NM_000489.6(ATRX):c.2785= (p.Glu929=)
|
rs3088074
|
0.49116
|
NM_000489.6(ATRX):c.4659T>C (p.His1553=)
|
rs25641
|
0.05840
|
NM_000489.6(ATRX):c.228G>A (p.Ser76=)
|
rs5959371
|
0.03016
|
NM_000489.6(ATRX):c.4557+33G>A
|
rs5912716
|
0.01177
|
NM_000489.6(ATRX):c.288A>G (p.Lys96=)
|
rs45574238
|
0.01127
|
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser)
|
rs45439799
|
0.00663
|
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu)
|
rs35738915
|
0.00636
|
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=)
|
rs148975763
|
0.00350
|
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu)
|
rs61758732
|
0.00137
|
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=)
|
rs141974120
|
0.00129
|
NM_000489.6(ATRX):c.846C>T (p.Ser282=)
|
rs148015780
|
0.00101
|
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser)
|
rs45624939
|
0.00075
|
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys)
|
rs139131007
|
0.00056
|
NM_000489.6(ATRX):c.1423C>G (p.His475Asp)
|
rs146863015
|
0.00050
|
NM_000489.6(ATRX):c.4120+4A>C
|
rs200420513
|
0.00046
|
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp)
|
rs61752456
|
0.00041
|
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile)
|
rs144527582
|
0.00037
|
NM_000489.6(ATRX):c.2680A>C (p.Thr894Pro)
|
rs145807475
|
0.00026
|
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala)
|
rs186742436
|
0.00024
|
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=)
|
rs148659669
|
0.00023
|
NM_000489.6(ATRX):c.1467C>T (p.Thr489=)
|
rs199929884
|
0.00020
|
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys)
|
rs200343648
|
0.00013
|
NM_000489.6(ATRX):c.1032C>T (p.Ser344=)
|
rs143491422
|
0.00011
|
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val)
|
rs374244026
|
0.00010
|
NM_000489.6(ATRX):c.1606A>G (p.Met536Val)
|
rs781865069
|
0.00009
|
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met)
|
rs191563592
|
0.00009
|
NM_000489.6(ATRX):c.570T>G (p.Pro190=)
|
rs188831993
|
0.00009
|
NM_000489.6(ATRX):c.1798A>G (p.Ile600Val)
|
rs375129029
|
0.00008
|
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg)
|
rs145678415
|
0.00008
|
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn)
|
rs151273832
|
0.00007
|
NM_000489.6(ATRX):c.189G>A (p.Glu63=)
|
rs587778082
|
0.00006
|
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu)
|
rs61752457
|
0.00006
|
NM_000489.6(ATRX):c.3513A>T (p.Arg1171Ser)
|
rs868995055
|
0.00006
|
NM_000489.6(ATRX):c.1077G>T (p.Leu359=)
|
rs782504858
|
0.00005
|
NM_000489.6(ATRX):c.1169G>A (p.Arg390His)
|
rs367986587
|
0.00005
|
NM_000489.6(ATRX):c.1386T>C (p.Ala462=)
|
rs367596462
|
0.00005
|
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val)
|
rs587778087
|
0.00005
|
NM_000489.6(ATRX):c.3794A>G (p.Asn1265Ser)
|
rs371187842
|
0.00005
|
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=)
|
rs782097254
|
0.00005
|
NM_000489.6(ATRX):c.2484G>C (p.Met828Ile)
|
rs782705007
|
0.00004
|
NM_000489.6(ATRX):c.3042T>C (p.Asp1014=)
|
rs140476563
|
0.00004
|
NM_000489.6(ATRX):c.5697+13A>C
|
rs782387510
|
0.00003
|
NM_000489.6(ATRX):c.6327-16A>G
|
rs1457254023
|
0.00003
|
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=)
|
rs782703242
|
0.00003
|
NM_000489.6(ATRX):c.1345C>G (p.Pro449Ala)
|
rs1557141862
|
0.00002
|
NM_000489.6(ATRX):c.3315A>G (p.Gln1105=)
|
rs782378663
|
0.00002
|
NM_000489.6(ATRX):c.4699+9C>T
|
rs782140505
|
0.00002
|
NM_000489.6(ATRX):c.7044A>G (p.Gln2348=)
|
rs375935735
|
0.00002
|
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln)
|
rs1557142053
|
0.00001
|
NM_000489.6(ATRX):c.134-3T>A
|
rs587780287
|
0.00001
|
NM_000489.6(ATRX):c.1608G>T (p.Met536Ile)
|
rs1057518436
|
0.00001
|
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr)
|
rs782530243
|
0.00001
|
NM_000489.6(ATRX):c.2513A>G (p.Lys838Arg)
|
rs587778085
|
0.00001
|
NM_000489.6(ATRX):c.2522T>C (p.Ile841Thr)
|
rs797045405
|
0.00001
|
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg)
|
rs587778086
|
0.00001
|
NM_000489.6(ATRX):c.2692G>C (p.Asp898His)
|
rs781903868
|
0.00001
|
NM_000489.6(ATRX):c.2761G>T (p.Val921Phe)
|
rs587778088
|
0.00001
|
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr)
|
rs1057523431
|
0.00001
|
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg)
|
rs782556767
|
0.00001
|
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg)
|
rs1569528833
|
0.00001
|
NM_000489.6(ATRX):c.672G>A (p.Ala224=)
|
rs782223625
|
0.00001
|
NM_000489.6(ATRX):c.7072-8T>C
|
rs782602387
|
0.00001
|
NM_000489.6(ATRX):c.88G>C (p.Glu30Gln)
|
rs1427263828
|
0.00001
|
NC_000023.10:g.(?_76760355)_(76777867_76778729)dup
|
|
|
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln)
|
rs2071415045
|
|
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn)
|
rs2071413817
|
|
NM_000489.6(ATRX):c.1219C>G (p.Leu407Val)
|
rs1557142145
|
|
NM_000489.6(ATRX):c.134-9C>T
|
rs782350220
|
|
NM_000489.6(ATRX):c.1446A>G (p.Glu482=)
|
rs886044778
|
|
NM_000489.6(ATRX):c.2104A>G (p.Asn702Asp)
|
rs1557140316
|
|
NM_000489.6(ATRX):c.2461_2466del (p.Leu821_Glu822del)
|
rs781862926
|
|
NM_000489.6(ATRX):c.2595C>G (p.His865Gln)
|
rs61752455
|
|
NM_000489.6(ATRX):c.278A>G (p.Asp93Gly)
|
rs1064796774
|
|
NM_000489.6(ATRX):c.3349A>G (p.Met1117Val)
|
rs1569538741
|
|
NM_000489.6(ATRX):c.3737-8C>T
|
rs2070862607
|
|
NM_000489.6(ATRX):c.4035G>A (p.Leu1345=)
|
rs111725949
|
|
NM_000489.6(ATRX):c.4253G>C (p.Ser1418Thr)
|
rs2148451092
|
|
NM_000489.6(ATRX):c.4314_4316dup (p.Asn1438_Lys1439insAsn)
|
|
|
NM_000489.6(ATRX):c.4317+4A>G
|
rs963331082
|
|
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del)
|
rs398123423
|
|
NM_000489.6(ATRX):c.4365GGA[6] (p.Glu1464dup)
|
rs398123423
|
|
NM_000489.6(ATRX):c.4483A>T (p.Asn1495Tyr)
|
rs782533736
|
|
NM_000489.6(ATRX):c.4810-19A>G
|
rs1557106791
|
|
NM_000489.6(ATRX):c.5167delinsGAAGGC (p.Ile1723fs)
|
rs587778083
|
|
NM_000489.6(ATRX):c.5271G>A (p.Glu1757=)
|
rs141240580
|
|
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp)
|
rs141240580
|
|
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe)
|
rs1057521987
|
|
NM_000489.6(ATRX):c.5576A>G (p.Asn1859Ser)
|
rs587778084
|
|
NM_000489.6(ATRX):c.5787-24GTTT[4]
|
rs782072699
|
|
NM_000489.6(ATRX):c.654A>G (p.Glu218=)
|
rs782378258
|
|
NM_000489.6(ATRX):c.7158A>G (p.Arg2386=)
|
rs1557041056
|
|
NM_000489.6(ATRX):c.7233C>T (p.Asn2411=)
|
rs1557034927
|
|
NM_000489.6(ATRX):c.7396G>T (p.Gly2466Cys)
|
rs782540364
|
|
NM_000489.6(ATRX):c.838T>C (p.Cys280Arg)
|
rs797045408
|
|
NM_000489.6(ATRX):c.862G>A (p.Glu288Lys)
|
|
|
NM_000489.6(ATRX):c.927_929dup (p.Tyr309_Glu310insAsp)
|
rs1557142576
|
|
NM_000489.6(ATRX):c.983A>G (p.Glu328Gly)
|
rs1557142526
|
|