NM_000089.4(COL1A2):c.830G>C (p.Gly277Ala)
|
rs752431578
|
0.00003
|
NM_000089.4(COL1A2):c.2755G>A (p.Gly919Ser)
|
rs749621872
|
0.00002
|
NM_000089.4(COL1A2):c.2098G>T (p.Gly700Cys)
|
rs72658160
|
0.00001
|
NM_000089.4(COL1A2):c.2701G>A (p.Gly901Ser)
|
rs72659306
|
0.00001
|
NM_000089.4(COL1A2):c.2958del (p.Val987fs)
|
rs1064793527
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000089.4(COL1A2):c.389G>A (p.Gly130Asp)
|
rs72656360
|
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_000002.11:g.(?_189839216)_(190044330_?)del
|
|
|
NC_000002.12:g.(?_188974480)_(189580648_?)del
|
|
|
NC_000007.13:g.(?_94037139)_(94037712_?)dup
|
|
|
NC_000007.13:g.(?_94037139)_(94038155_?)dup
|
|
|
NC_000007.13:g.(?_94037531)_(94038117_?)del
|
|
|
NC_000007.14:g.(?_94395012)_(94395818_?)del
|
|
|
NC_000007.14:g.(?_94395012)_(94399104_?)del
|
|
|
NC_000007.14:g.94425611del
|
|
|
NC_000009.11:g.(?_137534024)_(137620663_?)del
|
|
|
NC_000009.11:g.(?_137534034)_(137582945_?)del
|
|
|
NC_000009.11:g.(?_137582748)_(137677904_?)del
|
|
|
NC_000009.11:g.(?_137591735)_(137593199_?)del
|
|
|
NC_000009.11:g.(?_137593011)_(137727056_?)del
|
|
|
NC_000009.11:g.(?_137619102)_(137698152_?)dup
|
|
|
NC_000009.11:g.(?_137645560)_137650136del
|
|
|
NC_000009.11:g.(?_137664616)_(137734149_?)del
|
|
|
NC_000009.11:g.(?_137709604)_(137717770_?)del
|
|
|
NC_000009.11:g.(?_137733983)_(137734149_?)del
|
|
|
NC_000009.12:g.(?_134642178)_(134701343_?)del
|
|
|
NC_000009.12:g.(?_134642178)_(134768473_?)del
|
|
|
NC_000009.12:g.(?_134690892)_(134763757_?)del
|
|
|
NC_000009.12:g.(?_134690902)_(134727407_?)del
|
|
|
NC_000009.12:g.(?_134699889)_(134700142_?)del
|
|
|
NC_000009.12:g.(?_134701171)_(134835204_?)del
|
|
|
NC_000009.12:g.(?_134752569)_(134752665_?)del
|
|
|
NC_000009.12:g.(?_134782657)_(134842313_?)del
|
|
|
NC_000009.12:g.134765683del
|
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
NM_000089.4(COL1A2):c.1009G>T (p.Gly337Cys)
|
|
|
NM_000089.4(COL1A2):c.1010G>C (p.Gly337Ala)
|
rs2115894285
|
|
NM_000089.4(COL1A2):c.1010G>T (p.Gly337Val)
|
|
|
NM_000089.4(COL1A2):c.1036-1G>T
|
|
|
NM_000089.4(COL1A2):c.1045G>A (p.Gly349Ser)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1045G>C (p.Gly349Arg)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1045G>T (p.Gly349Cys)
|
rs66773001
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)
|
rs1791894410
|
|
NM_000089.4(COL1A2):c.1099G>A (p.Gly367Arg)
|
|
|
NM_000089.4(COL1A2):c.1109G>T (p.Gly370Val)
|
rs72658104
|
|
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val)
|
rs67543427
|
|
NM_000089.4(COL1A2):c.1144G>A (p.Gly382Ser)
|
rs2115896730
|
|
NM_000089.4(COL1A2):c.1153G>C (p.Gly385Arg)
|
|
|
NM_000089.4(COL1A2):c.1154G>A (p.Gly385Glu)
|
|
|
NM_000089.4(COL1A2):c.1171G>A (p.Gly391Ser)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1171G>T (p.Gly391Cys)
|
rs67707918
|
|
NM_000089.4(COL1A2):c.1197+5G>A
|
rs68132885
|
|
NM_000089.4(COL1A2):c.1197+5G>C
|
|
|
NM_000089.4(COL1A2):c.1216G>A (p.Gly406Ser)
|
rs72658108
|
|
NM_000089.4(COL1A2):c.1270G>A (p.Gly424Ser)
|
rs72658112
|
|
NM_000089.4(COL1A2):c.1279G>A (p.Gly427Ser)
|
|
|
NM_000089.4(COL1A2):c.1289G>A (p.Gly430Glu)
|
rs1791913210
|
|
NM_000089.4(COL1A2):c.1324G>A (p.Gly442Arg)
|
rs1554396361
|
|
NM_000089.4(COL1A2):c.1342G>C (p.Gly448Arg)
|
rs1584320605
|
|
NM_000089.4(COL1A2):c.1378G>A (p.Gly460Ser)
|
rs72658118
|
|
NM_000089.4(COL1A2):c.1388G>C (p.Gly463Ala)
|
rs2115902837
|
|
NM_000089.4(COL1A2):c.1430del (p.Pro477fs)
|
|
|
NM_000089.4(COL1A2):c.1441G>C (p.Gly481Arg)
|
rs72658120
|
|
NM_000089.4(COL1A2):c.1459G>A (p.Gly487Arg)
|
rs1791952936
|
|
NM_000089.4(COL1A2):c.1478G>A (p.Gly493Glu)
|
rs72658121
|
|
NM_000089.4(COL1A2):c.1478G>T (p.Gly493Val)
|
|
|
NM_000089.4(COL1A2):c.1513G>A (p.Gly505Ser)
|
rs1554396679
|
|
NM_000089.4(COL1A2):c.1515del (p.Asn507fs)
|
|
|
NM_000089.4(COL1A2):c.1532G>A (p.Gly511Asp)
|
rs66999265
|
|
NM_000089.4(COL1A2):c.1541G>C (p.Gly514Ala)
|
rs1791962073
|
|
NM_000089.4(COL1A2):c.1549G>A (p.Gly517Ser)
|
|
|
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)
|
rs72658129
|
|
NM_000089.4(COL1A2):c.1630G>A (p.Gly544Ser)
|
|
|
NM_000089.4(COL1A2):c.1648G>A (p.Gly550Ser)
|
|
|
NM_000089.4(COL1A2):c.1666G>T (p.Gly556Cys)
|
rs1554396832
|
|
NM_000089.4(COL1A2):c.1675G>A (p.Gly559Ser)
|
|
|
NM_000089.4(COL1A2):c.1693G>A (p.Gly565Ser)
|
|
|
NM_000089.4(COL1A2):c.1694G>C (p.Gly565Ala)
|
rs794727470
|
|
NM_000089.4(COL1A2):c.1710dup (p.Gly571fs)
|
|
|
NM_000089.4(COL1A2):c.1748G>C (p.Gly583Ala)
|
rs1554396983
|
|
NM_000089.4(COL1A2):c.1757G>C (p.Gly586Ala)
|
rs121912907
|
|
NM_000089.4(COL1A2):c.1774G>A (p.Gly592Ser)
|
rs72658141
|
|
NM_000089.4(COL1A2):c.1801G>A (p.Gly601Ser)
|
rs72658143
|
|
NM_000089.4(COL1A2):c.1809del (p.Gly604fs)
|
rs1321582299
|
|
NM_000089.4(COL1A2):c.1846G>A (p.Gly616Arg)
|
|
|
NM_000089.4(COL1A2):c.1846G>C (p.Gly616Arg)
|
|
|
NM_000089.4(COL1A2):c.1863G>A (p.Lys621=)
|
|
|
NM_000089.4(COL1A2):c.1864G>T (p.Gly622Cys)
|
rs2115921275
|
|
NM_000089.4(COL1A2):c.1883G>A (p.Gly628Asp)
|
|
|
NM_000089.4(COL1A2):c.1892G>A (p.Gly631Asp)
|
rs1584324507
|
|
NM_000089.4(COL1A2):c.1892G>T (p.Gly631Val)
|
rs1584324507
|
|
NM_000089.4(COL1A2):c.1963G>A (p.Gly655Arg)
|
rs2115921786
|
|
NM_000089.4(COL1A2):c.1964G>A (p.Gly655Glu)
|
rs1554397275
|
|
NM_000089.4(COL1A2):c.1981G>C (p.Gly661Arg)
|
|
|
NM_000089.4(COL1A2):c.1981G>T (p.Gly661Cys)
|
rs72658152
|
|
NM_000089.4(COL1A2):c.1990G>C (p.Gly664Arg)
|
|
|
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
|
rs72658154
|
|
NM_000089.4(COL1A2):c.2018G>A (p.Gly673Asp)
|
rs2115924495
|
|
NM_000089.4(COL1A2):c.2026-1_2042dup
|
rs1584325529
|
|
NM_000089.4(COL1A2):c.2027G>A (p.Gly676Asp)
|
rs66883877
|
|
NM_000089.4(COL1A2):c.2038_2055dup (p.Gly685_Pro686insAlaValGlyAlaProGly)
|
|
|
NM_000089.4(COL1A2):c.2081G>A (p.Gly694Asp)
|
|
|
NM_000089.4(COL1A2):c.2098G>C (p.Gly700Arg)
|
rs72658160
|
|
NM_000089.4(COL1A2):c.2133+6T>A
|
rs72658164
|
|
NM_000089.4(COL1A2):c.2152G>A (p.Gly718Ser)
|
rs72658168
|
|
NM_000089.4(COL1A2):c.2188G>A (p.Gly730Ser)
|
rs72658171
|
|
NM_000089.4(COL1A2):c.2206G>T (p.Gly736Cys)
|
rs72658173
|
|
NM_000089.4(COL1A2):c.2215G>A (p.Gly739Arg)
|
rs72658174
|
|
NM_000089.4(COL1A2):c.2215G>C (p.Gly739Arg)
|
rs72658174
|
|
NM_000089.4(COL1A2):c.2251G>A (p.Gly751Ser)
|
rs72658176
|
|
NM_000089.4(COL1A2):c.2252G>T (p.Gly751Val)
|
rs1792139807
|
|
NM_000089.4(COL1A2):c.226-2A>G
|
rs72656355
|
|
NM_000089.4(COL1A2):c.2260G>T (p.Gly754Cys)
|
rs72658177
|
|
NM_000089.4(COL1A2):c.2278G>A (p.Gly760Arg)
|
rs1584326393
|
|
NM_000089.4(COL1A2):c.2288G>A (p.Gly763Asp)
|
rs72658179
|
|
NM_000089.4(COL1A2):c.2295+1G>A
|
|
|
NM_000089.4(COL1A2):c.2296G>A (p.Gly766Ser)
|
rs72658182
|
|
NM_000089.4(COL1A2):c.2296G>C (p.Gly766Arg)
|
rs72658182
|
|
NM_000089.4(COL1A2):c.2305G>A (p.Gly769Ser)
|
|
|
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
|
rs1792147522
|
|
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)
|
rs72658185
|
|
NM_000089.4(COL1A2):c.2323G>C (p.Gly775Arg)
|
rs2115933691
|
|
NM_000089.4(COL1A2):c.2324G>A (p.Gly775Glu)
|
rs1792148801
|
|
NM_000089.4(COL1A2):c.2330GTG[1] (p.Gly778del)
|
|
|
NM_000089.4(COL1A2):c.2341G>C (p.Gly781Arg)
|
rs1792149726
|
|
NM_000089.4(COL1A2):c.2348dup (p.Gly784fs)
|
|
|
NM_000089.4(COL1A2):c.2359G>T (p.Gly787Cys)
|
|
|
NM_000089.4(COL1A2):c.2360G>C (p.Gly787Ala)
|
rs2115936945
|
|
NM_000089.4(COL1A2):c.2387G>C (p.Gly796Ala)
|
rs72658189
|
|
NM_000089.4(COL1A2):c.2413G>T (p.Gly805Cys)
|
rs72658190
|
|
NM_000089.4(COL1A2):c.2422G>A (p.Gly808Ser)
|
rs763053421
|
|
NM_000089.4(COL1A2):c.2431G>A (p.Gly811Ser)
|
rs2115940948
|
|
NM_000089.4(COL1A2):c.2521G>A (p.Gly841Ser)
|
rs72658194
|
|
NM_000089.4(COL1A2):c.2539G>A (p.Gly847Ser)
|
|
|
NM_000089.4(COL1A2):c.2565+1G>A
|
rs72658198
|
|
NM_000089.4(COL1A2):c.2565+1G>C
|
rs72658198
|
|
NM_000089.4(COL1A2):c.2565+2T>A
|
rs2115941689
|
|
NM_000089.4(COL1A2):c.2565+3_2565+6del
|
rs1584328061
|
|
NM_000089.4(COL1A2):c.2576G>A (p.Gly859Asp)
|
|
|
NM_000089.4(COL1A2):c.2603G>C (p.Gly868Ala)
|
rs2115946426
|
|
NM_000089.4(COL1A2):c.2674-3T>G
|
rs72659303
|
|
NM_000089.4(COL1A2):c.2675G>A (p.Gly892Asp)
|
rs72659304
|
|
NM_000089.4(COL1A2):c.2711G>T (p.Gly904Val)
|
|
|
NM_000089.4(COL1A2):c.2719G>A (p.Gly907Ser)
|
rs1554398251
|
|
NM_000089.4(COL1A2):c.271G>T (p.Gly91Ter)
|
rs764355552
|
|
NM_000089.4(COL1A2):c.2746G>A (p.Gly916Arg)
|
rs72659308
|
|
NM_000089.4(COL1A2):c.2755G>T (p.Gly919Cys)
|
rs749621872
|
|
NM_000089.4(COL1A2):c.2756G>A (p.Gly919Asp)
|
rs1554398261
|
|
NM_000089.4(COL1A2):c.279+2T>C
|
rs72656357
|
|
NM_000089.4(COL1A2):c.2791G>A (p.Gly931Arg)
|
rs1792256171
|
|
NM_000089.4(COL1A2):c.279G>A (p.Met93Ile)
|
rs72656356
|
|
NM_000089.4(COL1A2):c.2819G>T (p.Gly940Val)
|
rs1792257312
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.2835+1G>A
|
rs72659310
|
|
NM_000089.4(COL1A2):c.2835+1G>T
|
|
|
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)
|
rs72659312
|
|
NM_000089.4(COL1A2):c.2882G>A (p.Gly961Asp)
|
|
|
NM_000089.4(COL1A2):c.2918G>A (p.Gly973Asp)
|
|
|
NM_000089.4(COL1A2):c.2944G>A (p.Gly982Ser)
|
rs1792269292
|
|
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser)
|
rs72659319
|
|
NM_000089.4(COL1A2):c.3124G>A (p.Gly1042Ser)
|
rs72659327
|
|
NM_000089.4(COL1A2):c.3143G>A (p.Gly1048Asp)
|
|
|
NM_000089.4(COL1A2):c.3170G>A (p.Gly1057Asp)
|
rs2115957747
|
|
NM_000089.4(COL1A2):c.3233G>A (p.Gly1078Asp)
|
rs72659332
|
|
NM_000089.4(COL1A2):c.3238C>T (p.Arg1080Ter)
|
rs780395429
|
|
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
|
rs1792298693
|
|
NM_000089.4(COL1A2):c.3276del (p.Gly1093fs)
|
rs1173518955
|
|
NM_000089.4(COL1A2):c.3277G>C (p.Gly1093Arg)
|
rs2115959456
|
|
NM_000089.4(COL1A2):c.3286G>A (p.Gly1096Ser)
|
rs1792308325
|
|
NM_000089.4(COL1A2):c.3287G>A (p.Gly1096Asp)
|
|
|
NM_000089.4(COL1A2):c.3305G>A (p.Gly1102Asp)
|
|
|
NM_000089.4(COL1A2):c.3358G>A (p.Asp1120Asn)
|
rs2115959912
|
|
NM_000089.4(COL1A2):c.3359A>G (p.Asp1120Gly)
|
rs2115959926
|
|
NM_000089.4(COL1A2):c.335G>A (p.Gly112Asp)
|
rs1791759246
|
|
NM_000089.4(COL1A2):c.343G>A (p.Gly115Arg)
|
rs1791759301
|
|
NM_000089.4(COL1A2):c.3495C>G (p.Asp1165Glu)
|
rs72659340
|
|
NM_000089.4(COL1A2):c.353G>A (p.Gly118Asp)
|
|
|
NM_000089.4(COL1A2):c.353G>T (p.Gly118Val)
|
rs72656358
|
|
NM_000089.4(COL1A2):c.3583T>A (p.Cys1195Ser)
|
|
|
NM_000089.4(COL1A2):c.3583T>C (p.Cys1195Arg)
|
rs2115962248
|
|
NM_000089.4(COL1A2):c.3584G>C (p.Cys1195Ser)
|
|
|
NM_000089.4(COL1A2):c.362G>A (p.Gly121Asp)
|
rs2115875700
|
|
NM_000089.4(COL1A2):c.3815G>T (p.Cys1272Phe)
|
rs1554398835
|
|
NM_000089.4(COL1A2):c.389G>T (p.Gly130Val)
|
rs72656360
|
|
NM_000089.4(COL1A2):c.402_413del (p.Ala135_Pro138del)
|
|
|
NM_000089.4(COL1A2):c.407G>A (p.Gly136Asp)
|
rs1057524847
|
|
NM_000089.4(COL1A2):c.432+1G>A
|
rs1554395431
|
|
NM_000089.4(COL1A2):c.432+1G>C
|
|
|
NM_000089.4(COL1A2):c.432+1G>T
|
rs1554395431
|
|
NM_000089.4(COL1A2):c.432+4_432+7del
|
rs72656363
|
|
NM_000089.4(COL1A2):c.432+5G>A
|
rs72656364
|
|
NM_000089.4(COL1A2):c.433-1G>C
|
|
|
NM_000089.4(COL1A2):c.433-2A>C
|
rs1554395471
|
|
NM_000089.4(COL1A2):c.434G>A (p.Gly145Asp)
|
|
|
NM_000089.4(COL1A2):c.454C>T (p.Arg152Ter)
|
rs1791771616
|
|
NM_000089.4(COL1A2):c.478G>A (p.Gly160Arg)
|
|
|
NM_000089.4(COL1A2):c.486+1G>A
|
|
|
NM_000089.4(COL1A2):c.487-4_501del
|
rs74315146
|
|
NM_000089.4(COL1A2):c.542G>A (p.Gly181Glu)
|
|
|
NM_000089.4(COL1A2):c.569G>A (p.Gly190Glu)
|
rs72656369
|
|
NM_000089.4(COL1A2):c.569G>T (p.Gly190Val)
|
|
|
NM_000089.4(COL1A2):c.577G>A (p.Gly193Ser)
|
rs72656370
|
|
NM_000089.4(COL1A2):c.577G>C (p.Gly193Arg)
|
|
|
NM_000089.4(COL1A2):c.586G>A (p.Gly196Ser)
|
rs1057517953
|
|
NM_000089.4(COL1A2):c.586G>C (p.Gly196Arg)
|
|
|
NM_000089.4(COL1A2):c.586G>T (p.Gly196Cys)
|
rs1057517953
|
|
NM_000089.4(COL1A2):c.587G>A (p.Gly196Asp)
|
|
|
NM_000089.4(COL1A2):c.587G>T (p.Gly196Val)
|
|
|
NM_000089.4(COL1A2):c.594+1G>T
|
rs2115881240
|
|
NM_000089.4(COL1A2):c.605G>A (p.Gly202Asp)
|
rs72656377
|
|
NM_000089.4(COL1A2):c.632G>A (p.Gly211Asp)
|
rs72656378
|
|
NM_000089.4(COL1A2):c.693+1G>A
|
|
|
NM_000089.4(COL1A2):c.693+1G>C
|
rs72656381
|
|
NM_000089.4(COL1A2):c.693+2T>C
|
rs66516450
|
|
NM_000089.4(COL1A2):c.694-1G>C
|
|
|
NM_000089.4(COL1A2):c.731G>A (p.Gly244Asp)
|
rs1584318303
|
|
NM_000089.4(COL1A2):c.739G>C (p.Gly247Arg)
|
|
|
NM_000089.4(COL1A2):c.767G>A (p.Gly256Asp)
|
rs67525025
|
|
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)
|
rs67525025
|
|
NM_000089.4(COL1A2):c.792G>A (p.Lys264=)
|
rs2115890442
|
|
NM_000089.4(COL1A2):c.793G>C (p.Gly265Arg)
|
rs1114167417
|
|
NM_000089.4(COL1A2):c.794G>A (p.Gly265Asp)
|
rs72656386
|
|
NM_000089.4(COL1A2):c.794G>T (p.Gly265Val)
|
rs72656386
|
|
NM_000089.4(COL1A2):c.812G>A (p.Gly271Asp)
|
|
|
NM_000089.4(COL1A2):c.821G>A (p.Gly274Asp)
|
rs67675951
|
|
NM_000089.4(COL1A2):c.830G>T (p.Gly277Val)
|
rs752431578
|
|
NM_000089.4(COL1A2):c.838G>T (p.Gly280Cys)
|
|
|
NM_000089.4(COL1A2):c.839G>C (p.Gly280Ala)
|
|
|
NM_000089.4(COL1A2):c.856G>A (p.Gly286Ser)
|
rs1114167418
|
|
NM_000089.4(COL1A2):c.856G>T (p.Gly286Cys)
|
|
|
NM_000089.4(COL1A2):c.857G>C (p.Gly286Ala)
|
rs67210352
|
|
NM_000089.4(COL1A2):c.874G>A (p.Gly292Ser)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.874G>C (p.Gly292Arg)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.874G>T (p.Gly292Cys)
|
rs906553840
|
|
NM_000089.4(COL1A2):c.875G>T (p.Gly292Val)
|
rs1131692167
|
|
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)
|
rs72656389
|
|
NM_000089.4(COL1A2):c.893G>T (p.Gly298Val)
|
|
|
NM_000089.4(COL1A2):c.901G>A (p.Gly301Arg)
|
rs2115893133
|
|
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)
|
rs1054264002
|
|
NM_000089.4(COL1A2):c.920G>A (p.Gly307Asp)
|
rs72656390
|
|
NM_000089.4(COL1A2):c.929G>T (p.Gly310Val)
|
|
|
NM_000089.4(COL1A2):c.937G>T (p.Gly313Cys)
|
|
|
NM_000089.4(COL1A2):c.956G>A (p.Gly319Glu)
|
rs1554396083
|
|
NM_000089.4(COL1A2):c.964G>A (p.Gly322Ser)
|
rs72656394
|
|
NM_000089.4(COL1A2):c.974G>T (p.Gly325Val)
|
|
|
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser)
|
rs66612022
|
|
NM_000093.4(COL5A1):c.2389delG
|
rs1564453833
|
|
NM_000093.4(COL5A1):c.2594dup
|
rs1837444858
|
|
NM_000093.4(COL5A1):c.3746delG
|
rs35002351
|
|
NM_000093.4(COL5A1):c.4232delG
|
rs1060502259
|
|
NM_000093.5(COL5A1):c.105del (p.Ala36fs)
|
rs2132455125
|
|
NM_000093.5(COL5A1):c.1075G>T (p.Glu359Ter)
|
rs769752636
|
|
NM_000093.5(COL5A1):c.1094_1095del (p.Asp365fs)
|
rs1834837756
|
|
NM_000093.5(COL5A1):c.109G>C (p.Ala37Pro)
|
rs2132455136
|
|
NM_000093.5(COL5A1):c.1114_1115del (p.Ala372fs)
|
|
|
NM_000093.5(COL5A1):c.1194_1196delinsG (p.Asp398fs)
|
rs1834879370
|
|
NM_000093.5(COL5A1):c.1364del (p.Lys455fs)
|
rs1564418237
|
|
NM_000093.5(COL5A1):c.1503del (p.Gly502fs)
|
rs1554792011
|
|
NM_000093.5(COL5A1):c.1611dup (p.Met538fs)
|
|
|
NM_000093.5(COL5A1):c.1628_1630dup (p.Ser544Ter)
|
rs2132683271
|
|
NM_000093.5(COL5A1):c.1630del (p.Ser544fs)
|
rs2132683277
|
|
NM_000093.5(COL5A1):c.1639C>T (p.Gln547Ter)
|
rs201625736
|
|
NM_000093.5(COL5A1):c.1654C>T (p.Gln552Ter)
|
|
|
NM_000093.5(COL5A1):c.1720-136_1929del
|
|
|
NM_000093.5(COL5A1):c.1727del (p.Pro576fs)
|
rs1488498065
|
|
NM_000093.5(COL5A1):c.1728del (p.Ser578fs)
|
rs2132689832
|
|
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter)
|
rs1554792869
|
|
NM_000093.5(COL5A1):c.1789C>T (p.Gln597Ter)
|
rs2132690786
|
|
NM_000093.5(COL5A1):c.1937_1946del
|
rs2132717812
|
|
NM_000093.5(COL5A1):c.196C>T (p.Arg66Ter)
|
rs1833258579
|
|
NM_000093.5(COL5A1):c.1989+1G>C
|
rs1836462685
|
|
NM_000093.5(COL5A1):c.1A>G (p.Met1Val)
|
rs2132454722
|
|
NM_000093.5(COL5A1):c.2034+1G>A
|
rs886042173
|
|
NM_000093.5(COL5A1):c.2140C>T (p.Gln714Ter)
|
rs1554796176
|
|
NM_000093.5(COL5A1):c.2143G>T (p.Gly715Ter)
|
rs1060502258
|
|
NM_000093.5(COL5A1):c.2159del (p.Pro720fs)
|
rs863223469
|
|
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)
|
rs863223469
|
|
NM_000093.5(COL5A1):c.2164C>T (p.Gln722Ter)
|
rs1564446117
|
|
NM_000093.5(COL5A1):c.2177del (p.Pro726fs)
|
|
|
NM_000093.5(COL5A1):c.225_226del (p.Tyr75_Arg76delinsTer)
|
|
|
NM_000093.5(COL5A1):c.228_229del (p.Arg76fs)
|
rs1060502242
|
|
NM_000093.5(COL5A1):c.2312delinsTGGCAAAGA (p.Pro771fs)
|
|
|
NM_000093.5(COL5A1):c.2374C>T (p.Arg792Ter)
|
rs121912933
|
|
NM_000093.5(COL5A1):c.2386-3C>G
|
rs1564453831
|
|
NM_000093.5(COL5A1):c.2425G>T (p.Glu809Ter)
|
rs1032017865
|
|
NM_000093.5(COL5A1):c.2430+1G>A
|
rs1060502248
|
|
NM_000093.5(COL5A1):c.2430+1G>C
|
|
|
NM_000093.5(COL5A1):c.2553del (p.Asn852fs)
|
rs1837406273
|
|
NM_000093.5(COL5A1):c.2565del (p.Gly856fs)
|
rs1564457102
|
|
NM_000093.5(COL5A1):c.265C>T (p.Gln89Ter)
|
rs1833261804
|
|
NM_000093.5(COL5A1):c.2660del (p.Phe887fs)
|
rs1588551159
|
|
NM_000093.5(COL5A1):c.2701-25T>G
|
rs765079080
|
|
NM_000093.5(COL5A1):c.2730dup (p.Gln911fs)
|
rs2132802457
|
|
NM_000093.5(COL5A1):c.2734C>T (p.Arg912Ter)
|
rs863223478
|
|
NM_000093.5(COL5A1):c.2897del (p.Pro966fs)
|
rs1179967153
|
|
NM_000093.5(COL5A1):c.2918dup (p.Leu974fs)
|
|
|
NM_000093.5(COL5A1):c.2925_2926dup (p.Gly976fs)
|
|
|
NM_000093.5(COL5A1):c.2952+1G>C
|
|
|
NM_000093.5(COL5A1):c.2952+2_2952+3del
|
rs1588562135
|
|
NM_000093.5(COL5A1):c.297_304dup (p.Ile102fs)
|
rs1588448655
|
|
NM_000093.5(COL5A1):c.2988del (p.Gly997fs)
|
rs764693725
|
|
NM_000093.5(COL5A1):c.2988dup (p.Gly997fs)
|
rs764693725
|
|
NM_000093.5(COL5A1):c.2T>G (p.Met1Arg)
|
|
|
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs)
|
rs863223473
|
|
NM_000093.5(COL5A1):c.3184C>T (p.Arg1062Ter)
|
rs387906606
|
|
NM_000093.5(COL5A1):c.321del (p.Ala108fs)
|
rs2132569651
|
|
NM_000093.5(COL5A1):c.3272del (p.Glu1091fs)
|
|
|
NM_000093.5(COL5A1):c.3297del (p.Ile1101fs)
|
rs1838291478
|
|
NM_000093.5(COL5A1):c.3309_3325dup (p.Pro1109fs)
|
rs1564471440
|
|
NM_000093.5(COL5A1):c.3317_3333del (p.Arg1106fs)
|
|
|
NM_000093.5(COL5A1):c.337C>T (p.Gln113Ter)
|
rs2132569692
|
|
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)
|
rs886042045
|
|
NM_000093.5(COL5A1):c.3443dup (p.Val1149fs)
|
|
|
NM_000093.5(COL5A1):c.3455dup (p.Gly1153fs)
|
rs2132838808
|
|
NM_000093.5(COL5A1):c.3514dup (p.Asp1172fs)
|
rs2132841152
|
|
NM_000093.5(COL5A1):c.3553C>T (p.Gln1185Ter)
|
|
|
NM_000093.5(COL5A1):c.3566del (p.Gly1189fs)
|
|
|
NM_000093.5(COL5A1):c.3613C>T (p.Gln1205Ter)
|
rs2132844990
|
|
NM_000093.5(COL5A1):c.3631C>T (p.Gln1211Ter)
|
rs1307084213
|
|
NM_000093.5(COL5A1):c.3671dup (p.Gly1225fs)
|
rs2132845192
|
|
NM_000093.5(COL5A1):c.3684del (p.Leu1229fs)
|
rs1564475090
|
|
NM_000093.5(COL5A1):c.3752del (p.Pro1251fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000093.5(COL5A1):c.3769C>T (p.Arg1257Ter)
|
rs748870349
|
|
NM_000093.5(COL5A1):c.3772G>T (p.Gly1258Ter)
|
|
|
NM_000093.5(COL5A1):c.3788del (p.Pro1263fs)
|
|
|
NM_000093.5(COL5A1):c.3805C>T (p.Gln1269Ter)
|
rs1554805142
|
|
NM_000093.5(COL5A1):c.3833_3846del (p.Pro1278fs)
|
rs2132848313
|
|
NM_000093.5(COL5A1):c.3G>T (p.Met1Ile)
|
|
|
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs)
|
rs758337699
|
|
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=)
|
rs863223452
|
|
NM_000093.5(COL5A1):c.4088del (p.Gly1363fs)
|
rs2132856138
|
|
NM_000093.5(COL5A1):c.4114G>A (p.Gly1372Arg)
|
rs1838729952
|
|
NM_000093.5(COL5A1):c.4126dup (p.Ser1376fs)
|
rs1131691820
|
|
NM_000093.5(COL5A1):c.4203del (p.Gly1402fs)
|
rs1060502255
|
|
NM_000093.5(COL5A1):c.4214del (p.Gly1405fs)
|
|
|
NM_000093.5(COL5A1):c.4266_4285del (p.Ile1425fs)
|
|
|
NM_000093.5(COL5A1):c.4282del (p.Gln1428fs)
|
rs2132864123
|
|
NM_000093.5(COL5A1):c.4318C>T (p.Arg1440Ter)
|
rs2132864295
|
|
NM_000093.5(COL5A1):c.4370del (p.Pro1457fs)
|
|
|
NM_000093.5(COL5A1):c.4383dup (p.Gly1462fs)
|
rs2132864817
|
|
NM_000093.5(COL5A1):c.4385del (p.Gly1462fs)
|
rs2132864836
|
|
NM_000093.5(COL5A1):c.4389del (p.Met1464fs)
|
rs2132864849
|
|
NM_000093.5(COL5A1):c.4415_4416insTTTG (p.Lys1473fs)
|
|
|
NM_000093.5(COL5A1):c.4474G>A (p.Gly1492Ser)
|
rs863223458
|
|
NM_000093.5(COL5A1):c.4476TCC[1] (p.Pro1494del)
|
rs1838936100
|
|
NM_000093.5(COL5A1):c.4525C>T (p.Gln1509Ter)
|
|
|
NM_000093.5(COL5A1):c.4545_4549dup (p.Glu1517fs)
|
rs1588589663
|
|
NM_000093.5(COL5A1):c.456C>A (p.Tyr152Ter)
|
|
|
NM_000093.5(COL5A1):c.4598dup (p.Gly1534fs)
|
|
|
NM_000093.5(COL5A1):c.4599del (p.Gly1534fs)
|
|
|
NM_000093.5(COL5A1):c.4604dup (p.Pro1536fs)
|
rs2132874649
|
|
NM_000093.5(COL5A1):c.4628del (p.Gly1543fs)
|
rs1839084095
|
|
NM_000093.5(COL5A1):c.4656_4660del (p.Pro1553fs)
|
rs1554807812
|
|
NM_000093.5(COL5A1):c.4673dup (p.His1559fs)
|
|
|
NM_000093.5(COL5A1):c.4693_4694insT (p.Pro1565fs)
|
|
|
NM_000093.5(COL5A1):c.4697dup (p.Glu1571fs)
|
rs1131691996
|
|
NM_000093.5(COL5A1):c.4714del (p.Val1572fs)
|
rs2132883536
|
|
NM_000093.5(COL5A1):c.4738del (p.Ala1580fs)
|
|
|
NM_000093.5(COL5A1):c.4836_4854del (p.Phe1612fs)
|
rs2132884146
|
|
NM_000093.5(COL5A1):c.4909del (p.Arg1637fs)
|
rs1564487306
|
|
NM_000093.5(COL5A1):c.4927C>T (p.Gln1643Ter)
|
rs1219304070
|
|
NM_000093.5(COL5A1):c.494G>A (p.Trp165Ter)
|
rs1588449879
|
|
NM_000093.5(COL5A1):c.495G>A (p.Trp165Ter)
|
|
|
NM_000093.5(COL5A1):c.4962C>A (p.Tyr1654Ter)
|
|
|
NM_000093.5(COL5A1):c.5012G>A (p.Cys1671Tyr)
|
rs1554808357
|
|
NM_000093.5(COL5A1):c.5032dup (p.Ser1678fs)
|
rs2132887783
|
|
NM_000093.5(COL5A1):c.5084G>A (p.Trp1695Ter)
|
|
|
NM_000093.5(COL5A1):c.5155G>T (p.Glu1719Ter)
|
rs776640704
|
|
NM_000093.5(COL5A1):c.5175_5200dup (p.Leu1734delinsArgTyrArgTer)
|
rs2132925550
|
|
NM_000093.5(COL5A1):c.5218C>T (p.Gln1740Ter)
|
rs2132925640
|
|
NM_000093.5(COL5A1):c.5229_5230del (p.Tyr1744fs)
|
rs2132925682
|
|
NM_000093.5(COL5A1):c.5241C>G (p.Tyr1747Ter)
|
|
|
NM_000093.5(COL5A1):c.5293dup (p.Arg1765fs)
|
rs1839803841
|
|
NM_000093.5(COL5A1):c.5299del (p.Leu1767fs)
|
rs1554726279
|
|
NM_000093.5(COL5A1):c.5317del (p.Glu1773fs)
|
rs1554726283
|
|
NM_000093.5(COL5A1):c.5319_5320dup (p.Met1774fs)
|
|
|
NM_000093.5(COL5A1):c.5336_5337delinsG (p.Asn1779fs)
|
rs1588615658
|
|
NM_000093.5(COL5A1):c.5340dup (p.Tyr1781fs)
|
rs2132926166
|
|
NM_000093.5(COL5A1):c.5370+3_5370+6del
|
rs786200923
|
|
NM_000093.5(COL5A1):c.5377_5380del (p.Lys1793fs)
|
rs1830124408
|
|
NM_000093.5(COL5A1):c.5386C>T (p.Gln1796Ter)
|
rs1588621711
|
|
NM_000093.5(COL5A1):c.5415del (p.Val1807fs)
|
rs2132943031
|
|
NM_000093.5(COL5A1):c.5417_5420dup (p.Glu1808fs)
|
|
|
NM_000093.5(COL5A1):c.5425C>T (p.Gln1809Ter)
|
rs2132943056
|
|
NM_000093.5(COL5A1):c.5498dup (p.Ala1834fs)
|
rs1564191704
|
|
NM_000093.5(COL5A1):c.643G>T (p.Glu215Ter)
|
rs2132573338
|
|
NM_000093.5(COL5A1):c.708C>A (p.Tyr236Ter)
|
|
|
NM_000093.5(COL5A1):c.74T>G (p.Leu25Arg)
|
rs1831316527
|
|
NM_000093.5(COL5A1):c.761C>A (p.Ser254Ter)
|
rs144844792
|
|
NM_000093.5(COL5A1):c.786+1G>A
|
|
|
NM_000093.5(COL5A1):c.786+5G>A
|
rs2132632978
|
|
NM_000093.5(COL5A1):c.849del (p.Glu284fs)
|
rs1588477255
|
|
NM_000093.5(COL5A1):c.865G>T (p.Glu289Ter)
|
|
|
NM_000093.5(COL5A1):c.876dup (p.Ser293fs)
|
rs1834751333
|
|
NM_000093.5(COL5A1):c.904G>T (p.Glu302Ter)
|
rs1554787811
|
|
NM_000393.5(COL5A2):c.1066C>T (p.Arg356Ter)
|
|
|
NM_000393.5(COL5A2):c.1402-2A>G
|
|
|
NM_000393.5(COL5A2):c.1924-4C>G
|
rs1559085578
|
|
NM_000393.5(COL5A2):c.1977G>A (p.Pro659=)
|
rs863223491
|
|
NM_000393.5(COL5A2):c.2137C>T (p.Arg713Ter)
|
|
|
NM_000393.5(COL5A2):c.2769+2dup
|
|
|
NM_000393.5(COL5A2):c.2919dup (p.Asp974fs)
|
rs1685782021
|
|
NM_000393.5(COL5A2):c.3147+1G>A
|
rs1685734160
|
|
NM_000393.5(COL5A2):c.3201+1G>T
|
|
|
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=)
|
rs878853978
|
|
NM_000393.5(COL5A2):c.3406C>T (p.Arg1136Ter)
|
|
|
NM_000393.5(COL5A2):c.386del (p.Gly129fs)
|
rs2105686874
|
|
NM_000393.5(COL5A2):c.387del (p.Arg130fs)
|
rs2105686869
|
|
NM_000393.5(COL5A2):c.690+5G>T
|
rs1576517517
|
|
NM_000393.5(COL5A2):c.971G>A (p.Gly324Asp)
|
rs2105632746
|
|
NM_001278074.1(COL5A1):c.3206dup (p.Ala1070Serfs)
|
rs1554803622
|
|