NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg)
|
rs200710788
|
0.00116
|
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys)
|
rs150098077
|
0.00083
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile)
|
rs371386355
|
0.00017
|
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
|
rs200200671
|
0.00016
|
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=)
|
rs144136807
|
0.00010
|
NM_001849.4(COL6A2):c.1332+3G>A
|
rs201007156
|
0.00010
|
NM_001849.4(COL6A2):c.2848G>A (p.Gly950Ser)
|
rs147054208
|
0.00010
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)
|
rs753298014
|
0.00008
|
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=)
|
rs754900547
|
0.00007
|
NM_001849.4(COL6A2):c.1053+6G>A
|
rs373181368
|
0.00006
|
NM_001849.4(COL6A2):c.1071G>A (p.Pro357=)
|
rs746727003
|
0.00006
|
NM_001849.4(COL6A2):c.1097G>A (p.Arg366Gln)
|
rs368588676
|
0.00006
|
NM_001849.4(COL6A2):c.2422+6C>T
|
rs371950486
|
0.00006
|
NM_001849.4(COL6A2):c.2810G>A (p.Arg937Gln)
|
rs777354703
|
0.00006
|
NM_001849.4(COL6A2):c.289G>A (p.Gly97Ser)
|
rs750027302
|
0.00006
|
NM_001849.4(COL6A2):c.2978G>A (p.Arg993His)
|
rs544436881
|
0.00006
|
NM_001849.4(COL6A2):c.116-3C>T
|
rs767597831
|
0.00005
|
NM_001849.4(COL6A2):c.1360G>A (p.Gly454Ser)
|
rs1035908319
|
0.00005
|
NM_001849.4(COL6A2):c.1705C>T (p.Arg569Trp)
|
rs747089603
|
0.00005
|
NM_001849.4(COL6A2):c.2770G>A (p.Ala924Thr)
|
rs771749652
|
0.00005
|
NM_001849.4(COL6A2):c.637C>T (p.Arg213Cys)
|
rs374196682
|
0.00005
|
NM_001849.4(COL6A2):c.638G>A (p.Arg213His)
|
rs368064647
|
0.00005
|
NM_001849.4(COL6A2):c.1252G>A (p.Gly418Arg)
|
rs768681228
|
0.00004
|
NM_001849.4(COL6A2):c.1288G>A (p.Gly430Ser)
|
rs765430501
|
0.00004
|
NM_001849.4(COL6A2):c.1312G>A (p.Asp438Asn)
|
rs202039679
|
0.00004
|
NM_001849.4(COL6A2):c.1465C>T (p.Arg489Trp)
|
rs727502829
|
0.00004
|
NM_001849.4(COL6A2):c.1492C>T (p.Arg498Cys)
|
rs776748046
|
0.00004
|
NM_001849.4(COL6A2):c.1616G>A (p.Arg539Gln)
|
rs768933697
|
0.00004
|
NM_001849.4(COL6A2):c.2153G>A (p.Ser718Asn)
|
rs368641951
|
0.00004
|
NM_001849.4(COL6A2):c.2159G>A (p.Arg720His)
|
rs145140058
|
0.00004
|
NM_001849.4(COL6A2):c.2278G>A (p.Gly760Arg)
|
rs199913294
|
0.00004
|
NM_001849.4(COL6A2):c.2728T>C (p.Tyr910His)
|
rs554257211
|
0.00004
|
NM_001849.4(COL6A2):c.3004T>C (p.Tyr1002His)
|
rs527236952
|
0.00004
|
NM_001849.4(COL6A2):c.503G>T (p.Ser168Ile)
|
rs376564984
|
0.00004
|
NM_001849.4(COL6A2):c.535C>T (p.Arg179Trp)
|
rs201470058
|
0.00004
|
NM_001849.4(COL6A2):c.572C>T (p.Ala191Val)
|
rs747347320
|
0.00004
|
NM_001849.4(COL6A2):c.950G>A (p.Arg317His)
|
rs373782637
|
0.00004
|
NM_001849.4(COL6A2):c.961C>T (p.Pro321Ser)
|
rs745678446
|
0.00004
|
NM_001849.4(COL6A2):c.1052G>A (p.Arg351Gln)
|
rs747093518
|
0.00003
|
NM_001849.4(COL6A2):c.1447C>T (p.Pro483Ser)
|
rs375694341
|
0.00003
|
NM_001849.4(COL6A2):c.169G>A (p.Val57Ile)
|
rs768434256
|
0.00003
|
NM_001849.4(COL6A2):c.1770G>A (p.Thr590=)
|
rs150999832
|
0.00003
|
NM_001849.4(COL6A2):c.1855G>A (p.Val619Ile)
|
rs7283272
|
0.00003
|
NM_001849.4(COL6A2):c.1969+4A>C
|
rs775997945
|
0.00003
|
NM_001849.4(COL6A2):c.1969+6C>T
|
rs374669895
|
0.00003
|
NM_001849.4(COL6A2):c.2084A>C (p.Glu695Ala)
|
rs774611719
|
0.00003
|
NM_001849.4(COL6A2):c.2158C>T (p.Arg720Cys)
|
rs748592288
|
0.00003
|
NM_001849.4(COL6A2):c.2243G>A (p.Cys748Tyr)
|
rs200072495
|
0.00003
|
NM_001849.4(COL6A2):c.2527C>T (p.Arg843Trp)
|
rs376880198
|
0.00003
|
NM_001849.4(COL6A2):c.2773A>C (p.Ile925Leu)
|
rs772894756
|
0.00003
|
NM_001849.4(COL6A2):c.2806G>A (p.Ala936Thr)
|
rs376173871
|
0.00003
|
NM_001849.4(COL6A2):c.2843C>T (p.Thr948Met)
|
rs367980010
|
0.00003
|
NM_001849.4(COL6A2):c.284G>A (p.Arg95His)
|
rs886042690
|
0.00003
|
NM_001849.4(COL6A2):c.581A>G (p.Gln194Arg)
|
rs113509166
|
0.00003
|
NM_001849.4(COL6A2):c.596A>G (p.Gln199Arg)
|
rs886044068
|
0.00003
|
NM_001849.4(COL6A2):c.673G>A (p.Glu225Lys)
|
rs770150581
|
0.00003
|
NM_001849.4(COL6A2):c.863C>T (p.Pro288Leu)
|
rs745566911
|
0.00003
|
NM_001849.4(COL6A2):c.1051C>T (p.Arg351Trp)
|
rs531146637
|
0.00002
|
NM_001849.4(COL6A2):c.1118G>C (p.Gly373Ala)
|
rs773528946
|
0.00002
|
NM_001849.4(COL6A2):c.1236C>T (p.Gly412=)
|
rs752255976
|
0.00002
|
NM_001849.4(COL6A2):c.1270-3C>T
|
rs1488223613
|
0.00002
|
NM_001849.4(COL6A2):c.161C>T (p.Ser54Leu)
|
rs1252515693
|
0.00002
|
NM_001849.4(COL6A2):c.1666G>A (p.Glu556Lys)
|
rs368878639
|
0.00002
|
NM_001849.4(COL6A2):c.1732G>A (p.Glu578Lys)
|
rs771658013
|
0.00002
|
NM_001849.4(COL6A2):c.1807G>A (p.Gly603Arg)
|
rs757603350
|
0.00002
|
NM_001849.4(COL6A2):c.181T>C (p.Ser61Pro)
|
rs990733473
|
0.00002
|
NM_001849.4(COL6A2):c.1937G>A (p.Gly646Asp)
|
rs752366811
|
0.00002
|
NM_001849.4(COL6A2):c.2054C>T (p.Ser685Leu)
|
rs564873527
|
0.00002
|
NM_001849.4(COL6A2):c.2248C>T (p.Arg750Cys)
|
rs200709432
|
0.00002
|
NM_001849.4(COL6A2):c.229T>C (p.Phe77Leu)
|
rs199736749
|
0.00002
|
NM_001849.4(COL6A2):c.2420C>T (p.Pro807Leu)
|
rs768417049
|
0.00002
|
NM_001849.4(COL6A2):c.2780C>G (p.Ala927Gly)
|
rs11554668
|
0.00002
|
NM_001849.4(COL6A2):c.2884C>G (p.His962Asp)
|
rs373184224
|
0.00002
|
NM_001849.4(COL6A2):c.2950G>A (p.Val984Met)
|
rs752700701
|
0.00002
|
NM_001849.4(COL6A2):c.436C>T (p.Arg146Trp)
|
rs762263982
|
0.00002
|
NM_001849.4(COL6A2):c.487G>A (p.Gly163Ser)
|
rs769456044
|
0.00002
|
NM_001849.4(COL6A2):c.557G>A (p.Arg186Gln)
|
rs376291264
|
0.00002
|
NM_001849.4(COL6A2):c.790C>T (p.Arg264Cys)
|
rs760263812
|
0.00002
|
NM_001849.4(COL6A2):c.827C>T (p.Pro276Leu)
|
rs757488307
|
0.00002
|
NM_001849.4(COL6A2):c.1021C>T (p.Pro341Ser)
|
rs2078489585
|
0.00001
|
NM_001849.4(COL6A2):c.1067A>C (p.Tyr356Ser)
|
rs1218992420
|
0.00001
|
NM_001849.4(COL6A2):c.1075G>A (p.Glu359Lys)
|
rs1473389233
|
0.00001
|
NM_001849.4(COL6A2):c.1116G>A (p.Lys372=)
|
rs762160379
|
0.00001
|
NM_001849.4(COL6A2):c.1117-3C>T
|
rs772428654
|
0.00001
|
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg)
|
rs727503883
|
0.00001
|
NM_001849.4(COL6A2):c.1261G>A (p.Gly421Ser)
|
rs1328612494
|
0.00001
|
NM_001849.4(COL6A2):c.1277G>C (p.Arg426Thr)
|
rs760573983
|
0.00001
|
NM_001849.4(COL6A2):c.12C>T (p.Gly4=)
|
rs568730672
|
0.00001
|
NM_001849.4(COL6A2):c.1357C>T (p.Arg453Cys)
|
rs781742477
|
0.00001
|
NM_001849.4(COL6A2):c.136C>T (p.His46Tyr)
|
rs144735844
|
0.00001
|
NM_001849.4(COL6A2):c.1395+6G>A
|
rs886042454
|
0.00001
|
NM_001849.4(COL6A2):c.1403G>A (p.Arg468Gln)
|
rs746541506
|
0.00001
|
NM_001849.4(COL6A2):c.1405G>A (p.Gly469Ser)
|
rs369945453
|
0.00001
|
NM_001849.4(COL6A2):c.1458+3C>T
|
rs794727186
|
0.00001
|
NM_001849.4(COL6A2):c.1463C>T (p.Ser488Phe)
|
rs755539822
|
0.00001
|
NM_001849.4(COL6A2):c.1477G>A (p.Gly493Ser)
|
rs553174831
|
0.00001
|
NM_001849.4(COL6A2):c.1498G>C (p.Asp500His)
|
rs770222615
|
0.00001
|
NM_001849.4(COL6A2):c.1521+5G>A
|
rs760353646
|
0.00001
|
NM_001849.4(COL6A2):c.1550A>C (p.Tyr517Ser)
|
rs780177226
|
0.00001
|
NM_001849.4(COL6A2):c.1572C>T (p.Pro524=)
|
rs552356380
|
0.00001
|
NM_001849.4(COL6A2):c.1600G>A (p.Gly534Ser)
|
rs1307667500
|
0.00001
|
NM_001849.4(COL6A2):c.1673C>T (p.Ala558Val)
|
rs376303610
|
0.00001
|
NM_001849.4(COL6A2):c.1685C>T (p.Pro562Leu)
|
rs370775804
|
0.00001
|
NM_001849.4(COL6A2):c.1744G>A (p.Gly582Ser)
|
rs750533442
|
0.00001
|
NM_001849.4(COL6A2):c.1748C>G (p.Pro583Arg)
|
rs917875281
|
0.00001
|
NM_001849.4(COL6A2):c.1801A>G (p.Thr601Ala)
|
rs1487977724
|
0.00001
|
NM_001849.4(COL6A2):c.1811G>A (p.Cys604Tyr)
|
rs1420375071
|
0.00001
|
NM_001849.4(COL6A2):c.1815C>T (p.Cys605=)
|
rs778401356
|
0.00001
|
NM_001849.4(COL6A2):c.1817-7_1817-6insA
|
rs759572010
|
0.00001
|
NM_001849.4(COL6A2):c.1870G>A (p.Glu624Lys)
|
rs387906607
|
0.00001
|
NM_001849.4(COL6A2):c.1877T>C (p.Ile626Thr)
|
rs766374821
|
0.00001
|
NM_001849.4(COL6A2):c.1925T>C (p.Val642Ala)
|
rs760227367
|
0.00001
|
NM_001849.4(COL6A2):c.2099G>A (p.Gly700Asp)
|
rs2078657536
|
0.00001
|
NM_001849.4(COL6A2):c.2137C>T (p.Arg713Cys)
|
rs139627965
|
0.00001
|
NM_001849.4(COL6A2):c.2197G>A (p.Gly733Arg)
|
rs886042922
|
0.00001
|
NM_001849.4(COL6A2):c.2201G>A (p.Arg734His)
|
rs749451502
|
0.00001
|
NM_001849.4(COL6A2):c.2221G>A (p.Asp741Asn)
|
rs1348937334
|
0.00001
|
NM_001849.4(COL6A2):c.2237C>T (p.Ala746Val)
|
rs761863452
|
0.00001
|
NM_001849.4(COL6A2):c.224C>T (p.Pro75Leu)
|
rs750009012
|
0.00001
|
NM_001849.4(COL6A2):c.2272G>A (p.Gly758Ser)
|
rs773338647
|
0.00001
|
NM_001849.4(COL6A2):c.2363T>C (p.Leu788Pro)
|
rs982360912
|
0.00001
|
NM_001849.4(COL6A2):c.2402T>G (p.Met801Arg)
|
rs727502834
|
0.00001
|
NM_001849.4(COL6A2):c.2421G>A (p.Pro807=)
|
rs774494973
|
0.00001
|
NM_001849.4(COL6A2):c.2425C>T (p.Pro809Ser)
|
rs1044778936
|
0.00001
|
NM_001849.4(COL6A2):c.2435T>C (p.Val812Ala)
|
rs886044025
|
0.00001
|
NM_001849.4(COL6A2):c.2441C>T (p.Pro814Leu)
|
rs775748752
|
0.00001
|
NM_001849.4(COL6A2):c.2480G>A (p.Cys827Tyr)
|
rs11554667
|
0.00001
|
NM_001849.4(COL6A2):c.2483C>T (p.Thr828Met)
|
rs755782924
|
0.00001
|
NM_001849.4(COL6A2):c.2508C>A (p.Phe836Leu)
|
rs727502835
|
0.00001
|
NM_001849.4(COL6A2):c.250G>A (p.Glu84Lys)
|
rs932129947
|
0.00001
|
NM_001849.4(COL6A2):c.2514G>A (p.Leu838=)
|
rs377389081
|
0.00001
|
NM_001849.4(COL6A2):c.2560C>T (p.Arg854Cys)
|
rs775590810
|
0.00001
|
NM_001849.4(COL6A2):c.2581C>T (p.Arg861Trp)
|
rs752291709
|
0.00001
|
NM_001849.4(COL6A2):c.2590A>T (p.Thr864Ser)
|
rs780908409
|
0.00001
|
NM_001849.4(COL6A2):c.2614C>T (p.Pro872Ser)
|
rs1228163562
|
0.00001
|
NM_001849.4(COL6A2):c.2696C>T (p.Thr899Met)
|
rs771341779
|
0.00001
|
NM_001849.4(COL6A2):c.2704C>A (p.His902Asn)
|
rs773974101
|
0.00001
|
NM_001849.4(COL6A2):c.272C>T (p.Ala91Val)
|
rs201842315
|
0.00001
|
NM_001849.4(COL6A2):c.2741T>C (p.Phe914Ser)
|
rs1337272208
|
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.2923G>A (p.Ala975Thr)
|
rs777494468
|
0.00001
|
NM_001849.4(COL6A2):c.2929G>A (p.Gly977Ser)
|
rs370593484
|
0.00001
|
NM_001849.4(COL6A2):c.2948A>T (p.Asp983Val)
|
rs754518986
|
0.00001
|
NM_001849.4(COL6A2):c.2991C>G (p.Phe997Leu)
|
rs1555877365
|
0.00001
|
NM_001849.4(COL6A2):c.3001G>A (p.Asp1001Asn)
|
rs750682710
|
0.00001
|
NM_001849.4(COL6A2):c.3029T>G (p.Phe1010Cys)
|
rs1051148162
|
0.00001
|
NM_001849.4(COL6A2):c.3038G>A (p.Arg1013His)
|
rs751512548
|
0.00001
|
NM_001849.4(COL6A2):c.3060_*2dup (p.Ter1020=)
|
rs751470018
|
0.00001
|
NM_001849.4(COL6A2):c.335G>A (p.Gly112Asp)
|
rs776732203
|
0.00001
|
NM_001849.4(COL6A2):c.340G>A (p.Asp114Asn)
|
rs969934621
|
0.00001
|
NM_001849.4(COL6A2):c.388C>T (p.Arg130Cys)
|
rs557545831
|
0.00001
|
NM_001849.4(COL6A2):c.389G>A (p.Arg130His)
|
rs200387819
|
0.00001
|
NM_001849.4(COL6A2):c.410C>T (p.Ala137Val)
|
rs886044462
|
0.00001
|
NM_001849.4(COL6A2):c.479T>C (p.Ile160Thr)
|
rs1454146707
|
0.00001
|
NM_001849.4(COL6A2):c.493G>A (p.Val165Ile)
|
rs886044102
|
0.00001
|
NM_001849.4(COL6A2):c.550G>T (p.Gly184Cys)
|
rs766523982
|
0.00001
|
NM_001849.4(COL6A2):c.62A>G (p.Gln21Arg)
|
rs751632108
|
0.00001
|
NM_001849.4(COL6A2):c.664G>A (p.Asp222Asn)
|
rs776631856
|
0.00001
|
NM_001849.4(COL6A2):c.694A>G (p.Asn232Asp)
|
rs779287707
|
0.00001
|
NM_001849.4(COL6A2):c.697C>T (p.Arg233Cys)
|
rs1379543505
|
0.00001
|
NM_001849.4(COL6A2):c.709G>A (p.Val237Ile)
|
rs752359061
|
0.00001
|
NM_001849.4(COL6A2):c.715A>G (p.Lys239Glu)
|
rs777108595
|
0.00001
|
NM_001849.4(COL6A2):c.728A>G (p.Tyr243Cys)
|
rs1159588931
|
0.00001
|
NM_001849.4(COL6A2):c.901-3C>T
|
rs112317259
|
0.00001
|
NM_001849.4(COL6A2):c.943G>A (p.Asp315Asn)
|
rs759838639
|
0.00001
|
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser)
|
rs762882543
|
0.00001
|
NC_000021.8:g.(?_47517033)_(47553763_?)dup
|
|
|
NC_000021.8:g.(?_47518024)_47552476dup
|
|
|
NC_000021.8:g.(?_47536545)_(47536748_?)dup
|
|
|
NC_000021.8:g.(?_47551858)_(47552476_?)dup
|
|
|
NC_000021.9:g.(?_46111467)_(46112834_?)dup
|
|
|
NC_000021.9:g.(?_46113998)_(46116063_?)dup
|
|
|
NM_001849.4(COL6A2):c.1009G>A (p.Gly337Arg)
|
rs2123631275
|
|
NM_001849.4(COL6A2):c.100AAC[2] (p.Asn36del)
|
|
|
NM_001849.4(COL6A2):c.1018G>C (p.Gly340Arg)
|
|
|
NM_001849.4(COL6A2):c.1027G>A (p.Gly343Ser)
|
|
|
NM_001849.4(COL6A2):c.1037_1038delinsTT (p.Gly346Val)
|
rs1568930426
|
|
NM_001849.4(COL6A2):c.1039G>A (p.Asp347Asn)
|
|
|
NM_001849.4(COL6A2):c.1045G>A (p.Gly349Arg)
|
rs2078490056
|
|
NM_001849.4(COL6A2):c.1046_1053+1del
|
|
|
NM_001849.4(COL6A2):c.1053+3A>T
|
rs1555873388
|
|
NM_001849.4(COL6A2):c.1053+4dup
|
|
|
NM_001849.4(COL6A2):c.1055delG
|
rs1555873507
|
|
NM_001849.4(COL6A2):c.105C>A (p.Asn35Lys)
|
|
|
NM_001849.4(COL6A2):c.1061A>G (p.Asp354Gly)
|
|
|
NM_001849.4(COL6A2):c.1064G>T (p.Gly355Val)
|
|
|
NM_001849.4(COL6A2):c.1070C>T (p.Pro357Leu)
|
rs199929757
|
|
NM_001849.4(COL6A2):c.1078G>T (p.Ala360Ser)
|
rs1555873523
|
|
NM_001849.4(COL6A2):c.1079C>T (p.Ala360Val)
|
rs2078500027
|
|
NM_001849.4(COL6A2):c.1095G>T (p.Glu365Asp)
|
rs374673302
|
|
NM_001849.4(COL6A2):c.1102G>C (p.Asp368His)
|
|
|
NM_001849.4(COL6A2):c.1112G>T (p.Gly371Val)
|
rs1601229481
|
|
NM_001849.4(COL6A2):c.1116+6T>G
|
|
|
NM_001849.4(COL6A2):c.1121A>G (p.Asp374Gly)
|
|
|
NM_001849.4(COL6A2):c.1124C>G (p.Pro375Arg)
|
rs753834270
|
|
NM_001849.4(COL6A2):c.1125_1133del (p.375PGR[1])
|
rs2123635719
|
|
NM_001849.4(COL6A2):c.112C>T (p.Pro38Ser)
|
rs2078399168
|
|
NM_001849.4(COL6A2):c.1133_1141del (p.375PGR[1])
|
|
|
NM_001849.4(COL6A2):c.1139G>A (p.Arg380His)
|
|
|
NM_001849.4(COL6A2):c.1148C>G (p.Pro383Arg)
|
|
|
NM_001849.4(COL6A2):c.115+6A>G
|
rs886042882
|
|
NM_001849.4(COL6A2):c.1163G>A (p.Gly388Glu)
|
|
|
NM_001849.4(COL6A2):c.1181G>C (p.Gly394Ala)
|
rs756966358
|
|
NM_001849.4(COL6A2):c.1196G>T (p.Ser399Ile)
|
|
|
NM_001849.4(COL6A2):c.1199G>T (p.Gly400Val)
|
rs1555873827
|
|
NM_001849.4(COL6A2):c.1202C>A (p.Ala401Asp)
|
|
|
NM_001849.4(COL6A2):c.1205C>T (p.Pro402Leu)
|
|
|
NM_001849.4(COL6A2):c.1219G>A (p.Val407Met)
|
|
|
NM_001849.4(COL6A2):c.1225G>A (p.Gly409Arg)
|
rs1568931875
|
|
NM_001849.4(COL6A2):c.1240C>T (p.Pro414Ser)
|
|
|
NM_001849.4(COL6A2):c.1249C>G (p.Arg417Gly)
|
rs1248584370
|
|
NM_001849.4(COL6A2):c.124G>T (p.Asp42Tyr)
|
|
|
NM_001849.4(COL6A2):c.1250G>T (p.Arg417Leu)
|
rs371383704
|
|
NM_001849.4(COL6A2):c.1259A>G (p.Lys420Arg)
|
rs2123637568
|
|
NM_001849.4(COL6A2):c.1268C>T (p.Pro423Leu)
|
rs761030439
|
|
NM_001849.4(COL6A2):c.1269G>A (p.Pro423=)
|
rs144136807
|
|
NM_001849.4(COL6A2):c.1273C>T (p.Arg425Cys)
|
rs761330909
|
|
NM_001849.4(COL6A2):c.1286C>T (p.Pro429Leu)
|
|
|
NM_001849.4(COL6A2):c.1296G>C (p.Lys432Asn)
|
|
|
NM_001849.4(COL6A2):c.1319C>T (p.Pro440Leu)
|
|
|
NM_001849.4(COL6A2):c.1324G>T (p.Gly442Trp)
|
|
|
NM_001849.4(COL6A2):c.1330_1332del (p.Lys444del)
|
rs2078532600
|
|
NM_001849.4(COL6A2):c.1332+20C>T
|
rs1222615509
|
|
NM_001849.4(COL6A2):c.1336G>T (p.Asp446Tyr)
|
|
|
NM_001849.4(COL6A2):c.1345C>G (p.Pro449Ala)
|
|
|
NM_001849.4(COL6A2):c.1354C>T (p.Pro452Ser)
|
rs1269914621
|
|
NM_001849.4(COL6A2):c.1378G>A (p.Gly460Ser)
|
|
|
NM_001849.4(COL6A2):c.1386A>C (p.Lys462Asn)
|
|
|
NM_001849.4(COL6A2):c.1395+5G>C
|
rs1373123496
|
|
NM_001849.4(COL6A2):c.1396-26_1396-10del
|
rs1601237036
|
|
NM_001849.4(COL6A2):c.1399G>A (p.Asp467Asn)
|
rs1464567484
|
|
NM_001849.4(COL6A2):c.1399G>C (p.Asp467His)
|
|
|
NM_001849.4(COL6A2):c.1403G>T (p.Arg468Leu)
|
rs746541506
|
|
NM_001849.4(COL6A2):c.140T>C (p.Val47Ala)
|
rs2123614177
|
|
NM_001849.4(COL6A2):c.1418C>A (p.Pro473His)
|
rs1472257957
|
|
NM_001849.4(COL6A2):c.1424G>A (p.Gly475Asp)
|
rs2123645059
|
|
NM_001849.4(COL6A2):c.1426C>T (p.Pro476Ser)
|
|
|
NM_001849.4(COL6A2):c.1430A>G (p.Gln477Arg)
|
|
|
NM_001849.4(COL6A2):c.1458+3_1458+6del
|
rs765084926
|
|
NM_001849.4(COL6A2):c.1458G>C (p.Gln486His)
|
rs2078559618
|
|
NM_001849.4(COL6A2):c.1459-5C>G
|
rs1362389378
|
|
NM_001849.4(COL6A2):c.1465C>G (p.Arg489Gly)
|
rs727502829
|
|
NM_001849.4(COL6A2):c.1466G>C (p.Arg489Pro)
|
rs61735828
|
|
NM_001849.4(COL6A2):c.1474C>T (p.Pro492Ser)
|
rs778917725
|
|
NM_001849.4(COL6A2):c.1488_1514del (p.Arg498_Pro506del)
|
rs2123646706
|
|
NM_001849.4(COL6A2):c.148G>A (p.Val50Met)
|
rs727502826
|
|
NM_001849.4(COL6A2):c.148G>T (p.Val50Leu)
|
|
|
NM_001849.4(COL6A2):c.1516C>A (p.Pro506Thr)
|
|
|
NM_001849.4(COL6A2):c.1519A>G (p.Lys507Glu)
|
|
|
NM_001849.4(COL6A2):c.1521+4C>T
|
rs886043036
|
|
NM_001849.4(COL6A2):c.1522-3C>T
|
|
|
NM_001849.4(COL6A2):c.1531G>C (p.Gly511Arg)
|
|
|
NM_001849.4(COL6A2):c.1537C>G (p.Pro513Ala)
|
rs756315481
|
|
NM_001849.4(COL6A2):c.153G>A (p.Leu51=)
|
|
|
NM_001849.4(COL6A2):c.1559C>A (p.Pro520His)
|
rs2078576778
|
|
NM_001849.4(COL6A2):c.155A>G (p.Asp52Gly)
|
|
|
NM_001849.4(COL6A2):c.1568C>G (p.Ala523Gly)
|
rs769563817
|
|
NM_001849.4(COL6A2):c.1570C>T (p.Pro524Ser)
|
rs2078577021
|
|
NM_001849.4(COL6A2):c.1572+5G>A
|
|
|
NM_001849.4(COL6A2):c.1584C>T (p.Gly528=)
|
|
|
NM_001849.4(COL6A2):c.1589C>G (p.Pro530Arg)
|
|
|
NM_001849.4(COL6A2):c.1597C>T (p.Arg533Cys)
|
|
|
NM_001849.4(COL6A2):c.1609G>A (p.Gly537Arg)
|
|
|
NM_001849.4(COL6A2):c.1613G>A (p.Gly538Asp)
|
|
|
NM_001849.4(COL6A2):c.1619G>T (p.Gly540Val)
|
rs2123650884
|
|
NM_001849.4(COL6A2):c.1625T>G (p.Phe542Cys)
|
rs2123650926
|
|
NM_001849.4(COL6A2):c.1641_1667del (p.Gly549_Pro557del)
|
rs1555874762
|
|
NM_001849.4(COL6A2):c.1651AAAGGAGAG[3] (p.551KGE[3])
|
rs773493556
|
|
NM_001849.4(COL6A2):c.1666G>C (p.Glu556Gln)
|
|
|
NM_001849.4(COL6A2):c.1669C>T (p.Pro557Ser)
|
rs2078589816
|
|
NM_001849.4(COL6A2):c.1671+4_1671+7del
|
rs2078589929
|
|
NM_001849.4(COL6A2):c.1671T>C (p.Pro557=)
|
rs2078589880
|
|
NM_001849.4(COL6A2):c.167G>A (p.Ser56Asn)
|
rs1555871311
|
|
NM_001849.4(COL6A2):c.1682G>T (p.Gly561Val)
|
|
|
NM_001849.4(COL6A2):c.1684C>A (p.Pro562Thr)
|
rs1035008109
|
|
NM_001849.4(COL6A2):c.1685C>G (p.Pro562Arg)
|
|
|
NM_001849.4(COL6A2):c.1690G>A (p.Gly564Ser)
|
rs1172190604
|
|
NM_001849.4(COL6A2):c.1691G>C (p.Gly564Ala)
|
|
|
NM_001849.4(COL6A2):c.1693_1694delinsAG (p.Glu565Arg)
|
rs2078631679
|
|
NM_001849.4(COL6A2):c.1697C>G (p.Pro566Arg)
|
|
|
NM_001849.4(COL6A2):c.16T>A (p.Cys6Ser)
|
rs2078397289
|
|
NM_001849.4(COL6A2):c.1703C>T (p.Pro568Leu)
|
rs2123658612
|
|
NM_001849.4(COL6A2):c.1715G>C (p.Arg572Thr)
|
|
|
NM_001849.4(COL6A2):c.1723C>T (p.Pro575Ser)
|
|
|
NM_001849.4(COL6A2):c.1746_1763del (p.Pro583_Gly588del)
|
|
|
NM_001849.4(COL6A2):c.1750C>A (p.Pro584Thr)
|
rs779979272
|
|
NM_001849.4(COL6A2):c.1751_1770+24dup
|
rs2078635959
|
|
NM_001849.4(COL6A2):c.1758C>A (p.Asp586Glu)
|
rs1568938716
|
|
NM_001849.4(COL6A2):c.1760C>T (p.Pro587Leu)
|
|
|
NM_001849.4(COL6A2):c.1769C>A (p.Thr590Lys)
|
rs142709940
|
|
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr)
|
rs886043225
|
|
NM_001849.4(COL6A2):c.1770G>T (p.Thr590=)
|
|
|
NM_001849.4(COL6A2):c.1784T>A (p.Met595Lys)
|
|
|
NM_001849.4(COL6A2):c.179A>C (p.Gln60Pro)
|
rs147892526
|
|
NM_001849.4(COL6A2):c.1816+3G>A
|
|
|
NM_001849.4(COL6A2):c.1816+6G>A
|
|
|
NM_001849.4(COL6A2):c.1816G>A (p.Asp606Asn)
|
rs747602311
|
|
NM_001849.4(COL6A2):c.1817-16C>G
|
|
|
NM_001849.4(COL6A2):c.1817-2dup
|
|
|
NM_001849.4(COL6A2):c.1817-3C>A
|
rs112645828
|
|
NM_001849.4(COL6A2):c.1817-3C>G
|
rs112645828
|
|
NM_001849.4(COL6A2):c.1817-3C>T
|
rs112645828
|
|
NM_001849.4(COL6A2):c.1835G>C (p.Gly612Ala)
|
|
|
NM_001849.4(COL6A2):c.1838C>G (p.Ala613Gly)
|
|
|
NM_001849.4(COL6A2):c.1843G>A (p.Asp615Asn)
|
|
|
NM_001849.4(COL6A2):c.1846G>C (p.Val616Leu)
|
rs746193653
|
|
NM_001849.4(COL6A2):c.1846G>T (p.Val616Leu)
|
rs746193653
|
|
NM_001849.4(COL6A2):c.1852_1854del (p.Phe618del)
|
|
|
NM_001849.4(COL6A2):c.1865G>A (p.Ser622Asn)
|
rs2078648587
|
|
NM_001849.4(COL6A2):c.1873A>C (p.Ser625Arg)
|
|
|
NM_001849.4(COL6A2):c.1876A>G (p.Ile626Val)
|
|
|
NM_001849.4(COL6A2):c.1889A>G (p.Asn630Ser)
|
|
|
NM_001849.4(COL6A2):c.1906A>T (p.Asn636Tyr)
|
rs2123662036
|
|
NM_001849.4(COL6A2):c.1909T>A (p.Phe637Ile)
|
|
|
NM_001849.4(COL6A2):c.1912_1914del (p.Val638del)
|
rs1568939674
|
|
NM_001849.4(COL6A2):c.1913T>C (p.Val638Ala)
|
rs141919484
|
|
NM_001849.4(COL6A2):c.1913T>G (p.Val638Gly)
|
rs141919484
|
|
NM_001849.4(COL6A2):c.1951G>T (p.Asp651Tyr)
|
|
|
NM_001849.4(COL6A2):c.1969+4A>G
|
rs775997945
|
|
NM_001849.4(COL6A2):c.1970-14C>T
|
rs749228434
|
|
NM_001849.4(COL6A2):c.1970-3C>T
|
rs201879417
|
|
NM_001849.4(COL6A2):c.1975C>T (p.Arg659Cys)
|
rs727502830
|
|
NM_001849.4(COL6A2):c.1976G>A (p.Arg659His)
|
|
|
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro)
|
rs558005986
|
|
NM_001849.4(COL6A2):c.1982G>A (p.Gly661Asp)
|
|
|
NM_001849.4(COL6A2):c.1984G>A (p.Val662Met)
|
|
|
NM_001849.4(COL6A2):c.1987G>A (p.Val663Met)
|
rs2123663062
|
|
NM_001849.4(COL6A2):c.199C>T (p.Leu67Phe)
|
rs2078406730
|
|
NM_001849.4(COL6A2):c.2000A>G (p.His667Arg)
|
rs1245904841
|
|
NM_001849.4(COL6A2):c.2009C>A (p.Thr670Asn)
|
rs886042884
|
|
NM_001849.4(COL6A2):c.2009C>T (p.Thr670Ile)
|
|
|
NM_001849.4(COL6A2):c.2011T>C (p.Phe671Leu)
|
|
|
NM_001849.4(COL6A2):c.2018C>A (p.Ala673Asp)
|
|
|
NM_001849.4(COL6A2):c.2032G>A (p.Asp678Asn)
|
|
|
NM_001849.4(COL6A2):c.2038C>T (p.Arg680Cys)
|
|
|
NM_001849.4(COL6A2):c.2047T>C (p.Ser683Pro)
|
|
|
NM_001849.4(COL6A2):c.2048C>T (p.Ser683Phe)
|
rs1258904789
|
|
NM_001849.4(COL6A2):c.2054C>G (p.Ser685Trp)
|
rs564873527
|
|
NM_001849.4(COL6A2):c.2056A>C (p.Ser686Arg)
|
|
|
NM_001849.4(COL6A2):c.205C>T (p.His69Tyr)
|
|
|
NM_001849.4(COL6A2):c.2076_2078del (p.Lys692del)
|
rs2078657129
|
|
NM_001849.4(COL6A2):c.2079C>A (p.Asn693Lys)
|
|
|
NM_001849.4(COL6A2):c.2083G>C (p.Glu695Gln)
|
rs377376395
|
|
NM_001849.4(COL6A2):c.2088G>C (p.Trp696Cys)
|
|
|
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val)
|
rs1085307668
|
|
NM_001849.4(COL6A2):c.2093_2094delinsTA (p.Ala698Val)
|
|
|
NM_001849.4(COL6A2):c.2107A>C (p.Thr703Pro)
|
|
|
NM_001849.4(COL6A2):c.2116G>A (p.Ala706Thr)
|
|
|
NM_001849.4(COL6A2):c.2116G>C (p.Ala706Pro)
|
rs794727417
|
|
NM_001849.4(COL6A2):c.2120T>C (p.Leu707Pro)
|
rs2123663738
|
|
NM_001849.4(COL6A2):c.2125T>C (p.Phe709Leu)
|
|
|
NM_001849.4(COL6A2):c.2128G>T (p.Ala710Ser)
|
|
|
NM_001849.4(COL6A2):c.2129C>A (p.Ala710Asp)
|
rs1555875708
|
|
NM_001849.4(COL6A2):c.2129C>T (p.Ala710Val)
|
rs1555875708
|
|
NM_001849.4(COL6A2):c.2132A>T (p.Tyr711Phe)
|
|
|
NM_001849.4(COL6A2):c.2138G>A (p.Arg713His)
|
|
|
NM_001849.4(COL6A2):c.2141TCA[1] (p.Ile715del)
|
|
|
NM_001849.4(COL6A2):c.2153_2154delinsTG (p.Ser718Met)
|
rs2123663867
|
|
NM_001849.4(COL6A2):c.2155C>T (p.Arg719Trp)
|
|
|
NM_001849.4(COL6A2):c.2173G>T (p.Val725Leu)
|
rs1555875749
|
|
NM_001849.4(COL6A2):c.2189T>G (p.Ile730Ser)
|
rs1555875759
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.2207A>G (p.Asp736Gly)
|
rs2078660025
|
|
NM_001849.4(COL6A2):c.2209C>A (p.Pro737Thr)
|
rs2123664136
|
|
NM_001849.4(COL6A2):c.2212C>T (p.Arg738Trp)
|
rs2123664140
|
|
NM_001849.4(COL6A2):c.2213G>A (p.Arg738Gln)
|
|
|
NM_001849.4(COL6A2):c.221T>C (p.Val74Ala)
|
|
|
NM_001849.4(COL6A2):c.2224C>T (p.Leu742Phe)
|
|
|
NM_001849.4(COL6A2):c.2236G>A (p.Ala746Thr)
|
|
|
NM_001849.4(COL6A2):c.2249G>A (p.Arg750His)
|
|
|
NM_001849.4(COL6A2):c.2251G>A (p.Asp751Asn)
|
rs375884809
|
|
NM_001849.4(COL6A2):c.2258C>T (p.Thr753Ile)
|
rs886042625
|
|
NM_001849.4(COL6A2):c.2285T>C (p.Met762Thr)
|
|
|
NM_001849.4(COL6A2):c.2286G>A (p.Met762Ile)
|
|
|
NM_001849.4(COL6A2):c.2301C>G (p.His767Gln)
|
|
|
NM_001849.4(COL6A2):c.2311_2325dup (p.Ile775_Ala776insAsnLeuTyrSerIle)
|
|
|
NM_001849.4(COL6A2):c.2314C>T (p.Leu772Phe)
|
|
|
NM_001849.4(COL6A2):c.2317T>C (p.Tyr773His)
|
rs2078662932
|
|
NM_001849.4(COL6A2):c.2318A>C (p.Tyr773Ser)
|
rs1601251344
|
|
NM_001849.4(COL6A2):c.231C>A (p.Phe77Leu)
|
|
|
NM_001849.4(COL6A2):c.2327C>T (p.Ala776Val)
|
|
|
NM_001849.4(COL6A2):c.2334C>A (p.Asp778Glu)
|
rs764165623
|
|
NM_001849.4(COL6A2):c.2338C>T (p.Pro780Ser)
|
|
|
NM_001849.4(COL6A2):c.2347G>A (p.Val783Met)
|
rs1194893303
|
|
NM_001849.4(COL6A2):c.2351G>C (p.Arg784Pro)
|
rs75120695
|
|
NM_001849.4(COL6A2):c.2354A>G (p.Asn785Ser)
|
rs746466184
|
|
NM_001849.4(COL6A2):c.2360C>T (p.Thr787Met)
|
|
|
NM_001849.4(COL6A2):c.2365T>C (p.Phe789Leu)
|
|
|
NM_001849.4(COL6A2):c.2367C>G (p.Phe789Leu)
|
|
|
NM_001849.4(COL6A2):c.2371G>A (p.Asp791Asn)
|
rs1273249543
|
|
NM_001849.4(COL6A2):c.2375T>C (p.Leu792Pro)
|
rs1568940864
|
|
NM_001849.4(COL6A2):c.2386_2388del (p.Lys796del)
|
rs747378168
|
|
NM_001849.4(COL6A2):c.2388G>T (p.Lys796Asn)
|
rs1312736604
|
|
NM_001849.4(COL6A2):c.2404G>A (p.Glu802Lys)
|
|
|
NM_001849.4(COL6A2):c.2417G>A (p.Cys806Tyr)
|
rs749043206
|
|
NM_001849.4(COL6A2):c.2423-3C>T
|
|
|
NM_001849.4(COL6A2):c.2426C>T (p.Pro809Leu)
|
|
|
NM_001849.4(COL6A2):c.2452T>C (p.Cys818Arg)
|
|
|
NM_001849.4(COL6A2):c.2459C>G (p.Thr820Arg)
|
|
|
NM_001849.4(COL6A2):c.2462-3C>T
|
rs766469768
|
|
NM_001849.4(COL6A2):c.2467T>A (p.Ser823Thr)
|
|
|
NM_001849.4(COL6A2):c.2471T>C (p.Val824Ala)
|
rs1259128571
|
|
NM_001849.4(COL6A2):c.2473G>A (p.Ala825Thr)
|
rs778134390
|
|
NM_001849.4(COL6A2):c.2477A>C (p.Gln826Pro)
|
rs2078765932
|
|
NM_001849.4(COL6A2):c.2477A>G (p.Gln826Arg)
|
rs2078765932
|
|
NM_001849.4(COL6A2):c.2485C>G (p.Gln829Glu)
|
|
|
NM_001849.4(COL6A2):c.2497dup (p.Asp833fs)
|
|
|
NM_001849.4(COL6A2):c.2504T>C (p.Val835Ala)
|
|
|
NM_001849.4(COL6A2):c.2513T>C (p.Leu838Pro)
|
rs1568947214
|
|
NM_001849.4(COL6A2):c.2545T>G (p.Phe849Val)
|
rs2078767000
|
|
NM_001849.4(COL6A2):c.2549A>G (p.His850Arg)
|
|
|
NM_001849.4(COL6A2):c.2557C>G (p.Arg853Gly)
|
rs759689002
|
|
NM_001849.4(COL6A2):c.2567T>C (p.Val856Ala)
|
rs886044689
|
|
NM_001849.4(COL6A2):c.2568G>A (p.Val856=)
|
rs2123454687
|
|
NM_001849.4(COL6A2):c.2570_2581dup (p.Ala860_Arg861insGlnGlnValAla)
|
rs753952104
|
|
NM_001849.4(COL6A2):c.2591C>A (p.Thr864Lys)
|
rs200488881
|
|
NM_001849.4(COL6A2):c.2603G>A (p.Arg868Lys)
|
rs865872231
|
|
NM_001849.4(COL6A2):c.2609A>G (p.Asp870Gly)
|
|
|
NM_001849.4(COL6A2):c.262G>A (p.Asp88Asn)
|
|
|
NM_001849.4(COL6A2):c.263A>G (p.Asp88Gly)
|
|
|
NM_001849.4(COL6A2):c.2645T>G (p.Phe882Cys)
|
|
|
NM_001849.4(COL6A2):c.2666A>G (p.Gln889Arg)
|
|
|
NM_001849.4(COL6A2):c.266A>G (p.Gln89Arg)
|
rs770956606
|
|
NM_001849.4(COL6A2):c.2675T>A (p.Phe892Tyr)
|
|
|
NM_001849.4(COL6A2):c.267G>C (p.Gln89His)
|
rs1452398707
|
|
NM_001849.4(COL6A2):c.2684G>A (p.Ser895Asn)
|
rs112139050
|
|
NM_001849.4(COL6A2):c.2689_2691del (p.Asn897del)
|
|
|
NM_001849.4(COL6A2):c.268G>A (p.Val90Met)
|
|
|
NM_001849.4(COL6A2):c.2710G>A (p.Ala904Thr)
|
|
|
NM_001849.4(COL6A2):c.2726A>C (p.Gln909Pro)
|
|
|
NM_001849.4(COL6A2):c.2738_2740del (p.Ser913del)
|
rs777696289
|
|
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del)
|
rs746930351
|
|
NM_001849.4(COL6A2):c.2743T>C (p.Ser915Pro)
|
rs1290912034
|
|
NM_001849.4(COL6A2):c.2744C>T (p.Ser915Leu)
|
|
|
NM_001849.4(COL6A2):c.2746C>T (p.His916Tyr)
|
rs2123455277
|
|
NM_001849.4(COL6A2):c.2750T>C (p.Val917Ala)
|
|
|
NM_001849.4(COL6A2):c.2761G>T (p.Val921Leu)
|
rs398123650
|
|
NM_001849.4(COL6A2):c.2764G>C (p.Val922Leu)
|
|
|
NM_001849.4(COL6A2):c.2768A>G (p.His923Arg)
|
rs2123455354
|
|
NM_001849.4(COL6A2):c.2769C>A (p.His923Gln)
|
rs140419176
|
|
NM_001849.4(COL6A2):c.2769C>G (p.His923Gln)
|
rs140419176
|
|
NM_001849.4(COL6A2):c.2782A>C (p.Ile928Leu)
|
rs1426096612
|
|
NM_001849.4(COL6A2):c.2797C>G (p.Arg933Gly)
|
|
|
NM_001849.4(COL6A2):c.2797C>T (p.Arg933Cys)
|
rs1321329142
|
|
NM_001849.4(COL6A2):c.2798G>T (p.Arg933Leu)
|
rs374384263
|
|
NM_001849.4(COL6A2):c.2818G>A (p.Ala940Thr)
|
|
|
NM_001849.4(COL6A2):c.2832_2927del (p.Phe944_Ala975del)
|
rs2123455541
|
|
NM_001849.4(COL6A2):c.2834T>A (p.Val945Glu)
|
rs2123455553
|
|
NM_001849.4(COL6A2):c.2843C>G (p.Thr948Arg)
|
rs367980010
|
|
NM_001849.4(COL6A2):c.2846_2857dup (p.Asp949_Thr952dup)
|
rs775193167
|
|
NM_001849.4(COL6A2):c.2851G>T (p.Val951Phe)
|
rs111630733
|
|
NM_001849.4(COL6A2):c.2855C>G (p.Thr952Arg)
|
rs147670858
|
|
NM_001849.4(COL6A2):c.2855C>T (p.Thr952Met)
|
rs147670858
|
|
NM_001849.4(COL6A2):c.2858G>A (p.Gly953Asp)
|
|
|
NM_001849.4(COL6A2):c.2873A>C (p.His958Pro)
|
|
|
NM_001849.4(COL6A2):c.2877G>T (p.Glu959Asp)
|
rs1274304291
|
|
NM_001849.4(COL6A2):c.2878T>C (p.Ser960Pro)
|
rs2123455695
|
|
NM_001849.4(COL6A2):c.2884C>A (p.His962Asn)
|
rs373184224
|
|
NM_001849.4(COL6A2):c.2887T>G (p.Ser963Ala)
|
rs771847588
|
|
NM_001849.4(COL6A2):c.2893C>A (p.Arg965Ser)
|
rs201188174
|
|
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro)
|
rs201854898
|
|
NM_001849.4(COL6A2):c.2902_2934dup (p.Asn968_Ser978dup)
|
rs1568948073
|
|
NM_001849.4(COL6A2):c.2905G>A (p.Val969Met)
|
rs763443381
|
|
NM_001849.4(COL6A2):c.2905G>C (p.Val969Leu)
|
rs763443381
|
|
NM_001849.4(COL6A2):c.2908G>A (p.Val970Ile)
|
|
|
NM_001849.4(COL6A2):c.2914A>C (p.Thr972Pro)
|
rs754429992
|
|
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu)
|
rs145959270
|
|
NM_001849.4(COL6A2):c.2950_2958dup (p.Val984_Thr986dup)
|
rs762259160
|
|
NM_001849.4(COL6A2):c.2962C>G (p.Leu988Val)
|
rs781544781
|
|
NM_001849.4(COL6A2):c.2971G>A (p.Gly991Ser)
|
|
|
NM_001849.4(COL6A2):c.2972G>A (p.Gly991Asp)
|
|
|
NM_001849.4(COL6A2):c.2972G>T (p.Gly991Val)
|
|
|
NM_001849.4(COL6A2):c.2977C>G (p.Arg993Gly)
|
|
|
NM_001849.4(COL6A2):c.2978_2979delinsAT (p.Arg993His)
|
rs2123456038
|
|
NM_001849.4(COL6A2):c.2979C>G (p.Arg993=)
|
rs6652
|
|
NM_001849.4(COL6A2):c.298C>T (p.His100Tyr)
|
|
|
NM_001849.4(COL6A2):c.2991C>A (p.Phe997Leu)
|
rs1555877365
|
|
NM_001849.4(COL6A2):c.2998_3000del (p.Lys1000del)
|
rs750794022
|
|
NM_001849.4(COL6A2):c.29T>G (p.Leu10Arg)
|
|
|
NM_001849.4(COL6A2):c.3007G>A (p.Asp1003Asn)
|
rs1601270126
|
|
NM_001849.4(COL6A2):c.300C>G (p.His100Gln)
|
rs765941470
|
|
NM_001849.4(COL6A2):c.3016G>C (p.Ala1006Pro)
|
|
|
NM_001849.4(COL6A2):c.3029T>C (p.Phe1010Ser)
|
|
|
NM_001849.4(COL6A2):c.3031_3042del (p.Phe1011_Phe1014del)
|
rs2078776370
|
|
NM_001849.4(COL6A2):c.3051G>C (p.Trp1017Cys)
|
rs2078776827
|
|
NM_001849.4(COL6A2):c.3059_*12dup (p.Ter1020_Ter(1020_?)(?))
|
|
|
NM_001849.4(COL6A2):c.334G>T (p.Gly112Cys)
|
|
|
NM_001849.4(COL6A2):c.339C>A (p.Ser113Arg)
|
rs1365013453
|
|
NM_001849.4(COL6A2):c.391G>A (p.Gly131Ser)
|
rs561771249
|
|
NM_001849.4(COL6A2):c.3G>A (p.Met1Ile)
|
rs2078397134
|
|
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn)
|
rs983938730
|
|
NM_001849.4(COL6A2):c.409G>A (p.Ala137Thr)
|
rs982087527
|
|
NM_001849.4(COL6A2):c.416C>G (p.Ala139Gly)
|
rs749711324
|
|
NM_001849.4(COL6A2):c.422T>C (p.Met141Thr)
|
rs1568925911
|
|
NM_001849.4(COL6A2):c.425C>G (p.Thr142Arg)
|
|
|
NM_001849.4(COL6A2):c.437G>A (p.Arg146Gln)
|
|
|
NM_001849.4(COL6A2):c.453G>C (p.Lys151Asn)
|
|
|
NM_001849.4(COL6A2):c.463C>T (p.His155Tyr)
|
|
|
NM_001849.4(COL6A2):c.484G>A (p.Asp162Asn)
|
rs1216448596
|
|
NM_001849.4(COL6A2):c.485_499del (p.Asp162_Thr166del)
|
rs2078413886
|
|
NM_001849.4(COL6A2):c.499G>T (p.Gly167Cys)
|
|
|
NM_001849.4(COL6A2):c.514G>A (p.Gly172Ser)
|
|
|
NM_001849.4(COL6A2):c.520_555del (p.Lys174_Ile185del)
|
|
|
NM_001849.4(COL6A2):c.557G>T (p.Arg186Leu)
|
rs376291264
|
|
NM_001849.4(COL6A2):c.565G>T (p.Ala189Ser)
|
rs765361834
|
|
NM_001849.4(COL6A2):c.582G>C (p.Gln194His)
|
rs1601218622
|
|
NM_001849.4(COL6A2):c.58G>A (p.Ala20Thr)
|
rs2078398153
|
|
NM_001849.4(COL6A2):c.604C>T (p.Arg202Trp)
|
|
|
NM_001849.4(COL6A2):c.607G>A (p.Asp203Asn)
|
|
|
NM_001849.4(COL6A2):c.610A>G (p.Ile204Val)
|
|
|
NM_001849.4(COL6A2):c.620C>G (p.Thr207Arg)
|
rs760395633
|
|
NM_001849.4(COL6A2):c.620C>T (p.Thr207Met)
|
rs760395633
|
|
NM_001849.4(COL6A2):c.626A>T (p.His209Leu)
|
rs1413478268
|
|
NM_001849.4(COL6A2):c.627C>G (p.His209Gln)
|
rs545218705
|
|
NM_001849.4(COL6A2):c.653C>T (p.Thr218Ile)
|
|
|
NM_001849.4(COL6A2):c.658C>A (p.Leu220Met)
|
rs773058625
|
|
NM_001849.4(COL6A2):c.659T>C (p.Leu220Pro)
|
rs1208218678
|
|
NM_001849.4(COL6A2):c.662C>T (p.Pro221Leu)
|
|
|
NM_001849.4(COL6A2):c.668C>T (p.Ser223Phe)
|
rs2078418524
|
|
NM_001849.4(COL6A2):c.670A>G (p.Thr224Ala)
|
|
|
NM_001849.4(COL6A2):c.675_680del (p.Glu225_Ile226del)
|
rs775693562
|
|
NM_001849.4(COL6A2):c.676A>G (p.Ile226Val)
|
|
|
NM_001849.4(COL6A2):c.679G>C (p.Asp227His)
|
rs35881321
|
|
NM_001849.4(COL6A2):c.721G>A (p.Glu241Lys)
|
|
|
NM_001849.4(COL6A2):c.734A>G (p.Glu245Gly)
|
|
|
NM_001849.4(COL6A2):c.735+6T>C
|
rs2078423797
|
|
NM_001849.4(COL6A2):c.736-6T>C
|
|
|
NM_001849.4(COL6A2):c.73G>A (p.Val25Ile)
|
rs2123612816
|
|
NM_001849.4(COL6A2):c.742A>G (p.Lys248Glu)
|
|
|
NM_001849.4(COL6A2):c.745G>A (p.Val249Met)
|
rs1454103225
|
|
NM_001849.4(COL6A2):c.757G>A (p.Glu253Lys)
|
|
|
NM_001849.4(COL6A2):c.759A>C (p.Glu253Asp)
|
|
|
NM_001849.4(COL6A2):c.770C>T (p.Pro257Leu)
|
|
|
NM_001849.4(COL6A2):c.799A>C (p.Lys267Gln)
|
rs753370790
|
|
NM_001849.4(COL6A2):c.801+2dup
|
rs2123620848
|
|
NM_001849.4(COL6A2):c.823G>A (p.Glu275Lys)
|
|
|
NM_001849.4(COL6A2):c.826C>T (p.Pro276Ser)
|
|
|
NM_001849.4(COL6A2):c.82C>T (p.Pro28Ser)
|
|
|
NM_001849.4(COL6A2):c.83C>G (p.Pro28Arg)
|
rs778546141
|
|
NM_001849.4(COL6A2):c.855+38_856-32del
|
|
|
NM_001849.4(COL6A2):c.856-24_856-10del
|
|
|
NM_001849.4(COL6A2):c.869T>A (p.Ile290Asn)
|
|
|
NM_001849.4(COL6A2):c.870C>G (p.Ile290Met)
|
|
|
NM_001849.4(COL6A2):c.881T>C (p.Ile294Thr)
|
rs1568928972
|
|
NM_001849.4(COL6A2):c.898A>G (p.Lys300Glu)
|
rs2123626180
|
|
NM_001849.4(COL6A2):c.900+5G>A
|
|
|
NM_001849.4(COL6A2):c.900G>A (p.Lys300=)
|
|
|
NM_001849.4(COL6A2):c.913T>C (p.Phe305Leu)
|
rs1472672400
|
|
NM_001849.4(COL6A2):c.927+5G>C
|
|
|
NM_001849.4(COL6A2):c.954+3A>G
|
rs2123628260
|
|
NM_001849.4(COL6A2):c.959C>T (p.Ala320Val)
|
rs1444127463
|
|
NM_001849.4(COL6A2):c.970G>A (p.Ala324Thr)
|
|
|
NM_001849.4(COL6A2):c.974G>T (p.Gly325Val)
|
|
|
NM_001849.4(COL6A2):c.999+6G>A
|
|
|
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
|
|
|