ClinVar Miner

List of variants in gene COL5A1 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 351
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HGVS dbSNP gnomAD frequency
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264 0.00061
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.367C>G (p.Gln123Glu) rs142114921 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
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.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.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.2677G>A (p.Ala893Thr) rs146195310 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
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.292G>A (p.Glu98Lys) rs369126350 0.00009
NM_000093.5(COL5A1):c.3023C>T (p.Thr1008Met) rs199735010 0.00009
NM_000093.5(COL5A1):c.3491C>T (p.Pro1164Leu) rs368305377 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.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.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser) rs372499629 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.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.3258G>A (p.Ala1086=) rs372844807 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 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.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.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.2285C>T (p.Pro762Leu) rs138259992 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 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.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) rs762624092 0.00004
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.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.2542C>T (p.Arg848Cys) rs762336160 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.3770G>A (p.Arg1257Gln) rs141768094 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.4111C>G (p.Pro1371Ala) rs749162303 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 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.1574G>A (p.Arg525Gln) rs375762619 0.00002
NM_000093.5(COL5A1):c.170A>G (p.Lys57Arg) rs1131691360 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.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.3856G>A (p.Glu1286Lys) rs149717587 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.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.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr) rs768269251 0.00001
NM_000093.5(COL5A1):c.1210T>C (p.Phe404Leu) rs1052185173 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 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.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.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.1805C>T (p.Pro602Leu) rs749007253 0.00001
NM_000093.5(COL5A1):c.1840A>C (p.Ser614Arg) rs863223477 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.2066C>T (p.Pro689Leu) rs1389473144 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.2382C>T (p.Val794=) rs758190171 0.00001
NM_000093.5(COL5A1):c.2390C>T (p.Ala797Val) rs745370910 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.2593-3C>T rs199895142 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.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.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.3235C>T (p.Pro1079Ser) rs763310793 0.00001
NM_000093.5(COL5A1):c.3326C>A (p.Pro1109His) rs1482501113 0.00001
NM_000093.5(COL5A1):c.3344C>T (p.Pro1115Leu) rs139039658 0.00001
NM_000093.5(COL5A1):c.3361G>C (p.Ala1121Pro) rs863223449 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.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.4198C>T (p.Pro1400Ser) rs765217611 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.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.4370C>T (p.Pro1457Leu) rs201875250 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.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys) rs765170704 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
GRCh37/hg19 9q34.3(chr9:137434514-137638766)x3
NM_000093.5(COL5A1):c.1021G>T (p.Val341Leu)
NM_000093.5(COL5A1):c.1048T>C (p.Ser350Pro) rs1588479393
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1070A>T (p.Tyr357Phe)
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.1222A>G (p.Thr408Ala) rs1588480833
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
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.12T>G (p.His4Gln) rs368818087
NM_000093.5(COL5A1):c.1333-3C>G rs1238061655
NM_000093.5(COL5A1):c.1361A>G (p.Gln454Arg)
NM_000093.5(COL5A1):c.1370A>G (p.Glu457Gly) rs2132643376
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.1429G>A (p.Ala477Thr) rs774936702
NM_000093.5(COL5A1):c.1431+6T>G rs2132655326
NM_000093.5(COL5A1):c.1445C>T (p.Pro482Leu) rs565329216
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.5(COL5A1):c.1535T>C (p.Leu512Pro) rs863223442
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
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.1671G>A (p.Leu557=)
NM_000093.5(COL5A1):c.1687C>G (p.Pro563Ala)
NM_000093.5(COL5A1):c.1688C>T (p.Pro563Leu) rs753260027
NM_000093.5(COL5A1):c.1724C>A (p.Pro575His)
NM_000093.5(COL5A1):c.1726C>A (p.Pro576Thr)
NM_000093.5(COL5A1):c.1787T>C (p.Val596Ala) rs754773665
NM_000093.5(COL5A1):c.1850C>A (p.Ala617Asp)
NM_000093.5(COL5A1):c.1920C>T (p.Gly640=) rs781663334
NM_000093.5(COL5A1):c.1937G>A (p.Gly646Asp)
NM_000093.5(COL5A1):c.1949C>G (p.Pro650Arg) rs150890005
NM_000093.5(COL5A1):c.2044G>A (p.Gly682Ser) rs1588524307
NM_000093.5(COL5A1):c.2089-62C>T
NM_000093.5(COL5A1):c.212C>G (p.Pro71Arg)
NM_000093.5(COL5A1):c.2149C>T (p.Pro717Ser)
NM_000093.5(COL5A1):c.2182G>C (p.Ala728Pro)
NM_000093.5(COL5A1):c.2191C>G (p.Leu731Val)
NM_000093.5(COL5A1):c.2237C>G (p.Pro746Arg) rs1588527590
NM_000093.5(COL5A1):c.2331+3G>A
NM_000093.5(COL5A1):c.2385G>A (p.Lys795=) rs1554797638
NM_000093.5(COL5A1):c.2392G>A (p.Asp798Asn) rs979271877
NM_000093.5(COL5A1):c.2401C>T (p.Arg801Cys)
NM_000093.5(COL5A1):c.242C>T (p.Ala81Val)
NM_000093.5(COL5A1):c.2434G>A (p.Glu812Lys) rs1554798924
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.2524C>A (p.Pro842Thr) rs1588545921
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.2578C>T (p.Pro860Ser)
NM_000093.5(COL5A1):c.2676C>A (p.Gly892=) rs143161140
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2740C>T (p.Pro914Ser) rs2132802525
NM_000093.5(COL5A1):c.2741C>T (p.Pro914Leu)
NM_000093.5(COL5A1):c.2771G>C (p.Arg924Pro) rs768711320
NM_000093.5(COL5A1):c.2807C>G (p.Ser936Cys)
NM_000093.5(COL5A1):c.2809G>A (p.Gly937Arg) rs1330022009
NM_000093.5(COL5A1):c.2844G>A (p.Arg948=) rs1421835224
NM_000093.5(COL5A1):c.2866C>A (p.Pro956Thr) rs2132807920
NM_000093.5(COL5A1):c.2882G>A (p.Gly961Glu) rs2132807966
NM_000093.5(COL5A1):c.2894C>T (p.Pro965Leu) rs376435205
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.2983C>G (p.Pro995Ala) rs187022757
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.2986C>G (p.Pro996Ala) rs774351619
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.5(COL5A1):c.3013A>G (p.Thr1005Ala) rs863223446
NM_000093.5(COL5A1):c.3037G>A (p.Glu1013Lys) rs1060502249
NM_000093.5(COL5A1):c.305T>C (p.Ile102Thr) rs1554781477
NM_000093.5(COL5A1):c.309AAC[1] (p.Thr105del) rs863223476
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) rs751792216
NM_000093.5(COL5A1):c.3167G>T (p.Arg1056Leu)
NM_000093.5(COL5A1):c.3197G>C (p.Gly1066Ala) rs2132827340
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.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3311C>G (p.Pro1104Arg) rs1377049332
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.3415C>T (p.Pro1139Ser) rs1838418529
NM_000093.5(COL5A1):c.3452C>G (p.Pro1151Arg)
NM_000093.5(COL5A1):c.3476G>A (p.Gly1159Glu) rs1838466921
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3562A>G (p.Ile1188Val) rs1588577285
NM_000093.5(COL5A1):c.3575G>A (p.Gly1192Asp) rs2132844472
NM_000093.5(COL5A1):c.3582+4A>C rs1064796967
NM_000093.5(COL5A1):c.3595G>C (p.Glu1199Gln) rs867211079
NM_000093.5(COL5A1):c.3627C>A (p.Phe1209Leu) rs748000980
NM_000093.5(COL5A1):c.3698C>T (p.Pro1233Leu) rs886039091
NM_000093.5(COL5A1):c.3720T>C (p.Gly1240=) rs1554805072
NM_000093.5(COL5A1):c.3741G>T (p.Gln1247His)
NM_000093.5(COL5A1):c.3746G>C (p.Gly1249Ala) rs533597740
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.380A>G (p.Gln127Arg)
NM_000093.5(COL5A1):c.3815C>T (p.Pro1272Leu) rs369684394
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.3865G>A (p.Glu1289Lys)
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.3938A>G (p.Glu1313Gly) rs2132853684
NM_000093.5(COL5A1):c.3952G>A (p.Gly1318Ser) rs1838678972
NM_000093.5(COL5A1):c.3968C>T (p.Pro1323Leu) rs2132853817
NM_000093.5(COL5A1):c.4000C>A (p.Pro1334Thr)
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.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.5(COL5A1):c.4050C>A (p.Pro1350=) rs773853291
NM_000093.5(COL5A1):c.4068G>A (p.Ala1356=) rs863223452
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.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.4235A>T (p.Glu1412Val) rs1838863376
NM_000093.5(COL5A1):c.4288G>A (p.Ala1430Thr) rs863223455
NM_000093.5(COL5A1):c.431_432delinsAT (p.Thr144Asn) rs864622040
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.4374C>A (p.Asp1458Glu) rs201335857
NM_000093.5(COL5A1):c.4392+4A>C rs863223456
NM_000093.5(COL5A1):c.4392+5G>A rs886043312
NM_000093.5(COL5A1):c.458C>T (p.Pro153Leu) rs771925785
NM_000093.5(COL5A1):c.487_488delinsTT (p.Gly163Phe) rs2132570241
NM_000093.5(COL5A1):c.491+5G>C rs2132570262
NM_000093.5(COL5A1):c.497A>G (p.His166Arg) rs1057524357
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.523A>C (p.Lys175Gln)
NM_000093.5(COL5A1):c.550A>G (p.Lys184Glu) rs2132572947
NM_000093.5(COL5A1):c.580A>G (p.Ser194Gly) rs2132573049
NM_000093.5(COL5A1):c.592A>G (p.Met198Val) rs1833664488
NM_000093.5(COL5A1):c.594G>A (p.Met198Ile)
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.62C>T (p.Pro21Leu) rs2132454969
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.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.709T>C (p.Cys237Arg) rs2132632719
NM_000093.5(COL5A1):c.71_74delinsCCCC (p.Leu24_Leu25delinsProPro)
NM_000093.5(COL5A1):c.766G>A (p.Asp256Asn) rs886038237
NM_000093.5(COL5A1):c.779A>T (p.Asp260Val)
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.859G>A (p.Gly287Arg)
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg) rs367726185
NM_000093.5(COL5A1):c.94C>T (p.Pro32Ser) rs886042620
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
Single allele

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