NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000089.4(COL1A2):c.647G>A (p.Arg216His)
|
rs756743425
|
0.00002
|
NM_000089.4(COL1A2):c.1404+1G>A
|
rs67162110
|
0.00001
|
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_000089.4(COL1A2):c.2656G>A (p.Gly886Ser)
|
rs886043796
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
NM_000089.4(COL1A2):c.2957C>T (p.Pro986Leu)
|
rs768171831
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000089.4(COL1A2):c.946G>A (p.Gly316Ser)
|
rs72656392
|
0.00001
|
NC_000007.13:g.[94023928_94036950del;94039083_94045769dup]
|
|
|
NC_000007.14:g.(?_94402140)_(94406279_?)del
|
|
|
NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp)
|
rs1584319418
|
|
NM_000089.4(COL1A2):c.1018G>A (p.Gly340Ser)
|
rs67180473
|
|
NM_000089.4(COL1A2):c.1036G>A (p.Gly346Ser)
|
|
|
NM_000089.4(COL1A2):c.1054G>A (p.Gly352Ser)
|
rs1064796419
|
|
NM_000089.4(COL1A2):c.1069_1070del (p.Ser357fs)
|
rs1131691888
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
NM_000089.4(COL1A2):c.1081G>A (p.Gly361Ser)
|
|
|
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)
|
rs1791894410
|
|
NM_000089.4(COL1A2):c.1089+1G>A
|
|
|
NM_000089.4(COL1A2):c.1135G>A (p.Gly379Arg)
|
rs786205587
|
|
NM_000089.4(COL1A2):c.1136G>C (p.Gly379Ala)
|
rs121912912
|
|
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
|
|
|
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1171G>C (p.Gly391Arg)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1199G>A (p.Gly400Asp)
|
|
|
NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp)
|
rs1554396271
|
|
NM_000089.4(COL1A2):c.1208G>T (p.Gly403Val)
|
rs1554396271
|
|
NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del)
|
rs1791907178
|
|
NM_000089.4(COL1A2):c.1217G>A (p.Gly406Asp)
|
|
|
NM_000089.4(COL1A2):c.1235G>T (p.Gly412Val)
|
rs1554396283
|
|
NM_000089.4(COL1A2):c.1288G>A (p.Gly430Arg)
|
|
|
NM_000089.4(COL1A2):c.1306G>A (p.Gly436Arg)
|
rs2115899372
|
|
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)
|
rs1584320605
|
|
NM_000089.4(COL1A2):c.1343G>A (p.Gly448Glu)
|
rs72658116
|
|
NM_000089.4(COL1A2):c.1349_1350+2del
|
rs2115899670
|
|
NM_000089.4(COL1A2):c.1391AAG[1] (p.Glu465del)
|
rs1791941199
|
|
NM_000089.4(COL1A2):c.1396G>A (p.Gly466Ser)
|
rs1584321194
|
|
NM_000089.4(COL1A2):c.1405G>A (p.Gly469Ser)
|
|
|
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)
|
rs755058199
|
|
NM_000089.4(COL1A2):c.1424G>T (p.Gly475Val)
|
rs1791951769
|
|
NM_000089.4(COL1A2):c.1432G>T (p.Gly478Cys)
|
|
|
NM_000089.4(COL1A2):c.1477G>C (p.Gly493Arg)
|
rs1554396612
|
|
NM_000089.4(COL1A2):c.1496G>C (p.Gly499Ala)
|
rs72658122
|
|
NM_000089.4(COL1A2):c.1496G>T (p.Gly499Val)
|
rs72658122
|
|
NM_000089.4(COL1A2):c.1503+1G>A
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1503+1G>C
|
rs1554396615
|
|
NM_000089.4(COL1A2):c.1504-2A>G
|
|
|
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.1531G>T (p.Gly511Cys)
|
|
|
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)
|
rs1791962073
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
NM_000089.4(COL1A2):c.1612G>A (p.Gly538Ser)
|
|
|
NM_000089.4(COL1A2):c.1630G>T (p.Gly544Cys)
|
rs72658134
|
|
NM_000089.4(COL1A2):c.1631G>C (p.Gly544Ala)
|
rs72658135
|
|
NM_000089.4(COL1A2):c.1657G>T (p.Gly553Cys)
|
|
|
NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val)
|
rs1584322737
|
|
NM_000089.4(COL1A2):c.1685G>A (p.Gly562Asp)
|
rs1791991940
|
|
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)
|
rs794727470
|
|
NM_000089.4(COL1A2):c.169G>T (p.Gly57Cys)
|
|
|
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.1812del (p.Pro605fs)
|
rs1792043667
|
|
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.1847G>A (p.Gly616Glu)
|
rs1554397133
|
|
NM_000089.4(COL1A2):c.1854_1856del (p.Asp618_Gly619delinsGlu)
|
rs2115917306
|
|
NM_000089.4(COL1A2):c.1863+2T>G
|
rs1418151948
|
|
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)
|
rs2115921275
|
|
NM_000089.4(COL1A2):c.1865G>T (p.Gly622Val)
|
rs2115921279
|
|
NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser)
|
rs193922162
|
|
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.1901G>T (p.Gly634Val)
|
|
|
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val)
|
rs72658150
|
|
NM_000089.4(COL1A2):c.1972-1G>T
|
rs2115924241
|
|
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
|
rs72658154
|
|
NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys)
|
rs1554397369
|
|
NM_000089.4(COL1A2):c.2008G>A (p.Gly670Ser)
|
|
|
NM_000089.4(COL1A2):c.2010_2013delinsG (p.Arg671del)
|
|
|
NM_000089.4(COL1A2):c.2011del (p.Arg671fs)
|
rs2115924490
|
|
NM_000089.4(COL1A2):c.2026-2A>G
|
|
|
NM_000089.4(COL1A2):c.2026G>A (p.Gly676Ser)
|
|
|
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)
|
rs66883877
|
|
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.2042_2059del (p.Val681_Pro686del)
|
|
|
NM_000089.4(COL1A2):c.2053G>T (p.Gly685Cys)
|
|
|
NM_000089.4(COL1A2):c.2063G>A (p.Gly688Glu)
|
rs1792108068
|
|
NM_000089.4(COL1A2):c.2072G>A (p.Gly691Asp)
|
rs1792108270
|
|
NM_000089.4(COL1A2):c.2079+1G>A
|
|
|
NM_000089.4(COL1A2):c.2080G>A (p.Gly694Ser)
|
rs121912908
|
|
NM_000089.4(COL1A2):c.2095GCTGGTCCT[2] (p.699AGP[2])
|
rs72658162
|
|
NM_000089.4(COL1A2):c.2107G>T (p.Gly703Cys)
|
|
|
NM_000089.4(COL1A2):c.2144G>T (p.Gly715Val)
|
|
|
NM_000089.4(COL1A2):c.2161G>T (p.Gly721Cys)
|
rs72658169
|
|
NM_000089.4(COL1A2):c.2179G>C (p.Gly727Arg)
|
|
|
NM_000089.4(COL1A2):c.2189G>T (p.Gly730Val)
|
rs1562905224
|
|
NM_000089.4(COL1A2):c.2198G>C (p.Gly733Ala)
|
rs2115931844
|
|
NM_000089.4(COL1A2):c.2225G>A (p.Gly742Glu)
|
rs2115931969
|
|
NM_000089.4(COL1A2):c.2233G>A (p.Gly745Arg)
|
|
|
NM_000089.4(COL1A2):c.2242G>A (p.Gly748Ser)
|
rs1562905246
|
|
NM_000089.4(COL1A2):c.226-2A>G
|
rs72656355
|
|
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)
|
rs72658177
|
|
NM_000089.4(COL1A2):c.2261G>A (p.Gly754Asp)
|
rs1554397621
|
|
NM_000089.4(COL1A2):c.2270G>A (p.Gly757Asp)
|
rs72658178
|
|
NM_000089.4(COL1A2):c.2279G>T (p.Gly760Val)
|
rs1792140624
|
|
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)
|
rs72658179
|
|
NM_000089.4(COL1A2):c.2295+5G>A
|
|
|
NM_000089.4(COL1A2):c.2297G>A (p.Gly766Asp)
|
|
|
NM_000089.4(COL1A2):c.2306G>T (p.Gly769Val)
|
rs72658184
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2314G>C (p.Gly772Arg)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)
|
rs1792148801
|
|
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.2402_2403insA (p.Gly802fs)
|
|
|
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val)
|
rs1562906013
|
|
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.2495G>A (p.Gly832Glu)
|
|
|
NM_000089.4(COL1A2):c.2504G>A (p.Gly835Asp)
|
rs2115941300
|
|
NM_000089.4(COL1A2):c.2504G>T (p.Gly835Val)
|
|
|
NM_000089.4(COL1A2):c.2512G>A (p.Gly838Ser)
|
rs1057516036
|
|
NM_000089.4(COL1A2):c.2533dup (p.Glu845fs)
|
rs1584328014
|
|
NM_000089.4(COL1A2):c.2558G>C (p.Gly853Ala)
|
|
|
NM_000089.4(COL1A2):c.2584G>A (p.Gly862Ser)
|
rs1554398126
|
|
NM_000089.4(COL1A2):c.2621G>C (p.Gly874Ala)
|
rs2115946490
|
|
NM_000089.4(COL1A2):c.2629G>A (p.Gly877Ser)
|
rs72658201
|
|
NM_000089.4(COL1A2):c.2657G>T (p.Gly886Val)
|
rs1562906570
|
|
NM_000089.4(COL1A2):c.2673G>A (p.Val891=)
|
rs1114167364
|
|
NM_000089.4(COL1A2):c.2675G>T (p.Gly892Val)
|
rs72659304
|
|
NM_000089.4(COL1A2):c.2693G>T (p.Gly898Val)
|
rs794727669
|
|
NM_000089.4(COL1A2):c.2701G>T (p.Gly901Cys)
|
rs72659306
|
|
NM_000089.4(COL1A2):c.2710G>C (p.Gly904Arg)
|
|
|
NM_000089.4(COL1A2):c.2711G>A (p.Gly904Glu)
|
rs775246283
|
|
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.2738G>T (p.Gly913Val)
|
rs886042129
|
|
NM_000089.4(COL1A2):c.279+3A>C
|
rs762201938
|
|
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.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.2837G>C (p.Gly946Ala)
|
|
|
NM_000089.4(COL1A2):c.2854G>A (p.Gly952Ser)
|
|
|
NM_000089.4(COL1A2):c.2864G>A (p.Gly955Asp)
|
rs2115952213
|
|
NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)
|
|
|
NM_000089.4(COL1A2):c.2900G>T (p.Gly967Val)
|
|
|
NM_000089.4(COL1A2):c.2935G>C (p.Gly979Arg)
|
rs2115952631
|
|
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.2989G>A (p.Gly997Ser)
|
rs1562907287
|
|
NM_000089.4(COL1A2):c.299G>A (p.Gly100Asp)
|
|
|
NM_000089.4(COL1A2):c.299G>T (p.Gly100Val)
|
rs1584315950
|
|
NM_000089.4(COL1A2):c.3026G>C (p.Gly1009Ala)
|
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.3070G>A (p.Gly1024Arg)
|
rs2115954840
|
|
NM_000089.4(COL1A2):c.308G>A (p.Gly103Asp)
|
|
|
NM_000089.4(COL1A2):c.3106-2del
|
rs193922166
|
|
NM_000089.4(COL1A2):c.3106G>T (p.Gly1036Cys)
|
rs72659325
|
|
NM_000089.4(COL1A2):c.3116G>A (p.Gly1039Asp)
|
rs72659326
|
|
NM_000089.4(COL1A2):c.3127G>A (p.Ala1043Thr)
|
|
|
NM_000089.4(COL1A2):c.3134G>A (p.Gly1045Asp)
|
rs2115957148
|
|
NM_000089.4(COL1A2):c.3142G>A (p.Gly1048Ser)
|
|
|
NM_000089.4(COL1A2):c.3152G>C (p.Gly1051Ala)
|
rs2115957255
|
|
NM_000089.4(COL1A2):c.3159+1G>A
|
|
|
NM_000089.4(COL1A2):c.3159G>A (p.Arg1053=)
|
|
|
NM_000089.4(COL1A2):c.3160-1G>C
|
|
|
NM_000089.4(COL1A2):c.3161G>T (p.Gly1054Val)
|
|
|
NM_000089.4(COL1A2):c.317G>A (p.Gly106Glu)
|
rs2115875189
|
|
NM_000089.4(COL1A2):c.3196G>A (p.Gly1066Ser)
|
rs1269193853
|
|
NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val)
|
rs1584330959
|
|
NM_000089.4(COL1A2):c.3233G>T (p.Gly1078Val)
|
|
|
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
|
rs1792298693
|
|
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.326G>A (p.Gly109Asp)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.326G>T (p.Gly109Val)
|
rs1114167416
|
|
NM_000089.4(COL1A2):c.3277G>T (p.Gly1093Cys)
|
|
|
NM_000089.4(COL1A2):c.3284del (p.Pro1095fs)
|
rs193922167
|
|
NM_000089.4(COL1A2):c.3305G>C (p.Gly1102Ala)
|
rs68063264
|
|
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.3355G>A (p.Ala1119Thr)
|
|
|
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)
|
rs193922168
|
|
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)
|
rs2115962248
|
|
NM_000089.4(COL1A2):c.3583_3597del (p.Cys1195_Thr1199del)
|
rs2115962258
|
|
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)
|
|
|
NM_000089.4(COL1A2):c.3765del (p.Phe1256fs)
|
rs1584332692
|
|
NM_000089.4(COL1A2):c.3793T>C (p.Ser1265Pro)
|
rs886044109
|
|
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.3987del (p.Ile1329fs)
|
rs1200377228
|
|
NM_000089.4(COL1A2):c.398G>T (p.Gly133Val)
|
rs1562899031
|
|
NM_000089.4(COL1A2):c.401del (p.Pro134fs)
|
rs1057518136
|
|
NM_000089.4(COL1A2):c.4060C>T (p.Gln1354Ter)
|
|
|
NM_000089.4(COL1A2):c.424G>A (p.Gly142Ser)
|
|
|
NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly)
|
rs1584316181
|
|
NM_000089.4(COL1A2):c.432+1G>A
|
rs1554395431
|
|
NM_000089.4(COL1A2):c.432+2T>A
|
rs2115876295
|
|
NM_000089.4(COL1A2):c.433-2A>G
|
rs1554395471
|
|
NM_000089.4(COL1A2):c.433-3T>G
|
rs1554395470
|
|
NM_000089.4(COL1A2):c.451G>A (p.Gly151Arg)
|
|
|
NM_000089.4(COL1A2):c.486+2T>G
|
rs2115877489
|
|
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.551G>A (p.Gly184Asp)
|
rs1791793398
|
|
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu)
|
rs72656369
|
|
NM_000089.4(COL1A2):c.594+1G>T
|
rs2115881240
|
|
NM_000089.4(COL1A2):c.595-2A>G
|
rs72656375
|
|
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)
|
rs1554395833
|
|
NM_000089.4(COL1A2):c.604G>A (p.Gly202Ser)
|
rs72656376
|
|
NM_000089.4(COL1A2):c.605G>T (p.Gly202Val)
|
rs72656377
|
|
NM_000089.4(COL1A2):c.614G>A (p.Gly205Asp)
|
|
|
NM_000089.4(COL1A2):c.614G>C (p.Gly205Ala)
|
|
|
NM_000089.4(COL1A2):c.659G>A (p.Gly220Asp)
|
|
|
NM_000089.4(COL1A2):c.670C>T (p.Arg224Cys)
|
|
|
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.713G>T (p.Gly238Val)
|
rs1188265845
|
|
NM_000089.4(COL1A2):c.731G>T (p.Gly244Val)
|
rs1584318303
|
|
NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)
|
|
|
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)
|
rs1064794058
|
|
NM_000089.4(COL1A2):c.749G>T (p.Gly250Val)
|
rs1562900513
|
|
NM_000089.4(COL1A2):c.752C>T (p.Ser251Phe)
|
rs1387151592
|
|
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)
|
rs67525025
|
|
NM_000089.4(COL1A2):c.776G>A (p.Gly259Asp)
|
rs1584318648
|
|
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.794G>T (p.Gly265Val)
|
rs72656386
|
|
NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg)
|
rs1584318953
|
|
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del)
|
rs1584318956
|
|
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)
|
|
|
NM_000089.4(COL1A2):c.842_859dup (p.Gly286_Leu287insProArgGlyGluValGly)
|
|
|
NM_000089.4(COL1A2):c.845GTG[1] (p.Gly283del)
|
rs193922175
|
|
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala)
|
rs67210352
|
|
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)
|
rs1131692167
|
|
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)
|
rs72656389
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
|
NM_000089.4(COL1A2):c.947G>A (p.Gly316Asp)
|
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000089.4(COL1A2):c.973G>C (p.Gly325Arg)
|
|
|
NM_000089.4(COL1A2):c.991G>A (p.Gly331Ser)
|
|
|