NM_001848.3(COL6A1):c.1003-61T>G
|
rs1980981
|
0.99242
|
NM_001848.3(COL6A1):c.1776+188T>C
|
rs8126900
|
0.92707
|
NM_001848.3(COL6A1):c.1776+164G>A
|
rs73908116
|
0.91302
|
NM_001848.3(COL6A1):c.1776+141A>G
|
rs8131632
|
0.90896
|
NM_001848.3(COL6A1):c.1525-60A>G
|
rs3737437
|
0.89527
|
NM_001848.3(COL6A1):c.1611+217T>C
|
rs4818811
|
0.88601
|
NM_001848.3(COL6A1):c.*260A>G
|
rs1053331
|
0.88428
|
NM_001848.3(COL6A1):c.1822+88A>G
|
rs7276782
|
0.88358
|
NM_001848.3(COL6A1):c.1335+27A>C
|
rs2850173
|
0.88231
|
NM_001848.3(COL6A1):c.1777-229G>A
|
rs35900642
|
0.87805
|
NM_001848.3(COL6A1):c.1822+185C>T
|
rs7276374
|
0.87696
|
NM_001848.3(COL6A1):c.1823-196A>G
|
rs7277078
|
0.87692
|
NM_001848.3(COL6A1):c.1776+91C>T
|
rs8131101
|
0.87067
|
NM_001848.3(COL6A1):c.98-320dup
|
rs72562356
|
0.85449
|
NM_001848.3(COL6A1):c.1336-152G>T
|
rs2850174
|
0.78788
|
NM_001848.3(COL6A1):c.1776+174G>A
|
rs8130255
|
0.76171
|
NM_001848.3(COL6A1):c.858+188G>C
|
rs2277813
|
0.68598
|
NM_001848.3(COL6A1):c.1399-129A>G
|
rs11701583
|
0.54266
|
NM_001848.3(COL6A1):c.2434+88C>T
|
rs2236488
|
0.51956
|
NM_001848.3(COL6A1):c.858+62C>T
|
rs8129814
|
0.51564
|
NM_001848.3(COL6A1):c.1822+80G>A
|
rs7283989
|
0.51414
|
NM_001848.3(COL6A1):c.2251-29C>T
|
rs35796750
|
0.50435
|
NM_001848.3(COL6A1):c.1399-32T>C
|
rs2839077
|
0.49659
|
NM_001848.3(COL6A1):c.1462-36A>G
|
rs2276255
|
0.35129
|
NM_001848.3(COL6A1):c.1675-55C>T
|
rs4819179
|
0.34598
|
NM_001848.3(COL6A1):c.739-51C>T
|
rs62215498
|
0.32957
|
NM_001848.3(COL6A1):c.1957-78G>A
|
rs8131313
|
0.31839
|
NM_001848.3(COL6A1):c.2465-72C>T
|
rs59769541
|
0.31617
|
NM_001848.3(COL6A1):c.1822+42G>C
|
rs13053065
|
0.31288
|
NM_001848.3(COL6A1):c.1740+145G>T
|
rs13048481
|
0.31167
|
NM_001848.3(COL6A1):c.1957-82C>T
|
rs8132377
|
0.31077
|
NM_001848.3(COL6A1):c.1813+137C>T
|
rs4818812
|
0.30942
|
NM_001848.3(COL6A1):c.1822+231G>A
|
rs11700421
|
0.30100
|
NM_001848.3(COL6A1):c.1335+116C>T
|
rs2075893
|
0.29808
|
NM_001848.3(COL6A1):c.2434+55G>A
|
rs2236487
|
0.29790
|
NM_001848.3(COL6A1):c.1776+182_1776+183insA
|
rs796136319
|
0.26238
|
NM_001848.3(COL6A1):c.1273-151G>A
|
rs760438
|
0.23365
|
NM_001848.3(COL6A1):c.228-140G>C
|
rs3746992
|
0.19823
|
NM_001848.3(COL6A1):c.1002+55T>C
|
rs867427345
|
0.18016
|
NM_001848.3(COL6A1):c.805-208G>C
|
rs2839076
|
0.16329
|
NM_001848.3(COL6A1):c.1273-138G>A
|
rs760439
|
0.15757
|
NM_001848.3(COL6A1):c.1576-78G>C
|
rs11700844
|
0.14347
|
NM_001848.3(COL6A1):c.98-214C>T
|
rs62215496
|
0.13611
|
NM_001848.3(COL6A1):c.1741-51G>A
|
rs75434097
|
0.13563
|
NM_001848.3(COL6A1):c.1399-111A>G
|
rs9979532
|
0.13443
|
NM_001848.3(COL6A1):c.1119+261G>A
|
rs55726338
|
0.11645
|
NM_001848.3(COL6A1):c.1002+43_1002+50del
|
rs774756547
|
0.09367
|
NM_001848.3(COL6A1):c.1119+209A>G
|
rs111557860
|
0.09143
|
NM_001848.3(COL6A1):c.1119+189T>C
|
rs10154031
|
0.08142
|
NM_001848.3(COL6A1):c.1002+77C>T
|
rs536918340
|
0.06918
|
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn)
|
rs11553519
|
0.05277
|
NM_001848.3(COL6A1):c.428+40G>A
|
rs71324475
|
0.05102
|
NM_001848.3(COL6A1):c.1398+120T>C
|
rs116524164
|
0.03376
|
NM_001848.3(COL6A1):c.589-57G>A
|
rs138916267
|
0.02777
|
NM_001848.3(COL6A1):c.1398+28G>A
|
rs114600249
|
0.02409
|
NM_001848.3(COL6A1):c.1399-246C>T
|
rs115807593
|
0.01905
|
NM_001848.3(COL6A1):c.1335+185T>C
|
rs116133651
|
0.01861
|
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr)
|
rs138884734
|
0.01280
|
NM_001848.3(COL6A1):c.1740+50C>T
|
rs148205490
|
0.00926
|
NM_001848.3(COL6A1):c.3054C>T (p.His1018=)
|
rs141237809
|
0.00680
|
NM_001848.3(COL6A1):c.588+37A>G
|
rs117470181
|
0.00672
|
NM_001848.3(COL6A1):c.1119+39C>T
|
rs74982956
|
0.00527
|
NM_001848.3(COL6A1):c.777G>A (p.Pro259=)
|
rs61735854
|
0.00491
|
NM_001848.3(COL6A1):c.579C>T (p.Pro193=)
|
rs61751027
|
0.00488
|
NM_001848.3(COL6A1):c.1056C>T (p.Asp352=)
|
rs116343553
|
0.00426
|
NM_001848.3(COL6A1):c.1813+25T>G
|
rs191946565
|
0.00394
|
NM_001848.3(COL6A1):c.2130G>A (p.Thr710=)
|
rs147219060
|
0.00252
|
NM_001848.3(COL6A1):c.2220G>A (p.Pro740=)
|
rs138976133
|
0.00134
|
NM_001848.3(COL6A1):c.2865C>T (p.Ile955=)
|
rs138062080
|
0.00131
|
GRCh37/hg19 21q22.3(chr21:47402620-47465205)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47417303-47426252)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47421947-47427839)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:47423636-47427839)x1
|
|
|
NM_001848.3(COL6A1):c.1002+145C>T
|
rs78836670
|
|
NM_001848.3(COL6A1):c.1002+90del
|
rs145398932
|
|
NM_001848.3(COL6A1):c.1399-175_1399-163del
|
rs58559163
|
|
NM_001848.3(COL6A1):c.1399-272_1399-210del
|
rs1569518630
|
|
NM_001848.3(COL6A1):c.1461+41dup
|
rs3216137
|
|
NM_001848.3(COL6A1):c.1612-80dup
|
rs141212516
|
|
NM_001848.3(COL6A1):c.1776+107dup
|
rs11464071
|
|
NM_001848.3(COL6A1):c.1776+173_1776+174insAGATCATAGGGGGACGTGTGA
|
rs1189768702
|
|
NM_001848.3(COL6A1):c.1776+198C>T
|
rs8131227
|
|
NM_001848.3(COL6A1):c.1814-106_1814-90del
|
rs58200969
|
|
NM_001848.3(COL6A1):c.1814-108_1814-92del
|
rs200069109
|
|
NM_001848.3(COL6A1):c.1814-147_1814-140del
|
rs139447078
|
|
NM_001848.3(COL6A1):c.1814-6C>G
|
rs182804464
|
|
NM_001848.3(COL6A1):c.1822+45C>G
|
rs7276098
|
|
NM_001848.3(COL6A1):c.1822+45C>T
|
rs7276098
|
|
NM_001848.3(COL6A1):c.1823-13C>T
|
rs571173076
|
|
NM_001848.3(COL6A1):c.1823-199G>T
|
rs146010507
|
|
NM_001848.3(COL6A1):c.2464+70C>G
|
rs2236489
|
|
NM_001848.3(COL6A1):c.428+213AGAGAC[3]
|
rs199643566
|
|
NM_001848.3(COL6A1):c.588+19dup
|
rs111710378
|
|
NM_001848.3(COL6A1):c.804+140del
|
rs66929103
|
|
NM_001848.3(COL6A1):c.931-198_931-165del
|
rs771549110
|
|
NM_001848.3(COL6A1):c.97+222_97+226dup
|
rs138847222
|
|