ClinVar Miner

List of variants in gene COL18A1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 873
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HGVS dbSNP gnomAD frequency
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

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