NM_001005361.3(DNM2):c.992+231G>A
|
rs8102648
|
0.93725
|
NM_001005361.3(DNM2):c.236-29C>G
|
rs3826803
|
0.56569
|
NM_001005361.3(DNM2):c.1128+158G>C
|
rs1610095
|
0.52451
|
NM_001005361.3(DNM2):c.1128+169T>C
|
rs2278444
|
0.34249
|
NM_001005361.3(DNM2):c.386-173G>T
|
rs4804528
|
0.32115
|
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)
|
rs2229920
|
0.30148
|
NM_001005361.3(DNM2):c.1893+248T>C
|
rs67417605
|
0.29061
|
NM_001005361.3(DNM2):c.*268A>T
|
rs12461992
|
0.17591
|
NM_001005361.3(DNM2):c.2058+262A>G
|
rs12973986
|
0.15029
|
NM_001005361.3(DNM2):c.1545+41C>T
|
rs2287029
|
0.12846
|
NM_001005361.3(DNM2):c.1893+31_1893+32insC
|
rs138202845
|
0.06030
|
NM_001005361.3(DNM2):c.2292-85A>G
|
rs58724234
|
0.05980
|
NM_001005361.3(DNM2):c.2058+89G>A
|
rs57561584
|
0.05640
|
NM_001005361.3(DNM2):c.161+228C>G
|
rs113305450
|
0.05468
|
NM_001005361.3(DNM2):c.*385C>T
|
rs78160240
|
0.03446
|
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=)
|
rs112238216
|
0.02416
|
NM_001005361.3(DNM2):c.590-168T>C
|
rs10405772
|
0.02208
|
NM_001005361.3(DNM2):c.1894-181G>A
|
rs114589854
|
0.01671
|
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=)
|
rs114682382
|
0.01064
|
NM_001005361.3(DNM2):c.235+12C>A
|
rs147026993
|
0.00953
|
NM_001005361.3(DNM2):c.1782-11C>T
|
rs78580529
|
0.00921
|
NM_001005361.3(DNM2):c.235+6A>G
|
rs113192269
|
0.00748
|
NM_001005361.3(DNM2):c.1196+773C>T
|
rs150975494
|
0.00628
|
NM_001005361.3(DNM2):c.*47G>A
|
rs367938944
|
0.00550
|
NM_001005361.3(DNM2):c.1129-40C>T
|
rs199742926
|
0.00375
|
NM_001005361.3(DNM2):c.2543+7C>G
|
rs201979143
|
0.00364
|
NM_001005361.3(DNM2):c.236-8C>G
|
rs143084059
|
0.00361
|
NM_001005361.3(DNM2):c.519T>C (p.Ala173=)
|
rs77702567
|
0.00359
|
NM_001005361.3(DNM2):c.1545+14C>G
|
rs114713494
|
0.00350
|
NM_001005361.3(DNM2):c.*671T>C
|
rs190696940
|
0.00325
|
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile)
|
rs144250390
|
0.00243
|
NM_001005361.3(DNM2):c.1781+17C>A
|
rs75344643
|
0.00220
|
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn)
|
rs145478270
|
0.00168
|
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=)
|
rs117598326
|
0.00163
|
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=)
|
rs2229919
|
0.00149
|
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr)
|
rs148790687
|
0.00123
|
NM_001005361.3(DNM2):c.386-6T>A
|
rs114623441
|
0.00118
|
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=)
|
rs147668465
|
0.00116
|
NM_001005361.3(DNM2):c.1782-5C>T
|
rs200103145
|
0.00113
|
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=)
|
rs149164657
|
0.00102
|
NM_001005361.3(DNM2):c.*607G>A
|
rs117954916
|
0.00085
|
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu)
|
rs3745674
|
0.00043
|
NM_001005361.3(DNM2):c.1493+12T>C
|
rs200489732
|
0.00036
|
NM_001005361.3(DNM2):c.*10G>A
|
rs200188660
|
0.00029
|
NM_001005361.3(DNM2):c.589+17G>T
|
rs374377836
|
0.00028
|
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=)
|
rs200100669
|
0.00027
|
NM_001005361.3(DNM2):c.*321A>G
|
rs149937994
|
0.00026
|
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209
|
0.00026
|
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)
|
rs142963320
|
0.00024
|
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn)
|
rs149825590
|
0.00021
|
NM_001005361.3(DNM2):c.882G>A (p.Pro294=)
|
rs144790170
|
0.00018
|
NM_001005361.3(DNM2):c.*453C>T
|
rs200104482
|
0.00016
|
NM_001005361.3(DNM2):c.528C>T (p.Pro176=)
|
rs147579870
|
0.00015
|
NM_001005361.3(DNM2):c.1423-12G>A
|
rs376753915
|
0.00014
|
NM_001005361.3(DNM2):c.789G>A (p.Pro263=)
|
rs199976453
|
0.00014
|
NM_001005361.3(DNM2):c.1196+711A>T
|
rs186762327
|
0.00011
|
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala)
|
rs201575500
|
0.00011
|
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=)
|
rs373161548
|
0.00011
|
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn)
|
rs375151459
|
0.00011
|
NM_001005361.3(DNM2):c.*14C>T
|
rs369529119
|
0.00010
|
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=)
|
rs147463138
|
0.00009
|
NM_001005361.3(DNM2):c.555C>T (p.Asp185=)
|
rs140788791
|
0.00009
|
NM_001005361.3(DNM2):c.666C>T (p.Asn222=)
|
rs2229921
|
0.00008
|
NM_001005361.3(DNM2):c.876G>A (p.Ser292=)
|
rs749140605
|
0.00008
|
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=)
|
rs369345296
|
0.00007
|
NM_001005361.3(DNM2):c.1558-7C>A
|
rs184310103
|
0.00006
|
NM_001005361.3(DNM2):c.450A>G (p.Pro150=)
|
rs766121627
|
0.00006
|
NM_001005361.3(DNM2):c.543G>A (p.Leu181=)
|
rs374823728
|
0.00006
|
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met)
|
rs748286191
|
0.00004
|
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469
|
0.00004
|
NM_001005361.3(DNM2):c.*601C>T
|
rs185820576
|
0.00003
|
NM_001005361.3(DNM2):c.890G>A (p.Arg297His)
|
rs763894364
|
0.00003
|
NM_001005361.3(DNM2):c.1196+710G>A
|
rs140208362
|
0.00002
|
NM_001005361.3(DNM2):c.1671+14G>A
|
rs767768534
|
0.00002
|
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=)
|
rs35365412
|
0.00002
|
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=)
|
rs767061986
|
0.00002
|
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)
|
rs776126973
|
0.00001
|
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=)
|
rs767407905
|
0.00001
|
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser)
|
rs577767034
|
0.00001
|
NC_000019.10:g.10717821dup
|
rs35784277
|
|
NM_001005361.3(DNM2):c.*22C>T
|
rs531170486
|
|
NM_001005361.3(DNM2):c.*35C>G
|
rs199700849
|
|
NM_001005361.3(DNM2):c.*386G>C
|
rs74952080
|
|
NM_001005361.3(DNM2):c.1128+12dup
|
|
|
NM_001005361.3(DNM2):c.1196+643C>T
|
rs563985581
|
|
NM_001005361.3(DNM2):c.1197-62G>C
|
rs74718485
|
|
NM_001005361.3(DNM2):c.1494-43C>G
|
rs2287028
|
|
NM_001005361.3(DNM2):c.162-7C>A
|
rs148318860
|
|
NM_001005361.3(DNM2):c.162-7dup
|
|
|
NM_001005361.3(DNM2):c.1782-5del
|
rs760441017
|
|
NM_001005361.3(DNM2):c.1782-5dup
|
rs760441017
|
|
NM_001005361.3(DNM2):c.235+240dup
|
rs113004875
|
|
NM_001005361.3(DNM2):c.386-6T>C
|
rs114623441
|
|
NM_001005361.3(DNM2):c.590-31CCTCTGA[3]
|
rs748362325
|
|