NM_001379500.1(COL18A1):c.693G>A (p.Val231=)
|
rs149772252
|
0.00108
|
NM_001379500.1(COL18A1):c.107-11498C>T
|
rs549345311
|
0.00107
|
NM_001379500.1(COL18A1):c.691G>A (p.Val231Met)
|
rs202012055
|
0.00106
|
NM_001379500.1(COL18A1):c.1707C>T (p.Ser569=)
|
rs559725056
|
0.00105
|
NM_001379500.1(COL18A1):c.1905C>T (p.Pro635=)
|
rs199523495
|
0.00089
|
NM_001379500.1(COL18A1):c.1760C>T (p.Ala587Val)
|
rs199823547
|
0.00081
|
NM_001379500.1(COL18A1):c.2490C>T (p.Ser830=)
|
rs377601838
|
0.00081
|
NM_001379500.1(COL18A1):c.2158-9C>T
|
rs200143450
|
0.00074
|
NM_001379500.1(COL18A1):c.2478G>A (p.Pro826=)
|
rs369390092
|
0.00071
|
NM_001379500.1(COL18A1):c.107-12210C>G
|
rs201773944
|
0.00068
|
NM_001379500.1(COL18A1):c.1882G>A (p.Ala628Thr)
|
rs181012655
|
0.00066
|
NM_001379500.1(COL18A1):c.107-12197G>A
|
rs200284308
|
0.00063
|
NM_001379500.1(COL18A1):c.743C>T (p.Ser248Phe)
|
rs200073359
|
0.00053
|
NM_001379500.1(COL18A1):c.1292T>C (p.Val431Ala)
|
rs201414473
|
0.00046
|
NM_001379500.1(COL18A1):c.1051C>T (p.Pro351Ser)
|
rs370176315
|
0.00042
|
NM_001379500.1(COL18A1):c.1542C>T (p.Asp514=)
|
rs200106008
|
0.00037
|
NM_001379500.1(COL18A1):c.1687G>A (p.Ala563Thr)
|
rs201476017
|
0.00029
|
NM_001379500.1(COL18A1):c.1435G>A (p.Asp479Asn)
|
rs369917403
|
0.00027
|
NM_001379500.1(COL18A1):c.1453-6G>A
|
rs200886865
|
0.00025
|
NM_001379500.1(COL18A1):c.451G>A (p.Ala151Thr)
|
rs201833726
|
0.00025
|
NM_001379500.1(COL18A1):c.2068-7C>T
|
rs369084150
|
0.00024
|
NM_001379500.1(COL18A1):c.801C>T (p.Gly267=)
|
rs145912433
|
0.00024
|
NM_001379500.1(COL18A1):c.1615C>T (p.Pro539Ser)
|
rs375417533
|
0.00023
|
NM_001379500.1(COL18A1):c.1452G>T (p.Arg484=)
|
rs373106775
|
0.00021
|
NM_001379500.1(COL18A1):c.911C>T (p.Thr304Met)
|
rs200230216
|
0.00021
|
NM_001379500.1(COL18A1):c.1323G>A (p.Gly441=)
|
rs201380467
|
0.00020
|
NM_001379500.1(COL18A1):c.1261C>T (p.Pro421Ser)
|
rs375265466
|
0.00019
|
NM_001379500.1(COL18A1):c.1594G>A (p.Gly532Arg)
|
rs761342635
|
0.00019
|
NM_001379500.1(COL18A1):c.1225G>A (p.Asp409Asn)
|
rs200553372
|
0.00018
|
NM_001379500.1(COL18A1):c.1822C>G (p.Pro608Ala)
|
rs757423924
|
0.00018
|
NM_001379500.1(COL18A1):c.714C>T (p.Asp238=)
|
rs369721525
|
0.00018
|
NM_001379500.1(COL18A1):c.1311+5G>C
|
rs200610309
|
0.00017
|
NM_001379500.1(COL18A1):c.1659G>A (p.Gly553=)
|
rs768751253
|
0.00016
|
NM_001379500.1(COL18A1):c.2623A>G (p.Asn875Asp)
|
rs371993501
|
0.00016
|
NM_001379500.1(COL18A1):c.2568C>T (p.Tyr856=)
|
rs376919554
|
0.00014
|
NM_001379500.1(COL18A1):c.578G>A (p.Arg193Gln)
|
rs2236453
|
0.00014
|
NM_001379500.1(COL18A1):c.613G>A (p.Val205Met)
|
rs201116208
|
0.00014
|
NM_001379500.1(COL18A1):c.107-11514G>A
|
rs780737161
|
0.00013
|
NM_001379500.1(COL18A1):c.1628C>T (p.Pro543Leu)
|
rs770190035
|
0.00013
|
NM_001379500.1(COL18A1):c.873G>A (p.Thr291=)
|
rs183924183
|
0.00013
|
NM_001379500.1(COL18A1):c.1248G>A (p.Pro416=)
|
rs185296216
|
0.00012
|
NM_001379500.1(COL18A1):c.1008C>T (p.Gly336=)
|
rs372133935
|
0.00011
|
NM_001379500.1(COL18A1):c.2380-3C>T
|
rs375708543
|
0.00011
|
NM_001379500.1(COL18A1):c.2596C>T (p.Arg866Cys)
|
rs372312684
|
0.00011
|
NM_001379500.1(COL18A1):c.2057G>A (p.Arg686Gln)
|
rs367841049
|
0.00010
|
NM_001379500.1(COL18A1):c.2388C>T (p.Tyr796=)
|
rs139122081
|
0.00010
|
NM_001379500.1(COL18A1):c.532G>A (p.Val178Met)
|
rs780717066
|
0.00010
|
NM_001379500.1(COL18A1):c.107-12105G>C
|
rs771686771
|
0.00009
|
NM_001379500.1(COL18A1):c.107-12179C>T
|
rs753055018
|
0.00009
|
NM_001379500.1(COL18A1):c.1159G>A (p.Gly387Arg)
|
rs755070737
|
0.00009
|
NM_001379500.1(COL18A1):c.1825G>A (p.Ala609Thr)
|
rs552119369
|
0.00009
|
NM_001379500.1(COL18A1):c.1852G>A (p.Gly618Arg)
|
rs368967629
|
0.00009
|
NM_001379500.1(COL18A1):c.187G>A (p.Asp63Asn)
|
rs377002382
|
0.00009
|
NM_001379500.1(COL18A1):c.1913C>T (p.Pro638Leu)
|
rs746540372
|
0.00009
|
NM_001379500.1(COL18A1):c.2214C>T (p.Pro738=)
|
rs199910738
|
0.00009
|
NM_001379500.1(COL18A1):c.926G>C (p.Gly309Ala)
|
rs372726135
|
0.00009
|
NM_001379500.1(COL18A1):c.107-11679G>A
|
rs557050550
|
0.00008
|
NM_001379500.1(COL18A1):c.1096C>T (p.Pro366Ser)
|
rs377028409
|
0.00008
|
NM_001379500.1(COL18A1):c.2056C>T (p.Arg686Trp)
|
rs747007399
|
0.00008
|
NM_001379500.1(COL18A1):c.2178G>A (p.Pro726=)
|
rs556113991
|
0.00008
|
NM_001379500.1(COL18A1):c.2602G>A (p.Gly868Arg)
|
rs754936826
|
0.00008
|
NM_001379500.1(COL18A1):c.1057C>T (p.Arg353Trp)
|
rs369114408
|
0.00007
|
NM_001379500.1(COL18A1):c.107-12293C>T
|
rs758099059
|
0.00007
|
NM_001379500.1(COL18A1):c.1936G>A (p.Val646Met)
|
rs371970491
|
0.00007
|
NM_001379500.1(COL18A1):c.2107C>T (p.Pro703Ser)
|
rs755064694
|
0.00007
|
NM_001379500.1(COL18A1):c.2309G>T (p.Ser770Ile)
|
rs776080847
|
0.00007
|
NM_001379500.1(COL18A1):c.2433G>A (p.Pro811=)
|
rs200147240
|
0.00007
|
NM_001379500.1(COL18A1):c.2531C>T (p.Pro844Leu)
|
rs754192713
|
0.00007
|
NM_001379500.1(COL18A1):c.625G>A (p.Gly209Arg)
|
rs751236712
|
0.00007
|
NM_001379500.1(COL18A1):c.651+17C>T
|
rs578202936
|
0.00007
|
NM_001379500.1(COL18A1):c.1044G>A (p.Pro348=)
|
rs886057122
|
0.00006
|
NM_001379500.1(COL18A1):c.107-12198C>T
|
rs368985827
|
0.00006
|
NM_001379500.1(COL18A1):c.107-12348C>T
|
rs780835386
|
0.00006
|
NM_001379500.1(COL18A1):c.107-12648C>T
|
rs763995210
|
0.00006
|
NM_001379500.1(COL18A1):c.1098G>A (p.Pro366=)
|
rs747388968
|
0.00006
|
NM_001379500.1(COL18A1):c.1106C>T (p.Pro369Leu)
|
rs371330320
|
0.00006
|
NM_001379500.1(COL18A1):c.1483C>T (p.Pro495Ser)
|
rs375739796
|
0.00006
|
NM_001379500.1(COL18A1):c.1549G>A (p.Gly517Arg)
|
rs368600244
|
0.00006
|
NM_001379500.1(COL18A1):c.1702-4G>A
|
rs376187378
|
0.00006
|
NM_001379500.1(COL18A1):c.2187+7G>C
|
rs369701764
|
0.00006
|
NM_001379500.1(COL18A1):c.2254G>A (p.Glu752Lys)
|
rs370009347
|
0.00006
|
NM_001379500.1(COL18A1):c.2578-12C>T
|
rs201057172
|
0.00006
|
NM_001379500.1(COL18A1):c.2578G>T (p.Val860Leu)
|
rs200779516
|
0.00006
|
NM_001379500.1(COL18A1):c.2674G>A (p.Gly892Arg)
|
rs576719084
|
0.00006
|
NM_001379500.1(COL18A1):c.344C>T (p.Ala115Val)
|
rs367715239
|
0.00006
|
NM_001379500.1(COL18A1):c.775C>T (p.Arg259Trp)
|
rs376722572
|
0.00006
|
NM_001379500.1(COL18A1):c.980G>A (p.Arg327Gln)
|
rs778198369
|
0.00006
|
NM_001379500.1(COL18A1):c.107-12061A>T
|
rs746351498
|
0.00005
|
NM_001379500.1(COL18A1):c.107-12131C>T
|
rs758609359
|
0.00005
|
NM_001379500.1(COL18A1):c.107-12363G>A
|
rs557923229
|
0.00005
|
NM_001379500.1(COL18A1):c.107-12375G>A
|
rs750868738
|
0.00005
|
NM_001379500.1(COL18A1):c.107-12513C>T
|
rs375087150
|
0.00005
|
NM_001379500.1(COL18A1):c.107-12522G>A
|
rs373586271
|
0.00005
|
NM_001379500.1(COL18A1):c.142C>T (p.Leu48Phe)
|
rs978459772
|
0.00005
|
NM_001379500.1(COL18A1):c.2577+9C>T
|
rs774784084
|
0.00005
|
NM_001379500.1(COL18A1):c.857C>G (p.Ala286Gly)
|
rs763764131
|
0.00005
|
NM_001379500.1(COL18A1):c.872C>T (p.Thr291Met)
|
rs201652671
|
0.00005
|
NM_001379500.1(COL18A1):c.996C>T (p.Arg332=)
|
rs530808102
|
0.00005
|
NM_001379500.1(COL18A1):c.997G>A (p.Val333Met)
|
rs367882523
|
0.00005
|
NM_001379500.1(COL18A1):c.1043C>T (p.Pro348Leu)
|
rs372859456
|
0.00004
|
NM_001379500.1(COL18A1):c.1058G>A (p.Arg353Gln)
|
rs373030953
|
0.00004
|
NM_001379500.1(COL18A1):c.107-12449A>G
|
rs752886739
|
0.00004
|
NM_001379500.1(COL18A1):c.107-12512G>A
|
rs747435605
|
0.00004
|
NM_001379500.1(COL18A1):c.107-12533C>T
|
rs199929202
|
0.00004
|
NM_001379500.1(COL18A1):c.107-12581C>T
|
rs199984023
|
0.00004
|
NM_001379500.1(COL18A1):c.1097C>T (p.Pro366Leu)
|
rs569431714
|
0.00004
|
NM_001379500.1(COL18A1):c.110G>A (p.Arg37His)
|
rs771318359
|
0.00004
|
NM_001379500.1(COL18A1):c.1221G>A (p.Pro407=)
|
rs368902481
|
0.00004
|
NM_001379500.1(COL18A1):c.1451G>A (p.Arg484Gln)
|
rs748764112
|
0.00004
|
NM_001379500.1(COL18A1):c.1582G>A (p.Glu528Lys)
|
rs1271658589
|
0.00004
|
NM_001379500.1(COL18A1):c.1611G>A (p.Pro537=)
|
rs755844755
|
0.00004
|
NM_001379500.1(COL18A1):c.2085C>T (p.Asp695=)
|
rs373006940
|
0.00004
|
NM_001379500.1(COL18A1):c.2114C>T (p.Pro705Leu)
|
rs778057950
|
0.00004
|
NM_001379500.1(COL18A1):c.2143G>A (p.Val715Met)
|
rs372801767
|
0.00004
|
NM_001379500.1(COL18A1):c.2148G>A (p.Ser716=)
|
rs374522196
|
0.00004
|
NM_001379500.1(COL18A1):c.2180G>A (p.Gly727Glu)
|
rs377720407
|
0.00004
|
NM_001379500.1(COL18A1):c.2192G>A (p.Arg731Gln)
|
rs201805043
|
0.00004
|
NM_001379500.1(COL18A1):c.221C>G (p.Ala74Gly)
|
rs761177952
|
0.00004
|
NM_001379500.1(COL18A1):c.2258G>A (p.Arg753Gln)
|
rs1373350140
|
0.00004
|
NM_001379500.1(COL18A1):c.2261G>T (p.Gly754Val)
|
rs1227712112
|
0.00004
|
NM_001379500.1(COL18A1):c.2294C>T (p.Pro765Leu)
|
rs557802919
|
0.00004
|
NM_001379500.1(COL18A1):c.2320G>A (p.Gly774Ser)
|
rs762806573
|
0.00004
|
NM_001379500.1(COL18A1):c.2428C>T (p.Arg810Trp)
|
rs764129709
|
0.00004
|
NM_001379500.1(COL18A1):c.242G>A (p.Arg81Gln)
|
rs371058906
|
0.00004
|
NM_001379500.1(COL18A1):c.2434-8C>T
|
rs367814420
|
0.00004
|
NM_001379500.1(COL18A1):c.2569G>A (p.Asp857Asn)
|
rs769737149
|
0.00004
|
NM_001379500.1(COL18A1):c.2601C>T (p.Pro867=)
|
rs374530279
|
0.00004
|
NM_001379500.1(COL18A1):c.2632C>T (p.Pro878Ser)
|
rs377290522
|
0.00004
|
NM_001379500.1(COL18A1):c.2636C>T (p.Pro879Leu)
|
rs769116877
|
0.00004
|
NM_001379500.1(COL18A1):c.2668C>T (p.Pro890Ser)
|
rs764836878
|
0.00004
|
NM_001379500.1(COL18A1):c.341C>T (p.Ser114Leu)
|
rs373861758
|
0.00004
|
NM_001379500.1(COL18A1):c.568C>T (p.Arg190Trp)
|
rs772265744
|
0.00004
|
NM_001379500.1(COL18A1):c.651+6C>G
|
rs755778352
|
0.00004
|
NM_001379500.1(COL18A1):c.798G>A (p.Thr266=)
|
rs527870177
|
0.00004
|
NM_001379500.1(COL18A1):c.803C>T (p.Ala268Val)
|
rs375414087
|
0.00004
|
NM_001379500.1(COL18A1):c.988G>C (p.Gly330Arg)
|
rs765866228
|
0.00004
|
NM_001379500.1(COL18A1):c.1059G>A (p.Arg353=)
|
rs886057123
|
0.00003
|
NM_001379500.1(COL18A1):c.107-11479C>A
|
rs764709181
|
0.00003
|
NM_001379500.1(COL18A1):c.107-12104C>T
|
rs772920092
|
0.00003
|
NM_001379500.1(COL18A1):c.107-12261C>A
|
rs769054779
|
0.00003
|
NM_001379500.1(COL18A1):c.107-12408G>A
|
rs771588051
|
0.00003
|
NM_001379500.1(COL18A1):c.107-12699C>G
|
rs1366656695
|
0.00003
|
NM_001379500.1(COL18A1):c.1151C>G (p.Thr384Ser)
|
rs918305461
|
0.00003
|
NM_001379500.1(COL18A1):c.1165C>G (p.Gln389Glu)
|
rs911055429
|
0.00003
|
NM_001379500.1(COL18A1):c.1195G>A (p.Gly399Ser)
|
rs769431765
|
0.00003
|
NM_001379500.1(COL18A1):c.1221+12C>T
|
rs765348415
|
0.00003
|
NM_001379500.1(COL18A1):c.1258G>A (p.Gly420Arg)
|
rs771294144
|
0.00003
|
NM_001379500.1(COL18A1):c.1283C>T (p.Pro428Leu)
|
rs1394559173
|
0.00003
|
NM_001379500.1(COL18A1):c.1306G>A (p.Asp436Asn)
|
rs1437988246
|
0.00003
|
NM_001379500.1(COL18A1):c.1429G>A (p.Gly477Arg)
|
rs375852929
|
0.00003
|
NM_001379500.1(COL18A1):c.1454G>T (p.Gly485Val)
|
rs912817242
|
0.00003
|
NM_001379500.1(COL18A1):c.1535G>A (p.Ser512Asn)
|
rs367836626
|
0.00003
|
NM_001379500.1(COL18A1):c.1949C>T (p.Pro650Leu)
|
rs376627920
|
0.00003
|
NM_001379500.1(COL18A1):c.2032-6C>T
|
rs886057126
|
0.00003
|
NM_001379500.1(COL18A1):c.2099C>T (p.Pro700Leu)
|
rs370141116
|
0.00003
|
NM_001379500.1(COL18A1):c.2267C>T (p.Pro756Leu)
|
rs370673713
|
0.00003
|
NM_001379500.1(COL18A1):c.2279G>A (p.Gly760Asp)
|
rs770537257
|
0.00003
|
NM_001379500.1(COL18A1):c.2310C>G (p.Ser770Arg)
|
rs1194389817
|
0.00003
|
NM_001379500.1(COL18A1):c.2379G>A (p.Pro793=)
|
rs560605850
|
0.00003
|
NM_001379500.1(COL18A1):c.2396C>T (p.Pro799Leu)
|
rs376924299
|
0.00003
|
NM_001379500.1(COL18A1):c.2650G>A (p.Ala884Thr)
|
rs539944051
|
0.00003
|
NM_001379500.1(COL18A1):c.296G>A (p.Arg99Gln)
|
rs375588763
|
0.00003
|
NM_001379500.1(COL18A1):c.460C>T (p.Arg154Trp)
|
rs375242667
|
0.00003
|
NM_001379500.1(COL18A1):c.577C>T (p.Arg193Trp)
|
rs571541763
|
0.00003
|
NM_001379500.1(COL18A1):c.682G>A (p.Asp228Asn)
|
rs780058672
|
0.00003
|
NM_001379500.1(COL18A1):c.797C>T (p.Thr266Met)
|
rs760342643
|
0.00003
|
NM_001379500.1(COL18A1):c.832C>A (p.Pro278Thr)
|
rs777293388
|
0.00003
|
NM_001379500.1(COL18A1):c.850C>T (p.Pro284Ser)
|
rs766846763
|
0.00003
|
NM_001379500.1(COL18A1):c.925G>A (p.Gly309Arg)
|
rs369289615
|
0.00003
|
NM_001379500.1(COL18A1):c.107-11405C>T
|
rs558767689
|
0.00002
|
NM_001379500.1(COL18A1):c.107-12129C>T
|
rs746995849
|
0.00002
|
NM_001379500.1(COL18A1):c.107-12162G>A
|
rs749957649
|
0.00002
|
NM_001379500.1(COL18A1):c.107-12314C>T
|
rs368269918
|
0.00002
|
NM_001379500.1(COL18A1):c.1139C>G (p.Pro380Arg)
|
rs768284186
|
0.00002
|
NM_001379500.1(COL18A1):c.1142C>T (p.Ala381Val)
|
rs761673241
|
0.00002
|
NM_001379500.1(COL18A1):c.134T>C (p.Leu45Pro)
|
rs763647573
|
0.00002
|
NM_001379500.1(COL18A1):c.1387C>T (p.His463Tyr)
|
rs376357877
|
0.00002
|
NM_001379500.1(COL18A1):c.1392C>G (p.Asp464Glu)
|
rs779319415
|
0.00002
|
NM_001379500.1(COL18A1):c.1460G>A (p.Arg487Gln)
|
rs371292624
|
0.00002
|
NM_001379500.1(COL18A1):c.1477C>T (p.Pro493Ser)
|
rs759046238
|
0.00002
|
NM_001379500.1(COL18A1):c.1504C>T (p.Pro502Ser)
|
rs768826416
|
0.00002
|
NM_001379500.1(COL18A1):c.1610C>T (p.Pro537Leu)
|
rs750422215
|
0.00002
|
NM_001379500.1(COL18A1):c.1715C>G (p.Ala572Gly)
|
rs944134774
|
0.00002
|
NM_001379500.1(COL18A1):c.1720G>A (p.Gly574Ser)
|
rs1357428784
|
0.00002
|
NM_001379500.1(COL18A1):c.193G>A (p.Gly65Arg)
|
rs771267104
|
0.00002
|
NM_001379500.1(COL18A1):c.1973C>T (p.Ala658Val)
|
rs772975247
|
0.00002
|
NM_001379500.1(COL18A1):c.1986C>T (p.Pro662=)
|
rs754862849
|
0.00002
|
NM_001379500.1(COL18A1):c.2011G>A (p.Glu671Lys)
|
rs770391575
|
0.00002
|
NM_001379500.1(COL18A1):c.2047A>C (p.Arg683=)
|
rs886057127
|
0.00002
|
NM_001379500.1(COL18A1):c.2086G>A (p.Gly696Arg)
|
rs774209774
|
0.00002
|
NM_001379500.1(COL18A1):c.2092G>A (p.Gly698Arg)
|
rs767150342
|
0.00002
|
NM_001379500.1(COL18A1):c.2138T>C (p.Val713Ala)
|
rs367570320
|
0.00002
|
NM_001379500.1(COL18A1):c.217G>A (p.Asp73Asn)
|
rs370054491
|
0.00002
|
NM_001379500.1(COL18A1):c.2216G>A (p.Gly739Glu)
|
rs752724123
|
0.00002
|
NM_001379500.1(COL18A1):c.2501G>T (p.Gly834Val)
|
rs1458664567
|
0.00002
|
NM_001379500.1(COL18A1):c.2503A>C (p.Met835Leu)
|
rs926457920
|
0.00002
|
NM_001379500.1(COL18A1):c.2663T>C (p.Val888Ala)
|
rs373528509
|
0.00002
|
NM_001379500.1(COL18A1):c.2671C>T (p.Pro891Ser)
|
rs777661365
|
0.00002
|
NM_001379500.1(COL18A1):c.478G>A (p.Gly160Ser)
|
rs769705694
|
0.00002
|
NM_001379500.1(COL18A1):c.676C>T (p.Arg226Cys)
|
rs375001641
|
0.00002
|
NM_001379500.1(COL18A1):c.677G>A (p.Arg226His)
|
rs201095161
|
0.00002
|
NM_001379500.1(COL18A1):c.760G>A (p.Gly254Arg)
|
rs766459944
|
0.00002
|
NM_001379500.1(COL18A1):c.799-3C>G
|
rs375628545
|
0.00002
|
NM_001379500.1(COL18A1):c.847C>G (p.Pro283Ala)
|
rs773744285
|
0.00002
|
NM_001379500.1(COL18A1):c.927A>G (p.Gly309=)
|
rs765570400
|
0.00002
|
NM_001379500.1(COL18A1):c.928+5G>C
|
rs375723411
|
0.00002
|
NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp)
|
rs551388856
|
0.00002
|
NM_001379500.1(COL18A1):c.1064G>A (p.Gly355Asp)
|
rs1311114154
|
0.00001
|
NM_001379500.1(COL18A1):c.1069C>G (p.Pro357Ala)
|
rs1276725071
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12095C>T
|
rs1057181306
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12153A>G
|
rs1314864524
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12212C>A
|
rs999764376
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12249G>A
|
rs773715846
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12258C>T
|
rs748188616
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12263G>A
|
rs2034789709
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12318G>C
|
rs1555853876
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12329G>T
|
rs537323761
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12347G>A
|
rs745610940
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12387G>A
|
rs764301199
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12413C>T
|
rs754701304
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12420G>A
|
rs781638267
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12485C>A
|
rs773963114
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12491C>T
|
rs749001958
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12494C>T
|
rs779506536
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12585A>G
|
rs2034774491
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12599C>G
|
rs758784072
|
0.00001
|
NM_001379500.1(COL18A1):c.107-12624T>C
|
rs2034772658
|
0.00001
|
NM_001379500.1(COL18A1):c.1072G>C (p.Gly358Arg)
|
rs62000458
|
0.00001
|
NM_001379500.1(COL18A1):c.1132G>A (p.Ala378Thr)
|
rs554098446
|
0.00001
|
NM_001379500.1(COL18A1):c.115A>G (p.Ser39Gly)
|
rs1282122900
|
0.00001
|
NM_001379500.1(COL18A1):c.1191G>C (p.Arg397Ser)
|
rs1459485458
|
0.00001
|
NM_001379500.1(COL18A1):c.1199C>T (p.Thr400Ile)
|
rs2035739552
|
0.00001
|
NM_001379500.1(COL18A1):c.1205G>C (p.Gly402Ala)
|
rs1283317728
|
0.00001
|
NM_001379500.1(COL18A1):c.1210G>C (p.Asp404His)
|
rs774411955
|
0.00001
|
NM_001379500.1(COL18A1):c.1213G>A (p.Gly405Ser)
|
rs1041713692
|
0.00001
|
NM_001379500.1(COL18A1):c.1214G>A (p.Gly405Asp)
|
rs771756025
|
0.00001
|
NM_001379500.1(COL18A1):c.1216G>A (p.Glu406Lys)
|
rs766573503
|
0.00001
|
NM_001379500.1(COL18A1):c.1220C>T (p.Pro407Leu)
|
rs761200713
|
0.00001
|
NM_001379500.1(COL18A1):c.1252G>A (p.Asp418Asn)
|
rs748428793
|
0.00001
|
NM_001379500.1(COL18A1):c.1272C>A (p.Phe424Leu)
|
rs1438207437
|
0.00001
|
NM_001379500.1(COL18A1):c.1279A>G (p.Thr427Ala)
|
rs2035834385
|
0.00001
|
NM_001379500.1(COL18A1):c.1291G>A (p.Val431Ile)
|
rs765136526
|
0.00001
|
NM_001379500.1(COL18A1):c.1348C>T (p.Pro450Ser)
|
rs2035840827
|
0.00001
|
NM_001379500.1(COL18A1):c.1375C>T (p.Pro459Ser)
|
rs1353870315
|
0.00001
|
NM_001379500.1(COL18A1):c.1411A>G (p.Met471Val)
|
rs759635724
|
0.00001
|
NM_001379500.1(COL18A1):c.1433G>T (p.Gly478Val)
|
rs1170787263
|
0.00001
|
NM_001379500.1(COL18A1):c.1484C>G (p.Pro495Arg)
|
rs751547351
|
0.00001
|
NM_001379500.1(COL18A1):c.1507G>A (p.Gly503Ser)
|
rs368194132
|
0.00001
|
NM_001379500.1(COL18A1):c.1519C>T (p.Arg507Cys)
|
rs764759377
|
0.00001
|
NM_001379500.1(COL18A1):c.151C>G (p.Pro51Ala)
|
rs1404898003
|
0.00001
|
NM_001379500.1(COL18A1):c.1543G>A (p.Val515Ile)
|
rs1308231024
|
0.00001
|
NM_001379500.1(COL18A1):c.1642C>T (p.Pro548Ser)
|
rs370509732
|
0.00001
|
NM_001379500.1(COL18A1):c.1646C>T (p.Pro549Leu)
|
rs760127889
|
0.00001
|
NM_001379500.1(COL18A1):c.1667G>A (p.Gly556Asp)
|
rs903635422
|
0.00001
|
NM_001379500.1(COL18A1):c.1674+15G>A
|
rs201043325
|
0.00001
|
NM_001379500.1(COL18A1):c.1701+4C>T
|
rs750158035
|
0.00001
|
NM_001379500.1(COL18A1):c.1736G>A (p.Arg579His)
|
rs1042525677
|
0.00001
|
NM_001379500.1(COL18A1):c.1765G>A (p.Gly589Arg)
|
rs906225803
|
0.00001
|
NM_001379500.1(COL18A1):c.1768C>G (p.Pro590Ala)
|
rs754558226
|
0.00001
|
NM_001379500.1(COL18A1):c.1781C>T (p.Pro594Leu)
|
rs1415267638
|
0.00001
|
NM_001379500.1(COL18A1):c.1842G>C (p.Met614Ile)
|
rs759166031
|
0.00001
|
NM_001379500.1(COL18A1):c.1856G>A (p.Gly619Glu)
|
rs751553488
|
0.00001
|
NM_001379500.1(COL18A1):c.1877G>A (p.Arg626Gln)
|
rs755828011
|
0.00001
|
NM_001379500.1(COL18A1):c.1891C>T (p.Pro631Ser)
|
rs777357848
|
0.00001
|
NM_001379500.1(COL18A1):c.190G>A (p.Val64Ile)
|
rs532978021
|
0.00001
|
NM_001379500.1(COL18A1):c.1921A>C (p.Lys641Gln)
|
rs1466763962
|
0.00001
|
NM_001379500.1(COL18A1):c.1931C>T (p.Pro644Leu)
|
rs759989824
|
0.00001
|
NM_001379500.1(COL18A1):c.1938G>T (p.Val646=)
|
rs886057125
|
0.00001
|
NM_001379500.1(COL18A1):c.1951G>A (p.Gly651Arg)
|
rs1014046933
|
0.00001
|
NM_001379500.1(COL18A1):c.1960G>A (p.Gly654Arg)
|
rs1288985094
|
0.00001
|
NM_001379500.1(COL18A1):c.1996G>A (p.Gly666Ser)
|
rs529458355
|
0.00001
|
NM_001379500.1(COL18A1):c.2031+9C>T
|
rs780751282
|
0.00001
|
NM_001379500.1(COL18A1):c.2031G>C (p.Gln677His)
|
rs893321400
|
0.00001
|
NM_001379500.1(COL18A1):c.2032-3C>T
|
rs781306936
|
0.00001
|
NM_001379500.1(COL18A1):c.205G>A (p.Val69Ile)
|
rs1405984023
|
0.00001
|
NM_001379500.1(COL18A1):c.2067G>A (p.Lys689=)
|
rs868680623
|
0.00001
|
NM_001379500.1(COL18A1):c.2113C>A (p.Pro705Thr)
|
rs765760874
|
0.00001
|
NM_001379500.1(COL18A1):c.2119G>A (p.Gly707Arg)
|
rs375408962
|
0.00001
|
NM_001379500.1(COL18A1):c.2137G>A (p.Val713Ile)
|
rs765166935
|
0.00001
|
NM_001379500.1(COL18A1):c.2157+13C>T
|
rs772102800
|
0.00001
|
NM_001379500.1(COL18A1):c.2164G>A (p.Val722Ile)
|
rs750722061
|
0.00001
|
NM_001379500.1(COL18A1):c.2188G>T (p.Gly730Cys)
|
rs1462703295
|
0.00001
|
NM_001379500.1(COL18A1):c.2195C>T (p.Pro732Leu)
|
rs760617633
|
0.00001
|
NM_001379500.1(COL18A1):c.2233G>A (p.Gly745Ser)
|
rs908066000
|
0.00001
|
NM_001379500.1(COL18A1):c.2276A>G (p.Lys759Arg)
|
rs1205411020
|
0.00001
|
NM_001379500.1(COL18A1):c.2281G>A (p.Glu761Lys)
|
rs1432696137
|
0.00001
|
NM_001379500.1(COL18A1):c.2314G>A (p.Asp772Asn)
|
rs1448522581
|
0.00001
|
NM_001379500.1(COL18A1):c.2352+5G>A
|
rs1267906332
|
0.00001
|
NM_001379500.1(COL18A1):c.2378C>T (p.Pro793Leu)
|
rs367551698
|
0.00001
|
NM_001379500.1(COL18A1):c.2389G>A (p.Gly797Arg)
|
rs780841902
|
0.00001
|
NM_001379500.1(COL18A1):c.2412G>C (p.Glu804Asp)
|
rs764943040
|
0.00001
|
NM_001379500.1(COL18A1):c.2429G>A (p.Arg810Gln)
|
rs751578852
|
0.00001
|
NM_001379500.1(COL18A1):c.2464G>C (p.Glu822Gln)
|
rs778082909
|
0.00001
|
NM_001379500.1(COL18A1):c.2477C>T (p.Pro826Leu)
|
rs375575507
|
0.00001
|
NM_001379500.1(COL18A1):c.2563G>C (p.Val855Leu)
|
rs780665070
|
0.00001
|
NM_001379500.1(COL18A1):c.2576A>G (p.Asn859Ser)
|
rs762756737
|
0.00001
|
NM_001379500.1(COL18A1):c.2599C>T (p.Pro867Ser)
|
rs1437717018
|
0.00001
|
NM_001379500.1(COL18A1):c.2630G>A (p.Gly877Asp)
|
rs770294398
|
0.00001
|
NM_001379500.1(COL18A1):c.2642C>T (p.Pro881Leu)
|
rs1336199682
|
0.00001
|
NM_001379500.1(COL18A1):c.2651C>T (p.Ala884Val)
|
rs1260999240
|
0.00001
|
NM_001379500.1(COL18A1):c.2666G>C (p.Gly889Ala)
|
rs2036588007
|
0.00001
|
NM_001379500.1(COL18A1):c.2677C>T (p.Pro893Ser)
|
rs1174405532
|
0.00001
|
NM_001379500.1(COL18A1):c.269G>A (p.Arg90His)
|
rs555610408
|
0.00001
|
NM_001379500.1(COL18A1):c.291C>T (p.His97=)
|
rs1272002645
|
0.00001
|
NM_001379500.1(COL18A1):c.299C>G (p.Pro100Arg)
|
rs1341881526
|
0.00001
|
NM_001379500.1(COL18A1):c.328G>A (p.Ala110Thr)
|
rs771685609
|
0.00001
|
NM_001379500.1(COL18A1):c.335C>T (p.Thr112Met)
|
rs990338525
|
0.00001
|
NM_001379500.1(COL18A1):c.377C>T (p.Ser126Phe)
|
rs867910077
|
0.00001
|
NM_001379500.1(COL18A1):c.385C>G (p.Gln129Glu)
|
rs1307142819
|
0.00001
|
NM_001379500.1(COL18A1):c.428G>A (p.Gly143Asp)
|
rs2035299752
|
0.00001
|
NM_001379500.1(COL18A1):c.467C>T (p.Pro156Leu)
|
rs369275624
|
0.00001
|
NM_001379500.1(COL18A1):c.469G>A (p.Ala157Thr)
|
rs956137597
|
0.00001
|
NM_001379500.1(COL18A1):c.475G>A (p.Val159Ile)
|
rs563096347
|
0.00001
|
NM_001379500.1(COL18A1):c.560C>T (p.Pro187Leu)
|
rs768416568
|
0.00001
|
NM_001379500.1(COL18A1):c.569G>A (p.Arg190Gln)
|
rs773316683
|
0.00001
|
NM_001379500.1(COL18A1):c.598G>A (p.Gly200Ser)
|
rs370834739
|
0.00001
|
NM_001379500.1(COL18A1):c.601G>A (p.Ala201Thr)
|
rs767149984
|
0.00001
|
NM_001379500.1(COL18A1):c.616G>T (p.Ala206Ser)
|
rs1158092133
|
0.00001
|
NM_001379500.1(COL18A1):c.684C>G (p.Asp228Glu)
|
rs749795378
|
0.00001
|
NM_001379500.1(COL18A1):c.724G>A (p.Asp242Asn)
|
rs1367224866
|
0.00001
|
NM_001379500.1(COL18A1):c.745G>A (p.Gly249Arg)
|
rs763704721
|
0.00001
|
NM_001379500.1(COL18A1):c.752C>T (p.Ser251Phe)
|
rs559392439
|
0.00001
|
NM_001379500.1(COL18A1):c.767G>A (p.Gly256Glu)
|
rs368233273
|
0.00001
|
NM_001379500.1(COL18A1):c.787A>G (p.Arg263Gly)
|
rs767501139
|
0.00001
|
NM_001379500.1(COL18A1):c.802G>A (p.Ala268Thr)
|
rs759338220
|
0.00001
|
NM_001379500.1(COL18A1):c.814C>A (p.Pro272Thr)
|
rs764159488
|
0.00001
|
NM_001379500.1(COL18A1):c.826G>A (p.Ala276Thr)
|
rs780610411
|
0.00001
|
NM_001379500.1(COL18A1):c.836C>T (p.Pro279Leu)
|
rs375411877
|
0.00001
|
NM_001379500.1(COL18A1):c.855G>A (p.Leu285=)
|
rs754187386
|
0.00001
|
NM_001379500.1(COL18A1):c.928+13C>T
|
rs767207437
|
0.00001
|
NM_001379500.1(COL18A1):c.932A>G (p.Gln311Arg)
|
rs753757924
|
0.00001
|
NM_001379500.1(COL18A1):c.938T>C (p.Leu313Pro)
|
rs778913399
|
0.00001
|
NM_001379500.1(COL18A1):c.962C>T (p.Thr321Met)
|
rs372492704
|
0.00001
|
NM_001379500.1(COL18A1):c.985C>G (p.Pro329Ala)
|
rs760373742
|
0.00001
|
NM_001379500.1(COL18A1):c.994C>T (p.Arg332Cys)
|
rs759096913
|
0.00001
|
NM_001379500.1(COL18A1):c.995G>A (p.Arg332His)
|
rs765035951
|
0.00001
|
GRCh37/hg19 21q22.3(chr21:46741597-46828764)x3
|
|
|
GRCh37/hg19 21q22.3(chr21:46771495-46886520)x3
|
|
|
NC_000021.8:g.(?_46825079)_(46933635_?)dup
|
|
|
NC_000021.8:g.(?_46825146)_(46825408_?)dup
|
|
|
NC_000021.8:g.(?_46910169)_(46913509_?)del
|
|
|
NC_000021.8:g.(?_46912429)_(46912647_?)del
|
|
|
NC_000021.8:g.(?_46916450)_(46917520_?)del
|
|
|
NC_000021.8:g.(?_46927455)_(46927527_?)del
|
|
|
NG_011903.1:g.104329_104337del
|
rs2124375890
|
|
NM_001379500.1(COL18A1):c.1005+3A>G
|
rs1188707546
|
|
NM_001379500.1(COL18A1):c.1005+6G>A
|
rs2145923720
|
|
NM_001379500.1(COL18A1):c.1005G>C (p.Glu335Asp)
|
|
|
NM_001379500.1(COL18A1):c.1032G>C (p.Glu344Asp)
|
|
|
NM_001379500.1(COL18A1):c.1033C>A (p.Pro345Thr)
|
|
|
NM_001379500.1(COL18A1):c.1057C>G (p.Arg353Gly)
|
|
|
NM_001379500.1(COL18A1):c.107-11397G>T
|
|
|
NM_001379500.1(COL18A1):c.107-11421G>T
|
|
|
NM_001379500.1(COL18A1):c.107-11432G>A
|
|
|
NM_001379500.1(COL18A1):c.107-11586del
|
|
|
NM_001379500.1(COL18A1):c.107-11594G>C
|
rs559500998
|
|
NM_001379500.1(COL18A1):c.107-11982G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12047C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12054C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12057T>G
|
|
|
NM_001379500.1(COL18A1):c.107-12067A>G
|
|
|
NM_001379500.1(COL18A1):c.107-12074_107-12073inv
|
|
|
NM_001379500.1(COL18A1):c.107-12077C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12078C>A
|
|
|
NM_001379500.1(COL18A1):c.107-12089_107-12085del
|
|
|
NM_001379500.1(COL18A1):c.107-12105G>A
|
rs771686771
|
|
NM_001379500.1(COL18A1):c.107-12108T>G
|
rs2145853041
|
|
NM_001379500.1(COL18A1):c.107-12112_107-12111delinsTT
|
rs1555853999
|
|
NM_001379500.1(COL18A1):c.107-12115C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12128C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12140C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12146_107-12143del
|
rs2034795658
|
|
NM_001379500.1(COL18A1):c.107-12152C>A
|
rs142892701
|
|
NM_001379500.1(COL18A1):c.107-12165A>G
|
rs2145852787
|
|
NM_001379500.1(COL18A1):c.107-12167C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12180C>G
|
rs773218086
|
|
NM_001379500.1(COL18A1):c.107-12182C>T
|
rs2145852692
|
|
NM_001379500.1(COL18A1):c.107-12195G>A
|
rs62000960
|
|
NM_001379500.1(COL18A1):c.107-12195G>T
|
rs62000960
|
|
NM_001379500.1(COL18A1):c.107-12202C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12209T>C
|
rs1248747342
|
|
NM_001379500.1(COL18A1):c.107-12213A>C
|
|
|
NM_001379500.1(COL18A1):c.107-12215C>G
|
|
|
NM_001379500.1(COL18A1):c.107-12228del
|
rs766977257
|
|
NM_001379500.1(COL18A1):c.107-12229C>G
|
|
|
NM_001379500.1(COL18A1):c.107-12229_107-12228del
|
rs766977257
|
|
NM_001379500.1(COL18A1):c.107-12233C>G
|
|
|
NM_001379500.1(COL18A1):c.107-12233C>T
|
rs1394047766
|
|
NM_001379500.1(COL18A1):c.107-12244del
|
|
|
NM_001379500.1(COL18A1):c.107-12246G>T
|
|
|
NM_001379500.1(COL18A1):c.107-12249G>T
|
|
|
NM_001379500.1(COL18A1):c.107-12254C>T
|
rs2034790204
|
|
NM_001379500.1(COL18A1):c.107-12278T>C
|
|
|
NM_001379500.1(COL18A1):c.107-12284T>G
|
rs1420083020
|
|
NM_001379500.1(COL18A1):c.107-12287C>A
|
|
|
NM_001379500.1(COL18A1):c.107-12301G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12307G>C
|
|
|
NM_001379500.1(COL18A1):c.107-12310T>G
|
|
|
NM_001379500.1(COL18A1):c.107-12332T>C
|
rs979909932
|
|
NM_001379500.1(COL18A1):c.107-12337C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12338T>C
|
|
|
NM_001379500.1(COL18A1):c.107-12343C>A
|
rs2145852023
|
|
NM_001379500.1(COL18A1):c.107-12345A>G
|
rs1455342006
|
|
NM_001379500.1(COL18A1):c.107-12351A>G
|
rs1233806011
|
|
NM_001379500.1(COL18A1):c.107-12352C>T
|
rs2034785215
|
|
NM_001379500.1(COL18A1):c.107-12353G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12386G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12389C>T
|
rs867129226
|
|
NM_001379500.1(COL18A1):c.107-12393A>G
|
|
|
NM_001379500.1(COL18A1):c.107-12395A>G
|
rs2145851797
|
|
NM_001379500.1(COL18A1):c.107-12396A>G
|
|
|
NM_001379500.1(COL18A1):c.107-12400_107-12399dup
|
rs2145851763
|
|
NM_001379500.1(COL18A1):c.107-12407C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12434C>T
|
rs2145851596
|
|
NM_001379500.1(COL18A1):c.107-12435A>G
|
rs1457776311
|
|
NM_001379500.1(COL18A1):c.107-12454G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12456C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12461C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12464C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12491C>A
|
rs749001958
|
|
NM_001379500.1(COL18A1):c.107-12500C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12513dup
|
rs764004091
|
|
NM_001379500.1(COL18A1):c.107-12515C>T
|
rs2145851355
|
|
NM_001379500.1(COL18A1):c.107-12525C>T
|
rs2145851323
|
|
NM_001379500.1(COL18A1):c.107-12528A>G
|
|
|
NM_001379500.1(COL18A1):c.107-12533C>A
|
rs199929202
|
|
NM_001379500.1(COL18A1):c.107-12560C>A
|
rs2145851180
|
|
NM_001379500.1(COL18A1):c.107-12560_107-12551del
|
rs762647237
|
|
NM_001379500.1(COL18A1):c.107-12568C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12575C>G
|
|
|
NM_001379500.1(COL18A1):c.107-12592_107-12591inv
|
|
|
NM_001379500.1(COL18A1):c.107-12596_107-12593del
|
rs1184675333
|
|
NM_001379500.1(COL18A1):c.107-12606G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12611A>G
|
rs1334413714
|
|
NM_001379500.1(COL18A1):c.107-12621C>T
|
rs369389768
|
|
NM_001379500.1(COL18A1):c.107-12626A>G
|
|
|
NM_001379500.1(COL18A1):c.107-12630C>A
|
rs375363285
|
|
NM_001379500.1(COL18A1):c.107-12630C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12640C>A
|
rs767332921
|
|
NM_001379500.1(COL18A1):c.107-12645dup
|
rs752078007
|
|
NM_001379500.1(COL18A1):c.107-12647G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12662G>A
|
|
|
NM_001379500.1(COL18A1):c.107-12663_107-12661del
|
rs759495424
|
|
NM_001379500.1(COL18A1):c.107-12681C>T
|
|
|
NM_001379500.1(COL18A1):c.107-12691C>G
|
|
|
NM_001379500.1(COL18A1):c.107-12701A>C
|
|
|
NM_001379500.1(COL18A1):c.107-12701A>G
|
rs1475490590
|
|
NM_001379500.1(COL18A1):c.107-12T>G
|
|
|
NM_001379500.1(COL18A1):c.1079C>G (p.Pro360Arg)
|
|
|
NM_001379500.1(COL18A1):c.1079C>T (p.Pro360Leu)
|
|
|
NM_001379500.1(COL18A1):c.110G>C (p.Arg37Pro)
|
|
|
NM_001379500.1(COL18A1):c.1112C>T (p.Pro371Leu)
|
|
|
NM_001379500.1(COL18A1):c.1113A>G (p.Pro371=)
|
rs2145924982
|
|
NM_001379500.1(COL18A1):c.1126G>A (p.Gly376Ser)
|
rs762568273
|
|
NM_001379500.1(COL18A1):c.1127G>A (p.Gly376Asp)
|
rs1222535856
|
|
NM_001379500.1(COL18A1):c.1151C>T (p.Thr384Ile)
|
|
|
NM_001379500.1(COL18A1):c.117C>G (p.Ser39Arg)
|
|
|
NM_001379500.1(COL18A1):c.1184C>T (p.Pro395Leu)
|
|
|
NM_001379500.1(COL18A1):c.1187G>T (p.Gly396Val)
|
|
|
NM_001379500.1(COL18A1):c.118G>A (p.Glu40Lys)
|
|
|
NM_001379500.1(COL18A1):c.1190G>C (p.Arg397Thr)
|
|
|
NM_001379500.1(COL18A1):c.1193A>T (p.Asp398Val)
|
|
|
NM_001379500.1(COL18A1):c.1221+3G>A
|
|
|
NM_001379500.1(COL18A1):c.1227C>A (p.Asp409Glu)
|
rs781130929
|
|
NM_001379500.1(COL18A1):c.1231G>A (p.Gly411Ser)
|
|
|
NM_001379500.1(COL18A1):c.1247C>G (p.Pro416Arg)
|
rs768781599
|
|
NM_001379500.1(COL18A1):c.1247C>T (p.Pro416Leu)
|
rs768781599
|
|
NM_001379500.1(COL18A1):c.1248+5G>A
|
|
|
NM_001379500.1(COL18A1):c.1249-12G>A
|
|
|
NM_001379500.1(COL18A1):c.1249-16G>A
|
|
|
NM_001379500.1(COL18A1):c.1249-7_1249-6del
|
rs1435013143
|
|
NM_001379500.1(COL18A1):c.1253A>C (p.Asp418Ala)
|
rs768548019
|
|
NM_001379500.1(COL18A1):c.1262C>T (p.Pro421Leu)
|
|
|
NM_001379500.1(COL18A1):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001379500.1(COL18A1):c.1273C>A (p.Pro425Thr)
|
rs2145934047
|
|
NM_001379500.1(COL18A1):c.1276G>A (p.Gly426Arg)
|
|
|
NM_001379500.1(COL18A1):c.1288G>A (p.Asp430Asn)
|
|
|
NM_001379500.1(COL18A1):c.1290_1291delinsTA (p.Val431Ile)
|
rs2145934110
|
|
NM_001379500.1(COL18A1):c.1293A>G (p.Val431=)
|
|
|
NM_001379500.1(COL18A1):c.1297C>A (p.Pro433Thr)
|
rs2145934160
|
|
NM_001379500.1(COL18A1):c.1312-13C>T
|
|
|
NM_001379500.1(COL18A1):c.1312-5C>A
|
|
|
NM_001379500.1(COL18A1):c.1318C>A (p.Pro440Thr)
|
|
|
NM_001379500.1(COL18A1):c.1319C>T (p.Pro440Leu)
|
|
|
NM_001379500.1(COL18A1):c.1329A>C (p.Gly443=)
|
|
|
NM_001379500.1(COL18A1):c.1339C>T (p.Pro447Ser)
|
|
|
NM_001379500.1(COL18A1):c.1341_1358del (p.Gln451_Pro456del)
|
rs753322378
|
|
NM_001379500.1(COL18A1):c.1342C>T (p.Pro448Ser)
|
rs373670175
|
|
NM_001379500.1(COL18A1):c.1343_1351dup (p.Pro448_Pro450dup)
|
rs775305174
|
|
NM_001379500.1(COL18A1):c.1349C>T (p.Pro450Leu)
|
rs1272945203
|
|
NM_001379500.1(COL18A1):c.1351_1377del (p.Gln451_Pro459del)
|
rs765744081
|
|
NM_001379500.1(COL18A1):c.1359_1367dup (p.454PGP[3])
|
rs2145934776
|
|
NM_001379500.1(COL18A1):c.1379C>A (p.Ser460Tyr)
|
rs750465152
|
|
NM_001379500.1(COL18A1):c.1379C>T (p.Ser460Phe)
|
rs750465152
|
|
NM_001379500.1(COL18A1):c.1399-11C>G
|
|
|
NM_001379500.1(COL18A1):c.1399-15G>A
|
rs1327932285
|
|
NM_001379500.1(COL18A1):c.1399-3C>T
|
rs2145936373
|
|
NM_001379500.1(COL18A1):c.1411A>C (p.Met471Leu)
|
|
|
NM_001379500.1(COL18A1):c.1415A>G (p.Glu472Gly)
|
|
|
NM_001379500.1(COL18A1):c.1429G>C (p.Gly477Arg)
|
rs375852929
|
|
NM_001379500.1(COL18A1):c.1450C>T (p.Arg484Trp)
|
|
|
NM_001379500.1(COL18A1):c.1452+3G>A
|
|
|
NM_001379500.1(COL18A1):c.1452+3G>C
|
rs748096473
|
|
NM_001379500.1(COL18A1):c.1456C>T (p.Pro486Ser)
|
rs1485432928
|
|
NM_001379500.1(COL18A1):c.1460G>C (p.Arg487Pro)
|
|
|
NM_001379500.1(COL18A1):c.1475C>T (p.Pro492Leu)
|
|
|
NM_001379500.1(COL18A1):c.1486C>T (p.Pro496Ser)
|
|
|
NM_001379500.1(COL18A1):c.1492G>A (p.Val498Ile)
|
|
|
NM_001379500.1(COL18A1):c.1495C>A (p.Pro499Thr)
|
rs1782614153
|
|
NM_001379500.1(COL18A1):c.1495C>T (p.Pro499Ser)
|
|
|
NM_001379500.1(COL18A1):c.1510G>A (p.Glu504Lys)
|
|
|
NM_001379500.1(COL18A1):c.1519C>A (p.Arg507Ser)
|
|
|
NM_001379500.1(COL18A1):c.1520G>A (p.Arg507His)
|
|
|
NM_001379500.1(COL18A1):c.152C>G (p.Pro51Arg)
|
rs761392315
|
|
NM_001379500.1(COL18A1):c.152C>T (p.Pro51Leu)
|
|
|
NM_001379500.1(COL18A1):c.1531A>T (p.Asn511Tyr)
|
|
|
NM_001379500.1(COL18A1):c.1534A>G (p.Ser512Gly)
|
|
|
NM_001379500.1(COL18A1):c.1542C>A (p.Asp514Glu)
|
|
|
NM_001379500.1(COL18A1):c.1544T>C (p.Val515Ala)
|
rs780113129
|
|
NM_001379500.1(COL18A1):c.1546C>T (p.Pro516Ser)
|
rs956106136
|
|
NM_001379500.1(COL18A1):c.1552C>T (p.Pro518Ser)
|
|
|
NM_001379500.1(COL18A1):c.1555G>A (p.Ala519Thr)
|
rs61737706
|
|
NM_001379500.1(COL18A1):c.1555G>T (p.Ala519Ser)
|
rs61737706
|
|
NM_001379500.1(COL18A1):c.1558G>A (p.Gly520Ser)
|
|
|
NM_001379500.1(COL18A1):c.155C>A (p.Pro52Gln)
|
rs529544471
|
|
NM_001379500.1(COL18A1):c.155C>T (p.Pro52Leu)
|
|
|
NM_001379500.1(COL18A1):c.1568G>A (p.Gly523Asp)
|
|
|
NM_001379500.1(COL18A1):c.156G>A (p.Pro52=)
|
|
|
NM_001379500.1(COL18A1):c.1579C>T (p.Arg527Cys)
|
|
|
NM_001379500.1(COL18A1):c.1580G>A (p.Arg527His)
|
|
|
NM_001379500.1(COL18A1):c.1581C>G (p.Arg527=)
|
rs369409660
|
|
NM_001379500.1(COL18A1):c.1586G>T (p.Gly529Val)
|
|
|
NM_001379500.1(COL18A1):c.1588C>G (p.Pro530Ala)
|
rs1276594534
|
|
NM_001379500.1(COL18A1):c.1588C>T (p.Pro530Ser)
|
rs1276594534
|
|
NM_001379500.1(COL18A1):c.1611+3A>G
|
rs896948898
|
|
NM_001379500.1(COL18A1):c.1612-14C>T
|
|
|
NM_001379500.1(COL18A1):c.1616C>T (p.Pro539Leu)
|
rs757733022
|
|
NM_001379500.1(COL18A1):c.1618C>T (p.Pro540Ser)
|
rs1396627996
|
|
NM_001379500.1(COL18A1):c.1621G>T (p.Gly541Cys)
|
rs2145942771
|
|
NM_001379500.1(COL18A1):c.1630G>A (p.Gly544Arg)
|
|
|
NM_001379500.1(COL18A1):c.1645C>T (p.Pro549Ser)
|
rs1342361545
|
|
NM_001379500.1(COL18A1):c.1653G>A (p.Arg551=)
|
|
|
NM_001379500.1(COL18A1):c.1654A>G (p.Thr552Ala)
|
|
|
NM_001379500.1(COL18A1):c.1659G>T (p.Gly553=)
|
|
|
NM_001379500.1(COL18A1):c.1661A>G (p.Gln554Arg)
|
|
|
NM_001379500.1(COL18A1):c.1670G>A (p.Ser557Asn)
|
rs2145942990
|
|
NM_001379500.1(COL18A1):c.1675-3C>T
|
|
|
NM_001379500.1(COL18A1):c.1678G>A (p.Glu560Lys)
|
rs980331086
|
|
NM_001379500.1(COL18A1):c.1685G>A (p.Gly562Asp)
|
rs2145945844
|
|
NM_001379500.1(COL18A1):c.1690C>T (p.Pro564Ser)
|
rs529900513
|
|
NM_001379500.1(COL18A1):c.1696C>A (p.His566Asn)
|
rs2035946843
|
|
NM_001379500.1(COL18A1):c.1702-19C>G
|
rs985868954
|
|
NM_001379500.1(COL18A1):c.1702-5C>A
|
|
|
NM_001379500.1(COL18A1):c.1702-5C>G
|
|
|
NM_001379500.1(COL18A1):c.1709A>G (p.Lys570Arg)
|
|
|
NM_001379500.1(COL18A1):c.1715C>A (p.Ala572Asp)
|
rs944134774
|
|
NM_001379500.1(COL18A1):c.1717C>T (p.Pro573Ser)
|
rs1399595323
|
|
NM_001379500.1(COL18A1):c.1733C>T (p.Ala578Val)
|
|
|
NM_001379500.1(COL18A1):c.1735C>T (p.Arg579Cys)
|
|
|
NM_001379500.1(COL18A1):c.1738G>T (p.Gly580Trp)
|
|
|
NM_001379500.1(COL18A1):c.1739G>T (p.Gly580Val)
|
rs1568916889
|
|
NM_001379500.1(COL18A1):c.1746C>A (p.Ser582Arg)
|
rs1037977541
|
|
NM_001379500.1(COL18A1):c.1747G>A (p.Gly583Ser)
|
rs1053583385
|
|
NM_001379500.1(COL18A1):c.1747_1748delinsTT (p.Gly583Phe)
|
rs2145964546
|
|
NM_001379500.1(COL18A1):c.1754C>T (p.Ala585Val)
|
rs2036133500
|
|
NM_001379500.1(COL18A1):c.1759G>C (p.Ala587Pro)
|
rs560016001
|
|
NM_001379500.1(COL18A1):c.1759G>T (p.Ala587Ser)
|
rs560016001
|
|
NM_001379500.1(COL18A1):c.1763C>T (p.Pro588Leu)
|
|
|
NM_001379500.1(COL18A1):c.1768C>T (p.Pro590Ser)
|
|
|
NM_001379500.1(COL18A1):c.1772C>T (p.Ala591Val)
|
|
|
NM_001379500.1(COL18A1):c.1778C>G (p.Pro593Arg)
|
|
|
NM_001379500.1(COL18A1):c.1778C>T (p.Pro593Leu)
|
rs2145964688
|
|
NM_001379500.1(COL18A1):c.1785C>T (p.Gly595=)
|
|
|
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[1] (p.594PGP[3])
|
rs764710670
|
|
NM_001379500.1(COL18A1):c.1791TGGGCCCCC[3] (p.594PGP[5])
|
rs764710670
|
|
NM_001379500.1(COL18A1):c.1795C>A (p.Pro599Thr)
|
|
|
NM_001379500.1(COL18A1):c.1802G>A (p.Gly601Glu)
|
rs2145964859
|
|
NM_001379500.1(COL18A1):c.1804C>T (p.Pro602Ser)
|
|
|
NM_001379500.1(COL18A1):c.1807C>T (p.Pro603Ser)
|
|
|
NM_001379500.1(COL18A1):c.1813C>T (p.Pro605Ser)
|
|
|
NM_001379500.1(COL18A1):c.1817G>A (p.Gly606Glu)
|
rs2145964932
|
|
NM_001379500.1(COL18A1):c.1833+10G>T
|
|
|
NM_001379500.1(COL18A1):c.1833T>C (p.Phe611=)
|
rs1020274118
|
|
NM_001379500.1(COL18A1):c.1834-15G>A
|
rs191917454
|
|
NM_001379500.1(COL18A1):c.1834-15GT[2]
|
|
|
NM_001379500.1(COL18A1):c.1834G>C (p.Asp612His)
|
|
|
NM_001379500.1(COL18A1):c.183C>A (p.Asp61Glu)
|
rs2035289975
|
|
NM_001379500.1(COL18A1):c.1840A>T (p.Met614Leu)
|
|
|
NM_001379500.1(COL18A1):c.1844A>G (p.Glu615Gly)
|
|
|
NM_001379500.1(COL18A1):c.1854G>A (p.Gly618=)
|
|
|
NM_001379500.1(COL18A1):c.1861T>C (p.Phe621Leu)
|
rs2145967303
|
|
NM_001379500.1(COL18A1):c.1873G>C (p.Ala625Pro)
|
|
|
NM_001379500.1(COL18A1):c.1876C>G (p.Arg626Gly)
|
|
|
NM_001379500.1(COL18A1):c.1892C>T (p.Pro631Leu)
|
|
|
NM_001379500.1(COL18A1):c.1894C>T (p.Gln632Ter)
|
rs1209249150
|
|
NM_001379500.1(COL18A1):c.1895A>T (p.Gln632Leu)
|
|
|
NM_001379500.1(COL18A1):c.1896+14C>G
|
rs1158872213
|
|
NM_001379500.1(COL18A1):c.1896+7T>G
|
|
|
NM_001379500.1(COL18A1):c.1900C>T (p.Pro634Ser)
|
|
|
NM_001379500.1(COL18A1):c.1901C>T (p.Pro634Leu)
|
|
|
NM_001379500.1(COL18A1):c.1903C>T (p.Pro635Ser)
|
|
|
NM_001379500.1(COL18A1):c.1924-10T>C
|
|
|
NM_001379500.1(COL18A1):c.1924-1G>C
|
rs1568919581
|
|
NM_001379500.1(COL18A1):c.1924-4T>C
|
|
|
NM_001379500.1(COL18A1):c.1926G>A (p.Gly642=)
|
|
|
NM_001379500.1(COL18A1):c.1927G>A (p.Asp643Asn)
|
rs2036224001
|
|
NM_001379500.1(COL18A1):c.1931C>G (p.Pro644Arg)
|
rs759989824
|
|
NM_001379500.1(COL18A1):c.1934G>A (p.Gly645Asp)
|
|
|
NM_001379500.1(COL18A1):c.1944G>A (p.Gly648=)
|
|
|
NM_001379500.1(COL18A1):c.1954G>A (p.Ala652Thr)
|
rs780076280
|
|
NM_001379500.1(COL18A1):c.1958A>G (p.Lys653Arg)
|
|
|
NM_001379500.1(COL18A1):c.1959+6C>T
|
rs768552772
|
|
NM_001379500.1(COL18A1):c.1960-14T>C
|
|
|
NM_001379500.1(COL18A1):c.1960-3C>G
|
|
|
NM_001379500.1(COL18A1):c.1960-3C>T
|
|
|
NM_001379500.1(COL18A1):c.1965A>T (p.Glu655Asp)
|
rs2036270496
|
|
NM_001379500.1(COL18A1):c.1967T>C (p.Val656Ala)
|
|
|
NM_001379500.1(COL18A1):c.1986C>G (p.Pro662=)
|
|
|
NM_001379500.1(COL18A1):c.1987G>A (p.Gly663Arg)
|
|
|
NM_001379500.1(COL18A1):c.1999C>T (p.Leu667Phe)
|
rs1450913709
|
|
NM_001379500.1(COL18A1):c.2017A>G (p.Ile673Val)
|
|
|
NM_001379500.1(COL18A1):c.2026C>T (p.Pro676Ser)
|
|
|
NM_001379500.1(COL18A1):c.2031+5G>A
|
rs1323500892
|
|
NM_001379500.1(COL18A1):c.2041G>A (p.Gly681Arg)
|
|
|
NM_001379500.1(COL18A1):c.2059G>A (p.Gly687Arg)
|
|
|
NM_001379500.1(COL18A1):c.2067+14G>A
|
|
|
NM_001379500.1(COL18A1):c.2068-11T>G
|
|
|
NM_001379500.1(COL18A1):c.2068-16_2068-15dup
|
|
|
NM_001379500.1(COL18A1):c.2097G>A (p.Gln699=)
|
|
|
NM_001379500.1(COL18A1):c.2109_2117del (p.703PGP[2])
|
rs769276494
|
|
NM_001379500.1(COL18A1):c.2113C>G (p.Pro705Ala)
|
rs765760874
|
|
NM_001379500.1(COL18A1):c.2113C>T (p.Pro705Ser)
|
rs765760874
|
|
NM_001379500.1(COL18A1):c.2116C>A (p.Pro706Thr)
|
rs546271526
|
|
NM_001379500.1(COL18A1):c.2116C>G (p.Pro706Ala)
|
rs546271526
|
|
NM_001379500.1(COL18A1):c.2116C>T (p.Pro706Ser)
|
rs546271526
|
|
NM_001379500.1(COL18A1):c.2117C>T (p.Pro706Leu)
|
|
|
NM_001379500.1(COL18A1):c.2122C>A (p.Pro708Thr)
|
|
|
NM_001379500.1(COL18A1):c.2125C>A (p.Pro709Thr)
|
|
|
NM_001379500.1(COL18A1):c.2126C>T (p.Pro709Leu)
|
|
|
NM_001379500.1(COL18A1):c.2143G>C (p.Val715Leu)
|
|
|
NM_001379500.1(COL18A1):c.2147C>T (p.Ser716Leu)
|
rs764619601
|
|
NM_001379500.1(COL18A1):c.2157+19T>A
|
|
|
NM_001379500.1(COL18A1):c.2157+20G>C
|
|
|
NM_001379500.1(COL18A1):c.2158-7T>C
|
|
|
NM_001379500.1(COL18A1):c.2158-8G>C
|
|
|
NM_001379500.1(COL18A1):c.2159G>A (p.Gly720Glu)
|
|
|
NM_001379500.1(COL18A1):c.2161T>C (p.Ser721Pro)
|
|
|
NM_001379500.1(COL18A1):c.2161T>G (p.Ser721Ala)
|
rs774425124
|
|
NM_001379500.1(COL18A1):c.2177C>G (p.Pro726Arg)
|
rs758130407
|
|
NM_001379500.1(COL18A1):c.2177C>T (p.Pro726Leu)
|
rs758130407
|
|
NM_001379500.1(COL18A1):c.2179G>C (p.Gly727Arg)
|
|
|
NM_001379500.1(COL18A1):c.2187+5G>A
|
|
|
NM_001379500.1(COL18A1):c.2187G>A (p.Glu729=)
|
|
|
NM_001379500.1(COL18A1):c.2188-13C>T
|
|
|
NM_001379500.1(COL18A1):c.2188-3C>T
|
|
|
NM_001379500.1(COL18A1):c.2189G>T (p.Gly730Val)
|
|
|
NM_001379500.1(COL18A1):c.2191C>T (p.Arg731Trp)
|
|
|
NM_001379500.1(COL18A1):c.2203G>A (p.Ala735Thr)
|
rs372137898
|
|
NM_001379500.1(COL18A1):c.2203G>C (p.Ala735Pro)
|
|
|
NM_001379500.1(COL18A1):c.2203G>T (p.Ala735Ser)
|
|
|
NM_001379500.1(COL18A1):c.2213C>T (p.Pro738Leu)
|
|
|
NM_001379500.1(COL18A1):c.2214+15G>A
|
rs368257475
|
|
NM_001379500.1(COL18A1):c.2214+19G>A
|
|
|
NM_001379500.1(COL18A1):c.2214C>G (p.Pro738=)
|
rs199910738
|
|
NM_001379500.1(COL18A1):c.2218C>T (p.Pro740Ser)
|
|
|
NM_001379500.1(COL18A1):c.2221G>A (p.Ala741Thr)
|
rs2145993591
|
|
NM_001379500.1(COL18A1):c.2222C>T (p.Ala741Val)
|
|
|
NM_001379500.1(COL18A1):c.2231A>G (p.Lys744Arg)
|
|
|
NM_001379500.1(COL18A1):c.2232G>A (p.Lys744=)
|
|
|
NM_001379500.1(COL18A1):c.2240T>A (p.Leu747Gln)
|
rs2036419358
|
|
NM_001379500.1(COL18A1):c.2252G>A (p.Gly751Asp)
|
rs2145993719
|
|
NM_001379500.1(COL18A1):c.225C>T (p.Asn75=)
|
|
|
NM_001379500.1(COL18A1):c.2264C>G (p.Ser755Cys)
|
rs1286447971
|
|
NM_001379500.1(COL18A1):c.226A>C (p.Ser76Arg)
|
|
|
NM_001379500.1(COL18A1):c.2270G>A (p.Gly757Glu)
|
rs2145993811
|
|
NM_001379500.1(COL18A1):c.2272C>T (p.Pro758Ser)
|
rs2145993816
|
|
NM_001379500.1(COL18A1):c.2277+16G>A
|
|
|
NM_001379500.1(COL18A1):c.2277+18T>G
|
|
|
NM_001379500.1(COL18A1):c.2277G>A (p.Lys759=)
|
|
|
NM_001379500.1(COL18A1):c.2294C>A (p.Pro765Gln)
|
rs557802919
|
|
NM_001379500.1(COL18A1):c.2303T>C (p.Ile768Thr)
|
|
|
NM_001379500.1(COL18A1):c.2312C>T (p.Pro771Leu)
|
|
|
NM_001379500.1(COL18A1):c.2323G>A (p.Ala775Thr)
|
rs763734805
|
|
NM_001379500.1(COL18A1):c.2323G>T (p.Ala775Ser)
|
|
|
NM_001379500.1(COL18A1):c.2348C>A (p.Ala783Asp)
|
rs2036432521
|
|
NM_001379500.1(COL18A1):c.234A>T (p.Gln78His)
|
|
|
NM_001379500.1(COL18A1):c.2352+16C>T
|
|
|
NM_001379500.1(COL18A1):c.2352+6G>T
|
|
|
NM_001379500.1(COL18A1):c.2353-9T>A
|
|
|
NM_001379500.1(COL18A1):c.2360C>A (p.Pro787Gln)
|
rs367994730
|
|
NM_001379500.1(COL18A1):c.2360C>T (p.Pro787Leu)
|
|
|
NM_001379500.1(COL18A1):c.2362G>A (p.Gly788Ser)
|
|
|
NM_001379500.1(COL18A1):c.2369G>A (p.Arg790Gln)
|
|
|
NM_001379500.1(COL18A1):c.2375C>A (p.Pro792His)
|
rs779048807
|
|
NM_001379500.1(COL18A1):c.2375C>T (p.Pro792Leu)
|
rs779048807
|
|
NM_001379500.1(COL18A1):c.2378C>G (p.Pro793Arg)
|
|
|
NM_001379500.1(COL18A1):c.2380-15C>T
|
rs754575228
|
|
NM_001379500.1(COL18A1):c.2380-17C>A
|
|
|
NM_001379500.1(COL18A1):c.2393G>A (p.Arg798Gln)
|
|
|
NM_001379500.1(COL18A1):c.2404A>C (p.Lys802Gln)
|
|
|
NM_001379500.1(COL18A1):c.2414T>C (p.Ile805Thr)
|
rs1188507928
|
|
NM_001379500.1(COL18A1):c.2418_2426del (p.Phe807_Gly809del)
|
rs773480538
|
|
NM_001379500.1(COL18A1):c.2422C>T (p.Pro808Ser)
|
|
|
NM_001379500.1(COL18A1):c.2432C>T (p.Pro811Leu)
|
|
|
NM_001379500.1(COL18A1):c.2433+14G>A
|
|
|
NM_001379500.1(COL18A1):c.2433+14G>T
|
|
|
NM_001379500.1(COL18A1):c.2433+18_2433+42del
|
rs760904439
|
|
NM_001379500.1(COL18A1):c.2434-16C>T
|
|
|
NM_001379500.1(COL18A1):c.2434-4C>G
|
rs1392844393
|
|
NM_001379500.1(COL18A1):c.2438G>A (p.Arg813His)
|
rs1322668436
|
|
NM_001379500.1(COL18A1):c.2438G>T (p.Arg813Leu)
|
|
|
NM_001379500.1(COL18A1):c.2441C>T (p.Pro814Leu)
|
|
|
NM_001379500.1(COL18A1):c.2451_2459del (p.Asn817_Leu819del)
|
rs1568927603
|
|
NM_001379500.1(COL18A1):c.2464G>A (p.Glu822Lys)
|
|
|
NM_001379500.1(COL18A1):c.2473del (p.Glu825fs)
|
rs1568927636
|
|
NM_001379500.1(COL18A1):c.2484T>A (p.Asp828Glu)
|
|
|
NM_001379500.1(COL18A1):c.2485G>T (p.Ala829Ser)
|
rs2036496284
|
|
NM_001379500.1(COL18A1):c.248A>C (p.His83Pro)
|
rs2035293003
|
|
NM_001379500.1(COL18A1):c.2491C>T (p.Leu831Phe)
|
rs545931667
|
|
NM_001379500.1(COL18A1):c.2508+13C>A
|
|
|
NM_001379500.1(COL18A1):c.2508G>A (p.Arg836=)
|
rs2036496883
|
|
NM_001379500.1(COL18A1):c.2509-13G>A
|
|
|
NM_001379500.1(COL18A1):c.2509-7C>A
|
|
|
NM_001379500.1(COL18A1):c.2510G>C (p.Gly837Ala)
|
rs377444691
|
|
NM_001379500.1(COL18A1):c.2515C>T (p.Pro839Ser)
|
|
|
NM_001379500.1(COL18A1):c.2518G>A (p.Gly840Ser)
|
|
|
NM_001379500.1(COL18A1):c.2519G>A (p.Gly840Asp)
|
rs1450283602
|
|
NM_001379500.1(COL18A1):c.2523_2549del (p.841PPG[1])
|
|
|
NM_001379500.1(COL18A1):c.2529_2546del (p.841PPG[2])
|
rs765313492
|
|
NM_001379500.1(COL18A1):c.2529_2546dup (p.Gly852_Thr853insProProGlyProProGly)
|
|
|
NM_001379500.1(COL18A1):c.2531C>G (p.Pro844Arg)
|
rs754192713
|
|
NM_001379500.1(COL18A1):c.2539C>T (p.Pro847Ser)
|
|
|
NM_001379500.1(COL18A1):c.2539_2556del (p.841PPG[2])
|
rs751443356
|
|
NM_001379500.1(COL18A1):c.253C>T (p.Pro85Ser)
|
|
|
NM_001379500.1(COL18A1):c.2542C>T (p.Pro848Ser)
|
|
|
NM_001379500.1(COL18A1):c.2543C>G (p.Pro848Arg)
|
rs2146009338
|
|
NM_001379500.1(COL18A1):c.2547C>G (p.Gly849=)
|
|
|
NM_001379500.1(COL18A1):c.2553_2561del (p.Gly852_Pro854del)
|
|
|
NM_001379500.1(COL18A1):c.2554G>T (p.Gly852Trp)
|
|
|
NM_001379500.1(COL18A1):c.2557A>T (p.Thr853Ser)
|
rs2146009421
|
|
NM_001379500.1(COL18A1):c.2566T>A (p.Tyr856Asn)
|
|
|
NM_001379500.1(COL18A1):c.2577+5G>C
|
|
|
NM_001379500.1(COL18A1):c.2578-15C>T
|
|
|
NM_001379500.1(COL18A1):c.2578-3C>T
|
rs777261480
|
|
NM_001379500.1(COL18A1):c.2596C>A (p.Arg866Ser)
|
|
|
NM_001379500.1(COL18A1):c.2597G>A (p.Arg866His)
|
|
|
NM_001379500.1(COL18A1):c.259C>T (p.Leu87Phe)
|
rs1191732671
|
|
NM_001379500.1(COL18A1):c.2616G>C (p.Leu872Phe)
|
|
|
NM_001379500.1(COL18A1):c.2618C>T (p.Pro873Leu)
|
|
|
NM_001379500.1(COL18A1):c.2620+6G>T
|
|
|
NM_001379500.1(COL18A1):c.2621-7C>A
|
rs776722237
|
|
NM_001379500.1(COL18A1):c.2621G>A (p.Gly874Glu)
|
|
|
NM_001379500.1(COL18A1):c.262TTC[1] (p.Phe89del)
|
rs772443197
|
|
NM_001379500.1(COL18A1):c.2630G>T (p.Gly877Val)
|
|
|
NM_001379500.1(COL18A1):c.2639G>T (p.Gly880Val)
|
rs2146015321
|
|
NM_001379500.1(COL18A1):c.2642C>G (p.Pro881Arg)
|
|
|
NM_001379500.1(COL18A1):c.2643C>T (p.Pro881=)
|
|
|
NM_001379500.1(COL18A1):c.2644A>G (p.Lys882Glu)
|
|
|
NM_001379500.1(COL18A1):c.2646G>C (p.Lys882Asn)
|
|
|
NM_001379500.1(COL18A1):c.264C>G (p.Phe88Leu)
|
|
|
NM_001379500.1(COL18A1):c.2668_2669delinsTT (p.Pro890Phe)
|
rs2146015536
|
|
NM_001379500.1(COL18A1):c.2672C>G (p.Pro891Arg)
|
|
|
NM_001379500.1(COL18A1):c.2681C>G (p.Pro894Arg)
|
|
|
NM_001379500.1(COL18A1):c.2681C>T (p.Pro894Leu)
|
rs946508947
|
|
NM_001379500.1(COL18A1):c.2683+11C>G
|
rs886057128
|
|
NM_001379500.1(COL18A1):c.2683+6C>G
|
rs2146015672
|
|
NM_001379500.1(COL18A1):c.268C>T (p.Arg90Cys)
|
|
|
NM_001379500.1(COL18A1):c.273C>A (p.Asp91Glu)
|
rs2145890198
|
|
NM_001379500.1(COL18A1):c.274T>C (p.Phe92Leu)
|
|
|
NM_001379500.1(COL18A1):c.293T>A (p.Ile98Asn)
|
|
|
NM_001379500.1(COL18A1):c.294C>G (p.Ile98Met)
|
rs2145890268
|
|
NM_001379500.1(COL18A1):c.311G>T (p.Gly104Val)
|
|
|
NM_001379500.1(COL18A1):c.323T>C (p.Leu108Pro)
|
rs1349915592
|
|
NM_001379500.1(COL18A1):c.331A>G (p.Ile111Val)
|
rs760681216
|
|
NM_001379500.1(COL18A1):c.334A>G (p.Thr112Ala)
|
|
|
NM_001379500.1(COL18A1):c.337G>T (p.Asp113Tyr)
|
|
|
NM_001379500.1(COL18A1):c.352A>C (p.Met118Leu)
|
rs200702024
|
|
NM_001379500.1(COL18A1):c.352A>G (p.Met118Val)
|
rs200702024
|
|
NM_001379500.1(COL18A1):c.355G>A (p.Val119Ile)
|
|
|
NM_001379500.1(COL18A1):c.367G>A (p.Val123Met)
|
rs376829205
|
|
NM_001379500.1(COL18A1):c.367G>T (p.Val123Leu)
|
|
|
NM_001379500.1(COL18A1):c.376T>C (p.Ser126Pro)
|
|
|
NM_001379500.1(COL18A1):c.384G>A (p.Val128=)
|
|
|
NM_001379500.1(COL18A1):c.391G>A (p.Gly131Arg)
|
|
|
NM_001379500.1(COL18A1):c.394C>A (p.His132Asn)
|
|
|
NM_001379500.1(COL18A1):c.405C>G (p.Ile135Met)
|
rs1196442604
|
|
NM_001379500.1(COL18A1):c.407C>G (p.Ser136Cys)
|
|
|
NM_001379500.1(COL18A1):c.418A>T (p.Thr140Ser)
|
|
|
NM_001379500.1(COL18A1):c.425C>T (p.Pro142Leu)
|
|
|
NM_001379500.1(COL18A1):c.431C>G (p.Ala144Gly)
|
rs2145890702
|
|
NM_001379500.1(COL18A1):c.435C>T (p.Gly145=)
|
|
|
NM_001379500.1(COL18A1):c.438G>C (p.Gln146His)
|
rs772587390
|
|
NM_001379500.1(COL18A1):c.440C>A (p.Thr147Asn)
|
rs2145890723
|
|
NM_001379500.1(COL18A1):c.455G>T (p.Ser152Ile)
|
rs1008266515
|
|
NM_001379500.1(COL18A1):c.461G>A (p.Arg154Gln)
|
|
|
NM_001379500.1(COL18A1):c.477C>T (p.Val159=)
|
|
|
NM_001379500.1(COL18A1):c.479G>A (p.Gly160Asp)
|
|
|
NM_001379500.1(COL18A1):c.479G>C (p.Gly160Ala)
|
|
|
NM_001379500.1(COL18A1):c.497C>T (p.Ala166Val)
|
|
|
NM_001379500.1(COL18A1):c.524C>T (p.Ala175Val)
|
rs2145891042
|
|
NM_001379500.1(COL18A1):c.530A>C (p.Tyr177Ser)
|
rs779470945
|
|
NM_001379500.1(COL18A1):c.530A>T (p.Tyr177Phe)
|
|
|
NM_001379500.1(COL18A1):c.547T>C (p.Phe183Leu)
|
|
|
NM_001379500.1(COL18A1):c.606G>A (p.Gly202=)
|
|
|
NM_001379500.1(COL18A1):c.613G>C (p.Val205Leu)
|
|
|
NM_001379500.1(COL18A1):c.623C>T (p.Ala208Val)
|
rs773440175
|
|
NM_001379500.1(COL18A1):c.626G>C (p.Gly209Ala)
|
rs376944366
|
|
NM_001379500.1(COL18A1):c.628G>A (p.Gly210Arg)
|
rs1281408625
|
|
NM_001379500.1(COL18A1):c.629G>A (p.Gly210Glu)
|
|
|
NM_001379500.1(COL18A1):c.651+6C>T
|
rs755778352
|
|
NM_001379500.1(COL18A1):c.652-19T>C
|
|
|
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
|
|
|
NM_001379500.1(COL18A1):c.655G>T (p.Val219Leu)
|
rs1174846862
|
|
NM_001379500.1(COL18A1):c.657G>A (p.Val219=)
|
|
|
NM_001379500.1(COL18A1):c.661G>A (p.Ala221Thr)
|
rs777771831
|
|
NM_001379500.1(COL18A1):c.665A>C (p.Glu222Ala)
|
|
|
NM_001379500.1(COL18A1):c.682G>C (p.Asp228His)
|
rs780058672
|
|
NM_001379500.1(COL18A1):c.690G>C (p.Gln230His)
|
rs774932026
|
|
NM_001379500.1(COL18A1):c.703C>T (p.His235Tyr)
|
|
|
NM_001379500.1(COL18A1):c.738+5G>T
|
rs1555859077
|
|
NM_001379500.1(COL18A1):c.738G>A (p.Gly246=)
|
rs1456000275
|
|
NM_001379500.1(COL18A1):c.739-16T>C
|
|
|
NM_001379500.1(COL18A1):c.742T>A (p.Ser248Thr)
|
|
|
NM_001379500.1(COL18A1):c.743C>G (p.Ser248Cys)
|
|
|
NM_001379500.1(COL18A1):c.743_763dup (p.Gly254_Leu255insProGlyAspSerGlySerGly)
|
rs1380739283
|
|
NM_001379500.1(COL18A1):c.753T>C (p.Ser251=)
|
|
|
NM_001379500.1(COL18A1):c.757_759del (p.Ser253del)
|
rs2145915496
|
|
NM_001379500.1(COL18A1):c.758_759delinsTT (p.Ser253Ile)
|
rs2145915515
|
|
NM_001379500.1(COL18A1):c.763C>T (p.Leu255Phe)
|
|
|
NM_001379500.1(COL18A1):c.766G>A (p.Gly256Arg)
|
rs574811209
|
|
NM_001379500.1(COL18A1):c.766G>C (p.Gly256Arg)
|
|
|
NM_001379500.1(COL18A1):c.767G>C (p.Gly256Ala)
|
rs368233273
|
|
NM_001379500.1(COL18A1):c.770A>G (p.Asp257Gly)
|
rs773702907
|
|
NM_001379500.1(COL18A1):c.772G>T (p.Ala258Ser)
|
rs778268148
|
|
NM_001379500.1(COL18A1):c.776G>A (p.Arg259Gln)
|
rs62000965
|
|
NM_001379500.1(COL18A1):c.777G>A (p.Arg259=)
|
|
|
NM_001379500.1(COL18A1):c.790G>C (p.Glu264Gln)
|
rs2145915674
|
|
NM_001379500.1(COL18A1):c.796A>C (p.Thr266Pro)
|
rs2145915703
|
|
NM_001379500.1(COL18A1):c.798+3G>C
|
|
|
NM_001379500.1(COL18A1):c.798+5G>A
|
|
|
NM_001379500.1(COL18A1):c.798G>T (p.Thr266=)
|
|
|
NM_001379500.1(COL18A1):c.799-14C>A
|
|
|
NM_001379500.1(COL18A1):c.799-6C>T
|
|
|
NM_001379500.1(COL18A1):c.808C>G (p.Leu270Val)
|
rs773835415
|
|
NM_001379500.1(COL18A1):c.827C>T (p.Ala276Val)
|
|
|
NM_001379500.1(COL18A1):c.830C>T (p.Pro277Leu)
|
|
|
NM_001379500.1(COL18A1):c.835C>G (p.Pro279Ala)
|
|
|
NM_001379500.1(COL18A1):c.836_837delinsTG (p.Pro279Leu)
|
|
|
NM_001379500.1(COL18A1):c.838G>A (p.Val280Ile)
|
|
|
NM_001379500.1(COL18A1):c.839T>A (p.Val280Asp)
|
|
|
NM_001379500.1(COL18A1):c.843_844insGCGCCACCCCCCGTCTCC (p.Thr281_Thr282insAlaProProProValSer)
|
rs2145919180
|
|
NM_001379500.1(COL18A1):c.844A>G (p.Thr282Ala)
|
rs2035653986
|
|
NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met)
|
|
|
NM_001379500.1(COL18A1):c.860G>A (p.Gly287Glu)
|
|
|
NM_001379500.1(COL18A1):c.871A>C (p.Thr291Pro)
|
|
|
NM_001379500.1(COL18A1):c.874G>C (p.Glu292Gln)
|
|
|
NM_001379500.1(COL18A1):c.888_890dup (p.Ser296_Glu297insAsp)
|
|
|
NM_001379500.1(COL18A1):c.890A>C (p.Glu297Ala)
|
|
|
NM_001379500.1(COL18A1):c.898G>A (p.Glu300Lys)
|
|
|
NM_001379500.1(COL18A1):c.898GAG[1] (p.Glu301del)
|
rs765971874
|
|
NM_001379500.1(COL18A1):c.908C>T (p.Thr303Ile)
|
|
|
NM_001379500.1(COL18A1):c.909C>G (p.Thr303=)
|
|
|
NM_001379500.1(COL18A1):c.914T>C (p.Val305Ala)
|
|
|
NM_001379500.1(COL18A1):c.928+3A>G
|
|
|
NM_001379500.1(COL18A1):c.928+4A>G
|
|
|
NM_001379500.1(COL18A1):c.928G>A (p.Ala310Thr)
|
|
|
NM_001379500.1(COL18A1):c.929C>T (p.Ala310Val)
|
|
|
NM_001379500.1(COL18A1):c.935C>T (p.Thr312Ile)
|
|
|
NM_001379500.1(COL18A1):c.940C>G (p.Pro314Ala)
|
rs1407798036
|
|
NM_001379500.1(COL18A1):c.974G>T (p.Ser325Ile)
|
rs2035717750
|
|
NM_001379500.1(COL18A1):c.991G>T (p.Gly331Cys)
|
|
|
NM_001379500.1(COL18A1):c.993C>T (p.Gly331=)
|
|
|
NM_030582.4(COL18A1):c.1278+5_1278+8del
|
rs1568898560
|
|