NM_001848.3(COL6A1):c.1002+37A>G
|
rs11702174
|
0.05344
|
NM_001848.3(COL6A1):c.1823-31C>T
|
rs117330552
|
0.02707
|
NM_001848.3(COL6A1):c.804+163del
|
rs66912886
|
0.02472
|
NM_001848.3(COL6A1):c.2435-78G>A
|
rs76087328
|
0.02442
|
NM_001848.3(COL6A1):c.1776+249_1776+250insAA
|
rs1569518898
|
0.01693
|
NM_001848.3(COL6A1):c.859-213G>T
|
rs149709694
|
0.01565
|
NM_001848.3(COL6A1):c.1814-67_1814-66insG
|
rs145985004
|
0.01393
|
NM_001848.3(COL6A1):c.428+131C>T
|
rs111272310
|
0.01367
|
NM_001848.3(COL6A1):c.717+32C>T
|
rs114454809
|
0.01179
|
NM_001848.3(COL6A1):c.*87C>T
|
rs115289817
|
0.01156
|
NM_001848.3(COL6A1):c.1003-149C>T
|
rs146559275
|
0.01133
|
NM_001848.3(COL6A1):c.1335+164G>A
|
rs143550568
|
0.01034
|
NM_001848.3(COL6A1):c.*294G>A
|
rs112057581
|
0.01013
|
NM_001848.3(COL6A1):c.429-321G>A
|
rs73374779
|
0.00991
|
NM_001848.3(COL6A1):c.1524+176C>A
|
rs9976436
|
0.00946
|
NM_001848.3(COL6A1):c.1336-184C>T
|
rs139314681
|
0.00921
|
NM_001848.3(COL6A1):c.227+239C>T
|
rs116551259
|
0.00880
|
NM_001848.3(COL6A1):c.805-36G>A
|
rs202231424
|
0.00830
|
NM_001848.3(COL6A1):c.228-57G>A
|
rs79487056
|
0.00826
|
NM_001848.3(COL6A1):c.1823-183C>T
|
rs551989316
|
0.00798
|
NM_001848.3(COL6A1):c.1822+70C>T
|
rs137917255
|
0.00783
|
NM_001848.2(COL6A1):c.-368C>T
|
rs188909662
|
0.00757
|
NM_001848.3(COL6A1):c.428+253A>G
|
rs28373239
|
0.00748
|
NM_001848.3(COL6A1):c.958-38C>T
|
rs114745673
|
0.00700
|
NM_001848.3(COL6A1):c.1398+171G>A
|
rs114591899
|
0.00684
|
NM_001848.3(COL6A1):c.429-184A>C
|
rs9983909
|
0.00663
|
NM_001848.3(COL6A1):c.429-30C>T
|
rs190029634
|
0.00621
|
NM_001848.3(COL6A1):c.429-95G>A
|
rs138191621
|
0.00585
|
NM_001848.3(COL6A1):c.2434+117G>A
|
rs148827769
|
0.00560
|
NM_001848.3(COL6A1):c.1741-137C>T
|
rs8130726
|
0.00545
|
NM_001848.3(COL6A1):c.1399-210C>T
|
rs146034711
|
0.00530
|
NM_001848.3(COL6A1):c.589-53C>A
|
rs149391064
|
0.00525
|
NM_001848.3(COL6A1):c.2435-132C>T
|
rs117583870
|
0.00523
|
NM_001848.3(COL6A1):c.228-151C>G
|
rs184515573
|
0.00500
|
NM_001848.3(COL6A1):c.1776+224_1776+225insA
|
rs1569518881
|
0.00490
|
NM_001848.3(COL6A1):c.1272+98T>C
|
rs150780004
|
0.00458
|
NM_001848.3(COL6A1):c.930+30T>C
|
rs148909683
|
0.00416
|
NM_001848.3(COL6A1):c.1335+20G>C
|
rs9306146
|
0.00401
|
NM_001848.3(COL6A1):c.1525-74C>A
|
rs147683603
|
0.00389
|
NM_001848.3(COL6A1):c.1957-199G>A
|
rs184597057
|
0.00379
|
NM_001848.3(COL6A1):c.1957-284A>G
|
rs142763700
|
0.00369
|
NM_001848.3(COL6A1):c.1814-53G>T
|
rs370649253
|
0.00365
|
NM_001848.3(COL6A1):c.2435-129C>T
|
rs376896931
|
0.00364
|
NM_001848.3(COL6A1):c.2465-78C>T
|
rs372700572
|
0.00357
|
NM_001848.3(COL6A1):c.429-276G>A
|
rs113990069
|
0.00354
|
NM_001848.3(COL6A1):c.1335+139G>A
|
rs536513841
|
0.00352
|
NM_001848.3(COL6A1):c.2742C>T (p.Thr914=)
|
rs115163637
|
0.00349
|
NM_001848.3(COL6A1):c.1956+286T>G
|
rs148511101
|
0.00344
|
NM_001848.3(COL6A1):c.1740+156C>T
|
rs578072539
|
0.00339
|
NM_001848.3(COL6A1):c.1398+236C>T
|
rs182762238
|
0.00332
|
NM_001848.3(COL6A1):c.1675-40G>A
|
rs185926965
|
0.00329
|
NM_001848.3(COL6A1):c.2435-165G>A
|
rs373480489
|
0.00321
|
NM_001848.3(COL6A1):c.1518T>C (p.Gly506=)
|
rs35134265
|
0.00313
|
NM_001848.3(COL6A1):c.1182+3G>A
|
rs62215499
|
0.00310
|
NM_001848.3(COL6A1):c.2465-61C>T
|
rs367659906
|
0.00302
|
NM_001848.3(COL6A1):c.2067-10T>C
|
rs200727020
|
0.00299
|
NM_001848.3(COL6A1):c.1612-6C>T
|
rs143812383
|
0.00296
|
NC_000021.9:g.45981727G>A
|
rs538198495
|
0.00219
|
NM_001848.3(COL6A1):c.1298G>A (p.Arg433Gln)
|
rs151158105
|
0.00200
|
NM_001848.3(COL6A1):c.2250+6G>C
|
rs202212586
|
0.00195
|
NM_001848.3(COL6A1):c.324C>T (p.Gly108=)
|
rs138646508
|
0.00194
|
NM_001848.3(COL6A1):c.1336-15C>T
|
rs201003020
|
0.00174
|
NM_001848.3(COL6A1):c.1833C>T (p.Cys611=)
|
rs142554239
|
0.00167
|
NM_001848.3(COL6A1):c.2517C>T (p.Ser839=)
|
rs141463437
|
0.00163
|
NM_001848.3(COL6A1):c.588+8C>G
|
rs398123638
|
0.00144
|
NM_001848.3(COL6A1):c.105C>G (p.Pro35=)
|
rs145579577
|
0.00143
|
NM_001848.3(COL6A1):c.1644C>T (p.Asp548=)
|
rs182425338
|
0.00140
|
NM_001848.3(COL6A1):c.1776C>T (p.Asp592=)
|
rs148439285
|
0.00135
|
NM_001848.3(COL6A1):c.2049C>T (p.Asn683=)
|
rs143695871
|
0.00132
|
NM_001848.3(COL6A1):c.2469G>A (p.Thr823=)
|
rs146662894
|
0.00112
|
NM_001848.3(COL6A1):c.2758C>T (p.Leu920=)
|
rs141620374
|
0.00110
|
NM_001848.3(COL6A1):c.1336-17G>A
|
rs185337381
|
0.00103
|
NM_001848.3(COL6A1):c.2642C>T (p.Thr881Met)
|
rs150432347
|
0.00081
|
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala)
|
rs138899581
|
0.00080
|
NM_001848.3(COL6A1):c.381C>T (p.Thr127=)
|
rs75180385
|
0.00078
|
NM_001848.3(COL6A1):c.981C>T (p.Ile327=)
|
rs138401567
|
0.00068
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_001848.3(COL6A1):c.997G>A (p.Val333Met)
|
rs201525908
|
0.00052
|
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=)
|
rs144887329
|
0.00051
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=)
|
rs369502543
|
0.00034
|
NM_001848.3(COL6A1):c.1675-16C>T
|
rs200659458
|
0.00033
|
NM_001848.3(COL6A1):c.666C>T (p.Arg222=)
|
rs372581026
|
0.00032
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=)
|
rs143755280
|
0.00026
|
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=)
|
rs140427635
|
0.00025
|
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=)
|
rs200124802
|
0.00020
|
NM_001848.3(COL6A1):c.3034C>T (p.Leu1012=)
|
rs150509473
|
0.00017
|
NM_001848.3(COL6A1):c.1398+10G>A
|
rs143438559
|
0.00016
|
NM_001848.3(COL6A1):c.1475C>T (p.Ala492Val)
|
rs117340427
|
0.00016
|
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=)
|
rs369802454
|
0.00014
|
NM_001848.3(COL6A1):c.3078G>A (p.Ala1026=)
|
rs190043330
|
0.00014
|
NM_001848.3(COL6A1):c.348C>T (p.Ser116=)
|
rs189444981
|
0.00014
|
NM_001848.3(COL6A1):c.1461+34C>G
|
rs571928860
|
0.00013
|
NM_001848.3(COL6A1):c.1462-19G>A
|
rs191393017
|
0.00011
|
NM_001848.3(COL6A1):c.2622G>A (p.Ala874=)
|
rs371763977
|
0.00011
|
NM_001848.3(COL6A1):c.227+15C>T
|
rs199730779
|
0.00009
|
NM_001848.3(COL6A1):c.2464+9C>T
|
rs368651226
|
0.00008
|
NM_001848.3(COL6A1):c.1462-8C>T
|
rs199849694
|
0.00006
|
NM_001848.3(COL6A1):c.2348G>A (p.Arg783Gln)
|
rs200261890
|
0.00006
|
NM_001848.3(COL6A1):c.1119+13C>T
|
rs199655304
|
0.00004
|
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=)
|
rs377213930
|
0.00004
|
NM_001848.3(COL6A1):c.1957-17C>T
|
rs370007363
|
0.00004
|
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=)
|
rs760649238
|
0.00004
|
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=)
|
rs780032842
|
0.00004
|
NM_001848.3(COL6A1):c.510G>A (p.Gly170=)
|
rs373970248
|
0.00004
|
NM_001848.3(COL6A1):c.588+9C>T
|
rs776935888
|
0.00004
|
NM_001848.3(COL6A1):c.1272+11C>T
|
rs371785147
|
0.00003
|
NM_001848.3(COL6A1):c.1611+9G>A
|
rs186975997
|
0.00002
|
NM_001848.3(COL6A1):c.1941G>A (p.Arg647=)
|
rs139914666
|
0.00002
|
NM_001848.3(COL6A1):c.859-18T>A
|
rs398123641
|
0.00002
|
NM_001848.3(COL6A1):c.1236+14C>T
|
rs372483312
|
0.00001
|
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=)
|
rs745847824
|
0.00001
|
NM_001848.3(COL6A1):c.2298A>G (p.Ser766=)
|
rs761665024
|
0.00001
|
NM_001848.3(COL6A1):c.2505C>T (p.Asp835=)
|
rs569497612
|
0.00001
|
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=)
|
rs527265374
|
0.00001
|
NM_001848.3(COL6A1):c.615G>A (p.Thr205=)
|
rs192125814
|
0.00001
|
NC_000021.9:g.45981584G>C
|
rs933667986
|
|
NC_000021.9:g.45981589G>C
|
rs982382690
|
|
NC_000021.9:g.45981594T>C
|
rs1203435796
|
|
NC_000021.9:g.45981599T>C
|
rs1295578181
|
|
NC_000021.9:g.45981609C>A
|
rs186342882
|
|
NM_001848.3(COL6A1):c.1002+50C>A
|
rs11702079
|
|
NM_001848.3(COL6A1):c.1119+19del
|
rs750949530
|
|
NM_001848.3(COL6A1):c.1336-288G>A
|
rs142493024
|
|
NM_001848.3(COL6A1):c.1524+112G>A
|
rs139252296
|
|
NM_001848.3(COL6A1):c.1524+19G>A
|
rs2276256
|
|
NM_001848.3(COL6A1):c.1776+173_1776+174insAGATCATAGGGGGAACGTGTGA
|
rs1189768702
|
|
NM_001848.3(COL6A1):c.1776+223_1776+224insA
|
rs879057227
|
|
NM_001848.3(COL6A1):c.1777-282del
|
rs1466813683
|
|
NM_001848.3(COL6A1):c.1777-282dup
|
rs1466813683
|
|
NM_001848.3(COL6A1):c.1887G>A (p.Gln629=)
|
rs1447613750
|
|
NM_001848.3(COL6A1):c.2066+15C>A
|
rs201407082
|
|
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=)
|
rs138976133
|
|
NM_001848.3(COL6A1):c.2250+19G>C
|
rs1057521436
|
|
NM_001848.3(COL6A1):c.227+157_227+225dup
|
rs2123460524
|
|
NM_001848.3(COL6A1):c.2434+116_2434+156del
|
rs1390650817
|
|
NM_001848.3(COL6A1):c.2434+15_2434+54del
|
rs1064795349
|
|
NM_001848.3(COL6A1):c.2464+70C>T
|
rs2236489
|
|
NM_001848.3(COL6A1):c.423C>A (p.Leu141=)
|
rs373486149
|
|
NM_001848.3(COL6A1):c.428+39C>G
|
rs148766287
|
|
NM_001848.3(COL6A1):c.739-11del
|
rs573196191
|
|
NM_001848.3(COL6A1):c.760-11C>T
|
rs1556425140
|
|
NM_001848.3(COL6A1):c.804+139_804+162del
|
rs1187271844
|
|
NM_001848.3(COL6A1):c.930+20G>C
|
rs765683206
|
|
NM_001848.3(COL6A1):c.931-103G>A
|
rs73374789
|
|
NM_001848.3(COL6A1):c.97+167C>G
|
rs529329294
|
|
NM_001848.3(COL6A1):c.98-239C>G
|
rs149338636
|
|