>A
|
rs1057516923
|
|
|
NM_152564.5(VPS13B):c.1563+1G>T
|
rs1057516923
|
|
|
NM_152564.5(VPS13B):c.1563+9A>T
|
|
|
|
NM_152564.5(VPS13B):c.1563+9del
|
|
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
|
NM_152564.5(VPS13B):c.1564-4G>A
|
|
|
|
NM_152564.5(VPS13B):c.1564-5G>T
|
rs2132559204
|
|
|
NM_152564.5(VPS13B):c.1564-6T>C
|
rs2132559193
|
|
|
NM_152564.5(VPS13B):c.1564-7T>C
|
|
|
|
NM_152564.5(VPS13B):c.1564-8G>T
|
rs2132559174
|
|
|
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1569A>G (p.Thr523=)
|
rs797046094
|
|
|
NM_152564.5(VPS13B):c.1572C>T (p.Tyr524=)
|
rs2132559241
|
|
|
NM_152564.5(VPS13B):c.1574C>G (p.Thr525Ser)
|
rs2132559245
|
|
|
NM_152564.5(VPS13B):c.1575T>C (p.Thr525=)
|
rs1810085883
|
|
|
NM_152564.5(VPS13B):c.1580T>C (p.Ile527Thr)
|
rs1810086193
|
|
|
NM_152564.5(VPS13B):c.1580T>G (p.Ile527Arg)
|
rs1810086193
|
|
|
NM_152564.5(VPS13B):c.1584T>C (p.Ala528=)
|
rs2132559289
|
|
|
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu)
|
|
|
|
NM_152564.5(VPS13B):c.1596G>T (p.Arg532=)
|
|
|
|
NM_152564.5(VPS13B):c.1602G>A (p.Gly534=)
|
rs1266552493
|
|
|
NM_152564.5(VPS13B):c.1604del (p.Ala535fs)
|
rs1810088202
|
|
|
NM_152564.5(VPS13B):c.160C>T (p.Pro54Ser)
|
rs1193369148
|
|
|
NM_152564.5(VPS13B):c.161C>T (p.Pro54Leu)
|
rs1253965070
|
|
|
NM_152564.5(VPS13B):c.1623G>A (p.Leu541=)
|
rs1193051483
|
|
|
NM_152564.5(VPS13B):c.1626T>C (p.Tyr542=)
|
|
|
|
NM_152564.5(VPS13B):c.1628C>A (p.Thr543Lys)
|
|
|
|
NM_152564.5(VPS13B):c.1639A>T (p.Thr547Ser)
|
rs142971568
|
|
|
NM_152564.5(VPS13B):c.163_166del (p.Phe55fs)
|
|
|
|
NM_152564.5(VPS13B):c.1646G>T (p.Gly549Val)
|
|
|
|
NM_152564.5(VPS13B):c.1651+14T>C
|
|
|
|
NM_152564.5(VPS13B):c.1651+3A>G
|
|
|
|
NM_152564.5(VPS13B):c.1651+5del
|
rs779435450
|
|
|
NM_152564.5(VPS13B):c.1651+8C>T
|
rs2132559576
|
|
|
NM_152564.5(VPS13B):c.1651+9T>A
|
rs2132559589
|
|
|
NM_152564.5(VPS13B):c.1651G>A (p.Gly551Ser)
|
rs1346704740
|
|
|
NM_152564.5(VPS13B):c.1651G>T (p.Gly551Cys)
|
rs1346704740
|
|
|
NM_152564.5(VPS13B):c.1652-12G>C
|
|
|
|
NM_152564.5(VPS13B):c.1652-19A>G
|
|
|
|
NM_152564.5(VPS13B):c.1652-2A>T
|
rs2132580903
|
|
|
NM_152564.5(VPS13B):c.1652-5T>G
|
|
|
|
NM_152564.5(VPS13B):c.1652-7C>A
|
rs2132580880
|
|
|
NM_152564.5(VPS13B):c.1652-7del
|
rs757852076
|
|
|
NM_152564.5(VPS13B):c.1652-8T>G
|
rs2132580871
|
|
|
NM_152564.5(VPS13B):c.1653T>C (p.Gly551=)
|
|
|
|
NM_152564.5(VPS13B):c.1656C>A (p.Ser552=)
|
rs766281883
|
|
|
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala)
|
rs2132580942
|
|
|
NM_152564.5(VPS13B):c.1659A>T (p.Thr553=)
|
|
|
|
NM_152564.5(VPS13B):c.1662T>C (p.Asn554=)
|
|
|
|
NM_152564.5(VPS13B):c.1664A>C (p.Gln555Pro)
|
rs2132580980
|
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
|
NM_152564.5(VPS13B):c.1665A>G (p.Gln555=)
|
rs1459744373
|
|
|
NM_152564.5(VPS13B):c.1666C>G (p.Gln556Glu)
|
rs1554639027
|
|
|
NM_152564.5(VPS13B):c.1669del (p.Asp557fs)
|
rs1057517283
|
|
|
NM_152564.5(VPS13B):c.1680A>G (p.Ser560=)
|
|
|
|
NM_152564.5(VPS13B):c.1701A>G (p.Gly567=)
|
|
|
|
NM_152564.5(VPS13B):c.1704A>T (p.Thr568=)
|
rs190009435
|
|
|
NM_152564.5(VPS13B):c.1711_1713del (p.Glu571del)
|
|
|
|
NM_152564.5(VPS13B):c.1712A>G (p.Glu571Gly)
|
|
|
|
NM_152564.5(VPS13B):c.1713G>A (p.Glu571=)
|
rs753346782
|
|
|
NM_152564.5(VPS13B):c.171T>C (p.Phe57=)
|
rs2132221990
|
|
|
NM_152564.5(VPS13B):c.1721C>G (p.Thr574Ser)
|
rs2132581141
|
|
|
NM_152564.5(VPS13B):c.1721C>T (p.Thr574Ile)
|
|
|
|
NM_152564.5(VPS13B):c.1726A>G (p.Ser576Gly)
|
rs2132581169
|
|
|
NM_152564.5(VPS13B):c.1727G>C (p.Ser576Thr)
|
rs2132581178
|
|
|
NM_152564.5(VPS13B):c.1732del (p.Val578fs)
|
rs2132581182
|
|
|
NM_152564.5(VPS13B):c.1739G>A (p.Gly580Asp)
|
|
|
|
NM_152564.5(VPS13B):c.173T>C (p.Leu58Ser)
|
rs2132221998
|
|
|
NM_152564.5(VPS13B):c.174A>T (p.Leu58Phe)
|
rs2132222005
|
|
|
NM_152564.5(VPS13B):c.1752T>C (p.Phe584=)
|
|
|
|
NM_152564.5(VPS13B):c.1755T>C (p.Arg585=)
|
rs762989966
|
|
|
NM_152564.5(VPS13B):c.1755_1759dup (p.Asp587fs)
|
rs1810518393
|
|
|
NM_152564.5(VPS13B):c.1757T>A (p.Leu586Ter)
|
rs2132581276
|
|
|
NM_152564.5(VPS13B):c.1761T>C (p.Asp587=)
|
|
|
|
NM_152564.5(VPS13B):c.1762del (p.Ser588fs)
|
rs2132581325
|
|
|
NM_152564.5(VPS13B):c.1764C>T (p.Ser588=)
|
rs2132581334
|
|
|
NM_152564.5(VPS13B):c.1769C>A (p.Ala590Glu)
|
rs182397346
|
|
|
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val)
|
rs182397346
|
|
|
NM_152564.5(VPS13B):c.1771G>C (p.Val591Leu)
|
|
|
|
NM_152564.5(VPS13B):c.1773G>A (p.Val591=)
|
|
|
|
NM_152564.5(VPS13B):c.1774C>T (p.His592Tyr)
|
rs1588083628
|
|
|
NM_152564.5(VPS13B):c.178G>T (p.Gly60Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1814A>C (p.Glu605Ala)
|
rs2132581468
|
|
|
NM_152564.5(VPS13B):c.1819G>T (p.Glu607Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1823C>T (p.Pro608Leu)
|
rs2132581494
|
|
|
NM_152564.5(VPS13B):c.1826A>T (p.Tyr609Phe)
|
|
|
|
NM_152564.5(VPS13B):c.1830C>T (p.Ser610=)
|
|
|
|
NM_152564.5(VPS13B):c.1831A>C (p.Arg611=)
|
rs2132581522
|
|
|
NM_152564.5(VPS13B):c.1843+10T>G
|
rs371154826
|
|
|
NM_152564.5(VPS13B):c.1843+13A>G
|
|
|
|
NM_152564.5(VPS13B):c.1843+17A>G
|
|
|
|
NM_152564.5(VPS13B):c.1843+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.1843G>T (p.Asp615Tyr)
|
rs1810522684
|
|
|
NM_152564.5(VPS13B):c.1844-11T>C
|
|
|
|
NM_152564.5(VPS13B):c.1844-12T>A
|
|
|
|
NM_152564.5(VPS13B):c.1844-14C>G
|
rs756456382
|
|
|
NM_152564.5(VPS13B):c.1844-14C>T
|
|
|
|
NM_152564.5(VPS13B):c.1844-15T>A
|
|
|
|
NM_152564.5(VPS13B):c.1844-16A>G
|
|
|
|
NM_152564.5(VPS13B):c.1844-18T>C
|
|
|
|
NM_152564.5(VPS13B):c.1844-2A>G
|
rs386834073
|
|
|
NM_152564.5(VPS13B):c.1844-6T>G
|
|
|
|
NM_152564.5(VPS13B):c.1844-8A>C
|
rs2132596591
|
|
|
NM_152564.5(VPS13B):c.1844-8_1844-4del
|
rs745701200
|
|
|
NM_152564.5(VPS13B):c.1845T>C (p.Asp615=)
|
|
|
|
NM_152564.5(VPS13B):c.1849A>G (p.Lys617Glu)
|
rs1810824609
|
|
|
NM_152564.5(VPS13B):c.1854T>A (p.Asp618Glu)
|
|
|
|
NM_152564.5(VPS13B):c.1869A>G (p.Ile623Met)
|
rs1432601796
|
|
|
NM_152564.5(VPS13B):c.1869A>T (p.Ile623=)
|
rs1432601796
|
|
|
NM_152564.5(VPS13B):c.186T>C (p.Ile62=)
|
|
|
|
NM_152564.5(VPS13B):c.186T>G (p.Ile62Met)
|
rs2132222016
|
|
|
NM_152564.5(VPS13B):c.1871T>G (p.Leu624Arg)
|
|
|
|
NM_152564.5(VPS13B):c.1875T>C (p.Asn625=)
|
|
|
|
NM_152564.5(VPS13B):c.1876C>A (p.Pro626Thr)
|
rs1027919525
|
|
|
NM_152564.5(VPS13B):c.1885G>C (p.Val629Leu)
|
|
|
|
NM_152564.5(VPS13B):c.1887G>C (p.Val629=)
|
rs138291421
|
|
|
NM_152564.5(VPS13B):c.1890T>C (p.Ala630=)
|
|
|
|
NM_152564.5(VPS13B):c.1891C>A (p.Leu631Ile)
|
|
|
|
NM_152564.5(VPS13B):c.1894C>G (p.Leu632Val)
|
|
|
|
NM_152564.5(VPS13B):c.18A>C (p.Val6=)
|
rs1490457051
|
|
|
NM_152564.5(VPS13B):c.18A>G (p.Val6=)
|
rs1490457051
|
|
|
NM_152564.5(VPS13B):c.18A>T (p.Val6=)
|
|
|
|
NM_152564.5(VPS13B):c.1906A>G (p.Ile636Val)
|
rs2132596795
|
|
|
NM_152564.5(VPS13B):c.1911T>C (p.Pro637=)
|
|
|
|
NM_152564.5(VPS13B):c.1916G>A (p.Arg639Gln)
|
rs772958839
|
|
|
NM_152564.5(VPS13B):c.192A>G (p.Glu64=)
|
|
|
|
NM_152564.5(VPS13B):c.1932T>G (p.Thr644=)
|
|
|
|
NM_152564.5(VPS13B):c.1934T>A (p.Leu645His)
|
|
|
|
NM_152564.5(VPS13B):c.1935C>T (p.Leu645=)
|
|
|
|
NM_152564.5(VPS13B):c.1938C>T (p.Leu646=)
|
rs2132596935
|
|
|
NM_152564.5(VPS13B):c.193T>C (p.Leu65=)
|
rs2132222030
|
|
|
NM_152564.5(VPS13B):c.1943G>A (p.Cys648Tyr)
|
rs960819243
|
|
|
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
|
|
|
|
NM_152564.5(VPS13B):c.1944T>C (p.Cys648=)
|
rs988245745
|
|
|
NM_152564.5(VPS13B):c.1947C>G (p.Thr649=)
|
|
|
|
NM_152564.5(VPS13B):c.1953A>T (p.Thr651=)
|
rs756544361
|
|
|
NM_152564.5(VPS13B):c.1954A>G (p.Ile652Val)
|
rs886062537
|
|
|
NM_152564.5(VPS13B):c.1959C>G (p.Ser653=)
|
rs2132597068
|
|
|
NM_152564.5(VPS13B):c.1969T>C (p.Phe657Leu)
|
|
|
|
NM_152564.5(VPS13B):c.1972A>T (p.Asn658Tyr)
|
rs2132597122
|
|
|
NM_152564.5(VPS13B):c.1974C>T (p.Asn658=)
|
rs1810832465
|
|
|
NM_152564.5(VPS13B):c.1975T>C (p.Leu659=)
|
rs754099212
|
|
|
NM_152564.5(VPS13B):c.1978C>T (p.Leu660=)
|
|
|
|
NM_152564.5(VPS13B):c.1989A>G (p.Leu663=)
|
|
|
|
NM_152564.5(VPS13B):c.1990C>T (p.Leu664=)
|
|
|
|
NM_152564.5(VPS13B):c.1992A>C (p.Leu664=)
|
rs758566685
|
|
|
NM_152564.5(VPS13B):c.1995T>C (p.Pro665=)
|
|
|
|
NM_152564.5(VPS13B):c.1996_2006del (p.Val666fs)
|
|
|
|
NM_152564.5(VPS13B):c.1A>T (p.Met1Leu)
|
|
|
|
NM_152564.5(VPS13B):c.2001T>A (p.Ile667=)
|
rs747119024
|
|
|
NM_152564.5(VPS13B):c.2004G>A (p.Met668Ile)
|
|
|
|
NM_152564.5(VPS13B):c.2007A>C (p.Gly669=)
|
|
|
|
NM_152564.5(VPS13B):c.2007A>T (p.Gly669=)
|
rs1242797162
|
|
|
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs)
|
rs1057517338
|
|
|
NM_152564.5(VPS13B):c.2012A>G (p.Lys671Arg)
|
rs2132597258
|
|
|
NM_152564.5(VPS13B):c.2012_2013dup (p.Asn672fs)
|
|
|
|
NM_152564.5(VPS13B):c.2013+15T>C
|
|
|
|
NM_152564.5(VPS13B):c.2013+19T>C
|
|
|
|
NM_152564.5(VPS13B):c.2013+2341_2166del
|
|
|
|
NM_152564.5(VPS13B):c.2013+3A>G
|
|
|
|
NM_152564.5(VPS13B):c.2013+4T>C
|
|
|
|
NM_152564.5(VPS13B):c.2013+9del
|
rs2132597306
|
|
|
NM_152564.5(VPS13B):c.2013G>A (p.Lys671=)
|
|
|
|
NM_152564.5(VPS13B):c.2014-15A>G
|
rs1811373750
|
|
|
NM_152564.5(VPS13B):c.2014-2A>G
|
rs1588095580
|
|
|
NM_152564.5(VPS13B):c.2014-7T>A
|
|
|
|
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter)
|
rs1554645551
|
|
|
NM_152564.5(VPS13B):c.2019A>C (p.Ser673=)
|
|
|
|
NM_152564.5(VPS13B):c.2020A>G (p.Ser674Gly)
|
|
|
|
NM_152564.5(VPS13B):c.2032A>G (p.Asn678Asp)
|
rs2132624177
|
|
|
NM_152564.5(VPS13B):c.2033A>G (p.Asn678Ser)
|
rs751669595
|
|
|
NM_152564.5(VPS13B):c.2034T>C (p.Asn678=)
|
rs2132624190
|
|
|
NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del)
|
rs1554645561
|
|
|
NM_152564.5(VPS13B):c.2035A>G (p.Thr679Ala)
|
rs755151137
|
|
|
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)
|
rs386834074
|
|
|
NM_152564.5(VPS13B):c.2048A>G (p.Gln683Arg)
|
rs372585253
|
|
|
NM_152564.5(VPS13B):c.2048A>T (p.Gln683Leu)
|
rs372585253
|
|
|
NM_152564.5(VPS13B):c.204T>C (p.His68=)
|
|
|
|
NM_152564.5(VPS13B):c.2058G>T (p.Arg686=)
|
rs1811377192
|
|
|
NM_152564.5(VPS13B):c.2073T>C (p.Ile691=)
|
|
|
|
NM_152564.5(VPS13B):c.2074C>A (p.Arg692=)
|
|
|
|
NM_152564.5(VPS13B):c.2078T>C (p.Ile693Thr)
|
|
|
|
NM_152564.5(VPS13B):c.207A>G (p.Val69=)
|
|
|
|
NM_152564.5(VPS13B):c.2081TGG[1] (p.Val695del)
|
rs765610228
|
|
|
NM_152564.5(VPS13B):c.2083G>A (p.Val695Met)
|
rs763463283
|
|
|
NM_152564.5(VPS13B):c.2089A>G (p.Lys697Glu)
|
rs1563573152
|
|
|
NM_152564.5(VPS13B):c.2091A>T (p.Lys697Asn)
|
rs376694328
|
|
|
NM_152564.5(VPS13B):c.2098C>G (p.Leu700Val)
|
rs2132624430
|
|
|
NM_152564.5(VPS13B):c.2100G>T (p.Leu700=)
|
|
|
|
NM_152564.5(VPS13B):c.2103A>G (p.Glu701=)
|
|
|
|
NM_152564.5(VPS13B):c.2107dup (p.Ser703fs)
|
rs1811379645
|
|
|
NM_152564.5(VPS13B):c.210A>C (p.Pro70=)
|
|
|
|
NM_152564.5(VPS13B):c.210A>G (p.Pro70=)
|
|
|
|
NM_152564.5(VPS13B):c.2116A>T (p.Met706Leu)
|
|
|
|
NM_152564.5(VPS13B):c.2117T>C (p.Met706Thr)
|
rs2132624500
|
|
|
NM_152564.5(VPS13B):c.211T>C (p.Trp71Arg)
|
rs886062534
|
|
|
NM_152564.5(VPS13B):c.2127A>G (p.Glu709=)
|
rs1388916447
|
|
|
NM_152564.5(VPS13B):c.2139T>A (p.His713Gln)
|
rs1811381345
|
|
|
NM_152564.5(VPS13B):c.2142G>C (p.Val714=)
|
|
|
|
NM_152564.5(VPS13B):c.2146A>C (p.Ser716Arg)
|
|
|
|
NM_152564.5(VPS13B):c.2148C>T (p.Ser716=)
|
rs2132624558
|
|
|
NM_152564.5(VPS13B):c.2149A>G (p.Ser717Gly)
|
rs2132624568
|
|
|
NM_152564.5(VPS13B):c.2157T>C (p.Thr719=)
|
|
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
|
NM_152564.5(VPS13B):c.2172C>T (p.Asn724=)
|
|
|
|
NM_152564.5(VPS13B):c.2177T>C (p.Leu726Pro)
|
|
|
|
NM_152564.5(VPS13B):c.2178T>C (p.Leu726=)
|
|
|
|
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs)
|
rs2132624625
|
|
|
NM_152564.5(VPS13B):c.2184T>C (p.Tyr728=)
|
rs757079471
|
|
|
NM_152564.5(VPS13B):c.2189A>G (p.Tyr730Cys)
|
|
|
|
NM_152564.5(VPS13B):c.2190T>A (p.Tyr730Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2190T>G (p.Tyr730Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2193A>G (p.Val731=)
|
|
|
|
NM_152564.5(VPS13B):c.219A>G (p.Lys73=)
|
rs1842838550
|
|
|
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs)
|
rs386834075
|
|
|
NM_152564.5(VPS13B):c.2208+10G>A
|
rs1386411395
|
|
|
NM_152564.5(VPS13B):c.2208+19_2208+21del
|
|
|
|
NM_152564.5(VPS13B):c.2208+9del
|
rs2132624713
|
|
|
NM_152564.5(VPS13B):c.2208G>C (p.Lys736Asn)
|
|
|
|
NM_152564.5(VPS13B):c.2209-14T>C
|
rs935426581
|
|
|
NM_152564.5(VPS13B):c.2209-17T>C
|
|
|
|
NM_152564.5(VPS13B):c.2209-19T>A
|
|
|
|
NM_152564.5(VPS13B):c.2209-2A>G
|
|
|
|
NM_152564.5(VPS13B):c.2209-4T>G
|
rs201309214
|
|
|
NM_152564.5(VPS13B):c.2209-8T>G
|
rs1426142075
|
|
|
NM_152564.5(VPS13B):c.2209-9T>G
|
|
|
|
NM_152564.5(VPS13B):c.2217T>C (p.Gly739=)
|
|
|
|
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2241G>C (p.Leu747Phe)
|
rs757030166
|
|
|
NM_152564.5(VPS13B):c.2244T>G (p.Asp748Glu)
|
rs146450992
|
|
|
NM_152564.5(VPS13B):c.2247C>A (p.Cys749Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2253A>T (p.Gly751=)
|
rs1812239434
|
|
|
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys)
|
|
|
|
NM_152564.5(VPS13B):c.225T>C (p.Gly75=)
|
|
|
|
NM_152564.5(VPS13B):c.2265A>G (p.Leu755=)
|
rs2132663369
|
|
|
NM_152564.5(VPS13B):c.2268del (p.Val757fs)
|
rs1057516532
|
|
|
NM_152564.5(VPS13B):c.2269G>A (p.Val757Ile)
|
rs1202638841
|
|
|
NM_152564.5(VPS13B):c.2274del (p.Val759fs)
|
|
|
|
NM_152564.5(VPS13B):c.2281C>T (p.Pro761Ser)
|
rs1812241248
|
|
|
NM_152564.5(VPS13B):c.2283C>G (p.Pro761=)
|
rs2132663446
|
|
|
NM_152564.5(VPS13B):c.2283C>T (p.Pro761=)
|
|
|
|
NM_152564.5(VPS13B):c.2289C>A (p.Phe763Leu)
|
|
|
|
NM_152564.5(VPS13B):c.2289C>T (p.Phe763=)
|
|
|
|
NM_152564.5(VPS13B):c.2291G>T (p.Ser764Ile)
|
|
|
|
NM_152564.5(VPS13B):c.2292C>T (p.Ser764=)
|
|
|
|
NM_152564.5(VPS13B):c.2295T>A (p.Thr765=)
|
|
|
|
NM_152564.5(VPS13B):c.229G>A (p.Glu77Lys)
|
|
|
|
NM_152564.5(VPS13B):c.22C>G (p.Pro8Ala)
|
|
|
|
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs)
|
rs386834076
|
|
|
NM_152564.5(VPS13B):c.2301T>A (p.Leu767=)
|
rs2132663494
|
|
|
NM_152564.5(VPS13B):c.2306G>C (p.Gly769Ala)
|
rs1812242519
|
|
|
NM_152564.5(VPS13B):c.2308A>C (p.Lys770Gln)
|
|
|
|
NM_152564.5(VPS13B):c.2309A>G (p.Lys770Arg)
|
rs2132663512
|
|
|
NM_152564.5(VPS13B):c.2314C>T (p.Leu772=)
|
|
|
|
NM_152564.5(VPS13B):c.2321_2322del (p.Leu774fs)
|
rs2132663525
|
|
|
NM_152564.5(VPS13B):c.2323C>G (p.Pro775Ala)
|
rs779218452
|
|
|
NM_152564.5(VPS13B):c.232C>A (p.Pro78Thr)
|
rs954707371
|
|
|
NM_152564.5(VPS13B):c.2330G>A (p.Cys777Tyr)
|
rs900452617
|
|
|
NM_152564.5(VPS13B):c.2333+11C>G
|
|
|
|
NM_152564.5(VPS13B):c.2333+13T>C
|
|
|
|
NM_152564.5(VPS13B):c.2333+16T>A
|
|
|
|
NM_152564.5(VPS13B):c.2333+1G>T
|
rs1812243683
|
|
|
NM_152564.5(VPS13B):c.2333+2T>C
|
rs1554652265
|
|
|
NM_152564.5(VPS13B):c.2333+3A>G
|
|
|
|
NM_152564.5(VPS13B):c.2334-10T>C
|
|
|
|
NM_152564.5(VPS13B):c.2334-13T>C
|
rs768924726
|
|
|
NM_152564.5(VPS13B):c.2334-15T>C
|
rs944097523
|
|
|
NM_152564.5(VPS13B):c.2334-16C>A
|
|
|
|
NM_152564.5(VPS13B):c.2334-16_2334-11del
|
rs986620460
|
|
|
NM_152564.5(VPS13B):c.2334-18T>A
|
|
|
|
NM_152564.5(VPS13B):c.2334-18_2334-15del
|
rs2132727808
|
|
|
NM_152564.5(VPS13B):c.2334-19T>C
|
|
|
|
NM_152564.5(VPS13B):c.2334-19T>G
|
|
|
|
NM_152564.5(VPS13B):c.2334-20C>A
|
|
|
|
NM_152564.5(VPS13B):c.2334-2A>G
|
rs1554665974
|
|
|
NM_152564.5(VPS13B):c.2334-3C>G
|
rs749105779
|
|
|
NM_152564.5(VPS13B):c.2334-4G>A
|
|
|
|
NM_152564.5(VPS13B):c.2334-6G>A
|
rs564691751
|
|
|
NM_152564.5(VPS13B):c.2334-6G>T
|
|
|
|
NM_152564.5(VPS13B):c.2334-9C>T
|
rs2132727896
|
|
|
NM_152564.5(VPS13B):c.2334G>A (p.Trp778Ter)
|
rs2132727940
|
|
|
NM_152564.5(VPS13B):c.2336C>T (p.Thr779Ile)
|
|
|
|
NM_152564.5(VPS13B):c.2338A>C (p.Lys780Gln)
|
rs1359263734
|
|
|
NM_152564.5(VPS13B):c.2338A>G (p.Lys780Glu)
|
rs1359263734
|
|
|
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter)
|
rs1057516681
|
|
|
NM_152564.5(VPS13B):c.2347_2348del (p.Gln783fs)
|
rs1813682416
|
|
|
NM_152564.5(VPS13B):c.2350A>C (p.Ile784Leu)
|
|
|
|
NM_152564.5(VPS13B):c.2355T>A (p.Ala785=)
|
|
|
|
NM_152564.5(VPS13B):c.2361T>A (p.Thr787=)
|
|
|
|
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter)
|
rs1554666009
|
|
|
NM_152564.5(VPS13B):c.2367T>C (p.Gly789=)
|
|
|
|
NM_152564.5(VPS13B):c.236T>C (p.Val79Ala)
|
rs1587947443
|
|
|
NM_152564.5(VPS13B):c.2380C>A (p.Pro794Thr)
|
rs754548698
|
|
|
NM_152564.5(VPS13B):c.2381del (p.Pro794fs)
|
rs2132728101
|
|
|
NM_152564.5(VPS13B):c.2383A>T (p.Asn795Tyr)
|
rs781012935
|
|
|
NM_152564.5(VPS13B):c.2385T>C (p.Asn795=)
|
rs2132728136
|
|
|
NM_152564.5(VPS13B):c.2387_2388del (p.Leu796fs)
|
rs2132728144
|
|
|
NM_152564.5(VPS13B):c.2391A>T (p.Thr797=)
|
|
|
|
NM_152564.5(VPS13B):c.2395C>A (p.Gln799Lys)
|
|
|
|
NM_152564.5(VPS13B):c.2400T>G (p.Ala800=)
|
rs2132728204
|
|
|
NM_152564.5(VPS13B):c.2404A>G (p.Arg802Gly)
|
|
|
|
NM_152564.5(VPS13B):c.240A>G (p.Val80=)
|
|
|
|
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter)
|
rs869312923
|
|
|
NM_152564.5(VPS13B):c.2411A>G (p.Gln804Arg)
|
|
|
|
NM_152564.5(VPS13B):c.2414C>G (p.Thr805Arg)
|
rs1813686473
|
|
|
NM_152564.5(VPS13B):c.2422T>C (p.Leu808=)
|
|
|
|
NM_152564.5(VPS13B):c.2425C>T (p.Gln809Ter)
|
rs2132728269
|
|
|
NM_152564.5(VPS13B):c.2427A>G (p.Gln809=)
|
|
|
|
NM_152564.5(VPS13B):c.2431A>C (p.Ile811Leu)
|
rs370570714
|
|
|
NM_152564.5(VPS13B):c.2431A>G (p.Ile811Val)
|
rs370570714
|
|
|
NM_152564.5(VPS13B):c.2433A>T (p.Ile811=)
|
rs540795071
|
|
|
NM_152564.5(VPS13B):c.2435A>G (p.Tyr812Cys)
|
|
|
|
NM_152564.5(VPS13B):c.2441_2450delinsTGTCAGC (p.Ser814_His817delinsMetSerAla)
|
rs1813688418
|
|
|
NM_152564.5(VPS13B):c.2445G>A (p.Trp815Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2448_2449dup (p.His817fs)
|
|
|
|
NM_152564.5(VPS13B):c.2452C>T (p.Leu818Phe)
|
rs2132728416
|
|
|
NM_152564.5(VPS13B):c.2488T>C (p.Leu830=)
|
rs1449471227
|
|
|
NM_152564.5(VPS13B):c.2488T>G (p.Leu830Val)
|
|
|
|
NM_152564.5(VPS13B):c.2495A>G (p.Asn832Ser)
|
rs1286492322
|
|
|
NM_152564.5(VPS13B):c.2496T>C (p.Asn832=)
|
rs2132728537
|
|
|
NM_152564.5(VPS13B):c.2498A>G (p.Glu833Gly)
|
rs886841517
|
|
|
NM_152564.5(VPS13B):c.2499A>G (p.Glu833=)
|
rs2132728546
|
|
|
NM_152564.5(VPS13B):c.249C>G (p.Ile83Met)
|
rs765314153
|
|
|
NM_152564.5(VPS13B):c.2500A>G (p.Ile834Val)
|
|
|
|
NM_152564.5(VPS13B):c.2505C>T (p.Phe835=)
|
|
|
|
NM_152564.5(VPS13B):c.2507del (p.Leu836fs)
|
|
|
|
NM_152564.5(VPS13B):c.2508A>G (p.Leu836=)
|
|
|
|
NM_152564.5(VPS13B):c.250A>G (p.Asn84Asp)
|
rs1842839907
|
|
|
NM_152564.5(VPS13B):c.2512A>G (p.Ile838Val)
|
|
|
|
NM_152564.5(VPS13B):c.2513T>C (p.Ile838Thr)
|
|
|
|
NM_152564.5(VPS13B):c.2513_2514del (p.Ile838fs)
|
rs2132728587
|
|
|
NM_152564.5(VPS13B):c.2514A>G (p.Ile838Met)
|
|
|
|
NM_152564.5(VPS13B):c.2515+10_2515+11del
|
rs756906184
|
|
|
NM_152564.5(VPS13B):c.2515+11A>G
|
|
|
|
NM_152564.5(VPS13B):c.2515+15T>C
|
|
|
|
NM_152564.5(VPS13B):c.2515+16591C>G
|
|
|
|
NM_152564.5(VPS13B):c.2515+16596_2515+16608del
|
rs1554674064
|
|
|
NM_152564.5(VPS13B):c.2515+16609T>G
|
rs1554674081
|
|
|
NM_152564.5(VPS13B):c.2515+18T>C
|
|
|
|
NM_152564.5(VPS13B):c.2515+37177T>C
|
rs207469599
|
|
|
NM_152564.5(VPS13B):c.2515+7G>A
|
|
|
|
NM_152564.5(VPS13B):c.2515G>C (p.Gly839Arg)
|
|
|
|
NM_152564.5(VPS13B):c.2516-10C>G
|
|
|
|
NM_152564.5(VPS13B):c.2516-10C>T
|
|
|
|
NM_152564.5(VPS13B):c.2516-13T>A
|
|
|
|
NM_152564.5(VPS13B):c.2516-17C>T
|
rs1198342716
|
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
|
NM_152564.5(VPS13B):c.2516-3T>A
|
rs377723973
|
|
|
NM_152564.5(VPS13B):c.2516-5A>G
|
rs756282496
|
|
|
NM_152564.5(VPS13B):c.2516-6T>C
|
rs2132994722
|
|
|
NM_152564.5(VPS13B):c.2518G>A (p.Val840Met)
|
rs141694201
|
|
|
NM_152564.5(VPS13B):c.2521A>T (p.Lys841Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg)
|
rs1376390404
|
|
|
NM_152564.5(VPS13B):c.2523A>G (p.Lys841=)
|
|
|
|
NM_152564.5(VPS13B):c.2527_2528insT (p.Lys843fs)
|
rs1818768251
|
|
|
NM_152564.5(VPS13B):c.2531A>G (p.Asn844Ser)
|
rs2132994774
|
|
|
NM_152564.5(VPS13B):c.2536C>G (p.Leu846Val)
|
rs934545731
|
|
|
NM_152564.5(VPS13B):c.2536del (p.Leu846fs)
|
rs1818768394
|
|
|
NM_152564.5(VPS13B):c.2541A>G (p.Pro847=)
|
rs2132994812
|
|
|
NM_152564.5(VPS13B):c.2542A>G (p.Thr848Ala)
|
rs745738175
|
|
|
NM_152564.5(VPS13B):c.2543C>T (p.Thr848Ile)
|
rs1818769668
|
|
|
NM_152564.5(VPS13B):c.2547T>G (p.Leu849=)
|
|
|
|
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs)
|
rs1554706149
|
|
|
NM_152564.5(VPS13B):c.2555C>T (p.Ser852Leu)
|
rs147682334
|
|
|
NM_152564.5(VPS13B):c.2558del (p.Ile853fs)
|
|
|
|
NM_152564.5(VPS13B):c.2560C>T (p.Gln854Ter)
|
rs2132994876
|
|
|
NM_152564.5(VPS13B):c.2567T>C (p.Val856Ala)
|
rs1588198594
|
|
|
NM_152564.5(VPS13B):c.256A>G (p.Met86Val)
|
|
|
|
NM_152564.5(VPS13B):c.2571A>G (p.Glu857=)
|
|
|
|
NM_152564.5(VPS13B):c.2572T>C (p.Leu858=)
|
|
|
|
NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys)
|
rs1554706171
|
|
|
NM_152564.5(VPS13B):c.2583C>A (p.Cys861Ter)
|
rs199868590
|
|
|
NM_152564.5(VPS13B):c.2584A>G (p.Ser862Gly)
|
rs2132994953
|
|
|
NM_152564.5(VPS13B):c.2586C>T (p.Ser862=)
|
rs2132994959
|
|
|
NM_152564.5(VPS13B):c.2589A>G (p.Thr863=)
|
rs865998297
|
|
|
NM_152564.5(VPS13B):c.2589A>T (p.Thr863=)
|
|
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
|
NM_152564.5(VPS13B):c.2592A>G (p.Ser864=)
|
|
|
|
NM_152564.5(VPS13B):c.259del (p.Glu87fs)
|
|
|
|
NM_152564.5(VPS13B):c.2603G>A (p.Cys868Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.2607C>G (p.Ala869=)
|
|
|
|
NM_152564.5(VPS13B):c.2607C>T (p.Ala869=)
|
rs2132995061
|
|
|
NM_152564.5(VPS13B):c.2609C>T (p.Ser870Phe)
|
rs376044341
|
|
|
NM_152564.5(VPS13B):c.2613G>A (p.Gly871=)
|
rs543695683
|
|
|
NM_152564.5(VPS13B):c.2625A>G (p.Ser875=)
|
|
|
|
NM_152564.5(VPS13B):c.2634T>C (p.Ile878=)
|
rs771711465
|
|
|
NM_152564.5(VPS13B):c.2639C>T (p.Ala880Val)
|
|
|
|
NM_152564.5(VPS13B):c.2640C>T (p.Ala880=)
|
|
|
|
NM_152564.5(VPS13B):c.2642A>C (p.Lys881Thr)
|
rs2132995145
|
|
|
NM_152564.5(VPS13B):c.2646C>T (p.Ala882=)
|
rs369124790
|
|
|
NM_152564.5(VPS13B):c.2648C>T (p.Pro883Leu)
|
rs1192025517
|
|
|
NM_152564.5(VPS13B):c.2649A>G (p.Pro883=)
|
|
|
|
NM_152564.5(VPS13B):c.2650+14G>A
|
|
|
|
NM_152564.5(VPS13B):c.2650+15A>G
|
|
|
|
NM_152564.5(VPS13B):c.2650+17C>A
|
rs753268999
|
|
|
NM_152564.5(VPS13B):c.2650+18G>A
|
|
|
|
NM_152564.5(VPS13B):c.2650+18G>T
|
|
|
|
NM_152564.5(VPS13B):c.2650+19T>C
|
|
|
|
NM_152564.5(VPS13B):c.2650+1G>A
|
rs1554706285
|
|
|
NM_152564.5(VPS13B):c.2650+8C>T
|
rs2132995227
|
|
|
NM_152564.5(VPS13B):c.2651-12A>G
|
rs886062538
|
|
|
NM_152564.5(VPS13B):c.2651-17T>A
|
|
|
|
NM_152564.5(VPS13B):c.2651-18A>G
|
|
|
|
NM_152564.5(VPS13B):c.2651-1G>A
|
rs386834077
|
|
|
NM_152564.5(VPS13B):c.2651-4T>C
|
|
|
|
NM_152564.5(VPS13B):c.2651-5T>G
|
|
|
|
NM_152564.5(VPS13B):c.2670G>A (p.Lys890=)
|
rs2132998272
|
|
|
NM_152564.5(VPS13B):c.2676T>A (p.Ile892=)
|
rs2132998319
|
|
|
NM_152564.5(VPS13B):c.2677C>A (p.Pro893Thr)
|
rs373346647
|
|
|
NM_152564.5(VPS13B):c.2677C>G (p.Pro893Ala)
|
rs373346647
|
|
|
NM_152564.5(VPS13B):c.2679C>G (p.Pro893=)
|
|
|
|
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs)
|
rs1554706662
|
|
|
NM_152564.5(VPS13B):c.2693C>T (p.Pro898Leu)
|
rs1818826321
|
|
|
NM_152564.5(VPS13B):c.2703T>C (p.Thr901=)
|
|
|
|
NM_152564.5(VPS13B):c.2709C>T (p.Asp903=)
|
rs1295995587
|
|
|
NM_152564.5(VPS13B):c.2715T>C (p.His905=)
|
rs1161109130
|
|
|
NM_152564.5(VPS13B):c.2718C>T (p.Ser906=)
|
|
|
|
NM_152564.5(VPS13B):c.2723del (p.Lys908fs)
|
|
|
|
NM_152564.5(VPS13B):c.2724G>A (p.Lys908=)
|
|
|
|
NM_152564.5(VPS13B):c.2725T>G (p.Trp909Gly)
|
|
|
|
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs)
|
rs180177357
|
|
|
NM_152564.5(VPS13B):c.2730C>T (p.Leu910=)
|
rs2132998543
|
|
|
NM_152564.5(VPS13B):c.2732A>G (p.Asn911Ser)
|
rs1818828701
|
|
|
NM_152564.5(VPS13B):c.2738G>C (p.Ser913Thr)
|
rs751622263
|
|
|
NM_152564.5(VPS13B):c.2738G>T (p.Ser913Ile)
|
|
|
|
NM_152564.5(VPS13B):c.2740A>C (p.Arg914=)
|
|
|
|
NM_152564.5(VPS13B):c.2745G>A (p.Lys915=)
|
|
|
|
NM_152564.5(VPS13B):c.2750_2751del (p.Glu917fs)
|
|
|
|
NM_152564.5(VPS13B):c.2752T>C (p.Ser918Pro)
|
rs886062539
|
|
|
NM_152564.5(VPS13B):c.2763T>G (p.Ala921=)
|
|
|
|
NM_152564.5(VPS13B):c.276T>A (p.Leu92=)
|
|
|
|
NM_152564.5(VPS13B):c.276del (p.Lys93fs)
|
|
|
|
NM_152564.5(VPS13B):c.2771del (p.Asp923_Leu924insTer)
|
|
|
|
NM_152564.5(VPS13B):c.2776G>A (p.Ala926Thr)
|
|
|
|
NM_152564.5(VPS13B):c.2778C>T (p.Ala926=)
|
|
|
|
NM_152564.5(VPS13B):c.2778del (p.Phe927fs)
|
rs1818830393
|
|
|
NM_152564.5(VPS13B):c.2783C>G (p.Thr928Arg)
|
rs1563641612
|
|
|
NM_152564.5(VPS13B):c.2784A>C (p.Thr928=)
|
rs2132998726
|
|
|
NM_152564.5(VPS13B):c.2799A>G (p.Gln933=)
|
rs1818831444
|
|
|
NM_152564.5(VPS13B):c.2800T>C (p.Tyr934His)
|
rs1679704470
|
|
|
NM_152564.5(VPS13B):c.2802T>C (p.Tyr934=)
|
rs906591800
|
|
|
NM_152564.5(VPS13B):c.2811C>T (p.Tyr937=)
|
|
|
|
NM_152564.5(VPS13B):c.2812T>G (p.Cys938Gly)
|
rs1818832537
|
|
|
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs)
|
rs1057517255
|
|
|
NM_152564.5(VPS13B):c.2824+13C>G
|
|
|
|
NM_152564.5(VPS13B):c.2824+15A>G
|
|
|
|
NM_152564.5(VPS13B):c.2824+18A>C
|
|
|
|
NM_152564.5(VPS13B):c.2824+18A>G
|
rs756055744
|
|
|
NM_152564.5(VPS13B):c.2824+2T>G
|
rs141703746
|
|
|
NM_152564.5(VPS13B):c.2824+4A>G
|
|
|
|
NM_152564.5(VPS13B):c.2824+5_2824+11dup
|
|
|
|
NM_152564.5(VPS13B):c.2824+7A>G
|
rs2132999013
|
|
|
NM_152564.5(VPS13B):c.2824+8C>G
|
|
|
|
NM_152564.5(VPS13B):c.2824+97G>C
|
rs7840337
|
|
|
NM_152564.5(VPS13B):c.2824G>T (p.Gly942Cys)
|
rs370336663
|
|
|
NM_152564.5(VPS13B):c.2825-11T>C
|
|
|
|
NM_152564.5(VPS13B):c.2825-13T>C
|
|
|
|
NM_152564.5(VPS13B):c.2825-14A>G
|
|
|
|
NM_152564.5(VPS13B):c.2825-9G>A
|
rs2133295036
|
|
|
NM_152564.5(VPS13B):c.2825G>A (p.Gly942Asp)
|
|
|
|
NM_152564.5(VPS13B):c.2828del (p.Ala943fs)
|
rs1554765140
|
|
|
NM_152564.5(VPS13B):c.2829T>C (p.Ala943=)
|
|
|
|
NM_152564.5(VPS13B):c.2830G>T (p.Val944Leu)
|
rs753607562
|
|
|
NM_152564.5(VPS13B):c.2832A>G (p.Val944=)
|
|
|
|
NM_152564.5(VPS13B):c.2843G>A (p.Ser948Asn)
|
rs749988222
|
|
|
NM_152564.5(VPS13B):c.2845A>G (p.Ile949Val)
|
rs758076178
|
|
|
NM_152564.5(VPS13B):c.2852G>T (p.Gly951Val)
|
rs770406179
|
|
|
NM_152564.5(VPS13B):c.2855del (p.Leu952fs)
|
rs1554765173
|
|
|
NM_152564.5(VPS13B):c.285G>A (p.Gly95=)
|
rs2132222228
|
|
|
NM_152564.5(VPS13B):c.285G>C (p.Gly95=)
|
|
|
|
NM_152564.5(VPS13B):c.285dup (p.Ile96fs)
|
|
|
|
NM_152564.5(VPS13B):c.2864A>G (p.Asn955Ser)
|
rs771483197
|
|
|
NM_152564.5(VPS13B):c.2867T>C (p.Ile956Thr)
|
|
|
|
NM_152564.5(VPS13B):c.2872C>A (p.Pro958Thr)
|
|
|
|
NM_152564.5(VPS13B):c.2877C>A (p.Ile959=)
|
rs371301713
|
|
|
NM_152564.5(VPS13B):c.2879T>G (p.Leu960Ter)
|
rs775378782
|
|
|
NM_152564.5(VPS13B):c.2887T>G (p.Trp963Gly)
|
rs761581467
|
|
|
NM_152564.5(VPS13B):c.2889del (p.Trp963fs)
|
rs1563700124
|
|
|
NM_152564.5(VPS13B):c.2893_2895del (p.Ile965del)
|
rs748137454
|
|
|
NM_152564.5(VPS13B):c.2895C>T (p.Ile965=)
|
|
|
|
NM_152564.5(VPS13B):c.2900A>G (p.Gln967Arg)
|
|
|
|
NM_152564.5(VPS13B):c.2903C>T (p.Pro968Leu)
|
|
|
|
NM_152564.5(VPS13B):c.2905C>T (p.Gln969Ter)
|
rs2133295344
|
|
|
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
|
|
|
|
NM_152564.5(VPS13B):c.291+10T>A
|
|
|
|
NM_152564.5(VPS13B):c.291+10T>G
|
rs2132222283
|
|
|
NM_152564.5(VPS13B):c.291+11A>G
|
|
|
|
NM_152564.5(VPS13B):c.291+13T>C
|
|
|
|
NM_152564.5(VPS13B):c.291+17C>G
|
|
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
|
NM_152564.5(VPS13B):c.291+20A>C
|
rs2132222331
|
|
|
NM_152564.5(VPS13B):c.291+2T>A
|
|
|
|
NM_152564.5(VPS13B):c.291+7A>C
|
rs571078874
|
|
|
NM_152564.5(VPS13B):c.291+8A>G
|
|
|
|
NM_152564.5(VPS13B):c.2915C>T (p.Thr972Ile)
|
|
|
|
NM_152564.5(VPS13B):c.292-12A>T
|
|
|
|
NM_152564.5(VPS13B):c.292-18T>C
|
rs2132431309
|
|
|
NM_152564.5(VPS13B):c.292-1G>A
|
rs1057520768
|
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
|
NM_152564.5(VPS13B):c.292-7A>G
|
rs1554612610
|
|
|
NM_152564.5(VPS13B):c.2923C>A (p.His975Asn)
|
rs1813997088
|
|
|
NM_152564.5(VPS13B):c.2927T>C (p.Met976Thr)
|
rs1439673220
|
|
|
NM_152564.5(VPS13B):c.2932C>T (p.Gln978Ter)
|
rs1563700205
|
|
|
NM_152564.5(VPS13B):c.2934+14A>C
|
|
|
|
NM_152564.5(VPS13B):c.2934+19A>T
|
|
|
|
NM_152564.5(VPS13B):c.2934+1G>T
|
rs775729058
|
|
|
NM_152564.5(VPS13B):c.2934+1_2934+2del
|
rs180177358
|
|
|
NM_152564.5(VPS13B):c.2934+25dup
|
rs770873113
|
|
|
NM_152564.5(VPS13B):c.2934+2T>A
|
|
|
|
NM_152564.5(VPS13B):c.2934+7G>A
|
rs368439781
|
|
|
NM_152564.5(VPS13B):c.2934+7G>T
|
|
|
|
NM_152564.5(VPS13B):c.2934+8A>T
|
|
|
|
NM_152564.5(VPS13B):c.2935-10C>T
|
|
|
|
NM_152564.5(VPS13B):c.2935-12G>A
|
|
|
|
NM_152564.5(VPS13B):c.2935-14T>G
|
|
|
|
NM_152564.5(VPS13B):c.2935-17A>G
|
|
|
|
NM_152564.5(VPS13B):c.2935-1G>A
|
rs2133312466
|
|
|
NM_152564.5(VPS13B):c.2935-20T>C
|
|
|
|
NM_152564.5(VPS13B):c.2935-4C>A
|
rs207469601
|
|
|
NM_152564.5(VPS13B):c.2935C>T (p.Gln979Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2940T>C (p.Pro980=)
|
|
|
|
NM_152564.5(VPS13B):c.2943G>T (p.Val981=)
|
rs759221342
|
|
|
NM_152564.5(VPS13B):c.2946A>C (p.Val982=)
|
|
|
|
NM_152564.5(VPS13B):c.2946A>G (p.Val982=)
|
rs2133312490
|
|
|
NM_152564.5(VPS13B):c.2946A>T (p.Val982=)
|
rs2133312490
|
|
|
NM_152564.5(VPS13B):c.2948C>A (p.Ala983Asp)
|
|
|
|
NM_152564.5(VPS13B):c.2950G>C (p.Val984Leu)
|
|
|
|
NM_152564.5(VPS13B):c.2959G>A (p.Val987Ile)
|
rs1814450578
|
|
|
NM_152564.5(VPS13B):c.2963dup (p.Met988fs)
|
|
|
|
NM_152564.5(VPS13B):c.2965C>A (p.Pro989Thr)
|
|
|
|
NM_152564.5(VPS13B):c.2970T>C (p.Val990=)
|
|
|
|
NM_152564.5(VPS13B):c.2975G>A (p.Arg992Lys)
|
|
|
|
NM_152564.5(VPS13B):c.2976A>G (p.Arg992=)
|
rs2133312565
|
|
|
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
|
|
|
|
NM_152564.5(VPS13B):c.2982A>G (p.Lys994=)
|
rs750994865
|
|
|
NM_152564.5(VPS13B):c.2985G>A (p.Glu995=)
|
rs1484738776
|
|
|
NM_152564.5(VPS13B):c.2988T>A (p.Asp996Glu)
|
rs758840412
|
|
|
NM_152564.5(VPS13B):c.2989dup (p.Glu997fs)
|
rs2133312597
|
|
|
NM_152564.5(VPS13B):c.2991G>A (p.Glu997=)
|
|
|
|
NM_152564.5(VPS13B):c.2993T>G (p.Val998Gly)
|
rs892148263
|
|
|
NM_152564.5(VPS13B):c.2999T>C (p.Ile1000Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3000T>A (p.Ile1000=)
|
rs1465563233
|
|
|
NM_152564.5(VPS13B):c.3005G>A (p.Ser1002Asn)
|
|
|
|
NM_152564.5(VPS13B):c.3009C>A (p.Ala1003=)
|
|
|
|
NM_152564.5(VPS13B):c.3009C>T (p.Ala1003=)
|
|
|
|
NM_152564.5(VPS13B):c.3010C>T (p.Pro1004Ser)
|
rs2133312661
|
|
|
NM_152564.5(VPS13B):c.3011C>A (p.Pro1004His)
|
|
|
|
NM_152564.5(VPS13B):c.3012C>T (p.Pro1004=)
|
rs199519352
|
|
|
NM_152564.5(VPS13B):c.3013T>A (p.Leu1005Met)
|
rs1563704394
|
|
|
NM_152564.5(VPS13B):c.3013T>C (p.Leu1005=)
|
rs1563704394
|
|
|
NM_152564.5(VPS13B):c.3015G>A (p.Leu1005=)
|
|
|
|
NM_152564.5(VPS13B):c.3017C>A (p.Ala1006Glu)
|
|
|
|
NM_152564.5(VPS13B):c.3020A>C (p.Lys1007Thr)
|
rs1297164249
|
|
|
NM_152564.5(VPS13B):c.3020A>G (p.Lys1007Arg)
|
rs1297164249
|
|
|
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs)
|
rs1554767735
|
|
|
NM_152564.5(VPS13B):c.3021G>A (p.Lys1007=)
|
rs1043986535
|
|
|
NM_152564.5(VPS13B):c.3023A>G (p.Gln1008Arg)
|
|
|
|
NM_152564.5(VPS13B):c.3025C>T (p.Gln1009Ter)
|
rs2133312718
|
|
|
NM_152564.5(VPS13B):c.3026A>T (p.Gln1009Leu)
|
rs1814454254
|
|
|
NM_152564.5(VPS13B):c.3027A>G (p.Gln1009=)
|
rs1814454495
|
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
|
NM_152564.5(VPS13B):c.3032_3033del (p.Tyr1011fs)
|
|
|
|
NM_152564.5(VPS13B):c.3039C>T (p.Ala1013=)
|
rs1369894896
|
|
|
NM_152564.5(VPS13B):c.3048T>C (p.Tyr1016=)
|
rs2133312781
|
|
|
NM_152564.5(VPS13B):c.3058C>A (p.Pro1020Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3060T>C (p.Pro1020=)
|
|
|
|
NM_152564.5(VPS13B):c.3061G>C (p.Val1021Leu)
|
|
|
|
NM_152564.5(VPS13B):c.3067A>T (p.Thr1023Ser)
|
rs1814455883
|
|
|
NM_152564.5(VPS13B):c.3068del (p.Thr1023fs)
|
rs2133312827
|
|
|
NM_152564.5(VPS13B):c.3070A>G (p.Lys1024Glu)
|
|
|
|
NM_152564.5(VPS13B):c.3072A>G (p.Lys1024=)
|
rs2133312842
|
|
|
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs)
|
rs1057516834
|
|
|
NM_152564.5(VPS13B):c.3074C>T (p.Thr1025Met)
|
|
|
|
NM_152564.5(VPS13B):c.3075G>C (p.Thr1025=)
|
|
|
|
NM_152564.5(VPS13B):c.3082+11A>G
|
|
|
|
NM_152564.5(VPS13B):c.3082+12G>A
|
|
|
|
NM_152564.5(VPS13B):c.3082+13T>C
|
|
|
|
NM_152564.5(VPS13B):c.3082+14A>G
|
|
|
|
NM_152564.5(VPS13B):c.3082+17G>A
|
rs2133312921
|
|
|
NM_152564.5(VPS13B):c.3082+18dup
|
|
|
|
NM_152564.5(VPS13B):c.3082+19A>G
|
|
|
|
NM_152564.5(VPS13B):c.3082+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.3082+5G>A
|
|
|
|
NM_152564.5(VPS13B):c.3082+9C>A
|
|
|
|
NM_152564.5(VPS13B):c.3083-11C>T
|
|
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
|
NM_152564.5(VPS13B):c.3083-5C>G
|
|
|
|
NM_152564.5(VPS13B):c.3083-6A>C
|
|
|
|
NM_152564.5(VPS13B):c.3083-6A>G
|
|
|
|
NM_152564.5(VPS13B):c.3083-7_3083-6dup
|
|
|
|
NM_152564.5(VPS13B):c.3083-8G>C
|
|
|
|
NM_152564.5(VPS13B):c.3083-8G>T
|
rs201973611
|
|
|
NM_152564.5(VPS13B):c.3090C>A (p.Arg1030=)
|
rs2133412233
|
|
|
NM_152564.5(VPS13B):c.3090C>T (p.Arg1030=)
|
|
|
|
NM_152564.5(VPS13B):c.3093A>G (p.Pro1031=)
|
|
|
|
NM_152564.5(VPS13B):c.3094T>C (p.Leu1032=)
|
rs373538168
|
|
|
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs)
|
rs1554788238
|
|
|
NM_152564.5(VPS13B):c.3099A>G (p.Ser1033=)
|
rs1480645575
|
|
|
NM_152564.5(VPS13B):c.309T>C (p.Cys103=)
|
rs2132431451
|
|
|
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs)
|
rs1057516926
|
|
|
NM_152564.5(VPS13B):c.3108T>G (p.Val1036=)
|
|
|
|
NM_152564.5(VPS13B):c.310G>A (p.Gly104Ser)
|
|
|
|
NM_152564.5(VPS13B):c.3115A>G (p.Met1039Val)
|
|
|
|
NM_152564.5(VPS13B):c.3118T>A (p.Leu1040Met)
|
rs746830200
|
|
|
NM_152564.5(VPS13B):c.3118T>C (p.Leu1040=)
|
|
|
|
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs)
|
rs1057517447
|
|
|
NM_152564.5(VPS13B):c.3147T>C (p.Pro1049=)
|
rs2133412382
|
|
|
NM_152564.5(VPS13B):c.3151G>T (p.Glu1051Ter)
|
rs2133412405
|
|
|
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3158T>A (p.Met1053Lys)
|
|
|
|
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3168T>C (p.Phe1056=)
|
|
|
|
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3177T>A (p.Ile1059=)
|
rs2133412452
|
|
|
NM_152564.5(VPS13B):c.3178G>A (p.Val1060Ile)
|
|
|
|
NM_152564.5(VPS13B):c.3183G>T (p.Trp1061Cys)
|
rs1817118329
|
|
|
NM_152564.5(VPS13B):c.3186T>C (p.Asn1062=)
|
|
|
|
NM_152564.5(VPS13B):c.3187G>A (p.Ala1063Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3192G>A (p.Val1064=)
|
|
|
|
NM_152564.5(VPS13B):c.3194_3198del (p.Lys1065fs)
|
rs2133412472
|
|
|
NM_152564.5(VPS13B):c.31A>T (p.Met11Leu)
|
|
|
|
NM_152564.5(VPS13B):c.3200T>C (p.Leu1067Pro)
|
rs1563727071
|
|
|
NM_152564.5(VPS13B):c.3205C>T (p.Leu1069=)
|
|
|
|
NM_152564.5(VPS13B):c.3208del (p.Gln1070fs)
|
|
|
|
NM_152564.5(VPS13B):c.3210+10A>T
|
rs2133412544
|
|
|
NM_152564.5(VPS13B):c.3210+10_3210+11del
|
|
|
|
NM_152564.5(VPS13B):c.3210+16G>T
|
|
|
|
NM_152564.5(VPS13B):c.3210+9A>C
|
rs1430245354
|
|
|
NM_152564.5(VPS13B):c.3210G>C (p.Gln1070His)
|
rs1411916211
|
|
|
NM_152564.5(VPS13B):c.3211-12T>C
|
|
|
|
NM_152564.5(VPS13B):c.3211-9C>G
|
rs772598316
|
|
|
NM_152564.5(VPS13B):c.3211-9C>T
|
|
|
|
NM_152564.5(VPS13B):c.3213T>C (p.Leu1071=)
|
rs1588384604
|
|
|
NM_152564.5(VPS13B):c.3214G>A (p.Glu1072Lys)
|
rs1370204743
|
|
|
NM_152564.5(VPS13B):c.3214G>T (p.Glu1072Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3217G>A (p.Val1073Ile)
|
|
|
|
NM_152564.5(VPS13B):c.3219A>G (p.Val1073=)
|
rs1234904975
|
|
|
NM_152564.5(VPS13B):c.3221A>G (p.Gln1074Arg)
|
rs1348314962
|
|
|
NM_152564.5(VPS13B):c.3222A>G (p.Gln1074=)
|
rs979109725
|
|
|
NM_152564.5(VPS13B):c.3225T>C (p.Ser1075=)
|
rs2133440516
|
|
|
NM_152564.5(VPS13B):c.322A>G (p.Thr108Ala)
|
rs2132431469
|
|
|
NM_152564.5(VPS13B):c.3230G>A (p.Cys1077Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.3234del (p.Phe1079fs)
|
|
|
|
NM_152564.5(VPS13B):c.3237T>C (p.Phe1079=)
|
rs2133440561
|
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
|
NM_152564.5(VPS13B):c.3244A>C (p.Asn1082His)
|
rs765577339
|
|
|
NM_152564.5(VPS13B):c.3244A>G (p.Asn1082Asp)
|
|
|
|
NM_152564.5(VPS13B):c.3249T>A (p.Asp1083Glu)
|
rs1196083061
|
|
|
NM_152564.5(VPS13B):c.3249T>C (p.Asp1083=)
|
|
|
|
NM_152564.5(VPS13B):c.324C>A (p.Thr108=)
|
rs1846416304
|
|
|
NM_152564.5(VPS13B):c.3252C>A (p.Ser1084Arg)
|
|
|
|
NM_152564.5(VPS13B):c.3252C>T (p.Ser1084=)
|
|
|
|
NM_152564.5(VPS13B):c.3253C>T (p.Leu1085=)
|
rs2133440599
|
|
|
NM_152564.5(VPS13B):c.3261C>T (p.Ser1087=)
|
|
|
|
NM_152564.5(VPS13B):c.3276A>G (p.Val1092=)
|
|
|
|
NM_152564.5(VPS13B):c.3277T>G (p.Ser1093Ala)
|
rs752514763
|
|
|
NM_152564.5(VPS13B):c.3279T>C (p.Ser1093=)
|
rs1817722882
|
|
|
NM_152564.5(VPS13B):c.3285C>T (p.Asp1095=)
|
rs2133440683
|
|
|
NM_152564.5(VPS13B):c.3291T>C (p.Pro1097=)
|
rs2133440688
|
|
|
NM_152564.5(VPS13B):c.3293G>A (p.Gly1098Glu)
|
|
|
|
NM_152564.5(VPS13B):c.3294A>C (p.Gly1098=)
|
|
|
|
NM_152564.5(VPS13B):c.3300A>T (p.Val1100=)
|
rs770402973
|
|
|
NM_152564.5(VPS13B):c.3307T>A (p.Trp1103Arg)
|
rs747406522
|
|
|
NM_152564.5(VPS13B):c.3307_3310dup (p.Tyr1104fs)
|
|
|
|
NM_152564.5(VPS13B):c.3308G>A (p.Trp1103Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3312C>T (p.Tyr1104=)
|
|
|
|
NM_152564.5(VPS13B):c.3315T>C (p.His1105=)
|
rs2133440745
|
|
|
NM_152564.5(VPS13B):c.3324C>A (p.Thr1108=)
|
rs762308992
|
|
|
NM_152564.5(VPS13B):c.3326G>A (p.Ser1109Asn)
|
rs1474402474
|
|
|
NM_152564.5(VPS13B):c.3327C>T (p.Ser1109=)
|
rs2133440777
|
|
|
NM_152564.5(VPS13B):c.332G>A (p.Ser111Asn)
|
rs1846417432
|
|
|
NM_152564.5(VPS13B):c.332G>T (p.Ser111Ile)
|
|
|
|
NM_152564.5(VPS13B):c.3330G>T (p.Met1110Ile)
|
rs773628960
|
|
|
NM_152564.5(VPS13B):c.3336A>G (p.Gly1112=)
|
rs751695118
|
|
|
NM_152564.5(VPS13B):c.3339A>G (p.Thr1113=)
|
rs961797247
|
|
|
NM_152564.5(VPS13B):c.333T>C (p.Ser111=)
|
rs2132431523
|
|
|
NM_152564.5(VPS13B):c.3341T>C (p.Leu1114Pro)
|
rs1817725649
|
|
|
NM_152564.5(VPS13B):c.3342T>A (p.Leu1114=)
|
|
|
|
NM_152564.5(VPS13B):c.3345C>G (p.Val1115=)
|
|
|
|
NM_152564.5(VPS13B):c.3345C>T (p.Val1115=)
|
rs2133440823
|
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
|
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs)
|
rs1554793521
|
|
|
NM_152564.5(VPS13B):c.3351T>C (p.Cys1117=)
|
|
|
|
NM_152564.5(VPS13B):c.3354G>T (p.Leu1118Phe)
|
rs1817726307
|
|
|
NM_152564.5(VPS13B):c.335C>A (p.Thr112Asn)
|
rs1184653913
|
|
|
NM_152564.5(VPS13B):c.3360A>G (p.Gln1120=)
|
|
|
|
NM_152564.5(VPS13B):c.3372T>G (p.Ile1124Met)
|
rs1292302782
|
|
|
NM_152564.5(VPS13B):c.3375T>G (p.Ser1125Arg)
|
|
|
|
NM_152564.5(VPS13B):c.3376G>A (p.Ala1126Thr)
|
rs1817727523
|
|
|
NM_152564.5(VPS13B):c.3382C>A (p.His1128Asn)
|
rs1563732631
|
|
|
NM_152564.5(VPS13B):c.3384C>T (p.His1128=)
|
|
|
|
NM_152564.5(VPS13B):c.3390T>A (p.Tyr1130Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3394G>T (p.Glu1132Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3397C>T (p.Pro1133Ser)
|
rs781781537
|
|
|
NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del)
|
rs1554793589
|
|
|
NM_152564.5(VPS13B):c.3406G>A (p.Glu1136Lys)
|
rs199902569
|
|
|
NM_152564.5(VPS13B):c.3414A>G (p.Pro1138=)
|
|
|
|
NM_152564.5(VPS13B):c.3414A>T (p.Pro1138=)
|
|
|
|
NM_152564.5(VPS13B):c.3423C>A (p.Ile1141=)
|
|
|
|
NM_152564.5(VPS13B):c.3423C>T (p.Ile1141=)
|
rs1180404619
|
|
|
NM_152564.5(VPS13B):c.3426A>C (p.Pro1142=)
|
|
|
|
NM_152564.5(VPS13B):c.3429A>G (p.Arg1143=)
|
rs1817730016
|
|
|
NM_152564.5(VPS13B):c.3434T>C (p.Ile1145Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3438T>A (p.Leu1146=)
|
|
|
|
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3443A>G (p.Glu1148Gly)
|
|
|
|
NM_152564.5(VPS13B):c.3444A>C (p.Glu1148Asp)
|
|
|
|
NM_152564.5(VPS13B):c.3445+11A>C
|
|
|
|
NM_152564.5(VPS13B):c.3445+11A>T
|
|
|
|
NM_152564.5(VPS13B):c.3445+14T>A
|
|
|
|
NM_152564.5(VPS13B):c.3445+1G>T
|
rs1034855385
|
|
|
NM_152564.5(VPS13B):c.3445+20dup
|
|
|
|
NM_152564.5(VPS13B):c.3445+2T>A
|
|
|
|
NM_152564.5(VPS13B):c.3445+3A>T
|
rs775461539
|
|
|
NM_152564.5(VPS13B):c.3445+7G>A
|
rs2133441083
|
|
|
NM_152564.5(VPS13B):c.3445+7_3445+9dup
|
rs1335342521
|
|
|
NM_152564.5(VPS13B):c.3446-10C>T
|
|
|
|
NM_152564.5(VPS13B):c.3446-11C>A
|
|
|
|
NM_152564.5(VPS13B):c.3446-11C>T
|
rs749898086
|
|
|
NM_152564.5(VPS13B):c.3446-12C>G
|
|
|
|
NM_152564.5(VPS13B):c.3446-17T>G
|
|
|
|
NM_152564.5(VPS13B):c.3446-19C>T
|
rs2133510590
|
|
|
NM_152564.5(VPS13B):c.3446-1G>A
|
|
|
|
NM_152564.5(VPS13B):c.3446-23T>G
|
rs2133510569
|
|
|
NM_152564.5(VPS13B):c.3446-382_3463del
|
rs1588410519
|
|
|
NM_152564.5(VPS13B):c.3446-6T>A
|
rs371720857
|
|
|
NM_152564.5(VPS13B):c.3446-7A>G
|
rs1286759524
|
|
|
NM_152564.5(VPS13B):c.3446-8T>C
|
rs2133510634
|
|
|
NM_152564.5(VPS13B):c.3446-9C>G
|
|
|
|
NM_152564.5(VPS13B):c.3446-9C>T
|
|
|
|
NM_152564.5(VPS13B):c.3450T>C (p.Asp1150=)
|
|
|
|
NM_152564.5(VPS13B):c.3461G>A (p.Trp1154Ter)
|
rs2133510708
|
|
|
NM_152564.5(VPS13B):c.3482T>G (p.Phe1161Cys)
|
rs1563746308
|
|
|
NM_152564.5(VPS13B):c.3489A>G (p.Ile1163Met)
|
|
|
|
NM_152564.5(VPS13B):c.3490T>C (p.Tyr1164His)
|
|
|
|
NM_152564.5(VPS13B):c.3492_3493dup (p.Thr1165fs)
|
rs2133510772
|
|
|
NM_152564.5(VPS13B):c.3496del (p.Leu1166fs)
|
|
|
|
NM_152564.5(VPS13B):c.3501_3502insAA (p.Gly1168fs)
|
|
|
|
NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys)
|
rs1554806874
|
|
|
NM_152564.5(VPS13B):c.3504A>G (p.Gly1168=)
|
rs2133510852
|
|
|
NM_152564.5(VPS13B):c.3512T>G (p.Val1171Gly)
|
rs771030813
|
|
|
NM_152564.5(VPS13B):c.3516A>C (p.Thr1172=)
|
|
|
|
NM_152564.5(VPS13B):c.351A>G (p.Lys117=)
|
|
|
|
NM_152564.5(VPS13B):c.3521G>A (p.Cys1174Tyr)
|
rs1819171069
|
|
|
NM_152564.5(VPS13B):c.3522C>A (p.Cys1174Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3535A>T (p.Met1179Leu)
|
rs764040349
|
|
|
NM_152564.5(VPS13B):c.3536T>G (p.Met1179Arg)
|
|
|
|
NM_152564.5(VPS13B):c.3538G>A (p.Gly1180Ser)
|
rs995313030
|
|
|
NM_152564.5(VPS13B):c.3546C>G (p.Thr1182=)
|
rs2133511066
|
|
|
NM_152564.5(VPS13B):c.3546C>T (p.Thr1182=)
|
rs2133511066
|
|
|
NM_152564.5(VPS13B):c.3551C>G (p.Thr1184Ser)
|
rs2133511087
|
|
|
NM_152564.5(VPS13B):c.3554_3555dup (p.Ala1186Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3561C>G (p.Val1187=)
|
|
|
|
NM_152564.5(VPS13B):c.3564G>T (p.Thr1188=)
|
rs140905518
|
|
|
NM_152564.5(VPS13B):c.3573A>G (p.Lys1191=)
|
|
|
|
NM_152564.5(VPS13B):c.3578T>C (p.Leu1193Pro)
|
rs1160968830
|
|
|
NM_152564.5(VPS13B):c.3578T>G (p.Leu1193Arg)
|
rs1160968830
|
|
|
NM_152564.5(VPS13B):c.3579del (p.Ala1194fs)
|
|
|
|
NM_152564.5(VPS13B):c.3585G>A (p.Thr1195=)
|
|
|
|
NM_152564.5(VPS13B):c.3585G>T (p.Thr1195=)
|
rs749614140
|
|
|
NM_152564.5(VPS13B):c.3587G>T (p.Gly1196Val)
|
rs2133511258
|
|
|
NM_152564.5(VPS13B):c.3588A>G (p.Gly1196=)
|
|
|
|
NM_152564.5(VPS13B):c.3591T>A (p.Pro1197=)
|
|
|
|
NM_152564.5(VPS13B):c.3597A>C (p.Thr1199=)
|
rs1819177226
|
|
|
NM_152564.5(VPS13B):c.3599G>A (p.Arg1200Gln)
|
|
|
|
NM_152564.5(VPS13B):c.3600A>G (p.Arg1200=)
|
rs2133511324
|
|
|
NM_152564.5(VPS13B):c.3606A>G (p.Ser1202=)
|
rs369539973
|
|
|
NM_152564.5(VPS13B):c.3612T>C (p.Val1204=)
|
rs1234050115
|
|
|
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter)
|
rs386834081
|
|
|
NM_152564.5(VPS13B):c.3618T>C (p.Cys1206=)
|
rs386834081
|
|
|
NM_152564.5(VPS13B):c.3628G>T (p.Asp1210Tyr)
|
rs145417421
|
|
|
NM_152564.5(VPS13B):c.3630C>T (p.Asp1210=)
|
|
|
|
NM_152564.5(VPS13B):c.3639A>G (p.Ser1213=)
|
|
|
|
NM_152564.5(VPS13B):c.363A>T (p.Lys121Asn)
|
|
|
|
NM_152564.5(VPS13B):c.3645G>A (p.Glu1215=)
|
rs751086826
|
|
|
NM_152564.5(VPS13B):c.3650A>T (p.Lys1217Ile)
|
rs138000928
|
|
|
NM_152564.5(VPS13B):c.3653G>T (p.Cys1218Phe)
|
|
|
|
NM_152564.5(VPS13B):c.3657T>C (p.Ser1219=)
|
|
|
|
NM_152564.5(VPS13B):c.3660T>C (p.Asn1220=)
|
rs2133511479
|
|
|
NM_152564.5(VPS13B):c.3662C>T (p.Pro1221Leu)
|
rs757707584
|
|
|
NM_152564.5(VPS13B):c.3663C>A (p.Pro1221=)
|
|
|
|
NM_152564.5(VPS13B):c.3663C>T (p.Pro1221=)
|
|
|
|
NM_152564.5(VPS13B):c.3664C>T (p.Gln1222Ter)
|
rs2133511511
|
|
|
NM_152564.5(VPS13B):c.3666+13G>C
|
|
|
|
NM_152564.5(VPS13B):c.3666+13G>T
|
|
|
|
NM_152564.5(VPS13B):c.3666+1G>T
|
rs1554807146
|
|
|
NM_152564.5(VPS13B):c.3666+2T>A
|
rs386834082
|
|
|
NM_152564.5(VPS13B):c.3666+2T>C
|
rs386834082
|
|
|
NM_152564.5(VPS13B):c.3666+8C>T
|
|
|
|
NM_152564.5(VPS13B):c.3666+9A>C
|
|
|
|
NM_152564.5(VPS13B):c.3667-10A>G
|
rs762331645
|
|
|
NM_152564.5(VPS13B):c.3667-13_3667-11del
|
|
|
|
NM_152564.5(VPS13B):c.3667-14dup
|
|
|
|
NM_152564.5(VPS13B):c.3667-16T>C
|
|
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
|
NM_152564.5(VPS13B):c.3667-5C>G
|
rs886062540
|
|
|
NM_152564.5(VPS13B):c.3667-5C>T
|
rs886062540
|
|
|
NM_152564.5(VPS13B):c.3669C>G (p.Val1223=)
|
rs143905569
|
|
|
NM_152564.5(VPS13B):c.3669C>T (p.Val1223=)
|
|
|
|
NM_152564.5(VPS13B):c.3674T>G (p.Leu1225Arg)
|
|
|
|
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter)
|
rs1554814266
|
|
|
NM_152564.5(VPS13B):c.3682G>T (p.Glu1228Ter)
|
|
|
|
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs)
|
rs1554814271
|
|
|
NM_152564.5(VPS13B):c.368G>A (p.Arg123Gln)
|
|
|
|
NM_152564.5(VPS13B):c.3691G>T (p.Asp1231Tyr)
|
rs2133556147
|
|
|
NM_152564.5(VPS13B):c.3695T>C (p.Ile1232Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3697A>G (p.Met1233Val)
|
|
|
|
NM_152564.5(VPS13B):c.36C>T (p.Ser12=)
|
|
|
|
NM_152564.5(VPS13B):c.3701del (p.Asn1234fs)
|
rs1820043726
|
|
|
NM_152564.5(VPS13B):c.3705G>A (p.Lys1235=)
|
|
|
|
NM_152564.5(VPS13B):c.3719T>C (p.Ile1240Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3723G>A (p.Gln1241=)
|
|
|
|
NM_152564.5(VPS13B):c.3726G>A (p.Lys1242=)
|
|
|
|
NM_152564.5(VPS13B):c.372A>G (p.Arg124=)
|
rs752604752
|
|
|
NM_152564.5(VPS13B):c.3734A>G (p.Asn1245Ser)
|
|
|
|
NM_152564.5(VPS13B):c.3738C>G (p.Leu1246=)
|
rs1465822174
|
|
|
NM_152564.5(VPS13B):c.3742C>G (p.Leu1248Val)
|
rs562686924
|
|
|
NM_152564.5(VPS13B):c.3746C>G (p.Ser1249Cys)
|
|
|
|
NM_152564.5(VPS13B):c.3751A>C (p.Thr1251Pro)
|
rs184693266
|
|
|
NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser)
|
rs184693266
|
|
|
NM_152564.5(VPS13B):c.3753C>T (p.Thr1251=)
|
|
|
|
NM_152564.5(VPS13B):c.3759A>G (p.Pro1253=)
|
rs766690954
|
|
|
NM_152564.5(VPS13B):c.3765C>T (p.Thr1255=)
|
|
|
|
NM_152564.5(VPS13B):c.3767T>G (p.Met1256Arg)
|
|
|
|
NM_152564.5(VPS13B):c.3768G>A (p.Met1256Ile)
|
rs1820047097
|
|
|
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter)
|
rs1057516422
|
|
|
NM_152564.5(VPS13B):c.3771A>G (p.Ala1257=)
|
rs2133556390
|
|
|
NM_152564.5(VPS13B):c.3773G>A (p.Gly1258Glu)
|
|
|
|
NM_152564.5(VPS13B):c.3774G>A (p.Gly1258=)
|
rs867311125
|
|
|
NM_152564.5(VPS13B):c.3774G>T (p.Gly1258=)
|
|
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
|
NM_152564.5(VPS13B):c.3789T>C (p.Ser1263=)
|
|
|
|
NM_152564.5(VPS13B):c.3790C>T (p.Pro1264Ser)
|
rs527263178
|
|
|
NM_152564.5(VPS13B):c.3800G>A (p.Ser1267Asn)
|
|
|
|
NM_152564.5(VPS13B):c.3801C>T (p.Ser1267=)
|
|
|
|
NM_152564.5(VPS13B):c.3802A>T (p.Ser1268Cys)
|
rs1820049229
|
|
|
NM_152564.5(VPS13B):c.380A>G (p.Gln127Arg)
|
rs2132431749
|
|
|
NM_152564.5(VPS13B):c.3816T>A (p.Ala1272=)
|
|
|
|
NM_152564.5(VPS13B):c.3816T>C (p.Ala1272=)
|
|
|
|
NM_152564.5(VPS13B):c.3816T>G (p.Ala1272=)
|
|
|
|
NM_152564.5(VPS13B):c.3820C>A (p.Pro1274Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3822A>G (p.Pro1274=)
|
|
|
|
NM_152564.5(VPS13B):c.3828C>T (p.Thr1276=)
|
rs2133556534
|
|
|
NM_152564.5(VPS13B):c.382G>A (p.Ala128Thr)
|
|
|
|
NM_152564.5(VPS13B):c.3831C>T (p.Ser1277=)
|
rs1183777904
|
|
|
NM_152564.5(VPS13B):c.3832A>C (p.Thr1278Pro)
|
rs1820050200
|
|
|
NM_152564.5(VPS13B):c.3839G>T (p.Ser1280Ile)
|
rs1441125749
|
|
|
NM_152564.5(VPS13B):c.3852C>T (p.Asp1284=)
|
|
|
|
NM_152564.5(VPS13B):c.3858G>A (p.Gly1286=)
|
|
|
|
NM_152564.5(VPS13B):c.3860C>G (p.Thr1287Ser)
|
rs966120122
|
|
|
NM_152564.5(VPS13B):c.3861T>G (p.Thr1287=)
|
rs2133556617
|
|
|
NM_152564.5(VPS13B):c.3862A>G (p.Thr1288Ala)
|
rs1820051985
|
|
|
NM_152564.5(VPS13B):c.3870+18dup
|
|
|
|
NM_152564.5(VPS13B):c.3870+1G>A
|
rs764225649
|
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
|
NM_152564.5(VPS13B):c.3870+20C>G
|
|
|
|
NM_152564.5(VPS13B):c.3871-10C>T
|
rs1210475186
|
|
|
NM_152564.5(VPS13B):c.3871-11C>A
|
|
|
|
NM_152564.5(VPS13B):c.3871-11C>G
|
|
|
|
NM_152564.5(VPS13B):c.3871-12T>C
|
|
|
|
NM_152564.5(VPS13B):c.3871-13dup
|
|
|
|
NM_152564.5(VPS13B):c.3871-14T>C
|
|
|
|
NM_152564.5(VPS13B):c.3871-17T>C
|
|
|
|
NM_152564.5(VPS13B):c.3871-5C>A
|
|
|
|
NM_152564.5(VPS13B):c.3871-7A>G
|
rs1425649545
|
|
|
NM_152564.5(VPS13B):c.3871G>A (p.Gly1291Arg)
|
rs1821241143
|
|
|
NM_152564.5(VPS13B):c.3874G>A (p.Asp1292Asn)
|
|
|
|
NM_152564.5(VPS13B):c.3880A>G (p.Ile1294Val)
|
|
|
|
NM_152564.5(VPS13B):c.3881_3882del (p.Ile1294fs)
|
rs2133609624
|
|
|
NM_152564.5(VPS13B):c.3882A>G (p.Ile1294Met)
|
rs957432577
|
|
|
NM_152564.5(VPS13B):c.3891T>A (p.Gly1297=)
|
rs1402449887
|
|
|
NM_152564.5(VPS13B):c.3891T>G (p.Gly1297=)
|
rs1402449887
|
|
|
NM_152564.5(VPS13B):c.3897A>G (p.Glu1299=)
|
|
|
|
NM_152564.5(VPS13B):c.3900A>G (p.Ser1300=)
|
rs2133609681
|
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
|
NM_152564.5(VPS13B):c.3903A>G (p.Pro1301=)
|
|
|
|
NM_152564.5(VPS13B):c.3909A>G (p.Ser1303=)
|
|
|
|
NM_152564.5(VPS13B):c.3937A>C (p.Ser1313Arg)
|
|
|
|
NM_152564.5(VPS13B):c.3938G>A (p.Ser1313Asn)
|
|
|
|
NM_152564.5(VPS13B):c.3957T>A (p.Ser1319Arg)
|
rs1821244952
|
|
|
NM_152564.5(VPS13B):c.3959G>A (p.Gly1320Glu)
|
|
|
|
NM_152564.5(VPS13B):c.3960A>G (p.Gly1320=)
|
|
|
|
NM_152564.5(VPS13B):c.3961C>T (p.Arg1321Cys)
|
|
|
|
NM_152564.5(VPS13B):c.3972A>G (p.Leu1324=)
|
|
|
|
NM_152564.5(VPS13B):c.3974G>A (p.Trp1325Ter)
|
rs2133609831
|
|
|
NM_152564.5(VPS13B):c.3981G>A (p.Gln1327=)
|
rs1588442639
|
|
|
NM_152564.5(VPS13B):c.3987G>A (p.Val1329=)
|
|
|
|
NM_152564.5(VPS13B):c.3993C>G (p.Pro1331=)
|
|
|
|
NM_152564.5(VPS13B):c.3999del (p.Thr1334fs)
|
|
|
|
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)
|
rs1060499779
|
|
|
NM_152564.5(VPS13B):c.4006_4007insTT (p.Lys1336fs)
|
|
|
|
NM_152564.5(VPS13B):c.4023T>C (p.Asp1341=)
|
|
|
|
NM_152564.5(VPS13B):c.4026T>C (p.Pro1342=)
|
|
|
|
NM_152564.5(VPS13B):c.4032T>G (p.Asn1344Lys)
|
|
|
|
NM_152564.5(VPS13B):c.4034A>G (p.Lys1345Arg)
|
|
|
|
NM_152564.5(VPS13B):c.4038C>T (p.Gly1346=)
|
|
|
|
NM_152564.5(VPS13B):c.4042+11C>G
|
|
|
|
NM_152564.5(VPS13B):c.4042+15T>C
|
rs2133609969
|
|
|
NM_152564.5(VPS13B):c.4042+20_4042+23del
|
|
|
|
NM_152564.5(VPS13B):c.4042+2T>C
|
rs1554822819
|
|
|
NM_152564.5(VPS13B):c.4043-20C>T
|
|
|
|
NM_152564.5(VPS13B):c.4043-4G>A
|
|
|
|
NM_152564.5(VPS13B):c.4043-9T>C
|
|
|
|
NM_152564.5(VPS13B):c.4047T>G (p.Val1349=)
|
rs1004879836
|
|
|
NM_152564.5(VPS13B):c.404dup (p.Leu135fs)
|
rs386834083
|
|
|
NM_152564.5(VPS13B):c.4050_4053del (p.Cys1350fs)
|
rs1821315647
|
|
|
NM_152564.5(VPS13B):c.4053G>C (p.Met1351Ile)
|
rs1821315903
|
|
|
NM_152564.5(VPS13B):c.4056C>T (p.Val1352=)
|
|
|
|
NM_152564.5(VPS13B):c.405A>G (p.Leu135=)
|
rs2132431834
|
|
|
NM_152564.5(VPS13B):c.4060G>A (p.Glu1354Lys)
|
rs2133613311
|
|
|
NM_152564.5(VPS13B):c.4065A>G (p.Leu1355=)
|
rs755818465
|
|
|
NM_152564.5(VPS13B):c.4076G>A (p.Ser1359Asn)
|
|
|
|
NM_152564.5(VPS13B):c.4077T>C (p.Ser1359=)
|
|
|
|
NM_152564.5(VPS13B):c.4079C>T (p.Ala1360Val)
|
|
|
|
NM_152564.5(VPS13B):c.4080T>A (p.Ala1360=)
|
rs758803331
|
|
|
NM_152564.5(VPS13B):c.4080T>C (p.Ala1360=)
|
rs758803331
|
|
|
NM_152564.5(VPS13B):c.4083C>T (p.Ser1361=)
|
|
|
|
NM_152564.5(VPS13B):c.4084A>G (p.Ile1362Val)
|
rs1230385293
|
|
|
NM_152564.5(VPS13B):c.4113G>A (p.Val1371=)
|
rs769085208
|
|
|
NM_152564.5(VPS13B):c.4113G>T (p.Val1371=)
|
rs769085208
|
|
|
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
|
|
|
|
NM_152564.5(VPS13B):c.412+18C>A
|
|
|
|
NM_152564.5(VPS13B):c.412+1G>A
|
rs1057517295
|
|
|
NM_152564.5(VPS13B):c.412+1G>C
|
rs1057517295
|
|
|
NM_152564.5(VPS13B):c.412+1G>T
|
rs1057517295
|
|
|
NM_152564.5(VPS13B):c.412+20A>G
|
|
|
|
NM_152564.5(VPS13B):c.412+2T>C
|
|
|
|
NM_152564.5(VPS13B):c.413-10T>C
|
rs897984303
|
|
|
NM_152564.5(VPS13B):c.413-11del
|
|
|
|
NM_152564.5(VPS13B):c.413-12del
|
|
|
|
NM_152564.5(VPS13B):c.413-12dup
|
|
|
|
NM_152564.5(VPS13B):c.413-15T>A
|
|
|
|
NM_152564.5(VPS13B):c.413-18T>C
|
|
|
|
NM_152564.5(VPS13B):c.413-19C>A
|
|
|
|
NM_152564.5(VPS13B):c.413-19_413-18del
|
|
|
|
NM_152564.5(VPS13B):c.413-19del
|
|
|
|
NM_152564.5(VPS13B):c.413-2A>G
|
rs2132453775
|
|
|
NM_152564.5(VPS13B):c.413-5T>C
|
rs1846839473
|
|
|
NM_152564.5(VPS13B):c.413-9A>G
|
rs2132453724
|
|
|
NM_152564.5(VPS13B):c.4130G>T (p.Ser1377Ile)
|
rs2133613470
|
|
|
NM_152564.5(VPS13B):c.4136A>G (p.Asn1379Ser)
|
|
|
|
NM_152564.5(VPS13B):c.4137T>C (p.Asn1379=)
|
rs1821319108
|
|
|
NM_152564.5(VPS13B):c.4147T>C (p.Tyr1383His)
|
|
|
|
NM_152564.5(VPS13B):c.4149T>C (p.Tyr1383=)
|
|
|
|
NM_152564.5(VPS13B):c.4151G>T (p.Arg1384Ile)
|
|
|
|
NM_152564.5(VPS13B):c.4153A>G (p.Ser1385Gly)
|
|
|
|
NM_152564.5(VPS13B):c.4157+15A>C
|
|
|
|
NM_152564.5(VPS13B):c.4157+15A>G
|
|
|
|
NM_152564.5(VPS13B):c.4157+15_4157+21del
|
|
|
|
NM_152564.5(VPS13B):c.4157+16T>C
|
rs1307808618
|
|
|
NM_152564.5(VPS13B):c.4157+19A>T
|
|
|
|
NM_152564.5(VPS13B):c.4157+2T>G
|
|
|
|
NM_152564.5(VPS13B):c.4157+9T>C
|
|
|
|
NM_152564.5(VPS13B):c.4158-16A>C
|
rs1554824637
|
|
|
NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=)
|
rs1554824647
|
|
|
NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr)
|
rs1554824649
|
|
|
NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala)
|
rs1554824675
|
|
|
NM_152564.5(VPS13B):c.420G>A (p.Val140=)
|
rs1379154568
|
|
|
NM_152564.5(VPS13B):c.420G>T (p.Val140=)
|
rs1379154568
|
|
|
NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs)
|
rs1554824678
|
|
|
NM_152564.5(VPS13B):c.4224+1G>C
|
rs376982982
|
|
|
NM_152564.5(VPS13B):c.4224+548T>G
|
|
|
|
NM_152564.5(VPS13B):c.4224+556A>G
|
rs1554824890
|
|
|
NM_152564.5(VPS13B):c.4224+620_4224+622del
|
|
|
|
NM_152564.5(VPS13B):c.4224+664A>G
|
rs1821583064
|
|
|
NM_152564.5(VPS13B):c.4224+713G>T
|
|
|
|
NM_152564.5(VPS13B):c.4224+715A>C
|
|
|
|
NM_152564.5(VPS13B):c.4224+716A>G
|
|
|
|
NM_152564.5(VPS13B):c.4224+719A>G
|
|
|
|
NM_152564.5(VPS13B):c.4224+720C>T
|
|
|
|
NM_152564.5(VPS13B):c.4224+725A>T
|
rs1554825046
|
|
|
NM_152564.5(VPS13B):c.4225-1G>A
|
rs2133637043
|
|
|
NM_152564.5(VPS13B):c.4225-9T>C
|
|
|
|
NM_152564.5(VPS13B):c.4230T>C (p.Thr1410=)
|
|
|
|
NM_152564.5(VPS13B):c.423G>A (p.Gln141=)
|
|
|
|
NM_152564.5(VPS13B):c.4241T>C (p.Leu1414Pro)
|
|
|
|
NM_152564.5(VPS13B):c.4245T>C (p.Asp1415=)
|
|
|
|
NM_152564.5(VPS13B):c.4245_4247dup (p.Gly1416_Thr1417insGly)
|
|
|
|
NM_152564.5(VPS13B):c.4248C>T (p.Gly1416=)
|
|
|
|
NM_152564.5(VPS13B):c.424A>G (p.Ser142Gly)
|
rs2132453819
|
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
|
NM_152564.5(VPS13B):c.4256A>G (p.Gln1419Arg)
|
rs1189900037
|
|
|
NM_152564.5(VPS13B):c.4259A>G (p.Gln1420Arg)
|
|
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
|
NM_152564.5(VPS13B):c.4261C>T (p.His1421Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.4262A>T (p.His1421Leu)
|
rs371961155
|
|
|
NM_152564.5(VPS13B):c.4267_4273del (p.Phe1423fs)
|
|
|
|
NM_152564.5(VPS13B):c.4272C>A (p.Leu1424=)
|
|
|
|
NM_152564.5(VPS13B):c.4276C>T (p.Leu1426=)
|
|
|
|
NM_152564.5(VPS13B):c.4278G>A (p.Leu1426=)
|
rs2133637215
|
|
|
NM_152564.5(VPS13B):c.4281A>G (p.Thr1427=)
|
rs2133637227
|
|
|
NM_152564.5(VPS13B):c.4282T>C (p.Tyr1428His)
|
rs2133637231
|
|
|
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs)
|
rs2133637251
|
|
|
NM_152564.5(VPS13B):c.4293T>G (p.Ala1431=)
|
rs777067859
|
|
|
NM_152564.5(VPS13B):c.4296A>G (p.Val1432=)
|
|
|
|
NM_152564.5(VPS13B):c.4302A>G (p.Lys1434=)
|
|
|
|
NM_152564.5(VPS13B):c.4302_4304dup (p.Lys1434dup)
|
rs1297058561
|
|
|
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
|
|
|
|
NM_152564.5(VPS13B):c.4305T>C (p.Asn1435=)
|
rs2133637292
|
|
|
NM_152564.5(VPS13B):c.4309C>T (p.Arg1437Cys)
|
|
|
|
NM_152564.5(VPS13B):c.4310G>T (p.Arg1437Leu)
|
rs750810791
|
|
|
NM_152564.5(VPS13B):c.4317G>A (p.Lys1439=)
|
|
|
|
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4320A>G (p.Leu1440=)
|
rs2133637329
|
|
|
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs)
|
rs386834085
|
|
|
NM_152564.5(VPS13B):c.4334A>T (p.Glu1445Val)
|
rs2133637370
|
|
|
NM_152564.5(VPS13B):c.4335G>A (p.Glu1445=)
|
rs781336187
|
|
|
NM_152564.5(VPS13B):c.4336C>A (p.Arg1446=)
|
rs386834086
|
|
|
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
|
|
|
|
NM_152564.5(VPS13B):c.4348C>T (p.His1450Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.4359T>C (p.Ser1453=)
|
rs1187402533
|
|
|
NM_152564.5(VPS13B):c.4362A>G (p.Glu1454=)
|
rs775013418
|
|
|
NM_152564.5(VPS13B):c.4362A>T (p.Glu1454Asp)
|
|
|
|
NM_152564.5(VPS13B):c.4365C>G (p.Gly1455=)
|
rs1287791786
|
|
|
NM_152564.5(VPS13B):c.4377T>C (p.Gly1459=)
|
rs773536381
|
|
|
NM_152564.5(VPS13B):c.4379CTC[1] (p.Pro1461del)
|
|
|
|
NM_152564.5(VPS13B):c.4381C>T (p.Pro1461Ser)
|
|
|
|
NM_152564.5(VPS13B):c.4385A>G (p.His1462Arg)
|
|
|
|
NM_152564.5(VPS13B):c.4389T>C (p.Phe1463=)
|
rs766779948
|
|
|
NM_152564.5(VPS13B):c.438A>G (p.Arg146=)
|
|
|
|
NM_152564.5(VPS13B):c.4394A>T (p.His1465Leu)
|
rs1588450228
|
|
|
NM_152564.5(VPS13B):c.4395T>A (p.His1465Gln)
|
|
|
|
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs)
|
rs386834087
|
|
|
NM_152564.5(VPS13B):c.4401T>C (p.Ile1467=)
|
|
|
|
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)
|
rs386834088
|
|
|
NM_152564.5(VPS13B):c.4413A>G (p.Ala1471=)
|
|
|
|
NM_152564.5(VPS13B):c.4413del (p.Gln1472fs)
|
|
|
|
NM_152564.5(VPS13B):c.4420T>G (p.Phe1474Val)
|
rs1821776603
|
|
|
NM_152564.5(VPS13B):c.4424_4429del (p.Asp1475_Ile1476del)
|
rs1554826499
|
|
|
NM_152564.5(VPS13B):c.4434T>C (p.Leu1478=)
|
|
|
|
NM_152564.5(VPS13B):c.4440T>C (p.Phe1480=)
|
|
|
|
NM_152564.5(VPS13B):c.4441C>T (p.Pro1481Ser)
|
|
|
|
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4446A>G (p.Leu1482=)
|
rs2133637669
|
|
|
NM_152564.5(VPS13B):c.4464T>C (p.Ser1488=)
|
rs2133637727
|
|
|
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4485A>G (p.Pro1495=)
|
|
|
|
NM_152564.5(VPS13B):c.4489A>G (p.Thr1497Ala)
|
rs1374233787
|
|
|
NM_152564.5(VPS13B):c.4492C>G (p.Gln1498Glu)
|
|
|
|
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs)
|
rs386834089
|
|
|
NM_152564.5(VPS13B):c.4508A>G (p.Lys1503Arg)
|
|
|
|
NM_152564.5(VPS13B):c.4509A>G (p.Lys1503=)
|
|
|
|
NM_152564.5(VPS13B):c.4512T>C (p.Ser1504=)
|
|
|
|
NM_152564.5(VPS13B):c.4514C>T (p.Pro1505Leu)
|
|
|
|
NM_152564.5(VPS13B):c.4518T>G (p.Gly1506=)
|
|
|
|
NM_152564.5(VPS13B):c.4519C>A (p.Gln1507Lys)
|
rs1178400279
|
|
|
NM_152564.5(VPS13B):c.451G>A (p.Val151Ile)
|
rs772244398
|
|
|
NM_152564.5(VPS13B):c.4526T>C (p.Met1509Thr)
|
|
|
|
NM_152564.5(VPS13B):c.4528A>C (p.Arg1510=)
|
|
|
|
NM_152564.5(VPS13B):c.4529_4535dup (p.His1512fs)
|
rs2133637853
|
|
|
NM_152564.5(VPS13B):c.4530G>A (p.Arg1510=)
|
rs2133637865
|
|
|
NM_152564.5(VPS13B):c.4533C>T (p.Thr1511=)
|
rs2133637873
|
|
|
NM_152564.5(VPS13B):c.4535A>G (p.His1512Arg)
|
rs1821780332
|
|
|
NM_152564.5(VPS13B):c.4536T>C (p.His1512=)
|
rs2133637886
|
|
|
NM_152564.5(VPS13B):c.4538C>A (p.Thr1513Lys)
|
|
|
|
NM_152564.5(VPS13B):c.4539A>G (p.Thr1513=)
|
|
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
|
NM_152564.5(VPS13B):c.4540C>T (p.Leu1514=)
|
|
|
|
NM_152564.5(VPS13B):c.4545del (p.Ser1516fs)
|
rs1057518939
|
|
|
NM_152564.5(VPS13B):c.4548C>A (p.Ser1516=)
|
rs1821781006
|
|
|
NM_152564.5(VPS13B):c.4548C>T (p.Ser1516=)
|
|
|
|
NM_152564.5(VPS13B):c.4550G>A (p.Arg1517His)
|
|
|
|
NM_152564.5(VPS13B):c.4551C>T (p.Arg1517=)
|
rs150376603
|
|
|
NM_152564.5(VPS13B):c.4552A>C (p.Asn1518His)
|
|
|
|
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4558C>T (p.Pro1520Ser)
|
rs1821781864
|
|
|
NM_152564.5(VPS13B):c.4560T>C (p.Pro1520=)
|
rs2133638000
|
|
|
NM_152564.5(VPS13B):c.4569T>C (p.Tyr1523=)
|
rs1361356353
|
|
|
NM_152564.5(VPS13B):c.456C>T (p.Asn152=)
|
|
|
|
NM_152564.5(VPS13B):c.4584A>G (p.Val1528=)
|
rs1443868978
|
|
|
NM_152564.5(VPS13B):c.4596T>G (p.Phe1532Leu)
|
rs1198827619
|
|
|
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs)
|
rs1554826615
|
|
|
NM_152564.5(VPS13B):c.4615A>G (p.Met1539Val)
|
rs2133638135
|
|
|
NM_152564.5(VPS13B):c.4616T>C (p.Met1539Thr)
|
rs1821784819
|
|
|
NM_152564.5(VPS13B):c.4620G>A (p.Gln1540=)
|
|
|
|
NM_152564.5(VPS13B):c.4628T>C (p.Val1543Ala)
|
|
|
|
NM_152564.5(VPS13B):c.4631A>G (p.Glu1544Gly)
|
|
|
|
NM_152564.5(VPS13B):c.4632A>C (p.Glu1544Asp)
|
|
|
|
NM_152564.5(VPS13B):c.4633+13G>T
|
rs771515364
|
|
|
NM_152564.5(VPS13B):c.4633+14A>T
|
|
|
|
NM_152564.5(VPS13B):c.4633+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.4633+22del
|
rs756149542
|
|
|
NM_152564.5(VPS13B):c.4633+22dup
|
rs756149542
|
|
|
NM_152564.5(VPS13B):c.4633+4T>C
|
rs1384867213
|
|
|
NM_152564.5(VPS13B):c.4633+7T>A
|
|
|
|
NM_152564.5(VPS13B):c.4633+7T>G
|
rs1821787119
|
|
|
NM_152564.5(VPS13B):c.4634-10T>C
|
rs2133668051
|
|
|
NM_152564.5(VPS13B):c.4634-18del
|
rs2133668025
|
|
|
NM_152564.5(VPS13B):c.4634-2A>G
|
rs2133668102
|
|
|
NM_152564.5(VPS13B):c.4634-9T>C
|
rs2133668059
|
|
|
NM_152564.5(VPS13B):c.4634C>G (p.Ala1545Gly)
|
rs1319725217
|
|
|
NM_152564.5(VPS13B):c.4640A>G (p.Gln1547Arg)
|
rs2133668123
|
|
|
NM_152564.5(VPS13B):c.4641G>A (p.Gln1547=)
|
|
|
|
NM_152564.5(VPS13B):c.4646C>G (p.Ala1549Gly)
|
|
|
|
NM_152564.5(VPS13B):c.4647A>G (p.Ala1549=)
|
|
|
|
NM_152564.5(VPS13B):c.4647A>T (p.Ala1549=)
|
rs1822351966
|
|
|
NM_152564.5(VPS13B):c.4651G>T (p.Glu1551Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4663G>T (p.Val1555Phe)
|
rs1822352324
|
|
|
NM_152564.5(VPS13B):c.4665T>G (p.Val1555=)
|
|
|
|
NM_152564.5(VPS13B):c.4671G>A (p.Lys1557=)
|
|
|
|
NM_152564.5(VPS13B):c.4674T>C (p.Ile1558=)
|
rs2133668264
|
|
|
NM_152564.5(VPS13B):c.4677C>T (p.Gly1559=)
|
|
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
|
NM_152564.5(VPS13B):c.4687A>G (p.Met1563Val)
|
rs886062541
|
|
|
NM_152564.5(VPS13B):c.468_471del (p.Asn157fs)
|
rs1588038825
|
|
|
NM_152564.5(VPS13B):c.4690G>C (p.Ala1564Pro)
|
|
|
|
NM_152564.5(VPS13B):c.4692T>C (p.Ala1564=)
|
rs1219782050
|
|
|
NM_152564.5(VPS13B):c.4695C>T (p.Pro1565=)
|
rs2133668316
|
|
|
NM_152564.5(VPS13B):c.4698G>A (p.Gln1566=)
|
|
|
|
NM_152564.5(VPS13B):c.4701T>G (p.Ala1567=)
|
|
|
|
NM_152564.5(VPS13B):c.4704C>T (p.Asp1568=)
|
rs1030235559
|
|
|
NM_152564.5(VPS13B):c.4707T>C (p.Asn1569=)
|
|
|
|
NM_152564.5(VPS13B):c.4708C>G (p.Pro1570Ala)
|
rs1822354960
|
|
|
NM_152564.5(VPS13B):c.4716C>G (p.Gly1572=)
|
|
|
|
NM_152564.5(VPS13B):c.4717A>T (p.Arg1573Ter)
|
rs1822355402
|
|
|
NM_152564.5(VPS13B):c.4723G>A (p.Val1575Ile)
|
|
|
|
NM_152564.5(VPS13B):c.4728T>C (p.Leu1576=)
|
rs1158360713
|
|
|
NM_152564.5(VPS13B):c.4730G>T (p.Arg1577Met)
|
|
|
|
NM_152564.5(VPS13B):c.4740T>C (p.Ile1580=)
|
rs1402302415
|
|
|
NM_152564.5(VPS13B):c.4745+10T>C
|
|
|
|
NM_152564.5(VPS13B):c.4745+18T>A
|
|
|
|
NM_152564.5(VPS13B):c.4745+18T>C
|
|
|
|
NM_152564.5(VPS13B):c.4745+1G>C
|
|
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
|
NM_152564.5(VPS13B):c.4745+7T>G
|
|
|
|
NM_152564.5(VPS13B):c.4745+9A>G
|
|
|
|
NM_152564.5(VPS13B):c.4746-13G>A
|
rs561446691
|
|
|
NM_152564.5(VPS13B):c.4746-17T>A
|
|
|
|
NM_152564.5(VPS13B):c.4746-17T>C
|
|
|
|
NM_152564.5(VPS13B):c.4746-18T>C
|
|
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
|
NM_152564.5(VPS13B):c.4746-2A>T
|
rs1554843814
|
|
|
NM_152564.5(VPS13B):c.4746-3794A>C
|
|
|
|
NM_152564.5(VPS13B):c.4749A>C (p.Arg1583Ser)
|
rs1824571515
|
|
|
NM_152564.5(VPS13B):c.4752C>T (p.Ala1584=)
|
|
|
|
NM_152564.5(VPS13B):c.4755G>A (p.Leu1585=)
|
|
|
|
NM_152564.5(VPS13B):c.4756A>C (p.Asn1586His)
|
rs1824571709
|
|
|
NM_152564.5(VPS13B):c.4758C>T (p.Asn1586=)
|
rs1452358488
|
|
|
NM_152564.5(VPS13B):c.4761A>G (p.Leu1587=)
|
|
|
|
NM_152564.5(VPS13B):c.4767T>C (p.Ile1589=)
|
|
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
|
NM_152564.5(VPS13B):c.4782A>T (p.Gly1594=)
|
rs2133764676
|
|
|
NM_152564.5(VPS13B):c.4791C>A (p.Ile1597=)
|
|
|
|
NM_152564.5(VPS13B):c.4801C>G (p.Gln1601Glu)
|
rs1241114776
|
|
|
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter)
|
rs180177359
|
|
|
NM_152564.5(VPS13B):c.4806C>T (p.Tyr1602=)
|
rs1355209169
|
|
|
NM_152564.5(VPS13B):c.4807C>T (p.Gln1603Ter)
|
rs2133764725
|
|
|
NM_152564.5(VPS13B):c.480A>G (p.Leu160=)
|
|
|
|
NM_152564.5(VPS13B):c.4812A>C (p.Ile1604=)
|
rs1824574633
|
|
|
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter)
|
rs1588491546
|
|
|
NM_152564.5(VPS13B):c.4821G>A (p.Gln1607=)
|
rs757495847
|
|
|
NM_152564.5(VPS13B):c.4827C>T (p.Ile1609=)
|
rs2133764753
|
|
|
NM_152564.5(VPS13B):c.4830T>C (p.Asn1610=)
|
rs1824575375
|
|
|
NM_152564.5(VPS13B):c.4831A>G (p.Ile1611Val)
|
rs1824575477
|
|
|
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)
|
|
|
|
NM_152564.5(VPS13B):c.4836T>C (p.Gly1612=)
|
rs2133764786
|
|
|
NM_152564.5(VPS13B):c.4837A>G (p.Thr1613Ala)
|
|
|
|
NM_152564.5(VPS13B):c.483del (p.Lys161fs)
|
rs2132453991
|
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
|
NM_152564.5(VPS13B):c.4848G>C (p.Trp1616Cys)
|
rs180177360
|
|
|
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser)
|
rs563705133
|
|
|
NM_152564.5(VPS13B):c.4862C>T (p.Pro1621Leu)
|
rs1824576572
|
|
|
NM_152564.5(VPS13B):c.4866G>A (p.Glu1622=)
|
rs779914034
|
|
|
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4868A>C (p.Lys1623Thr)
|
rs1824576911
|
|
|
NM_152564.5(VPS13B):c.4868A>T (p.Lys1623Met)
|
|
|
|
NM_152564.5(VPS13B):c.4870G>A (p.Glu1624Lys)
|
|
|
|
NM_152564.5(VPS13B):c.4871A>G (p.Glu1624Gly)
|
|
|
|
NM_152564.5(VPS13B):c.4872A>G (p.Glu1624=)
|
|
|
|
NM_152564.5(VPS13B):c.4874G>T (p.Ser1625Ile)
|
rs1014154776
|
|
|
NM_152564.5(VPS13B):c.4875T>C (p.Ser1625=)
|
|
|
|
NM_152564.5(VPS13B):c.4876_4877del (p.Val1626fs)
|
rs1588491595
|
|
|
NM_152564.5(VPS13B):c.4878C>T (p.Val1626=)
|
rs1294342896
|
|
|
NM_152564.5(VPS13B):c.4881A>G (p.Ser1627=)
|
rs2133764883
|
|
|
NM_152564.5(VPS13B):c.4885G>A (p.Gly1629Arg)
|
|
|
|
NM_152564.5(VPS13B):c.4885G>C (p.Gly1629Arg)
|
rs776600965
|
|
|
NM_152564.5(VPS13B):c.4886G>C (p.Gly1629Ala)
|
|
|
|
NM_152564.5(VPS13B):c.4887G>A (p.Gly1629=)
|
rs747778744
|
|
|
NM_152564.5(VPS13B):c.4887G>T (p.Gly1629=)
|
rs747778744
|
|
|
NM_152564.5(VPS13B):c.4891G>A (p.Val1631Ile)
|
|
|
|
NM_152564.5(VPS13B):c.4893A>G (p.Val1631=)
|
|
|
|
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs)
|
rs1554843942
|
|
|
NM_152564.5(VPS13B):c.4895C>T (p.Thr1632Ile)
|
rs2133764957
|
|
|
NM_152564.5(VPS13B):c.4900A>G (p.Thr1634Ala)
|
|
|
|
NM_152564.5(VPS13B):c.4903G>T (p.Glu1635Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4926C>G (p.Ala1642=)
|
|
|
|
NM_152564.5(VPS13B):c.4929T>C (p.Leu1643=)
|
|
|
|
NM_152564.5(VPS13B):c.4934G>A (p.Trp1645Ter)
|
|
|
|
NM_152564.5(VPS13B):c.4944C>T (p.Ala1648=)
|
|
|
|
NM_152564.5(VPS13B):c.4946_4947delinsAA (p.Ser1649Lys)
|
rs1824583703
|
|
|
NM_152564.5(VPS13B):c.4947C>T (p.Ser1649=)
|
rs985853073
|
|
|
NM_152564.5(VPS13B):c.4949+10G>T
|
rs1824585165
|
|
|
NM_152564.5(VPS13B):c.4949+12T>C
|
|
|
|
NM_152564.5(VPS13B):c.4949+14G>A
|
|
|
|
NM_152564.5(VPS13B):c.4949+2T>G
|
|
|
|
NM_152564.5(VPS13B):c.4949+3A>T
|
rs1824584392
|
|
|
NM_152564.5(VPS13B):c.4949+6_4949+19del
|
|
|
|
NM_152564.5(VPS13B):c.4950-10_4950-9insG
|
|
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
|
NM_152564.5(VPS13B):c.4950-20T>C
|
|
|
|
NM_152564.5(VPS13B):c.4950-29G>A
|
|
|
|
NM_152564.5(VPS13B):c.4950-2A>G
|
|
|
|
NM_152564.5(VPS13B):c.4950-2dup
|
rs1554852944
|
|
|
NM_152564.5(VPS13B):c.4954C>T (p.Arg1652Trp)
|
|
|
|
NM_152564.5(VPS13B):c.4956G>T (p.Arg1652=)
|
|
|
|
NM_152564.5(VPS13B):c.4957C>T (p.Arg1653Trp)
|
|
|
|
NM_152564.5(VPS13B):c.4959G>A (p.Arg1653=)
|
rs182877520
|
|
|
NM_152564.5(VPS13B):c.4959G>T (p.Arg1653=)
|
rs182877520
|
|
|
NM_152564.5(VPS13B):c.4959del (p.His1654fs)
|
rs1166814614
|
|
|
NM_152564.5(VPS13B):c.4968A>G (p.Glu1656=)
|
rs2133808425
|
|
|
NM_152564.5(VPS13B):c.4970G>A (p.Arg1657Lys)
|
rs903367949
|
|
|
NM_152564.5(VPS13B):c.4971_4973del (p.Arg1658del)
|
rs770497996
|
|
|
NM_152564.5(VPS13B):c.4974A>G (p.Arg1658=)
|
rs2133808450
|
|
|
NM_152564.5(VPS13B):c.4975G>A (p.Ala1659Thr)
|
|
|
|
NM_152564.5(VPS13B):c.4981T>C (p.Leu1661=)
|
rs1825743811
|
|
|
NM_152564.5(VPS13B):c.4989C>G (p.Pro1663=)
|
|
|
|
NM_152564.5(VPS13B):c.4989C>T (p.Pro1663=)
|
rs142380266
|
|
|
NM_152564.5(VPS13B):c.4995G>A (p.Leu1665=)
|
|
|
|
NM_152564.5(VPS13B):c.4997del (p.Thr1666fs)
|
rs2133808512
|
|
|
NM_152564.5(VPS13B):c.5001T>A (p.Asp1667Glu)
|
|
|
|
NM_152564.5(VPS13B):c.5001T>C (p.Asp1667=)
|
rs527950476
|
|
|
NM_152564.5(VPS13B):c.5010C>T (p.Val1670=)
|
rs2133808532
|
|
|
NM_152564.5(VPS13B):c.5022A>G (p.Gly1674=)
|
rs1270977455
|
|
|
NM_152564.5(VPS13B):c.5024C>T (p.Ala1675Val)
|
|
|
|
NM_152564.5(VPS13B):c.5025A>G (p.Ala1675=)
|
rs2133808577
|
|
|
NM_152564.5(VPS13B):c.5032G>A (p.Val1678Ile)
|
|
|
|
NM_152564.5(VPS13B):c.5043C>T (p.Thr1681=)
|
|
|
|
NM_152564.5(VPS13B):c.504C>A (p.Val168=)
|
|
|
|
NM_152564.5(VPS13B):c.504C>T (p.Val168=)
|
rs1417733025
|
|
|
NM_152564.5(VPS13B):c.5050G>A (p.Val1684Ile)
|
|
|
|
NM_152564.5(VPS13B):c.5052T>C (p.Val1684=)
|
|
|
|
NM_152564.5(VPS13B):c.505C>T (p.Leu169Phe)
|
rs376498106
|
|
|
NM_152564.5(VPS13B):c.5064T>A (p.Asn1688Lys)
|
|
|
|
NM_152564.5(VPS13B):c.5065T>A (p.Leu1689Met)
|
|
|
|
NM_152564.5(VPS13B):c.5075A>G (p.Glu1692Gly)
|
rs1588510428
|
|
|
NM_152564.5(VPS13B):c.5076+10T>C
|
rs2133808701
|
|
|
NM_152564.5(VPS13B):c.5076+11A>C
|
|
|
|
NM_152564.5(VPS13B):c.5076+12A>G
|
|
|
|
NM_152564.5(VPS13B):c.5076+13T>C
|
|
|
|
NM_152564.5(VPS13B):c.5076+1G>C
|
|
|
|
NM_152564.5(VPS13B):c.5076+1G>T
|
|
|
|
NM_152564.5(VPS13B):c.5076+20T>A
|
|
|
|
NM_152564.5(VPS13B):c.5076+20T>C
|
|
|
|
NM_152564.5(VPS13B):c.5076+22del
|
|
|
|
NM_152564.5(VPS13B):c.5076+3T>C
|
rs2133808668
|
|
|
NM_152564.5(VPS13B):c.5076+8C>A
|
|
|
|
NM_152564.5(VPS13B):c.5077-12T>C
|
|
|
|
NM_152564.5(VPS13B):c.5077-15C>T
|
|
|
|
NM_152564.5(VPS13B):c.5077-18C>T
|
|
|
|
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
|
|
|
|
NM_152564.5(VPS13B):c.5077-6C>G
|
|
|
|
NM_152564.5(VPS13B):c.5077-6C>T
|
|
|
|
NM_152564.5(VPS13B):c.5077-8del
|
|
|
|
NM_152564.5(VPS13B):c.507T>C (p.Leu169=)
|
|
|
|
NM_152564.5(VPS13B):c.5085A>G (p.Leu1695=)
|
|
|
|
NM_152564.5(VPS13B):c.5091_5092del (p.Cys1697fs)
|
|
|
|
NM_152564.5(VPS13B):c.5094C>A (p.Gly1698=)
|
rs2133811965
|
|
|
NM_152564.5(VPS13B):c.5095C>T (p.His1699Tyr)
|
rs765021203
|
|
|
NM_152564.5(VPS13B):c.5106A>G (p.Glu1702=)
|
|
|
|
NM_152564.5(VPS13B):c.5111A>G (p.Asn1704Ser)
|
rs1825833646
|
|
|
NM_152564.5(VPS13B):c.5112T>C (p.Asn1704=)
|
|
|
|
NM_152564.5(VPS13B):c.5124C>T (p.Asn1708=)
|
|
|
|
NM_152564.5(VPS13B):c.5126T>C (p.Leu1709Pro)
|
rs2133812014
|
|
|
NM_152564.5(VPS13B):c.5139A>C (p.Leu1713=)
|
|
|
|
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del)
|
rs180177362
|
|
|
NM_152564.5(VPS13B):c.5141G>A (p.Ser1714Asn)
|
|
|
|
NM_152564.5(VPS13B):c.5145G>A (p.Val1715=)
|
|
|
|
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs)
|
rs2133812056
|
|
|
NM_152564.5(VPS13B):c.5151A>G (p.Gln1717=)
|
|
|
|
NM_152564.5(VPS13B):c.5153_5154insC (p.Gln1719fs)
|
rs1563806122
|
|
|
NM_152564.5(VPS13B):c.5154T>C (p.Val1718=)
|
rs1235245438
|
|
|
NM_152564.5(VPS13B):c.5154T>G (p.Val1718=)
|
rs1235245438
|
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
|
NM_152564.5(VPS13B):c.5160C>G (p.Leu1720=)
|
|
|
|
NM_152564.5(VPS13B):c.5163dup (p.His1722fs)
|
|
|
|
NM_152564.5(VPS13B):c.5165A>G (p.His1722Arg)
|
|
|
|
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs)
|
rs1554853676
|
|
|
NM_152564.5(VPS13B):c.516T>C (p.Asn172=)
|
|
|
|
NM_152564.5(VPS13B):c.5171del (p.Gln1723_Leu1724insTer)
|
rs1434257397
|
|
|
NM_152564.5(VPS13B):c.5173A>G (p.Ile1725Val)
|
|
|
|
NM_152564.5(VPS13B):c.5184T>C (p.Asn1728=)
|
rs2133812127
|
|
|
NM_152564.5(VPS13B):c.5185A>G (p.Met1729Val)
|
rs1825837144
|
|
|
NM_152564.5(VPS13B):c.5190T>C (p.Thr1730=)
|
rs1454613781
|
|
|
NM_152564.5(VPS13B):c.5192G>A (p.Gly1731Glu)
|
|
|
|
NM_152564.5(VPS13B):c.5195T>C (p.Leu1732Pro)
|
rs1825837477
|
|
|
NM_152564.5(VPS13B):c.5197del (p.Glu1733fs)
|
|
|
|
NM_152564.5(VPS13B):c.5197dup (p.Glu1733fs)
|
|
|
|
NM_152564.5(VPS13B):c.5199A>G (p.Glu1733=)
|
|
|
|
NM_152564.5(VPS13B):c.5210A>G (p.Lys1737Arg)
|
|
|
|
NM_152564.5(VPS13B):c.5212G>C (p.Ala1738Pro)
|
rs572817378
|
|
|
NM_152564.5(VPS13B):c.5220+10A>G
|
rs1221192419
|
|
|
NM_152564.5(VPS13B):c.5220+12C>T
|
|
|
|
NM_152564.5(VPS13B):c.5220+12del
|
|
|
|
NM_152564.5(VPS13B):c.5220+14dup
|
rs1376069910
|
|
|
NM_152564.5(VPS13B):c.5220+16T>G
|
|
|
|
NM_152564.5(VPS13B):c.5220+17T>C
|
|
|
|
NM_152564.5(VPS13B):c.5220+18T>C
|
|
|
|
NM_152564.5(VPS13B):c.5220+20875C>A
|
|
|
|
NM_152564.5(VPS13B):c.5220+3_5220+5del
|
|
|
|
NM_152564.5(VPS13B):c.5221-13T>C
|
|
|
|
NM_152564.5(VPS13B):c.5221-15A>G
|
|
|
|
NM_152564.5(VPS13B):c.5221-15del
|
|
|
|
NM_152564.5(VPS13B):c.5221-17T>C
|
rs2133931320
|
|
|
NM_152564.5(VPS13B):c.5221-18A>G
|
|
|
|
NM_152564.5(VPS13B):c.5221-20T>G
|
|
|
|
NM_152564.5(VPS13B):c.5221-20_5221-16del
|
|
|
|
NM_152564.5(VPS13B):c.5221-24871G>T
|
rs944094510
|
|
|
NM_152564.5(VPS13B):c.5221-4A>G
|
rs2133931355
|
|
|
NM_152564.5(VPS13B):c.5221-6T>C
|
rs1829377717
|
|
|
NM_152564.5(VPS13B):c.5221-8dup
|
rs2133931327
|
|
|
NM_152564.5(VPS13B):c.5221A>T (p.Ile1741Phe)
|
|
|
|
NM_152564.5(VPS13B):c.5223C>T (p.Ile1741=)
|
|
|
|
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter)
|
rs1554884575
|
|
|
NM_152564.5(VPS13B):c.5232A>G (p.Gln1744=)
|
|
|
|
NM_152564.5(VPS13B):c.5233G>A (p.Glu1745Lys)
|
|
|
|
NM_152564.5(VPS13B):c.5233G>C (p.Glu1745Gln)
|
|
|
|
NM_152564.5(VPS13B):c.5233G>T (p.Glu1745Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5234A>G (p.Glu1745Gly)
|
|
|
|
NM_152564.5(VPS13B):c.5235A>G (p.Glu1745=)
|
|
|
|
NM_152564.5(VPS13B):c.5244A>C (p.Lys1748Asn)
|
rs1481251396
|
|
|
NM_152564.5(VPS13B):c.5244A>G (p.Lys1748=)
|
|
|
|
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs)
|
rs752399634
|
|
|
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter)
|
rs386834094
|
|
|
NM_152564.5(VPS13B):c.5264G>C (p.Gly1755Ala)
|
rs1426875703
|
|
|
NM_152564.5(VPS13B):c.5264G>T (p.Gly1755Val)
|
|
|
|
NM_152564.5(VPS13B):c.5266A>G (p.Met1756Val)
|
|
|
|
NM_152564.5(VPS13B):c.5277C>A (p.Thr1759=)
|
rs920541973
|
|
|
NM_152564.5(VPS13B):c.5277C>G (p.Thr1759=)
|
|
|
|
NM_152564.5(VPS13B):c.5277C>T (p.Thr1759=)
|
|
|
|
NM_152564.5(VPS13B):c.5284C>T (p.Arg1762Cys)
|
rs780314338
|
|
|
NM_152564.5(VPS13B):c.5289C>T (p.Tyr1763=)
|
|
|
|
NM_152564.5(VPS13B):c.5313T>A (p.Ile1771=)
|
|
|
|
NM_152564.5(VPS13B):c.5326G>T (p.Val1776Phe)
|
rs547179338
|
|
|
NM_152564.5(VPS13B):c.5328T>C (p.Val1776=)
|
|
|
|
NM_152564.5(VPS13B):c.5331A>G (p.Lys1777=)
|
rs2133931540
|
|
|
NM_152564.5(VPS13B):c.5342dup (p.Gln1782fs)
|
rs1588579347
|
|
|
NM_152564.5(VPS13B):c.5347A>G (p.Ile1783Val)
|
rs2133931572
|
|
|
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs)
|
rs1829386213
|
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
|
NM_152564.5(VPS13B):c.5354_5375del (p.Gln1785fs)
|
rs1829386577
|
|
|
NM_152564.5(VPS13B):c.5359A>G (p.Ser1787Gly)
|
rs905918713
|
|
|
NM_152564.5(VPS13B):c.5372A>T (p.Gln1791Leu)
|
rs2133931614
|
|
|
NM_152564.5(VPS13B):c.5373G>A (p.Gln1791=)
|
rs534024412
|
|
|
NM_152564.5(VPS13B):c.537T>C (p.Tyr179=)
|
rs754351909
|
|
|
NM_152564.5(VPS13B):c.5384C>T (p.Ala1795Val)
|
|
|
|
NM_152564.5(VPS13B):c.5385C>G (p.Ala1795=)
|
rs371961319
|
|
|
NM_152564.5(VPS13B):c.5386C>T (p.Arg1796Cys)
|
|
|
|
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs)
|
rs180177364
|
|
|
NM_152564.5(VPS13B):c.5389C>T (p.Pro1797Ser)
|
rs1829388448
|
|
|
NM_152564.5(VPS13B):c.5391dup (p.Ser1798fs)
|
|
|
|
NM_152564.5(VPS13B):c.539C>T (p.Thr180Ile)
|
|
|
|
NM_152564.5(VPS13B):c.5407A>G (p.Ile1803Val)
|
rs1829389144
|
|
|
NM_152564.5(VPS13B):c.5418T>C (p.Asn1806=)
|
rs2133931722
|
|
|
NM_152564.5(VPS13B):c.541dup (p.Val181fs)
|
|
|
|
NM_152564.5(VPS13B):c.5425T>C (p.Phe1809Leu)
|
|
|
|
NM_152564.5(VPS13B):c.5430T>A (p.Ile1810=)
|
|
|
|
NM_152564.5(VPS13B):c.5433C>T (p.Pro1811=)
|
rs2133931744
|
|
|
NM_152564.5(VPS13B):c.5433del (p.Phe1812fs)
|
|
|
|
NM_152564.5(VPS13B):c.5436T>G (p.Phe1812Leu)
|
rs2133931748
|
|
|
NM_152564.5(VPS13B):c.5438_5452del (p.Asp1813_Thr1817del)
|
rs1057519183
|
|
|
NM_152564.5(VPS13B):c.5439C>T (p.Asp1813=)
|
rs1588579468
|
|
|
NM_152564.5(VPS13B):c.5448T>C (p.Ile1816=)
|
rs2133931779
|
|
|
NM_152564.5(VPS13B):c.5463C>A (p.Ile1821=)
|
|
|
|
NM_152564.5(VPS13B):c.5463C>G (p.Ile1821Met)
|
|
|
|
NM_152564.5(VPS13B):c.5475C>T (p.Thr1825=)
|
|
|
|
NM_152564.5(VPS13B):c.547G>T (p.Glu183Ter)
|
rs1227284058
|
|
|
NM_152564.5(VPS13B):c.5483G>A (p.Cys1828Tyr)
|
rs2133931825
|
|
|
NM_152564.5(VPS13B):c.5489C>G (p.Ala1830Gly)
|
rs1829392467
|
|
|
NM_152564.5(VPS13B):c.5489C>T (p.Ala1830Val)
|
|
|
|
NM_152564.5(VPS13B):c.5490C>G (p.Ala1830=)
|
rs1829392538
|
|
|
NM_152564.5(VPS13B):c.5496C>A (p.Ser1832=)
|
|
|
|
NM_152564.5(VPS13B):c.5496C>T (p.Ser1832=)
|
|
|
|
NM_152564.5(VPS13B):c.5499A>G (p.Lys1833=)
|
|
|
|
NM_152564.5(VPS13B):c.5502G>A (p.Ser1834=)
|
rs143115716
|
|
|
NM_152564.5(VPS13B):c.5502G>T (p.Ser1834=)
|
rs143115716
|
|
|
NM_152564.5(VPS13B):c.5508A>G (p.Ser1836=)
|
|
|
|
NM_152564.5(VPS13B):c.5508A>T (p.Ser1836=)
|
rs2133931892
|
|
|
NM_152564.5(VPS13B):c.5514A>G (p.Glu1838=)
|
|
|
|
NM_152564.5(VPS13B):c.5518A>T (p.Lys1840Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn)
|
rs2133931905
|
|
|
NM_152564.5(VPS13B):c.5522A>G (p.Asn1841Ser)
|
|
|
|
NM_152564.5(VPS13B):c.5526T>C (p.Asn1842=)
|
|
|
|
NM_152564.5(VPS13B):c.5527G>T (p.Glu1843Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5528A>T (p.Glu1843Val)
|
rs141211386
|
|
|
NM_152564.5(VPS13B):c.552A>G (p.Leu184=)
|
|
|
|
NM_152564.5(VPS13B):c.5533dup (p.Thr1845fs)
|
rs1176397159
|
|
|
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter)
|
rs1554884838
|
|
|
NM_152564.5(VPS13B):c.5540dup (p.Ser1848fs)
|
rs386834095
|
|
|
NM_152564.5(VPS13B):c.5547A>G (p.Ser1849=)
|
rs1379595802
|
|
|
NM_152564.5(VPS13B):c.5551A>T (p.Asn1851Tyr)
|
rs746642412
|
|
|
NM_152564.5(VPS13B):c.5559A>G (p.Pro1853=)
|
|
|
|
NM_152564.5(VPS13B):c.5562A>G (p.Glu1854=)
|
|
|
|
NM_152564.5(VPS13B):c.5572G>A (p.Asp1858Asn)
|
rs886062542
|
|
|
NM_152564.5(VPS13B):c.5577del (p.Ala1860fs)
|
|
|
|
NM_152564.5(VPS13B):c.5580T>G (p.Ala1860=)
|
|
|
|
NM_152564.5(VPS13B):c.5583G>A (p.Lys1861=)
|
|
|
|
NM_152564.5(VPS13B):c.5588_5589del (p.Asn1863fs)
|
|
|
|
NM_152564.5(VPS13B):c.5589C>G (p.Asn1863Lys)
|
|
|
|
NM_152564.5(VPS13B):c.5589C>T (p.Asn1863=)
|
|
|
|
NM_152564.5(VPS13B):c.558T>C (p.Asp186=)
|
rs2132454209
|
|
|
NM_152564.5(VPS13B):c.5593_5614del (p.Ala1865fs)
|
|
|
|
NM_152564.5(VPS13B):c.5595A>G (p.Ala1865=)
|
|
|
|
NM_152564.5(VPS13B):c.5598T>C (p.Cys1866=)
|
rs2133932018
|
|
|
NM_152564.5(VPS13B):c.5599del (p.Ile1867fs)
|
|
|
|
NM_152564.5(VPS13B):c.5600T>C (p.Ile1867Thr)
|
|
|
|
NM_152564.5(VPS13B):c.5604C>T (p.Ser1868=)
|
|
|
|
NM_152564.5(VPS13B):c.5607G>T (p.Thr1869=)
|
rs368851580
|
|
|
NM_152564.5(VPS13B):c.5608G>A (p.Val1870Met)
|
rs1829397607
|
|
|
NM_152564.5(VPS13B):c.5616A>G (p.Ala1872=)
|
|
|
|
NM_152564.5(VPS13B):c.5617G>T (p.Glu1873Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5619A>C (p.Glu1873Asp)
|
|
|
|
NM_152564.5(VPS13B):c.5624T>A (p.Leu1875His)
|
rs2133932090
|
|
|
NM_152564.5(VPS13B):c.5624T>C (p.Leu1875Pro)
|
rs2133932090
|
|
|
NM_152564.5(VPS13B):c.5627_5628insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGTATATCTCCCAAAGATCTCTT (p.Leu1876delinsPhePhePhePhePhePhePheXaaXaaXaaXaaHisMetTyrThrCysAlaMetLeuValArgCysThrHisTer)
|
|
|
|
NM_152564.5(VPS13B):c.5629A>G (p.Arg1877Gly)
|
rs1829398507
|
|
|
NM_152564.5(VPS13B):c.5637C>T (p.Ser1879=)
|
|
|
|
NM_152564.5(VPS13B):c.5647C>T (p.Pro1883Ser)
|
|
|
|
NM_152564.5(VPS13B):c.5649T>C (p.Pro1883=)
|
|
|
|
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer)
|
rs1554884932
|
|
|
NM_152564.5(VPS13B):c.5653G>A (p.Gly1885Arg)
|
rs1829399240
|
|
|
NM_152564.5(VPS13B):c.5653G>T (p.Gly1885Trp)
|
rs1829399240
|
|
|
NM_152564.5(VPS13B):c.5654G>A (p.Gly1885Glu)
|
|
|
|
NM_152564.5(VPS13B):c.5656A>G (p.Lys1886Glu)
|
|
|
|
NM_152564.5(VPS13B):c.5661A>G (p.Lys1887=)
|
|
|
|
NM_152564.5(VPS13B):c.5662A>G (p.Ile1888Val)
|
rs2133932160
|
|
|
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)
|
rs386834096
|
|
|
NM_152564.5(VPS13B):c.5670C>A (p.Val1890=)
|
rs1588579765
|
|
|
NM_152564.5(VPS13B):c.5670C>G (p.Val1890=)
|
|
|
|
NM_152564.5(VPS13B):c.5670C>T (p.Val1890=)
|
rs1588579765
|
|
|
NM_152564.5(VPS13B):c.5675C>T (p.Ser1892Phe)
|
rs1588579775
|
|
|
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs)
|
rs386834097
|
|
|
NM_152564.5(VPS13B):c.5676T>C (p.Ser1892=)
|
rs1057231115
|
|
|
NM_152564.5(VPS13B):c.5679T>G (p.Leu1893=)
|
rs1189138750
|
|
|
NM_152564.5(VPS13B):c.5685T>C (p.Ser1895=)
|
|
|
|
NM_152564.5(VPS13B):c.5688T>G (p.Leu1896=)
|
|
|
|
NM_152564.5(VPS13B):c.5690A>G (p.His1897Arg)
|
rs1329528398
|
|
|
NM_152564.5(VPS13B):c.5700A>T (p.Thr1900=)
|
|
|
|
NM_152564.5(VPS13B):c.5705C>A (p.Ser1902Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5712T>C (p.Ala1904=)
|
|
|
|
NM_152564.5(VPS13B):c.5714G>C (p.Arg1905Thr)
|
rs1829402250
|
|
|
NM_152564.5(VPS13B):c.5719del (p.Ala1907fs)
|
|
|
|
NM_152564.5(VPS13B):c.5721A>G (p.Ala1907=)
|
|
|
|
NM_152564.5(VPS13B):c.5728A>G (p.Ile1910Val)
|
|
|
|
NM_152564.5(VPS13B):c.572A>G (p.Asp191Gly)
|
|
|
|
NM_152564.5(VPS13B):c.572del (p.Asp191fs)
|
rs1588038976
|
|
|
NM_152564.5(VPS13B):c.5733T>G (p.Thr1911=)
|
|
|
|
NM_152564.5(VPS13B):c.5734A>G (p.Ile1912Val)
|
rs1829403087
|
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
|
NM_152564.5(VPS13B):c.5735T>C (p.Ile1912Thr)
|
rs1829403156
|
|
|
NM_152564.5(VPS13B):c.5736T>C (p.Ile1912=)
|
|
|
|
NM_152564.5(VPS13B):c.5737G>T (p.Val1913Phe)
|
rs2133932316
|
|
|
NM_152564.5(VPS13B):c.5740C>T (p.Arg1914Trp)
|
|
|
|
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln)
|
rs150272676
|
|
|
NM_152564.5(VPS13B):c.5742G>A (p.Arg1914=)
|
|
|
|
NM_152564.5(VPS13B):c.5753G>A (p.Arg1918Gln)
|
|
|
|
NM_152564.5(VPS13B):c.5763T>A (p.Thr1921=)
|
|
|
|
NM_152564.5(VPS13B):c.5763T>C (p.Thr1921=)
|
|
|
|
NM_152564.5(VPS13B):c.5768A>C (p.Asp1923Ala)
|
rs1829404418
|
|
|
NM_152564.5(VPS13B):c.5770T>C (p.Leu1924=)
|
|
|
|
NM_152564.5(VPS13B):c.5771del (p.Leu1924fs)
|
rs2133932364
|
|
|
NM_152564.5(VPS13B):c.5773C>A (p.Gln1925Lys)
|
rs2133932374
|
|
|
NM_152564.5(VPS13B):c.5777T>C (p.Leu1926Pro)
|
rs1829404779
|
|
|
NM_152564.5(VPS13B):c.5778A>G (p.Leu1926=)
|
|
|
|
NM_152564.5(VPS13B):c.5788C>T (p.Leu1930=)
|
|
|
|
NM_152564.5(VPS13B):c.5790G>C (p.Leu1930=)
|
rs1588579889
|
|
|
NM_152564.5(VPS13B):c.580+15A>G
|
|
|
|
NM_152564.5(VPS13B):c.580+19T>C
|
|
|
|
NM_152564.5(VPS13B):c.580+1G>A
|
rs1846848656
|
|
|
NM_152564.5(VPS13B):c.580+1G>T
|
rs1846848656
|
|
|
NM_152564.5(VPS13B):c.580+20A>G
|
|
|
|
NM_152564.5(VPS13B):c.580+2T>C
|
|
|
|
NM_152564.5(VPS13B):c.580+8A>T
|
|
|
|
NM_152564.5(VPS13B):c.5802G>A (p.Val1934=)
|
|
|
|
NM_152564.5(VPS13B):c.5802G>T (p.Val1934=)
|
|
|
|
NM_152564.5(VPS13B):c.5805C>T (p.Ser1935=)
|
|
|
|
NM_152564.5(VPS13B):c.5809C>G (p.Pro1937Ala)
|
rs1829406082
|
|
|
NM_152564.5(VPS13B):c.580G>A (p.Ala194Thr)
|
|
|
|
NM_152564.5(VPS13B):c.581-13T>C
|
|
|
|
NM_152564.5(VPS13B):c.581-14T>A
|
|
|
|
NM_152564.5(VPS13B):c.581-17T>C
|
rs199785370
|
|
|
NM_152564.5(VPS13B):c.581-17T>G
|
|
|
|
NM_152564.5(VPS13B):c.581-18G>A
|
rs2132481452
|
|
|
NM_152564.5(VPS13B):c.581-18del
|
|
|
|
NM_152564.5(VPS13B):c.581-1G>A
|
|
|
|
NM_152564.5(VPS13B):c.581-4T>G
|
|
|
|
NM_152564.5(VPS13B):c.581-9del
|
|
|
|
NM_152564.5(VPS13B):c.581-9dup
|
rs60664170
|
|
|
NM_152564.5(VPS13B):c.5814C>A (p.Ser1938=)
|
|
|
|
NM_152564.5(VPS13B):c.5815T>C (p.Leu1939=)
|
|
|
|
NM_152564.5(VPS13B):c.5815T>G (p.Leu1939Val)
|
rs751559027
|
|
|
NM_152564.5(VPS13B):c.5819T>C (p.Leu1940Pro)
|
rs2133932465
|
|
|
NM_152564.5(VPS13B):c.5820T>A (p.Leu1940=)
|
|
|
|
NM_152564.5(VPS13B):c.5826T>C (p.Ser1942=)
|
|
|
|
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5836_5840del (p.Arg1946fs)
|
rs2133932487
|
|
|
NM_152564.5(VPS13B):c.5846G>A (p.Arg1949Gln)
|
|
|
|
NM_152564.5(VPS13B):c.5848G>C (p.Val1950Leu)
|
|
|
|
NM_152564.5(VPS13B):c.5849T>C (p.Val1950Ala)
|
|
|
|
NM_152564.5(VPS13B):c.584C>T (p.Thr195Ile)
|
rs770738729
|
|
|
NM_152564.5(VPS13B):c.5859C>A (p.Ser1953=)
|
|
|
|
NM_152564.5(VPS13B):c.5871T>C (p.Ala1957=)
|
|
|
|
NM_152564.5(VPS13B):c.5874G>T (p.Val1958=)
|
|
|
|
NM_152564.5(VPS13B):c.5885T>C (p.Val1962Ala)
|
rs149408318
|
|
|
NM_152564.5(VPS13B):c.5886G>A (p.Val1962=)
|
|
|
|
NM_152564.5(VPS13B):c.5894A>C (p.Asp1965Ala)
|
|
|
|
NM_152564.5(VPS13B):c.5895T>C (p.Asp1965=)
|
|
|
|
NM_152564.5(VPS13B):c.5908+14A>C
|
rs886062543
|
|
|
NM_152564.5(VPS13B):c.5908+14A>G
|
|
|
|
NM_152564.5(VPS13B):c.5908+19dup
|
|
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
|
NM_152564.5(VPS13B):c.5908+7A>C
|
|
|
|
NM_152564.5(VPS13B):c.5908+8C>A
|
|
|
|
NM_152564.5(VPS13B):c.5909-16A>T
|
|
|
|
NM_152564.5(VPS13B):c.5909-1G>T
|
rs1057516694
|
|
|
NM_152564.5(VPS13B):c.5909-4T>G
|
|
|
|
NM_152564.5(VPS13B):c.5910T>C (p.Asp1970=)
|
rs2129763250
|
|
|
NM_152564.5(VPS13B):c.5911C>T (p.Pro1971Ser)
|
|
|
|
NM_152564.5(VPS13B):c.5913T>C (p.Pro1971=)
|
|
|
|
NM_152564.5(VPS13B):c.5919G>A (p.Lys1973=)
|
rs1588598785
|
|
|
NM_152564.5(VPS13B):c.5921C>T (p.Thr1974Ile)
|
|
|
|
NM_152564.5(VPS13B):c.5922T>C (p.Thr1974=)
|
|
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
|
NM_152564.5(VPS13B):c.5924T>G (p.Leu1975Arg)
|
rs766541661
|
|
|
NM_152564.5(VPS13B):c.5925G>A (p.Leu1975=)
|
rs2129763425
|
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
|
NM_152564.5(VPS13B):c.5931A>T (p.Glu1977Asp)
|
rs1830218052
|
|
|
NM_152564.5(VPS13B):c.5931del (p.Ala1978fs)
|
rs2129763497
|
|
|
NM_152564.5(VPS13B):c.5936_5937dup (p.Asp1980fs)
|
rs2129763561
|
|
|
NM_152564.5(VPS13B):c.5946C>A (p.Cys1982Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5953T>G (p.Trp1985Gly)
|
rs2129763705
|
|
|
NM_152564.5(VPS13B):c.5955G>A (p.Trp1985Ter)
|
rs1554892040
|
|
|
NM_152564.5(VPS13B):c.5958A>G (p.Leu1986=)
|
rs2129763770
|
|
|
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
|
|
|
|
NM_152564.5(VPS13B):c.5967G>A (p.Val1989=)
|
rs2129763862
|
|
|
NM_152564.5(VPS13B):c.596T>G (p.Leu199Arg)
|
|
|
|
NM_152564.5(VPS13B):c.5980G>A (p.Asp1994Asn)
|
|
|
|
NM_152564.5(VPS13B):c.5990G>A (p.Ser1997Asn)
|
|
|
|
NM_152564.5(VPS13B):c.5994T>C (p.Gly1998=)
|
rs2129764118
|
|
|
NM_152564.5(VPS13B):c.5995A>G (p.Ile1999Val)
|
|
|
|
NM_152564.5(VPS13B):c.5997T>C (p.Ile1999=)
|
|
|
|
NM_152564.5(VPS13B):c.5998C>T (p.Pro2000Ser)
|
rs939700991
|
|
|
NM_152564.5(VPS13B):c.5T>A (p.Leu2Gln)
|
|
|
|
NM_152564.5(VPS13B):c.6003T>C (p.Pro2001=)
|
|
|
|
NM_152564.5(VPS13B):c.6004T>C (p.Ser2002Pro)
|
|
|
|
NM_152564.5(VPS13B):c.6009T>C (p.Phe2003=)
|
rs1830220185
|
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
|
NM_152564.5(VPS13B):c.6015A>G (p.Thr2005=)
|
|
|
|
NM_152564.5(VPS13B):c.6018A>G (p.Leu2006=)
|
|
|
|
NM_152564.5(VPS13B):c.6019C>T (p.Gln2007Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6023T>A (p.Ile2008Asn)
|
rs1341696957
|
|
|
NM_152564.5(VPS13B):c.6030C>T (p.Asp2010=)
|
rs2129764617
|
|
|
NM_152564.5(VPS13B):c.6039T>A (p.Asn2013Lys)
|
rs1211147648
|
|
|
NM_152564.5(VPS13B):c.6039T>G (p.Asn2013Lys)
|
|
|
|
NM_152564.5(VPS13B):c.6046+10T>C
|
|
|
|
NM_152564.5(VPS13B):c.6046+12A>T
|
|
|
|
NM_152564.5(VPS13B):c.6046+17A>G
|
|
|
|
NM_152564.5(VPS13B):c.6046+17del
|
|
|
|
NM_152564.5(VPS13B):c.6046+1G>C
|
rs750003804
|
|
|
NM_152564.5(VPS13B):c.6046+1G>T
|
rs750003804
|
|
|
NM_152564.5(VPS13B):c.6046+8A>G
|
|
|
|
NM_152564.5(VPS13B):c.6046+8A>T
|
|
|
|
NM_152564.5(VPS13B):c.6046+8del
|
rs2129764825
|
|
|
NM_152564.5(VPS13B):c.6046+9G>A
|
rs2129764870
|
|
|
NM_152564.5(VPS13B):c.6046+9G>C
|
rs2129764870
|
|
|
NM_152564.5(VPS13B):c.6047-10A>C
|
rs761450531
|
|
|
NM_152564.5(VPS13B):c.6047-11T>C
|
|
|
|
NM_152564.5(VPS13B):c.6047-14T>C
|
|
|
|
NM_152564.5(VPS13B):c.6047-15T>C
|
|
|
|
NM_152564.5(VPS13B):c.6047-17_6047-16del
|
|
|
|
NM_152564.5(VPS13B):c.6047-19C>A
|
|
|
|
NM_152564.5(VPS13B):c.6047-1G>A
|
rs750092574
|
|
|
NM_152564.5(VPS13B):c.6047-20T>A
|
|
|
|
NM_152564.5(VPS13B):c.6047-5T>C
|
|
|
|
NM_152564.5(VPS13B):c.6047-5T>G
|
|
|
|
NM_152564.5(VPS13B):c.6047-5_6047del
|
rs1057516841
|
|
|
NM_152564.5(VPS13B):c.6047-6C>G
|
rs1386160206
|
|
|
NM_152564.5(VPS13B):c.6047-9C>T
|
|
|
|
NM_152564.5(VPS13B):c.6050A>G (p.Asp2017Gly)
|
rs1157627196
|
|
|
NM_152564.5(VPS13B):c.6052G>A (p.Val2018Ile)
|
rs2130179163
|
|
|
NM_152564.5(VPS13B):c.6054C>G (p.Val2018=)
|
|
|
|
NM_152564.5(VPS13B):c.6057T>C (p.Asn2019=)
|
|
|
|
NM_152564.5(VPS13B):c.6063T>C (p.Asp2021=)
|
rs919026637
|
|
|
NM_152564.5(VPS13B):c.6067T>A (p.Ser2023Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6068C>G (p.Ser2023Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6074del (p.Pro2025fs)
|
|
|
|
NM_152564.5(VPS13B):c.6082G>A (p.Ala2028Thr)
|
rs1310217789
|
|
|
NM_152564.5(VPS13B):c.6082G>C (p.Ala2028Pro)
|
rs1310217789
|
|
|
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs)
|
rs1554911430
|
|
|
NM_152564.5(VPS13B):c.6087C>T (p.Asn2029=)
|
rs746122729
|
|
|
NM_152564.5(VPS13B):c.60C>A (p.Asn20Lys)
|
rs2132125423
|
|
|
NM_152564.5(VPS13B):c.6103C>A (p.Leu2035Met)
|
|
|
|
NM_152564.5(VPS13B):c.6103C>T (p.Leu2035=)
|
rs146073786
|
|
|
NM_152564.5(VPS13B):c.610A>C (p.Asn204His)
|
rs2132481643
|
|
|
NM_152564.5(VPS13B):c.610A>G (p.Asn204Asp)
|
rs2132481643
|
|
|
NM_152564.5(VPS13B):c.6117C>A (p.Asn2039Lys)
|
rs2130179604
|
|
|
NM_152564.5(VPS13B):c.6118del (p.Leu2040fs)
|
rs2130179621
|
|
|
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs)
|
rs1554911481
|
|
|
NM_152564.5(VPS13B):c.6132G>A (p.Lys2044=)
|
rs1832185851
|
|
|
NM_152564.5(VPS13B):c.6132G>T (p.Lys2044Asn)
|
rs1832185851
|
|
|
NM_152564.5(VPS13B):c.6134T>C (p.Ile2045Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6140dup (p.Asn2047fs)
|
rs2130179734
|
|
|
NM_152564.5(VPS13B):c.6141T>C (p.Asn2047=)
|
rs761542645
|
|
|
NM_152564.5(VPS13B):c.6143C>T (p.Ala2048Val)
|
rs1832186518
|
|
|
NM_152564.5(VPS13B):c.6144A>G (p.Ala2048=)
|
|
|
|
NM_152564.5(VPS13B):c.6147_6148del (p.His2049fs)
|
rs1588635717
|
|
|
NM_152564.5(VPS13B):c.6154G>A (p.Ala2052Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6154G>T (p.Ala2052Ser)
|
|
|
|
NM_152564.5(VPS13B):c.6156A>G (p.Ala2052=)
|
|
|
|
NM_152564.5(VPS13B):c.6158A>G (p.His2053Arg)
|
rs762539148
|
|
|
NM_152564.5(VPS13B):c.6160A>C (p.Ser2054Arg)
|
|
|
|
NM_152564.5(VPS13B):c.6161G>C (p.Ser2054Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6165A>G (p.Glu2055=)
|
|
|
|
NM_152564.5(VPS13B):c.6171T>C (p.Thr2057=)
|
rs1832187710
|
|
|
NM_152564.5(VPS13B):c.6179T>C (p.Met2060Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6183del (p.Asn2062fs)
|
|
|
|
NM_152564.5(VPS13B):c.6184A>G (p.Asn2062Asp)
|
rs754400139
|
|
|
NM_152564.5(VPS13B):c.6185A>G (p.Asn2062Ser)
|
|
|
|
NM_152564.5(VPS13B):c.6186C>T (p.Asn2062=)
|
rs1832188570
|
|
|
NM_152564.5(VPS13B):c.6201_6210del (p.Lys2067fs)
|
rs2130180236
|
|
|
NM_152564.5(VPS13B):c.6202G>T (p.Asp2068Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.6208C>T (p.Leu2070Phe)
|
|
|
|
NM_152564.5(VPS13B):c.6213A>G (p.Pro2071=)
|
|
|
|
NM_152564.5(VPS13B):c.621C>G (p.Asp207Glu)
|
rs1847342750
|
|
|
NM_152564.5(VPS13B):c.6220A>G (p.Lys2074Glu)
|
rs2130180328
|
|
|
NM_152564.5(VPS13B):c.6225T>C (p.Tyr2075=)
|
|
|
|
NM_152564.5(VPS13B):c.6226T>C (p.Tyr2076His)
|
|
|
|
NM_152564.5(VPS13B):c.6226T>G (p.Tyr2076Asp)
|
rs1832190256
|
|
|
NM_152564.5(VPS13B):c.6226dup (p.Tyr2076fs)
|
|
|
|
NM_152564.5(VPS13B):c.6228C>A (p.Tyr2076Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6230G>A (p.Arg2077His)
|
rs747116389
|
|
|
NM_152564.5(VPS13B):c.6230G>T (p.Arg2077Leu)
|
rs747116389
|
|
|
NM_152564.5(VPS13B):c.623G>A (p.Cys208Tyr)
|
rs1209535812
|
|
|
NM_152564.5(VPS13B):c.6248C>T (p.Pro2083Leu)
|
rs1184896116
|
|
|
NM_152564.5(VPS13B):c.6249C>T (p.Pro2083=)
|
|
|
|
NM_152564.5(VPS13B):c.624T>C (p.Cys208=)
|
rs2132481707
|
|
|
NM_152564.5(VPS13B):c.6257A>G (p.His2086Arg)
|
|
|
|
NM_152564.5(VPS13B):c.6261T>C (p.Gly2087=)
|
rs2130180519
|
|
|
NM_152564.5(VPS13B):c.6266G>A (p.Gly2089Glu)
|
rs398124336
|
|
|
NM_152564.5(VPS13B):c.6269T>C (p.Val2090Ala)
|
rs1832191327
|
|
|
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs)
|
rs386834100
|
|
|
NM_152564.5(VPS13B):c.627A>G (p.Thr209=)
|
rs2132481722
|
|
|
NM_152564.5(VPS13B):c.627A>T (p.Thr209=)
|
rs2132481722
|
|
|
NM_152564.5(VPS13B):c.6282A>G (p.Ser2094=)
|
rs2130180683
|
|
|
NM_152564.5(VPS13B):c.6289_6295del (p.Glu2097fs)
|
|
|
|
NM_152564.5(VPS13B):c.6298T>C (p.Trp2100Arg)
|
rs758902485
|
|
|
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter)
|
rs1057516331
|
|
|
NM_152564.5(VPS13B):c.6299_6308del (p.Trp2100fs)
|
rs1554911731
|
|
|
NM_152564.5(VPS13B):c.6301A>G (p.Arg2101Gly)
|
rs767165760
|
|
|
NM_152564.5(VPS13B):c.6302_6303insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAAACATGTGGAG (p.Arg2101_Ala2102insProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluAsnMetTrpArg)
|
rs2130180694
|
|
|
NM_152564.5(VPS13B):c.6304G>A (p.Ala2102Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6306T>C (p.Ala2102=)
|
rs2130180906
|
|
|
NM_152564.5(VPS13B):c.630T>C (p.Val210=)
|
rs2132481732
|
|
|
NM_152564.5(VPS13B):c.6312C>T (p.Ser2104=)
|
rs2130180969
|
|
|
NM_152564.5(VPS13B):c.6313T>G (p.Cys2105Gly)
|
|
|
|
NM_152564.5(VPS13B):c.6315C>A (p.Cys2105Ter)
|
rs2130181003
|
|
|
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter)
|
rs1057516489
|
|
|
NM_152564.5(VPS13B):c.6329_6330del (p.Ser2110fs)
|
|
|
|
NM_152564.5(VPS13B):c.6330T>C (p.Ser2110=)
|
|
|
|
NM_152564.5(VPS13B):c.6330del (p.Val2111fs)
|
|
|
|
NM_152564.5(VPS13B):c.6336A>T (p.Gln2112His)
|
rs780082543
|
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
|
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs)
|
rs386834101
|
|
|
NM_152564.5(VPS13B):c.6346A>G (p.Ile2116Val)
|
|
|
|
NM_152564.5(VPS13B):c.6362A>G (p.Glu2121Gly)
|
rs2130181316
|
|
|
NM_152564.5(VPS13B):c.6371C>G (p.Pro2124Arg)
|
rs762559001
|
|
|
NM_152564.5(VPS13B):c.6377C>G (p.Thr2126Ser)
|
|
|
|
NM_152564.5(VPS13B):c.6381del (p.Ser2127fs)
|
|
|
|
NM_152564.5(VPS13B):c.6395T>A (p.Leu2132Ter)
|
rs2130181483
|
|
|
NM_152564.5(VPS13B):c.6398C>A (p.Ala2133Glu)
|
rs2130181520
|
|
|
NM_152564.5(VPS13B):c.6399A>G (p.Ala2133=)
|
|
|
|
NM_152564.5(VPS13B):c.63A>G (p.Leu21=)
|
rs1841448791
|
|
|
NM_152564.5(VPS13B):c.6411C>T (p.Asn2137=)
|
|
|
|
NM_152564.5(VPS13B):c.6412del (p.Leu2138fs)
|
|
|
|
NM_152564.5(VPS13B):c.6422G>C (p.Ser2141Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6432C>A (p.Val2144=)
|
rs1399379580
|
|
|
NM_152564.5(VPS13B):c.6447del (p.Val2150fs)
|
rs2130181658
|
|
|
NM_152564.5(VPS13B):c.6451C>T (p.Pro2151Ser)
|
rs2130181723
|
|
|
NM_152564.5(VPS13B):c.6454+10A>G
|
rs2130181855
|
|
|
NM_152564.5(VPS13B):c.6454+16G>C
|
|
|
|
NM_152564.5(VPS13B):c.6454+19G>A
|
|
|
|
NM_152564.5(VPS13B):c.6454+19G>T
|
|
|
|
NM_152564.5(VPS13B):c.6454+19del
|
rs772522395
|
|
|
NM_152564.5(VPS13B):c.6454+1G>C
|
rs1235993153
|
|
|
NM_152564.5(VPS13B):c.6455-15G>A
|
|
|
|
NM_152564.5(VPS13B):c.6455-16del
|
|
|
|
NM_152564.5(VPS13B):c.6455-17C>A
|
|
|
|
NM_152564.5(VPS13B):c.6455-20_6455-12del
|
|
|
|
NM_152564.5(VPS13B):c.6455-4del
|
rs398124337
|
|
|
NM_152564.5(VPS13B):c.6455-4dup
|
rs398124337
|
|
|
NM_152564.5(VPS13B):c.6455-5_6455-4dup
|
|
|
|
NM_152564.5(VPS13B):c.6455-9T>A
|
|
|
|
NM_152564.5(VPS13B):c.6456C>G (p.Gly2152=)
|
rs141845131
|
|
|
NM_152564.5(VPS13B):c.6456C>T (p.Gly2152=)
|
|
|
|
NM_152564.5(VPS13B):c.6457A>G (p.Ile2153Val)
|
|
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
|
NM_152564.5(VPS13B):c.6470C>G (p.Ser2157Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6483C>A (p.Leu2161=)
|
rs2130316478
|
|
|
NM_152564.5(VPS13B):c.6483C>T (p.Leu2161=)
|
|
|
|
NM_152564.5(VPS13B):c.6493G>A (p.Asp2165Asn)
|
|
|
|
NM_152564.5(VPS13B):c.6503T>G (p.Leu2168Arg)
|
rs120074149
|
|
|
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6507A>C (p.Lys2169Asn)
|
rs1367000031
|
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
|
NM_152564.5(VPS13B):c.6511A>G (p.Ser2171Gly)
|
|
|
|
NM_152564.5(VPS13B):c.6513T>A (p.Ser2171Arg)
|
|
|
|
NM_152564.5(VPS13B):c.6513T>C (p.Ser2171=)
|
rs2130316731
|
|
|
NM_152564.5(VPS13B):c.6516C>G (p.Leu2172=)
|
rs1308542502
|
|
|
NM_152564.5(VPS13B):c.6519A>G (p.Lys2173=)
|
|
|
|
NM_152564.5(VPS13B):c.651C>T (p.Ala217=)
|
rs2132481774
|
|
|
NM_152564.5(VPS13B):c.6523_6526del (p.Arg2175fs)
|
|
|
|
NM_152564.5(VPS13B):c.6524G>T (p.Arg2175Ile)
|
rs543464415
|
|
|
NM_152564.5(VPS13B):c.6529C>A (p.Arg2177Ser)
|
rs756143690
|
|
|
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys)
|
rs756143690
|
|
|
NM_152564.5(VPS13B):c.6530G>T (p.Arg2177Leu)
|
rs147099791
|
|
|
NM_152564.5(VPS13B):c.6538A>G (p.Ile2180Val)
|
rs1179122669
|
|
|
NM_152564.5(VPS13B):c.6539T>G (p.Ile2180Arg)
|
|
|
|
NM_152564.5(VPS13B):c.6542G>A (p.Gly2181Glu)
|
|
|
|
NM_152564.5(VPS13B):c.6543A>T (p.Gly2181=)
|
|
|
|
NM_152564.5(VPS13B):c.6544C>T (p.Pro2182Ser)
|
rs778567402
|
|
|
NM_152564.5(VPS13B):c.6546A>G (p.Pro2182=)
|
rs374153644
|
|
|
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6552T>C (p.Cys2184=)
|
|
|
|
NM_152564.5(VPS13B):c.6552dup (p.Ala2185fs)
|
|
|
|
NM_152564.5(VPS13B):c.6560C>T (p.Ala2187Val)
|
|
|
|
NM_152564.5(VPS13B):c.6563A>G (p.Asn2188Ser)
|
rs1399212150
|
|
|
NM_152564.5(VPS13B):c.6564T>C (p.Asn2188=)
|
rs746691768
|
|
|
NM_152564.5(VPS13B):c.6565C>A (p.Leu2189Met)
|
rs1299494623
|
|
|
NM_152564.5(VPS13B):c.6565C>T (p.Leu2189=)
|
|
|
|
NM_152564.5(VPS13B):c.6566T>G (p.Leu2189Arg)
|
|
|
|
NM_152564.5(VPS13B):c.6567G>A (p.Leu2189=)
|
|
|
|
NM_152564.5(VPS13B):c.6570A>G (p.Glu2190=)
|
rs2130317152
|
|
|
NM_152564.5(VPS13B):c.6573T>C (p.Ala2191=)
|
|
|
|
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs)
|
rs1554922054
|
|
|
NM_152564.5(VPS13B):c.6579G>C (p.Trp2193Cys)
|
rs763341700
|
|
|
NM_152564.5(VPS13B):c.6589A>C (p.Ser2197Arg)
|
rs1319011435
|
|
|
NM_152564.5(VPS13B):c.6594G>A (p.Gly2198=)
|
rs2130317388
|
|
|
NM_152564.5(VPS13B):c.6600A>C (p.Pro2200=)
|
rs1259627712
|
|
|
NM_152564.5(VPS13B):c.6612A>G (p.Gln2204=)
|
|
|
|
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs)
|
rs386834102
|
|
|
NM_152564.5(VPS13B):c.6625dup (p.Ile2209fs)
|
rs2130317561
|
|
|
NM_152564.5(VPS13B):c.6635A>C (p.Asp2212Ala)
|
rs1832965733
|
|
|
NM_152564.5(VPS13B):c.6636C>T (p.Asp2212=)
|
rs750393129
|
|
|
NM_152564.5(VPS13B):c.6647_6653del (p.Gly2216fs)
|
|
|
|
NM_152564.5(VPS13B):c.664G>T (p.Glu222Ter)
|
rs2132481787
|
|
|
NM_152564.5(VPS13B):c.6652C>T (p.Leu2218=)
|
rs559107679
|
|
|
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=)
|
rs1046756662
|
|
|
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter)
|
rs1057516663
|
|
|
NM_152564.5(VPS13B):c.6657+14G>A
|
rs2130317929
|
|
|
NM_152564.5(VPS13B):c.6657+15G>T
|
|
|
|
NM_152564.5(VPS13B):c.6657+18A>G
|
|
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
|
NM_152564.5(VPS13B):c.6657+2T>C
|
rs1832966881
|
|
|
NM_152564.5(VPS13B):c.6657+8G>A
|
rs2130317888
|
|
|
NM_152564.5(VPS13B):c.6658-10G>T
|
|
|
|
NM_152564.5(VPS13B):c.6658-12A>G
|
|
|
|
NM_152564.5(VPS13B):c.6658-13T>G
|
|
|
|
NM_152564.5(VPS13B):c.6658-13del
|
|
|
|
NM_152564.5(VPS13B):c.6658-13dup
|
|
|
|
NM_152564.5(VPS13B):c.6658-15T>A
|
|
|
|
NM_152564.5(VPS13B):c.6658-2A>G
|
rs386834103
|
|
|
NM_152564.5(VPS13B):c.6658-5dup
|
|
|
|
NM_152564.5(VPS13B):c.6672A>G (p.Gln2224=)
|
rs2130339813
|
|
|
NM_152564.5(VPS13B):c.6673G>C (p.Glu2225Gln)
|
rs1026588488
|
|
|
NM_152564.5(VPS13B):c.6682A>G (p.Asn2228Asp)
|
|
|
|
NM_152564.5(VPS13B):c.6684T>C (p.Asn2228=)
|
|
|
|
NM_152564.5(VPS13B):c.6689del (p.Cys2229_Leu2230insTer)
|
|
|
|
NM_152564.5(VPS13B):c.6690A>T (p.Leu2230Phe)
|
|
|
|
NM_152564.5(VPS13B):c.6693T>G (p.Val2231=)
|
rs1833088212
|
|
|
NM_152564.5(VPS13B):c.6697_6698del (p.Leu2233fs)
|
|
|
|
NM_152564.5(VPS13B):c.6698T>G (p.Leu2233Arg)
|
rs776873589
|
|
|
NM_152564.5(VPS13B):c.6702T>C (p.His2234=)
|
|
|
|
NM_152564.5(VPS13B):c.6705A>G (p.Glu2235=)
|
rs2130339992
|
|
|
NM_152564.5(VPS13B):c.6711C>G (p.Leu2237=)
|
|
|
|
NM_152564.5(VPS13B):c.6714T>C (p.Asn2238=)
|
|
|
|
NM_152564.5(VPS13B):c.6726T>C (p.Asn2242=)
|
|
|
|
NM_152564.5(VPS13B):c.6731del (p.Glu2244fs)
|
rs1833089251
|
|
|
NM_152564.5(VPS13B):c.673C>T (p.Gln225Ter)
|
|
|
|
NM_152564.5(VPS13B):c.6746T>A (p.Val2249Glu)
|
rs1833089427
|
|
|
NM_152564.5(VPS13B):c.6747A>C (p.Val2249=)
|
|
|
|
NM_152564.5(VPS13B):c.6747_6752del (p.Gln2250_Val2251del)
|
rs1833089374
|
|
|
NM_152564.5(VPS13B):c.6749A>C (p.Gln2250Pro)
|
rs1180682567
|
|
|
NM_152564.5(VPS13B):c.6750A>G (p.Gln2250=)
|
rs1833089749
|
|
|
NM_152564.5(VPS13B):c.6756T>C (p.Ser2252=)
|
|
|
|
NM_152564.5(VPS13B):c.675G>A (p.Gln225=)
|
rs750903037
|
|
|
NM_152564.5(VPS13B):c.6760C>T (p.Pro2254Ser)
|
|
|
|
NM_152564.5(VPS13B):c.6765G>A (p.Val2255=)
|
|
|
|
NM_152564.5(VPS13B):c.6765G>C (p.Val2255=)
|
rs544426092
|
|
|
NM_152564.5(VPS13B):c.6771A>G (p.Gln2257=)
|
|
|
|
NM_152564.5(VPS13B):c.6777A>G (p.Ser2259=)
|
|
|
|
NM_152564.5(VPS13B):c.6780T>C (p.Ser2260=)
|
rs1277725282
|
|
|
NM_152564.5(VPS13B):c.6801A>T (p.Thr2267=)
|
rs2130340554
|
|
|
NM_152564.5(VPS13B):c.6804del (p.Phe2268fs)
|
rs761736983
|
|
|
NM_152564.5(VPS13B):c.6806A>T (p.Lys2269Ile)
|
|
|
|
NM_152564.5(VPS13B):c.6810T>C (p.Ser2270=)
|
|
|
|
NM_152564.5(VPS13B):c.6813A>G (p.Glu2271=)
|
|
|
|
NM_152564.5(VPS13B):c.681T>A (p.Pro227=)
|
rs1020075560
|
|
|
NM_152564.5(VPS13B):c.6822A>T (p.Ser2274=)
|
|
|
|
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs)
|
rs1057516302
|
|
|
NM_152564.5(VPS13B):c.6834G>A (p.Arg2278=)
|
rs1833091810
|
|
|
NM_152564.5(VPS13B):c.6834dup (p.Thr2279fs)
|
|
|
|
NM_152564.5(VPS13B):c.6837A>T (p.Thr2279=)
|
|
|
|
NM_152564.5(VPS13B):c.6842T>A (p.Leu2281Gln)
|
|
|
|
NM_152564.5(VPS13B):c.6848A>T (p.Gln2283Leu)
|
rs1833091984
|
|
|
NM_152564.5(VPS13B):c.684A>G (p.Leu228=)
|
|
|
|
NM_152564.5(VPS13B):c.6852T>C (p.Tyr2284=)
|
rs2130340773
|
|
|
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter)
|
rs1833092121
|
|
|
NM_152564.5(VPS13B):c.6857A>G (p.Gln2286Arg)
|
rs200713917
|
|
|
NM_152564.5(VPS13B):c.6860A>G (p.Asp2287Gly)
|
|
|
|
NM_152564.5(VPS13B):c.6861T>C (p.Asp2287=)
|
|
|
|
NM_152564.5(VPS13B):c.6862G>A (p.Ala2288Thr)
|
|
|
|
NM_152564.5(VPS13B):c.6865+14G>C
|
|
|
|
NM_152564.5(VPS13B):c.6865+16C>T
|
|
|
|
NM_152564.5(VPS13B):c.6865+17T>A
|
|
|
|
NM_152564.5(VPS13B):c.6865+18C>G
|
rs1373890447
|
|
|
NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
|
|
NM_152564.5(VPS13B):c.6865+7A>G
|
|
|
|
NM_152564.5(VPS13B):c.6866-10T>C
|
rs760306334
|
|
|
NM_152564.5(VPS13B):c.6866-12T>C
|
|
|
|
NM_152564.5(VPS13B):c.6866-14C>G
|
rs1277958075
|
|
|
NM_152564.5(VPS13B):c.6866-7T>C
|
|
|
|
NM_152564.5(VPS13B):c.6866-9A>G
|
rs2130342811
|
|
|
NM_152564.5(VPS13B):c.6867A>G (p.Glu2289=)
|
rs1217062116
|
|
|
NM_152564.5(VPS13B):c.6870T>C (p.Ser2290=)
|
rs2130342895
|
|
|
NM_152564.5(VPS13B):c.6878T>C (p.Leu2293Ser)
|
|
|
|
NM_152564.5(VPS13B):c.6881C>T (p.Pro2294Leu)
|
rs1833104493
|
|
|
NM_152564.5(VPS13B):c.6882T>C (p.Pro2294=)
|
rs2130342974
|
|
|
NM_152564.5(VPS13B):c.6882del (p.Val2296fs)
|
|
|
|
NM_152564.5(VPS13B):c.6885G>A (p.Gly2295=)
|
rs1588654731
|
|
|
NM_152564.5(VPS13B):c.6888C>G (p.Val2296=)
|
rs1563881584
|
|
|
NM_152564.5(VPS13B):c.6891T>C (p.Tyr2297=)
|
|
|
|
NM_152564.5(VPS13B):c.6900A>G (p.Leu2300=)
|
|
|
|
NM_152564.5(VPS13B):c.6905A>G (p.Tyr2302Cys)
|
rs1833105159
|
|
|
NM_152564.5(VPS13B):c.6915T>C (p.Thr2305=)
|
rs1833105356
|
|
|
NM_152564.5(VPS13B):c.6919G>A (p.Asp2307Asn)
|
rs1833105526
|
|
|
NM_152564.5(VPS13B):c.6921T>C (p.Asp2307=)
|
rs2130343166
|
|
|
NM_152564.5(VPS13B):c.6927A>G (p.Pro2309=)
|
|
|
|
NM_152564.5(VPS13B):c.6930G>T (p.Gly2310=)
|
|
|
|
NM_152564.5(VPS13B):c.6951A>G (p.Pro2317=)
|
rs1175046825
|
|
|
NM_152564.5(VPS13B):c.6955C>T (p.Pro2319Ser)
|
|
|
|
NM_152564.5(VPS13B):c.6957T>C (p.Pro2319=)
|
|
|
|
NM_152564.5(VPS13B):c.6960A>G (p.Arg2320=)
|
rs1238316814
|
|
|
NM_152564.5(VPS13B):c.6962_6963delinsCG (p.Val2321Ala)
|
rs1833106696
|
|
|
NM_152564.5(VPS13B):c.6966C>T (p.Leu2322=)
|
|
|
|
NM_152564.5(VPS13B):c.6969C>G (p.Thr2323=)
|
rs2130343504
|
|
|
NM_152564.5(VPS13B):c.6969C>T (p.Thr2323=)
|
|
|
|
NM_152564.5(VPS13B):c.6970C>G (p.Leu2324Val)
|
rs2130343510
|
|
|
NM_152564.5(VPS13B):c.6979del (p.Arg2326_Ile2327insTer)
|
|
|
|
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs)
|
rs1554924412
|
|
|
NM_152564.5(VPS13B):c.6983C>T (p.Thr2328Ile)
|
|
|
|
NM_152564.5(VPS13B):c.6985C>G (p.Pro2329Ala)
|
|
|
|
NM_152564.5(VPS13B):c.6987T>C (p.Pro2329=)
|
rs2130343654
|
|
|
NM_152564.5(VPS13B):c.6988G>A (p.Val2330Ile)
|
|
|
|
NM_152564.5(VPS13B):c.6988G>T (p.Val2330Leu)
|
|
|
|
NM_152564.5(VPS13B):c.6990A>G (p.Val2330=)
|
|
|
|
NM_152564.5(VPS13B):c.6996T>C (p.Phe2332=)
|
|
|
|
NM_152564.5(VPS13B):c.6G>T (p.Leu2=)
|
rs752072948
|
|
|
NM_152564.5(VPS13B):c.7011T>C (p.Asp2337=)
|
|
|
|
NM_152564.5(VPS13B):c.7020del (p.Ser2341fs)
|
rs1833108141
|
|
|
NM_152564.5(VPS13B):c.7022G>A (p.Ser2341Asn)
|
rs2130343782
|
|
|
NM_152564.5(VPS13B):c.7032C>T (p.Asp2344=)
|
rs2130343837
|
|
|
NM_152564.5(VPS13B):c.7033C>G (p.Leu2345Val)
|
|
|
|
NM_152564.5(VPS13B):c.7040A>T (p.Asp2347Val)
|
rs1563881705
|
|
|
NM_152564.5(VPS13B):c.7041T>C (p.Asp2347=)
|
rs1253879066
|
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
|
NM_152564.5(VPS13B):c.7050+13C>G
|
|
|
|
NM_152564.5(VPS13B):c.7050+13C>T
|
|
|
|
NM_152564.5(VPS13B):c.7050+17C>A
|
|
|
|
NM_152564.5(VPS13B):c.7050+18A>G
|
|
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
|
NM_152564.5(VPS13B):c.7050+2243A>G
|
|
|
|
NM_152564.5(VPS13B):c.7050+5G>A
|
rs1302816737
|
|
|
NM_152564.5(VPS13B):c.7050+9T>C
|
|
|
|
NM_152564.5(VPS13B):c.7051-11T>C
|
|
|
|
NM_152564.5(VPS13B):c.7051-13T>A
|
|
|
|
NM_152564.5(VPS13B):c.7051-13del
|
|
|
|
NM_152564.5(VPS13B):c.7051-17T>G
|
|
|
|
NM_152564.5(VPS13B):c.7051-3dup
|
|
|
|
NM_152564.5(VPS13B):c.7051-5C>A
|
|
|
|
NM_152564.5(VPS13B):c.7051-7A>C
|
rs772934540
|
|
|
NM_152564.5(VPS13B):c.7062C>T (p.Ser2354=)
|
rs2130621143
|
|
|
NM_152564.5(VPS13B):c.706A>G (p.Thr236Ala)
|
rs1847346139
|
|
|
NM_152564.5(VPS13B):c.7071C>T (p.Tyr2357=)
|
|
|
|
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)
|
rs1057516559
|
|
|
NM_152564.5(VPS13B):c.7085A>G (p.Gln2362Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7086G>A (p.Gln2362=)
|
|
|
|
NM_152564.5(VPS13B):c.7088A>T (p.Lys2363Met)
|
|
|
|
NM_152564.5(VPS13B):c.7089G>A (p.Lys2363=)
|
|
|
|
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs)
|
rs1554948192
|
|
|
NM_152564.5(VPS13B):c.709_713del (p.Arg237fs)
|
|
|
|
NM_152564.5(VPS13B):c.7101A>G (p.Ala2367=)
|
|
|
|
NM_152564.5(VPS13B):c.7106G>A (p.Arg2369Lys)
|
|
|
|
NM_152564.5(VPS13B):c.7116T>A (p.Asn2372Lys)
|
|
|
|
NM_152564.5(VPS13B):c.7116T>C (p.Asn2372=)
|
|
|
|
NM_152564.5(VPS13B):c.7119G>A (p.Leu2373=)
|
|
|
|
NM_152564.5(VPS13B):c.7119G>C (p.Leu2373=)
|
|
|
|
NM_152564.5(VPS13B):c.7135del (p.Cys2379fs)
|
rs2130621458
|
|
|
NM_152564.5(VPS13B):c.7136G>T (p.Cys2379Phe)
|
rs1373068816
|
|
|
NM_152564.5(VPS13B):c.7137T>C (p.Cys2379=)
|
|
|
|
NM_152564.5(VPS13B):c.7141C>G (p.Leu2381Val)
|
|
|
|
NM_152564.5(VPS13B):c.7144C>T (p.Gln2382Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7146G>A (p.Gln2382=)
|
rs542396703
|
|
|
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs)
|
rs386834105
|
|
|
NM_152564.5(VPS13B):c.7147_7149del (p.Leu2383del)
|
rs2130621539
|
|
|
NM_152564.5(VPS13B):c.7151C>G (p.Pro2384Arg)
|
rs183874686
|
|
|
NM_152564.5(VPS13B):c.7153G>A (p.Asp2385Asn)
|
rs1347208371
|
|
|
NM_152564.5(VPS13B):c.7156A>T (p.Ile2386Phe)
|
rs370689956
|
|
|
NM_152564.5(VPS13B):c.7159A>C (p.Asn2387His)
|
rs915120404
|
|
|
NM_152564.5(VPS13B):c.7163T>A (p.Leu2388His)
|
|
|
|
NM_152564.5(VPS13B):c.7173C>T (p.Asp2391=)
|
|
|
|
NM_152564.5(VPS13B):c.7176G>A (p.Gln2392=)
|
|
|
|
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7179G>A (p.Lys2393=)
|
rs2130621684
|
|
|
NM_152564.5(VPS13B):c.7180A>G (p.Lys2394Glu)
|
|
|
|
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter)
|
rs1057516660
|
|
|
NM_152564.5(VPS13B):c.7184T>G (p.Leu2395Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7185A>G (p.Leu2395=)
|
|
|
|
NM_152564.5(VPS13B):c.7186G>A (p.Val2396Ile)
|
|
|
|
NM_152564.5(VPS13B):c.7190del (p.Ser2397fs)
|
|
|
|
NM_152564.5(VPS13B):c.7191_7192del (p.Ser2398fs)
|
rs1811255718
|
|
|
NM_152564.5(VPS13B):c.7195G>A (p.Asp2399Asn)
|
rs1563907935
|
|
|
NM_152564.5(VPS13B):c.7200T>G (p.Leu2400=)
|
|
|
|
NM_152564.5(VPS13B):c.7204A>G (p.Arg2402Gly)
|
|
|
|
NM_152564.5(VPS13B):c.7206A>G (p.Arg2402=)
|
rs2130621835
|
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
|
NM_152564.5(VPS13B):c.7218C>T (p.Asn2406=)
|
rs2130621889
|
|
|
NM_152564.5(VPS13B):c.721A>G (p.Thr241Ala)
|
|
|
|
NM_152564.5(VPS13B):c.7227A>G (p.Gln2409=)
|
rs2130621938
|
|
|
NM_152564.5(VPS13B):c.722C>T (p.Thr241Ile)
|
|
|
|
NM_152564.5(VPS13B):c.7231G>A (p.Gly2411Arg)
|
rs2130621965
|
|
|
NM_152564.5(VPS13B):c.7235C>G (p.Ala2412Gly)
|
rs780093448
|
|
|
NM_152564.5(VPS13B):c.7239T>C (p.Asp2413=)
|
|
|
|
NM_152564.5(VPS13B):c.723A>C (p.Thr241=)
|
rs778049327
|
|
|
NM_152564.5(VPS13B):c.7246A>C (p.Ser2416Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7247+10T>C
|
|
|
|
NM_152564.5(VPS13B):c.7247+11G>C
|
|
|
|
NM_152564.5(VPS13B):c.7247+12A>G
|
|
|
|
NM_152564.5(VPS13B):c.7247+15G>A
|
|
|
|
NM_152564.5(VPS13B):c.7247+17T>A
|
|
|
|
NM_152564.5(VPS13B):c.7247+17T>C
|
|
|
|
NM_152564.5(VPS13B):c.7247+18G>A
|
rs769448684
|
|
|
NM_152564.5(VPS13B):c.7247+19A>C
|
|
|
|
NM_152564.5(VPS13B):c.7247+19A>G
|
|
|
|
NM_152564.5(VPS13B):c.7247+2043_7403del
|
|
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
|
NM_152564.5(VPS13B):c.7247+8A>C
|
rs2130622077
|
|
|
NM_152564.5(VPS13B):c.7247+9T>A
|
|
|
|
NM_152564.5(VPS13B):c.7248-11C>A
|
|
|
|
NM_152564.5(VPS13B):c.7248-16C>T
|
|
|
|
NM_152564.5(VPS13B):c.7248-1G>C
|
rs763079458
|
|
|
NM_152564.5(VPS13B):c.7248-4A>G
|
rs2130667870
|
|
|
NM_152564.5(VPS13B):c.7248-6C>T
|
|
|
|
NM_152564.5(VPS13B):c.7248-9T>G
|
|
|
|
NM_152564.5(VPS13B):c.7250C>T (p.Ser2417Phe)
|
|
|
|
NM_152564.5(VPS13B):c.7259A>G (p.Glu2420Gly)
|
rs1811762443
|
|
|
NM_152564.5(VPS13B):c.725A>T (p.Tyr242Phe)
|
|
|
|
NM_152564.5(VPS13B):c.7263T>C (p.Ser2421=)
|
|
|
|
NM_152564.5(VPS13B):c.726T>C (p.Tyr242=)
|
|
|
|
NM_152564.5(VPS13B):c.7273A>C (p.Ser2425Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7276A>G (p.Thr2426Ala)
|
rs2130667997
|
|
|
NM_152564.5(VPS13B):c.7277C>G (p.Thr2426Ser)
|
rs1811763232
|
|
|
NM_152564.5(VPS13B):c.728A>G (p.Glu243Gly)
|
|
|
|
NM_152564.5(VPS13B):c.7293G>A (p.Val2431=)
|
|
|
|
NM_152564.5(VPS13B):c.7295C>T (p.Thr2432Ile)
|
rs2130668061
|
|
|
NM_152564.5(VPS13B):c.7299A>G (p.Pro2433=)
|
rs2130668083
|
|
|
NM_152564.5(VPS13B):c.7302A>G (p.Thr2434=)
|
rs1811764109
|
|
|
NM_152564.5(VPS13B):c.7305C>T (p.Ala2435=)
|
|
|
|
NM_152564.5(VPS13B):c.7306C>T (p.Leu2436=)
|
|
|
|
NM_152564.5(VPS13B):c.7308G>T (p.Leu2436=)
|
|
|
|
NM_152564.5(VPS13B):c.7311T>G (p.Ala2437=)
|
rs2130668146
|
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
|
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs)
|
rs1554952467
|
|
|
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7326T>A (p.Val2442=)
|
rs2130668217
|
|
|
NM_152564.5(VPS13B):c.7326T>C (p.Val2442=)
|
|
|
|
NM_152564.5(VPS13B):c.7329C>T (p.Asp2443=)
|
rs2130668225
|
|
|
NM_152564.5(VPS13B):c.7330T>A (p.Ser2444Thr)
|
rs373779146
|
|
|
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser)
|
|
|
|
NM_152564.5(VPS13B):c.7344A>G (p.Pro2448=)
|
|
|
|
NM_152564.5(VPS13B):c.7344A>T (p.Pro2448=)
|
|
|
|
NM_152564.5(VPS13B):c.7347G>T (p.Trp2449Cys)
|
|
|
|
NM_152564.5(VPS13B):c.7351G>A (p.Val2451Ile)
|
|
|
|
NM_152564.5(VPS13B):c.7353C>T (p.Val2451=)
|
rs1232917163
|
|
|
NM_152564.5(VPS13B):c.735A>G (p.Leu245=)
|
|
|
|
NM_152564.5(VPS13B):c.7362T>C (p.Leu2454=)
|
rs2130668372
|
|
|
NM_152564.5(VPS13B):c.7362T>G (p.Leu2454=)
|
|
|
|
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs)
|
rs1811766430
|
|
|
NM_152564.5(VPS13B):c.7367T>C (p.Val2456Ala)
|
rs1811766657
|
|
|
NM_152564.5(VPS13B):c.7370C>G (p.Ser2457Cys)
|
rs773594659
|
|
|
NM_152564.5(VPS13B):c.7374C>T (p.Phe2458=)
|
|
|
|
NM_152564.5(VPS13B):c.738T>C (p.Asn246=)
|
|
|
|
NM_152564.5(VPS13B):c.7395C>T (p.Phe2465=)
|
rs2130668529
|
|
|
NM_152564.5(VPS13B):c.7396del (p.His2466fs)
|
rs1554952554
|
|
|
NM_152564.5(VPS13B):c.7406A>G (p.His2469Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7410C>T (p.His2470=)
|
|
|
|
NM_152564.5(VPS13B):c.7416C>T (p.Asp2472=)
|
|
|
|
NM_152564.5(VPS13B):c.7422A>C (p.Leu2474=)
|
|
|
|
NM_152564.5(VPS13B):c.7423G>C (p.Gly2475Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7424G>A (p.Gly2475Asp)
|
rs2130668636
|
|
|
NM_152564.5(VPS13B):c.7426A>G (p.Thr2476Ala)
|
rs2130668658
|
|
|
NM_152564.5(VPS13B):c.7427C>A (p.Thr2476Lys)
|
rs2130668663
|
|
|
NM_152564.5(VPS13B):c.7429+11T>C
|
rs1811770416
|
|
|
NM_152564.5(VPS13B):c.7429+13T>A
|
|
|
|
NM_152564.5(VPS13B):c.7429+14del
|
|
|
|
NM_152564.5(VPS13B):c.7429+14dup
|
rs747441995
|
|
|
NM_152564.5(VPS13B):c.7429+15A>T
|
rs1002318603
|
|
|
NM_152564.5(VPS13B):c.7429+17C>G
|
|
|
|
NM_152564.5(VPS13B):c.7429+17C>T
|
|
|
|
NM_152564.5(VPS13B):c.7429+18A>C
|
rs374929892
|
|
|
NM_152564.5(VPS13B):c.7429+2T>C
|
rs1057517393
|
|
|
NM_152564.5(VPS13B):c.7429+3A>G
|
rs1811769162
|
|
|
NM_152564.5(VPS13B):c.7429+6C>T
|
rs1563912462
|
|
|
NM_152564.5(VPS13B):c.7429+7T>C
|
rs2130668728
|
|
|
NM_152564.5(VPS13B):c.7430-13_7430-10del
|
rs1194238958
|
|
|
NM_152564.5(VPS13B):c.7430-14T>C
|
|
|
|
NM_152564.5(VPS13B):c.7430-17G>C
|
|
|
|
NM_152564.5(VPS13B):c.7430-7T>G
|
|
|
|
NM_152564.5(VPS13B):c.7430C>T (p.Ala2477Val)
|
rs761890013
|
|
|
NM_152564.5(VPS13B):c.7437A>G (p.Pro2479=)
|
|
|
|
NM_152564.5(VPS13B):c.7446A>G (p.Leu2482=)
|
|
|
|
NM_152564.5(VPS13B):c.7447C>T (p.Gln2483Ter)
|
rs980463746
|
|
|
NM_152564.5(VPS13B):c.7449G>A (p.Gln2483=)
|
|
|
|
NM_152564.5(VPS13B):c.744G>T (p.Lys248Asn)
|
rs2132482090
|
|
|
NM_152564.5(VPS13B):c.7453T>C (p.Phe2485Leu)
|
rs1811864935
|
|
|
NM_152564.5(VPS13B):c.7461C>T (p.Ser2487=)
|
rs751190453
|
|
|
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn)
|
rs780602782
|
|
|
NM_152564.5(VPS13B):c.7464C>T (p.Asp2488=)
|
rs990040393
|
|
|
NM_152564.5(VPS13B):c.7466G>T (p.Arg2489Ile)
|
rs1438199361
|
|
|
NM_152564.5(VPS13B):c.746T>C (p.Met249Thr)
|
rs1251254222
|
|
|
NM_152564.5(VPS13B):c.7472T>G (p.Met2491Arg)
|
rs1588704212
|
|
|
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7491C>T (p.Tyr2497=)
|
|
|
|
NM_152564.5(VPS13B):c.7498_7501del (p.Val2500fs)
|
|
|
|
NM_152564.5(VPS13B):c.74A>T (p.Asp25Val)
|
rs1841449266
|
|
|
NM_152564.5(VPS13B):c.7503C>T (p.Ser2501=)
|
rs2130678510
|
|
|
NM_152564.5(VPS13B):c.7508G>A (p.Arg2503Lys)
|
rs2130678538
|
|
|
NM_152564.5(VPS13B):c.7509A>G (p.Arg2503=)
|
rs2130678548
|
|
|
NM_152564.5(VPS13B):c.7518C>T (p.His2506=)
|
|
|
|
NM_152564.5(VPS13B):c.7520T>C (p.Met2507Thr)
|
|
|
|
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val)
|
rs1811867338
|
|
|
NM_152564.5(VPS13B):c.7527T>A (p.Leu2509=)
|
|
|
|
NM_152564.5(VPS13B):c.7533G>A (p.Gln2511=)
|
|
|
|
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter)
|
rs386834108
|
|
|
NM_152564.5(VPS13B):c.7536G>C (p.Trp2512Cys)
|
rs1434963421
|
|
|
NM_152564.5(VPS13B):c.7536G>T (p.Trp2512Cys)
|
rs1434963421
|
|
|
NM_152564.5(VPS13B):c.7540A>G (p.Asn2514Asp)
|
rs1811867927
|
|
|
NM_152564.5(VPS13B):c.7545T>A (p.Gly2515=)
|
rs2130678759
|
|
|
NM_152564.5(VPS13B):c.7547C>G (p.Ser2516Cys)
|
rs2130678778
|
|
|
NM_152564.5(VPS13B):c.7549G>A (p.Val2517Ile)
|
rs946554822
|
|
|
NM_152564.5(VPS13B):c.7551C>A (p.Val2517=)
|
rs1811868664
|
|
|
NM_152564.5(VPS13B):c.7552T>C (p.Cys2518Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7554T>C (p.Cys2518=)
|
|
|
|
NM_152564.5(VPS13B):c.7555C>T (p.Gln2519Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7558G>T (p.Glu2520Ter)
|
rs2130678821
|
|
|
NM_152564.5(VPS13B):c.7564del (p.Gln2522fs)
|
|
|
|
NM_152564.5(VPS13B):c.7565A>G (p.Gln2522Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7568_7569delinsAA (p.Phe2523Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7569C>T (p.Phe2523=)
|
rs776907826
|
|
|
NM_152564.5(VPS13B):c.7576C>G (p.Gln2526Glu)
|
|
|
|
NM_152564.5(VPS13B):c.7576C>T (p.Gln2526Ter)
|
rs1811869155
|
|
|
NM_152564.5(VPS13B):c.7594C>G (p.Leu2532Val)
|
|
|
|
NM_152564.5(VPS13B):c.7599G>A (p.Glu2533=)
|
|
|
|
NM_152564.5(VPS13B):c.75T>C (p.Asp25=)
|
|
|
|
NM_152564.5(VPS13B):c.7603A>C (p.Arg2535=)
|
rs2130678967
|
|
|
NM_152564.5(VPS13B):c.7606A>G (p.Asn2536Asp)
|
rs979347048
|
|
|
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter)
|
rs910393433
|
|
|
NM_152564.5(VPS13B):c.7610T>C (p.Val2537Ala)
|
rs751188155
|
|
|
NM_152564.5(VPS13B):c.7610T>G (p.Val2537Gly)
|
|
|
|
NM_152564.5(VPS13B):c.7616T>G (p.Met2539Arg)
|
rs1290655527
|
|
|
NM_152564.5(VPS13B):c.7617G>A (p.Met2539Ile)
|
|
|
|
NM_152564.5(VPS13B):c.7618C>G (p.Gln2540Glu)
|
|
|
|
NM_152564.5(VPS13B):c.761A>G (p.Lys254Arg)
|
|
|
|
NM_152564.5(VPS13B):c.762+11C>T
|
|
|
|
NM_152564.5(VPS13B):c.762+11_762+12insA
|
|
|
|
NM_152564.5(VPS13B):c.762+19dup
|
rs770716174
|
|
|
NM_152564.5(VPS13B):c.762+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.762+20_762+21delinsAA
|
|
|
|
NM_152564.5(VPS13B):c.762+2T>C
|
rs1588048848
|
|
|
NM_152564.5(VPS13B):c.762+4G>A
|
rs2132482160
|
|
|
NM_152564.5(VPS13B):c.762+5G>T
|
rs1847351205
|
|
|
NM_152564.5(VPS13B):c.762+5_762+6dup
|
rs2132482179
|
|
|
NM_152564.5(VPS13B):c.762+7A>G
|
|
|
|
NM_152564.5(VPS13B):c.7624GTG[1] (p.Val2543del)
|
rs1811870870
|
|
|
NM_152564.5(VPS13B):c.7625T>C (p.Val2542Ala)
|
rs2130679096
|
|
|
NM_152564.5(VPS13B):c.7627G>T (p.Val2543Leu)
|
|
|
|
NM_152564.5(VPS13B):c.7629G>T (p.Val2543=)
|
|
|
|
NM_152564.5(VPS13B):c.763-18G>A
|
|
|
|
NM_152564.5(VPS13B):c.763-1G>T
|
|
|
|
NM_152564.5(VPS13B):c.763-20A>G
|
|
|
|
NM_152564.5(VPS13B):c.763-2118G>T
|
|
|
|
NM_152564.5(VPS13B):c.763-5T>C
|
rs1847622951
|
|
|
NM_152564.5(VPS13B):c.7634C>T (p.Pro2545Leu)
|
|
|
|
NM_152564.5(VPS13B):c.7648G>A (p.Gly2550Arg)
|
|
|
|
NM_152564.5(VPS13B):c.7650G>A (p.Gly2550=)
|
|
|
|
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)
|
rs2130679206
|
|
|
NM_152564.5(VPS13B):c.7657G>A (p.Ala2553Thr)
|
|
|
|
NM_152564.5(VPS13B):c.7658C>T (p.Ala2553Val)
|
rs2130679255
|
|
|
NM_152564.5(VPS13B):c.7659A>G (p.Ala2553=)
|
rs776995646
|
|
|
NM_152564.5(VPS13B):c.7659A>T (p.Ala2553=)
|
rs776995646
|
|
|
NM_152564.5(VPS13B):c.7665C>T (p.Ser2555=)
|
rs2130679322
|
|
|
NM_152564.5(VPS13B):c.7671T>C (p.Asp2557=)
|
rs1414554416
|
|
|
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
|
|
|
|
NM_152564.5(VPS13B):c.7677G>A (p.Val2559=)
|
rs373165767
|
|
|
NM_152564.5(VPS13B):c.7683G>A (p.Lys2561=)
|
|
|
|
NM_152564.5(VPS13B):c.7683G>T (p.Lys2561Asn)
|
rs1205859728
|
|
|
NM_152564.5(VPS13B):c.7683del (p.Lys2561fs)
|
rs771308343
|
|
|
NM_152564.5(VPS13B):c.7684C>T (p.Leu2562=)
|
rs1001869077
|
|
|
NM_152564.5(VPS13B):c.7689T>C (p.Leu2563=)
|
rs2130679519
|
|
|
NM_152564.5(VPS13B):c.7691A>G (p.Asp2564Gly)
|
rs2130679527
|
|
|
NM_152564.5(VPS13B):c.7692C>T (p.Asp2564=)
|
|
|
|
NM_152564.5(VPS13B):c.7696A>G (p.Thr2566Ala)
|
|
|
|
NM_152564.5(VPS13B):c.7703T>C (p.Ile2568Thr)
|
rs1811877032
|
|
|
NM_152564.5(VPS13B):c.7706T>C (p.Val2569Ala)
|
rs1434588029
|
|
|
NM_152564.5(VPS13B):c.7713T>C (p.Ser2571=)
|
|
|
|
NM_152564.5(VPS13B):c.7713T>G (p.Ser2571=)
|
|
|
|
NM_152564.5(VPS13B):c.7728T>C (p.Leu2576=)
|
|
|
|
NM_152564.5(VPS13B):c.7731A>G (p.Gly2577=)
|
rs921182844
|
|
|
NM_152564.5(VPS13B):c.7732C>T (p.Gln2578Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7734_7746del (p.Gln2578fs)
|
rs2130679794
|
|
|
NM_152564.5(VPS13B):c.7737T>A (p.His2579Gln)
|
rs147593451
|
|
|
NM_152564.5(VPS13B):c.7740A>C (p.Val2580=)
|
rs1281733005
|
|
|
NM_152564.5(VPS13B):c.7749A>G (p.Ser2583=)
|
|
|
|
NM_152564.5(VPS13B):c.7750C>G (p.Leu2584Val)
|
rs774362514
|
|
|
NM_152564.5(VPS13B):c.7750C>T (p.Leu2584=)
|
|
|
|
NM_152564.5(VPS13B):c.7777del (p.Gln2593fs)
|
rs2130680017
|
|
|
NM_152564.5(VPS13B):c.7779+1G>C
|
|
|
|
NM_152564.5(VPS13B):c.7779+1G>T
|
|
|
|
NM_152564.5(VPS13B):c.7779+5G>T
|
rs1454252779
|
|
|
NM_152564.5(VPS13B):c.7779+8C>T
|
|
|
|
NM_152564.5(VPS13B):c.7779+9A>G
|
|
|
|
NM_152564.5(VPS13B):c.7779G>A (p.Gln2593=)
|
rs796478997
|
|
|
NM_152564.5(VPS13B):c.7779G>C (p.Gln2593His)
|
|
|
|
NM_152564.5(VPS13B):c.777G>C (p.Val259=)
|
rs2132497634
|
|
|
NM_152564.5(VPS13B):c.7780-16A>G
|
|
|
|
NM_152564.5(VPS13B):c.7780-18G>A
|
rs781012951
|
|
|
NM_152564.5(VPS13B):c.7780-22_7780-19del
|
|
|
|
NM_152564.5(VPS13B):c.7780-7C>T
|
|
|
|
NM_152564.5(VPS13B):c.7780-8T>C
|
|
|
|
NM_152564.5(VPS13B):c.7780-9T>C
|
rs1177759534
|
|
|
NM_152564.5(VPS13B):c.7797A>G (p.Val2599=)
|
rs760168037
|
|
|
NM_152564.5(VPS13B):c.7815C>T (p.Ser2605=)
|
|
|
|
NM_152564.5(VPS13B):c.7820T>C (p.Phe2607Ser)
|
|
|
|
NM_152564.5(VPS13B):c.7821T>C (p.Phe2607=)
|
rs1229910112
|
|
|
NM_152564.5(VPS13B):c.7828del (p.Cys2610fs)
|
rs1812158350
|
|
|
NM_152564.5(VPS13B):c.7833T>C (p.Asn2611=)
|
|
|
|
NM_152564.5(VPS13B):c.7840C>A (p.Gln2614Lys)
|
|
|
|
NM_152564.5(VPS13B):c.7845G>A (p.Glu2615=)
|
rs2130702451
|
|
|
NM_152564.5(VPS13B):c.7847C>T (p.Thr2616Ile)
|
rs1812159282
|
|
|
NM_152564.5(VPS13B):c.7849C>T (p.Leu2617=)
|
|
|
|
NM_152564.5(VPS13B):c.7850T>C (p.Leu2617Pro)
|
rs1563916076
|
|
|
NM_152564.5(VPS13B):c.7852C>A (p.Arg2618=)
|
rs779101063
|
|
|
NM_152564.5(VPS13B):c.7852C>T (p.Arg2618Trp)
|
|
|
|
NM_152564.5(VPS13B):c.7854G>A (p.Arg2618=)
|
|
|
|
NM_152564.5(VPS13B):c.7854G>T (p.Arg2618=)
|
|
|
|
NM_152564.5(VPS13B):c.7859G>A (p.Gly2620Asp)
|
rs120074153
|
|
|
NM_152564.5(VPS13B):c.7860C>A (p.Gly2620=)
|
|
|
|
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs)
|
rs386834109
|
|
|
NM_152564.5(VPS13B):c.7864del (p.Val2622fs)
|
|
|
|
NM_152564.5(VPS13B):c.7880A>C (p.Asn2627Thr)
|
rs886062544
|
|
|
NM_152564.5(VPS13B):c.7890G>A (p.Leu2630=)
|
|
|
|
NM_152564.5(VPS13B):c.7896T>C (p.Ser2632=)
|
rs1563916146
|
|
|
NM_152564.5(VPS13B):c.7911G>A (p.Gln2637=)
|
rs2130702705
|
|
|
NM_152564.5(VPS13B):c.7917C>T (p.Ser2639=)
|
rs2130702727
|
|
|
NM_152564.5(VPS13B):c.7919G>A (p.Trp2640Ter)
|
rs2130702734
|
|
|
NM_152564.5(VPS13B):c.7926T>A (p.Ser2642=)
|
|
|
|
NM_152564.5(VPS13B):c.7926T>C (p.Ser2642=)
|
|
|
|
NM_152564.5(VPS13B):c.7929C>T (p.His2643=)
|
rs2130702779
|
|
|
NM_152564.5(VPS13B):c.7934C>G (p.Ser2645Cys)
|
rs1812163324
|
|
|
NM_152564.5(VPS13B):c.7941+12A>G
|
rs1275998375
|
|
|
NM_152564.5(VPS13B):c.7941+15C>A
|
|
|
|
NM_152564.5(VPS13B):c.7941+16C>A
|
rs1484297251
|
|
|
NM_152564.5(VPS13B):c.7941+18T>A
|
|
|
|
NM_152564.5(VPS13B):c.7941+18T>C
|
|
|
|
NM_152564.5(VPS13B):c.7941+1G>A
|
rs1554955952
|
|
|
NM_152564.5(VPS13B):c.7941+20_7941+42del
|
rs769286340
|
|
|
NM_152564.5(VPS13B):c.7941+6T>C
|
|
|
|
NM_152564.5(VPS13B):c.7941+7G>C
|
rs764563210
|
|
|
NM_152564.5(VPS13B):c.7941+9G>A
|
|
|
|
NM_152564.5(VPS13B):c.7942-12T>C
|
|
|
|
NM_152564.5(VPS13B):c.7942-16T>C
|
|
|
|
NM_152564.5(VPS13B):c.7942-4C>G
|
|
|
|
NM_152564.5(VPS13B):c.7942-6dup
|
rs2130785582
|
|
|
NM_152564.5(VPS13B):c.7942-7dup
|
|
|
|
NM_152564.5(VPS13B):c.7942-8T>G
|
|
|
|
NM_152564.5(VPS13B):c.7942C>G (p.Leu2648Val)
|
rs765442907
|
|
|
NM_152564.5(VPS13B):c.7942C>T (p.Leu2648=)
|
|
|
|
NM_152564.5(VPS13B):c.7946T>A (p.Leu2649Ter)
|
rs2130785617
|
|
|
NM_152564.5(VPS13B):c.7951A>G (p.Ile2651Val)
|
rs1588732028
|
|
|
NM_152564.5(VPS13B):c.7953C>A (p.Ile2651=)
|
rs2130785637
|
|
|
NM_152564.5(VPS13B):c.7954T>G (p.Cys2652Gly)
|
|
|
|
NM_152564.5(VPS13B):c.7958T>C (p.Ile2653Thr)
|
rs1813583407
|
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
|
NM_152564.5(VPS13B):c.7960G>A (p.Glu2654Lys)
|
rs2130785652
|
|
|
NM_152564.5(VPS13B):c.7963G>C (p.Gly2655Arg)
|
rs1433870539
|
|
|
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs)
|
rs1554560668
|
|
|
NM_152564.5(VPS13B):c.7965T>A (p.Gly2655=)
|
rs758430817
|
|
|
NM_152564.5(VPS13B):c.7969_7983del (p.Gly2657_Trp2661del)
|
rs1554560677
|
|
|
NM_152564.5(VPS13B):c.7980T>A (p.Arg2660=)
|
|
|
|
NM_152564.5(VPS13B):c.7980T>C (p.Arg2660=)
|
|
|
|
NM_152564.5(VPS13B):c.7980T>G (p.Arg2660=)
|
|
|
|
NM_152564.5(VPS13B):c.7982G>A (p.Trp2661Ter)
|
|
|
|
NM_152564.5(VPS13B):c.7985C>G (p.Ser2662Ter)
|
rs1813585665
|
|
|
NM_152564.5(VPS13B):c.7986A>G (p.Ser2662=)
|
rs2130785744
|
|
|
NM_152564.5(VPS13B):c.7989G>A (p.Glu2663=)
|
|
|
|
NM_152564.5(VPS13B):c.7995C>G (p.Phe2665Leu)
|
|
|
|
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8001G>A (p.Val2667=)
|
|
|
|
NM_152564.5(VPS13B):c.8015del (p.Thr2672fs)
|
|
|
|
NM_152564.5(VPS13B):c.8022T>C (p.Ile2674=)
|
|
|
|
NM_152564.5(VPS13B):c.8032C>T (p.Gln2678Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8034G>T (p.Gln2678His)
|
|
|
|
NM_152564.5(VPS13B):c.8035T>C (p.Tyr2679His)
|
|
|
|
NM_152564.5(VPS13B):c.803del (p.Asp268fs)
|
rs1554622622
|
|
|
NM_152564.5(VPS13B):c.8040G>A (p.Arg2680=)
|
|
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
|
NM_152564.5(VPS13B):c.8049T>A (p.Thr2683=)
|
rs765550072
|
|
|
NM_152564.5(VPS13B):c.8058C>T (p.Leu2686=)
|
rs1813589023
|
|
|
NM_152564.5(VPS13B):c.8060T>C (p.Ile2687Thr)
|
rs2130785937
|
|
|
NM_152564.5(VPS13B):c.8061C>G (p.Ile2687Met)
|
|
|
|
NM_152564.5(VPS13B):c.8068G>T (p.Val2690Phe)
|
|
|
|
NM_152564.5(VPS13B):c.8070T>C (p.Val2690=)
|
rs2130785985
|
|
|
NM_152564.5(VPS13B):c.8070del (p.Gln2691fs)
|
rs1813589674
|
|
|
NM_152564.5(VPS13B):c.8073G>A (p.Gln2691=)
|
rs2130785995
|
|
|
NM_152564.5(VPS13B):c.8074C>G (p.Gln2692Glu)
|
|
|
|
NM_152564.5(VPS13B):c.8075A>C (p.Gln2692Pro)
|
rs1588732177
|
|
|
NM_152564.5(VPS13B):c.8077C>T (p.Leu2693Phe)
|
rs984666923
|
|
|
NM_152564.5(VPS13B):c.807A>G (p.Gln269=)
|
rs775213704
|
|
|
NM_152564.5(VPS13B):c.8081A>G (p.Asn2694Ser)
|
|
|
|
NM_152564.5(VPS13B):c.8097+12del
|
|
|
|
NM_152564.5(VPS13B):c.8097+18C>G
|
|
|
|
NM_152564.5(VPS13B):c.8097+20T>C
|
|
|
|
NM_152564.5(VPS13B):c.8097+7T>G
|
|
|
|
NM_152564.5(VPS13B):c.8098-19A>G
|
|
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
|
NM_152564.5(VPS13B):c.8098-7C>T
|
|
|
|
NM_152564.5(VPS13B):c.8098-8T>A
|
|
|
|
NM_152564.5(VPS13B):c.8098-9G>A
|
|
|
|
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg)
|
rs1587912461
|
|
|
NM_152564.5(VPS13B):c.8106C>T (p.Ile2702=)
|
|
|
|
NM_152564.5(VPS13B):c.8107T>C (p.Cys2703Arg)
|
rs2130810579
|
|
|
NM_152564.5(VPS13B):c.810A>G (p.Gln270=)
|
rs1169945660
|
|
|
NM_152564.5(VPS13B):c.8121C>G (p.Ile2707Met)
|
|
|
|
NM_152564.5(VPS13B):c.8126G>A (p.Cys2709Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.812T>G (p.Leu271Arg)
|
|
|
|
NM_152564.5(VPS13B):c.8133C>G (p.Tyr2711Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8133C>T (p.Tyr2711=)
|
|
|
|
NM_152564.5(VPS13B):c.8136G>A (p.Leu2712=)
|
|
|
|
NM_152564.5(VPS13B):c.8140C>T (p.Gln2714Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8142A>T (p.Gln2714His)
|
|
|
|
NM_152564.5(VPS13B):c.8143dup (p.Ser2715fs)
|
rs2130810644
|
|
|
NM_152564.5(VPS13B):c.8160C>T (p.Val2720=)
|
rs373348061
|
|
|
NM_152564.5(VPS13B):c.816T>C (p.Pro272=)
|
|
|
|
NM_152564.5(VPS13B):c.816dup (p.Met273fs)
|
rs1554622647
|
|
|
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs)
|
rs1554565537
|
|
|
NM_152564.5(VPS13B):c.817A>G (p.Met273Val)
|
|
|
|
NM_152564.5(VPS13B):c.817_818del (p.Met273fs)
|
rs2132497770
|
|
|
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs)
|
rs1554565558
|
|
|
NM_152564.5(VPS13B):c.8194del (p.Ala2731_Val2732insTer)
|
|
|
|
NM_152564.5(VPS13B):c.8205A>G (p.Glu2735=)
|
|
|
|
NM_152564.5(VPS13B):c.8206_8207dup (p.Phe2737fs)
|
|
|
|
NM_152564.5(VPS13B):c.8215dup (p.Cys2739fs)
|
|
|
|
NM_152564.5(VPS13B):c.821T>G (p.Phe274Cys)
|
rs1847625470
|
|
|
NM_152564.5(VPS13B):c.8228A>G (p.Lys2743Arg)
|
|
|
|
NM_152564.5(VPS13B):c.8229A>G (p.Lys2743=)
|
rs2130810840
|
|
|
NM_152564.5(VPS13B):c.8230C>T (p.Gln2744Ter)
|
rs2130810847
|
|
|
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu)
|
rs180177370
|
|
|
NM_152564.5(VPS13B):c.8247C>T (p.Tyr2749=)
|
|
|
|
NM_152564.5(VPS13B):c.8250A>C (p.Ile2750=)
|
|
|
|
NM_152564.5(VPS13B):c.8253A>G (p.Leu2751=)
|
|
|
|
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln)
|
|
|
|
NM_152564.5(VPS13B):c.8255A>G (p.Glu2752Gly)
|
rs1563488856
|
|
|
NM_152564.5(VPS13B):c.8262T>C (p.Asn2754=)
|
|
|
|
NM_152564.5(VPS13B):c.8266C>G (p.Leu2756Val)
|
|
|
|
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer)
|
rs386834111
|
|
|
NM_152564.5(VPS13B):c.8268G>A (p.Leu2756=)
|
|
|
|
NM_152564.5(VPS13B):c.8268G>C (p.Leu2756=)
|
|
|
|
NM_152564.5(VPS13B):c.8269A>G (p.Thr2757Ala)
|
rs750066675
|
|
|
NM_152564.5(VPS13B):c.8274G>A (p.Glu2758=)
|
rs2130810962
|
|
|
NM_152564.5(VPS13B):c.8277G>A (p.Leu2759=)
|
|
|
|
NM_152564.5(VPS13B):c.8277G>C (p.Leu2759=)
|
rs1232285251
|
|
|
NM_152564.5(VPS13B):c.8281G>T (p.Val2761Leu)
|
rs886062545
|
|
|
NM_152564.5(VPS13B):c.8285del (p.Lys2762fs)
|
|
|
|
NM_152564.5(VPS13B):c.8287del (p.Ala2763fs)
|
rs1554565645
|
|
|
NM_152564.5(VPS13B):c.8292A>G (p.Lys2764=)
|
rs2130810986
|
|
|
NM_152564.5(VPS13B):c.8297A>T (p.Asp2766Val)
|
|
|
|
NM_152564.5(VPS13B):c.8298T>C (p.Asp2766=)
|
rs1563488890
|
|
|
NM_152564.5(VPS13B):c.8300A>C (p.Glu2767Ala)
|
|
|
|
NM_152564.5(VPS13B):c.8309C>G (p.Ser2770Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8313A>G (p.Arg2771=)
|
|
|
|
NM_152564.5(VPS13B):c.8316T>C (p.Asp2772=)
|
|
|
|
NM_152564.5(VPS13B):c.8319G>A (p.Val2773=)
|
rs2130811053
|
|
|
NM_152564.5(VPS13B):c.8323C>T (p.Leu2775=)
|
rs1814130701
|
|
|
NM_152564.5(VPS13B):c.832A>T (p.Met278Leu)
|
|
|
|
NM_152564.5(VPS13B):c.8330C>T (p.Ser2777Phe)
|
rs2130811098
|
|
|
NM_152564.5(VPS13B):c.8337C>A (p.Ala2779=)
|
rs1177301291
|
|
|
NM_152564.5(VPS13B):c.8339C>G (p.Pro2780Arg)
|
|
|
|
NM_152564.5(VPS13B):c.8341G>T (p.Glu2781Ter)
|
rs1379711249
|
|
|
NM_152564.5(VPS13B):c.8346C>T (p.Tyr2782=)
|
|
|
|
NM_152564.5(VPS13B):c.8346_8350del (p.Ser2783fs)
|
|
|
|
NM_152564.5(VPS13B):c.8352T>C (p.Ile2784=)
|
|
|
|
NM_152564.5(VPS13B):c.8355C>T (p.Val2785=)
|
|
|
|
NM_152564.5(VPS13B):c.8361+15T>C
|
|
|
|
NM_152564.5(VPS13B):c.8361+18A>G
|
rs1301774020
|
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
|
NM_152564.5(VPS13B):c.8361+20C>G
|
|
|
|
NM_152564.5(VPS13B):c.8361+3T>C
|
|
|
|
NM_152564.5(VPS13B):c.8362-1G>C
|
|
|
|
NM_152564.5(VPS13B):c.8362-5_8362-4del
|
rs2130812960
|
|
|
NM_152564.5(VPS13B):c.8362-6G>A
|
rs1294053663
|
|
|
NM_152564.5(VPS13B):c.8362-6G>T
|
rs1294053663
|
|
|
NM_152564.5(VPS13B):c.8362-8A>C
|
rs767065362
|
|
|
NM_152564.5(VPS13B):c.8362-8A>G
|
rs767065362
|
|
|
NM_152564.5(VPS13B):c.8362-8A>T
|
rs767065362
|
|
|
NM_152564.5(VPS13B):c.8362G>T (p.Val2788Leu)
|
|
|
|
NM_152564.5(VPS13B):c.8365C>T (p.Pro2789Ser)
|
rs1814171272
|
|
|
NM_152564.5(VPS13B):c.8367A>G (p.Pro2789=)
|
|
|
|
NM_152564.5(VPS13B):c.8369C>T (p.Ser2790Phe)
|
|
|
|
NM_152564.5(VPS13B):c.8374A>T (p.Asn2792Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.8381C>A (p.Ser2794Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.8382C>G (p.Ser2794=)
|
rs1350773456
|
|
|
NM_152564.5(VPS13B):c.8384T>C (p.Ile2795Thr)
|
rs120074155
|
|
|
NM_152564.5(VPS13B):c.8386dup (p.Ile2796fs)
|
|
|
|
NM_152564.5(VPS13B):c.8394C>A (p.Val2798=)
|
|
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
|
NM_152564.5(VPS13B):c.8405T>C (p.Val2802Ala)
|
rs1814173866
|
|
|
NM_152564.5(VPS13B):c.840T>G (p.Leu280=)
|
|
|
|
NM_152564.5(VPS13B):c.8414T>C (p.Leu2805Ser)
|
|
|
|
NM_152564.5(VPS13B):c.8420_8426delinsGA (p.Pro2807fs)
|
|
|
|
NM_152564.5(VPS13B):c.8421C>G (p.Pro2807=)
|
rs1252949783
|
|
|
NM_152564.5(VPS13B):c.8421del (p.Asn2808fs)
|
rs1588743576
|
|
|
NM_152564.5(VPS13B):c.8423A>T (p.Asn2808Ile)
|
|
|
|
NM_152564.5(VPS13B):c.8430del (p.Val2811fs)
|
rs2130813174
|
|
|
NM_152564.5(VPS13B):c.8435A>T (p.Gln2812Leu)
|
rs1814175380
|
|
|
NM_152564.5(VPS13B):c.8436A>G (p.Gln2812=)
|
|
|
|
NM_152564.5(VPS13B):c.8437C>T (p.Gln2813Ter)
|
rs2130813187
|
|
|
NM_152564.5(VPS13B):c.8439A>G (p.Gln2813=)
|
rs773210498
|
|
|
NM_152564.5(VPS13B):c.8443A>G (p.Met2815Val)
|
rs989835229
|
|
|
NM_152564.5(VPS13B):c.8444T>G (p.Met2815Arg)
|
rs1427709841
|
|
|
NM_152564.5(VPS13B):c.8445+13C>T
|
|
|
|
NM_152564.5(VPS13B):c.8445+14C>T
|
rs1814177467
|
|
|
NM_152564.5(VPS13B):c.8445+15A>C
|
|
|
|
NM_152564.5(VPS13B):c.8445+16A>G
|
|
|
|
NM_152564.5(VPS13B):c.8445+1G>C
|
|
|
|
NM_152564.5(VPS13B):c.8445+2T>C
|
rs1554566396
|
|
|
NM_152564.5(VPS13B):c.8445+7G>A
|
rs2130813249
|
|
|
NM_152564.5(VPS13B):c.8445+8C>G
|
|
|
|
NM_152564.5(VPS13B):c.8446-10A>C
|
|
|
|
NM_152564.5(VPS13B):c.8446-10_8446-6del
|
rs773159446
|
|
|
NM_152564.5(VPS13B):c.8446-16C>A
|
|
|
|
NM_152564.5(VPS13B):c.8446-18A>G
|
|
|
|
NM_152564.5(VPS13B):c.8446-18_8446-14del
|
rs767236603
|
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
|
NM_152564.5(VPS13B):c.8446-20C>A
|
|
|
|
NM_152564.5(VPS13B):c.8446-5del
|
rs760534492
|
|
|
NM_152564.5(VPS13B):c.8446-6T>G
|
|
|
|
NM_152564.5(VPS13B):c.8446A>G (p.Ile2816Val)
|
rs373961820
|
|
|
NM_152564.5(VPS13B):c.8449G>A (p.Val2817Met)
|
rs1362379578
|
|
|
NM_152564.5(VPS13B):c.8460T>G (p.Pro2820=)
|
|
|
|
NM_152564.5(VPS13B):c.8461_8462del (p.Leu2821fs)
|
rs2130813849
|
|
|
NM_152564.5(VPS13B):c.8475_8477delinsTCA (p.Arg2825_Ser2826delinsSerHis)
|
|
|
|
NM_152564.5(VPS13B):c.8490C>A (p.Asp2830Glu)
|
|
|
|
NM_152564.5(VPS13B):c.8490C>T (p.Asp2830=)
|
rs1814194580
|
|
|
NM_152564.5(VPS13B):c.8493C>G (p.Pro2831=)
|
|
|
|
NM_152564.5(VPS13B):c.8493C>T (p.Pro2831=)
|
|
|
|
NM_152564.5(VPS13B):c.8494_8495del (p.Ile2832fs)
|
rs2130813916
|
|
|
NM_152564.5(VPS13B):c.8496del (p.Ile2833fs)
|
rs2130813918
|
|
|
NM_152564.5(VPS13B):c.8499_8501del (p.Ile2834del)
|
rs1554566693
|
|
|
NM_152564.5(VPS13B):c.849T>C (p.Ala283=)
|
rs1563549019
|
|
|
NM_152564.5(VPS13B):c.8504A>G (p.His2835Arg)
|
|
|
|
NM_152564.5(VPS13B):c.8505T>G (p.His2835Gln)
|
rs1814195672
|
|
|
NM_152564.5(VPS13B):c.8505_8538dup (p.Gln2847delinsPheGlyGluLysGluSerGlyIleGluTer)
|
rs2130813950
|
|
|
NM_152564.5(VPS13B):c.8521C>T (p.Leu2841=)
|
rs2130813974
|
|
|
NM_152564.5(VPS13B):c.8522dup (p.Leu2843fs)
|
|
|
|
NM_152564.5(VPS13B):c.8527T>C (p.Leu2843=)
|
rs778838868
|
|
|
NM_152564.5(VPS13B):c.8528T>C (p.Leu2843Ser)
|
|
|
|
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs)
|
rs386834114
|
|
|
NM_152564.5(VPS13B):c.8550A>G (p.Pro2850=)
|
rs1052125514
|
|
|
NM_152564.5(VPS13B):c.8553A>G (p.Gly2851=)
|
|
|
|
NM_152564.5(VPS13B):c.8556A>G (p.Lys2852=)
|
|
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
|
NM_152564.5(VPS13B):c.855C>A (p.Tyr285Ter)
|
rs1256482530
|
|
|
NM_152564.5(VPS13B):c.855C>T (p.Tyr285=)
|
rs1256482530
|
|
|
NM_152564.5(VPS13B):c.8560C>T (p.Gln2854Ter)
|
rs2130814064
|
|
|
NM_152564.5(VPS13B):c.8574G>A (p.Leu2858=)
|
|
|
|
NM_152564.5(VPS13B):c.8581A>G (p.Ile2861Val)
|
|
|
|
NM_152564.5(VPS13B):c.8592C>A (p.Asp2864Glu)
|
|
|
|
NM_152564.5(VPS13B):c.8592C>T (p.Asp2864=)
|
|
|
|
NM_152564.5(VPS13B):c.8593C>G (p.Leu2865Val)
|
rs1814199572
|
|
|
NM_152564.5(VPS13B):c.8593C>T (p.Leu2865Phe)
|
|
|
|
NM_152564.5(VPS13B):c.8595T>G (p.Leu2865=)
|
|
|
|
NM_152564.5(VPS13B):c.8604C>T (p.His2868=)
|
rs2130814192
|
|
|
NM_152564.5(VPS13B):c.8605C>G (p.Leu2869Val)
|
rs1448710192
|
|
|
NM_152564.5(VPS13B):c.8610A>G (p.Thr2870=)
|
rs2130814206
|
|
|
NM_152564.5(VPS13B):c.8614C>A (p.Gln2872Lys)
|
rs2130814214
|
|
|
NM_152564.5(VPS13B):c.861A>C (p.Gly287=)
|
rs2132497926
|
|
|
NM_152564.5(VPS13B):c.861A>G (p.Gly287=)
|
|
|
|
NM_152564.5(VPS13B):c.8621+14C>A
|
|
|
|
NM_152564.5(VPS13B):c.8621+15C>T
|
|
|
|
NM_152564.5(VPS13B):c.8621+20A>G
|
|
|
|
NM_152564.5(VPS13B):c.8621+2T>G
|
rs1057517236
|
|
|
NM_152564.5(VPS13B):c.8621+4C>G
|
rs1563489649
|
|
|
NM_152564.5(VPS13B):c.8621+4C>T
|
rs1563489649
|
|
|
NM_152564.5(VPS13B):c.8621+6A>G
|
|
|
|
NM_152564.5(VPS13B):c.8622-10A>C
|
|
|
|
NM_152564.5(VPS13B):c.8622-11C>A
|
|
|
|
NM_152564.5(VPS13B):c.8622-2A>G
|
rs386834115
|
|
|
NM_152564.5(VPS13B):c.8622-6T>G
|
|
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
|
NM_152564.5(VPS13B):c.8625A>G (p.Glu2875=)
|
rs776161364
|
|
|
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter)
|
rs747644844
|
|
|
NM_152564.5(VPS13B):c.8628A>G (p.Glu2876=)
|
rs1814236267
|
|
|
NM_152564.5(VPS13B):c.862G>A (p.Glu288Lys)
|
|
|
|
NM_152564.5(VPS13B):c.8631T>C (p.Tyr2877=)
|
rs2130815899
|
|
|
NM_152564.5(VPS13B):c.8633A>G (p.Asp2878Gly)
|
rs1563490033
|
|
|
NM_152564.5(VPS13B):c.8633A>T (p.Asp2878Val)
|
rs1563490033
|
|
|
NM_152564.5(VPS13B):c.8637T>G (p.Pro2879=)
|
|
|
|
NM_152564.5(VPS13B):c.8643T>C (p.Asp2881=)
|
|
|
|
NM_152564.5(VPS13B):c.8646T>C (p.Cys2882=)
|
|
|
|
NM_152564.5(VPS13B):c.8654C>T (p.Pro2885Leu)
|
|
|
|
NM_152564.5(VPS13B):c.8655C>T (p.Pro2885=)
|
|
|
|
NM_152564.5(VPS13B):c.865del (p.Glu288_Ile289insTer)
|
rs2132497933
|
|
|
NM_152564.5(VPS13B):c.8664A>G (p.Thr2888=)
|
rs760964711
|
|
|
NM_152564.5(VPS13B):c.8667C>T (p.Ser2889=)
|
rs1814238060
|
|
|
NM_152564.5(VPS13B):c.8671A>G (p.Ile2891Val)
|
rs1814238254
|
|
|
NM_152564.5(VPS13B):c.8692G>A (p.Val2898Ile)
|
rs200611924
|
|
|
NM_152564.5(VPS13B):c.8694A>T (p.Val2898=)
|
|
|
|
NM_152564.5(VPS13B):c.8695C>T (p.His2899Tyr)
|
rs895271990
|
|
|
NM_152564.5(VPS13B):c.8697C>A (p.His2899Gln)
|
rs375911218
|
|
|
NM_152564.5(VPS13B):c.8703A>G (p.Gly2901=)
|
rs1588744960
|
|
|
NM_152564.5(VPS13B):c.8706C>T (p.Gly2902=)
|
rs2130816101
|
|
|
NM_152564.5(VPS13B):c.8709A>G (p.Thr2903=)
|
rs765352584
|
|
|
NM_152564.5(VPS13B):c.8709A>T (p.Thr2903=)
|
|
|
|
NM_152564.5(VPS13B):c.870C>A (p.Gly290=)
|
rs757250316
|
|
|
NM_152564.5(VPS13B):c.8710del (p.Val2904fs)
|
|
|
|
NM_152564.5(VPS13B):c.8718G>A (p.Gln2906=)
|
|
|
|
NM_152564.5(VPS13B):c.8719A>C (p.Ile2907Leu)
|
|
|
|
NM_152564.5(VPS13B):c.8721C>A (p.Ile2907=)
|
|
|
|
NM_152564.5(VPS13B):c.8721C>T (p.Ile2907=)
|
|
|
|
NM_152564.5(VPS13B):c.8730A>G (p.Glu2910=)
|
rs1814241089
|
|
|
NM_152564.5(VPS13B):c.8733C>A (p.Phe2911Leu)
|
rs1027859307
|
|
|
NM_152564.5(VPS13B):c.8733C>T (p.Phe2911=)
|
|
|
|
NM_152564.5(VPS13B):c.8739G>T (p.Gly2913=)
|
rs797046097
|
|
|
NM_152564.5(VPS13B):c.8741_8756del (p.Pro2914fs)
|
|
|
|
NM_152564.5(VPS13B):c.8745A>G (p.Glu2915=)
|
|
|
|
NM_152564.5(VPS13B):c.874T>G (p.Phe292Val)
|
rs779095081
|
|
|
NM_152564.5(VPS13B):c.8750C>A (p.Ser2917Ter)
|
|
|
|
NM_152564.5(VPS13B):c.8750C>G (p.Ser2917Trp)
|
rs139732310
|
|
|
NM_152564.5(VPS13B):c.8751G>T (p.Ser2917=)
|
rs775883776
|
|
|
NM_152564.5(VPS13B):c.8755C>A (p.Gln2919Lys)
|
rs1342501390
|
|
|
NM_152564.5(VPS13B):c.8757A>G (p.Gln2919=)
|
|
|
|
NM_152564.5(VPS13B):c.8761A>G (p.Ile2921Val)
|
|
|
|
NM_152564.5(VPS13B):c.8766G>A (p.Trp2922Ter)
|
rs2130816341
|
|
|
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del)
|
rs549810522
|
|
|
NM_152564.5(VPS13B):c.8779A>G (p.Lys2927Glu)
|
|
|
|
NM_152564.5(VPS13B):c.8784T>C (p.Asp2928=)
|
|
|
|
NM_152564.5(VPS13B):c.8786C>A (p.Ser2929Tyr)
|
|
|
|
NM_152564.5(VPS13B):c.8787T>C (p.Ser2929=)
|
rs1588745102
|
|
|
NM_152564.5(VPS13B):c.8788G>A (p.Asp2930Asn)
|
rs2130816418
|
|
|
NM_152564.5(VPS13B):c.8790C>T (p.Asp2930=)
|
|
|
|
NM_152564.5(VPS13B):c.8792+11T>C
|
|
|
|
NM_152564.5(VPS13B):c.8792+14G>C
|
|
|
|
NM_152564.5(VPS13B):c.8792+15T>C
|
|
|
|
NM_152564.5(VPS13B):c.8792+17A>G
|
|
|
|
NM_152564.5(VPS13B):c.8792+19C>G
|
rs2130816510
|
|
|
NM_152564.5(VPS13B):c.8792+24dup
|
|
|
|
NM_152564.5(VPS13B):c.8792+7T>C
|
|
|
|
NM_152564.5(VPS13B):c.8793-16G>T
|
|
|
|
NM_152564.5(VPS13B):c.8793-19G>A
|
|
|
|
NM_152564.5(VPS13B):c.8793-2A>G
|
|
|
|
NM_152564.5(VPS13B):c.8793-6del
|
rs756641209
|
|
|
NM_152564.5(VPS13B):c.8793-7G>A
|
rs886062547
|
|
|
NM_152564.5(VPS13B):c.8793-7_8793-6delinsT
|
rs756641209
|
|
|
NM_152564.5(VPS13B):c.8793-8T>C
|
rs1563490351
|
|
|
NM_152564.5(VPS13B):c.8796T>A (p.Asn2932Lys)
|
|
|
|
NM_152564.5(VPS13B):c.8796T>C (p.Asn2932=)
|
rs1814270562
|
|
|
NM_152564.5(VPS13B):c.8797G>A (p.Glu2933Lys)
|
rs1814270658
|
|
|
NM_152564.5(VPS13B):c.87A>G (p.Ser29=)
|
rs1190769527
|
|
|
NM_152564.5(VPS13B):c.8804T>C (p.Leu2935Pro)
|
|
|
|
NM_152564.5(VPS13B):c.8827C>A (p.Arg2943=)
|
rs755996065
|
|
|
NM_152564.5(VPS13B):c.8828G>T (p.Arg2943Leu)
|
|
|
|
NM_152564.5(VPS13B):c.882A>G (p.Glu294=)
|
|
|
|
NM_152564.5(VPS13B):c.8836C>T (p.Leu2946=)
|
rs753585905
|
|
|
NM_152564.5(VPS13B):c.884G>A (p.Gly295Asp)
|
rs1847627643
|
|
|
NM_152564.5(VPS13B):c.8850G>A (p.Lys2950=)
|
rs2130817562
|
|
|
NM_152564.5(VPS13B):c.8851C>A (p.Pro2951Thr)
|
|
|
|
NM_152564.5(VPS13B):c.8853A>G (p.Pro2951=)
|
|
|
|
NM_152564.5(VPS13B):c.8853A>T (p.Pro2951=)
|
|
|
|
NM_152564.5(VPS13B):c.8855A>G (p.Tyr2952Cys)
|
|
|
|
NM_152564.5(VPS13B):c.8855_8856del (p.Tyr2952fs)
|
rs2130817575
|
|
|
NM_152564.5(VPS13B):c.8859_8862dup (p.Thr2955Ter)
|
rs2130817608
|
|
|
NM_152564.5(VPS13B):c.8866T>G (p.Leu2956Val)
|
rs1814273513
|
|
|
NM_152564.5(VPS13B):c.8868G>A (p.Leu2956=)
|
|
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
|
NM_152564.5(VPS13B):c.8870T>C (p.Leu2957Ser)
|
|
|
|
NM_152564.5(VPS13B):c.8871G>A (p.Leu2957=)
|
|
|
|
NM_152564.5(VPS13B):c.887A>G (p.Glu296Gly)
|
|
|
|
NM_152564.5(VPS13B):c.8883G>A (p.Leu2961=)
|
|
|
|
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs)
|
rs1057516845
|
|
|
NM_152564.5(VPS13B):c.8886C>T (p.Pro2962=)
|
|
|
|
NM_152564.5(VPS13B):c.8893C>T (p.Leu2965=)
|
|
|
|
NM_152564.5(VPS13B):c.8895G>C (p.Leu2965=)
|
rs1423890336
|
|
|
NM_152564.5(VPS13B):c.8898T>C (p.Leu2966=)
|
rs1814274543
|
|
|
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer)
|
rs1554622718
|
|
|
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)
|
rs797046098
|
|
|
NM_152564.5(VPS13B):c.8920C>A (p.Leu2974Ile)
|
|
|
|
NM_152564.5(VPS13B):c.8926C>T (p.Leu2976=)
|
rs1814275656
|
|
|
NM_152564.5(VPS13B):c.8928A>G (p.Leu2976=)
|
rs1814275776
|
|
|
NM_152564.5(VPS13B):c.8937A>G (p.Gly2979=)
|
|
|
|
NM_152564.5(VPS13B):c.8940G>C (p.Glu2980Asp)
|
rs1814276106
|
|
|
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter)
|
rs1057516558
|
|
|
NM_152564.5(VPS13B):c.8955G>A (p.Gln2985=)
|
|
|
|
NM_152564.5(VPS13B):c.895G>A (p.Asp299Asn)
|
|
|
|
NM_152564.5(VPS13B):c.8961T>G (p.Pro2987=)
|
rs2130817807
|
|
|
NM_152564.5(VPS13B):c.8963C>T (p.Ala2988Val)
|
rs1814277012
|
|
|
NM_152564.5(VPS13B):c.8964T>C (p.Ala2988=)
|
|
|
|
NM_152564.5(VPS13B):c.8965G>A (p.Gly2989Ser)
|
rs1814277192
|
|
|
NM_152564.5(VPS13B):c.8965G>T (p.Gly2989Cys)
|
rs1814277192
|
|
|
NM_152564.5(VPS13B):c.896del (p.Asp299fs)
|
rs2132498049
|
|
|
NM_152564.5(VPS13B):c.8980C>T (p.Pro2994Ser)
|
rs1814277690
|
|
|
NM_152564.5(VPS13B):c.8981C>T (p.Pro2994Leu)
|
rs913607878
|
|
|
NM_152564.5(VPS13B):c.8983C>A (p.Pro2995Thr)
|
rs1180231209
|
|
|
NM_152564.5(VPS13B):c.8983C>T (p.Pro2995Ser)
|
rs1180231209
|
|
|
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs)
|
rs1057516276
|
|
|
NM_152564.5(VPS13B):c.8994+10del
|
|
|
|
NM_152564.5(VPS13B):c.8994+14T>C
|
|
|
|
NM_152564.5(VPS13B):c.8994+16del
|
|
|
|
NM_152564.5(VPS13B):c.8994+16dup
|
|
|
|
NM_152564.5(VPS13B):c.8994+18A>G
|
|
|
|
NM_152564.5(VPS13B):c.8994+20T>G
|
|
|
|
NM_152564.5(VPS13B):c.8994+6A>G
|
rs2130817893
|
|
|
NM_152564.5(VPS13B):c.8995-10A>C
|
|
|
|
NM_152564.5(VPS13B):c.8995-13A>C
|
|
|
|
NM_152564.5(VPS13B):c.8995-13A>T
|
|
|
|
NM_152564.5(VPS13B):c.8995-14C>G
|
|
|
|
NM_152564.5(VPS13B):c.8995-14C>T
|
|
|
|
NM_152564.5(VPS13B):c.8995-16G>A
|
|
|
|
NM_152564.5(VPS13B):c.8995-16G>T
|
|
|
|
NM_152564.5(VPS13B):c.8995-1G>A
|
|
|
|
NM_152564.5(VPS13B):c.8995-20T>A
|
|
|
|
NM_152564.5(VPS13B):c.8995-20T>C
|
|
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
|
NM_152564.5(VPS13B):c.8995-4C>T
|
rs2130821868
|
|
|
NM_152564.5(VPS13B):c.8997A>G (p.Glu2999=)
|
rs2130821884
|
|
|
NM_152564.5(VPS13B):c.8999C>G (p.Ala3000Gly)
|
|
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
|
NM_152564.5(VPS13B):c.900T>A (p.Leu300=)
|
rs2132498081
|
|
|
NM_152564.5(VPS13B):c.900T>G (p.Leu300=)
|
rs2132498081
|
|
|
NM_152564.5(VPS13B):c.9019T>G (p.Trp3007Gly)
|
|
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
|
NM_152564.5(VPS13B):c.9023C>T (p.Ala3008Val)
|
rs6992059
|
|
|
NM_152564.5(VPS13B):c.9029C>A (p.Thr3010Lys)
|
|
|
|
NM_152564.5(VPS13B):c.902C>G (p.Thr301Ser)
|
rs1847628494
|
|
|
NM_152564.5(VPS13B):c.9033C>T (p.Asn3011=)
|
rs1814357255
|
|
|
NM_152564.5(VPS13B):c.9036T>C (p.Thr3012=)
|
|
|
|
NM_152564.5(VPS13B):c.9048A>C (p.Ser3016=)
|
|
|
|
NM_152564.5(VPS13B):c.9048A>G (p.Ser3016=)
|
rs764745288
|
|
|
NM_152564.5(VPS13B):c.9057T>C (p.Ile3019=)
|
rs1338076915
|
|
|
NM_152564.5(VPS13B):c.9062T>C (p.Leu3021Pro)
|
|
|
|
NM_152564.5(VPS13B):c.9063G>C (p.Leu3021=)
|
|
|
|
NM_152564.5(VPS13B):c.9068A>G (p.His3023Arg)
|
rs755304703
|
|
|
NM_152564.5(VPS13B):c.9075G>A (p.Leu3025=)
|
|
|
|
NM_152564.5(VPS13B):c.907C>G (p.His303Asp)
|
rs1847628600
|
|
|
NM_152564.5(VPS13B):c.9089G>A (p.Trp3030Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9090G>A (p.Trp3030Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9105T>C (p.Asn3035=)
|
|
|
|
NM_152564.5(VPS13B):c.9111A>G (p.Glu3037=)
|
rs2130822154
|
|
|
NM_152564.5(VPS13B):c.9117G>A (p.Val3039=)
|
|
|
|
NM_152564.5(VPS13B):c.9128A>G (p.Glu3043Gly)
|
rs778973890
|
|
|
NM_152564.5(VPS13B):c.9140T>C (p.Val3047Ala)
|
|
|
|
NM_152564.5(VPS13B):c.9143A>G (p.Asp3048Gly)
|
rs2130822238
|
|
|
NM_152564.5(VPS13B):c.9147T>C (p.Thr3049=)
|
rs2130822258
|
|
|
NM_152564.5(VPS13B):c.9148G>A (p.Glu3050Lys)
|
|
|
|
NM_152564.5(VPS13B):c.9153A>T (p.Ile3051=)
|
|
|
|
NM_152564.5(VPS13B):c.9158T>C (p.Leu3053Pro)
|
rs953473434
|
|
|
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)
|
rs386834117
|
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
|
NM_152564.5(VPS13B):c.9183+15T>C
|
|
|
|
NM_152564.5(VPS13B):c.9183+1G>A
|
rs2130822351
|
|
|
NM_152564.5(VPS13B):c.9183+20G>T
|
|
|
|
NM_152564.5(VPS13B):c.9183+2T>G
|
|
|
|
NM_152564.5(VPS13B):c.9183+8C>G
|
rs2130822390
|
|
|
NM_152564.5(VPS13B):c.9184-10T>C
|
rs2130828647
|
|
|
NM_152564.5(VPS13B):c.9184-15T>C
|
|
|
|
NM_152564.5(VPS13B):c.9184-1G>A
|
|
|
|
NM_152564.5(VPS13B):c.9184-2A>G
|
|
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
|
NM_152564.5(VPS13B):c.9184-9A>G
|
rs2130828655
|
|
|
NM_152564.5(VPS13B):c.9184-9A>T
|
|
|
|
NM_152564.5(VPS13B):c.9184-9_9184-5del
|
|
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
|
NM_152564.5(VPS13B):c.9186A>T (p.Leu3062Phe)
|
rs984224710
|
|
|
NM_152564.5(VPS13B):c.918T>C (p.Asp306=)
|
rs2132498147
|
|
|
NM_152564.5(VPS13B):c.9193T>C (p.Phe3065Leu)
|
|
|
|
NM_152564.5(VPS13B):c.9204C>T (p.Ser3068=)
|
|
|
|
NM_152564.5(VPS13B):c.9206C>T (p.Ser3069Phe)
|
rs1814517169
|
|
|
NM_152564.5(VPS13B):c.9208A>G (p.Met3070Val)
|
rs1386338109
|
|
|
NM_152564.5(VPS13B):c.9220G>A (p.Gly3074Ser)
|
rs762740344
|
|
|
NM_152564.5(VPS13B):c.9222T>A (p.Gly3074=)
|
|
|
|
NM_152564.5(VPS13B):c.9231T>C (p.Ile3077=)
|
rs958907037
|
|
|
NM_152564.5(VPS13B):c.9234T>C (p.Ile3078=)
|
rs2130828791
|
|
|
NM_152564.5(VPS13B):c.9240T>C (p.Ile3080=)
|
rs1814518647
|
|
|
NM_152564.5(VPS13B):c.9242A>G (p.Glu3081Gly)
|
rs1814518745
|
|
|
NM_152564.5(VPS13B):c.9245A>G (p.Asp3082Gly)
|
rs1563492523
|
|
|
NM_152564.5(VPS13B):c.9255A>G (p.Thr3085=)
|
rs2130828848
|
|
|
NM_152564.5(VPS13B):c.9259A>C (p.Ile3087Leu)
|
rs768346495
|
|
|
NM_152564.5(VPS13B):c.9261C>T (p.Ile3087=)
|
|
|
|
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
|
|
|
|
NM_152564.5(VPS13B):c.9263A>G (p.Asn3088Ser)
|
rs1814519813
|
|
|
NM_152564.5(VPS13B):c.9267T>C (p.Asn3089=)
|
rs886062548
|
|
|
NM_152564.5(VPS13B):c.9268A>G (p.Thr3090Ala)
|
rs2130828886
|
|
|
NM_152564.5(VPS13B):c.926G>A (p.Gly309Glu)
|
|
|
|
NM_152564.5(VPS13B):c.9273A>G (p.Pro3091=)
|
rs1345326650
|
|
|
NM_152564.5(VPS13B):c.9276T>C (p.Tyr3092=)
|
rs2130828917
|
|
|
NM_152564.5(VPS13B):c.9280del (p.Ile3094fs)
|
|
|
|
NM_152564.5(VPS13B):c.9283T>G (p.Phe3095Val)
|
rs1814520891
|
|
|
NM_152564.5(VPS13B):c.9293C>A (p.Pro3098Gln)
|
rs917260056
|
|
|
NM_152564.5(VPS13B):c.9293_9295dup (p.Pro3098dup)
|
rs1182385860
|
|
|
NM_152564.5(VPS13B):c.9294A>C (p.Pro3098=)
|
|
|
|
NM_152564.5(VPS13B):c.9300A>G (p.Leu3100=)
|
rs143974238
|
|
|
NM_152564.5(VPS13B):c.9300A>T (p.Leu3100=)
|
rs143974238
|
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
|
NM_152564.5(VPS13B):c.9306C>T (p.Val3102=)
|
|
|
|
NM_152564.5(VPS13B):c.9309C>T (p.Cys3103=)
|
|
|
|
NM_152564.5(VPS13B):c.9312T>C (p.Asn3104=)
|
|
|
|
NM_152564.5(VPS13B):c.9313C>A (p.Pro3105Thr)
|
rs748030120
|
|
|
NM_152564.5(VPS13B):c.9314C>T (p.Pro3105Leu)
|
|
|
|
NM_152564.5(VPS13B):c.9318T>C (p.His3106=)
|
rs1814523122
|
|
|
NM_152564.5(VPS13B):c.9322G>A (p.Gly3108Arg)
|
rs1814523416
|
|
|
NM_152564.5(VPS13B):c.9327G>A (p.Lys3109=)
|
|
|
|
NM_152564.5(VPS13B):c.9328G>T (p.Glu3110Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9330+12A>G
|
|
|
|
NM_152564.5(VPS13B):c.9330+13T>C
|
|
|
|
NM_152564.5(VPS13B):c.9330+16C>A
|
|
|
|
NM_152564.5(VPS13B):c.9330+16C>G
|
|
|
|
NM_152564.5(VPS13B):c.9330+16C>T
|
|
|
|
NM_152564.5(VPS13B):c.9330+17G>T
|
|
|
|
NM_152564.5(VPS13B):c.9330+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
|
NM_152564.5(VPS13B):c.9330+8A>T
|
|
|
|
NM_152564.5(VPS13B):c.9331-10T>C
|
|
|
|
NM_152564.5(VPS13B):c.9331-12_9331-3del
|
rs370235149
|
|
|
NM_152564.5(VPS13B):c.9331-14_9331-3del
|
|
|
|
NM_152564.5(VPS13B):c.9331-15_9331-3del
|
|
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
|
NM_152564.5(VPS13B):c.9331-1G>C
|
rs386834119
|
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
|
NM_152564.5(VPS13B):c.9331-1_9332delinsTTT
|
|
|
|
NM_152564.5(VPS13B):c.9331-21_9331-3del
|
rs370235149
|
|
|
NM_152564.5(VPS13B):c.9331-2A>G
|
rs74485751
|
|
|
NM_152564.5(VPS13B):c.9331-2_9331-1del
|
rs764288792
|
|
|
NM_152564.5(VPS13B):c.9331-3_9331-2insTTTTTTTTTTTGTTTTTT
|
|
|
|
NM_152564.5(VPS13B):c.9331-4T>G
|
rs2130857623
|
|
|
NM_152564.5(VPS13B):c.9331-5T>C
|
|
|
|
NM_152564.5(VPS13B):c.9331-98dup
|
rs68156520
|
|
|
NM_152564.5(VPS13B):c.9331-99_9331-98dup
|
rs68156520
|
|
|
NM_152564.5(VPS13B):c.9331-9T>G
|
|
|
|
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs)
|
rs757435621
|
|
|
NM_152564.5(VPS13B):c.9332A>G (p.Tyr3111Cys)
|
|
|
|
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe)
|
rs199704158
|
|
|
NM_152564.5(VPS13B):c.9333T>C (p.Tyr3111=)
|
|
|
|
NM_152564.5(VPS13B):c.9333T>G (p.Tyr3111Ter)
|
rs1563497733
|
|
|
NM_152564.5(VPS13B):c.9337C>T (p.Arg3113Cys)
|
|
|
|
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs)
|
rs754443525
|
|
|
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe)
|
rs752763935
|
|
|
NM_152564.5(VPS13B):c.9345A>G (p.Pro3115=)
|
rs2130857838
|
|
|
NM_152564.5(VPS13B):c.9348C>T (p.Asp3116=)
|
rs2130857844
|
|
|
NM_152564.5(VPS13B):c.9350G>A (p.Ser3117Asn)
|
|
|
|
NM_152564.5(VPS13B):c.9354T>A (p.Ala3118=)
|
|
|
|
NM_152564.5(VPS13B):c.9355A>G (p.Thr3119Ala)
|
|
|
|
NM_152564.5(VPS13B):c.9359T>C (p.Phe3120Ser)
|
rs1490268361
|
|
|
NM_152564.5(VPS13B):c.937+10A>T
|
|
|
|
NM_152564.5(VPS13B):c.937+15T>A
|
|
|
|
NM_152564.5(VPS13B):c.937+16A>G
|
|
|
|
NM_152564.5(VPS13B):c.937+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.937+4A>G
|
|
|
|
NM_152564.5(VPS13B):c.937+6G>A
|
rs2132498266
|
|
|
NM_152564.5(VPS13B):c.937+7T>C
|
|
|
|
NM_152564.5(VPS13B):c.9370C>T (p.Pro3124Ser)
|
|
|
|
NM_152564.5(VPS13B):c.9371C>G (p.Pro3124Arg)
|
|
|
|
NM_152564.5(VPS13B):c.9377G>A (p.Gly3126Glu)
|
rs2130857969
|
|
|
NM_152564.5(VPS13B):c.938-13T>C
|
rs751563657
|
|
|
NM_152564.5(VPS13B):c.938-17T>C
|
|
|
|
NM_152564.5(VPS13B):c.938-17T>G
|
|
|
|
NM_152564.5(VPS13B):c.938-17_938-16del
|
|
|
|
NM_152564.5(VPS13B):c.938-19A>G
|
|
|
|
NM_152564.5(VPS13B):c.938-1G>C
|
rs2132515671
|
|
|
NM_152564.5(VPS13B):c.938-8A>G
|
|
|
|
NM_152564.5(VPS13B):c.938-9A>G
|
|
|
|
NM_152564.5(VPS13B):c.9381G>A (p.Glu3127=)
|
|
|
|
NM_152564.5(VPS13B):c.9384G>A (p.Gln3128=)
|
rs267601673
|
|
|
NM_152564.5(VPS13B):c.9386C>G (p.Pro3129Arg)
|
|
|
|
NM_152564.5(VPS13B):c.9388G>A (p.Ala3130Thr)
|
rs2130858010
|
|
|
NM_152564.5(VPS13B):c.9388G>C (p.Ala3130Pro)
|
rs2130858010
|
|
|
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs)
|
rs2130858031
|
|
|
NM_152564.5(VPS13B):c.939T>C (p.Gly313=)
|
rs2132515681
|
|
|
NM_152564.5(VPS13B):c.9405C>A (p.Ser3135=)
|
rs2130858063
|
|
|
NM_152564.5(VPS13B):c.9406C>T (p.Leu3136Phe)
|
rs1815131065
|
|
|
NM_152564.5(VPS13B):c.9408T>C (p.Leu3136=)
|
|
|
|
NM_152564.5(VPS13B):c.9409C>G (p.Pro3137Ala)
|
|
|
|
NM_152564.5(VPS13B):c.9409C>T (p.Pro3137Ser)
|
|
|
|
NM_152564.5(VPS13B):c.9411T>G (p.Pro3137=)
|
rs2130858097
|
|
|
NM_152564.5(VPS13B):c.9416G>A (p.Trp3139Ter)
|
rs1563497844
|
|
|
NM_152564.5(VPS13B):c.9429T>G (p.Pro3143=)
|
rs2130858135
|
|
|
NM_152564.5(VPS13B):c.9440A>C (p.Gln3147Pro)
|
|
|
|
NM_152564.5(VPS13B):c.9444A>G (p.Ser3148=)
|
rs1419669701
|
|
|
NM_152564.5(VPS13B):c.9448del (p.Leu3150fs)
|
|
|
|
NM_152564.5(VPS13B):c.9458C>A (p.Ser3153Tyr)
|
rs1815134599
|
|
|
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe)
|
rs1588761583
|
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
|
NM_152564.5(VPS13B):c.9492T>G (p.Ser3164=)
|
rs36074608
|
|
|
NM_152564.5(VPS13B):c.9493C>T (p.Pro3165Ser)
|
|
|
|
NM_152564.5(VPS13B):c.9498C>G (p.Ala3166=)
|
|
|
|
NM_152564.5(VPS13B):c.9498C>T (p.Ala3166=)
|
|
|
|
NM_152564.5(VPS13B):c.9500C>T (p.Pro3167Leu)
|
rs1815137390
|
|
|
NM_152564.5(VPS13B):c.9501A>G (p.Pro3167=)
|
rs1448281466
|
|
|
NM_152564.5(VPS13B):c.9503G>A (p.Gly3168Asp)
|
|
|
|
NM_152564.5(VPS13B):c.9504T>C (p.Gly3168=)
|
|
|
|
NM_152564.5(VPS13B):c.9513C>G (p.Ser3171Arg)
|
rs2130858288
|
|
|
NM_152564.5(VPS13B):c.9513C>T (p.Ser3171=)
|
|
|
|
NM_152564.5(VPS13B):c.9517C>T (p.Gln3173Ter)
|
rs1554573990
|
|
|
NM_152564.5(VPS13B):c.9525G>A (p.Trp3175Ter)
|
rs2130858310
|
|
|
NM_152564.5(VPS13B):c.9528C>G (p.Ser3176Arg)
|
rs771505935
|
|
|
NM_152564.5(VPS13B):c.9529C>T (p.Leu3177=)
|
|
|
|
NM_152564.5(VPS13B):c.9535G>T (p.Ala3179Ser)
|
rs2130858328
|
|
|
NM_152564.5(VPS13B):c.9537_9540dup (p.Val3181fs)
|
rs2130858335
|
|
|
NM_152564.5(VPS13B):c.9539T>C (p.Ile3180Thr)
|
|
|
|
NM_152564.5(VPS13B):c.9558C>T (p.Pro3186=)
|
|
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
|
NM_152564.5(VPS13B):c.9563dup (p.Ser3189fs)
|
rs2130858386
|
|
|
NM_152564.5(VPS13B):c.9565_9566del (p.Ser3189fs)
|
|
|
|
NM_152564.5(VPS13B):c.9567T>C (p.Ser3189=)
|
rs2130858392
|
|
|
NM_152564.5(VPS13B):c.9572C>G (p.Ala3191Gly)
|
rs1815140494
|
|
|
NM_152564.5(VPS13B):c.9579C>T (p.Pro3193=)
|
rs2130858423
|
|
|
NM_152564.5(VPS13B):c.9584G>T (p.Gly3195Val)
|
rs1815141428
|
|
|
NM_152564.5(VPS13B):c.9585G>T (p.Gly3195=)
|
|
|
|
NM_152564.5(VPS13B):c.9594G>A (p.Arg3198=)
|
rs2130858464
|
|
|
NM_152564.5(VPS13B):c.95del (p.Gly32fs)
|
|
|
|
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg)
|
rs781004616
|
|
|
NM_152564.5(VPS13B):c.9608G>A (p.Cys3203Tyr)
|
rs747611342
|
|
|
NM_152564.5(VPS13B):c.9609T>C (p.Cys3203=)
|
rs533207610
|
|
|
NM_152564.5(VPS13B):c.9612C>G (p.Thr3204=)
|
rs2130858506
|
|
|
NM_152564.5(VPS13B):c.9614+1G>T
|
rs1057517168
|
|
|
NM_152564.5(VPS13B):c.9614+8_9614+10del
|
|
|
|
NM_152564.5(VPS13B):c.9614+8_9614+9del
|
|
|
|
NM_152564.5(VPS13B):c.9615-12A>G
|
|
|
|
NM_152564.5(VPS13B):c.9615-14T>G
|
|
|
|
NM_152564.5(VPS13B):c.9615-15T>C
|
|
|
|
NM_152564.5(VPS13B):c.9615-16C>T
|
|
|
|
NM_152564.5(VPS13B):c.9615-17A>T
|
|
|
|
NM_152564.5(VPS13B):c.9615-1G>A
|
rs2130865334
|
|
|
NM_152564.5(VPS13B):c.9615-2A>C
|
rs386834120
|
|
|
NM_152564.5(VPS13B):c.9615-2A>G
|
rs386834120
|
|
|
NM_152564.5(VPS13B):c.9615G>T (p.Arg3205Ser)
|
|
|
|
NM_152564.5(VPS13B):c.9619A>G (p.Ile3207Val)
|
|
|
|
NM_152564.5(VPS13B):c.9623T>C (p.Val3208Ala)
|
rs1563499365
|
|
|
NM_152564.5(VPS13B):c.9627G>A (p.Leu3209=)
|
|
|
|
NM_152564.5(VPS13B):c.9630A>C (p.Thr3210=)
|
|
|
|
NM_152564.5(VPS13B):c.9630A>G (p.Thr3210=)
|
|
|
|
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs)
|
rs386834121
|
|
|
NM_152564.5(VPS13B):c.9633T>C (p.Tyr3211=)
|
rs980028099
|
|
|
NM_152564.5(VPS13B):c.9634C>T (p.Gln3212Ter)
|
rs1563499381
|
|
|
NM_152564.5(VPS13B):c.9639del (p.Glu3213fs)
|
|
|
|
NM_152564.5(VPS13B):c.9655T>C (p.Tyr3219His)
|
rs2130865452
|
|
|
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs)
|
rs386834122
|
|
|
NM_152564.5(VPS13B):c.9661A>G (p.Thr3221Ala)
|
|
|
|
NM_152564.5(VPS13B):c.9662C>A (p.Thr3221Asn)
|
rs143852398
|
|
|
NM_152564.5(VPS13B):c.9675C>T (p.Asp3225=)
|
rs2130865492
|
|
|
NM_152564.5(VPS13B):c.9682C>A (p.Pro3228Thr)
|
|
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
|
NM_152564.5(VPS13B):c.968A>G (p.Gln323Arg)
|
rs1847916430
|
|
|
NM_152564.5(VPS13B):c.9693T>C (p.Ile3231=)
|
rs2130865538
|
|
|
NM_152564.5(VPS13B):c.9696C>A (p.Ile3232=)
|
rs1348521177
|
|
|
NM_152564.5(VPS13B):c.9696C>T (p.Ile3232=)
|
rs1348521177
|
|
|
NM_152564.5(VPS13B):c.9697C>G (p.His3233Asp)
|
rs1815326772
|
|
|
NM_152564.5(VPS13B):c.9697_9700delinsAAG (p.His3233fs)
|
|
|
|
NM_152564.5(VPS13B):c.9699C>A (p.His3233Gln)
|
|
|
|
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs)
|
rs2130865566
|
|
|
NM_152564.5(VPS13B):c.9703A>C (p.Arg3235=)
|
|
|
|
NM_152564.5(VPS13B):c.9705A>G (p.Arg3235=)
|
|
|
|
NM_152564.5(VPS13B):c.9706T>C (p.Cys3236Arg)
|
rs1815327230
|
|
|
NM_152564.5(VPS13B):c.9708T>C (p.Cys3236=)
|
|
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
|
NM_152564.5(VPS13B):c.971A>G (p.Tyr324Cys)
|
|
|
|
NM_152564.5(VPS13B):c.9723T>C (p.Leu3241=)
|
|
|
|
NM_152564.5(VPS13B):c.972T>G (p.Tyr324Ter)
|
|
|
|
NM_152564.5(VPS13B):c.9735C>T (p.Asn3245=)
|
rs766177887
|
|
|
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
|
|
|
|
NM_152564.5(VPS13B):c.973C>G (p.Pro325Ala)
|
rs1161857930
|
|
|
NM_152564.5(VPS13B):c.9742+13C>G
|
rs112919682
|
|
|
NM_152564.5(VPS13B):c.9742+13C>T
|
rs112919682
|
|
|
NM_152564.5(VPS13B):c.9742+15A>G
|
|
|
|
NM_152564.5(VPS13B):c.9742+16T>C
|
|
|
|
NM_152564.5(VPS13B):c.9742+17C>T
|
|
|
|
NM_152564.5(VPS13B):c.9742+1G>A
|
|
|
|
NM_152564.5(VPS13B):c.9742+1G>T
|
rs759374475
|
|
|
NM_152564.5(VPS13B):c.9742+2T>C
|
rs1434569440
|
|
|
NM_152564.5(VPS13B):c.9742+3A>G
|
rs375183964
|
|
|
NM_152564.5(VPS13B):c.9742+5G>A
|
|
|
|
NM_152564.5(VPS13B):c.9742+8T>A
|
rs2130865683
|
|
|
NM_152564.5(VPS13B):c.9742+9dup
|
|
|
|
NM_152564.5(VPS13B):c.9742G>A (p.Asp3248Asn)
|
rs774374731
|
|
|
NM_152564.5(VPS13B):c.9743-10A>T
|
|
|
|
NM_152564.5(VPS13B):c.9743-16T>G
|
|
|
|
NM_152564.5(VPS13B):c.9743-17C>T
|
|
|
|
NM_152564.5(VPS13B):c.9743-2A>C
|
rs1815345770
|
|
|
NM_152564.5(VPS13B):c.9743-4T>G
|
rs1450351706
|
|
|
NM_152564.5(VPS13B):c.9743-5_9744del
|
|
|
|
NM_152564.5(VPS13B):c.9743-8A>C
|
|
|
|
NM_152564.5(VPS13B):c.9743-9A>T
|
rs2130866268
|
|
|
NM_152564.5(VPS13B):c.9745del (p.Ile3249fs)
|
|
|
|
NM_152564.5(VPS13B):c.9753G>A (p.Lys3251=)
|
|
|
|
NM_152564.5(VPS13B):c.9756T>G (p.Phe3252Leu)
|
|
|
|
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs)
|
rs768801125
|
|
|
NM_152564.5(VPS13B):c.975T>G (p.Pro325=)
|
rs1554625544
|
|
|
NM_152564.5(VPS13B):c.9760G>A (p.Val3254Ile)
|
|
|
|
NM_152564.5(VPS13B):c.9765T>C (p.Tyr3255=)
|
rs1203586505
|
|
|
NM_152564.5(VPS13B):c.9775A>C (p.Ile3259Leu)
|
rs1425945549
|
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
|
NM_152564.5(VPS13B):c.9776T>C (p.Ile3259Thr)
|
rs1815347853
|
|
|
NM_152564.5(VPS13B):c.9782C>G (p.Ser3261Cys)
|
rs1372759268
|
|
|
NM_152564.5(VPS13B):c.9783C>A (p.Ser3261=)
|
|
|
|
NM_152564.5(VPS13B):c.9792A>G (p.Ser3264=)
|
|
|
|
NM_152564.5(VPS13B):c.979C>T (p.Gln327Ter)
|
rs1205613982
|
|
|
NM_152564.5(VPS13B):c.9807G>A (p.Leu3269=)
|
|
|
|
NM_152564.5(VPS13B):c.981G>A (p.Gln327=)
|
|
|
|
NM_152564.5(VPS13B):c.9822C>T (p.Ser3274=)
|
|
|
|
NM_152564.5(VPS13B):c.9824G>T (p.Ser3275Ile)
|
rs1815351031
|
|
|
NM_152564.5(VPS13B):c.9827A>G (p.Tyr3276Cys)
|
|
|
|
NM_152564.5(VPS13B):c.9827A>T (p.Tyr3276Phe)
|
rs563162284
|
|
|
NM_152564.5(VPS13B):c.9828T>C (p.Tyr3276=)
|
|
|
|
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs)
|
rs1057516568
|
|
|
NM_152564.5(VPS13B):c.9832G>C (p.Asp3278His)
|
|
|
|
NM_152564.5(VPS13B):c.9843_9862del (p.Lys3282fs)
|
rs2130866580
|
|
|
NM_152564.5(VPS13B):c.984T>A (p.His328Gln)
|
|
|
|
NM_152564.5(VPS13B):c.9856C>G (p.Pro3286Ala)
|
|
|
|
NM_152564.5(VPS13B):c.9858A>G (p.Pro3286=)
|
|
|
|
NM_152564.5(VPS13B):c.9860G>A (p.Ser3287Asn)
|
|
|
|
NM_152564.5(VPS13B):c.986A>C (p.Lys329Thr)
|
rs1195441250
|
|
|
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs)
|
rs1057516614
|
|
|
NM_152564.5(VPS13B):c.988G>A (p.Gly330Ser)
|
|
|
|
NM_152564.5(VPS13B):c.9891_9892insCCTCTAGA (p.Val3298fs)
|
rs2130866708
|
|
|
NM_152564.5(VPS13B):c.9905G>A (p.Trp3302Ter)
|
rs2130866735
|
|
|
NM_152564.5(VPS13B):c.9911A>G (p.Asp3304Gly)
|
rs2130866768
|
|
|
NM_152564.5(VPS13B):c.9915C>A (p.Ala3305=)
|
|
|
|
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs)
|
rs1554575679
|
|
|
NM_152564.5(VPS13B):c.9920A>G (p.Asp3307Gly)
|
|
|
|
NM_152564.5(VPS13B):c.9927C>T (p.Asn3309=)
|
|
|
|
NM_152564.5(VPS13B):c.9933G>A (p.Gln3311=)
|
rs2130866834
|
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
|
NM_152564.5(VPS13B):c.9938dup (p.Gln3314fs)
|
|
|
|
NM_152564.5(VPS13B):c.993A>G (p.Gln331=)
|
|
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
|
NM_152564.5(VPS13B):c.9942+12A>G
|
|
|
|
NM_152564.5(VPS13B):c.9942+17T>A
|
|
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|
|
NM_152564.5(VPS13B):c.9942+20C>T
|
rs1490242319
|
|
|
NM_152564.5(VPS13B):c.9942+4A>C
|
|
|
|
NM_152564.5(VPS13B):c.9942+4A>G
|
rs772319548
|
|
|
NM_152564.5(VPS13B):c.9942+7G>A
|
|
|
|
NM_152564.5(VPS13B):c.9942+7G>C
|
rs528134335
|
|
|
NM_152564.5(VPS13B):c.9942+9G>A
|
rs942110632
|
|
|
NM_152564.5(VPS13B):c.9943-11T>C
|
|
|
|
NM_152564.5(VPS13B):c.9943-11T>G
|
rs1816110809
|
|
|
NM_152564.5(VPS13B):c.9943-17G>T
|
|
|
|
NM_152564.5(VPS13B):c.9943-1G>A
|
|
|
|
NM_152564.5(VPS13B):c.9943-2A>G
|
rs1816111137
|
|
|
NM_152564.5(VPS13B):c.9943-4G>T
|
rs2130902382
|
|
|
NM_152564.5(VPS13B):c.9943-7T>C
|
|
|
|
NM_152564.5(VPS13B):c.9943G>T (p.Val3315Phe)
|
rs116746734
|
|
|
NM_152564.5(VPS13B):c.9945T>G (p.Val3315=)
|
|
|
|
NM_152564.5(VPS13B):c.994G>C (p.Glu332Gln)
|
|
|
|
NM_152564.5(VPS13B):c.9952C>T (p.Leu3318=)
|
|
|
|
NM_152564.5(VPS13B):c.995A>G (p.Glu332Gly)
|
|
|
|
NM_152564.5(VPS13B):c.9974A>G (p.Tyr3325Cys)
|
|
|
|
NM_152564.5(VPS13B):c.997T>C (p.Leu333=)
|
|
|
|
NM_152564.5(VPS13B):c.9981T>C (p.Asp3327=)
|
|
|
|
NM_152564.5(VPS13B):c.9985G>C (p.Val3329Leu)
|
|
|
|
NM_152564.5(VPS13B):c.9G>A (p.Glu3=)
|
|
|
|
NM_152564.5(VPS13B):c.[1044G>A;8916G>A]
|
|
|
|
NM_156039.3(CSF3R):c.[1245delG];[948_963del16]
|
|
|
|
NM_183235.3(RAB27A):c.*1110A>G
|
rs560464809
|
|
|
NM_183235.3(RAB27A):c.*1172T>C
|
rs148704535
|
|
|
NM_183235.3(RAB27A):c.*121A>G
|
rs886051316
|
|
|
NM_183235.3(RAB27A):c.*131C>T
|
rs993461205
|
|
|
NM_183235.3(RAB27A):c.*1493T>A
|
rs149948399
|
|
|
NM_183235.3(RAB27A):c.*1546T>C
|
rs1894521152
|
|
|
NM_183235.3(RAB27A):c.*162G>C
|
rs886051315
|
|
|
NM_183235.3(RAB27A):c.*1678T>A
|
rs540548388
|
|
|
NM_183235.3(RAB27A):c.*1863C>G
|
rs566144766
|
|
|
NM_183235.3(RAB27A):c.*1904A>T
|
rs28620827
|
|
|
NM_183235.3(RAB27A):c.*1919A>T
|
rs867969605
|
|
|
NM_183235.3(RAB27A):c.*28A>G
|
rs1894595727
|
|
|
NM_183235.3(RAB27A):c.*388G>C
|
rs886051314
|
|
|
NM_183235.3(RAB27A):c.*415C>T
|
rs1894577892
|
|
|
NM_183235.3(RAB27A):c.*457A>G
|
rs112397072
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NM_183235.3(RAB27A):c.*561A>T
|
rs886051312
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NM_183235.3(RAB27A):c.*595G>T
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rs538867721
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NM_183235.3(RAB27A):c.*723C>T
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rs886051311
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NM_183235.3(RAB27A):c.*854A>G
|
rs1894556488
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NM_183235.3(RAB27A):c.*858G>A
|
rs886051309
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NM_183235.3(RAB27A):c.*9G>A
|
rs768429078
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NM_183235.3(RAB27A):c.-142-110G>A
|
rs1275639637
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NM_183235.3(RAB27A):c.-142-46A>G
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rs8031271
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NM_183235.3(RAB27A):c.-142-65C>G
|
rs150033129
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NM_183235.3(RAB27A):c.-23+13A>G
|
rs1897659170
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NM_183235.3(RAB27A):c.112T>C (p.Phe38Leu)
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NM_183235.3(RAB27A):c.121A>C (p.Thr41Pro)
|
rs1896186645
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NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala)
|
rs1896186645
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NM_183235.3(RAB27A):c.136T>A (p.Phe46Ile)
|
rs2140989874
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NM_183235.3(RAB27A):c.137T>G (p.Phe46Cys)
|
rs1896185846
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NM_183235.3(RAB27A):c.147_148del (p.Arg50fs)
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NM_183235.3(RAB27A):c.148del (p.Arg50fs)
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NM_183235.3(RAB27A):c.153+14C>A
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NM_183235.3(RAB27A):c.153G>A (p.Val51=)
|
rs1331587655
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NM_183235.3(RAB27A):c.154-6T>A
|
rs1895989137
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NM_183235.3(RAB27A):c.154-7G>A
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NM_183235.3(RAB27A):c.154-7G>C
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NM_183235.3(RAB27A):c.154del
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NM_183235.3(RAB27A):c.15T>C (p.Asp5=)
|
rs952920589
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NM_183235.3(RAB27A):c.167G>A (p.Ser56Asn)
|
rs540520068
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NM_183235.3(RAB27A):c.174G>A (p.Pro58=)
|
rs910190895
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NM_183235.3(RAB27A):c.181G>C (p.Ala61Pro)
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NM_183235.3(RAB27A):c.187G>T (p.Gly63Cys)
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rs1895985830
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NM_183235.3(RAB27A):c.18_19del (p.Tyr6_Asp7delinsTer)
|
rs1555394745
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NM_183235.3(RAB27A):c.192A>G (p.Arg64=)
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NM_183235.3(RAB27A):c.195C>G (p.Gly65=)
|
rs897453247
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NM_183235.3(RAB27A):c.217T>G (p.Trp73Gly)
|
rs28938176
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NM_183235.3(RAB27A):c.220G>C (p.Asp74His)
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NM_183235.3(RAB27A):c.229G>A (p.Gly77Arg)
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NM_183235.3(RAB27A):c.239+19T>C
|
rs1481724263
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NM_183235.3(RAB27A):c.239+3A>G
|
rs1595695268
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NM_183235.3(RAB27A):c.239+4T>G
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NM_183235.3(RAB27A):c.239+5G>C
|
rs1269990628
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NM_183235.3(RAB27A):c.239+9T>A
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NM_183235.3(RAB27A):c.239+9T>C
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NM_183235.3(RAB27A):c.240-17T>G
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NM_183235.3(RAB27A):c.240-2A>C
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NM_183235.3(RAB27A):c.240-5C>T
|
rs750942183
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NM_183235.3(RAB27A):c.240-6T>G
|
rs1895913515
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NM_183235.3(RAB27A):c.240-8G>A
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rs928130000
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NM_183235.3(RAB27A):c.240-9T>C
|
rs758629648
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NM_183235.3(RAB27A):c.251dup (p.Leu84fs)
|
rs1895911610
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NM_183235.3(RAB27A):c.254C>T (p.Thr85Met)
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NM_183235.3(RAB27A):c.255G>A (p.Thr85=)
|
rs147130708
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NM_183235.3(RAB27A):c.259G>A (p.Ala87Thr)
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NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro)
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rs104894497
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NM_183235.3(RAB27A):c.259G>T (p.Ala87Ser)
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NM_183235.3(RAB27A):c.260C>T (p.Ala87Val)
|
rs201697259
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NM_183235.3(RAB27A):c.273T>G (p.Asp91Glu)
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NM_183235.3(RAB27A):c.288T>C (p.Leu96=)
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NM_183235.3(RAB27A):c.289C>T (p.Leu97=)
|
rs1354193730
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NM_183235.3(RAB27A):c.295T>C (p.Phe99Leu)
|
rs1371541124
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NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)
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rs141281020
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NM_183235.3(RAB27A):c.307A>C (p.Asn103His)
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rs144492641
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NM_183235.3(RAB27A):c.309T>C (p.Asn103=)
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NM_183235.3(RAB27A):c.331A>G (p.Arg111Gly)
|
rs2140972816
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NM_183235.3(RAB27A):c.335del (p.Asn112fs)
|
rs756644243
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NM_183235.3(RAB27A):c.337T>C (p.Trp113Arg)
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NM_183235.3(RAB27A):c.33G>A (p.Lys11=)
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NM_183235.3(RAB27A):c.342A>T (p.Ile114=)
|
rs1895903776
|
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NM_183235.3(RAB27A):c.343+10A>G
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NM_183235.3(RAB27A):c.343+11T>C
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NM_183235.3(RAB27A):c.343+17C>T
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NM_183235.3(RAB27A):c.343+3A>G
|
rs1895903423
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NM_183235.3(RAB27A):c.343+3_343+6del
|
rs886051317
|
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NM_183235.3(RAB27A):c.343+6del
|
rs1277146219
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NM_183235.3(RAB27A):c.344-7T>C
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NM_183235.3(RAB27A):c.351A>G (p.Leu117=)
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NM_183235.3(RAB27A):c.352C>T (p.Gln118Ter)
|
rs104894500
|
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NM_183235.3(RAB27A):c.355A>G (p.Met119Val)
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NM_183235.3(RAB27A):c.35T>C (p.Phe12Ser)
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NM_183235.3(RAB27A):c.365A>T (p.Tyr122Phe)
|
rs1259290779
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NM_183235.3(RAB27A):c.368G>A (p.Cys123Tyr)
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NM_183235.3(RAB27A):c.377del (p.Pro126fs)
|
rs1895696380
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NM_183235.3(RAB27A):c.379G>A (p.Asp127Asn)
|
rs2140958807
|
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NM_183235.3(RAB27A):c.389T>C (p.Leu130Pro)
|
rs104894498
|
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NM_183235.3(RAB27A):c.390G>A (p.Leu130=)
|
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NM_183235.3(RAB27A):c.396A>G (p.Gly132=)
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NM_183235.3(RAB27A):c.400A>G (p.Lys134Glu)
|
rs2140958637
|
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NM_183235.3(RAB27A):c.423_424del (p.Arg141fs)
|
rs766575263
|
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NM_183235.3(RAB27A):c.425T>C (p.Val142Ala)
|
rs569221128
|
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NM_183235.3(RAB27A):c.428T>C (p.Val143Ala)
|
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NM_183235.3(RAB27A):c.431A>G (p.Lys144Arg)
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NM_183235.3(RAB27A):c.435GGA[1] (p.Glu147del)
|
rs758624653
|
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NM_183235.3(RAB27A):c.439G>T (p.Glu147Ter)
|
rs75258234
|
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NM_183235.3(RAB27A):c.445A>G (p.Ile149Val)
|
rs1197622697
|
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NM_183235.3(RAB27A):c.454G>C (p.Ala152Pro)
|
rs104894499
|
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NM_183235.3(RAB27A):c.460A>T (p.Lys154Ter)
|
rs2140958324
|
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NM_183235.3(RAB27A):c.465T>A (p.Tyr155Ter)
|
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NM_183235.3(RAB27A):c.467+1G>C
|
rs756071120
|
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NM_183235.3(RAB27A):c.467+1G>T
|
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NM_183235.3(RAB27A):c.467+3_467+6del
|
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NM_183235.3(RAB27A):c.467+5G>A
|
rs2140958268
|
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NM_183235.3(RAB27A):c.468-14T>C
|
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NM_183235.3(RAB27A):c.468-7C>A
|
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NM_183235.3(RAB27A):c.475T>C (p.Tyr159His)
|
rs1894614852
|
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NM_183235.3(RAB27A):c.476A>G (p.Tyr159Cys)
|
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NM_183235.3(RAB27A):c.489T>C (p.Ser163=)
|
rs2140891719
|
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NM_183235.3(RAB27A):c.498T>G (p.Asn166Lys)
|
rs1894613403
|
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NM_183235.3(RAB27A):c.509_510del (p.Ile170fs)
|
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NM_183235.3(RAB27A):c.514C>T (p.Gln172Ter)
|
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NM_183235.3(RAB27A):c.514_518del (p.Gln172fs)
|
rs767481076
|
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NM_183235.3(RAB27A):c.519A>G (p.Ala173=)
|
rs1566893120
|
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NM_183235.3(RAB27A):c.529C>T (p.Leu177Phe)
|
rs2140891385
|
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NM_183235.3(RAB27A):c.532C>T (p.Leu178=)
|
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NM_183235.3(RAB27A):c.53_54del (p.Ser18fs)
|
rs1595700039
|
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NM_183235.3(RAB27A):c.542T>A (p.Ile181Lys)
|
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NM_183235.3(RAB27A):c.561G>A (p.Arg187=)
|
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NM_183235.3(RAB27A):c.568G>A (p.Asp190Asn)
|
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NM_183235.3(RAB27A):c.57T>C (p.Gly19=)
|
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NM_183235.3(RAB27A):c.592G>T (p.Val198Leu)
|
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NM_183235.3(RAB27A):c.593T>C (p.Val198Ala)
|
rs554967424
|
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NM_183235.3(RAB27A):c.597G>A (p.Val199=)
|
rs1894604106
|
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NM_183235.3(RAB27A):c.612T>C (p.His204=)
|
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NM_183235.3(RAB27A):c.613G>T (p.Ala205Ser)
|
rs928880499
|
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NM_183235.3(RAB27A):c.619dup (p.Thr207fs)
|
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|
NM_183235.3(RAB27A):c.638_642del (p.Glu213fs)
|
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|
NM_183235.3(RAB27A):c.662G>A (p.Cys221Tyr)
|
|
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|
NM_183235.3(RAB27A):c.87T>C (p.Tyr29=)
|
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NM_183235.3(RAB27A):c.91G>A (p.Asp31Asn)
|
|
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|
NM_183235.3(RAB27A):c.93T>C (p.Asp31=)
|
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|
NM_194463.2(RNF128):c.917C>G (p.Pro306Arg)
|
rs2147704423
|
|