NM_001854.4(COL11A1):c.2295+37A>T
|
rs2622867
|
0.91369
|
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)
|
rs1676486
|
0.81716
|
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=)
|
rs1763347
|
0.64340
|
NM_001854.4(COL11A1):c.2611-19A>C
|
rs11164649
|
0.57301
|
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)
|
rs3753841
|
0.50032
|
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=)
|
rs2229783
|
0.49335
|
NM_001854.4(COL11A1):c.274+42G>C
|
rs11164662
|
0.48053
|
NM_001854.4(COL11A1):c.2656-28T>C
|
rs1903787
|
0.32791
|
NM_001854.4(COL11A1):c.3168+41T>C
|
rs1012282
|
0.29091
|
NM_001854.4(COL11A1):c.488+23G>A
|
rs6668897
|
0.14061
|
NM_001854.4(COL11A1):c.275-7T>C
|
rs12136865
|
0.14046
|
NM_001854.4(COL11A1):c.4608+18A>G
|
rs17127203
|
0.12045
|
NM_001854.4(COL11A1):c.4303-47T>C
|
rs11164634
|
0.11796
|
NM_001854.4(COL11A1):c.660T>C (p.Ile220=)
|
rs71664966
|
0.11088
|
NM_001854.4(COL11A1):c.1998+4T>A
|
rs12136577
|
0.10860
|
NM_001854.4(COL11A1):c.3978+38T>G
|
rs28648038
|
0.09396
|
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu)
|
rs11164663
|
0.08714
|
NM_001854.4(COL11A1):c.1308+19A>G
|
rs34587338
|
0.08015
|
NM_001854.4(COL11A1):c.3025-23A>T
|
rs55682104
|
0.07912
|
NM_001854.4(COL11A1):c.3168+15A>G
|
rs1012281
|
0.05717
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_001854.4(COL11A1):c.1413+18A>T
|
rs17461252
|
0.04131
|
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=)
|
rs111841420
|
0.02418
|
NM_001854.4(COL11A1):c.1944+11T>C
|
rs71664954
|
0.02235
|
NM_001854.4(COL11A1):c.651+16A>G
|
rs116303092
|
0.01555
|
NM_001854.4(COL11A1):c.3924+19C>T
|
rs77901108
|
0.01456
|
NM_001854.4(COL11A1):c.2611-4C>T
|
rs79505593
|
0.01381
|
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val)
|
rs75824519
|
0.01140
|
NM_001854.4(COL11A1):c.2097+18C>A
|
rs75124465
|
0.01139
|
NM_001854.4(COL11A1):c.3169-16T>C
|
rs76379510
|
0.00976
|
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=)
|
rs74778421
|
0.00956
|
NM_001854.4(COL11A1):c.4140+10A>T
|
rs187171126
|
0.00906
|
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala)
|
rs139064549
|
0.00897
|
NM_001854.4(COL11A1):c.3817-5T>C
|
rs201155391
|
0.00566
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=)
|
rs143606220
|
0.00382
|
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr)
|
rs150090939
|
0.00381
|
NM_001854.4(COL11A1):c.3979-14A>T
|
rs186245518
|
0.00338
|
NM_001854.4(COL11A1):c.3817-17_3817-16insC
|
rs773173330
|
0.00300
|
NM_001854.4(COL11A1):c.4416C>A (p.Asp1472Glu)
|
rs55821405
|
0.00284
|
NM_001854.4(COL11A1):c.4468A>G (p.Ile1490Val)
|
rs145901197
|
0.00274
|
NM_001854.4(COL11A1):c.4302+48A>T
|
rs114611626
|
0.00272
|
NM_001854.4(COL11A1):c.2766A>G (p.Gly922=)
|
rs139911745
|
0.00267
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln)
|
rs78046647
|
0.00233
|
NM_001854.4(COL11A1):c.2556+92T>A
|
rs550991929
|
0.00222
|
NM_001854.4(COL11A1):c.4140+13T>A
|
rs374901069
|
0.00214
|
NM_001854.4(COL11A1):c.3979-3T>C
|
rs138464908
|
0.00188
|
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser)
|
rs114630202
|
0.00174
|
NM_001854.4(COL11A1):c.3024+13T>C
|
rs201141572
|
0.00172
|
NM_001854.4(COL11A1):c.*17A>G
|
rs190728953
|
0.00152
|
NM_001854.4(COL11A1):c.3277-13A>C
|
rs371455495
|
0.00116
|
NM_001854.4(COL11A1):c.3925-16C>T
|
rs201491791
|
0.00099
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_001854.4(COL11A1):c.4701T>C (p.Asp1567=)
|
rs138691968
|
0.00097
|
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu)
|
rs183130583
|
0.00088
|
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=)
|
rs143651470
|
0.00070
|
NM_001854.4(COL11A1):c.3384+18G>A
|
rs200425985
|
0.00066
|
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)
|
rs149526015
|
0.00039
|
NM_001854.4(COL11A1):c.990+7C>T
|
rs137867554
|
0.00036
|
NM_001854.4(COL11A1):c.-50A>G
|
rs369810404
|
0.00026
|
NM_001854.4(COL11A1):c.898-15T>C
|
rs200242905
|
0.00024
|
NM_001854.4(COL11A1):c.2295+6G>A
|
rs372529718
|
0.00016
|
NM_001854.4(COL11A1):c.4032+18T>C
|
rs190625412
|
0.00015
|
NM_001854.4(COL11A1):c.3447C>T (p.Pro1149=)
|
rs141432979
|
0.00014
|
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile)
|
rs369925361
|
0.00012
|
NM_001854.4(COL11A1):c.3438+11T>C
|
rs765352070
|
0.00011
|
NM_001854.4(COL11A1):c.4935T>C (p.Gly1645=)
|
rs369265343
|
0.00011
|
NM_001854.4(COL11A1):c.3600+8G>A
|
rs188045535
|
0.00006
|
NM_001854.4(COL11A1):c.1683+20C>G
|
rs373143275
|
0.00005
|
NM_001854.4(COL11A1):c.2656-20T>C
|
rs886038501
|
0.00004
|
NM_001854.4(COL11A1):c.275-14C>T
|
rs370321983
|
0.00004
|
NM_001854.4(COL11A1):c.2916+3A>G
|
rs200515572
|
0.00004
|
NM_001854.4(COL11A1):c.4141-8T>A
|
rs373760183
|
0.00004
|
NM_001854.4(COL11A1):c.4608+34A>G
|
rs199597559
|
0.00004
|
NM_001854.4(COL11A1):c.1245C>T (p.Ser415=)
|
rs371490794
|
0.00003
|
NM_001854.4(COL11A1):c.1998+11C>T
|
rs375664445
|
0.00003
|
NM_001854.4(COL11A1):c.5385C>T (p.Phe1795=)
|
rs770392400
|
0.00003
|
NM_001854.4(COL11A1):c.1309-7G>A
|
rs748684225
|
0.00002
|
NM_001854.4(COL11A1):c.3025-6C>T
|
rs780046337
|
0.00002
|
NM_001854.4(COL11A1):c.1899+16T>G
|
rs767808576
|
0.00001
|
NM_001854.4(COL11A1):c.2556+14A>G
|
rs1365339245
|
0.00001
|
NM_001854.4(COL11A1):c.2557-14T>C
|
rs546175264
|
0.00001
|
NM_001854.4(COL11A1):c.2808+14C>G
|
rs1015791965
|
0.00001
|
NM_001854.4(COL11A1):c.3402G>A (p.Pro1134=)
|
rs763588142
|
0.00001
|
NM_001854.4(COL11A1):c.4609-8C>A
|
rs777390779
|
0.00001
|
NM_001854.4(COL11A1):c.4859-19A>G
|
rs146179957
|
0.00001
|
NM_001854.4(COL11A1):c.990+11T>G
|
rs750665036
|
0.00001
|
NM_001854.4(COL11A1):c.990+8G>A
|
rs756299328
|
0.00001
|
GRCh37/hg19 1p21.1(chr1:103401032-103511235)
|
|
|
GRCh37/hg19 1p21.1(chr1:103474885-103519961)
|
|
|
NM_001854.4(COL11A1):c.106+8A>G
|
|
|
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile)
|
rs141817156
|
|
NM_001854.4(COL11A1):c.1309-4A>T
|
|
|
NM_001854.4(COL11A1):c.1573-15T>C
|
rs772291375
|
|
NM_001854.4(COL11A1):c.1635G>A (p.Gly545=)
|
rs746478999
|
|
NM_001854.4(COL11A1):c.1792-17T>C
|
rs2101851501
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[8]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1792-39ATG[9]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.1945-19C>T
|
rs1571000550
|
|
NM_001854.4(COL11A1):c.2040C>T (p.Asn680=)
|
rs530187653
|
|
NM_001854.4(COL11A1):c.2143-10dup
|
rs747240373
|
|
NM_001854.4(COL11A1):c.2196+11G>A
|
rs1664814779
|
|
NM_001854.4(COL11A1):c.2196+17T>C
|
|
|
NM_001854.4(COL11A1):c.2197-10C>T
|
rs1057521170
|
|
NM_001854.4(COL11A1):c.2296-19C>T
|
rs776330050
|
|
NM_001854.4(COL11A1):c.2340+9_2340+13del
|
rs374301870
|
|
NM_001854.4(COL11A1):c.2394+12G>T
|
|
|
NM_001854.4(COL11A1):c.2656-12T>C
|
rs769091234
|
|
NM_001854.4(COL11A1):c.2656-4G>T
|
rs1553224423
|
|
NM_001854.4(COL11A1):c.2739C>T (p.Gly913=)
|
rs1553224335
|
|
NM_001854.4(COL11A1):c.275-17del
|
rs3841819
|
|
NM_001854.4(COL11A1):c.2809-19T>C
|
|
|
NM_001854.4(COL11A1):c.2864G>C (p.Gly955Ala)
|
|
|
NM_001854.4(COL11A1):c.3168+9G>A
|
rs1553218164
|
|
NM_001854.4(COL11A1):c.3294A>G (p.Gln1098=)
|
rs1553210866
|
|
NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His)
|
rs2101304072
|
|
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=)
|
rs17127270
|
|
NM_001854.4(COL11A1):c.3495A>G (p.Gly1165=)
|
rs1553208812
|
|
NM_001854.4(COL11A1):c.3817-13del
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.3979-10C>T
|
rs1553200898
|
|
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp)
|
rs778331804
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.651+14C>T
|
rs1553252290
|
|
NM_001854.4(COL11A1):c.652-11_652-10insTTG
|
rs776283234
|
|
NM_001854.4(COL11A1):c.652-17T>G
|
rs555770298
|
|
NM_001854.4(COL11A1):c.652-18_652-16dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6del
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-7_652-6dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.81C>T (p.Leu27=)
|
rs1027288806
|
|
NM_001854.4(COL11A1):c.828A>T (p.Ala276=)
|
rs764926559
|
|
NM_001854.4(COL11A1):c.991-14del
|
rs768258098
|
|