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.1288G>A (p.Gly430Ser)
|
rs765430501
|
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.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser)
|
rs778364096
|
0.00001
|
NM_001849.4(COL6A2):c.2539_2540dup (p.Gln847fs)
|
rs1413628703
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:47533922-47535967)x1
|
|
|
GRCh37/hg19 21q22.3(chr21:47535923-47536591)x1
|
|
|
NM_001849.3(COL6A2):c.2312dup (p.Asn771Lysfs)
|
rs886043164
|
|
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val)
|
rs1568930426
|
|
NM_001849.4(COL6A2):c.1055G>A (p.Gly352Asp)
|
rs2123632697
|
|
NM_001849.4(COL6A2):c.1063G>T (p.Gly355Cys)
|
rs794727061
|
|
NM_001849.4(COL6A2):c.1117-35_1118dup
|
rs1555873698
|
|
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.1458+1G>A
|
rs886044526
|
|
NM_001849.4(COL6A2):c.1521+1G>A
|
rs2123646873
|
|
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.1770+1del
|
rs886044215
|
|
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)
|
rs267606750
|
|
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.2133C>G (p.Tyr711Ter)
|
rs531816975
|
|
NM_001849.4(COL6A2):c.2206_2208delinsCA (p.Asp736fs)
|
|
|
NM_001849.4(COL6A2):c.2218_2236delinsCCTCGGGT (p.Asp740fs)
|
|
|
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.2646del (p.Phe882fs)
|
rs1555877282
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln)
|
rs886044576
|
|
NM_001849.4(COL6A2):c.803G>A (p.Gly268Asp)
|
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.855+1G>C
|
rs1057517988
|
|
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.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.920G>T (p.Gly307Val)
|
rs886042541
|
|
NM_001849.4(COL6A2):c.94G>T (p.Glu32Ter)
|
rs547648292
|
|
NM_001849.4(COL6A2):c.955-1G>A
|
rs886044265
|
|