NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val)
|
rs766796504
|
0.00010
|
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val)
|
rs774849517
|
0.00003
|
NM_000393.5(COL5A2):c.1005+3A>G
|
rs375809563
|
0.00003
|
NM_000089.4(COL1A2):c.647G>A (p.Arg216His)
|
rs756743425
|
0.00002
|
NM_000089.4(COL1A2):c.1522G>A (p.Gly508Ser)
|
rs769600024
|
0.00001
|
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)
|
rs928361235
|
0.00001
|
NM_000093.5(COL5A1):c.1720-11T>A
|
rs863223444
|
0.00001
|
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser)
|
rs777625241
|
0.00001
|
NM_000393.5(COL5A2):c.1302G>A (p.Thr434=)
|
rs376170776
|
0.00001
|
NC_000002.11:g.(?_189839206)_(189950508_?)del
|
|
|
NC_000002.11:g.(?_189913190)_(189918176_?)del
|
|
|
NC_000009.11:g.(?_137582738)_(137593199_?)dup
|
|
|
NC_000009.11:g.(?_137676815)_(137677914_?)del
|
|
|
NC_000009.12:g.(?_134834951)_(134835224_?)del
|
|
|
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)
|
rs1064796419
|
|
NM_000089.4(COL1A2):c.1089+1G>A
|
|
|
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)
|
rs121912912
|
|
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)
|
rs1554396271
|
|
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del)
|
rs1791941199
|
|
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
|
|
|
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)
|
rs755058199
|
|
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)
|
|
|
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)
|
rs1554396612
|
|
NM_000089.4(COL1A2):c.1503+1G>A
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1503+1G>C
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1504G>A (p.Gly502Ser)
|
rs121912910
|
|
NM_000089.4(COL1A2):c.1505G>A (p.Gly502Asp)
|
|
|
NM_000089.4(COL1A2):c.1514G>C (p.Gly505Ala)
|
rs1554396680
|
|
NM_000089.4(COL1A2):c.1764+1G>T
|
rs72658140
|
|
NM_000089.4(COL1A2):c.1765-2del
|
|
|
NM_000089.4(COL1A2):c.1775G>A (p.Gly592Asp)
|
|
|
NM_000089.4(COL1A2):c.1793G>A (p.Gly598Asp)
|
rs72658142
|
|
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)
|
rs72658142
|
|
NM_000089.4(COL1A2):c.1811G>A (p.Gly604Asp)
|
rs2115917059
|
|
NM_000089.4(COL1A2):c.1820G>C (p.Gly607Ala)
|
rs1792043985
|
|
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
|
rs1792044352
|
|
NM_000089.4(COL1A2):c.1838G>A (p.Gly613Glu)
|
rs2115917195
|
|
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu)
|
rs2115917306
|
|
NM_000089.4(COL1A2):c.1873G>T (p.Gly625Cys)
|
rs193922162
|
|
NM_000089.4(COL1A2):c.1874G>C (p.Gly625Ala)
|
rs72658145
|
|
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)
|
|
|
NM_000089.4(COL1A2):c.2026-2A>G
|
|
|
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)
|
rs1584325552
|
|
NM_000089.4(COL1A2):c.2036G>C (p.Gly679Ala)
|
rs2115927860
|
|
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
|
|
|
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
|
rs1792108068
|
|
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)
|
rs121912908
|
|
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
|
|
|
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
|
|
|
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)
|
rs1562905246
|
|
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
|
rs1792140624
|
|
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2330GTG[3] (p.Gly778_Asp779insGly)
|
|
|
NM_000089.4(COL1A2):c.2333G>C (p.Gly778Ala)
|
rs2115933783
|
|
NM_000089.4(COL1A2):c.2427_2435dup (p.Pro812_Ala813insProGlyPro)
|
|
|
NM_000089.4(COL1A2):c.2441G>A (p.Gly814Glu)
|
rs1554397975
|
|
NM_000089.4(COL1A2):c.2449G>T (p.Gly817Trp)
|
rs2115941022
|
|
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
|
|
|
NM_000089.4(COL1A2):c.2711G>C (p.Gly904Ala)
|
|
|
NM_000089.4(COL1A2):c.2729G>A (p.Gly910Asp)
|
|
|
NM_000089.4(COL1A2):c.2737G>A (p.Gly913Ser)
|
rs1305819869
|
|
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
|
|
|
NM_000089.4(COL1A2):c.280-2A>G
|
rs2115874899
|
|
NM_000089.4(COL1A2):c.280-2del
|
|
|
NM_000089.4(COL1A2):c.280G>A (p.Gly94Ser)
|
|
|
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp)
|
rs1584329740
|
|
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
|
|
|
NM_000089.4(COL1A2):c.2943+1G>C
|
rs1562907190
|
|
NM_000089.4(COL1A2):c.2953G>A (p.Gly985Ser)
|
rs2115953343
|
|
NM_000089.4(COL1A2):c.2962G>T (p.Gly988Cys)
|
|
|
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)
|
rs1554398396
|
|
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)
|
rs1584315950
|
|
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
|
|
|
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)
|
|
|
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)
|
rs72659325
|
|
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
|
|
|
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)
|
rs2115957255
|
|
NM_000089.4(COL1A2):c.3159+1G>A
|
|
|
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)
|
rs2115875189
|
|
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
|
|
|
NM_000089.4(COL1A2):c.325G>C (p.Gly109Arg)
|
|
|
NM_000089.4(COL1A2):c.3260G>T (p.Gly1087Val)
|
rs72659335
|
|
NM_000089.4(COL1A2):c.3268G>A (p.Gly1090Ser)
|
|
|
NM_000089.4(COL1A2):c.334G>A (p.Gly112Ser)
|
rs1554395411
|
|
NM_000089.4(COL1A2):c.3350A>G (p.Tyr1117Cys)
|
rs2115959866
|
|
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del)
|
rs2115962258
|
|
NM_000089.4(COL1A2):c.3865G>C (p.Ala1289Pro)
|
rs759477389
|
|
NM_000089.4(COL1A2):c.3868_3869dup (p.Ile1291fs)
|
rs1792353123
|
|
NM_000089.4(COL1A2):c.3951C>A (p.Cys1317Ter)
|
|
|
NM_000089.4(COL1A2):c.3971G>A (p.Trp1324Ter)
|
rs2115969692
|
|
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)
|
rs1562899031
|
|
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
|
|
|
NM_000089.4(COL1A2):c.433-2A>G
|
rs1554395471
|
|
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)
|
|
|
NM_000089.4(COL1A2):c.488G>T (p.Gly163Val)
|
|
|
NM_000089.4(COL1A2):c.505G>A (p.Gly169Arg)
|
rs2115879081
|
|
NM_000089.4(COL1A2):c.515G>T (p.Gly172Val)
|
rs768263997
|
|
NM_000089.4(COL1A2):c.538_540+11del
|
|
|
NM_000089.4(COL1A2):c.541G>A (p.Gly181Arg)
|
rs1791793058
|
|
NM_000089.4(COL1A2):c.595-2A>G
|
rs72656375
|
|
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)
|
rs72656377
|
|
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
|
|
|
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)
|
|
|
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)
|
rs193922173
|
|
NM_000089.4(COL1A2):c.685G>A (p.Gly229Ser)
|
|
|
NM_000089.4(COL1A2):c.704G>A (p.Gly235Asp)
|
|
|
NM_000089.4(COL1A2):c.712G>A (p.Gly238Arg)
|
|
|
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)
|
rs1584318303
|
|
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)
|
rs1562900513
|
|
NM_000089.4(COL1A2):c.776G>C (p.Gly259Ala)
|
rs1584318648
|
|
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val)
|
rs1584318648
|
|
NM_000089.4(COL1A2):c.784G>C (p.Gly262Arg)
|
rs1554395970
|
|
NM_000089.4(COL1A2):c.785G>A (p.Gly262Asp)
|
rs1791858238
|
|
NM_000089.4(COL1A2):c.792G>C (p.Lys264Asn)
|
rs2115890442
|
|
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del)
|
rs1584318956
|
|
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
|
|
|
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)
|
|
|
NM_000093.5(COL5A1):c.110-1G>C
|
rs1833255504
|
|
NM_000093.5(COL5A1):c.1431+1G>A
|
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
NM_000093.5(COL5A1):c.1433G>C (p.Gly478Ala)
|
|
|
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser)
|
rs878853652
|
|
NM_000093.5(COL5A1):c.1569+1G>A
|
rs2132682690
|
|
NM_000093.5(COL5A1):c.1633C>T (p.Gln545Ter)
|
rs895691193
|
|
NM_000093.5(COL5A1):c.1662+1G>A
|
rs1835753446
|
|
NM_000093.5(COL5A1):c.1720-1G>A
|
rs1835880166
|
|
NM_000093.5(COL5A1):c.1774-1G>A
|
rs2132690733
|
|
NM_000093.5(COL5A1):c.1910G>T (p.Gly637Val)
|
rs777506210
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
NM_000093.5(COL5A1):c.2034+2T>A
|
|
|
NM_000093.5(COL5A1):c.2134-2_2150dup
|
|
|
NM_000093.5(COL5A1):c.2331+1G>A
|
|
|
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys)
|
rs2132747882
|
|
NM_000093.5(COL5A1):c.2429_2430+26del
|
|
|
NM_000093.5(COL5A1):c.2431-1G>A
|
|
|
NM_000093.5(COL5A1):c.2484+1G>T
|
rs1564455577
|
|
NM_000093.5(COL5A1):c.2488G>T (p.Glu830Ter)
|
rs1837403402
|
|
NM_000093.5(COL5A1):c.2512G>A (p.Gly838Arg)
|
|
|
NM_000093.5(COL5A1):c.2700+2T>C
|
rs1588551226
|
|
NM_000093.5(COL5A1):c.2701-1G>A
|
|
|
NM_000093.5(COL5A1):c.278-1G>T
|
|
|
NM_000093.5(COL5A1):c.3006+1G>A
|
|
|
NM_000093.5(COL5A1):c.3114+1G>A
|
rs1838169083
|
|
NM_000093.5(COL5A1):c.3205-1G>C
|
|
|
NM_000093.5(COL5A1):c.3379_3382del (p.Pro1127fs)
|
|
|
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg)
|
rs1838467288
|
|
NM_000093.5(COL5A1):c.3529-1G>T
|
rs1588577214
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys)
|
rs1319735007
|
|
NM_000093.5(COL5A1):c.4015-1G>A
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.4069-1G>T
|
rs1564478485
|
|
NM_000093.5(COL5A1):c.4176+1G>T
|
|
|
NM_000093.5(COL5A1):c.4231-2A>G
|
|
|
NM_000093.5(COL5A1):c.4393-1G>A
|
|
|
NM_000093.5(COL5A1):c.4465G>A (p.Gly1489Arg)
|
rs1838935159
|
|
NM_000093.5(COL5A1):c.4554+1G>C
|
rs1564482508
|
|
NM_000093.5(COL5A1):c.474_491+24del
|
|
|
NM_000093.5(COL5A1):c.4804_4805insCGTTCTCTACCAGCTGC (p.Val1602fs)
|
rs1839191116
|
|
NM_000093.5(COL5A1):c.4916G>A (p.Cys1639Tyr)
|
|
|
NM_000093.5(COL5A1):c.4955-1G>C
|
|
|
NM_000093.5(COL5A1):c.5038T>C (p.Cys1680Arg)
|
|
|
NM_000093.5(COL5A1):c.5067+1G>A
|
rs1839245948
|
|
NM_000093.5(COL5A1):c.5136+68_5136+73delinsT
|
rs1839542247
|
|
NM_000093.5(COL5A1):c.5136_5136+8delinsTGAATTCCCAC
|
rs1839537297
|
|
NM_000093.5(COL5A1):c.5141_5143del (p.Ser1714del)
|
rs1060502250
|
|
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)
|
rs1554781678
|
|
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn)
|
rs1588615451
|
|
NM_000093.5(COL5A1):c.5241C>A (p.Tyr1747Ter)
|
|
|
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)
|
rs1588621711
|
|
NM_000093.5(COL5A1):c.5504G>C (p.Cys1835Ser)
|
rs1060502246
|
|
NM_000093.5(COL5A1):c.655-1917_690del
|
|
|
NM_000093.5(COL5A1):c.655-1G>A
|
|
|
NM_000093.5(COL5A1):c.655-2A>G
|
rs786205101
|
|
NM_000093.5(COL5A1):c.655-2A>T
|
rs786205101
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
NM_000093.5(COL5A1):c.786+5G>T
|
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
NM_000093.5(COL5A1):c.925-2A>C
|
rs2132639011
|
|
NM_000393.5(COL5A2):c.1159-1G>A
|
|
|
NM_000393.5(COL5A2):c.1186G>C (p.Gly396Arg)
|
rs1686209873
|
|
NM_000393.5(COL5A2):c.1502G>A (p.Gly501Asp)
|
|
|
NM_000393.5(COL5A2):c.1907G>C (p.Gly636Ala)
|
|
|
NM_000393.5(COL5A2):c.1924-11T>C
|
|
|
NM_000393.5(COL5A2):c.1933G>A (p.Gly645Arg)
|
rs1559085564
|
|
NM_000393.5(COL5A2):c.1977+1G>A
|
rs1576502045
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
NM_000393.5(COL5A2):c.2031+1G>A
|
|
|
NM_000393.5(COL5A2):c.2130+1G>A
|
rs2105579086
|
|
NM_000393.5(COL5A2):c.2285G>A (p.Gly762Asp)
|
|
|
NM_000393.5(COL5A2):c.2553+1G>T
|
|
|
NM_000393.5(COL5A2):c.2833G>A (p.Gly945Arg)
|
rs1685785467
|
|
NM_000393.5(COL5A2):c.3230del (p.Gly1077fs)
|
|
|
NM_000393.5(COL5A2):c.3309+1G>A
|
rs1553513657
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
NM_000393.5(COL5A2):c.3391G>A (p.Gly1131Ser)
|
rs747946828
|
|
NM_000393.5(COL5A2):c.3445G>C (p.Gly1149Arg)
|
rs121912930
|
|
NM_000393.5(COL5A2):c.3490G>C (p.Gly1164Arg)
|
rs1685586746
|
|
NM_000393.5(COL5A2):c.369+1G>T
|
rs1559104199
|
|
NM_000393.5(COL5A2):c.568-316_3525+41del
|
|
|
NM_000393.5(COL5A2):c.754G>T (p.Gly252Cys)
|
rs1553517323
|
|
NM_000393.5(COL5A2):c.98-1G>T
|
rs2105712615
|
|
NM_004612.4(TGFBR1):c.575G>A (p.Gly192Asp)
|
rs1564161224
|
|