ClinVar Miner

List of variants in gene COL4A2 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1389
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.3878-40C>T rs401316 1.00000
NM_001846.4(COL4A2):c.2903-85T>C rs1983930 0.99728
NM_001846.4(COL4A2):c.1011+109A>T rs7988186 0.98891
NM_001846.4(COL4A2):c.4083T>C (p.Thr1361=) rs438758 0.98496
NM_001846.4(COL4A2):c.2038+171G>A rs1927352 0.96078
NM_001846.4(COL4A2):c.3761-81G>A rs378601 0.95332
NM_001846.4(COL4A2):c.3877+246G>A rs364488 0.95332
NM_001846.4(COL4A2):c.4402+162A>G rs4771684 0.95309
NM_001846.4(COL4A2):c.3807T>C (p.Gly1269=) rs409858 0.94356
NM_001846.4(COL4A2):c.3804T>A (p.Pro1268=) rs439831 0.94355
NM_001846.4(COL4A2):c.3761-185C>G rs7993094 0.94196
NM_001846.4(COL4A2):c.3878-105G>A rs406174 0.94138
NM_001846.4(COL4A2):c.4290C>T (p.Phe1430=) rs4771683 0.94122
NM_001846.4(COL4A2):c.297G>A (p.Thr99=) rs4238272 0.93420
NM_001846.4(COL4A2):c.*417C>G rs10509 0.87295
NM_001846.4(COL4A2):c.360+106G>A rs7326522 0.86157
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=) rs445348 0.84408
NM_001846.4(COL4A2):c.958-66C>T rs7489705 0.83723
NM_001846.4(COL4A2):c.2588-77A>G rs4773194 0.81247
NM_001846.4(COL4A2):c.2587+88G>C rs9301457 0.80937
NM_001846.4(COL4A2):c.1596+174T>C rs4773187 0.75595
NM_001846.4(COL4A2):c.1596+101G>A rs4773186 0.75504
NM_001846.4(COL4A2):c.180+179A>G rs2094701 0.74833
NM_001846.4(COL4A2):c.1012-88G>A rs45612833 0.74803
NM_001846.4(COL4A2):c.1012-23G>A rs7326449 0.74513
NM_001846.4(COL4A2):c.912+216A>G rs9521760 0.72414
NM_001846.4(COL4A2):c.3454+68T>C rs413756 0.70298
NM_001846.4(COL4A2):c.2758+83G>A rs1475438 0.67886
NM_001846.4(COL4A2):c.2902+245G>C rs9583505 0.67528
NM_001846.4(COL4A2):c.2902+244G>T rs9583504 0.67523
NM_001846.4(COL4A2):c.3634+214G>C rs4426225 0.67331
NM_001846.4(COL4A2):c.2096-81A>G rs9559814 0.61016
NM_001846.4(COL4A2):c.2203+46A>G rs9515229 0.60996
NM_001846.4(COL4A2):c.2039-91A>G rs3803232 0.60509
NM_001846.4(COL4A2):c.2038+137T>G rs1927350 0.60507
NM_001846.4(COL4A2):c.2038+206A>T rs1927353 0.60504
NM_001846.4(COL4A2):c.2095+211T>C rs9521790 0.60359
NM_001846.4(COL4A2):c.2095+177C>T rs9521789 0.60357
NM_001846.4(COL4A2):c.2039-310A>G rs3803234 0.60275
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys) rs7990383 0.59592
NM_001846.4(COL4A2):c.1777-184A>G rs3803238 0.59073
NM_001846.4(COL4A2):c.1979-129T>C rs1983932 0.58849
NM_001846.4(COL4A2):c.1777-7C>T rs3803236 0.58770
NM_001846.4(COL4A2):c.1776+232G>T rs7992707 0.58641
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=) rs7990214 0.58092
NM_001846.4(COL4A2):c.1432+77A>G rs9515218 0.58031
NM_001846.4(COL4A2):c.1433-95T>C rs9521781 0.57930
NM_001846.4(COL4A2):c.1432+178T>C rs9515219 0.57894
NM_001846.4(COL4A2):c.1433-75G>A rs9521782 0.57806
NM_001846.4(COL4A2):c.4882-83T>C rs2479426 0.57506
NM_001846.4(COL4A2):c.1978+149G>A rs1983931 0.57500
NM_001846.4(COL4A2):c.4882-179T>C rs3742186 0.56882
NM_001846.4(COL4A2):c.4138+183A>C rs422514 0.56540
NM_001846.4(COL4A2):c.3877+29G>A rs2281968 0.56117
NM_001846.4(COL4A2):c.*76T>C rs422733 0.55467
NM_001846.4(COL4A2):c.912+142C>A rs9521759 0.55002
NM_001846.4(COL4A2):c.100-176G>A rs12876517 0.52160
NM_001846.4(COL4A2):c.478-174T>C rs4512966 0.51042
NM_001846.4(COL4A2):c.2039-241A>T rs3803233 0.49363
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=) rs4103 0.48817
NM_001846.4(COL4A2):c.2425+109A>G rs11617206 0.47348
NM_001846.4(COL4A2):c.1189+47A>G rs34734302 0.46719
NM_001846.4(COL4A2):c.4285+71G>A rs414881 0.44256
NM_001846.4(COL4A2):c.*663T>C rs7711 0.44193
NM_001846.4(COL4A2):c.1079-274A>T rs7996798 0.42989
NM_001846.4(COL4A2):c.*541C>T rs1049906 0.42528
NM_001846.4(COL4A2):c.2426-124G>A rs9559818 0.42418
NM_001846.4(COL4A2):c.99+215T>C rs4773143 0.42416
NM_001846.4(COL4A2):c.3026-96G>A rs9521806 0.41006
NM_001846.4(COL4A2):c.*557A>G rs1049931 0.40859
NM_001846.4(COL4A2):c.*650T>C rs1049977 0.40601
NM_001846.4(COL4A2):c.4139-173C>T rs4773200 0.40310
NM_001846.4(COL4A2):c.2587+8C>T rs2281974 0.38939
NM_001846.4(COL4A2):c.4139-41G>A rs9301460 0.38801
NM_001846.4(COL4A2):c.3877+28C>T rs388222 0.38035
NM_001846.4(COL4A2):c.3878-197T>C rs7338575 0.37832
NM_001846.4(COL4A2):c.4040-19C>T rs4773198 0.37621
NM_001846.4(COL4A2):c.862-111A>G rs7983487 0.37199
NM_001846.4(COL4A2):c.862-236C>T rs7983449 0.36210
NM_001846.4(COL4A2):c.862-56T>C rs7984937 0.36182
NM_001846.4(COL4A2):c.913-141T>G rs7991229 0.35305
NM_001846.4(COL4A2):c.360+172A>G rs34011931 0.34017
NM_001846.4(COL4A2):c.2587+163C>T rs2281973 0.31690
NM_001846.4(COL4A2):c.3634+292T>C rs2391834 0.31603
NM_001846.4(COL4A2):c.2587+233C>T rs2281972 0.30973
NM_001846.4(COL4A2):c.1190-157A>C rs9555700 0.30631
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=) rs74941798 0.30311
NM_001846.4(COL4A2):c.361-205G>A rs7334986 0.28871
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=) rs76425569 0.28294
NM_001846.4(COL4A2):c.1079-95C>T rs56676181 0.28257
NM_001846.4(COL4A2):c.3454+299A>G rs447049 0.28082
NM_001846.4(COL4A2):c.1340-72G>C rs9515216 0.28065
NM_001846.4(COL4A2):c.2759-83G>A rs3803229 0.27591
NM_001846.4(COL4A2):c.1079-74A>G rs75082326 0.27544
NM_001846.4(COL4A2):c.3026-111A>G rs11619327 0.27000
NM_001846.4(COL4A2):c.181-27458T>C rs9515203 0.26315
NM_001846.4(COL4A2):c.1340-229A>G rs9515215 0.25918
NM_001846.4(COL4A2):c.1597-285C>A rs56003851 0.25656
NM_001846.4(COL4A2):c.2588-11C>T rs9521803 0.25564
NM_001846.4(COL4A2):c.685-242G>A rs9521757 0.24675
NM_001846.4(COL4A2):c.1433-302C>A rs79349439 0.23612
NM_001846.4(COL4A2):c.2152C>T (p.Pro718Ser) rs9583500 0.23344
NM_001846.4(COL4A2):c.4089G>A (p.Ala1363=) rs4773199 0.23132
NM_001846.4(COL4A2):c.1776+20G>A rs7992330 0.22880
NM_001846.4(COL4A2):c.1432+100A>G rs9555703 0.22869
NM_001846.4(COL4A2):c.4139-147C>G rs9284254 0.22333
NM_001846.4(COL4A2):c.1596+216G>A rs7995236 0.22185
NM_001846.4(COL4A2):c.3878-238G>T rs12873113 0.21925
NM_001846.4(COL4A2):c.3563-248A>C rs2274545 0.21514
NM_001846.4(COL4A2):c.2203+202C>T rs9583501 0.21449
NM_001846.4(COL4A2):c.2758+210G>A rs58124222 0.20405
NM_001846.4(COL4A2):c.1669+21G>A rs41275110 0.19772
NM_001846.4(COL4A2):c.2203+310T>C rs56399312 0.19540
NM_001846.4(COL4A2):c.1777-84G>A rs3803237 0.19405
NM_001846.4(COL4A2):c.958-159T>C rs4771680 0.18952
NM_001846.4(COL4A2):c.2759-5T>C rs3803228 0.18857
NM_001846.4(COL4A2):c.3562+41C>T rs421177 0.17666
NM_001846.4(COL4A2):c.3454+164G>C rs402661 0.17238
NM_001846.4(COL4A2):c.3208-253T>C rs370498 0.14882
NM_001846.4(COL4A2):c.3208-235A>T rs439371 0.14878
NM_001846.4(COL4A2):c.1339+64G>A rs72657934 0.14515
NM_001846.4(COL4A2):c.3346+95A>T rs749077 0.14459
NM_001846.4(COL4A2):c.3272-42G>A rs368115 0.14427
NM_001846.4(COL4A2):c.3272-49A>C rs409345 0.14426
NM_001846.4(COL4A2):c.2903-12A>G rs2296853 0.13866
NM_001846.4(COL4A2):c.3207+72G>A rs2296851 0.13691
NM_001846.4(COL4A2):c.2588-154C>T rs72657977 0.12507
NM_001846.4(COL4A2):c.3026-246A>G rs11842353 0.12493
NM_001846.4(COL4A2):c.3025+91G>A rs2296852 0.12435
NM_001846.4(COL4A2):c.3025+114G>A rs11839527 0.12411
NM_001846.4(COL4A2):c.2204-342G>A rs72657969 0.11661
NM_001846.4(COL4A2):c.3455-96G>A rs403839 0.11568
NM_001846.4(COL4A2):c.3635-245A>G rs9559827 0.11125
NM_001846.4(COL4A2):c.4882-189del rs3832896 0.10787
NM_001846.4(COL4A2):c.3760+32G>A rs912946 0.10566
NM_001846.4(COL4A2):c.3347-340G>C rs11839503 0.10562
NM_001846.4(COL4A2):c.2039-45T>C rs3803231 0.10400
NM_001846.4(COL4A2):c.1190-239T>C rs35926204 0.10395
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala) rs3803230 0.10158
NM_001846.4(COL4A2):c.3634+150C>T rs9559826 0.10046
NM_001846.4(COL4A2):c.4403-148T>C rs55886338 0.09898
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=) rs391859 0.09357
NM_001846.4(COL4A2):c.685-177T>C rs74124328 0.08934
NM_001846.4(COL4A2):c.1012-100C>G rs59905747 0.08822
NM_001846.4(COL4A2):c.1978+120C>T rs72657953 0.08347
NM_001846.4(COL4A2):c.912+9C>T rs7983979 0.08329
NM_001846.4(COL4A2):c.1012-269C>A rs9670663 0.08278
NM_001846.4(COL4A2):c.685-98G>A rs60212072 0.08274
NM_001846.4(COL4A2):c.825+195G>A rs57873561 0.08234
NM_001846.4(COL4A2):c.2203+176T>C rs9515230 0.08138
NM_001846.4(COL4A2):c.1340-114G>C rs9521780 0.07887
NM_001846.4(COL4A2):c.912+282G>A rs61963238 0.07815
NM_001846.4(COL4A2):c.2425+250C>A rs9588179 0.07376
NM_001846.4(COL4A2):c.1978+31C>T rs3825490 0.07252
NM_001846.4(COL4A2):c.3634+4C>T rs2274544 0.07052
NM_001846.4(COL4A2):c.-44-163G>C rs7327528 0.06337
NM_001846.4(COL4A2):c.3455-5C>G rs2296849 0.05942
NM_001846.4(COL4A2):c.3272-20G>A rs41275118 0.05260
NM_001846.4(COL4A2):c.3026-27G>T rs41315048 0.05198
NM_001846.4(COL4A2):c.2758+209T>G rs112600042 0.05181
NM_001846.4(COL4A2):c.-44-43C>T rs76536922 0.05109
NM_001846.4(COL4A2):c.913-223C>A rs75012128 0.05097
NM_001846.4(COL4A2):c.2425+79G>A rs9588178 0.04958
NM_001846.4(COL4A2):c.2903-135G>A rs116320888 0.04012
NM_001846.4(COL4A2):c.1776+282A>G rs9588174 0.03823
NM_001846.4(COL4A2):c.727-160A>T rs41275108 0.03698
NM_001846.4(COL4A2):c.549+15G>C rs74124318 0.03560
NM_001846.4(COL4A2):c.3026-39G>A rs58934080 0.03288
NM_001846.4(COL4A2):c.684+139T>A rs74124323 0.03118
NM_001846.4(COL4A2):c.684+196G>T rs74124324 0.03113
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.648+28C>T rs74124320 0.02992
NM_001846.4(COL4A2):c.3562+45G>A rs116959550 0.02945
NM_001846.4(COL4A2):c.649-265T>C rs76566615 0.02923
NM_001846.4(COL4A2):c.3760+278C>T rs2296847 0.02834
NM_001846.4(COL4A2):c.1078+150C>T rs74124349 0.02817
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.1189+127T>C rs74375323 0.02628
NM_001846.4(COL4A2):c.4595-40G>C rs73618169 0.02487
NM_001846.4(COL4A2):c.2588-45G>A rs74124618 0.02486
NM_001846.4(COL4A2):c.3026-108G>C rs182604363 0.02479
NM_001846.4(COL4A2):c.2039-95G>A rs115480301 0.02253
NM_001846.4(COL4A2):c.3347-219G>T rs7985245 0.02253
NM_001846.4(COL4A2):c.912+259G>A rs61494971 0.02199
NM_001846.4(COL4A2):c.649-320G>A rs73617522 0.02180
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_001846.4(COL4A2):c.3026-183G>A rs111594847 0.02125
NM_001846.4(COL4A2):c.3635-195del rs151002988 0.02030
NM_001846.4(COL4A2):c.2588-173C>T rs79316960 0.02013
NM_001846.4(COL4A2):c.181-63G>A rs115817425 0.01905
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.1432+238C>T rs9588172 0.01816
NM_001846.4(COL4A2):c.45-44C>T rs74124101 0.01793
NM_001846.4(COL4A2):c.3563-173G>A rs114638806 0.01788
NM_001846.4(COL4A2):c.3760+70G>T rs76809453 0.01732
NM_001846.4(COL4A2):c.1433-53G>A rs139758202 0.01647
NM_001846.4(COL4A2):c.1433-285G>A rs114006782 0.01646
NM_001846.4(COL4A2):c.1596+33A>G rs116748811 0.01641
NM_001846.4(COL4A2):c.1432+279C>T rs78525615 0.01639
NM_001846.4(COL4A2):c.3761-270G>A rs61970343 0.01630
NM_001846.4(COL4A2):c.2038+41C>T rs41275112 0.01628
NM_001846.4(COL4A2):c.360+60T>G rs568065959 0.01615
NM_001846.4(COL4A2):c.315+30T>C rs115760431 0.01583
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.3878-309G>A rs74679761 0.01438
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.1340-281G>C rs28588005 0.00889
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.2102A>G (p.Lys701Arg) rs78829338 0.00822
NM_001846.4(COL4A2):c.1308C>T (p.Pro436=) rs78615289 0.00806
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.4882-7T>C rs116548600 0.00448
NM_001846.4(COL4A2):c.4882-15C>T rs114427900 0.00447
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.4776G>T (p.Val1592=) rs59395531 0.00387
NM_001846.4(COL4A2):c.3326G>A (p.Arg1109Gln) rs184812559 0.00356
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.1669+5G>C rs147210424 0.00252
NM_001846.4(COL4A2):c.2011G>A (p.Gly671Ser) rs143710874 0.00230
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.576C>T (p.Val192=) rs190117538 0.00175
NM_001846.4(COL4A2):c.4400A>C (p.Glu1467Ala) rs202207552 0.00172
NM_001846.4(COL4A2):c.3871C>T (p.Leu1291=) rs140883685 0.00163
NM_001846.4(COL4A2):c.1189+19A>G rs368321322 0.00161
NM_001846.4(COL4A2):c.1948C>T (p.Pro650Ser) rs200735885 0.00161
NM_001846.4(COL4A2):c.3454+13G>A rs200830236 0.00155
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.3025+17G>A rs185903591 0.00145
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.2244C>T (p.Leu748=) rs375548321 0.00125
NM_001846.4(COL4A2):c.3042A>C (p.Pro1014=) rs200384476 0.00120
NM_001846.4(COL4A2):c.181-18C>A rs200140203 0.00099
NM_001846.4(COL4A2):c.3396C>T (p.Phe1132=) rs201762977 0.00095
NM_001846.4(COL4A2):c.2004C>T (p.Ala668=) rs148709279 0.00091
NM_001846.4(COL4A2):c.315+4C>T rs145900757 0.00091
NM_001846.4(COL4A2):c.4146C>T (p.Pro1382=) rs372424 0.00089
NM_001846.4(COL4A2):c.4737C>T (p.Ala1579=) rs201956616 0.00088
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.4256T>C (p.Met1419Thr) rs191708663 0.00059
NM_001846.4(COL4A2):c.2172C>T (p.Asp724=) rs375427719 0.00046
NM_001846.4(COL4A2):c.3478C>T (p.Pro1160Ser) rs200189899 0.00044
NM_001846.4(COL4A2):c.1328C>G (p.Pro443Arg) rs192250572 0.00043
NM_001846.4(COL4A2):c.181-16T>C rs370926553 0.00043
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_001846.4(COL4A2):c.1412G>A (p.Arg471His) rs372173405 0.00042
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.3126C>T (p.Pro1042=) rs367815675 0.00034
NM_001846.4(COL4A2):c.4255A>G (p.Met1419Val) rs531809013 0.00032
NM_001846.4(COL4A2):c.4716G>A (p.Pro1572=) rs201510187 0.00032
NM_001846.4(COL4A2):c.2039-3C>T rs202208839 0.00029
NM_001846.4(COL4A2):c.99+4A>G rs200428476 0.00029
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.4464C>T (p.Ile1488=) rs149928079 0.00020
NM_001846.4(COL4A2):c.669A>G (p.Gly223=) rs192660147 0.00020
NM_001846.4(COL4A2):c.2865C>T (p.Pro955=) rs746902322 0.00017
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.4096G>A (p.Asp1366Asn) rs558814304 0.00013
NM_001846.4(COL4A2):c.3346+5G>A rs373295648 0.00012
NM_001846.4(COL4A2):c.3503G>A (p.Arg1168Gln) rs369072485 0.00012
NM_001846.4(COL4A2):c.4985G>A (p.Arg1662His) rs200192119 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.1978+4T>C rs372577230 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.684+8G>A rs200682990 0.00011
NM_001846.4(COL4A2):c.783C>A (p.Ile261=) rs369814411 0.00011
NM_001846.4(COL4A2):c.445C>G (p.Pro149Ala) rs548601003 0.00010
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.3877+15T>C rs776257940 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.3856C>T (p.Pro1286Ser) rs75571926 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.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.4673C>T (p.Ala1558Val) rs374790851 0.00007
NM_001846.4(COL4A2):c.1395C>T (p.Pro465=) rs201543646 0.00006
NM_001846.4(COL4A2):c.1465G>A (p.Asp489Asn) rs777186602 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.2331G>A (p.Leu777=) rs369620826 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.4712C>T (p.Ala1571Val) rs201300563 0.00006
NM_001846.4(COL4A2):c.648+13A>G rs375316442 0.00006
NM_001846.4(COL4A2):c.708C>T (p.Tyr236=) rs775257372 0.00006
NM_001846.4(COL4A2):c.965G>A (p.Arg322Gln) rs201640075 0.00006
NM_001846.4(COL4A2):c.1190-17A>C rs372633566 0.00005
NM_001846.4(COL4A2):c.1324C>T (p.Pro442Ser) rs764002137 0.00005
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.2477C>G (p.Pro826Arg) rs1020176452 0.00005
NM_001846.4(COL4A2):c.2587+5G>C rs756405925 0.00005
NM_001846.4(COL4A2):c.290G>A (p.Gly97Glu) rs749501904 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.1500A>T (p.Gly500=) rs144654464 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.1720G>A (p.Asp574Asn) rs751105211 0.00004
NM_001846.4(COL4A2):c.1758C>T (p.Pro586=) rs765662785 0.00004
NM_001846.4(COL4A2):c.1790A>G (p.Lys597Arg) rs201676472 0.00004
NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val) rs761867026 0.00004
NM_001846.4(COL4A2):c.2395C>T (p.Pro799Ser) rs376694121 0.00004
NM_001846.4(COL4A2):c.2553G>T (p.Gly851=) rs764978267 0.00004
NM_001846.4(COL4A2):c.2581C>T (p.Arg861Cys) rs751658527 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.4247C>T (p.Pro1416Leu) rs776279146 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.99+16C>T rs200523295 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.1596+8G>C rs147871111 0.00003
NM_001846.4(COL4A2):c.164C>T (p.Pro55Leu) rs1011806709 0.00003
NM_001846.4(COL4A2):c.2343C>T (p.Pro781=) rs767050469 0.00003
NM_001846.4(COL4A2):c.2444G>C (p.Gly815Ala) rs780116763 0.00003
NM_001846.4(COL4A2):c.2530C>T (p.Pro844Ser) rs763705148 0.00003
NM_001846.4(COL4A2):c.3297A>C (p.Leu1099Phe) rs779464248 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.4623C>G (p.Phe1541Leu) rs201158095 0.00003
NM_001846.4(COL4A2):c.4678C>T (p.Arg1560Trp) rs1353098387 0.00003
NM_001846.4(COL4A2):c.4953C>T (p.Arg1651=) rs773440120 0.00003
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser) rs373806617 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.-44-1G>C rs373395207 0.00002
NM_001846.4(COL4A2):c.1108G>C (p.Ala370Pro) rs909040713 0.00002
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=) rs781075845 0.00002
NM_001846.4(COL4A2):c.1911C>T (p.Asp637=) rs764883197 0.00002
NM_001846.4(COL4A2):c.1914C>T (p.Ala638=) rs779939063 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.2095+9C>T rs369918222 0.00002
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg) rs768662646 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.360+1G>A rs759305120 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.4268G>C (p.Gly1423Ala) rs759437629 0.00002
NM_001846.4(COL4A2):c.4347C>T (p.Pro1449=) rs375772742 0.00002
NM_001846.4(COL4A2):c.4403-8G>A rs1271522986 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.4951C>T (p.Arg1651Cys) rs569071842 0.00002
NM_001846.4(COL4A2):c.5066C>T (p.Ser1689Phe) rs761162868 0.00002
NM_001846.4(COL4A2):c.5075C>T (p.Thr1692Met) rs759315132 0.00002
NM_001846.4(COL4A2):c.599G>A (p.Arg200His) rs748422794 0.00002
NM_001846.4(COL4A2):c.733G>A (p.Val245Ile) rs371879428 0.00002
NM_001846.4(COL4A2):c.861+7C>T rs745988427 0.00002
NM_001846.4(COL4A2):c.1012-1G>A rs1224451609 0.00001
NM_001846.4(COL4A2):c.1094C>T (p.Pro365Leu) rs746749693 0.00001
NM_001846.4(COL4A2):c.1135G>A (p.Glu379Lys) rs1178832851 0.00001
NM_001846.4(COL4A2):c.1199G>C (p.Arg400Thr) rs746145513 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.1339+14A>G rs368543918 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.1597-1G>A rs745376502 0.00001
NM_001846.4(COL4A2):c.1704C>T (p.Pro568=) rs757638360 0.00001
NM_001846.4(COL4A2):c.1738G>A (p.Asp580Asn) rs766981913 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001846.4(COL4A2):c.1879G>A (p.Gly627Ser) rs771559117 0.00001
NM_001846.4(COL4A2):c.1912G>A (p.Ala638Thr) rs758260445 0.00001
NM_001846.4(COL4A2):c.1979-2A>C rs772735682 0.00001
NM_001846.4(COL4A2):c.2095+5T>C rs376823280 0.00001
NM_001846.4(COL4A2):c.2176G>C (p.Gly726Arg) rs770946467 0.00001
NM_001846.4(COL4A2):c.2326G>C (p.Val776Leu) rs1882540552 0.00001
NM_001846.4(COL4A2):c.2546A>C (p.Gln849Pro) rs761477697 0.00001
NM_001846.4(COL4A2):c.2590C>T (p.Leu864=) rs903526900 0.00001
NM_001846.4(COL4A2):c.2698C>T (p.His900Tyr) rs367545580 0.00001
NM_001846.4(COL4A2):c.2705G>C (p.Gly902Ala) rs1388143812 0.00001
NM_001846.4(COL4A2):c.2781G>A (p.Met927Ile) rs765543373 0.00001
NM_001846.4(COL4A2):c.2864C>T (p.Pro955Leu) rs775430349 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.313G>A (p.Val105Met) rs772439696 0.00001
NM_001846.4(COL4A2):c.3205C>T (p.Arg1069Trp) rs200165414 0.00001
NM_001846.4(COL4A2):c.323G>C (p.Arg108Thr) rs1283852136 0.00001
NM_001846.4(COL4A2):c.3356G>T (p.Gly1119Val) rs1883275009 0.00001
NM_001846.4(COL4A2):c.3357A>C (p.Gly1119=) rs768749332 0.00001
NM_001846.4(COL4A2):c.3431C>T (p.Pro1144Leu) rs1407273074 0.00001
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser) rs1271683445 0.00001
NM_001846.4(COL4A2):c.361-11C>G rs532415822 0.00001
NM_001846.4(COL4A2):c.3689A>G (p.Asp1230Gly) rs1883424275 0.00001
NM_001846.4(COL4A2):c.3760+225C>T rs375545555 0.00001
NM_001846.4(COL4A2):c.3760+5G>A rs1883426997 0.00001
NM_001846.4(COL4A2):c.3817C>G (p.Pro1273Ala) rs201442362 0.00001
NM_001846.4(COL4A2):c.3818C>A (p.Pro1273His) rs928407150 0.00001
NM_001846.4(COL4A2):c.382C>T (p.Pro128Ser) rs975120661 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.4123G>A (p.Asp1375Asn) rs368612819 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001846.4(COL4A2):c.4165G>A (p.Gly1389Arg) rs1670170578 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.4679G>A (p.Arg1560Gln) rs1411209661 0.00001
NM_001846.4(COL4A2):c.468C>T (p.Thr156=) rs765157156 0.00001
NM_001846.4(COL4A2):c.4732G>A (p.Val1578Met) rs376052562 0.00001
NM_001846.4(COL4A2):c.4738G>A (p.Glu1580Lys) rs767665017 0.00001
NM_001846.4(COL4A2):c.4850G>A (p.Arg1617Gln) rs748967769 0.00001
NM_001846.4(COL4A2):c.4864G>A (p.Gly1622Arg) rs541766007 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.5018G>C (p.Ser1673Thr) rs754784235 0.00001
NM_001846.4(COL4A2):c.5076G>A (p.Thr1692=) rs376020578 0.00001
NM_001846.4(COL4A2):c.5110C>T (p.Arg1704Cys) rs780380833 0.00001
NM_001846.4(COL4A2):c.535C>T (p.Arg179Cys) rs751015466 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.610G>A (p.Val204Met) rs959464417 0.00001
NM_001846.4(COL4A2):c.664C>T (p.Pro222Ser) rs1311495152 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.827G>A (p.Gly276Asp) rs372917662 0.00001
NM_001846.4(COL4A2):c.82G>A (p.Ala28Thr) rs1338618226 0.00001
NM_001846.4(COL4A2):c.849A>C (p.Glu283Asp) rs1880961913 0.00001
NM_001846.4(COL4A2):c.99+7C>G rs1167797748 0.00001
GRCh37/hg19 13q34(chr13:111082232-111086789)x1
NC_000013.10:g.(?_111098156)_(111111301_?)del
NC_000013.10:g.(?_111134843)_(111135026_?)del
NM_001846.4(COL4A2):c.*101_*102del rs397838577
NM_001846.4(COL4A2):c.*727G>C rs15457
NM_001846.4(COL4A2):c.-44-140G>C rs143930805
NM_001846.4(COL4A2):c.100-11dup
NM_001846.4(COL4A2):c.100-6T>C
NM_001846.4(COL4A2):c.1001G>A (p.Arg334Gln)
NM_001846.4(COL4A2):c.1011+17T>C
NM_001846.4(COL4A2):c.1011+3G>A
NM_001846.4(COL4A2):c.1011+6C>T rs1881302554
NM_001846.4(COL4A2):c.1011+8C>T
NM_001846.4(COL4A2):c.1011+9G>A
NM_001846.4(COL4A2):c.1021G>A (p.Gly341Arg) rs1475888052
NM_001846.4(COL4A2):c.1029A>T (p.Pro343=)
NM_001846.4(COL4A2):c.103G>A (p.Val35Met)
NM_001846.4(COL4A2):c.1060C>T (p.His354Tyr)
NM_001846.4(COL4A2):c.1062C>G (p.His354Gln)
NM_001846.4(COL4A2):c.1078+10C>T
NM_001846.4(COL4A2):c.1078+135dup rs35275552
NM_001846.4(COL4A2):c.1078+16C>T
NM_001846.4(COL4A2):c.1079-12T>G
NM_001846.4(COL4A2):c.1079-18G>A
NM_001846.4(COL4A2):c.1079-3C>T
NM_001846.4(COL4A2):c.1091A>T (p.Asp364Val)
NM_001846.4(COL4A2):c.1092C>T (p.Asp364=)
NM_001846.4(COL4A2):c.1093C>G (p.Pro365Ala)
NM_001846.4(COL4A2):c.109A>C (p.Lys37Gln)
NM_001846.4(COL4A2):c.10G>A (p.Asp4Asn)
NM_001846.4(COL4A2):c.111G>A (p.Lys37=)
NM_001846.4(COL4A2):c.111G>C (p.Lys37Asn)
NM_001846.4(COL4A2):c.1148C>T (p.Pro383Leu)
NM_001846.4(COL4A2):c.1149G>A (p.Pro383=)
NM_001846.4(COL4A2):c.1158A>G (p.Pro386=)
NM_001846.4(COL4A2):c.1159G>T (p.Gly387Cys)
NM_001846.4(COL4A2):c.1162C>A (p.Pro388Thr)
NM_001846.4(COL4A2):c.1162C>T (p.Pro388Ser)
NM_001846.4(COL4A2):c.1166dup (p.Gly390fs)
NM_001846.4(COL4A2):c.1180G>A (p.Gly394Arg)
NM_001846.4(COL4A2):c.1189+20T>C
NM_001846.4(COL4A2):c.1190-12G>A
NM_001846.4(COL4A2):c.1190-16T>C
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.1213_1222delinsTCAGATCAGAGAGG (p.Glu405fs)
NM_001846.4(COL4A2):c.1216A>G (p.Met406Val)
NM_001846.4(COL4A2):c.1223C>G (p.Pro408Arg)
NM_001846.4(COL4A2):c.1224C>T (p.Pro408=)
NM_001846.4(COL4A2):c.1236C>A (p.Ile412=)
NM_001846.4(COL4A2):c.1237G>A (p.Gly413Arg)
NM_001846.4(COL4A2):c.1237G>T (p.Gly413Ter)
NM_001846.4(COL4A2):c.123G>A (p.Pro41=)
NM_001846.4(COL4A2):c.1241A>C (p.Asp414Ala)
NM_001846.4(COL4A2):c.1244C>T (p.Pro415Leu)
NM_001846.4(COL4A2):c.1245C>T (p.Pro415=)
NM_001846.4(COL4A2):c.124T>C (p.Cys42Arg)
NM_001846.4(COL4A2):c.1259T>C (p.Leu420Pro)
NM_001846.4(COL4A2):c.1265G>A (p.Gly422Glu)
NM_001846.4(COL4A2):c.1267G>A (p.Gly423Ser)
NM_001846.4(COL4A2):c.1268G>A (p.Gly423Asp) rs2139481315
NM_001846.4(COL4A2):c.1269C>G (p.Gly423=)
NM_001846.4(COL4A2):c.1287_1339+1dup rs1566539998
NM_001846.4(COL4A2):c.1289dup (p.Arg431fs)
NM_001846.4(COL4A2):c.1291C>T (p.Arg431Ter)
NM_001846.4(COL4A2):c.1292G>A (p.Arg431Gln)
NM_001846.4(COL4A2):c.1298C>T (p.Pro433Leu)
NM_001846.4(COL4A2):c.1300C>T (p.Pro434Ser)
NM_001846.4(COL4A2):c.1309C>G (p.Pro437Ala)
NM_001846.4(COL4A2):c.1311C>G (p.Pro437=)
NM_001846.4(COL4A2):c.1311C>T (p.Pro437=)
NM_001846.4(COL4A2):c.1311dup (p.Gly438fs)
NM_001846.4(COL4A2):c.1312G>A (p.Gly438Arg)
NM_001846.4(COL4A2):c.1329T>C (p.Pro443=)
NM_001846.4(COL4A2):c.1339+2T>C
NM_001846.4(COL4A2):c.1339+65G>A rs73617587
NM_001846.4(COL4A2):c.1340-101T>G
NM_001846.4(COL4A2):c.1340-192G>C
NM_001846.4(COL4A2):c.1340-21_1340-20insGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGCGTCTGCGTGGGACCCCAGGCGTCCGTGGGGCTCATGCCCTGC rs759253067
NM_001846.4(COL4A2):c.1340-229_1340-228insCCCCAGGCGTCCGTGGGGCTGATGCCGTGCG rs746278410
NM_001846.4(COL4A2):c.1340-439G>A
NM_001846.4(COL4A2):c.1340-47C>T
NM_001846.4(COL4A2):c.1340-4C>G
NM_001846.4(COL4A2):c.1340-62_1340-21dup rs759253067
NM_001846.4(COL4A2):c.1359del (p.Gly454fs)
NM_001846.4(COL4A2):c.1364C>T (p.Ala455Val) rs2139490864
NM_001846.4(COL4A2):c.136G>A (p.Asp46Asn)
NM_001846.4(COL4A2):c.1395del (p.Gly466fs) rs747549182
NM_001846.4(COL4A2):c.1396G>A (p.Gly466Ser)
NM_001846.4(COL4A2):c.1414G>A (p.Gly472Arg) rs1465203402
NM_001846.4(COL4A2):c.1432+7A>G rs1594082204
NM_001846.4(COL4A2):c.1433-13C>T
NM_001846.4(COL4A2):c.1433-14_1433-13del
NM_001846.4(COL4A2):c.1433-18C>T rs1881884080
NM_001846.4(COL4A2):c.1438G>A (p.Ala480Thr)
NM_001846.4(COL4A2):c.1452A>G (p.Arg484=)
NM_001846.4(COL4A2):c.1452A>T (p.Arg484Ser)
NM_001846.4(COL4A2):c.1453T>C (p.Cys485Arg)
NM_001846.4(COL4A2):c.1463G>A (p.Gly488Asp)
NM_001846.4(COL4A2):c.1466_1482del (p.Asp489fs)
NM_001846.4(COL4A2):c.1467C>T (p.Asp489=)
NM_001846.4(COL4A2):c.1483C>A (p.Leu495Ile) rs2139493545
NM_001846.4(COL4A2):c.1485T>G (p.Leu495=)
NM_001846.4(COL4A2):c.1486C>T (p.Pro496Ser)
NM_001846.4(COL4A2):c.1507_1513del (p.Gly503fs)
NM_001846.4(COL4A2):c.1513G>T (p.Ala505Ser)
NM_001846.4(COL4A2):c.1521C>G (p.Ile507Met)
NM_001846.4(COL4A2):c.1525G>A (p.Gly509Arg)
NM_001846.4(COL4A2):c.1527G>A (p.Gly509=)
NM_001846.4(COL4A2):c.1533G>A (p.Pro511=)
NM_001846.4(COL4A2):c.1538G>A (p.Arg513Lys) rs2139493755
NM_001846.4(COL4A2):c.1542dup (p.Gly515fs)
NM_001846.4(COL4A2):c.1545G>C (p.Gly515=) rs536150098
NM_001846.4(COL4A2):c.1545_1546del (p.Asp516fs) rs2139493765
NM_001846.4(COL4A2):c.1547del (p.Asp516fs)
NM_001846.4(COL4A2):c.1558C>T (p.Pro520Ser)
NM_001846.4(COL4A2):c.1569C>T (p.His523=)
NM_001846.4(COL4A2):c.1570_1571del (p.Gly524fs)
NM_001846.4(COL4A2):c.1577C>T (p.Pro526Leu)
NM_001846.4(COL4A2):c.1589G>A (p.Gly530Glu)
NM_001846.4(COL4A2):c.1590G>A (p.Gly530=)
NM_001846.4(COL4A2):c.1597-284C>A rs56378529
NM_001846.4(COL4A2):c.1597-4A>G
NM_001846.4(COL4A2):c.1597-6C>T
NM_001846.4(COL4A2):c.1598G>C (p.Gly533Ala)
NM_001846.4(COL4A2):c.1611C>G (p.Asn537Lys)
NM_001846.4(COL4A2):c.1613T>C (p.Ile538Thr)
NM_001846.4(COL4A2):c.1623C>T (p.Pro541=)
NM_001846.4(COL4A2):c.1624G>A (p.Gly542Arg) rs534644575
NM_001846.4(COL4A2):c.163C>A (p.Pro55Thr)
NM_001846.4(COL4A2):c.1641A>T (p.Lys547Asn) rs2139498824
NM_001846.4(COL4A2):c.1645G>A (p.Asp549Asn) rs1392128437
NM_001846.4(COL4A2):c.1658T>C (p.Ile553Thr) rs2139498877
NM_001846.4(COL4A2):c.165T>G (p.Pro55=)
NM_001846.4(COL4A2):c.1663A>C (p.Thr555Pro)
NM_001846.4(COL4A2):c.1670-13A>G
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.1697G>T (p.Gly566Val)
NM_001846.4(COL4A2):c.1714G>A (p.Gly572Ser)
NM_001846.4(COL4A2):c.1722T>C (p.Asp574=)
NM_001846.4(COL4A2):c.1725C>T (p.Gly575=)
NM_001846.4(COL4A2):c.1727G>A (p.Ser576Asn) rs1085307799
NM_001846.4(COL4A2):c.1733G>C (p.Gly578Ala)
NM_001846.4(COL4A2):c.1735C>T (p.Arg579Cys)
NM_001846.4(COL4A2):c.1736G>A (p.Arg579His)
NM_001846.4(COL4A2):c.1747G>A (p.Asp583Asn)
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
NM_001846.4(COL4A2):c.1762C>T (p.Leu588Phe)
NM_001846.4(COL4A2):c.1775C>T (p.Pro592Leu) rs2139499327
NM_001846.4(COL4A2):c.1776+189A>G rs7992086
NM_001846.4(COL4A2):c.1776+1G>T rs886039602
NM_001846.4(COL4A2):c.1776+20_1776+21delinsAA
NM_001846.4(COL4A2):c.1777-1G>C rs2139503359
NM_001846.4(COL4A2):c.1777-38A>C rs115124008
NM_001846.4(COL4A2):c.1784G>C (p.Gly595Ala)
NM_001846.4(COL4A2):c.1793G>A (p.Gly598Asp)
NM_001846.4(COL4A2):c.1805A>G (p.Asp602Gly)
NM_001846.4(COL4A2):c.181-141T>C rs4771678
NM_001846.4(COL4A2):c.181-17C>A
NM_001846.4(COL4A2):c.181-83dup rs71127938
NM_001846.4(COL4A2):c.181-85_181-83dup rs71127938
NM_001846.4(COL4A2):c.181-86_181-83dup rs71127938
NM_001846.4(COL4A2):c.181-87_181-83dup rs71127938
NM_001846.4(COL4A2):c.181-9T>C
NM_001846.4(COL4A2):c.1822A>G (p.Ile608Val)
NM_001846.4(COL4A2):c.1824A>G (p.Ile608Met)
NM_001846.4(COL4A2):c.1833G>A (p.Thr611=)
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp) rs1594088780
NM_001846.4(COL4A2):c.1864G>T (p.Gly622Ter)
NM_001846.4(COL4A2):c.1873C>T (p.Leu625Phe)
NM_001846.4(COL4A2):c.1878C>T (p.Pro626=)
NM_001846.4(COL4A2):c.1885A>G (p.Lys629Glu)
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp) rs1057523764
NM_001846.4(COL4A2):c.1907G>A (p.Gly636Glu)
NM_001846.4(COL4A2):c.1909G>A (p.Asp637Asn) rs2139503578
NM_001846.4(COL4A2):c.1916G>A (p.Gly639Asp)
NM_001846.4(COL4A2):c.1939C>T (p.Leu647=) rs748187379
NM_001846.4(COL4A2):c.1943G>T (p.Gly648Val) rs2139503646
NM_001846.4(COL4A2):c.1950T>A (p.Pro650=)
NM_001846.4(COL4A2):c.1956C>T (p.Pro652=)
NM_001846.4(COL4A2):c.1959A>G (p.Ala653=)
NM_001846.4(COL4A2):c.1974A>G (p.Gln658=)
NM_001846.4(COL4A2):c.1978+20T>C
NM_001846.4(COL4A2):c.1979-14T>C
NM_001846.4(COL4A2):c.1979-3del
NM_001846.4(COL4A2):c.1979-4C>G
NM_001846.4(COL4A2):c.197T>C (p.Val66Ala)
NM_001846.4(COL4A2):c.1987dup (p.Thr663fs)
NM_001846.4(COL4A2):c.2001G>C (p.Arg667Ser)
NM_001846.4(COL4A2):c.2009G>T (p.Gly670Val)
NM_001846.4(COL4A2):c.2030T>G (p.Ile677Ser)
NM_001846.4(COL4A2):c.2032C>T (p.Gln678Ter) rs2139504287
NM_001846.4(COL4A2):c.2038+15G>A
NM_001846.4(COL4A2):c.2038+165A>G rs1927351
NM_001846.4(COL4A2):c.2038+19G>A
NM_001846.4(COL4A2):c.2038+1G>A
NM_001846.4(COL4A2):c.2038+9G>A
NM_001846.4(COL4A2):c.2039-6C>A
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.205C>T (p.Gln69Ter) rs1175562839
NM_001846.4(COL4A2):c.2070_2078del (p.688LPG[1])
NM_001846.4(COL4A2):c.2079A>C (p.Gly693=) rs2139505382
NM_001846.4(COL4A2):c.207G>A (p.Gln69=)
NM_001846.4(COL4A2):c.2081C>T (p.Pro694Leu)
NM_001846.4(COL4A2):c.2084del (p.Pro695fs)
NM_001846.4(COL4A2):c.2086G>A (p.Gly696Ser)
NM_001846.4(COL4A2):c.2090_2091del (p.Pro697fs) rs1555330957
NM_001846.4(COL4A2):c.2093C>G (p.Thr698Arg)
NM_001846.4(COL4A2):c.2095+10G>A
NM_001846.4(COL4A2):c.2095+7C>T
NM_001846.4(COL4A2):c.2096-120C>A rs9559813
NM_001846.4(COL4A2):c.2096-12T>G
NM_001846.4(COL4A2):c.2096-2A>C
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.2173G>A (p.Ala725Thr)
NM_001846.4(COL4A2):c.2177G>A (p.Gly726Asp)
NM_001846.4(COL4A2):c.2179C>A (p.Arg727Ser)
NM_001846.4(COL4A2):c.217G>C (p.Gly73Arg)
NM_001846.4(COL4A2):c.2183A>T (p.Glu728Val)
NM_001846.4(COL4A2):c.2204-14A>G
NM_001846.4(COL4A2):c.2204-305A>C rs9559817
NM_001846.4(COL4A2):c.2204-305A>T rs9559817
NM_001846.4(COL4A2):c.2216C>A (p.Pro739His)
NM_001846.4(COL4A2):c.2219G>A (p.Arg740Gln)
NM_001846.4(COL4A2):c.2248G>C (p.Gly750Arg)
NM_001846.4(COL4A2):c.2262_2274dup (p.Gly759fs)
NM_001846.4(COL4A2):c.2265A>G (p.Pro755=)
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu) rs1882538642
NM_001846.4(COL4A2):c.2291A>G (p.Asp764Gly)
NM_001846.4(COL4A2):c.2297C>G (p.Pro766Arg) rs1193775766
NM_001846.4(COL4A2):c.2298C>T (p.Pro766=)
NM_001846.4(COL4A2):c.2308A>T (p.Arg770Trp)
NM_001846.4(COL4A2):c.2317C>T (p.Pro773Ser) rs886049976
NM_001846.4(COL4A2):c.2328C>A (p.Val776=)
NM_001846.4(COL4A2):c.2332G>A (p.Gly778Arg)
NM_001846.4(COL4A2):c.2341C>T (p.Pro781Ser)
NM_001846.4(COL4A2):c.2342C>G (p.Pro781Arg) rs2139512765
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln)
NM_001846.4(COL4A2):c.2353G>A (p.Gly785Arg) rs1882542959
NM_001846.4(COL4A2):c.2357A>T (p.Asp786Val)
NM_001846.4(COL4A2):c.2368C>G (p.Pro790Ala)
NM_001846.4(COL4A2):c.2376G>A (p.Gln792=)
NM_001846.4(COL4A2):c.2383C>T (p.Leu795Phe) rs1340849111
NM_001846.4(COL4A2):c.2390G>A (p.Gly797Asp)
NM_001846.4(COL4A2):c.2391C>T (p.Gly797=)
NM_001846.4(COL4A2):c.2397C>T (p.Pro799=)
NM_001846.4(COL4A2):c.2398G>A (p.Gly800Arg)
NM_001846.4(COL4A2):c.2408G>A (p.Gly803Asp)
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.241C>T (p.Pro81Ser)
NM_001846.4(COL4A2):c.2420T>G (p.Phe807Cys)
NM_001846.4(COL4A2):c.2425+14C>T
NM_001846.4(COL4A2):c.2425+3G>A
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.2429G>A (p.Ser810Asn) rs372516991
NM_001846.4(COL4A2):c.2437A>T (p.Met813Leu)
NM_001846.4(COL4A2):c.243G>A (p.Pro81=)
NM_001846.4(COL4A2):c.2442_2450dup (p.Gly818_Leu819insMetProGly)
NM_001846.4(COL4A2):c.2446del (p.Met816fs)
NM_001846.4(COL4A2):c.2447T>A (p.Met816Lys)
NM_001846.4(COL4A2):c.2461G>A (p.Gly821Ser)
NM_001846.4(COL4A2):c.2487C>T (p.Ser829=)
NM_001846.4(COL4A2):c.2488G>A (p.Gly830Ser) rs1333372502
NM_001846.4(COL4A2):c.2495C>T (p.Pro832Leu)
NM_001846.4(COL4A2):c.2509C>T (p.Pro837Ser)
NM_001846.4(COL4A2):c.2511T>A (p.Pro837=) rs2139519210
NM_001846.4(COL4A2):c.2514A>G (p.Pro838=)
NM_001846.4(COL4A2):c.2539C>T (p.Pro847Ser) rs2139519248
NM_001846.4(COL4A2):c.253G>A (p.Gly85Arg)
NM_001846.4(COL4A2):c.2552G>T (p.Gly851Val)
NM_001846.4(COL4A2):c.2569G>A (p.Gly857Arg) rs1555331796
NM_001846.4(COL4A2):c.256C>T (p.Arg86Cys)
NM_001846.4(COL4A2):c.2576C>T (p.Pro859Leu)
NM_001846.4(COL4A2):c.2579G>A (p.Gly860Asp)
NM_001846.4(COL4A2):c.2582G>A (p.Arg861His)
NM_001846.4(COL4A2):c.2585A>T (p.Glu862Val)
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.2587+2T>G
NM_001846.4(COL4A2):c.2588-12T>G
NM_001846.4(COL4A2):c.2588-204_2588-201dup rs10624085
NM_001846.4(COL4A2):c.2588-210A>T rs530877147
NM_001846.4(COL4A2):c.2588-266C>T rs77433282
NM_001846.4(COL4A2):c.2624G>C (p.Gly875Ala) rs2139522138
NM_001846.4(COL4A2):c.2626G>A (p.Ala876Thr)
NM_001846.4(COL4A2):c.2628T>C (p.Ala876=) rs1594099038
NM_001846.4(COL4A2):c.2635C>A (p.Pro879Thr)
NM_001846.4(COL4A2):c.2640G>A (p.Val880=)
NM_001846.4(COL4A2):c.2655C>G (p.Leu885=)
NM_001846.4(COL4A2):c.2657C>T (p.Ser886Phe)
NM_001846.4(COL4A2):c.2661T>C (p.Gly887=) rs1277653915
NM_001846.4(COL4A2):c.2672A>G (p.Asp891Gly)
NM_001846.4(COL4A2):c.2682C>T (p.Phe894=)
NM_001846.4(COL4A2):c.2694A>G (p.Gln898=)
NM_001846.4(COL4A2):c.2702C>T (p.Pro901Leu)
NM_001846.4(COL4A2):c.2707A>G (p.Ser903Gly) rs2139522253
NM_001846.4(COL4A2):c.2709C>T (p.Ser903=)
NM_001846.4(COL4A2):c.2730T>C (p.Asp910=)
NM_001846.4(COL4A2):c.2749G>A (p.Gly917Arg)
NM_001846.4(COL4A2):c.2751G>A (p.Gly917=)
NM_001846.4(COL4A2):c.2758+1G>A
NM_001846.4(COL4A2):c.2758+1G>T
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.275A>G (p.Glu92Gly)
NM_001846.4(COL4A2):c.2762A>T (p.Asp921Val)
NM_001846.4(COL4A2):c.2763T>C (p.Asp921=)
NM_001846.4(COL4A2):c.2770T>C (p.Ser924Pro)
NM_001846.4(COL4A2):c.2771C>T (p.Ser924Leu)
NM_001846.4(COL4A2):c.2773C>T (p.Pro925Ser)
NM_001846.4(COL4A2):c.2774C>G (p.Pro925Arg)
NM_001846.4(COL4A2):c.2798T>C (p.Met933Thr)
NM_001846.4(COL4A2):c.2799G>A (p.Met933Ile) rs1336692495
NM_001846.4(COL4A2):c.2800C>T (p.Pro934Ser)
NM_001846.4(COL4A2):c.2814G>C (p.Gly938=)
NM_001846.4(COL4A2):c.281G>A (p.Gly94Glu)
NM_001846.4(COL4A2):c.2820C>T (p.Pro940=)
NM_001846.4(COL4A2):c.2821G>A (p.Gly941Arg)
NM_001846.4(COL4A2):c.2832G>A (p.Gly944=)
NM_001846.4(COL4A2):c.2836A>G (p.Lys946Glu)
NM_001846.4(COL4A2):c.2840G>T (p.Gly947Val)
NM_001846.4(COL4A2):c.2844G>A (p.Glu948=)
NM_001846.4(COL4A2):c.2846C>T (p.Ala949Val) rs778696475
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp) rs754829210
NM_001846.4(COL4A2):c.284C>T (p.Ala95Val) rs754829210
NM_001846.4(COL4A2):c.2852T>C (p.Phe951Ser)
NM_001846.4(COL4A2):c.287C>T (p.Pro96Leu)
NM_001846.4(COL4A2):c.288C>T (p.Pro96=)
NM_001846.4(COL4A2):c.2894G>A (p.Gly965Asp) rs776550709
NM_001846.4(COL4A2):c.28G>A (p.Gly10Ser)
NM_001846.4(COL4A2):c.2902+3A>T
NM_001846.4(COL4A2):c.2903-19G>A
NM_001846.4(COL4A2):c.2903-4C>T
NM_001846.4(COL4A2):c.2921G>A (p.Gly974Glu)
NM_001846.4(COL4A2):c.2922G>T (p.Gly974=)
NM_001846.4(COL4A2):c.292G>A (p.Val98Ile)
NM_001846.4(COL4A2):c.2954G>C (p.Gly985Ala)
NM_001846.4(COL4A2):c.2954_2955delinsTT (p.Gly985Val) rs2139528190
NM_001846.4(COL4A2):c.2958G>A (p.Met986Ile)
NM_001846.4(COL4A2):c.2978A>G (p.Lys993Arg)
NM_001846.4(COL4A2):c.298G>A (p.Gly100Arg) rs1251400296
NM_001846.4(COL4A2):c.2997G>A (p.Met999Ile)
NM_001846.4(COL4A2):c.3013C>G (p.Leu1005Val)
NM_001846.4(COL4A2):c.3025+10C>A
NM_001846.4(COL4A2):c.3025+1G>T
NM_001846.4(COL4A2):c.3025+8T>C
NM_001846.4(COL4A2):c.3026-19C>T
NM_001846.4(COL4A2):c.3026-208G>A rs11839559
NM_001846.4(COL4A2):c.3028A>G (p.Ile1010Val)
NM_001846.4(COL4A2):c.302C>A (p.Pro101His)
NM_001846.4(COL4A2):c.3069T>C (p.Pro1023=)
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.3096C>G (p.Ile1032Met)
NM_001846.4(COL4A2):c.310G>A (p.Asp104Asn)
NM_001846.4(COL4A2):c.3124C>T (p.Pro1042Ser)
NM_001846.4(COL4A2):c.3125C>T (p.Pro1042Leu)
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs) rs1268038830
NM_001846.4(COL4A2):c.3136G>A (p.Gly1046Ser)
NM_001846.4(COL4A2):c.3143C>A (p.Pro1048Gln) rs767119766
NM_001846.4(COL4A2):c.315+5G>A rs1406323858
NM_001846.4(COL4A2):c.3155G>T (p.Gly1052Val)
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.3170dup (p.Gly1058fs) rs969435078
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.3208-8G>A
NM_001846.4(COL4A2):c.3218G>A (p.Gly1073Asp)
NM_001846.4(COL4A2):c.321A>G (p.Ala107=)
NM_001846.4(COL4A2):c.3224C>T (p.Pro1075Leu)
NM_001846.4(COL4A2):c.322dup (p.Arg108fs)
NM_001846.4(COL4A2):c.3237C>A (p.Gly1079=) rs770333998
NM_001846.4(COL4A2):c.3247G>A (p.Glu1083Lys)
NM_001846.4(COL4A2):c.3248A>G (p.Glu1083Gly)
NM_001846.4(COL4A2):c.3250A>G (p.Ile1084Val)
NM_001846.4(COL4A2):c.3251T>C (p.Ile1084Thr)
NM_001846.4(COL4A2):c.3258G>T (p.Ala1086=) rs267603756
NM_001846.4(COL4A2):c.325G>T (p.Gly109Cys) rs2139454203
NM_001846.4(COL4A2):c.3261T>A (p.Thr1087=)
NM_001846.4(COL4A2):c.3263G>A (p.Gly1088Asp) rs2139533967
NM_001846.4(COL4A2):c.3270C>T (p.Phe1090=)
NM_001846.4(COL4A2):c.3271+13C>T
NM_001846.4(COL4A2):c.3271+14G>A
NM_001846.4(COL4A2):c.3271+1G>C
NM_001846.4(COL4A2):c.3271G>A (p.Gly1091Ser)
NM_001846.4(COL4A2):c.3272-10C>T
NM_001846.4(COL4A2):c.3272-8T>C
NM_001846.4(COL4A2):c.3272G>A (p.Gly1091Asp)
NM_001846.4(COL4A2):c.3272G>T (p.Gly1091Val) rs2139534208
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
NM_001846.4(COL4A2):c.3279C>T (p.Ile1093=)
NM_001846.4(COL4A2):c.3280G>A (p.Gly1094Arg)
NM_001846.4(COL4A2):c.3287C>T (p.Thr1096Ile)
NM_001846.4(COL4A2):c.3301G>A (p.Gly1101Arg)
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+3dup
NM_001846.4(COL4A2):c.3346+9G>A
NM_001846.4(COL4A2):c.3347-13T>C rs2139536118
NM_001846.4(COL4A2):c.3347-14G>A
NM_001846.4(COL4A2):c.3378A>G (p.Thr1126=)
NM_001846.4(COL4A2):c.3389T>C (p.Ile1130Thr)
NM_001846.4(COL4A2):c.3398C>G (p.Pro1133Arg)
NM_001846.4(COL4A2):c.3400G>A (p.Gly1134Arg) rs1085307983
NM_001846.4(COL4A2):c.3409G>A (p.Gly1137Ser)
NM_001846.4(COL4A2):c.3425A>G (p.Gln1142Arg)
NM_001846.4(COL4A2):c.3436G>A (p.Gly1146Arg)
NM_001846.4(COL4A2):c.3448C>T (p.Gln1150Ter) rs62621875
NM_001846.4(COL4A2):c.3454+12C>T
NM_001846.4(COL4A2):c.3454+16G>A
NM_001846.4(COL4A2):c.3454+294C>G rs367998
NM_001846.4(COL4A2):c.3454+5A>T
NM_001846.4(COL4A2):c.3455-17G>A
NM_001846.4(COL4A2):c.3455-315T>C rs452020
NM_001846.4(COL4A2):c.3455-321G>C rs403241
NM_001846.4(COL4A2):c.3455-6C>T
NM_001846.4(COL4A2):c.3456C>T (p.Gly1152=)
NM_001846.4(COL4A2):c.3466del (p.Gly1155_Leu1156insTer)
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg) rs2139537197
NM_001846.4(COL4A2):c.3474G>C (p.Gly1158=)
NM_001846.4(COL4A2):c.347C>T (p.Ala116Val)
NM_001846.4(COL4A2):c.3486G>A (p.Ser1162=)
NM_001846.4(COL4A2):c.3487C>G (p.Gln1163Glu) rs1594106494
NM_001846.4(COL4A2):c.348C>T (p.Ala116=)
NM_001846.4(COL4A2):c.3490G>A (p.Gly1164Arg) rs1057519090
NM_001846.4(COL4A2):c.3491G>C (p.Gly1164Ala)
NM_001846.4(COL4A2):c.3499G>A (p.Gly1167Arg)
NM_001846.4(COL4A2):c.349G>A (p.Asp117Asn) rs374976511
NM_001846.4(COL4A2):c.34G>A (p.Ala12Thr)
NM_001846.4(COL4A2):c.3508G>A (p.Gly1170Arg)
NM_001846.4(COL4A2):c.350A>G (p.Asp117Gly)
NM_001846.4(COL4A2):c.3512T>A (p.Leu1171Gln)
NM_001846.4(COL4A2):c.3534T>C (p.Asp1178=)
NM_001846.4(COL4A2):c.3535G>A (p.Gly1179Ser) rs1206297668
NM_001846.4(COL4A2):c.3536G>C (p.Gly1179Ala)
NM_001846.4(COL4A2):c.3542C>T (p.Pro1181Leu)
NM_001846.4(COL4A2):c.3543G>A (p.Pro1181=)
NM_001846.4(COL4A2):c.3548C>T (p.Ala1183Val)
NM_001846.4(COL4A2):c.3554G>C (p.Gly1185Ala)
NM_001846.4(COL4A2):c.3562+285C>T rs9559824
NM_001846.4(COL4A2):c.3562G>A (p.Gly1188Ser)
NM_001846.4(COL4A2):c.3563-102_3563-39del rs1566565602
NM_001846.4(COL4A2):c.3563-102_3563-73del rs368846438
NM_001846.4(COL4A2):c.3563-20G>A
NM_001846.4(COL4A2):c.3563-32_3564del rs1445782575
NM_001846.4(COL4A2):c.3563-4G>A
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.3571G>A (p.Gly1191Arg) rs2139538715
NM_001846.4(COL4A2):c.3577C>T (p.Arg1193Cys)
NM_001846.4(COL4A2):c.3586C>T (p.Arg1196Cys)
NM_001846.4(COL4A2):c.3587G>A (p.Arg1196His)
NM_001846.4(COL4A2):c.3589G>A (p.Gly1197Ser)
NM_001846.4(COL4A2):c.3594A>G (p.Leu1198=)
NM_001846.4(COL4A2):c.360+17A>C
NM_001846.4(COL4A2):c.360+2T>C rs2139454253
NM_001846.4(COL4A2):c.360+60del rs58151684
NM_001846.4(COL4A2):c.360+6T>C rs1131691273
NM_001846.4(COL4A2):c.361-15T>A
NM_001846.4(COL4A2):c.361-1G>A
NM_001846.4(COL4A2):c.361-286_361-283del rs10616907
NM_001846.4(COL4A2):c.3613A>G (p.Lys1205Glu)
NM_001846.4(COL4A2):c.3632C>T (p.Pro1211Leu)
NM_001846.4(COL4A2):c.3634+1G>A rs2139538797
NM_001846.4(COL4A2):c.3634+47G>C rs2391833
NM_001846.4(COL4A2):c.3635-3C>T
NM_001846.4(COL4A2):c.3648C>T (p.His1216=)
NM_001846.4(COL4A2):c.3652G>T (p.Asp1218Tyr)
NM_001846.4(COL4A2):c.3684A>G (p.Arg1228=)
NM_001846.4(COL4A2):c.3686del (p.Gly1229fs) rs1883424044
NM_001846.4(COL4A2):c.368C>T (p.Pro123Leu)
NM_001846.4(COL4A2):c.3695G>C (p.Gly1232Ala)
NM_001846.4(COL4A2):c.3699G>A (p.Glu1233=)
NM_001846.4(COL4A2):c.369G>A (p.Pro123=)
NM_001846.4(COL4A2):c.3712C>A (p.Pro1238Thr)
NM_001846.4(COL4A2):c.3712C>G (p.Pro1238Ala)
NM_001846.4(COL4A2):c.3712C>T (p.Pro1238Ser)
NM_001846.4(COL4A2):c.3745G>A (p.Asp1249Asn)
NM_001846.4(COL4A2):c.3747C>A (p.Asp1249Glu)
NM_001846.4(COL4A2):c.3760+9A>C
NM_001846.4(COL4A2):c.3761-17_3761-15del
NM_001846.4(COL4A2):c.3761-8A>G
NM_001846.4(COL4A2):c.3761-8A>T
NM_001846.4(COL4A2):c.3762G>A (p.Gly1254=)
NM_001846.4(COL4A2):c.3766C>T (p.Arg1256Ter)
NM_001846.4(COL4A2):c.3767G>A (p.Arg1256Gln)
NM_001846.4(COL4A2):c.3769G>A (p.Gly1257Ser) rs2139549819
NM_001846.4(COL4A2):c.376G>T (p.Gly126Cys)
NM_001846.4(COL4A2):c.377G>A (p.Gly126Asp) rs1880549875
NM_001846.4(COL4A2):c.3786A>G (p.Pro1262=)
NM_001846.4(COL4A2):c.3793C>A (p.Gln1265Lys)
NM_001846.4(COL4A2):c.3796G>T (p.Gly1266Trp) rs1555333415
NM_001846.4(COL4A2):c.3798G>T (p.Gly1266=)
NM_001846.4(COL4A2):c.3804= (p.Pro1268=)
NM_001846.4(COL4A2):c.3807= (p.Gly1269=)
NM_001846.4(COL4A2):c.3809T>C (p.Ile1270Thr)
NM_001846.4(COL4A2):c.3817C>T (p.Pro1273Ser)
NM_001846.4(COL4A2):c.3842G>A (p.Gly1281Asp) rs2139549975
NM_001846.4(COL4A2):c.3855G>A (p.Ala1285=)
NM_001846.4(COL4A2):c.3873G>A (p.Leu1291=)
NM_001846.4(COL4A2):c.3877+10A>T
NM_001846.4(COL4A2):c.3877+8_3877+9del
NM_001846.4(COL4A2):c.3878-3C>T
NM_001846.4(COL4A2):c.3882T>G (p.Tyr1294Ter)
NM_001846.4(COL4A2):c.3882_3891dup (p.Pro1298fs) rs2139552020
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
NM_001846.4(COL4A2):c.389del (p.Gly130fs) rs758180751
NM_001846.4(COL4A2):c.38T>A (p.Leu13Gln)
NM_001846.4(COL4A2):c.3900A>T (p.Pro1300=)
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)
NM_001846.4(COL4A2):c.3963C>A (p.Thr1321=)
NM_001846.4(COL4A2):c.3977G>A (p.Gly1326Glu)
NM_001846.4(COL4A2):c.3982G>T (p.Ala1328Ser)
NM_001846.4(COL4A2):c.3984C>T (p.Ala1328=) rs538131418
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.4032A>G (p.Gly1344=)
NM_001846.4(COL4A2):c.4033G>C (p.Glu1345Gln)
NM_001846.4(COL4A2):c.4039+1G>A rs1555333502
NM_001846.4(COL4A2):c.4039+6A>T
NM_001846.4(COL4A2):c.4040-18G>A
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp) rs2139552522
NM_001846.4(COL4A2):c.4051G>A (p.Glu1351Lys)
NM_001846.4(COL4A2):c.4058G>C (p.Gly1353Ala) rs1064795332
NM_001846.4(COL4A2):c.4064T>C (p.Met1355Thr)
NM_001846.4(COL4A2):c.4083= (p.Thr1361=)
NM_001846.4(COL4A2):c.4088C>T (p.Ala1363Val)
NM_001846.4(COL4A2):c.4089_4090delinsAT (p.Val1364Leu) rs2139552619
NM_001846.4(COL4A2):c.4095C>T (p.Gly1365=)
NM_001846.4(COL4A2):c.4095del (p.Asp1366fs)
NM_001846.4(COL4A2):c.4126C>G (p.Pro1376Ala)
NM_001846.4(COL4A2):c.4138+10C>T
NM_001846.4(COL4A2):c.4138+13C>G rs577133380
NM_001846.4(COL4A2):c.4138+16G>A
NM_001846.4(COL4A2):c.4139-155G>A rs146514580
NM_001846.4(COL4A2):c.4139-20C>A
NM_001846.4(COL4A2):c.4141G>A (p.Ala1381Thr)
NM_001846.4(COL4A2):c.4149G>T (p.Gly1383=)
NM_001846.4(COL4A2):c.414C>T (p.Asn138=)
NM_001846.4(COL4A2):c.416G>A (p.Gly139Glu)
NM_001846.4(COL4A2):c.4176A>G (p.Gly1392=)
NM_001846.4(COL4A2):c.4180C>T (p.Pro1394Ser)
NM_001846.4(COL4A2):c.4202C>T (p.Pro1401Leu)
NM_001846.4(COL4A2):c.4225A>T (p.Arg1409Trp)
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.4249G>T (p.Gly1417Trp)
NM_001846.4(COL4A2):c.4255_4256delinsGC (p.Met1419Ala) rs1594114117
NM_001846.4(COL4A2):c.4256delinsCG (p.Met1419fs)
NM_001846.4(COL4A2):c.4263C>T (p.Pro1421=)
NM_001846.4(COL4A2):c.4269C>A (p.Gly1423=)
NM_001846.4(COL4A2):c.4269C>T (p.Gly1423=)
NM_001846.4(COL4A2):c.4275C>A (p.Pro1425=) rs529617799
NM_001846.4(COL4A2):c.4275dup (p.Gly1426fs) rs34603892
NM_001846.4(COL4A2):c.4276G>A (p.Gly1426Arg) rs2139553655
NM_001846.4(COL4A2):c.4285+4G>T
NM_001846.4(COL4A2):c.4286-11G>T
NM_001846.4(COL4A2):c.4286-20G>A
NM_001846.4(COL4A2):c.4290= (p.Phe1430=)
NM_001846.4(COL4A2):c.4290_4291delinsTT (p.Arg1431Cys) rs2139553984
NM_001846.4(COL4A2):c.4292G>A (p.Arg1431His)
NM_001846.4(COL4A2):c.4316C>T (p.Pro1439Leu)
NM_001846.4(COL4A2):c.4327G>T (p.Gly1443Cys)
NM_001846.4(COL4A2):c.432A>G (p.Ser144=) rs1594208742
NM_001846.4(COL4A2):c.4354C>T (p.Arg1452Trp)
NM_001846.4(COL4A2):c.4357G>T (p.Gly1453Ter) rs1555333626
NM_001846.4(COL4A2):c.4381C>G (p.Gln1461Glu) rs1883762955
NM_001846.4(COL4A2):c.4383G>A (p.Gln1461=)
NM_001846.4(COL4A2):c.4383G>T (p.Gln1461His)
NM_001846.4(COL4A2):c.4388C>T (p.Pro1463Leu) rs766824658
NM_001846.4(COL4A2):c.4390A>G (p.Ile1464Val)
NM_001846.4(COL4A2):c.439C>T (p.Gln147Ter)
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.44+9C>T
NM_001846.4(COL4A2):c.4402+11G>A
NM_001846.4(COL4A2):c.4402+18_4402+43del
NM_001846.4(COL4A2):c.4402+322G>A rs4773201
NM_001846.4(COL4A2):c.4403-157CT[10] rs10558706
NM_001846.4(COL4A2):c.4403-157CT[9] rs10558706
NM_001846.4(COL4A2):c.4403-244G>A rs114047506
NM_001846.4(COL4A2):c.4403-4G>A
NM_001846.4(COL4A2):c.4426C>G (p.Pro1476Ala) rs2139558047
NM_001846.4(COL4A2):c.4427C>T (p.Pro1476Leu)
NM_001846.4(COL4A2):c.4439G>C (p.Gly1480Ala)
NM_001846.4(COL4A2):c.4441A>G (p.Met1481Val)
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
NM_001846.4(COL4A2):c.4451G>A (p.Arg1484His)
NM_001846.4(COL4A2):c.4453A>G (p.Ser1485Gly) rs753103440
NM_001846.4(COL4A2):c.4454G>T (p.Ser1485Ile)
NM_001846.4(COL4A2):c.4455C>T (p.Ser1485=)
NM_001846.4(COL4A2):c.4461C>T (p.Ser1487=)
NM_001846.4(COL4A2):c.4465G>A (p.Gly1489Ser)
NM_001846.4(COL4A2):c.4466G>A (p.Gly1489Asp) rs1025762255
NM_001846.4(COL4A2):c.4468T>C (p.Tyr1490His)
NM_001846.4(COL4A2):c.446C>A (p.Pro149His)
NM_001846.4(COL4A2):c.4470C>T (p.Tyr1490=)
NM_001846.4(COL4A2):c.4473C>T (p.Leu1491=)
NM_001846.4(COL4A2):c.4487G>C (p.Ser1496Thr)
NM_001846.4(COL4A2):c.4493C>T (p.Thr1498Met)
NM_001846.4(COL4A2):c.449C>T (p.Pro150Leu)
NM_001846.4(COL4A2):c.45-17C>T rs2139334431
NM_001846.4(COL4A2):c.45-1G>A
NM_001846.4(COL4A2):c.45-8C>T
NM_001846.4(COL4A2):c.450dup (p.Gly151fs)
NM_001846.4(COL4A2):c.4512C>T (p.Cys1504=)
NM_001846.4(COL4A2):c.4514_4515inv (p.Pro1505Leu)
NM_001846.4(COL4A2):c.4515_4516delinsGA (p.Val1506Met)
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4565G>C (p.Gly1522Ala)
NM_001846.4(COL4A2):c.4577C>T (p.Ala1526Val)
NM_001846.4(COL4A2):c.4591C>G (p.Leu1531Val)
NM_001846.4(COL4A2):c.4594+101G>A rs7316969
NM_001846.4(COL4A2):c.4594+17C>T rs141097444
NM_001846.4(COL4A2):c.4594+18G>A
NM_001846.4(COL4A2):c.4594+6T>C
NM_001846.4(COL4A2):c.4595-15C>T
NM_001846.4(COL4A2):c.4595-6C>G
NM_001846.4(COL4A2):c.4597C>A (p.Leu1533Met)
NM_001846.4(COL4A2):c.4599G>A (p.Leu1533=)
NM_001846.4(COL4A2):c.4600G>T (p.Ala1534Ser)
NM_001846.4(COL4A2):c.4605C>T (p.Gly1535=)
NM_001846.4(COL4A2):c.4614G>A (p.Leu1538=)
NM_001846.4(COL4A2):c.4616C>T (p.Ala1539Val)
NM_001846.4(COL4A2):c.4619G>A (p.Arg1540Gln)
NM_001846.4(COL4A2):c.4646G>A (p.Cys1549Tyr)
NM_001846.4(COL4A2):c.4653T>C (p.Pro1551=)
NM_001846.4(COL4A2):c.4675A>G (p.Ser1559Gly)
NM_001846.4(COL4A2):c.4683C>G (p.Asn1561Lys)
NM_001846.4(COL4A2):c.4684G>A (p.Asp1562Asn)
NM_001846.4(COL4A2):c.4691C>A (p.Ser1564Tyr)
NM_001846.4(COL4A2):c.4698G>A (p.Trp1566Ter)
NM_001846.4(COL4A2):c.4709C>A (p.Thr1570Asn) rs2139560153
NM_001846.4(COL4A2):c.4713G>A (p.Ala1571=)
NM_001846.4(COL4A2):c.4715C>T (p.Pro1572Leu)
NM_001846.4(COL4A2):c.4728G>A (p.Met1576Ile)
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.4765C>T (p.Arg1589Cys)
NM_001846.4(COL4A2):c.4766G>A (p.Arg1589His)
NM_001846.4(COL4A2):c.477+18G>A
NM_001846.4(COL4A2):c.477+1G>A
NM_001846.4(COL4A2):c.477+333dup rs111741214
NM_001846.4(COL4A2):c.477+7A>G
NM_001846.4(COL4A2):c.4772C>G (p.Ser1591Cys)
NM_001846.4(COL4A2):c.4774G>C (p.Val1592Leu)
NM_001846.4(COL4A2):c.477C>T (p.Pro159=)
NM_001846.4(COL4A2):c.478-75C>A rs3929758
NM_001846.4(COL4A2):c.4780G>C (p.Glu1594Gln)
NM_001846.4(COL4A2):c.4784C>G (p.Ala1595Gly)
NM_001846.4(COL4A2):c.4792A>G (p.Ile1598Val)
NM_001846.4(COL4A2):c.4800C>T (p.Ile1600=)
NM_001846.4(COL4A2):c.4801G>A (p.Ala1601Thr)
NM_001846.4(COL4A2):c.4803G>A (p.Ala1601=)
NM_001846.4(COL4A2):c.4807C>A (p.His1603Asn)
NM_001846.4(COL4A2):c.4815G>C (p.Gln1605His) rs746358473
NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser)
NM_001846.4(COL4A2):c.4833C>T (p.His1611=)
NM_001846.4(COL4A2):c.4842T>A (p.Ala1614=)
NM_001846.4(COL4A2):c.4843G>T (p.Gly1615Trp)
NM_001846.4(COL4A2):c.4863_4867del (p.Gly1622fs)
NM_001846.4(COL4A2):c.4878C>T (p.Leu1626=)
NM_001846.4(COL4A2):c.487G>T (p.Gly163Ter)
NM_001846.4(COL4A2):c.4881+18A>G
NM_001846.4(COL4A2):c.4881+6T>A
NM_001846.4(COL4A2):c.4882-11T>C rs1884094379
NM_001846.4(COL4A2):c.4882-12C>T
NM_001846.4(COL4A2):c.4882-13C>G rs375187382
NM_001846.4(COL4A2):c.4882-6G>C rs1884094603
NM_001846.4(COL4A2):c.4889C>T (p.Ala1630Val)
NM_001846.4(COL4A2):c.4893G>A (p.Ala1631=)
NM_001846.4(COL4A2):c.4894G>C (p.Gly1632Arg)
NM_001846.4(COL4A2):c.4899C>T (p.Asp1633=)
NM_001846.4(COL4A2):c.4903G>A (p.Gly1635Ser)
NM_001846.4(COL4A2):c.4905C>T (p.Gly1635=)
NM_001846.4(COL4A2):c.4912C>T (p.Gln1638Ter) rs2139564451
NM_001846.4(COL4A2):c.491C>A (p.Pro164Gln)
NM_001846.4(COL4A2):c.4921G>A (p.Val1641Met)
NM_001846.4(COL4A2):c.4922T>C (p.Val1641Ala)
NM_001846.4(COL4A2):c.4928C>T (p.Pro1643Leu)
NM_001846.4(COL4A2):c.4943A>C (p.Glu1648Ala)
NM_001846.4(COL4A2):c.4952G>A (p.Arg1651His)
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.4984C>T (p.Arg1662Cys)
NM_001846.4(COL4A2):c.4989C>T (p.Gly1663=)
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val) rs200430407
NM_001846.4(COL4A2):c.49C>T (p.Leu17=) rs200430407
NM_001846.4(COL4A2):c.4G>C (p.Gly2Arg) rs752976373
NM_001846.4(COL4A2):c.5004C>G (p.Tyr1668Ter)
NM_001846.4(COL4A2):c.5004C>T (p.Tyr1668=)
NM_001846.4(COL4A2):c.5005G>A (p.Ala1669Thr) rs199959120
NM_001846.4(COL4A2):c.5007CAA[1] (p.Asn1670del) rs781056404
NM_001846.4(COL4A2):c.5032A>G (p.Thr1678Ala)
NM_001846.4(COL4A2):c.5039C>G (p.Pro1680Arg)
NM_001846.4(COL4A2):c.5040C>T (p.Pro1680=)
NM_001846.4(COL4A2):c.5053C>G (p.Gln1685Glu) rs2139564639
NM_001846.4(COL4A2):c.5056G>T (p.Gly1686Cys) rs778961988
NM_001846.4(COL4A2):c.5078T>C (p.Leu1693Pro)
NM_001846.4(COL4A2):c.5086G>A (p.Gly1696Ser)
NM_001846.4(COL4A2):c.5100A>G (p.Thr1700=)
NM_001846.4(COL4A2):c.5103C>T (p.His1701=) rs772344537
NM_001846.4(COL4A2):c.5116C>T (p.Gln1706Ter)
NM_001846.4(COL4A2):c.5122_5138del (p.Cys1708fs) rs1280406576
NM_001846.4(COL4A2):c.5128A>C (p.Lys1710Gln)
NM_001846.4(COL4A2):c.522_525del (p.Pro175fs) rs2139458607
NM_001846.4(COL4A2):c.537C>T (p.Arg179=)
NM_001846.4(COL4A2):c.546T>A (p.Tyr182Ter)
NM_001846.4(COL4A2):c.548G>A (p.Arg183Gln)
NM_001846.4(COL4A2):c.549+124C>T rs143043262
NM_001846.4(COL4A2):c.549+16A>T
NM_001846.4(COL4A2):c.550-6C>T
NM_001846.4(COL4A2):c.551G>T (p.Gly184Val) rs1555328401
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.577G>A (p.Gly193Ser)
NM_001846.4(COL4A2):c.579T>C (p.Gly193=)
NM_001846.4(COL4A2):c.585+4A>C
NM_001846.4(COL4A2):c.585+8T>C
NM_001846.4(COL4A2):c.586-16C>T
NM_001846.4(COL4A2):c.595G>A (p.Gly199Ser)
NM_001846.4(COL4A2):c.597C>T (p.Gly199=)
NM_001846.4(COL4A2):c.605G>A (p.Gly202Glu)
NM_001846.4(COL4A2):c.60G>T (p.Gly20=)
NM_001846.4(COL4A2):c.643A>G (p.Arg215Gly)
NM_001846.4(COL4A2):c.644G>A (p.Arg215Lys)
NM_001846.4(COL4A2):c.649-12G>A
NM_001846.4(COL4A2):c.656C>T (p.Pro219Leu)
NM_001846.4(COL4A2):c.661C>A (p.Pro221Thr)
NM_001846.4(COL4A2):c.685-160A>T rs74639154
NM_001846.4(COL4A2):c.690C>G (p.Asn230Lys)
NM_001846.4(COL4A2):c.6G>T (p.Gly2=)
NM_001846.4(COL4A2):c.726+3A>G rs2139462565
NM_001846.4(COL4A2):c.726+4A>G rs2139462568
NM_001846.4(COL4A2):c.726G>A (p.Lys242=) rs1463099199
NM_001846.4(COL4A2):c.727-139_727-137del rs143189600
NM_001846.4(COL4A2):c.727-5T>C
NM_001846.4(COL4A2):c.727-8A>G
NM_001846.4(COL4A2):c.734T>C (p.Val245Ala) rs746759612
NM_001846.4(COL4A2):c.734T>G (p.Val245Gly)
NM_001846.4(COL4A2):c.743C>T (p.Pro248Leu)
NM_001846.4(COL4A2):c.750C>T (p.Pro250=)
NM_001846.4(COL4A2):c.786C>T (p.Ile262=)
NM_001846.4(COL4A2):c.788C>T (p.Ala263Val)
NM_001846.4(COL4A2):c.799del (p.Val267fs)
NM_001846.4(COL4A2):c.812C>T (p.Pro271Leu)
NM_001846.4(COL4A2):c.825+14T>C
NM_001846.4(COL4A2):c.825+156G>T rs4771679
NM_001846.4(COL4A2):c.825+1G>A
NM_001846.4(COL4A2):c.825+5A>T
NM_001846.4(COL4A2):c.826-13A>G
NM_001846.4(COL4A2):c.826-1G>T
NM_001846.4(COL4A2):c.826-9T>G
NM_001846.4(COL4A2):c.827G>T (p.Gly276Val) rs372917662
NM_001846.4(COL4A2):c.829G>A (p.Glu277Lys)
NM_001846.4(COL4A2):c.838A>G (p.Ser280Gly)
NM_001846.4(COL4A2):c.83C>T (p.Ala28Val)
NM_001846.4(COL4A2):c.841G>A (p.Glu281Lys)
NM_001846.4(COL4A2):c.861+14T>C
NM_001846.4(COL4A2):c.861+17G>A
NM_001846.4(COL4A2):c.861+272A>G rs7983126
NM_001846.4(COL4A2):c.861+8G>T
NM_001846.4(COL4A2):c.862-15T>A
NM_001846.4(COL4A2):c.862-231G>A rs9559799
NM_001846.4(COL4A2):c.862-41G>A rs7984100
NM_001846.4(COL4A2):c.862-41G>T rs7984100
NM_001846.4(COL4A2):c.862G>A (p.Gly288Ser)
NM_001846.4(COL4A2):c.863G>T (p.Gly288Val)
NM_001846.4(COL4A2):c.882A>T (p.Glu294Asp) rs2139467210
NM_001846.4(COL4A2):c.883G>T (p.Glu295Ter)
NM_001846.4(COL4A2):c.900T>A (p.Phe300Leu)
NM_001846.4(COL4A2):c.904G>A (p.Gly302Arg)
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+143_912+144insTCCAC rs372770020
NM_001846.4(COL4A2):c.912+143_912+144insTCCACAC rs372770020
NM_001846.4(COL4A2):c.912+143dup rs1197981980
NM_001846.4(COL4A2):c.912+18T>C
NM_001846.4(COL4A2):c.912+18T>G
NM_001846.4(COL4A2):c.913-1G>A rs1064797180
NM_001846.4(COL4A2):c.919C>G (p.Pro307Ala)
NM_001846.4(COL4A2):c.921T>C (p.Pro307=)
NM_001846.4(COL4A2):c.92T>C (p.Val31Ala)
NM_001846.4(COL4A2):c.930T>A (p.Ser310Arg)
NM_001846.4(COL4A2):c.930T>C (p.Ser310=)
NM_001846.4(COL4A2):c.934G>T (p.Glu312Ter)
NM_001846.4(COL4A2):c.940G>C (p.Gly314Arg)
NM_001846.4(COL4A2):c.941G>A (p.Gly314Glu)
NM_001846.4(COL4A2):c.941G>T (p.Gly314Val)
NM_001846.4(COL4A2):c.953A>G (p.Gln318Arg)
NM_001846.4(COL4A2):c.953A>T (p.Gln318Leu)
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.976G>A (p.Gly326Ser)
NM_001846.4(COL4A2):c.980A>G (p.Tyr327Cys) rs1881300877
NM_001846.4(COL4A2):c.985G>A (p.Gly329Arg)
NM_001846.4(COL4A2):c.988C>T (p.Pro330Ser)
NM_001846.4(COL4A2):c.99+19G>T

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.