NM_133642.5(LARGE1):c.-82-269A>G
|
rs238859
|
0.90462
|
NM_133642.5(LARGE1):c.-83+62952T>C
|
rs1009383
|
0.81885
|
NM_133642.5(LARGE1):c.-83+63438C>T
|
rs2277840
|
0.81847
|
NM_133642.5(LARGE1):c.615+191A>G
|
rs695504
|
0.59717
|
NM_133642.5(LARGE1):c.787+158T>C
|
rs713795
|
0.39970
|
NM_133642.5(LARGE1):c.435C>T (p.Ala145=)
|
rs86487
|
0.39804
|
NM_133642.5(LARGE1):c.1288-214G>A
|
rs2285105
|
0.29048
|
NM_133642.5(LARGE1):c.1132-208G>A
|
rs2285106
|
0.28141
|
NM_133642.5(LARGE1):c.615+246A>G
|
rs2239746
|
0.26150
|
NM_133642.5(LARGE1):c.615+139G>C
|
rs695258
|
0.26121
|
NM_133642.5(LARGE1):c.788-330A>C
|
rs2280978
|
0.14711
|
NM_133642.5(LARGE1):c.1132-153C>T
|
rs2157198
|
0.13774
|
NM_133642.5(LARGE1):c.1132-175A>G
|
rs2157199
|
0.13762
|
NM_133642.5(LARGE1):c.1132-190G>T
|
rs2157200
|
0.13752
|
NM_133642.5(LARGE1):c.893-235T>G
|
rs76972817
|
0.11531
|
NM_133642.5(LARGE1):c.408+144G>A
|
rs5994783
|
0.11500
|
NM_133642.5(LARGE1):c.787+286G>T
|
rs5999013
|
0.11071
|
NM_133642.5(LARGE1):c.1287+105G>C
|
rs16992166
|
0.10729
|
NM_133642.5(LARGE1):c.1006-195G>A
|
rs16992223
|
0.09734
|
NM_133642.5(LARGE1):c.1131+258C>G
|
rs11912366
|
0.09699
|
NM_133642.5(LARGE1):c.1731-91C>G
|
rs1018365
|
0.09684
|
NM_133642.5(LARGE1):c.408+247G>A
|
rs9621740
|
0.09675
|
NM_133642.5(LARGE1):c.-63C>T
|
rs16992986
|
0.09348
|
NM_133642.5(LARGE1):c.1877+183C>T
|
rs17795326
|
0.08458
|
NM_133642.5(LARGE1):c.*921C>G
|
rs16992034
|
0.07871
|
NM_133642.5(LARGE1):c.409-65del
|
rs68171942
|
0.07537
|
NM_133642.5(LARGE1):c.-397C>G
|
rs114106875
|
0.07319
|
NM_133642.5(LARGE1):c.1730+67A>G
|
rs78116727
|
0.06015
|
NM_133642.5(LARGE1):c.787+120G>C
|
rs3213513
|
0.05608
|
NM_133642.5(LARGE1):c.1730+286A>G
|
rs73166234
|
0.05185
|
NM_133642.5(LARGE1):c.788-181G>A
|
rs73166278
|
0.04905
|
NM_133642.5(LARGE1):c.2074-69C>T
|
rs41282597
|
0.04735
|
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=)
|
rs17722172
|
0.04733
|
NM_133642.5(LARGE1):c.892+79T>G
|
rs16992336
|
0.04142
|
NM_133642.5(LARGE1):c.1452-225C>G
|
rs79665582
|
0.04130
|
NM_133642.5(LARGE1):c.1132-318A>G
|
rs11913784
|
0.04109
|
NM_133642.5(LARGE1):c.1452-254A>C
|
rs75528068
|
0.03710
|
NM_133642.5(LARGE1):c.1731-24T>C
|
rs73399532
|
0.03540
|
NM_133642.5(LARGE1):c.*154C>A
|
rs73399512
|
0.03456
|
NM_133642.5(LARGE1):c.*856G>A
|
rs77663505
|
0.03428
|
NM_133642.5(LARGE1):c.*207G>A
|
rs16992036
|
0.03294
|
NM_133642.5(LARGE1):c.1452-209T>C
|
rs79121173
|
0.02741
|
NM_133642.5(LARGE1):c.1730+118G>A
|
rs80188851
|
0.02730
|
NM_133642.5(LARGE1):c.1730+239G>A
|
rs75729506
|
0.02621
|
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=)
|
rs34292743
|
0.02604
|
NM_133642.5(LARGE1):c.576C>T (p.Pro192=)
|
rs36002910
|
0.02334
|
NM_133642.5(LARGE1):c.1451+197T>C
|
rs151150001
|
0.02220
|
NM_133642.5(LARGE1):c.*740A>G
|
rs116335813
|
0.02207
|
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=)
|
rs11913417
|
0.02196
|
NM_133642.5(LARGE1):c.1731-87G>T
|
rs11913298
|
0.02191
|
NM_133642.5(LARGE1):c.1006-280A>G
|
rs75119296
|
0.02053
|
NM_133642.5(LARGE1):c.309C>T (p.Ser103=)
|
rs59349720
|
0.01920
|
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln)
|
rs73399520
|
0.01853
|
NM_133642.5(LARGE1):c.165G>C (p.Thr55=)
|
rs63446460
|
0.01465
|
NM_133642.5(LARGE1):c.552G>A (p.Thr184=)
|
rs8142483
|
0.00887
|
NM_133642.5(LARGE1):c.2073+36C>T
|
rs41302579
|
0.00883
|
NM_133642.5(LARGE1):c.*1201A>G
|
rs11544101
|
0.00840
|
NM_133642.5(LARGE1):c.-83+63217G>C
|
rs114574565
|
0.00831
|
NM_133642.5(LARGE1):c.-31G>A
|
rs117199378
|
0.00694
|
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His)
|
rs1046166
|
0.00617
|
NM_133642.5(LARGE1):c.892+50C>T
|
rs62225294
|
0.00471
|
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala)
|
rs34642406
|
0.00430
|
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.-83+63202T>G
|
rs147343461
|
0.00215
|
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=)
|
rs113253213
|
0.00174
|
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=)
|
rs115076367
|
0.00140
|
NM_133642.5(LARGE1):c.408+8G>A
|
rs141818070
|
0.00103
|
NM_133642.5(LARGE1):c.893-17C>G
|
rs139572378
|
0.00102
|
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.1878-11G>T
|
rs200819807
|
0.00025
|
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=)
|
rs12627793
|
0.00012
|
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr)
|
rs398124184
|
0.00001
|
GRCh37/hg19 22q12.3(chr22:33698972-33706824)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33736087-33736744)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33736087-33743341)x0
|
|
|
GRCh37/hg19 22q12.3(chr22:33755901-33760604)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33763247-33771672)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33779182-33782594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33780897-33782594)x0
|
|
|
GRCh37/hg19 22q12.3(chr22:33781011-33782594)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:33904676-33915455)x3
|
|
|
GRCh37/hg19 22q12.3(chr22:33963790-33981599)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34015991-34259378)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34047444-34050747)x1
|
|
|
GRCh37/hg19 22q12.3(chr22:34087695-34148622)x1
|
|
|
NM_133642.5(LARGE1):c.-82-194_-82-192del
|
rs71667420
|
|
NM_133642.5(LARGE1):c.107-184G>C
|
rs9621741
|
|
NM_133642.5(LARGE1):c.1452-28C>T
|
rs76647066
|
|
NM_133642.5(LARGE1):c.1731-88G>T
|
rs11913299
|
|
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile)
|
rs576967464
|
|
NM_133642.5(LARGE1):c.1877+89G>A
|
rs5998842
|
|
NM_133642.5(LARGE1):c.2073+12G>A
|
rs377566674
|
|
NM_133642.5(LARGE1):c.2074-109G>A
|
rs59957248
|
|
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGA
|
rs146169927
|
|
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGAATGA
|
rs146169927
|
|
NM_133642.5(LARGE1):c.788-331_788-330insATGCGTGA
|
rs146169927
|
|
NM_133642.5(LARGE1):c.788-333ATGA[10]
|
rs10626676
|
|
NM_133642.5(LARGE1):c.788-333ATGA[8]
|
rs10626676
|
|
NM_133642.5(LARGE1):c.893-64_893-55del
|
rs150907937
|
|
NM_133642.5(LARGE1):c.897G>C (p.Val299=)
|
rs532067255
|
|
NM_133642.5(LARGE1):c.924G>A (p.Arg308=)
|
rs528836583
|
|