NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln)
|
rs61735828
|
0.00627
|
NM_001849.4(COL6A2):c.1970-3C>A
|
rs201879417
|
0.00118
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln)
|
rs367658663
|
0.00028
|
NM_001849.4(COL6A2):c.759A>G (p.Glu253=)
|
rs140404854
|
0.00020
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser)
|
rs1035908319
|
0.00005
|
NM_001849.4(COL6A2):c.2633C>T (p.Ala878Val)
|
rs774521989
|
0.00005
|
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)
|
rs765430501
|
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_001849.4(COL6A2):c.2488C>T (p.Arg830Trp)
|
rs373072443
|
0.00003
|
NM_001849.4(COL6A2):c.115+2T>C
|
rs770842374
|
0.00002
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
NM_001849.4(COL6A2):c.1396-1G>A
|
rs1331260332
|
0.00001
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
0.00001
|
NM_001849.4(COL6A2):c.1615C>T (p.Arg539Ter)
|
rs749593004
|
0.00001
|
NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs)
|
rs1413628703
|
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_001849.4(COL6A2):c.2891T>C (p.Met964Thr)
|
rs1427750922
|
0.00001
|
NM_001849.4(COL6A2):c.982G>A (p.Gly328Arg)
|
rs779867653
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:47533922-47535967)x1
|
|
|
GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1
|
|
|
NC_000021.8:g.(?_47542769)_(47546475_?)dup
|
|
|
NC_000021.8:g.(?_47545206)_(47546374_?)del
|
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.-27-3C>G
|
rs1288520983
|
|
NM_001849.4(COL6A2):c.1000-13_1030del
|
rs1555873353
|
|
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
|
|
|
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val)
|
rs1568930426
|
|
NM_001849.4(COL6A2):c.1053+1G>C
|
rs886043187
|
|
NM_001849.4(COL6A2):c.1054-2A>G
|
rs886044023
|
|
NM_001849.4(COL6A2):c.1055G>A (p.Gly352Asp)
|
rs2123632697
|
|
NM_001849.4(COL6A2):c.1055delG
|
rs1555873507
|
|
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys)
|
rs794727061
|
|
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
|
|
|
NM_001849.4(COL6A2):c.1072G>T (p.Gly358Trp)
|
rs2078499825
|
|
NM_001849.4(COL6A2):c.1117-35_1118dup
|
rs1555873698
|
|
NM_001849.4(COL6A2):c.111C>A (p.Cys37Ter)
|
rs986393872
|
|
NM_001849.4(COL6A2):c.1135G>A (p.Gly379Arg)
|
rs2078513383
|
|
NM_001849.4(COL6A2):c.115+2_115+8del
|
rs1407260029
|
|
NM_001849.4(COL6A2):c.1179+1G>A
|
rs2078514224
|
|
NM_001849.4(COL6A2):c.1179+1G>T
|
|
|
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.1458+1G>A
|
rs886044526
|
|
NM_001849.4(COL6A2):c.1459-2_1459-1del
|
|
|
NM_001849.4(COL6A2):c.1521+1G>A
|
rs2123646873
|
|
NM_001849.4(COL6A2):c.1522-1G>C
|
|
|
NM_001849.4(COL6A2):c.1572+1G>A
|
rs1057520717
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1671+1G>T
|
|
|
NM_001849.4(COL6A2):c.1770+1G>A
|
rs752803039
|
|
NM_001849.4(COL6A2):c.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1770+2T>C
|
|
|
NM_001849.4(COL6A2):c.1799dup (p.Thr601fs)
|
rs2123660828
|
|
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>A (p.Asp621Asn)
|
rs267606750
|
|
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.2038_2039delinsA (p.Arg680fs)
|
rs1064795685
|
|
NM_001849.4(COL6A2):c.2040dup (p.Ile681fs)
|
rs886039905
|
|
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.2133C>G (p.Tyr711Ter)
|
rs531816975
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.2206_2208delinsCA (p.Asp736fs)
|
|
|
NM_001849.4(COL6A2):c.2218_2236delinsCCTCGGGT (p.Asp740fs)
|
|
|
NM_001849.4(COL6A2):c.2220_2222del (p.Asp741del)
|
rs753220080
|
|
NM_001849.4(COL6A2):c.2254_2255del (p.Val752fs)
|
|
|
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg)
|
rs267606747
|
|
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs)
|
rs1555877258
|
|
NM_001849.4(COL6A2):c.2638_2656dup (p.Gly886fs)
|
|
|
NM_001849.4(COL6A2):c.2646del (p.Phe882fs)
|
rs1555877282
|
|
NM_001849.4(COL6A2):c.2875G>A (p.Glu959Lys)
|
rs150168522
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.3006_3007insTC (p.Asp1003fs)
|
|
|
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)
|
rs886044576
|
|
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.736-2A>G
|
rs1057518925
|
|
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>A (p.Gly268Asp)
|
rs397515333
|
|
NM_001849.4(COL6A2):c.803G>T (p.Gly268Val)
|
rs397515333
|
|
NM_001849.4(COL6A2):c.838G>A (p.Gly280Ser)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.838G>C (p.Gly280Arg)
|
rs886043323
|
|
NM_001849.4(COL6A2):c.848G>A (p.Gly283Glu)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.848G>T (p.Gly283Val)
|
rs886044088
|
|
NM_001849.4(COL6A2):c.855+1G>C
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.855+1G>T
|
rs1057517988
|
|
NM_001849.4(COL6A2):c.856G>A (p.Gly286Arg)
|
rs2123626018
|
|
NM_001849.4(COL6A2):c.857G>A (p.Gly286Glu)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.857G>T (p.Gly286Val)
|
rs727502827
|
|
NM_001849.4(COL6A2):c.866G>A (p.Gly289Asp)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.866G>T (p.Gly289Val)
|
rs886043554
|
|
NM_001849.4(COL6A2):c.883G>A (p.Gly295Arg)
|
rs1555872873
|
|
NM_001849.4(COL6A2):c.892G>A (p.Gly298Arg)
|
rs797045478
|
|
NM_001849.4(COL6A2):c.893G>C (p.Gly298Ala)
|
rs1487638242
|
|
NM_001849.4(COL6A2):c.893G>T (p.Gly298Val)
|
rs1487638242
|
|
NM_001849.4(COL6A2):c.8_21dup (p.Val8fs)
|
|
|
NM_001849.4(COL6A2):c.901-3C>G
|
rs112317259
|
|
NM_001849.4(COL6A2):c.911G>T (p.Gly304Val)
|
rs727502832
|
|
NM_001849.4(COL6A2):c.920G>T (p.Gly307Val)
|
rs886042541
|
|
NM_001849.4(COL6A2):c.927+5G>A
|
|
|
NM_001849.4(COL6A2):c.928-2A>G
|
rs1440070681
|
|
NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter)
|
rs547648292
|
|
NM_001849.4(COL6A2):c.954+1G>C
|
rs2123628251
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn)
|
rs878854362
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|
NM_001849.4(COL6A2):c.955-3_955-1delinsAA
|
rs1568929639
|
|
NM_001849.4(COL6A2):c.963del (p.Gly322fs)
|
|
|
NM_001849.4(COL6A2):c.999+9_1053+32del
|
rs2078478648
|
|