NM_001849.4(COL6A2):c.2795C>T (p.Pro932Leu)
|
rs117725825
|
0.00233
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
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_004369.4(COL6A3):c.3223C>T (p.Arg1075Trp)
|
rs201962257
|
0.00061
|
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)
|
rs142851023
|
0.00061
|
NM_001848.3(COL6A1):c.202C>T (p.Arg68Cys)
|
rs137964147
|
0.00057
|
NM_004370.6(COL12A1):c.3835+4A>G
|
rs187358458
|
0.00053
|
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala)
|
rs144814689
|
0.00050
|
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu)
|
rs200520924
|
0.00045
|
NM_004370.6(COL12A1):c.8831C>T (p.Pro2944Leu)
|
rs199702595
|
0.00042
|
NM_001848.3(COL6A1):c.2857G>A (p.Ala953Thr)
|
rs150378645
|
0.00038
|
NM_001848.3(COL6A1):c.349G>A (p.Val117Met)
|
rs150686304
|
0.00038
|
NM_004369.4(COL6A3):c.5839-3C>T
|
rs112825341
|
0.00037
|
NM_004370.6(COL12A1):c.922A>T (p.Ile308Phe)
|
rs116980451
|
0.00031
|
NM_001848.3(COL6A1):c.1399-3C>T
|
rs200095847
|
0.00029
|
NM_001849.4(COL6A2):c.*5G>A
|
rs377195134
|
0.00026
|
NM_004369.4(COL6A3):c.8966-3C>A
|
rs190667494
|
0.00026
|
NM_004369.4(COL6A3):c.9494-2A>G
|
rs142546062
|
0.00026
|
NM_001848.3(COL6A1):c.957+6C>T
|
rs374926748
|
0.00025
|
NM_004370.6(COL12A1):c.6922C>G (p.Pro2308Ala)
|
rs55997127
|
0.00025
|
NM_004370.6(COL12A1):c.8548A>G (p.Met2850Val)
|
rs369104842
|
0.00024
|
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)
|
rs375673671
|
0.00023
|
NM_001848.3(COL6A1):c.2614C>T (p.Arg872Trp)
|
rs368561027
|
0.00021
|
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu)
|
rs114284669
|
0.00021
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
0.00021
|
NM_004369.4(COL6A3):c.3556G>A (p.Val1186Met)
|
rs144976132
|
0.00019
|
NM_004370.6(COL12A1):c.5411G>A (p.Arg1804Gln)
|
rs200091648
|
0.00018
|
NM_001849.4(COL6A2):c.1967C>T (p.Thr656Ile)
|
rs371386355
|
0.00017
|
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His)
|
rs190917891
|
0.00017
|
NM_001849.4(COL6A2):c.2927T>C (p.Leu976Ser)
|
rs200200671
|
0.00016
|
NM_004370.6(COL12A1):c.5308A>G (p.Thr1770Ala)
|
rs192345009
|
0.00015
|
NM_004369.4(COL6A3):c.6899G>A (p.Gly2300Glu)
|
rs145572916
|
0.00014
|
NM_004369.4(COL6A3):c.6966+4A>C
|
rs373940717
|
0.00014
|
NM_004369.4(COL6A3):c.6868C>T (p.Arg2290Cys)
|
rs116608946
|
0.00013
|
NM_004369.4(COL6A3):c.7670T>A (p.Ile2557Asn)
|
rs146872525
|
0.00013
|
NM_004369.4(COL6A3):c.5825C>T (p.Pro1942Leu)
|
rs150694150
|
0.00012
|
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_004369.4(COL6A3):c.2305G>A (p.Ala769Thr)
|
rs142719863
|
0.00010
|
NM_004370.6(COL12A1):c.5393C>T (p.Thr1798Met)
|
rs370767331
|
0.00010
|
NM_004369.4(COL6A3):c.3055G>A (p.Gly1019Arg)
|
rs370664069
|
0.00009
|
NM_004369.4(COL6A3):c.7375C>T (p.Arg2459Trp)
|
rs371066956
|
0.00009
|
NM_004370.6(COL12A1):c.1906A>G (p.Lys636Glu)
|
rs754916465
|
0.00009
|
NM_004370.6(COL12A1):c.5369C>G (p.Ser1790Cys)
|
rs199684959
|
0.00009
|
NM_001848.3(COL6A1):c.1777-3C>T
|
rs111263341
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_001849.4(COL6A2):c.2008A>G (p.Thr670Ala)
|
rs753298014
|
0.00008
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_004369.4(COL6A3):c.8236G>A (p.Glu2746Lys)
|
rs111395856
|
0.00008
|
NM_001848.3(COL6A1):c.1684A>G (p.Ile562Val)
|
rs374315921
|
0.00007
|
NM_001849.4(COL6A2):c.2460A>C (p.Thr820=)
|
rs754900547
|
0.00007
|
NM_004369.4(COL6A3):c.5341A>G (p.Ile1781Val)
|
rs145447965
|
0.00007
|
NM_004369.4(COL6A3):c.707C>T (p.Thr236Ile)
|
rs886044270
|
0.00007
|
NM_004370.6(COL12A1):c.188C>T (p.Thr63Met)
|
rs374544349
|
0.00007
|
NM_004370.6(COL12A1):c.5939T>G (p.Ile1980Arg)
|
rs540867293
|
0.00007
|
NM_001848.3(COL6A1):c.1234G>A (p.Glu412Lys)
|
rs751779784
|
0.00006
|
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met)
|
rs769795690
|
0.00006
|
NM_001848.3(COL6A1):c.717+4A>G
|
rs762867111
|
0.00006
|
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_004369.4(COL6A3):c.3944C>T (p.Ala1315Val)
|
rs778458923
|
0.00006
|
NM_004369.4(COL6A3):c.6470C>T (p.Pro2157Leu)
|
rs372281922
|
0.00006
|
NM_004369.4(COL6A3):c.6930+4C>T
|
rs375657891
|
0.00006
|
NM_004369.4(COL6A3):c.7331G>A (p.Arg2444Gln)
|
rs895701604
|
0.00006
|
NM_004369.4(COL6A3):c.7558A>T (p.Thr2520Ser)
|
rs144152285
|
0.00006
|
NM_004370.6(COL12A1):c.2662G>C (p.Ala888Pro)
|
rs373259425
|
0.00006
|
NM_004370.6(COL12A1):c.2714G>A (p.Arg905His)
|
rs369193482
|
0.00006
|
NM_004370.6(COL12A1):c.5230C>T (p.Leu1744=)
|
rs552834799
|
0.00006
|
NM_004370.6(COL12A1):c.5762A>G (p.Asp1921Gly)
|
rs757348453
|
0.00006
|
NM_004370.6(COL12A1):c.6541G>A (p.Asp2181Asn)
|
rs368397177
|
0.00006
|
NM_004370.6(COL12A1):c.7338G>T (p.Leu2446Phe)
|
rs763858637
|
0.00006
|
NM_004370.6(COL12A1):c.7698-3C>T
|
rs760246080
|
0.00006
|
NM_001848.3(COL6A1):c.1694G>A (p.Arg565Gln)
|
rs886057155
|
0.00005
|
NM_001848.3(COL6A1):c.994G>A (p.Gly332Ser)
|
rs11701912
|
0.00005
|
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_004369.4(COL6A3):c.3671C>T (p.Pro1224Leu)
|
rs754323567
|
0.00005
|
NM_004369.4(COL6A3):c.5068G>A (p.Glu1690Lys)
|
rs144451523
|
0.00005
|
NM_004370.6(COL12A1):c.2496A>T (p.Leu832Phe)
|
rs199992321
|
0.00005
|
NM_004370.6(COL12A1):c.3899C>T (p.Ala1300Val)
|
rs199757996
|
0.00005
|
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys)
|
rs749760185
|
0.00005
|
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=)
|
rs373455368
|
0.00005
|
NM_004370.6(COL12A1):c.9110C>T (p.Pro3037Leu)
|
rs370090007
|
0.00005
|
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_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_004369.4(COL6A3):c.2303G>A (p.Arg768His)
|
rs575412915
|
0.00004
|
NM_004369.4(COL6A3):c.3070+6G>A
|
rs761124398
|
0.00004
|
NM_004369.4(COL6A3):c.3545C>T (p.Pro1182Leu)
|
rs768064422
|
0.00004
|
NM_004369.4(COL6A3):c.3679+5G>T
|
rs138878144
|
0.00004
|
NM_004369.4(COL6A3):c.3741G>C (p.Glu1247Asp)
|
rs577927810
|
0.00004
|
NM_004369.4(COL6A3):c.4411A>C (p.Ser1471Arg)
|
rs150321587
|
0.00004
|
NM_004369.4(COL6A3):c.5344G>A (p.Asp1782Asn)
|
rs762035107
|
0.00004
|
NM_004369.4(COL6A3):c.581A>G (p.Asn194Ser)
|
rs771489087
|
0.00004
|
NM_004369.4(COL6A3):c.6461G>A (p.Arg2154Gln)
|
rs145561490
|
0.00004
|
NM_004369.4(COL6A3):c.8567+2dup
|
rs776144262
|
0.00004
|
NM_004370.6(COL12A1):c.1175G>A (p.Arg392His)
|
rs755195861
|
0.00004
|
NM_004370.6(COL12A1):c.1666G>T (p.Ala556Ser)
|
rs776633189
|
0.00004
|
NM_004370.6(COL12A1):c.2164+6A>T
|
rs746467248
|
0.00004
|
NM_004370.6(COL12A1):c.3718C>G (p.Leu1240Val)
|
rs368773405
|
0.00004
|
NM_004370.6(COL12A1):c.4682A>T (p.Glu1561Val)
|
rs944222774
|
0.00004
|
NM_004370.6(COL12A1):c.4828G>A (p.Val1610Ile)
|
rs374525546
|
0.00004
|
NM_004370.6(COL12A1):c.4900G>A (p.Val1634Ile)
|
rs772992461
|
0.00004
|
NM_004370.6(COL12A1):c.5075T>C (p.Phe1692Ser)
|
rs759692428
|
0.00004
|
NM_004370.6(COL12A1):c.5336G>A (p.Arg1779His)
|
rs748487098
|
0.00004
|
NM_004370.6(COL12A1):c.5410C>T (p.Arg1804Trp)
|
rs201973949
|
0.00004
|
NM_004370.6(COL12A1):c.5449A>G (p.Thr1817Ala)
|
rs760315104
|
0.00004
|
NM_004370.6(COL12A1):c.6066G>A (p.Thr2022=)
|
rs754929219
|
0.00004
|
NM_004370.6(COL12A1):c.6067C>T (p.Leu2023=)
|
rs751540913
|
0.00004
|
NM_004370.6(COL12A1):c.6070C>T (p.Pro2024Ser)
|
rs771186535
|
0.00004
|
NM_004370.6(COL12A1):c.6608T>C (p.Leu2203Ser)
|
rs370244195
|
0.00004
|
NM_004370.6(COL12A1):c.6910C>T (p.Pro2304Ser)
|
rs747966606
|
0.00004
|
NM_004370.6(COL12A1):c.741T>G (p.Ile247Met)
|
rs371124522
|
0.00004
|
NM_004370.6(COL12A1):c.7840C>T (p.Pro2614Ser)
|
rs772870762
|
0.00004
|
NM_004370.6(COL12A1):c.7976G>C (p.Ser2659Thr)
|
rs773855825
|
0.00004
|
NM_004370.6(COL12A1):c.8020A>G (p.Ile2674Val)
|
rs1199162597
|
0.00004
|
NM_004370.6(COL12A1):c.8465G>A (p.Arg2822Gln)
|
rs756809634
|
0.00004
|
NM_004370.6(COL12A1):c.9038C>T (p.Pro3013Leu)
|
rs376161354
|
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.1960G>A (p.Glu654Lys)
|
rs375318905
|
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_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_004369.4(COL6A3):c.1574C>T (p.Thr525Met)
|
rs755178814
|
0.00003
|
NM_004369.4(COL6A3):c.1751A>G (p.Asn584Ser)
|
rs375285237
|
0.00003
|
NM_004369.4(COL6A3):c.2993C>T (p.Ser998Leu)
|
rs774161895
|
0.00003
|
NM_004369.4(COL6A3):c.3311C>T (p.Pro1104Leu)
|
rs371991808
|
0.00003
|
NM_004369.4(COL6A3):c.3472G>A (p.Gly1158Ser)
|
rs753056634
|
0.00003
|
NM_004369.4(COL6A3):c.3679+4C>T
|
rs774411894
|
0.00003
|
NM_004369.4(COL6A3):c.4309A>T (p.Ile1437Phe)
|
rs144314743
|
0.00003
|
NM_004369.4(COL6A3):c.4964T>C (p.Phe1655Ser)
|
rs747965230
|
0.00003
|
NM_004369.4(COL6A3):c.5095A>C (p.Lys1699Gln)
|
rs1311406995
|
0.00003
|
NM_004369.4(COL6A3):c.5213G>A (p.Arg1738His)
|
rs774808500
|
0.00003
|
NM_004369.4(COL6A3):c.5326G>T (p.Val1776Phe)
|
rs754788931
|
0.00003
|
NM_004369.4(COL6A3):c.6001A>G (p.Met2001Val)
|
rs201539582
|
0.00003
|
NM_004369.4(COL6A3):c.6224C>T (p.Pro2075Leu)
|
rs113331139
|
0.00003
|
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu)
|
rs398124131
|
0.00003
|
NM_004369.4(COL6A3):c.7660G>A (p.Ala2554Thr)
|
rs786205870
|
0.00003
|
NM_004369.4(COL6A3):c.7687G>C (p.Gly2563Arg)
|
rs780964113
|
0.00003
|
NM_004369.4(COL6A3):c.7768A>G (p.Ile2590Val)
|
rs372278071
|
0.00003
|
NM_004370.6(COL12A1):c.211A>G (p.Thr71Ala)
|
rs775809424
|
0.00003
|
NM_004370.6(COL12A1):c.2141C>T (p.Ala714Val)
|
rs1202850966
|
0.00003
|
NM_004370.6(COL12A1):c.2165T>A (p.Val722Glu)
|
rs199503279
|
0.00003
|
NM_004370.6(COL12A1):c.226A>G (p.Thr76Ala)
|
rs370684538
|
0.00003
|
NM_004370.6(COL12A1):c.2696G>A (p.Gly899Glu)
|
rs201382636
|
0.00003
|
NM_004370.6(COL12A1):c.2713C>T (p.Arg905Cys)
|
rs768127770
|
0.00003
|
NM_004370.6(COL12A1):c.3034A>G (p.Met1012Val)
|
rs1188543260
|
0.00003
|
NM_004370.6(COL12A1):c.3570G>A (p.Met1190Ile)
|
rs536615203
|
0.00003
|
NM_004370.6(COL12A1):c.3785T>C (p.Leu1262Ser)
|
rs774035582
|
0.00003
|
NM_004370.6(COL12A1):c.3818G>C (p.Gly1273Ala)
|
rs377553583
|
0.00003
|
NM_004370.6(COL12A1):c.4000+4C>G
|
rs375772555
|
0.00003
|
NM_004370.6(COL12A1):c.5381G>A (p.Gly1794Asp)
|
rs548889128
|
0.00003
|
NM_004370.6(COL12A1):c.7048G>T (p.Val2350Leu)
|
rs755159927
|
0.00003
|
NM_004370.6(COL12A1):c.7698A>C (p.Ala2566=)
|
rs775579405
|
0.00003
|
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys)
|
rs201337277
|
0.00003
|
NM_004370.6(COL12A1):c.8649A>C (p.Pro2883=)
|
rs900917198
|
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.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
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_004369.4(COL6A3):c.1069C>A (p.Pro357Thr)
|
rs1174559820
|
0.00002
|
NM_004369.4(COL6A3):c.1897+3A>G
|
rs369549597
|
0.00002
|
NM_004369.4(COL6A3):c.2804G>A (p.Arg935Gln)
|
rs762016120
|
0.00002
|
NM_004369.4(COL6A3):c.3700G>A (p.Val1234Met)
|
rs747082651
|
0.00002
|
NM_004369.4(COL6A3):c.4141A>T (p.Ile1381Phe)
|
rs750951694
|
0.00002
|
NM_004369.4(COL6A3):c.4170G>A (p.Ser1390=)
|
rs770489225
|
0.00002
|
NM_004369.4(COL6A3):c.4180T>C (p.Phe1394Leu)
|
rs746868834
|
0.00002
|
NM_004369.4(COL6A3):c.4339G>A (p.Val1447Ile)
|
rs749556880
|
0.00002
|
NM_004369.4(COL6A3):c.4979G>A (p.Arg1660His)
|
rs982703428
|
0.00002
|
NM_004369.4(COL6A3):c.4994T>C (p.Ile1665Thr)
|
rs1034783532
|
0.00002
|
NM_004369.4(COL6A3):c.5369C>T (p.Ala1790Val)
|
rs140513454
|
0.00002
|
NM_004369.4(COL6A3):c.5528T>C (p.Phe1843Ser)
|
rs770876436
|
0.00002
|
NM_004369.4(COL6A3):c.592T>G (p.Phe198Val)
|
rs754618002
|
0.00002
|
NM_004369.4(COL6A3):c.6044A>G (p.Tyr2015Cys)
|
rs768330671
|
0.00002
|
NM_004369.4(COL6A3):c.6210C>T (p.Pro2070=)
|
rs774374140
|
0.00002
|
NM_004369.4(COL6A3):c.6352G>T (p.Asp2118Tyr)
|
rs374476448
|
0.00002
|
NM_004369.4(COL6A3):c.6408G>C (p.Arg2136Ser)
|
rs781675126
|
0.00002
|
NM_004369.4(COL6A3):c.6425G>A (p.Arg2142Gln)
|
rs766968738
|
0.00002
|
NM_004369.4(COL6A3):c.7103G>A (p.Gly2368Asp)
|
rs746420745
|
0.00002
|
NM_004369.4(COL6A3):c.7177C>T (p.Pro2393Ser)
|
rs778720252
|
0.00002
|
NM_004369.4(COL6A3):c.7235G>A (p.Gly2412Glu)
|
rs776496050
|
0.00002
|
NM_004369.4(COL6A3):c.8432G>A (p.Arg2811His)
|
rs769656291
|
0.00002
|
NM_004369.4(COL6A3):c.973G>A (p.Ala325Thr)
|
rs905662421
|
0.00002
|
NM_004370.6(COL12A1):c.1322T>C (p.Ile441Thr)
|
rs1223531902
|
0.00002
|
NM_004370.6(COL12A1):c.1775C>T (p.Ala592Val)
|
rs373292353
|
0.00002
|
NM_004370.6(COL12A1):c.189G>A (p.Thr63=)
|
rs371298920
|
0.00002
|
NM_004370.6(COL12A1):c.2378T>A (p.Ile793Asn)
|
rs759182254
|
0.00002
|
NM_004370.6(COL12A1):c.2552T>A (p.Val851Glu)
|
rs771124556
|
0.00002
|
NM_004370.6(COL12A1):c.274G>T (p.Val92Leu)
|
rs377482121
|
0.00002
|
NM_004370.6(COL12A1):c.2842A>T (p.Thr948Ser)
|
rs932009209
|
0.00002
|
NM_004370.6(COL12A1):c.2957C>G (p.Pro986Arg)
|
rs752812483
|
0.00002
|
NM_004370.6(COL12A1):c.2984-2A>G
|
rs760316411
|
0.00002
|
NM_004370.6(COL12A1):c.3296C>A (p.Thr1099Asn)
|
rs768943327
|
0.00002
|
NM_004370.6(COL12A1):c.3638C>A (p.Ala1213Glu)
|
rs886380438
|
0.00002
|
NM_004370.6(COL12A1):c.3857G>A (p.Arg1286His)
|
rs191757914
|
0.00002
|
NM_004370.6(COL12A1):c.4231A>G (p.Ser1411Gly)
|
rs1385334403
|
0.00002
|
NM_004370.6(COL12A1):c.4255T>A (p.Tyr1419Asn)
|
rs758640189
|
0.00002
|
NM_004370.6(COL12A1):c.469A>G (p.Lys157Glu)
|
rs373002461
|
0.00002
|
NM_004370.6(COL12A1):c.5116G>A (p.Glu1706Lys)
|
rs767343975
|
0.00002
|
NM_004370.6(COL12A1):c.5644G>A (p.Ala1882Thr)
|
rs757943935
|
0.00002
|
NM_004370.6(COL12A1):c.5896G>A (p.Val1966Ile)
|
rs1244436929
|
0.00002
|
NM_004370.6(COL12A1):c.6103G>A (p.Gly2035Ser)
|
rs750263276
|
0.00002
|
NM_004370.6(COL12A1):c.6860A>C (p.Lys2287Thr)
|
rs993593939
|
0.00002
|
NM_004370.6(COL12A1):c.6919C>T (p.Pro2307Ser)
|
rs758186176
|
0.00002
|
NM_004370.6(COL12A1):c.7307G>A (p.Arg2436Gln)
|
rs1315131480
|
0.00002
|
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)
|
rs199633490
|
0.00002
|
NM_004370.6(COL12A1):c.7490T>C (p.Ile2497Thr)
|
rs1228621705
|
0.00002
|
NM_004370.6(COL12A1):c.7526C>G (p.Pro2509Arg)
|
rs781184043
|
0.00002
|
NM_004370.6(COL12A1):c.7569G>A (p.Met2523Ile)
|
rs371624564
|
0.00002
|
NM_004370.6(COL12A1):c.8501C>G (p.Pro2834Arg)
|
rs199693016
|
0.00002
|
NM_004370.6(COL12A1):c.8695G>A (p.Ala2899Thr)
|
rs780457606
|
0.00002
|
NM_004370.6(COL12A1):c.8699C>T (p.Ser2900Phe)
|
rs1198783904
|
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.2147C>T (p.Pro716Leu)
|
rs755589190
|
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
|
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
|
NM_004369.4(COL6A3):c.1022G>A (p.Arg341His)
|
rs140510298
|
0.00001
|
NM_004369.4(COL6A3):c.1045G>A (p.Val349Met)
|
rs1464663206
|
0.00001
|
NM_004369.4(COL6A3):c.1075A>G (p.Ser359Gly)
|
rs114235473
|
0.00001
|
NM_004369.4(COL6A3):c.1147G>A (p.Ala383Thr)
|
rs146429448
|
0.00001
|
NM_004369.4(COL6A3):c.1268C>T (p.Ala423Val)
|
rs181264679
|
0.00001
|
NM_004369.4(COL6A3):c.1380C>G (p.Asn460Lys)
|
rs779588195
|
0.00001
|
NM_004369.4(COL6A3):c.1502C>T (p.Thr501Ile)
|
rs776324215
|
0.00001
|
NM_004369.4(COL6A3):c.1534G>A (p.Val512Met)
|
rs1386395959
|
0.00001
|
NM_004369.4(COL6A3):c.154G>A (p.Glu52Lys)
|
rs188510971
|
0.00001
|
NM_004369.4(COL6A3):c.1559G>C (p.Gly520Ala)
|
rs770496206
|
0.00001
|
NM_004369.4(COL6A3):c.1570T>C (p.Tyr524His)
|
rs993649247
|
0.00001
|
NM_004369.4(COL6A3):c.1576G>A (p.Gly526Ser)
|
rs780262157
|
0.00001
|
NM_004369.4(COL6A3):c.1583C>T (p.Ala528Val)
|
rs756181209
|
0.00001
|
NM_004369.4(COL6A3):c.1627T>C (p.Tyr543His)
|
rs539057609
|
0.00001
|
NM_004369.4(COL6A3):c.1639G>A (p.Glu547Lys)
|
rs1278327904
|
0.00001
|
NM_004369.4(COL6A3):c.163T>G (p.Phe55Val)
|
rs753189030
|
0.00001
|
NM_004369.4(COL6A3):c.1669A>G (p.Thr557Ala)
|
rs1362702190
|
0.00001
|
NM_004369.4(COL6A3):c.1759G>T (p.Ala587Ser)
|
rs2077990679
|
0.00001
|
NM_004369.4(COL6A3):c.1762G>A (p.Asp588Asn)
|
rs886043408
|
0.00001
|
NM_004369.4(COL6A3):c.1897+6G>A
|
rs1189511183
|
0.00001
|
NM_004369.4(COL6A3):c.2071T>C (p.Phe691Leu)
|
rs1347014329
|
0.00001
|
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile)
|
rs755052076
|
0.00001
|
NM_004369.4(COL6A3):c.2260C>A (p.Gln754Lys)
|
rs763798987
|
0.00001
|
NM_004369.4(COL6A3):c.2284G>A (p.Ala762Thr)
|
rs759150949
|
0.00001
|
NM_004369.4(COL6A3):c.2360A>G (p.Glu787Gly)
|
rs773202559
|
0.00001
|
NM_004369.4(COL6A3):c.2378C>T (p.Pro793Leu)
|
rs747957874
|
0.00001
|
NM_004369.4(COL6A3):c.2397G>A (p.Met799Ile)
|
rs768905903
|
0.00001
|
NM_004369.4(COL6A3):c.260C>G (p.Pro87Arg)
|
rs200887514
|
0.00001
|
NM_004369.4(COL6A3):c.2627C>T (p.Ala876Val)
|
rs771091001
|
0.00001
|
NM_004369.4(COL6A3):c.2633C>G (p.Ala878Gly)
|
rs1326943912
|
0.00001
|
NM_004369.4(COL6A3):c.2665C>T (p.Arg889Cys)
|
rs201327438
|
0.00001
|
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys)
|
rs760380736
|
0.00001
|
NM_004369.4(COL6A3):c.2722A>T (p.Ile908Phe)
|
rs1370199768
|
0.00001
|
NM_004369.4(COL6A3):c.2732G>A (p.Gly911Asp)
|
rs149310819
|
0.00001
|
NM_004369.4(COL6A3):c.2821C>T (p.Leu941Phe)
|
rs1441141878
|
0.00001
|
NM_004369.4(COL6A3):c.2822T>C (p.Leu941Pro)
|
rs1339733240
|
0.00001
|
NM_004369.4(COL6A3):c.2895G>T (p.Gln965His)
|
rs775993027
|
0.00001
|
NM_004369.4(COL6A3):c.2908C>T (p.Pro970Ser)
|
rs1226873582
|
0.00001
|
NM_004369.4(COL6A3):c.3053A>G (p.Asn1018Ser)
|
rs375167315
|
0.00001
|
NM_004369.4(COL6A3):c.3067C>T (p.Pro1023Ser)
|
rs556864605
|
0.00001
|
NM_004369.4(COL6A3):c.3115G>A (p.Gly1039Ser)
|
rs1465296993
|
0.00001
|
NM_004369.4(COL6A3):c.3127G>A (p.Gly1043Ser)
|
rs748313591
|
0.00001
|
NM_004369.4(COL6A3):c.3197G>A (p.Arg1066His)
|
rs768971873
|
0.00001
|
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn)
|
rs778403814
|
0.00001
|
NM_004369.4(COL6A3):c.322A>G (p.Asn108Asp)
|
rs2078395425
|
0.00001
|
NM_004369.4(COL6A3):c.3238T>A (p.Phe1080Ile)
|
rs761490778
|
0.00001
|
NM_004369.4(COL6A3):c.3257T>A (p.Met1086Lys)
|
rs1425555208
|
0.00001
|
NM_004369.4(COL6A3):c.3272T>A (p.Val1091Asp)
|
rs745854120
|
0.00001
|
NM_004369.4(COL6A3):c.3319A>G (p.Asn1107Asp)
|
rs1574710031
|
0.00001
|
NM_004369.4(COL6A3):c.3392G>A (p.Gly1131Asp)
|
rs769494656
|
0.00001
|
NM_004369.4(COL6A3):c.3409A>T (p.Ile1137Phe)
|
rs2077785777
|
0.00001
|
NM_004369.4(COL6A3):c.3424G>A (p.Asp1142Asn)
|
rs777599612
|
0.00001
|
NM_004369.4(COL6A3):c.3569C>A (p.Thr1190Asn)
|
rs369994205
|
0.00001
|
NM_004369.4(COL6A3):c.3617C>T (p.Thr1206Ile)
|
rs949598599
|
0.00001
|
NM_004369.4(COL6A3):c.3619C>A (p.Gln1207Lys)
|
rs886042393
|
0.00001
|
NM_004369.4(COL6A3):c.3685G>A (p.Gly1229Ser)
|
rs1321693848
|
0.00001
|
NM_004369.4(COL6A3):c.3715G>A (p.Asp1239Asn)
|
rs563617159
|
0.00001
|
NM_004369.4(COL6A3):c.3809G>A (p.Arg1270Gln)
|
rs1057518127
|
0.00001
|
NM_004369.4(COL6A3):c.3837C>A (p.Asp1279Glu)
|
rs372089952
|
0.00001
|
NM_004369.4(COL6A3):c.3859A>T (p.Asn1287Tyr)
|
rs35799634
|
0.00001
|
NM_004369.4(COL6A3):c.4070T>C (p.Val1357Ala)
|
rs1480888719
|
0.00001
|
NM_004369.4(COL6A3):c.416G>T (p.Gly139Val)
|
rs780669785
|
0.00001
|
NM_004369.4(COL6A3):c.4199T>A (p.Leu1400Gln)
|
rs1210132500
|
0.00001
|
NM_004369.4(COL6A3):c.4306G>C (p.Asp1436His)
|
rs1168273415
|
0.00001
|
NM_004369.4(COL6A3):c.4604G>A (p.Arg1535His)
|
rs115765346
|
0.00001
|
NM_004369.4(COL6A3):c.4795T>C (p.Phe1599Leu)
|
rs911848582
|
0.00001
|
NM_004369.4(COL6A3):c.4819G>A (p.Glu1607Lys)
|
rs1386145634
|
0.00001
|
NM_004369.4(COL6A3):c.4823G>A (p.Arg1608Lys)
|
rs931661932
|
0.00001
|
NM_004369.4(COL6A3):c.5003C>T (p.Thr1668Ile)
|
rs1341078916
|
0.00001
|
NM_004369.4(COL6A3):c.503C>T (p.Ala168Val)
|
rs757496683
|
0.00001
|
NM_004369.4(COL6A3):c.5045A>G (p.Gln1682Arg)
|
rs1026210962
|
0.00001
|
NM_004369.4(COL6A3):c.5113G>A (p.Ala1705Thr)
|
rs886042488
|
0.00001
|
NM_004369.4(COL6A3):c.5138G>A (p.Gly1713Glu)
|
rs779425587
|
0.00001
|
NM_004369.4(COL6A3):c.5143A>G (p.Arg1715Gly)
|
rs1365983591
|
0.00001
|
NM_004369.4(COL6A3):c.514G>A (p.Val172Met)
|
rs1270503233
|
0.00001
|
NM_004369.4(COL6A3):c.5182G>A (p.Val1728Ile)
|
rs772640905
|
0.00001
|
NM_004369.4(COL6A3):c.5222A>T (p.Gln1741Leu)
|
rs769177221
|
0.00001
|
NM_004369.4(COL6A3):c.5253G>A (p.Thr1751=)
|
rs886043174
|
0.00001
|
NM_004369.4(COL6A3):c.5264C>T (p.Ser1755Leu)
|
rs764975992
|
0.00001
|
NM_004369.4(COL6A3):c.5330G>T (p.Gly1777Val)
|
rs1477823319
|
0.00001
|
NM_004369.4(COL6A3):c.5339A>G (p.Asn1780Ser)
|
rs750040219
|
0.00001
|
NM_004369.4(COL6A3):c.5392C>T (p.Arg1798Cys)
|
rs886044508
|
0.00001
|
NM_004369.4(COL6A3):c.5432A>G (p.Gln1811Arg)
|
rs751626953
|
0.00001
|
NM_004369.4(COL6A3):c.5461C>T (p.His1821Tyr)
|
rs2077562058
|
0.00001
|
NM_004369.4(COL6A3):c.5534G>T (p.Gly1845Val)
|
rs747200439
|
0.00001
|
NM_004369.4(COL6A3):c.5542G>A (p.Asp1848Asn)
|
rs78904746
|
0.00001
|
NM_004369.4(COL6A3):c.5642G>A (p.Arg1881His)
|
rs748330667
|
0.00001
|
NM_004369.4(COL6A3):c.5666T>A (p.Val1889Glu)
|
rs1423516861
|
0.00001
|
NM_004369.4(COL6A3):c.5684C>T (p.Ser1895Leu)
|
rs760532694
|
0.00001
|
NM_004369.4(COL6A3):c.5748C>A (p.Asn1916Lys)
|
rs1159000538
|
0.00001
|
NM_004369.4(COL6A3):c.575C>T (p.Pro192Leu)
|
rs563800854
|
0.00001
|
NM_004369.4(COL6A3):c.5777C>T (p.Thr1926Met)
|
rs763172498
|
0.00001
|
NM_004369.4(COL6A3):c.5824C>G (p.Pro1942Ala)
|
rs1293700251
|
0.00001
|
NM_004369.4(COL6A3):c.5993G>A (p.Arg1998Gln)
|
rs767725940
|
0.00001
|
NM_004369.4(COL6A3):c.6005A>T (p.Tyr2002Phe)
|
rs763429012
|
0.00001
|
NM_004369.4(COL6A3):c.6054G>A (p.Ala2018=)
|
rs367696163
|
0.00001
|
NM_004369.4(COL6A3):c.6127C>T (p.Arg2043Cys)
|
rs1001689383
|
0.00001
|
NM_004369.4(COL6A3):c.6156+5G>A
|
rs112374074
|
0.00001
|
NM_004369.4(COL6A3):c.6201G>C (p.Glu2067Asp)
|
rs765647487
|
0.00001
|
NM_004369.4(COL6A3):c.6211-9del
|
rs1280994015
|
0.00001
|
NM_004369.4(COL6A3):c.6242C>G (p.Thr2081Ser)
|
rs1364892747
|
0.00001
|
NM_004369.4(COL6A3):c.6309+4T>G
|
rs1421626951
|
0.00001
|
NM_004369.4(COL6A3):c.6315A>C (p.Glu2105Asp)
|
rs1235042491
|
0.00001
|
NM_004369.4(COL6A3):c.6469C>G (p.Pro2157Ala)
|
rs746104217
|
0.00001
|
NM_004369.4(COL6A3):c.6471G>A (p.Pro2157=)
|
rs1349524156
|
0.00001
|
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser)
|
rs766458058
|
0.00001
|
NM_004369.4(COL6A3):c.6545C>T (p.Pro2182Leu)
|
rs761812649
|
0.00001
|
NM_004369.4(COL6A3):c.6592-3C>T
|
rs760143724
|
0.00001
|
NM_004369.4(COL6A3):c.6592G>A (p.Gly2198Ser)
|
rs1257553370
|
0.00001
|
NM_004369.4(COL6A3):c.6677C>T (p.Thr2226Ile)
|
rs376621780
|
0.00001
|
NM_004369.4(COL6A3):c.6691-3C>T
|
rs757686067
|
0.00001
|
NM_004369.4(COL6A3):c.675G>C (p.Arg225Ser)
|
rs1330724943
|
0.00001
|
NM_004369.4(COL6A3):c.6799G>A (p.Gly2267Ser)
|
rs749855513
|
0.00001
|
NM_004369.4(COL6A3):c.6833C>T (p.Pro2278Leu)
|
rs773775745
|
0.00001
|
NM_004369.4(COL6A3):c.6838C>A (p.Pro2280Thr)
|
rs779359869
|
0.00001
|
NM_004369.4(COL6A3):c.6860G>A (p.Arg2287Gln)
|
rs777794580
|
0.00001
|
NM_004369.4(COL6A3):c.6878C>T (p.Thr2293Met)
|
rs759657526
|
0.00001
|
NM_004369.4(COL6A3):c.6890G>C (p.Gly2297Ala)
|
rs886043576
|
0.00001
|
NM_004369.4(COL6A3):c.6920G>C (p.Arg2307Thr)
|
rs778845754
|
0.00001
|
NM_004369.4(COL6A3):c.6934G>A (p.Glu2312Lys)
|
rs1282952198
|
0.00001
|
NM_004369.4(COL6A3):c.6973C>T (p.Pro2325Ser)
|
rs886044392
|
0.00001
|
NM_004369.4(COL6A3):c.6979G>A (p.Glu2327Lys)
|
rs1435064229
|
0.00001
|
NM_004369.4(COL6A3):c.7029+3A>G
|
rs886044464
|
0.00001
|
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu)
|
rs367725413
|
0.00001
|
NM_004369.4(COL6A3):c.704T>C (p.Ile235Thr)
|
rs886043065
|
0.00001
|
NM_004369.4(COL6A3):c.709+4A>G
|
rs1458579992
|
0.00001
|
NM_004369.4(COL6A3):c.709+8C>T
|
rs779535244
|
0.00001
|
NM_004369.4(COL6A3):c.7123G>A (p.Asp2375Asn)
|
rs778371231
|
0.00001
|
NM_004369.4(COL6A3):c.7224C>G (p.Asp2408Glu)
|
rs377084627
|
0.00001
|
NM_004369.4(COL6A3):c.7265G>A (p.Arg2422Gln)
|
rs748029252
|
0.00001
|
NM_004369.4(COL6A3):c.7282A>G (p.Ile2428Val)
|
rs1462967965
|
0.00001
|
NM_004369.4(COL6A3):c.7290T>G (p.Asn2430Lys)
|
rs900113844
|
0.00001
|
NM_004369.4(COL6A3):c.7311C>G (p.Ser2437Arg)
|
rs781087176
|
0.00001
|
NM_004369.4(COL6A3):c.7364C>A (p.Thr2455Asn)
|
rs1269973980
|
0.00001
|
NM_004369.4(COL6A3):c.7367C>T (p.Thr2456Met)
|
rs747074064
|
0.00001
|
NM_004369.4(COL6A3):c.7391A>G (p.Lys2464Arg)
|
rs1445471566
|
0.00001
|
NM_004369.4(COL6A3):c.7477T>C (p.Phe2493Leu)
|
rs756868798
|
0.00001
|
NM_004369.4(COL6A3):c.7514G>T (p.Gly2505Val)
|
rs794727591
|
0.00001
|
NM_004369.4(COL6A3):c.7676A>G (p.Asn2559Ser)
|
rs1009561726
|
0.00001
|
NM_004369.4(COL6A3):c.7691A>T (p.His2564Leu)
|
rs886055804
|
0.00001
|
NM_004369.4(COL6A3):c.779T>C (p.Val260Ala)
|
rs767993846
|
0.00001
|
NM_004369.4(COL6A3):c.7855G>A (p.Asp2619Asn)
|
rs756654349
|
0.00001
|
NM_004369.4(COL6A3):c.7976A>G (p.Gln2659Arg)
|
rs886044041
|
0.00001
|
NM_004369.4(COL6A3):c.802C>T (p.Leu268Phe)
|
rs572430889
|
0.00001
|
NM_004369.4(COL6A3):c.8122C>G (p.Gln2708Glu)
|
rs778195223
|
0.00001
|
NM_004369.4(COL6A3):c.8155A>G (p.Ile2719Val)
|
rs762902561
|
0.00001
|
NM_004369.4(COL6A3):c.8209A>C (p.Lys2737Gln)
|
rs111764507
|
0.00001
|
NM_004369.4(COL6A3):c.8212A>T (p.Ile2738Phe)
|
rs141344389
|
0.00001
|
NM_004369.4(COL6A3):c.8263G>A (p.Ala2755Thr)
|
rs775790310
|
0.00001
|
NM_004369.4(COL6A3):c.8290T>G (p.Cys2764Gly)
|
rs779036168
|
0.00001
|
NM_004369.4(COL6A3):c.8310G>A (p.Val2770=)
|
rs766217603
|
0.00001
|
NM_004369.4(COL6A3):c.8375A>G (p.Asp2792Gly)
|
rs886044347
|
0.00001
|
NM_004369.4(COL6A3):c.8422C>T (p.Pro2808Ser)
|
rs1335582737
|
0.00001
|
NM_004369.4(COL6A3):c.8431C>T (p.Arg2811Cys)
|
rs371361651
|
0.00001
|
NM_004369.4(COL6A3):c.8437G>A (p.Gly2813Arg)
|
rs146131332
|
0.00001
|
NM_004369.4(COL6A3):c.8498G>A (p.Arg2833Lys)
|
rs755510736
|
0.00001
|
NM_004369.4(COL6A3):c.8522G>A (p.Gly2841Glu)
|
rs1296360526
|
0.00001
|
NM_004369.4(COL6A3):c.8807T>C (p.Val2936Ala)
|
rs1218467207
|
0.00001
|
NM_004369.4(COL6A3):c.8861C>T (p.Pro2954Leu)
|
rs766551222
|
0.00001
|
NM_004369.4(COL6A3):c.8966-6T>C
|
rs756239147
|
0.00001
|
NM_004369.4(COL6A3):c.9082C>T (p.His3028Tyr)
|
rs745651769
|
0.00001
|
NM_004369.4(COL6A3):c.911A>G (p.Gln304Arg)
|
rs1370564126
|
0.00001
|
NM_004369.4(COL6A3):c.9229+4A>C
|
rs749872311
|
0.00001
|
NM_004369.4(COL6A3):c.9248C>A (p.Pro3083His)
|
rs760496428
|
0.00001
|
NM_004369.4(COL6A3):c.9250C>T (p.Pro3084Ser)
|
rs1468004640
|
0.00001
|
NM_004369.4(COL6A3):c.9290T>C (p.Leu3097Pro)
|
rs886042363
|
0.00001
|
NM_004369.4(COL6A3):c.9352G>A (p.Glu3118Lys)
|
rs755613566
|
0.00001
|
NM_004369.4(COL6A3):c.9398A>G (p.Asn3133Ser)
|
rs1699901008
|
0.00001
|
NM_004369.4(COL6A3):c.9417A>G (p.Arg3139=)
|
rs1215789317
|
0.00001
|
NM_004369.4(COL6A3):c.9451A>G (p.Lys3151Glu)
|
rs371468515
|
0.00001
|
NM_004369.4(COL6A3):c.98A>G (p.Lys33Arg)
|
rs781141962
|
0.00001
|
NM_004370.6(COL12A1):c.100A>G (p.Lys34Glu)
|
rs747183950
|
0.00001
|
NM_004370.6(COL12A1):c.1029G>A (p.Met343Ile)
|
rs780955667
|
0.00001
|
NM_004370.6(COL12A1):c.103A>G (p.Ile35Val)
|
rs780247302
|
0.00001
|
NM_004370.6(COL12A1):c.1065T>A (p.Asn355Lys)
|
rs1769480073
|
0.00001
|
NM_004370.6(COL12A1):c.1115C>T (p.Thr372Ile)
|
rs922525519
|
0.00001
|
NM_004370.6(COL12A1):c.1133A>G (p.His378Arg)
|
rs1210901422
|
0.00001
|
NM_004370.6(COL12A1):c.1135G>C (p.Ala379Pro)
|
rs779083996
|
0.00001
|
NM_004370.6(COL12A1):c.1148G>C (p.Gly383Ala)
|
rs1310849098
|
0.00001
|
NM_004370.6(COL12A1):c.1174C>T (p.Arg392Cys)
|
rs970722197
|
0.00001
|
NM_004370.6(COL12A1):c.1177G>A (p.Asp393Asn)
|
rs369309158
|
0.00001
|
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)
|
rs201343487
|
0.00001
|
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)
|
rs377285294
|
0.00001
|
NM_004370.6(COL12A1):c.1289-3C>T
|
rs375570066
|
0.00001
|
NM_004370.6(COL12A1):c.1300G>A (p.Gly434Ser)
|
rs771816024
|
0.00001
|
NM_004370.6(COL12A1):c.1375G>A (p.Val459Ile)
|
rs368199250
|
0.00001
|
NM_004370.6(COL12A1):c.1433A>T (p.Gln478Leu)
|
rs770461984
|
0.00001
|
NM_004370.6(COL12A1):c.1434G>C (p.Gln478His)
|
rs762385473
|
0.00001
|
NM_004370.6(COL12A1):c.1445T>G (p.Val482Gly)
|
rs1445434863
|
0.00001
|
NM_004370.6(COL12A1):c.1456C>T (p.Arg486Trp)
|
rs371505180
|
0.00001
|
NM_004370.6(COL12A1):c.1492A>G (p.Thr498Ala)
|
rs753897086
|
0.00001
|
NM_004370.6(COL12A1):c.1564G>A (p.Ala522Thr)
|
rs1292052246
|
0.00001
|
NM_004370.6(COL12A1):c.1620T>A (p.Asn540Lys)
|
rs1440470491
|
0.00001
|
NM_004370.6(COL12A1):c.1667C>T (p.Ala556Val)
|
rs538463802
|
0.00001
|
NM_004370.6(COL12A1):c.1738G>A (p.Val580Ile)
|
rs758637945
|
0.00001
|
NM_004370.6(COL12A1):c.1783C>A (p.His595Asn)
|
rs370544100
|
0.00001
|
NM_004370.6(COL12A1):c.1831G>C (p.Glu611Gln)
|
rs1478514196
|
0.00001
|
NM_004370.6(COL12A1):c.1841A>C (p.Gln614Pro)
|
rs1202194413
|
0.00001
|
NM_004370.6(COL12A1):c.1934C>T (p.Ser645Phe)
|
rs1031869609
|
0.00001
|
NM_004370.6(COL12A1):c.2032G>A (p.Val678Met)
|
rs749609293
|
0.00001
|
NM_004370.6(COL12A1):c.2083A>G (p.Thr695Ala)
|
rs758201181
|
0.00001
|
NM_004370.6(COL12A1):c.2094G>C (p.Leu698Phe)
|
rs756368336
|
0.00001
|
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val)
|
rs1013873051
|
0.00001
|
NM_004370.6(COL12A1):c.214C>A (p.Leu72Ile)
|
rs1318884120
|
0.00001
|
NM_004370.6(COL12A1):c.224G>A (p.Ser75Asn)
|
rs1198986280
|
0.00001
|
NM_004370.6(COL12A1):c.2256A>G (p.Arg752=)
|
rs370677855
|
0.00001
|
NM_004370.6(COL12A1):c.2324G>A (p.Arg775Lys)
|
rs1341266694
|
0.00001
|
NM_004370.6(COL12A1):c.2340G>T (p.Glu780Asp)
|
rs931765391
|
0.00001
|
NM_004370.6(COL12A1):c.244T>G (p.Ser82Ala)
|
rs941358850
|
0.00001
|
NM_004370.6(COL12A1):c.2477C>T (p.Thr826Met)
|
rs1369556861
|
0.00001
|
NM_004370.6(COL12A1):c.2513C>T (p.Pro838Leu)
|
rs368537733
|
0.00001
|
NM_004370.6(COL12A1):c.2522T>A (p.Val841Glu)
|
rs375671490
|
0.00001
|
NM_004370.6(COL12A1):c.2581G>A (p.Val861Met)
|
rs780466316
|
0.00001
|
NM_004370.6(COL12A1):c.2592T>G (p.Asp864Glu)
|
rs539562135
|
0.00001
|
NM_004370.6(COL12A1):c.2638G>A (p.Ala880Thr)
|
rs568432319
|
0.00001
|
NM_004370.6(COL12A1):c.2654C>G (p.Ala885Gly)
|
rs371518967
|
0.00001
|
NM_004370.6(COL12A1):c.2680G>A (p.Ala894Thr)
|
rs1415214085
|
0.00001
|
NM_004370.6(COL12A1):c.2744A>T (p.Asp915Val)
|
rs774904567
|
0.00001
|
NM_004370.6(COL12A1):c.2770T>C (p.Tyr924His)
|
rs1768261055
|
0.00001
|
NM_004370.6(COL12A1):c.2890A>C (p.Asn964His)
|
rs370188326
|
0.00001
|
NM_004370.6(COL12A1):c.289T>C (p.Tyr97His)
|
rs1477957297
|
0.00001
|
NM_004370.6(COL12A1):c.2933C>G (p.Thr978Ser)
|
rs944768236
|
0.00001
|
NM_004370.6(COL12A1):c.2983+5G>A
|
rs1064794720
|
0.00001
|
NM_004370.6(COL12A1):c.2984-3C>T
|
rs1394199507
|
0.00001
|
NM_004370.6(COL12A1):c.3044C>A (p.Thr1015Lys)
|
rs774087407
|
0.00001
|
NM_004370.6(COL12A1):c.3079C>T (p.Arg1027Cys)
|
rs760621245
|
0.00001
|
NM_004370.6(COL12A1):c.3130C>G (p.Pro1044Ala)
|
rs200490883
|
0.00001
|
NM_004370.6(COL12A1):c.3149C>T (p.Thr1050Ile)
|
rs1376226675
|
0.00001
|
NM_004370.6(COL12A1):c.32C>T (p.Ala11Val)
|
rs751589202
|
0.00001
|
NM_004370.6(COL12A1):c.3310C>T (p.Arg1104Ter)
|
rs1329022055
|
0.00001
|
NM_004370.6(COL12A1):c.3341T>C (p.Val1114Ala)
|
rs1767720355
|
0.00001
|
NM_004370.6(COL12A1):c.3346G>T (p.Gly1116Cys)
|
rs1337121359
|
0.00001
|
NM_004370.6(COL12A1):c.344G>A (p.Gly115Asp)
|
rs749832842
|
0.00001
|
NM_004370.6(COL12A1):c.3485A>T (p.Asp1162Val)
|
rs770692332
|
0.00001
|
NM_004370.6(COL12A1):c.350C>T (p.Ser117Leu)
|
rs753747530
|
0.00001
|
NM_004370.6(COL12A1):c.3527C>A (p.Thr1176Asn)
|
rs1003693918
|
0.00001
|
NM_004370.6(COL12A1):c.3566G>A (p.Gly1189Glu)
|
rs990441297
|
0.00001
|
NM_004370.6(COL12A1):c.3592G>A (p.Ala1198Thr)
|
rs752018748
|
0.00001
|
NM_004370.6(COL12A1):c.3676G>A (p.Val1226Met)
|
rs1305647848
|
0.00001
|
NM_004370.6(COL12A1):c.383C>T (p.Thr128Ile)
|
rs751811370
|
0.00001
|
NM_004370.6(COL12A1):c.3905A>G (p.Lys1302Arg)
|
rs1179021269
|
0.00001
|
NM_004370.6(COL12A1):c.3967C>G (p.Leu1323Val)
|
rs759722280
|
0.00001
|
NM_004370.6(COL12A1):c.3974A>T (p.Asp1325Val)
|
rs371419803
|
0.00001
|
NM_004370.6(COL12A1):c.401C>T (p.Ser134Phe)
|
rs1346687171
|
0.00001
|
NM_004370.6(COL12A1):c.403G>T (p.Val135Phe)
|
rs377551270
|
0.00001
|
NM_004370.6(COL12A1):c.4148G>A (p.Gly1383Asp)
|
rs1183950908
|
0.00001
|
NM_004370.6(COL12A1):c.4286A>T (p.Glu1429Val)
|
rs1056626609
|
0.00001
|
NM_004370.6(COL12A1):c.4420C>T (p.Pro1474Ser)
|
rs750010185
|
0.00001
|
NM_004370.6(COL12A1):c.4457G>T (p.Gly1486Val)
|
rs1353013260
|
0.00001
|
NM_004370.6(COL12A1):c.4459C>T (p.Pro1487Ser)
|
rs1220345277
|
0.00001
|
NM_004370.6(COL12A1):c.44C>T (p.Ala15Val)
|
rs1267769116
|
0.00001
|
NM_004370.6(COL12A1):c.4531A>G (p.Lys1511Glu)
|
rs763614780
|
0.00001
|
NM_004370.6(COL12A1):c.4556A>T (p.Lys1519Ile)
|
rs767232468
|
0.00001
|
NM_004370.6(COL12A1):c.4627G>A (p.Val1543Ile)
|
rs771220392
|
0.00001
|
NM_004370.6(COL12A1):c.4653C>A (p.Asp1551Glu)
|
rs74383804
|
0.00001
|
NM_004370.6(COL12A1):c.4657A>T (p.Thr1553Ser)
|
rs1044813586
|
0.00001
|
NM_004370.6(COL12A1):c.4661G>A (p.Ser1554Asn)
|
rs780006734
|
0.00001
|
NM_004370.6(COL12A1):c.4713T>A (p.Asp1571Glu)
|
rs1246397590
|
0.00001
|
NM_004370.6(COL12A1):c.4759G>C (p.Glu1587Gln)
|
rs775117257
|
0.00001
|
NM_004370.6(COL12A1):c.4789A>G (p.Ile1597Val)
|
rs1172593477
|
0.00001
|
NM_004370.6(COL12A1):c.4801A>G (p.Lys1601Glu)
|
rs751657895
|
0.00001
|
NM_004370.6(COL12A1):c.511G>C (p.Asp171His)
|
rs748076280
|
0.00001
|
NM_004370.6(COL12A1):c.5174C>T (p.Thr1725Ile)
|
rs370108747
|
0.00001
|
NM_004370.6(COL12A1):c.5185C>T (p.Pro1729Ser)
|
rs1329724602
|
0.00001
|
NM_004370.6(COL12A1):c.5187T>A (p.Pro1729=)
|
rs763294691
|
0.00001
|
NM_004370.6(COL12A1):c.5202T>A (p.Ser1734Arg)
|
rs377226722
|
0.00001
|
NM_004370.6(COL12A1):c.5251+4A>G
|
rs781348212
|
0.00001
|
NM_004370.6(COL12A1):c.5274C>A (p.Asn1758Lys)
|
rs374747725
|
0.00001
|
NM_004370.6(COL12A1):c.5309C>T (p.Thr1770Ile)
|
rs201205563
|
0.00001
|
NM_004370.6(COL12A1):c.5335C>T (p.Arg1779Cys)
|
rs760210784
|
0.00001
|
NM_004370.6(COL12A1):c.5348A>G (p.Tyr1783Cys)
|
rs368526865
|
0.00001
|
NM_004370.6(COL12A1):c.5432A>G (p.Gln1811Arg)
|
rs558214604
|
0.00001
|
NM_004370.6(COL12A1):c.5458A>G (p.Thr1820Ala)
|
rs1461567926
|
0.00001
|
NM_004370.6(COL12A1):c.5515G>A (p.Gly1839Ser)
|
rs749681990
|
0.00001
|
NM_004370.6(COL12A1):c.5563C>A (p.Pro1855Thr)
|
rs1479368774
|
0.00001
|
NM_004370.6(COL12A1):c.5564C>G (p.Pro1855Arg)
|
rs371970739
|
0.00001
|
NM_004370.6(COL12A1):c.5569A>G (p.Thr1857Ala)
|
rs750426294
|
0.00001
|
NM_004370.6(COL12A1):c.5570C>T (p.Thr1857Ile)
|
rs1239883407
|
0.00001
|
NM_004370.6(COL12A1):c.5603A>G (p.Glu1868Gly)
|
rs1370422060
|
0.00001
|
NM_004370.6(COL12A1):c.5620T>C (p.Tyr1874His)
|
rs1766439644
|
0.00001
|
NM_004370.6(COL12A1):c.5629T>G (p.Phe1877Val)
|
rs1416074718
|
0.00001
|
NM_004370.6(COL12A1):c.562A>G (p.Thr188Ala)
|
rs767796362
|
0.00001
|
NM_004370.6(COL12A1):c.5816A>C (p.Asn1939Thr)
|
rs1162295476
|
0.00001
|
NM_004370.6(COL12A1):c.5873C>G (p.Pro1958Arg)
|
rs755452261
|
0.00001
|
NM_004370.6(COL12A1):c.5876G>A (p.Gly1959Glu)
|
rs1179773170
|
0.00001
|
NM_004370.6(COL12A1):c.589T>C (p.Tyr197His)
|
rs1769820873
|
0.00001
|
NM_004370.6(COL12A1):c.5940A>G (p.Ile1980Met)
|
rs376487916
|
0.00001
|
NM_004370.6(COL12A1):c.5978G>A (p.Arg1993Gln)
|
rs748657616
|
0.00001
|
NM_004370.6(COL12A1):c.6004G>A (p.Val2002Met)
|
rs181357263
|
0.00001
|
NM_004370.6(COL12A1):c.6011T>C (p.Leu2004Pro)
|
rs1023244422
|
0.00001
|
NM_004370.6(COL12A1):c.6026C>T (p.Ser2009Leu)
|
rs776981761
|
0.00001
|
NM_004370.6(COL12A1):c.6080G>A (p.Gly2027Glu)
|
rs780058273
|
0.00001
|
NM_004370.6(COL12A1):c.6100T>C (p.Phe2034Leu)
|
rs1488658209
|
0.00001
|
NM_004370.6(COL12A1):c.6148G>T (p.Gly2050Trp)
|
rs947116571
|
0.00001
|
NM_004370.6(COL12A1):c.6152C>T (p.Pro2051Leu)
|
rs373325814
|
0.00001
|
NM_004370.6(COL12A1):c.6187G>A (p.Val2063Ile)
|
rs1385786827
|
0.00001
|
NM_004370.6(COL12A1):c.6211A>G (p.Thr2071Ala)
|
rs1390899930
|
0.00001
|
NM_004370.6(COL12A1):c.622A>C (p.Lys208Gln)
|
rs1769819268
|
0.00001
|
NM_004370.6(COL12A1):c.6295T>G (p.Tyr2099Asp)
|
rs1366474005
|
0.00001
|
NM_004370.6(COL12A1):c.6358C>G (p.Gln2120Glu)
|
rs1366573056
|
0.00001
|
NM_004370.6(COL12A1):c.6370A>G (p.Ile2124Val)
|
rs1339963289
|
0.00001
|
NM_004370.6(COL12A1):c.6473C>T (p.Pro2158Leu)
|
rs1467078008
|
0.00001
|
NM_004370.6(COL12A1):c.6652G>C (p.Asp2218His)
|
rs374545461
|
0.00001
|
NM_004370.6(COL12A1):c.6710T>C (p.Leu2237Pro)
|
rs1298620930
|
0.00001
|
NM_004370.6(COL12A1):c.6814G>A (p.Val2272Ile)
|
rs1158867383
|
0.00001
|
NM_004370.6(COL12A1):c.6859A>G (p.Lys2287Glu)
|
rs775646975
|
0.00001
|
NM_004370.6(COL12A1):c.6874G>A (p.Val2292Met)
|
rs1434449708
|
0.00001
|
NM_004370.6(COL12A1):c.6917C>T (p.Pro2306Leu)
|
rs1302398240
|
0.00001
|
NM_004370.6(COL12A1):c.7019A>G (p.Asn2340Ser)
|
rs1474542485
|
0.00001
|
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile)
|
rs745852751
|
0.00001
|
NM_004370.6(COL12A1):c.70G>A (p.Glu24Lys)
|
rs1233096096
|
0.00001
|
NM_004370.6(COL12A1):c.7154C>T (p.Ala2385Val)
|
rs372896052
|
0.00001
|
NM_004370.6(COL12A1):c.7210+4T>G
|
rs201950823
|
0.00001
|
NM_004370.6(COL12A1):c.7211-3T>C
|
rs766034760
|
0.00001
|
NM_004370.6(COL12A1):c.7250G>T (p.Trp2417Leu)
|
rs755614789
|
0.00001
|
NM_004370.6(COL12A1):c.7318G>A (p.Glu2440Lys)
|
rs781647177
|
0.00001
|
NM_004370.6(COL12A1):c.747G>A (p.Thr249=)
|
rs553802363
|
0.00001
|
NM_004370.6(COL12A1):c.74T>C (p.Val25Ala)
|
rs770874037
|
0.00001
|
NM_004370.6(COL12A1):c.7676C>T (p.Ala2559Val)
|
rs761234963
|
0.00001
|
NM_004370.6(COL12A1):c.7697C>T (p.Ala2566Val)
|
rs780133855
|
0.00001
|
NM_004370.6(COL12A1):c.769G>C (p.Val257Leu)
|
rs775522044
|
0.00001
|
NM_004370.6(COL12A1):c.7721C>G (p.Pro2574Arg)
|
rs770613686
|
0.00001
|
NM_004370.6(COL12A1):c.7738A>G (p.Ile2580Val)
|
rs781269301
|
0.00001
|
NM_004370.6(COL12A1):c.7804A>G (p.Arg2602Gly)
|
rs1263587165
|
0.00001
|
NM_004370.6(COL12A1):c.7816C>T (p.Pro2606Ser)
|
rs994920789
|
0.00001
|
NM_004370.6(COL12A1):c.7832T>C (p.Ile2611Thr)
|
rs767580803
|
0.00001
|
NM_004370.6(COL12A1):c.7915G>A (p.Glu2639Lys)
|
rs1384761865
|
0.00001
|
NM_004370.6(COL12A1):c.7918G>A (p.Val2640Ile)
|
rs775684324
|
0.00001
|
NM_004370.6(COL12A1):c.7950+9A>G
|
rs778327157
|
0.00001
|
NM_004370.6(COL12A1):c.8059A>T (p.Ile2687Phe)
|
rs1391973492
|
0.00001
|
NM_004370.6(COL12A1):c.8183A>T (p.Asp2728Val)
|
rs749287325
|
0.00001
|
NM_004370.6(COL12A1):c.8290A>G (p.Arg2764Gly)
|
rs1011310040
|
0.00001
|
NM_004370.6(COL12A1):c.8369C>T (p.Pro2790Leu)
|
rs755342579
|
0.00001
|
NM_004370.6(COL12A1):c.8441C>G (p.Ala2814Gly)
|
rs368105517
|
0.00001
|
NM_004370.6(COL12A1):c.8470-3C>A
|
rs1169467662
|
0.00001
|
NM_004370.6(COL12A1):c.8494C>T (p.Pro2832Ser)
|
rs376931672
|
0.00001
|
NM_004370.6(COL12A1):c.8524-3T>C
|
rs755782718
|
0.00001
|
NM_004370.6(COL12A1):c.8579G>C (p.Gly2860Ala)
|
rs758378155
|
0.00001
|
NM_004370.6(COL12A1):c.8711T>C (p.Met2904Thr)
|
rs1427337137
|
0.00001
|
NM_004370.6(COL12A1):c.8753G>T (p.Gly2918Val)
|
rs769818518
|
0.00001
|
NM_004370.6(COL12A1):c.886G>A (p.Val296Ile)
|
rs1273649550
|
0.00001
|
NM_004370.6(COL12A1):c.8885G>C (p.Gly2962Ala)
|
rs761885492
|
0.00001
|
NM_004370.6(COL12A1):c.8902C>T (p.Pro2968Ser)
|
rs1216270127
|
0.00001
|
NM_004370.6(COL12A1):c.8903C>T (p.Pro2968Leu)
|
rs771010070
|
0.00001
|
NM_004370.6(COL12A1):c.8927C>A (p.Pro2976His)
|
rs748714098
|
0.00001
|
NM_004370.6(COL12A1):c.8990G>A (p.Arg2997Gln)
|
rs778638053
|
0.00001
|
NM_004370.6(COL12A1):c.997+6T>C
|
rs377225744
|
0.00001
|
NM_004370.6(COL12A1):c.997G>A (p.Val333Ile)
|
rs1426761655
|
0.00001
|
NC_000002.11:g.(?_237481970)_(238305480_?)dup
|
|
|
NC_000002.11:g.(?_238233407)_(238305470_?)dup
|
|
|
NC_000002.11:g.(?_238233417)_(238428692_?)dup
|
|
|
NC_000002.11:g.(?_238242073)_(238243552_?)del
|
|
|
NC_000002.11:g.(?_238272973)_(238281000_?)del
|
|
|
NC_000002.11:g.(?_238289548)_(238296837_?)del
|
|
|
NC_000002.12:g.(?_236573327)_(237388194_?)dup
|
|
|
NC_000002.12:g.(?_237333450)_(237334889_?)del
|
|
|
NC_000006.11:g.(?_75796253)_(75855181_?)del
|
|
|
NC_000006.11:g.(?_75796263)_(75813546_?)dup
|
|
|
NC_000006.11:g.(?_75806949)_(75807042_?)del
|
|
|
NC_000006.11:g.(?_75833644)_(75847315_?)del
|
|
|
NC_000006.11:g.(?_75858054)_(75912508_?)dup
|
|
|
NC_000006.12:g.(?_75086537)_(75202802_?)dup
|
|
|
NC_000021.8:g.(?_47400663)_(47425963_?)dup
|
|
|
NC_000021.8:g.(?_47401745)_(47532511_?)dup
|
|
|
NC_000021.8:g.(?_47401755)_(47546465_?)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_000021.8: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.(?_45981831)_(46004033_?)dup
|
|
|
NC_000021.9:g.(?_46111467)_(46112834_?)dup
|
|
|
NC_000021.9:g.(?_46113998)_(46116063_?)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.1123G>A (p.Glu375Lys)
|
|
|
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.1226C>A (p.Ala409Glu)
|
rs765826390
|
|
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.1659_1667dup (p.Pro555_Asp557dup)
|
rs2123484082
|
|
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.178G>T (p.Asp60Tyr)
|
rs2123460260
|
|
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.211G>A (p.Asp71Asn)
|
|
|
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.340A>C (p.Lys114Gln)
|
|
|
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.631C>T (p.Arg211Cys)
|
rs375217284
|
|
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)
|
|
|
NM_001849.3(COL6A2):c.-91_3071dup
|
|
|
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_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
|
|
|
NM_004369.4(COL6A3):c.1004C>G (p.Thr335Ser)
|
|
|
NM_004369.4(COL6A3):c.1019G>A (p.Ser340Asn)
|
rs2106378691
|
|
NM_004369.4(COL6A3):c.1029G>C (p.Glu343Asp)
|
|
|
NM_004369.4(COL6A3):c.1035G>T (p.Gly345=)
|
rs886044426
|
|
NM_004369.4(COL6A3):c.1039C>G (p.Pro347Ala)
|
|
|
NM_004369.4(COL6A3):c.1067G>A (p.Gly356Glu)
|
rs2106378611
|
|
NM_004369.4(COL6A3):c.1080C>A (p.Asp360Glu)
|
|
|
NM_004369.4(COL6A3):c.1081G>A (p.Glu361Lys)
|
|
|
NM_004369.4(COL6A3):c.1102_1103delinsAT (p.Ala368Ile)
|
rs2106378544
|
|
NM_004369.4(COL6A3):c.1131C>G (p.Phe377Leu)
|
rs189772397
|
|
NM_004369.4(COL6A3):c.1139G>C (p.Gly380Ala)
|
|
|
NM_004369.4(COL6A3):c.116A>G (p.Asp39Gly)
|
rs2106388893
|
|
NM_004369.4(COL6A3):c.1171C>T (p.His391Tyr)
|
|
|
NM_004369.4(COL6A3):c.1174A>G (p.Ile392Val)
|
|
|
NM_004369.4(COL6A3):c.1186G>A (p.Asp396Asn)
|
rs372071064
|
|
NM_004369.4(COL6A3):c.1187A>G (p.Asp396Gly)
|
rs1051157564
|
|
NM_004369.4(COL6A3):c.118ATA[1] (p.Ile41del)
|
rs886042334
|
|
NM_004369.4(COL6A3):c.1194G>C (p.Leu398Phe)
|
rs2078180823
|
|
NM_004369.4(COL6A3):c.1204G>C (p.Val402Leu)
|
rs746277006
|
|
NM_004369.4(COL6A3):c.120A>G (p.Ile40Met)
|
|
|
NM_004369.4(COL6A3):c.1225G>A (p.Gly409Arg)
|
|
|
NM_004369.4(COL6A3):c.1228G>T (p.Asp410Tyr)
|
|
|
NM_004369.4(COL6A3):c.124T>G (p.Phe42Val)
|
rs1559280207
|
|
NM_004369.4(COL6A3):c.1286T>C (p.Leu429Ser)
|
rs2078177097
|
|
NM_004369.4(COL6A3):c.1287G>T (p.Leu429Phe)
|
rs2078177026
|
|
NM_004369.4(COL6A3):c.1288A>G (p.Lys430Glu)
|
|
|
NM_004369.4(COL6A3):c.1298C>T (p.Thr433Ile)
|
rs2106378142
|
|
NM_004369.4(COL6A3):c.1303G>T (p.Val435Phe)
|
rs2078176426
|
|
NM_004369.4(COL6A3):c.1316T>C (p.Ile439Thr)
|
rs2106370456
|
|
NM_004369.4(COL6A3):c.1355G>A (p.Gly452Asp)
|
rs777078456
|
|
NM_004369.4(COL6A3):c.136T>G (p.Ser46Ala)
|
|
|
NM_004369.4(COL6A3):c.1388C>T (p.Ala463Val)
|
rs2106370357
|
|
NM_004369.4(COL6A3):c.1390A>G (p.Ile464Val)
|
|
|
NM_004369.4(COL6A3):c.1435C>A (p.Gln479Lys)
|
|
|
NM_004369.4(COL6A3):c.1439A>G (p.Asp480Gly)
|
rs2078001580
|
|
NM_004369.4(COL6A3):c.144G>C (p.Trp48Cys)
|
|
|
NM_004369.4(COL6A3):c.1472A>T (p.Asp491Val)
|
rs2106370266
|
|
NM_004369.4(COL6A3):c.1476_1477inv (p.Val493Met)
|
|
|
NM_004369.4(COL6A3):c.1483C>A (p.Pro495Thr)
|
|
|
NM_004369.4(COL6A3):c.1492T>C (p.Tyr498His)
|
rs2077999753
|
|
NM_004369.4(COL6A3):c.1507C>A (p.Pro503Thr)
|
|
|
NM_004369.4(COL6A3):c.1526T>C (p.Ile509Thr)
|
rs2077998366
|
|
NM_004369.4(COL6A3):c.1531G>T (p.Ala511Ser)
|
rs775165275
|
|
NM_004369.4(COL6A3):c.1540A>G (p.Lys514Glu)
|
|
|
NM_004369.4(COL6A3):c.1568T>C (p.Leu523Pro)
|
|
|
NM_004369.4(COL6A3):c.1580C>G (p.Ser527Cys)
|
|
|
NM_004369.4(COL6A3):c.1582G>A (p.Ala528Thr)
|
|
|
NM_004369.4(COL6A3):c.1583C>G (p.Ala528Gly)
|
|
|
NM_004369.4(COL6A3):c.1604A>T (p.Asn535Ile)
|
|
|
NM_004369.4(COL6A3):c.161A>G (p.His54Arg)
|
|
|
NM_004369.4(COL6A3):c.1630C>T (p.Arg544Trp)
|
|
|
NM_004369.4(COL6A3):c.1688A>T (p.Asp563Val)
|
|
|
NM_004369.4(COL6A3):c.169C>G (p.Leu57Val)
|
rs765665120
|
|
NM_004369.4(COL6A3):c.1705G>T (p.Ala569Ser)
|
|
|
NM_004369.4(COL6A3):c.1735G>A (p.Ala579Thr)
|
rs1574725167
|
|
NM_004369.4(COL6A3):c.1740T>G (p.Phe580Leu)
|
rs1553562483
|
|
NM_004369.4(COL6A3):c.1755G>T (p.Lys585Asn)
|
|
|
NM_004369.4(COL6A3):c.176G>A (p.Arg59Gln)
|
|
|
NM_004369.4(COL6A3):c.1777G>A (p.Glu593Lys)
|
|
|
NM_004369.4(COL6A3):c.1780G>A (p.Glu594Lys)
|
|
|
NM_004369.4(COL6A3):c.1795_1796delinsAT (p.Ser599Ile)
|
rs886043319
|
|
NM_004369.4(COL6A3):c.1804G>T (p.Val602Leu)
|
rs2106369723
|
|
NM_004369.4(COL6A3):c.1816G>C (p.Ala606Pro)
|
|
|
NM_004369.4(COL6A3):c.188A>G (p.Tyr63Cys)
|
rs886043105
|
|
NM_004369.4(COL6A3):c.1900C>T (p.His634Tyr)
|
rs769257731
|
|
NM_004369.4(COL6A3):c.1901A>G (p.His634Arg)
|
|
|
NM_004369.4(COL6A3):c.1908C>G (p.Asn636Lys)
|
|
|
NM_004369.4(COL6A3):c.1915G>A (p.Asp639Asn)
|
rs1181696188
|
|
NM_004369.4(COL6A3):c.191A>C (p.Asp64Ala)
|
rs768274647
|
|
NM_004369.4(COL6A3):c.1922T>C (p.Ile641Thr)
|
|
|
NM_004369.4(COL6A3):c.1947C>A (p.Asn649Lys)
|
|
|
NM_004369.4(COL6A3):c.1948G>T (p.Val650Phe)
|
|
|
NM_004369.4(COL6A3):c.1984G>A (p.Val662Ile)
|
|
|
NM_004369.4(COL6A3):c.1989G>C (p.Met663Ile)
|
|
|
NM_004369.4(COL6A3):c.2000A>G (p.Asn667Ser)
|
rs746265516
|
|
NM_004369.4(COL6A3):c.2002A>G (p.Ser668Gly)
|
|
|
NM_004369.4(COL6A3):c.2018A>G (p.Asn673Ser)
|
|
|
NM_004369.4(COL6A3):c.2029C>A (p.Arg677Ser)
|
|
|
NM_004369.4(COL6A3):c.202T>G (p.Ser68Ala)
|
|
|
NM_004369.4(COL6A3):c.2030G>T (p.Arg677Leu)
|
rs35227432
|
|
NM_004369.4(COL6A3):c.2036G>A (p.Gly679Asp)
|
rs1325552568
|
|
NM_004369.4(COL6A3):c.2042T>G (p.Val681Gly)
|
rs753741086
|
|
NM_004369.4(COL6A3):c.2060C>T (p.Pro687Leu)
|
rs2106367262
|
|
NM_004369.4(COL6A3):c.2066C>A (p.Thr689Lys)
|
|
|
NM_004369.4(COL6A3):c.2069A>G (p.Glu690Gly)
|
rs2106367237
|
|
NM_004369.4(COL6A3):c.2084C>T (p.Thr695Ile)
|
|
|
NM_004369.4(COL6A3):c.2099C>T (p.Ser700Leu)
|
|
|
NM_004369.4(COL6A3):c.2108T>G (p.Leu703Arg)
|
|
|
NM_004369.4(COL6A3):c.2128C>A (p.Gln710Lys)
|
rs2106367135
|
|
NM_004369.4(COL6A3):c.2131C>G (p.Leu711Val)
|
rs2106367128
|
|
NM_004369.4(COL6A3):c.2183C>T (p.Ala728Val)
|
|
|
NM_004369.4(COL6A3):c.2185A>G (p.Asn729Asp)
|
|
|
NM_004369.4(COL6A3):c.218A>G (p.Glu73Gly)
|
rs138570455
|
|
NM_004369.4(COL6A3):c.2195C>A (p.Thr732Lys)
|
rs370719148
|
|
NM_004369.4(COL6A3):c.2214G>T (p.Arg738Ser)
|
rs1410013839
|
|
NM_004369.4(COL6A3):c.2287G>A (p.Ala763Thr)
|
|
|
NM_004369.4(COL6A3):c.2292C>A (p.Asn764Lys)
|
|
|
NM_004369.4(COL6A3):c.2302C>G (p.Arg768Gly)
|
rs200722892
|
|
NM_004369.4(COL6A3):c.2303G>C (p.Arg768Pro)
|
|
|
NM_004369.4(COL6A3):c.2353G>C (p.Glu785Gln)
|
rs776048975
|
|
NM_004369.4(COL6A3):c.2356C>T (p.Leu786Phe)
|
|
|
NM_004369.4(COL6A3):c.2365A>T (p.Ile789Phe)
|
|
|
NM_004369.4(COL6A3):c.2374A>G (p.Asn792Asp)
|
rs1574719707
|
|
NM_004369.4(COL6A3):c.238C>G (p.Leu80Val)
|
rs777869450
|
|
NM_004369.4(COL6A3):c.2393T>C (p.Leu798Pro)
|
rs939675343
|
|
NM_004369.4(COL6A3):c.2407A>G (p.Ser803Gly)
|
|
|
NM_004369.4(COL6A3):c.2416C>T (p.Pro806Ser)
|
rs1574719546
|
|
NM_004369.4(COL6A3):c.2422T>G (p.Leu808Val)
|
|
|
NM_004369.4(COL6A3):c.2452A>G (p.Thr818Ala)
|
rs2106366553
|
|
NM_004369.4(COL6A3):c.245A>G (p.Gln82Arg)
|
|
|
NM_004369.4(COL6A3):c.2468G>T (p.Gly823Val)
|
|
|
NM_004369.4(COL6A3):c.2495C>T (p.Pro832Leu)
|
|
|
NM_004369.4(COL6A3):c.2497+20G>A
|
|
|
NM_004369.4(COL6A3):c.2497+3A>T
|
|
|
NM_004369.4(COL6A3):c.2497+4_2497+9del
|
|
|
NM_004369.4(COL6A3):c.2501G>A (p.Ser834Asn)
|
|
|
NM_004369.4(COL6A3):c.2502C>G (p.Ser834Arg)
|
rs767437328
|
|
NM_004369.4(COL6A3):c.2533T>A (p.Ser845Thr)
|
|
|
NM_004369.4(COL6A3):c.2546T>A (p.Val849Glu)
|
rs1574716769
|
|
NM_004369.4(COL6A3):c.2570A>G (p.Asp857Gly)
|
rs2077873907
|
|
NM_004369.4(COL6A3):c.2575C>G (p.Leu859Val)
|
rs570233756
|
|
NM_004369.4(COL6A3):c.2575C>T (p.Leu859Phe)
|
|
|
NM_004369.4(COL6A3):c.2579A>G (p.Tyr860Cys)
|
rs2106364778
|
|
NM_004369.4(COL6A3):c.2596C>T (p.Leu866Phe)
|
|
|
NM_004369.4(COL6A3):c.2605A>C (p.Lys869Gln)
|
|
|
NM_004369.4(COL6A3):c.2608C>T (p.Pro870Ser)
|
|
|
NM_004369.4(COL6A3):c.2621G>A (p.Arg874Gln)
|
|
|
NM_004369.4(COL6A3):c.2644G>A (p.Asp882Asn)
|
|
|
NM_004369.4(COL6A3):c.2644G>T (p.Asp882Tyr)
|
|
|
NM_004369.4(COL6A3):c.2663C>G (p.Ser888Cys)
|
rs780855121
|
|
NM_004369.4(COL6A3):c.2671G>C (p.Asp891His)
|
|
|
NM_004369.4(COL6A3):c.2685T>G (p.Ser895Arg)
|
|
|
NM_004369.4(COL6A3):c.2698C>G (p.Leu900Val)
|
rs2077868769
|
|
NM_004369.4(COL6A3):c.2707G>A (p.Val903Met)
|
rs890279367
|
|
NM_004369.4(COL6A3):c.2717T>A (p.Met906Lys)
|
rs2077868316
|
|
NM_004369.4(COL6A3):c.2729C>A (p.Thr910Lys)
|
rs189356869
|
|
NM_004369.4(COL6A3):c.2750G>A (p.Gly917Asp)
|
rs2106364518
|
|
NM_004369.4(COL6A3):c.275T>C (p.Leu92Pro)
|
|
|
NM_004369.4(COL6A3):c.2774G>T (p.Arg925Met)
|
|
|
NM_004369.4(COL6A3):c.2777A>G (p.Tyr926Cys)
|
|
|
NM_004369.4(COL6A3):c.2863C>T (p.Arg955Cys)
|
rs886043736
|
|
NM_004369.4(COL6A3):c.2897G>T (p.Ser966Ile)
|
|
|
NM_004369.4(COL6A3):c.2899G>A (p.Gly967Arg)
|
|
|
NM_004369.4(COL6A3):c.2908C>G (p.Pro970Ala)
|
rs1226873582
|
|
NM_004369.4(COL6A3):c.2926A>C (p.Lys976Gln)
|
|
|
NM_004369.4(COL6A3):c.292A>G (p.Thr98Ala)
|
|
|
NM_004369.4(COL6A3):c.2932G>T (p.Ala978Ser)
|
rs768292803
|
|
NM_004369.4(COL6A3):c.2945A>C (p.Glu982Ala)
|
rs2077857997
|
|
NM_004369.4(COL6A3):c.2951A>G (p.Glu984Gly)
|
|
|
NM_004369.4(COL6A3):c.2958C>G (p.Ile986Met)
|
rs145203676
|
|
NM_004369.4(COL6A3):c.2978T>C (p.Ile993Thr)
|
rs2077856364
|
|
NM_004369.4(COL6A3):c.3002A>G (p.Lys1001Arg)
|
|
|
NM_004369.4(COL6A3):c.3010G>A (p.Asp1004Asn)
|
rs2106364042
|
|
NM_004369.4(COL6A3):c.3011A>T (p.Asp1004Val)
|
rs1194314017
|
|
NM_004369.4(COL6A3):c.3026T>G (p.Ile1009Arg)
|
|
|
NM_004369.4(COL6A3):c.3040A>C (p.Lys1014Gln)
|
rs114284669
|
|
NM_004369.4(COL6A3):c.3044C>T (p.Ser1015Leu)
|
rs2077853056
|
|
NM_004369.4(COL6A3):c.3051C>G (p.His1017Gln)
|
|
|
NM_004369.4(COL6A3):c.3061C>T (p.Pro1021Ser)
|
rs2077852366
|
|
NM_004369.4(COL6A3):c.3074C>T (p.Ser1025Leu)
|
|
|
NM_004369.4(COL6A3):c.3091G>C (p.Val1031Leu)
|
|
|
NM_004369.4(COL6A3):c.3106G>A (p.Gly1036Ser)
|
|
|
NM_004369.4(COL6A3):c.3109T>C (p.Ser1037Pro)
|
|
|
NM_004369.4(COL6A3):c.3110C>G (p.Ser1037Cys)
|
rs2106361725
|
|
NM_004369.4(COL6A3):c.3112G>A (p.Glu1038Lys)
|
|
|
NM_004369.4(COL6A3):c.3147G>T (p.Glu1049Asp)
|
|
|
NM_004369.4(COL6A3):c.3164T>A (p.Val1055Glu)
|
rs532449385
|
|
NM_004369.4(COL6A3):c.3169A>T (p.Ser1057Cys)
|
rs1553560705
|
|
NM_004369.4(COL6A3):c.3188A>C (p.Asp1063Ala)
|
rs1238550268
|
|
NM_004369.4(COL6A3):c.3274G>C (p.Val1092Leu)
|
|
|
NM_004369.4(COL6A3):c.3275T>C (p.Val1092Ala)
|
|
|
NM_004369.4(COL6A3):c.3280G>T (p.Ala1094Ser)
|
rs369460632
|
|
NM_004369.4(COL6A3):c.3286C>G (p.Arg1096Gly)
|
|
|
NM_004369.4(COL6A3):c.3298C>G (p.Leu1100Val)
|
|
|
NM_004369.4(COL6A3):c.32C>T (p.Ala11Val)
|
|
|
NM_004369.4(COL6A3):c.3304G>A (p.Gly1102Arg)
|
rs2106361380
|
|
NM_004369.4(COL6A3):c.3314C>T (p.Thr1105Ile)
|
|
|
NM_004369.4(COL6A3):c.3325G>A (p.Gly1109Arg)
|
rs752924311
|
|
NM_004369.4(COL6A3):c.3328G>A (p.Ala1110Thr)
|
|
|
NM_004369.4(COL6A3):c.3336G>A (p.Leu1112=)
|
rs1553560545
|
|
NM_004369.4(COL6A3):c.3347T>C (p.Leu1116Pro)
|
|
|
NM_004369.4(COL6A3):c.3357C>G (p.Ile1119Met)
|
rs1574709919
|
|
NM_004369.4(COL6A3):c.3365G>A (p.Ser1122Asn)
|
|
|
NM_004369.4(COL6A3):c.3373G>A (p.Gly1125Arg)
|
rs2106361269
|
|
NM_004369.4(COL6A3):c.3391G>A (p.Gly1131Ser)
|
rs2077786156
|
|
NM_004369.4(COL6A3):c.3403C>G (p.Leu1135Val)
|
rs2077785980
|
|
NM_004369.4(COL6A3):c.3411C>G (p.Ile1137Met)
|
|
|
NM_004369.4(COL6A3):c.3412G>A (p.Val1138Ile)
|
rs199964760
|
|
NM_004369.4(COL6A3):c.3429G>C (p.Arg1143Ser)
|
|
|
NM_004369.4(COL6A3):c.343A>G (p.Thr115Ala)
|
rs2106388440
|
|
NM_004369.4(COL6A3):c.3454T>A (p.Ser1152Thr)
|
rs2106361118
|
|
NM_004369.4(COL6A3):c.3475G>A (p.Gly1159Arg)
|
|
|
NM_004369.4(COL6A3):c.3475G>C (p.Gly1159Arg)
|
rs146313030
|
|
NM_004369.4(COL6A3):c.3479C>T (p.Ala1160Val)
|
|
|
NM_004369.4(COL6A3):c.347A>G (p.Asn116Ser)
|
|
|
NM_004369.4(COL6A3):c.348T>A (p.Asn116Lys)
|
rs2106388428
|
|
NM_004369.4(COL6A3):c.3499A>T (p.Ile1167Phe)
|
rs886042996
|
|
NM_004369.4(COL6A3):c.3501C>G (p.Ile1167Met)
|
|
|
NM_004369.4(COL6A3):c.3525G>A (p.Met1175Ile)
|
|
|
NM_004369.4(COL6A3):c.3530C>T (p.Thr1177Ile)
|
rs2077780771
|
|
NM_004369.4(COL6A3):c.3565C>T (p.Pro1189Ser)
|
|
|
NM_004369.4(COL6A3):c.3566C>A (p.Pro1189His)
|
|
|
NM_004369.4(COL6A3):c.3584G>A (p.Gly1195Glu)
|
|
|
NM_004369.4(COL6A3):c.3611G>C (p.Arg1204Thr)
|
|
|
NM_004369.4(COL6A3):c.362G>T (p.Gly121Val)
|
|
|
NM_004369.4(COL6A3):c.3631G>A (p.Glu1211Lys)
|
rs2077777129
|
|
NM_004369.4(COL6A3):c.3664C>T (p.Pro1222Ser)
|
rs1553560314
|
|
NM_004369.4(COL6A3):c.3679+5G>A
|
|
|
NM_004369.4(COL6A3):c.3680-14C>G
|
|
|
NM_004369.4(COL6A3):c.3696G>T (p.Arg1232Ser)
|
|
|
NM_004369.4(COL6A3):c.3709C>G (p.Leu1237Val)
|
|
|
NM_004369.4(COL6A3):c.3710T>G (p.Leu1237Arg)
|
|
|
NM_004369.4(COL6A3):c.3716A>G (p.Asp1239Gly)
|
rs1190794379
|
|
NM_004369.4(COL6A3):c.3725A>C (p.Gln1242Pro)
|
rs1553559646
|
|
NM_004369.4(COL6A3):c.373A>T (p.Ile125Leu)
|
rs368077444
|
|
NM_004369.4(COL6A3):c.3741G>T (p.Glu1247Asp)
|
|
|
NM_004369.4(COL6A3):c.3758C>A (p.Thr1253Asn)
|
|
|
NM_004369.4(COL6A3):c.3760C>T (p.Leu1254Phe)
|
rs886044373
|
|
NM_004369.4(COL6A3):c.3764T>C (p.Ile1255Thr)
|
|
|
NM_004369.4(COL6A3):c.3768G>C (p.Glu1256Asp)
|
|
|
NM_004369.4(COL6A3):c.3778G>T (p.Asp1260Tyr)
|
|
|
NM_004369.4(COL6A3):c.3779A>G (p.Asp1260Gly)
|
rs773456951
|
|
NM_004369.4(COL6A3):c.3787G>A (p.Asp1263Asn)
|
|
|
NM_004369.4(COL6A3):c.3823C>G (p.Gln1275Glu)
|
rs2077710026
|
|
NM_004369.4(COL6A3):c.3832G>A (p.Asp1278Asn)
|
rs752309834
|
|
NM_004369.4(COL6A3):c.3850T>A (p.Phe1284Ile)
|
rs2077709263
|
|
NM_004369.4(COL6A3):c.386A>G (p.His129Arg)
|
|
|
NM_004369.4(COL6A3):c.3872G>A (p.Ser1291Asn)
|
|
|
NM_004369.4(COL6A3):c.3873C>G (p.Ser1291Arg)
|
|
|
NM_004369.4(COL6A3):c.3873C>T (p.Ser1291=)
|
|
|
NM_004369.4(COL6A3):c.3892G>A (p.Ala1298Thr)
|
|
|
NM_004369.4(COL6A3):c.3895G>A (p.Val1299Met)
|
rs899539198
|
|
NM_004369.4(COL6A3):c.3911C>T (p.Pro1304Leu)
|
|
|
NM_004369.4(COL6A3):c.3913A>G (p.Lys1305Glu)
|
|
|
NM_004369.4(COL6A3):c.3955G>A (p.Val1319Met)
|
|
|
NM_004369.4(COL6A3):c.3989G>T (p.Ser1330Ile)
|
rs779967310
|
|
NM_004369.4(COL6A3):c.3991C>A (p.Arg1331Ser)
|
rs750341446
|
|
NM_004369.4(COL6A3):c.3991C>T (p.Arg1331Cys)
|
rs750341446
|
|
NM_004369.4(COL6A3):c.4004G>C (p.Gly1335Ala)
|
|
|
NM_004369.4(COL6A3):c.400G>A (p.Ala134Thr)
|
|
|
NM_004369.4(COL6A3):c.4010C>T (p.Pro1337Leu)
|
|
|
NM_004369.4(COL6A3):c.403G>A (p.Gly135Arg)
|
|
|
NM_004369.4(COL6A3):c.4041G>T (p.Lys1347Asn)
|
rs781033908
|
|
NM_004369.4(COL6A3):c.4042T>C (p.Ser1348Pro)
|
|
|
NM_004369.4(COL6A3):c.4049A>G (p.Asp1350Gly)
|
|
|
NM_004369.4(COL6A3):c.4060G>C (p.Asp1354His)
|
|
|
NM_004369.4(COL6A3):c.4067C>T (p.Ala1356Val)
|
|
|
NM_004369.4(COL6A3):c.4075C>A (p.Leu1359Ile)
|
rs2077700902
|
|
NM_004369.4(COL6A3):c.4083G>T (p.Gln1361His)
|
rs2106357056
|
|
NM_004369.4(COL6A3):c.4093G>A (p.Ala1365Thr)
|
rs1460462771
|
|
NM_004369.4(COL6A3):c.4094C>T (p.Ala1365Val)
|
|
|
NM_004369.4(COL6A3):c.4108G>A (p.Ala1370Thr)
|
rs372234605
|
|
NM_004369.4(COL6A3):c.4108G>T (p.Ala1370Ser)
|
rs372234605
|
|
NM_004369.4(COL6A3):c.4113G>C (p.Arg1371Ser)
|
|
|
NM_004369.4(COL6A3):c.4150A>G (p.Ser1384Gly)
|
|
|
NM_004369.4(COL6A3):c.4163T>C (p.Val1388Ala)
|
|
|
NM_004369.4(COL6A3):c.416G>A (p.Gly139Asp)
|
rs780669785
|
|
NM_004369.4(COL6A3):c.4234A>T (p.Thr1412Ser)
|
rs764522621
|
|
NM_004369.4(COL6A3):c.4252A>G (p.Lys1418Glu)
|
rs1367588379
|
|
NM_004369.4(COL6A3):c.4252_4254del (p.Lys1418del)
|
rs886043395
|
|
NM_004369.4(COL6A3):c.4253A>G (p.Lys1418Arg)
|
|
|
NM_004369.4(COL6A3):c.4259T>C (p.Leu1420Ser)
|
|
|
NM_004369.4(COL6A3):c.4265G>A (p.Ser1422Asn)
|
|
|
NM_004369.4(COL6A3):c.4285+3G>A
|
|
|
NM_004369.4(COL6A3):c.4286-7T>G
|
|
|
NM_004369.4(COL6A3):c.4296T>A (p.Ser1432Arg)
|
rs2077626425
|
|
NM_004369.4(COL6A3):c.4308C>G (p.Asp1436Glu)
|
rs775286217
|
|
NM_004369.4(COL6A3):c.4309A>C (p.Ile1437Leu)
|
rs144314743
|
|
NM_004369.4(COL6A3):c.4310T>C (p.Ile1437Thr)
|
rs2106353352
|
|
NM_004369.4(COL6A3):c.4311_4312inv (p.Val1438Ile)
|
|
|
NM_004369.4(COL6A3):c.4312G>T (p.Val1438Phe)
|
|
|
NM_004369.4(COL6A3):c.4313T>C (p.Val1438Ala)
|
|
|
NM_004369.4(COL6A3):c.4324G>A (p.Asp1442Asn)
|
rs772700553
|
|
NM_004369.4(COL6A3):c.4363A>G (p.Ile1455Val)
|
rs2077624929
|
|
NM_004369.4(COL6A3):c.4367G>A (p.Arg1456Gln)
|
rs2077624807
|
|
NM_004369.4(COL6A3):c.4382G>A (p.Arg1461Lys)
|
rs2077624444
|
|
NM_004369.4(COL6A3):c.4390C>G (p.Arg1464Gly)
|
|
|
NM_004369.4(COL6A3):c.439G>C (p.Val147Leu)
|
|
|
NM_004369.4(COL6A3):c.4405G>A (p.Gly1469Ser)
|
rs771199614
|
|
NM_004369.4(COL6A3):c.4409C>A (p.Pro1470His)
|
rs2077623565
|
|
NM_004369.4(COL6A3):c.4415A>T (p.Lys1472Ile)
|
|
|
NM_004369.4(COL6A3):c.4417_4418delinsAA (p.Val1473Lys)
|
rs2106353213
|
|
NM_004369.4(COL6A3):c.443T>C (p.Val148Ala)
|
|
|
NM_004369.4(COL6A3):c.4443C>G (p.Ser1481Arg)
|
rs2106353172
|
|
NM_004369.4(COL6A3):c.4445A>G (p.Asn1482Ser)
|
rs2077622262
|
|
NM_004369.4(COL6A3):c.4445A>T (p.Asn1482Ile)
|
rs2077622262
|
|
NM_004369.4(COL6A3):c.4447G>A (p.Asp1483Asn)
|
|
|
NM_004369.4(COL6A3):c.4457C>A (p.Pro1486Gln)
|
|
|
NM_004369.4(COL6A3):c.4496T>G (p.Val1499Gly)
|
|
|
NM_004369.4(COL6A3):c.4503C>A (p.Asp1501Glu)
|
rs115551245
|
|
NM_004369.4(COL6A3):c.4505C>A (p.Ala1502Asp)
|
rs2106353091
|
|
NM_004369.4(COL6A3):c.4505C>T (p.Ala1502Val)
|
|
|
NM_004369.4(COL6A3):c.4514G>T (p.Arg1505Leu)
|
rs754840728
|
|
NM_004369.4(COL6A3):c.4520G>A (p.Arg1507Lys)
|
rs766158387
|
|
NM_004369.4(COL6A3):c.4520G>T (p.Arg1507Met)
|
rs766158387
|
|
NM_004369.4(COL6A3):c.4528G>A (p.Gly1510Arg)
|
rs1293450770
|
|
NM_004369.4(COL6A3):c.4529G>C (p.Gly1510Ala)
|
|
|
NM_004369.4(COL6A3):c.4535C>T (p.Ser1512Phe)
|
rs1370846981
|
|
NM_004369.4(COL6A3):c.4549G>A (p.Gly1517Ser)
|
|
|
NM_004369.4(COL6A3):c.4555G>A (p.Ala1519Thr)
|
rs2077618678
|
|
NM_004369.4(COL6A3):c.4556C>A (p.Ala1519Asp)
|
|
|
NM_004369.4(COL6A3):c.4565T>C (p.Phe1522Ser)
|
|
|
NM_004369.4(COL6A3):c.4568T>C (p.Val1523Ala)
|
|
|
NM_004369.4(COL6A3):c.4577A>G (p.Asn1526Ser)
|
|
|
NM_004369.4(COL6A3):c.4603C>A (p.Arg1535Ser)
|
|
|
NM_004369.4(COL6A3):c.460T>A (p.Ser154Thr)
|
rs1559279425
|
|
NM_004369.4(COL6A3):c.4613A>C (p.Asp1538Ala)
|
|
|
NM_004369.4(COL6A3):c.461C>G (p.Ser154Trp)
|
|
|
NM_004369.4(COL6A3):c.4667T>A (p.Val1556Glu)
|
rs375207869
|
|
NM_004369.4(COL6A3):c.4684G>T (p.Val1562Leu)
|
rs1553557605
|
|
NM_004369.4(COL6A3):c.4688T>C (p.Ile1563Thr)
|
|
|
NM_004369.4(COL6A3):c.4689C>G (p.Ile1563Met)
|
rs201178064
|
|
NM_004369.4(COL6A3):c.4690C>G (p.Arg1564Gly)
|
rs200825417
|
|
NM_004369.4(COL6A3):c.4709G>A (p.Ser1570Asn)
|
rs1473351823
|
|
NM_004369.4(COL6A3):c.4720G>A (p.Gly1574Arg)
|
rs1340303980
|
|
NM_004369.4(COL6A3):c.4729A>G (p.Asn1577Asp)
|
rs1559239453
|
|
NM_004369.4(COL6A3):c.4735G>A (p.Asp1579Asn)
|
|
|
NM_004369.4(COL6A3):c.4739G>T (p.Arg1580Ile)
|
|
|
NM_004369.4(COL6A3):c.4759A>G (p.Thr1587Ala)
|
rs745755603
|
|
NM_004369.4(COL6A3):c.4765G>C (p.Asp1589His)
|
rs904372024
|
|
NM_004369.4(COL6A3):c.4786G>T (p.Val1596Leu)
|
rs886042267
|
|
NM_004369.4(COL6A3):c.4787T>C (p.Val1596Ala)
|
rs1559239279
|
|
NM_004369.4(COL6A3):c.4817A>T (p.Glu1606Val)
|
rs1064796167
|
|
NM_004369.4(COL6A3):c.4825A>G (p.Ile1609Val)
|
|
|
NM_004369.4(COL6A3):c.4826T>A (p.Ile1609Asn)
|
|
|
NM_004369.4(COL6A3):c.4832A>G (p.Asn1611Ser)
|
rs2106352582
|
|
NM_004369.4(COL6A3):c.4837T>C (p.Phe1613Leu)
|
|
|
NM_004369.4(COL6A3):c.4849G>T (p.Ala1617Ser)
|
rs200433282
|
|
NM_004369.4(COL6A3):c.4862C>T (p.Ala1621Val)
|
rs1168631702
|
|
NM_004369.4(COL6A3):c.4873G>A (p.Val1625Met)
|
rs398124121
|
|
NM_004369.4(COL6A3):c.4873G>T (p.Val1625Leu)
|
rs398124121
|
|
NM_004369.4(COL6A3):c.4900+3A>G
|
rs894493736
|
|
NM_004369.4(COL6A3):c.4917C>G (p.Asp1639Glu)
|
rs1553556773
|
|
NM_004369.4(COL6A3):c.4921G>A (p.Val1641Met)
|
|
|
NM_004369.4(COL6A3):c.4922T>A (p.Val1641Glu)
|
rs1559237565
|
|
NM_004369.4(COL6A3):c.4924T>C (p.Phe1642Leu)
|
|
|
NM_004369.4(COL6A3):c.4942A>G (p.Ile1648Val)
|
rs941055048
|
|
NM_004369.4(COL6A3):c.4950C>G (p.Phe1650Leu)
|
rs1574991145
|
|
NM_004369.4(COL6A3):c.4957G>T (p.Asp1653Tyr)
|
rs1574991130
|
|
NM_004369.4(COL6A3):c.4958A>T (p.Asp1653Val)
|
|
|
NM_004369.4(COL6A3):c.4969G>A (p.Glu1657Lys)
|
rs1194443961
|
|
NM_004369.4(COL6A3):c.496A>G (p.Lys166Glu)
|
|
|
NM_004369.4(COL6A3):c.4976_4978del (p.Leu1659del)
|
|
|
NM_004369.4(COL6A3):c.4978C>T (p.Arg1660Cys)
|
rs1553556695
|
|
NM_004369.4(COL6A3):c.497A>G (p.Lys166Arg)
|
|
|
NM_004369.4(COL6A3):c.4984G>T (p.Val1662Leu)
|
rs886043879
|
|
NM_004369.4(COL6A3):c.5002A>G (p.Thr1668Ala)
|
|
|
NM_004369.4(COL6A3):c.500C>T (p.Ser167Phe)
|
rs1028347478
|
|
NM_004369.4(COL6A3):c.5067C>A (p.Asp1689Glu)
|
rs370475865
|
|
NM_004369.4(COL6A3):c.5078T>C (p.Leu1693Pro)
|
|
|
NM_004369.4(COL6A3):c.5083G>A (p.Asp1695Asn)
|
|
|
NM_004369.4(COL6A3):c.5086T>A (p.Phe1696Ile)
|
|
|
NM_004369.4(COL6A3):c.5146C>T (p.His1716Tyr)
|
|
|
NM_004369.4(COL6A3):c.5156C>T (p.Thr1719Ile)
|
|
|
NM_004369.4(COL6A3):c.5159A>G (p.Lys1720Arg)
|
rs2077571169
|
|
NM_004369.4(COL6A3):c.5165G>A (p.Gly1722Asp)
|
rs1553556546
|
|
NM_004369.4(COL6A3):c.5166C>T (p.Gly1722=)
|
|
|
NM_004369.4(COL6A3):c.5168T>G (p.Leu1723Arg)
|
|
|
NM_004369.4(COL6A3):c.5210G>A (p.Ser1737Asn)
|
|
|
NM_004369.4(COL6A3):c.5215C>A (p.Leu1739Met)
|
rs2077569879
|
|
NM_004369.4(COL6A3):c.5221C>A (p.Gln1741Lys)
|
|
|
NM_004369.4(COL6A3):c.5225G>A (p.Arg1742Gln)
|
rs886042855
|
|
NM_004369.4(COL6A3):c.5231C>T (p.Pro1744Leu)
|
|
|
NM_004369.4(COL6A3):c.5269G>C (p.Glu1757Gln)
|
|
|
NM_004369.4(COL6A3):c.5272G>A (p.Asp1758Asn)
|
rs536364005
|
|
NM_004369.4(COL6A3):c.5281G>A (p.Asp1761Asn)
|
|
|
NM_004369.4(COL6A3):c.5305A>T (p.Arg1769Trp)
|
rs2106350563
|
|
NM_004369.4(COL6A3):c.5306G>C (p.Arg1769Thr)
|
|
|
NM_004369.4(COL6A3):c.5307G>T (p.Arg1769Ser)
|
rs755698278
|
|
NM_004369.4(COL6A3):c.5308G>C (p.Gly1770Arg)
|
rs763289509
|
|
NM_004369.4(COL6A3):c.5318T>C (p.Val1773Ala)
|
rs771598463
|
|
NM_004369.4(COL6A3):c.5330G>A (p.Gly1777Glu)
|
|
|
NM_004369.4(COL6A3):c.5351A>G (p.Glu1784Gly)
|
rs2077565368
|
|
NM_004369.4(COL6A3):c.5356G>A (p.Val1786Ile)
|
rs2106350461
|
|
NM_004369.4(COL6A3):c.5372C>A (p.Ser1791Tyr)
|
|
|
NM_004369.4(COL6A3):c.5383A>G (p.Thr1795Ala)
|
|
|
NM_004369.4(COL6A3):c.538G>T (p.Ala180Ser)
|
|
|
NM_004369.4(COL6A3):c.53C>T (p.Ser18Leu)
|
|
|
NM_004369.4(COL6A3):c.5403C>A (p.Asn1801Lys)
|
rs114357878
|
|
NM_004369.4(COL6A3):c.5420A>T (p.Glu1807Val)
|
rs2077563075
|
|
NM_004369.4(COL6A3):c.5426G>A (p.Ser1809Asn)
|
rs1553556280
|
|
NM_004369.4(COL6A3):c.5428G>A (p.Glu1810Lys)
|
|
|
NM_004369.4(COL6A3):c.5428G>C (p.Glu1810Gln)
|
rs1463075616
|
|
NM_004369.4(COL6A3):c.5452G>A (p.Asp1818Asn)
|
|
|
NM_004369.4(COL6A3):c.5459T>C (p.Met1820Thr)
|
|
|
NM_004369.4(COL6A3):c.5479G>A (p.Gly1827Ser)
|
rs1440752292
|
|
NM_004369.4(COL6A3):c.5494G>T (p.Ala1832Ser)
|
|
|
NM_004369.4(COL6A3):c.5500+3A>C
|
rs1345603228
|
|
NM_004369.4(COL6A3):c.5501C>A (p.Ala1834Asp)
|
|
|
NM_004369.4(COL6A3):c.5504G>C (p.Cys1835Ser)
|
rs1559235332
|
|
NM_004369.4(COL6A3):c.5513A>G (p.Asp1838Gly)
|
|
|
NM_004369.4(COL6A3):c.5534G>C (p.Gly1845Ala)
|
rs747200439
|
|
NM_004369.4(COL6A3):c.5552T>C (p.Val1851Ala)
|
rs1559235183
|
|
NM_004369.4(COL6A3):c.5578T>C (p.Ser1860Pro)
|
|
|
NM_004369.4(COL6A3):c.5583G>T (p.Lys1861Asn)
|
rs906293407
|
|
NM_004369.4(COL6A3):c.5590G>A (p.Ala1864Thr)
|
rs756521643
|
|
NM_004369.4(COL6A3):c.5590G>T (p.Ala1864Ser)
|
rs756521643
|
|
NM_004369.4(COL6A3):c.5593A>G (p.Ile1865Val)
|
|
|
NM_004369.4(COL6A3):c.5597T>C (p.Leu1866Ser)
|
rs1465215888
|
|
NM_004369.4(COL6A3):c.5632_5633delinsCC (p.Ser1878Pro)
|
rs1559234936
|
|
NM_004369.4(COL6A3):c.563T>C (p.Ile188Thr)
|
|
|
NM_004369.4(COL6A3):c.5650A>G (p.Thr1884Ala)
|
|
|
NM_004369.4(COL6A3):c.5659G>T (p.Val1887Leu)
|
|
|
NM_004369.4(COL6A3):c.5668G>A (p.Val1890Met)
|
|
|
NM_004369.4(COL6A3):c.5685G>A (p.Ser1895=)
|
rs1026411798
|
|
NM_004369.4(COL6A3):c.5689C>T (p.Pro1897Ser)
|
|
|
NM_004369.4(COL6A3):c.5705A>G (p.Asp1902Gly)
|
|
|
NM_004369.4(COL6A3):c.5713G>A (p.Glu1905Lys)
|
|
|
NM_004369.4(COL6A3):c.5731C>T (p.Leu1911Phe)
|
rs2106349155
|
|
NM_004369.4(COL6A3):c.5752C>A (p.Arg1918Ser)
|
rs750367811
|
|
NM_004369.4(COL6A3):c.5752C>G (p.Arg1918Gly)
|
|
|
NM_004369.4(COL6A3):c.5752C>T (p.Arg1918Cys)
|
|
|
NM_004369.4(COL6A3):c.5765C>G (p.Pro1922Arg)
|
rs1351246573
|
|
NM_004369.4(COL6A3):c.5768A>G (p.Tyr1923Cys)
|
rs1574987599
|
|
NM_004369.4(COL6A3):c.5777C>A (p.Thr1926Lys)
|
|
|
NM_004369.4(COL6A3):c.5794G>A (p.Val1932Ile)
|
rs113817270
|
|
NM_004369.4(COL6A3):c.5804A>G (p.Asn1935Ser)
|
rs1574987505
|
|
NM_004369.4(COL6A3):c.5806A>G (p.Lys1936Glu)
|
|
|
NM_004369.4(COL6A3):c.580A>G (p.Asn194Asp)
|
rs2078384466
|
|
NM_004369.4(COL6A3):c.5838+5G>A
|
rs1553555753
|
|
NM_004369.4(COL6A3):c.5838+9G>C
|
|
|
NM_004369.4(COL6A3):c.5839-9T>G
|
|
|
NM_004369.4(COL6A3):c.5842G>T (p.Val1948Phe)
|
rs1454153037
|
|
NM_004369.4(COL6A3):c.584T>C (p.Met195Thr)
|
rs2078384209
|
|
NM_004369.4(COL6A3):c.587A>G (p.His196Arg)
|
|
|
NM_004369.4(COL6A3):c.5881G>A (p.Asp1961Asn)
|
|
|
NM_004369.4(COL6A3):c.5893G>A (p.Ala1965Thr)
|
rs1364239110
|
|
NM_004369.4(COL6A3):c.5896T>G (p.Ser1966Ala)
|
rs200110562
|
|
NM_004369.4(COL6A3):c.5897C>A (p.Ser1966Tyr)
|
rs2077502544
|
|
NM_004369.4(COL6A3):c.5900A>C (p.Glu1967Ala)
|
rs773896666
|
|
NM_004369.4(COL6A3):c.5908C>T (p.Arg1970Cys)
|
rs886042371
|
|
NM_004369.4(COL6A3):c.5921T>C (p.Val1974Ala)
|
|
|
NM_004369.4(COL6A3):c.5923C>T (p.Arg1975Cys)
|
|
|
NM_004369.4(COL6A3):c.5938G>C (p.Val1980Leu)
|
|
|
NM_004369.4(COL6A3):c.5944C>T (p.Leu1982Phe)
|
|
|
NM_004369.4(COL6A3):c.5951G>A (p.Arg1984Gln)
|
rs1362987398
|
|
NM_004369.4(COL6A3):c.5957T>G (p.Val1986Gly)
|
rs558534346
|
|
NM_004369.4(COL6A3):c.5977C>T (p.His1993Tyr)
|
rs1559231403
|
|
NM_004369.4(COL6A3):c.5989G>A (p.Gly1997Arg)
|
rs1326219992
|
|
NM_004369.4(COL6A3):c.5996G>A (p.Gly1999Glu)
|
|
|
NM_004369.4(COL6A3):c.6022C>G (p.Leu2008Val)
|
rs1211265308
|
|
NM_004369.4(COL6A3):c.6023T>G (p.Leu2008Arg)
|
|
|
NM_004369.4(COL6A3):c.6063+5dup
|
rs2077478134
|
|
NM_004369.4(COL6A3):c.6071T>C (p.Ile2024Thr)
|
|
|
NM_004369.4(COL6A3):c.6076G>A (p.Glu2026Lys)
|
|
|
NM_004369.4(COL6A3):c.6077A>G (p.Glu2026Gly)
|
rs2106344266
|
|
NM_004369.4(COL6A3):c.6086G>A (p.Cys2029Tyr)
|
rs758893173
|
|
NM_004369.4(COL6A3):c.6094G>T (p.Val2032Phe)
|
rs1316305394
|
|
NM_004369.4(COL6A3):c.6119G>A (p.Arg2040Lys)
|
|
|
NM_004369.4(COL6A3):c.6119G>T (p.Arg2040Met)
|
|
|
NM_004369.4(COL6A3):c.611C>A (p.Thr204Asn)
|
rs1574755113
|
|
NM_004369.4(COL6A3):c.6120G>T (p.Arg2040Ser)
|
rs767129751
|
|
NM_004369.4(COL6A3):c.6136A>G (p.Ile2046Val)
|
|
|
NM_004369.4(COL6A3):c.6149G>A (p.Gly2050Glu)
|
|
|
NM_004369.4(COL6A3):c.6152C>T (p.Pro2051Leu)
|
|
|
NM_004369.4(COL6A3):c.6157G>C (p.Gly2053Arg)
|
|
|
NM_004369.4(COL6A3):c.6167G>A (p.Gly2056Glu)
|
rs1064795558
|
|
NM_004369.4(COL6A3):c.6185G>A (p.Gly2062Asp)
|
rs2106343480
|
|
NM_004369.4(COL6A3):c.6188A>G (p.Tyr2063Cys)
|
rs2106343479
|
|
NM_004369.4(COL6A3):c.619C>A (p.His207Asn)
|
rs749985039
|
|
NM_004369.4(COL6A3):c.619C>T (p.His207Tyr)
|
rs749985039
|
|
NM_004369.4(COL6A3):c.6202G>T (p.Gly2068Cys)
|
|
|
NM_004369.4(COL6A3):c.6203G>A (p.Gly2068Asp)
|
rs963783516
|
|
NM_004369.4(COL6A3):c.6210+4dup
|
|
|
NM_004369.4(COL6A3):c.6210+9_6210+19del
|
|
|
NM_004369.4(COL6A3):c.6211-11T>A
|
|
|
NM_004369.4(COL6A3):c.6211-4A>G
|
rs398124127
|
|
NM_004369.4(COL6A3):c.6211G>T (p.Gly2071Cys)
|
rs2106342311
|
|
NM_004369.4(COL6A3):c.6217C>T (p.Arg2073Cys)
|
rs1306849935
|
|
NM_004369.4(COL6A3):c.6232G>A (p.Val2078Met)
|
|
|
NM_004369.4(COL6A3):c.6232G>C (p.Val2078Leu)
|
rs2106342286
|
|
NM_004369.4(COL6A3):c.6235A>T (p.Asn2079Tyr)
|
rs2106342283
|
|
NM_004369.4(COL6A3):c.6236A>G (p.Asn2079Ser)
|
|
|
NM_004369.4(COL6A3):c.6239G>T (p.Gly2080Val)
|
rs794727188
|
|
NM_004369.4(COL6A3):c.6245_6247del (p.Gln2082_Gly2083delinsArg)
|
|
|
NM_004369.4(COL6A3):c.6248G>A (p.Gly2083Asp)
|
|
|
NM_004369.4(COL6A3):c.6260G>A (p.Cys2087Tyr)
|
|
|
NM_004369.4(COL6A3):c.6280A>C (p.Lys2094Gln)
|
rs2106342223
|
|
NM_004369.4(COL6A3):c.6283-28A>G
|
|
|
NM_004369.4(COL6A3):c.6287C>T (p.Ser2096Phe)
|
rs765213888
|
|
NM_004369.4(COL6A3):c.6290G>A (p.Arg2097Gln)
|
rs79375816
|
|
NM_004369.4(COL6A3):c.6293G>T (p.Gly2098Val)
|
rs794727206
|
|
NM_004369.4(COL6A3):c.6309+10C>G
|
rs2077385627
|
|
NM_004369.4(COL6A3):c.6309+3A>T
|
rs1553553327
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
NM_004369.4(COL6A3):c.6317T>G (p.Val2106Gly)
|
|
|
NM_004369.4(COL6A3):c.6354+5G>A
|
|
|
NM_004369.4(COL6A3):c.6356G>A (p.Gly2119Glu)
|
rs1574974640
|
|
NM_004369.4(COL6A3):c.6371C>G (p.Pro2124Arg)
|
|
|
NM_004369.4(COL6A3):c.6391G>A (p.Gly2131Arg)
|
|
|
NM_004369.4(COL6A3):c.6416A>T (p.Lys2139Ile)
|
|
|
NM_004369.4(COL6A3):c.6424C>G (p.Arg2142Gly)
|
rs530866854
|
|
NM_004369.4(COL6A3):c.6427G>A (p.Gly2143Arg)
|
|
|
NM_004369.4(COL6A3):c.6434_6469dup (p.Asp2156_Pro2157insGlnGlyGluArgGlyAspValGlyIleArgGlyAsp)
|
rs2106340479
|
|
NM_004369.4(COL6A3):c.6436G>A (p.Gly2146Arg)
|
rs2106340509
|
|
NM_004369.4(COL6A3):c.6443G>A (p.Arg2148Lys)
|
rs1574973805
|
|
NM_004369.4(COL6A3):c.6448G>A (p.Asp2150Asn)
|
rs2077367323
|
|
NM_004369.4(COL6A3):c.6458T>C (p.Ile2153Thr)
|
|
|
NM_004369.4(COL6A3):c.6461G>C (p.Arg2154Pro)
|
rs145561490
|
|
NM_004369.4(COL6A3):c.647G>C (p.Cys216Ser)
|
|
|
NM_004369.4(COL6A3):c.6489C>G (p.Asp2163Glu)
|
rs758376967
|
|
NM_004369.4(COL6A3):c.649G>T (p.Val217Leu)
|
rs745761792
|
|
NM_004369.4(COL6A3):c.6514G>C (p.Glu2172Gln)
|
|
|
NM_004369.4(COL6A3):c.6529G>A (p.Gly2177Ser)
|
|
|
NM_004369.4(COL6A3):c.6533C>G (p.Pro2178Arg)
|
rs762287373
|
|
NM_004369.4(COL6A3):c.6533C>T (p.Pro2178Leu)
|
|
|
NM_004369.4(COL6A3):c.6535A>C (p.Met2179Leu)
|
|
|
NM_004369.4(COL6A3):c.6559G>C (p.Val2187Leu)
|
rs2106339211
|
|
NM_004369.4(COL6A3):c.658T>A (p.Ser220Thr)
|
|
|
NM_004369.4(COL6A3):c.6591+5G>A
|
rs1574971639
|
|
NM_004369.4(COL6A3):c.6595G>A (p.Gly2199Ser)
|
rs761353795
|
|
NM_004369.4(COL6A3):c.6596G>A (p.Gly2199Asp)
|
rs1319341064
|
|
NM_004369.4(COL6A3):c.6619G>A (p.Gly2207Arg)
|
|
|
NM_004369.4(COL6A3):c.6622G>A (p.Ala2208Thr)
|
rs398124129
|
|
NM_004369.4(COL6A3):c.6627+3G>A
|
|
|
NM_004369.4(COL6A3):c.6662A>T (p.Glu2221Val)
|
rs2106334478
|
|
NM_004369.4(COL6A3):c.6697GCTGGTCCT[3] (p.Pro2238_Pro2239insAlaGlyPro)
|
|
|
NM_004369.4(COL6A3):c.6715C>G (p.Pro2239Ala)
|
rs1574963550
|
|
NM_004369.4(COL6A3):c.6724A>G (p.Ile2242Val)
|
|
|
NM_004369.4(COL6A3):c.6730G>C (p.Glu2244Gln)
|
rs753307921
|
|
NM_004369.4(COL6A3):c.6739A>G (p.Ile2247Val)
|
rs1473692842
|
|
NM_004369.4(COL6A3):c.6752G>A (p.Arg2251Gln)
|
|
|
NM_004369.4(COL6A3):c.6760G>A (p.Gly2254Arg)
|
|
|
NM_004369.4(COL6A3):c.6775G>A (p.Ala2259Thr)
|
rs2077198497
|
|
NM_004369.4(COL6A3):c.6776C>G (p.Ala2259Gly)
|
|
|
NM_004369.4(COL6A3):c.6776C>T (p.Ala2259Val)
|
|
|
NM_004369.4(COL6A3):c.6788G>A (p.Arg2263Gln)
|
|
|
NM_004369.4(COL6A3):c.6790G>A (p.Gly2264Ser)
|
|
|
NM_004369.4(COL6A3):c.6802C>T (p.Pro2268Ser)
|
|
|
NM_004369.4(COL6A3):c.6816G>C (p.Lys2272Asn)
|
rs2077197570
|
|
NM_004369.4(COL6A3):c.6826G>A (p.Gly2276Arg)
|
rs761156771
|
|
NM_004369.4(COL6A3):c.682G>T (p.Asp228Tyr)
|
|
|
NM_004369.4(COL6A3):c.6832C>A (p.Pro2278Thr)
|
rs1574958818
|
|
NM_004369.4(COL6A3):c.6848G>T (p.Gly2283Val)
|
rs1186288111
|
|
NM_004369.4(COL6A3):c.6878C>A (p.Thr2293Lys)
|
rs759657526
|
|
NM_004369.4(COL6A3):c.6879G>A (p.Thr2293=)
|
rs886044656
|
|
NM_004369.4(COL6A3):c.6889G>A (p.Gly2297Arg)
|
rs1224613890
|
|
NM_004369.4(COL6A3):c.6901G>A (p.Val2301Ile)
|
|
|
NM_004369.4(COL6A3):c.6901G>T (p.Val2301Phe)
|
rs1559212695
|
|
NM_004369.4(COL6A3):c.6908G>C (p.Ser2303Thr)
|
rs2106329002
|
|
NM_004369.4(COL6A3):c.6914G>A (p.Gly2305Glu)
|
|
|
NM_004369.4(COL6A3):c.6916C>A (p.Arg2306Ser)
|
rs370862741
|
|
NM_004369.4(COL6A3):c.6917G>A (p.Arg2306His)
|
rs1177122610
|
|
NM_004369.4(COL6A3):c.692C>A (p.Thr231Asn)
|
|
|
NM_004369.4(COL6A3):c.6930A>T (p.Lys2310Asn)
|
|
|
NM_004369.4(COL6A3):c.6946C>T (p.Pro2316Ser)
|
rs1243164167
|
|
NM_004369.4(COL6A3):c.6956C>A (p.Pro2319Gln)
|
|
|
NM_004369.4(COL6A3):c.6956C>T (p.Pro2319Leu)
|
rs751617505
|
|
NM_004369.4(COL6A3):c.6972C>A (p.Asn2324Lys)
|
rs113961575
|
|
NM_004369.4(COL6A3):c.6973C>A (p.Pro2325Thr)
|
rs886044392
|
|
NM_004369.4(COL6A3):c.6973C>G (p.Pro2325Ala)
|
rs886044392
|
|
NM_004369.4(COL6A3):c.6982C>A (p.Pro2328Thr)
|
rs371637449
|
|
NM_004369.4(COL6A3):c.7006C>T (p.Pro2336Ser)
|
rs2077126598
|
|
NM_004369.4(COL6A3):c.7007C>A (p.Pro2336His)
|
|
|
NM_004369.4(COL6A3):c.7016T>C (p.Ile2339Thr)
|
|
|
NM_004369.4(COL6A3):c.7022G>A (p.Gly2341Asp)
|
|
|
NM_004369.4(COL6A3):c.7039G>A (p.Gly2347Arg)
|
rs2106326911
|
|
NM_004369.4(COL6A3):c.7040G>A (p.Gly2347Glu)
|
|
|
NM_004369.4(COL6A3):c.7055T>G (p.Val2352Gly)
|
rs1482724586
|
|
NM_004369.4(COL6A3):c.7069G>A (p.Asp2357Asn)
|
|
|
NM_004369.4(COL6A3):c.7081C>T (p.Pro2361Ser)
|
rs934983963
|
|
NM_004369.4(COL6A3):c.7087C>G (p.Pro2363Ala)
|
|
|
NM_004369.4(COL6A3):c.7092+5G>A
|
|
|
NM_004369.4(COL6A3):c.709G>A (p.Ala237Thr)
|
rs1553564820
|
|
NM_004369.4(COL6A3):c.7100A>G (p.Lys2367Arg)
|
|
|
NM_004369.4(COL6A3):c.7112G>A (p.Gly2371Asp)
|
|
|
NM_004369.4(COL6A3):c.7123G>C (p.Asp2375His)
|
|
|
NM_004369.4(COL6A3):c.7133C>G (p.Ala2378Gly)
|
|
|
NM_004369.4(COL6A3):c.7162+2dup
|
|
|
NM_004369.4(COL6A3):c.7162C>T (p.Pro2388Ser)
|
|
|
NM_004369.4(COL6A3):c.716A>G (p.Asp239Gly)
|
rs2078202028
|
|
NM_004369.4(COL6A3):c.7174+5G>A
|
rs777424537
|
|
NM_004369.4(COL6A3):c.7174+5G>T
|
|
|
NM_004369.4(COL6A3):c.7175-3C>T
|
|
|
NM_004369.4(COL6A3):c.7178C>T (p.Pro2393Leu)
|
|
|
NM_004369.4(COL6A3):c.717C>A (p.Asp239Glu)
|
rs2078201961
|
|
NM_004369.4(COL6A3):c.7208T>C (p.Leu2403Pro)
|
rs2077065222
|
|
NM_004369.4(COL6A3):c.7217C>T (p.Ala2406Val)
|
rs2077064946
|
|
NM_004369.4(COL6A3):c.7231G>A (p.Glu2411Lys)
|
|
|
NM_004369.4(COL6A3):c.724G>A (p.Asp242Asn)
|
|
|
NM_004369.4(COL6A3):c.7254C>A (p.Phe2418Leu)
|
rs768794876
|
|
NM_004369.4(COL6A3):c.7267G>C (p.Asp2423His)
|
|
|
NM_004369.4(COL6A3):c.7289A>G (p.Asn2430Ser)
|
|
|
NM_004369.4(COL6A3):c.7298C>T (p.Thr2433Ile)
|
|
|
NM_004369.4(COL6A3):c.7300A>T (p.Ile2434Phe)
|
|
|
NM_004369.4(COL6A3):c.7310G>A (p.Ser2437Asn)
|
|
|
NM_004369.4(COL6A3):c.7321C>T (p.Arg2441Trp)
|
|
|
NM_004369.4(COL6A3):c.7324G>T (p.Gly2442Trp)
|
|
|
NM_004369.4(COL6A3):c.7327G>C (p.Ala2443Pro)
|
|
|
NM_004369.4(COL6A3):c.7330C>T (p.Arg2444Trp)
|
rs771424958
|
|
NM_004369.4(COL6A3):c.7334T>C (p.Val2445Ala)
|
|
|
NM_004369.4(COL6A3):c.7339G>A (p.Val2447Met)
|
rs1400293403
|
|
NM_004369.4(COL6A3):c.733T>A (p.Phe245Ile)
|
rs2106379268
|
|
NM_004369.4(COL6A3):c.7345A>G (p.Thr2449Ala)
|
rs2077061420
|
|
NM_004369.4(COL6A3):c.7357G>A (p.Glu2453Lys)
|
rs886044364
|
|
NM_004369.4(COL6A3):c.7359G>C (p.Glu2453Asp)
|
rs114199044
|
|
NM_004369.4(COL6A3):c.7386C>G (p.Asp2462Glu)
|
rs2077060526
|
|
NM_004369.4(COL6A3):c.7405C>T (p.Leu2469Phe)
|
|
|
NM_004369.4(COL6A3):c.7451A>C (p.Gln2484Pro)
|
rs1574948119
|
|
NM_004369.4(COL6A3):c.7462G>A (p.Glu2488Lys)
|
rs2106324901
|
|
NM_004369.4(COL6A3):c.7463A>G (p.Glu2488Gly)
|
|
|
NM_004369.4(COL6A3):c.7466C>T (p.Thr2489Ile)
|
rs2106324896
|
|
NM_004369.4(COL6A3):c.746G>A (p.Gly249Glu)
|
|
|
NM_004369.4(COL6A3):c.7471A>G (p.Met2491Val)
|
|
|
NM_004369.4(COL6A3):c.74C>A (p.Ala25Asp)
|
rs398124134
|
|
NM_004369.4(COL6A3):c.7504G>A (p.Val2502Met)
|
rs1446344528
|
|
NM_004369.4(COL6A3):c.751A>G (p.Asn251Asp)
|
|
|
NM_004369.4(COL6A3):c.7524G>T (p.Met2508Ile)
|
|
|
NM_004369.4(COL6A3):c.752A>C (p.Asn251Thr)
|
|
|
NM_004369.4(COL6A3):c.7546A>G (p.Ser2516Gly)
|
rs749651818
|
|
NM_004369.4(COL6A3):c.7573C>G (p.Gln2525Glu)
|
rs2077056501
|
|
NM_004369.4(COL6A3):c.7589T>C (p.Val2530Ala)
|
|
|
NM_004369.4(COL6A3):c.758C>A (p.Thr253Asn)
|
rs201283466
|
|
NM_004369.4(COL6A3):c.7595A>G (p.Lys2532Arg)
|
|
|
NM_004369.4(COL6A3):c.7597C>A (p.Leu2533Ile)
|
|
|
NM_004369.4(COL6A3):c.759_764del (p.Gly254_Ser255del)
|
|
|
NM_004369.4(COL6A3):c.7603G>T (p.Asp2535Tyr)
|
rs2106324714
|
|
NM_004369.4(COL6A3):c.7668+5G>C
|
|
|
NM_004369.4(COL6A3):c.7668G>T (p.Gln2556His)
|
rs1553547891
|
|
NM_004369.4(COL6A3):c.7669-3C>T
|
rs763071900
|
|
NM_004369.4(COL6A3):c.7682C>T (p.Ala2561Val)
|
|
|
NM_004369.4(COL6A3):c.7687G>A (p.Gly2563Arg)
|
rs780964113
|
|
NM_004369.4(COL6A3):c.7699G>A (p.Val2567Ile)
|
rs1559203170
|
|
NM_004369.4(COL6A3):c.7703T>A (p.Leu2568Gln)
|
rs2077000191
|
|
NM_004369.4(COL6A3):c.7765+17A>G
|
rs761150742
|
|
NM_004369.4(COL6A3):c.7766A>G (p.Asp2589Gly)
|
|
|
NM_004369.4(COL6A3):c.7767C>A (p.Asp2589Glu)
|
rs1553546746
|
|
NM_004369.4(COL6A3):c.7768A>T (p.Ile2590Phe)
|
|
|
NM_004369.4(COL6A3):c.7795T>C (p.Phe2599Leu)
|
|
|
NM_004369.4(COL6A3):c.77A>G (p.Gln26Arg)
|
rs1381568881
|
|
NM_004369.4(COL6A3):c.7808G>A (p.Arg2603Lys)
|
|
|
NM_004369.4(COL6A3):c.7808G>C (p.Arg2603Thr)
|
|
|
NM_004369.4(COL6A3):c.7810C>T (p.Pro2604Ser)
|
|
|
NM_004369.4(COL6A3):c.7832C>A (p.Ala2611Glu)
|
rs114806654
|
|
NM_004369.4(COL6A3):c.7850A>G (p.Asp2617Gly)
|
|
|
NM_004369.4(COL6A3):c.7851C>G (p.Asp2617Glu)
|
|
|
NM_004369.4(COL6A3):c.7882G>A (p.Glu2628Lys)
|
|
|
NM_004369.4(COL6A3):c.7898T>G (p.Phe2633Cys)
|
|
|
NM_004369.4(COL6A3):c.7901A>G (p.Gln2634Arg)
|
|
|
NM_004369.4(COL6A3):c.7913T>C (p.Met2638Thr)
|
rs2106320038
|
|
NM_004369.4(COL6A3):c.7936G>C (p.Val2646Leu)
|
rs1419214464
|
|
NM_004369.4(COL6A3):c.7948G>A (p.Asp2650Asn)
|
rs890268146
|
|
NM_004369.4(COL6A3):c.7969G>C (p.Ala2657Pro)
|
rs1192265506
|
|
NM_004369.4(COL6A3):c.7979A>G (p.His2660Arg)
|
|
|
NM_004369.4(COL6A3):c.7993G>A (p.Ala2665Thr)
|
rs1559201034
|
|
NM_004369.4(COL6A3):c.7996G>A (p.Val2666Ile)
|
|
|
NM_004369.4(COL6A3):c.8014T>G (p.Ser2672Ala)
|
|
|
NM_004369.4(COL6A3):c.8023G>A (p.Val2675Met)
|
|
|
NM_004369.4(COL6A3):c.8045C>G (p.Pro2682Arg)
|
rs761740861
|
|
NM_004369.4(COL6A3):c.8063C>T (p.Ser2688Phe)
|
|
|
NM_004369.4(COL6A3):c.80A>G (p.Gln27Arg)
|
|
|
NM_004369.4(COL6A3):c.8114G>T (p.Gly2705Val)
|
rs957705259
|
|
NM_004369.4(COL6A3):c.8127G>T (p.Leu2709Phe)
|
rs1031349800
|
|
NM_004369.4(COL6A3):c.8150G>A (p.Ser2717Asn)
|
rs763974888
|
|
NM_004369.4(COL6A3):c.8150G>C (p.Ser2717Thr)
|
rs763974888
|
|
NM_004369.4(COL6A3):c.8156T>C (p.Ile2719Thr)
|
|
|
NM_004369.4(COL6A3):c.8196C>G (p.Asn2732Lys)
|
|
|
NM_004369.4(COL6A3):c.8200C>T (p.Arg2734Trp)
|
rs756868781
|
|
NM_004369.4(COL6A3):c.8224A>C (p.Met2742Leu)
|
|
|
NM_004369.4(COL6A3):c.8257G>A (p.Glu2753Lys)
|
rs144130137
|
|
NM_004369.4(COL6A3):c.8257G>C (p.Glu2753Gln)
|
|
|
NM_004369.4(COL6A3):c.8264C>T (p.Ala2755Val)
|
rs770586429
|
|
NM_004369.4(COL6A3):c.8267A>C (p.Gln2756Pro)
|
rs2076967534
|
|
NM_004369.4(COL6A3):c.8308G>A (p.Val2770Met)
|
rs886044644
|
|
NM_004369.4(COL6A3):c.8351A>T (p.Tyr2784Phe)
|
rs2106319405
|
|
NM_004369.4(COL6A3):c.8386A>G (p.Lys2796Glu)
|
rs2106319353
|
|
NM_004369.4(COL6A3):c.838C>G (p.Arg280Gly)
|
|
|
NM_004369.4(COL6A3):c.8440A>T (p.Arg2814Trp)
|
rs1553546042
|
|
NM_004369.4(COL6A3):c.8449C>T (p.Pro2817Ser)
|
|
|
NM_004369.4(COL6A3):c.8450C>T (p.Pro2817Leu)
|
|
|
NM_004369.4(COL6A3):c.8479T>A (p.Tyr2827Asn)
|
|
|
NM_004369.4(COL6A3):c.847G>C (p.Val283Leu)
|
|
|
NM_004369.4(COL6A3):c.8491G>T (p.Asp2831Tyr)
|
|
|
NM_004369.4(COL6A3):c.8500A>C (p.Lys2834Gln)
|
|
|
NM_004369.4(COL6A3):c.8566G>A (p.Val2856Ile)
|
|
|
NM_004369.4(COL6A3):c.8588C>T (p.Thr2863Ile)
|
|
|
NM_004369.4(COL6A3):c.862G>C (p.Asp288His)
|
|
|
NM_004369.4(COL6A3):c.8634_8651del (p.2875KPVTTT[1])
|
rs780678900
|
|
NM_004369.4(COL6A3):c.8637_8654dup (p.2875KPVTTT[3])
|
rs1167608831
|
|
NM_004369.4(COL6A3):c.8644C>T (p.Pro2882Ser)
|
rs1553544899
|
|
NM_004369.4(COL6A3):c.8670_8690dup (p.Thr2898_Ile2899insThrThrThrLysProValThr)
|
|
|
NM_004369.4(COL6A3):c.8698A>C (p.Ile2900Leu)
|
rs1553544853
|
|
NM_004369.4(COL6A3):c.8725G>T (p.Ala2909Ser)
|
|
|
NM_004369.4(COL6A3):c.8740C>T (p.Pro2914Ser)
|
|
|
NM_004369.4(COL6A3):c.8750C>A (p.Pro2917His)
|
rs1559194476
|
|
NM_004369.4(COL6A3):c.8758_8772dup (p.Ala2924_Thr2925insAlaLysProValAla)
|
|
|
NM_004369.4(COL6A3):c.8759C>A (p.Ala2920Asp)
|
rs1455583519
|
|
NM_004369.4(COL6A3):c.8764C>T (p.Pro2922Ser)
|
|
|
NM_004369.4(COL6A3):c.8773A>G (p.Thr2925Ala)
|
|
|
NM_004369.4(COL6A3):c.8779_8780delinsTC (p.Met2927Ser)
|
rs2106314453
|
|
NM_004369.4(COL6A3):c.8789T>C (p.Val2930Ala)
|
rs1700542767
|
|
NM_004369.4(COL6A3):c.878T>C (p.Met293Thr)
|
rs1361910233
|
|
NM_004369.4(COL6A3):c.8798C>A (p.Pro2933Gln)
|
|
|
NM_004369.4(COL6A3):c.87A>T (p.Gln29His)
|
rs775946239
|
|
NM_004369.4(COL6A3):c.8801T>G (p.Val2934Gly)
|
rs1440572476
|
|
NM_004369.4(COL6A3):c.8804C>A (p.Ala2935Glu)
|
rs36020669
|
|
NM_004369.4(COL6A3):c.8828A>G (p.Lys2943Arg)
|
rs1700539745
|
|
NM_004369.4(COL6A3):c.8860C>T (p.Pro2954Ser)
|
|
|
NM_004369.4(COL6A3):c.8861C>A (p.Pro2954His)
|
|
|
NM_004369.4(COL6A3):c.8863C>T (p.Pro2955Ser)
|
rs1700538106
|
|
NM_004369.4(COL6A3):c.8868TGC[5] (p.Ala2960dup)
|
rs35879189
|
|
NM_004369.4(COL6A3):c.8870C>T (p.Ala2957Val)
|
rs1287394484
|
|
NM_004369.4(COL6A3):c.8873C>A (p.Ala2958Asp)
|
|
|
NM_004369.4(COL6A3):c.8914C>T (p.Pro2972Ser)
|
rs1256198664
|
|
NM_004369.4(COL6A3):c.8928_8929insGCAGCTGCCACCAAGCCAGCCAAA (p.Lys2976_Pro2977insAlaAlaAlaThrLysProAlaLys)
|
|
|
NM_004369.4(COL6A3):c.8966-3C>T
|
|
|
NM_004369.4(COL6A3):c.8987A>G (p.Gln2996Arg)
|
|
|
NM_004369.4(COL6A3):c.898T>A (p.Ser300Thr)
|
rs1559270845
|
|
NM_004369.4(COL6A3):c.898T>G (p.Ser300Ala)
|
|
|
NM_004369.4(COL6A3):c.898_900del (p.Ser300del)
|
rs554176183
|
|
NM_004369.4(COL6A3):c.8993T>C (p.Phe2998Ser)
|
rs1187707448
|
|
NM_004369.4(COL6A3):c.9013G>A (p.Ala3005Thr)
|
|
|
NM_004369.4(COL6A3):c.9014C>T (p.Ala3005Val)
|
|
|
NM_004369.4(COL6A3):c.904A>G (p.Lys302Glu)
|
|
|
NM_004369.4(COL6A3):c.9061_9063del (p.Asp3021del)
|
rs756150789
|
|
NM_004369.4(COL6A3):c.9076T>C (p.Ser3026Pro)
|
rs1700446197
|
|
NM_004369.4(COL6A3):c.9080C>T (p.Ala3027Val)
|
rs1299012840
|
|
NM_004369.4(COL6A3):c.9083A>C (p.His3028Pro)
|
|
|
NM_004369.4(COL6A3):c.9083A>G (p.His3028Arg)
|
|
|
NM_004369.4(COL6A3):c.9087T>A (p.Asp3029Glu)
|
rs1553544136
|
|
NM_004369.4(COL6A3):c.91+4A>G
|
|
|
NM_004369.4(COL6A3):c.9133A>G (p.Ile3045Val)
|
|
|
NM_004369.4(COL6A3):c.9137G>T (p.Gly3046Val)
|
|
|
NM_004369.4(COL6A3):c.913G>T (p.Val305Phe)
|
|
|
NM_004369.4(COL6A3):c.9175G>T (p.Val3059Phe)
|
|
|
NM_004369.4(COL6A3):c.9182A>C (p.Tyr3061Ser)
|
|
|
NM_004369.4(COL6A3):c.9203C>T (p.Ala3068Val)
|
|
|
NM_004369.4(COL6A3):c.9218G>A (p.Ser3073Asn)
|
|
|
NM_004369.4(COL6A3):c.9229+4_9229+7del
|
|
|
NM_004369.4(COL6A3):c.9231G>T (p.Lys3077Asn)
|
|
|
NM_004369.4(COL6A3):c.9241C>T (p.Pro3081Ser)
|
rs1700374826
|
|
NM_004369.4(COL6A3):c.9245C>T (p.Pro3082Leu)
|
rs182976977
|
|
NM_004369.4(COL6A3):c.9247C>T (p.Pro3083Ser)
|
|
|
NM_004369.4(COL6A3):c.9248C>T (p.Pro3083Leu)
|
|
|
NM_004369.4(COL6A3):c.9281C>T (p.Thr3094Ile)
|
rs1700373011
|
|
NM_004369.4(COL6A3):c.9308C>A (p.Pro3103Gln)
|
rs1288932366
|
|
NM_004369.4(COL6A3):c.9326C>T (p.Thr3109Ile)
|
|
|
NM_004369.4(COL6A3):c.9328+3G>A
|
|
|
NM_004369.4(COL6A3):c.9329-14T>A
|
|
|
NM_004369.4(COL6A3):c.9329A>C (p.Asp3110Ala)
|
|
|
NM_004369.4(COL6A3):c.932C>T (p.Ala311Val)
|
rs781284019
|
|
NM_004369.4(COL6A3):c.9334T>C (p.Cys3112Arg)
|
|
|
NM_004369.4(COL6A3):c.9358A>G (p.Thr3120Ala)
|
|
|
NM_004369.4(COL6A3):c.9391G>A (p.Asp3131Asn)
|
|
|
NM_004369.4(COL6A3):c.9401C>T (p.Thr3134Ile)
|
|
|
NM_004369.4(COL6A3):c.9416G>A (p.Arg3139Lys)
|
rs1699900051
|
|
NM_004369.4(COL6A3):c.9418T>G (p.Phe3140Val)
|
rs886042448
|
|
NM_004369.4(COL6A3):c.9449A>G (p.Asn3150Ser)
|
|
|
NM_004369.4(COL6A3):c.9450C>A (p.Asn3150Lys)
|
|
|
NM_004369.4(COL6A3):c.9458G>T (p.Gly3153Val)
|
rs1553541451
|
|
NM_004369.4(COL6A3):c.9465G>C (p.Gln3155His)
|
|
|
NM_004369.4(COL6A3):c.9472_9476dup (p.Glu3159fs)
|
|
|
NM_004369.4(COL6A3):c.9477A>C (p.Glu3159Asp)
|
|
|
NM_004369.4(COL6A3):c.9481del (p.Val3161fs)
|
|
|
NM_004369.4(COL6A3):c.9494T>G (p.Val3165Gly)
|
|
|
NM_004369.4(COL6A3):c.9529A>C (p.Thr3177Pro)
|
rs2106297671
|
|
NM_004369.4(COL6A3):c.964A>G (p.Ile322Val)
|
|
|
NM_004369.4(COL6A3):c.965T>A (p.Ile322Asn)
|
rs2078191004
|
|
NM_004369.4(COL6A3):c.979G>T (p.Asp327Tyr)
|
rs2078190150
|
|
NM_004369.4(COL6A3):c.985G>A (p.Val329Met)
|
rs542283928
|
|
NM_004369.4(COL6A3):c.985G>C (p.Val329Leu)
|
|
|
NM_004369.4(COL6A3):c.993G>C (p.Glu331Asp)
|
|
|
NM_004370.6(COL12A1):c.1023T>G (p.Ile341Met)
|
|
|
NM_004370.6(COL12A1):c.1024G>A (p.Ala342Thr)
|
rs2149467566
|
|
NM_004370.6(COL12A1):c.1028T>C (p.Met343Thr)
|
|
|
NM_004370.6(COL12A1):c.1043A>T (p.Lys348Ile)
|
|
|
NM_004370.6(COL12A1):c.1045T>C (p.Tyr349His)
|
rs1769481285
|
|
NM_004370.6(COL12A1):c.1048G>A (p.Val350Ile)
|
|
|
NM_004370.6(COL12A1):c.1053G>T (p.Lys351Asn)
|
rs1562297952
|
|
NM_004370.6(COL12A1):c.106A>G (p.Ile36Val)
|
|
|
NM_004370.6(COL12A1):c.1077T>A (p.Ser359Arg)
|
|
|
NM_004370.6(COL12A1):c.1081G>A (p.Val361Met)
|
rs2149467444
|
|
NM_004370.6(COL12A1):c.1102C>T (p.Leu368Phe)
|
|
|
NM_004370.6(COL12A1):c.1106C>T (p.Thr369Ile)
|
rs1253680957
|
|
NM_004370.6(COL12A1):c.1109C>A (p.Pro370Gln)
|
rs2149467365
|
|
NM_004370.6(COL12A1):c.1112T>G (p.Met371Arg)
|
|
|
NM_004370.6(COL12A1):c.1135G>A (p.Ala379Thr)
|
rs779083996
|
|
NM_004370.6(COL12A1):c.1138C>G (p.Leu380Val)
|
|
|
NM_004370.6(COL12A1):c.1141A>G (p.Ser381Gly)
|
|
|
NM_004370.6(COL12A1):c.1151C>T (p.Pro384Leu)
|
|
|
NM_004370.6(COL12A1):c.1153del (p.Gln385fs)
|
|
|
NM_004370.6(COL12A1):c.1159A>G (p.Thr387Ala)
|
rs1582198440
|
|
NM_004370.6(COL12A1):c.1168A>C (p.Ser390Arg)
|
|
|
NM_004370.6(COL12A1):c.1178A>T (p.Asp393Val)
|
rs1032545730
|
|
NM_004370.6(COL12A1):c.1201C>T (p.Gln401Ter)
|
rs2149467117
|
|
NM_004370.6(COL12A1):c.1204A>G (p.Ile402Val)
|
rs1582198261
|
|
NM_004370.6(COL12A1):c.1223A>C (p.Lys408Thr)
|
rs1325717704
|
|
NM_004370.6(COL12A1):c.1225G>C (p.Gly409Arg)
|
|
|
NM_004370.6(COL12A1):c.125A>G (p.His42Arg)
|
rs760445921
|
|
NM_004370.6(COL12A1):c.1263G>C (p.Lys421Asn)
|
rs2149466995
|
|
NM_004370.6(COL12A1):c.1273A>G (p.Met425Val)
|
rs2149466974
|
|
NM_004370.6(COL12A1):c.1276A>G (p.Lys426Glu)
|
rs1562297194
|
|
NM_004370.6(COL12A1):c.1278A>C (p.Lys426Asn)
|
rs1769466109
|
|
NM_004370.6(COL12A1):c.1292G>A (p.Cys431Tyr)
|
|
|
NM_004370.6(COL12A1):c.1295C>T (p.Ser432Leu)
|
rs1769450841
|
|
NM_004370.6(COL12A1):c.1303G>A (p.Val435Met)
|
rs1769449076
|
|
NM_004370.6(COL12A1):c.1337A>T (p.Asp446Val)
|
|
|
NM_004370.6(COL12A1):c.1368T>A (p.Phe456Leu)
|
|
|
NM_004370.6(COL12A1):c.136G>A (p.Ala46Thr)
|
|
|
NM_004370.6(COL12A1):c.1372A>C (p.Lys458Gln)
|
|
|
NM_004370.6(COL12A1):c.1381G>A (p.Ala461Thr)
|
|
|
NM_004370.6(COL12A1):c.1391A>G (p.Glu464Gly)
|
|
|
NM_004370.6(COL12A1):c.1414A>G (p.Ile472Val)
|
rs2149466346
|
|
NM_004370.6(COL12A1):c.1425T>A (p.Asn475Lys)
|
|
|
NM_004370.6(COL12A1):c.1427G>C (p.Arg476Thr)
|
|
|
NM_004370.6(COL12A1):c.1441C>T (p.Leu481Phe)
|
|
|
NM_004370.6(COL12A1):c.1467T>G (p.His489Gln)
|
rs779234808
|
|
NM_004370.6(COL12A1):c.1489T>C (p.Phe497Leu)
|
|
|
NM_004370.6(COL12A1):c.1489T>G (p.Phe497Val)
|
rs1769434215
|
|
NM_004370.6(COL12A1):c.1508T>C (p.Ile503Thr)
|
|
|
NM_004370.6(COL12A1):c.1519A>G (p.Ile507Val)
|
|
|
NM_004370.6(COL12A1):c.1524C>A (p.Asn508Lys)
|
rs2149466133
|
|
NM_004370.6(COL12A1):c.1525del (p.Thr509fs)
|
|
|
NM_004370.6(COL12A1):c.1543G>A (p.Gly515Arg)
|
rs2149466076
|
|
NM_004370.6(COL12A1):c.1553A>C (p.Asn518Thr)
|
|
|
NM_004370.6(COL12A1):c.1555A>G (p.Thr519Ala)
|
|
|
NM_004370.6(COL12A1):c.1559G>C (p.Gly520Ala)
|
|
|
NM_004370.6(COL12A1):c.155T>C (p.Ile52Thr)
|
rs1770137078
|
|
NM_004370.6(COL12A1):c.1560C>T (p.Gly520=)
|
rs2149466030
|
|
NM_004370.6(COL12A1):c.1561A>G (p.Lys521Glu)
|
rs774728500
|
|
NM_004370.6(COL12A1):c.1569G>T (p.Met523Ile)
|
|
|
NM_004370.6(COL12A1):c.1594G>A (p.Val532Met)
|
|
|
NM_004370.6(COL12A1):c.1601G>A (p.Ser534Asn)
|
rs2149465941
|
|
NM_004370.6(COL12A1):c.1606G>A (p.Gly536Arg)
|
|
|
NM_004370.6(COL12A1):c.1621G>A (p.Val541Met)
|
rs1769421436
|
|
NM_004370.6(COL12A1):c.1631T>A (p.Val544Asp)
|
rs1769421051
|
|
NM_004370.6(COL12A1):c.1639C>T (p.Leu547Phe)
|
|
|
NM_004370.6(COL12A1):c.163T>C (p.Tyr55His)
|
|
|
NM_004370.6(COL12A1):c.1646C>T (p.Thr549Met)
|
rs557804521
|
|
NM_004370.6(COL12A1):c.1649A>G (p.Asp550Gly)
|
rs2149465853
|
|
NM_004370.6(COL12A1):c.1672A>G (p.Arg558Gly)
|
rs1002113974
|
|
NM_004370.6(COL12A1):c.1673G>C (p.Arg558Thr)
|
|
|
NM_004370.6(COL12A1):c.1677T>A (p.Asp559Glu)
|
rs2149465802
|
|
NM_004370.6(COL12A1):c.1678C>T (p.Pro560Ser)
|
rs775466928
|
|
NM_004370.6(COL12A1):c.1679C>T (p.Pro560Leu)
|
rs2149465788
|
|
NM_004370.6(COL12A1):c.1682C>A (p.Ala561Glu)
|
|
|
NM_004370.6(COL12A1):c.1682C>T (p.Ala561Val)
|
rs1344964508
|
|
NM_004370.6(COL12A1):c.1697del (p.Asn566fs)
|
|
|
NM_004370.6(COL12A1):c.1732G>A (p.Asp578Asn)
|
rs2149465694
|
|
NM_004370.6(COL12A1):c.1732G>T (p.Asp578Tyr)
|
rs2149465694
|
|
NM_004370.6(COL12A1):c.173C>G (p.Thr58Arg)
|
|
|
NM_004370.6(COL12A1):c.1741C>A (p.Arg581Ser)
|
|
|
NM_004370.6(COL12A1):c.1763C>A (p.Ala588Asp)
|
|
|
NM_004370.6(COL12A1):c.1768C>T (p.Pro590Ser)
|
|
|
NM_004370.6(COL12A1):c.176T>C (p.Val59Ala)
|
rs1770135564
|
|
NM_004370.6(COL12A1):c.1779G>C (p.Glu593Asp)
|
|
|
NM_004370.6(COL12A1):c.1784A>T (p.His595Leu)
|
|
|
NM_004370.6(COL12A1):c.17C>T (p.Pro6Leu)
|
|
|
NM_004370.6(COL12A1):c.1818G>C (p.Gln606His)
|
|
|
NM_004370.6(COL12A1):c.1819A>G (p.Arg607Gly)
|
|
|
NM_004370.6(COL12A1):c.1832A>G (p.Glu611Gly)
|
|
|
NM_004370.6(COL12A1):c.185C>G (p.Thr62Arg)
|
rs779409298
|
|
NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly)
|
rs1356178155
|
|
NM_004370.6(COL12A1):c.1881A>G (p.Ile627Met)
|
rs962496340
|
|
NM_004370.6(COL12A1):c.188C>G (p.Thr63Arg)
|
|
|
NM_004370.6(COL12A1):c.1890A>C (p.Lys630Asn)
|
|
|
NM_004370.6(COL12A1):c.1891+4A>C
|
rs148292262
|
|
NM_004370.6(COL12A1):c.1891+6T>C
|
|
|
NM_004370.6(COL12A1):c.1891G>A (p.Ala631Thr)
|
rs952803259
|
|
NM_004370.6(COL12A1):c.1891G>T (p.Ala631Ser)
|
rs952803259
|
|
NM_004370.6(COL12A1):c.1892-6_1892-5insG
|
rs752652515
|
|
NM_004370.6(COL12A1):c.1897G>A (p.Val633Ile)
|
rs200315815
|
|
NM_004370.6(COL12A1):c.1897G>C (p.Val633Leu)
|
rs200315815
|
|
NM_004370.6(COL12A1):c.1898T>C (p.Val633Ala)
|
|
|
NM_004370.6(COL12A1):c.190G>A (p.Asp64Asn)
|
|
|
NM_004370.6(COL12A1):c.1921del (p.Ser641fs)
|
rs2149462293
|
|
NM_004370.6(COL12A1):c.1925A>C (p.Glu642Ala)
|
rs1769262393
|
|
NM_004370.6(COL12A1):c.1926A>G (p.Glu642=)
|
rs2149462277
|
|
NM_004370.6(COL12A1):c.1945_1946delinsTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCTGGTGCACTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC (p.Lys649delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaLeuValHisCysThrHisTer)
|
|
|
NM_004370.6(COL12A1):c.194G>A (p.Gly65Glu)
|
rs2149479257
|
|
NM_004370.6(COL12A1):c.1952_1966delinsTAA (p.Asn651_Gly656delinsIleArg)
|
|
|
NM_004370.6(COL12A1):c.1967G>C (p.Gly656Ala)
|
rs2149462234
|
|
NM_004370.6(COL12A1):c.1976T>G (p.Val659Gly)
|
|
|
NM_004370.6(COL12A1):c.1984del (p.Tyr662fs)
|
rs1769258754
|
|
NM_004370.6(COL12A1):c.1990A>G (p.Ile664Val)
|
rs1769258112
|
|
NM_004370.6(COL12A1):c.2002G>A (p.Glu668Lys)
|
rs2149462161
|
|
NM_004370.6(COL12A1):c.2008G>T (p.Ala670Ser)
|
rs1769255982
|
|
NM_004370.6(COL12A1):c.2014G>A (p.Asp672Asn)
|
rs1233438359
|
|
NM_004370.6(COL12A1):c.2038C>G (p.Pro680Ala)
|
rs1562290248
|
|
NM_004370.6(COL12A1):c.2044T>A (p.Ser682Thr)
|
rs371321756
|
|
NM_004370.6(COL12A1):c.2045C>T (p.Ser682Leu)
|
|
|
NM_004370.6(COL12A1):c.2057T>C (p.Val686Ala)
|
|
|
NM_004370.6(COL12A1):c.2062C>G (p.Leu688Val)
|
|
|
NM_004370.6(COL12A1):c.2100T>A (p.Asn700Lys)
|
|
|
NM_004370.6(COL12A1):c.2114A>G (p.Tyr705Cys)
|
|
|
NM_004370.6(COL12A1):c.2119G>A (p.Asp707Asn)
|
rs2149461916
|
|
NM_004370.6(COL12A1):c.2120_2123dup (p.Phe709fs)
|
|
|
NM_004370.6(COL12A1):c.2123G>T (p.Gly708Val)
|
rs2149461913
|
|
NM_004370.6(COL12A1):c.212C>T (p.Thr71Ile)
|
|
|
NM_004370.6(COL12A1):c.2131A>G (p.Ile711Val)
|
rs773755693
|
|
NM_004370.6(COL12A1):c.2134C>T (p.Pro712Ser)
|
|
|
NM_004370.6(COL12A1):c.2135C>T (p.Pro712Leu)
|
|
|
NM_004370.6(COL12A1):c.2147A>C (p.Glu716Ala)
|
|
|
NM_004370.6(COL12A1):c.215T>C (p.Leu72Pro)
|
rs1562315490
|
|
NM_004370.6(COL12A1):c.2164+6A>G
|
rs746467248
|
|
NM_004370.6(COL12A1):c.2174C>A (p.Ala725Glu)
|
rs1341300538
|
|
NM_004370.6(COL12A1):c.2189A>C (p.Lys730Thr)
|
rs1769052023
|
|
NM_004370.6(COL12A1):c.2194A>G (p.Thr732Ala)
|
rs1769051365
|
|
NM_004370.6(COL12A1):c.2213G>C (p.Ser738Thr)
|
rs750973541
|
|
NM_004370.6(COL12A1):c.2216T>G (p.Phe739Cys)
|
rs2149457038
|
|
NM_004370.6(COL12A1):c.2233C>T (p.Gln745Ter)
|
rs1554186583
|
|
NM_004370.6(COL12A1):c.2245A>T (p.Arg749Ter)
|
|
|
NM_004370.6(COL12A1):c.2260C>T (p.Arg754Ter)
|
rs1034315777
|
|
NM_004370.6(COL12A1):c.2263A>G (p.Ile755Val)
|
rs1769044982
|
|
NM_004370.6(COL12A1):c.2278G>T (p.Val760Phe)
|
rs2149456891
|
|
NM_004370.6(COL12A1):c.2282C>G (p.Ala761Gly)
|
|
|
NM_004370.6(COL12A1):c.2288G>T (p.Gly763Val)
|
|
|
NM_004370.6(COL12A1):c.2297G>A (p.Arg766Lys)
|
|
|
NM_004370.6(COL12A1):c.2306C>G (p.Thr769Ser)
|
|
|
NM_004370.6(COL12A1):c.2308A>G (p.Thr770Ala)
|
rs2149456824
|
|
NM_004370.6(COL12A1):c.2309C>T (p.Thr770Ile)
|
|
|
NM_004370.6(COL12A1):c.2312C>T (p.Pro771Leu)
|
|
|
NM_004370.6(COL12A1):c.2322GAG[2] (p.Arg777del)
|
|
|
NM_004370.6(COL12A1):c.2327G>A (p.Arg776Lys)
|
|
|
NM_004370.6(COL12A1):c.2333C>T (p.Thr778Ile)
|
|
|
NM_004370.6(COL12A1):c.2341A>G (p.Asn781Asp)
|
rs2149456727
|
|
NM_004370.6(COL12A1):c.2342A>G (p.Asn781Ser)
|
|
|
NM_004370.6(COL12A1):c.2351C>T (p.Pro784Leu)
|
|
|
NM_004370.6(COL12A1):c.2355C>A (p.Asp785Glu)
|
rs2149456708
|
|
NM_004370.6(COL12A1):c.236C>A (p.Thr79Asn)
|
|
|
NM_004370.6(COL12A1):c.2393C>T (p.Ser798Leu)
|
|
|
NM_004370.6(COL12A1):c.2405C>T (p.Thr802Ile)
|
rs1769035606
|
|
NM_004370.6(COL12A1):c.2422G>A (p.Ala808Thr)
|
rs772493333
|
|
NM_004370.6(COL12A1):c.2425G>A (p.Ala809Thr)
|
|
|
NM_004370.6(COL12A1):c.2426C>T (p.Ala809Val)
|
|
|
NM_004370.6(COL12A1):c.2436A>C (p.Glu812Asp)
|
rs1769033719
|
|
NM_004370.6(COL12A1):c.2437+6G>A
|
rs1769033413
|
|
NM_004370.6(COL12A1):c.243G>T (p.Leu81Phe)
|
|
|
NM_004370.6(COL12A1):c.2444G>T (p.Gly815Val)
|
|
|
NM_004370.6(COL12A1):c.2453G>A (p.Arg818Lys)
|
rs371428645
|
|
NM_004370.6(COL12A1):c.2457C>A (p.Asp819Glu)
|
|
|
NM_004370.6(COL12A1):c.2461A>G (p.Arg821Gly)
|
rs1768877676
|
|
NM_004370.6(COL12A1):c.2476A>G (p.Thr826Ala)
|
|
|
NM_004370.6(COL12A1):c.2485A>G (p.Thr829Ala)
|
rs1194621615
|
|
NM_004370.6(COL12A1):c.2488A>G (p.Met830Val)
|
rs1489423171
|
|
NM_004370.6(COL12A1):c.2494T>A (p.Leu832Ile)
|
|
|
NM_004370.6(COL12A1):c.2501G>T (p.Trp834Leu)
|
|
|
NM_004370.6(COL12A1):c.2521G>C (p.Val841Leu)
|
rs2149452205
|
|
NM_004370.6(COL12A1):c.2527C>G (p.Gln843Glu)
|
rs2149452194
|
|
NM_004370.6(COL12A1):c.2528A>T (p.Gln843Leu)
|
rs2149452186
|
|
NM_004370.6(COL12A1):c.2546C>A (p.Thr849Asn)
|
rs559028883
|
|
NM_004370.6(COL12A1):c.2559G>C (p.Gly853=)
|
|
|
NM_004370.6(COL12A1):c.2561del (p.Gly854fs)
|
rs1582179372
|
|
NM_004370.6(COL12A1):c.2591A>T (p.Asp864Val)
|
rs2149452026
|
|
NM_004370.6(COL12A1):c.2594C>G (p.Thr865Arg)
|
|
|
NM_004370.6(COL12A1):c.2605G>T (p.Val869Leu)
|
rs764066205
|
|
NM_004370.6(COL12A1):c.2622G>C (p.Lys874Asn)
|
|
|
NM_004370.6(COL12A1):c.2629A>G (p.Thr877Ala)
|
|
|
NM_004370.6(COL12A1):c.2647G>A (p.Val883Met)
|
|
|
NM_004370.6(COL12A1):c.2656T>A (p.Leu886Met)
|
|
|
NM_004370.6(COL12A1):c.265G>A (p.Glu89Lys)
|
|
|
NM_004370.6(COL12A1):c.2663C>A (p.Ala888Glu)
|
rs777386471
|
|
NM_004370.6(COL12A1):c.2663C>T (p.Ala888Val)
|
rs777386471
|
|
NM_004370.6(COL12A1):c.266A>C (p.Glu89Ala)
|
rs1278211393
|
|
NM_004370.6(COL12A1):c.2680G>T (p.Ala894Ser)
|
|
|
NM_004370.6(COL12A1):c.2683C>G (p.Leu895Val)
|
|
|
NM_004370.6(COL12A1):c.2689G>C (p.Gly897Arg)
|
rs2149451801
|
|
NM_004370.6(COL12A1):c.2690G>T (p.Gly897Val)
|
|
|
NM_004370.6(COL12A1):c.2694A>T (p.Glu898Asp)
|
rs1768851120
|
|
NM_004370.6(COL12A1):c.2711-5T>G
|
|
|
NM_004370.6(COL12A1):c.2714G>C (p.Arg905Pro)
|
rs369193482
|
|
NM_004370.6(COL12A1):c.2720C>T (p.Ser907Phe)
|
|
|
NM_004370.6(COL12A1):c.2722C>T (p.Pro908Ser)
|
|
|
NM_004370.6(COL12A1):c.2729A>T (p.Asp910Val)
|
|
|
NM_004370.6(COL12A1):c.2743G>A (p.Asp915Asn)
|
|
|
NM_004370.6(COL12A1):c.2756C>T (p.Thr919Ile)
|
|
|
NM_004370.6(COL12A1):c.2761A>G (p.Ile921Val)
|
|
|
NM_004370.6(COL12A1):c.2762T>C (p.Ile921Thr)
|
rs1768261723
|
|
NM_004370.6(COL12A1):c.2765G>A (p.Gly922Glu)
|
|
|
NM_004370.6(COL12A1):c.2794G>A (p.Val932Ile)
|
rs1768259480
|
|
NM_004370.6(COL12A1):c.2797C>G (p.Arg933Gly)
|
|
|
NM_004370.6(COL12A1):c.2800G>A (p.Gly934Ser)
|
|
|
NM_004370.6(COL12A1):c.280A>G (p.Ile94Val)
|
|
|
NM_004370.6(COL12A1):c.2820A>C (p.Lys940Asn)
|
|
|
NM_004370.6(COL12A1):c.2825T>C (p.Leu942Pro)
|
rs2149438769
|
|
NM_004370.6(COL12A1):c.2831A>T (p.Asp944Val)
|
|
|
NM_004370.6(COL12A1):c.2833G>A (p.Asp945Asn)
|
|
|
NM_004370.6(COL12A1):c.2851A>G (p.Lys951Glu)
|
rs1253194188
|
|
NM_004370.6(COL12A1):c.2870C>A (p.Ala957Glu)
|
rs1236232001
|
|
NM_004370.6(COL12A1):c.2881A>T (p.Met961Leu)
|
rs370815575
|
|
NM_004370.6(COL12A1):c.2891A>G (p.Asn964Ser)
|
|
|
NM_004370.6(COL12A1):c.2897A>G (p.Gln966Arg)
|
|
|
NM_004370.6(COL12A1):c.290A>G (p.Tyr97Cys)
|
|
|
NM_004370.6(COL12A1):c.2914A>G (p.Arg972Gly)
|
rs1768252416
|
|
NM_004370.6(COL12A1):c.291TGA[1] (p.Asp98del)
|
|
|
NM_004370.6(COL12A1):c.2932A>G (p.Thr978Ala)
|
|
|
NM_004370.6(COL12A1):c.2935T>C (p.Tyr979His)
|
|
|
NM_004370.6(COL12A1):c.2944G>A (p.Gly982Arg)
|
|
|
NM_004370.6(COL12A1):c.2948_2950del (p.Glu983del)
|
rs1768250668
|
|
NM_004370.6(COL12A1):c.2957C>A (p.Pro986His)
|
rs752812483
|
|
NM_004370.6(COL12A1):c.2970T>A (p.Asp990Glu)
|
|
|
NM_004370.6(COL12A1):c.2982A>G (p.Glu994=)
|
rs1768247192
|
|
NM_004370.6(COL12A1):c.2983+1G>T
|
|
|
NM_004370.6(COL12A1):c.2983+2T>G
|
|
|
NM_004370.6(COL12A1):c.2983+3A>C
|
|
|
NM_004370.6(COL12A1):c.2983+3del
|
|
|
NM_004370.6(COL12A1):c.2987C>T (p.Ser996Phe)
|
rs1582147328
|
|
NM_004370.6(COL12A1):c.2989C>A (p.Gln997Lys)
|
rs1767775935
|
|
NM_004370.6(COL12A1):c.2996C>A (p.Ser999Tyr)
|
rs1767775644
|
|
NM_004370.6(COL12A1):c.299T>C (p.Val100Ala)
|
|
|
NM_004370.6(COL12A1):c.29_30delinsAA (p.Ala10Glu)
|
rs1562335715
|
|
NM_004370.6(COL12A1):c.3031A>G (p.Thr1011Ala)
|
rs1767774122
|
|
NM_004370.6(COL12A1):c.3035T>C (p.Met1012Thr)
|
|
|
NM_004370.6(COL12A1):c.3067G>A (p.Val1023Ile)
|
|
|
NM_004370.6(COL12A1):c.3085G>A (p.Val1029Ile)
|
rs1582147115
|
|
NM_004370.6(COL12A1):c.3086T>C (p.Val1029Ala)
|
rs1582147110
|
|
NM_004370.6(COL12A1):c.3089A>G (p.Tyr1030Cys)
|
rs2149424485
|
|
NM_004370.6(COL12A1):c.3091C>A (p.Arg1031Ser)
|
rs575168916
|
|
NM_004370.6(COL12A1):c.3095C>A (p.Pro1032His)
|
|
|
NM_004370.6(COL12A1):c.3100G>A (p.Gly1034Arg)
|
rs2149424441
|
|
NM_004370.6(COL12A1):c.3117G>A (p.Met1039Ile)
|
rs1767764943
|
|
NM_004370.6(COL12A1):c.3122C>G (p.Ala1041Gly)
|
|
|
NM_004370.6(COL12A1):c.3125A>C (p.Lys1042Thr)
|
rs1767764412
|
|
NM_004370.6(COL12A1):c.3127G>T (p.Val1043Leu)
|
|
|
NM_004370.6(COL12A1):c.3128T>C (p.Val1043Ala)
|
|
|
NM_004370.6(COL12A1):c.3128T>G (p.Val1043Gly)
|
rs2149424377
|
|
NM_004370.6(COL12A1):c.3137C>T (p.Thr1046Ile)
|
|
|
NM_004370.6(COL12A1):c.3142A>G (p.Thr1048Ala)
|
|
|
NM_004370.6(COL12A1):c.3143C>T (p.Thr1048Ile)
|
|
|
NM_004370.6(COL12A1):c.3146C>T (p.Ser1049Leu)
|
rs772210650
|
|
NM_004370.6(COL12A1):c.3160C>T (p.Arg1054Ter)
|
rs868543538
|
|
NM_004370.6(COL12A1):c.3185A>T (p.Asp1062Val)
|
|
|
NM_004370.6(COL12A1):c.3188T>C (p.Ile1063Thr)
|
|
|
NM_004370.6(COL12A1):c.3217G>A (p.Glu1073Lys)
|
rs2149424189
|
|
NM_004370.6(COL12A1):c.3233A>G (p.Gln1078Arg)
|
|
|
NM_004370.6(COL12A1):c.3250G>A (p.Ala1084Thr)
|
|
|
NM_004370.6(COL12A1):c.3254C>G (p.Ser1085Cys)
|
|
|
NM_004370.6(COL12A1):c.3256C>T (p.Arg1086Trp)
|
|
|
NM_004370.6(COL12A1):c.3259T>C (p.Phe1087Leu)
|
rs2149423356
|
|
NM_004370.6(COL12A1):c.3260T>G (p.Phe1087Cys)
|
rs1767727217
|
|
NM_004370.6(COL12A1):c.326A>C (p.Gln109Pro)
|
|
|
NM_004370.6(COL12A1):c.3271A>G (p.Arg1091Gly)
|
|
|
NM_004370.6(COL12A1):c.3287C>T (p.Ser1096Phe)
|
rs2149423302
|
|
NM_004370.6(COL12A1):c.3295_3298del (p.Thr1099fs)
|
|
|
NM_004370.6(COL12A1):c.3301T>C (p.Ser1101Pro)
|
|
|
NM_004370.6(COL12A1):c.3305G>A (p.Ser1102Asn)
|
rs2149423269
|
|
NM_004370.6(COL12A1):c.3311G>A (p.Arg1104Gln)
|
rs2149423255
|
|
NM_004370.6(COL12A1):c.3323A>G (p.Glu1108Gly)
|
|
|
NM_004370.6(COL12A1):c.3329C>A (p.Ala1110Asp)
|
rs1767721141
|
|
NM_004370.6(COL12A1):c.332C>A (p.Thr111Lys)
|
|
|
NM_004370.6(COL12A1):c.3331C>G (p.Pro1111Ala)
|
rs1272550670
|
|
NM_004370.6(COL12A1):c.3332C>A (p.Pro1111His)
|
rs2149423214
|
|
NM_004370.6(COL12A1):c.3337G>A (p.Glu1113Lys)
|
|
|
NM_004370.6(COL12A1):c.334+4A>T
|
rs1769967046
|
|
NM_004370.6(COL12A1):c.3340G>A (p.Val1114Met)
|
rs2149423183
|
|
NM_004370.6(COL12A1):c.335-1G>C
|
rs779800232
|
|
NM_004370.6(COL12A1):c.3350A>G (p.Tyr1117Cys)
|
rs1582145759
|
|
NM_004370.6(COL12A1):c.3386G>A (p.Arg1129Lys)
|
|
|
NM_004370.6(COL12A1):c.3396G>C (p.Glu1132Asp)
|
rs1420617553
|
|
NM_004370.6(COL12A1):c.3399A>C (p.Leu1133Phe)
|
|
|
NM_004370.6(COL12A1):c.3407G>A (p.Gly1136Glu)
|
|
|
NM_004370.6(COL12A1):c.3414T>A (p.Tyr1138Ter)
|
|
|
NM_004370.6(COL12A1):c.3422C>T (p.Thr1141Ile)
|
|
|
NM_004370.6(COL12A1):c.3435G>C (p.Glu1145Asp)
|
|
|
NM_004370.6(COL12A1):c.3444-6T>G
|
|
|
NM_004370.6(COL12A1):c.3445G>T (p.Ala1149Ser)
|
|
|
NM_004370.6(COL12A1):c.3467A>T (p.Asn1156Ile)
|
rs759294983
|
|
NM_004370.6(COL12A1):c.3485A>C (p.Asp1162Ala)
|
rs770692332
|
|
NM_004370.6(COL12A1):c.3491G>A (p.Gly1164Glu)
|
|
|
NM_004370.6(COL12A1):c.3493G>A (p.Glu1165Lys)
|
|
|
NM_004370.6(COL12A1):c.3497G>A (p.Ser1166Asn)
|
|
|
NM_004370.6(COL12A1):c.3517G>C (p.Glu1173Gln)
|
rs1767653671
|
|
NM_004370.6(COL12A1):c.3529C>A (p.Leu1177Ile)
|
|
|
NM_004370.6(COL12A1):c.3544G>A (p.Val1182Ile)
|
|
|
NM_004370.6(COL12A1):c.3545T>A (p.Val1182Asp)
|
|
|
NM_004370.6(COL12A1):c.3550C>G (p.Pro1184Ala)
|
|
|
NM_004370.6(COL12A1):c.3562T>C (p.Ser1188Pro)
|
rs1190415160
|
|
NM_004370.6(COL12A1):c.3563C>T (p.Ser1188Phe)
|
|
|
NM_004370.6(COL12A1):c.3565+1G>A
|
|
|
NM_004370.6(COL12A1):c.3566-8C>G
|
rs201709757
|
|
NM_004370.6(COL12A1):c.3590A>G (p.Glu1197Gly)
|
|
|
NM_004370.6(COL12A1):c.3635G>A (p.Arg1212Gln)
|
rs775382202
|
|
NM_004370.6(COL12A1):c.3691A>G (p.Ile1231Val)
|
rs1449618151
|
|
NM_004370.6(COL12A1):c.3694G>C (p.Gly1232Arg)
|
|
|
NM_004370.6(COL12A1):c.3712A>T (p.Ile1238Phe)
|
|
|
NM_004370.6(COL12A1):c.3713T>C (p.Ile1238Thr)
|
rs2149417585
|
|
NM_004370.6(COL12A1):c.3733G>C (p.Gly1245Arg)
|
|
|
NM_004370.6(COL12A1):c.3736G>A (p.Asp1246Asn)
|
rs1582139804
|
|
NM_004370.6(COL12A1):c.373C>A (p.Pro125Thr)
|
|
|
NM_004370.6(COL12A1):c.3764C>T (p.Ala1255Val)
|
|
|
NM_004370.6(COL12A1):c.3766C>A (p.His1256Asn)
|
|
|
NM_004370.6(COL12A1):c.3766C>G (p.His1256Asp)
|
|
|
NM_004370.6(COL12A1):c.3774C>A (p.Asp1258Glu)
|
rs375043994
|
|
NM_004370.6(COL12A1):c.3774C>G (p.Asp1258Glu)
|
rs375043994
|
|
NM_004370.6(COL12A1):c.3776A>G (p.Lys1259Arg)
|
|
|
NM_004370.6(COL12A1):c.3800C>T (p.Ala1267Val)
|
|
|
NM_004370.6(COL12A1):c.3802A>G (p.Asn1268Asp)
|
|
|
NM_004370.6(COL12A1):c.3809C>T (p.Pro1270Leu)
|
|
|
NM_004370.6(COL12A1):c.3812A>G (p.Tyr1271Cys)
|
|
|
NM_004370.6(COL12A1):c.3814A>G (p.Lys1272Glu)
|
rs1562233846
|
|
NM_004370.6(COL12A1):c.3827C>T (p.Thr1276Ile)
|
|
|
NM_004370.6(COL12A1):c.3829C>T (p.Leu1277Phe)
|
|
|
NM_004370.6(COL12A1):c.3835+3_3835+6del
|
|
|
NM_004370.6(COL12A1):c.3862C>A (p.Gln1288Lys)
|
|
|
NM_004370.6(COL12A1):c.3869T>G (p.Phe1290Cys)
|
rs1387157172
|
|
NM_004370.6(COL12A1):c.3874A>G (p.Thr1292Ala)
|
|
|
NM_004370.6(COL12A1):c.3877C>G (p.Gln1293Glu)
|
rs1489541121
|
|
NM_004370.6(COL12A1):c.3881C>G (p.Ala1294Gly)
|
rs1231394496
|
|
NM_004370.6(COL12A1):c.3884G>A (p.Gly1295Asp)
|
|
|
NM_004370.6(COL12A1):c.3892C>A (p.Pro1298Thr)
|
rs376766442
|
|
NM_004370.6(COL12A1):c.3892C>T (p.Pro1298Ser)
|
|
|
NM_004370.6(COL12A1):c.389T>C (p.Ile130Thr)
|
rs1769938135
|
|
NM_004370.6(COL12A1):c.38G>T (p.Gly13Val)
|
|
|
NM_004370.6(COL12A1):c.3916C>G (p.Leu1306Val)
|
|
|
NM_004370.6(COL12A1):c.391C>T (p.Gln131Ter)
|
|
|
NM_004370.6(COL12A1):c.3928G>C (p.Gly1310Arg)
|
rs1260669878
|
|
NM_004370.6(COL12A1):c.393A>C (p.Gln131His)
|
rs1769937627
|
|
NM_004370.6(COL12A1):c.394+1G>A
|
|
|
NM_004370.6(COL12A1):c.394+3G>A
|
|
|
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu)
|
rs570245614
|
|
NM_004370.6(COL12A1):c.3943G>T (p.Asp1315Tyr)
|
|
|
NM_004370.6(COL12A1):c.3946G>A (p.Val1316Ile)
|
|
|
NM_004370.6(COL12A1):c.398G>A (p.Cys133Tyr)
|
|
|
NM_004370.6(COL12A1):c.3997A>G (p.Ile1333Val)
|
rs557573017
|
|
NM_004370.6(COL12A1):c.4000+4C>T
|
rs375772555
|
|
NM_004370.6(COL12A1):c.4001-11C>A
|
|
|
NM_004370.6(COL12A1):c.4001G>T (p.Gly1334Val)
|
|
|
NM_004370.6(COL12A1):c.4003A>T (p.Ile1335Phe)
|
rs1554182853
|
|
NM_004370.6(COL12A1):c.4013C>T (p.Ala1338Val)
|
|
|
NM_004370.6(COL12A1):c.4035G>A (p.Met1345Ile)
|
|
|
NM_004370.6(COL12A1):c.4036A>G (p.Ile1346Val)
|
rs2149415452
|
|
NM_004370.6(COL12A1):c.4040C>T (p.Ala1347Val)
|
|
|
NM_004370.6(COL12A1):c.4042A>G (p.Thr1348Ala)
|
rs1335085130
|
|
NM_004370.6(COL12A1):c.4047T>A (p.Asp1349Glu)
|
|
|
NM_004370.6(COL12A1):c.4048C>T (p.Pro1350Ser)
|
|
|
NM_004370.6(COL12A1):c.4049C>A (p.Pro1350His)
|
|
|
NM_004370.6(COL12A1):c.4049C>T (p.Pro1350Leu)
|
|
|
NM_004370.6(COL12A1):c.4051G>A (p.Asp1351Asn)
|
rs1767469659
|
|
NM_004370.6(COL12A1):c.4058C>A (p.Thr1353Asn)
|
rs913180274
|
|
NM_004370.6(COL12A1):c.4058C>G (p.Thr1353Ser)
|
rs913180274
|
|
NM_004370.6(COL12A1):c.4070A>G (p.Asn1357Ser)
|
rs1562230954
|
|
NM_004370.6(COL12A1):c.4096A>T (p.Arg1366Trp)
|
|
|
NM_004370.6(COL12A1):c.4101A>G (p.Ile1367Met)
|
rs745813975
|
|
NM_004370.6(COL12A1):c.4106A>G (p.Asp1369Gly)
|
rs2149415249
|
|
NM_004370.6(COL12A1):c.4115C>T (p.Thr1372Ile)
|
rs2149415231
|
|
NM_004370.6(COL12A1):c.4117A>G (p.Ile1373Val)
|
rs2149415217
|
|
NM_004370.6(COL12A1):c.4118T>G (p.Ile1373Ser)
|
rs1268978531
|
|
NM_004370.6(COL12A1):c.4132A>T (p.Ser1378Cys)
|
rs1405840866
|
|
NM_004370.6(COL12A1):c.4133G>A (p.Ser1378Asn)
|
rs1033092764
|
|
NM_004370.6(COL12A1):c.4147+3A>G
|
|
|
NM_004370.6(COL12A1):c.4147+4A>T
|
|
|
NM_004370.6(COL12A1):c.4159G>A (p.Ala1387Thr)
|
rs2149410743
|
|
NM_004370.6(COL12A1):c.4165_4167del (p.Ser1389del)
|
rs1767315080
|
|
NM_004370.6(COL12A1):c.4177A>G (p.Ile1393Val)
|
rs1582133150
|
|
NM_004370.6(COL12A1):c.4190C>G (p.Thr1397Ser)
|
rs1767312990
|
|
NM_004370.6(COL12A1):c.4241G>C (p.Arg1414Pro)
|
|
|
NM_004370.6(COL12A1):c.424G>C (p.Val142Leu)
|
|
|
NM_004370.6(COL12A1):c.4254A>T (p.Glu1418Asp)
|
|
|
NM_004370.6(COL12A1):c.4255T>G (p.Tyr1419Asp)
|
rs758640189
|
|
NM_004370.6(COL12A1):c.425T>C (p.Val142Ala)
|
|
|
NM_004370.6(COL12A1):c.4261C>A (p.Pro1421Thr)
|
|
|
NM_004370.6(COL12A1):c.4271G>A (p.Gly1424Glu)
|
|
|
NM_004370.6(COL12A1):c.4279C>A (p.Arg1427Ser)
|
rs779038394
|
|
NM_004370.6(COL12A1):c.4287+4A>T
|
rs1767305838
|
|
NM_004370.6(COL12A1):c.4288-14A>G
|
|
|
NM_004370.6(COL12A1):c.4297A>G (p.Ser1433Gly)
|
|
|
NM_004370.6(COL12A1):c.4301G>A (p.Arg1434Gln)
|
rs779064060
|
|
NM_004370.6(COL12A1):c.4301G>T (p.Arg1434Leu)
|
rs779064060
|
|
NM_004370.6(COL12A1):c.4313G>A (p.Ser1438Asn)
|
rs889393418
|
|
NM_004370.6(COL12A1):c.4316C>T (p.Thr1439Ile)
|
|
|
NM_004370.6(COL12A1):c.4319T>A (p.Val1440Glu)
|
rs1767273965
|
|
NM_004370.6(COL12A1):c.4319T>C (p.Val1440Ala)
|
|
|
NM_004370.6(COL12A1):c.4337C>A (p.Pro1446His)
|
|
|
NM_004370.6(COL12A1):c.4355T>C (p.Val1452Ala)
|
|
|
NM_004370.6(COL12A1):c.4364A>G (p.Tyr1455Cys)
|
rs1582131685
|
|
NM_004370.6(COL12A1):c.436G>T (p.Asp146Tyr)
|
rs1394611159
|
|
NM_004370.6(COL12A1):c.4387A>T (p.Ser1463Cys)
|
rs897954123
|
|
NM_004370.6(COL12A1):c.4394C>T (p.Pro1465Leu)
|
|
|
NM_004370.6(COL12A1):c.4417+4A>G
|
rs2149409130
|
|
NM_004370.6(COL12A1):c.4417+5G>A
|
|
|
NM_004370.6(COL12A1):c.4419G>T (p.Leu1473Phe)
|
|
|
NM_004370.6(COL12A1):c.4429G>A (p.Val1477Ile)
|
rs1767188215
|
|
NM_004370.6(COL12A1):c.4432G>A (p.Val1478Ile)
|
rs1246887485
|
|
NM_004370.6(COL12A1):c.4434C>T (p.Val1478=)
|
|
|
NM_004370.6(COL12A1):c.4447T>C (p.Tyr1483His)
|
|
|
NM_004370.6(COL12A1):c.4463C>G (p.Thr1488Ser)
|
|
|
NM_004370.6(COL12A1):c.4493G>A (p.Gly1498Glu)
|
|
|
NM_004370.6(COL12A1):c.4499C>T (p.Ala1500Val)
|
|
|
NM_004370.6(COL12A1):c.4502C>T (p.Thr1501Ile)
|
|
|
NM_004370.6(COL12A1):c.4505G>A (p.Gly1502Asp)
|
|
|
NM_004370.6(COL12A1):c.4506C>G (p.Gly1502=)
|
rs199901074
|
|
NM_004370.6(COL12A1):c.4510A>G (p.Ile1504Val)
|
rs1582129070
|
|
NM_004370.6(COL12A1):c.4514T>C (p.Leu1505Ser)
|
|
|
NM_004370.6(COL12A1):c.4520A>G (p.Tyr1507Cys)
|
rs1767180643
|
|
NM_004370.6(COL12A1):c.4528G>A (p.Val1510Ile)
|
|
|
NM_004370.6(COL12A1):c.4546A>G (p.Thr1516Ala)
|
|
|
NM_004370.6(COL12A1):c.4560+8A>G
|
|
|
NM_004370.6(COL12A1):c.4571G>A (p.Gly1524Glu)
|
rs556742432
|
|
NM_004370.6(COL12A1):c.4574C>T (p.Pro1525Leu)
|
|
|
NM_004370.6(COL12A1):c.4579G>A (p.Val1527Met)
|
rs1326246352
|
|
NM_004370.6(COL12A1):c.457A>G (p.Arg153Gly)
|
rs2149475927
|
|
NM_004370.6(COL12A1):c.4588A>T (p.Met1530Leu)
|
rs1226808307
|
|
NM_004370.6(COL12A1):c.4589T>A (p.Met1530Lys)
|
rs1767128506
|
|
NM_004370.6(COL12A1):c.4589T>C (p.Met1530Thr)
|
rs1767128506
|
|
NM_004370.6(COL12A1):c.4590G>A (p.Met1530Ile)
|
|
|
NM_004370.6(COL12A1):c.4597A>G (p.Thr1533Ala)
|
|
|
NM_004370.6(COL12A1):c.4600G>A (p.Asp1534Asn)
|
|
|
NM_004370.6(COL12A1):c.4609C>T (p.Pro1537Ser)
|
rs1028650601
|
|
NM_004370.6(COL12A1):c.4612A>G (p.Asn1538Asp)
|
|
|
NM_004370.6(COL12A1):c.4613A>T (p.Asn1538Ile)
|
|
|
NM_004370.6(COL12A1):c.4620G>T (p.Glu1540Asp)
|
rs367865394
|
|
NM_004370.6(COL12A1):c.4645C>G (p.Leu1549Val)
|
|
|
NM_004370.6(COL12A1):c.466T>G (p.Phe156Val)
|
|
|
NM_004370.6(COL12A1):c.4676T>C (p.Val1559Ala)
|
rs1562217199
|
|
NM_004370.6(COL12A1):c.4681G>A (p.Glu1561Lys)
|
|
|
NM_004370.6(COL12A1):c.4689C>T (p.Thr1563=)
|
rs1767120492
|
|
NM_004370.6(COL12A1):c.4690+5G>A
|
rs1767120188
|
|
NM_004370.6(COL12A1):c.4691-8T>A
|
|
|
NM_004370.6(COL12A1):c.4691T>C (p.Leu1564Ser)
|
rs1554181762
|
|
NM_004370.6(COL12A1):c.4693C>T (p.Pro1565Ser)
|
|
|
NM_004370.6(COL12A1):c.4697T>C (p.Leu1566Ser)
|
rs2149402848
|
|
NM_004370.6(COL12A1):c.4702A>G (p.Arg1568Gly)
|
rs1767009455
|
|
NM_004370.6(COL12A1):c.4705C>T (p.Pro1569Ser)
|
|
|
NM_004370.6(COL12A1):c.4714C>A (p.Leu1572Met)
|
|
|
NM_004370.6(COL12A1):c.4723A>G (p.Arg1575Gly)
|
rs1490798316
|
|
NM_004370.6(COL12A1):c.4724G>A (p.Arg1575Lys)
|
|
|
NM_004370.6(COL12A1):c.475A>G (p.Ile159Val)
|
rs548978005
|
|
NM_004370.6(COL12A1):c.4780C>T (p.Arg1594Cys)
|
|
|
NM_004370.6(COL12A1):c.4781G>C (p.Arg1594Pro)
|
rs373006852
|
|
NM_004370.6(COL12A1):c.4795C>G (p.Arg1599Gly)
|
|
|
NM_004370.6(COL12A1):c.4810G>A (p.Glu1604Lys)
|
|
|
NM_004370.6(COL12A1):c.4827+3A>G
|
|
|
NM_004370.6(COL12A1):c.4839C>A (p.Asp1613Glu)
|
|
|
NM_004370.6(COL12A1):c.4849A>C (p.Thr1617Pro)
|
rs750511139
|
|
NM_004370.6(COL12A1):c.4853G>T (p.Ser1618Ile)
|
rs765702033
|
|
NM_004370.6(COL12A1):c.4859C>T (p.Ser1620Phe)
|
|
|
NM_004370.6(COL12A1):c.4868A>G (p.Asp1623Gly)
|
|
|
NM_004370.6(COL12A1):c.4883C>T (p.Thr1628Ile)
|
rs368180489
|
|
NM_004370.6(COL12A1):c.4888T>C (p.Tyr1630His)
|
rs759038011
|
|
NM_004370.6(COL12A1):c.488T>C (p.Ile163Thr)
|
|
|
NM_004370.6(COL12A1):c.4891A>T (p.Thr1631Ser)
|
rs773883741
|
|
NM_004370.6(COL12A1):c.4913A>C (p.His1638Pro)
|
|
|
NM_004370.6(COL12A1):c.4918G>C (p.Glu1640Gln)
|
|
|
NM_004370.6(COL12A1):c.4930C>T (p.Pro1644Ser)
|
|
|
NM_004370.6(COL12A1):c.4954_4957+2dup
|
|
|
NM_004370.6(COL12A1):c.4956C>G (p.Thr1652=)
|
|
|
NM_004370.6(COL12A1):c.4957+11_4957+12inv
|
|
|
NM_004370.6(COL12A1):c.4963G>T (p.Val1655Leu)
|
|
|
NM_004370.6(COL12A1):c.4970C>A (p.Ala1657Asp)
|
rs1766760179
|
|
NM_004370.6(COL12A1):c.4970C>T (p.Ala1657Val)
|
|
|
NM_004370.6(COL12A1):c.4978A>C (p.Asn1660His)
|
|
|
NM_004370.6(COL12A1):c.4979A>T (p.Asn1660Ile)
|
|
|
NM_004370.6(COL12A1):c.4995A>C (p.Glu1665Asp)
|
rs1582115930
|
|
NM_004370.6(COL12A1):c.5011T>C (p.Phe1671Leu)
|
rs1766757762
|
|
NM_004370.6(COL12A1):c.502T>G (p.Ser168Ala)
|
rs2149475862
|
|
NM_004370.6(COL12A1):c.5035G>T (p.Ala1679Ser)
|
rs550455854
|
|
NM_004370.6(COL12A1):c.5045T>C (p.Val1682Ala)
|
|
|
NM_004370.6(COL12A1):c.5071C>A (p.Pro1691Thr)
|
|
|
NM_004370.6(COL12A1):c.5083T>A (p.Ser1695Thr)
|
|
|
NM_004370.6(COL12A1):c.5093T>C (p.Met1698Thr)
|
rs749443694
|
|
NM_004370.6(COL12A1):c.5095G>A (p.Glu1699Lys)
|
rs1369964113
|
|
NM_004370.6(COL12A1):c.5097+6T>A
|
|
|
NM_004370.6(COL12A1):c.5111G>A (p.Gly1704Glu)
|
|
|
NM_004370.6(COL12A1):c.5115T>G (p.Asp1705Glu)
|
|
|
NM_004370.6(COL12A1):c.512A>T (p.Asp171Val)
|
rs2149475842
|
|
NM_004370.6(COL12A1):c.5158T>A (p.Tyr1720Asn)
|
rs1766737229
|
|
NM_004370.6(COL12A1):c.5167T>C (p.Ser1723Pro)
|
|
|
NM_004370.6(COL12A1):c.5173A>G (p.Thr1725Ala)
|
|
|
NM_004370.6(COL12A1):c.5180T>C (p.Ile1727Thr)
|
|
|
NM_004370.6(COL12A1):c.5194T>G (p.Ser1732Ala)
|
rs750726658
|
|
NM_004370.6(COL12A1):c.5215G>A (p.Gly1739Ser)
|
|
|
NM_004370.6(COL12A1):c.5224C>A (p.Arg1742Ser)
|
rs530680231
|
|
NM_004370.6(COL12A1):c.5230C>A (p.Leu1744Met)
|
|
|
NM_004370.6(COL12A1):c.5231-9_5231-8del
|
|
|
NM_004370.6(COL12A1):c.5270G>A (p.Arg1757Gln)
|
|
|
NM_004370.6(COL12A1):c.527A>G (p.Lys176Arg)
|
|
|
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser)
|
rs755536829
|
|
NM_004370.6(COL12A1):c.5297C>T (p.Ser1766Phe)
|
|
|
NM_004370.6(COL12A1):c.529A>G (p.Thr177Ala)
|
|
|
NM_004370.6(COL12A1):c.5323C>A (p.Pro1775Thr)
|
rs2149394273
|
|
NM_004370.6(COL12A1):c.5336G>C (p.Arg1779Pro)
|
rs748487098
|
|
NM_004370.6(COL12A1):c.5338G>A (p.Val1780Met)
|
rs1766678485
|
|
NM_004370.6(COL12A1):c.5342A>G (p.Gln1781Arg)
|
|
|
NM_004370.6(COL12A1):c.5359T>C (p.Tyr1787His)
|
|
|
NM_004370.6(COL12A1):c.535G>A (p.Val179Ile)
|
|
|
NM_004370.6(COL12A1):c.5366C>T (p.Pro1789Leu)
|
rs1766675850
|
|
NM_004370.6(COL12A1):c.5374G>A (p.Gly1792Arg)
|
|
|
NM_004370.6(COL12A1):c.5380G>A (p.Gly1794Ser)
|
rs2149394149
|
|
NM_004370.6(COL12A1):c.5384A>G (p.Asn1795Ser)
|
|
|
NM_004370.6(COL12A1):c.5392A>T (p.Thr1798Ser)
|
|
|
NM_004370.6(COL12A1):c.5393C>A (p.Thr1798Lys)
|
rs370767331
|
|
NM_004370.6(COL12A1):c.5394+5T>G
|
|
|
NM_004370.6(COL12A1):c.5394G>A (p.Thr1798=)
|
|
|
NM_004370.6(COL12A1):c.5395-10T>C
|
|
|
NM_004370.6(COL12A1):c.5395-14C>G
|
|
|
NM_004370.6(COL12A1):c.5395-17G>A
|
|
|
NM_004370.6(COL12A1):c.5398A>G (p.Thr1800Ala)
|
|
|
NM_004370.6(COL12A1):c.5403A>G (p.Ile1801Met)
|
|
|
NM_004370.6(COL12A1):c.5408G>A (p.Gly1803Glu)
|
rs754812998
|
|
NM_004370.6(COL12A1):c.5443C>T (p.Pro1815Ser)
|
|
|
NM_004370.6(COL12A1):c.5447A>T (p.Asp1816Val)
|
|
|
NM_004370.6(COL12A1):c.544G>A (p.Val182Ile)
|
rs1769824140
|
|
NM_004370.6(COL12A1):c.5452C>A (p.Pro1818Thr)
|
|
|
NM_004370.6(COL12A1):c.5458A>C (p.Thr1820Pro)
|
|
|
NM_004370.6(COL12A1):c.5461A>G (p.Ile1821Val)
|
|
|
NM_004370.6(COL12A1):c.5467G>T (p.Val1823Leu)
|
|
|
NM_004370.6(COL12A1):c.5486A>G (p.Asp1829Gly)
|
rs1419443025
|
|
NM_004370.6(COL12A1):c.5500C>G (p.Arg1834Gly)
|
rs775456254
|
|
NM_004370.6(COL12A1):c.5504T>A (p.Met1835Lys)
|
rs374927144
|
|
NM_004370.6(COL12A1):c.5514_5516dup (p.Gly1839dup)
|
rs1766496347
|
|
NM_004370.6(COL12A1):c.5516G>T (p.Gly1839Val)
|
rs2149389596
|
|
NM_004370.6(COL12A1):c.5519A>C (p.Lys1840Thr)
|
|
|
NM_004370.6(COL12A1):c.5521A>C (p.Thr1841Pro)
|
|
|
NM_004370.6(COL12A1):c.5523C>A (p.Thr1841=)
|
|
|
NM_004370.6(COL12A1):c.5525-6T>A
|
|
|
NM_004370.6(COL12A1):c.553A>T (p.Ser185Cys)
|
rs1769823295
|
|
NM_004370.6(COL12A1):c.5547C>A (p.Asn1849Lys)
|
rs1235141094
|
|
NM_004370.6(COL12A1):c.554G>A (p.Ser185Asn)
|
rs2149475753
|
|
NM_004370.6(COL12A1):c.5554G>C (p.Val1852Leu)
|
|
|
NM_004370.6(COL12A1):c.5562C>A (p.Asp1854Glu)
|
rs543663005
|
|
NM_004370.6(COL12A1):c.5572A>T (p.Ser1858Cys)
|
|
|
NM_004370.6(COL12A1):c.5574C>A (p.Ser1858Arg)
|
|
|
NM_004370.6(COL12A1):c.5582A>G (p.Asn1861Ser)
|
rs1160822324
|
|
NM_004370.6(COL12A1):c.5583T>A (p.Asn1861Lys)
|
|
|
NM_004370.6(COL12A1):c.5588G>A (p.Arg1863His)
|
|
|
NM_004370.6(COL12A1):c.5588G>T (p.Arg1863Leu)
|
rs377417661
|
|
NM_004370.6(COL12A1):c.5603A>T (p.Glu1868Val)
|
rs1370422060
|
|
NM_004370.6(COL12A1):c.5614C>G (p.Arg1872Gly)
|
rs773807635
|
|
NM_004370.6(COL12A1):c.5632T>C (p.Tyr1878His)
|
|
|
NM_004370.6(COL12A1):c.5647G>T (p.Gly1883Cys)
|
|
|
NM_004370.6(COL12A1):c.5656G>C (p.Glu1886Gln)
|
rs1242897212
|
|
NM_004370.6(COL12A1):c.5659G>A (p.Glu1887Lys)
|
rs1766437313
|
|
NM_004370.6(COL12A1):c.5664+3A>G
|
rs2149387981
|
|
NM_004370.6(COL12A1):c.5672T>C (p.Ile1891Thr)
|
|
|
NM_004370.6(COL12A1):c.5677G>C (p.Gly1893Arg)
|
|
|
NM_004370.6(COL12A1):c.5681A>G (p.Asn1894Ser)
|
rs2149387327
|
|
NM_004370.6(COL12A1):c.5692G>A (p.Ala1898Thr)
|
rs2149387306
|
|
NM_004370.6(COL12A1):c.5713C>T (p.Pro1905Ser)
|
rs1766408982
|
|
NM_004370.6(COL12A1):c.5723C>T (p.Ser1908Leu)
|
|
|
NM_004370.6(COL12A1):c.5752A>G (p.Thr1918Ala)
|
rs1766405494
|
|
NM_004370.6(COL12A1):c.5756A>T (p.Glu1919Val)
|
rs2149387143
|
|
NM_004370.6(COL12A1):c.5761G>A (p.Asp1921Asn)
|
rs1766404958
|
|
NM_004370.6(COL12A1):c.5768G>C (p.Gly1923Ala)
|
|
|
NM_004370.6(COL12A1):c.5790G>C (p.Arg1930Ser)
|
rs2149387040
|
|
NM_004370.6(COL12A1):c.5793A>C (p.Thr1931=)
|
rs199632288
|
|
NM_004370.6(COL12A1):c.5794T>C (p.Leu1932=)
|
|
|
NM_004370.6(COL12A1):c.5800A>G (p.Arg1934Gly)
|
rs1474687066
|
|
NM_004370.6(COL12A1):c.5809G>A (p.Ala1937Thr)
|
rs1562184031
|
|
NM_004370.6(COL12A1):c.5827T>C (p.Tyr1943His)
|
|
|
NM_004370.6(COL12A1):c.5837C>T (p.Thr1946Ile)
|
rs2149385416
|
|
NM_004370.6(COL12A1):c.5846G>A (p.Ser1949Asn)
|
|
|
NM_004370.6(COL12A1):c.5855T>G (p.Val1952Gly)
|
rs1766324604
|
|
NM_004370.6(COL12A1):c.5858G>T (p.Arg1953Leu)
|
|
|
NM_004370.6(COL12A1):c.5863G>A (p.Asp1955Asn)
|
rs2149385355
|
|
NM_004370.6(COL12A1):c.5863G>T (p.Asp1955Tyr)
|
rs2149385355
|
|
NM_004370.6(COL12A1):c.5865C>G (p.Asp1955Glu)
|
|
|
NM_004370.6(COL12A1):c.5869G>A (p.Ala1957Thr)
|
|
|
NM_004370.6(COL12A1):c.5881G>A (p.Val1961Met)
|
rs536233725
|
|
NM_004370.6(COL12A1):c.5885T>C (p.Leu1962Pro)
|
|
|
NM_004370.6(COL12A1):c.588G>T (p.Gln196His)
|
|
|
NM_004370.6(COL12A1):c.5891A>G (p.Tyr1964Cys)
|
rs920578725
|
|
NM_004370.6(COL12A1):c.5893C>A (p.Arg1965Ser)
|
rs200487396
|
|
NM_004370.6(COL12A1):c.5900T>A (p.Val1967Glu)
|
|
|
NM_004370.6(COL12A1):c.5903A>G (p.Tyr1968Cys)
|
|
|
NM_004370.6(COL12A1):c.5905T>C (p.Ser1969Pro)
|
rs2149385256
|
|
NM_004370.6(COL12A1):c.5912T>C (p.Val1971Ala)
|
|
|
NM_004370.6(COL12A1):c.5934A>T (p.Glu1978Asp)
|
|
|
NM_004370.6(COL12A1):c.5939T>A (p.Ile1980Lys)
|
|
|
NM_004370.6(COL12A1):c.5940AGT[1] (p.Val1982del)
|
rs1766274789
|
|
NM_004370.6(COL12A1):c.5953A>G (p.Asn1985Asp)
|
|
|
NM_004370.6(COL12A1):c.5965G>A (p.Val1989Met)
|
|
|
NM_004370.6(COL12A1):c.598A>G (p.Arg200Gly)
|
|
|
NM_004370.6(COL12A1):c.5992A>G (p.Thr1998Ala)
|
|
|
NM_004370.6(COL12A1):c.5999A>G (p.Tyr2000Cys)
|
rs1400789071
|
|
NM_004370.6(COL12A1):c.5G>C (p.Arg2Pro)
|
|
|
NM_004370.6(COL12A1):c.6002C>G (p.Ser2001Cys)
|
rs1766270191
|
|
NM_004370.6(COL12A1):c.6010C>T (p.Leu2004Phe)
|
|
|
NM_004370.6(COL12A1):c.602A>G (p.Asp201Gly)
|
|
|
NM_004370.6(COL12A1):c.602A>T (p.Asp201Val)
|
|
|
NM_004370.6(COL12A1):c.6030T>G (p.Asp2010Glu)
|
rs1013402934
|
|
NM_004370.6(COL12A1):c.6064A>T (p.Thr2022Ser)
|
rs780638272
|
|
NM_004370.6(COL12A1):c.6065C>T (p.Thr2022Met)
|
rs1766265495
|
|
NM_004370.6(COL12A1):c.6074G>T (p.Arg2025Leu)
|
|
|
NM_004370.6(COL12A1):c.6108A>C (p.Glu2036Asp)
|
|
|
NM_004370.6(COL12A1):c.6124T>A (p.Ser2042Thr)
|
|
|
NM_004370.6(COL12A1):c.6128T>C (p.Val2043Ala)
|
|
|
NM_004370.6(COL12A1):c.6140A>G (p.His2047Arg)
|
rs569212577
|
|
NM_004370.6(COL12A1):c.6147T>G (p.Asp2049Glu)
|
rs200777154
|
|
NM_004370.6(COL12A1):c.614C>T (p.Ala205Val)
|
|
|
NM_004370.6(COL12A1):c.6188T>C (p.Val2063Ala)
|
|
|
NM_004370.6(COL12A1):c.6196C>A (p.Pro2066Thr)
|
rs1766227819
|
|
NM_004370.6(COL12A1):c.6221C>G (p.Pro2074Arg)
|
|
|
NM_004370.6(COL12A1):c.6223G>A (p.Gly2075Ser)
|
rs1253942397
|
|
NM_004370.6(COL12A1):c.6230G>A (p.Arg2077Lys)
|
rs769518059
|
|
NM_004370.6(COL12A1):c.6231A>C (p.Arg2077Ser)
|
|
|
NM_004370.6(COL12A1):c.623A>G (p.Lys208Arg)
|
rs2149475605
|
|
NM_004370.6(COL12A1):c.6243A>G (p.Ile2081Met)
|
rs1766123299
|
|
NM_004370.6(COL12A1):c.6254T>C (p.Leu2085Pro)
|
|
|
NM_004370.6(COL12A1):c.6266C>T (p.Thr2089Ile)
|
|
|
NM_004370.6(COL12A1):c.6276A>C (p.Lys2092Asn)
|
rs1403624483
|
|
NM_004370.6(COL12A1):c.629T>C (p.Ile210Thr)
|
|
|
NM_004370.6(COL12A1):c.6325G>A (p.Gly2109Arg)
|
rs1766116749
|
|
NM_004370.6(COL12A1):c.6330T>G (p.Asn2110Lys)
|
|
|
NM_004370.6(COL12A1):c.6338C>T (p.Thr2113Ile)
|
|
|
NM_004370.6(COL12A1):c.6339T>C (p.Thr2113=)
|
rs1766115548
|
|
NM_004370.6(COL12A1):c.6341-9T>A
|
rs1562169801
|
|
NM_004370.6(COL12A1):c.6343G>A (p.Gly2115Arg)
|
rs1766019017
|
|
NM_004370.6(COL12A1):c.637A>G (p.Lys213Glu)
|
rs1769818108
|
|
NM_004370.6(COL12A1):c.6386A>G (p.Tyr2129Cys)
|
rs1402262599
|
|
NM_004370.6(COL12A1):c.6389C>G (p.Thr2130Arg)
|
|
|
NM_004370.6(COL12A1):c.6409G>C (p.Asp2137His)
|
|
|
NM_004370.6(COL12A1):c.641G>T (p.Gly214Val)
|
rs1582209053
|
|
NM_004370.6(COL12A1):c.6424C>A (p.Pro2142Thr)
|
rs1766015017
|
|
NM_004370.6(COL12A1):c.6445G>T (p.Val2149Leu)
|
rs1277921609
|
|
NM_004370.6(COL12A1):c.6449A>G (p.Tyr2150Cys)
|
rs1469571574
|
|
NM_004370.6(COL12A1):c.644G>A (p.Gly215Asp)
|
|
|
NM_004370.6(COL12A1):c.6458T>C (p.Val2153Ala)
|
|
|
NM_004370.6(COL12A1):c.6460+6G>A
|
|
|
NM_004370.6(COL12A1):c.6463T>A (p.Ser2155Thr)
|
|
|
NM_004370.6(COL12A1):c.6467A>G (p.Asn2156Ser)
|
rs1582089703
|
|
NM_004370.6(COL12A1):c.6475A>T (p.Met2159Leu)
|
rs1582089675
|
|
NM_004370.6(COL12A1):c.6476T>C (p.Met2159Thr)
|
rs920759306
|
|
NM_004370.6(COL12A1):c.647A>G (p.Asn216Ser)
|
rs2149475535
|
|
NM_004370.6(COL12A1):c.6494A>G (p.Glu2165Gly)
|
|
|
NM_004370.6(COL12A1):c.6500C>A (p.Thr2167Lys)
|
rs2149375589
|
|
NM_004370.6(COL12A1):c.6518A>G (p.Asn2173Ser)
|
|
|
NM_004370.6(COL12A1):c.652A>G (p.Met218Val)
|
rs2149475531
|
|
NM_004370.6(COL12A1):c.653T>G (p.Met218Arg)
|
rs756215547
|
|
NM_004370.6(COL12A1):c.6541G>T (p.Asp2181Tyr)
|
|
|
NM_004370.6(COL12A1):c.6550G>A (p.Val2184Ile)
|
|
|
NM_004370.6(COL12A1):c.6559C>A (p.Gln2187Lys)
|
|
|
NM_004370.6(COL12A1):c.6574C>T (p.Leu2192Phe)
|
rs1765951451
|
|
NM_004370.6(COL12A1):c.658+6T>C
|
|
|
NM_004370.6(COL12A1):c.6584C>G (p.Pro2195Arg)
|
|
|
NM_004370.6(COL12A1):c.6611A>G (p.Tyr2204Cys)
|
|
|
NM_004370.6(COL12A1):c.6635C>T (p.Thr2212Ile)
|
|
|
NM_004370.6(COL12A1):c.6640C>G (p.Gln2214Glu)
|
rs773548520
|
|
NM_004370.6(COL12A1):c.6642G>C (p.Gln2214His)
|
|
|
NM_004370.6(COL12A1):c.6647G>A (p.Gly2216Glu)
|
rs761964344
|
|
NM_004370.6(COL12A1):c.6660C>G (p.Phe2220Leu)
|
rs1562164671
|
|
NM_004370.6(COL12A1):c.6662G>C (p.Cys2221Ser)
|
rs2149374223
|
|
NM_004370.6(COL12A1):c.6682C>T (p.Arg2228Trp)
|
rs759202641
|
|
NM_004370.6(COL12A1):c.6683G>A (p.Arg2228Gln)
|
rs1253362145
|
|
NM_004370.6(COL12A1):c.6692C>T (p.Thr2231Ile)
|
rs1257364285
|
|
NM_004370.6(COL12A1):c.6695C>T (p.Ser2232Phe)
|
rs1765905733
|
|
NM_004370.6(COL12A1):c.6724+6T>C
|
|
|
NM_004370.6(COL12A1):c.6728C>A (p.Thr2243Lys)
|
|
|
NM_004370.6(COL12A1):c.6728C>T (p.Thr2243Ile)
|
rs746250737
|
|
NM_004370.6(COL12A1):c.6733G>A (p.Gly2245Arg)
|
rs2149373796
|
|
NM_004370.6(COL12A1):c.673T>G (p.Tyr225Asp)
|
|
|
NM_004370.6(COL12A1):c.6749T>G (p.Val2250Gly)
|
|
|
NM_004370.6(COL12A1):c.6751C>T (p.Arg2251Cys)
|
rs754290184
|
|
NM_004370.6(COL12A1):c.6764C>T (p.Thr2255Ile)
|
|
|
NM_004370.6(COL12A1):c.6769C>T (p.His2257Tyr)
|
rs2149373719
|
|
NM_004370.6(COL12A1):c.6778A>G (p.Thr2260Ala)
|
rs1765885022
|
|
NM_004370.6(COL12A1):c.6790C>T (p.Pro2264Ser)
|
|
|
NM_004370.6(COL12A1):c.6794A>G (p.Asp2265Gly)
|
|
|
NM_004370.6(COL12A1):c.6808G>C (p.Val2270Leu)
|
rs1765882595
|
|
NM_004370.6(COL12A1):c.6809T>C (p.Val2270Ala)
|
|
|
NM_004370.6(COL12A1):c.6815T>C (p.Val2272Ala)
|
|
|
NM_004370.6(COL12A1):c.6839A>G (p.Glu2280Gly)
|
|
|
NM_004370.6(COL12A1):c.6862G>A (p.Glu2288Lys)
|
|
|
NM_004370.6(COL12A1):c.6866A>G (p.His2289Arg)
|
|
|
NM_004370.6(COL12A1):c.6867T>G (p.His2289Gln)
|
|
|
NM_004370.6(COL12A1):c.6869C>A (p.Thr2290Asn)
|
|
|
NM_004370.6(COL12A1):c.6871A>C (p.Thr2291Pro)
|
|
|
NM_004370.6(COL12A1):c.6889G>A (p.Ala2297Thr)
|
rs1562162215
|
|
NM_004370.6(COL12A1):c.6898G>A (p.Glu2300Lys)
|
rs2149372645
|
|
NM_004370.6(COL12A1):c.6908C>G (p.Thr2303Arg)
|
rs780038146
|
|
NM_004370.6(COL12A1):c.6910C>A (p.Pro2304Thr)
|
rs747966606
|
|
NM_004370.6(COL12A1):c.6911C>T (p.Pro2304Leu)
|
|
|
NM_004370.6(COL12A1):c.6912TCC[1] (p.Pro2308del)
|
rs745810321
|
|
NM_004370.6(COL12A1):c.6914C>T (p.Pro2305Leu)
|
rs1765844509
|
|
NM_004370.6(COL12A1):c.6916C>T (p.Pro2306Ser)
|
rs1554171436
|
|
NM_004370.6(COL12A1):c.6917C>G (p.Pro2306Arg)
|
rs1302398240
|
|
NM_004370.6(COL12A1):c.6946+5G>A
|
rs1582086058
|
|
NM_004370.6(COL12A1):c.6946G>C (p.Val2316Leu)
|
rs1765839616
|
|
NM_004370.6(COL12A1):c.695C>G (p.Thr232Arg)
|
rs200443479
|
|
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu)
|
rs1765724096
|
|
NM_004370.6(COL12A1):c.6983C>T (p.Thr2328Ile)
|
|
|
NM_004370.6(COL12A1):c.6985G>C (p.Asp2329His)
|
rs1765722908
|
|
NM_004370.6(COL12A1):c.7006G>T (p.Asp2336Tyr)
|
rs1400495680
|
|
NM_004370.6(COL12A1):c.7015T>C (p.Phe2339Leu)
|
|
|
NM_004370.6(COL12A1):c.7018A>G (p.Asn2340Asp)
|
|
|
NM_004370.6(COL12A1):c.7021A>G (p.Lys2341Glu)
|
|
|
NM_004370.6(COL12A1):c.7025T>C (p.Val2342Ala)
|
rs778958906
|
|
NM_004370.6(COL12A1):c.703G>T (p.Ala235Ser)
|
|
|
NM_004370.6(COL12A1):c.7045A>G (p.Thr2349Ala)
|
rs1765717648
|
|
NM_004370.6(COL12A1):c.7046C>T (p.Thr2349Ile)
|
rs1231345150
|
|
NM_004370.6(COL12A1):c.704C>T (p.Ala235Val)
|
|
|
NM_004370.6(COL12A1):c.7065A>C (p.Glu2355Asp)
|
rs1055080261
|
|
NM_004370.6(COL12A1):c.7086+4A>G
|
|
|
NM_004370.6(COL12A1):c.7087-3C>T
|
rs1769248501
|
|
NM_004370.6(COL12A1):c.7087-5T>G
|
rs1410734553
|
|
NM_004370.6(COL12A1):c.7087G>A (p.Val2363Ile)
|
|
|
NM_004370.6(COL12A1):c.7124A>T (p.Glu2375Val)
|
rs2149366807
|
|
NM_004370.6(COL12A1):c.7138A>G (p.Thr2380Ala)
|
|
|
NM_004370.6(COL12A1):c.7139C>T (p.Thr2380Met)
|
|
|
NM_004370.6(COL12A1):c.713G>C (p.Arg238Thr)
|
rs1554188387
|
|
NM_004370.6(COL12A1):c.7175A>G (p.Gln2392Arg)
|
|
|
NM_004370.6(COL12A1):c.7184G>A (p.Arg2395Lys)
|
|
|
NM_004370.6(COL12A1):c.7191A>T (p.Arg2397Ser)
|
rs2149366659
|
|
NM_004370.6(COL12A1):c.7201A>C (p.Thr2401Pro)
|
rs1769243797
|
|
NM_004370.6(COL12A1):c.7202C>G (p.Thr2401Arg)
|
|
|
NM_004370.6(COL12A1):c.7210+3dup
|
|
|
NM_004370.6(COL12A1):c.7215G>C (p.Lys2405Asn)
|
rs568748031
|
|
NM_004370.6(COL12A1):c.7216G>A (p.Ala2406Thr)
|
|
|
NM_004370.6(COL12A1):c.7223C>G (p.Thr2408Arg)
|
rs141593495
|
|
NM_004370.6(COL12A1):c.7229T>C (p.Ile2410Thr)
|
rs1769231502
|
|
NM_004370.6(COL12A1):c.7232A>G (p.Lys2411Arg)
|
|
|
NM_004370.6(COL12A1):c.7255A>G (p.Ser2419Gly)
|
|
|
NM_004370.6(COL12A1):c.7258G>A (p.Gly2420Ser)
|
rs1290886066
|
|
NM_004370.6(COL12A1):c.7261A>G (p.Met2421Val)
|
rs910431488
|
|
NM_004370.6(COL12A1):c.7264A>G (p.Arg2422Gly)
|
rs1769229174
|
|
NM_004370.6(COL12A1):c.7270A>C (p.Asn2424His)
|
rs1769228699
|
|
NM_004370.6(COL12A1):c.7282G>T (p.Val2428Leu)
|
|
|
NM_004370.6(COL12A1):c.7288G>T (p.Val2430Phe)
|
|
|
NM_004370.6(COL12A1):c.7292T>C (p.Val2431Ala)
|
rs1769227311
|
|
NM_004370.6(COL12A1):c.7298C>T (p.Thr2433Met)
|
rs1769226903
|
|
NM_004370.6(COL12A1):c.7303G>A (p.Gly2435Ser)
|
rs2149366214
|
|
NM_004370.6(COL12A1):c.7333G>A (p.Ala2445Thr)
|
|
|
NM_004370.6(COL12A1):c.7355G>T (p.Gly2452Val)
|
rs1224729276
|
|
NM_004370.6(COL12A1):c.7360A>C (p.Ser2454Arg)
|
|
|
NM_004370.6(COL12A1):c.7369G>A (p.Val2457Ile)
|
rs2149363695
|
|
NM_004370.6(COL12A1):c.7373T>C (p.Val2458Ala)
|
|
|
NM_004370.6(COL12A1):c.7397A>G (p.Asn2466Ser)
|
|
|
NM_004370.6(COL12A1):c.739A>C (p.Ile247Leu)
|
|
|
NM_004370.6(COL12A1):c.74-2A>T
|
|
|
NM_004370.6(COL12A1):c.7406C>T (p.Ala2469Val)
|
|
|
NM_004370.6(COL12A1):c.7444A>G (p.Ile2482Val)
|
rs1769138600
|
|
NM_004370.6(COL12A1):c.7445T>C (p.Ile2482Thr)
|
|
|
NM_004370.6(COL12A1):c.7446T>G (p.Ile2482Met)
|
|
|
NM_004370.6(COL12A1):c.7454A>T (p.Asp2485Val)
|
|
|
NM_004370.6(COL12A1):c.7460A>C (p.Glu2487Ala)
|
rs1769137471
|
|
NM_004370.6(COL12A1):c.7462T>A (p.Ser2488Thr)
|
|
|
NM_004370.6(COL12A1):c.7482C>G (p.Asp2494Glu)
|
|
|
NM_004370.6(COL12A1):c.7489A>G (p.Ile2497Val)
|
|
|
NM_004370.6(COL12A1):c.748G>A (p.Asp250Asn)
|
|
|
NM_004370.6(COL12A1):c.7493C>A (p.Thr2498Lys)
|
|
|
NM_004370.6(COL12A1):c.7497T>G (p.Phe2499Leu)
|
rs1470111741
|
|
NM_004370.6(COL12A1):c.7519+6T>C
|
rs2149363457
|
|
NM_004370.6(COL12A1):c.7546T>C (p.Tyr2516His)
|
|
|
NM_004370.6(COL12A1):c.7550C>G (p.Thr2517Ser)
|
rs1468041100
|
|
NM_004370.6(COL12A1):c.7558+5G>A
|
|
|
NM_004370.6(COL12A1):c.7576_7577delinsTT (p.Ala2526Leu)
|
rs1769053374
|
|
NM_004370.6(COL12A1):c.7583A>G (p.Asn2528Ser)
|
rs1168175119
|
|
NM_004370.6(COL12A1):c.7584C>G (p.Asn2528Lys)
|
rs2149361441
|
|
NM_004370.6(COL12A1):c.7594A>G (p.Lys2532Glu)
|
|
|
NM_004370.6(COL12A1):c.7596G>C (p.Lys2532Asn)
|
|
|
NM_004370.6(COL12A1):c.7601T>C (p.Phe2534Ser)
|
rs1769052516
|
|
NM_004370.6(COL12A1):c.7603G>T (p.Ala2535Ser)
|
|
|
NM_004370.6(COL12A1):c.7613A>C (p.Gln2538Pro)
|
|
|
NM_004370.6(COL12A1):c.7615G>A (p.Gly2539Arg)
|
|
|
NM_004370.6(COL12A1):c.7619T>C (p.Val2540Ala)
|
rs942074618
|
|
NM_004370.6(COL12A1):c.7633G>T (p.Gly2545Trp)
|
|
|
NM_004370.6(COL12A1):c.7660A>G (p.Arg2554Gly)
|
|
|
NM_004370.6(COL12A1):c.7660A>T (p.Arg2554Trp)
|
rs1302611725
|
|
NM_004370.6(COL12A1):c.7693A>G (p.Thr2565Ala)
|
|
|
NM_004370.6(COL12A1):c.7711A>C (p.Asn2571His)
|
rs1364305836
|
|
NM_004370.6(COL12A1):c.7712A>G (p.Asn2571Ser)
|
|
|
NM_004370.6(COL12A1):c.7714G>A (p.Gly2572Arg)
|
|
|
NM_004370.6(COL12A1):c.7718T>A (p.Leu2573His)
|
|
|
NM_004370.6(COL12A1):c.7724C>A (p.Pro2575His)
|
rs1768945805
|
|
NM_004370.6(COL12A1):c.772G>A (p.Glu258Lys)
|
rs1312651383
|
|
NM_004370.6(COL12A1):c.772G>C (p.Glu258Gln)
|
|
|
NM_004370.6(COL12A1):c.7733C>T (p.Thr2578Met)
|
|
|
NM_004370.6(COL12A1):c.7738A>C (p.Ile2580Leu)
|
|
|
NM_004370.6(COL12A1):c.7740A>G (p.Ile2580Met)
|
|
|
NM_004370.6(COL12A1):c.7756C>G (p.Leu2586Val)
|
rs375113182
|
|
NM_004370.6(COL12A1):c.7763A>C (p.Glu2588Ala)
|
rs1768943469
|
|
NM_004370.6(COL12A1):c.7783G>C (p.Ala2595Pro)
|
|
|
NM_004370.6(COL12A1):c.7817C>G (p.Pro2606Arg)
|
|
|
NM_004370.6(COL12A1):c.7819C>G (p.Gln2607Glu)
|
rs1428757896
|
|
NM_004370.6(COL12A1):c.7841-3C>T
|
|
|
NM_004370.6(COL12A1):c.7841C>T (p.Pro2614Leu)
|
rs1194345062
|
|
NM_004370.6(COL12A1):c.784A>G (p.Arg262Gly)
|
|
|
NM_004370.6(COL12A1):c.785G>A (p.Arg262Lys)
|
rs1554188366
|
|
NM_004370.6(COL12A1):c.7865T>C (p.Phe2622Ser)
|
|
|
NM_004370.6(COL12A1):c.7867A>T (p.Asn2623Tyr)
|
|
|
NM_004370.6(COL12A1):c.7883G>A (p.Gly2628Asp)
|
|
|
NM_004370.6(COL12A1):c.7883G>C (p.Gly2628Ala)
|
rs1582069073
|
|
NM_004370.6(COL12A1):c.7888G>A (p.Val2630Met)
|
|
|
NM_004370.6(COL12A1):c.78C>A (p.Asp26Glu)
|
rs2149482865
|
|
NM_004370.6(COL12A1):c.7905T>A (p.Phe2635Leu)
|
|
|
NM_004370.6(COL12A1):c.7913AAG[1] (p.Glu2639del)
|
rs1238774939
|
|
NM_004370.6(COL12A1):c.7925C>G (p.Thr2642Arg)
|
|
|
NM_004370.6(COL12A1):c.7950+5A>T
|
rs771300269
|
|
NM_004370.6(COL12A1):c.7951G>A (p.Val2651Ile)
|
|
|
NM_004370.6(COL12A1):c.7951G>T (p.Val2651Phe)
|
rs1347122880
|
|
NM_004370.6(COL12A1):c.7954C>T (p.His2652Tyr)
|
|
|
NM_004370.6(COL12A1):c.7981A>C (p.Lys2661Gln)
|
rs1768709126
|
|
NM_004370.6(COL12A1):c.7999T>C (p.Tyr2667His)
|
rs1324430356
|
|
NM_004370.6(COL12A1):c.7A>T (p.Ser3Cys)
|
rs1770598850
|
|
NM_004370.6(COL12A1):c.8008A>G (p.Ile2670Val)
|
|
|
NM_004370.6(COL12A1):c.8022C>G (p.Ile2674Met)
|
rs536679905
|
|
NM_004370.6(COL12A1):c.8033G>A (p.Gly2678Glu)
|
|
|
NM_004370.6(COL12A1):c.8040A>G (p.Ile2680Met)
|
rs1167733175
|
|
NM_004370.6(COL12A1):c.8051G>A (p.Gly2684Asp)
|
|
|
NM_004370.6(COL12A1):c.8053T>C (p.Tyr2685His)
|
rs2149353031
|
|
NM_004370.6(COL12A1):c.806T>C (p.Val269Ala)
|
|
|
NM_004370.6(COL12A1):c.8098G>A (p.Ala2700Thr)
|
|
|
NM_004370.6(COL12A1):c.80C>A (p.Pro27Gln)
|
|
|
NM_004370.6(COL12A1):c.8100+4A>T
|
rs2149352934
|
|
NM_004370.6(COL12A1):c.8100+5G>T
|
|
|
NM_004370.6(COL12A1):c.8119G>T (p.Asp2707Tyr)
|
rs1768551206
|
|
NM_004370.6(COL12A1):c.8122A>G (p.Ile2708Val)
|
|
|
NM_004370.6(COL12A1):c.8132G>A (p.Ser2711Asn)
|
rs1768550579
|
|
NM_004370.6(COL12A1):c.8178+6T>C
|
|
|
NM_004370.6(COL12A1):c.8178G>A (p.Arg2726=)
|
rs1768547356
|
|
NM_004370.6(COL12A1):c.8179-17T>G
|
|
|
NM_004370.6(COL12A1):c.817T>A (p.Ser273Thr)
|
|
|
NM_004370.6(COL12A1):c.8189G>A (p.Gly2730Glu)
|
|
|
NM_004370.6(COL12A1):c.8198C>G (p.Pro2733Arg)
|
rs1768494060
|
|
NM_004370.6(COL12A1):c.8201C>T (p.Ala2734Val)
|
|
|
NM_004370.6(COL12A1):c.823+4G>A
|
|
|
NM_004370.6(COL12A1):c.8230G>C (p.Asp2744His)
|
|
|
NM_004370.6(COL12A1):c.8235C>G (p.Ser2745Arg)
|
|
|
NM_004370.6(COL12A1):c.8236G>A (p.Val2746Ile)
|
|
|
NM_004370.6(COL12A1):c.8239G>A (p.Gly2747Arg)
|
|
|
NM_004370.6(COL12A1):c.8249G>C (p.Gly2750Ala)
|
rs1582055239
|
|
NM_004370.6(COL12A1):c.8251C>A (p.Pro2751Thr)
|
|
|
NM_004370.6(COL12A1):c.8254C>A (p.Pro2752Thr)
|
rs1768489455
|
|
NM_004370.6(COL12A1):c.8263G>T (p.Ala2755Ser)
|
|
|
NM_004370.6(COL12A1):c.8266-6T>G
|
|
|
NM_004370.6(COL12A1):c.8266-8T>A
|
|
|
NM_004370.6(COL12A1):c.8276G>A (p.Gly2759Asp)
|
rs1554168599
|
|
NM_004370.6(COL12A1):c.8278G>A (p.Ala2760Thr)
|
rs1768418483
|
|
NM_004370.6(COL12A1):c.8285G>T (p.Gly2762Val)
|
|
|
NM_004370.6(COL12A1):c.82C>A (p.Pro28Thr)
|
rs1473515166
|
|
NM_004370.6(COL12A1):c.8305A>G (p.Ile2769Val)
|
rs1476228934
|
|
NM_004370.6(COL12A1):c.8317A>G (p.Ile2773Val)
|
rs1254845133
|
|
NM_004370.6(COL12A1):c.8319+5G>A
|
|
|
NM_004370.6(COL12A1):c.8320G>T (p.Gly2774Trp)
|
rs1768363255
|
|
NM_004370.6(COL12A1):c.8321G>A (p.Gly2774Glu)
|
rs1768363108
|
|
NM_004370.6(COL12A1):c.8324C>T (p.Pro2775Leu)
|
|
|
NM_004370.6(COL12A1):c.8335C>T (p.Arg2779Cys)
|
rs1768362148
|
|
NM_004370.6(COL12A1):c.8336G>C (p.Arg2779Pro)
|
|
|
NM_004370.6(COL12A1):c.8342A>C (p.Asp2781Ala)
|
|
|
NM_004370.6(COL12A1):c.8351C>T (p.Pro2784Leu)
|
rs997353607
|
|
NM_004370.6(COL12A1):c.8353C>T (p.Pro2785Ser)
|
|
|
NM_004370.6(COL12A1):c.8354C>T (p.Pro2785Leu)
|
rs1160043441
|
|
NM_004370.6(COL12A1):c.8360C>T (p.Pro2787Leu)
|
|
|
NM_004370.6(COL12A1):c.8361_8378del (p.2785_2790PGPQGP[1])
|
rs1562116272
|
|
NM_004370.6(COL12A1):c.8365G>C (p.Gly2789Arg)
|
rs1768359621
|
|
NM_004370.6(COL12A1):c.8365_8366insCCTCCA (p.Gly2789delinsAlaSerSer)
|
|
|
NM_004370.6(COL12A1):c.8368C>T (p.Pro2790Ser)
|
rs1582050849
|
|
NM_004370.6(COL12A1):c.8375G>A (p.Gly2792Asp)
|
rs1768358751
|
|
NM_004370.6(COL12A1):c.8387C>T (p.Pro2796Leu)
|
|
|
NM_004370.6(COL12A1):c.8392G>A (p.Gly2798Arg)
|
rs1582050802
|
|
NM_004370.6(COL12A1):c.8393G>T (p.Gly2798Val)
|
|
|
NM_004370.6(COL12A1):c.839A>G (p.Asp280Gly)
|
|
|
NM_004370.6(COL12A1):c.8404C>A (p.Pro2802Thr)
|
|
|
NM_004370.6(COL12A1):c.8408G>C (p.Gly2803Ala)
|
|
|
NM_004370.6(COL12A1):c.8412G>C (p.Glu2804Asp)
|
rs1768356411
|
|
NM_004370.6(COL12A1):c.8415+2dup
|
|
|
NM_004370.6(COL12A1):c.8416G>T (p.Gly2806Cys)
|
rs2149343509
|
|
NM_004370.6(COL12A1):c.8434G>A (p.Gly2812Ser)
|
|
|
NM_004370.6(COL12A1):c.8468C>T (p.Thr2823Ile)
|
|
|
NM_004370.6(COL12A1):c.8474C>A (p.Thr2825Asn)
|
rs1280191331
|
|
NM_004370.6(COL12A1):c.847G>T (p.Glu283Ter)
|
|
|
NM_004370.6(COL12A1):c.8486C>A (p.Pro2829His)
|
|
|
NM_004370.6(COL12A1):c.848A>T (p.Glu283Val)
|
rs1554188241
|
|
NM_004370.6(COL12A1):c.8491C>T (p.Pro2831Ser)
|
rs2149343047
|
|
NM_004370.6(COL12A1):c.8504T>G (p.Met2835Arg)
|
|
|
NM_004370.6(COL12A1):c.8510C>T (p.Pro2837Leu)
|
|
|
NM_004370.6(COL12A1):c.8524-3T>G
|
|
|
NM_004370.6(COL12A1):c.8530A>C (p.Thr2844Pro)
|
|
|
NM_004370.6(COL12A1):c.8530A>T (p.Thr2844Ser)
|
|
|
NM_004370.6(COL12A1):c.8567C>G (p.Pro2856Arg)
|
rs574147225
|
|
NM_004370.6(COL12A1):c.8577+4A>G
|
rs1562105188
|
|
NM_004370.6(COL12A1):c.8577G>A (p.Pro2859=)
|
rs1768087709
|
|
NM_004370.6(COL12A1):c.8578-6T>G
|
|
|
NM_004370.6(COL12A1):c.8602A>G (p.Thr2868Ala)
|
rs2149333527
|
|
NM_004370.6(COL12A1):c.8605G>A (p.Gly2869Arg)
|
rs1554167424
|
|
NM_004370.6(COL12A1):c.8611A>C (p.Ser2871Arg)
|
|
|
NM_004370.6(COL12A1):c.863C>T (p.Ala288Val)
|
rs1385414325
|
|
NM_004370.6(COL12A1):c.8643C>T (p.Gly2881=)
|
rs1767942315
|
|
NM_004370.6(COL12A1):c.8649+6C>T
|
rs1037107431
|
|
NM_004370.6(COL12A1):c.8649A>G (p.Pro2883=)
|
rs900917198
|
|
NM_004370.6(COL12A1):c.8650G>T (p.Gly2884Cys)
|
|
|
NM_004370.6(COL12A1):c.8672A>G (p.Glu2891Gly)
|
rs1767765917
|
|
NM_004370.6(COL12A1):c.8685+1G>A
|
|
|
NM_004370.6(COL12A1):c.8685+3A>G
|
|
|
NM_004370.6(COL12A1):c.8685+4T>C
|
|
|
NM_004370.6(COL12A1):c.8685G>A (p.Arg2895=)
|
|
|
NM_004370.6(COL12A1):c.871C>A (p.Pro291Thr)
|
rs1319038184
|
|
NM_004370.6(COL12A1):c.8720T>A (p.Val2907Asp)
|
|
|
NM_004370.6(COL12A1):c.8751T>A (p.Ser2917Arg)
|
rs1562093184
|
|
NM_004370.6(COL12A1):c.8752+5A>C
|
|
|
NM_004370.6(COL12A1):c.8762A>T (p.Asn2921Ile)
|
rs1767695881
|
|
NM_004370.6(COL12A1):c.8771A>G (p.Asn2924Ser)
|
|
|
NM_004370.6(COL12A1):c.8777T>C (p.Met2926Thr)
|
|
|
NM_004370.6(COL12A1):c.8783A>G (p.Asn2928Ser)
|
|
|
NM_004370.6(COL12A1):c.8804A>C (p.Gln2935Pro)
|
|
|
NM_004370.6(COL12A1):c.8813G>T (p.Arg2938Leu)
|
rs752206319
|
|
NM_004370.6(COL12A1):c.8828C>T (p.Pro2943Leu)
|
|
|
NM_004370.6(COL12A1):c.8837C>T (p.Pro2946Leu)
|
|
|
NM_004370.6(COL12A1):c.8851G>A (p.Gly2951Ser)
|
|
|
NM_004370.6(COL12A1):c.8852G>T (p.Gly2951Val)
|
|
|
NM_004370.6(COL12A1):c.8858C>T (p.Ala2953Val)
|
rs1554166746
|
|
NM_004370.6(COL12A1):c.8863G>A (p.Ala2955Thr)
|
|
|
NM_004370.6(COL12A1):c.8875C>T (p.Pro2959Ser)
|
rs1562090566
|
|
NM_004370.6(COL12A1):c.887T>G (p.Val296Gly)
|
rs1769748525
|
|
NM_004370.6(COL12A1):c.8884G>T (p.Gly2962Trp)
|
|
|
NM_004370.6(COL12A1):c.8890C>T (p.Arg2964Trp)
|
rs760317754
|
|
NM_004370.6(COL12A1):c.8891G>T (p.Arg2964Leu)
|
rs369768310
|
|
NM_004370.6(COL12A1):c.8903C>A (p.Pro2968Gln)
|
|
|
NM_004370.6(COL12A1):c.890T>C (p.Phe297Ser)
|
|
|
NM_004370.6(COL12A1):c.8912C>A (p.Pro2971Gln)
|
rs1767686939
|
|
NM_004370.6(COL12A1):c.8915G>A (p.Gly2972Glu)
|
rs1582030236
|
|
NM_004370.6(COL12A1):c.8922G>C (p.Gln2974His)
|
|
|
NM_004370.6(COL12A1):c.8929C>A (p.Pro2977Thr)
|
rs1310755474
|
|
NM_004370.6(COL12A1):c.892A>T (p.Asn298Tyr)
|
rs1404705545
|
|
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
|
|
|
NM_004370.6(COL12A1):c.8939G>A (p.Arg2980Gln)
|
|
|
NM_004370.6(COL12A1):c.8946G>T (p.Leu2982Phe)
|
rs1767642437
|
|
NM_004370.6(COL12A1):c.8953G>A (p.Glu2985Lys)
|
rs1767642101
|
|
NM_004370.6(COL12A1):c.8954A>G (p.Glu2985Gly)
|
|
|
NM_004370.6(COL12A1):c.899C>T (p.Ala300Val)
|
rs763589676
|
|
NM_004370.6(COL12A1):c.89A>G (p.Asp30Gly)
|
rs1582219536
|
|
NM_004370.6(COL12A1):c.9004C>T (p.Pro3002Ser)
|
|
|
NM_004370.6(COL12A1):c.9010+2T>C
|
|
|
NM_004370.6(COL12A1):c.9010+4G>C
|
rs2149325295
|
|
NM_004370.6(COL12A1):c.9010+5G>A
|
|
|
NM_004370.6(COL12A1):c.9014C>T (p.Pro3005Leu)
|
rs1767574773
|
|
NM_004370.6(COL12A1):c.9032C>T (p.Thr3011Ile)
|
rs1767574420
|
|
NM_004370.6(COL12A1):c.9050C>T (p.Thr3017Ile)
|
rs1767573014
|
|
NM_004370.6(COL12A1):c.9055T>C (p.Ser3019Pro)
|
rs1307746550
|
|
NM_004370.6(COL12A1):c.9065CCCCTGGCC[3] (p.Gly3027_Arg3028insProProGly)
|
|
|
NM_004370.6(COL12A1):c.9071G>A (p.Gly3024Asp)
|
|
|
NM_004370.6(COL12A1):c.9073C>T (p.Pro3025Ser)
|
rs560180665
|
|
NM_004370.6(COL12A1):c.9074C>A (p.Pro3025His)
|
|
|
NM_004370.6(COL12A1):c.9076C>T (p.Pro3026Ser)
|
rs376189614
|
|
NM_004370.6(COL12A1):c.9077C>T (p.Pro3026Leu)
|
rs1767570608
|
|
NM_004370.6(COL12A1):c.9077del (p.Pro3026fs)
|
|
|
NM_004370.6(COL12A1):c.9078del (p.Gly3027fs)
|
rs2149322917
|
|
NM_004370.6(COL12A1):c.9082C>T (p.Arg3028Cys)
|
rs1767569916
|
|
NM_004370.6(COL12A1):c.9092A>G (p.Asn3031Ser)
|
|
|
NM_004370.6(COL12A1):c.9107G>A (p.Gly3036Glu)
|
|
|
NM_004370.6(COL12A1):c.9109C>T (p.Pro3037Ser)
|
|
|
NM_004370.6(COL12A1):c.9115G>A (p.Gly3039Ser)
|
|
|
NM_004370.6(COL12A1):c.9122C>T (p.Pro3041Leu)
|
rs1767566470
|
|
NM_004370.6(COL12A1):c.9130T>G (p.Cys3044Gly)
|
rs2149322777
|
|
NM_004370.6(COL12A1):c.9134A>T (p.Asp3045Val)
|
rs751471471
|
|
NM_004370.6(COL12A1):c.913A>G (p.Ile305Val)
|
rs1769746949
|
|
NM_004370.6(COL12A1):c.9146G>A (p.Cys3049Tyr)
|
rs1268620135
|
|
NM_004370.6(COL12A1):c.9149C>A (p.Ala3050Asp)
|
|
|
NM_004370.6(COL12A1):c.9176A>G (p.Tyr3059Cys)
|
|
|
NM_004370.6(COL12A1):c.9178C>T (p.Pro3060Ser)
|
|
|
NM_004370.6(COL12A1):c.9181+4C>G
|
|
|
NM_004370.6(COL12A1):c.9181+5G>A
|
|
|
NM_004370.6(COL12A1):c.9185C>T (p.Ser3062Phe)
|
|
|
NM_004370.6(COL12A1):c.946G>A (p.Val316Met)
|
|
|
NM_004370.6(COL12A1):c.97T>G (p.Phe33Val)
|
rs1442527803
|
|
NM_004370.6(COL12A1):c.982G>T (p.Val328Phe)
|
rs370040853
|
|
NM_004370.6(COL12A1):c.984T>G (p.Val328=)
|
|
|
NM_004370.6(COL12A1):c.986G>A (p.Ser329Asn)
|
rs1769743212
|
|
NM_004370.6(COL12A1):c.993A>C (p.Glu331Asp)
|
|
|
NM_004370.6(COL12A1):c.997+2T>C
|
|
|
NM_058174.3(COL6A2):c.2654C>G (p.Thr885Ser)
|
|
|