ClinVar Miner

List of variants in gene COL4A1 studied for Brain small vessel disease 1 with or without ocular anomalies

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 286
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174 0.99999
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001845.6(COL4A1):c.3877-9C>T rs589985 0.63996
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001845.6(COL4A1):c.903+18G>A rs482757 0.56804
NM_001845.6(COL4A1):c.780+7G>A rs598893 0.56762
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204 0.33827
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203 0.33819
NM_001845.6(COL4A1):c.4150+38C>G rs1816884 0.33505
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492 0.32653
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224 0.25994
NM_001845.6(COL4A1):c.85-11T>C rs41275104 0.22726
NM_001845.6(COL4A1):c.4640+7C>T rs2275843 0.14797
NM_001845.6(COL4A1):c.*587C>A rs13260 0.14311
NM_001845.6(COL4A1):c.234+8C>T rs9521650 0.13807
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724 0.13448
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897 0.07832
NC_000013.11:g.110148959A>G rs56406633 0.02412
NM_001845.6(COL4A1):c.958-9C>T rs73611465 0.02279
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.02118
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00357
NM_001845.6(COL4A1):c.*975A>C rs28362515 0.00280
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.*176A>G rs11545877 0.00235
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_001845.6(COL4A1):c.*1014C>T rs139916479 0.00121
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000 0.00061
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.3198+10G>A rs202002553 0.00048
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.633C>T (p.Pro211=) rs144773264 0.00041
NM_001845.6(COL4A1):c.*609T>C rs189966143 0.00036
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) rs151186561 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082 0.00030
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) rs145645897 0.00025
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.3742+14G>A rs377503687 0.00025
NM_001845.6(COL4A1):c.388-11T>C rs201801894 0.00024
NM_001845.6(COL4A1):c.831A>G (p.Lys277=) rs140978802 0.00024
NM_001845.6(COL4A1):c.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 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.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001845.6(COL4A1):c.*477G>T rs886049955 0.00014
NM_001845.6(COL4A1):c.*995C>T rs769502575 0.00014
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) rs140440365 0.00012
NM_001845.6(COL4A1):c.2968+12A>G rs752476229 0.00012
NM_001845.6(COL4A1):c.-71C>G rs867117624 0.00011
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776 0.00011
NM_001845.6(COL4A1):c.280-12C>T rs200121908 0.00010
NM_001845.6(COL4A1):c.*265A>G rs555157539 0.00009
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001845.6(COL4A1):c.4150+3G>A rs545498227 0.00009
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281 0.00007
NM_001845.6(COL4A1):c.*766G>A rs371130027 0.00006
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920 0.00006
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00006
NM_001845.6(COL4A1):c.*433T>G rs1051748243 0.00005
NM_001845.6(COL4A1):c.234+9G>A rs374115295 0.00005
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=) rs368143409 0.00004
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) rs561116319 0.00004
NM_001845.6(COL4A1):c.3743-15C>T rs375583789 0.00004
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415 0.00004
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002 0.00004
NM_001845.6(COL4A1):c.*1099G>A rs193065628 0.00003
NM_001845.6(COL4A1):c.*530A>G rs967749737 0.00003
NM_001845.6(COL4A1):c.*838T>C rs143486029 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp) rs369960952 0.00003
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg) rs750620293 0.00003
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800 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.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) rs750538499 0.00002
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=) rs376513801 0.00002
NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser) rs778680549 0.00002
NM_001845.6(COL4A1):c.957+6C>T rs754165294 0.00002
NM_001845.6(COL4A1):c.*1039A>G rs776016334 0.00001
NM_001845.6(COL4A1):c.*6C>G rs762512053 0.00001
NM_001845.6(COL4A1):c.-101G>T rs1884771928 0.00001
NM_001845.6(COL4A1):c.-20G>T rs886049965 0.00001
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) rs750386918 0.00001
NM_001845.6(COL4A1):c.145-5T>C rs749251030 0.00001
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=) rs749215704 0.00001
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=) rs765423555 0.00001
NM_001845.6(COL4A1):c.1837C>G (p.Pro613Ala) rs1432737813 0.00001
NM_001845.6(COL4A1):c.2095+7C>G rs886049961 0.00001
NM_001845.6(COL4A1):c.2344+11G>A rs886049960 0.00001
NM_001845.6(COL4A1):c.2344+12C>A rs373696600 0.00001
NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu) rs1351737168 0.00001
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) rs773443475 0.00001
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) rs754208625 0.00001
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) rs778143775 0.00001
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) rs200504781 0.00001
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe) rs1877889898 0.00001
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=) rs149543327 0.00001
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile) rs774198019 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 0.00001
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser) rs148290885 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 0.00001
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) rs139917163 0.00001
NM_001845.6(COL4A1):c.*32G>A rs1876439052
NM_001845.6(COL4A1):c.*510A>G rs886049954
NM_001845.6(COL4A1):c.*531T>A rs886049953
NM_001845.6(COL4A1):c.*634AT[8] rs886049952
NM_001845.6(COL4A1):c.*887del rs886049951
NM_001845.6(COL4A1):c.*952A>G rs1876400313
NM_001845.6(COL4A1):c.-90G>A rs113651836
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)
NM_001845.6(COL4A1):c.1081A>C (p.Lys361Gln) rs1879231791
NM_001845.6(COL4A1):c.1121-986C>T rs2139188713
NM_001845.6(COL4A1):c.144+1G>A rs2139245731
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)
NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=) rs139448202
NM_001845.6(COL4A1):c.1670G>C (p.Arg557Thr)
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) rs121912857
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)
NM_001845.6(COL4A1):c.1739G>A (p.Gly580Glu)
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys) rs767374916
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.1991-2A>G rs2139169623
NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=) rs1391929875
NM_001845.6(COL4A1):c.2036G>T (p.Gly679Val) rs2139169535
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) rs1555303720
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala) rs1878244032
NM_001845.6(COL4A1):c.2085del (p.Gly696fs) rs606231464
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) rs672601349
NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu) rs1878142219
NM_001845.6(COL4A1):c.2143C>T (p.Arg715Cys)
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg) rs1594555106
NM_001845.6(COL4A1):c.2194-1G>A rs606231465
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2281G>A (p.Gly761Arg) rs2139165606
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser) rs2139165584
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2337del (p.Ile780fs) rs2139165506
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu) rs1878013473
NM_001845.6(COL4A1):c.2458+1G>A rs1878012979
NM_001845.6(COL4A1):c.2458+1G>C rs1878012979
NM_001845.6(COL4A1):c.2472A>G (p.Ile824Met)
NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg) rs2139164302
NM_001845.6(COL4A1):c.2545G>A (p.Gly849Arg) rs2139164265
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu) rs1877963897
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg) rs776874008
NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg) rs1877962670
NM_001845.6(COL4A1):c.2627-1G>A rs1064796811
NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)
NM_001845.6(COL4A1):c.2753del (p.Gly918fs)
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly) rs1188217302
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg) rs1555303073
NM_001845.6(COL4A1):c.2848A>G (p.Lys950Glu)
NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg) rs2139162955
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)
NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp) rs2139162750
NM_001845.6(COL4A1):c.2924G>A (p.Gly975Glu) rs2139162708
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup) rs2139162654
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser) rs2139162416
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
NM_001845.6(COL4A1):c.3077G>C (p.Gly1026Ala) rs1877834496
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) rs1555302922
NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp) rs1877801384
NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys) rs1877800291
NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) rs886049958
NM_001845.6(COL4A1):c.3297A>C (p.Lys1099Asn)
NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp) rs2139160332
NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu) rs1877796592
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)
NM_001845.6(COL4A1):c.3407-2del rs2139159594
NM_001845.6(COL4A1):c.3526C>T (p.Pro1176Ser)
NM_001845.6(COL4A1):c.354C>T (p.Gly118=) rs1879852432
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3556+4A>G
NM_001845.6(COL4A1):c.3556+54_3877-1090del
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser) rs1877701802
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.3607C>T (p.Pro1203Ser)
NM_001845.6(COL4A1):c.364A>C (p.Ile122Leu)
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu) rs1348341976
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3742+1G>A rs2139156007
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu) rs2139154591
NM_001845.6(COL4A1):c.3761G>A (p.Gly1254Glu) rs2139154554
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu) rs1877518903
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) rs886049963
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) rs587777379
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4022-1G>A rs2139149392
NM_001845.6(COL4A1):c.4178G>A (p.Gly1393Glu)
NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.4250-2A>C rs2139146303
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4433G>A (p.Gly1478Asp)
NM_001845.6(COL4A1):c.4463G>T (p.Gly1488Val)
NM_001845.6(COL4A1):c.446C>G (p.Pro149Arg) rs1879801583
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.460_461delinsAT (p.Gly154Met)
NM_001845.6(COL4A1):c.4660C>A (p.Pro1554Thr)
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) rs1876543576
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) rs672601348
NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) rs542803991
NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg) rs1876538166
NM_001845.6(COL4A1):c.494A>G (p.His165Arg) rs200805263
NM_001845.6(COL4A1):c.495T>A (p.His165Gln) rs762125888
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.6(COL4A1):c.647A>G (p.Glu216Gly)
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) rs886049962
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.82A>G (p.Lys28Glu) rs886049964
NM_001845.6(COL4A1):c.89G>A (p.Gly30Asp)

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.