NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met)
|
rs34741387
|
0.00817
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_004369.4(COL6A3):c.9128G>A (p.Arg3043His)
|
rs552651651
|
0.00025
|
NM_004369.4(COL6A3):c.6422C>A (p.Pro2141His)
|
rs369169235
|
0.00010
|
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val)
|
rs753966526
|
0.00006
|
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg)
|
rs763348222
|
0.00006
|
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val)
|
rs766488017
|
0.00004
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_004369.4(COL6A3):c.1825C>T (p.Arg609Ter)
|
rs755382829
|
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.6604C>T (p.Arg2202Ter)
|
rs774115247
|
0.00001
|
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser)
|
rs749855513
|
0.00001
|
NM_004369.4(COL6A3):c.6853G>A (p.Gly2285Arg)
|
rs1268762655
|
0.00001
|
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)
|
rs886043576
|
0.00001
|
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
|
|
|
NC_000002.11:g.238258810delG
|
rs794729205
|
|
NC_000002.12:g.(?_237362747)_(237372158_?)del
|
|
|
NM_004369.4(COL6A3):c.1313-442_1595delinsGCAAC
|
|
|
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)
|
rs200722892
|
|
NM_004369.4(COL6A3):c.2506C>T (p.Arg836Ter)
|
rs761796175
|
|
NM_004369.4(COL6A3):c.2803C>T (p.Arg935Trp)
|
|
|
NM_004369.4(COL6A3):c.3071-1G>A
|
|
|
NM_004369.4(COL6A3):c.3473del (p.Gly1158fs)
|
|
|
NM_004369.4(COL6A3):c.3844G>A (p.Val1282Met)
|
rs535661345
|
|
NM_004369.4(COL6A3):c.4285+1G>T
|
rs1574701592
|
|
NM_004369.4(COL6A3):c.4286-2A>C
|
|
|
NM_004369.4(COL6A3):c.4286-2A>G
|
rs761453030
|
|
NM_004369.4(COL6A3):c.4390C>T (p.Arg1464Ter)
|
rs912671116
|
|
NM_004369.4(COL6A3):c.4624C>T (p.Gln1542Ter)
|
rs1553557696
|
|
NM_004369.4(COL6A3):c.4789C>T (p.Arg1597Ter)
|
|
|
NM_004369.4(COL6A3):c.4950_4963del (p.Arg1651fs)
|
|
|
NM_004369.4(COL6A3):c.5035G>A (p.Gly1679Arg)
|
rs2106350905
|
|
NM_004369.4(COL6A3):c.5036G>A (p.Gly1679Glu)
|
rs121434553
|
|
NM_004369.4(COL6A3):c.526G>T (p.Gly176Ter)
|
|
|
NM_004369.4(COL6A3):c.5281del (p.Asp1761fs)
|
|
|
NM_004369.4(COL6A3):c.5524G>A (p.Gly1842Arg)
|
|
|
NM_004369.4(COL6A3):c.5524G>C (p.Gly1842Arg)
|
rs1395597644
|
|
NM_004369.4(COL6A3):c.5662_5670del (p.Ser1888_Val1890del)
|
rs2077539093
|
|
NM_004369.4(COL6A3):c.5838+1G>T
|
rs1559234260
|
|
NM_004369.4(COL6A3):c.589del (p.Met197fs)
|
rs2106387939
|
|
NM_004369.4(COL6A3):c.5992C>T (p.Arg1998Ter)
|
|
|
NM_004369.4(COL6A3):c.6130G>A (p.Gly2044Arg)
|
rs1559229322
|
|
NM_004369.4(COL6A3):c.6156G>A (p.Lys2052=)
|
|
|
NM_004369.4(COL6A3):c.6156G>C (p.Lys2052Asn)
|
rs398124125
|
|
NM_004369.4(COL6A3):c.6157-1G>A
|
|
|
NM_004369.4(COL6A3):c.6158G>A (p.Gly2053Asp)
|
|
|
NM_004369.4(COL6A3):c.6158G>T (p.Gly2053Val)
|
rs886041329
|
|
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu)
|
rs1064795558
|
|
NM_004369.4(COL6A3):c.6193G>A (p.Gly2065Ser)
|
rs397515332
|
|
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.6211G>T (p.Gly2071Cys)
|
rs2106342311
|
|
NM_004369.4(COL6A3):c.6212G>A (p.Gly2071Asp)
|
rs886043737
|
|
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs)
|
rs1574976615
|
|
NM_004369.4(COL6A3):c.6221G>A (p.Gly2074Asp)
|
|
|
NM_004369.4(COL6A3):c.6230G>A (p.Gly2077Asp)
|
rs1553553646
|
|
NM_004369.4(COL6A3):c.6238G>A (p.Gly2080Ser)
|
rs1553553625
|
|
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg)
|
rs1553553625
|
|
NM_004369.4(COL6A3):c.6238G>T (p.Gly2080Cys)
|
|
|
NM_004369.4(COL6A3):c.6248G>T (p.Gly2083Val)
|
rs1085307697
|
|
NM_004369.4(COL6A3):c.6282+1G>C
|
|
|
NM_004369.4(COL6A3):c.6331CTGGATGGT[1] (p.2111LDG[1])
|
rs1553553248
|
|
NM_004369.4(COL6A3):c.6354+1G>A
|
rs886042883
|
|
NM_004369.4(COL6A3):c.6355-1G>A
|
rs113605136
|
|
NM_004369.4(COL6A3):c.6355-2A>G
|
rs2106341060
|
|
NM_004369.4(COL6A3):c.6355G>A (p.Gly2119Arg)
|
|
|
NM_004369.4(COL6A3):c.6409-1G>C
|
|
|
NM_004369.4(COL6A3):c.6418G>A (p.Gly2140Arg)
|
rs372697731
|
|
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
|
|
|
NM_004369.4(COL6A3):c.6537+1G>A
|
|
|
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.749C>A (p.Ser250Ter)
|
rs1085307777
|
|
NM_004369.4(COL6A3):c.761del (p.Gly254fs)
|
rs780921503
|
|
NM_004369.4(COL6A3):c.7669-2del
|
rs764193290
|
|
NM_004369.4(COL6A3):c.7975C>T (p.Gln2659Ter)
|
rs2076974450
|
|
NM_004369.4(COL6A3):c.8074del (p.Tyr2692fs)
|
rs2106319784
|
|
NM_004369.4(COL6A3):c.8076T>G (p.Tyr2692Ter)
|
rs1306053610
|
|
NM_004369.4(COL6A3):c.8467=
|
|
|
NM_004369.4(COL6A3):c.8634del (p.Thr2879fs)
|
rs2106314700
|
|
NM_004369.4(COL6A3):c.8866del (p.Ala2956fs)
|
|
|
NM_004369.4(COL6A3):c.8965+1G>A
|
rs995147980
|
|
NM_004369.4(COL6A3):c.9047dup (p.Pro3017fs)
|
|
|
NM_004369.4(COL6A3):c.9175del (p.Val3059fs)
|
|
|
NM_004369.4(COL6A3):c.9193C>T (p.Gln3065Ter)
|
rs886043992
|
|
NM_004369.4(COL6A3):c.9230-1G>A
|
|
|
NM_004369.4(COL6A3):c.9234del (p.Lys3078fs)
|
|
|