NM_133642.5(LARGE1):c.2073+152G>A
|
rs2075921
|
0.04155
|
NM_133642.5(LARGE1):c.*207G>A
|
rs16992036
|
0.03294
|
NM_133642.5(LARGE1):c.1452-293A>G
|
rs1555007
|
0.02310
|
NM_133642.5(LARGE1):c.408+269G>A
|
rs16992701
|
0.01756
|
NM_133642.5(LARGE1):c.788-65A>G
|
rs80069366
|
0.01526
|
NM_133642.5(LARGE1):c.1131+221C>T
|
rs16992221
|
0.01412
|
NM_133642.5(LARGE1):c.1288-125G>A
|
rs117098200
|
0.01356
|
NM_133642.5(LARGE1):c.2074-265G>A
|
rs16992044
|
0.01297
|
NM_133642.5(LARGE1):c.491+204G>A
|
rs117818422
|
0.01119
|
NM_133642.5(LARGE1):c.2074-98G>C
|
rs41282599
|
0.01097
|
NM_133642.5(LARGE1):c.1005+282G>A
|
rs116177817
|
0.01071
|
NM_133642.5(LARGE1):c.1131+110G>T
|
rs78374444
|
0.01046
|
NM_133642.5(LARGE1):c.1287+146C>T
|
rs138816517
|
0.00980
|
NM_133642.5(LARGE1):c.1452-226_1452-225insGATATCA
|
rs1569034184
|
0.00933
|
NM_133642.5(LARGE1):c.1877+99C>T
|
rs79668268
|
0.00826
|
NM_133642.5(LARGE1):c.1451+38C>T
|
rs80016718
|
0.00792
|
NM_133642.5(LARGE1):c.1287+56A>G
|
rs112252346
|
0.00774
|
NM_133642.5(LARGE1):c.1131+58C>T
|
rs144087511
|
0.00746
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_133642.5(LARGE1):c.-83+187C>T
|
rs77908284
|
0.00605
|
NM_133642.5(LARGE1):c.1005+176C>T
|
rs73882212
|
0.00597
|
NM_133642.5(LARGE1):c.788-29A>G
|
rs147579402
|
0.00569
|
NM_133642.5(LARGE1):c.1005+98G>A
|
rs2235151
|
0.00503
|
NM_133642.5(LARGE1):c.892+50C>T
|
rs62225294
|
0.00471
|
NM_133642.5(LARGE1):c.-83+63134A>G
|
rs148432069
|
0.00374
|
NM_133642.5(LARGE1):c.1451+273A>G
|
rs190325661
|
0.00354
|
NM_133642.5(LARGE1):c.408+42C>T
|
rs183384695
|
0.00330
|
NM_133642.5(LARGE1):c.616-304T>G
|
rs182874546
|
0.00227
|
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=)
|
rs74550830
|
0.00224
|
NM_133642.5(LARGE1):c.210C>T (p.Arg70=)
|
rs145048151
|
0.00220
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=)
|
rs144216539
|
0.00100
|
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=)
|
rs146552975
|
0.00092
|
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=)
|
rs116734942
|
0.00081
|
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=)
|
rs141089495
|
0.00070
|
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys)
|
rs116164106
|
0.00057
|
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile)
|
rs56239539
|
0.00027
|
NM_133642.5(LARGE1):c.1878-11G>T
|
rs200819807
|
0.00025
|
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met)
|
rs368043810
|
0.00016
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=)
|
rs114246562
|
0.00011
|
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=)
|
rs369773678
|
0.00010
|
NM_133642.5(LARGE1):c.432C>T (p.Cys144=)
|
rs201977889
|
0.00009
|
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=)
|
rs113492643
|
0.00006
|
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=)
|
rs561439887
|
0.00004
|
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln)
|
rs142272515
|
0.00003
|
NM_133642.5(LARGE1):c.417C>T (p.His139=)
|
rs115575249
|
0.00003
|
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=)
|
rs772615481
|
0.00002
|
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=)
|
rs751341620
|
0.00002
|
NM_133642.5(LARGE1):c.1878-24A>G
|
rs375863881
|
0.00002
|
NM_133642.5(LARGE1):c.615+8C>T
|
rs587783731
|
0.00002
|
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=)
|
rs369877399
|
0.00001
|
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=)
|
rs755991003
|
0.00001
|
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=)
|
rs372629986
|
0.00001
|
NM_133642.5(LARGE1):c.1902C>T (p.His634=)
|
rs754149838
|
0.00001
|
GRCh37/hg19 22q12.3(chr22:33923345-33983594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34098416-34197367)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34130912-34188220)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34287350-34315294)x3
|
|
|
NM_133642.5(LARGE1):c.117C>A (p.Pro39=)
|
rs140622529
|
|
NM_133642.5(LARGE1):c.1314C>T (p.Asp438=)
|
|
|
NM_133642.5(LARGE1):c.1452-1058A>T
|
|
|
NM_133642.5(LARGE1):c.1452-7C>T
|
rs760909985
|
|
NM_133642.5(LARGE1):c.1731-10C>T
|
rs772579469
|
|
NM_133642.5(LARGE1):c.216G>C (p.Val72=)
|
rs567998643
|
|
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=)
|
rs1406330296
|
|
NM_133642.5(LARGE1):c.409-39G>C
|
rs145859359
|
|
NM_133642.5(LARGE1):c.549C>T (p.Ala183=)
|
rs1602669837
|
|
NM_133642.5(LARGE1):c.616-39del
|
rs201800550
|
|
NM_133642.5(LARGE1):c.690T>C (p.Thr230=)
|
rs753562472
|
|
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGCATGA
|
rs146169927
|
|
NM_133642.5(LARGE1):c.788-333ATGA[11]
|
rs10626676
|
|
NM_133642.5(LARGE1):c.788-346CATG[5]
|
rs1555916106
|
|
NM_133642.5(LARGE1):c.909T>G (p.Leu303=)
|
rs563144239
|
|