ClinVar Miner

List of variants in gene COL4A1 studied for Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome; Brain small vessel disease 1 with or without ocular anomalies; Hemorrhage, intracerebral, susceptibility to; Retinal arterial tortuosity; Microangiopathy and leukoencephalopathy, pontine, autosomal dominant

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 286
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu) rs146950993 0.00076
NM_001845.6(COL4A1):c.957+7G>A rs58908343 0.00057
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.1084+19T>C rs542492789 0.00039
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_001845.6(COL4A1):c.387+14C>T rs190238481 0.00030
NM_001845.6(COL4A1):c.477A>T (p.Pro159=) rs141067230 0.00029
NM_001845.6(COL4A1):c.831A>G (p.Lys277=) rs140978802 0.00024
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302 0.00021
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420 0.00020
NM_001845.6(COL4A1):c.4250-12C>T rs202055679 0.00020
NM_001845.6(COL4A1):c.*137G>A rs886049956 0.00019
NM_001845.6(COL4A1):c.4756-22_4756-5dup rs778511113 0.00017
NM_001845.6(COL4A1):c.958-4del rs773018457 0.00017
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245 0.00016
NM_001845.6(COL4A1):c.4463-15T>C rs573385917 0.00016
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu) rs142177702 0.00014
NM_001845.6(COL4A1):c.4151-20T>C rs112561721 0.00014
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) rs140440365 0.00012
NM_001845.6(COL4A1):c.606C>T (p.Thr202=) rs754333091 0.00012
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=) rs202093478 0.00011
NM_001845.6(COL4A1):c.280-11C>T rs377299204 0.00009
NM_001845.6(COL4A1):c.3742+14dup rs761797795 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001845.6(COL4A1):c.4755+3A>G rs570472326 0.00009
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu) rs781249721 0.00008
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=) rs377765047 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg) rs144171664 0.00008
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_001845.6(COL4A1):c.4449T>C (p.His1483=) rs777962282 0.00007
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=) rs200290773 0.00007
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=) rs142883141 0.00006
NM_001845.6(COL4A1):c.324+20T>C rs764072918 0.00006
NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=) rs145903540 0.00006
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994 0.00006
NM_001845.6(COL4A1):c.2716+16A>G rs767749066 0.00005
NM_001845.6(COL4A1):c.1246C>G (p.Pro416Ala) rs773191976 0.00004
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser) rs779350720 0.00004
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=) rs188620231 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00004
NM_001845.6(COL4A1):c.858+4A>T rs916106593 0.00004
NM_001845.6(COL4A1):c.1613G>A (p.Arg538Gln) rs147361934 0.00003
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala) rs769408707 0.00003
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=) rs144401828 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=) rs540983592 0.00003
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00003
NM_001845.6(COL4A1):c.4929-9G>A rs756038842 0.00003
NM_001845.6(COL4A1):c.859-8_859del rs1360123079 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.1453C>G (p.Pro485Ala) rs747214508 0.00002
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552 0.00002
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=) rs576690537 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly) rs756221734 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.1990+4C>T rs771634502 0.00002
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=) rs755340790 0.00002
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870 0.00002
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu) rs775810147 0.00002
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=) rs779198670 0.00002
NM_001845.6(COL4A1):c.4839C>T (p.Phe1613=) rs987149771 0.00002
NM_001845.6(COL4A1):c.4929-10C>T rs369534245 0.00002
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met) rs779139113 0.00002
NM_001845.6(COL4A1):c.532C>T (p.Pro178Ser) rs777678272 0.00002
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1142C>T (p.Ala381Val) rs1200679947 0.00001
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=) rs1878700909 0.00001
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr) rs1878441079 0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe) rs755499333 0.00001
NM_001845.6(COL4A1):c.234+7A>G rs1339538900 0.00001
NM_001845.6(COL4A1):c.2458+2T>C rs1436175370 0.00001
NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu) rs763434858 0.00001
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) rs773443475 0.00001
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val) rs368902134 0.00001
NM_001845.6(COL4A1):c.2556C>T (p.Gly852=) rs1474061940 0.00001
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168 0.00001
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu) rs758076661 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln) rs755532903 0.00001
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser) rs780691085 0.00001
NM_001845.6(COL4A1):c.324+16G>A rs770236988 0.00001
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val) rs757670001 0.00001
NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=) rs182418518 0.00001
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His) rs146598127 0.00001
NM_001845.6(COL4A1):c.38C>T (p.Pro13Leu) rs1031870898 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001845.6(COL4A1):c.4249+9C>T rs186028417 0.00001
NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr) rs991189007 0.00001
NM_001845.6(COL4A1):c.4462+3A>G rs201116557 0.00001
NM_001845.6(COL4A1):c.4462+8G>A rs752734207 0.00001
NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=) rs773639086 0.00001
NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=) rs552846696 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His) rs756403856 0.00001
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) rs139917163 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001845.6(COL4A1):c.808-13T>G rs529629733 0.00001
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg) rs370338256 0.00001
NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)
NM_001845.6(COL4A1):c.1034A>T (p.Glu345Val)
NM_001845.6(COL4A1):c.104G>A (p.Gly35Asp)
NM_001845.6(COL4A1):c.1067G>C (p.Gly356Ala)
NM_001845.6(COL4A1):c.1084+20C>T rs756740376
NM_001845.6(COL4A1):c.1092A>T (p.Pro364=) rs141208458
NM_001845.6(COL4A1):c.1114C>T (p.Pro372Ser)
NM_001845.6(COL4A1):c.1261C>T (p.Pro421Ser)
NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) rs1461754052
NM_001845.6(COL4A1):c.145-3T>C
NM_001845.6(COL4A1):c.1451C>A (p.Pro484His)
NM_001845.6(COL4A1):c.1456G>A (p.Gly486Arg)
NM_001845.6(COL4A1):c.1466-1G>C
NM_001845.6(COL4A1):c.1484G>A (p.Gly495Glu)
NM_001845.6(COL4A1):c.1487C>G (p.Ala496Gly) rs1377162046
NM_001845.6(COL4A1):c.1504_1505dup (p.Leu502fs)
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.1717A>C (p.Lys573Gln) rs1006335866
NM_001845.6(COL4A1):c.1720G>C (p.Gly574Arg)
NM_001845.6(COL4A1):c.1728+3A>T
NM_001845.6(COL4A1):c.1730G>T (p.Gly577Val)
NM_001845.6(COL4A1):c.1740A>T (p.Gly580=)
NM_001845.6(COL4A1):c.1759C>G (p.Pro587Ala)
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.6(COL4A1):c.1790G>A (p.Arg597His) rs369724575
NM_001845.6(COL4A1):c.1823A>G (p.Tyr608Cys)
NM_001845.6(COL4A1):c.1890C>T (p.Gly630=)
NM_001845.6(COL4A1):c.1921A>C (p.Ile641Leu)
NM_001845.6(COL4A1):c.1938C>T (p.Gly646=)
NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)
NM_001845.6(COL4A1):c.1962G>C (p.Pro654=)
NM_001845.6(COL4A1):c.1965G>T (p.Gly655=)
NM_001845.6(COL4A1):c.1990+5G>A
NM_001845.6(COL4A1):c.1991-12T>G
NM_001845.6(COL4A1):c.1996C>T (p.Arg666Ter)
NM_001845.6(COL4A1):c.2028C>T (p.Gly676=)
NM_001845.6(COL4A1):c.2047G>A (p.Ala683Thr)
NM_001845.6(COL4A1):c.2100dup (p.Asp701Ter)
NM_001845.6(COL4A1):c.2111C>A (p.Pro704His)
NM_001845.6(COL4A1):c.2132G>C (p.Gly711Ala)
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2182C>T (p.Gln728Ter)
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg) rs1878139161
NM_001845.6(COL4A1):c.2204G>C (p.Gly735Ala)
NM_001845.6(COL4A1):c.2258C>A (p.Thr753Lys)
NM_001845.6(COL4A1):c.2269_2276del (p.Lys757fs)
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg) rs764059421
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2344+18A>G
NM_001845.6(COL4A1):c.234G>A (p.Lys78=) rs905794416
NM_001845.6(COL4A1):c.2404G>T (p.Gly802Cys)
NM_001845.6(COL4A1):c.2416G>A (p.Ala806Thr)
NM_001845.6(COL4A1):c.241A>G (p.Thr81Ala)
NM_001845.6(COL4A1):c.2438A>G (p.Gln813Arg)
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=) rs2139164290
NM_001845.6(COL4A1):c.2579C>T (p.Pro860Leu)
NM_001845.6(COL4A1):c.2593C>T (p.Gln865Ter)
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2602G>A (p.Ala868Thr)
NM_001845.6(COL4A1):c.2605C>A (p.Pro869Thr)
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.283C>A (p.Pro95Thr)
NM_001845.6(COL4A1):c.2884A>G (p.Ile962Val)
NM_001845.6(COL4A1):c.2968+6G>A
NM_001845.6(COL4A1):c.2987G>A (p.Gly996Asp)
NM_001845.6(COL4A1):c.3020C>T (p.Pro1007Leu)
NM_001845.6(COL4A1):c.3037G>A (p.Val1013Ile)
NM_001845.6(COL4A1):c.304C>G (p.Pro102Ala)
NM_001845.6(COL4A1):c.3054G>C (p.Leu1018Phe)
NM_001845.6(COL4A1):c.3059-12_3059-9del
NM_001845.6(COL4A1):c.3065C>T (p.Pro1022Leu)
NM_001845.6(COL4A1):c.3083C>T (p.Pro1028Leu)
NM_001845.6(COL4A1):c.3198+9C>A rs112120233
NM_001845.6(COL4A1):c.3215C>T (p.Ala1072Val)
NM_001845.6(COL4A1):c.3267C>G (p.Ile1089Met)
NM_001845.6(COL4A1):c.328A>G (p.Ile110Val)
NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=) rs752732736
NM_001845.6(COL4A1):c.3323C>T (p.Pro1108Leu)
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.3458C>T (p.Pro1153Leu)
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu) rs538816765
NM_001845.6(COL4A1):c.3572T>G (p.Val1191Gly)
NM_001845.6(COL4A1):c.3585A>T (p.Gly1195=)
NM_001845.6(COL4A1):c.3665G>A (p.Gly1222Glu)
NM_001845.6(COL4A1):c.3692C>T (p.Thr1231Met)
NM_001845.6(COL4A1):c.3719C>G (p.Pro1240Arg)
NM_001845.6(COL4A1):c.3719C>T (p.Pro1240Leu)
NM_001845.6(COL4A1):c.3771del (p.Leu1258fs)
NM_001845.6(COL4A1):c.3778G>A (p.Gly1260Arg)
NM_001845.6(COL4A1):c.3830C>T (p.Pro1277Leu)
NM_001845.6(COL4A1):c.3871A>G (p.Met1291Val)
NM_001845.6(COL4A1):c.3901A>G (p.Thr1301Ala)
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.3991C>T (p.Gln1331Ter)
NM_001845.6(COL4A1):c.4002_4005delinsCGGT (p.Gln1334His)
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
NM_001845.6(COL4A1):c.4049del (p.Gly1350fs)
NM_001845.6(COL4A1):c.4069G>T (p.Gly1357Trp)
NM_001845.6(COL4A1):c.4098_4104del (p.Pro1367fs)
NM_001845.6(COL4A1):c.4157C>G (p.Thr1386Arg)
NM_001845.6(COL4A1):c.4163T>A (p.Leu1388Ter)
NM_001845.6(COL4A1):c.4187G>A (p.Gly1396Asp)
NM_001845.6(COL4A1):c.41C>T (p.Ala14Val)
NM_001845.6(COL4A1):c.4209C>G (p.Ala1403=)
NM_001845.6(COL4A1):c.4234C>G (p.Pro1412Ala)
NM_001845.6(COL4A1):c.4249+9C>G
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.4286G>T (p.Gly1429Val)
NM_001845.6(COL4A1):c.4291C>T (p.Pro1431Ser)
NM_001845.6(COL4A1):c.4349G>A (p.Arg1450Lys)
NM_001845.6(COL4A1):c.4370A>C (p.Asp1457Ala)
NM_001845.6(COL4A1):c.4372C>T (p.Pro1458Ser)
NM_001845.6(COL4A1):c.4376A>T (p.Gln1459Leu)
NM_001845.6(COL4A1):c.4412A>C (p.Tyr1471Ser)
NM_001845.6(COL4A1):c.4426G>A (p.Val1476Met)
NM_001845.6(COL4A1):c.4481T>A (p.Leu1494Gln)
NM_001845.6(COL4A1):c.4495A>G (p.Thr1499Ala)
NM_001845.6(COL4A1):c.4498A>G (p.Met1500Val)
NM_001845.6(COL4A1):c.44C>T (p.Ala15Val)
NM_001845.6(COL4A1):c.4505T>C (p.Phe1502Ser)
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4555T>C (p.Tyr1519His)
NM_001845.6(COL4A1):c.4582CCCATG[3] (p.Met1531_Ser1532insProMet)
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.4640+10G>C
NM_001845.6(COL4A1):c.4648G>T (p.Val1550Leu)
NM_001845.6(COL4A1):c.468+5A>G
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
NM_001845.6(COL4A1):c.474T>G (p.Asp158Glu)
NM_001845.6(COL4A1):c.4756-20G>A
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=) rs1339688171
NM_001845.6(COL4A1):c.4832C>T (p.Ala1611Val)
NM_001845.6(COL4A1):c.4852G>A (p.Gly1618Ser)
NM_001845.6(COL4A1):c.4873T>G (p.Tyr1625Asp)
NM_001845.6(COL4A1):c.4886dup (p.Tyr1629Ter)
NM_001845.6(COL4A1):c.4900G>A (p.Ala1634Thr)
NM_001845.6(COL4A1):c.4960G>T (p.Glu1654Ter)
NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys) rs377350886
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del) rs1294802953
NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)
NM_001845.6(COL4A1):c.59A>G (p.Glu20Gly)
NM_001845.6(COL4A1):c.611C>T (p.Pro204Leu)
NM_001845.6(COL4A1):c.622C>G (p.Pro208Ala)
NM_001845.6(COL4A1):c.628C>T (p.Pro210Ser)
NM_001845.6(COL4A1):c.710G>T (p.Ser237Ile)
NM_001845.6(COL4A1):c.74C>G (p.Ala25Gly)
NM_001845.6(COL4A1):c.780G>A (p.Lys260=)
NM_001845.6(COL4A1):c.807+1G>A
NM_001845.6(COL4A1):c.811A>G (p.Met271Val)
NM_001845.6(COL4A1):c.84+13C>T
NM_001845.6(COL4A1):c.84G>A (p.Lys28=)
NM_001845.6(COL4A1):c.868G>T (p.Gly290Ter)
NM_001845.6(COL4A1):c.86G>C (p.Gly29Ala)
NM_001845.6(COL4A1):c.872A>G (p.Lys291Arg)
NM_001845.6(COL4A1):c.903+4_903+5insATTTTTTGTATTTTT
NM_001845.6(COL4A1):c.919C>T (p.Pro307Ser)
NM_001845.6(COL4A1):c.944G>A (p.Arg315His)
NM_001845.6(COL4A1):c.958-10T>C rs766495795
NM_001845.6(COL4A1):c.958-1G>C
NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)

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