ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 921
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000093.5(COL5A1):c.3418G>A (p.Val1140Met) rs149616140 0.00087
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_000093.5(COL5A1):c.-364G>C rs780212970 0.00064
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264 0.00061
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000093.5(COL5A1):c.598G>A (p.Asp200Asn) rs142890619 0.00034
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000093.5(COL5A1):c.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000093.5(COL5A1):c.-139G>T rs886063672 0.00022
NM_000093.5(COL5A1):c.1637C>T (p.Ala546Val) rs557361751 0.00022
NM_000093.5(COL5A1):c.3649C>T (p.Pro1217Ser) rs139116598 0.00019
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000093.5(COL5A1):c.944C>T (p.Thr315Met) rs145093766 0.00019
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val) rs145552797 0.00017
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255 0.00016
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000093.5(COL5A1):c.1295C>T (p.Pro432Leu) rs140943202 0.00014
NM_000093.5(COL5A1):c.2089-8G>A rs368595229 0.00014
NM_000093.5(COL5A1):c.4121C>T (p.Thr1374Met) rs151115748 0.00014
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile) rs145757313 0.00013
NM_000093.5(COL5A1):c.502A>G (p.Ile168Val) rs112858705 0.00013
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000093.5(COL5A1):c.1345C>T (p.Arg449Trp) rs374020067 0.00011
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.2677G>A (p.Ala893Thr) rs146195310 0.00011
NM_000093.5(COL5A1):c.2700+191C>T rs183885286 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.4433C>T (p.Pro1478Leu) rs377062537 0.00011
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr) rs370499963 0.00010
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=) rs576332528 0.00010
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560 0.00010
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171 0.00010
NM_000093.5(COL5A1):c.3936C>T (p.Gly1312=) rs367804791 0.00010
NM_000093.5(COL5A1):c.4067C>T (p.Ala1356Val) rs766796504 0.00010
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328 0.00009
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) rs777376620 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.3345G>A (p.Pro1115=) rs764683617 0.00009
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu) rs368305377 0.00009
NM_000093.5(COL5A1):c.4068+7G>A rs587780905 0.00009
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753 0.00008
NM_000093.5(COL5A1):c.2088C>T (p.Pro696=) rs146757272 0.00008
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311 0.00008
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609 0.00008
NM_000093.5(COL5A1):c.3203T>G (p.Val1068Gly) rs372109796 0.00008
NM_000093.5(COL5A1):c.4241G>C (p.Gly1414Ala) rs556167410 0.00008
NM_000093.5(COL5A1):c.4275C>T (p.Ile1425=) rs767372665 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000093.5(COL5A1):c.3111G>A (p.Thr1037=) rs758336822 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 0.00007
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu) rs141605663 0.00007
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg) rs863223467 0.00007
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser) rs369781295 0.00007
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala) rs140105243 0.00007
NM_000093.5(COL5A1):c.1831C>T (p.Arg611Trp) rs147329970 0.00006
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811 0.00006
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644 0.00006
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=) rs139343205 0.00006
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3258G>A (p.Ala1086=) rs372844807 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met) rs148548209 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000093.5(COL5A1):c.2034C>T (p.Pro678=) rs373100663 0.00005
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214 0.00005
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544 0.00005
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln) rs863223467 0.00005
NM_000093.5(COL5A1):c.1163A>G (p.Asn388Ser) rs150837465 0.00004
NM_000093.5(COL5A1):c.1292G>A (p.Gly431Glu) rs370311038 0.00004
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) rs372168541 0.00004
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025 0.00004
NM_000093.5(COL5A1):c.1569C>T (p.Pro523=) rs138803413 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992 0.00004
NM_000093.5(COL5A1):c.2286G>A (p.Pro762=) rs766817444 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000093.5(COL5A1):c.2398A>G (p.Ile800Val) rs146870918 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000093.5(COL5A1):c.4375G>A (p.Gly1459Ser) rs183114696 0.00004
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu) rs369971694 0.00004
NM_000093.5(COL5A1):c.476A>G (p.Asn159Ser) rs551016059 0.00004
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) rs762624092 0.00004
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys) rs769752636 0.00003
NM_000093.5(COL5A1):c.1189G>A (p.Ala397Thr) rs762108965 0.00003
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.1587C>T (p.Gly529=) rs529255491 0.00003
NM_000093.5(COL5A1):c.1827+11C>T rs374795810 0.00003
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His) rs371580094 0.00003
NM_000093.5(COL5A1):c.212C>T (p.Pro71Leu) rs779540528 0.00003
NM_000093.5(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171 0.00003
NM_000093.5(COL5A1):c.2484+6C>T rs576976549 0.00003
NM_000093.5(COL5A1):c.2542C>T (p.Arg848Cys) rs762336160 0.00003
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln) rs747046727 0.00003
NM_000093.5(COL5A1):c.2946C>T (p.Gly982=) rs1060502253 0.00003
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu) rs768531108 0.00003
NM_000093.5(COL5A1):c.3257C>T (p.Ala1086Val) rs774849517 0.00003
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206 0.00003
NM_000093.5(COL5A1):c.3529-4G>A rs779064113 0.00003
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094 0.00003
NM_000093.5(COL5A1):c.3786T>G (p.Ala1262=) rs1233949819 0.00003
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245 0.00003
NM_000093.5(COL5A1):c.3815C>A (p.Pro1272Gln) rs369684394 0.00003
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) rs551695730 0.00003
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala) rs749162303 0.00003
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.4386C>T (p.Gly1462=) rs759256816 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His) rs757434449 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn) rs148288567 0.00002
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069 0.00002
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val) rs752746395 0.00002
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys) rs763456705 0.00002
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388 0.00002
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104 0.00002
NM_000093.5(COL5A1):c.1388C>T (p.Pro463Leu) rs201375465 0.00002
NM_000093.5(COL5A1):c.1495-3C>T rs943808454 0.00002
NM_000093.5(COL5A1):c.1574G>A (p.Arg525Gln) rs375762619 0.00002
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360 0.00002
NM_000093.5(COL5A1):c.1734C>T (p.Ser578=) rs148094039 0.00002
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.217G>A (p.Val73Ile) rs148793863 0.00002
NM_000093.5(COL5A1):c.2293C>T (p.Pro765Ser) rs766839110 0.00002
NM_000093.5(COL5A1):c.2483G>A (p.Arg828Gln) rs781317910 0.00002
NM_000093.5(COL5A1):c.2508C>T (p.Pro836=) rs373285312 0.00002
NM_000093.5(COL5A1):c.2635C>A (p.Gln879Lys) rs758475317 0.00002
NM_000093.5(COL5A1):c.2708C>T (p.Pro903Leu) rs780406577 0.00002
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865 0.00002
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246 0.00002
NM_000093.5(COL5A1):c.3040C>T (p.Arg1014Cys) rs780601499 0.00002
NM_000093.5(COL5A1):c.3041G>A (p.Arg1014His) rs754184016 0.00002
NM_000093.5(COL5A1):c.3605C>T (p.Pro1202Leu) rs1198718473 0.00002
NM_000093.5(COL5A1):c.3627C>T (p.Phe1209=) rs748000980 0.00002
NM_000093.5(COL5A1):c.37C>T (p.Leu13Phe) rs762625123 0.00002
NM_000093.5(COL5A1):c.3852+3G>A rs1220391738 0.00002
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys) rs149717587 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.3898G>A (p.Gly1300Ser) rs769814019 0.00002
NM_000093.5(COL5A1):c.4319G>A (p.Arg1440Gln) rs758650140 0.00002
NM_000093.5(COL5A1):c.4378C>A (p.Pro1460Thr) rs773125713 0.00002
NM_000093.5(COL5A1):c.526A>C (p.Asn176His) rs369396868 0.00002
NM_000093.5(COL5A1):c.52C>T (p.Pro18Ser) rs1060502260 0.00002
NM_000093.5(COL5A1):c.57G>A (p.Leu19=) rs761259908 0.00002
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) rs781248560 0.00002
NM_000093.5(COL5A1):c.1021G>A (p.Val341Met) rs756703956 0.00001
NM_000093.5(COL5A1):c.1074C>T (p.Gly358=) rs561440698 0.00001
NM_000093.5(COL5A1):c.1089C>G (p.Asn363Lys) rs773870913 0.00001
NM_000093.5(COL5A1):c.1093G>A (p.Asp365Asn) rs1420950002 0.00001
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro) rs757379111 0.00001
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr) rs768269251 0.00001
NM_000093.5(COL5A1):c.1175C>T (p.Pro392Leu) rs1290737803 0.00001
NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu) rs1052185173 0.00001
NM_000093.5(COL5A1):c.1229G>A (p.Arg410Gln) rs769244075 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1332+4dup rs886063674 0.00001
NM_000093.5(COL5A1):c.1340G>A (p.Gly447Glu) rs753549769 0.00001
NM_000093.5(COL5A1):c.1389G>A (p.Pro463=) rs1057518771 0.00001
NM_000093.5(COL5A1):c.1430C>T (p.Ala477Val) rs763650548 0.00001
NM_000093.5(COL5A1):c.1462C>T (p.Pro488Ser) rs1238395732 0.00001
NM_000093.5(COL5A1):c.1465A>G (p.Thr489Ala) rs863223468 0.00001
NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu) rs144909439 0.00001
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val) rs535161301 0.00001
NM_000093.5(COL5A1):c.164T>C (p.Ile55Thr) rs899196123 0.00001
NM_000093.5(COL5A1):c.1678C>G (p.Pro560Ala) rs1321926947 0.00001
NM_000093.5(COL5A1):c.16C>G (p.Arg6Gly) rs1460929040 0.00001
NM_000093.5(COL5A1):c.1717G>A (p.Val573Met) rs1304946894 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253 0.00001
NM_000093.5(COL5A1):c.1825C>T (p.Arg609Trp) rs772579783 0.00001
NM_000093.5(COL5A1):c.1828-3C>G rs369608154 0.00001
NM_000093.5(COL5A1):c.1840A>C (p.Ser614Arg) rs863223477 0.00001
NM_000093.5(COL5A1):c.1900G>A (p.Gly634Ser) rs183627101 0.00001
NM_000093.5(COL5A1):c.1989+4G>A rs1307138217 0.00001
NM_000093.5(COL5A1):c.2002G>A (p.Glu668Lys) rs764603796 0.00001
NM_000093.5(COL5A1):c.2032C>T (p.Pro678Ser) rs756190610 0.00001
NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser) rs943838033 0.00001
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu) rs1389473144 0.00001
NM_000093.5(COL5A1):c.2146G>A (p.Glu716Lys) rs750450695 0.00001
NM_000093.5(COL5A1):c.214G>A (p.Asp72Asn) rs376115028 0.00001
NM_000093.5(COL5A1):c.2174A>G (p.Asn725Ser) rs142612655 0.00001
NM_000093.5(COL5A1):c.2269G>A (p.Gly757Ser) rs1464394247 0.00001
NM_000093.5(COL5A1):c.2331+4G>A rs1588532335 0.00001
NM_000093.5(COL5A1):c.2382C>T (p.Val794=) rs758190171 0.00001
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val) rs745370910 0.00001
NM_000093.5(COL5A1):c.2430+230C>G rs1837207655 0.00001
NM_000093.5(COL5A1):c.2430+4A>C rs772211603 0.00001
NM_000093.5(COL5A1):c.2464A>G (p.Met822Val) rs1060502262 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.2501C>T (p.Pro834Leu) rs558752105 0.00001
NM_000093.5(COL5A1):c.2527G>C (p.Glu843Gln) rs1837405294 0.00001
NM_000093.5(COL5A1):c.2543G>A (p.Arg848His) rs767925708 0.00001
NM_000093.5(COL5A1):c.256C>T (p.Pro86Ser) rs1277995091 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.2661C>A (p.Phe887Leu) rs1424208076 0.00001
NM_000093.5(COL5A1):c.2696G>T (p.Gly899Val) rs759338898 0.00001
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=) rs749844592 0.00001
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000093.5(COL5A1):c.2744C>T (p.Thr915Met) rs771090557 0.00001
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874 0.00001
NM_000093.5(COL5A1):c.2843G>A (p.Arg948Gln) rs574551567 0.00001
NM_000093.5(COL5A1):c.289C>T (p.Pro97Ser) rs1189111524 0.00001
NM_000093.5(COL5A1):c.2951C>G (p.Thr984Ser) rs1205167823 0.00001
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835 0.00001
NM_000093.5(COL5A1):c.2971G>A (p.Gly991Ser) rs777368013 0.00001
NM_000093.5(COL5A1):c.298T>G (p.Phe100Val) rs761639579 0.00001
NM_000093.5(COL5A1):c.2992G>A (p.Val998Met) rs776676564 0.00001
NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser) rs193920927 0.00001
NM_000093.5(COL5A1):c.3059C>T (p.Pro1020Leu) rs1001786208 0.00001
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser) rs536758248 0.00001
NM_000093.5(COL5A1):c.3082C>T (p.Leu1028Phe) rs762810181 0.00001
NM_000093.5(COL5A1):c.3112A>G (p.Lys1038Glu) rs766852875 0.00001
NM_000093.5(COL5A1):c.3166C>T (p.Arg1056Cys) rs367905915 0.00001
NM_000093.5(COL5A1):c.3227A>G (p.Asn1076Ser) rs1838252619 0.00001
NM_000093.5(COL5A1):c.3235C>T (p.Pro1079Ser) rs763310793 0.00001
NM_000093.5(COL5A1):c.3296G>C (p.Gly1099Ala) rs1315080321 0.00001
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His) rs1482501113 0.00001
NM_000093.5(COL5A1):c.3341G>C (p.Gly1114Ala) rs926426117 0.00001
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658 0.00001
NM_000093.5(COL5A1):c.3346G>T (p.Ala1116Ser) rs1838294621 0.00001
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449 0.00001
NM_000093.5(COL5A1):c.3528+12C>T rs927953209 0.00001
NM_000093.5(COL5A1):c.3545C>T (p.Thr1182Ile) rs1057524867 0.00001
NM_000093.5(COL5A1):c.3551C>T (p.Pro1184Leu) rs749093832 0.00001
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys) rs867211079 0.00001
NM_000093.5(COL5A1):c.3622C>T (p.Leu1208Phe) rs863223450 0.00001
NM_000093.5(COL5A1):c.364G>A (p.Glu122Lys) rs1588448757 0.00001
NM_000093.5(COL5A1):c.3656G>C (p.Gly1219Ala) rs1564475073 0.00001
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser) rs1356081271 0.00001
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile) rs769091549 0.00001
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451 0.00001
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg) rs371550819 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000093.5(COL5A1):c.4180C>T (p.Pro1394Ser) rs761962890 0.00001
NM_000093.5(COL5A1):c.4198C>T (p.Pro1400Ser) rs765217611 0.00001
NM_000093.5(COL5A1):c.4201G>A (p.Glu1401Lys) rs1370262542 0.00001
NM_000093.5(COL5A1):c.4210C>A (p.Gln1404Lys) rs1441922749 0.00001
NM_000093.5(COL5A1):c.4234G>A (p.Glu1412Lys) rs376893441 0.00001
NM_000093.5(COL5A1):c.4267G>A (p.Gly1423Ser) rs370151534 0.00001
NM_000093.5(COL5A1):c.4276G>A (p.Gly1426Ser) rs374868484 0.00001
NM_000093.5(COL5A1):c.427C>A (p.His143Asn) rs863223465 0.00001
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly) rs765920886 0.00001
NM_000093.5(COL5A1):c.4333C>T (p.Pro1445Ser) rs757989702 0.00001
NM_000093.5(COL5A1):c.4345C>A (p.Gln1449Lys) rs1838876394 0.00001
NM_000093.5(COL5A1):c.4351C>G (p.Leu1451Val) rs369740453 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.4371G>A (p.Pro1457=) rs756096066 0.00001
NM_000093.5(COL5A1):c.4411G>A (p.Gly1471Ser) rs750864661 0.00001
NM_000093.5(COL5A1):c.458C>A (p.Pro153His) rs771925785 0.00001
NM_000093.5(COL5A1):c.460C>T (p.Leu154Phe) rs1554781521 0.00001
NM_000093.5(COL5A1):c.487G>A (p.Gly163Ser) rs764543567 0.00001
NM_000093.5(COL5A1):c.492-3C>T rs1027866868 0.00001
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.551A>G (p.Lys184Arg) rs1833662587 0.00001
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys) rs765170704 0.00001
NM_000093.5(COL5A1):c.628C>T (p.Arg210Trp) rs1490728700 0.00001
NM_000093.5(COL5A1):c.629G>A (p.Arg210Gln) rs1382944823 0.00001
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp) rs775853003 0.00001
NM_000093.5(COL5A1):c.713A>G (p.Glu238Gly) rs1433120962 0.00001
NM_000093.5(COL5A1):c.727G>A (p.Asp243Asn) rs758431206 0.00001
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro) rs863223440 0.00001
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met) rs1312200383 0.00001
NM_000093.5(COL5A1):c.846C>T (p.Asp282=) rs775736911 0.00001
NM_000093.5(COL5A1):c.962C>T (p.Pro321Leu) rs1085307805 0.00001
NM_000093.5(COL5A1):c.964G>A (p.Glu322Lys) rs199857770 0.00001
NM_000093.5(COL5A1):c.977G>A (p.Gly326Glu) rs748152732 0.00001
NM_000093.5(COL5A1):c.987G>A (p.Lys329=) rs769516996 0.00001
GRCh37/hg19 9q34.3(chr9:137434514-137638766)x3
NC_000009.11:g.(?_137533651)_(137534142_?)dup
NC_000009.11:g.(?_137534028)_(137534148_?)dup
NC_000009.11:g.(?_137534034)_(137630674_?)dup
NC_000009.11:g.(?_137619102)_(137619253_?)del
NC_000009.11:g.(?_137623322)_(137623993_?)del
NC_000009.11:g.(?_137703323)_(137734200_?)del
NC_000009.12:g.(?_134690892)_(134691099_?)del
NC_000009.12:g.(?_134727246)_(134728827_?)del
NC_000009.12:g.(?_134789143)_(134789218_?)dup
NC_000009.12:g.(?_134842147)_(134842313_?)del
NM_000093.5(COL5A1):c.-1C>A
NM_000093.5(COL5A1):c.-276AGG[7] rs886063671
NM_000093.5(COL5A1):c.-287G>C rs886063670
NM_000093.5(COL5A1):c.-357G>T rs886063669
NM_000093.5(COL5A1):c.1011C>G (p.Asp337Glu) rs1834832160
NM_000093.5(COL5A1):c.1013A>G (p.Tyr338Cys)
NM_000093.5(COL5A1):c.1021G>T (p.Val341Leu)
NM_000093.5(COL5A1):c.1024C>T (p.Pro342Ser) rs886039023
NM_000093.5(COL5A1):c.1043C>T (p.Thr348Met) rs1339426358
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_000093.5(COL5A1):c.104G>A (p.Arg35His)
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu) rs887190843
NM_000093.5(COL5A1):c.1060G>A (p.Asp354Asn) rs1834835178
NM_000093.5(COL5A1):c.1063C>T (p.Leu355Phe)
NM_000093.5(COL5A1):c.1066_1068del (p.Thr356del)
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
NM_000093.5(COL5A1):c.1075G>C (p.Glu359Gln)
NM_000093.5(COL5A1):c.1077G>C (p.Glu359Asp)
NM_000093.5(COL5A1):c.1078G>A (p.Gly360Arg)
NM_000093.5(COL5A1):c.1078G>T (p.Gly360Trp)
NM_000093.5(COL5A1):c.1081G>A (p.Glu361Lys) rs1834836876
NM_000093.5(COL5A1):c.109+8179C>T
NM_000093.5(COL5A1):c.1094A>T (p.Asp365Val)
NM_000093.5(COL5A1):c.1097A>G (p.Gln366Arg) rs761227399
NM_000093.5(COL5A1):c.110-3C>G rs1554780148
NM_000093.5(COL5A1):c.1100C>T (p.Pro367Leu) rs1834838212
NM_000093.5(COL5A1):c.1105G>C (p.Asp369His) rs777935807
NM_000093.5(COL5A1):c.1106A>T (p.Asp369Val)
NM_000093.5(COL5A1):c.1111G>A (p.Gly371Ser) rs1834838821
NM_000093.5(COL5A1):c.1115C>G (p.Ala372Gly)
NM_000093.5(COL5A1):c.1130C>A (p.Pro377His) rs868555520
NM_000093.5(COL5A1):c.1144G>T (p.Asp382Tyr)
NM_000093.5(COL5A1):c.1162A>G (p.Asn388Asp)
NM_000093.5(COL5A1):c.1165-2_1169dup rs2132641901
NM_000093.5(COL5A1):c.1165-4G>T rs1834877909
NM_000093.5(COL5A1):c.1193A>G (p.Asp398Gly)
NM_000093.5(COL5A1):c.1195G>A (p.Asp399Asn)
NM_000093.5(COL5A1):c.1197C>G (p.Asp399Glu)
NM_000093.5(COL5A1):c.1201G>C (p.Glu401Gln)
NM_000093.5(COL5A1):c.1204G>T (p.Gly402Trp)
NM_000093.5(COL5A1):c.1209G>T (p.Glu403Asp) rs1564417691
NM_000093.5(COL5A1):c.1222A>G (p.Thr408Ala) rs1588480833
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1228C>G (p.Arg410Gly)
NM_000093.5(COL5A1):c.122A>G (p.Asp41Gly)
NM_000093.5(COL5A1):c.1239C>G (p.Asp413Glu) rs775974461
NM_000093.5(COL5A1):c.1239_1241del (p.Asp413del) rs2132642108
NM_000093.5(COL5A1):c.1246TACTACGACCCC[1] (p.416YYDP[1]) rs745934765
NM_000093.5(COL5A1):c.1246TACTACGACCCC[3] (p.416YYDP[3]) rs745934765
NM_000093.5(COL5A1):c.1264G>A (p.Asp422Asn)
NM_000093.5(COL5A1):c.1266C>G (p.Asp422Glu)
NM_000093.5(COL5A1):c.126_128del (p.Leu43del) rs1564390373
NM_000093.5(COL5A1):c.1271C>T (p.Thr424Ile)
NM_000093.5(COL5A1):c.1274G>A (p.Ser425Asn)
NM_000093.5(COL5A1):c.1287G>T (p.Glu429Asp) rs2132642256
NM_000093.5(COL5A1):c.128T>G (p.Leu43Arg) rs2132550843
NM_000093.5(COL5A1):c.1298G>C (p.Gly433Ala) rs2132642300
NM_000093.5(COL5A1):c.12T>G (p.His4Gln) rs368818087
NM_000093.5(COL5A1):c.1316A>T (p.Asp439Val) rs1060502244
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
NM_000093.5(COL5A1):c.1332+3G>A
NM_000093.5(COL5A1):c.1332+5G>A rs1564417882
NM_000093.5(COL5A1):c.1333-19T>A rs2132643213
NM_000093.5(COL5A1):c.1333-3C>G rs1238061655
NM_000093.5(COL5A1):c.1333-6_1333-5insAGATTGTC rs1588481731
NM_000093.5(COL5A1):c.1352A>T (p.Glu451Val) rs1060502243
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
NM_000093.5(COL5A1):c.1370A>G (p.Glu457Gly) rs2132643376
NM_000093.5(COL5A1):c.1384G>C (p.Glu462Gln) rs761770226
NM_000093.5(COL5A1):c.1387C>G (p.Pro463Ala)
NM_000093.5(COL5A1):c.1387C>T (p.Pro463Ser) rs368168386
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.5(COL5A1):c.1406_1407delinsAA (p.Gly469Glu)
NM_000093.5(COL5A1):c.1429G>A (p.Ala477Thr) rs774936702
NM_000093.5(COL5A1):c.1429G>T (p.Ala477Ser) rs774936702
NM_000093.5(COL5A1):c.1431+5G>C rs1835185397
NM_000093.5(COL5A1):c.1431+6T>G rs2132655326
NM_000093.5(COL5A1):c.1432G>A (p.Gly478Ser)
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.1435C>T (p.Leu479Phe)
NM_000093.5(COL5A1):c.1441G>A (p.Gly481Arg) rs1835194865
NM_000093.5(COL5A1):c.1442G>T (p.Gly481Val) rs1588488587
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu) rs565329216
NM_000093.5(COL5A1):c.1454C>T (p.Thr485Ile)
NM_000093.5(COL5A1):c.1463C>G (p.Pro488Arg) rs2132655977
NM_000093.5(COL5A1):c.1475T>C (p.Val492Ala)
NM_000093.5(COL5A1):c.1495-7T>A rs1835738568
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.5(COL5A1):c.1522G>A (p.Gly508Arg)
NM_000093.5(COL5A1):c.1535T>C (p.Leu512Pro) rs863223442
NM_000093.5(COL5A1):c.1537C>T (p.Pro513Ser)
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.1544C>T (p.Pro515Leu) rs1449896543
NM_000093.5(COL5A1):c.1553C>T (p.Thr518Ile)
NM_000093.5(COL5A1):c.1556T>C (p.Met519Thr) rs202069285
NM_000093.5(COL5A1):c.1569+15_1569+16inv
NM_000093.5(COL5A1):c.1569+6T>C rs1588502477
NM_000093.5(COL5A1):c.157G>C (p.Asp53His) rs763026096
NM_000093.5(COL5A1):c.1628A>G (p.Glu543Gly) rs2132683265
NM_000093.5(COL5A1):c.162A>T (p.Gly54=) rs764431997
NM_000093.5(COL5A1):c.1648C>T (p.Leu550Phe)
NM_000093.5(COL5A1):c.164T>A (p.Ile55Lys)
NM_000093.5(COL5A1):c.1658C>T (p.Ala553Val) rs767143136
NM_000093.5(COL5A1):c.1662+6T>C
NM_000093.5(COL5A1):c.1671G>A (p.Leu557=)
NM_000093.5(COL5A1):c.1687C>G (p.Pro563Ala)
NM_000093.5(COL5A1):c.1687C>T (p.Pro563Ser)
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.5(COL5A1):c.16C>T (p.Arg6Cys)
NM_000093.5(COL5A1):c.1703G>T (p.Gly568Val)
NM_000093.5(COL5A1):c.1715C>A (p.Pro572His) rs1835824786
NM_000093.5(COL5A1):c.1720-3T>C rs960627780
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
NM_000093.5(COL5A1):c.1724C>G (p.Pro575Arg)
NM_000093.5(COL5A1):c.1724C>T (p.Pro575Leu) rs1192447986
NM_000093.5(COL5A1):c.1726C>A (p.Pro576Thr)
NM_000093.5(COL5A1):c.175A>G (p.Thr59Ala) rs751649145
NM_000093.5(COL5A1):c.1762G>C (p.Val588Leu)
NM_000093.5(COL5A1):c.1780C>G (p.Arg594Gly) rs1554792869
NM_000093.5(COL5A1):c.1781G>A (p.Arg594Gln)
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.5(COL5A1):c.17G>T (p.Arg6Leu)
NM_000093.5(COL5A1):c.1810G>A (p.Gly604Arg)
NM_000093.5(COL5A1):c.1816C>T (p.Pro606Ser) rs1588506358
NM_000093.5(COL5A1):c.1819G>A (p.Gly607Arg)
NM_000093.5(COL5A1):c.1826G>A (p.Arg609Gln)
NM_000093.5(COL5A1):c.1826G>T (p.Arg609Leu)
NM_000093.5(COL5A1):c.1830T>C (p.Gly610=) rs886063675
NM_000093.5(COL5A1):c.1850C>A (p.Ala617Asp)
NM_000093.5(COL5A1):c.1850C>T (p.Ala617Val) rs1588508705
NM_000093.5(COL5A1):c.1881+3A>G
NM_000093.5(COL5A1):c.1881+4G>A
NM_000093.5(COL5A1):c.1886A>G (p.Asp629Gly) rs2132698898
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1926G>T (p.Lys642Asn) rs918992441
NM_000093.5(COL5A1):c.1930C>T (p.His644Tyr) rs1836060732
NM_000093.5(COL5A1):c.1937G>A (p.Gly646Asp)
NM_000093.5(COL5A1):c.1949C>G (p.Pro650Arg) rs150890005
NM_000093.5(COL5A1):c.1949C>T (p.Pro650Leu) rs150890005
NM_000093.5(COL5A1):c.197G>C (p.Arg66Pro) rs146074704
NM_000093.5(COL5A1):c.1989+5G>C
NM_000093.5(COL5A1):c.1989G>C (p.Arg663Ser) rs774093862
NM_000093.5(COL5A1):c.198A>G (p.Arg66=) rs1463204835
NM_000093.5(COL5A1):c.19T>C (p.Trp7Arg)
NM_000093.5(COL5A1):c.2002G>C (p.Glu668Gln) rs764603796
NM_000093.5(COL5A1):c.202T>C (p.Ser68Pro) rs1554780172
NM_000093.5(COL5A1):c.2030A>T (p.Glu677Val) rs1564443811
NM_000093.5(COL5A1):c.2041C>T (p.Arg681Cys) rs1564445192
NM_000093.5(COL5A1):c.2042G>T (p.Arg681Leu)
NM_000093.5(COL5A1):c.2044G>A (p.Gly682Ser) rs1588524307
NM_000093.5(COL5A1):c.2068C>G (p.Pro690Ala)
NM_000093.5(COL5A1):c.2071G>T (p.Gly691Cys)
NM_000093.5(COL5A1):c.2088+4dup rs1836638328
NM_000093.5(COL5A1):c.2088+5G>T
NM_000093.5(COL5A1):c.2089-62C>T
NM_000093.5(COL5A1):c.2092_2093delinsCA (p.Val698His) rs1554796087
NM_000093.5(COL5A1):c.212C>G (p.Pro71Arg)
NM_000093.5(COL5A1):c.2138C>T (p.Pro713Leu)
NM_000093.5(COL5A1):c.2149C>T (p.Pro717Ser)
NM_000093.5(COL5A1):c.2155C>T (p.Pro719Ser) rs1564446104
NM_000093.5(COL5A1):c.2162G>A (p.Gly721Glu)
NM_000093.5(COL5A1):c.2182G>C (p.Ala728Pro)
NM_000093.5(COL5A1):c.2187+19G>A
NM_000093.5(COL5A1):c.2187+4A>G rs919497204
NM_000093.5(COL5A1):c.2187+6T>C rs1836698236
NM_000093.5(COL5A1):c.2191C>G (p.Leu731Val)
NM_000093.5(COL5A1):c.2209G>A (p.Ala737Thr) rs2132729311
NM_000093.5(COL5A1):c.2210C>G (p.Ala737Gly)
NM_000093.5(COL5A1):c.2232+4G>C rs1060502257
NM_000093.5(COL5A1):c.2233-3T>C
NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg) rs1588527590
NM_000093.5(COL5A1):c.2262A>T (p.Gly754=) rs1836755970
NM_000093.5(COL5A1):c.2266C>T (p.Pro756Ser)
NM_000093.5(COL5A1):c.226A>G (p.Arg76Gly)
NM_000093.5(COL5A1):c.2275G>C (p.Asp759His)
NM_000093.5(COL5A1):c.2281C>A (p.Pro761Thr)
NM_000093.5(COL5A1):c.2284C>A (p.Pro762Thr)
NM_000093.5(COL5A1):c.2285C>A (p.Pro762Gln)
NM_000093.5(COL5A1):c.2294C>G (p.Pro765Arg)
NM_000093.5(COL5A1):c.2312C>G (p.Pro771Arg) rs1554797269
NM_000093.5(COL5A1):c.2318A>T (p.Glu773Val) rs759963647
NM_000093.5(COL5A1):c.2321A>C (p.Lys774Thr) rs1564449370
NM_000093.5(COL5A1):c.2331+3G>C
NM_000093.5(COL5A1):c.2331+4G>C rs1588532335
NM_000093.5(COL5A1):c.2331+4_2331+5dup
NM_000093.5(COL5A1):c.2331G>A (p.Gln777=) rs1588532322
NM_000093.5(COL5A1):c.2332-5T>G rs2132747878
NM_000093.5(COL5A1):c.2332-9T>A
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000093.5(COL5A1):c.2335C>T (p.Pro779Ser)
NM_000093.5(COL5A1):c.2365C>G (p.Pro789Ala)
NM_000093.5(COL5A1):c.2366C>G (p.Pro789Arg)
NM_000093.5(COL5A1):c.2375G>A (p.Arg792Gln)
NM_000093.5(COL5A1):c.2383A>G (p.Lys795Glu) rs2132748056
NM_000093.5(COL5A1):c.2385+3G>A
NM_000093.5(COL5A1):c.2385G>A (p.Lys795=) rs1554797638
NM_000093.5(COL5A1):c.2386-8C>A rs1588539610
NM_000093.5(COL5A1):c.2390C>A (p.Ala797Asp)
NM_000093.5(COL5A1):c.2392G>A (p.Asp798Asn) rs979271877
NM_000093.5(COL5A1):c.2401C>T (p.Arg801Cys)
NM_000093.5(COL5A1):c.2419A>G (p.Lys807Glu)
NM_000093.5(COL5A1):c.2426A>G (p.Glu809Gly)
NM_000093.5(COL5A1):c.242C>T (p.Ala81Val)
NM_000093.5(COL5A1):c.2430+19_2430+20delinsTT
NM_000093.5(COL5A1):c.2430+5G>T
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.5(COL5A1):c.2435A>G (p.Glu812Gly)
NM_000093.5(COL5A1):c.2437G>T (p.Asp813Tyr) rs1837306111
NM_000093.5(COL5A1):c.246G>T (p.Gln82His) rs777607116
NM_000093.5(COL5A1):c.2482C>G (p.Arg828Gly)
NM_000093.5(COL5A1):c.2485-14T>C
NM_000093.5(COL5A1):c.2489A>G (p.Glu830Gly)
NM_000093.5(COL5A1):c.2492T>G (p.Ile831Ser)
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.2500C>T (p.Pro834Ser)
NM_000093.5(COL5A1):c.2503G>A (p.Gly835Ser) rs927467876
NM_000093.5(COL5A1):c.2518G>C (p.Asp840His) rs1564457054
NM_000093.5(COL5A1):c.2524C>A (p.Pro842Thr) rs1588545921
NM_000093.5(COL5A1):c.2551C>T (p.Pro851Ser)
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2558G>A (p.Gly853Asp)
NM_000093.5(COL5A1):c.2578C>T (p.Pro860Ser)
NM_000093.5(COL5A1):c.257CCA[1] (p.Thr87del) rs2132551178
NM_000093.5(COL5A1):c.2602G>A (p.Gly868Arg)
NM_000093.5(COL5A1):c.2633G>C (p.Arg878Thr)
NM_000093.5(COL5A1):c.2646+16del rs1837447151
NM_000093.5(COL5A1):c.2647-3C>G rs746511717
NM_000093.5(COL5A1):c.2647-3C>T
NM_000093.5(COL5A1):c.2647G>A (p.Gly883Ser)
NM_000093.5(COL5A1):c.2653A>C (p.Ile885Leu)
NM_000093.5(COL5A1):c.266A>G (p.Gln89Arg) rs1554780187
NM_000093.5(COL5A1):c.2670T>G (p.Phe890Leu)
NM_000093.5(COL5A1):c.2674_2675delinsCT (p.Gly892Leu) rs2132784450
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.2693G>T (p.Gly898Val) rs910417046
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2705C>T (p.Thr902Ile) rs1239938844
NM_000093.5(COL5A1):c.2715G>T (p.Lys905Asn) rs533217850
NM_000093.5(COL5A1):c.2735G>A (p.Arg912Gln) rs1437668038
NM_000093.5(COL5A1):c.2740C>T (p.Pro914Ser) rs2132802525
NM_000093.5(COL5A1):c.2741C>T (p.Pro914Leu)
NM_000093.5(COL5A1):c.2759A>G (p.Glu920Gly)
NM_000093.5(COL5A1):c.277+15C>A
NM_000093.5(COL5A1):c.277+6T>C
NM_000093.5(COL5A1):c.2771G>C (p.Arg924Pro) rs768711320
NM_000093.5(COL5A1):c.2777T>C (p.Ile926Thr)
NM_000093.5(COL5A1):c.2789C>G (p.Pro930Arg)
NM_000093.5(COL5A1):c.278C>G (p.Ala93Gly) rs41306397
NM_000093.5(COL5A1):c.2798A>G (p.Lys933Arg)
NM_000093.5(COL5A1):c.2799+12_2799+13delinsCT
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=) rs1554801686
NM_000093.5(COL5A1):c.2807C>G (p.Ser936Cys)
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg) rs1330022009
NM_000093.5(COL5A1):c.2842C>T (p.Arg948Trp) rs1030105888
NM_000093.5(COL5A1):c.2844+3A>G rs2132806641
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=) rs1421835224
NM_000093.5(COL5A1):c.2851A>C (p.Asn951His) rs1588560410
NM_000093.5(COL5A1):c.2857C>T (p.Pro953Ser) rs773946732
NM_000093.5(COL5A1):c.2866C>A (p.Pro956Thr) rs2132807920
NM_000093.5(COL5A1):c.2870C>T (p.Thr957Ile)
NM_000093.5(COL5A1):c.2882G>A (p.Gly961Glu) rs2132807966
NM_000093.5(COL5A1):c.2891G>T (p.Gly964Val)
NM_000093.5(COL5A1):c.2893C>T (p.Pro965Ser) rs755051823
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu) rs376435205
NM_000093.5(COL5A1):c.2902C>G (p.Pro968Ala) rs1564466152
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser) rs759627305
NM_000093.5(COL5A1):c.2923C>G (p.Pro975Ala) rs2132811634
NM_000093.5(COL5A1):c.2929C>G (p.His977Asp)
NM_000093.5(COL5A1):c.2931C>A (p.His977Gln) rs1564466171
NM_000093.5(COL5A1):c.2950A>T (p.Thr984Ser) rs1837995693
NM_000093.5(COL5A1):c.2952T>C (p.Thr984=)
NM_000093.5(COL5A1):c.296A>G (p.Asp99Gly) rs2132569560
NM_000093.5(COL5A1):c.2983C>G (p.Pro995Ala) rs187022757
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.2984C>T (p.Pro995Leu)
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala) rs774351619
NM_000093.5(COL5A1):c.2988C>A (p.Pro996=) rs374409202
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.5(COL5A1):c.2992G>C (p.Val998Leu) rs776676564
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser) rs765082093
NM_000093.5(COL5A1):c.3006+5G>A
NM_000093.5(COL5A1):c.3007-14G>A rs1838163235
NM_000093.5(COL5A1):c.3007-6_3007-5delinsAG
NM_000093.5(COL5A1):c.3013A>G (p.Thr1005Ala) rs863223446
NM_000093.5(COL5A1):c.301T>C (p.Ser101Pro) rs1554781476
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.5(COL5A1):c.3055C>A (p.Pro1019Thr)
NM_000093.5(COL5A1):c.3055C>G (p.Pro1019Ala) rs193920927
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_000093.5(COL5A1):c.3067C>A (p.Pro1023Thr) rs1838166559
NM_000093.5(COL5A1):c.3085C>T (p.Pro1029Ser)
NM_000093.5(COL5A1):c.3086C>A (p.Pro1029Gln) rs768531108
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del) rs863223476
NM_000093.5(COL5A1):c.3114G>A (p.Lys1038=)
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) rs751792216
NM_000093.5(COL5A1):c.3125G>T (p.Gly1042Val) rs2132827065
NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu)
NM_000093.5(COL5A1):c.3170G>A (p.Gly1057Asp) rs1554803568
NM_000093.5(COL5A1):c.3185G>C (p.Arg1062Pro) rs771807198
NM_000093.5(COL5A1):c.3185G>T (p.Arg1062Leu) rs771807198
NM_000093.5(COL5A1):c.3194C>T (p.Pro1065Leu) rs2132827329
NM_000093.5(COL5A1):c.3196G>A (p.Gly1066Ser) rs1838247641
NM_000093.5(COL5A1):c.3197G>C (p.Gly1066Ala) rs2132827340
NM_000093.5(COL5A1):c.3205-20A>G rs1198283460
NM_000093.5(COL5A1):c.3209C>T (p.Ala1070Val) rs2132827686
NM_000093.5(COL5A1):c.3211C>T (p.Leu1071Phe)
NM_000093.5(COL5A1):c.3233G>A (p.Gly1078Glu) rs1554803631
NM_000093.5(COL5A1):c.3236C>T (p.Pro1079Leu) rs863223447
NM_000093.5(COL5A1):c.3254C>T (p.Pro1085Leu) rs1588570027
NM_000093.5(COL5A1):c.3258G>T (p.Ala1086=)
NM_000093.5(COL5A1):c.3259-5C>T
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3263C>G (p.Ser1088Cys) rs1383949759
NM_000093.5(COL5A1):c.3287G>A (p.Gly1096Glu)
NM_000093.5(COL5A1):c.3290C>T (p.Ala1097Val)
NM_000093.5(COL5A1):c.3292G>T (p.Ala1098Ser)
NM_000093.5(COL5A1):c.32G>T (p.Ser11Ile)
NM_000093.5(COL5A1):c.3310C>T (p.Pro1104Ser) rs1838292124
NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg) rs1377049332
NM_000093.5(COL5A1):c.3313G>A (p.Gly1105Arg)
NM_000093.5(COL5A1):c.3317G>A (p.Arg1106Lys) rs1838292501
NM_000093.5(COL5A1):c.3334C>T (p.Pro1112Ser) rs1204892518
NM_000093.5(COL5A1):c.3337C>T (p.Pro1113Ser) rs1342258419
NM_000093.5(COL5A1):c.3344C>A (p.Pro1115Gln) rs139039658
NM_000093.5(COL5A1):c.3353A>T (p.Glu1118Val)
NM_000093.5(COL5A1):c.3373A>G (p.Lys1125Glu)
NM_000093.5(COL5A1):c.3382C>A (p.Gln1128Lys) rs1838417062
NM_000093.5(COL5A1):c.3383A>G (p.Gln1128Arg)
NM_000093.5(COL5A1):c.3385G>A (p.Gly1129Ser)
NM_000093.5(COL5A1):c.3386G>T (p.Gly1129Val)
NM_000093.5(COL5A1):c.3389C>T (p.Pro1130Leu) rs1838417405
NM_000093.5(COL5A1):c.3403G>A (p.Gly1135Ser) rs775559638
NM_000093.5(COL5A1):c.3412G>T (p.Gly1138Trp) rs2132838695
NM_000093.5(COL5A1):c.3415C>T (p.Pro1139Ser) rs1838418529
NM_000093.5(COL5A1):c.341C>G (p.Ala114Gly)
NM_000093.5(COL5A1):c.3421G>C (p.Gly1141Arg) rs1269224473
NM_000093.5(COL5A1):c.3433C>G (p.Pro1145Ala)
NM_000093.5(COL5A1):c.343T>A (p.Phe115Ile) rs1564396163
NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg)
NM_000093.5(COL5A1):c.3452C>T (p.Pro1151Leu)
NM_000093.5(COL5A1):c.3466G>A (p.Gly1156Arg)
NM_000093.5(COL5A1):c.3474+5G>A
NM_000093.5(COL5A1):c.3474+6G>A
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu) rs1838466921
NM_000093.5(COL5A1):c.3483C>G (p.Ile1161Met)
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3509A>G (p.Lys1170Arg) rs2132841141
NM_000093.5(COL5A1):c.350T>G (p.Val117Gly) rs1554781492
NM_000093.5(COL5A1):c.3511G>A (p.Gly1171Arg) rs2132841157
NM_000093.5(COL5A1):c.3528+4_3528+7dup
NM_000093.5(COL5A1):c.3528+5G>A
NM_000093.5(COL5A1):c.353C>G (p.Ser118Cys) rs1554781494
NM_000093.5(COL5A1):c.3560C>T (p.Pro1187Leu)
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val) rs1588577285
NM_000093.5(COL5A1):c.3564C>T (p.Ile1188=) rs766961124
NM_000093.5(COL5A1):c.3570G>T (p.Gln1190His)
NM_000093.5(COL5A1):c.3575G>A (p.Gly1192Asp) rs2132844472
NM_000093.5(COL5A1):c.3577C>A (p.Pro1193Thr) rs531886361
NM_000093.5(COL5A1):c.3578C>T (p.Pro1193Leu) rs2132844501
NM_000093.5(COL5A1):c.3582+18A>G
NM_000093.5(COL5A1):c.3582+4A>C rs1064796967
NM_000093.5(COL5A1):c.3583-33_3583-15del
NM_000093.5(COL5A1):c.3583-7C>G rs1330304599
NM_000093.5(COL5A1):c.3584_3585delinsAT (p.Gly1195Asp) rs1060502247
NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln) rs867211079
NM_000093.5(COL5A1):c.35C>A (p.Ala12Glu) rs995895784
NM_000093.5(COL5A1):c.3607C>G (p.Arg1203Gly)
NM_000093.5(COL5A1):c.3607C>T (p.Arg1203Trp)
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln) rs1838524385
NM_000093.5(COL5A1):c.3609G>C (p.Arg1203=) rs369518896
NM_000093.5(COL5A1):c.3617A>G (p.Gln1206Arg) rs1838524740
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu) rs748000980
NM_000093.5(COL5A1):c.3637G>A (p.Gly1213Ser)
NM_000093.5(COL5A1):c.3643G>A (p.Glu1215Lys) rs2132845104
NM_000093.5(COL5A1):c.364G>C (p.Glu122Gln) rs1588448757
NM_000093.5(COL5A1):c.365A>G (p.Glu122Gly) rs886063673
NM_000093.5(COL5A1):c.3662C>T (p.Pro1221Leu)
NM_000093.5(COL5A1):c.3665G>A (p.Gly1222Glu)
NM_000093.5(COL5A1):c.3667C>T (p.Pro1223Ser) rs1411675246
NM_000093.5(COL5A1):c.3690+2dup rs2132845264
NM_000093.5(COL5A1):c.3691-3C>A
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_000093.5(COL5A1):c.3703C>T (p.Pro1235Ser)
NM_000093.5(COL5A1):c.3711C>T (p.Gly1237=) rs763583510
NM_000093.5(COL5A1):c.3720T>C (p.Gly1240=) rs1554805072
NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His)
NM_000093.5(COL5A1):c.3742A>G (p.Met1248Val) rs767843442
NM_000093.5(COL5A1):c.3744+6T>A
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala) rs533597740
NM_000093.5(COL5A1):c.374T>G (p.Ile125Ser) rs1833612402
NM_000093.5(COL5A1):c.3757C>T (p.Pro1253Ser)
NM_000093.5(COL5A1):c.3760C>T (p.Pro1254Ser) rs1554805125
NM_000093.5(COL5A1):c.3764G>A (p.Gly1255Asp) rs1064796975
NM_000093.5(COL5A1):c.3775C>G (p.Pro1259Ala) rs1352207961
NM_000093.5(COL5A1):c.3781G>A (p.Gly1261Arg) rs772445337
NM_000093.5(COL5A1):c.380A>G (p.Gln127Arg)
NM_000093.5(COL5A1):c.3811C>T (p.Pro1271Ser)
NM_000093.5(COL5A1):c.3812C>G (p.Pro1271Arg) rs771146636
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
NM_000093.5(COL5A1):c.3827G>T (p.Gly1276Val) rs2132848301
NM_000093.5(COL5A1):c.383T>C (p.Ile128Thr) rs863223464
NM_000093.5(COL5A1):c.3844G>A (p.Gly1282Arg) rs1838574740
NM_000093.5(COL5A1):c.384del (p.Ile128fs) rs1833612720
NM_000093.5(COL5A1):c.3852+4A>T
NM_000093.5(COL5A1):c.385G>A (p.Gly129Arg) rs2132569874
NM_000093.5(COL5A1):c.3865G>A (p.Glu1289Lys)
NM_000093.5(COL5A1):c.386G>A (p.Gly129Glu) rs1833612785
NM_000093.5(COL5A1):c.3873T>C (p.Gly1291=)
NM_000093.5(COL5A1):c.3874G>A (p.Glu1292Lys) rs1319735007
NM_000093.5(COL5A1):c.3878C>T (p.Pro1293Leu)
NM_000093.5(COL5A1):c.388C>G (p.Leu130Val)
NM_000093.5(COL5A1):c.3899G>C (p.Gly1300Ala)
NM_000093.5(COL5A1):c.3905C>G (p.Pro1302Arg) rs201920777
NM_000093.5(COL5A1):c.3905C>T (p.Pro1302Leu) rs201920777
NM_000093.5(COL5A1):c.3906+8A>G
NM_000093.5(COL5A1):c.3911C>T (p.Pro1304Leu) rs1554805618
NM_000093.5(COL5A1):c.3916G>A (p.Gly1306Arg) rs1588581652
NM_000093.5(COL5A1):c.3928G>A (p.Glu1310Lys)
NM_000093.5(COL5A1):c.3937G>A (p.Glu1313Lys)
NM_000093.5(COL5A1):c.3938A>G (p.Glu1313Gly) rs2132853684
NM_000093.5(COL5A1):c.3941C>T (p.Ser1314Leu) rs2132853691
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) rs1838678972
NM_000093.5(COL5A1):c.3953G>T (p.Gly1318Val)
NM_000093.5(COL5A1):c.3958G>T (p.Ala1320Ser)
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) rs2132853817
NM_000093.5(COL5A1):c.3983C>T (p.Pro1328Leu)
NM_000093.5(COL5A1):c.3985C>T (p.Pro1329Ser) rs1462221629
NM_000093.5(COL5A1):c.3988G>A (p.Gly1330Arg) rs1060502254
NM_000093.5(COL5A1):c.4000C>A (p.Pro1334Thr)
NM_000093.5(COL5A1):c.4000C>T (p.Pro1334Ser) rs759198874
NM_000093.5(COL5A1):c.4014+4del rs2132854046
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4039C>G (p.Pro1347Ala)
NM_000093.5(COL5A1):c.4039C>T (p.Pro1347Ser) rs769470285
NM_000093.5(COL5A1):c.4043G>C (p.Gly1348Ala) rs1060502252
NM_000093.5(COL5A1):c.4048C>A (p.Pro1350Thr)
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.5(COL5A1):c.4049C>T (p.Pro1350Leu) rs1255890421
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4051G>A (p.Gly1351Arg)
NM_000093.5(COL5A1):c.4064C>T (p.Pro1355Leu) rs2132855475
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
NM_000093.5(COL5A1):c.4073A>C (p.Gln1358Pro)
NM_000093.5(COL5A1):c.4081C>T (p.Pro1361Ser)
NM_000093.5(COL5A1):c.4082C>T (p.Pro1361Leu)
NM_000093.5(COL5A1):c.4084C>T (p.Pro1362Ser) rs2132856128
NM_000093.5(COL5A1):c.4085C>T (p.Pro1362Leu) rs1170899907
NM_000093.5(COL5A1):c.409G>T (p.Val137Phe) rs145757313
NM_000093.5(COL5A1):c.40C>T (p.Arg14Cys)
NM_000093.5(COL5A1):c.4110A>G (p.Glu1370=) rs1588583076
NM_000093.5(COL5A1):c.4122+1_4122+42dup rs2132856269
NM_000093.5(COL5A1):c.4122+4A>C
NM_000093.5(COL5A1):c.4122+4A>G
NM_000093.5(COL5A1):c.4126T>C (p.Ser1376Pro) rs869025373
NM_000093.5(COL5A1):c.4132G>T (p.Gly1378Cys)
NM_000093.5(COL5A1):c.4139C>A (p.Thr1380Asn) rs863223439
NM_000093.5(COL5A1):c.4144G>A (p.Glu1382Lys) rs1554806121
NM_000093.5(COL5A1):c.4150G>C (p.Gly1384Arg) rs2132858757
NM_000093.5(COL5A1):c.4151G>T (p.Gly1384Val)
NM_000093.5(COL5A1):c.4175G>A (p.Arg1392Lys) rs863223479
NM_000093.5(COL5A1):c.4176+3A>T rs1554806134
NM_000093.5(COL5A1):c.4184CAGGCCCCG[3] (p.Ala1398_Pro1400dup) rs2132861348
NM_000093.5(COL5A1):c.4189C>T (p.Pro1397Ser) rs1838819571
NM_000093.5(COL5A1):c.4192G>T (p.Ala1398Ser) rs759464073
NM_000093.5(COL5A1):c.4197C>T (p.Gly1399=) rs1397888531
NM_000093.5(COL5A1):c.4212G>C (p.Gln1404His) rs1554806295
NM_000093.5(COL5A1):c.4230+5C>A
NM_000093.5(COL5A1):c.4230+5_4230+6delinsTA
NM_000093.5(COL5A1):c.4231-3C>T
NM_000093.5(COL5A1):c.4235A>T (p.Glu1412Val) rs1838863376
NM_000093.5(COL5A1):c.4238C>A (p.Ala1413Asp) rs1564480902
NM_000093.5(COL5A1):c.423G>A (p.Glu141=) rs2132569993
NM_000093.5(COL5A1):c.4245G>C (p.Leu1415Phe)
NM_000093.5(COL5A1):c.4255C>T (p.Pro1419Ser)
NM_000093.5(COL5A1):c.4256C>T (p.Pro1419Leu) rs2132864006
NM_000093.5(COL5A1):c.4259G>A (p.Gly1420Glu)
NM_000093.5(COL5A1):c.4262A>T (p.Lys1421Met) rs1838864887
NM_000093.5(COL5A1):c.4275C>G (p.Ile1425Met) rs767372665
NM_000093.5(COL5A1):c.4282C>G (p.Gln1428Glu)
NM_000093.5(COL5A1):c.4285_4286delinsTT (p.Gly1429Leu)
NM_000093.5(COL5A1):c.4288G>A (p.Ala1430Thr) rs863223455
NM_000093.5(COL5A1):c.4297A>G (p.Lys1433Glu) rs1554806543
NM_000093.5(COL5A1):c.4315C>T (p.Leu1439Phe)
NM_000093.5(COL5A1):c.431C>A (p.Thr144Lys) rs561761305
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
NM_000093.5(COL5A1):c.4338+5G>A rs1352729728
NM_000093.5(COL5A1):c.4339-3C>G rs545993723
NM_000093.5(COL5A1):c.433G>A (p.Gly145Arg)
NM_000093.5(COL5A1):c.4346A>G (p.Gln1449Arg)
NM_000093.5(COL5A1):c.4347A>G (p.Gln1449=) rs1300586902
NM_000093.5(COL5A1):c.4351C>A (p.Leu1451Ile) rs369740453
NM_000093.5(COL5A1):c.4351C>T (p.Leu1451Phe)
NM_000093.5(COL5A1):c.4358G>T (p.Gly1453Val) rs1588587440
NM_000093.5(COL5A1):c.4366G>A (p.Gly1456Ser) rs1564481153
NM_000093.5(COL5A1):c.4367G>T (p.Gly1456Val) rs1564481157
NM_000093.5(COL5A1):c.4368C>T (p.Gly1456=) rs1213186421
NM_000093.5(COL5A1):c.4369C>T (p.Pro1457Ser)
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu) rs201335857
NM_000093.5(COL5A1):c.4381C>G (p.Pro1461Ala)
NM_000093.5(COL5A1):c.4387C>G (p.Pro1463Ala)
NM_000093.5(COL5A1):c.4392+18T>C
NM_000093.5(COL5A1):c.4392+4A>C rs863223456
NM_000093.5(COL5A1):c.4392+5G>A rs886043312
NM_000093.5(COL5A1):c.4392+6_4392+24dup
NM_000093.5(COL5A1):c.43C>T (p.Pro15Ser)
NM_000093.5(COL5A1):c.4408C>G (p.Pro1470Ala)
NM_000093.5(COL5A1):c.441T>C (p.Pro147=) rs1833615155
NM_000093.5(COL5A1):c.4423G>C (p.Asp1475His) rs1554806674
NM_000093.5(COL5A1):c.4426T>C (p.Ser1476Pro)
NM_000093.5(COL5A1):c.4427C>A (p.Ser1476Tyr)
NM_000093.5(COL5A1):c.4446G>C (p.Lys1482Asn)
NM_000093.5(COL5A1):c.458C>T (p.Pro153Leu) rs771925785
NM_000093.5(COL5A1):c.484G>C (p.Asp162His) rs1564396342
NM_000093.5(COL5A1):c.487_488delinsTT (p.Gly163Phe) rs2132570241
NM_000093.5(COL5A1):c.491+3A>C rs1554781526
NM_000093.5(COL5A1):c.491+5G>C rs2132570262
NM_000093.5(COL5A1):c.497A>G (p.His166Arg) rs1057524357
NM_000093.5(COL5A1):c.499A>G (p.Arg167Gly)
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[1] (p.Pro21_Leu24del)
NM_000093.5(COL5A1):c.50CCCCGCTGCTGC[3] (p.Pro21_Leu24dup) rs1444295577
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp) rs1554781678
NM_000093.5(COL5A1):c.523A>C (p.Lys175Gln)
NM_000093.5(COL5A1):c.527A>G (p.Asn176Ser)
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
NM_000093.5(COL5A1):c.53C>G (p.Pro18Arg)
NM_000093.5(COL5A1):c.544G>T (p.Asp182Tyr)
NM_000093.5(COL5A1):c.547_576dup (p.Asp192_Arg193insCysLysLysLysThrThrLysPheLeuAsp)
NM_000093.5(COL5A1):c.548G>A (p.Cys183Tyr) rs1060502251
NM_000093.5(COL5A1):c.550A>G (p.Lys184Glu) rs2132572947
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
NM_000093.5(COL5A1):c.580A>G (p.Ser194Gly) rs2132573049
NM_000093.5(COL5A1):c.589C>T (p.Pro197Ser)
NM_000093.5(COL5A1):c.590C>T (p.Pro197Leu) rs1365787866
NM_000093.5(COL5A1):c.592A>G (p.Met198Val) rs1833664488
NM_000093.5(COL5A1):c.594G>A (p.Met198Ile)
NM_000093.5(COL5A1):c.599A>C (p.Asp200Ala) rs1554781695
NM_000093.5(COL5A1):c.608G>A (p.Gly203Asp)
NM_000093.5(COL5A1):c.613A>G (p.Ile205Val) rs1833666024
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
NM_000093.5(COL5A1):c.616G>T (p.Val206Leu) rs777065347
NM_000093.5(COL5A1):c.620T>G (p.Phe207Cys) rs2132573278
NM_000093.5(COL5A1):c.621T>G (p.Phe207Leu)
NM_000093.5(COL5A1):c.622G>A (p.Gly208Ser)
NM_000093.5(COL5A1):c.62C>T (p.Pro21Leu) rs2132454969
NM_000093.5(COL5A1):c.640G>A (p.Glu214Lys) rs763107415
NM_000093.5(COL5A1):c.64C>G (p.Pro22Ala)
NM_000093.5(COL5A1):c.658G>A (p.Asp220Asn)
NM_000093.5(COL5A1):c.668A>C (p.Gln223Pro)
NM_000093.5(COL5A1):c.668A>G (p.Gln223Arg) rs1554787531
NM_000093.5(COL5A1):c.67CTG[3] (p.Leu26_Leu28del) rs773994971
NM_000093.5(COL5A1):c.67CTG[4] (p.Leu27_Leu28del)
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000093.5(COL5A1):c.67CTG[8] (p.Leu27_Leu28dup) rs773994971
NM_000093.5(COL5A1):c.67CTG[9] (p.Leu26_Leu28dup) rs773994971
NM_000093.5(COL5A1):c.695C>A (p.Ala232Glu)
NM_000093.5(COL5A1):c.6C>G (p.Asp2Glu) rs1064796482
NM_000093.5(COL5A1):c.707A>G (p.Tyr236Cys) rs2132632715
NM_000093.5(COL5A1):c.709T>C (p.Cys237Arg) rs2132632719
NM_000093.5(COL5A1):c.710G>A (p.Cys237Tyr) rs1588475947
NM_000093.5(COL5A1):c.716A>G (p.His239Arg)
NM_000093.5(COL5A1):c.71T>A (p.Leu24Gln)
NM_000093.5(COL5A1):c.71_74delinsCCCC (p.Leu24_Leu25delinsProPro)
NM_000093.5(COL5A1):c.722G>A (p.Ser241Asn)
NM_000093.5(COL5A1):c.729C>G (p.Asp243Glu) rs1834700553
NM_000093.5(COL5A1):c.730T>C (p.Cys244Arg)
NM_000093.5(COL5A1):c.731G>C (p.Cys244Ser)
NM_000093.5(COL5A1):c.741A>G (p.Ala247=) rs1300981240
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.5(COL5A1):c.773A>G (p.Asn258Ser) rs1554787566
NM_000093.5(COL5A1):c.775C>G (p.Pro259Ala)
NM_000093.5(COL5A1):c.779A>T (p.Asp260Val)
NM_000093.5(COL5A1):c.77_85del (p.Leu26_Trp29delinsArg) rs1831316736
NM_000093.5(COL5A1):c.786+135A>G rs2132633168
NM_000093.5(COL5A1):c.787-14C>T rs765476815
NM_000093.5(COL5A1):c.787-9C>T rs751472921
NM_000093.5(COL5A1):c.7G>T (p.Val3Phe) rs1383699147
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.5(COL5A1):c.808G>A (p.Gly270Ser) rs1834748686
NM_000093.5(COL5A1):c.808G>T (p.Gly270Cys) rs1834748686
NM_000093.5(COL5A1):c.830A>G (p.Tyr277Cys)
NM_000093.5(COL5A1):c.838T>G (p.Tyr280Asp) rs1834749472
NM_000093.5(COL5A1):c.841G>A (p.Glu281Lys)
NM_000093.5(COL5A1):c.859G>A (p.Gly287Arg)
NM_000093.5(COL5A1):c.860G>A (p.Gly287Glu) rs1588477287
NM_000093.5(COL5A1):c.861G>T (p.Gly287=)
NM_000093.5(COL5A1):c.868C>G (p.Pro290Ala) rs754640324
NM_000093.5(COL5A1):c.868C>T (p.Pro290Ser) rs754640324
NM_000093.5(COL5A1):c.91C>A (p.Pro31Thr)
NM_000093.5(COL5A1):c.922G>A (p.Glu308Lys) rs770173348
NM_000093.5(COL5A1):c.924+8C>G rs2132635461
NM_000093.5(COL5A1):c.925-11T>G
NM_000093.5(COL5A1):c.92C>A (p.Pro31Gln) rs1410664123
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg) rs367726185
NM_000093.5(COL5A1):c.940C>G (p.Pro314Ala)
NM_000093.5(COL5A1):c.94C>T (p.Pro32Ser) rs886042620
NM_000093.5(COL5A1):c.959T>A (p.Met320Lys)
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
NM_000093.5(COL5A1):c.960G>A (p.Met320Ile)
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_000093.5(COL5A1):c.98C>T (p.Pro33Leu)
Single allele

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