NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys)
|
rs764129993
|
0.00004
|
NM_001849.4(COL6A2):c.2489G>A (p.Arg830Gln)
|
rs139552940
|
0.00004
|
NM_001849.4(COL6A2):c.2627G>A (p.Arg876His)
|
rs1012567148
|
0.00004
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001849.4(COL6A2):c.2809C>T (p.Arg937Trp)
|
rs755352246
|
0.00001
|
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys)
|
rs2078408746
|
0.00001
|
NM_004369.4(COL6A3):c.1897+1G>T
|
rs1230578718
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg)
|
rs1268762655
|
0.00001
|
NM_004370.6(COL12A1):c.4418-1G>A
|
rs984784417
|
0.00001
|
NM_004370.6(COL12A1):c.5230+1G>A
|
rs1274606112
|
0.00001
|
NC_000002.11:g.238258810delG
|
rs794729205
|
|
NC_000002.12:g.(?_237362747)_(237372158_?)del
|
|
|
NC_000021.8:g.(?_47407419)_(47408291_?)del
|
|
|
NC_000021.8:g.(?_47542769)_(47546475_?)dup
|
|
|
NC_000021.8:g.(?_47545206)_(47546374_?)del
|
|
|
NM_001848.3(COL6A1):c.1027_1056+76del
|
rs2123473096
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
NM_001848.3(COL6A1):c.1056+4A>G
|
rs886043433
|
|
NM_001848.3(COL6A1):c.1056+5G>T
|
rs886044511
|
|
NM_001848.3(COL6A1):c.1111G>A (p.Gly371Arg)
|
|
|
NM_001848.3(COL6A1):c.1112G>A (p.Gly371Glu)
|
rs2077774072
|
|
NM_001848.3(COL6A1):c.1138G>A (p.Gly380Arg)
|
|
|
NM_001848.3(COL6A1):c.1335+2_1335+3del
|
|
|
NM_001848.3(COL6A1):c.1398+2T>G
|
rs1569518481
|
|
NM_001848.3(COL6A1):c.1524+1G>A
|
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.1576-1G>A
|
rs112814811
|
|
NM_001848.3(COL6A1):c.1576-2A>G
|
|
|
NM_001848.3(COL6A1):c.1576-2_1576-1del
|
rs1569518725
|
|
NM_001848.3(COL6A1):c.1674+1G>A
|
rs2123484131
|
|
NM_001848.3(COL6A1):c.1823-1G>T
|
rs1569519030
|
|
NM_001848.3(COL6A1):c.2066+2T>C
|
rs2077849329
|
|
NM_001848.3(COL6A1):c.2330_2351dup (p.Leu786fs)
|
rs2123490954
|
|
NM_001848.3(COL6A1):c.2435-2A>G
|
rs940473416
|
|
NM_001848.3(COL6A1):c.738+1G>T
|
rs2077744287
|
|
NM_001848.3(COL6A1):c.748_805-704del
|
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001848.3(COL6A1):c.788G>T (p.Gly263Val)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.805-2A>T
|
rs398123639
|
|
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly)
|
rs1569518070
|
|
NM_001848.3(COL6A1):c.842_858+7del
|
rs2077759485
|
|
NM_001848.3(COL6A1):c.846_854del (p.Glu282_Gly284del)
|
rs1556425474
|
|
NM_001848.3(COL6A1):c.859-1G>C
|
rs1556425531
|
|
NM_001848.3(COL6A1):c.887G>A (p.Gly296Glu)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.904-2A>G
|
rs1057519174
|
|
NM_001848.3(COL6A1):c.913G>C (p.Gly305Arg)
|
rs1469287281
|
|
NM_001848.3(COL6A1):c.928_930+23del
|
|
|
NM_001848.3(COL6A1):c.930+1G>T
|
rs886042902
|
|
NM_001848.3(COL6A1):c.957+6C>G
|
rs374926748
|
|
NM_001848.3(COL6A1):c.957_957+7del
|
rs1556425687
|
|
NM_001848.3(COL6A1):c.971_979del (p.Lys324_Gly326del)
|
rs2123472068
|
|
NM_001848.3(COL6A1):c.98-2_103del
|
rs1556423703
|
|
NM_001848.3:c.19dup
|
|
|
NM_001849.4(COL6A2):c.1000-13_1030del
|
rs1555873353
|
|
NM_001849.4(COL6A2):c.1054-2A>G
|
rs886044023
|
|
NM_001849.4(COL6A2):c.1055delG
|
rs1555873507
|
|
NM_001849.4(COL6A2):c.1179+1G>A
|
rs2078514224
|
|
NM_001849.4(COL6A2):c.1180-1G>A
|
|
|
NM_001849.4(COL6A2):c.1180-2A>G
|
rs1601232289
|
|
NM_001849.4(COL6A2):c.1269_1270insCATCATCCCTCTACATTTTTTAACCAAATCAACAACAACCTATTTAGCTGTTCCCCAACCTTTTCCTCCGACAGCCG (p.Gly424fs)
|
|
|
NM_001849.4(COL6A2):c.1275_1282del (p.Arg426fs)
|
|
|
NM_001849.4(COL6A2):c.1382dup (p.Asn461fs)
|
|
|
NM_001849.4(COL6A2):c.1459-2_1459-1del
|
|
|
NM_001849.4(COL6A2):c.1522-1G>C
|
|
|
NM_001849.4(COL6A2):c.1671+1G>T
|
|
|
NM_001849.4(COL6A2):c.1770+1G>A
|
rs752803039
|
|
NM_001849.4(COL6A2):c.1770+2T>C
|
|
|
NM_001849.4(COL6A2):c.1806C>A (p.Cys602Ter)
|
rs751987553
|
|
NM_001849.4(COL6A2):c.1817-2A>G
|
rs111697581
|
|
NM_001849.4(COL6A2):c.1817-3_1817-2del
|
rs1491048605
|
|
NM_001849.4(COL6A2):c.1861G>C (p.Asp621His)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.1868C>T (p.Ser623Phe)
|
rs2123661865
|
|
NM_001849.4(COL6A2):c.1969+1G>T
|
|
|
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn)
|
rs786205642
|
|
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val)
|
rs1085307668
|
|
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)
|
rs863224861
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
|
|
|
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
|
|
|
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
|
rs983938730
|
|
NM_001849.4(COL6A2):c.543_735+396del
|
rs2078415602
|
|
NM_001849.4(COL6A2):c.735+9_784del
|
|
|
NM_001849.4(COL6A2):c.784G>T (p.Gly262Cys)
|
rs2123620765
|
|
NM_001849.4(COL6A2):c.785G>T (p.Gly262Val)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.801G>A (p.Lys267=)
|
rs2078439012
|
|
NM_001849.4(COL6A2):c.802-2A>G
|
rs886044399
|
|
NM_001849.4(COL6A2):c.802G>C (p.Gly268Arg)
|
rs2123625485
|
|
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)
|
rs397515333
|
|
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.855+1G>T
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg)
|
rs2123626018
|
|
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)
|
rs1555872873
|
|
NM_001849.4(COL6A2):c.901-3C>G
|
rs112317259
|
|
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val)
|
rs727502832
|
|
NM_001849.4(COL6A2):c.927+5G>A
|
|
|
NM_001849.4(COL6A2):c.954+1G>C
|
rs2123628251
|
|
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.955-3_955-1delinsAA
|
rs1568929639
|
|
NM_001849.4(COL6A2):c.999+9_1053+32del
|
rs2078478648
|
|
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
|
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.3071-1G>A
|
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
NM_004369.4(COL6A3):c.4286-2A>C
|
|
|
NM_004369.4(COL6A3):c.4286-2A>G
|
rs761453030
|
|
NM_004369.4(COL6A3):c.4950_4963del (p.Arg1651fs)
|
|
|
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg)
|
rs2106350905
|
|
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
|
|
|
NM_004369.4(COL6A3):c.5838+1G>T
|
rs1559234260
|
|
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg)
|
rs1559229322
|
|
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)
|
rs886041329
|
|
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)
|
rs397515332
|
|
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs)
|
rs1574976615
|
|
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
|
|
|
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg)
|
rs1553553625
|
|
NM_004369.4(COL6A3):c.6283-2A>C
|
rs797044988
|
|
NM_004369.4(COL6A3):c.6283-326_6296del
|
rs2106341434
|
|
NM_004369.4(COL6A3):c.6309+1G>C
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
NM_004369.4(COL6A3):c.6310-28_6325del
|
rs1553553267
|
|
NM_004369.4(COL6A3):c.6320_6322del (p.Gly2107del)
|
rs1559225974
|
|
NM_004369.4(COL6A3):c.6409-1G>C
|
|
|
NM_004369.4(COL6A3):c.6787C>T (p.Arg2263Ter)
|
rs748966916
|
|
NM_004369.4(COL6A3):c.6967-2A>G
|
|
|
NM_004369.4(COL6A3):c.6967G>A (p.Gly2323Ser)
|
|
|
NM_004369.4(COL6A3):c.7162+1G>A
|
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
NM_004369.4(COL6A3):c.7331G>C (p.Arg2444Pro)
|
rs895701604
|
|
NM_004369.4(COL6A3):c.7669-2del
|
rs764193290
|
|
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter)
|
rs2076974450
|
|
NM_004369.4(COL6A3):c.9230-1G>A
|
|
|
NM_004370.6(COL12A1):c.3715+1G>T
|
|
|
NM_004370.6(COL12A1):c.395-2A>C
|
rs1562310723
|
|
NM_004370.6(COL12A1):c.4240C>T (p.Arg1414Ter)
|
rs1767310072
|
|
NM_004370.6(COL12A1):c.4417+2_4417+3del
|
|
|
NM_004370.6(COL12A1):c.5097+1G>A
|
|
|
NM_004370.6(COL12A1):c.5664+1G>A
|
rs1766437216
|
|
NM_004370.6(COL12A1):c.5765G>A (p.Gly1922Glu)
|
rs1766404539
|
|
NM_004370.6(COL12A1):c.5795-2A>C
|
|
|
NM_004370.6(COL12A1):c.6067+1G>A
|
rs1766265062
|
|
NM_004370.6(COL12A1):c.6724+1G>C
|
|
|
NM_004370.6(COL12A1):c.6872-2A>G
|
rs2149372690
|
|
NM_004370.6(COL12A1):c.7001T>C (p.Ile2334Thr)
|
rs796052093
|
|
NM_004370.6(COL12A1):c.73+1G>A
|
|
|
NM_004370.6(COL12A1):c.7697+1G>C
|
|
|
NM_004370.6(COL12A1):c.8101-1G>T
|
rs2149349312
|
|
NM_004370.6(COL12A1):c.8179-2A>G
|
rs1768495540
|
|
NM_004370.6(COL12A1):c.8258G>A (p.Gly2753Asp)
|
rs1768488927
|
|
NM_004370.6(COL12A1):c.8265+1G>A
|
rs2149347624
|
|
NM_004370.6(COL12A1):c.8319+1G>C
|
rs1768416586
|
|
NM_004370.6(COL12A1):c.8320-15_8379delinsCA
|
|
|
NM_004370.6(COL12A1):c.8360_8365delinsTCCAGGCCTCCA (p.Pro2787_Gly2789delinsLeuGlnAlaSerSer)
|
|
|
NM_004370.6(COL12A1):c.8393_8415+5del
|
rs2149344192
|
|
NM_004370.6(COL12A1):c.8415+1G>C
|
rs1768356177
|
|