NM_001134363.3(RBM20):c.3452-9=
|
rs7070640
|
0.96872
|
NM_001134363.3(RBM20):c.1337+32G>A
|
rs6585012
|
0.75089
|
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln)
|
rs942077
|
0.74386
|
NM_001134363.3(RBM20):c.192-42229C>T
|
rs10885031
|
0.56201
|
NM_001134363.3(RBM20):c.1338-36A>C
|
rs7898438
|
0.54481
|
NM_001134363.3(RBM20):c.*1104G>A
|
rs11195349
|
0.34292
|
NM_001134363.3(RBM20):c.1880+23T>C
|
rs11195338
|
0.31080
|
NM_001134363.3(RBM20):c.1527+8C>T
|
rs7077757
|
0.21586
|
NM_001134363.3(RBM20):c.1275+34T>C
|
rs61862866
|
0.21567
|
NM_001134363.3(RBM20):c.90G>A (p.Arg30=)
|
rs35141404
|
0.20903
|
NM_001134363.3(RBM20):c.*1553G>A
|
rs41292598
|
0.18418
|
NM_001134363.3(RBM20):c.*546C>T
|
rs72836956
|
0.17904
|
NM_001134363.3(RBM20):c.*834G>T
|
rs874241
|
0.11850
|
NM_001134363.3(RBM20):c.*2866C>T
|
rs12260847
|
0.08970
|
NM_001134363.3(RBM20):c.*448C>T
|
rs79603535
|
0.05270
|
NM_001134363.3(RBM20):c.*552G>C
|
rs74156303
|
0.04099
|
NM_001134363.3(RBM20):c.*386T>C
|
rs77555440
|
0.03119
|
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr)
|
rs7908490
|
0.02441
|
NM_001134363.3(RBM20):c.1801-11G>C
|
rs12572941
|
0.02426
|
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp)
|
rs61735268
|
0.02395
|
NM_001134363.3(RBM20):c.*2722T>G
|
rs61862946
|
0.01952
|
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=)
|
rs74339620
|
0.01800
|
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=)
|
rs75858380
|
0.01586
|
NM_001134363.3(RBM20):c.*417G>A
|
rs77569236
|
0.00703
|
NM_001134363.3(RBM20):c.1881-3C>T
|
rs138436392
|
0.00575
|
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu)
|
rs189569984
|
0.00554
|
NM_001134363.3(RBM20):c.*2202C>T
|
rs571001448
|
0.00510
|
NM_001134363.3(RBM20):c.2655+15A>G
|
rs187915202
|
0.00436
|
NM_001134363.3(RBM20):c.1275+13A>G
|
rs373230569
|
0.00392
|
NM_001134363.3(RBM20):c.3317-9G>T
|
rs899956804
|
0.00373
|
NM_001134363.3(RBM20):c.3317-19C>T
|
rs748164628
|
0.00371
|
NM_001134363.3(RBM20):c.3452-10C>T
|
rs60618533
|
0.00369
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg)
|
rs181769913
|
0.00324
|
NM_001134363.3(RBM20):c.*3289C>T
|
rs144896119
|
0.00310
|
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala)
|
rs147356378
|
0.00252
|
NM_001134363.3(RBM20):c.*512G>T
|
rs182895280
|
0.00249
|
NM_001134363.3(RBM20):c.*513A>T
|
rs188211368
|
0.00249
|
NM_001134363.3(RBM20):c.*484C>G
|
rs190879731
|
0.00247
|
NM_001134363.3(RBM20):c.150A>T (p.Pro50=)
|
rs376936285
|
0.00244
|
NM_001134363.3(RBM20):c.*999A>G
|
rs138114979
|
0.00234
|
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=)
|
rs537723089
|
0.00233
|
NM_001134363.3(RBM20):c.*1768C>T
|
rs11195350
|
0.00155
|
NM_001134363.3(RBM20):c.1528-16T>C
|
rs191166138
|
0.00134
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=)
|
rs41292592
|
0.00112
|
NM_001134363.3(RBM20):c.*3197A>G
|
rs545844933
|
0.00109
|
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile)
|
rs183130427
|
0.00108
|
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln)
|
rs188054898
|
0.00107
|
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=)
|
rs76048624
|
0.00102
|
NM_001134363.3(RBM20):c.280C>T (p.Leu94=)
|
rs182768779
|
0.00102
|
NM_001134363.3(RBM20):c.153G>T (p.Pro51=)
|
rs760605118
|
0.00083
|
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=)
|
rs200588338
|
0.00078
|
NM_001134363.3(RBM20):c.*2787A>T
|
rs566666703
|
0.00068
|
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val)
|
rs202238753
|
0.00066
|
NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile)
|
rs116442272
|
0.00063
|
NM_001134363.3(RBM20):c.*1867G>A
|
rs149300217
|
0.00058
|
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr)
|
rs199868951
|
0.00055
|
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser)
|
rs397516621
|
0.00051
|
NM_001134363.3(RBM20):c.*1360G>A
|
rs572337036
|
0.00048
|
NM_001134363.3(RBM20):c.*936T>A
|
rs150308379
|
0.00046
|
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=)
|
rs375626512
|
0.00046
|
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu)
|
rs371951525
|
0.00036
|
NM_001134363.3(RBM20):c.*1170G>A
|
rs182850328
|
0.00034
|
NM_001134363.3(RBM20):c.*985G>C
|
rs191479781
|
0.00033
|
NM_001134363.3(RBM20):c.*2148G>A
|
rs886046717
|
0.00032
|
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys)
|
rs554690506
|
0.00031
|
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=)
|
rs554167951
|
0.00031
|
NM_001134363.3(RBM20):c.*800G>A
|
rs557045846
|
0.00029
|
NM_001134363.3(RBM20):c.567G>T (p.Gln189His)
|
rs377623370
|
0.00029
|
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=)
|
rs374014662
|
0.00028
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001134363.3(RBM20):c.114G>T (p.Pro38=)
|
rs571013198
|
0.00027
|
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln)
|
rs372923744
|
0.00026
|
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg)
|
rs558674954
|
0.00025
|
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg)
|
rs201148126
|
0.00025
|
NM_001134363.3(RBM20):c.*251A>T
|
rs190896982
|
0.00024
|
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser)
|
rs200271618
|
0.00024
|
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu)
|
rs749285793
|
0.00020
|
NM_001134363.3(RBM20):c.*1863A>G
|
rs528368238
|
0.00019
|
NM_001134363.3(RBM20):c.3633G>A (p.Pro1211=)
|
rs781373863
|
0.00019
|
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)
|
rs397516625
|
0.00019
|
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met)
|
rs727505067
|
0.00018
|
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=)
|
rs751559376
|
0.00016
|
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser)
|
rs730880182
|
0.00016
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=)
|
rs764304126
|
0.00016
|
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys)
|
rs562882648
|
0.00016
|
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr)
|
rs376071070
|
0.00016
|
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val)
|
rs375355193
|
0.00016
|
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu)
|
rs766868824
|
0.00016
|
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=)
|
rs184312864
|
0.00015
|
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=)
|
rs727505095
|
0.00014
|
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile)
|
rs397516596
|
0.00014
|
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile)
|
rs727505310
|
0.00014
|
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu)
|
rs730880184
|
0.00014
|
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met)
|
rs371181124
|
0.00014
|
NM_001134363.3(RBM20):c.3573+16C>T
|
rs772863559
|
0.00014
|
NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=)
|
rs778124998
|
0.00013
|
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser)
|
rs923358109
|
0.00013
|
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr)
|
rs112226602
|
0.00012
|
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=)
|
rs562290651
|
0.00012
|
NM_001134363.3(RBM20):c.1275+8G>T
|
rs727505318
|
0.00011
|
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln)
|
rs143785916
|
0.00011
|
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile)
|
rs183770014
|
0.00011
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_001134363.3(RBM20):c.*263C>T
|
rs182152382
|
0.00010
|
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val)
|
rs727503387
|
0.00010
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
NM_001134363.3(RBM20):c.2953C>T (p.Pro985Ser)
|
rs555981231
|
0.00010
|
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp)
|
rs794729160
|
0.00010
|
NM_001134363.3(RBM20):c.*1666G>A
|
rs886046715
|
0.00009
|
NM_001134363.3(RBM20):c.*2951T>C
|
rs886046725
|
0.00009
|
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=)
|
rs751775695
|
0.00009
|
NM_001134363.3(RBM20):c.3451+14A>G
|
rs774391134
|
0.00009
|
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=)
|
rs377742289
|
0.00009
|
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys)
|
rs777768807
|
0.00009
|
NM_001134363.3(RBM20):c.*1539G>A
|
rs552540113
|
0.00008
|
NM_001134363.3(RBM20):c.*2229A>G
|
rs538388396
|
0.00008
|
NM_001134363.3(RBM20):c.*941C>T
|
rs548271514
|
0.00008
|
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn)
|
rs541330074
|
0.00008
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_001134363.3(RBM20):c.2239C>T (p.His747Tyr)
|
rs535221986
|
0.00008
|
NM_001134363.3(RBM20):c.2264G>A (p.Arg755His)
|
rs986602724
|
0.00008
|
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=)
|
rs1003478669
|
0.00008
|
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=)
|
rs575854668
|
0.00008
|
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys)
|
rs757389650
|
0.00008
|
NM_001134363.3(RBM20):c.7C>T (p.Leu3=)
|
rs993059293
|
0.00008
|
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=)
|
rs187423999
|
0.00008
|
NM_001134363.3(RBM20):c.*1452T>C
|
rs906770120
|
0.00007
|
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr)
|
rs876657971
|
0.00007
|
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=)
|
rs192232825
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=)
|
rs727503388
|
0.00007
|
NM_001134363.3(RBM20):c.882C>T (p.Ser294=)
|
rs374921844
|
0.00007
|
NM_001134363.3(RBM20):c.*3004T>A
|
rs3793704
|
0.00006
|
NM_001134363.3(RBM20):c.*3250A>G
|
rs886046726
|
0.00006
|
NM_001134363.3(RBM20):c.1113C>T (p.Ser371=)
|
rs747651241
|
0.00006
|
NM_001134363.3(RBM20):c.1138C>T (p.Arg380Trp)
|
rs540962668
|
0.00006
|
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=)
|
rs374299043
|
0.00006
|
NM_001134363.3(RBM20):c.169G>A (p.Gly57Ser)
|
rs1395898788
|
0.00006
|
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln)
|
rs138926584
|
0.00006
|
NM_001134363.3(RBM20):c.2152C>G (p.Leu718Val)
|
rs1024449251
|
0.00006
|
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys)
|
rs886038886
|
0.00006
|
NM_001134363.3(RBM20):c.2428A>G (p.Lys810Glu)
|
rs544407865
|
0.00006
|
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly)
|
rs758720475
|
0.00006
|
NM_001134363.3(RBM20):c.2736C>T (p.Asp912=)
|
rs368136394
|
0.00006
|
NM_001134363.3(RBM20):c.3075C>T (p.Tyr1025=)
|
rs777886957
|
0.00006
|
NM_001134363.3(RBM20):c.3245T>G (p.Leu1082Arg)
|
rs878854252
|
0.00006
|
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe)
|
rs371828469
|
0.00006
|
NM_001134363.3(RBM20):c.3316+11C>A
|
rs1480607643
|
0.00006
|
NM_001134363.3(RBM20):c.3462C>T (p.Phe1154=)
|
rs371172286
|
0.00006
|
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser)
|
rs374611807
|
0.00006
|
NM_001134363.3(RBM20):c.348C>T (p.Ala116=)
|
rs569709951
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001134363.3(RBM20):c.3574-7T>G
|
rs397516616
|
0.00006
|
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser)
|
rs375200447
|
0.00006
|
NM_001134363.3(RBM20):c.774G>A (p.Ser258=)
|
rs569846404
|
0.00006
|
NM_001134363.3(RBM20):c.924C>T (p.Val308=)
|
rs772918485
|
0.00006
|
NM_001134363.3(RBM20):c.*2528C>A
|
rs886046720
|
0.00005
|
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg)
|
rs201047984
|
0.00005
|
NM_001134363.3(RBM20):c.14C>T (p.Ala5Val)
|
rs1488746272
|
0.00005
|
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser)
|
rs372567331
|
0.00005
|
NM_001134363.3(RBM20):c.1620G>A (p.Leu540=)
|
rs1015562037
|
0.00005
|
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=)
|
rs1446760969
|
0.00005
|
NM_001134363.3(RBM20):c.1996C>T (p.Arg666Trp)
|
rs570820786
|
0.00005
|
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp)
|
rs397516599
|
0.00005
|
NM_001134363.3(RBM20):c.2691G>A (p.Gly897=)
|
rs549274248
|
0.00005
|
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys)
|
rs770328474
|
0.00005
|
NM_001134363.3(RBM20):c.3273A>G (p.Glu1091=)
|
rs886458288
|
0.00005
|
NM_001134363.3(RBM20):c.3317-19C>G
|
rs748164628
|
0.00005
|
NM_001134363.3(RBM20):c.3369C>T (p.Tyr1123=)
|
rs780897226
|
0.00005
|
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala)
|
rs768548680
|
0.00005
|
NM_001134363.3(RBM20):c.399C>T (p.Leu133=)
|
rs746776894
|
0.00005
|
NM_001134363.3(RBM20):c.523A>G (p.Ser175Gly)
|
rs553309602
|
0.00005
|
NM_001134363.3(RBM20):c.540C>T (p.Pro180=)
|
rs576099332
|
0.00005
|
NM_001134363.3(RBM20):c.*1619A>G
|
rs927932901
|
0.00004
|
NM_001134363.3(RBM20):c.*3256C>T
|
rs573002478
|
0.00004
|
NM_001134363.3(RBM20):c.1128C>T (p.Ile376=)
|
rs996751865
|
0.00004
|
NM_001134363.3(RBM20):c.1180C>T (p.Leu394=)
|
rs1471409886
|
0.00004
|
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser)
|
rs1160693970
|
0.00004
|
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn)
|
rs748133931
|
0.00004
|
NM_001134363.3(RBM20):c.1338-11G>A
|
rs372064165
|
0.00004
|
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=)
|
rs397516594
|
0.00004
|
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His)
|
rs762725902
|
0.00004
|
NM_001134363.3(RBM20):c.1767G>T (p.Arg589=)
|
rs929489764
|
0.00004
|
NM_001134363.3(RBM20):c.1791G>A (p.Leu597=)
|
rs201432122
|
0.00004
|
NM_001134363.3(RBM20):c.1806C>T (p.Pro602=)
|
rs367567507
|
0.00004
|
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val)
|
rs754805893
|
0.00004
|
NM_001134363.3(RBM20):c.1881-19C>T
|
rs574049321
|
0.00004
|
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp)
|
rs199972578
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly)
|
rs561904103
|
0.00004
|
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp)
|
rs529403382
|
0.00004
|
NM_001134363.3(RBM20):c.247C>A (p.Leu83Ile)
|
rs536357058
|
0.00004
|
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn)
|
rs1029261119
|
0.00004
|
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=)
|
rs755917660
|
0.00004
|
NM_001134363.3(RBM20):c.2688G>T (p.Glu896Asp)
|
rs950962230
|
0.00004
|
NM_001134363.3(RBM20):c.2916G>A (p.Gly972=)
|
rs1391384955
|
0.00004
|
NM_001134363.3(RBM20):c.2991G>A (p.Val997=)
|
rs756276591
|
0.00004
|
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln)
|
rs886046699
|
0.00004
|
NM_001134363.3(RBM20):c.3204C>G (p.Thr1068=)
|
rs746444255
|
0.00004
|
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg)
|
rs772708424
|
0.00004
|
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe)
|
rs769531546
|
0.00004
|
NM_001134363.3(RBM20):c.3544C>T (p.Arg1182Cys)
|
rs1171816793
|
0.00004
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
NM_001134363.3(RBM20):c.3594C>T (p.Ala1198=)
|
rs758908115
|
0.00004
|
NM_001134363.3(RBM20):c.363C>T (p.Asn121=)
|
rs727504930
|
0.00004
|
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg)
|
rs867232627
|
0.00004
|
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg)
|
rs541043583
|
0.00004
|
NM_001134363.3(RBM20):c.441C>T (p.His147=)
|
rs397516619
|
0.00004
|
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln)
|
rs561085365
|
0.00004
|
NM_001134363.3(RBM20):c.57G>T (p.Pro19=)
|
rs781263787
|
0.00004
|
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys)
|
rs779777625
|
0.00004
|
NM_001134363.3(RBM20):c.704G>T (p.Ser235Ile)
|
rs1303400859
|
0.00004
|
NM_001134363.3(RBM20):c.801C>T (p.Tyr267=)
|
rs879437834
|
0.00004
|
NM_001134363.3(RBM20):c.933G>C (p.Leu311=)
|
rs761015603
|
0.00004
|
NM_001134363.3(RBM20):c.99G>C (p.Pro33=)
|
rs921066961
|
0.00004
|
NM_001134363.3(RBM20):c.*1517C>T
|
rs886046714
|
0.00003
|
NM_001134363.3(RBM20):c.*1866C>T
|
rs886046716
|
0.00003
|
NM_001134363.3(RBM20):c.*1919A>C
|
rs1275431798
|
0.00003
|
NM_001134363.3(RBM20):c.*2054T>C
|
rs867192062
|
0.00003
|
NM_001134363.3(RBM20):c.*3259G>A
|
rs540217875
|
0.00003
|
NM_001134363.3(RBM20):c.*511G>A
|
rs886046709
|
0.00003
|
NM_001134363.3(RBM20):c.*965G>A
|
rs886046711
|
0.00003
|
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=)
|
rs397516590
|
0.00003
|
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro)
|
rs1021465138
|
0.00003
|
NM_001134363.3(RBM20):c.1171G>A (p.Val391Met)
|
rs763101142
|
0.00003
|
NM_001134363.3(RBM20):c.1221C>G (p.Pro407=)
|
rs1243243290
|
0.00003
|
NM_001134363.3(RBM20):c.1308C>T (p.His436=)
|
rs189600634
|
0.00003
|
NM_001134363.3(RBM20):c.1429+10G>T
|
rs778742738
|
0.00003
|
NM_001134363.3(RBM20):c.1429G>T (p.Asp477Tyr)
|
rs1004982001
|
0.00003
|
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)
|
rs183007628
|
0.00003
|
NM_001134363.3(RBM20):c.168C>T (p.Ala56=)
|
rs1424130999
|
0.00003
|
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=)
|
rs577194741
|
0.00003
|
NM_001134363.3(RBM20):c.1920C>A (p.Ser640Arg)
|
rs1439106449
|
0.00003
|
NM_001134363.3(RBM20):c.1934C>T (p.Pro645Leu)
|
rs776297244
|
0.00003
|
NM_001134363.3(RBM20):c.2043T>C (p.Tyr681=)
|
rs376380567
|
0.00003
|
NM_001134363.3(RBM20):c.2076C>T (p.Pro692=)
|
rs940799642
|
0.00003
|
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys)
|
rs190416018
|
0.00003
|
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser)
|
rs755241667
|
0.00003
|
NM_001134363.3(RBM20):c.2232C>T (p.Asn744=)
|
rs975320203
|
0.00003
|
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=)
|
rs1045844360
|
0.00003
|
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=)
|
rs397516605
|
0.00003
|
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile)
|
rs369747752
|
0.00003
|
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro)
|
rs886038858
|
0.00003
|
NM_001134363.3(RBM20):c.3125C>T (p.Thr1042Ile)
|
rs757326885
|
0.00003
|
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp)
|
rs199830512
|
0.00003
|
NM_001134363.3(RBM20):c.3189G>A (p.Val1063=)
|
rs1179002998
|
0.00003
|
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)
|
rs780673583
|
0.00003
|
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys)
|
rs565524160
|
0.00003
|
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu)
|
rs1241224023
|
0.00003
|
NM_001134363.3(RBM20):c.408A>G (p.Gln136=)
|
rs770818336
|
0.00003
|
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg)
|
rs543478618
|
0.00003
|
NM_001134363.3(RBM20):c.55C>A (p.Pro19Thr)
|
rs1353436698
|
0.00003
|
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser)
|
rs1041725339
|
0.00003
|
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg)
|
rs989951034
|
0.00003
|
NM_001134363.3(RBM20):c.901G>C (p.Ala301Pro)
|
rs1064796938
|
0.00003
|
NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu)
|
rs730880181
|
0.00002
|
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg)
|
rs199842148
|
0.00002
|
NM_001134363.3(RBM20):c.1175G>A (p.Arg392Gln)
|
rs751788298
|
0.00002
|
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn)
|
rs950210735
|
0.00002
|
NM_001134363.3(RBM20):c.1209C>T (p.His403=)
|
rs397516592
|
0.00002
|
NM_001134363.3(RBM20):c.1232C>T (p.Pro411Leu)
|
rs552114741
|
0.00002
|
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu)
|
rs876657972
|
0.00002
|
NM_001134363.3(RBM20):c.1338-1G>T
|
rs1265727354
|
0.00002
|
NM_001134363.3(RBM20):c.1338-20C>T
|
rs777211196
|
0.00002
|
NM_001134363.3(RBM20):c.1349G>A (p.Arg450Gln)
|
rs377091991
|
0.00002
|
NM_001134363.3(RBM20):c.1429+9G>A
|
rs1180340998
|
0.00002
|
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met)
|
rs397516595
|
0.00002
|
NM_001134363.3(RBM20):c.1528-18G>A
|
rs1336820301
|
0.00002
|
NM_001134363.3(RBM20):c.1542A>G (p.Lys514=)
|
rs1463897410
|
0.00002
|
NM_001134363.3(RBM20):c.1545G>C (p.Gly515=)
|
rs1208880928
|
0.00002
|
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=)
|
rs761674598
|
0.00002
|
NM_001134363.3(RBM20):c.1708A>G (p.Met570Val)
|
rs1222756409
|
0.00002
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
NM_001134363.3(RBM20):c.1820C>T (p.Ala607Val)
|
rs947755400
|
0.00002
|
NM_001134363.3(RBM20):c.1953C>T (p.Ser651=)
|
rs1464394104
|
0.00002
|
NM_001134363.3(RBM20):c.2022C>T (p.Asp674=)
|
rs1171457488
|
0.00002
|
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter)
|
rs794729150
|
0.00002
|
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly)
|
rs899167549
|
0.00002
|
NM_001134363.3(RBM20):c.2214G>A (p.Pro738=)
|
rs1057523887
|
0.00002
|
NM_001134363.3(RBM20):c.2225C>G (p.Ser742Cys)
|
rs985340296
|
0.00002
|
NM_001134363.3(RBM20):c.2263C>T (p.Arg755Cys)
|
rs770910910
|
0.00002
|
NM_001134363.3(RBM20):c.2282G>A (p.Arg761Gln)
|
rs556897484
|
0.00002
|
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)
|
rs397516602
|
0.00002
|
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg)
|
rs750988872
|
0.00002
|
NM_001134363.3(RBM20):c.2451C>T (p.Gly817=)
|
rs1346044592
|
0.00002
|
NM_001134363.3(RBM20):c.2550+12T>C
|
rs747168352
|
0.00002
|
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser)
|
rs1361625543
|
0.00002
|
NM_001134363.3(RBM20):c.2599G>A (p.Gly867Ser)
|
rs1218437735
|
0.00002
|
NM_001134363.3(RBM20):c.2679T>G (p.Ser893Arg)
|
rs1243335115
|
0.00002
|
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=)
|
rs1481403925
|
0.00002
|
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met)
|
rs947100716
|
0.00002
|
NM_001134363.3(RBM20):c.2814A>G (p.Lys938=)
|
rs1022202424
|
0.00002
|
NM_001134363.3(RBM20):c.2815G>A (p.Asp939Asn)
|
rs1442138837
|
0.00002
|
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly)
|
rs1353948871
|
0.00002
|
NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr)
|
rs794729155
|
0.00002
|
NM_001134363.3(RBM20):c.3023G>A (p.Arg1008Gln)
|
rs886038858
|
0.00002
|
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser)
|
rs794729156
|
0.00002
|
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser)
|
rs1479765434
|
0.00002
|
NM_001134363.3(RBM20):c.3216C>T (p.Pro1072=)
|
rs370346662
|
0.00002
|
NM_001134363.3(RBM20):c.3452-19A>G
|
rs1024831754
|
0.00002
|
NM_001134363.3(RBM20):c.3463G>A (p.Val1155Met)
|
rs1473408518
|
0.00002
|
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala)
|
rs794729158
|
0.00002
|
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr)
|
rs1300657058
|
0.00002
|
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=)
|
rs397516617
|
0.00002
|
NM_001134363.3(RBM20):c.3615C>T (p.Thr1205=)
|
rs1290529555
|
0.00002
|
NM_001134363.3(RBM20):c.36C>A (p.Asp12Glu)
|
rs573426783
|
0.00002
|
NM_001134363.3(RBM20):c.409C>T (p.Leu137=)
|
rs876657570
|
0.00002
|
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu)
|
rs977645949
|
0.00002
|
NM_001134363.3(RBM20):c.432T>G (p.Thr144=)
|
rs1241413079
|
0.00002
|
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp)
|
rs1458326422
|
0.00002
|
NM_001134363.3(RBM20):c.488G>A (p.Arg163Gln)
|
rs794729139
|
0.00002
|
NM_001134363.3(RBM20):c.594T>C (p.Pro198=)
|
rs1293542778
|
0.00002
|
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala)
|
rs996172004
|
0.00002
|
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val)
|
rs761557813
|
0.00002
|
NM_001134363.3(RBM20):c.832T>C (p.Phe278Leu)
|
rs1014048064
|
0.00002
|
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp)
|
rs1466787506
|
0.00002
|
NM_001134363.3(RBM20):c.954A>G (p.Gln318=)
|
rs766779254
|
0.00002
|
NM_001134363.3(RBM20):c.977C>T (p.Ser326Leu)
|
rs754268847
|
0.00002
|
NM_001134363.3(RBM20):c.978G>A (p.Ser326=)
|
rs930912173
|
0.00002
|
NM_001134363.3(RBM20):c.*1101T>G
|
rs1259201107
|
0.00001
|
NM_001134363.3(RBM20):c.*2296A>C
|
rs981333913
|
0.00001
|
NM_001134363.3(RBM20):c.*234T>C
|
rs553497591
|
0.00001
|
NM_001134363.3(RBM20):c.*2576T>C
|
rs1012545532
|
0.00001
|
NM_001134363.3(RBM20):c.*2737G>A
|
rs886046721
|
0.00001
|
NM_001134363.3(RBM20):c.*2867G>A
|
rs886046723
|
0.00001
|
NM_001134363.3(RBM20):c.*442G>A
|
rs370248434
|
0.00001
|
NM_001134363.3(RBM20):c.-31T>C
|
rs1192388291
|
0.00001
|
NM_001134363.3(RBM20):c.1002A>G (p.Thr334=)
|
rs760124791
|
0.00001
|
NM_001134363.3(RBM20):c.1004C>T (p.Ala335Val)
|
rs765185397
|
0.00001
|
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr)
|
rs876657970
|
0.00001
|
NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys)
|
rs794729142
|
0.00001
|
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=)
|
rs749130573
|
0.00001
|
NM_001134363.3(RBM20):c.105C>T (p.Pro35=)
|
rs1463145512
|
0.00001
|
NM_001134363.3(RBM20):c.1063C>T (p.Pro355Ser)
|
rs998547889
|
0.00001
|
NM_001134363.3(RBM20):c.1078A>G (p.Thr360Ala)
|
rs1432765424
|
0.00001
|
NM_001134363.3(RBM20):c.1092C>T (p.Phe364=)
|
rs1233226046
|
0.00001
|
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln)
|
rs878854247
|
0.00001
|
NM_001134363.3(RBM20):c.1136G>A (p.Gly379Glu)
|
rs577020509
|
0.00001
|
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln)
|
rs777080028
|
0.00001
|
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr)
|
rs886046703
|
0.00001
|
NM_001134363.3(RBM20):c.1160C>T (p.Ala387Val)
|
rs919432113
|
0.00001
|
NM_001134363.3(RBM20):c.1162T>C (p.Leu388=)
|
rs1047268912
|
0.00001
|
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln)
|
rs780367353
|
0.00001
|
NM_001134363.3(RBM20):c.1174C>T (p.Arg392Trp)
|
rs771764951
|
0.00001
|
NM_001134363.3(RBM20):c.1200C>T (p.Asn400=)
|
rs1291756505
|
0.00001
|
NM_001134363.3(RBM20):c.1210G>A (p.Gly404Ser)
|
rs530925237
|
0.00001
|
NM_001134363.3(RBM20):c.1218C>A (p.Ala406=)
|
rs1289041673
|
0.00001
|
NM_001134363.3(RBM20):c.1221C>A (p.Pro407=)
|
rs1243243290
|
0.00001
|
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg)
|
rs727505308
|
0.00001
|
NM_001134363.3(RBM20):c.1265T>C (p.Phe422Ser)
|
rs932538273
|
0.00001
|
NM_001134363.3(RBM20):c.126G>A (p.Gln42=)
|
rs925187151
|
0.00001
|
NM_001134363.3(RBM20):c.1276-8T>A
|
rs886046704
|
0.00001
|
NM_001134363.3(RBM20):c.1279T>C (p.Trp427Arg)
|
rs1844378725
|
0.00001
|
NM_001134363.3(RBM20):c.1290T>C (p.His430=)
|
rs1298729197
|
0.00001
|
NM_001134363.3(RBM20):c.1309G>A (p.Ala437Thr)
|
rs939425427
|
0.00001
|
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln)
|
rs563500712
|
0.00001
|
NM_001134363.3(RBM20):c.1326C>G (p.Val442=)
|
rs147650685
|
0.00001
|
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del)
|
rs1229525146
|
0.00001
|
NM_001134363.3(RBM20):c.1338-4C>G
|
rs753677364
|
0.00001
|
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp)
|
rs886039129
|
0.00001
|
NM_001134363.3(RBM20):c.134C>T (p.Pro45Leu)
|
rs1036333804
|
0.00001
|
NM_001134363.3(RBM20):c.1360G>T (p.Gly454Cys)
|
rs780583951
|
0.00001
|
NM_001134363.3(RBM20):c.1365G>A (p.Ser455=)
|
rs1414344349
|
0.00001
|
NM_001134363.3(RBM20):c.1380G>A (p.Leu460=)
|
rs757011562
|
0.00001
|
NM_001134363.3(RBM20):c.1384G>A (p.Ala462Thr)
|
rs1285889652
|
0.00001
|
NM_001134363.3(RBM20):c.1396A>G (p.Ser466Gly)
|
rs1330659380
|
0.00001
|
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg)
|
rs775062085
|
0.00001
|
NM_001134363.3(RBM20):c.1429+1G>A
|
rs1193393493
|
0.00001
|
NM_001134363.3(RBM20):c.1444C>G (p.Leu482Val)
|
rs752506719
|
0.00001
|
NM_001134363.3(RBM20):c.1454C>T (p.Ser485Leu)
|
rs764016326
|
0.00001
|
NM_001134363.3(RBM20):c.145C>G (p.Gln49Glu)
|
rs912374533
|
0.00001
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
NM_001134363.3(RBM20):c.1498A>T (p.Thr500Ser)
|
rs1452282601
|
0.00001
|
NM_001134363.3(RBM20):c.1517T>C (p.Val506Ala)
|
rs1590677685
|
0.00001
|
NM_001134363.3(RBM20):c.1521G>A (p.Gly507=)
|
rs1844401435
|
0.00001
|
NM_001134363.3(RBM20):c.1527+10G>A
|
rs1434850211
|
0.00001
|
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln)
|
rs876657974
|
0.00001
|
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys)
|
rs369835514
|
0.00001
|
NM_001134363.3(RBM20):c.1554T>A (p.Arg518=)
|
rs1237509064
|
0.00001
|
NM_001134363.3(RBM20):c.1557G>A (p.Val519=)
|
rs1049924561
|
0.00001
|
NM_001134363.3(RBM20):c.1593T>A (p.Thr531=)
|
rs955486548
|
0.00001
|
NM_001134363.3(RBM20):c.1656G>A (p.Lys552=)
|
rs1159672633
|
0.00001
|
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu)
|
rs993569055
|
0.00001
|
NM_001134363.3(RBM20):c.1668+17T>C
|
rs1797362664
|
0.00001
|
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr)
|
rs758772050
|
0.00001
|
NM_001134363.3(RBM20):c.1701A>G (p.Ala567=)
|
rs557873670
|
0.00001
|
NM_001134363.3(RBM20):c.1723C>G (p.Gln575Glu)
|
rs1030751538
|
0.00001
|
NM_001134363.3(RBM20):c.1741A>G (p.Ile581Val)
|
rs1369977043
|
0.00001
|
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn)
|
rs1444950975
|
0.00001
|
NM_001134363.3(RBM20):c.1747G>A (p.Gly583Ser)
|
rs1209985002
|
0.00001
|
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=)
|
rs727504820
|
0.00001
|
NM_001134363.3(RBM20):c.1765C>T (p.Arg589Trp)
|
rs919402785
|
0.00001
|
NM_001134363.3(RBM20):c.1784A>G (p.Lys595Arg)
|
rs542484442
|
0.00001
|
NM_001134363.3(RBM20):c.1801-5G>T
|
rs995878595
|
0.00001
|
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=)
|
rs751318089
|
0.00001
|
NM_001134363.3(RBM20):c.1830C>A (p.Ile610=)
|
rs1043758571
|
0.00001
|
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln)
|
rs1366402693
|
0.00001
|
NM_001134363.3(RBM20):c.1880+6G>T
|
rs1210149101
|
0.00001
|
NM_001134363.3(RBM20):c.1881-1G>C
|
rs1424661837
|
0.00001
|
NM_001134363.3(RBM20):c.1881A>G (p.Arg627=)
|
rs1482868696
|
0.00001
|
NM_001134363.3(RBM20):c.1894A>G (p.Arg632Gly)
|
rs1470779057
|
0.00001
|
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser)
|
rs767451635
|
0.00001
|
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu)
|
rs747880281
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)
|
rs267607002
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001134363.3(RBM20):c.1908T>C (p.Arg636=)
|
rs1428731969
|
0.00001
|
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp)
|
rs772991270
|
0.00001
|
NM_001134363.3(RBM20):c.1935G>A (p.Pro645=)
|
rs184428735
|
0.00001
|
NM_001134363.3(RBM20):c.1949C>T (p.Pro650Leu)
|
rs899383029
|
0.00001
|
NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro)
|
rs1275195637
|
0.00001
|
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=)
|
rs1060504913
|
0.00001
|
NM_001134363.3(RBM20):c.196G>A (p.Ala66Thr)
|
rs1051972948
|
0.00001
|
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys)
|
rs397516598
|
0.00001
|
NM_001134363.3(RBM20):c.1982C>G (p.Pro661Arg)
|
rs1251592783
|
0.00001
|
NM_001134363.3(RBM20):c.1988G>A (p.Gly663Asp)
|
rs864622685
|
0.00001
|
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser)
|
rs1279998131
|
0.00001
|
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp)
|
rs1204905333
|
0.00001
|
NM_001134363.3(RBM20):c.2016C>T (p.Gly672=)
|
rs547089283
|
0.00001
|
NM_001134363.3(RBM20):c.2021A>G (p.Asp674Gly)
|
rs1475557145
|
0.00001
|
NM_001134363.3(RBM20):c.2031G>A (p.Glu677=)
|
rs1177135320
|
0.00001
|
NM_001134363.3(RBM20):c.2038C>T (p.Pro680Ser)
|
rs1387833836
|
0.00001
|
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly)
|
rs1051836531
|
0.00001
|
NM_001134363.3(RBM20):c.2063G>A (p.Arg688Gln)
|
rs776778214
|
0.00001
|
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu)
|
rs550942448
|
0.00001
|
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=)
|
rs890520365
|
0.00001
|
NM_001134363.3(RBM20):c.2072C>T (p.Ala691Val)
|
rs1293517489
|
0.00001
|
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg)
|
rs376463335
|
0.00001
|
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn)
|
rs957430941
|
0.00001
|
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys)
|
rs397516600
|
0.00001
|
NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys)
|
rs750763255
|
0.00001
|
NM_001134363.3(RBM20):c.2146C>T (p.Arg716Trp)
|
rs1405564573
|
0.00001
|
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys)
|
rs551819918
|
0.00001
|
NM_001134363.3(RBM20):c.2153T>C (p.Leu718Pro)
|
rs567017513
|
0.00001
|
NM_001134363.3(RBM20):c.2172C>T (p.Asp724=)
|
rs368933889
|
0.00001
|
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala)
|
rs967504449
|
0.00001
|
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter)
|
rs1393804220
|
0.00001
|
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly)
|
rs1161452943
|
0.00001
|
NM_001134363.3(RBM20):c.2193G>C (p.Arg731Ser)
|
rs1475940613
|
0.00001
|
NM_001134363.3(RBM20):c.219A>G (p.Pro73=)
|
rs1355159778
|
0.00001
|
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro)
|
rs1361123068
|
0.00001
|
NM_001134363.3(RBM20):c.2237C>T (p.Pro746Leu)
|
rs1250264103
|
0.00001
|
NM_001134363.3(RBM20):c.2271C>T (p.Asp757=)
|
rs1168255004
|
0.00001
|
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser)
|
rs1371567866
|
0.00001
|
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys)
|
rs1463526980
|
0.00001
|
NM_001134363.3(RBM20):c.2281C>T (p.Arg761Trp)
|
rs781256531
|
0.00001
|
NM_001134363.3(RBM20):c.2289G>C (p.Glu763Asp)
|
rs769150179
|
0.00001
|
NM_001134363.3(RBM20):c.2304G>A (p.Ser768=)
|
rs80336115
|
0.00001
|
NM_001134363.3(RBM20):c.2331T>C (p.Asp777=)
|
rs1428730678
|
0.00001
|
NM_001134363.3(RBM20):c.2337C>T (p.Pro779=)
|
rs1179283749
|
0.00001
|
NM_001134363.3(RBM20):c.2347A>G (p.Arg783Gly)
|
rs1287523613
|
0.00001
|
NM_001134363.3(RBM20):c.2351G>T (p.Arg784Met)
|
rs1359372013
|
0.00001
|
NM_001134363.3(RBM20):c.237G>A (p.Pro79=)
|
rs751872145
|
0.00001
|
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser)
|
rs999008497
|
0.00001
|
NM_001134363.3(RBM20):c.2388C>G (p.Pro796=)
|
rs1057522796
|
0.00001
|
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys)
|
rs957248353
|
0.00001
|
NM_001134363.3(RBM20):c.2424G>T (p.Gly808=)
|
rs1221011995
|
0.00001
|
NM_001134363.3(RBM20):c.2436T>A (p.Thr812=)
|
rs748814058
|
0.00001
|
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys)
|
rs377259044
|
0.00001
|
NM_001134363.3(RBM20):c.2476A>C (p.Asn826His)
|
rs1844793217
|
0.00001
|
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly)
|
rs371116877
|
0.00001
|
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=)
|
rs794727966
|
0.00001
|
NM_001134363.3(RBM20):c.2523A>G (p.Arg841=)
|
rs1176057123
|
0.00001
|
NM_001134363.3(RBM20):c.2565A>C (p.Glu855Asp)
|
rs878854250
|
0.00001
|
NM_001134363.3(RBM20):c.2567A>C (p.Gln856Pro)
|
rs1442388691
|
0.00001
|
NM_001134363.3(RBM20):c.2591A>C (p.Gln864Pro)
|
rs1564663863
|
0.00001
|
NM_001134363.3(RBM20):c.2616A>G (p.Glu872=)
|
rs1356159353
|
0.00001
|
NM_001134363.3(RBM20):c.261C>T (p.Ala87=)
|
rs886038415
|
0.00001
|
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu)
|
rs368291152
|
0.00001
|
NM_001134363.3(RBM20):c.2656-15T>C
|
rs1222997158
|
0.00001
|
NM_001134363.3(RBM20):c.2676A>C (p.Glu892Asp)
|
rs1447611071
|
0.00001
|
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys)
|
rs112880805
|
0.00001
|
NM_001134363.3(RBM20):c.275C>T (p.Ala92Val)
|
rs1344144278
|
0.00001
|
NM_001134363.3(RBM20):c.27G>C (p.Gln9His)
|
rs1157177960
|
0.00001
|
NM_001134363.3(RBM20):c.2835A>G (p.Thr945=)
|
rs1043106270
|
0.00001
|
NM_001134363.3(RBM20):c.2847G>C (p.Val949=)
|
rs1379129358
|
0.00001
|
NM_001134363.3(RBM20):c.287C>T (p.Ala96Val)
|
rs1195345503
|
0.00001
|
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=)
|
rs587781138
|
0.00001
|
NM_001134363.3(RBM20):c.2942C>T (p.Pro981Leu)
|
rs1460424271
|
0.00001
|
NM_001134363.3(RBM20):c.294C>G (p.Leu98=)
|
rs1590673849
|
0.00001
|
NM_001134363.3(RBM20):c.2960C>T (p.Ala987Val)
|
rs1844910564
|
0.00001
|
NM_001134363.3(RBM20):c.299T>G (p.Leu100Arg)
|
rs1060503417
|
0.00001
|
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp)
|
rs397516610
|
0.00001
|
NM_001134363.3(RBM20):c.3025A>G (p.Lys1009Glu)
|
rs1344905271
|
0.00001
|
NM_001134363.3(RBM20):c.303C>A (p.His101Gln)
|
rs1172371194
|
0.00001
|
NM_001134363.3(RBM20):c.3040G>T (p.Glu1014Ter)
|
rs1220240959
|
0.00001
|
NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr)
|
rs730880186
|
0.00001
|
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys)
|
rs866975469
|
0.00001
|
NM_001134363.3(RBM20):c.3096G>A (p.Val1032=)
|
rs768655519
|
0.00001
|
NM_001134363.3(RBM20):c.3097G>A (p.Glu1033Lys)
|
rs1564664608
|
0.00001
|
NM_001134363.3(RBM20):c.3099G>A (p.Glu1033=)
|
rs1463977943
|
0.00001
|
NM_001134363.3(RBM20):c.3109G>A (p.Val1037Ile)
|
rs1406011277
|
0.00001
|
NM_001134363.3(RBM20):c.3119C>G (p.Ala1040Gly)
|
rs878854251
|
0.00001
|
NM_001134363.3(RBM20):c.3129C>A (p.Val1043=)
|
rs766139569
|
0.00001
|
NM_001134363.3(RBM20):c.313C>T (p.Leu105=)
|
rs397516611
|
0.00001
|
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr)
|
rs890053031
|
0.00001
|
NM_001134363.3(RBM20):c.3160G>C (p.Glu1054Gln)
|
rs780301164
|
0.00001
|
NM_001134363.3(RBM20):c.3167C>T (p.Ala1056Val)
|
rs947120934
|
0.00001
|
NM_001134363.3(RBM20):c.3198C>T (p.Cys1066=)
|
rs1844916348
|
0.00001
|
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs)
|
rs1844916553
|
0.00001
|
NM_001134363.3(RBM20):c.321G>C (p.Gln107His)
|
rs1413181007
|
0.00001
|
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val)
|
rs748335429
|
0.00001
|
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys)
|
rs959605686
|
0.00001
|
NM_001134363.3(RBM20):c.3315G>A (p.Pro1105=)
|
rs772179438
|
0.00001
|
NM_001134363.3(RBM20):c.3316+7A>C
|
rs1357286246
|
0.00001
|
NM_001134363.3(RBM20):c.3316+8T>C
|
rs1223878303
|
0.00001
|
NM_001134363.3(RBM20):c.3316+9C>T
|
rs796080099
|
0.00001
|
NM_001134363.3(RBM20):c.3317-10T>C
|
rs772243422
|
0.00001
|
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=)
|
rs991930637
|
0.00001
|
NM_001134363.3(RBM20):c.3336A>G (p.Glu1112=)
|
rs1264759117
|
0.00001
|
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=)
|
rs397516613
|
0.00001
|
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=)
|
rs397516614
|
0.00001
|
NM_001134363.3(RBM20):c.3378G>A (p.Val1126=)
|
rs796430041
|
0.00001
|
NM_001134363.3(RBM20):c.3402G>A (p.Leu1134=)
|
rs1437581340
|
0.00001
|
NM_001134363.3(RBM20):c.3431G>A (p.Ser1144Asn)
|
rs1353732061
|
0.00001
|
NM_001134363.3(RBM20):c.3440G>C (p.Ser1147Thr)
|
rs542392971
|
0.00001
|
NM_001134363.3(RBM20):c.3452G>A (p.Gly1151Glu)
|
rs1185476843
|
0.00001
|
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala)
|
rs1185476843
|
0.00001
|
NM_001134363.3(RBM20):c.3489C>T (p.Cys1163=)
|
rs1395153921
|
0.00001
|
NM_001134363.3(RBM20):c.3493C>T (p.Leu1165=)
|
rs1309952731
|
0.00001
|
NM_001134363.3(RBM20):c.3494T>C (p.Leu1165Pro)
|
rs1341670588
|
0.00001
|
NM_001134363.3(RBM20):c.3495G>A (p.Leu1165=)
|
rs1244898348
|
0.00001
|
NM_001134363.3(RBM20):c.349G>A (p.Ala117Thr)
|
rs373480063
|
0.00001
|
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val)
|
rs371754487
|
0.00001
|
NM_001134363.3(RBM20):c.3516C>T (p.Ser1172=)
|
rs781463840
|
0.00001
|
NM_001134363.3(RBM20):c.352A>G (p.Thr118Ala)
|
rs878854253
|
0.00001
|
NM_001134363.3(RBM20):c.3534G>A (p.Met1178Ile)
|
rs932864733
|
0.00001
|
NM_001134363.3(RBM20):c.3555C>A (p.Val1185=)
|
rs545855573
|
0.00001
|
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys)
|
rs1338307495
|
0.00001
|
NM_001134363.3(RBM20):c.3574-15C>T
|
rs898223638
|
0.00001
|
NM_001134363.3(RBM20):c.3574-19T>C
|
rs1057522723
|
0.00001
|
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys)
|
rs535839168
|
0.00001
|
NM_001134363.3(RBM20):c.359del (p.Leu120fs)
|
rs1173576141
|
0.00001
|
NM_001134363.3(RBM20):c.3601G>A (p.Gly1201Ser)
|
rs751621383
|
0.00001
|
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp)
|
rs1159249168
|
0.00001
|
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=)
|
rs892459274
|
0.00001
|
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val)
|
rs397516618
|
0.00001
|
NM_001134363.3(RBM20):c.3636G>A (p.Arg1212=)
|
rs997329188
|
0.00001
|
NM_001134363.3(RBM20):c.3655G>A (p.Val1219Met)
|
rs374875207
|
0.00001
|
NM_001134363.3(RBM20):c.3660A>G (p.Pro1220=)
|
rs376303757
|
0.00001
|
NM_001134363.3(RBM20):c.3661C>T (p.Arg1221Cys)
|
rs144806140
|
0.00001
|
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His)
|
rs1421547378
|
0.00001
|
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg)
|
rs1057524087
|
0.00001
|
NM_001134363.3(RBM20):c.397C>G (p.Leu133Val)
|
rs1446238793
|
0.00001
|
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser)
|
rs1460527562
|
0.00001
|
NM_001134363.3(RBM20):c.413G>C (p.Arg138Thr)
|
rs1387283537
|
0.00001
|
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr)
|
rs1416612925
|
0.00001
|
NM_001134363.3(RBM20):c.420G>A (p.Pro140=)
|
rs776692347
|
0.00001
|
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp)
|
rs1060503413
|
0.00001
|
NM_001134363.3(RBM20):c.467C>T (p.Ala156Val)
|
rs921903094
|
0.00001
|
NM_001134363.3(RBM20):c.485C>T (p.Thr162Ile)
|
rs1214311876
|
0.00001
|
NM_001134363.3(RBM20):c.522C>A (p.Pro174=)
|
rs890687647
|
0.00001
|
NM_001134363.3(RBM20):c.52C>A (p.Gln18Lys)
|
rs960474640
|
0.00001
|
NM_001134363.3(RBM20):c.542G>A (p.Gly181Glu)
|
rs1371208217
|
0.00001
|
NM_001134363.3(RBM20):c.555C>T (p.Asn185=)
|
rs377139558
|
0.00001
|
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu)
|
rs1321284191
|
0.00001
|
NM_001134363.3(RBM20):c.600T>G (p.Thr200=)
|
rs876657571
|
0.00001
|
NM_001134363.3(RBM20):c.629C>T (p.Pro210Leu)
|
rs1564843906
|
0.00001
|
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val)
|
rs1189201346
|
0.00001
|
NM_001134363.3(RBM20):c.658G>A (p.Gly220Arg)
|
rs1844340919
|
0.00001
|
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile)
|
rs794729140
|
0.00001
|
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr)
|
rs1033220280
|
0.00001
|
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys)
|
rs1478721868
|
0.00001
|
NM_001134363.3(RBM20):c.691T>A (p.Tyr231Asn)
|
rs1564843957
|
0.00001
|
NM_001134363.3(RBM20):c.707C>A (p.Ser236Tyr)
|
rs548382173
|
0.00001
|
NM_001134363.3(RBM20):c.717A>T (p.Thr239=)
|
rs886046700
|
0.00001
|
NM_001134363.3(RBM20):c.721G>C (p.Gly241Arg)
|
rs932090112
|
0.00001
|
NM_001134363.3(RBM20):c.735T>C (p.Asp245=)
|
rs548804547
|
0.00001
|
NM_001134363.3(RBM20):c.762G>A (p.Ser254=)
|
rs1175327119
|
0.00001
|
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val)
|
rs940901720
|
0.00001
|
NM_001134363.3(RBM20):c.788A>G (p.Tyr263Cys)
|
rs886046701
|
0.00001
|
NM_001134363.3(RBM20):c.793G>A (p.Gly265Arg)
|
rs1237864932
|
0.00001
|
NM_001134363.3(RBM20):c.822T>C (p.Gly274=)
|
rs1209966955
|
0.00001
|
NM_001134363.3(RBM20):c.838A>G (p.Lys280Glu)
|
rs1414387984
|
0.00001
|
NM_001134363.3(RBM20):c.856A>G (p.Asn286Asp)
|
rs1324823773
|
0.00001
|
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys)
|
rs1339836806
|
0.00001
|
NM_001134363.3(RBM20):c.864A>G (p.Gln288=)
|
rs1354313838
|
0.00001
|
NM_001134363.3(RBM20):c.871C>T (p.His291Tyr)
|
rs1310257089
|
0.00001
|
NM_001134363.3(RBM20):c.883G>A (p.Gly295Arg)
|
rs368084708
|
0.00001
|
NM_001134363.3(RBM20):c.967C>A (p.His323Asn)
|
rs868524421
|
0.00001
|
NM_001134363.3(RBM20):c.999C>G (p.Leu333=)
|
rs1284279454
|
0.00001
|
GRCh37/hg19 10q25.2(chr10:112516278-112591134)
|
|
|
NC_000010.10:g.(?_112540539)_(112583392_?)del
|
|
|
NC_000010.10:g.(?_112579810)_(112595756_?)dup
|
|
|
NC_000010.11:g.(?_110820062)_(110835988_?)del
|
|
|
NM_001134363.3(RBM20):c.*1166G>T
|
rs952991912
|
|
NM_001134363.3(RBM20):c.*1201T>A
|
rs886046713
|
|
NM_001134363.3(RBM20):c.*1723G>A
|
rs770927031
|
|
NM_001134363.3(RBM20):c.*20A>T
|
rs886046707
|
|
NM_001134363.3(RBM20):c.*222C>T
|
rs1845126435
|
|
NM_001134363.3(RBM20):c.*2443C>G
|
rs528082523
|
|
NM_001134363.3(RBM20):c.*2673A>C
|
rs1272311496
|
|
NM_001134363.3(RBM20):c.*2749C>T
|
rs986169450
|
|
NM_001134363.3(RBM20):c.*2839C>G
|
rs886046722
|
|
NM_001134363.3(RBM20):c.*2925T>G
|
rs886046724
|
|
NM_001134363.3(RBM20):c.*3296T>G
|
rs886046727
|
|
NM_001134363.3(RBM20):c.*3427G>T
|
rs1016358175
|
|
NM_001134363.3(RBM20):c.*552G>A
|
rs74156303
|
|
NM_001134363.3(RBM20):c.*628T>G
|
rs886046710
|
|
NM_001134363.3(RBM20):c.*72T>G
|
rs886046708
|
|
NM_001134363.3(RBM20):c.1001C>T (p.Thr334Ile)
|
|
|
NM_001134363.3(RBM20):c.1004C>G (p.Ala335Gly)
|
|
|
NM_001134363.3(RBM20):c.1007G>A (p.Gly336Asp)
|
|
|
NM_001134363.3(RBM20):c.1008T>C (p.Gly336=)
|
|
|
NM_001134363.3(RBM20):c.1012A>G (p.Met338Val)
|
|
|
NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter)
|
rs1554898987
|
|
NM_001134363.3(RBM20):c.1020T>A (p.Pro340=)
|
|
|
NM_001134363.3(RBM20):c.1021C>G (p.Pro341Ala)
|
|
|
NM_001134363.3(RBM20):c.1023A>G (p.Pro341=)
|
|
|
NM_001134363.3(RBM20):c.1027C>G (p.His343Asp)
|
rs112226602
|
|
NM_001134363.3(RBM20):c.1029C>T (p.His343=)
|
rs1844351084
|
|
NM_001134363.3(RBM20):c.103C>A (p.Pro35Thr)
|
|
|
NM_001134363.3(RBM20):c.103C>T (p.Pro35Ser)
|
|
|
NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg)
|
rs2134792790
|
|
NM_001134363.3(RBM20):c.1051G>A (p.Asp351Asn)
|
rs372999896
|
|
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His)
|
rs372999896
|
|
NM_001134363.3(RBM20):c.1053C>A (p.Asp351Glu)
|
rs192232825
|
|
NM_001134363.3(RBM20):c.1056C>T (p.Pro352=)
|
rs397516590
|
|
NM_001134363.3(RBM20):c.1070C>A (p.Ser357Ter)
|
|
|
NM_001134363.3(RBM20):c.1072G>A (p.Asp358Asn)
|
|
|
NM_001134363.3(RBM20):c.1075_1076del (p.Arg359fs)
|
|
|
NM_001134363.3(RBM20):c.1079C>T (p.Thr360Ile)
|
rs1477743309
|
|
NM_001134363.3(RBM20):c.1092C>A (p.Phe364Leu)
|
|
|
NM_001134363.3(RBM20):c.1097G>A (p.Gly366Asp)
|
rs1201270166
|
|
NM_001134363.3(RBM20):c.1097G>T (p.Gly366Val)
|
|
|
NM_001134363.3(RBM20):c.1099C>T (p.Arg367Trp)
|
|
|
NM_001134363.3(RBM20):c.1101G>T (p.Arg367=)
|
rs796631295
|
|
NM_001134363.3(RBM20):c.1110C>T (p.Asn370=)
|
rs2135044517
|
|
NM_001134363.3(RBM20):c.1112G>T (p.Ser371Ile)
|
rs2135044522
|
|
NM_001134363.3(RBM20):c.1130G>A (p.Gly377Asp)
|
rs1844353297
|
|
NM_001134363.3(RBM20):c.1134T>C (p.Ala378=)
|
|
|
NM_001134363.3(RBM20):c.1144G>T (p.Ala382Ser)
|
|
|
NM_001134363.3(RBM20):c.1148A>C (p.Lys383Thr)
|
|
|
NM_001134363.3(RBM20):c.1149G>A (p.Lys383=)
|
|
|
NM_001134363.3(RBM20):c.1156C>A (p.Gln386Lys)
|
|
|
NM_001134363.3(RBM20):c.1156C>G (p.Gln386Glu)
|
|
|
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter)
|
rs794729143
|
|
NM_001134363.3(RBM20):c.115C>T (p.Arg39Ter)
|
rs1281593181
|
|
NM_001134363.3(RBM20):c.1164G>C (p.Leu388Phe)
|
rs1844354317
|
|
NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala)
|
rs567118667
|
|
NM_001134363.3(RBM20):c.1172T>G (p.Val391Gly)
|
rs567118667
|
|
NM_001134363.3(RBM20):c.1174C>G (p.Arg392Gly)
|
|
|
NM_001134363.3(RBM20):c.1175G>C (p.Arg392Pro)
|
rs751788298
|
|
NM_001134363.3(RBM20):c.1176G>A (p.Arg392=)
|
|
|
NM_001134363.3(RBM20):c.1177C>G (p.Pro393Ala)
|
rs563411472
|
|
NM_001134363.3(RBM20):c.1189C>T (p.His397Tyr)
|
rs2135044870
|
|
NM_001134363.3(RBM20):c.118G>C (p.Gly40Arg)
|
rs1861839858
|
|
NM_001134363.3(RBM20):c.1191T>C (p.His397=)
|
rs2135044886
|
|
NM_001134363.3(RBM20):c.1196T>C (p.Leu399Pro)
|
rs916046415
|
|
NM_001134363.3(RBM20):c.119G>C (p.Gly40Ala)
|
rs2134792879
|
|
NM_001134363.3(RBM20):c.1206dup (p.His403fs)
|
rs1844355459
|
|
NM_001134363.3(RBM20):c.120G>T (p.Gly40=)
|
|
|
NM_001134363.3(RBM20):c.1210G>T (p.Gly404Cys)
|
rs530925237
|
|
NM_001134363.3(RBM20):c.1212T>G (p.Gly404=)
|
rs2135045032
|
|
NM_001134363.3(RBM20):c.1217C>T (p.Ala406Val)
|
|
|
NM_001134363.3(RBM20):c.121A>T (p.Met41Leu)
|
|
|
NM_001134363.3(RBM20):c.1221C>T (p.Pro407=)
|
|
|
NM_001134363.3(RBM20):c.1222del (p.Leu408fs)
|
rs1564844428
|
|
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs)
|
rs1564844428
|
|
NM_001134363.3(RBM20):c.1223T>C (p.Leu408Pro)
|
|
|
NM_001134363.3(RBM20):c.1225C>T (p.His409Tyr)
|
|
|
NM_001134363.3(RBM20):c.1233G>A (p.Pro411=)
|
|
|
NM_001134363.3(RBM20):c.1234C>A (p.His412Asn)
|
rs2135045176
|
|
NM_001134363.3(RBM20):c.1236T>C (p.His412=)
|
rs892831520
|
|
NM_001134363.3(RBM20):c.1239C>T (p.Ile413=)
|
rs1844356909
|
|
NM_001134363.3(RBM20):c.1242T>C (p.Cys414=)
|
rs1844356957
|
|
NM_001134363.3(RBM20):c.1245C>G (p.Ser415Arg)
|
rs1481843626
|
|
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr)
|
rs1060503412
|
|
NM_001134363.3(RBM20):c.1251T>C (p.Cys417=)
|
|
|
NM_001134363.3(RBM20):c.125A>G (p.Gln42Arg)
|
rs1861840028
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1263G>A (p.Val421=)
|
rs1844357538
|
|
NM_001134363.3(RBM20):c.1271T>C (p.Leu424Ser)
|
|
|
NM_001134363.3(RBM20):c.1275+16C>T
|
|
|
NM_001134363.3(RBM20):c.1275+17A>G
|
|
|
NM_001134363.3(RBM20):c.1275+6T>C
|
|
|
NM_001134363.3(RBM20):c.1275+9T>A
|
|
|
NM_001134363.3(RBM20):c.1276-17C>T
|
|
|
NM_001134363.3(RBM20):c.1276-3T>C
|
|
|
NM_001134363.3(RBM20):c.1277A>T (p.Asp426Val)
|
|
|
NM_001134363.3(RBM20):c.127C>T (p.Gln43Ter)
|
|
|
NM_001134363.3(RBM20):c.1280G>A (p.Trp427Ter)
|
|
|
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro)
|
|
|
NM_001134363.3(RBM20):c.1289A>G (p.His430Arg)
|
rs2135048055
|
|
NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro)
|
rs886046698
|
|
NM_001134363.3(RBM20):c.1292_1293del (p.Val431fs)
|
|
|
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del)
|
rs756342135
|
|
NM_001134363.3(RBM20):c.129GCC[6] (p.Pro48dup)
|
rs756342135
|
|
NM_001134363.3(RBM20):c.1301A>G (p.Lys434Arg)
|
|
|
NM_001134363.3(RBM20):c.1305G>A (p.Leu435=)
|
|
|
NM_001134363.3(RBM20):c.130C>A (p.Pro44Thr)
|
|
|
NM_001134363.3(RBM20):c.1314G>A (p.Gln438=)
|
rs2135048107
|
|
NM_001134363.3(RBM20):c.1316A>T (p.Lys439Ile)
|
rs2135048113
|
|
NM_001134363.3(RBM20):c.131C>G (p.Pro44Arg)
|
|
|
NM_001134363.3(RBM20):c.1323G>A (p.Leu441=)
|
|
|
NM_001134363.3(RBM20):c.1326C>T (p.Val442=)
|
rs147650685
|
|
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3])
|
rs1204097562
|
|
NM_001134363.3(RBM20):c.132_155dup (p.Pro47_Pro54dup)
|
rs1861840424
|
|
NM_001134363.3(RBM20):c.1332T>C (p.Ser444=)
|
rs2135048193
|
|
NM_001134363.3(RBM20):c.1337+18_1337+20del
|
rs2135048263
|
|
NM_001134363.3(RBM20):c.1337+5G>A
|
rs1844379788
|
|
NM_001134363.3(RBM20):c.1337+7G>T
|
rs2135048234
|
|
NM_001134363.3(RBM20):c.1337+8C>T
|
|
|
NM_001134363.3(RBM20):c.1338-12C>T
|
|
|
NM_001134363.3(RBM20):c.1338-4C>T
|
|
|
NM_001134363.3(RBM20):c.1338-9C>T
|
rs1564845243
|
|
NM_001134363.3(RBM20):c.1339G>A (p.Ala447Thr)
|
|
|
NM_001134363.3(RBM20):c.1340C>T (p.Ala447Val)
|
|
|
NM_001134363.3(RBM20):c.1345A>G (p.Ile449Val)
|
rs1564845257
|
|
NM_001134363.3(RBM20):c.134C>G (p.Pro45Arg)
|
|
|
NM_001134363.3(RBM20):c.1350G>A (p.Arg450=)
|
|
|
NM_001134363.3(RBM20):c.1351T>C (p.Cys451Arg)
|
rs2135049976
|
|
NM_001134363.3(RBM20):c.1352G>A (p.Cys451Tyr)
|
rs1844393396
|
|
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=)
|
rs745544964
|
|
NM_001134363.3(RBM20):c.1367C>T (p.Ala456Val)
|
|
|
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser)
|
rs1554886574
|
|
NM_001134363.3(RBM20):c.137C>A (p.Pro46Gln)
|
|
|
NM_001134363.3(RBM20):c.137_145dup (p.Pro48_Gln49insProProPro)
|
|
|
NM_001134363.3(RBM20):c.1385del (p.Ala462fs)
|
rs2135050138
|
|
NM_001134363.3(RBM20):c.1386T>C (p.Ala462=)
|
rs2135050149
|
|
NM_001134363.3(RBM20):c.138G>T (p.Pro46=)
|
|
|
NM_001134363.3(RBM20):c.138_149dup (p.Gln49_Pro52dup)
|
rs878854248
|
|
NM_001134363.3(RBM20):c.1400C>T (p.Thr467Ile)
|
|
|
NM_001134363.3(RBM20):c.1401del (p.Ala468fs)
|
|
|
NM_001134363.3(RBM20):c.1402G>C (p.Ala468Pro)
|
|
|
NM_001134363.3(RBM20):c.1409A>G (p.Tyr470Cys)
|
|
|
NM_001134363.3(RBM20):c.140_145dup (p.Pro48_Gln49insProPro)
|
|
|
NM_001134363.3(RBM20):c.1416T>G (p.Pro472=)
|
|
|
NM_001134363.3(RBM20):c.1417G>A (p.Ala473Thr)
|
|
|
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup)
|
rs1286990478
|
|
NM_001134363.3(RBM20):c.1422G>A (p.Gly474=)
|
|
|
NM_001134363.3(RBM20):c.1429+6C>G
|
rs2135050268
|
|
NM_001134363.3(RBM20):c.1430-19T>C
|
rs2135050904
|
|
NM_001134363.3(RBM20):c.1430-20_1430-19del
|
rs749067157
|
|
NM_001134363.3(RBM20):c.1430-9A>G
|
|
|
NM_001134363.3(RBM20):c.1444C>T (p.Leu482Phe)
|
rs752506719
|
|
NM_001134363.3(RBM20):c.1448G>A (p.Gly483Glu)
|
rs2135050974
|
|
NM_001134363.3(RBM20):c.1452A>G (p.Thr484=)
|
rs2135050991
|
|
NM_001134363.3(RBM20):c.1470A>C (p.Pro490=)
|
|
|
NM_001134363.3(RBM20):c.1470A>G (p.Pro490=)
|
|
|
NM_001134363.3(RBM20):c.1472C>T (p.Ala491Val)
|
rs1844400398
|
|
NM_001134363.3(RBM20):c.1476G>A (p.Arg492=)
|
|
|
NM_001134363.3(RBM20):c.147_164del (p.44PPPPPQ[1])
|
rs1273274801
|
|
NM_001134363.3(RBM20):c.1490C>A (p.Ser497Ter)
|
|
|
NM_001134363.3(RBM20):c.1502T>G (p.Phe501Cys)
|
|
|
NM_001134363.3(RBM20):c.1504C>G (p.Pro502Ala)
|
|
|
NM_001134363.3(RBM20):c.150A>C (p.Pro50=)
|
rs376936285
|
|
NM_001134363.3(RBM20):c.150A>G (p.Pro50=)
|
rs376936285
|
|
NM_001134363.3(RBM20):c.1511C>T (p.Ala504Val)
|
rs878854249
|
|
NM_001134363.3(RBM20):c.151C>T (p.Pro51Ser)
|
rs1861841530
|
|
NM_001134363.3(RBM20):c.1521G>T (p.Gly507=)
|
|
|
NM_001134363.3(RBM20):c.1525A>G (p.Thr509Ala)
|
rs1844401481
|
|
NM_001134363.3(RBM20):c.1526C>G (p.Thr509Ser)
|
|
|
NM_001134363.3(RBM20):c.1527+15A>G
|
|
|
NM_001134363.3(RBM20):c.1527+19T>C
|
|
|
NM_001134363.3(RBM20):c.1527+9G>A
|
rs1057521554
|
|
NM_001134363.3(RBM20):c.1528-12del
|
|
|
NM_001134363.3(RBM20):c.1528-13T>C
|
|
|
NM_001134363.3(RBM20):c.1528-17A>T
|
|
|
NM_001134363.3(RBM20):c.1528-1G>C
|
rs534513476
|
|
NM_001134363.3(RBM20):c.1528-4T>A
|
rs1844564958
|
|
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup)
|
rs1554886580
|
|
NM_001134363.3(RBM20):c.1531G>T (p.Ala511Ser)
|
|
|
NM_001134363.3(RBM20):c.1537C>T (p.Arg513Trp)
|
|
|
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg)
|
rs1235212712
|
|
NM_001134363.3(RBM20):c.1548T>C (p.Ala516=)
|
rs2135073651
|
|
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr)
|
rs2134793204
|
|
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met)
|
rs1844567016
|
|
NM_001134363.3(RBM20):c.155C>T (p.Pro52Leu)
|
|
|
NM_001134363.3(RBM20):c.1571A>G (p.Asn524Ser)
|
|
|
NM_001134363.3(RBM20):c.1590C>A (p.Cys530Ter)
|
rs2135073795
|
|
NM_001134363.3(RBM20):c.1596G>A (p.Glu532=)
|
|
|
NM_001134363.3(RBM20):c.1596G>T (p.Glu532Asp)
|
|
|
NM_001134363.3(RBM20):c.1598A>G (p.Asn533Ser)
|
rs1309738508
|
|
NM_001134363.3(RBM20):c.15A>T (p.Ala5=)
|
rs1267175101
|
|
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu)
|
|
|
NM_001134363.3(RBM20):c.160C>G (p.Pro54Ala)
|
rs1861841938
|
|
NM_001134363.3(RBM20):c.1610A>G (p.Asn537Ser)
|
|
|
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=)
|
rs876657569
|
|
NM_001134363.3(RBM20):c.162C>T (p.Pro54=)
|
|
|
NM_001134363.3(RBM20):c.1632G>A (p.Lys544=)
|
|
|
NM_001134363.3(RBM20):c.1632G>T (p.Lys544Asn)
|
|
|
NM_001134363.3(RBM20):c.1643A>G (p.Tyr548Cys)
|
rs1844568332
|
|
NM_001134363.3(RBM20):c.1644C>T (p.Tyr548=)
|
|
|
NM_001134363.3(RBM20):c.1653G>A (p.Met551Ile)
|
rs1844568460
|
|
NM_001134363.3(RBM20):c.1659G>T (p.Ser553=)
|
|
|
NM_001134363.3(RBM20):c.1668+19A>G
|
|
|
NM_001134363.3(RBM20):c.1668+7C>G
|
|
|
NM_001134363.3(RBM20):c.1668+8T>G
|
rs755752098
|
|
NM_001134363.3(RBM20):c.1669-13del
|
|
|
NM_001134363.3(RBM20):c.1669-14C>T
|
rs1355193222
|
|
NM_001134363.3(RBM20):c.1669-16T>C
|
|
|
NM_001134363.3(RBM20):c.1669-16T>G
|
|
|
NM_001134363.3(RBM20):c.1669-17C>A
|
|
|
NM_001134363.3(RBM20):c.1669-3T>G
|
|
|
NM_001134363.3(RBM20):c.1669-6_1669-3del
|
rs903324770
|
|
NM_001134363.3(RBM20):c.1669G>A (p.Ala557Thr)
|
|
|
NM_001134363.3(RBM20):c.1670C>A (p.Ala557Asp)
|
rs1554901109
|
|
NM_001134363.3(RBM20):c.1677A>G (p.Leu559=)
|
rs2135078497
|
|
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr)
|
rs999297099
|
|
NM_001134363.3(RBM20):c.1689C>T (p.Tyr563=)
|
|
|
NM_001134363.3(RBM20):c.1691C>T (p.Thr564Ile)
|
rs1844598194
|
|
NM_001134363.3(RBM20):c.1695A>G (p.Glu565=)
|
|
|
NM_001134363.3(RBM20):c.1699G>A (p.Ala567Thr)
|
rs1844598396
|
|
NM_001134363.3(RBM20):c.170G>A (p.Gly57Asp)
|
|
|
NM_001134363.3(RBM20):c.1711G>T (p.Val571Phe)
|
|
|
NM_001134363.3(RBM20):c.1723C>T (p.Gln575Ter)
|
|
|
NM_001134363.3(RBM20):c.1727A>G (p.Glu576Gly)
|
|
|
NM_001134363.3(RBM20):c.1728A>C (p.Glu576Asp)
|
|
|
NM_001134363.3(RBM20):c.1728A>G (p.Glu576=)
|
|
|
NM_001134363.3(RBM20):c.1731A>G (p.Lys577=)
|
|
|
NM_001134363.3(RBM20):c.1733C>G (p.Ser578Cys)
|
rs1844599391
|
|
NM_001134363.3(RBM20):c.1735G>T (p.Ala579Ser)
|
|
|
NM_001134363.3(RBM20):c.1740G>C (p.Val580=)
|
|
|
NM_001134363.3(RBM20):c.1745A>G (p.Asn582Ser)
|
rs890837429
|
|
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile)
|
|
|
NM_001134363.3(RBM20):c.1749T>C (p.Gly583=)
|
rs1298796345
|
|
NM_001134363.3(RBM20):c.174A>G (p.Leu58=)
|
|
|
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln)
|
rs368716639
|
|
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys)
|
rs794729147
|
|
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg)
|
rs794729147
|
|
NM_001134363.3(RBM20):c.1775A>G (p.Lys592Arg)
|
rs1844600546
|
|
NM_001134363.3(RBM20):c.1782C>T (p.Tyr594=)
|
|
|
NM_001134363.3(RBM20):c.1787A>C (p.Glu596Ala)
|
rs1554901133
|
|
NM_001134363.3(RBM20):c.1792C>T (p.Gln598Ter)
|
|
|
NM_001134363.3(RBM20):c.1800+15T>C
|
|
|
NM_001134363.3(RBM20):c.1800+1G>A
|
rs1060503414
|
|
NM_001134363.3(RBM20):c.1800+4A>G
|
rs1564850178
|
|
NM_001134363.3(RBM20):c.1800+7C>T
|
|
|
NM_001134363.3(RBM20):c.1800+8A>G
|
rs2135079032
|
|
NM_001134363.3(RBM20):c.1801-15C>G
|
|
|
NM_001134363.3(RBM20):c.1805C>A (p.Pro602His)
|
|
|
NM_001134363.3(RBM20):c.1809G>A (p.Gly603=)
|
rs2135099769
|
|
NM_001134363.3(RBM20):c.1813G>A (p.Ala605Thr)
|
rs1342793239
|
|
NM_001134363.3(RBM20):c.1815C>G (p.Ala605=)
|
|
|
NM_001134363.3(RBM20):c.181A>G (p.Ile61Val)
|
|
|
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val)
|
rs1844749476
|
|
NM_001134363.3(RBM20):c.1825A>G (p.Ile609Val)
|
|
|
NM_001134363.3(RBM20):c.1833G>A (p.Gln611=)
|
rs1361347193
|
|
NM_001134363.3(RBM20):c.1834G>A (p.Asp612Asn)
|
|
|
NM_001134363.3(RBM20):c.1839C>T (p.Ile613=)
|
|
|
NM_001134363.3(RBM20):c.183C>T (p.Ile61=)
|
|
|
NM_001134363.3(RBM20):c.184A>G (p.Ile62Val)
|
|
|
NM_001134363.3(RBM20):c.1850G>A (p.Arg617Lys)
|
rs1844749902
|
|
NM_001134363.3(RBM20):c.1851G>C (p.Arg617Ser)
|
rs1844749960
|
|
NM_001134363.3(RBM20):c.1855A>T (p.Arg619Trp)
|
|
|
NM_001134363.3(RBM20):c.1857G>T (p.Arg619Ser)
|
rs1844750147
|
|
NM_001134363.3(RBM20):c.1878C>T (p.Asp626=)
|
|
|
NM_001134363.3(RBM20):c.1879A>G (p.Arg627Gly)
|
|
|
NM_001134363.3(RBM20):c.1880+11A>G
|
|
|
NM_001134363.3(RBM20):c.1880+14_1880+20del
|
|
|
NM_001134363.3(RBM20):c.1880+16C>T
|
rs1249605174
|
|
NM_001134363.3(RBM20):c.1880+19A>C
|
rs1350808746
|
|
NM_001134363.3(RBM20):c.1880+4_1880+6dup
|
rs397516597
|
|
NM_001134363.3(RBM20):c.1880+7C>T
|
rs2135100046
|
|
NM_001134363.3(RBM20):c.1880+9C>T
|
rs1590694368
|
|
NM_001134363.3(RBM20):c.1881-12G>T
|
|
|
NM_001134363.3(RBM20):c.1881-15T>C
|
|
|
NM_001134363.3(RBM20):c.1881-16C>T
|
|
|
NM_001134363.3(RBM20):c.1881-5C>T
|
|
|
NM_001134363.3(RBM20):c.1881-7C>T
|
rs1590695581
|
|
NM_001134363.3(RBM20):c.1881-9C>T
|
|
|
NM_001134363.3(RBM20):c.1883A>G (p.Tyr628Cys)
|
rs2135103547
|
|
NM_001134363.3(RBM20):c.1884T>C (p.Tyr628=)
|
|
|
NM_001134363.3(RBM20):c.1886G>T (p.Gly629Val)
|
rs1844777305
|
|
NM_001134363.3(RBM20):c.188A>G (p.Gln63Arg)
|
rs1564804235
|
|
NM_001134363.3(RBM20):c.1900C>A (p.Arg634=)
|
rs796734066
|
|
NM_001134363.3(RBM20):c.1900C>G (p.Arg634Gly)
|
|
|
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp)
|
rs796734066
|
|
NM_001134363.3(RBM20):c.1903T>C (p.Ser635Pro)
|
rs1844777857
|
|
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr)
|
rs1114167331
|
|
NM_001134363.3(RBM20):c.1904C>T (p.Ser635Phe)
|
|
|
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)
|
rs267607002
|
|
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)
|
|
|
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly)
|
rs267607005
|
|
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del)
|
rs794729163
|
|
NM_001134363.3(RBM20):c.191+6_191+8del
|
|
|
NM_001134363.3(RBM20):c.191+7A>C
|
rs2134793391
|
|
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn)
|
rs794729149
|
|
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg)
|
|
|
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met)
|
rs1844778442
|
|
NM_001134363.3(RBM20):c.191del (p.Asn64fs)
|
|
|
NM_001134363.3(RBM20):c.192-3C>T
|
|
|
NM_001134363.3(RBM20):c.1920C>T (p.Ser640=)
|
rs1439106449
|
|
NM_001134363.3(RBM20):c.1940C>T (p.Ser647Phe)
|
|
|
NM_001134363.3(RBM20):c.1941C>G (p.Ser647=)
|
|
|
NM_001134363.3(RBM20):c.1944C>A (p.His648Gln)
|
rs1844779098
|
|
NM_001134363.3(RBM20):c.1946C>T (p.Thr649Ile)
|
|
|
NM_001134363.3(RBM20):c.1948C>T (p.Pro650Ser)
|
|
|
NM_001134363.3(RBM20):c.194C>G (p.Ala65Gly)
|
rs1255136385
|
|
NM_001134363.3(RBM20):c.194C>T (p.Ala65Val)
|
|
|
NM_001134363.3(RBM20):c.1959C>T (p.Thr653=)
|
|
|
NM_001134363.3(RBM20):c.195C>T (p.Ala65=)
|
|
|
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=)
|
rs1554842673
|
|
NM_001134363.3(RBM20):c.1969_1970delinsAT (p.Ser657Ile)
|
|
|
NM_001134363.3(RBM20):c.1984C>G (p.Pro662Ala)
|
|
|
NM_001134363.3(RBM20):c.1985C>T (p.Pro662Leu)
|
|
|
NM_001134363.3(RBM20):c.1990_2000del (p.Gly663_Pro664insTer)
|
rs2135103989
|
|
NM_001134363.3(RBM20):c.1992C>A (p.Pro664=)
|
|
|
NM_001134363.3(RBM20):c.1994C>G (p.Ser665Cys)
|
|
|
NM_001134363.3(RBM20):c.1994C>T (p.Ser665Phe)
|
|
|
NM_001134363.3(RBM20):c.1995C>T (p.Ser665=)
|
|
|
NM_001134363.3(RBM20):c.1997G>A (p.Arg666Gln)
|
|
|
NM_001134363.3(RBM20):c.1999G>A (p.Ala667Thr)
|
|
|
NM_001134363.3(RBM20):c.2002G>A (p.Asp668Asn)
|
|
|
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu)
|
rs749563704
|
|
NM_001134363.3(RBM20):c.2009G>A (p.Gly670Asp)
|
rs2135104151
|
|
NM_001134363.3(RBM20):c.2017C>A (p.Arg673=)
|
|
|
NM_001134363.3(RBM20):c.2019G>T (p.Arg673=)
|
rs1844781108
|
|
NM_001134363.3(RBM20):c.201G>A (p.Lys67=)
|
rs752370319
|
|
NM_001134363.3(RBM20):c.2024C>T (p.Ser675Phe)
|
rs1844781292
|
|
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His)
|
rs1257262328
|
|
NM_001134363.3(RBM20):c.2042del (p.Tyr681fs)
|
|
|
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter)
|
rs376380567
|
|
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly)
|
|
|
NM_001134363.3(RBM20):c.2046C>T (p.Ala682=)
|
rs758501891
|
|
NM_001134363.3(RBM20):c.2047A>G (p.Arg683Gly)
|
|
|
NM_001134363.3(RBM20):c.2051G>A (p.Arg684Lys)
|
|
|
NM_001134363.3(RBM20):c.2060del (p.Glu687fs)
|
|
|
NM_001134363.3(RBM20):c.2061G>A (p.Glu687=)
|
rs2135104380
|
|
NM_001134363.3(RBM20):c.2065G>A (p.Asp689Asn)
|
rs1590695932
|
|
NM_001134363.3(RBM20):c.2067C>A (p.Asp689Glu)
|
|
|
NM_001134363.3(RBM20):c.2071G>T (p.Ala691Ser)
|
rs1844782261
|
|
NM_001134363.3(RBM20):c.2084A>G (p.Asp695Gly)
|
rs1036736581
|
|
NM_001134363.3(RBM20):c.2086A>G (p.Asn696Asp)
|
rs1338107542
|
|
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser)
|
rs1844782473
|
|
NM_001134363.3(RBM20):c.2088C>T (p.Asn696=)
|
|
|
NM_001134363.3(RBM20):c.2097C>T (p.Asp699=)
|
|
|
NM_001134363.3(RBM20):c.20T>G (p.Met7Arg)
|
|
|
NM_001134363.3(RBM20):c.2100G>A (p.Lys700=)
|
|
|
NM_001134363.3(RBM20):c.2106C>G (p.Asp702Glu)
|
|
|
NM_001134363.3(RBM20):c.2109G>C (p.Arg703Ser)
|
rs988797559
|
|
NM_001134363.3(RBM20):c.2109G>T (p.Arg703Ser)
|
|
|
NM_001134363.3(RBM20):c.2113G>A (p.Asp705Asn)
|
rs995493100
|
|
NM_001134363.3(RBM20):c.2118C>T (p.Pro706=)
|
rs1590696006
|
|
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg)
|
rs1554842725
|
|
NM_001134363.3(RBM20):c.2119T>C (p.Trp707Arg)
|
|
|
NM_001134363.3(RBM20):c.2126A>G (p.His709Arg)
|
|
|
NM_001134363.3(RBM20):c.2131C>G (p.Arg711Gly)
|
rs750763255
|
|
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His)
|
rs1448017649
|
|
NM_001134363.3(RBM20):c.2132G>C (p.Arg711Pro)
|
rs1448017649
|
|
NM_001134363.3(RBM20):c.2140C>T (p.His714Tyr)
|
rs1844784087
|
|
NM_001134363.3(RBM20):c.2142C>A (p.His714Gln)
|
|
|
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile)
|
rs1372553161
|
|
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr)
|
rs876657976
|
|
NM_001134363.3(RBM20):c.2166G>A (p.Glu722=)
|
|
|
NM_001134363.3(RBM20):c.2176C>G (p.Arg726Gly)
|
|
|
NM_001134363.3(RBM20):c.2177G>A (p.Arg726Gln)
|
rs756116415
|
|
NM_001134363.3(RBM20):c.2182G>A (p.Glu728Lys)
|
|
|
NM_001134363.3(RBM20):c.2182G>T (p.Glu728Ter)
|
rs1844785287
|
|
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del)
|
rs876657977
|
|
NM_001134363.3(RBM20):c.2188G>A (p.Gly730Arg)
|
|
|
NM_001134363.3(RBM20):c.2188G>C (p.Gly730Arg)
|
rs1844785438
|
|
NM_001134363.3(RBM20):c.2189G>A (p.Gly730Glu)
|
|
|
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=)
|
rs1554842740
|
|
NM_001134363.3(RBM20):c.2199C>T (p.His733=)
|
|
|
NM_001134363.3(RBM20):c.2201G>C (p.Arg734Pro)
|
rs372923744
|
|
NM_001134363.3(RBM20):c.2207A>C (p.Lys736Thr)
|
|
|
NM_001134363.3(RBM20):c.2208G>A (p.Lys736=)
|
|
|
NM_001134363.3(RBM20):c.2213C>G (p.Pro738Arg)
|
rs397516601
|
|
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu)
|
rs397516601
|
|
NM_001134363.3(RBM20):c.2214G>T (p.Pro738=)
|
rs1057523887
|
|
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe)
|
rs730880183
|
|
NM_001134363.3(RBM20):c.2223G>T (p.Gly741=)
|
rs2135105127
|
|
NM_001134363.3(RBM20):c.2229C>A (p.Pro743=)
|
rs1060504912
|
|
NM_001134363.3(RBM20):c.2229C>G (p.Pro743=)
|
rs1060504912
|
|
NM_001134363.3(RBM20):c.2241C>T (p.His747=)
|
rs2135105227
|
|
NM_001134363.3(RBM20):c.2242T>C (p.Ser748Pro)
|
rs2135105234
|
|
NM_001134363.3(RBM20):c.225G>A (p.Ser75=)
|
rs1170141703
|
|
NM_001134363.3(RBM20):c.2280_2282dup (p.Arg761dup)
|
rs1844787460
|
|
NM_001134363.3(RBM20):c.2283G>T (p.Arg761=)
|
|
|
NM_001134363.3(RBM20):c.2284A>G (p.Lys762Glu)
|
|
|
NM_001134363.3(RBM20):c.2286A>G (p.Lys762=)
|
rs2135105422
|
|
NM_001134363.3(RBM20):c.2288A>G (p.Glu763Gly)
|
|
|
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His)
|
rs1036485472
|
|
NM_001134363.3(RBM20):c.2294A>C (p.Lys765Thr)
|
rs1395161859
|
|
NM_001134363.3(RBM20):c.2303= (p.Ser768=)
|
rs1417635
|
|
NM_001134363.3(RBM20):c.2303C>A (p.Ser768Ter)
|
rs1417635
|
|
NM_001134363.3(RBM20):c.2303C>G (p.Ser768Trp)
|
rs1417635
|
|
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu)
|
rs1417635
|
|
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly)
|
|
|
NM_001134363.3(RBM20):c.2307C>T (p.Asp769=)
|
rs1201765706
|
|
NM_001134363.3(RBM20):c.2309A>G (p.Lys770Arg)
|
rs1244728107
|
|
NM_001134363.3(RBM20):c.2310G>A (p.Lys770=)
|
rs2135105608
|
|
NM_001134363.3(RBM20):c.2312A>G (p.Tyr771Cys)
|
rs2135105617
|
|
NM_001134363.3(RBM20):c.2315T>C (p.Leu772Pro)
|
|
|
NM_001134363.3(RBM20):c.2320CAG[2] (p.Gln776del)
|
|
|
NM_001134363.3(RBM20):c.2331T>G (p.Asp777Glu)
|
rs1428730678
|
|
NM_001134363.3(RBM20):c.2336C>T (p.Pro779Leu)
|
|
|
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp)
|
rs750988872
|
|
NM_001134363.3(RBM20):c.2343del (p.Arg781fs)
|
rs1443137430
|
|
NM_001134363.3(RBM20):c.2346C>G (p.Ser782=)
|
rs894709573
|
|
NM_001134363.3(RBM20):c.2346C>T (p.Ser782=)
|
|
|
NM_001134363.3(RBM20):c.2350_2351delinsGT (p.Arg784Val)
|
rs1844789808
|
|
NM_001134363.3(RBM20):c.2358C>A (p.Asp786Glu)
|
rs1045844360
|
|
NM_001134363.3(RBM20):c.2360A>G (p.Glu787Gly)
|
rs1844790155
|
|
NM_001134363.3(RBM20):c.2361G>C (p.Glu787Asp)
|
|
|
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser)
|
rs765544509
|
|
NM_001134363.3(RBM20):c.2367G>A (p.Arg789=)
|
|
|
NM_001134363.3(RBM20):c.2368C>T (p.Leu790=)
|
|
|
NM_001134363.3(RBM20):c.2370G>A (p.Leu790=)
|
|
|
NM_001134363.3(RBM20):c.2371C>G (p.Arg791Gly)
|
rs529403382
|
|
NM_001134363.3(RBM20):c.2372G>A (p.Arg791Gln)
|
|
|
NM_001134363.3(RBM20):c.2374G>A (p.Glu792Lys)
|
rs2135105925
|
|
NM_001134363.3(RBM20):c.2374dup (p.Glu792fs)
|
|
|
NM_001134363.3(RBM20):c.2378G>A (p.Ser793Asn)
|
|
|
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs)
|
rs1554898759
|
|
NM_001134363.3(RBM20):c.2381G>A (p.Arg794Lys)
|
|
|
NM_001134363.3(RBM20):c.2382A>G (p.Arg794=)
|
rs999008497
|
|
NM_001134363.3(RBM20):c.2383C>A (p.His795Asn)
|
rs2135105962
|
|
NM_001134363.3(RBM20):c.2385C>A (p.His795Gln)
|
rs781166982
|
|
NM_001134363.3(RBM20):c.2385C>T (p.His795=)
|
rs781166982
|
|
NM_001134363.3(RBM20):c.2388_2393dup (p.795_796HP[3])
|
rs1564661327
|
|
NM_001134363.3(RBM20):c.2389C>A (p.His797Asn)
|
|
|
NM_001134363.3(RBM20):c.2396A>G (p.Asp799Gly)
|
|
|
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn)
|
|
|
NM_001134363.3(RBM20):c.2414A>T (p.Asp805Val)
|
rs2135106050
|
|
NM_001134363.3(RBM20):c.2416G>A (p.Gly806Arg)
|
|
|
NM_001134363.3(RBM20):c.2418G>T (p.Gly806=)
|
rs2135106059
|
|
NM_001134363.3(RBM20):c.2422G>T (p.Gly808Trp)
|
rs1844791428
|
|
NM_001134363.3(RBM20):c.2427A>G (p.Pro809=)
|
|
|
NM_001134363.3(RBM20):c.2434A>C (p.Thr812Pro)
|
rs1564661367
|
|
NM_001134363.3(RBM20):c.2434A>T (p.Thr812Ser)
|
rs1564661367
|
|
NM_001134363.3(RBM20):c.2435C>T (p.Thr812Ile)
|
|
|
NM_001134363.3(RBM20):c.2436_2442del (p.Arg813fs)
|
rs1554842805
|
|
NM_001134363.3(RBM20):c.2437A>G (p.Arg813Gly)
|
rs2135106132
|
|
NM_001134363.3(RBM20):c.2443_2454del (p.Pro815_Ala818del)
|
rs2135106138
|
|
NM_001134363.3(RBM20):c.2448G>A (p.Glu816=)
|
|
|
NM_001134363.3(RBM20):c.244C>T (p.Leu82=)
|
|
|
NM_001134363.3(RBM20):c.2452G>A (p.Ala818Thr)
|
|
|
NM_001134363.3(RBM20):c.2453C>A (p.Ala818Asp)
|
|
|
NM_001134363.3(RBM20):c.2462A>G (p.Lys821Arg)
|
|
|
NM_001134363.3(RBM20):c.2466G>A (p.Gln822=)
|
|
|
NM_001134363.3(RBM20):c.2477A>G (p.Asn826Ser)
|
rs773581304
|
|
NM_001134363.3(RBM20):c.2493T>C (p.Thr831=)
|
rs2135106282
|
|
NM_001134363.3(RBM20):c.2496T>C (p.Asp832=)
|
|
|
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His)
|
|
|
NM_001134363.3(RBM20):c.2501A>G (p.Asp834Gly)
|
|
|
NM_001134363.3(RBM20):c.2502C>T (p.Asp834=)
|
rs1695186546
|
|
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del)
|
rs1554842819
|
|
NM_001134363.3(RBM20):c.2518del (p.Asp840fs)
|
rs2135106385
|
|
NM_001134363.3(RBM20):c.2520T>C (p.Asp840=)
|
|
|
NM_001134363.3(RBM20):c.2521del (p.Arg841fs)
|
rs1590696621
|
|
NM_001134363.3(RBM20):c.2528A>G (p.Glu843Gly)
|
rs1844794265
|
|
NM_001134363.3(RBM20):c.2532C>T (p.Asn844=)
|
|
|
NM_001134363.3(RBM20):c.2535A>G (p.Thr845=)
|
|
|
NM_001134363.3(RBM20):c.2539G>A (p.Ala847Thr)
|
rs1844794627
|
|
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val)
|
rs1844794673
|
|
NM_001134363.3(RBM20):c.2545A>C (p.Asn849His)
|
|
|
NM_001134363.3(RBM20):c.2550+10A>G
|
rs2135106504
|
|
NM_001134363.3(RBM20):c.2550+19C>G
|
|
|
NM_001134363.3(RBM20):c.2550+1G>A
|
rs1844794840
|
|
NM_001134363.3(RBM20):c.2550+4A>G
|
|
|
NM_001134363.3(RBM20):c.2550+7A>G
|
rs1554842826
|
|
NM_001134363.3(RBM20):c.2551-13T>C
|
rs2135118564
|
|
NM_001134363.3(RBM20):c.2551-14C>A
|
|
|
NM_001134363.3(RBM20):c.2551-16T>A
|
|
|
NM_001134363.3(RBM20):c.2551-17G>A
|
rs2135118541
|
|
NM_001134363.3(RBM20):c.2551-3A>G
|
|
|
NM_001134363.3(RBM20):c.2551-4T>C
|
|
|
NM_001134363.3(RBM20):c.2564A>T (p.Glu855Val)
|
|
|
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del)
|
rs397516603
|
|
NM_001134363.3(RBM20):c.2566C>G (p.Gln856Glu)
|
|
|
NM_001134363.3(RBM20):c.2566C>T (p.Gln856Ter)
|
|
|
NM_001134363.3(RBM20):c.2574C>T (p.Gly858=)
|
|
|
NM_001134363.3(RBM20):c.2575A>G (p.Met859Val)
|
rs1844888587
|
|
NM_001134363.3(RBM20):c.2577G>A (p.Met859Ile)
|
|
|
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu)
|
|
|
NM_001134363.3(RBM20):c.2587C>T (p.Pro863Ser)
|
rs367791037
|
|
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg)
|
rs794729153
|
|
NM_001134363.3(RBM20):c.258T>G (p.Pro86=)
|
|
|
NM_001134363.3(RBM20):c.2591A>G (p.Gln864Arg)
|
|
|
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter)
|
rs1861836936
|
|
NM_001134363.3(RBM20):c.2600del (p.Gly867fs)
|
|
|
NM_001134363.3(RBM20):c.2603G>T (p.Arg868Ile)
|
rs1236252537
|
|
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter)
|
rs1564663888
|
|
NM_001134363.3(RBM20):c.260C>T (p.Ala87Val)
|
|
|
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del)
|
rs1236064535
|
|
NM_001134363.3(RBM20):c.2627C>A (p.Ser876Tyr)
|
|
|
NM_001134363.3(RBM20):c.262A>G (p.Ser88Gly)
|
rs1844329109
|
|
NM_001134363.3(RBM20):c.2632C>T (p.Pro878Ser)
|
|
|
NM_001134363.3(RBM20):c.2655+18T>C
|
|
|
NM_001134363.3(RBM20):c.2655+19T>G
|
|
|
NM_001134363.3(RBM20):c.2655+6G>C
|
|
|
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter)
|
|
|
NM_001134363.3(RBM20):c.2672G>A (p.Ser891Asn)
|
|
|
NM_001134363.3(RBM20):c.2675A>T (p.Glu892Val)
|
|
|
NM_001134363.3(RBM20):c.2678G>A (p.Ser893Asn)
|
rs1336475076
|
|
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg)
|
rs982286757
|
|
NM_001134363.3(RBM20):c.2692G>C (p.Glu898Gln)
|
|
|
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp)
|
|
|
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr)
|
|
|
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys)
|
rs1564664312
|
|
NM_001134363.3(RBM20):c.2714T>G (p.Met905Arg)
|
rs1564664312
|
|
NM_001134363.3(RBM20):c.2716G>A (p.Glu906Lys)
|
rs1554843516
|
|
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys)
|
rs1564664325
|
|
NM_001134363.3(RBM20):c.2720A>C (p.Glu907Ala)
|
rs1554843517
|
|
NM_001134363.3(RBM20):c.2720_2725del (p.Glu907_Leu908del)
|
rs2135120852
|
|
NM_001134363.3(RBM20):c.2721G>C (p.Glu907Asp)
|
|
|
NM_001134363.3(RBM20):c.2726T>A (p.Val909Glu)
|
|
|
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro)
|
rs397516606
|
|
NM_001134363.3(RBM20):c.2730A>G (p.Thr910=)
|
|
|
NM_001134363.3(RBM20):c.2730_2731inv (p.Val911Leu)
|
|
|
NM_001134363.3(RBM20):c.2732T>C (p.Val911Ala)
|
rs1590701525
|
|
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys)
|
rs397516607
|
|
NM_001134363.3(RBM20):c.2738A>T (p.Glu913Val)
|
|
|
NM_001134363.3(RBM20):c.2740G>T (p.Val914Phe)
|
|
|
NM_001134363.3(RBM20):c.2741T>A (p.Val914Asp)
|
rs794729154
|
|
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala)
|
rs794729154
|
|
NM_001134363.3(RBM20):c.2745G>A (p.Gly915=)
|
rs2135120951
|
|
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys)
|
rs727504859
|
|
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del)
|
rs765389992
|
|
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys)
|
rs1844907124
|
|
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln)
|
rs1844907124
|
|
NM_001134363.3(RBM20):c.2754A>C (p.Glu918Asp)
|
|
|
NM_001134363.3(RBM20):c.2758T>G (p.Phe920Val)
|
|
|
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe)
|
rs397516608
|
|
NM_001134363.3(RBM20):c.2763C>T (p.Ile921=)
|
rs587781137
|
|
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu)
|
rs947100716
|
|
NM_001134363.3(RBM20):c.277C>T (p.Gln93Ter)
|
|
|
NM_001134363.3(RBM20):c.2781A>T (p.Pro927=)
|
|
|
NM_001134363.3(RBM20):c.2787G>A (p.Leu929=)
|
|
|
NM_001134363.3(RBM20):c.2799G>A (p.Val933=)
|
|
|
NM_001134363.3(RBM20):c.2802del (p.Ile935fs)
|
rs2135121046
|
|
NM_001134363.3(RBM20):c.2807A>G (p.Asp936Gly)
|
rs1225927754
|
|
NM_001134363.3(RBM20):c.2817C>G (p.Asp939Glu)
|
|
|
NM_001134363.3(RBM20):c.2817C>T (p.Asp939=)
|
rs1225833082
|
|
NM_001134363.3(RBM20):c.2819A>G (p.Lys940Arg)
|
rs886046705
|
|
NM_001134363.3(RBM20):c.2833A>T (p.Thr945Ser)
|
rs2135121107
|
|
NM_001134363.3(RBM20):c.2839C>T (p.Leu947=)
|
|
|
NM_001134363.3(RBM20):c.2840T>C (p.Leu947Pro)
|
|
|
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=)
|
rs727503389
|
|
NM_001134363.3(RBM20):c.2845G>T (p.Val949Leu)
|
rs1844908453
|
|
NM_001134363.3(RBM20):c.2849C>G (p.Thr950Arg)
|
|
|
NM_001134363.3(RBM20):c.2853C>T (p.Thr951=)
|
rs1844908621
|
|
NM_001134363.3(RBM20):c.2866G>C (p.Asp956His)
|
|
|
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu)
|
rs1554843535
|
|
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg)
|
rs2135121307
|
|
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu)
|
rs369747752
|
|
NM_001134363.3(RBM20):c.2917G>T (p.Ala973Ser)
|
|
|
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr)
|
|
|
NM_001134363.3(RBM20):c.2930G>A (p.Ser977Asn)
|
rs1844910126
|
|
NM_001134363.3(RBM20):c.2936A>G (p.Lys979Arg)
|
rs1844910226
|
|
NM_001134363.3(RBM20):c.2938T>C (p.Ser980Pro)
|
|
|
NM_001134363.3(RBM20):c.2950C>T (p.Leu984=)
|
|
|
NM_001134363.3(RBM20):c.2961T>C (p.Ala987=)
|
|
|
NM_001134363.3(RBM20):c.2961T>G (p.Ala987=)
|
|
|
NM_001134363.3(RBM20):c.2970C>T (p.Ser990=)
|
|
|
NM_001134363.3(RBM20):c.2971T>C (p.Cys991Arg)
|
rs2135121541
|
|
NM_001134363.3(RBM20):c.2973T>C (p.Cys991=)
|
|
|
NM_001134363.3(RBM20):c.2975C>G (p.Pro992Arg)
|
rs1844911019
|
|
NM_001134363.3(RBM20):c.2981A>T (p.Asp994Val)
|
|
|
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr)
|
|
|
NM_001134363.3(RBM20):c.2988C>A (p.Asp996Glu)
|
rs1249673177
|
|
NM_001134363.3(RBM20):c.2988C>T (p.Asp996=)
|
rs1249673177
|
|
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met)
|
rs372370653
|
|
NM_001134363.3(RBM20):c.2989G>T (p.Val997Leu)
|
rs372370653
|
|
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe)
|
rs1590673852
|
|
NM_001134363.3(RBM20):c.2990T>C (p.Val997Ala)
|
|
|
NM_001134363.3(RBM20):c.3000T>C (p.Pro1000=)
|
rs1057522142
|
|
NM_001134363.3(RBM20):c.3003C>G (p.Gly1001=)
|
rs1590701744
|
|
NM_001134363.3(RBM20):c.3011T>G (p.Leu1004Arg)
|
|
|
NM_001134363.3(RBM20):c.3014A>G (p.Asp1005Gly)
|
|
|
NM_001134363.3(RBM20):c.3019G>A (p.Glu1007Lys)
|
|
|
NM_001134363.3(RBM20):c.3047G>A (p.Gly1016Asp)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala)
|
rs540014314
|
|
NM_001134363.3(RBM20):c.3053C>T (p.Ser1018Phe)
|
rs2135121918
|
|
NM_001134363.3(RBM20):c.3053_3056del (p.Ser1018fs)
|
rs770955344
|
|
NM_001134363.3(RBM20):c.3056T>C (p.Leu1019Pro)
|
|
|
NM_001134363.3(RBM20):c.3056T>G (p.Leu1019Arg)
|
|
|
NM_001134363.3(RBM20):c.3060G>A (p.Glu1020=)
|
|
|
NM_001134363.3(RBM20):c.3071G>C (p.Cys1024Ser)
|
|
|
NM_001134363.3(RBM20):c.3084G>A (p.Glu1028=)
|
rs1057524093
|
|
NM_001134363.3(RBM20):c.3087A>G (p.Ala1029=)
|
|
|
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter)
|
rs794729157
|
|
NM_001134363.3(RBM20):c.3098A>G (p.Glu1033Gly)
|
rs1844914032
|
|
NM_001134363.3(RBM20):c.309G>A (p.Leu103=)
|
|
|
NM_001134363.3(RBM20):c.3105A>G (p.Ser1035=)
|
|
|
NM_001134363.3(RBM20):c.3112C>A (p.His1038Asn)
|
rs891835279
|
|
NM_001134363.3(RBM20):c.3116C>T (p.Pro1039Leu)
|
rs2135122079
|
|
NM_001134363.3(RBM20):c.3122C>G (p.Pro1041Arg)
|
|
|
NM_001134363.3(RBM20):c.3123T>C (p.Pro1041=)
|
rs2135122095
|
|
NM_001134363.3(RBM20):c.3124A>G (p.Thr1042Ala)
|
rs1844914479
|
|
NM_001134363.3(RBM20):c.3126A>G (p.Thr1042=)
|
|
|
NM_001134363.3(RBM20):c.3128T>C (p.Val1043Ala)
|
rs2135122123
|
|
NM_001134363.3(RBM20):c.3132G>A (p.Gln1044=)
|
|
|
NM_001134363.3(RBM20):c.3134A>G (p.Gln1045Arg)
|
rs2135122152
|
|
NM_001134363.3(RBM20):c.3137T>G (p.Met1046Arg)
|
|
|
NM_001134363.3(RBM20):c.3145C>T (p.Pro1049Ser)
|
|
|
NM_001134363.3(RBM20):c.3146del (p.Pro1049fs)
|
|
|
NM_001134363.3(RBM20):c.3147del (p.Lys1050fs)
|
rs1844915022
|
|
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val)
|
rs1276115385
|
|
NM_001134363.3(RBM20):c.3156A>G (p.Ala1052=)
|
rs2135122217
|
|
NM_001134363.3(RBM20):c.3162G>A (p.Glu1054=)
|
rs886046706
|
|
NM_001134363.3(RBM20):c.3162G>T (p.Glu1054Asp)
|
rs886046706
|
|
NM_001134363.3(RBM20):c.3166G>C (p.Ala1056Pro)
|
|
|
NM_001134363.3(RBM20):c.3168C>G (p.Ala1056=)
|
|
|
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly)
|
rs199830512
|
|
NM_001134363.3(RBM20):c.3171G>A (p.Arg1057=)
|
rs886038875
|
|
NM_001134363.3(RBM20):c.3171G>T (p.Arg1057=)
|
rs886038875
|
|
NM_001134363.3(RBM20):c.3172C>A (p.Gln1058Lys)
|
|
|
NM_001134363.3(RBM20):c.3173A>G (p.Gln1058Arg)
|
rs1844915728
|
|
NM_001134363.3(RBM20):c.3189G>C (p.Val1063=)
|
|
|
NM_001134363.3(RBM20):c.318_326del (p.Gln107_Ala109del)
|
rs1054494691
|
|
NM_001134363.3(RBM20):c.318_327delinsG (p.Gln107_Ala109del)
|
rs1554898774
|
|
NM_001134363.3(RBM20):c.3191A>G (p.Asp1064Gly)
|
|
|
NM_001134363.3(RBM20):c.3201G>A (p.Lys1067=)
|
rs1051700573
|
|
NM_001134363.3(RBM20):c.3205A>C (p.Arg1069=)
|
|
|
NM_001134363.3(RBM20):c.3209G>A (p.Gly1070Glu)
|
|
|
NM_001134363.3(RBM20):c.3211A>G (p.Thr1071Ala)
|
|
|
NM_001134363.3(RBM20):c.3212C>T (p.Thr1071Ile)
|
|
|
NM_001134363.3(RBM20):c.3220G>T (p.Asp1074Tyr)
|
|
|
NM_001134363.3(RBM20):c.3225G>T (p.Gly1075=)
|
|
|
NM_001134363.3(RBM20):c.3231T>C (p.Cys1077=)
|
|
|
NM_001134363.3(RBM20):c.3240C>A (p.Ser1080Arg)
|
rs1217393739
|
|
NM_001134363.3(RBM20):c.3240C>T (p.Ser1080=)
|
|
|
NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu)
|
|
|
NM_001134363.3(RBM20):c.3244del (p.Leu1082fs)
|
|
|
NM_001134363.3(RBM20):c.3249G>A (p.Glu1083=)
|
rs2135122572
|
|
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3262C>T (p.Pro1088Ser)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3264C>T (p.Pro1088=)
|
rs1844918076
|
|
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr)
|
rs147356378
|
|
NM_001134363.3(RBM20):c.3265C>T (p.Pro1089Ser)
|
rs147356378
|
|
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His)
|
rs772708424
|
|
NM_001134363.3(RBM20):c.3266C>T (p.Pro1089Leu)
|
rs772708424
|
|
NM_001134363.3(RBM20):c.3267C>T (p.Pro1089=)
|
rs1590702086
|
|
NM_001134363.3(RBM20):c.3267del (p.Ile1090fs)
|
|
|
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs)
|
rs760334885
|
|
NM_001134363.3(RBM20):c.3270C>T (p.Ile1090=)
|
rs1590702098
|
|
NM_001134363.3(RBM20):c.3275C>T (p.Thr1092Ile)
|
|
|
NM_001134363.3(RBM20):c.3277G>A (p.Asp1093Asn)
|
rs1844919019
|
|
NM_001134363.3(RBM20):c.3277G>T (p.Asp1093Tyr)
|
rs1844919019
|
|
NM_001134363.3(RBM20):c.327T>G (p.Ala109=)
|
rs893150326
|
|
NM_001134363.3(RBM20):c.3280C>A (p.Leu1094Ile)
|
|
|
NM_001134363.3(RBM20):c.3288C>T (p.Asn1096=)
|
|
|
NM_001134363.3(RBM20):c.3296G>T (p.Cys1099Phe)
|
|
|
NM_001134363.3(RBM20):c.3304G>A (p.Val1102Met)
|
|
|
NM_001134363.3(RBM20):c.3305T>C (p.Val1102Ala)
|
|
|
NM_001134363.3(RBM20):c.3316+13C>T
|
rs2135122853
|
|
NM_001134363.3(RBM20):c.3316+19C>T
|
|
|
NM_001134363.3(RBM20):c.3316+1G>A
|
|
|
NM_001134363.3(RBM20):c.3316+7A>G
|
|
|
NM_001134363.3(RBM20):c.3317-20C>T
|
rs202039414
|
|
NM_001134363.3(RBM20):c.3317-6T>C
|
rs2135125719
|
|
NM_001134363.3(RBM20):c.3329A>T (p.Tyr1110Phe)
|
rs1844943542
|
|
NM_001134363.3(RBM20):c.332C>T (p.Thr111Ile)
|
|
|
NM_001134363.3(RBM20):c.3330C>G (p.Tyr1110Ter)
|
rs991930637
|
|
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met)
|
rs77110978
|
|
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu)
|
rs77110978
|
|
NM_001134363.3(RBM20):c.3332T>C (p.Val1111Ala)
|
rs2135125770
|
|
NM_001134363.3(RBM20):c.333C>G (p.Thr111=)
|
rs994636707
|
|
NM_001134363.3(RBM20):c.3347T>C (p.Leu1116Pro)
|
|
|
NM_001134363.3(RBM20):c.3359C>T (p.Ser1120Leu)
|
|
|
NM_001134363.3(RBM20):c.3360A>G (p.Ser1120=)
|
|
|
NM_001134363.3(RBM20):c.3365A>G (p.Glu1122Gly)
|
rs762399453
|
|
NM_001134363.3(RBM20):c.3367T>G (p.Tyr1123Asp)
|
|
|
NM_001134363.3(RBM20):c.3382C>G (p.Leu1128Val)
|
|
|
NM_001134363.3(RBM20):c.3383dup (p.Lys1129fs)
|
|
|
NM_001134363.3(RBM20):c.3384G>A (p.Leu1128=)
|
rs2135125889
|
|
NM_001134363.3(RBM20):c.3387A>G (p.Lys1129=)
|
|
|
NM_001134363.3(RBM20):c.3394C>G (p.Leu1132Val)
|
rs1554843750
|
|
NM_001134363.3(RBM20):c.3394C>T (p.Leu1132Phe)
|
|
|
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg)
|
|
|
NM_001134363.3(RBM20):c.3403C>T (p.Pro1135Ser)
|
|
|
NM_001134363.3(RBM20):c.3408T>C (p.Ser1136=)
|
|
|
NM_001134363.3(RBM20):c.3417A>G (p.Pro1139=)
|
rs943336778
|
|
NM_001134363.3(RBM20):c.3421G>A (p.Asp1141Asn)
|
|
|
NM_001134363.3(RBM20):c.3422A>T (p.Asp1141Val)
|
|
|
NM_001134363.3(RBM20):c.3424G>T (p.Val1142Leu)
|
|
|
NM_001134363.3(RBM20):c.3425T>C (p.Val1142Ala)
|
|
|
NM_001134363.3(RBM20):c.3427T>C (p.Phe1143Leu)
|
|
|
NM_001134363.3(RBM20):c.3442A>G (p.Ile1148Val)
|
|
|
NM_001134363.3(RBM20):c.3451+10A>C
|
|
|
NM_001134363.3(RBM20):c.3451+15C>G
|
rs901709377
|
|
NM_001134363.3(RBM20):c.3451+16A>G
|
|
|
NM_001134363.3(RBM20):c.3451+3A>G
|
rs1844945720
|
|
NM_001134363.3(RBM20):c.3451+5G>A
|
rs2135126064
|
|
NM_001134363.3(RBM20):c.3451+7A>C
|
rs1590703098
|
|
NM_001134363.3(RBM20):c.3451+9A>G
|
|
|
NM_001134363.3(RBM20):c.3452-11T>A
|
|
|
NM_001134363.3(RBM20):c.3452-14C>A
|
|
|
NM_001134363.3(RBM20):c.3452-17C>A
|
|
|
NM_001134363.3(RBM20):c.3452-2del
|
rs1845044801
|
|
NM_001134363.3(RBM20):c.3453G>T (p.Gly1151=)
|
|
|
NM_001134363.3(RBM20):c.3455T>G (p.Val1152Gly)
|
|
|
NM_001134363.3(RBM20):c.3456G>A (p.Val1152=)
|
|
|
NM_001134363.3(RBM20):c.3473G>C (p.Arg1158Thr)
|
|
|
NM_001134363.3(RBM20):c.3476C>A (p.Thr1159Asn)
|
|
|
NM_001134363.3(RBM20):c.347C>T (p.Ala116Val)
|
|
|
NM_001134363.3(RBM20):c.3480C>G (p.Gly1160=)
|
|
|
NM_001134363.3(RBM20):c.3480del (p.Tyr1162fs)
|
|
|
NM_001134363.3(RBM20):c.3482T>A (p.Phe1161Tyr)
|
|
|
NM_001134363.3(RBM20):c.3485A>T (p.Tyr1162Phe)
|
rs1845045632
|
|
NM_001134363.3(RBM20):c.3489C>A (p.Cys1163Ter)
|
rs1395153921
|
|
NM_001134363.3(RBM20):c.3492G>A (p.Lys1164=)
|
rs1320944657
|
|
NM_001134363.3(RBM20):c.349G>T (p.Ala117Ser)
|
rs373480063
|
|
NM_001134363.3(RBM20):c.3501G>T (p.Gly1167=)
|
rs1845046064
|
|
NM_001134363.3(RBM20):c.3505T>C (p.Phe1169Leu)
|
|
|
NM_001134363.3(RBM20):c.3507C>T (p.Phe1169=)
|
rs1220205224
|
|
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys)
|
rs371181124
|
|
NM_001134363.3(RBM20):c.3512C>G (p.Thr1171Arg)
|
rs371181124
|
|
NM_001134363.3(RBM20):c.3515G>A (p.Ser1172Asn)
|
rs1165657860
|
|
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys)
|
rs542297252
|
|
NM_001134363.3(RBM20):c.351C>G (p.Ala117=)
|
|
|
NM_001134363.3(RBM20):c.3532A>G (p.Met1178Val)
|
|
|
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile)
|
rs2135041252
|
|
NM_001134363.3(RBM20):c.3551C>T (p.Ala1184Val)
|
rs2135138718
|
|
NM_001134363.3(RBM20):c.3556C>T (p.His1186Tyr)
|
|
|
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg)
|
rs1845047234
|
|
NM_001134363.3(RBM20):c.3562A>G (p.Arg1188Gly)
|
|
|
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser)
|
rs1060503416
|
|
NM_001134363.3(RBM20):c.3565A>G (p.Asn1189Asp)
|
|
|
NM_001134363.3(RBM20):c.3573+10C>T
|
rs864622733
|
|
NM_001134363.3(RBM20):c.3573+12C>G
|
|
|
NM_001134363.3(RBM20):c.3573+14C>G
|
|
|
NM_001134363.3(RBM20):c.3573+8T>A
|
|
|
NM_001134363.3(RBM20):c.3574-10C>T
|
|
|
NM_001134363.3(RBM20):c.3574-12T>G
|
|
|
NM_001134363.3(RBM20):c.3574-13C>A
|
rs1845119329
|
|
NM_001134363.3(RBM20):c.3574-16C>G
|
|
|
NM_001134363.3(RBM20):c.3574-18C>T
|
|
|
NM_001134363.3(RBM20):c.3574-20T>G
|
rs2135147781
|
|
NM_001134363.3(RBM20):c.3579T>C (p.Tyr1193=)
|
|
|
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe)
|
rs753102653
|
|
NM_001134363.3(RBM20):c.3585C>T (p.Ser1195=)
|
|
|
NM_001134363.3(RBM20):c.3586C>T (p.Gln1196Ter)
|
rs1845119781
|
|
NM_001134363.3(RBM20):c.3592_3612dup (p.Ala1198_Glu1204dup)
|
rs2135147884
|
|
NM_001134363.3(RBM20):c.3594_3623dup (p.Glu1199_Ala1208dup)
|
rs1554844950
|
|
NM_001134363.3(RBM20):c.3597G>C (p.Glu1199Asp)
|
rs1177544843
|
|
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val)
|
rs887276458
|
|
NM_001134363.3(RBM20):c.3603C>T (p.Gly1201=)
|
|
|
NM_001134363.3(RBM20):c.3610G>A (p.Glu1204Lys)
|
|
|
NM_001134363.3(RBM20):c.3612G>T (p.Glu1204Asp)
|
rs1845120577
|
|
NM_001134363.3(RBM20):c.3622G>T (p.Ala1208Ser)
|
|
|
NM_001134363.3(RBM20):c.3624A>G (p.Ala1208=)
|
|
|
NM_001134363.3(RBM20):c.3627T>C (p.Asp1209=)
|
rs2135148067
|
|
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu)
|
rs587782973
|
|
NM_001134363.3(RBM20):c.363C>G (p.Asn121Lys)
|
|
|
NM_001134363.3(RBM20):c.3646A>G (p.Ser1216Gly)
|
|
|
NM_001134363.3(RBM20):c.3649G>C (p.Gly1217Arg)
|
|
|
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys)
|
rs727504583
|
|
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu)
|
rs727504583
|
|
NM_001134363.3(RBM20):c.3654C>T (p.Ile1218=)
|
rs1235947843
|
|
NM_001134363.3(RBM20):c.3659del (p.Pro1220fs)
|
rs1485325927
|
|
NM_001134363.3(RBM20):c.365A>C (p.Gln122Pro)
|
|
|
NM_001134363.3(RBM20):c.365A>T (p.Gln122Leu)
|
|
|
NM_001134363.3(RBM20):c.3663C>T (p.Arg1221=)
|
|
|
NM_001134363.3(RBM20):c.3666C>G (p.Phe1222Leu)
|
|
|
NM_001134363.3(RBM20):c.3666C>T (p.Phe1222=)
|
rs558440936
|
|
NM_001134363.3(RBM20):c.3667G>A (p.Glu1223Lys)
|
|
|
NM_001134363.3(RBM20):c.3669A>T (p.Glu1223Asp)
|
rs1290645091
|
|
NM_001134363.3(RBM20):c.3675A>G (p.Lys1225=)
|
rs2135148307
|
|
NM_001134363.3(RBM20):c.371T>C (p.Leu124Pro)
|
|
|
NM_001134363.3(RBM20):c.402C>T (p.Phe134=)
|
|
|
NM_001134363.3(RBM20):c.409C>G (p.Leu137Val)
|
rs876657570
|
|
NM_001134363.3(RBM20):c.425T>C (p.Val142Ala)
|
rs1844333085
|
|
NM_001134363.3(RBM20):c.435C>A (p.Gly145=)
|
rs1289290753
|
|
NM_001134363.3(RBM20):c.436C>T (p.Pro146Ser)
|
|
|
NM_001134363.3(RBM20):c.437C>T (p.Pro146Leu)
|
rs2135041549
|
|
NM_001134363.3(RBM20):c.438C>T (p.Pro146=)
|
|
|
NM_001134363.3(RBM20):c.43G>A (p.Gly15Ser)
|
rs559040957
|
|
NM_001134363.3(RBM20):c.43G>C (p.Gly15Arg)
|
rs559040957
|
|
NM_001134363.3(RBM20):c.440A>G (p.His147Arg)
|
|
|
NM_001134363.3(RBM20):c.453G>C (p.Gly151=)
|
|
|
NM_001134363.3(RBM20):c.454G>T (p.Val152Phe)
|
|
|
NM_001134363.3(RBM20):c.456T>C (p.Val152=)
|
rs962374472
|
|
NM_001134363.3(RBM20):c.458C>T (p.Pro153Leu)
|
|
|
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter)
|
rs2135041646
|
|
NM_001134363.3(RBM20):c.464A>T (p.His155Leu)
|
rs1844333730
|
|
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del)
|
rs1231520936
|
|
NM_001134363.3(RBM20):c.478C>T (p.Pro160Ser)
|
|
|
NM_001134363.3(RBM20):c.48G>C (p.Pro16=)
|
rs2134792583
|
|
NM_001134363.3(RBM20):c.502G>A (p.Ala168Thr)
|
|
|
NM_001134363.3(RBM20):c.503C>T (p.Ala168Val)
|
|
|
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val)
|
rs2135041793
|
|
NM_001134363.3(RBM20):c.507T>A (p.Ile169=)
|
|
|
NM_001134363.3(RBM20):c.508G>C (p.Ala170Pro)
|
|
|
NM_001134363.3(RBM20):c.509C>G (p.Ala170Gly)
|
|
|
NM_001134363.3(RBM20):c.514dup (p.Ser172fs)
|
|
|
NM_001134363.3(RBM20):c.519C>T (p.Pro173=)
|
rs1844336418
|
|
NM_001134363.3(RBM20):c.520C>A (p.Pro174Thr)
|
|
|
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
|
|
|
NM_001134363.3(RBM20):c.521C>T (p.Pro174Leu)
|
|
|
NM_001134363.3(RBM20):c.522C>G (p.Pro174=)
|
rs890687647
|
|
NM_001134363.3(RBM20):c.522del (p.Ser175fs)
|
rs1844336329
|
|
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg)
|
rs183130427
|
|
NM_001134363.3(RBM20):c.532C>A (p.Arg178=)
|
rs794729161
|
|
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter)
|
rs794729161
|
|
NM_001134363.3(RBM20):c.533G>C (p.Arg178Pro)
|
rs561085365
|
|
NM_001134363.3(RBM20):c.536_537delinsTT (p.Gly179Val)
|
rs2135041998
|
|
NM_001134363.3(RBM20):c.544C>T (p.Pro182Ser)
|
|
|
NM_001134363.3(RBM20):c.549C>T (p.Ser183=)
|
|
|
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr)
|
rs2135042080
|
|
NM_001134363.3(RBM20):c.556C>T (p.Leu186Phe)
|
|
|
NM_001134363.3(RBM20):c.559C>G (p.Pro187Ala)
|
|
|
NM_001134363.3(RBM20):c.57_58delinsTT (p.Asp20Tyr)
|
rs2134792632
|
|
NM_001134363.3(RBM20):c.580A>G (p.Met194Val)
|
rs2135042187
|
|
NM_001134363.3(RBM20):c.586A>T (p.Met196Leu)
|
|
|
NM_001134363.3(RBM20):c.593C>A (p.Pro198His)
|
|
|
NM_001134363.3(RBM20):c.602G>C (p.Gly201Ala)
|
|
|
NM_001134363.3(RBM20):c.603G>A (p.Gly201=)
|
|
|
NM_001134363.3(RBM20):c.606A>G (p.Val202=)
|
|
|
NM_001134363.3(RBM20):c.633A>G (p.Ala211=)
|
|
|
NM_001134363.3(RBM20):c.636C>T (p.Val212=)
|
|
|
NM_001134363.3(RBM20):c.639C>G (p.Ile213Met)
|
|
|
NM_001134363.3(RBM20):c.651C>G (p.Gly217=)
|
rs2135042424
|
|
NM_001134363.3(RBM20):c.657T>G (p.Thr219=)
|
|
|
NM_001134363.3(RBM20):c.659G>A (p.Gly220Glu)
|
rs2135042457
|
|
NM_001134363.3(RBM20):c.662C>T (p.Pro221Leu)
|
|
|
NM_001134363.3(RBM20):c.680G>A (p.Gly227Glu)
|
rs202238753
|
|
NM_001134363.3(RBM20):c.68C>T (p.Ala23Val)
|
rs925693368
|
|
NM_001134363.3(RBM20):c.692A>G (p.Tyr231Cys)
|
|
|
NM_001134363.3(RBM20):c.698A>G (p.Lys233Arg)
|
|
|
NM_001134363.3(RBM20):c.69C>T (p.Ala23=)
|
|
|
NM_001134363.3(RBM20):c.700G>C (p.Ala234Pro)
|
|
|
NM_001134363.3(RBM20):c.702C>T (p.Ala234=)
|
rs2135042763
|
|
NM_001134363.3(RBM20):c.705C>A (p.Ser235Arg)
|
rs1257780371
|
|
NM_001134363.3(RBM20):c.705C>T (p.Ser235=)
|
|
|
NM_001134363.3(RBM20):c.707C>G (p.Ser236Cys)
|
rs548382173
|
|
NM_001134363.3(RBM20):c.70T>A (p.Cys24Ser)
|
rs1371624996
|
|
NM_001134363.3(RBM20):c.70T>C (p.Cys24Arg)
|
rs1371624996
|
|
NM_001134363.3(RBM20):c.710G>A (p.Gly237Asp)
|
|
|
NM_001134363.3(RBM20):c.719A>G (p.Tyr240Cys)
|
|
|
NM_001134363.3(RBM20):c.720T>C (p.Tyr240=)
|
rs1844342633
|
|
NM_001134363.3(RBM20):c.722G>T (p.Gly241Val)
|
rs1844342727
|
|
NM_001134363.3(RBM20):c.723C>A (p.Gly241=)
|
|
|
NM_001134363.3(RBM20):c.72C>T (p.Cys24=)
|
rs2134792657
|
|
NM_001134363.3(RBM20):c.732A>G (p.Thr244=)
|
|
|
NM_001134363.3(RBM20):c.736G>T (p.Gly246Cys)
|
|
|
NM_001134363.3(RBM20):c.741G>T (p.Gln247His)
|
|
|
NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu)
|
|
|
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val)
|
rs397516623
|
|
NM_001134363.3(RBM20):c.747C>T (p.Gly249=)
|
|
|
NM_001134363.3(RBM20):c.750C>T (p.Phe250=)
|
|
|
NM_001134363.3(RBM20):c.751C>T (p.Leu251=)
|
|
|
NM_001134363.3(RBM20):c.75T>C (p.Ser25=)
|
rs2134792666
|
|
NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp)
|
|
|
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser)
|
rs758718732
|
|
NM_001134363.3(RBM20):c.794_795dup (p.His266fs)
|
rs1564844065
|
|
NM_001134363.3(RBM20):c.809C>T (p.Thr270Ile)
|
|
|
NM_001134363.3(RBM20):c.812G>A (p.Gly271Glu)
|
rs1055998681
|
|
NM_001134363.3(RBM20):c.81T>C (p.Pro27=)
|
|
|
NM_001134363.3(RBM20):c.825A>G (p.Gln275=)
|
|
|
NM_001134363.3(RBM20):c.828T>C (p.Ala276=)
|
rs2135043381
|
|
NM_001134363.3(RBM20):c.829G>A (p.Ala277Thr)
|
rs894218251
|
|
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg)
|
rs2135043435
|
|
NM_001134363.3(RBM20):c.844T>G (p.Phe282Val)
|
rs2135043456
|
|
NM_001134363.3(RBM20):c.851G>A (p.Gly284Glu)
|
|
|
NM_001134363.3(RBM20):c.853C>A (p.Pro285Thr)
|
|
|
NM_001134363.3(RBM20):c.854C>T (p.Pro285Leu)
|
|
|
NM_001134363.3(RBM20):c.855C>T (p.Pro285=)
|
|
|
NM_001134363.3(RBM20):c.857A>G (p.Asn286Ser)
|
|
|
NM_001134363.3(RBM20):c.860C>T (p.Ser287Phe)
|
rs1844346532
|
|
NM_001134363.3(RBM20):c.864A>T (p.Gln288His)
|
|
|
NM_001134363.3(RBM20):c.870A>G (p.Ser290=)
|
rs1554898912
|
|
NM_001134363.3(RBM20):c.873T>C (p.His291=)
|
|
|
NM_001134363.3(RBM20):c.874G>T (p.Val292Leu)
|
rs886046702
|
|
NM_001134363.3(RBM20):c.87_92del (p.Arg30_Ala31del)
|
rs2134792690
|
|
NM_001134363.3(RBM20):c.880A>G (p.Ser294Gly)
|
rs1844347006
|
|
NM_001134363.3(RBM20):c.882C>A (p.Ser294Arg)
|
rs374921844
|
|
NM_001134363.3(RBM20):c.89_90delinsCA (p.Arg30Pro)
|
rs1861838722
|
|
NM_001134363.3(RBM20):c.900G>T (p.Gln300His)
|
|
|
NM_001134363.3(RBM20):c.901del (p.Ala301fs)
|
rs1844347315
|
|
NM_001134363.3(RBM20):c.902C>T (p.Ala301Val)
|
|
|
NM_001134363.3(RBM20):c.906G>T (p.Gly302=)
|
rs1379882102
|
|
NM_001134363.3(RBM20):c.907G>A (p.Gly303Ser)
|
|
|
NM_001134363.3(RBM20):c.914A>C (p.Lys305Thr)
|
|
|
NM_001134363.3(RBM20):c.922G>A (p.Val308Ile)
|
rs1590674817
|
|
NM_001134363.3(RBM20):c.924C>G (p.Val308=)
|
rs772918485
|
|
NM_001134363.3(RBM20):c.929C>T (p.Pro310Leu)
|
|
|
NM_001134363.3(RBM20):c.933G>A (p.Leu311=)
|
rs761015603
|
|
NM_001134363.3(RBM20):c.934C>T (p.Leu312=)
|
|
|
NM_001134363.3(RBM20):c.936G>T (p.Leu312=)
|
rs1283162002
|
|
NM_001134363.3(RBM20):c.937C>A (p.Gln313Lys)
|
|
|
NM_001134363.3(RBM20):c.939G>A (p.Gln313=)
|
|
|
NM_001134363.3(RBM20):c.950G>A (p.Ser317Asn)
|
rs1844348749
|
|
NM_001134363.3(RBM20):c.956G>A (p.Trp319Ter)
|
|
|
NM_001134363.3(RBM20):c.964C>A (p.Pro322Thr)
|
|
|
NM_001134363.3(RBM20):c.968A>G (p.His323Arg)
|
rs568559249
|
|
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu)
|
|
|
NM_001134363.3(RBM20):c.975C>T (p.Phe325=)
|
|
|
NM_001134363.3(RBM20):c.978G>C (p.Ser326=)
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rs930912173
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NM_001134363.3(RBM20):c.980G>A (p.Gly327Asp)
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NM_001134363.3(RBM20):c.982C>T (p.Gln328Ter)
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NM_001134363.3(RBM20):c.98C>G (p.Pro33Arg)
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NM_001134363.3(RBM20):c.98del (p.Pro33fs)
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rs1413443268
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NM_001134363.3(RBM20):c.991C>T (p.Pro331Ser)
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NM_001134363.3(RBM20):c.995A>T (p.Asp332Val)
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NM_001134363.3(RBM20):c.99G>A (p.Pro33=)
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