NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_004369.4(COL6A3):c.2162C>G (p.Ser721Ter)
|
rs377632042
|
0.00004
|
NM_004369.4(COL6A3):c.8966-1G>C
|
rs767517186
|
0.00004
|
NM_001849.4(COL6A2):c.1461del (p.Ser488fs)
|
rs398123645
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_001849.4(COL6A2):c.115+2T>C
|
rs770842374
|
0.00002
|
NM_001849.4(COL6A2):c.1496G>A (p.Gly499Glu)
|
rs886042332
|
0.00002
|
NM_001849.4(COL6A2):c.954+5G>C
|
rs750755566
|
0.00002
|
NM_001848.3(COL6A1):c.244C>T (p.Arg82Ter)
|
rs1422385556
|
0.00001
|
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)
|
rs374669775
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_001849.4(COL6A2):c.2611G>A (p.Asp871Asn)
|
rs387906610
|
0.00001
|
NM_001849.4(COL6A2):c.2851_2852del (p.Val951fs)
|
rs762385362
|
0.00001
|
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)
|
rs755382829
|
0.00001
|
NM_004369.4(COL6A3):c.2362C>T (p.Gln788Ter)
|
rs948586287
|
0.00001
|
NM_004369.4(COL6A3):c.4366C>T (p.Arg1456Ter)
|
rs781043870
|
0.00001
|
NM_004369.4(COL6A3):c.5950C>T (p.Arg1984Ter)
|
rs771941724
|
0.00001
|
NM_004369.4(COL6A3):c.6604C>T (p.Arg2202Ter)
|
rs774115247
|
0.00001
|
NM_004369.4(COL6A3):c.7502G>A (p.Arg2501His)
|
rs541928674
|
0.00001
|
NM_004369.4(COL6A3):c.76C>T (p.Gln26Ter)
|
rs763187844
|
0.00001
|
GRCh38/hg38 21q22.3(chr21:46111353-46119948)x1
|
|
|
NC_000002.11:g.(?_236403331)_(242801596_?)del
|
|
|
NC_000002.11:g.(?_237481970)_(238305470_?)del
|
|
|
NC_000002.12:g.(?_237358501)_(237361194_?)del
|
|
|
NC_000002.12:g.237345214del
|
|
|
NC_000021.8:g.(?_47407403)_(47407578_?)del
|
|
|
NC_000021.8:g.(?_47408988)_(47410346_?)del
|
|
|
NC_000021.8:g.(?_47422287)_(47423978_?)del
|
|
|
NC_000021.8:g.(?_47529674)_(47540994_?)del
|
|
|
NC_000021.8:g.(?_47529674)_47540994del
|
|
|
NC_000021.8:g.(?_47533070)_47584395del
|
|
|
NC_000021.8:g.(?_47536737)_(47537399_?)del
|
|
|
NC_000021.9:g.(?_45981831)_(46132572_?)del
|
|
|
NC_000021.9:g.(?_45986526)_(45987654_?)del
|
|
|
NC_000021.9:g.(?_45989064)_(45989157_?)del
|
|
|
NC_000021.9:g.(?_46111467)_(46121133_?)del
|
|
|
NC_000021.9:g.(?_46111477)_(46121123_?)del
|
|
|
NC_000021.9:g.46116773dup
|
|
|
NC_000021.9:g.46119791_46119798dup
|
|
|
NM_001848.3(COL6A1):c.1003-1G>A
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-1G>T
|
rs886043330
|
|
NM_001848.3(COL6A1):c.1003-2A>C
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
NM_001848.3(COL6A1):c.1003-2del
|
rs1556425835
|
|
NM_001848.3(COL6A1):c.1021G>T (p.Gly341Cys)
|
rs886043321
|
|
NM_001848.3(COL6A1):c.1022G>A (p.Gly341Asp)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1022G>T (p.Gly341Val)
|
rs121912935
|
|
NM_001848.3(COL6A1):c.1056+1G>A
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>C
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1G>T
|
rs398123631
|
|
NM_001848.3(COL6A1):c.1056+1del
|
rs1556425853
|
|
NM_001848.3(COL6A1):c.1056+2T>A
|
|
|
NM_001848.3(COL6A1):c.1056+2T>C
|
rs797044456
|
|
NM_001848.3(COL6A1):c.1056+2dup
|
|
|
NM_001848.3(COL6A1):c.1056+3A>C
|
rs2077772542
|
|
NM_001848.3(COL6A1):c.1056+5G>A
|
rs886044511
|
|
NM_001848.3(COL6A1):c.130_133dup (p.Ser45fs)
|
rs2077714727
|
|
NM_001848.3(COL6A1):c.1318G>T (p.Gly440Ter)
|
rs2123475539
|
|
NM_001848.3(COL6A1):c.1425del (p.Gly476fs)
|
rs878854398
|
|
NM_001848.3(COL6A1):c.148del (p.Ala49_Leu50insTer)
|
rs1556423728
|
|
NM_001848.3(COL6A1):c.1577G>T (p.Gly526Val)
|
rs121912934
|
|
NM_001848.3(COL6A1):c.1591del (p.Arg531fs)
|
rs2077819120
|
|
NM_001848.3(COL6A1):c.1724dup (p.Pro576fs)
|
rs2077824006
|
|
NM_001848.3(COL6A1):c.1738del (p.Gln580fs)
|
rs2123484530
|
|
NM_001848.3(COL6A1):c.1867_1868del (p.Ser623fs)
|
rs2123488904
|
|
NM_001848.3(COL6A1):c.1868C>G (p.Ser623Ter)
|
|
|
NM_001848.3(COL6A1):c.2431_2434+36del
|
rs759918870
|
|
NM_001848.3(COL6A1):c.2551_2562del (p.Phe851_Arg854del)
|
|
|
NM_001848.3(COL6A1):c.310_311del (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.310dup (p.Thr104fs)
|
|
|
NM_001848.3(COL6A1):c.362A>G (p.Lys121Arg)
|
rs121912936
|
|
NM_001848.3(COL6A1):c.428+1G>A
|
rs1569517717
|
|
NM_001848.3(COL6A1):c.50_51del (p.Thr17fs)
|
rs747419878
|
|
NM_001848.3(COL6A1):c.554_555del (p.Lys185fs)
|
rs1377090546
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.58C>T (p.Gln20Ter)
|
rs1603589167
|
|
NM_001848.3(COL6A1):c.739-2A>G
|
rs2123467538
|
|
NM_001848.3(COL6A1):c.751G>T (p.Glu251Ter)
|
|
|
NM_001848.3(COL6A1):c.782_789del (p.Leu261fs)
|
rs886043354
|
|
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp)
|
rs886043351
|
|
NM_001848.3(COL6A1):c.804+1G>A
|
rs1385646650
|
|
NM_001848.3(COL6A1):c.805-2A>C
|
rs398123639
|
|
NM_001848.3(COL6A1):c.805-2A>G
|
rs398123639
|
|
NM_001848.3(COL6A1):c.806G>A (p.Gly269Glu)
|
rs2077759104
|
|
NM_001848.3(COL6A1):c.811C>T (p.Arg271Ter)
|
rs1391624796
|
|
NM_001848.3(COL6A1):c.814G>C (p.Gly272Arg)
|
rs398123640
|
|
NM_001848.3(COL6A1):c.815G>A (p.Gly272Asp)
|
rs1064793840
|
|
NM_001848.3(COL6A1):c.823G>A (p.Gly275Arg)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.823G>T (p.Gly275Trp)
|
rs1556425467
|
|
NM_001848.3(COL6A1):c.824G>T (p.Gly275Val)
|
rs1556425468
|
|
NM_001848.3(COL6A1):c.833G>T (p.Gly278Val)
|
|
|
NM_001848.3(COL6A1):c.841G>A (p.Gly281Arg)
|
rs267606746
|
|
NM_001848.3(COL6A1):c.842G>A (p.Gly281Glu)
|
rs886041383
|
|
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg)
|
rs121912938
|
|
NM_001848.3(COL6A1):c.859-2A>G
|
|
|
NM_001848.3(COL6A1):c.859G>A (p.Gly287Arg)
|
rs1057521152
|
|
NM_001848.3(COL6A1):c.860G>A (p.Gly287Glu)
|
rs2077761954
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>C (p.Gly290Arg)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.868G>T (p.Gly290Trp)
|
rs121912939
|
|
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)
|
rs1603590637
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.877G>C (p.Gly293Arg)
|
rs398123643
|
|
NM_001848.3(COL6A1):c.878G>A (p.Gly293Glu)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.878G>T (p.Gly293Val)
|
rs1603590641
|
|
NM_001848.3(COL6A1):c.883_903+27delinsCAGGACCTCGGACCTGAGG
|
|
|
NM_001848.3(COL6A1):c.887G>T (p.Gly296Val)
|
rs1603590649
|
|
NM_001848.3(COL6A1):c.895G>A (p.Gly299Arg)
|
rs2077762322
|
|
NM_001848.3(COL6A1):c.896G>A (p.Gly299Glu)
|
rs398123644
|
|
NM_001848.3(COL6A1):c.903+1G>T
|
rs1569518119
|
|
NM_001848.3(COL6A1):c.903+2_903+10del
|
|
|
NM_001848.3(COL6A1):c.904-39A>G
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.905G>A (p.Gly302Glu)
|
rs1556425566
|
|
NM_001848.3(COL6A1):c.914G>A (p.Gly305Glu)
|
rs886042684
|
|
NM_001848.3(COL6A1):c.928_930del (p.Lys310del)
|
rs886043114
|
|
NM_001848.3(COL6A1):c.930+189C>T
|
rs1556425596
|
|
NM_001848.3(COL6A1):c.930+1G>A
|
rs886042902
|
|
NM_001848.3(COL6A1):c.931-1G>A
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931-1G>C
|
rs886042354
|
|
NM_001848.3(COL6A1):c.931G>T (p.Gly311Cys)
|
rs2123471915
|
|
NM_001848.3(COL6A1):c.932G>A (p.Gly311Asp)
|
rs886044231
|
|
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg)
|
rs794727059
|
|
NM_001848.3(COL6A1):c.957+1G>A
|
rs886044535
|
|
NM_001848.3(COL6A1):c.957+1G>C
|
|
|
NM_001848.3(COL6A1):c.957+2T>C
|
rs794727060
|
|
NM_001848.3(COL6A1):c.957G>A (p.Lys319=)
|
rs1057520625
|
|
NM_001848.3(COL6A1):c.958-2A>G
|
rs1556425717
|
|
NM_001848.3(COL6A1):c.958-2_958-1del
|
rs2123472064
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.1000-1G>T
|
rs1555873358
|
|
NM_001849.4(COL6A2):c.1000-2A>C
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1000-2A>G
|
rs1555873356
|
|
NM_001849.4(COL6A2):c.1053+1G>A
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1053+2T>A
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1053+2T>C
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1053+2T>G
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1059del (p.Asp354fs)
|
rs1555873508
|
|
NM_001849.4(COL6A2):c.1075dup (p.Glu359fs)
|
rs2078499771
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1249del (p.Arg417fs)
|
rs2078521344
|
|
NM_001849.4(COL6A2):c.1294A>T (p.Lys432Ter)
|
rs752730608
|
|
NM_001849.4(COL6A2):c.1327G>T (p.Glu443Ter)
|
|
|
NM_001849.4(COL6A2):c.1332+2T>C
|
rs2078532687
|
|
NM_001849.4(COL6A2):c.1437_1447del (p.Leu480fs)
|
|
|
NM_001849.4(COL6A2):c.1459-2A>G
|
rs749974929
|
|
NM_001849.4(COL6A2):c.1507C>T (p.Gln503Ter)
|
|
|
NM_001849.4(COL6A2):c.1548del (p.Tyr517fs)
|
rs2078576503
|
|
NM_001849.4(COL6A2):c.1561C>T (p.Arg521Ter)
|
rs773686174
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
NM_001849.4(COL6A2):c.1650del (p.Gly552fs)
|
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1751del (p.Pro584fs)
|
rs886044398
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1817-2A>C
|
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
NM_001849.4(COL6A2):c.1956dup (p.Lys653fs)
|
|
|
NM_001849.4(COL6A2):c.1990C>T (p.Gln664Ter)
|
|
|
NM_001849.4(COL6A2):c.2002G>T (p.Glu668Ter)
|
rs138948335
|
|
NM_001849.4(COL6A2):c.2023C>T (p.Gln675Ter)
|
rs1293736497
|
|
NM_001849.4(COL6A2):c.2096G>A (p.Gly699Asp)
|
rs863224861
|
|
NM_001849.4(COL6A2):c.2097_2098delinsTA (p.Gly700Ser)
|
rs2123663616
|
|
NM_001849.4(COL6A2):c.2098G>A (p.Gly700Ser)
|
rs794727418
|
|
NM_001849.4(COL6A2):c.2133C>A (p.Tyr711Ter)
|
rs531816975
|
|
NM_001849.4(COL6A2):c.2161C>T (p.Gln721Ter)
|
|
|
NM_001849.4(COL6A2):c.2305_2306del (p.Glu768_Ser769insTer)
|
rs2078662535
|
|
NM_001849.4(COL6A2):c.2315_2322del (p.Leu772fs)
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2341C>T (p.Gln781Ter)
|
rs2123664803
|
|
NM_001849.4(COL6A2):c.2418C>A (p.Cys806Ter)
|
|
|
NM_001849.4(COL6A2):c.2422+1G>A
|
rs113828929
|
|
NM_001849.4(COL6A2):c.2476C>T (p.Gln826Ter)
|
rs2123454401
|
|
NM_001849.4(COL6A2):c.2500_2501del (p.Ile834fs)
|
rs2123454477
|
|
NM_001849.4(COL6A2):c.2560_2569dup (p.Glu857fs)
|
rs2123454645
|
|
NM_001849.4(COL6A2):c.2572C>T (p.Gln858Ter)
|
rs1555877252
|
|
NM_001849.4(COL6A2):c.2586dup (p.Leu863fs)
|
rs2123454751
|
|
NM_001849.4(COL6A2):c.2663_2664dup (p.Gln889fs)
|
rs2123455043
|
|
NM_001849.4(COL6A2):c.2730C>A (p.Tyr910Ter)
|
|
|
NM_001849.4(COL6A2):c.2793_2821del (p.Ser931fs)
|
rs745716104
|
|
NM_001849.4(COL6A2):c.2865_2866del (p.Asp955fs)
|
|
|
NM_001849.4(COL6A2):c.288C>A (p.Tyr96Ter)
|
rs61735833
|
|
NM_001849.4(COL6A2):c.2988dup (p.Phe997fs)
|
rs1555877364
|
|
NM_001849.4(COL6A2):c.2995G>T (p.Glu999Ter)
|
rs142296092
|
|
NM_001849.4(COL6A2):c.430C>T (p.Gln144Ter)
|
|
|
NM_001849.4(COL6A2):c.439C>T (p.Gln147Ter)
|
rs2123615453
|
|
NM_001849.4(COL6A2):c.641_645del (p.Asn214fs)
|
rs1375040481
|
|
NM_001849.4(COL6A2):c.714+1G>C
|
rs2078419667
|
|
NM_001849.4(COL6A2):c.736-1G>A
|
rs1601221868
|
|
NM_001849.4(COL6A2):c.736-1G>C
|
rs1601221868
|
|
NM_001849.4(COL6A2):c.736-2A>G
|
rs1057518925
|
|
NM_001849.4(COL6A2):c.785G>A (p.Gly262Asp)
|
rs886042943
|
|
NM_001849.4(COL6A2):c.794G>A (p.Gly265Glu)
|
rs2078438903
|
|
NM_001849.4(COL6A2):c.801+1G>A
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+1G>T
|
rs794727715
|
|
NM_001849.4(COL6A2):c.801+2T>G
|
|
|
NM_001849.4(COL6A2):c.802G>A (p.Gly268Ser)
|
rs2123625485
|
|
NM_001849.4(COL6A2):c.811G>A (p.Gly271Ser)
|
rs121912940
|
|
NM_001849.4(COL6A2):c.812G>T (p.Gly271Val)
|
rs794727788
|
|
NM_001849.4(COL6A2):c.820G>A (p.Gly274Ser)
|
rs2078462673
|
|
NM_001849.4(COL6A2):c.821G>A (p.Gly274Asp)
|
rs2123625569
|
|
NM_001849.4(COL6A2):c.830del (p.Gly277fs)
|
rs1555872819
|
|
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.839G>A (p.Gly280Asp)
|
rs1568928804
|
|
NM_001849.4(COL6A2):c.847G>A (p.Gly283Arg)
|
rs267606748
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.855+1G>A
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+4_855+7del
|
rs2123625716
|
|
NM_001849.4(COL6A2):c.856-1G>T
|
|
|
NM_001849.4(COL6A2):c.856-2A>G
|
rs886044466
|
|
NM_001849.4(COL6A2):c.856G>T (p.Gly286Ter)
|
|
|
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.874G>A (p.Gly292Ser)
|
rs727502828
|
|
NM_001849.4(COL6A2):c.874G>C (p.Gly292Arg)
|
rs727502828
|
|
NM_001849.4(COL6A2):c.875G>A (p.Gly292Asp)
|
|
|
NM_001849.4(COL6A2):c.875G>T (p.Gly292Val)
|
rs794727855
|
|
NM_001849.4(COL6A2):c.884G>A (p.Gly295Glu)
|
rs2123626138
|
|
NM_001849.4(COL6A2):c.884G>T (p.Gly295Val)
|
rs2123626138
|
|
NM_001849.4(COL6A2):c.892G>C (p.Gly298Arg)
|
rs797045478
|
|
NM_001849.4(COL6A2):c.900+1G>A
|
rs886044261
|
|
NM_001849.4(COL6A2):c.900+1G>T
|
|
|
NM_001849.4(COL6A2):c.901-6_903del
|
rs2123627113
|
|
NM_001849.4(COL6A2):c.901G>A (p.Gly301Ser)
|
rs886042705
|
|
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys)
|
rs886042705
|
|
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)
|
rs1555872965
|
|
NM_001849.4(COL6A2):c.902G>T (p.Gly301Val)
|
rs1555872965
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.954G>C (p.Lys318Asn)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-1G>C
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-2del
|
rs2078477419
|
|
NM_001849.4(COL6A2):c.997A>T (p.Lys333Ter)
|
|
|
NM_001849.4(COL6A2):c.998del (p.Lys333fs)
|
rs2123628814
|
|
NM_001849.4(COL6A2):c.999+9_1053+32delinsGCTGAAGGAGGGGTGCAAACGGCCCTTACCCGGTTTCCAGGGTCTCCCTTGCAGCCTTCA
|
rs2123628848
|
|
NM_004369.4(COL6A3):c.1234C>T (p.Gln412Ter)
|
|
|
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)
|
rs121434554
|
|
NM_004369.4(COL6A3):c.1699C>T (p.Gln567Ter)
|
rs1559261557
|
|
NM_004369.4(COL6A3):c.1699_1703del (p.Gln567fs)
|
|
|
NM_004369.4(COL6A3):c.179_180del (p.Glu60fs)
|
|
|
NM_004369.4(COL6A3):c.181_182insAG (p.Phe61Ter)
|
|
|
NM_004369.4(COL6A3):c.183del (p.Leu62fs)
|
rs764524653
|
|
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter)
|
rs1574724863
|
|
NM_004369.4(COL6A3):c.1940C>A (p.Ser647Ter)
|
rs2106367443
|
|
NM_004369.4(COL6A3):c.217G>T (p.Glu73Ter)
|
|
|
NM_004369.4(COL6A3):c.2250del (p.Thr751fs)
|
|
|
NM_004369.4(COL6A3):c.2367del (p.Ile789fs)
|
rs2106366689
|
|
NM_004369.4(COL6A3):c.2431C>T (p.Gln811Ter)
|
rs1574719512
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.2620C>T (p.Arg874Ter)
|
rs1553561409
|
|
NM_004369.4(COL6A3):c.3400C>T (p.Gln1134Ter)
|
rs2106361236
|
|
NM_004369.4(COL6A3):c.3504dup (p.Asn1169fs)
|
|
|
NM_004369.4(COL6A3):c.399del (p.Ala134fs)
|
rs2106388332
|
|
NM_004369.4(COL6A3):c.4124del (p.Gln1375fs)
|
rs886042447
|
|
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)
|
rs912671116
|
|
NM_004369.4(COL6A3):c.4427_4434del (p.Gly1476fs)
|
|
|
NM_004369.4(COL6A3):c.4533del (p.Ser1512fs)
|
|
|
NM_004369.4(COL6A3):c.4744G>T (p.Glu1582Ter)
|
|
|
NM_004369.4(COL6A3):c.4899del (p.Glu1634fs)
|
rs2077607833
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
|
|
|
NM_004369.4(COL6A3):c.5311del (p.Val1771fs)
|
|
|
NM_004369.4(COL6A3):c.5480del (p.Gly1827fs)
|
rs777304794
|
|
NM_004369.4(COL6A3):c.5581A>T (p.Lys1861Ter)
|
|
|
NM_004369.4(COL6A3):c.5946dup (p.Glu1983Ter)
|
|
|
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
|
|
|
NM_004369.4(COL6A3):c.6114dup (p.Gln2039fs)
|
rs2106344225
|
|
NM_004369.4(COL6A3):c.6156+1G>A
|
rs1553554298
|
|
NM_004369.4(COL6A3):c.6156+1G>T
|
rs1553554298
|
|
NM_004369.4(COL6A3):c.6156G>T (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
NM_004369.4(COL6A3):c.6193G>C (p.Gly2065Arg)
|
rs397515332
|
|
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys)
|
rs760446904
|
|
NM_004369.4(COL6A3):c.6210+1G>A
|
rs398124126
|
|
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
|
rs886043737
|
|
NM_004369.4(COL6A3):c.6212_6309+28del
|
rs1553553313
|
|
NM_004369.4(COL6A3):c.6220G>A (p.Gly2074Ser)
|
rs886044252
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6230G>T (p.Gly2077Val)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6239G>A (p.Gly2080Asp)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6282+1G>A
|
rs398124128
|
|
NM_004369.4(COL6A3):c.6283-15C>A
|
|
|
NM_004369.4(COL6A3):c.6283-1G>A
|
rs2106341460
|
|
NM_004369.4(COL6A3):c.6308A>G (p.Lys2103Arg)
|
rs1574975203
|
|
NM_004369.4(COL6A3):c.6309+1G>A
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309+1G>T
|
rs886043919
|
|
NM_004369.4(COL6A3):c.6309G>A (p.Lys2103=)
|
rs1574975196
|
|
NM_004369.4(COL6A3):c.6309_6309+1del
|
rs2077385886
|
|
NM_004369.4(COL6A3):c.6310-2A>G
|
rs1559225993
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6354+1G>T
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6355-2dup
|
rs2077379376
|
|
NM_004369.4(COL6A3):c.6618dup (p.Gly2207fs)
|
|
|
NM_004369.4(COL6A3):c.6930+5G>A
|
rs749037028
|
|
NM_004369.4(COL6A3):c.7112del (p.Gly2371fs)
|
rs1323862623
|
|
NM_004369.4(COL6A3):c.7174+1del
|
rs2106325341
|
|
NM_004369.4(COL6A3):c.7264C>T (p.Arg2422Ter)
|
rs878854379
|
|
NM_004369.4(COL6A3):c.7382del (p.Ala2461fs)
|
rs2106324972
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.7648C>T (p.Gln2550Ter)
|
rs2106324666
|
|
NM_004369.4(COL6A3):c.7666C>T (p.Gln2556Ter)
|
rs2077054122
|
|
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs)
|
rs1574942920
|
|
NM_004369.4(COL6A3):c.7796_7797del (p.Phe2599fs)
|
rs886042623
|
|
NM_004369.4(COL6A3):c.792_795del (p.Phe264fs)
|
|
|
NM_004369.4(COL6A3):c.8281C>T (p.Gln2761Ter)
|
rs2076967147
|
|
NM_004369.4(COL6A3):c.8430dup (p.Arg2811fs)
|
|
|
NM_004369.4(COL6A3):c.865G>T (p.Glu289Ter)
|
rs767654047
|
|
NM_004369.4(COL6A3):c.8931del (p.Ala2978fs)
|
rs1553544667
|
|
NM_004369.4(COL6A3):c.9160_9163dup (p.His3055fs)
|
rs2106312317
|
|
NM_004369.4(COL6A3):c.9384G>A (p.Trp3128Ter)
|
rs1405374416
|
|