List of variants studied for primary membranoproliferative glomerulonephritis by Fulgent Genetics, Fulgent Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 313

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000186.4(CFH):c.2808G>T (p.Glu936Asp)	rs1065489	0.14779
NM_000186.4(CFH):c.2236+8T>A	rs7537967	0.01429
NM_000186.4(CFH):c.1159+19T>G	rs35695425	0.00756
NM_003647.3(DGKE):c.1440T>C (p.Val480=)	rs2230873	0.00354
NM_003647.3(DGKE):c.798T>A (p.Leu266=)	rs61751970	0.00312
NM_000186.4(CFH):c.428-14T>C	rs184188486	0.00271
NM_000186.4(CFH):c.3150T>C (p.Asn1050=)	rs113347629	0.00269
NM_000186.4(CFH):c.3207T>C (p.Ser1069=)	rs62641697	0.00219
NM_003647.3(DGKE):c.129G>A (p.Gln43=)	rs139071284	0.00202
NM_000186.4(CFH):c.1935G>T (p.Thr645=)	rs56035657	0.00105
NM_000186.4(CFH):c.2509G>A (p.Val837Ile)	rs55807605	0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=)	rs55752475	0.00050
NM_000186.4(CFH):c.172T>G (p.Ser58Ala)	rs141336681	0.00047
NM_000186.4(CFH):c.1825G>A (p.Val609Ile)	rs148165372	0.00042
NM_000186.4(CFH):c.2821G>T (p.Val941Phe)	rs529491401	0.00039
NM_000186.4(CFH):c.245-8C>T	rs537160602	0.00038
NM_003647.3(DGKE):c.744+17A>T	rs375002513	0.00037
NM_000186.4(CFH):c.3133+8G>T	rs142718541	0.00036
NM_000186.4(CFH):c.2171C>A (p.Thr724Lys)	rs142902005	0.00032
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His)	rs55679475	0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu)	rs55771831	0.00029
NM_000186.4(CFH):c.3079G>C (p.Ala1027Pro)	rs373385518	0.00026
NM_000186.4(CFH):c.3133+4C>G	rs374729595	0.00025
NM_000186.4(CFH):c.3226C>G (p.Gln1076Glu)	rs62625015	0.00025
NM_003647.3(DGKE):c.625-13C>A	rs189280031	0.00024
NM_000186.4(CFH):c.1949G>T (p.Gly650Val)	rs143237092	0.00021
NM_000186.4(CFH):c.1198C>A (p.Gln400Lys)	rs201671665	0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)	rs121913059	0.00019
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys)	rs201084185	0.00019
NM_000186.4(CFH):c.2675C>T (p.Ala892Val)	rs151068461	0.00017
NM_003647.3(DGKE):c.966G>A (p.Trp322Ter)	rs138924661	0.00016
NM_000186.4(CFH):c.472G>A (p.Val158Ile)	rs141852866	0.00014
NM_000186.4(CFH):c.3607C>T (p.Arg1203Trp)	rs145347741	0.00013
NM_000186.4(CFH):c.388G>A (p.Asp130Asn)	rs147002633	0.00013
NM_000186.4(CFH):c.2488C>T (p.Arg830Trp)	rs62641696	0.00011
NM_000186.4(CFH):c.476G>A (p.Ser159Asn)	rs370640334	0.00011
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys)	rs147403664	0.00010
NM_000186.4(CFH):c.2461C>T (p.His821Tyr)	rs367687415	0.00010
NM_000186.4(CFH):c.332T>A (p.Val111Glu)	rs576819823	0.00010
NM_000186.4(CFH):c.3045T>C (p.Thr1015=)	rs147864267	0.00009
NM_000186.4(CFH):c.3318A>G (p.Thr1106=)	rs1137971	0.00009
NM_003647.3(DGKE):c.888+12T>C	rs557770879	0.00009
NM_000186.4(CFH):c.350+9T>C	rs201686629	0.00007
NM_000186.4(CFH):c.1922T>C (p.Val641Ala)	rs371768180	0.00006
NM_000186.4(CFH):c.2056+16T>C	rs777352172	0.00006
NM_000186.4(CFH):c.2195C>T (p.Thr732Met)	rs201360629	0.00006
NM_000186.4(CFH):c.245-17T>A	rs775088366	0.00006
NM_000186.4(CFH):c.2767C>T (p.Pro923Ser)	rs368846503	0.00006
NM_030787.4(CFHR5):c.1331-2A>G	rs148301128	0.00006
NM_000186.4(CFH):c.3160G>A (p.Val1054Ile)	rs757426928	0.00005
NM_000186.4(CFH):c.59-16T>C	rs201067374	0.00005
NM_030787.4(CFHR5):c.1304G>A (p.Arg435Gln)	rs776538115	0.00005
NM_000186.4(CFH):c.1736T>C (p.Val579Ala)	rs201411537	0.00004
NM_000186.4(CFH):c.1998G>T (p.Lys666Asn)	rs752859825	0.00004
NM_000186.4(CFH):c.2236+18A>G	rs749643506	0.00004
NM_000186.4(CFH):c.2957-15T>C	rs756514818	0.00004
NM_000186.4(CFH):c.3028G>A (p.Ala1010Thr)	rs11539862	0.00004
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser)	rs121913062	0.00004
NM_000186.4(CFH):c.481G>T (p.Ala161Ser)	rs777300338	0.00004
NM_000186.4(CFH):c.565G>A (p.Glu189Lys)	rs121913054	0.00004
NM_000186.4(CFH):c.769C>T (p.Arg257Cys)	rs776887716	0.00004
NM_000186.4(CFH):c.807T>C (p.Asn269=)	rs757654697	0.00004
NM_000186.4(CFH):c.964+18C>A	rs1258420173	0.00004
NM_030787.4(CFHR5):c.1369A>G (p.Asn457Asp)	rs371283133	0.00004
NM_030787.4(CFHR5):c.665T>C (p.Ile222Thr)	rs780116839	0.00004
NM_000186.4(CFH):c.2868G>A (p.Thr956=)	rs533238588	0.00003
NM_000186.4(CFH):c.526T>C (p.Phe176Leu)	rs762132970	0.00003
NM_000186.4(CFH):c.647T>C (p.Ile216Thr)	rs183474263	0.00003
NM_003647.3(DGKE):c.1688T>C (p.Ile563Thr)	rs767939518	0.00003
NM_000186.4(CFH):c.122C>T (p.Thr41Ile)	rs1192717326	0.00002
NM_000186.4(CFH):c.1654G>C (p.Val552Leu)	rs372365885	0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter)	rs150694809	0.00002
NM_000186.4(CFH):c.1913A>G (p.Asn638Ser)	rs755928805	0.00002
NM_000186.4(CFH):c.2424A>G (p.Ile808Met)	rs752302466	0.00002
NM_000186.4(CFH):c.2456A>G (p.Asn819Ser)	rs781393769	0.00002
NM_000186.4(CFH):c.906C>G (p.Thr302=)	rs148552495	0.00002
NM_030787.4(CFHR5):c.1289T>C (p.Val430Ala)	rs781262039	0.00002
NM_000186.4(CFH):c.100A>T (p.Thr34Ser)	rs1389897706	0.00001
NM_000186.4(CFH):c.1357A>T (p.Ile453Leu)	rs1450633243	0.00001
NM_000186.4(CFH):c.1474A>G (p.Ile492Val)	rs892717090	0.00001
NM_000186.4(CFH):c.1532T>G (p.Ile511Ser)	rs1420895923	0.00001
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)	rs757785149	0.00001
NM_000186.4(CFH):c.1612G>C (p.Asp538His)	rs778051521	0.00001
NM_000186.4(CFH):c.1697-3A>C	rs778174105	0.00001
NM_000186.4(CFH):c.1744C>T (p.Arg582Cys)	rs144696019	0.00001
NM_000186.4(CFH):c.2047G>A (p.Val683Met)	rs573295841	0.00001
NM_000186.4(CFH):c.2151C>A (p.Phe717Leu)	rs763441589	0.00001
NM_000186.4(CFH):c.2236+10C>G	rs755790229	0.00001
NM_000186.4(CFH):c.2416G>T (p.Ala806Ser)	rs753331225	0.00001
NM_000186.4(CFH):c.2944C>T (p.Pro982Ser)	rs149938052	0.00001
NM_000186.4(CFH):c.2946A>G (p.Pro982=)	rs553471643	0.00001
NM_000186.4(CFH):c.3130A>G (p.Arg1044Gly)	rs1366929531	0.00001
NM_000186.4(CFH):c.3134-7T>C	rs779166622	0.00001
NM_000186.4(CFH):c.3358A>T (p.Ile1120Phe)	rs771435716	0.00001
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)	rs460184	0.00001
NM_000186.4(CFH):c.65A>G (p.Asn22Ser)	rs767494411	0.00001
NM_000186.4(CFH):c.849A>G (p.Lys283=)	rs771886590	0.00001
NM_000186.4(CFH):c.889G>A (p.Gly297Ser)	rs764573258	0.00001
NM_030787.4(CFHR5):c.253A>G (p.Arg85Gly)	rs372885376	0.00001
NM_000186.4(CFH):c.104G>A (p.Gly35Asp)
NM_000186.4(CFH):c.11T>C (p.Leu4Pro)
NM_000186.4(CFH):c.1337-2A>G
NM_000186.4(CFH):c.139del (p.Gln47fs)
NM_000186.4(CFH):c.1444G>A (p.Val482Ile)
NM_000186.4(CFH):c.1464A>G (p.Thr488=)
NM_000186.4(CFH):c.1486A>C (p.Lys496Gln)
NM_000186.4(CFH):c.1511C>G (p.Thr504Arg)
NM_000186.4(CFH):c.1511C>T (p.Thr504Met)	rs377008918
NM_000186.4(CFH):c.158G>T (p.Arg53Leu)
NM_000186.4(CFH):c.1615G>A (p.Gly539Ser)
NM_000186.4(CFH):c.1666A>C (p.Asn556His)	rs2149103764
NM_000186.4(CFH):c.1670G>A (p.Gly557Asp)
NM_000186.4(CFH):c.1673G>A (p.Trp558Ter)
NM_000186.4(CFH):c.1699A>G (p.Arg567Gly)	rs757756991
NM_000186.4(CFH):c.1735G>A (p.Val579Ile)
NM_000186.4(CFH):c.1795C>A (p.Pro599Thr)
NM_000186.4(CFH):c.1905A>T (p.Glu635Asp)
NM_000186.4(CFH):c.1916G>T (p.Gly639Val)
NM_000186.4(CFH):c.1935G>A (p.Thr645=)	rs56035657
NM_000186.4(CFH):c.1986A>G (p.Arg662=)
NM_000186.4(CFH):c.2009A>C (p.Lys670Thr)
NM_000186.4(CFH):c.2027G>A (p.Gly676Glu)	rs1558178947
NM_000186.4(CFH):c.2054T>C (p.Ile685Thr)	rs1431491220
NM_000186.4(CFH):c.2072G>C (p.Cys691Ser)	rs2149108610
NM_000186.4(CFH):c.2089C>T (p.Leu697Phe)
NM_000186.4(CFH):c.2114C>T (p.Ser705Phe)
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)	rs1210674261
NM_000186.4(CFH):c.2149T>G (p.Phe717Val)
NM_000186.4(CFH):c.2167_2178del (p.Phe723_Ile726del)
NM_000186.4(CFH):c.218C>T (p.Ala73Val)
NM_000186.4(CFH):c.2200A>T (p.Ile734Phe)
NM_000186.4(CFH):c.2204A>G (p.His735Arg)
NM_000186.4(CFH):c.2236+1G>C
NM_000186.4(CFH):c.2237-3T>C
NM_000186.4(CFH):c.223A>C (p.Asn75His)
NM_000186.4(CFH):c.2247_2252del (p.Leu750_Lys751del)
NM_000186.4(CFH):c.2260A>G (p.Lys754Glu)
NM_000186.4(CFH):c.2261A>G (p.Lys754Arg)
NM_000186.4(CFH):c.2295A>T (p.Leu765Phe)
NM_000186.4(CFH):c.232A>G (p.Arg78Gly)
NM_000186.4(CFH):c.2402T>G (p.Val801Gly)
NM_000186.4(CFH):c.2405A>G (p.Asn802Ser)
NM_000186.4(CFH):c.245-10_245-9dup	rs35507625
NM_000186.4(CFH):c.245-9del	rs35507625
NM_000186.4(CFH):c.245-9dup	rs35507625
NM_000186.4(CFH):c.245A>G (p.Lys82Arg)
NM_000186.4(CFH):c.2477C>A (p.Thr826Lys)
NM_000186.4(CFH):c.2519A>G (p.Gln840Arg)
NM_000186.4(CFH):c.2563G>A (p.Asp855Asn)
NM_000186.4(CFH):c.2565T>A (p.Asp855Glu)
NM_000186.4(CFH):c.2575C>T (p.Gln859Ter)
NM_000186.4(CFH):c.25T>G (p.Cys9Gly)
NM_000186.4(CFH):c.2602dup (p.Ile868fs)	rs2149113459
NM_000186.4(CFH):c.2620C>T (p.Pro874Ser)
NM_000186.4(CFH):c.271A>G (p.Thr91Ala)
NM_000186.4(CFH):c.272C>G (p.Thr91Ser)
NM_000186.4(CFH):c.2851T>C (p.Tyr951His)
NM_000186.4(CFH):c.2905G>T (p.Ala969Ser)
NM_000186.4(CFH):c.2912C>T (p.Ala971Val)
NM_000186.4(CFH):c.3022T>C (p.Tyr1008His)
NM_000186.4(CFH):c.3029C>T (p.Ala1010Val)
NM_000186.4(CFH):c.3079G>A (p.Ala1027Thr)
NM_000186.4(CFH):c.3105C>A (p.Ser1035Arg)
NM_000186.4(CFH):c.3119G>A (p.Arg1040Lys)
NM_000186.4(CFH):c.3137CCT[1] (p.Ser1047del)
NM_000186.4(CFH):c.3149A>T (p.Asn1050Ile)
NM_000186.4(CFH):c.3152C>T (p.Pro1051Leu)
NM_000186.4(CFH):c.3168T>G (p.Asn1056Lys)
NM_000186.4(CFH):c.3181T>C (p.Ser1061Pro)
NM_000186.4(CFH):c.318T>C (p.Tyr106=)	rs1448752091
NM_000186.4(CFH):c.319G>A (p.Gly107Ser)
NM_000186.4(CFH):c.3209G>C (p.Gly1070Ala)
NM_000186.4(CFH):c.3215G>C (p.Arg1072Thr)
NM_000186.4(CFH):c.3220C>T (p.Arg1074Cys)
NM_000186.4(CFH):c.3238C>G (p.Pro1080Ala)
NM_000186.4(CFH):c.3271T>C (p.Cys1091Arg)
NM_000186.4(CFH):c.3285C>A (p.Asn1095Lys)
NM_000186.4(CFH):c.3290C>T (p.Thr1097Met)
NM_000186.4(CFH):c.3341C>T (p.Pro1114Leu)
NM_000186.4(CFH):c.3358A>G (p.Ile1120Val)
NM_000186.4(CFH):c.336T>A (p.Tyr112Ter)
NM_000186.4(CFH):c.3377C>T (p.Ser1126Leu)
NM_000186.4(CFH):c.3427C>A (p.Gln1143Lys)
NM_000186.4(CFH):c.3437G>A (p.Gly1146Asp)
NM_000186.4(CFH):c.3459A>C (p.Arg1153Ser)
NM_000186.4(CFH):c.3472T>C (p.Ser1158Pro)
NM_000186.4(CFH):c.350+15C>T	rs190197472
NM_000186.4(CFH):c.3506T>C (p.Ile1169Thr)
NM_000186.4(CFH):c.3512G>A (p.Arg1171Gln)
NM_000186.4(CFH):c.3517A>T (p.Ile1173Phe)
NM_000186.4(CFH):c.3551C>T (p.Thr1184Ile)
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)	rs460897
NM_000186.4(CFH):c.3578C>T (p.Thr1193Ile)
NM_000186.4(CFH):c.3617G>A (p.Arg1206His)
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter)	rs121913051
NM_000186.4(CFH):c.39G>A (p.Trp13Ter)
NM_000186.4(CFH):c.418A>G (p.Ile140Val)	rs1351991613
NM_000186.4(CFH):c.427+14G>C	rs755841584
NM_000186.4(CFH):c.428T>C (p.Val143Ala)
NM_000186.4(CFH):c.497G>A (p.Arg166Gln)	rs770339409
NM_000186.4(CFH):c.497G>T (p.Arg166Leu)	rs770339409
NM_000186.4(CFH):c.49G>A (p.Val17Ile)
NM_000186.4(CFH):c.521T>A (p.Val174Glu)
NM_000186.4(CFH):c.530T>C (p.Val177Ala)
NM_000186.4(CFH):c.550A>T (p.Ile184Phe)
NM_000186.4(CFH):c.558A>T (p.Gly186=)
NM_000186.4(CFH):c.602A>G (p.Glu201Gly)
NM_000186.4(CFH):c.620-2A>G
NM_000186.4(CFH):c.626C>T (p.Ser209Leu)
NM_000186.4(CFH):c.658C>T (p.Pro220Ser)
NM_000186.4(CFH):c.669G>A (p.Gln223=)
NM_000186.4(CFH):c.773C>T (p.Pro258Leu)
NM_000186.4(CFH):c.791-20T>G
NM_000186.4(CFH):c.793A>G (p.Lys265Glu)
NM_000186.4(CFH):c.7C>G (p.Leu3Val)	rs139254423
NM_000186.4(CFH):c.7C>T (p.Leu3Phe)
NM_000186.4(CFH):c.866A>G (p.Glu289Gly)
NM_000186.4(CFH):c.878A>G (p.Gln293Arg)
NM_000186.4(CFH):c.928A>G (p.Thr310Ala)
NM_003647.3(DGKE):c.1068_1071del (p.Asn356fs)	rs764747885
NM_003647.3(DGKE):c.1442dup (p.Val482fs)	rs1567825026
NM_003647.3(DGKE):c.233C>G (p.Ala78Gly)	rs775804689
NM_003647.3(DGKE):c.427C>T (p.Gln143Ter)	rs1340500871
NM_003647.3(DGKE):c.610del (p.Thr204fs)	rs147972030
NM_003647.3(DGKE):c.610dup (p.Thr204fs)	rs147972030
NM_003647.3(DGKE):c.62_65dup (p.Ile23fs)	rs1214440741
NM_003647.3(DGKE):c.995T>C (p.Val332Ala)	rs1907467218
NM_030787.4(CFHR5):c.1004G>A (p.Gly335Glu)
NM_030787.4(CFHR5):c.1060A>G (p.Arg354Gly)
NM_030787.4(CFHR5):c.1118G>A (p.Gly373Glu)
NM_030787.4(CFHR5):c.111A>T (p.Glu37Asp)
NM_030787.4(CFHR5):c.1153dup (p.Arg385fs)
NM_030787.4(CFHR5):c.1165T>C (p.Cys389Arg)
NM_030787.4(CFHR5):c.1172C>T (p.Pro391Leu)
NM_030787.4(CFHR5):c.1193C>G (p.Ala398Gly)
NM_030787.4(CFHR5):c.1197G>C (p.Gln399His)
NM_030787.4(CFHR5):c.1241C>G (p.Ala414Gly)
NM_030787.4(CFHR5):c.1267C>T (p.Leu423Phe)
NM_030787.4(CFHR5):c.130C>T (p.Gln44Ter)
NM_030787.4(CFHR5):c.1321C>T (p.Arg441Cys)
NM_030787.4(CFHR5):c.1330G>A (p.Glu444Lys)
NM_030787.4(CFHR5):c.1357C>G (p.Pro453Ala)
NM_030787.4(CFHR5):c.1381A>C (p.Thr461Pro)
NM_030787.4(CFHR5):c.1396T>A (p.Ser466Thr)
NM_030787.4(CFHR5):c.1399G>A (p.Val467Ile)
NM_030787.4(CFHR5):c.1400dup (p.Tyr468fs)
NM_030787.4(CFHR5):c.1410A>C (p.Pro470=)
NM_030787.4(CFHR5):c.1424C>T (p.Thr475Met)
NM_030787.4(CFHR5):c.1436A>G (p.Gln479Arg)
NM_030787.4(CFHR5):c.1436A>T (p.Gln479Leu)
NM_030787.4(CFHR5):c.1453C>T (p.Gln485Ter)
NM_030787.4(CFHR5):c.1508G>A (p.Cys503Tyr)
NM_030787.4(CFHR5):c.1514-2A>G
NM_030787.4(CFHR5):c.1528T>C (p.Ser510Pro)
NM_030787.4(CFHR5):c.1591G>T (p.Ala531Ser)
NM_030787.4(CFHR5):c.1600G>A (p.Gly534Arg)
NM_030787.4(CFHR5):c.1603G>A (p.Asp535Asn)
NM_030787.4(CFHR5):c.1604A>G (p.Asp535Gly)
NM_030787.4(CFHR5):c.1607C>T (p.Ala536Val)
NM_030787.4(CFHR5):c.160T>A (p.Ser54Thr)
NM_030787.4(CFHR5):c.1615T>G (p.Phe539Val)
NM_030787.4(CFHR5):c.1651T>C (p.Ser551Pro)
NM_030787.4(CFHR5):c.1678G>A (p.Glu560Lys)
NM_030787.4(CFHR5):c.1697C>T (p.Pro566Leu)
NM_030787.4(CFHR5):c.1699A>G (p.Ile567Val)
NM_030787.4(CFHR5):c.1708T>C (p.Ter570Arg)
NM_030787.4(CFHR5):c.178G>C (p.Val60Leu)	rs370641856
NM_030787.4(CFHR5):c.206G>A (p.Arg69His)	rs375843181
NM_030787.4(CFHR5):c.215G>A (p.Cys72Tyr)
NM_030787.4(CFHR5):c.254-7T>A
NM_030787.4(CFHR5):c.271T>C (p.Phe91Leu)
NM_030787.4(CFHR5):c.295del (p.Ser99fs)
NM_030787.4(CFHR5):c.310C>T (p.His104Tyr)
NM_030787.4(CFHR5):c.349G>A (p.Gly117Arg)
NM_030787.4(CFHR5):c.376A>C (p.Asn126His)
NM_030787.4(CFHR5):c.385T>C (p.Cys129Arg)
NM_030787.4(CFHR5):c.394C>T (p.Arg132Trp)
NM_030787.4(CFHR5):c.430+4A>G
NM_030787.4(CFHR5):c.437A>G (p.Glu146Gly)
NM_030787.4(CFHR5):c.491G>A (p.Ser164Asn)
NM_030787.4(CFHR5):c.493T>C (p.Tyr165His)
NM_030787.4(CFHR5):c.514A>C (p.Lys172Gln)
NM_030787.4(CFHR5):c.525C>G (p.Cys175Trp)
NM_030787.4(CFHR5):c.535C>A (p.Leu179Ile)
NM_030787.4(CFHR5):c.542G>C (p.Arg181Thr)
NM_030787.4(CFHR5):c.59-20T>G
NM_030787.4(CFHR5):c.59-2A>C
NM_030787.4(CFHR5):c.599C>A (p.Thr200Lys)
NM_030787.4(CFHR5):c.607+4A>G
NM_030787.4(CFHR5):c.608-3T>C
NM_030787.4(CFHR5):c.616C>T (p.Arg206Ter)
NM_030787.4(CFHR5):c.61del (p.Thr21fs)
NM_030787.4(CFHR5):c.632C>G (p.Pro211Arg)
NM_030787.4(CFHR5):c.652G>T (p.Glu218Ter)
NM_030787.4(CFHR5):c.669A>C (p.Arg223Ser)
NM_030787.4(CFHR5):c.683G>C (p.Gly228Ala)
NM_030787.4(CFHR5):c.688A>G (p.Asn230Asp)
NM_030787.4(CFHR5):c.700G>A (p.Glu234Lys)
NM_030787.4(CFHR5):c.749_751del (p.Gln250_Cys251delinsArg)
NM_030787.4(CFHR5):c.759T>G (p.Asp253Glu)
NM_030787.4(CFHR5):c.767G>A (p.Trp256Ter)
NM_030787.4(CFHR5):c.768G>A (p.Trp256Ter)
NM_030787.4(CFHR5):c.76C>T (p.Pro26Ser)	rs1653577983
NM_030787.4(CFHR5):c.779C>T (p.Pro260Leu)
NM_030787.4(CFHR5):c.782C>T (p.Thr261Ile)
NM_030787.4(CFHR5):c.789T>A (p.Val263=)
NM_030787.4(CFHR5):c.7C>G (p.Leu3Val)
NM_030787.4(CFHR5):c.875C>T (p.Ser292Leu)
NM_030787.4(CFHR5):c.911T>A (p.Ile304Asn)
NM_030787.4(CFHR5):c.918T>G (p.Asn306Lys)
NM_030787.4(CFHR5):c.942A>T (p.Gly314=)
NM_030787.4(CFHR5):c.973del (p.Thr325fs)
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter)	rs751010317

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.