ClinVar Miner

List of variants in gene COL5A2 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 638
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HGVS dbSNP gnomAD frequency
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val) rs141777954 0.00075
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_000393.5(COL5A2):c.2947C>T (p.Pro983Ser) rs141644853 0.00051
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030 0.00039
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046 0.00037
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_000393.5(COL5A2):c.98-13T>A rs376487446 0.00031
NM_000393.5(COL5A2):c.1923+8T>C rs191193125 0.00029
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000393.5(COL5A2):c.1433A>T (p.Glu478Val) rs559110283 0.00024
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00022
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000393.5(COL5A2):c.3885G>A (p.Thr1295=) rs375110673 0.00019
NM_000393.5(COL5A2):c.4362T>A (p.Asn1454Lys) rs372170366 0.00019
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_000393.5(COL5A2):c.2884C>A (p.Pro962Thr) rs754018138 0.00017
NM_000393.5(COL5A2):c.1633C>T (p.Arg545Trp) rs145258293 0.00016
NM_000393.5(COL5A2):c.2117C>T (p.Pro706Leu) rs146175905 0.00016
NM_000393.5(COL5A2):c.263C>A (p.Pro88His) rs149877855 0.00016
NM_000393.5(COL5A2):c.288T>C (p.Cys96=) rs577308799 0.00016
NM_000393.5(COL5A2):c.961-14T>C rs199880428 0.00016
NM_000393.5(COL5A2):c.3728G>A (p.Ser1243Asn) rs140851866 0.00015
NM_000393.5(COL5A2):c.3733C>T (p.Pro1245Ser) rs376971803 0.00014
NM_000393.5(COL5A2):c.2111T>C (p.Val704Ala) rs542643688 0.00013
NM_000393.5(COL5A2):c.228C>T (p.Cys76=) rs564136480 0.00013
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_000393.5(COL5A2):c.4358G>A (p.Arg1453Gln) rs149064715 0.00013
NM_000393.5(COL5A2):c.1292A>G (p.Lys431Arg) rs144602736 0.00011
NM_000393.5(COL5A2):c.2634A>G (p.Gln878=) rs370304175 0.00011
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858 0.00011
NM_000393.5(COL5A2):c.2855G>A (p.Arg952His) rs139264859 0.00011
NM_000393.5(COL5A2):c.3919C>G (p.Gln1307Glu) rs142814184 0.00011
NM_000393.5(COL5A2):c.906+9A>G rs761662868 0.00011
NM_000393.5(COL5A2):c.3039+7A>G rs369227715 0.00010
NM_000393.5(COL5A2):c.3178C>T (p.Arg1060Trp) rs374549843 0.00010
NM_000393.5(COL5A2):c.4470C>T (p.Gly1490=) rs142895373 0.00010
NM_000393.5(COL5A2):c.2715+11T>C rs371363636 0.00009
NM_000393.5(COL5A2):c.3017T>A (p.Met1006Lys) rs930378570 0.00009
NM_000393.5(COL5A2):c.570G>A (p.Pro190=) rs139666335 0.00009
NM_000393.5(COL5A2):c.2895A>G (p.Pro965=) rs760946138 0.00008
NM_000393.5(COL5A2):c.2770-6T>C rs770409954 0.00007
NM_000393.5(COL5A2):c.2931+18G>A rs369992922 0.00007
NM_000393.5(COL5A2):c.3385G>A (p.Asp1129Asn) rs199802059 0.00007
NM_000393.5(COL5A2):c.3488A>G (p.Gln1163Arg) rs758412337 0.00007
NM_000393.5(COL5A2):c.4354-20A>G rs568113641 0.00007
NM_000393.5(COL5A2):c.4383C>G (p.Val1461=) rs368234550 0.00007
NM_000393.5(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112 0.00007
NM_000393.5(COL5A2):c.1617+9G>T rs186490845 0.00006
NM_000393.5(COL5A2):c.1776G>A (p.Ala592=) rs773332771 0.00006
NM_000393.5(COL5A2):c.2408T>C (p.Leu803Ser) rs149737825 0.00006
NM_000393.5(COL5A2):c.2854C>T (p.Arg952Cys) rs199530997 0.00006
NM_000393.5(COL5A2):c.3658C>T (p.Pro1220Ser) rs770554435 0.00006
NM_000393.5(COL5A2):c.376G>A (p.Gly126Ser) rs779153546 0.00006
NM_000393.5(COL5A2):c.3794A>G (p.Asp1265Gly) rs200325397 0.00006
NM_000393.5(COL5A2):c.3969A>C (p.Ala1323=) rs1131429 0.00006
NM_000393.5(COL5A2):c.4332C>T (p.Ile1444=) rs138837670 0.00006
NM_000393.5(COL5A2):c.735T>G (p.Pro245=) rs148851552 0.00006
NM_000393.5(COL5A2):c.906+14A>G rs768645507 0.00006
NM_000393.5(COL5A2):c.985A>G (p.Met329Val) rs140785678 0.00006
NM_000393.5(COL5A2):c.1005+10C>T rs767297800 0.00005
NM_000393.5(COL5A2):c.2544C>T (p.Ala848=) rs370774253 0.00005
NM_000393.5(COL5A2):c.3201+14C>T rs368713290 0.00005
NM_000393.5(COL5A2):c.3208C>T (p.Arg1070Cys) rs754429372 0.00005
NM_000393.5(COL5A2):c.3309+16A>G rs369424272 0.00005
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00005
NM_000393.5(COL5A2):c.1005+11G>A rs371296580 0.00004
NM_000393.5(COL5A2):c.1105-18T>C rs930742709 0.00004
NM_000393.5(COL5A2):c.2292G>A (p.Pro764=) rs751503520 0.00004
NM_000393.5(COL5A2):c.3222G>A (p.Gly1074=) rs149574060 0.00004
NM_000393.5(COL5A2):c.3525+9del rs1279747855 0.00004
NM_000393.5(COL5A2):c.3567C>A (p.Asn1189Lys) rs745845130 0.00004
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=) rs201460445 0.00004
NM_000393.5(COL5A2):c.3613G>A (p.Val1205Ile) rs377660244 0.00004
NM_000393.5(COL5A2):c.3669G>A (p.Pro1223=) rs760353505 0.00004
NM_000393.5(COL5A2):c.3855C>T (p.Pro1285=) rs199904322 0.00004
NM_000393.5(COL5A2):c.3864G>A (p.Ser1288=) rs754605516 0.00004
NM_000393.5(COL5A2):c.398C>T (p.Pro133Leu) rs374225489 0.00004
NM_000393.5(COL5A2):c.4172G>A (p.Arg1391His) rs150931608 0.00004
NM_000393.5(COL5A2):c.4443T>C (p.Asp1481=) rs142857608 0.00004
NM_000393.5(COL5A2):c.4453A>C (p.Thr1485Pro) rs11553463 0.00004
NM_000393.5(COL5A2):c.4455A>G (p.Thr1485=) rs371225266 0.00004
NM_000393.5(COL5A2):c.567+7T>C rs755666206 0.00004
NM_000393.5(COL5A2):c.744+18A>G rs373820975 0.00004
NM_000393.5(COL5A2):c.851C>T (p.Pro284Leu) rs540573303 0.00004
NM_000393.5(COL5A2):c.907-5C>A rs756538217 0.00004
NM_000393.5(COL5A2):c.1006-8G>A rs200405052 0.00003
NM_000393.5(COL5A2):c.1059+8T>C rs200968159 0.00003
NM_000393.5(COL5A2):c.1159-7C>A rs377321742 0.00003
NM_000393.5(COL5A2):c.1814T>C (p.Ile605Thr) rs746339285 0.00003
NM_000393.5(COL5A2):c.1869+17A>G rs776780834 0.00003
NM_000393.5(COL5A2):c.1923+11A>G rs368776400 0.00003
NM_000393.5(COL5A2):c.2846C>G (p.Ser949Cys) rs201961021 0.00003
NM_000393.5(COL5A2):c.2881C>T (p.Pro961Ser) rs267599127 0.00003
NM_000393.5(COL5A2):c.3148-15C>T rs901541312 0.00003
NM_000393.5(COL5A2):c.3668C>T (p.Pro1223Leu) rs753383064 0.00003
NM_000393.5(COL5A2):c.3717C>T (p.His1239=) rs769790821 0.00003
NM_000393.5(COL5A2):c.3768G>A (p.Ala1256=) rs767144730 0.00003
NM_000393.5(COL5A2):c.3848G>A (p.Arg1283His) rs747653593 0.00003
NM_000393.5(COL5A2):c.399G>A (p.Pro133=) rs369867930 0.00003
NM_000393.5(COL5A2):c.4138C>T (p.Pro1380Ser) rs145755198 0.00003
NM_000393.5(COL5A2):c.4320A>T (p.Arg1440Ser) rs1436390158 0.00003
NM_000393.5(COL5A2):c.4333G>A (p.Val1445Ile) rs762653511 0.00003
NM_000393.5(COL5A2):c.4408G>A (p.Ala1470Thr) rs753194366 0.00003
NM_000393.5(COL5A2):c.463C>T (p.Arg155Cys) rs767252151 0.00003
NM_000393.5(COL5A2):c.537G>A (p.Pro179=) rs762891893 0.00003
NM_000393.5(COL5A2):c.602A>C (p.Lys201Thr) rs758156613 0.00003
NM_000393.5(COL5A2):c.691-4G>A rs767803370 0.00003
NM_000393.5(COL5A2):c.697G>A (p.Ala233Thr) rs148005959 0.00003
NM_000393.5(COL5A2):c.1261G>A (p.Ala421Thr) rs200839338 0.00002
NM_000393.5(COL5A2):c.1564-8A>T rs776187028 0.00002
NM_000393.5(COL5A2):c.1570C>T (p.Pro524Ser) rs200205564 0.00002
NM_000393.5(COL5A2):c.1621G>T (p.Ala541Ser) rs768348357 0.00002
NM_000393.5(COL5A2):c.1716+13C>G rs779517028 0.00002
NM_000393.5(COL5A2):c.1833C>T (p.Pro611=) rs765364009 0.00002
NM_000393.5(COL5A2):c.2446-17T>G rs774566945 0.00002
NM_000393.5(COL5A2):c.2550C>A (p.Pro850=) rs375877757 0.00002
NM_000393.5(COL5A2):c.2662-13T>G rs764874823 0.00002
NM_000393.5(COL5A2):c.2882C>T (p.Pro961Leu) rs778835151 0.00002
NM_000393.5(COL5A2):c.2964G>A (p.Thr988=) rs1060504380 0.00002
NM_000393.5(COL5A2):c.3022G>A (p.Gly1008Ser) rs909634945 0.00002
NM_000393.5(COL5A2):c.3040-8T>C rs886055355 0.00002
NM_000393.5(COL5A2):c.3119A>G (p.Asn1040Ser) rs773168254 0.00002
NM_000393.5(COL5A2):c.3325A>G (p.Ile1109Val) rs766499543 0.00002
NM_000393.5(COL5A2):c.3341G>A (p.Arg1114Gln) rs377049803 0.00002
NM_000393.5(COL5A2):c.3343G>C (p.Ala1115Pro) rs748601646 0.00002
NM_000393.5(COL5A2):c.3363+18G>T rs1465568437 0.00002
NM_000393.5(COL5A2):c.3422A>C (p.Gln1141Pro) rs144890303 0.00002
NM_000393.5(COL5A2):c.3637C>T (p.Pro1213Ser) rs780899667 0.00002
NM_000393.5(COL5A2):c.3646G>A (p.Glu1216Lys) rs755429175 0.00002
NM_000393.5(COL5A2):c.3792G>A (p.Thr1264=) rs773058827 0.00002
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly) rs555111281 0.00002
NM_000393.5(COL5A2):c.382C>T (p.Arg128Cys) rs1247714244 0.00002
NM_000393.5(COL5A2):c.4114-14C>G rs777751790 0.00002
NM_000393.5(COL5A2):c.4251G>A (p.Lys1417=) rs965891508 0.00002
NM_000393.5(COL5A2):c.4346C>A (p.Thr1449Asn) rs550723518 0.00002
NM_000393.5(COL5A2):c.44T>C (p.Ile15Thr) rs369394572 0.00002
NM_000393.5(COL5A2):c.568-11C>T rs375129913 0.00002
NM_000393.5(COL5A2):c.799-6A>G rs111586240 0.00002
NM_000393.5(COL5A2):c.1059+13G>C rs1559093269 0.00001
NM_000393.5(COL5A2):c.1059+15T>C rs772728428 0.00001
NM_000393.5(COL5A2):c.1059+9A>G rs776100559 0.00001
NM_000393.5(COL5A2):c.1067G>A (p.Arg356Gln) rs761072017 0.00001
NM_000393.5(COL5A2):c.1076A>G (p.His359Arg) rs760117362 0.00001
NM_000393.5(COL5A2):c.1158+14G>A rs1057523022 0.00001
NM_000393.5(COL5A2):c.1159-10A>G rs767892138 0.00001
NM_000393.5(COL5A2):c.1159-13T>C rs756321922 0.00001
NM_000393.5(COL5A2):c.1188C>T (p.Gly396=) rs863223485 0.00001
NM_000393.5(COL5A2):c.1302+9T>C rs1199559237 0.00001
NM_000393.5(COL5A2):c.1365G>A (p.Gln455=) rs1200615943 0.00001
NM_000393.5(COL5A2):c.142T>C (p.Tyr48His) rs750126490 0.00001
NM_000393.5(COL5A2):c.1456-10T>C rs918840882 0.00001
NM_000393.5(COL5A2):c.1527A>C (p.Pro509=) rs202234821 0.00001
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592 0.00001
NM_000393.5(COL5A2):c.1611G>A (p.Gly537=) rs1686117535 0.00001
NM_000393.5(COL5A2):c.1618-17G>A rs1272843185 0.00001
NM_000393.5(COL5A2):c.1618-8C>T rs746841809 0.00001
NM_000393.5(COL5A2):c.1693G>A (p.Glu565Lys) rs730880066 0.00001
NM_000393.5(COL5A2):c.1698T>G (p.Pro566=) rs1483483512 0.00001
NM_000393.5(COL5A2):c.1704T>C (p.Leu568=) rs776228988 0.00001
NM_000393.5(COL5A2):c.1716+12G>A rs745767713 0.00001
NM_000393.5(COL5A2):c.1765C>T (p.Pro589Ser) rs544303636 0.00001
NM_000393.5(COL5A2):c.1973C>T (p.Pro658Leu) rs746458284 0.00001
NM_000393.5(COL5A2):c.1995A>G (p.Arg665=) rs140541824 0.00001
NM_000393.5(COL5A2):c.2008C>A (p.Pro670Thr) rs904166744 0.00001
NM_000393.5(COL5A2):c.2031+14C>T rs749030256 0.00001
NM_000393.5(COL5A2):c.2121A>G (p.Leu707=) rs1247190308 0.00001
NM_000393.5(COL5A2):c.2131-16C>T rs1187598016 0.00001
NM_000393.5(COL5A2):c.2131-5G>T rs1219841781 0.00001
NM_000393.5(COL5A2):c.2138G>A (p.Arg713Gln) rs776302656 0.00001
NM_000393.5(COL5A2):c.2229+10A>G rs1269243284 0.00001
NM_000393.5(COL5A2):c.2322C>A (p.Gly774=) rs549187703 0.00001
NM_000393.5(COL5A2):c.2334C>T (p.Asp778=) rs138457003 0.00001
NM_000393.5(COL5A2):c.2392-4A>G rs758314268 0.00001
NM_000393.5(COL5A2):c.2400A>G (p.Pro800=) rs1335810893 0.00001
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379 0.00001
NM_000393.5(COL5A2):c.2424G>A (p.Pro808=) rs200019093 0.00001
NM_000393.5(COL5A2):c.2488C>T (p.Arg830Trp) rs778544623 0.00001
NM_000393.5(COL5A2):c.2499+18G>T rs1275018864 0.00001
NM_000393.5(COL5A2):c.2500-12G>T rs749087232 0.00001
NM_000393.5(COL5A2):c.250G>A (p.Asp84Asn) rs745528957 0.00001
NM_000393.5(COL5A2):c.2511T>C (p.Gly837=) rs1192759045 0.00001
NM_000393.5(COL5A2):c.2554-5T>C rs373495598 0.00001
NM_000393.5(COL5A2):c.260C>T (p.Thr87Met) rs778591411 0.00001
NM_000393.5(COL5A2):c.2623C>T (p.Pro875Ser) rs754389345 0.00001
NM_000393.5(COL5A2):c.2641G>A (p.Ala881Thr) rs760858324 0.00001
NM_000393.5(COL5A2):c.2648C>A (p.Ser883Tyr) rs773515722 0.00001
NM_000393.5(COL5A2):c.2715+12T>G rs369677461 0.00001
NM_000393.5(COL5A2):c.2715+16G>A rs774654781 0.00001
NM_000393.5(COL5A2):c.2715+18T>G rs781686307 0.00001
NM_000393.5(COL5A2):c.2742G>A (p.Ala914=) rs773825862 0.00001
NM_000393.5(COL5A2):c.2745C>A (p.Gly915=) rs778360315 0.00001
NM_000393.5(COL5A2):c.2782C>T (p.Pro928Ser) rs1189019903 0.00001
NM_000393.5(COL5A2):c.2808G>T (p.Gly936=) rs141089340 0.00001
NM_000393.5(COL5A2):c.2831G>A (p.Arg944His) rs761988412 0.00001
NM_000393.5(COL5A2):c.2841T>A (p.Pro947=) rs372780282 0.00001
NM_000393.5(COL5A2):c.2940T>C (p.Asp980=) rs1685766903 0.00001
NM_000393.5(COL5A2):c.2943C>T (p.Gly981=) rs771950850 0.00001
NM_000393.5(COL5A2):c.2967C>T (p.Thr989=) rs757271535 0.00001
NM_000393.5(COL5A2):c.2981T>C (p.Ile994Thr) rs1354785209 0.00001
NM_000393.5(COL5A2):c.2997G>A (p.Gly999=) rs777896102 0.00001
NM_000393.5(COL5A2):c.3006A>T (p.Gly1002=) rs756259584 0.00001
NM_000393.5(COL5A2):c.3071C>T (p.Ala1024Val) rs763462242 0.00001
NM_000393.5(COL5A2):c.3091C>T (p.Pro1031Ser) rs187336363 0.00001
NM_000393.5(COL5A2):c.3162T>C (p.Asn1054=) rs769755441 0.00001
NM_000393.5(COL5A2):c.3195A>G (p.Gly1065=) rs746246121 0.00001
NM_000393.5(COL5A2):c.3196G>A (p.Glu1066Lys) rs779213867 0.00001
NM_000393.5(COL5A2):c.3201+8C>A rs751150447 0.00001
NM_000393.5(COL5A2):c.324T>C (p.Gly108=) rs201881801 0.00001
NM_000393.5(COL5A2):c.3252C>T (p.Ala1084=) rs1576490715 0.00001
NM_000393.5(COL5A2):c.3317G>A (p.Arg1106Gln) rs369725456 0.00001
NM_000393.5(COL5A2):c.3330A>G (p.Gly1110=) rs928228342 0.00001
NM_000393.5(COL5A2):c.3336T>A (p.Pro1112=) rs773532298 0.00001
NM_000393.5(COL5A2):c.3379C>T (p.Arg1127Cys) rs886055354 0.00001
NM_000393.5(COL5A2):c.3406C>A (p.Arg1136=) rs754843093 0.00001
NM_000393.5(COL5A2):c.3513A>G (p.Pro1171=) rs754108091 0.00001
NM_000393.5(COL5A2):c.3582G>A (p.Gly1194=) rs140022057 0.00001
NM_000393.5(COL5A2):c.3583C>G (p.Pro1195Ala) rs863223496 0.00001
NM_000393.5(COL5A2):c.3633+12A>G rs886055353 0.00001
NM_000393.5(COL5A2):c.3633+14G>T rs776087725 0.00001
NM_000393.5(COL5A2):c.3638C>T (p.Pro1213Leu) rs1056466895 0.00001
NM_000393.5(COL5A2):c.3676C>T (p.Pro1226Ser) rs199621926 0.00001
NM_000393.5(COL5A2):c.3791C>T (p.Thr1264Met) rs762902468 0.00001
NM_000393.5(COL5A2):c.3836T>C (p.Ile1279Thr) rs752658223 0.00001
NM_000393.5(COL5A2):c.3877G>T (p.Ala1293Ser) rs766162092 0.00001
NM_000393.5(COL5A2):c.3881G>A (p.Arg1294His) rs150063612 0.00001
NM_000393.5(COL5A2):c.388C>T (p.Arg130Cys) rs754170105 0.00001
NM_000393.5(COL5A2):c.3913G>A (p.Ala1305Thr) rs372897632 0.00001
NM_000393.5(COL5A2):c.3925+17C>T rs1685506449 0.00001
NM_000393.5(COL5A2):c.4085A>G (p.Tyr1362Cys) rs141206016 0.00001
NM_000393.5(COL5A2):c.4089T>G (p.Gly1363=) rs753760854 0.00001
NM_000393.5(COL5A2):c.4116C>T (p.Phe1372=) rs755092575 0.00001
NM_000393.5(COL5A2):c.4144A>G (p.Thr1382Ala) rs370026245 0.00001
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg) rs754932150 0.00001
NM_000393.5(COL5A2):c.4324C>T (p.Arg1442Trp) rs146982082 0.00001
NM_000393.5(COL5A2):c.4353+9T>C rs776352996 0.00001
NM_000393.5(COL5A2):c.4369G>A (p.Val1457Met) rs745935107 0.00001
NM_000393.5(COL5A2):c.4411C>T (p.Arg1471Cys) rs1430667498 0.00001
NM_000393.5(COL5A2):c.4412G>A (p.Arg1471His) rs781760462 0.00001
NM_000393.5(COL5A2):c.4416G>A (p.Leu1472=) rs1193385199 0.00001
NM_000393.5(COL5A2):c.464G>A (p.Arg155His) rs754702218 0.00001
NM_000393.5(COL5A2):c.528T>A (p.Pro176=) rs751404827 0.00001
NM_000393.5(COL5A2):c.536C>T (p.Pro179Leu) rs766179958 0.00001
NM_000393.5(COL5A2):c.5T>C (p.Met2Thr) rs762874073 0.00001
NM_000393.5(COL5A2):c.615G>A (p.Gly205=) rs757199738 0.00001
NM_000393.5(COL5A2):c.687G>A (p.Gln229=) rs1010903537 0.00001
NM_000393.5(COL5A2):c.690+17T>C rs1171215082 0.00001
NM_000393.5(COL5A2):c.690+9C>G rs745863682 0.00001
NM_000393.5(COL5A2):c.691-15T>G rs756189756 0.00001
NM_000393.5(COL5A2):c.712C>T (p.Pro238Ser) rs763287143 0.00001
NM_000393.5(COL5A2):c.798+15C>T rs1476791697 0.00001
NM_000393.5(COL5A2):c.878C>T (p.Pro293Leu) rs754230712 0.00001
NM_000393.5(COL5A2):c.961-10T>G rs770126461 0.00001
NM_000393.5(COL5A2):c.969T>C (p.Ala323=) rs781515066 0.00001
NM_000393.5(COL5A2):c.1005+7G>A rs1402008959
NM_000393.5(COL5A2):c.1006-11A>G
NM_000393.5(COL5A2):c.1006-19del
NM_000393.5(COL5A2):c.1006-20T>C
NM_000393.5(COL5A2):c.1035G>A (p.Gly345=)
NM_000393.5(COL5A2):c.1059+11_1059+12del
NM_000393.5(COL5A2):c.1059+8T>G
NM_000393.5(COL5A2):c.1060-7T>C rs754055737
NM_000393.5(COL5A2):c.1074A>C (p.Ala358=)
NM_000393.5(COL5A2):c.10A>G (p.Asn4Asp)
NM_000393.5(COL5A2):c.1105-11T>G rs1057523251
NM_000393.5(COL5A2):c.1105-13T>A
NM_000393.5(COL5A2):c.1119A>G (p.Ile373Met)
NM_000393.5(COL5A2):c.1122A>G (p.Pro374=)
NM_000393.5(COL5A2):c.1158+20A>G
NM_000393.5(COL5A2):c.1159-11C>T
NM_000393.5(COL5A2):c.1159-12G>C
NM_000393.5(COL5A2):c.1159-16C>T
NM_000393.5(COL5A2):c.1159-18C>T
NM_000393.5(COL5A2):c.1159-8C>T rs1273116792
NM_000393.5(COL5A2):c.1165G>T (p.Ala389Ser)
NM_000393.5(COL5A2):c.1179G>A (p.Gly393=) rs1553515878
NM_000393.5(COL5A2):c.117A>T (p.Ile39=) rs1060504379
NM_000393.5(COL5A2):c.1190C>T (p.Pro397Leu) rs1189039397
NM_000393.5(COL5A2):c.1203G>A (p.Gln401=)
NM_000393.5(COL5A2):c.1228C>T (p.Pro410Ser) rs1042644306
NM_000393.5(COL5A2):c.1244C>G (p.Ser415Cys)
NM_000393.5(COL5A2):c.1257+11A>G
NM_000393.5(COL5A2):c.1257+12G>A rs759316090
NM_000393.5(COL5A2):c.1257+13C>A
NM_000393.5(COL5A2):c.1302+17T>C
NM_000393.5(COL5A2):c.1302+20C>T
NM_000393.5(COL5A2):c.1303-8T>C
NM_000393.5(COL5A2):c.1308T>C (p.Ser436=)
NM_000393.5(COL5A2):c.1350A>T (p.Gly450=)
NM_000393.5(COL5A2):c.1351T>C (p.Ser451Pro) rs548441536
NM_000393.5(COL5A2):c.1402-10T>A
NM_000393.5(COL5A2):c.1402-13A>G
NM_000393.5(COL5A2):c.1402-17C>T
NM_000393.5(COL5A2):c.1402-5T>C
NM_000393.5(COL5A2):c.1443A>C (p.Pro481=) rs1686160458
NM_000393.5(COL5A2):c.1455+20A>T rs2105600190
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.1456-11G>A
NM_000393.5(COL5A2):c.1456-16C>T
NM_000393.5(COL5A2):c.1456-17C>A
NM_000393.5(COL5A2):c.1458G>T (p.Gly486=)
NM_000393.5(COL5A2):c.1459C>T (p.Pro487Ser)
NM_000393.5(COL5A2):c.1464T>C (p.His488=)
NM_000393.5(COL5A2):c.1479G>A (p.Pro493=)
NM_000393.5(COL5A2):c.1491C>T (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1494T>C (p.Gly498=)
NM_000393.5(COL5A2):c.1514C>T (p.Pro505Leu) rs1234716349
NM_000393.5(COL5A2):c.1532C>G (p.Thr511Arg)
NM_000393.5(COL5A2):c.1563+11A>G
NM_000393.5(COL5A2):c.1575C>T (p.Gly525=)
NM_000393.5(COL5A2):c.1596T>G (p.Ser532=)
NM_000393.5(COL5A2):c.1617+12del
NM_000393.5(COL5A2):c.1617+17A>G
NM_000393.5(COL5A2):c.1617+8T>G
NM_000393.5(COL5A2):c.1617+9G>A
NM_000393.5(COL5A2):c.1625A>T (p.Gln542Leu)
NM_000393.5(COL5A2):c.1626A>G (p.Gln542=) rs745880832
NM_000393.5(COL5A2):c.1653A>G (p.Ser551=)
NM_000393.5(COL5A2):c.1658C>G (p.Pro553Arg) rs149203102
NM_000393.5(COL5A2):c.1674G>T (p.Gly558=)
NM_000393.5(COL5A2):c.1680A>C (p.Pro560=)
NM_000393.5(COL5A2):c.16G>T (p.Ala6Ser) rs372910621
NM_000393.5(COL5A2):c.1701G>A (p.Gly567=) rs1576503230
NM_000393.5(COL5A2):c.1717-10T>G
NM_000393.5(COL5A2):c.1717-15G>T
NM_000393.5(COL5A2):c.1770+12A>T rs915090349
NM_000393.5(COL5A2):c.1770+14A>G
NM_000393.5(COL5A2):c.1771-7T>A
NM_000393.5(COL5A2):c.1771-7_1771-6insTA rs777484785
NM_000393.5(COL5A2):c.1773T>A (p.Gly591=) rs2105591117
NM_000393.5(COL5A2):c.1775C>G (p.Ala592Gly)
NM_000393.5(COL5A2):c.1775C>T (p.Ala592Val) rs145169816
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
NM_000393.5(COL5A2):c.1809C>A (p.Gly603=)
NM_000393.5(COL5A2):c.180G>A (p.Gln60=) rs759303686
NM_000393.5(COL5A2):c.1812C>T (p.Ser604=) rs1576502365
NM_000393.5(COL5A2):c.1830G>A (p.Gln610=)
NM_000393.5(COL5A2):c.1832C>T (p.Pro611Leu)
NM_000393.5(COL5A2):c.1833C>G (p.Pro611=)
NM_000393.5(COL5A2):c.1854C>A (p.Gly618=)
NM_000393.5(COL5A2):c.1869+14A>G
NM_000393.5(COL5A2):c.1869+16A>G
NM_000393.5(COL5A2):c.1913C>T (p.Pro638Leu)
NM_000393.5(COL5A2):c.1954C>A (p.Pro652Thr)
NM_000393.5(COL5A2):c.1955C>T (p.Pro652Leu) rs766743234
NM_000393.5(COL5A2):c.1959T>C (p.Ser653=)
NM_000393.5(COL5A2):c.1971C>T (p.Gly657=) rs1686065633
NM_000393.5(COL5A2):c.1974G>A (p.Pro658=)
NM_000393.5(COL5A2):c.1977+10T>C
NM_000393.5(COL5A2):c.1977+13dup
NM_000393.5(COL5A2):c.1977+8A>G
NM_000393.5(COL5A2):c.1977+9T>C
NM_000393.5(COL5A2):c.1989T>C (p.Gly663=)
NM_000393.5(COL5A2):c.2013A>G (p.Pro671=) rs2105586702
NM_000393.5(COL5A2):c.2019C>T (p.Pro673=) rs2105586689
NM_000393.5(COL5A2):c.2032-13A>T
NM_000393.5(COL5A2):c.2043T>C (p.Gly681=) rs1553515128
NM_000393.5(COL5A2):c.2061A>C (p.Gly687=) rs2105584664
NM_000393.5(COL5A2):c.2085+10T>C
NM_000393.5(COL5A2):c.2085+19A>G rs2105584543
NM_000393.5(COL5A2):c.2118G>A (p.Pro706=)
NM_000393.5(COL5A2):c.2130+13A>G
NM_000393.5(COL5A2):c.2130+16T>G
NM_000393.5(COL5A2):c.2131-15C>A
NM_000393.5(COL5A2):c.2151G>A (p.Gly717=)
NM_000393.5(COL5A2):c.2169G>A (p.Gly723=) rs1272808206
NM_000393.5(COL5A2):c.2178A>T (p.Gly726=) rs1307423893
NM_000393.5(COL5A2):c.2193G>A (p.Lys731=)
NM_000393.5(COL5A2):c.2229+14T>G
NM_000393.5(COL5A2):c.2229+15G>A
NM_000393.5(COL5A2):c.2229+8T>C
NM_000393.5(COL5A2):c.2253C>G (p.Thr751=) rs928855762
NM_000393.5(COL5A2):c.2283A>G (p.Gln761=)
NM_000393.5(COL5A2):c.2298A>G (p.Glu766=) rs369130743
NM_000393.5(COL5A2):c.2310A>G (p.Ala770=)
NM_000393.5(COL5A2):c.2322C>T (p.Gly774=)
NM_000393.5(COL5A2):c.2329G>T (p.Gly777Cys)
NM_000393.5(COL5A2):c.2337+11T>C
NM_000393.5(COL5A2):c.2337+18_2337+29del
NM_000393.5(COL5A2):c.2337+8C>T rs999144463
NM_000393.5(COL5A2):c.2337+8_2337+10del
NM_000393.5(COL5A2):c.2337+8_2337+11del rs2105574989
NM_000393.5(COL5A2):c.2338-12G>T
NM_000393.5(COL5A2):c.2338-15T>G
NM_000393.5(COL5A2):c.2340T>A (p.Gly780=)
NM_000393.5(COL5A2):c.2392-15_2392-14insTGTTG
NM_000393.5(COL5A2):c.2394T>C (p.Gly798=)
NM_000393.5(COL5A2):c.2445+15G>A rs767821578
NM_000393.5(COL5A2):c.2445+19A>C
NM_000393.5(COL5A2):c.2445+8A>G
NM_000393.5(COL5A2):c.2446-11C>T
NM_000393.5(COL5A2):c.2446-5T>C rs1685846142
NM_000393.5(COL5A2):c.2446-7T>C rs1685846268
NM_000393.5(COL5A2):c.2481T>C (p.Pro827=) rs749675749
NM_000393.5(COL5A2):c.2493C>G (p.Gly831=)
NM_000393.5(COL5A2):c.2499+10A>G rs886055356
NM_000393.5(COL5A2):c.2499+16_2499+17dup
NM_000393.5(COL5A2):c.2499+19G>C
NM_000393.5(COL5A2):c.2499+8A>G
NM_000393.5(COL5A2):c.2499+9C>G
NM_000393.5(COL5A2):c.2500-14_2500-13del rs2105565157
NM_000393.5(COL5A2):c.2500-16C>G
NM_000393.5(COL5A2):c.2500-5C>T rs1306555149
NM_000393.5(COL5A2):c.2506C>G (p.Arg836Gly) rs367718811
NM_000393.5(COL5A2):c.250G>C (p.Asp84His) rs745528957
NM_000393.5(COL5A2):c.2538T>A (p.Gly846=)
NM_000393.5(COL5A2):c.2553+11C>T
NM_000393.5(COL5A2):c.2553+20C>T
NM_000393.5(COL5A2):c.2554-10T>A
NM_000393.5(COL5A2):c.2571T>C (p.Pro857=)
NM_000393.5(COL5A2):c.2598A>G (p.Pro866=) rs757721541
NM_000393.5(COL5A2):c.2614G>T (p.Ala872Ser)
NM_000393.5(COL5A2):c.2633A>G (p.Gln878Arg)
NM_000393.5(COL5A2):c.2661+10C>A
NM_000393.5(COL5A2):c.2661+10C>T
NM_000393.5(COL5A2):c.2661+11A>G
NM_000393.5(COL5A2):c.2661+16_2661+17insCTTGAGTC
NM_000393.5(COL5A2):c.2661+20G>T rs79623676
NM_000393.5(COL5A2):c.2662-16G>C
NM_000393.5(COL5A2):c.2662-6A>G
NM_000393.5(COL5A2):c.2703C>A (p.Thr901=)
NM_000393.5(COL5A2):c.2715+14A>G
NM_000393.5(COL5A2):c.2715+15T>C
NM_000393.5(COL5A2):c.2716-20A>G
NM_000393.5(COL5A2):c.273A>G (p.Glu91=)
NM_000393.5(COL5A2):c.2769+13A>C
NM_000393.5(COL5A2):c.2769+14G>C
NM_000393.5(COL5A2):c.2769+20C>T
NM_000393.5(COL5A2):c.2770-14_2770-11del
NM_000393.5(COL5A2):c.2770-14del
NM_000393.5(COL5A2):c.2770-18C>T
NM_000393.5(COL5A2):c.2770-4C>T rs1576494559
NM_000393.5(COL5A2):c.27A>G (p.Arg9=)
NM_000393.5(COL5A2):c.2829T>C (p.Leu943=) rs1576494477
NM_000393.5(COL5A2):c.2830C>T (p.Arg944Cys)
NM_000393.5(COL5A2):c.2835G>A (p.Gly945=)
NM_000393.5(COL5A2):c.2859G>A (p.Val953=) rs1685784025
NM_000393.5(COL5A2):c.2880C>T (p.Gly960=)
NM_000393.5(COL5A2):c.2892C>A (p.Gly964=)
NM_000393.5(COL5A2):c.2892C>T (p.Gly964=) rs2105558761
NM_000393.5(COL5A2):c.2901C>T (p.Asp967=) rs2105558694
NM_000393.5(COL5A2):c.2907G>C (p.Gly969=) rs2105558672
NM_000393.5(COL5A2):c.291A>G (p.Ser97=)
NM_000393.5(COL5A2):c.2922T>C (p.Asp974=)
NM_000393.5(COL5A2):c.2931+10G>A
NM_000393.5(COL5A2):c.2931+12G>A
NM_000393.5(COL5A2):c.2931+17C>T
NM_000393.5(COL5A2):c.2932-11C>T rs1158417509
NM_000393.5(COL5A2):c.296C>T (p.Thr99Ile)
NM_000393.5(COL5A2):c.3002G>A (p.Arg1001His)
NM_000393.5(COL5A2):c.3003T>A (p.Arg1001=)
NM_000393.5(COL5A2):c.3015C>T (p.Gly1005=)
NM_000393.5(COL5A2):c.3039+13A>G
NM_000393.5(COL5A2):c.3039+16G>A
NM_000393.5(COL5A2):c.3039+8G>A
NM_000393.5(COL5A2):c.303A>G (p.Gly101=)
NM_000393.5(COL5A2):c.3040-19A>G
NM_000393.5(COL5A2):c.3040-7A>G rs1236877990
NM_000393.5(COL5A2):c.3044C>A (p.Thr1015Lys)
NM_000393.5(COL5A2):c.3064A>C (p.Thr1022Pro)
NM_000393.5(COL5A2):c.306T>C (p.Gly102=)
NM_000393.5(COL5A2):c.3070G>A (p.Ala1024Thr)
NM_000393.5(COL5A2):c.3084A>G (p.Lys1028=) rs774936724
NM_000393.5(COL5A2):c.3108C>A (p.Pro1036=) rs2153507896
NM_000393.5(COL5A2):c.3114C>T (p.Gly1038=)
NM_000393.5(COL5A2):c.3147+12A>G
NM_000393.5(COL5A2):c.3148-6T>G
NM_000393.5(COL5A2):c.3148-9T>A
NM_000393.5(COL5A2):c.3159C>A (p.Gly1053=)
NM_000393.5(COL5A2):c.3171C>G (p.Thr1057=)
NM_000393.5(COL5A2):c.3178C>A (p.Arg1060=) rs374549843
NM_000393.5(COL5A2):c.3201+15A>C
NM_000393.5(COL5A2):c.3201+17T>A
NM_000393.5(COL5A2):c.3202-17A>G
NM_000393.5(COL5A2):c.3207T>C (p.Asp1069=)
NM_000393.5(COL5A2):c.322+10T>A rs2105711790
NM_000393.5(COL5A2):c.322+7A>G
NM_000393.5(COL5A2):c.3249T>G (p.Gly1083=)
NM_000393.5(COL5A2):c.326G>A (p.Arg109Lys)
NM_000393.5(COL5A2):c.3296A>G (p.Gln1099Arg)
NM_000393.5(COL5A2):c.3309+20C>T rs2153507358
NM_000393.5(COL5A2):c.3309+9G>A
NM_000393.5(COL5A2):c.3310-4T>G rs2153507285
NM_000393.5(COL5A2):c.3348G>A (p.Gly1116=) rs1553513577
NM_000393.5(COL5A2):c.3351A>G (p.Lys1117=)
NM_000393.5(COL5A2):c.3363+18_3363+21del
NM_000393.5(COL5A2):c.3364-10C>G
NM_000393.5(COL5A2):c.3364-18C>T
NM_000393.5(COL5A2):c.3364-5T>A
NM_000393.5(COL5A2):c.337-15T>C
NM_000393.5(COL5A2):c.337-17T>C
NM_000393.5(COL5A2):c.3407G>A (p.Arg1136Gln) rs562950263
NM_000393.5(COL5A2):c.3432C>T (p.His1144=) rs1685594948
NM_000393.5(COL5A2):c.3438C>G (p.Gly1146=)
NM_000393.5(COL5A2):c.3444T>G (p.Thr1148=) rs2153507006
NM_000393.5(COL5A2):c.3447T>C (p.Gly1149=) rs1576488965
NM_000393.5(COL5A2):c.3471+11C>T
NM_000393.5(COL5A2):c.3471+17_3471+20del
NM_000393.5(COL5A2):c.34C>T (p.Leu12Phe) rs768807471
NM_000393.5(COL5A2):c.3525+15G>A
NM_000393.5(COL5A2):c.3525+15G>T rs2153506949
NM_000393.5(COL5A2):c.3525+20A>C
NM_000393.5(COL5A2):c.3526-17G>C
NM_000393.5(COL5A2):c.3526-5T>G
NM_000393.5(COL5A2):c.3573G>T (p.Gly1191=) rs2153506821
NM_000393.5(COL5A2):c.3576A>G (p.Pro1192=)
NM_000393.5(COL5A2):c.3633+14G>A
NM_000393.5(COL5A2):c.3633+17T>C
NM_000393.5(COL5A2):c.3633+9A>T
NM_000393.5(COL5A2):c.3634-4T>C
NM_000393.5(COL5A2):c.3642T>A (p.Pro1214=)
NM_000393.5(COL5A2):c.3690A>T (p.Thr1230=)
NM_000393.5(COL5A2):c.370-9A>T rs2105686943
NM_000393.5(COL5A2):c.3732G>A (p.Met1244Ile) rs780628821
NM_000393.5(COL5A2):c.3751T>C (p.Phe1251Leu)
NM_000393.5(COL5A2):c.3756T>C (p.Thr1252=) rs1576486483
NM_000393.5(COL5A2):c.3798A>G (p.Pro1266=)
NM_000393.5(COL5A2):c.3834G>A (p.Gln1278=) rs2153506504
NM_000393.5(COL5A2):c.3835A>G (p.Ile1279Val) rs772344964
NM_000393.5(COL5A2):c.3879C>T (p.Ala1293=) rs1685508284
NM_000393.5(COL5A2):c.3895C>T (p.Leu1299=)
NM_000393.5(COL5A2):c.3903T>C (p.Leu1301=)
NM_000393.5(COL5A2):c.3906C>T (p.Cys1302=) rs532409377
NM_000393.5(COL5A2):c.3912C>T (p.Ser1304=)
NM_000393.5(COL5A2):c.3918G>A (p.Lys1306=)
NM_000393.5(COL5A2):c.3925+17C>G rs1685506449
NM_000393.5(COL5A2):c.3926-14A>G rs1377852358
NM_000393.5(COL5A2):c.3969A>G (p.Ala1323=) rs1131429
NM_000393.5(COL5A2):c.3975A>G (p.Lys1325=) rs775697182
NM_000393.5(COL5A2):c.402+15C>T
NM_000393.5(COL5A2):c.402+17A>G
NM_000393.5(COL5A2):c.403-15C>G
NM_000393.5(COL5A2):c.4035A>T (p.Pro1345=) rs2153506152
NM_000393.5(COL5A2):c.4044C>A (p.Thr1348=) rs1430568106
NM_000393.5(COL5A2):c.4076C>A (p.Pro1359His) rs745580343
NM_000393.5(COL5A2):c.4107G>A (p.Gly1369=)
NM_000393.5(COL5A2):c.4113+16del rs779762130
NM_000393.5(COL5A2):c.4113+17A>C
NM_000393.5(COL5A2):c.4113+18C>G
NM_000393.5(COL5A2):c.4114-18_4114-17del rs1440458273
NM_000393.5(COL5A2):c.4114-20_4114-19del
NM_000393.5(COL5A2):c.4137A>G (p.Ser1379=) rs2153505989
NM_000393.5(COL5A2):c.4140T>A (p.Pro1380=)
NM_000393.5(COL5A2):c.4152T>C (p.Ile1384=) rs1685417610
NM_000393.5(COL5A2):c.4164T>A (p.Thr1388=)
NM_000393.5(COL5A2):c.4179A>G (p.Leu1393=) rs200888890
NM_000393.5(COL5A2):c.4194C>G (p.Ser1398=)
NM_000393.5(COL5A2):c.4200C>T (p.Asn1400=) rs979486002
NM_000393.5(COL5A2):c.4257C>G (p.Leu1419=)
NM_000393.5(COL5A2):c.426A>G (p.Pro142=)
NM_000393.5(COL5A2):c.4284A>C (p.Ala1428=)
NM_000393.5(COL5A2):c.4299C>A (p.Ile1433=)
NM_000393.5(COL5A2):c.429A>G (p.Arg143=) rs1488001302
NM_000393.5(COL5A2):c.4314T>C (p.Asn1438=)
NM_000393.5(COL5A2):c.4326G>A (p.Arg1442=)
NM_000393.5(COL5A2):c.4326G>T (p.Arg1442=) rs1685413573
NM_000393.5(COL5A2):c.4353+13T>A
NM_000393.5(COL5A2):c.4353+14G>C
NM_000393.5(COL5A2):c.4353+15A>T rs375110145
NM_000393.5(COL5A2):c.4353+16T>C
NM_000393.5(COL5A2):c.4353+20C>T
NM_000393.5(COL5A2):c.4353+8C>G rs1057523735
NM_000393.5(COL5A2):c.4354-6T>A rs1576482939
NM_000393.5(COL5A2):c.4395A>G (p.Arg1465=)
NM_000393.5(COL5A2):c.441G>A (p.Gly147=)
NM_000393.5(COL5A2):c.4424T>C (p.Ile1475Thr)
NM_000393.5(COL5A2):c.4437T>C (p.Pro1479=)
NM_000393.5(COL5A2):c.4449C>A (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.4497G>A (p.Val1499=) rs1249280287
NM_000393.5(COL5A2):c.450A>C (p.Gly150=)
NM_000393.5(COL5A2):c.456+10C>T
NM_000393.5(COL5A2):c.456+18C>T rs887004952
NM_000393.5(COL5A2):c.457-18A>G
NM_000393.5(COL5A2):c.457-6T>A rs756707881
NM_000393.5(COL5A2):c.459C>T (p.Gly153=) rs2105668392
NM_000393.5(COL5A2):c.507A>G (p.Gln169=)
NM_000393.5(COL5A2):c.519A>C (p.Pro173=) rs1553517803
NM_000393.5(COL5A2):c.534T>C (p.His178=)
NM_000393.5(COL5A2):c.537G>C (p.Pro179=)
NM_000393.5(COL5A2):c.537G>T (p.Pro179=)
NM_000393.5(COL5A2):c.54A>G (p.Leu18=) rs2105831569
NM_000393.5(COL5A2):c.552C>G (p.Pro184=)
NM_000393.5(COL5A2):c.553G>A (p.Asp185Asn) rs775933907
NM_000393.5(COL5A2):c.559T>C (p.Leu187=)
NM_000393.5(COL5A2):c.567+15T>C
NM_000393.5(COL5A2):c.567+16T>G
NM_000393.5(COL5A2):c.609A>G (p.Gly203=)
NM_000393.5(COL5A2):c.615G>C (p.Gly205=) rs757199738
NM_000393.5(COL5A2):c.645+12T>G rs2105658220
NM_000393.5(COL5A2):c.690+12T>G
NM_000393.5(COL5A2):c.690+13A>G
NM_000393.5(COL5A2):c.690+14T>C
NM_000393.5(COL5A2):c.691-18C>A rs1440268271
NM_000393.5(COL5A2):c.691-20T>C
NM_000393.5(COL5A2):c.693T>A (p.Gly231=)
NM_000393.5(COL5A2):c.744+13_744+16del
NM_000393.5(COL5A2):c.744+17C>G
NM_000393.5(COL5A2):c.744+7G>A rs774993105
NM_000393.5(COL5A2):c.744+8T>A rs2105650306
NM_000393.5(COL5A2):c.744+9C>T rs1576516888
NM_000393.5(COL5A2):c.745-19T>C
NM_000393.5(COL5A2):c.745-4T>C rs781426004
NM_000393.5(COL5A2):c.749C>T (p.Pro250Leu) rs556805686
NM_000393.5(COL5A2):c.761G>A (p.Arg254His)
NM_000393.5(COL5A2):c.798+10C>A
NM_000393.5(COL5A2):c.798+10del
NM_000393.5(COL5A2):c.799-13T>A rs2105645853
NM_000393.5(COL5A2):c.799-18A>G
NM_000393.5(COL5A2):c.799-7C>T rs879227018
NM_000393.5(COL5A2):c.799-8C>T
NM_000393.5(COL5A2):c.852+13T>G rs2105645578
NM_000393.5(COL5A2):c.852+8T>C rs2105645627
NM_000393.5(COL5A2):c.853-13G>A rs1553516867
NM_000393.5(COL5A2):c.853-17_853-14del
NM_000393.5(COL5A2):c.853-8C>T
NM_000393.5(COL5A2):c.897G>A (p.Lys299=)
NM_000393.5(COL5A2):c.902A>G (p.His301Arg)
NM_000393.5(COL5A2):c.906+12C>G rs1057521955
NM_000393.5(COL5A2):c.906+20A>G
NM_000393.5(COL5A2):c.907-12T>G
NM_000393.5(COL5A2):c.907-18T>C
NM_000393.5(COL5A2):c.907-19T>C
NM_000393.5(COL5A2):c.90C>T (p.Asp30=)
NM_000393.5(COL5A2):c.939A>G (p.Glu313=)
NM_000393.5(COL5A2):c.946G>A (p.Ala316Thr)
NM_000393.5(COL5A2):c.960+11A>G
NM_000393.5(COL5A2):c.961-15C>T
NM_000393.5(COL5A2):c.961-18A>G
NM_000393.5(COL5A2):c.97+10C>T
NM_000393.5(COL5A2):c.97+15T>C
NM_000393.5(COL5A2):c.978T>C (p.Thr326=) rs1053327487
NM_000393.5(COL5A2):c.98-10C>T rs2105712624
NM_000393.5(COL5A2):c.994A>T (p.Met332Leu)

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