ClinVar Miner

List of variants in gene COL4A2 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 517
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.03076
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_001846.4(COL4A2):c.2204-261G>A rs7337139 0.02771
NM_001846.4(COL4A2):c.315+19T>C rs74967960 0.02658
NM_001846.4(COL4A2):c.2039-95G>A rs115480301 0.02253
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_001846.4(COL4A2):c.2096-99C>T rs118191562 0.01868
NM_001846.4(COL4A2):c.1777-234A>G rs117883920 0.01833
NM_001846.4(COL4A2):c.2038+41C>T rs41275112 0.01628
NM_001846.4(COL4A2):c.912+121G>A rs72657930 0.01549
NM_001846.4(COL4A2):c.1079-217A>G rs144972936 0.01481
NM_001846.4(COL4A2):c.477+309C>T rs117184977 0.01454
NM_001846.4(COL4A2):c.2039-201C>T rs41275114 0.01426
NM_001846.4(COL4A2):c.3025+222C>T rs140592291 0.01380
NM_001846.4(COL4A2):c.2095+305G>A rs143679930 0.01284
NM_001846.4(COL4A2):c.1189+79G>A rs75082893 0.01276
NM_001846.4(COL4A2):c.649-16C>T rs56269522 0.01248
NM_001846.4(COL4A2):c.3025+293A>G rs183927448 0.01215
NM_001846.4(COL4A2):c.4402+267G>A rs78924568 0.01196
NM_001846.4(COL4A2):c.4285+36G>A rs113156544 0.01170
NM_001846.4(COL4A2):c.4594+99T>C rs114363521 0.01159
NM_001846.4(COL4A2):c.1190-122C>T rs115757323 0.01156
NM_001846.4(COL4A2):c.3346+26C>T rs115953532 0.01132
NM_001846.4(COL4A2):c.1078+250A>G rs61290409 0.01126
NM_001846.4(COL4A2):c.4595-112C>G rs77147267 0.01124
NM_001846.4(COL4A2):c.4881+138G>A rs114861941 0.01123
NM_001846.4(COL4A2):c.1777-56G>A rs73619501 0.01122
NM_001846.4(COL4A2):c.3025+113C>T rs150599165 0.01116
NM_001846.4(COL4A2):c.4882-23G>T rs80085150 0.01095
NM_001846.4(COL4A2):c.*25T>C rs113331483 0.01072
NM_001846.4(COL4A2):c.1340-20A>C rs9515217 0.01061
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_001846.4(COL4A2):c.2758+34C>T rs115579754 0.00947
NM_001846.4(COL4A2):c.2204-224G>A rs111748290 0.00922
NM_001846.4(COL4A2):c.3026-192T>C rs374566182 0.00909
NM_001846.4(COL4A2):c.1777-213C>A rs4773189 0.00892
NM_001846.4(COL4A2):c.732C>T (p.Asp244=) rs144319016 0.00870
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875 0.00869
NM_001846.4(COL4A2):c.1189+244C>T rs112852275 0.00787
NM_001846.4(COL4A2):c.1190-250A>C rs113377513 0.00781
NM_001846.4(COL4A2):c.861+200T>G rs12184943 0.00779
NM_001846.4(COL4A2):c.913-45A>G rs79896813 0.00779
NM_001846.4(COL4A2):c.888A>G (p.Gly296=) rs114482753 0.00777
NM_001846.4(COL4A2):c.477+307G>A rs140919896 0.00774
NM_001846.4(COL4A2):c.913-103A>G rs76876092 0.00773
NM_001846.4(COL4A2):c.913-235T>A rs78305534 0.00771
NM_001846.4(COL4A2):c.913-211del rs149395967 0.00770
NM_001846.4(COL4A2):c.957+24G>A rs114263701 0.00770
NM_001846.4(COL4A2):c.913-125C>G rs74674005 0.00769
NM_001846.4(COL4A2):c.913-250C>T rs79191550 0.00769
NM_001846.4(COL4A2):c.913-75G>A rs114727535 0.00769
NM_001846.4(COL4A2):c.957+258T>C rs181100758 0.00769
NM_001846.4(COL4A2):c.3347-39G>A rs35120918 0.00764
NM_001846.4(COL4A2):c.2759-245C>G rs74468721 0.00763
NM_001846.4(COL4A2):c.3455-309G>C rs116884614 0.00753
NM_001846.4(COL4A2):c.958-130G>A rs116316567 0.00721
NM_001846.4(COL4A2):c.958-174A>T rs79854584 0.00719
NM_001846.4(COL4A2):c.3563-289G>A rs138716833 0.00714
NM_001846.4(COL4A2):c.574G>T (p.Val192Phe) rs62621885 0.00695
NM_001846.4(COL4A2):c.1011G>A (p.Lys337=) rs147765396 0.00683
NM_001846.4(COL4A2):c.1189+212A>T rs143417062 0.00636
NM_001846.4(COL4A2):c.1189+84C>T rs9583496 0.00592
NM_001846.4(COL4A2):c.3272-89T>C rs113260175 0.00580
NM_001846.4(COL4A2):c.4139-165G>A rs184429012 0.00560
NM_001846.4(COL4A2):c.3454+46G>A rs384987 0.00559
NM_001846.4(COL4A2):c.1432+213G>A rs73619404 0.00545
NM_001846.4(COL4A2):c.1597-145C>T rs114827832 0.00532
NM_001846.4(COL4A2):c.3026-175G>A rs187135459 0.00498
NM_001846.4(COL4A2):c.3634+13G>A rs188658233 0.00491
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys) rs112262533 0.00490
NM_001846.4(COL4A2):c.685-270A>G rs187413085 0.00471
NM_001846.4(COL4A2):c.1979-6C>T rs190632602 0.00465
NM_001846.4(COL4A2):c.3642C>T (p.Asp1214=) rs115373326 0.00459
NM_001846.4(COL4A2):c.2095+35C>T rs188306019 0.00446
NM_001846.4(COL4A2):c.3025+268G>A rs528765512 0.00444
NM_001846.4(COL4A2):c.2758+45G>A rs190390896 0.00433
NM_001846.4(COL4A2):c.862-109C>T rs370282396 0.00431
NM_001846.4(COL4A2):c.4929G>A (p.Pro1643=) rs7320105 0.00302
NM_001846.4(COL4A2):c.3234A>C (p.Ala1078=) rs148837052 0.00297
NM_001846.4(COL4A2):c.3634+12C>T rs148069014 0.00210
NM_001846.4(COL4A2):c.316-17dup rs201980714 0.00181
NM_001846.4(COL4A2):c.1375G>A (p.Ala459Thr) rs202017641 0.00179
NM_001846.4(COL4A2):c.3346+7A>G rs201020737 0.00153
NM_001846.4(COL4A2):c.2484T>C (p.Pro828=) rs181706751 0.00151
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747 0.00151
NM_001846.4(COL4A2):c.3920C>G (p.Pro1307Arg) rs201627758 0.00138
NM_001846.4(COL4A2):c.4578G>A (p.Ala1526=) rs186888528 0.00131
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=) rs201762977 0.00095
NM_001846.4(COL4A2):c.315+4C>T rs145900757 0.00091
NM_001846.4(COL4A2):c.-87G>A rs895274784 0.00072
NM_001846.4(COL4A2):c.385A>G (p.Arg129Gly) rs376759822 0.00071
NM_001846.4(COL4A2):c.3883C>T (p.Arg1295Trp) rs187526694 0.00068
NM_001846.4(COL4A2):c.3478C>T (p.Pro1160Ser) rs200189899 0.00044
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001846.4(COL4A2):c.3569C>T (p.Pro1190Leu) rs199782906 0.00039
NM_001846.4(COL4A2):c.1532C>T (p.Pro511Leu) rs373398289 0.00037
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=) rs201510187 0.00032
NM_001846.4(COL4A2):c.4428G>A (p.Pro1476=) rs371857202 0.00027
NM_001846.4(COL4A2):c.4916C>T (p.Ser1639Leu) rs77786415 0.00024
NM_001846.4(COL4A2):c.608A>T (p.His203Leu) rs201716258 0.00024
NM_001846.4(COL4A2):c.5085C>T (p.Ala1695=) rs150809854 0.00021
NM_001846.4(COL4A2):c.1365A>G (p.Ala455=) rs375636262 0.00016
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) rs201058867 0.00016
NM_001846.4(COL4A2):c.3135C>T (p.Pro1045=) rs187735087 0.00016
NM_001846.4(COL4A2):c.3257C>T (p.Ala1086Val) rs370679299 0.00016
NM_001846.4(COL4A2):c.328G>A (p.Val110Ile) rs537746077 0.00014
NM_001846.4(COL4A2):c.4915T>C (p.Ser1639Pro) rs756772866 0.00014
NM_001846.4(COL4A2):c.3988G>A (p.Asp1330Asn) rs370540848 0.00013
NM_001846.4(COL4A2):c.3503G>A (p.Arg1168Gln) rs369072485 0.00012
NM_001846.4(COL4A2):c.143G>T (p.Ser48Ile) rs1053256164 0.00011
NM_001846.4(COL4A2):c.1978+10A>G rs766115921 0.00011
NM_001846.4(COL4A2):c.4437G>A (p.Pro1479=) rs187904842 0.00011
NM_001846.4(COL4A2):c.4456G>A (p.Val1486Ile) rs201426733 0.00011
NM_001846.4(COL4A2):c.4494G>A (p.Thr1498=) rs531949779 0.00011
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) rs369814411 0.00011
NM_001846.4(COL4A2):c.100-18T>C rs368216378 0.00009
NM_001846.4(COL4A2):c.1256C>T (p.Ala419Val) rs72657933 0.00009
NM_001846.4(COL4A2):c.1257G>A (p.Ala419=) rs777564732 0.00009
NM_001846.4(COL4A2):c.1748A>G (p.Asp583Gly) rs368207474 0.00009
NM_001846.4(COL4A2):c.3635-4A>C rs536636278 0.00009
NM_001846.4(COL4A2):c.4731C>T (p.Pro1577=) rs72659607 0.00009
NM_001846.4(COL4A2):c.478-18A>G rs753463828 0.00009
NM_001846.4(COL4A2):c.5070C>T (p.Ala1690=) rs199809827 0.00009
NM_001846.4(COL4A2):c.538G>A (p.Asp180Asn) rs568655744 0.00009
NM_001846.4(COL4A2):c.2200C>T (p.Pro734Ser) rs761169216 0.00008
NM_001846.4(COL4A2):c.3246C>T (p.Gly1082=) rs373937864 0.00008
NM_001846.4(COL4A2):c.3256G>A (p.Ala1086Thr) rs368382267 0.00008
NM_001846.4(COL4A2):c.4286-12G>A rs553663121 0.00008
NM_001846.4(COL4A2):c.4403-10C>T rs974483781 0.00008
NM_001846.4(COL4A2):c.1776C>T (p.Pro592=) rs767094122 0.00007
NM_001846.4(COL4A2):c.2274C>T (p.Ile758=) rs760926154 0.00007
NM_001846.4(COL4A2):c.4436C>T (p.Pro1479Leu) rs377115391 0.00007
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg) rs200314049 0.00007
NM_001846.4(COL4A2):c.1395C>T (p.Pro465=) rs201543646 0.00006
NM_001846.4(COL4A2):c.1945C>T (p.Pro649Ser) rs370641410 0.00006
NM_001846.4(COL4A2):c.1957G>A (p.Ala653Thr) rs199875726 0.00006
NM_001846.4(COL4A2):c.2180G>A (p.Arg727His) rs774443437 0.00006
NM_001846.4(COL4A2):c.242C>T (p.Pro81Leu) rs750061237 0.00006
NM_001846.4(COL4A2):c.2748C>T (p.Pro916=) rs371759473 0.00006
NM_001846.4(COL4A2):c.3180G>A (p.Thr1060=) rs745985712 0.00006
NM_001846.4(COL4A2):c.3258G>A (p.Ala1086=) rs267603756 0.00006
NM_001846.4(COL4A2):c.331T>G (p.Ser111Ala) rs769112358 0.00006
NM_001846.4(COL4A2):c.4355G>A (p.Arg1452Gln) rs766357778 0.00006
NM_001846.4(COL4A2):c.4683C>T (p.Asn1561=) rs368443057 0.00006
NM_001846.4(COL4A2):c.648+13A>G rs375316442 0.00006
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln) rs201640075 0.00006
NM_001846.4(COL4A2):c.2025G>A (p.Glu675=) rs374972536 0.00005
NM_001846.4(COL4A2):c.2038+9G>T rs779062064 0.00005
NM_001846.4(COL4A2):c.3018C>T (p.Gly1006=) rs761092114 0.00005
NM_001846.4(COL4A2):c.395C>T (p.Pro132Leu) rs199561972 0.00005
NM_001846.4(COL4A2):c.1020C>T (p.Ala340=) rs539880947 0.00004
NM_001846.4(COL4A2):c.1078+12A>G rs1473673298 0.00004
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr) rs753867828 0.00004
NM_001846.4(COL4A2):c.1570G>A (p.Gly524Ser) rs773783775 0.00004
NM_001846.4(COL4A2):c.1758C>T (p.Pro586=) rs765662785 0.00004
NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val) rs761867026 0.00004
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=) rs764978267 0.00004
NM_001846.4(COL4A2):c.2842G>A (p.Glu948Lys) rs199678709 0.00004
NM_001846.4(COL4A2):c.3030C>A (p.Ile1010=) rs752487484 0.00004
NM_001846.4(COL4A2):c.3502C>T (p.Arg1168Trp) rs375813265 0.00004
NM_001846.4(COL4A2):c.4138+11G>A rs763492467 0.00004
NM_001846.4(COL4A2):c.4275C>T (p.Pro1425=) rs529617799 0.00004
NM_001846.4(COL4A2):c.4296G>A (p.Gly1432=) rs377266231 0.00004
NM_001846.4(COL4A2):c.4881+11T>C rs370209795 0.00004
NM_001846.4(COL4A2):c.5033C>T (p.Thr1678Ile) rs201647127 0.00004
NM_001846.4(COL4A2):c.744G>A (p.Pro248=) rs776546128 0.00004
NM_001846.4(COL4A2):c.861+15G>A rs762275713 0.00004
NM_001846.4(COL4A2):c.1263C>T (p.Tyr421=) rs757264758 0.00003
NM_001846.4(COL4A2):c.1560C>T (p.Pro520=) rs369872587 0.00003
NM_001846.4(COL4A2):c.1911C>T (p.Asp637=) rs764883197 0.00003
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=) rs767050469 0.00003
NM_001846.4(COL4A2):c.3562+20G>A rs375599870 0.00003
NM_001846.4(COL4A2):c.4305G>A (p.Gly1435=) rs770555680 0.00003
NM_001846.4(COL4A2):c.4953C>T (p.Arg1651=) rs773440120 0.00003
NM_001846.4(COL4A2):c.5042A>G (p.Glu1681Gly) rs777905652 0.00003
NM_001846.4(COL4A2):c.550-13T>C rs572328853 0.00003
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=) rs781075845 0.00002
NM_001846.4(COL4A2):c.2039-7T>C rs760622067 0.00002
NM_001846.4(COL4A2):c.2095+14G>A rs768710957 0.00002
NM_001846.4(COL4A2):c.2425+15G>A rs768767837 0.00002
NM_001846.4(COL4A2):c.257G>A (p.Arg86His) rs751272301 0.00002
NM_001846.4(COL4A2):c.2856C>T (p.Phe952=) rs747574881 0.00002
NM_001846.4(COL4A2):c.2902+5G>C rs377140964 0.00002
NM_001846.4(COL4A2):c.3993C>T (p.Ser1331=) rs754253271 0.00002
NM_001846.4(COL4A2):c.415G>A (p.Gly139Arg) rs373792475 0.00002
NM_001846.4(COL4A2):c.4347C>T (p.Pro1449=) rs375772742 0.00002
NM_001846.4(COL4A2):c.4602G>A (p.Ala1534=) rs549661094 0.00002
NM_001846.4(COL4A2):c.461G>A (p.Gly154Glu) rs375700657 0.00002
NM_001846.4(COL4A2):c.4744G>A (p.Glu1582Lys) rs376636910 0.00002
NM_001846.4(COL4A2):c.4788G>A (p.Pro1596=) rs544072830 0.00002
NM_001846.4(COL4A2):c.599G>A (p.Arg200His) rs748422794 0.00002
NM_001846.4(COL4A2):c.861+7C>T rs745988427 0.00002
NM_001846.4(COL4A2):c.1053C>T (p.Tyr351=) rs768513619 0.00001
NM_001846.4(COL4A2):c.1264G>A (p.Gly422Arg) rs779091629 0.00001
NM_001846.4(COL4A2):c.1290G>A (p.Lys430=) rs1881493972 0.00001
NM_001846.4(COL4A2):c.1407A>G (p.Gly469=) rs1255629613 0.00001
NM_001846.4(COL4A2):c.1422G>A (p.Lys474=) rs756953202 0.00001
NM_001846.4(COL4A2):c.1433-6C>T rs1163508947 0.00001
NM_001846.4(COL4A2):c.1437C>T (p.Asp479=) rs757480095 0.00001
NM_001846.4(COL4A2):c.1487C>T (p.Pro496Leu) rs570979461 0.00001
NM_001846.4(COL4A2):c.1557C>T (p.Asp519=) rs781646506 0.00001
NM_001846.4(COL4A2):c.1704C>T (p.Pro568=) rs757638360 0.00001
NM_001846.4(COL4A2):c.1879G>A (p.Gly627Ser) rs771559117 0.00001
NM_001846.4(COL4A2):c.2095+5T>C rs376823280 0.00001
NM_001846.4(COL4A2):c.2590C>T (p.Leu864=) rs903526900 0.00001
NM_001846.4(COL4A2):c.2902+11C>T rs773477481 0.00001
NM_001846.4(COL4A2):c.2902+9C>G rs1368028290 0.00001
NM_001846.4(COL4A2):c.3026-12G>T rs754587598 0.00001
NM_001846.4(COL4A2):c.3357A>C (p.Gly1119=) rs768749332 0.00001
NM_001846.4(COL4A2):c.4005C>T (p.Gly1335=) rs780571953 0.00001
NM_001846.4(COL4A2):c.4017G>T (p.Val1339=) rs941312771 0.00001
NM_001846.4(COL4A2):c.403G>A (p.Asp135Asn) rs369865437 0.00001
NM_001846.4(COL4A2):c.4167G>A (p.Gly1389=) rs776334302 0.00001
NM_001846.4(COL4A2):c.4208C>A (p.Thr1403Lys) rs560510434 0.00001
NM_001846.4(COL4A2):c.4212G>C (p.Val1404=) rs781225627 0.00001
NM_001846.4(COL4A2):c.450C>T (p.Pro150=) rs775266949 0.00001
NM_001846.4(COL4A2):c.468C>T (p.Thr156=) rs765157156 0.00001
NM_001846.4(COL4A2):c.4890G>A (p.Ala1630=) rs372282008 0.00001
NM_001846.4(COL4A2):c.4906G>A (p.Gly1636Ser) rs753412782 0.00001
NM_001846.4(COL4A2):c.4971A>G (p.Glu1657=) rs903859636 0.00001
NM_001846.4(COL4A2):c.4986C>T (p.Arg1662=) rs769943102 0.00001
NM_001846.4(COL4A2):c.5076G>A (p.Thr1692=) rs376020578 0.00001
NM_001846.4(COL4A2):c.550-15T>C rs367748098 0.00001
NM_001846.4(COL4A2):c.586-4A>G rs761817376 0.00001
NM_001846.4(COL4A2):c.684+14G>C rs138922857 0.00001
NM_001846.4(COL4A2):c.69C>T (p.Thr23=) rs774171520 0.00001
NM_001846.4(COL4A2):c.735A>G (p.Val245=) rs1594212819 0.00001
NM_001846.4(COL4A2):c.756G>A (p.Gly252=) rs766567468 0.00001
NM_001846.4(COL4A2):c.99+7C>G rs1167797748 0.00001
NM_001846.4(COL4A2):c.-44-140G>C rs143930805
NM_001846.4(COL4A2):c.100-6T>C
NM_001846.4(COL4A2):c.1011+17T>C
NM_001846.4(COL4A2):c.1011+8C>T
NM_001846.4(COL4A2):c.1011+9G>A
NM_001846.4(COL4A2):c.1079-12T>G
NM_001846.4(COL4A2):c.1079-18G>A
NM_001846.4(COL4A2):c.1092C>T (p.Asp364=)
NM_001846.4(COL4A2):c.111G>A (p.Lys37=)
NM_001846.4(COL4A2):c.1149G>A (p.Pro383=)
NM_001846.4(COL4A2):c.1158A>G (p.Pro386=)
NM_001846.4(COL4A2):c.1189+20T>C
NM_001846.4(COL4A2):c.1190-12G>A
NM_001846.4(COL4A2):c.1190-4T>G
NM_001846.4(COL4A2):c.1190-7G>A
NM_001846.4(COL4A2):c.1197G>A (p.Arg399=) rs2139481195
NM_001846.4(COL4A2):c.1208C>T (p.Pro403Leu) rs772448912
NM_001846.4(COL4A2):c.1209G>A (p.Pro403=)
NM_001846.4(COL4A2):c.1224C>T (p.Pro408=)
NM_001846.4(COL4A2):c.123G>A (p.Pro41=)
NM_001846.4(COL4A2):c.1245C>T (p.Pro415=)
NM_001846.4(COL4A2):c.1259T>C (p.Leu420Pro)
NM_001846.4(COL4A2):c.1307C>T (p.Pro436Leu)
NM_001846.4(COL4A2):c.1311C>G (p.Pro437=)
NM_001846.4(COL4A2):c.1311C>T (p.Pro437=)
NM_001846.4(COL4A2):c.1329T>C (p.Pro443=)
NM_001846.4(COL4A2):c.1339+65G>A rs73617587
NM_001846.4(COL4A2):c.1340-101T>G
NM_001846.4(COL4A2):c.1340-10G>C
NM_001846.4(COL4A2):c.1340-192G>C
NM_001846.4(COL4A2):c.1340-21_1340-20insGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGC rs759253067
NM_001846.4(COL4A2):c.1340-439G>A
NM_001846.4(COL4A2):c.1340-47C>T
NM_001846.4(COL4A2):c.1340-62_1340-21dup rs759253067
NM_001846.4(COL4A2):c.1432+7A>G rs1594082204
NM_001846.4(COL4A2):c.1433-13C>T
NM_001846.4(COL4A2):c.1433-18C>T rs1881884080
NM_001846.4(COL4A2):c.1438G>A (p.Ala480Thr)
NM_001846.4(COL4A2):c.1467C>T (p.Asp489=)
NM_001846.4(COL4A2):c.1485T>G (p.Leu495=)
NM_001846.4(COL4A2):c.1486C>T (p.Pro496Ser)
NM_001846.4(COL4A2):c.1527G>A (p.Gly509=)
NM_001846.4(COL4A2):c.1533G>A (p.Pro511=)
NM_001846.4(COL4A2):c.1545G>C (p.Gly515=) rs536150098
NM_001846.4(COL4A2):c.1597-4A>G
NM_001846.4(COL4A2):c.1597-6C>T
NM_001846.4(COL4A2):c.1623C>T (p.Pro541=)
NM_001846.4(COL4A2):c.165T>G (p.Pro55=)
NM_001846.4(COL4A2):c.1670-15C>T
NM_001846.4(COL4A2):c.1670-5T>C
NM_001846.4(COL4A2):c.1670-9C>A
NM_001846.4(COL4A2):c.1689C>T (p.Gly563=)
NM_001846.4(COL4A2):c.1690G>A (p.Val564Ile)
NM_001846.4(COL4A2):c.1725C>T (p.Gly575=)
NM_001846.4(COL4A2):c.1777-38A>C rs115124008
NM_001846.4(COL4A2):c.181-17C>A
NM_001846.4(COL4A2):c.181-85_181-83dup rs71127938
NM_001846.4(COL4A2):c.181-9T>C
NM_001846.4(COL4A2):c.1833G>A (p.Thr611=)
NM_001846.4(COL4A2):c.1878C>T (p.Pro626=)
NM_001846.4(COL4A2):c.1939C>T (p.Leu647=) rs748187379
NM_001846.4(COL4A2):c.1950T>A (p.Pro650=)
NM_001846.4(COL4A2):c.1956C>T (p.Pro652=)
NM_001846.4(COL4A2):c.1978+20T>C
NM_001846.4(COL4A2):c.1979-4C>G
NM_001846.4(COL4A2):c.2005G>A (p.Val669Ile)
NM_001846.4(COL4A2):c.2038+19G>A
NM_001846.4(COL4A2):c.2038+9G>A
NM_001846.4(COL4A2):c.2043C>T (p.Cys681=)
NM_001846.4(COL4A2):c.204C>G (p.Pro68=)
NM_001846.4(COL4A2):c.2051G>C (p.Gly684Ala)
NM_001846.4(COL4A2):c.2057A>G (p.Lys686Arg)
NM_001846.4(COL4A2):c.2079A>C (p.Gly693=) rs2139505382
NM_001846.4(COL4A2):c.207G>A (p.Gln69=)
NM_001846.4(COL4A2):c.2095+10G>A
NM_001846.4(COL4A2):c.2095+7C>T
NM_001846.4(COL4A2):c.2096-12T>G
NM_001846.4(COL4A2):c.2097T>C (p.Gly699=)
NM_001846.4(COL4A2):c.2133A>T (p.Gly711=)
NM_001846.4(COL4A2):c.2166A>C (p.Pro722=)
NM_001846.4(COL4A2):c.216T>C (p.Asn72=)
NM_001846.4(COL4A2):c.2204-305A>T rs9559817
NM_001846.4(COL4A2):c.2219G>A (p.Arg740Gln)
NM_001846.4(COL4A2):c.2265A>G (p.Pro755=)
NM_001846.4(COL4A2):c.2298C>T (p.Pro766=)
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln)
NM_001846.4(COL4A2):c.2357A>T (p.Asp786Val)
NM_001846.4(COL4A2):c.2376G>A (p.Gln792=)
NM_001846.4(COL4A2):c.2383C>T (p.Leu795Phe) rs1340849111
NM_001846.4(COL4A2):c.2391C>T (p.Gly797=)
NM_001846.4(COL4A2):c.2397C>T (p.Pro799=)
NM_001846.4(COL4A2):c.240C>T (p.Phe80=)
NM_001846.4(COL4A2):c.2412C>A (p.Pro804=)
NM_001846.4(COL4A2):c.2418A>T (p.Gly806=)
NM_001846.4(COL4A2):c.2425+14C>T
NM_001846.4(COL4A2):c.2425+8C>A
NM_001846.4(COL4A2):c.2426-13C>A
NM_001846.4(COL4A2):c.2426-16T>C
NM_001846.4(COL4A2):c.243G>A (p.Pro81=)
NM_001846.4(COL4A2):c.2487C>T (p.Ser829=)
NM_001846.4(COL4A2):c.2511T>A (p.Pro837=) rs2139519210
NM_001846.4(COL4A2):c.2514A>G (p.Pro838=)
NM_001846.4(COL4A2):c.2587+12G>A rs749670382
NM_001846.4(COL4A2):c.2587+13C>T
NM_001846.4(COL4A2):c.2587+19C>T
NM_001846.4(COL4A2):c.2588-12T>G
NM_001846.4(COL4A2):c.2588-266C>T rs77433282
NM_001846.4(COL4A2):c.2628T>C (p.Ala876=) rs1594099038
NM_001846.4(COL4A2):c.2640G>A (p.Val880=)
NM_001846.4(COL4A2):c.2661T>C (p.Gly887=) rs1277653915
NM_001846.4(COL4A2):c.2682C>T (p.Phe894=)
NM_001846.4(COL4A2):c.2709C>T (p.Ser903=)
NM_001846.4(COL4A2):c.2751G>A (p.Gly917=)
NM_001846.4(COL4A2):c.2758+20C>A
NM_001846.4(COL4A2):c.2759-12T>C
NM_001846.4(COL4A2):c.2759-20T>G
NM_001846.4(COL4A2):c.2759-74C>G rs78589207
NM_001846.4(COL4A2):c.2763T>C (p.Asp921=)
NM_001846.4(COL4A2):c.2814G>C (p.Gly938=)
NM_001846.4(COL4A2):c.2820C>T (p.Pro940=)
NM_001846.4(COL4A2):c.2832G>A (p.Gly944=)
NM_001846.4(COL4A2):c.2844G>A (p.Glu948=)
NM_001846.4(COL4A2):c.288C>T (p.Pro96=)
NM_001846.4(COL4A2):c.2903-19G>A
NM_001846.4(COL4A2):c.3013C>G (p.Leu1005Val)
NM_001846.4(COL4A2):c.3025+10C>A
NM_001846.4(COL4A2):c.3025+8T>C
NM_001846.4(COL4A2):c.3026-19C>T
NM_001846.4(COL4A2):c.302C>A (p.Pro101His)
NM_001846.4(COL4A2):c.3087C>G (p.Pro1029=) rs201630262
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=) rs201630262
NM_001846.4(COL4A2):c.3162T>C (p.Ala1054=)
NM_001846.4(COL4A2):c.3169C>A (p.Pro1057Thr)
NM_001846.4(COL4A2):c.3169C>G (p.Pro1057Ala) rs201763437
NM_001846.4(COL4A2):c.3207+16T>C
NM_001846.4(COL4A2):c.3207+207C>T rs565491533
NM_001846.4(COL4A2):c.3207+9del
NM_001846.4(COL4A2):c.3208-11T>C
NM_001846.4(COL4A2):c.321A>G (p.Ala107=)
NM_001846.4(COL4A2):c.3237C>A (p.Gly1079=) rs770333998
NM_001846.4(COL4A2):c.3258G>T (p.Ala1086=) rs267603756
NM_001846.4(COL4A2):c.3270C>T (p.Phe1090=)
NM_001846.4(COL4A2):c.3271+13C>T
NM_001846.4(COL4A2):c.3272-10C>T
NM_001846.4(COL4A2):c.3272-8T>C
NM_001846.4(COL4A2):c.3305G>T (p.Arg1102Ile)
NM_001846.4(COL4A2):c.3306A>G (p.Arg1102=)
NM_001846.4(COL4A2):c.3333C>T (p.Thr1111=)
NM_001846.4(COL4A2):c.3346+18C>A
NM_001846.4(COL4A2):c.3346+9G>A
NM_001846.4(COL4A2):c.3347-13T>C rs2139536118
NM_001846.4(COL4A2):c.3378A>G (p.Thr1126=)
NM_001846.4(COL4A2):c.3412G>A (p.Val1138Met)
NM_001846.4(COL4A2):c.3454+12C>T
NM_001846.4(COL4A2):c.3454+16G>A
NM_001846.4(COL4A2):c.3455-17G>A
NM_001846.4(COL4A2):c.3455-6C>T
NM_001846.4(COL4A2):c.3474G>C (p.Gly1158=)
NM_001846.4(COL4A2):c.3486G>A (p.Ser1162=)
NM_001846.4(COL4A2):c.348C>T (p.Ala116=)
NM_001846.4(COL4A2):c.3512T>A (p.Leu1171Gln)
NM_001846.4(COL4A2):c.3534T>C (p.Asp1178=)
NM_001846.4(COL4A2):c.3543G>A (p.Pro1181=)
NM_001846.4(COL4A2):c.3563-102_3563-39del rs1566565602
NM_001846.4(COL4A2):c.3563-20G>A
NM_001846.4(COL4A2):c.3563-32_3564del rs1445782575
NM_001846.4(COL4A2):c.3563-4G>C rs562701263
NM_001846.4(COL4A2):c.3563-5C>T
NM_001846.4(COL4A2):c.3570G>A (p.Pro1190=)
NM_001846.4(COL4A2):c.3594A>G (p.Leu1198=)
NM_001846.4(COL4A2):c.360+17A>C
NM_001846.4(COL4A2):c.3648C>T (p.His1216=)
NM_001846.4(COL4A2):c.3684A>G (p.Arg1228=)
NM_001846.4(COL4A2):c.3699G>A (p.Glu1233=)
NM_001846.4(COL4A2):c.369G>A (p.Pro123=)
NM_001846.4(COL4A2):c.3760+9A>C
NM_001846.4(COL4A2):c.3761-8A>G
NM_001846.4(COL4A2):c.3761-8A>T
NM_001846.4(COL4A2):c.3786A>G (p.Pro1262=)
NM_001846.4(COL4A2):c.3793C>A (p.Gln1265Lys)
NM_001846.4(COL4A2):c.3798G>T (p.Gly1266=)
NM_001846.4(COL4A2):c.3855G>A (p.Ala1285=)
NM_001846.4(COL4A2):c.3873G>A (p.Leu1291=)
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.398G>T (p.Gly133Val)
NM_001846.4(COL4A2):c.39A>G (p.Leu13=)
NM_001846.4(COL4A2):c.402C>T (p.Tyr134=)
NM_001846.4(COL4A2):c.4040-18G>A
NM_001846.4(COL4A2):c.4095C>T (p.Gly1365=)
NM_001846.4(COL4A2):c.4138+10C>T
NM_001846.4(COL4A2):c.4139-155G>A rs146514580
NM_001846.4(COL4A2):c.4139-20C>A
NM_001846.4(COL4A2):c.4149G>T (p.Gly1383=)
NM_001846.4(COL4A2):c.414C>T (p.Asn138=)
NM_001846.4(COL4A2):c.4176A>G (p.Gly1392=)
NM_001846.4(COL4A2):c.4233C>T (p.Gly1411=)
NM_001846.4(COL4A2):c.4236C>G (p.Pro1412=)
NM_001846.4(COL4A2):c.4248G>A (p.Pro1416=)
NM_001846.4(COL4A2):c.4255_4256delinsGC (p.Met1419Ala) rs1594114117
NM_001846.4(COL4A2):c.4269C>T (p.Gly1423=)
NM_001846.4(COL4A2):c.4275C>A (p.Pro1425=) rs529617799
NM_001846.4(COL4A2):c.4286-11G>T
NM_001846.4(COL4A2):c.4286-20G>A
NM_001846.4(COL4A2):c.432A>G (p.Ser144=) rs1594208742
NM_001846.4(COL4A2):c.4383G>A (p.Gln1461=)
NM_001846.4(COL4A2):c.4383G>T (p.Gln1461His)
NM_001846.4(COL4A2):c.44+10T>A rs756398337
NM_001846.4(COL4A2):c.44+10T>C
NM_001846.4(COL4A2):c.44+15G>T
NM_001846.4(COL4A2):c.4402+18_4402+43del
NM_001846.4(COL4A2):c.4403-157CT[9] rs10558706
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
NM_001846.4(COL4A2):c.4455C>T (p.Ser1485=)
NM_001846.4(COL4A2):c.4461C>T (p.Ser1487=)
NM_001846.4(COL4A2):c.4470C>T (p.Tyr1490=)
NM_001846.4(COL4A2):c.45-17C>T rs2139334431
NM_001846.4(COL4A2):c.45-8C>T
NM_001846.4(COL4A2):c.4512C>T (p.Cys1504=)
NM_001846.4(COL4A2):c.4594+18G>A
NM_001846.4(COL4A2):c.4595-15C>T
NM_001846.4(COL4A2):c.4595-6C>G
NM_001846.4(COL4A2):c.4614G>A (p.Leu1538=)
NM_001846.4(COL4A2):c.4616C>T (p.Ala1539Val)
NM_001846.4(COL4A2):c.4653T>C (p.Pro1551=)
NM_001846.4(COL4A2):c.4713G>A (p.Ala1571=)
NM_001846.4(COL4A2):c.4743C>T (p.Asp1581=)
NM_001846.4(COL4A2):c.4749C>A (p.Ile1583=)
NM_001846.4(COL4A2):c.4754C>G (p.Pro1585Arg)
NM_001846.4(COL4A2):c.4755C>G (p.Pro1585=)
NM_001846.4(COL4A2):c.477C>T (p.Pro159=)
NM_001846.4(COL4A2):c.4800C>T (p.Ile1600=)
NM_001846.4(COL4A2):c.4803G>A (p.Ala1601=)
NM_001846.4(COL4A2):c.4842T>A (p.Ala1614=)
NM_001846.4(COL4A2):c.4878C>T (p.Leu1626=)
NM_001846.4(COL4A2):c.4881+18A>G
NM_001846.4(COL4A2):c.4882-12C>T
NM_001846.4(COL4A2):c.4882-6G>C rs1884094603
NM_001846.4(COL4A2):c.4893G>A (p.Ala1631=)
NM_001846.4(COL4A2):c.4899C>T (p.Asp1633=)
NM_001846.4(COL4A2):c.4968C>T (p.Ile1656=) rs148666408
NM_001846.4(COL4A2):c.4976A>G (p.Asn1659Ser)
NM_001846.4(COL4A2):c.4977T>C (p.Asn1659=)
NM_001846.4(COL4A2):c.4980A>G (p.Gly1660=)
NM_001846.4(COL4A2):c.4989C>T (p.Gly1663=)
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val) rs200430407
NM_001846.4(COL4A2):c.5004C>T (p.Tyr1668=)
NM_001846.4(COL4A2):c.5040C>T (p.Pro1680=)
NM_001846.4(COL4A2):c.5103C>T (p.His1701=) rs772344537
NM_001846.4(COL4A2):c.537C>T (p.Arg179=)
NM_001846.4(COL4A2):c.549+124C>T rs143043262
NM_001846.4(COL4A2):c.550-6C>T
NM_001846.4(COL4A2):c.55C>T (p.Leu19=)
NM_001846.4(COL4A2):c.567T>C (p.Pro189=)
NM_001846.4(COL4A2):c.571T>C (p.Leu191=)
NM_001846.4(COL4A2):c.573G>A (p.Leu191=)
NM_001846.4(COL4A2):c.579T>C (p.Gly193=)
NM_001846.4(COL4A2):c.586-16C>T
NM_001846.4(COL4A2):c.597C>T (p.Gly199=)
NM_001846.4(COL4A2):c.60G>T (p.Gly20=)
NM_001846.4(COL4A2):c.649-12G>A
NM_001846.4(COL4A2):c.685-160A>T rs74639154
NM_001846.4(COL4A2):c.6G>T (p.Gly2=)
NM_001846.4(COL4A2):c.750C>T (p.Pro250=)
NM_001846.4(COL4A2):c.786C>T (p.Ile262=)
NM_001846.4(COL4A2):c.825+14T>C
NM_001846.4(COL4A2):c.826-13A>G
NM_001846.4(COL4A2):c.826-9T>G
NM_001846.4(COL4A2):c.861+14T>C
NM_001846.4(COL4A2):c.861+17G>A
NM_001846.4(COL4A2):c.861+8G>T
NM_001846.4(COL4A2):c.862-41G>T rs7984100
NM_001846.4(COL4A2):c.912+10G>A
NM_001846.4(COL4A2):c.912+141_912+142insA rs1566533543
NM_001846.4(COL4A2):c.912+142_912+143insTCCACA rs1555328887
NM_001846.4(COL4A2):c.912+143_912+144insCCAC
NM_001846.4(COL4A2):c.912+143dup rs1197981980
NM_001846.4(COL4A2):c.912+18T>C
NM_001846.4(COL4A2):c.921T>C (p.Pro307=)
NM_001846.4(COL4A2):c.940G>C (p.Gly314Arg)
NM_001846.4(COL4A2):c.957+14A>G
NM_001846.4(COL4A2):c.957+16G>A
NM_001846.4(COL4A2):c.957+262T>G rs186133116
NM_001846.4(COL4A2):c.958-12T>C
NM_001846.4(COL4A2):c.958-15A>G
NM_001846.4(COL4A2):c.969C>A (p.Gly323=)
NM_001846.4(COL4A2):c.99+19G>T

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