NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001848.3(COL6A1):c.957+6C>T
|
rs374926748
|
0.00025
|
NM_001848.3(COL6A1):c.1777-3C>T
|
rs111263341
|
0.00008
|
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys)
|
rs751779784
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
NM_001848.3(COL6A1):c.1236+5G>A
|
rs376327142
|
0.00004
|
NM_001848.3(COL6A1):c.1271G>A (p.Arg424Gln)
|
rs761729281
|
0.00004
|
NM_001848.3(COL6A1):c.1397C>T (p.Pro466Leu)
|
rs746962124
|
0.00004
|
NM_001848.3(COL6A1):c.1461+4A>G
|
rs201372759
|
0.00004
|
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=)
|
rs781031251
|
0.00004
|
NM_001848.3(COL6A1):c.1672G>A (p.Asp558Asn)
|
rs1372696070
|
0.00004
|
NM_001848.3(COL6A1):c.1825T>C (p.Cys609Arg)
|
rs763495943
|
0.00004
|
NM_001848.3(COL6A1):c.2481G>A (p.Pro827=)
|
rs772673965
|
0.00004
|
NM_001848.3(COL6A1):c.903+4C>T
|
rs200380846
|
0.00004
|
NM_001848.3(COL6A1):c.96G>A (p.Gln32=)
|
rs754988212
|
0.00004
|
NM_001848.3(COL6A1):c.1534G>A (p.Gly512Ser)
|
rs201153092
|
0.00003
|
NM_001848.3(COL6A1):c.1957-10G>A
|
rs761863286
|
0.00003
|
NM_001848.3(COL6A1):c.1976A>T (p.Tyr659Phe)
|
rs752045107
|
0.00003
|
NM_001848.3(COL6A1):c.2603C>T (p.Ala868Val)
|
rs565089447
|
0.00003
|
NM_001848.3(COL6A1):c.1060A>T (p.Ile354Phe)
|
rs1179596064
|
0.00002
|
NM_001848.3(COL6A1):c.1118A>T (p.Lys373Met)
|
rs1404246917
|
0.00002
|
NM_001848.3(COL6A1):c.1459G>A (p.Glu487Lys)
|
rs779320527
|
0.00002
|
NM_001848.3(COL6A1):c.1489G>A (p.Gly497Arg)
|
rs202109302
|
0.00002
|
NM_001848.3(COL6A1):c.1745C>T (p.Pro582Leu)
|
rs766478019
|
0.00002
|
NM_001848.3(COL6A1):c.2465T>G (p.Ile822Ser)
|
rs780264446
|
0.00002
|
NM_001848.3(COL6A1):c.2986G>A (p.Val996Met)
|
rs764765574
|
0.00002
|
NM_001848.3(COL6A1):c.607A>G (p.Ile203Val)
|
rs886044481
|
0.00002
|
NM_001848.3(COL6A1):c.717C>T (p.Ile239=)
|
rs775349013
|
0.00002
|
NM_001848.3(COL6A1):c.1002+6T>C
|
rs13052179
|
0.00001
|
NM_001848.3(COL6A1):c.1061T>C (p.Ile354Thr)
|
rs2077773578
|
0.00001
|
NM_001848.3(COL6A1):c.1182+5G>C
|
rs1473206283
|
0.00001
|
NM_001848.3(COL6A1):c.1236+3G>A
|
rs968780030
|
0.00001
|
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser)
|
rs745485695
|
0.00001
|
NM_001848.3(COL6A1):c.1294C>A (p.Pro432Thr)
|
rs1436272876
|
0.00001
|
NM_001848.3(COL6A1):c.131C>G (p.Thr44Ser)
|
rs2077714741
|
0.00001
|
NM_001848.3(COL6A1):c.1375C>T (p.Pro459Ser)
|
rs1235742792
|
0.00001
|
NM_001848.3(COL6A1):c.1468A>G (p.Arg490Gly)
|
rs2077813854
|
0.00001
|
NM_001848.3(COL6A1):c.1575+4A>G
|
rs1306019240
|
0.00001
|
NM_001848.3(COL6A1):c.1575+6T>C
|
rs745511169
|
0.00001
|
NM_001848.3(COL6A1):c.1580A>G (p.Tyr527Cys)
|
rs2077819024
|
0.00001
|
NM_001848.3(COL6A1):c.1589A>G (p.Asn530Ser)
|
rs771012175
|
0.00001
|
NM_001848.3(COL6A1):c.1666G>A (p.Gly556Arg)
|
rs886043521
|
0.00001
|
NM_001848.3(COL6A1):c.1718A>G (p.Tyr573Cys)
|
rs887316220
|
0.00001
|
NM_001848.3(COL6A1):c.1732G>A (p.Gly578Ser)
|
rs778884385
|
0.00001
|
NM_001848.3(COL6A1):c.1740+3G>C
|
rs1314703448
|
0.00001
|
NM_001848.3(COL6A1):c.1742G>C (p.Gly581Ala)
|
rs1462355816
|
0.00001
|
NM_001848.3(COL6A1):c.1817G>T (p.Cys606Phe)
|
rs368925441
|
0.00001
|
NM_001848.3(COL6A1):c.1956G>A (p.Lys652=)
|
rs750677675
|
0.00001
|
NM_001848.3(COL6A1):c.2021T>G (p.Val674Gly)
|
rs1255698056
|
0.00001
|
NM_001848.3(COL6A1):c.2132G>A (p.Arg711Gln)
|
rs766956281
|
0.00001
|
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg)
|
rs1297620940
|
0.00001
|
NM_001848.3(COL6A1):c.2411A>G (p.Asn804Ser)
|
rs750677189
|
0.00001
|
NM_001848.3(COL6A1):c.2437A>G (p.Lys813Glu)
|
rs936641232
|
0.00001
|
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu)
|
rs1171160953
|
0.00001
|
NM_001848.3(COL6A1):c.338T>C (p.Leu113Pro)
|
rs2077725343
|
0.00001
|
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr)
|
rs1258934082
|
0.00001
|
NM_001848.3(COL6A1):c.5G>A (p.Arg2Lys)
|
rs1305504243
|
0.00001
|
NM_001848.3(COL6A1):c.903+5G>A
|
rs759468291
|
0.00001
|
NC_000021.8:g.(?_47400663)_(47425963_?)dup
|
|
|
NC_000021.8:g.(?_47410282)_(47410965_?)dup
|
|
|
NC_000021.8:g.(?_47410677)_(47410965_?)dup
|
|
|
NC_000021.8:g.(?_47417315)_(47423927_?)dup
|
|
|
NC_000021.8:g.(?_47423046)_(47429562_?)del
|
|
|
NC_000021.9:g.(?_45981831)_(46004033_?)dup
|
|
|
NM_001848.2(COL6A1):c.1568_1575+1dup
|
rs2077817384
|
|
NM_001848.3(COL6A1):c.1002+42_1002+43insGACGGGGAGGGATGGGGTGGACAGTGTGAAGGTGACTGGGGGGAGATAGGATGGACGGGGAGGGACGAGGAGG
|
|
|
NM_001848.3(COL6A1):c.1002+5_1002+6insCCGGGGAGGGA
|
rs2077768137
|
|
NM_001848.3(COL6A1):c.1002+6_1002+89del
|
|
|
NM_001848.3(COL6A1):c.1002+6_1003-135del
|
rs2123472135
|
|
NM_001848.3(COL6A1):c.1003-3C>G
|
rs1171069767
|
|
NM_001848.3(COL6A1):c.1013G>A (p.Gly338Glu)
|
rs794727121
|
|
NM_001848.3(COL6A1):c.1024_1032del (p.Leu342_Gly344del)
|
rs398123630
|
|
NM_001848.3(COL6A1):c.1030G>C (p.Gly344Arg)
|
rs1569518250
|
|
NM_001848.3(COL6A1):c.1043C>G (p.Ser348Trp)
|
rs142882745
|
|
NM_001848.3(COL6A1):c.1056+4A>C
|
rs886043433
|
|
NM_001848.3(COL6A1):c.1069C>A (p.Pro357Thr)
|
rs762443936
|
|
NM_001848.3(COL6A1):c.1075_1076delinsAA (p.Gly359Asn)
|
rs886042646
|
|
NM_001848.3(COL6A1):c.1076G>A (p.Gly359Asp)
|
|
|
NM_001848.3(COL6A1):c.10G>A (p.Ala4Thr)
|
rs1603589147
|
|
NM_001848.3(COL6A1):c.1100T>C (p.Phe367Ser)
|
|
|
NM_001848.3(COL6A1):c.1117A>C (p.Lys373Gln)
|
rs144677931
|
|
NM_001848.3(COL6A1):c.1117A>G (p.Lys373Glu)
|
|
|
NM_001848.3(COL6A1):c.1125G>T (p.Glu375Asp)
|
|
|
NM_001848.3(COL6A1):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001848.3(COL6A1):c.1151G>C (p.Arg384Thr)
|
rs2123474648
|
|
NM_001848.3(COL6A1):c.1166G>C (p.Gly389Ala)
|
rs2123474665
|
|
NM_001848.3(COL6A1):c.1179C>A (p.Asp393Glu)
|
|
|
NM_001848.3(COL6A1):c.1182G>A (p.Glu394=)
|
rs1423443362
|
|
NM_001848.3(COL6A1):c.1204C>A (p.Pro402Thr)
|
rs983326119
|
|
NM_001848.3(COL6A1):c.1210G>A (p.Gly404Arg)
|
|
|
NM_001848.3(COL6A1):c.1224G>T (p.Glu408Asp)
|
rs772775334
|
|
NM_001848.3(COL6A1):c.1236+5G>C
|
rs376327142
|
|
NM_001848.3(COL6A1):c.1239G>T (p.Gly413=)
|
rs1245856941
|
|
NM_001848.3(COL6A1):c.1270C>T (p.Arg424Trp)
|
rs1034465336
|
|
NM_001848.3(COL6A1):c.1272+3G>A
|
rs2123475120
|
|
NM_001848.3(COL6A1):c.1272G>A (p.Arg424=)
|
|
|
NM_001848.3(COL6A1):c.1276G>A (p.Gly426Ser)
|
rs2077783907
|
|
NM_001848.3(COL6A1):c.1287G>T (p.Glu429Asp)
|
|
|
NM_001848.3(COL6A1):c.1335+3G>A
|
|
|
NM_001848.3(COL6A1):c.1336G>A (p.Gly446Ser)
|
|
|
NM_001848.3(COL6A1):c.1342G>A (p.Ala448Thr)
|
rs886057153
|
|
NM_001848.3(COL6A1):c.1351C>A (p.Gln451Lys)
|
rs762989478
|
|
NM_001848.3(COL6A1):c.1352A>T (p.Gln451Leu)
|
|
|
NM_001848.3(COL6A1):c.1367G>A (p.Arg456Lys)
|
|
|
NM_001848.3(COL6A1):c.1378G>T (p.Val460Phe)
|
rs375452881
|
|
NM_001848.3(COL6A1):c.1398G>A (p.Pro466=)
|
rs886042955
|
|
NM_001848.3(COL6A1):c.13C>T (p.Arg5Cys)
|
rs1235513102
|
|
NM_001848.3(COL6A1):c.1400G>A (p.Gly467Asp)
|
|
|
NM_001848.3(COL6A1):c.1417G>A (p.Gly473Arg)
|
rs766667205
|
|
NM_001848.3(COL6A1):c.1475C>A (p.Ala492Asp)
|
rs117340427
|
|
NM_001848.3(COL6A1):c.1477C>A (p.Pro493Thr)
|
rs760275915
|
|
NM_001848.3(COL6A1):c.14G>A (p.Arg5His)
|
rs1556423460
|
|
NM_001848.3(COL6A1):c.1508G>A (p.Gly503Glu)
|
rs1556428597
|
|
NM_001848.3(COL6A1):c.1516G>A (p.Gly506Ser)
|
rs2123482543
|
|
NM_001848.3(COL6A1):c.1555_1556delinsAG (p.Glu519Arg)
|
|
|
NM_001848.3(COL6A1):c.1567G>A (p.Gly523Ser)
|
rs2123483067
|
|
NM_001848.3(COL6A1):c.1570T>C (p.Phe524Leu)
|
rs2077817452
|
|
NM_001848.3(COL6A1):c.1575+2_1575+3insCTT
|
rs758434455
|
|
NM_001848.3(COL6A1):c.1575+2dup
|
rs758434455
|
|
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg)
|
rs764556767
|
|
NM_001848.3(COL6A1):c.1611C>A (p.Asn537Lys)
|
rs200023632
|
|
NM_001848.3(COL6A1):c.1612-3C>T
|
rs767913216
|
|
NM_001848.3(COL6A1):c.1619A>G (p.Lys540Arg)
|
rs1603593300
|
|
NM_001848.3(COL6A1):c.1640G>A (p.Gly547Glu)
|
|
|
NM_001848.3(COL6A1):c.1654G>A (p.Ala552Thr)
|
rs1397088680
|
|
NM_001848.3(COL6A1):c.1654G>C (p.Ala552Pro)
|
|
|
NM_001848.3(COL6A1):c.1657G>A (p.Gly553Arg)
|
rs2077822326
|
|
NM_001848.3(COL6A1):c.1671C>G (p.Asp557Glu)
|
|
|
NM_001848.3(COL6A1):c.1674+3_1674+6del
|
|
|
NM_001848.3(COL6A1):c.1675-5T>G
|
|
|
NM_001848.3(COL6A1):c.1685T>C (p.Ile562Thr)
|
rs775182845
|
|
NM_001848.3(COL6A1):c.1731G>C (p.Glu577Asp)
|
rs755214430
|
|
NM_001848.3(COL6A1):c.1739A>G (p.Gln580Arg)
|
rs1359915404
|
|
NM_001848.3(COL6A1):c.1740+3G>A
|
|
|
NM_001848.3(COL6A1):c.1760G>A (p.Gly587Glu)
|
rs1188795991
|
|
NM_001848.3(COL6A1):c.1763C>A (p.Pro588Gln)
|
|
|
NM_001848.3(COL6A1):c.17C>G (p.Ala6Gly)
|
|
|
NM_001848.3(COL6A1):c.1801A>G (p.Met601Val)
|
|
|
NM_001848.3(COL6A1):c.1813+3_1813+6del
|
|
|
NM_001848.3(COL6A1):c.1814-7_1814-6delinsAA
|
rs2077839436
|
|
NM_001848.3(COL6A1):c.1816T>A (p.Cys606Ser)
|
|
|
NM_001848.3(COL6A1):c.1819T>C (p.Cys607Arg)
|
|
|
NM_001848.3(COL6A1):c.1835G>T (p.Gly612Val)
|
rs1222901174
|
|
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del)
|
rs1085307560
|
|
NM_001848.3(COL6A1):c.1846C>T (p.Leu616Phe)
|
rs1423091612
|
|
NM_001848.3(COL6A1):c.1855G>T (p.Val619Leu)
|
rs150938324
|
|
NM_001848.3(COL6A1):c.185T>G (p.Val62Gly)
|
rs1603589342
|
|
NM_001848.3(COL6A1):c.1911C>A (p.Phe637Leu)
|
rs552239546
|
|
NM_001848.3(COL6A1):c.1951G>T (p.Val651Phe)
|
|
|
NM_001848.3(COL6A1):c.1959C>G (p.Phe653Leu)
|
rs112104768
|
|
NM_001848.3(COL6A1):c.1963_1971del (p.Pro655_Gln657del)
|
|
|
NM_001848.3(COL6A1):c.1973C>T (p.Ser658Leu)
|
rs1260709010
|
|
NM_001848.3(COL6A1):c.1987G>A (p.Val663Met)
|
|
|
NM_001848.3(COL6A1):c.1991A>C (p.Gln664Pro)
|
|
|
NM_001848.3(COL6A1):c.19C>A (p.Leu7Met)
|
|
|
NM_001848.3(COL6A1):c.1A>T (p.Met1Leu)
|
rs2123459059
|
|
NM_001848.3(COL6A1):c.2030G>T (p.Arg677Leu)
|
rs373731596
|
|
NM_001848.3(COL6A1):c.2035C>G (p.Pro679Ala)
|
|
|
NM_001848.3(COL6A1):c.2063A>C (p.Lys688Thr)
|
|
|
NM_001848.3(COL6A1):c.2075A>G (p.Lys692Arg)
|
rs2123490353
|
|
NM_001848.3(COL6A1):c.2093C>T (p.Ala698Val)
|
rs2123490392
|
|
NM_001848.3(COL6A1):c.2131C>T (p.Arg711Trp)
|
|
|
NM_001848.3(COL6A1):c.2134G>C (p.Asp712His)
|
|
|
NM_001848.3(COL6A1):c.2161A>C (p.Asn721His)
|
|
|
NM_001848.3(COL6A1):c.2163C>A (p.Asn721Lys)
|
|
|
NM_001848.3(COL6A1):c.2170G>A (p.Ala724Thr)
|
|
|
NM_001848.3(COL6A1):c.2202_2213dup (p.Gln735_Thr738dup)
|
rs2123490613
|
|
NM_001848.3(COL6A1):c.2231T>C (p.Leu744Pro)
|
|
|
NM_001848.3(COL6A1):c.223G>C (p.Asp75His)
|
|
|
NM_001848.3(COL6A1):c.2250G>C (p.Gln750His)
|
|
|
NM_001848.3(COL6A1):c.2251-11_2251-8del
|
|
|
NM_001848.3(COL6A1):c.225C>G (p.Asp75Glu)
|
|
|
NM_001848.3(COL6A1):c.2327G>A (p.Gly776Asp)
|
|
|
NM_001848.3(COL6A1):c.2328C>T (p.Gly776=)
|
rs1434098396
|
|
NM_001848.3(COL6A1):c.2339C>A (p.Ser780Tyr)
|
rs2077853664
|
|
NM_001848.3(COL6A1):c.2344G>A (p.Gly782Ser)
|
|
|
NM_001848.3(COL6A1):c.2360C>T (p.Ser787Leu)
|
rs1203093809
|
|
NM_001848.3(COL6A1):c.2407A>C (p.Lys803Gln)
|
|
|
NM_001848.3(COL6A1):c.2430del (p.Ile809_Cys810insTer)
|
rs2077854422
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGAGCAGTCCCAGATCTGCATAGGTGCGCATGGGGCC
|
rs2123491106
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15insGCCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCACGTGGGGCCGCCCGGGCAGT
|
rs1569519146
|
|
NM_001848.3(COL6A1):c.2434+14_2434+15inv
|
|
|
NM_001848.3(COL6A1):c.2434+19_2434+20insAGCAGTCCCAGATCTGCGTAGGTGCGCGCGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCAC
|
rs2123491242
|
|
NM_001848.3(COL6A1):c.2434+4C>T
|
rs202147670
|
|
NM_001848.3(COL6A1):c.2434+5G>T
|
rs1360722232
|
|
NM_001848.3(COL6A1):c.2440A>C (p.Lys814Gln)
|
rs2123491909
|
|
NM_001848.3(COL6A1):c.2464+1G>A
|
rs113290209
|
|
NM_001848.3(COL6A1):c.2483C>A (p.Ala828Asp)
|
|
|
NM_001848.3(COL6A1):c.2513C>T (p.Ala838Val)
|
rs1486288129
|
|
NM_001848.3(COL6A1):c.2545A>G (p.Lys849Glu)
|
|
|
NM_001848.3(COL6A1):c.2554G>C (p.Ala852Pro)
|
rs748327110
|
|
NM_001848.3(COL6A1):c.2566G>A (p.Ala856Thr)
|
|
|
NM_001848.3(COL6A1):c.2611G>C (p.Val871Leu)
|
|
|
NM_001848.3(COL6A1):c.2623G>A (p.Val875Met)
|
|
|
NM_001848.3(COL6A1):c.2666C>T (p.Ala889Val)
|
|
|
NM_001848.3(COL6A1):c.2672T>C (p.Leu891Pro)
|
rs2077862405
|
|
NM_001848.3(COL6A1):c.2698C>A (p.Leu900Met)
|
rs1226903258
|
|
NM_001848.3(COL6A1):c.269C>G (p.Ala90Gly)
|
rs766517983
|
|
NM_001848.3(COL6A1):c.2702C>G (p.Ala901Gly)
|
|
|
NM_001848.3(COL6A1):c.2713G>T (p.Asp905Tyr)
|
|
|
NM_001848.3(COL6A1):c.2731_2733del (p.Asn911del)
|
rs2123492948
|
|
NM_001848.3(COL6A1):c.2734G>A (p.Asp912Asn)
|
|
|
NM_001848.3(COL6A1):c.2751C>G (p.Asn917Lys)
|
|
|
NM_001848.3(COL6A1):c.2786A>C (p.Glu929Ala)
|
|
|
NM_001848.3(COL6A1):c.278A>G (p.Tyr93Cys)
|
|
|
NM_001848.3(COL6A1):c.2807AGA[1] (p.Lys937del)
|
rs886043457
|
|
NM_001848.3(COL6A1):c.2808_2809delinsAC (p.Lys937Gln)
|
|
|
NM_001848.3(COL6A1):c.2911G>C (p.Val971Leu)
|
rs769795690
|
|
NM_001848.3(COL6A1):c.2911G>T (p.Val971Leu)
|
rs769795690
|
|
NM_001848.3(COL6A1):c.2930A>T (p.Gln977Leu)
|
|
|
NM_001848.3(COL6A1):c.2941C>A (p.Pro981Thr)
|
rs1569519253
|
|
NM_001848.3(COL6A1):c.2946C>G (p.His982Gln)
|
|
|
NM_001848.3(COL6A1):c.2975C>T (p.Ala992Val)
|
rs1316734507
|
|
NM_001848.3(COL6A1):c.2996G>A (p.Gly999Asp)
|
rs1603595132
|
|
NM_001848.3(COL6A1):c.2998G>A (p.Glu1000Lys)
|
rs201456885
|
|
NM_001848.3(COL6A1):c.3006C>A (p.His1002Gln)
|
rs1180948133
|
|
NM_001848.3(COL6A1):c.3016G>A (p.Val1006Ile)
|
|
|
NM_001848.3(COL6A1):c.3058_3061del (p.Thr1020fs)
|
rs766289958
|
|
NM_001848.3(COL6A1):c.305G>T (p.Gly102Val)
|
|
|
NM_001848.3(COL6A1):c.356C>A (p.Ala119Glu)
|
|
|
NM_001848.3(COL6A1):c.375G>C (p.Lys125Asn)
|
rs1603589594
|
|
NM_001848.3(COL6A1):c.377G>T (p.Gly126Val)
|
rs1300015385
|
|
NM_001848.3(COL6A1):c.402G>C (p.Lys134Asn)
|
|
|
NM_001848.3(COL6A1):c.40G>A (p.Ala14Thr)
|
rs1454397058
|
|
NM_001848.3(COL6A1):c.424G>A (p.Val142Met)
|
rs144282452
|
|
NM_001848.3(COL6A1):c.428+14_428+15delinsGA
|
|
|
NM_001848.3(COL6A1):c.428+5G>A
|
rs1603589628
|
|
NM_001848.3(COL6A1):c.445G>A (p.Glu149Lys)
|
|
|
NM_001848.3(COL6A1):c.446A>T (p.Glu149Val)
|
rs2077739763
|
|
NM_001848.3(COL6A1):c.44G>T (p.Cys15Phe)
|
|
|
NM_001848.3(COL6A1):c.46T>C (p.Trp16Arg)
|
|
|
NM_001848.3(COL6A1):c.475G>A (p.Gly159Arg)
|
rs1471465037
|
|
NM_001848.3(COL6A1):c.490G>A (p.Gly164Ser)
|
|
|
NM_001848.3(COL6A1):c.497A>G (p.Lys166Arg)
|
rs980266782
|
|
NM_001848.3(COL6A1):c.503C>T (p.Pro168Leu)
|
|
|
NM_001848.3(COL6A1):c.509G>C (p.Gly170Ala)
|
rs1309872535
|
|
NM_001848.3(COL6A1):c.518A>T (p.Glu173Val)
|
rs1385535913
|
|
NM_001848.3(COL6A1):c.535G>A (p.Ala179Thr)
|
rs2077740453
|
|
NM_001848.3(COL6A1):c.541C>T (p.His181Tyr)
|
rs1556424938
|
|
NM_001848.3(COL6A1):c.548G>C (p.Gly183Ala)
|
rs766184155
|
|
NM_001848.3(COL6A1):c.555_557del (p.Lys185_Val186delinsAsn)
|
|
|
NM_001848.3(COL6A1):c.559T>G (p.Phe187Val)
|
|
|
NM_001848.3(COL6A1):c.571A>G (p.Ile191Val)
|
rs1273238821
|
|
NM_001848.3(COL6A1):c.580G>A (p.Asp194Asn)
|
|
|
NM_001848.3(COL6A1):c.583C>T (p.His195Tyr)
|
rs2077740811
|
|
NM_001848.3(COL6A1):c.588+12_588+13delinsTA
|
rs2123466169
|
|
NM_001848.3(COL6A1):c.589-3C>T
|
rs1288681930
|
|
NM_001848.3(COL6A1):c.589G>C (p.Glu197Gln)
|
|
|
NM_001848.3(COL6A1):c.604A>G (p.Ile202Val)
|
|
|
NM_001848.3(COL6A1):c.61G>C (p.Asp21His)
|
|
|
NM_001848.3(COL6A1):c.665G>T (p.Arg222Leu)
|
rs780638665
|
|
NM_001848.3(COL6A1):c.695T>C (p.Ile232Thr)
|
|
|
NM_001848.3(COL6A1):c.704T>C (p.Ile235Thr)
|
rs2077743440
|
|
NM_001848.3(COL6A1):c.716T>A (p.Ile239Asn)
|
rs2123466789
|
|
NM_001848.3(COL6A1):c.717+9C>G
|
|
|
NM_001848.3(COL6A1):c.718A>G (p.Lys240Glu)
|
|
|
NM_001848.3(COL6A1):c.720A>G (p.Lys240=)
|
rs147612667
|
|
NM_001848.3(COL6A1):c.720A>T (p.Lys240Asn)
|
|
|
NM_001848.3(COL6A1):c.729G>A (p.Val243=)
|
|
|
NM_001848.3(COL6A1):c.760-3C>T
|
|
|
NM_001848.3(COL6A1):c.761C>G (p.Pro254Arg)
|
|
|
NM_001848.3(COL6A1):c.775C>A (p.Pro259Thr)
|
rs2077747487
|
|
NM_001848.3(COL6A1):c.803A>G (p.Glu268Gly)
|
|
|
NM_001848.3(COL6A1):c.83C>T (p.Ala28Val)
|
|
|
NM_001848.3(COL6A1):c.858+5G>A
|
rs2123470416
|
|
NM_001848.3(COL6A1):c.858+5G>T
|
|
|
NM_001848.3(COL6A1):c.85G>A (p.Val29Met)
|
rs766057159
|
|
NM_001848.3(COL6A1):c.865C>G (p.Pro289Ala)
|
rs777764932
|
|
NM_001848.3(COL6A1):c.880C>T (p.Pro294Ser)
|
|
|
NM_001848.3(COL6A1):c.894G>C (p.Gln298His)
|
rs371989252
|
|
NM_001848.3(COL6A1):c.904-10G>A
|
rs794727027
|
|
NM_001848.3(COL6A1):c.904-39A>T
|
rs1569518138
|
|
NM_001848.3(COL6A1):c.904-3T>G
|
|
|
NM_001848.3(COL6A1):c.923G>T (p.Gly308Val)
|
rs2077763346
|
|
NM_001848.3(COL6A1):c.925G>A (p.Glu309Lys)
|
|
|
NM_001848.3(COL6A1):c.930+20G>A
|
|
|
NM_001848.3(COL6A1):c.941G>A (p.Gly314Glu)
|
rs1556425679
|
|
NM_001848.3(COL6A1):c.941G>T (p.Gly314Val)
|
rs1556425679
|
|
NM_001848.3(COL6A1):c.957+4A>T
|
|
|
NM_001848.3(COL6A1):c.958-3_958-2del
|
|
|
NM_001848.3(COL6A1):c.98-6G>A
|
rs886042599
|
|
NM_001848.3(COL6A1):c.995G>T (p.Gly332Val)
|
|
|
NM_001848.3(COL6A1):c.997G>T (p.Val333Leu)
|
|
|