ClinVar Miner

List of variants studied for COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendancy

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 409
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HGVS dbSNP
NM_001845.5(COL4A1):c.*1404T>C rs56406633
NM_001845.6(COL4A1):c.*1014C>T rs139916479
NM_001845.6(COL4A1):c.*1039A>G rs776016334
NM_001845.6(COL4A1):c.*1099G>A rs193065628
NM_001845.6(COL4A1):c.*137G>A rs886049956
NM_001845.6(COL4A1):c.*176A>G rs11545877
NM_001845.6(COL4A1):c.*265A>G rs555157539
NM_001845.6(COL4A1):c.*433T>G
NM_001845.6(COL4A1):c.*477G>T rs886049955
NM_001845.6(COL4A1):c.*510A>G rs886049954
NM_001845.6(COL4A1):c.*530A>G
NM_001845.6(COL4A1):c.*531T>A rs886049953
NM_001845.6(COL4A1):c.*587C>A rs13260
NM_001845.6(COL4A1):c.*609T>C rs189966143
NM_001845.6(COL4A1):c.*634_*635AT[8] rs886049952
NM_001845.6(COL4A1):c.*6C>G rs762512053
NM_001845.6(COL4A1):c.*766G>A rs371130027
NM_001845.6(COL4A1):c.*838T>C
NM_001845.6(COL4A1):c.*887del rs886049951
NM_001845.6(COL4A1):c.*952A>G
NM_001845.6(COL4A1):c.*975A>C rs28362515
NM_001845.6(COL4A1):c.*995C>T
NM_001845.6(COL4A1):c.-101G>T
NM_001845.6(COL4A1):c.-103G>A rs538721412
NM_001845.6(COL4A1):c.-13C>G rs60069761
NM_001845.6(COL4A1):c.-20G>T rs886049965
NM_001845.6(COL4A1):c.-71C>G rs867117624
NM_001845.6(COL4A1):c.-90G>A
NM_001845.6(COL4A1):c.-90G>T rs113651836
NM_001845.6(COL4A1):c.1000-13C>G rs115358624
NM_001845.6(COL4A1):c.1000-5T>G rs75711155
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470
NM_001845.6(COL4A1):c.1084+5C>G rs74508743
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=)
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224
NM_001845.6(COL4A1):c.1353dup (p.Gly452fs)
NM_001845.6(COL4A1):c.1360A>G (p.Ile454Val)
NM_001845.6(COL4A1):c.1385A>G (p.Gln462Arg) rs750386918
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=)
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp)
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=)
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) rs1461754052
NM_001845.6(COL4A1):c.145-5T>C
NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer)
NM_001845.6(COL4A1):c.1466-6C>T rs183563055
NM_001845.6(COL4A1):c.1470C>T (p.Phe490=)
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) rs267606744
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) rs267606743
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) rs281865426
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=)
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) rs121912857
NM_001845.6(COL4A1):c.1752G>A (p.Glu584=)
NM_001845.6(COL4A1):c.1769G>A (p.Gly590Glu) rs113994107
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897
NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg)
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920
NM_001845.6(COL4A1):c.19G>C (p.Val7Leu) rs9515185
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) rs145645897
NM_001845.6(COL4A1):c.2016A>G (p.Pro672=)
NM_001845.6(COL4A1):c.2075C>G (p.Pro692Arg) rs1566356383
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu) rs1555303720
NM_001845.6(COL4A1):c.2085del (p.Gly696fs) rs606231464
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302
NM_001845.6(COL4A1):c.2095+7C>G rs886049961
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) rs561116319
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) rs672601349
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg)
NM_001845.6(COL4A1):c.2194-1G>A rs606231465
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) rs750538499
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala)
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg)
NM_001845.6(COL4A1):c.234+8C>T rs9521650
NM_001845.6(COL4A1):c.234+9G>A
NM_001845.6(COL4A1):c.2344+11G>A rs886049960
NM_001845.6(COL4A1):c.2344+12C>A
NM_001845.6(COL4A1):c.2492C>T (p.Pro831Leu)
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=)
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=)
NM_001845.6(COL4A1):c.2594A>G (p.Gln865Arg)
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val)
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg)
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) rs754208625
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) rs778143775
NM_001845.6(COL4A1):c.2774A>G (p.Asp925Gly)
NM_001845.6(COL4A1):c.280-12C>T rs200121908
NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg)
NM_001845.6(COL4A1):c.2869+6T>C rs557198622
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661
NM_001845.6(COL4A1):c.2968+12A>G rs752476229
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=)
NM_001845.6(COL4A1):c.3018T>G (p.Leu1006=) rs886049959
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=)
NM_001845.6(COL4A1):c.3082C>T (p.Pro1028Ser)
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) rs1555302922
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203
NM_001845.6(COL4A1):c.3198+10G>A rs202002553
NM_001845.6(COL4A1):c.3238G>A (p.Glu1080Lys)
NM_001845.6(COL4A1):c.3241A>G (p.Lys1081Glu) rs886049958
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile)
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800
NM_001845.6(COL4A1):c.3506-7C>G rs377592935
NM_001845.6(COL4A1):c.354C>T (p.Gly118=)
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=) rs1057518654
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3742+14G>A rs377503687
NM_001845.6(COL4A1):c.3743-15C>T
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=)
NM_001845.6(COL4A1):c.380G>T (p.Gly127Val) rs886049963
NM_001845.6(COL4A1):c.3877-8G>A rs370539477
NM_001845.6(COL4A1):c.3877-9C>T rs589985
NM_001845.6(COL4A1):c.388-11T>C rs201801894
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126
NM_001845.6(COL4A1):c.3949+10C>T rs188122235
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.3996C>T (p.Gly1332=) rs150857429
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser)
NM_001845.6(COL4A1):c.4150+3G>A rs545498227
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala)
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000
NM_001845.6(COL4A1):c.4250-12C>T rs202055679
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val)
NM_001845.6(COL4A1):c.4640+7C>T rs2275843
NM_001845.6(COL4A1):c.4640+8G>A rs117566874
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281
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.4800C>T (p.Ser1600=) rs650724
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) rs672601348
NM_001845.6(COL4A1):c.4928A>G (p.Lys1643Arg)
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242
NM_001845.6(COL4A1):c.494A>G (p.His165Arg)
NM_001845.6(COL4A1):c.495T>A (p.His165Gln) rs762125888
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=)
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612
NM_001845.6(COL4A1):c.553-8C>T rs199534388
NM_001845.6(COL4A1):c.616-11G>C rs645114
NM_001845.6(COL4A1):c.633C>T (p.Pro211=)
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466
NM_001845.6(COL4A1):c.766A>G (p.Thr256Ala) rs886049962
NM_001845.6(COL4A1):c.780+7G>A rs598893
NM_001845.6(COL4A1):c.781-12G>A rs202198648
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989
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.831A>G (p.Lys277=)
NM_001845.6(COL4A1):c.85-11T>C rs41275104
NM_001845.6(COL4A1):c.859-10T>C rs677877
NM_001845.6(COL4A1):c.904-9C>T rs201481886
NM_001845.6(COL4A1):c.921dup (p.Gly308fs)
NM_001845.6(COL4A1):c.957+6C>T
NM_001845.6(COL4A1):c.958-9C>T rs73611465
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714
NM_001846.4(COL4A2):c.*22C>A
NM_001846.4(COL4A2):c.*242C>T rs886049982
NM_001846.4(COL4A2):c.*254C>T
NM_001846.4(COL4A2):c.*25T>C rs113331483
NM_001846.4(COL4A2):c.*280C>G rs118089787
NM_001846.4(COL4A2):c.*366A>T
NM_001846.4(COL4A2):c.*371A>G
NM_001846.4(COL4A2):c.*390G>A
NM_001846.4(COL4A2):c.*417C>G rs10509
NM_001846.4(COL4A2):c.*450G>T rs541941155
NM_001846.4(COL4A2):c.*493C>G rs770230018
NM_001846.4(COL4A2):c.*541C>T rs1049906
NM_001846.4(COL4A2):c.*557A>G rs1049931
NM_001846.4(COL4A2):c.*563A>G rs886049983
NM_001846.4(COL4A2):c.*650T>C rs1049977
NM_001846.4(COL4A2):c.*663T>C rs7711
NM_001846.4(COL4A2):c.*695T>C rs11555634
NM_001846.4(COL4A2):c.*727G>C rs15457
NM_001846.4(COL4A2):c.*769G>A rs2274543
NM_001846.4(COL4A2):c.*76T>C rs422733
NM_001846.4(COL4A2):c.*796T>C
NM_001846.4(COL4A2):c.*800G>A rs73618180
NM_001846.4(COL4A2):c.*830T>C rs886049984
NM_001846.4(COL4A2):c.-101G>A rs528084465
NM_001846.4(COL4A2):c.-117C>T
NM_001846.4(COL4A2):c.-133A>G rs35466678
NM_001846.4(COL4A2):c.-203T>C rs7991332
NM_001846.4(COL4A2):c.-215C>A
NM_001846.4(COL4A2):c.-215C>T rs7990017
NM_001846.4(COL4A2):c.-220C>T
NM_001846.4(COL4A2):c.-232C>G rs7990009
NM_001846.4(COL4A2):c.-241C>T
NM_001846.4(COL4A2):c.-277A>C rs7989823
NM_001846.4(COL4A2):c.-277A>G
NM_001846.4(COL4A2):c.-44-5T>C rs886049966
NM_001846.4(COL4A2):c.-77G>A
NM_001846.4(COL4A2):c.-87G>A
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=) rs4103
NM_001846.4(COL4A2):c.1053C>T (p.Tyr351=)
NM_001846.4(COL4A2):c.1078+12A>G
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu) rs746749693
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=) rs76425569
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro)
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=)
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=) rs74941798
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr)
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val) rs72657933
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=)
NM_001846.4(COL4A2):c.1308C>T (p.Pro436=) rs78615289
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg) rs192250572
NM_001846.4(COL4A2):c.1339+14A>G rs368543918
NM_001846.4(COL4A2):c.1340-1G>C rs1566544453
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr) rs202017641
NM_001846.4(COL4A2):c.1451G>C (p.Arg484Thr) rs886049972
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=) rs7990214
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys) rs7990383
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser)
NM_001846.4(COL4A2):c.1596+8G>C
NM_001846.4(COL4A2):c.1597-1G>A rs745376502
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys) rs112262533
NM_001846.4(COL4A2):c.1669+5G>C
NM_001846.4(COL4A2):c.1706G>A (p.Gly569Glu) rs886049973
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913
NM_001846.4(COL4A2):c.1772C>G (p.Pro591Arg) rs886049974
NM_001846.4(COL4A2):c.1776+1G>A rs886039602
NM_001846.4(COL4A2):c.1776C>T (p.Pro592=)
NM_001846.4(COL4A2):c.1777-7C>T rs3803236
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg) rs201676472
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp)
NM_001846.4(COL4A2):c.1868T>A (p.Leu623Gln) rs886049975
NM_001846.4(COL4A2):c.1914C>T (p.Ala638=)
NM_001846.4(COL4A2):c.1945C>T (p.Pro649Ser) rs370641410
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885
NM_001846.4(COL4A2):c.1978+10A>G rs766115921
NM_001846.4(COL4A2):c.1979-6C>T rs190632602
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=) rs148709279
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser)
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=)
NM_001846.4(COL4A2):c.2039-3C>T rs202208839
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala) rs3803230
NM_001846.4(COL4A2):c.2095+14G>A
NM_001846.4(COL4A2):c.2095+5T>C
NM_001846.4(COL4A2):c.2095+9C>T rs369918222
NM_001846.4(COL4A2):c.2102A>G (p.Lys701Arg) rs78829338
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser) rs9583500
NM_001846.4(COL4A2):c.2187G>T (p.Gly729=)
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser)
NM_001846.4(COL4A2):c.2244C>T (p.Leu748=)
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=)
NM_001846.4(COL4A2):c.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) rs780116763
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=) rs181706751
NM_001846.4(COL4A2):c.2502G>A (p.Leu834=)
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=)
NM_001846.4(COL4A2):c.257G>A (p.Arg86His)
NM_001846.4(COL4A2):c.2587+8C>T rs2281974
NM_001846.4(COL4A2):c.2588-11C>T rs9521803
NM_001846.4(COL4A2):c.2758+8T>C
NM_001846.4(COL4A2):c.2759-5T>C rs3803228
NM_001846.4(COL4A2):c.2902+1G>A
NM_001846.4(COL4A2):c.2902+5G>C
NM_001846.4(COL4A2):c.2903-12A>G rs2296853
NM_001846.4(COL4A2):c.297G>A (p.Thr99=) rs4238272
NM_001846.4(COL4A2):c.3042A>C (p.Pro1014=)
NM_001846.4(COL4A2):c.305A>G (p.Lys102Arg)
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=) rs201630262
NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu) rs387906603
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) rs772439696
NM_001846.4(COL4A2):c.315+14G>T rs78713113
NM_001846.4(COL4A2):c.316-1G>C rs1566525717
NM_001846.4(COL4A2):c.316-5C>G rs886049967
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp)
NM_001846.4(COL4A2):c.3208-14A>G rs886049977
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=) rs148837052
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299
NM_001846.4(COL4A2):c.3286A>G (p.Thr1096Ala) rs886049978
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) rs184812559
NM_001846.4(COL4A2):c.3332C>T (p.Thr1111Ile) rs886049979
NM_001846.4(COL4A2):c.3346+7A>G rs201020737
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=) rs201762977
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.3454+13G>A
NM_001846.4(COL4A2):c.3455-14G>A rs369510198
NM_001846.4(COL4A2):c.3455-5C>G rs2296849
NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp) rs387906602
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp)
NM_001846.4(COL4A2):c.361-11C>G
NM_001846.4(COL4A2):c.361-5C>T rs886049968
NM_001846.4(COL4A2):c.3634+12C>T rs148069014
NM_001846.4(COL4A2):c.3634+13G>A rs188658233
NM_001846.4(COL4A2):c.3634+4C>T rs2274544
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=) rs115373326
NM_001846.4(COL4A2):c.3856C>T (p.Pro1286Ser) rs75571926
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg) rs201627758
NM_001846.4(COL4A2):c.395C>T (p.Pro132Leu) rs199561972
NM_001846.4(COL4A2):c.4084G>A (p.Gly1362Arg)
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=) rs4773199
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304
NM_001846.4(COL4A2):c.4123G>A (p.Asp1375Asn)
NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg)
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=) rs372424
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947
NM_001846.4(COL4A2):c.415G>A (p.Gly139Arg) rs373792475
NM_001846.4(COL4A2):c.4167G>A (p.Gly1389=)
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val) rs531809013
NM_001846.4(COL4A2):c.4256T>C (p.Met1419Thr) rs191708663
NM_001846.4(COL4A2):c.4286-12G>A
NM_001846.4(COL4A2):c.4403-10C>T
NM_001846.4(COL4A2):c.4414C>T (p.Arg1472Cys)
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=) rs371857202
NM_001846.4(COL4A2):c.4436C>T (p.Pro1479Leu) rs377115391
NM_001846.4(COL4A2):c.4452C>T (p.Arg1484=)
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile) rs201426733
NM_001846.4(COL4A2):c.450C>T (p.Pro150=)
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=) rs445348
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) rs186888528
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=) rs391859
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=) rs368443057
NM_001846.4(COL4A2):c.468C>T (p.Thr156=) rs765157156
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=)
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) rs72659607
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) rs201956616
NM_001846.4(COL4A2):c.4776G>T (p.Val1592=) rs59395531
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769
NM_001846.4(COL4A2):c.4881+11T>C
NM_001846.4(COL4A2):c.4882-13C>G rs375187382
NM_001846.4(COL4A2):c.4882-15C>T rs114427900
NM_001846.4(COL4A2):c.4882-7T>C rs116548600
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro)
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu) rs77786415
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) rs7320105
NM_001846.4(COL4A2):c.4968C>T (p.Ile1656=) rs148666408
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501
NM_001846.4(COL4A2):c.49C>T (p.Leu17=)
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=) rs199809827
NM_001846.4(COL4A2):c.5111G>T (p.Arg1704Leu) rs747313370
NM_001846.4(COL4A2):c.549+15G>C rs74124318
NM_001846.4(COL4A2):c.549+5G>A rs886049969
NM_001846.4(COL4A2):c.550-13T>C rs572328853
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe) rs62621885
NM_001846.4(COL4A2):c.576C>T (p.Val192=) rs190117538
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319
NM_001846.4(COL4A2):c.684+8G>A rs200682990
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=)
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016
NM_001846.4(COL4A2):c.751A>G (p.Asn251Asp)
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) rs369814411
NM_001846.4(COL4A2):c.827G>A (p.Gly276Asp)
NM_001846.4(COL4A2):c.862-5C>T rs555514799
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753
NM_001846.4(COL4A2):c.912+9C>T rs7983979
NM_001846.4(COL4A2):c.992A>G (p.Asp331Gly) rs886049971
NM_024656.4(COLGALT1):c.1096del (p.Glu366fs) rs1568481204
NM_024656.4(COLGALT1):c.1129G>C (p.Gly377Arg) rs1568481244
NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg) rs1478523191
NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro) rs181844791

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