ClinVar Miner

List of variants in gene COL4A1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1844
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HGVS dbSNP gnomAD frequency
NM_001845.6(COL4A1):c.1663= (p.Pro555=) rs536174 0.99999
NM_001845.6(COL4A1):c.780+60T>C rs598819 0.97967
NM_001845.6(COL4A1):c.858+240G>A rs630487 0.97888
NM_001845.6(COL4A1):c.4755+156A>G rs615742 0.87694
NM_001845.6(COL4A1):c.4755+134A>G rs616089 0.87683
NM_001845.6(COL4A1):c.1285+44A>G rs683309 0.87424
NM_001845.6(COL4A1):c.616-11G>C rs645114 0.84459
NM_001845.6(COL4A1):c.4756-209C>T rs681884 0.76715
NM_001845.6(COL4A1):c.1382-54C>T rs685884 0.71178
NM_001845.6(COL4A1):c.1382-245G>A rs686746 0.69858
NM_001845.6(COL4A1):c.1465+134T>C rs490727 0.69561
NM_001845.6(COL4A1):c.958-317G>A rs645098 0.68049
NM_001845.6(COL4A1):c.1897+86T>C rs565470 0.67920
NM_001845.6(COL4A1):c.957+198T>C rs665713 0.65749
NM_001845.6(COL4A1):c.3949+48T>C rs652572 0.65121
NM_001845.6(COL4A1):c.3877-9C>T rs589985 0.63996
NM_001845.6(COL4A1):c.3949+143T>C rs1213026 0.61667
NM_001845.6(COL4A1):c.3949+45C>T rs1778817 0.61514
NM_001845.6(COL4A1):c.4021+247G>C rs616463 0.59870
NM_001845.6(COL4A1):c.859-10T>C rs677877 0.57082
NM_001845.6(COL4A1):c.903+18G>A rs482757 0.56804
NM_001845.6(COL4A1):c.780+216C>G rs587596 0.56778
NM_001845.6(COL4A1):c.780+7G>A rs598893 0.56762
NM_001845.6(COL4A1):c.999+306G>C rs537532 0.56642
NM_001845.6(COL4A1):c.958-226T>C rs648735 0.56511
NM_001845.6(COL4A1):c.958-199T>G rs648705 0.56436
NM_001845.6(COL4A1):c.4022-304T>C rs56281756 0.54573
NM_001845.6(COL4A1):c.4022-328T>C rs59504364 0.54534
NM_001845.6(COL4A1):c.3557-261C>T rs9588107 0.53383
NM_001845.6(COL4A1):c.388-127A>G rs626444 0.52151
NM_001845.6(COL4A1):c.3876+142C>T rs1838557 0.51411
NM_001845.6(COL4A1):c.432T>A (p.Ala144=) rs532625 0.42890
NM_001845.6(COL4A1):c.2345-68A>G rs503053 0.41247
NM_001845.6(COL4A1):c.615+59T>G rs2166207 0.40648
NM_001845.6(COL4A1):c.652-207G>A rs9559744 0.40515
NM_001845.6(COL4A1):c.1466-90G>A rs2241967 0.40420
NM_001845.6(COL4A1):c.2095+145G>T rs7329411 0.39266
NM_001845.6(COL4A1):c.1728+57T>C rs9521638 0.39186
NM_001845.6(COL4A1):c.2095+291G>A rs3783111 0.37080
NM_001845.6(COL4A1):c.1897+29A>G rs2305080 0.36061
NM_001845.6(COL4A1):c.4470C>T (p.Ala1490=) rs1133219 0.35362
NM_001845.6(COL4A1):c.3556+93G>C rs2289799 0.34395
NM_001845.6(COL4A1):c.2193+75G>A rs16975491 0.33939
NM_001845.6(COL4A1):c.3199-222A>G rs1000990 0.33918
NM_001845.6(COL4A1):c.2968+51C>T rs1562173 0.33916
NM_001845.6(COL4A1):c.3198+177G>C rs1562174 0.33915
NM_001845.6(COL4A1):c.3199-207A>G rs1000989 0.33883
NM_001845.6(COL4A1):c.3059-211G>A rs1891964 0.33876
NM_001845.6(COL4A1):c.3183G>A (p.Gly1061=) rs874204 0.33827
NM_001845.6(COL4A1):c.3189A>T (p.Arg1063=) rs874203 0.33819
NM_001845.6(COL4A1):c.1121-36C>G rs496916 0.33676
NM_001845.6(COL4A1):c.4150+38C>G rs1816884 0.33505
NM_001845.6(COL4A1):c.3556+244G>A rs2289800 0.32887
NM_001845.6(COL4A1):c.2130G>A (p.Pro710=) rs16975492 0.32653
NM_001845.6(COL4A1):c.279+167G>A rs3737327 0.31463
NM_001845.6(COL4A1):c.279+168T>C rs3737326 0.31400
NM_001845.6(COL4A1):c.1121-58A>G rs995223 0.31285
NM_001845.6(COL4A1):c.1285+291A>G rs10492498 0.29992
NM_001845.6(COL4A1):c.616-197T>C rs7332235 0.27009
NM_001845.6(COL4A1):c.651+68A>G rs7333204 0.26931
NM_001845.6(COL4A1):c.652-105A>G rs12869358 0.26925
NM_001845.6(COL4A1):c.651+179A>G rs7333008 0.26917
NM_001845.6(COL4A1):c.651+69C>T rs7332120 0.26915
NM_001845.6(COL4A1):c.651+88C>T rs61963269 0.26899
NM_001845.6(COL4A1):c.652-158T>A rs12868203 0.26846
NM_001845.6(COL4A1):c.652-180A>T rs12869391 0.26841
NM_001845.6(COL4A1):c.652-185T>A rs12868210 0.26543
NM_001845.6(COL4A1):c.1285+277T>A rs35784668 0.26455
NM_001845.6(COL4A1):c.1257T>C (p.Pro419=) rs995224 0.25994
NM_001845.6(COL4A1):c.615+24C>T rs9521649 0.23777
NM_001845.6(COL4A1):c.85-11T>C rs41275104 0.22726
NM_001845.6(COL4A1):c.279+64G>A rs3737328 0.22663
NM_001845.6(COL4A1):c.1465+117C>T rs9521642 0.22168
NM_001845.6(COL4A1):c.4150+302C>T rs7990499 0.22101
NM_001845.6(COL4A1):c.780+128T>A rs12867220 0.22094
NM_001845.6(COL4A1):c.85-69T>C rs41275106 0.16699
NM_001845.6(COL4A1):c.3877-277A>G rs1470428 0.15502
NM_001845.6(COL4A1):c.4640+231C>T rs77120970 0.14860
NM_001845.6(COL4A1):c.4640+300C>T rs72652096 0.14816
NM_001845.6(COL4A1):c.4640+294C>T rs72652097 0.14809
NM_001845.6(COL4A1):c.4640+16G>A rs2275842 0.14797
NM_001845.6(COL4A1):c.4640+7C>T rs2275843 0.14797
NM_001845.6(COL4A1):c.4463-275G>T rs16975420 0.13900
NM_001845.6(COL4A1):c.234+8C>T rs9521650 0.13807
NM_001845.6(COL4A1):c.84+160T>C rs12429420 0.13673
NM_001845.6(COL4A1):c.4151-189C>G rs2298241 0.13558
NM_001845.6(COL4A1):c.4800C>T (p.Ser1600=) rs650724 0.13448
NM_001845.6(COL4A1):c.2716+99C>T rs2305081 0.12961
NM_001845.6(COL4A1):c.4462+237A>G rs12428089 0.12814
NM_001845.6(COL4A1):c.3557-203A>G rs16975450 0.12549
NM_001845.6(COL4A1):c.4250-134T>C rs16975424 0.11806
NM_001845.6(COL4A1):c.958-140T>A rs7327728 0.11568
NM_001845.6(COL4A1):c.469-127C>T rs2166208 0.10800
NM_001845.6(COL4A1):c.1991-16G>A rs72654112 0.10351
NM_001845.6(COL4A1):c.2194-69C>T rs2131939 0.09298
NM_001845.6(COL4A1):c.3876+102A>G rs59694732 0.09138
NM_001845.6(COL4A1):c.1382-205C>T rs79557548 0.09044
NM_001845.6(COL4A1):c.469-273_469-272insG rs139549326 0.08797
NM_001845.6(COL4A1):c.615+242G>A rs77370634 0.08426
NM_001845.6(COL4A1):c.1815T>C (p.Pro605=) rs61749897 0.07832
NM_001845.6(COL4A1):c.3406+122C>T rs639411 0.07763
NM_001845.6(COL4A1):c.3407-54G>A rs630968 0.07747
NM_001845.6(COL4A1):c.2194-98A>G rs10492497 0.07589
NM_001845.6(COL4A1):c.615+166G>A rs41275098 0.07274
NM_001845.6(COL4A1):c.3557-99C>T rs2275845 0.06663
NM_001845.6(COL4A1):c.2459-260C>T rs687368 0.06216
NM_001845.6(COL4A1):c.279+248T>C rs3737325 0.05430
NM_001845.6(COL4A1):c.616-215A>G rs9559745 0.05005
NM_001845.6(COL4A1):c.3506-211T>C rs682491 0.04510
NM_001845.6(COL4A1):c.3059-133A>G rs73609576 0.04154
NM_001845.6(COL4A1):c.2096-269A>G rs73611415 0.04032
NM_001845.6(COL4A1):c.2193+268C>G rs73611408 0.04028
NM_001845.6(COL4A1):c.145-221C>T rs9521651 0.03748
NM_001845.6(COL4A1):c.1465+58T>C rs17591246 0.03596
NM_001845.6(COL4A1):c.3407-48G>A rs76380326 0.03214
NM_001845.6(COL4A1):c.3059-37T>A rs73609574 0.03212
NM_001845.6(COL4A1):c.2344+84T>C rs480831 0.03204
NM_001845.6(COL4A1):c.4755+170C>T rs77367271 0.02970
NM_001845.6(COL4A1):c.387+243G>C rs11841587 0.02860
NM_001845.6(COL4A1):c.1084+240G>A rs3742205 0.02734
NM_001845.6(COL4A1):c.4928+154G>A rs75273185 0.02543
NM_001845.6(COL4A1):c.1120+120G>A rs78100269 0.02496
NM_001845.6(COL4A1):c.858+20C>T rs73611469 0.02471
NM_001845.6(COL4A1):c.388-168T>C rs11838788 0.02444
NM_001845.6(COL4A1):c.1000-189G>A rs114288890 0.02360
NM_001845.6(COL4A1):c.4756-113G>T rs79439755 0.02303
NM_001845.6(COL4A1):c.958-9C>T rs73611465 0.02279
NM_001845.6(COL4A1):c.651+121C>T rs114487765 0.02257
NM_001845.6(COL4A1):c.1000-199G>A rs144373164 0.02181
NM_001845.6(COL4A1):c.615+159G>A rs7332823 0.02173
NM_001845.6(COL4A1):c.693+189C>T rs75247120 0.02169
NM_001845.6(COL4A1):c.693+40C>T rs79476579 0.02160
NM_001845.6(COL4A1):c.1000-276T>C rs146115384 0.02151
NM_001845.6(COL4A1):c.235-23A>G rs56294719 0.02130
NM_001845.6(COL4A1):c.1084+5C>G rs74508743 0.02118
NM_001845.6(COL4A1):c.1084+90C>T rs114047868 0.02116
NM_001845.6(COL4A1):c.388-170T>C rs79824508 0.02110
NM_001845.6(COL4A1):c.3557-308A>C rs677858 0.02087
NM_001845.6(COL4A1):c.3506-157G>A rs682881 0.02072
NM_001845.6(COL4A1):c.3506-213G>A rs615731 0.02071
NM_001845.6(COL4A1):c.651+119A>C rs114198011 0.02046
NM_001845.6(COL4A1):c.442-48A>G rs73611484 0.02039
NM_001845.6(COL4A1):c.693+185A>G rs73611475 0.02039
NM_001845.6(COL4A1):c.441+34del rs144567976 0.02022
NM_001845.6(COL4A1):c.4928+68G>A rs8000795 0.01871
NM_001845.6(COL4A1):c.3950-78A>G rs9588106 0.01868
NM_001845.6(COL4A1):c.2458+207dup rs58452196 0.01720
NM_001845.6(COL4A1):c.4462+151C>T rs751125 0.01717
NM_001845.6(COL4A1):c.501C>T (p.Pro167=) rs16975612 0.01708
NM_001845.6(COL4A1):c.4151-165del rs146941348 0.01703
NM_001845.6(COL4A1):c.4151-235G>A rs60279490 0.01695
NM_001845.6(COL4A1):c.2716+260G>T rs56896070 0.01626
NM_001845.6(COL4A1):c.1536+251C>T rs73611449 0.01618
NM_001845.6(COL4A1):c.4151-199T>A rs113777564 0.01593
NM_001845.6(COL4A1):c.3198+170C>G rs61661904 0.01592
NM_001845.6(COL4A1):c.3506-180T>C rs75079832 0.01542
NM_001845.6(COL4A1):c.2124G>A (p.Gly708=) rs78426988 0.01512
NM_001845.6(COL4A1):c.4641-191C>T rs7998488 0.01355
NM_001845.6(COL4A1):c.2459-209G>A rs149605687 0.01274
NM_001845.6(COL4A1):c.999+145C>T rs16975589 0.01184
NM_001845.6(COL4A1):c.1000-13C>G rs115358624 0.01174
NM_001845.6(COL4A1):c.4929-300T>C rs76762033 0.01127
NM_001845.6(COL4A1):c.4928+205A>G rs1808996 0.01099
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_001845.6(COL4A1):c.2459-34T>C rs138277123 0.01057
NM_001845.6(COL4A1):c.468+115A>G rs141177872 0.00943
NM_001845.6(COL4A1):c.442-88A>G rs115723247 0.00894
NM_001845.6(COL4A1):c.781-129G>A rs114159891 0.00884
NM_001845.6(COL4A1):c.1285+43C>T rs143781394 0.00868
NM_001845.6(COL4A1):c.1285+54C>T rs148032432 0.00865
NM_001845.6(COL4A1):c.4005C>T (p.Gly1335=) rs140722653 0.00856
NM_001845.6(COL4A1):c.2096-24T>G rs77875306 0.00849
NM_001845.6(COL4A1):c.145-203C>T rs143497916 0.00840
NM_001845.6(COL4A1):c.3996C>T (p.Gly1332=) rs150857429 0.00816
NM_001845.6(COL4A1):c.3693G>A (p.Thr1231=) rs117738194 0.00782
NM_001845.6(COL4A1):c.858+94G>A rs147824841 0.00757
NM_001845.6(COL4A1):c.3505+187G>T rs148558362 0.00730
NM_001845.6(COL4A1):c.4640+51C>T rs3825480 0.00694
NM_001845.6(COL4A1):c.145-145G>A rs139545645 0.00672
NM_001845.6(COL4A1):c.4640+8G>A rs117566874 0.00671
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_001845.6(COL4A1):c.4755+153C>G rs142556085 0.00617
NM_001845.6(COL4A1):c.1084+48C>G rs141469904 0.00546
NM_001845.6(COL4A1):c.393G>A (p.Glu131=) rs34458255 0.00546
NM_001845.6(COL4A1):c.1729-91A>T rs116821113 0.00538
NM_001845.6(COL4A1):c.999+276A>G rs192866980 0.00529
NM_001845.6(COL4A1):c.4203C>T (p.Asp1401=) rs141714960 0.00519
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_001845.6(COL4A1):c.1701G>A (p.Pro567=) rs146480068 0.00458
NM_001845.6(COL4A1):c.693+125A>T rs138970497 0.00409
NM_001845.6(COL4A1):c.859-22C>T rs114434129 0.00404
NM_001845.6(COL4A1):c.279+103A>G rs552453147 0.00389
NM_001845.6(COL4A1):c.4756-184G>T rs552170022 0.00386
NM_001845.6(COL4A1):c.694-197T>G rs9583466 0.00386
NM_001845.6(COL4A1):c.469-223G>A rs186765111 0.00367
NM_001845.6(COL4A1):c.4756-59T>A rs145955010 0.00364
NM_001845.6(COL4A1):c.3407-172T>C rs114503052 0.00360
NM_001845.6(COL4A1):c.911C>T (p.Pro304Leu) rs34843786 0.00357
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_001845.6(COL4A1):c.1537-294C>T rs139989910 0.00324
NM_001845.6(COL4A1):c.4755+18C>T rs191620431 0.00315
NM_001845.6(COL4A1):c.161C>T (p.Pro54Leu) rs34004222 0.00274
NM_001845.6(COL4A1):c.4250-43C>T rs12585906 0.00237
NM_001845.6(COL4A1):c.-103G>A rs538721412 0.00227
NM_001845.6(COL4A1):c.4941G>A (p.Pro1647=) rs115834242 0.00215
NM_001845.6(COL4A1):c.4056C>T (p.Tyr1352=) rs140210015 0.00194
NM_001845.6(COL4A1):c.2647G>A (p.Val883Ile) rs41275090 0.00180
NM_001845.6(COL4A1):c.1000-5T>G rs75711155 0.00155
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001845.6(COL4A1):c.1898-46G>A rs41275094 0.00141
NM_001845.6(COL4A1):c.3877-8G>A rs370539477 0.00124
NM_001845.6(COL4A1):c.904-9C>T rs201481886 0.00116
NM_001845.6(COL4A1):c.3506-7C>G rs377592935 0.00105
NM_001845.6(COL4A1):c.651+4_651+5insCAC rs760194800 0.00087
NM_001845.6(COL4A1):c.2502T>G (p.Pro834=) rs147764548 0.00083
NM_001845.6(COL4A1):c.2392G>C (p.Val798Leu) rs146950993 0.00076
NM_001845.6(COL4A1):c.1494C>T (p.Gly498=) rs149046219 0.00073
NM_001845.6(COL4A1):c.616-31T>C rs77622402 0.00072
NM_001845.6(COL4A1):c.2542C>G (p.Gln848Glu) rs144207910 0.00068
NM_001845.6(COL4A1):c.4229T>C (p.Met1410Thr) rs200734000 0.00061
NM_001845.6(COL4A1):c.957+7G>A rs58908343 0.00057
NM_001845.6(COL4A1):c.2624C>G (p.Pro875Arg) rs201964644 0.00055
NM_001845.6(COL4A1):c.690C>T (p.Asp230=) rs149688210 0.00049
NM_001845.6(COL4A1):c.3198+10G>A rs202002553 0.00048
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001845.6(COL4A1):c.3557-3C>T rs185281604 0.00045
NM_001845.6(COL4A1):c.1534C>T (p.Pro512Ser) rs578161281 0.00042
NM_001845.6(COL4A1):c.633C>T (p.Pro211=) rs144773264 0.00041
NM_001845.6(COL4A1):c.1084+19T>C rs542492789 0.00039
NM_001845.6(COL4A1):c.401C>T (p.Pro134Leu) rs140517831 0.00037
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950 0.00035
NM_001845.6(COL4A1):c.3774T>C (p.Leu1258=) rs139578640 0.00034
NM_001845.6(COL4A1):c.1437C>T (p.Pro479=) rs151186561 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001845.6(COL4A1):c.1735G>A (p.Val579Ile) rs141527136 0.00031
NM_001845.6(COL4A1):c.3288A>G (p.Pro1096=) rs2305082 0.00030
NM_001845.6(COL4A1):c.387+14C>T rs190238481 0.00030
NM_001845.6(COL4A1):c.3949+6A>G rs374341500 0.00030
NM_001845.6(COL4A1):c.780+29del rs376694563 0.00030
NM_001845.6(COL4A1):c.477A>T (p.Pro159=) rs141067230 0.00029
NM_001845.6(COL4A1):c.367C>T (p.Pro123Ser) rs138503916 0.00028
NM_001845.6(COL4A1):c.966G>A (p.Lys322=) rs372969177 0.00026
NM_001845.6(COL4A1):c.2007C>T (p.Pro669=) rs145645897 0.00025
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_001845.6(COL4A1):c.3742+14G>A rs377503687 0.00025
NM_001845.6(COL4A1):c.388-11T>C rs201801894 0.00024
NM_001845.6(COL4A1):c.831A>G (p.Lys277=) rs140978802 0.00024
NM_001845.6(COL4A1):c.553-8C>T rs199534388 0.00022
NM_001845.6(COL4A1):c.781-12G>A rs202198648 0.00022
NM_001845.6(COL4A1):c.2093A>G (p.Lys698Arg) rs375318302 0.00021
NM_001845.6(COL4A1):c.329T>C (p.Ile110Thr) rs138269346 0.00021
NM_001845.6(COL4A1):c.1820G>T (p.Gly607Val) rs148781420 0.00020
NM_001845.6(COL4A1):c.3946C>G (p.Gln1316Glu) rs377122126 0.00020
NM_001845.6(COL4A1):c.4250-12C>T rs202055679 0.00020
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524 0.00019
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_001845.6(COL4A1):c.4756-22_4756-5dup rs778511113 0.00017
NM_001845.6(COL4A1):c.958-4del rs773018457 0.00017
NM_001845.6(COL4A1):c.1187G>A (p.Arg396Gln) rs138266832 0.00016
NM_001845.6(COL4A1):c.1725G>A (p.Ser575=) rs370332353 0.00016
NM_001845.6(COL4A1):c.3750G>A (p.Pro1250=) rs372343245 0.00016
NM_001845.6(COL4A1):c.4463-15T>C rs573385917 0.00016
NM_001845.6(COL4A1):c.1753C>T (p.Arg585Cys) rs374223828 0.00015
NM_001845.6(COL4A1):c.3170T>C (p.Ile1057Thr) rs569940067 0.00015
NM_001845.6(COL4A1):c.3712C>T (p.Arg1238Cys) rs148801165 0.00015
NM_001845.6(COL4A1):c.807+3C>T rs192723236 0.00015
NM_001845.6(COL4A1):c.1454C>T (p.Pro485Leu) rs142177702 0.00014
NM_001845.6(COL4A1):c.4151-20T>C rs112561721 0.00014
NM_001845.6(COL4A1):c.4845G>A (p.Glu1615=) rs142326550 0.00014
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001845.6(COL4A1):c.1419C>T (p.Asp473=) rs140440365 0.00012
NM_001845.6(COL4A1):c.145-9C>G rs757343809 0.00012
NM_001845.6(COL4A1):c.2560A>G (p.Thr854Ala) rs756949024 0.00012
NM_001845.6(COL4A1):c.2968+12A>G rs752476229 0.00012
NM_001845.6(COL4A1):c.606C>T (p.Thr202=) rs754333091 0.00012
NM_001845.6(COL4A1):c.1881A>G (p.Gly627=) rs202093478 0.00011
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776 0.00011
NM_001845.6(COL4A1):c.2316C>T (p.Ile772=) rs377593990 0.00011
NM_001845.6(COL4A1):c.4446C>T (p.Ala1482=) rs137870576 0.00011
NM_001845.6(COL4A1):c.280-12C>T rs200121908 0.00010
NM_001845.6(COL4A1):c.4463-405A>G rs533145484 0.00010
NM_001845.6(COL4A1):c.2285T>C (p.Val762Ala) rs374930028 0.00009
NM_001845.6(COL4A1):c.280-11C>T rs377299204 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001845.6(COL4A1):c.2955G>C (p.Gln985His) rs145018661 0.00009
NM_001845.6(COL4A1):c.3742+14dup rs761797795 0.00009
NM_001845.6(COL4A1):c.405C>T (p.Leu135=) rs138888319 0.00009
NM_001845.6(COL4A1):c.4150+3G>A rs545498227 0.00009
NM_001845.6(COL4A1):c.4755+3A>G rs570472326 0.00009
NM_001845.6(COL4A1):c.2447C>T (p.Pro816Leu) rs781249721 0.00008
NM_001845.6(COL4A1):c.2869+6T>C rs557198622 0.00008
NM_001845.6(COL4A1):c.3477G>A (p.Pro1159=) rs542472655 0.00008
NM_001845.6(COL4A1):c.3714C>T (p.Arg1238=) rs377765047 0.00008
NM_001845.6(COL4A1):c.4441C>T (p.Arg1481Trp) rs199586038 0.00008
NM_001845.6(COL4A1):c.502G>A (p.Gly168Arg) rs144171664 0.00008
NM_001845.6(COL4A1):c.1545A>T (p.Gln515His) rs144950610 0.00007
NM_001845.6(COL4A1):c.2085C>T (p.Pro695=) rs377505775 0.00007
NM_001845.6(COL4A1):c.2641A>G (p.Met881Val) rs775563545 0.00007
NM_001845.6(COL4A1):c.3198+16C>T rs768685175 0.00007
NM_001845.6(COL4A1):c.4442G>A (p.Arg1481Gln) rs376607450 0.00007
NM_001845.6(COL4A1):c.4449T>C (p.His1483=) rs777962282 0.00007
NM_001845.6(COL4A1):c.4658C>T (p.Ala1553Val) rs201150281 0.00007
NM_001845.6(COL4A1):c.4716C>T (p.Ser1572=) rs200290773 0.00007
NM_001845.6(COL4A1):c.4882G>A (p.Ala1628Thr) rs144201848 0.00007
NM_001845.6(COL4A1):c.1427G>A (p.Arg476Gln) rs376673751 0.00006
NM_001845.6(COL4A1):c.1858G>C (p.Ala620Pro) rs372803920 0.00006
NM_001845.6(COL4A1):c.1929T>C (p.Pro643=) rs142883141 0.00006
NM_001845.6(COL4A1):c.3164C>T (p.Pro1055Leu) rs375787099 0.00006
NM_001845.6(COL4A1):c.324+20T>C rs764072918 0.00006
NM_001845.6(COL4A1):c.3561A>G (p.Ser1187=) rs192470284 0.00006
NM_001845.6(COL4A1):c.3615C>G (p.Ser1205=) rs145903540 0.00006
NM_001845.6(COL4A1):c.3877-30C>A rs367688295 0.00006
NM_001845.6(COL4A1):c.4608C>T (p.Ile1536=) rs377100994 0.00006
NM_001845.6(COL4A1):c.4677C>T (p.Ala1559=) rs374343679 0.00006
NM_001845.6(COL4A1):c.234+9G>A rs374115295 0.00005
NM_001845.6(COL4A1):c.2716+16A>G rs767749066 0.00005
NM_001845.6(COL4A1):c.4045C>T (p.Pro1349Ser) rs761077330 0.00005
NM_001845.6(COL4A1):c.469-13C>G rs774901853 0.00005
NM_001845.6(COL4A1):c.4756-14C>T rs375486886 0.00005
NM_001845.6(COL4A1):c.1108C>T (p.Pro370Ser) rs773419047 0.00004
NM_001845.6(COL4A1):c.1110C>T (p.Pro370=) rs368143409 0.00004
NM_001845.6(COL4A1):c.1246C>G (p.Pro416Ala) rs773191976 0.00004
NM_001845.6(COL4A1):c.1402C>T (p.Leu468Phe) rs757163211 0.00004
NM_001845.6(COL4A1):c.1420G>A (p.Gly474Arg) rs752346924 0.00004
NM_001845.6(COL4A1):c.1754G>A (p.Arg585His) rs754034347 0.00004
NM_001845.6(COL4A1):c.2001C>G (p.Gly667=) rs954535100 0.00004
NM_001845.6(COL4A1):c.2046C>T (p.Gly682=) rs749164494 0.00004
NM_001845.6(COL4A1):c.2096-20T>G rs754248236 0.00004
NM_001845.6(COL4A1):c.2103C>T (p.Asp701=) rs561116319 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001845.6(COL4A1):c.2490C>T (p.Phe830=) rs750159255 0.00004
NM_001845.6(COL4A1):c.2704C>T (p.Pro902Ser) rs779350720 0.00004
NM_001845.6(COL4A1):c.2940C>T (p.Asp980=) rs568279107 0.00004
NM_001845.6(COL4A1):c.3019C>T (p.Pro1007Ser) rs141418421 0.00004
NM_001845.6(COL4A1):c.309A>C (p.Gly103=) rs752108960 0.00004
NM_001845.6(COL4A1):c.3216G>A (p.Ala1072=) rs188620231 0.00004
NM_001845.6(COL4A1):c.342C>T (p.Asp114=) rs757542907 0.00004
NM_001845.6(COL4A1):c.3743-15C>T rs375583789 0.00004
NM_001845.6(COL4A1):c.3997G>A (p.Asp1333Asn) rs141395813 0.00004
NM_001845.6(COL4A1):c.4010C>T (p.Pro1337Leu) rs189728415 0.00004
NM_001845.6(COL4A1):c.4038T>C (p.Pro1346=) rs372556002 0.00004
NM_001845.6(COL4A1):c.4071G>A (p.Gly1357=) rs769532281 0.00004
NM_001845.6(COL4A1):c.429C>T (p.Phe143=) rs774650505 0.00004
NM_001845.6(COL4A1):c.441C>T (p.Pro147=) rs201812821 0.00004
NM_001845.6(COL4A1):c.4640+3G>T rs770167198 0.00004
NM_001845.6(COL4A1):c.4659G>A (p.Ala1553=) rs141072338 0.00004
NM_001845.6(COL4A1):c.4824T>C (p.Phe1608=) rs140661222 0.00004
NM_001845.6(COL4A1):c.56A>T (p.His19Leu) rs1456821193 0.00004
NM_001845.6(COL4A1):c.762C>T (p.Phe254=) rs145029443 0.00004
NM_001845.6(COL4A1):c.858+4A>T rs916106593 0.00004
NM_001845.6(COL4A1):c.1000-8C>T rs199822852 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001845.6(COL4A1):c.1382-16G>C rs1473270325 0.00003
NM_001845.6(COL4A1):c.1426C>T (p.Arg476Trp) rs369960952 0.00003
NM_001845.6(COL4A1):c.1465+14G>A rs778949191 0.00003
NM_001845.6(COL4A1):c.1613G>A (p.Arg538Gln) rs147361934 0.00003
NM_001845.6(COL4A1):c.1885C>G (p.Pro629Ala) rs769408707 0.00003
NM_001845.6(COL4A1):c.2147C>T (p.Pro716Leu) rs199961869 0.00003
NM_001845.6(COL4A1):c.2216C>T (p.Pro739Leu) rs778390847 0.00003
NM_001845.6(COL4A1):c.2333A>G (p.Gln778Arg) rs750620293 0.00003
NM_001845.6(COL4A1):c.2448G>A (p.Pro816=) rs144401828 0.00003
NM_001845.6(COL4A1):c.2862A>G (p.Gly954=) rs373590636 0.00003
NM_001845.6(COL4A1):c.3144G>T (p.Glu1048Asp) rs368949397 0.00003
NM_001845.6(COL4A1):c.3285C>T (p.Ser1095=) rs267603751 0.00003
NM_001845.6(COL4A1):c.3431C>G (p.Thr1144Arg) rs769021800 0.00003
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482 0.00003
NM_001845.6(COL4A1):c.3899T>C (p.Ile1300Thr) rs758276496 0.00003
NM_001845.6(COL4A1):c.4022-12C>T rs749099291 0.00003
NM_001845.6(COL4A1):c.4029G>A (p.Pro1343=) rs540983592 0.00003
NM_001845.6(COL4A1):c.430G>A (p.Ala144Thr) rs778175625 0.00003
NM_001845.6(COL4A1):c.4332C>T (p.His1444=) rs756069308 0.00003
NM_001845.6(COL4A1):c.4407C>T (p.His1469=) rs149068853 0.00003
NM_001845.6(COL4A1):c.4706C>T (p.Pro1569Leu) rs75885959 0.00003
NM_001845.6(COL4A1):c.4929-9G>A rs756038842 0.00003
NM_001845.6(COL4A1):c.859-8_859del rs1360123079 0.00003
NM_001845.6(COL4A1):c.867C>T (p.Pro289=) rs144143608 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001845.6(COL4A1):c.994G>C (p.Gly332Arg) rs150182714 0.00003
NM_001845.6(COL4A1):c.1056G>A (p.Pro352=) rs531373470 0.00002
NM_001845.6(COL4A1):c.1084+14C>A rs779982115 0.00002
NM_001845.6(COL4A1):c.1239G>A (p.Pro413=) rs572045661 0.00002
NM_001845.6(COL4A1):c.1495G>A (p.Asp499Asn) rs773778552 0.00002
NM_001845.6(COL4A1):c.1656C>T (p.Pro552=) rs576690537 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001845.6(COL4A1):c.1804C>T (p.Pro602Ser) rs769247289 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001845.6(COL4A1):c.1847A>G (p.Asp616Gly) rs756221734 0.00002
NM_001845.6(COL4A1):c.1897+7C>G rs773791331 0.00002
NM_001845.6(COL4A1):c.196C>A (p.Gln66Lys) rs751220553 0.00002
NM_001845.6(COL4A1):c.1990+4C>T rs771634502 0.00002
NM_001845.6(COL4A1):c.2028C>A (p.Gly676=) rs778947922 0.00002
NM_001845.6(COL4A1):c.204T>A (p.Pro68=) rs370425696 0.00002
NM_001845.6(COL4A1):c.2232G>T (p.Leu744Phe) rs368539530 0.00002
NM_001845.6(COL4A1):c.2244C>T (p.Pro748=) rs755340790 0.00002
NM_001845.6(COL4A1):c.2262C>T (p.Pro754=) rs750538499 0.00002
NM_001845.6(COL4A1):c.2284G>A (p.Val762Ile) rs775341305 0.00002
NM_001845.6(COL4A1):c.2313G>A (p.Ala771=) rs781701888 0.00002
NM_001845.6(COL4A1):c.2397A>G (p.Pro799=) rs1274572221 0.00002
NM_001845.6(COL4A1):c.2571G>A (p.Ser857=) rs376513801 0.00002
NM_001845.6(COL4A1):c.2716+17C>T rs564267894 0.00002
NM_001845.6(COL4A1):c.2968+3A>G rs1455733602 0.00002
NM_001845.6(COL4A1):c.3097C>T (p.Pro1033Ser) rs373131870 0.00002
NM_001845.6(COL4A1):c.3198+17G>A rs191628245 0.00002
NM_001845.6(COL4A1):c.324C>A (p.Pro108=) rs61759487 0.00002
NM_001845.6(COL4A1):c.348G>A (p.Pro116=) rs760602242 0.00002
NM_001845.6(COL4A1):c.3671C>T (p.Pro1224Leu) rs775810147 0.00002
NM_001845.6(COL4A1):c.3831C>T (p.Pro1277=) rs779198670 0.00002
NM_001845.6(COL4A1):c.3950-18C>G rs760245108 0.00002
NM_001845.6(COL4A1):c.4134C>A (p.Gly1378=) rs1250683195 0.00002
NM_001845.6(COL4A1):c.442-10T>C rs1400870120 0.00002
NM_001845.6(COL4A1):c.4425C>T (p.Tyr1475=) rs772482135 0.00002
NM_001845.6(COL4A1):c.4839C>T (p.Phe1613=) rs987149771 0.00002
NM_001845.6(COL4A1):c.4929-10C>T rs369534245 0.00002
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met) rs779139113 0.00002
NM_001845.6(COL4A1):c.532C>T (p.Pro178Ser) rs777678272 0.00002
NM_001845.6(COL4A1):c.651+16del rs776138958 0.00002
NM_001845.6(COL4A1):c.694-13T>G rs1324574151 0.00002
NM_001845.6(COL4A1):c.694-5G>A rs762644478 0.00002
NM_001845.6(COL4A1):c.852A>G (p.Gly284=) rs1440967031 0.00002
NM_001845.6(COL4A1):c.957+6C>T rs754165294 0.00002
NM_001845.6(COL4A1):c.999+19C>T rs150363767 0.00002
NM_001845.6(COL4A1):c.1091C>T (p.Pro364Leu) rs755483519 0.00001
NM_001845.6(COL4A1):c.1121-17C>T rs753949151 0.00001
NM_001845.6(COL4A1):c.1142C>T (p.Ala381Val) rs1200679947 0.00001
NM_001845.6(COL4A1):c.115T>C (p.Cys39Arg) rs1476577463 0.00001
NM_001845.6(COL4A1):c.1226G>A (p.Arg409Lys) rs747707990 0.00001
NM_001845.6(COL4A1):c.1238C>T (p.Pro413Leu) rs758969549 0.00001
NM_001845.6(COL4A1):c.1270C>A (p.Gln424Lys) rs199622845 0.00001
NM_001845.6(COL4A1):c.13C>T (p.Leu5Phe) rs1466736813 0.00001
NM_001845.6(COL4A1):c.144+6T>G rs1470875848 0.00001
NM_001845.6(COL4A1):c.145-5T>C rs749251030 0.00001
NM_001845.6(COL4A1):c.1461A>G (p.Glu487=) rs1878700909 0.00001
NM_001845.6(COL4A1):c.1466-18C>T rs777144964 0.00001
NM_001845.6(COL4A1):c.1466-8C>T rs370479261 0.00001
NM_001845.6(COL4A1):c.1536+568C>T rs1878631993 0.00001
NM_001845.6(COL4A1):c.1672G>A (p.Ala558Thr) rs1878441079 0.00001
NM_001845.6(COL4A1):c.1673C>T (p.Ala558Val) rs200252122 0.00001
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys) rs375477517 0.00001
NM_001845.6(COL4A1):c.1704T>G (p.Gly568=) rs1276637254 0.00001
NM_001845.6(COL4A1):c.1772T>C (p.Val591Ala) rs759892475 0.00001
NM_001845.6(COL4A1):c.1869T>C (p.Pro623=) rs774022034 0.00001
NM_001845.6(COL4A1):c.1887A>G (p.Pro629=) rs201109030 0.00001
NM_001845.6(COL4A1):c.1990+7T>C rs773725275 0.00001
NM_001845.6(COL4A1):c.2080C>T (p.Pro694Ser) rs760462654 0.00001
NM_001845.6(COL4A1):c.2095+7C>G rs886049961 0.00001
NM_001845.6(COL4A1):c.2199G>A (p.Glu733=) rs371514041 0.00001
NM_001845.6(COL4A1):c.2201C>G (p.Pro734Arg) rs527530568 0.00001
NM_001845.6(COL4A1):c.2214A>G (p.Leu738=) rs745425109 0.00001
NM_001845.6(COL4A1):c.2248A>G (p.Ile750Val) rs1199996506 0.00001
NM_001845.6(COL4A1):c.2314A>T (p.Ile772Phe) rs755499333 0.00001
NM_001845.6(COL4A1):c.234+7A>G rs1339538900 0.00001
NM_001845.6(COL4A1):c.2344+11G>A rs886049960 0.00001
NM_001845.6(COL4A1):c.2344+12C>A rs373696600 0.00001
NM_001845.6(COL4A1):c.2458+2T>C rs1436175370 0.00001
NM_001845.6(COL4A1):c.2516C>T (p.Pro839Leu) rs763434858 0.00001
NM_001845.6(COL4A1):c.2517G>A (p.Pro839=) rs773443475 0.00001
NM_001845.6(COL4A1):c.2531A>T (p.Asp844Val) rs368902134 0.00001
NM_001845.6(COL4A1):c.2556C>T (p.Gly852=) rs1474061940 0.00001
NM_001845.6(COL4A1):c.2659C>T (p.Pro887Ser) rs1055161168 0.00001
NM_001845.6(COL4A1):c.2695C>T (p.Pro899Ser) rs1430850146 0.00001
NM_001845.6(COL4A1):c.2706G>A (p.Pro902=) rs754208625 0.00001
NM_001845.6(COL4A1):c.2716+7G>T rs1314153189 0.00001
NM_001845.6(COL4A1):c.2716+9G>C rs756352312 0.00001
NM_001845.6(COL4A1):c.2717-3dup rs748685515 0.00001
NM_001845.6(COL4A1):c.2732C>T (p.Pro911Leu) rs778143775 0.00001
NM_001845.6(COL4A1):c.2823G>A (p.Val941=) rs776485429 0.00001
NM_001845.6(COL4A1):c.2985A>G (p.Pro995=) rs200504781 0.00001
NM_001845.6(COL4A1):c.3008C>T (p.Ala1003Val) rs551365970 0.00001
NM_001845.6(COL4A1):c.3021G>A (p.Pro1007=) rs148308759 0.00001
NM_001845.6(COL4A1):c.3054G>A (p.Leu1018=) rs149543327 0.00001
NM_001845.6(COL4A1):c.3161C>T (p.Pro1054Leu) rs758076661 0.00001
NM_001845.6(COL4A1):c.3178C>G (p.Pro1060Ala) rs886044336 0.00001
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter) rs1877827904 0.00001
NM_001845.6(COL4A1):c.3188G>A (p.Arg1063Gln) rs755532903 0.00001
NM_001845.6(COL4A1):c.3223C>T (p.Pro1075Ser) rs780691085 0.00001
NM_001845.6(COL4A1):c.324+16G>A rs770236988 0.00001
NM_001845.6(COL4A1):c.3243G>A (p.Lys1081=) rs934953832 0.00001
NM_001845.6(COL4A1):c.325-11C>A rs1253703820 0.00001
NM_001845.6(COL4A1):c.3267C>T (p.Ile1089=) rs1480113512 0.00001
NM_001845.6(COL4A1):c.3274A>G (p.Met1092Val) rs757670001 0.00001
NM_001845.6(COL4A1):c.3325+10G>A rs761475364 0.00001
NM_001845.6(COL4A1):c.3329G>T (p.Ser1110Ile) rs774198019 0.00001
NM_001845.6(COL4A1):c.3341C>T (p.Pro1114Leu) rs369538377 0.00001
NM_001845.6(COL4A1):c.338A>G (p.Gln113Arg) rs779129339 0.00001
NM_001845.6(COL4A1):c.3492G>A (p.Glu1164=) rs182418518 0.00001
NM_001845.6(COL4A1):c.3505+4del rs749942977 0.00001
NM_001845.6(COL4A1):c.351A>C (p.Pro117=) rs1566378803 0.00001
NM_001845.6(COL4A1):c.3556+11C>T rs1405725836 0.00001
NM_001845.6(COL4A1):c.3581C>T (p.Pro1194Leu) rs372606485 0.00001
NM_001845.6(COL4A1):c.3662C>T (p.Pro1221Leu) rs761859503 0.00001
NM_001845.6(COL4A1):c.3704A>G (p.Lys1235Arg) rs781655700 0.00001
NM_001845.6(COL4A1):c.3713G>A (p.Arg1238His) rs146598127 0.00001
NM_001845.6(COL4A1):c.3832G>A (p.Gly1278Ser) rs757453900 0.00001
NM_001845.6(COL4A1):c.38C>T (p.Pro13Leu) rs1031870898 0.00001
NM_001845.6(COL4A1):c.3915T>G (p.Gly1305=) rs1396040382 0.00001
NM_001845.6(COL4A1):c.3917A>T (p.Asp1306Val) rs1024592088 0.00001
NM_001845.6(COL4A1):c.4021+18T>G rs766901017 0.00001
NM_001845.6(COL4A1):c.4021+3A>G rs778888804 0.00001
NM_001845.6(COL4A1):c.409C>T (p.Pro137Ser) rs148290885 0.00001
NM_001845.6(COL4A1):c.4166T>C (p.Val1389Ala) rs1357289362 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001845.6(COL4A1):c.4249+9C>T rs186028417 0.00001
NM_001845.6(COL4A1):c.4271C>T (p.Pro1424Leu) rs760889798 0.00001
NM_001845.6(COL4A1):c.4305G>T (p.Gly1435=) rs376372101 0.00001
NM_001845.6(COL4A1):c.4333G>A (p.Gly1445Ser) rs752572653 0.00001
NM_001845.6(COL4A1):c.4388G>A (p.Gly1463Glu) rs1057518459 0.00001
NM_001845.6(COL4A1):c.43G>A (p.Ala15Thr) rs991189007 0.00001
NM_001845.6(COL4A1):c.441+1G>A rs1445318211 0.00001
NM_001845.6(COL4A1):c.4410G>A (p.Gly1470=) rs747551299 0.00001
NM_001845.6(COL4A1):c.4423T>C (p.Tyr1475His) rs775952266 0.00001
NM_001845.6(COL4A1):c.4462+3A>G rs201116557 0.00001
NM_001845.6(COL4A1):c.4462+8G>A rs752734207 0.00001
NM_001845.6(COL4A1):c.4560G>A (p.Ser1520=) rs773639086 0.00001
NM_001845.6(COL4A1):c.4640+14C>T rs376675522 0.00001
NM_001845.6(COL4A1):c.4707G>A (p.Pro1569=) rs764244883 0.00001
NM_001845.6(COL4A1):c.4717G>A (p.Gly1573Arg) rs759600848 0.00001
NM_001845.6(COL4A1):c.4728G>A (p.Ser1576=) rs552846696 0.00001
NM_001845.6(COL4A1):c.4756C>T (p.His1586Tyr) rs1876551770 0.00001
NM_001845.6(COL4A1):c.4769G>C (p.Gly1590Ala) rs778082936 0.00001
NM_001845.6(COL4A1):c.4785C>T (p.Gly1595=) rs753054366 0.00001
NM_001845.6(COL4A1):c.4796C>T (p.Ala1599Val) rs766472965 0.00001
NM_001845.6(COL4A1):c.4803C>T (p.Pro1601=) rs190097900 0.00001
NM_001845.6(COL4A1):c.4851C>T (p.His1617=) rs748558670 0.00001
NM_001845.6(COL4A1):c.4856G>A (p.Arg1619His) rs747250117 0.00001
NM_001845.6(COL4A1):c.4881C>T (p.Asn1627=) rs672601348 0.00001
NM_001845.6(COL4A1):c.4888A>T (p.Ser1630Cys) rs1185307528 0.00001
NM_001845.6(COL4A1):c.4903A>G (p.Thr1635Ala) rs1876540287 0.00001
NM_001845.6(COL4A1):c.4940C>T (p.Pro1647Leu) rs201767532 0.00001
NM_001845.6(COL4A1):c.4967G>A (p.Arg1656His) rs756403856 0.00001
NM_001845.6(COL4A1):c.4971G>A (p.Thr1657=) rs139917163 0.00001
NM_001845.6(COL4A1):c.504G>A (p.Gly168=) rs539633643 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001845.6(COL4A1):c.548C>A (p.Thr183Asn) rs926037766 0.00001
NM_001845.6(COL4A1):c.553-10T>C rs370673476 0.00001
NM_001845.6(COL4A1):c.591G>A (p.Gly197=) rs962794235 0.00001
NM_001845.6(COL4A1):c.615+16T>C rs1470589239 0.00001
NM_001845.6(COL4A1):c.651+13T>C rs374764313 0.00001
NM_001845.6(COL4A1):c.651+16A>C rs1566376043 0.00001
NM_001845.6(COL4A1):c.771G>A (p.Lys257=) rs757482570 0.00001
NM_001845.6(COL4A1):c.781-15C>G rs374238056 0.00001
NM_001845.6(COL4A1):c.808-13T>G rs529629733 0.00001
NM_001845.6(COL4A1):c.808-18T>C rs1231816571 0.00001
NM_001845.6(COL4A1):c.85-7C>T rs1049817298 0.00001
NM_001845.6(COL4A1):c.900T>A (p.Ser300Arg) rs370338256 0.00001
NM_001845.6(COL4A1):c.904G>A (p.Gly302Ser) rs144795487 0.00001
GRCh37/hg19 13q34(chr13:110828771-110831768)x1
NC_000013.10:g.(?_110839465)_(110855974_?)del
NC_000013.11:g.(?_110150363)_(110307027_?)dup
NC_000013.11:g.(?_110306924)_(110307047_?)dup
NC_000013.11:g.110212480del
NM_001845.6(COL4A1):c.*31G>A
NM_001845.6(COL4A1):c.*31G>C rs2138415342
NM_001845.6(COL4A1):c.*32G>T rs1876439052
NM_001845.6(COL4A1):c.*35del
NM_001845.6(COL4A1):c.-31_74del (p.Met1_Ala25del)
NM_001845.6(COL4A1):c.-90G>A rs113651836
NM_001845.6(COL4A1):c.1000-19C>G
NM_001845.6(COL4A1):c.1000-2A>G
NM_001845.6(COL4A1):c.1000-7G>A
NM_001845.6(COL4A1):c.1000-7G>C
NM_001845.6(COL4A1):c.1000-7G>T rs762670280
NM_001845.6(COL4A1):c.1000G>T (p.Val334Phe)
NM_001845.6(COL4A1):c.1010C>T (p.Thr337Ile)
NM_001845.6(COL4A1):c.1019T>C (p.Leu340Ser) rs2139191610
NM_001845.6(COL4A1):c.101C>G (p.Ser34Cys)
NM_001845.6(COL4A1):c.101C>T (p.Ser34Phe)
NM_001845.6(COL4A1):c.1021G>C (p.Gly341Arg)
NM_001845.6(COL4A1):c.1022G>C (p.Gly341Ala)
NM_001845.6(COL4A1):c.1025A>T (p.Glu342Val)
NM_001845.6(COL4A1):c.1034A>T (p.Glu345Val)
NM_001845.6(COL4A1):c.1040G>T (p.Gly347Val) rs1566370178
NM_001845.6(COL4A1):c.1042T>C (p.Tyr348His)
NM_001845.6(COL4A1):c.1052dup (p.Pro352fs) rs1555305682
NM_001845.6(COL4A1):c.1056_1073dup (p.Arg355_Pro360dup) rs2139191527
NM_001845.6(COL4A1):c.1059G>A (p.Gly353=)
NM_001845.6(COL4A1):c.1065A>G (p.Arg355=) rs1594575843
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)
NM_001845.6(COL4A1):c.1084+137G>T rs116447150
NM_001845.6(COL4A1):c.1084+20C>A
NM_001845.6(COL4A1):c.1084+20C>T rs756740376
NM_001845.6(COL4A1):c.1084+5C>T rs74508743
NM_001845.6(COL4A1):c.1085-12T>G rs2139190285
NM_001845.6(COL4A1):c.1085-12_1085-9del rs762898342
NM_001845.6(COL4A1):c.1085-16C>G
NM_001845.6(COL4A1):c.1085-16C>T
NM_001845.6(COL4A1):c.1085-18C>T
NM_001845.6(COL4A1):c.1085-19A>T
NM_001845.6(COL4A1):c.1085-20C>G
NM_001845.6(COL4A1):c.1085-2A>G rs1555305593
NM_001845.6(COL4A1):c.1085-4T>C
NM_001845.6(COL4A1):c.1085G>A (p.Gly362Asp) rs2139190267
NM_001845.6(COL4A1):c.1092A>G (p.Pro364=)
NM_001845.6(COL4A1):c.1092A>T (p.Pro364=) rs141208458
NM_001845.6(COL4A1):c.10C>T (p.Arg4Trp)
NM_001845.6(COL4A1):c.1103G>A (p.Gly368Asp)
NM_001845.6(COL4A1):c.1107A>C (p.Gln369His)
NM_001845.6(COL4A1):c.1113A>G (p.Gly371=)
NM_001845.6(COL4A1):c.1115C>T (p.Pro372Leu)
NM_001845.6(COL4A1):c.1120+17G>T
NM_001845.6(COL4A1):c.1121-12G>A
NM_001845.6(COL4A1):c.1121-13T>C
NM_001845.6(COL4A1):c.1121-210T>C rs7318502
NM_001845.6(COL4A1):c.1121-4G>T
NM_001845.6(COL4A1):c.1127C>T (p.Pro376Leu)
NM_001845.6(COL4A1):c.1129G>A (p.Val377Ile) rs2139187481
NM_001845.6(COL4A1):c.1137G>A (p.Gly379=)
NM_001845.6(COL4A1):c.1145G>A (p.Gly382Asp) rs2139187455
NM_001845.6(COL4A1):c.1174G>C (p.Glu392Gln)
NM_001845.6(COL4A1):c.1175A>G (p.Glu392Gly)
NM_001845.6(COL4A1):c.117T>C (p.Cys39=)
NM_001845.6(COL4A1):c.1191A>G (p.Gly397=)
NM_001845.6(COL4A1):c.1194T>C (p.Phe398=)
NM_001845.6(COL4A1):c.119A>T (p.Asp40Val)
NM_001845.6(COL4A1):c.11G>C (p.Arg4Pro)
NM_001845.6(COL4A1):c.1202C>T (p.Thr401Ile)
NM_001845.6(COL4A1):c.1212A>G (p.Pro404=)
NM_001845.6(COL4A1):c.1220G>A (p.Ser407Asn)
NM_001845.6(COL4A1):c.1236C>G (p.Leu412=)
NM_001845.6(COL4A1):c.1236C>T (p.Leu412=)
NM_001845.6(COL4A1):c.1242T>A (p.Gly414=) rs2139187307
NM_001845.6(COL4A1):c.1257_1258inv (p.Gly420Arg)
NM_001845.6(COL4A1):c.125A>G (p.His42Arg)
NM_001845.6(COL4A1):c.1261C>T (p.Pro421Ser)
NM_001845.6(COL4A1):c.1263C>T (p.Pro421=)
NM_001845.6(COL4A1):c.1264C>A (p.Pro422Thr)
NM_001845.6(COL4A1):c.1264C>T (p.Pro422Ser)
NM_001845.6(COL4A1):c.1266T>G (p.Pro422=)
NM_001845.6(COL4A1):c.1272G>A (p.Gln424=) rs1338800071
NM_001845.6(COL4A1):c.1273C>T (p.Pro425Ser)
NM_001845.6(COL4A1):c.1278C>G (p.Gly426=) rs770791698
NM_001845.6(COL4A1):c.1278C>T (p.Gly426=)
NM_001845.6(COL4A1):c.1279T>G (p.Tyr427Asp)
NM_001845.6(COL4A1):c.1285+32G>T
NM_001845.6(COL4A1):c.1285+3del rs2139187206
NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)
NM_001845.6(COL4A1):c.1382-2A>G rs758420618
NM_001845.6(COL4A1):c.1391G>A (p.Gly464Glu)
NM_001845.6(COL4A1):c.1397G>A (p.Ser466Asn)
NM_001845.6(COL4A1):c.1412A>C (p.Asp471Ala)
NM_001845.6(COL4A1):c.1417G>A (p.Asp473Asn)
NM_001845.6(COL4A1):c.1418A>G (p.Asp473Gly)
NM_001845.6(COL4A1):c.1425T>C (p.Tyr475=) rs1594566831
NM_001845.6(COL4A1):c.1432C>T (p.Pro478Ser) rs2139180090
NM_001845.6(COL4A1):c.1438G>A (p.Gly480Arg) rs1461754052
NM_001845.6(COL4A1):c.143A>C (p.Lys48Thr) rs1594082548
NM_001845.6(COL4A1):c.144+10C>T
NM_001845.6(COL4A1):c.144+11G>A
NM_001845.6(COL4A1):c.144+291C>T rs546726924
NM_001845.6(COL4A1):c.144+5206C>A
NM_001845.6(COL4A1):c.144+5206C>T
NM_001845.6(COL4A1):c.144+9C>T
NM_001845.6(COL4A1):c.145-11C>G
NM_001845.6(COL4A1):c.145-15G>T
NM_001845.6(COL4A1):c.145-42_145-19del rs2139207416
NM_001845.6(COL4A1):c.145-4G>A
NM_001845.6(COL4A1):c.145-8T>C
NM_001845.6(COL4A1):c.145-90_145-89insTAT rs146035833
NM_001845.6(COL4A1):c.1450C>G (p.Pro484Ala)
NM_001845.6(COL4A1):c.1450C>T (p.Pro484Ser)
NM_001845.6(COL4A1):c.1451C>A (p.Pro484His)
NM_001845.6(COL4A1):c.1453C>T (p.Pro485Ser) rs747214508
NM_001845.6(COL4A1):c.1455G>A (p.Pro485=)
NM_001845.6(COL4A1):c.1463T>C (p.Ile488Thr)
NM_001845.6(COL4A1):c.1465+100G>A rs7337040
NM_001845.6(COL4A1):c.1465+12A>G
NM_001845.6(COL4A1):c.1465+181T>C rs9515163
NM_001845.6(COL4A1):c.1465+3A>G
NM_001845.6(COL4A1):c.1465+7C>A rs2139179990
NM_001845.6(COL4A1):c.1466-14C>T
NM_001845.6(COL4A1):c.1466-15T>G
NM_001845.6(COL4A1):c.1466-16C>T
NM_001845.6(COL4A1):c.1466-1G>C
NM_001845.6(COL4A1):c.1466-5G>A
NM_001845.6(COL4A1):c.1466-7A>C
NM_001845.6(COL4A1):c.1466-8C>G rs370479261
NM_001845.6(COL4A1):c.1481C>G (p.Pro494Arg)
NM_001845.6(COL4A1):c.1486G>T (p.Ala496Ser)
NM_001845.6(COL4A1):c.1487C>G (p.Ala496Gly) rs1377162046
NM_001845.6(COL4A1):c.1493G>A (p.Gly498Asp) rs113994104
NM_001845.6(COL4A1):c.14T>C (p.Leu5Pro)
NM_001845.6(COL4A1):c.1502G>A (p.Gly501Asp) rs2139179173
NM_001845.6(COL4A1):c.1509del (p.Gly504fs) rs1594566006
NM_001845.6(COL4A1):c.1522G>A (p.Val508Ile)
NM_001845.6(COL4A1):c.1536+13G>A
NM_001845.6(COL4A1):c.1536+557T>C
NM_001845.6(COL4A1):c.1536+8_1536+9delinsCC
NM_001845.6(COL4A1):c.1536A>G (p.Pro512=)
NM_001845.6(COL4A1):c.1536A>T (p.Pro512=)
NM_001845.6(COL4A1):c.1536del (p.Gly513fs)
NM_001845.6(COL4A1):c.1537-12T>C
NM_001845.6(COL4A1):c.1537-14C>G
NM_001845.6(COL4A1):c.1537-14C>T
NM_001845.6(COL4A1):c.1537-19C>T rs773525147
NM_001845.6(COL4A1):c.1537-5T>C
NM_001845.6(COL4A1):c.1539C>T (p.Gly513=)
NM_001845.6(COL4A1):c.1540C>A (p.Pro514Thr)
NM_001845.6(COL4A1):c.1540C>T (p.Pro514Ser)
NM_001845.6(COL4A1):c.1541C>T (p.Pro514Leu) rs1235407477
NM_001845.6(COL4A1):c.1545A>G (p.Gln515=) rs144950610
NM_001845.6(COL4A1):c.1547G>A (p.Gly516Asp)
NM_001845.6(COL4A1):c.1550C>A (p.Thr517Lys) rs1269728194
NM_001845.6(COL4A1):c.1550C>T (p.Thr517Ile) rs1269728194
NM_001845.6(COL4A1):c.1551A>G (p.Thr517=) rs1431558455
NM_001845.6(COL4A1):c.1552C>T (p.Pro518Ser) rs1476264391
NM_001845.6(COL4A1):c.155G>T (p.Gly52Val) rs2139207389
NM_001845.6(COL4A1):c.1560G>A (p.Leu520=) rs767901841
NM_001845.6(COL4A1):c.1561A>G (p.Ile521Val) rs1386647713
NM_001845.6(COL4A1):c.1562T>C (p.Ile521Thr) rs759936052
NM_001845.6(COL4A1):c.1588C>G (p.Pro530Ala) rs145172612
NM_001845.6(COL4A1):c.1593T>C (p.Gly531=) rs2139174049
NM_001845.6(COL4A1):c.159C>A (p.Leu53=)
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
NM_001845.6(COL4A1):c.1605C>T (p.Phe535=) rs139448202
NM_001845.6(COL4A1):c.1606G>A (p.Asp536Asn)
NM_001845.6(COL4A1):c.160C>T (p.Pro54Ser)
NM_001845.6(COL4A1):c.1611dup (p.Arg538fs) rs2139174027
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp) rs397514624
NM_001845.6(COL4A1):c.1615C>T (p.Leu539Phe)
NM_001845.6(COL4A1):c.1618A>C (p.Lys540Gln) rs1878444055
NM_001845.6(COL4A1):c.1618A>G (p.Lys540Glu) rs1878444055
NM_001845.6(COL4A1):c.1627A>T (p.Lys543Ter)
NM_001845.6(COL4A1):c.1628A>G (p.Lys543Arg)
NM_001845.6(COL4A1):c.162G>A (p.Pro54=)
NM_001845.6(COL4A1):c.1630G>A (p.Gly544Arg) rs1131691834
NM_001845.6(COL4A1):c.1634A>G (p.Asp545Gly)
NM_001845.6(COL4A1):c.1641C>T (p.Gly547=)
NM_001845.6(COL4A1):c.1647A>G (p.Pro549=) rs2139173982
NM_001845.6(COL4A1):c.1648G>C (p.Gly550Arg) rs2139173980
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser)
NM_001845.6(COL4A1):c.1663C>A (p.Pro555Thr)
NM_001845.6(COL4A1):c.1671A>G (p.Arg557=)
NM_001845.6(COL4A1):c.1674G>A (p.Ala558=)
NM_001845.6(COL4A1):c.1689A>C (p.Arg563Ser)
NM_001845.6(COL4A1):c.1692T>C (p.Asp564=)
NM_001845.6(COL4A1):c.170A>G (p.Gln57Arg)
NM_001845.6(COL4A1):c.1710T>C (p.Pro570=)
NM_001845.6(COL4A1):c.1714C>T (p.Pro572Ser)
NM_001845.6(COL4A1):c.1718A>G (p.Lys573Arg)
NM_001845.6(COL4A1):c.1720G>A (p.Gly574Ser)
NM_001845.6(COL4A1):c.1721G>T (p.Gly574Val)
NM_001845.6(COL4A1):c.1724C>T (p.Ser575Leu)
NM_001845.6(COL4A1):c.1725G>T (p.Ser575=) rs370332353
NM_001845.6(COL4A1):c.1727C>T (p.Pro576Leu)
NM_001845.6(COL4A1):c.1728+13C>A rs2139173881
NM_001845.6(COL4A1):c.1728+14C>T
NM_001845.6(COL4A1):c.1728+3A>C rs1280449918
NM_001845.6(COL4A1):c.1728+9A>G
NM_001845.6(COL4A1):c.1729-5A>G
NM_001845.6(COL4A1):c.1729-6C>A
NM_001845.6(COL4A1):c.1730G>T (p.Gly577Val)
NM_001845.6(COL4A1):c.1740A>G (p.Gly580=)
NM_001845.6(COL4A1):c.1748G>A (p.Gly583Glu) rs2139173408
NM_001845.6(COL4A1):c.1752G>T (p.Glu584Asp) rs765423555
NM_001845.6(COL4A1):c.1758C>A (p.Gly586=) rs1594560899
NM_001845.6(COL4A1):c.1758C>T (p.Gly586=)
NM_001845.6(COL4A1):c.1759C>G (p.Pro587Ala)
NM_001845.6(COL4A1):c.1759C>T (p.Pro587Ser)
NM_001845.6(COL4A1):c.175G>A (p.Val59Ile)
NM_001845.6(COL4A1):c.1764T>C (p.Pro588=)
NM_001845.6(COL4A1):c.1773T>C (p.Val591=)
NM_001845.6(COL4A1):c.1773T>G (p.Val591=)
NM_001845.6(COL4A1):c.1781C>T (p.Pro594Leu) rs1555304117
NM_001845.6(COL4A1):c.1789C>T (p.Arg597Cys) rs767374916
NM_001845.6(COL4A1):c.1790G>A (p.Arg597His) rs369724575
NM_001845.6(COL4A1):c.1790GTG[1] (p.Gly598del)
NM_001845.6(COL4A1):c.1796A>G (p.Asp599Gly)
NM_001845.6(COL4A1):c.1800C>T (p.Thr600=)
NM_001845.6(COL4A1):c.1801G>A (p.Gly601Ser) rs1064794777
NM_001845.6(COL4A1):c.1803C>T (p.Gly601=)
NM_001845.6(COL4A1):c.1804C>A (p.Pro602Thr) rs769247289
NM_001845.6(COL4A1):c.1819G>C (p.Gly607Arg) rs1555304112
NM_001845.6(COL4A1):c.181_189delinsAGGTTTCCG (p.Gly61Arg) rs2139207338
NM_001845.6(COL4A1):c.1824T>C (p.Tyr608=)
NM_001845.6(COL4A1):c.1828C>T (p.Pro610Ser)
NM_001845.6(COL4A1):c.1829C>T (p.Pro610Leu)
NM_001845.6(COL4A1):c.1830T>C (p.Pro610=)
NM_001845.6(COL4A1):c.1833T>A (p.Ala611=)
NM_001845.6(COL4A1):c.1833T>C (p.Ala611=)
NM_001845.6(COL4A1):c.1837C>T (p.Pro613Ser)
NM_001845.6(COL4A1):c.1838C>G (p.Pro613Arg) rs146091004
NM_001845.6(COL4A1):c.1838C>T (p.Pro613Leu)
NM_001845.6(COL4A1):c.1848C>A (p.Asp616Glu)
NM_001845.6(COL4A1):c.1850A>C (p.Lys617Thr)
NM_001845.6(COL4A1):c.1857A>G (p.Gln619=)
NM_001845.6(COL4A1):c.1858G>A (p.Ala620Thr)
NM_001845.6(COL4A1):c.1862G>A (p.Gly621Asp)
NM_001845.6(COL4A1):c.1864_1890dup (p.Gly630_Leu631insPheProGlyGlyProGlySerProGly) rs2139173181
NM_001845.6(COL4A1):c.1868C>T (p.Pro623Leu) rs1555304107
NM_001845.6(COL4A1):c.1870G>T (p.Gly624Ter) rs1188823925
NM_001845.6(COL4A1):c.1875C>T (p.Gly625=)
NM_001845.6(COL4A1):c.1876C>T (p.Pro626Ser)
NM_001845.6(COL4A1):c.1886C>G (p.Pro629Arg) rs2139173188
NM_001845.6(COL4A1):c.1889G>A (p.Gly630Asp) rs2139173182
NM_001845.6(COL4A1):c.1890_1897+77del rs2139173063
NM_001845.6(COL4A1):c.1896A>G (p.Pro632=)
NM_001845.6(COL4A1):c.1897+10G>A
NM_001845.6(COL4A1):c.1897+18C>G rs749550347
NM_001845.6(COL4A1):c.1897+18C>T
NM_001845.6(COL4A1):c.1897+6G>A
NM_001845.6(COL4A1):c.1898-13T>C
NM_001845.6(COL4A1):c.1898-19T>C
NM_001845.6(COL4A1):c.1898-4C>G
NM_001845.6(COL4A1):c.1898-6C>G
NM_001845.6(COL4A1):c.1898-7C>A
NM_001845.6(COL4A1):c.1900C>T (p.Pro634Ser) rs908568872
NM_001845.6(COL4A1):c.1905G>C (p.Lys635Asn)
NM_001845.6(COL4A1):c.1927C>G (p.Pro643Ala)
NM_001845.6(COL4A1):c.1928C>G (p.Pro643Arg)
NM_001845.6(COL4A1):c.1937G>C (p.Gly646Ala)
NM_001845.6(COL4A1):c.1938C>T (p.Gly646=)
NM_001845.6(COL4A1):c.193A>G (p.Met65Val) rs2139207332
NM_001845.6(COL4A1):c.1940C>G (p.Pro647Arg)
NM_001845.6(COL4A1):c.1941C>A (p.Pro647=)
NM_001845.6(COL4A1):c.1942C>G (p.Pro648Ala)
NM_001845.6(COL4A1):c.1943del (p.Pro648fs)
NM_001845.6(COL4A1):c.1945G>A (p.Gly649Arg) rs2139169795
NM_001845.6(COL4A1):c.1949C>G (p.Ala650Gly)
NM_001845.6(COL4A1):c.1949C>T (p.Ala650Val)
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del)
NM_001845.6(COL4A1):c.1961C>T (p.Pro654Leu)
NM_001845.6(COL4A1):c.1962G>A (p.Pro654=)
NM_001845.6(COL4A1):c.1962G>C (p.Pro654=)
NM_001845.6(COL4A1):c.1971A>G (p.Pro657=)
NM_001845.6(COL4A1):c.1971_1990+24del rs2139169706
NM_001845.6(COL4A1):c.1979C>A (p.Pro660Gln)
NM_001845.6(COL4A1):c.197A>G (p.Gln66Arg)
NM_001845.6(COL4A1):c.198A>G (p.Gln66=)
NM_001845.6(COL4A1):c.1990+10G>A
NM_001845.6(COL4A1):c.1990+12A>G
NM_001845.6(COL4A1):c.1990+8T>C
NM_001845.6(COL4A1):c.1991-2A>G rs2139169623
NM_001845.6(COL4A1):c.1997G>A (p.Arg666Gln)
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg) rs1878248687
NM_001845.6(COL4A1):c.2013C>T (p.Thr671=)
NM_001845.6(COL4A1):c.2022G>C (p.Arg674Ser)
NM_001845.6(COL4A1):c.2022G>T (p.Arg674Ser)
NM_001845.6(COL4A1):c.2024C>T (p.Pro675Leu)
NM_001845.6(COL4A1):c.2036G>A (p.Gly679Glu) rs2139169535
NM_001845.6(COL4A1):c.2040G>C (p.Glu680Asp)
NM_001845.6(COL4A1):c.2047G>A (p.Ala683Thr)
NM_001845.6(COL4A1):c.2049T>A (p.Ala683=)
NM_001845.6(COL4A1):c.2054G>A (p.Gly685Asp) rs1478344451
NM_001845.6(COL4A1):c.2065A>G (p.Ile689Val)
NM_001845.6(COL4A1):c.2069G>A (p.Gly690Glu)
NM_001845.6(COL4A1):c.2070A>G (p.Gly690=)
NM_001845.6(COL4A1):c.2077G>C (p.Gly693Arg)
NM_001845.6(COL4A1):c.2081C>T (p.Pro694Leu)
NM_001845.6(COL4A1):c.2082C>A (p.Pro694=)
NM_001845.6(COL4A1):c.2082C>T (p.Pro694=)
NM_001845.6(COL4A1):c.2083C>G (p.Pro695Ala) rs1878244032
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2089C>T (p.Pro697Ser)
NM_001845.6(COL4A1):c.2095+15C>T
NM_001845.6(COL4A1):c.2095+16G>A
NM_001845.6(COL4A1):c.2095+5C>T
NM_001845.6(COL4A1):c.2095+98C>T rs117494404
NM_001845.6(COL4A1):c.2096-14A>C
NM_001845.6(COL4A1):c.2096-163A>G rs9521634
NM_001845.6(COL4A1):c.2096-16del rs112508409
NM_001845.6(COL4A1):c.2096-19_2096-16del
NM_001845.6(COL4A1):c.2096-27dup rs112508409
NM_001845.6(COL4A1):c.2096-8T>A
NM_001845.6(COL4A1):c.2096-9_2096-8del
NM_001845.6(COL4A1):c.2096G>A (p.Gly699Asp) rs1064795935
NM_001845.6(COL4A1):c.210G>A (p.Gly70=)
NM_001845.6(COL4A1):c.2110C>T (p.Pro704Ser) rs1053283710
NM_001845.6(COL4A1):c.2111C>A (p.Pro704His)
NM_001845.6(COL4A1):c.2113G>A (p.Gly705Arg)
NM_001845.6(COL4A1):c.2119_2120del (p.Met707fs)
NM_001845.6(COL4A1):c.2121G>A (p.Met707Ile)
NM_001845.6(COL4A1):c.2125C>A (p.Pro709Thr)
NM_001845.6(COL4A1):c.2129C>T (p.Pro710Leu)
NM_001845.6(COL4A1):c.2136T>A (p.Thr712=)
NM_001845.6(COL4A1):c.2139A>G (p.Pro713=)
NM_001845.6(COL4A1):c.2141G>A (p.Gly714Asp) rs1064797179
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001845.6(COL4A1):c.2144G>T (p.Arg715Leu) rs199573161
NM_001845.6(COL4A1):c.2148G>A (p.Pro716=)
NM_001845.6(COL4A1):c.2163A>G (p.Leu721=)
NM_001845.6(COL4A1):c.2163A>T (p.Leu721Phe)
NM_001845.6(COL4A1):c.2164C>G (p.Pro722Ala)
NM_001845.6(COL4A1):c.2171A>G (p.Asn724Ser) rs1878139800
NM_001845.6(COL4A1):c.2183A>G (p.Gln728Arg) rs1878139161
NM_001845.6(COL4A1):c.2191A>C (p.Lys731Gln)
NM_001845.6(COL4A1):c.2191A>G (p.Lys731Glu)
NM_001845.6(COL4A1):c.2193+17C>G
NM_001845.6(COL4A1):c.2193+18C>T rs2139167465
NM_001845.6(COL4A1):c.2194-11G>A
NM_001845.6(COL4A1):c.2194-16C>T
NM_001845.6(COL4A1):c.2199G>T (p.Glu733Asp) rs371514041
NM_001845.6(COL4A1):c.2200C>T (p.Pro734Ser)
NM_001845.6(COL4A1):c.2204G>C (p.Gly735Ala)
NM_001845.6(COL4A1):c.2213T>C (p.Leu738Pro)
NM_001845.6(COL4A1):c.2217G>A (p.Pro739=)
NM_001845.6(COL4A1):c.221C>T (p.Pro74Leu)
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2235A>G (p.Pro745=)
NM_001845.6(COL4A1):c.223C>G (p.Pro75Ala)
NM_001845.6(COL4A1):c.2242C>T (p.Pro748Ser)
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2249T>C (p.Ile750Thr)
NM_001845.6(COL4A1):c.2250T>C (p.Ile750=)
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2264G>A (p.Gly755Glu) rs1878041974
NM_001845.6(COL4A1):c.2277C>A (p.Ser759Arg) rs764059421
NM_001845.6(COL4A1):c.2277C>G (p.Ser759Arg)
NM_001845.6(COL4A1):c.2279T>G (p.Ile760Ser)
NM_001845.6(COL4A1):c.227G>C (p.Gly76Ala) rs775754972
NM_001845.6(COL4A1):c.2282G>T (p.Gly761Val) rs1064795130
NM_001845.6(COL4A1):c.2285T>A (p.Val762Glu)
NM_001845.6(COL4A1):c.2291G>A (p.Gly764Asp) rs1566353677
NM_001845.6(COL4A1):c.2292C>T (p.Gly764=)
NM_001845.6(COL4A1):c.2293G>A (p.Val765Ile)
NM_001845.6(COL4A1):c.2312C>T (p.Ala771Val)
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2324C>G (p.Pro775Arg)
NM_001845.6(COL4A1):c.2327G>T (p.Gly776Val) rs2139165521
NM_001845.6(COL4A1):c.2328G>T (p.Gly776=)
NM_001845.6(COL4A1):c.2330T>C (p.Leu777Pro)
NM_001845.6(COL4A1):c.233A>C (p.Lys78Thr)
NM_001845.6(COL4A1):c.234+14T>C
NM_001845.6(COL4A1):c.234+16G>A
NM_001845.6(COL4A1):c.234+9G>T rs374115295
NM_001845.6(COL4A1):c.2344+104G>C rs73609595
NM_001845.6(COL4A1):c.2344+18A>G
NM_001845.6(COL4A1):c.2344+9A>T
NM_001845.6(COL4A1):c.2345-15dup
NM_001845.6(COL4A1):c.2345-2A>G
NM_001845.6(COL4A1):c.2345-4C>T
NM_001845.6(COL4A1):c.2347G>A (p.Glu783Lys) rs1878019123
NM_001845.6(COL4A1):c.234G>A (p.Lys78=) rs905794416
NM_001845.6(COL4A1):c.235-12A>G
NM_001845.6(COL4A1):c.2352G>A (p.Pro784=)
NM_001845.6(COL4A1):c.2366T>C (p.Leu789Ser)
NM_001845.6(COL4A1):c.2375C>T (p.Ser792Phe)
NM_001845.6(COL4A1):c.2376C>T (p.Ser792=)
NM_001845.6(COL4A1):c.2377G>A (p.Val793Met) rs769302846
NM_001845.6(COL4A1):c.2391A>G (p.Gly797=)
NM_001845.6(COL4A1):c.2399G>A (p.Gly800Glu)
NM_001845.6(COL4A1):c.2404G>T (p.Gly802Cys)
NM_001845.6(COL4A1):c.2405G>C (p.Gly802Ala) rs1301668632
NM_001845.6(COL4A1):c.2406C>T (p.Gly802=)
NM_001845.6(COL4A1):c.2407C>A (p.Pro803Thr)
NM_001845.6(COL4A1):c.2411del (p.Pro804fs) rs2139165126
NM_001845.6(COL4A1):c.2413G>A (p.Gly805Arg)
NM_001845.6(COL4A1):c.2414G>A (p.Gly805Glu) rs868858094
NM_001845.6(COL4A1):c.241A>G (p.Thr81Ala)
NM_001845.6(COL4A1):c.2420G>A (p.Arg807Lys)
NM_001845.6(COL4A1):c.2420G>C (p.Arg807Thr)
NM_001845.6(COL4A1):c.2425C>T (p.Pro809Ser)
NM_001845.6(COL4A1):c.2427C>T (p.Pro809=) rs1167903898
NM_001845.6(COL4A1):c.2443C>A (p.Pro815Thr)
NM_001845.6(COL4A1):c.2446C>A (p.Pro816Thr)
NM_001845.6(COL4A1):c.2449G>A (p.Gly817Arg)
NM_001845.6(COL4A1):c.2453T>C (p.Leu818Ser)
NM_001845.6(COL4A1):c.2458+10A>G
NM_001845.6(COL4A1):c.2458+13C>G
NM_001845.6(COL4A1):c.2458+1G>A rs1878012979
NM_001845.6(COL4A1):c.2458+5G>A
NM_001845.6(COL4A1):c.2458+5G>C
NM_001845.6(COL4A1):c.2458+6dup
NM_001845.6(COL4A1):c.2459-8A>C
NM_001845.6(COL4A1):c.2461C>T (p.Pro821Ser)
NM_001845.6(COL4A1):c.2474A>G (p.Lys825Arg)
NM_001845.6(COL4A1):c.2479G>A (p.Glu827Lys) rs2139164381
NM_001845.6(COL4A1):c.2484G>A (p.Lys828=)
NM_001845.6(COL4A1):c.2491C>T (p.Pro831Ser)
NM_001845.6(COL4A1):c.2493C>A (p.Pro831=)
NM_001845.6(COL4A1):c.2493C>T (p.Pro831=) rs764995559
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2500C>G (p.Pro834Ala)
NM_001845.6(COL4A1):c.2511C>T (p.Asp837=)
NM_001845.6(COL4A1):c.2512A>G (p.Met838Val) rs2139164333
NM_001845.6(COL4A1):c.2514G>A (p.Met838Ile)
NM_001845.6(COL4A1):c.2521C>T (p.Pro841Ser)
NM_001845.6(COL4A1):c.2522C>A (p.Pro841His)
NM_001845.6(COL4A1):c.2522C>G (p.Pro841Arg)
NM_001845.6(COL4A1):c.2532T>C (p.Asp844=) rs2139164290
NM_001845.6(COL4A1):c.2538G>A (p.Gly846=)
NM_001845.6(COL4A1):c.2539G>A (p.Ala847Thr)
NM_001845.6(COL4A1):c.2544A>G (p.Gln848=)
NM_001845.6(COL4A1):c.2551C>T (p.Pro851Ser)
NM_001845.6(COL4A1):c.2553T>G (p.Pro851=)
NM_001845.6(COL4A1):c.255A>G (p.Gly85=)
NM_001845.6(COL4A1):c.2561C>T (p.Thr854Met)
NM_001845.6(COL4A1):c.2562G>A (p.Thr854=)
NM_001845.6(COL4A1):c.2578C>G (p.Pro860Ala)
NM_001845.6(COL4A1):c.2581G>C (p.Gly861Arg)
NM_001845.6(COL4A1):c.2583C>G (p.Gly861=)
NM_001845.6(COL4A1):c.2583C>T (p.Gly861=)
NM_001845.6(COL4A1):c.2584C>G (p.Leu862Val)
NM_001845.6(COL4A1):c.2584C>T (p.Leu862Phe)
NM_001845.6(COL4A1):c.2591G>A (p.Gly864Glu) rs1877963897
NM_001845.6(COL4A1):c.2596C>A (p.Gln866Lys)
NM_001845.6(COL4A1):c.2601G>A (p.Gly867=)
NM_001845.6(COL4A1):c.2602G>A (p.Ala868Thr)
NM_001845.6(COL4A1):c.2607T>C (p.Pro869=)
NM_001845.6(COL4A1):c.2618G>A (p.Gly873Glu)
NM_001845.6(COL4A1):c.2626+5G>C
NM_001845.6(COL4A1):c.2626+7G>A
NM_001845.6(COL4A1):c.2626+7G>T
NM_001845.6(COL4A1):c.2627-15T>C
NM_001845.6(COL4A1):c.2627-17C>T rs2139164041
NM_001845.6(COL4A1):c.2627-19T>A
NM_001845.6(COL4A1):c.2627-1G>A rs1064796811
NM_001845.6(COL4A1):c.2627-4dup rs1555303159
NM_001845.6(COL4A1):c.2627-7G>A
NM_001845.6(COL4A1):c.2627-9T>C
NM_001845.6(COL4A1):c.2628T>A (p.Gly876=)
NM_001845.6(COL4A1):c.2636G>A (p.Gly879Glu) rs2139164015
NM_001845.6(COL4A1):c.2636G>C (p.Gly879Ala) rs2139164015
NM_001845.6(COL4A1):c.2646C>A (p.Gly882=)
NM_001845.6(COL4A1):c.2646C>T (p.Gly882=)
NM_001845.6(COL4A1):c.2647G>T (p.Val883Phe)
NM_001845.6(COL4A1):c.2655G>C (p.Gly885=)
NM_001845.6(COL4A1):c.2655del (p.Thr886fs) rs2139163985
NM_001845.6(COL4A1):c.2657C>T (p.Thr886Ile) rs770887997
NM_001845.6(COL4A1):c.2658C>T (p.Thr886=) rs2139163970
NM_001845.6(COL4A1):c.2661C>A (p.Pro887=)
NM_001845.6(COL4A1):c.2661C>T (p.Pro887=)
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg) rs797045034
NM_001845.6(COL4A1):c.2670G>A (p.Pro890=)
NM_001845.6(COL4A1):c.2672G>A (p.Gly891Asp) rs886041965
NM_001845.6(COL4A1):c.2673C>G (p.Gly891=)
NM_001845.6(COL4A1):c.2675C>T (p.Ser892Leu)
NM_001845.6(COL4A1):c.2681G>A (p.Gly894Glu)
NM_001845.6(COL4A1):c.2689G>C (p.Gly897Arg)
NM_001845.6(COL4A1):c.2690G>A (p.Gly897Asp)
NM_001845.6(COL4A1):c.2690G>T (p.Gly897Val)
NM_001845.6(COL4A1):c.2696_2697insCGGCCTCACCAGGACCAGTGGGTGCTCC (p.Pro902fs)
NM_001845.6(COL4A1):c.269A>G (p.Lys90Arg)
NM_001845.6(COL4A1):c.26TGC[5] (p.Leu12dup) rs773749770
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.2711A>G (p.Glu904Gly)
NM_001845.6(COL4A1):c.2716+17C>A
NM_001845.6(COL4A1):c.2716+8A>C rs2139163886
NM_001845.6(COL4A1):c.2717-19C>G
NM_001845.6(COL4A1):c.2717-1G>A
NM_001845.6(COL4A1):c.2720A>G (p.Asp907Gly)
NM_001845.6(COL4A1):c.2723A>C (p.His908Pro)
NM_001845.6(COL4A1):c.2723A>G (p.His908Arg)
NM_001845.6(COL4A1):c.2724T>C (p.His908=)
NM_001845.6(COL4A1):c.2731C>T (p.Pro911Ser) rs926805569
NM_001845.6(COL4A1):c.2739C>T (p.Ser913=)
NM_001845.6(COL4A1):c.2757C>A (p.Asp919Glu)
NM_001845.6(COL4A1):c.2758C>T (p.Pro920Ser)
NM_001845.6(COL4A1):c.2763C>T (p.Gly921=)
NM_001845.6(COL4A1):c.2764T>C (p.Leu922=)
NM_001845.6(COL4A1):c.2771G>A (p.Gly924Asp) rs2139163087
NM_001845.6(COL4A1):c.2775T>C (p.Asp925=) rs1204950387
NM_001845.6(COL4A1):c.2784T>C (p.Asp928=)
NM_001845.6(COL4A1):c.2786T>A (p.Val929Asp)
NM_001845.6(COL4A1):c.2787C>T (p.Val929=)
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser) rs2139163058
NM_001845.6(COL4A1):c.279+8C>T
NM_001845.6(COL4A1):c.2799C>A (p.Gly933=)
NM_001845.6(COL4A1):c.2799C>G (p.Gly933=)
NM_001845.6(COL4A1):c.280-10G>A
NM_001845.6(COL4A1):c.280-10G>T
NM_001845.6(COL4A1):c.280-158TG[3] rs113274692
NM_001845.6(COL4A1):c.280-3C>T
NM_001845.6(COL4A1):c.2816A>G (p.Asp939Gly) rs2139163019
NM_001845.6(COL4A1):c.2836A>T (p.Met946Leu)
NM_001845.6(COL4A1):c.283C>A (p.Pro95Thr)
NM_001845.6(COL4A1):c.2849A>G (p.Lys950Arg) rs2139162983
NM_001845.6(COL4A1):c.2850A>T (p.Lys950Asn)
NM_001845.6(COL4A1):c.2854G>A (p.Asp952Asn) rs2139162979
NM_001845.6(COL4A1):c.2861G>C (p.Gly954Ala) rs2139162968
NM_001845.6(COL4A1):c.2869+14G>A
NM_001845.6(COL4A1):c.2870-10T>G rs1877906599
NM_001845.6(COL4A1):c.2870-15T>C rs2139162803
NM_001845.6(COL4A1):c.2870-16C>A
NM_001845.6(COL4A1):c.2870-9G>T
NM_001845.6(COL4A1):c.2870G>A (p.Gly957Glu) rs2139162781
NM_001845.6(COL4A1):c.2871A>G (p.Gly957=)
NM_001845.6(COL4A1):c.2877T>C (p.Ile959=)
NM_001845.6(COL4A1):c.2878G>A (p.Gly960Arg) rs2139162773
NM_001845.6(COL4A1):c.287C>T (p.Pro96Leu)
NM_001845.6(COL4A1):c.2882C>T (p.Pro961Leu)
NM_001845.6(COL4A1):c.2884A>C (p.Ile962Leu)
NM_001845.6(COL4A1):c.288G>A (p.Pro96=)
NM_001845.6(COL4A1):c.2890G>C (p.Glu964Gln) rs1555303045
NM_001845.6(COL4A1):c.2893A>C (p.Lys965Gln) rs2139162744
NM_001845.6(COL4A1):c.2894A>G (p.Lys965Arg) rs2139162743
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter) rs1877904298
NM_001845.6(COL4A1):c.2916G>T (p.Gly972=)
NM_001845.6(COL4A1):c.2923G>C (p.Gly975Arg)
NM_001845.6(COL4A1):c.2926G>A (p.Val976Met) rs1020346026
NM_001845.6(COL4A1):c.2930del (p.Pro977fs) rs2139162697
NM_001845.6(COL4A1):c.2936A>T (p.Lys979Met)
NM_001845.6(COL4A1):c.2940C>A (p.Asp980Glu)
NM_001845.6(COL4A1):c.2947_2964dup (p.Ala983_Gln988dup) rs2139162654
NM_001845.6(COL4A1):c.2948C>T (p.Ala983Val) rs956773650
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.2964G>A (p.Gln988=)
NM_001845.6(COL4A1):c.2968+14C>T
NM_001845.6(COL4A1):c.2968+17C>T
NM_001845.6(COL4A1):c.2968+18G>A
NM_001845.6(COL4A1):c.2968+1G>A
NM_001845.6(COL4A1):c.2968+5A>G
NM_001845.6(COL4A1):c.2968+6G>A
NM_001845.6(COL4A1):c.2968+6G>T rs760570181
NM_001845.6(COL4A1):c.2968+8G>A rs2139162635
NM_001845.6(COL4A1):c.2969-19G>A
NM_001845.6(COL4A1):c.2969-31A>G rs1975514
NM_001845.6(COL4A1):c.2969G>T (p.Gly990Val) rs1594550371
NM_001845.6(COL4A1):c.2978G>C (p.Gly993Ala) rs2139162409
NM_001845.6(COL4A1):c.2982T>A (p.Asp994Glu)
NM_001845.6(COL4A1):c.2992A>G (p.Ser998Gly)
NM_001845.6(COL4A1):c.2993G>A (p.Ser998Asn)
NM_001845.6(COL4A1):c.2T>A (p.Met1Lys) rs1555318328
NM_001845.6(COL4A1):c.3000C>T (p.Thr1000=)
NM_001845.6(COL4A1):c.3003A>G (p.Pro1001=) rs2139162370
NM_001845.6(COL4A1):c.3020C>T (p.Pro1007Leu)
NM_001845.6(COL4A1):c.3031G>T (p.Gly1011Ter) rs1566351231
NM_001845.6(COL4A1):c.3037G>A (p.Val1013Ile)
NM_001845.6(COL4A1):c.3037G>T (p.Val1013Phe) rs766119538
NM_001845.6(COL4A1):c.3041G>A (p.Gly1014Asp)
NM_001845.6(COL4A1):c.3046A>G (p.Met1016Val)
NM_001845.6(COL4A1):c.3051C>A (p.Gly1017=)
NM_001845.6(COL4A1):c.3056C>G (p.Pro1019Arg)
NM_001845.6(COL4A1):c.3058+19A>G
NM_001845.6(COL4A1):c.3059-17A>G
NM_001845.6(COL4A1):c.3059-19C>G
NM_001845.6(COL4A1):c.3059-19C>T
NM_001845.6(COL4A1):c.3059-20T>G
NM_001845.6(COL4A1):c.3059-7T>C
NM_001845.6(COL4A1):c.3083C>T (p.Pro1028Leu)
NM_001845.6(COL4A1):c.3088A>G (p.Ile1030Val)
NM_001845.6(COL4A1):c.3095G>A (p.Gly1032Asp)
NM_001845.6(COL4A1):c.3096C>G (p.Gly1032=)
NM_001845.6(COL4A1):c.3102A>G (p.Gln1034=)
NM_001845.6(COL4A1):c.3126C>G (p.Asp1042Glu)
NM_001845.6(COL4A1):c.3133G>A (p.Ala1045Thr) rs1057519214
NM_001845.6(COL4A1):c.3142G>A (p.Glu1048Lys) rs1251048055
NM_001845.6(COL4A1):c.3152A>G (p.Gln1051Arg)
NM_001845.6(COL4A1):c.3178C>T (p.Pro1060Ser) rs886044336
NM_001845.6(COL4A1):c.3183_3184delinsAG (p.Leu1062Val)
NM_001845.6(COL4A1):c.3184C>T (p.Leu1062=)
NM_001845.6(COL4A1):c.3192T>C (p.Gly1064=)
NM_001845.6(COL4A1):c.3198+10G>T rs202002553
NM_001845.6(COL4A1):c.3198+11C>T
NM_001845.6(COL4A1):c.3198+20G>A
NM_001845.6(COL4A1):c.3198+28C>G rs111449216
NM_001845.6(COL4A1):c.3198+28C>T rs111449216
NM_001845.6(COL4A1):c.3198+9C>A rs112120233
NM_001845.6(COL4A1):c.3199-14A>C
NM_001845.6(COL4A1):c.3199-18C>G
NM_001845.6(COL4A1):c.3199-20T>A
NM_001845.6(COL4A1):c.3199-5T>G
NM_001845.6(COL4A1):c.3199-7C>T
NM_001845.6(COL4A1):c.3199-9T>C rs1877803388
NM_001845.6(COL4A1):c.3199G>A (p.Gly1067Arg)
NM_001845.6(COL4A1):c.31C>T (p.Leu11=)
NM_001845.6(COL4A1):c.3203A>T (p.Asp1068Val)
NM_001845.6(COL4A1):c.3205C>G (p.Gln1069Glu)
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg) rs1057523325
NM_001845.6(COL4A1):c.3215C>T (p.Ala1072Val)
NM_001845.6(COL4A1):c.3224C>T (p.Pro1075Leu)
NM_001845.6(COL4A1):c.3225A>G (p.Pro1075=)
NM_001845.6(COL4A1):c.3230G>A (p.Ser1077Asn)
NM_001845.6(COL4A1):c.3235G>A (p.Gly1079Arg) rs2139160417
NM_001845.6(COL4A1):c.3236G>A (p.Gly1079Glu) rs1566349968
NM_001845.6(COL4A1):c.324+15C>T
NM_001845.6(COL4A1):c.324+1G>A rs1085307816
NM_001845.6(COL4A1):c.325-10T>G
NM_001845.6(COL4A1):c.325-17C>T
NM_001845.6(COL4A1):c.325-18T>C
NM_001845.6(COL4A1):c.325-4G>A rs2139205538
NM_001845.6(COL4A1):c.3258C>T (p.Ser1086=)
NM_001845.6(COL4A1):c.3259A>G (p.Ile1087Val)
NM_001845.6(COL4A1):c.3262G>A (p.Gly1088Arg)
NM_001845.6(COL4A1):c.3264G>A (p.Gly1088=) rs2139160379
NM_001845.6(COL4A1):c.3273_3290del (p.Met1092_Gly1097del)
NM_001845.6(COL4A1):c.3276G>A (p.Met1092Ile)
NM_001845.6(COL4A1):c.3279A>G (p.Pro1093=)
NM_001845.6(COL4A1):c.3300del (p.Ser1101fs)
NM_001845.6(COL4A1):c.3306C>T (p.Pro1102=) rs752732736
NM_001845.6(COL4A1):c.3307G>A (p.Gly1103Arg) rs1877796698
NM_001845.6(COL4A1):c.3313G>T (p.Val1105Phe)
NM_001845.6(COL4A1):c.3325+14G>A
NM_001845.6(COL4A1):c.3325+14dup rs751210011
NM_001845.6(COL4A1):c.3325+19T>G
NM_001845.6(COL4A1):c.3325+20C>G
NM_001845.6(COL4A1):c.3325+20C>T
NM_001845.6(COL4A1):c.3325+3A>T
NM_001845.6(COL4A1):c.3325+8A>C
NM_001845.6(COL4A1):c.3325+8del
NM_001845.6(COL4A1):c.3326-12T>G
NM_001845.6(COL4A1):c.3326-13T>G
NM_001845.6(COL4A1):c.3326-13dup rs139122216
NM_001845.6(COL4A1):c.3326-3T>C
NM_001845.6(COL4A1):c.3326-5T>C
NM_001845.6(COL4A1):c.3326-7del
NM_001845.6(COL4A1):c.3327A>G (p.Gly1109=)
NM_001845.6(COL4A1):c.3336G>C (p.Gly1112=)
NM_001845.6(COL4A1):c.3347A>T (p.Glu1116Val)
NM_001845.6(COL4A1):c.3358A>G (p.Lys1120Glu) rs1566349683
NM_001845.6(COL4A1):c.3371G>A (p.Gly1124Glu) rs1085307568
NM_001845.6(COL4A1):c.3378T>A (p.Asp1126Glu)
NM_001845.6(COL4A1):c.3379G>A (p.Gly1127Ser)
NM_001845.6(COL4A1):c.3381C>T (p.Gly1127=)
NM_001845.6(COL4A1):c.3390T>A (p.Gly1130=)
NM_001845.6(COL4A1):c.3395A>G (p.Lys1132Arg)
NM_001845.6(COL4A1):c.3401A>T (p.Glu1134Val)
NM_001845.6(COL4A1):c.3406+10C>T
NM_001845.6(COL4A1):c.3406+8G>A
NM_001845.6(COL4A1):c.3406+9C>T
NM_001845.6(COL4A1):c.3406G>T (p.Gly1136Cys)
NM_001845.6(COL4A1):c.3407-16G>T
NM_001845.6(COL4A1):c.3407-7C>T
NM_001845.6(COL4A1):c.3413C>T (p.Pro1138Leu)
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.343G>C (p.Gly115Arg)
NM_001845.6(COL4A1):c.3443G>T (p.Gly1148Val)
NM_001845.6(COL4A1):c.3450A>G (p.Lys1150=)
NM_001845.6(COL4A1):c.3456G>T (p.Glu1152Asp) rs2139159560
NM_001845.6(COL4A1):c.3457C>T (p.Pro1153Ser)
NM_001845.6(COL4A1):c.3461G>A (p.Gly1154Asp) rs2139159547
NM_001845.6(COL4A1):c.3463A>G (p.Ser1155Gly)
NM_001845.6(COL4A1):c.3467A>T (p.Asp1156Val)
NM_001845.6(COL4A1):c.3468T>C (p.Asp1156=) rs1296803571
NM_001845.6(COL4A1):c.3472A>G (p.Ile1158Val)
NM_001845.6(COL4A1):c.347C>T (p.Pro116Leu) rs538816765
NM_001845.6(COL4A1):c.3480del (p.Ser1161fs)
NM_001845.6(COL4A1):c.3481T>A (p.Ser1161Thr)
NM_001845.6(COL4A1):c.3485C>T (p.Ala1162Val)
NM_001845.6(COL4A1):c.3488G>A (p.Gly1163Glu) rs2139159488
NM_001845.6(COL4A1):c.3493A>G (p.Lys1165Glu)
NM_001845.6(COL4A1):c.3495G>C (p.Lys1165Asn)
NM_001845.6(COL4A1):c.3497G>A (p.Gly1166Asp)
NM_001845.6(COL4A1):c.3497G>T (p.Gly1166Val) rs1085307982
NM_001845.6(COL4A1):c.3498T>C (p.Gly1166=)
NM_001845.6(COL4A1):c.3501A>G (p.Glu1167=)
NM_001845.6(COL4A1):c.3502C>T (p.Pro1168Ser)
NM_001845.6(COL4A1):c.3505+12C>T
NM_001845.6(COL4A1):c.3505+13G>A
NM_001845.6(COL4A1):c.3505+13G>T rs762177611
NM_001845.6(COL4A1):c.3505+4T>G
NM_001845.6(COL4A1):c.3505+7C>G
NM_001845.6(COL4A1):c.3506-11T>C
NM_001845.6(COL4A1):c.3506-147C>A rs17517598
NM_001845.6(COL4A1):c.3506-20A>G
NM_001845.6(COL4A1):c.3506-233G>A rs76348017
NM_001845.6(COL4A1):c.3506-4A>G
NM_001845.6(COL4A1):c.3509T>C (p.Leu1170Pro)
NM_001845.6(COL4A1):c.3512C>G (p.Pro1171Arg)
NM_001845.6(COL4A1):c.3520G>A (p.Gly1174Arg)
NM_001845.6(COL4A1):c.3521G>A (p.Gly1174Glu)
NM_001845.6(COL4A1):c.3528A>G (p.Pro1176=)
NM_001845.6(COL4A1):c.3530G>C (p.Gly1177Ala)
NM_001845.6(COL4A1):c.3531G>C (p.Gly1177=)
NM_001845.6(COL4A1):c.3536C>G (p.Pro1179Arg)
NM_001845.6(COL4A1):c.3540G>A (p.Gly1180=)
NM_001845.6(COL4A1):c.3556+10G>C
NM_001845.6(COL4A1):c.3556+16T>C
NM_001845.6(COL4A1):c.3556+17G>A
NM_001845.6(COL4A1):c.3556+197G>C rs79228241
NM_001845.6(COL4A1):c.3556+1G>T rs1555302645
NM_001845.6(COL4A1):c.3557-11T>C
NM_001845.6(COL4A1):c.3557-14T>C rs886049957
NM_001845.6(COL4A1):c.3557-3C>G
NM_001845.6(COL4A1):c.3557-6G>A
NM_001845.6(COL4A1):c.3570G>A (p.Glu1190=)
NM_001845.6(COL4A1):c.3572T>G (p.Val1191Gly)
NM_001845.6(COL4A1):c.3574G>A (p.Gly1192Ser)
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg) rs2139156269
NM_001845.6(COL4A1):c.3579C>G (p.Phe1193Leu) rs968106620
NM_001845.6(COL4A1):c.3579C>T (p.Phe1193=)
NM_001845.6(COL4A1):c.3584G>C (p.Gly1195Ala) rs2139156261
NM_001845.6(COL4A1):c.3589G>C (p.Ala1197Pro)
NM_001845.6(COL4A1):c.358C>G (p.Pro120Ala)
NM_001845.6(COL4A1):c.3592G>A (p.Gly1198Arg) rs2139156247
NM_001845.6(COL4A1):c.3596G>A (p.Ser1199Asn)
NM_001845.6(COL4A1):c.360A>T (p.Pro120=)
NM_001845.6(COL4A1):c.3611G>A (p.Gly1204Glu) rs1085307907
NM_001845.6(COL4A1):c.3620G>A (p.Gly1207Glu) rs2139156207
NM_001845.6(COL4A1):c.3635T>A (p.Met1212Lys)
NM_001845.6(COL4A1):c.3635T>C (p.Met1212Thr)
NM_001845.6(COL4A1):c.3638G>A (p.Gly1213Asp) rs2139156180
NM_001845.6(COL4A1):c.3641C>T (p.Pro1214Leu)
NM_001845.6(COL4A1):c.3642T>G (p.Pro1214=)
NM_001845.6(COL4A1):c.3644C>T (p.Pro1215Leu)
NM_001845.6(COL4A1):c.3645G>A (p.Pro1215=)
NM_001845.6(COL4A1):c.3654G>A (p.Gln1218=)
NM_001845.6(COL4A1):c.3655G>C (p.Gly1219Arg) rs2139156141
NM_001845.6(COL4A1):c.3655G>T (p.Gly1219Ter) rs2139156141
NM_001845.6(COL4A1):c.3663G>A (p.Pro1221=) rs371631013
NM_001845.6(COL4A1):c.3663G>T (p.Pro1221=) rs371631013
NM_001845.6(COL4A1):c.3667T>A (p.Leu1223Ile)
NM_001845.6(COL4A1):c.3672G>A (p.Pro1224=)
NM_001845.6(COL4A1):c.3677C>A (p.Ser1226Tyr)
NM_001845.6(COL4A1):c.3683G>T (p.Gly1228Val) rs1555302449
NM_001845.6(COL4A1):c.3684C>A (p.Gly1228=)
NM_001845.6(COL4A1):c.3685C>T (p.His1229Tyr) rs745478987
NM_001845.6(COL4A1):c.3686A>G (p.His1229Arg)
NM_001845.6(COL4A1):c.3689C>G (p.Ala1230Gly)
NM_001845.6(COL4A1):c.368C>T (p.Pro123Leu)
NM_001845.6(COL4A1):c.3692C>T (p.Thr1231Met)
NM_001845.6(COL4A1):c.3696G>A (p.Glu1232=)
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu) rs1348341976
NM_001845.6(COL4A1):c.3701C>T (p.Pro1234Leu)
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3707G>T (p.Gly1236Val)
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3719C>A (p.Pro1240His)
NM_001845.6(COL4A1):c.3731C>G (p.Pro1244Arg)
NM_001845.6(COL4A1):c.3734G>A (p.Gly1245Asp)
NM_001845.6(COL4A1):c.3738G>T (p.Leu1246=)
NM_001845.6(COL4A1):c.3740C>T (p.Pro1247Leu)
NM_001845.6(COL4A1):c.3742+10T>C
NM_001845.6(COL4A1):c.3742+13C>T
NM_001845.6(COL4A1):c.3742+14G>T
NM_001845.6(COL4A1):c.3742+18G>A
NM_001845.6(COL4A1):c.3742+1G>T
NM_001845.6(COL4A1):c.3742+7G>T
NM_001845.6(COL4A1):c.3742G>A (p.Gly1248Arg)
NM_001845.6(COL4A1):c.3743-14T>C
NM_001845.6(COL4A1):c.3743-20G>A
NM_001845.6(COL4A1):c.3743-20G>C
NM_001845.6(COL4A1):c.3743-20G>T
NM_001845.6(COL4A1):c.3743-5A>G
NM_001845.6(COL4A1):c.3743G>A (p.Gly1248Glu) rs2139154591
NM_001845.6(COL4A1):c.3748C>A (p.Pro1250Thr) rs144403132
NM_001845.6(COL4A1):c.3748C>T (p.Pro1250Ser)
NM_001845.6(COL4A1):c.3749C>T (p.Pro1250Leu)
NM_001845.6(COL4A1):c.3750G>T (p.Pro1250=)
NM_001845.6(COL4A1):c.3760G>A (p.Gly1254Arg) rs1085307614
NM_001845.6(COL4A1):c.3762_3763delinsTT (p.Pro1255Ser)
NM_001845.6(COL4A1):c.3771G>C (p.Gly1257=)
NM_001845.6(COL4A1):c.377A>G (p.Asn126Ser)
NM_001845.6(COL4A1):c.3796G>C (p.Gly1266Arg)
NM_001845.6(COL4A1):c.3797G>A (p.Gly1266Asp) rs1057518100
NM_001845.6(COL4A1):c.3806G>A (p.Gly1269Glu) rs2139154502
NM_001845.6(COL4A1):c.3810T>A (p.Asn1270Lys)
NM_001845.6(COL4A1):c.3812C>T (p.Pro1271Leu)
NM_001845.6(COL4A1):c.3816C>T (p.Gly1272=)
NM_001845.6(COL4A1):c.381C>T (p.Gly127=)
NM_001845.6(COL4A1):c.3820C>T (p.Pro1274Ser)
NM_001845.6(COL4A1):c.3822A>G (p.Pro1274=) rs746243053
NM_001845.6(COL4A1):c.3825A>G (p.Gly1275=)
NM_001845.6(COL4A1):c.3830C>T (p.Pro1277Leu)
NM_001845.6(COL4A1):c.3843G>A (p.Gly1281=)
NM_001845.6(COL4A1):c.3850G>A (p.Gly1284Arg) rs2139154447
NM_001845.6(COL4A1):c.3857C>A (p.Pro1286His) rs1064795795
NM_001845.6(COL4A1):c.3861A>G (p.Gly1287=) rs2139154436
NM_001845.6(COL4A1):c.387+15G>A
NM_001845.6(COL4A1):c.387+20C>A
NM_001845.6(COL4A1):c.387+20C>T
NM_001845.6(COL4A1):c.3870C>A (p.Gly1290=)
NM_001845.6(COL4A1):c.3876+102_3876+105del rs1444468331
NM_001845.6(COL4A1):c.3876+104GT[15] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[16] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[17] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[18] rs3832901
NM_001845.6(COL4A1):c.3876+104GT[19] rs3832901
NM_001845.6(COL4A1):c.3876+12_3876+16del
NM_001845.6(COL4A1):c.3876+160TCTT[3] rs3832902
NM_001845.6(COL4A1):c.3876+9T>C
NM_001845.6(COL4A1):c.3877-10_3877-9delinsTT
NM_001845.6(COL4A1):c.3877-17C>A
NM_001845.6(COL4A1):c.3877-19C>A
NM_001845.6(COL4A1):c.3877-8G>T
NM_001845.6(COL4A1):c.3877-9_3877-8delinsTA
NM_001845.6(COL4A1):c.388-14T>G
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001845.6(COL4A1):c.3886G>A (p.Gly1296Ser)
NM_001845.6(COL4A1):c.388G>A (p.Gly130Arg) rs766346293
NM_001845.6(COL4A1):c.388G>T (p.Gly130Trp)
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala) rs1877385413
NM_001845.6(COL4A1):c.3907T>A (p.Ser1303Thr)
NM_001845.6(COL4A1):c.390G>A (p.Gly130=) rs1879820132
NM_001845.6(COL4A1):c.3932G>A (p.Gly1311Glu) rs1877384330
NM_001845.6(COL4A1):c.3934G>A (p.Val1312Ile)
NM_001845.6(COL4A1):c.3949+7C>T
NM_001845.6(COL4A1):c.394A>G (p.Arg132Gly)
NM_001845.6(COL4A1):c.3950-12C>G
NM_001845.6(COL4A1):c.3950-19G>T
NM_001845.6(COL4A1):c.3950-4T>C
NM_001845.6(COL4A1):c.3950-7C>T
NM_001845.6(COL4A1):c.3952C>T (p.Pro1318Ser) rs1877334157
NM_001845.6(COL4A1):c.3954A>T (p.Pro1318=)
NM_001845.6(COL4A1):c.3955A>C (p.Lys1319Gln)
NM_001845.6(COL4A1):c.3972C>T (p.Leu1324=) rs535848796
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) rs587777379
NM_001845.6(COL4A1):c.3977G>T (p.Gly1326Val) rs886041714
NM_001845.6(COL4A1):c.3983A>G (p.Lys1328Arg)
NM_001845.6(COL4A1):c.3989ATCAAGGCG[1] (p.1330DQG[1])
NM_001845.6(COL4A1):c.3992A>G (p.Gln1331Arg)
NM_001845.6(COL4A1):c.3995G>A (p.Gly1332Asp) rs1877331560
NM_001845.6(COL4A1):c.3999T>C (p.Asp1333=)
NM_001845.6(COL4A1):c.39C>T (p.Pro13=)
NM_001845.6(COL4A1):c.4001_4002delinsGC (p.Gln1334Arg)
NM_001845.6(COL4A1):c.4002A>C (p.Gln1334His) rs3742207
NM_001845.6(COL4A1):c.4002A>T (p.Gln1334His)
NM_001845.6(COL4A1):c.4006G>A (p.Val1336Ile)
NM_001845.6(COL4A1):c.4007T>C (p.Val1336Ala)
NM_001845.6(COL4A1):c.4021+14T>A rs755709828
NM_001845.6(COL4A1):c.4021+15T>A
NM_001845.6(COL4A1):c.4021+2T>C
NM_001845.6(COL4A1):c.4022-18C>A rs778889500
NM_001845.6(COL4A1):c.4022-18C>T
NM_001845.6(COL4A1):c.4022-20T>A
NM_001845.6(COL4A1):c.4022-3C>T
NM_001845.6(COL4A1):c.4022-511A>C rs35185062
NM_001845.6(COL4A1):c.4022-7C>T
NM_001845.6(COL4A1):c.4028C>T (p.Pro1343Leu)
NM_001845.6(COL4A1):c.402G>A (p.Pro134=) rs761538161
NM_001845.6(COL4A1):c.4036C>T (p.Pro1346Ser)
NM_001845.6(COL4A1):c.4049G>A (p.Gly1350Asp) rs2139149340
NM_001845.6(COL4A1):c.4055A>G (p.Tyr1352Cys)
NM_001845.6(COL4A1):c.4057G>A (p.Asp1353Asn)
NM_001845.6(COL4A1):c.4058A>G (p.Asp1353Gly)
NM_001845.6(COL4A1):c.4059C>T (p.Asp1353=)
NM_001845.6(COL4A1):c.4067A>G (p.Lys1356Arg)
NM_001845.6(COL4A1):c.4074G>A (p.Glu1358=)
NM_001845.6(COL4A1):c.4074G>T (p.Glu1358Asp)
NM_001845.6(COL4A1):c.4077C>T (p.Pro1359=)
NM_001845.6(COL4A1):c.4084C>T (p.Pro1362Ser)
NM_001845.6(COL4A1):c.4101C>G (p.Pro1367=)
NM_001845.6(COL4A1):c.4104A>G (p.Pro1368=)
NM_001845.6(COL4A1):c.4121A>C (p.Gln1374Pro)
NM_001845.6(COL4A1):c.4129C>T (p.Pro1377Ser) rs1566342407
NM_001845.6(COL4A1):c.4136C>T (p.Pro1379Leu)
NM_001845.6(COL4A1):c.4144C>G (p.Gln1382Glu)
NM_001845.6(COL4A1):c.4146G>A (p.Gln1382=)
NM_001845.6(COL4A1):c.4146G>C (p.Gln1382His)
NM_001845.6(COL4A1):c.4150+14G>A
NM_001845.6(COL4A1):c.4150+1G>A rs2139149159
NM_001845.6(COL4A1):c.4150+201del rs11289908
NM_001845.6(COL4A1):c.4150+7A>G
NM_001845.6(COL4A1):c.4150+9G>A
NM_001845.6(COL4A1):c.4150+9G>C
NM_001845.6(COL4A1):c.4151-10T>C
NM_001845.6(COL4A1):c.4151-18A>G
NM_001845.6(COL4A1):c.4153G>A (p.Val1385Ile)
NM_001845.6(COL4A1):c.4173A>G (p.Ile1391Met) rs1414773161
NM_001845.6(COL4A1):c.4185A>C (p.Pro1395=)
NM_001845.6(COL4A1):c.4190T>A (p.Ile1397Asn)
NM_001845.6(COL4A1):c.4208C>T (p.Ala1403Val)
NM_001845.6(COL4A1):c.4213G>A (p.Gly1405Ser) rs1877181545
NM_001845.6(COL4A1):c.4216C>A (p.Gln1406Lys)
NM_001845.6(COL4A1):c.4235C>A (p.Pro1412His) rs2139147388
NM_001845.6(COL4A1):c.4237G>A (p.Ala1413Thr)
NM_001845.6(COL4A1):c.4239C>T (p.Ala1413=)
NM_001845.6(COL4A1):c.4240G>A (p.Gly1414Arg)
NM_001845.6(COL4A1):c.4249+10G>A
NM_001845.6(COL4A1):c.4249+137G>C rs2298240
NM_001845.6(COL4A1):c.4249+17C>T
NM_001845.6(COL4A1):c.4249+4G>C
NM_001845.6(COL4A1):c.4249+9C>A
NM_001845.6(COL4A1):c.4249+9C>G
NM_001845.6(COL4A1):c.4250-16G>T
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.4250-9A>G
NM_001845.6(COL4A1):c.4252C>T (p.Pro1418Ser)
NM_001845.6(COL4A1):c.4256G>A (p.Arg1419Lys)
NM_001845.6(COL4A1):c.4260A>G (p.Gly1420=) rs2139146289
NM_001845.6(COL4A1):c.4272A>C (p.Pro1424=)
NM_001845.6(COL4A1):c.4273C>T (p.Pro1425Ser)
NM_001845.6(COL4A1):c.4281C>T (p.Pro1427=) rs769089749
NM_001845.6(COL4A1):c.4282G>A (p.Asp1428Asn)
NM_001845.6(COL4A1):c.4282G>T (p.Asp1428Tyr)
NM_001845.6(COL4A1):c.4290G>C (p.Leu1430Phe)
NM_001845.6(COL4A1):c.4306C>G (p.Pro1436Ala)
NM_001845.6(COL4A1):c.430G>T (p.Ala144Ser) rs778175625
NM_001845.6(COL4A1):c.4327G>C (p.Asp1443His)
NM_001845.6(COL4A1):c.4347C>A (p.Thr1449=)
NM_001845.6(COL4A1):c.4352A>G (p.His1451Arg)
NM_001845.6(COL4A1):c.4354A>G (p.Ser1452Gly) rs2139146183
NM_001845.6(COL4A1):c.4363A>G (p.Ile1455Val)
NM_001845.6(COL4A1):c.4372C>T (p.Pro1458Ser)
NM_001845.6(COL4A1):c.4373C>A (p.Pro1458Gln) rs2139146160
NM_001845.6(COL4A1):c.4394A>G (p.Lys1465Arg)
NM_001845.6(COL4A1):c.4399C>G (p.Leu1467Val)
NM_001845.6(COL4A1):c.4408G>A (p.Gly1470Arg) rs2139146124
NM_001845.6(COL4A1):c.4408G>C (p.Gly1470Arg)
NM_001845.6(COL4A1):c.4408G>T (p.Gly1470Trp) rs2139146124
NM_001845.6(COL4A1):c.4409G>A (p.Gly1470Glu) rs2139146120
NM_001845.6(COL4A1):c.4409G>C (p.Gly1470Ala) rs2139146120
NM_001845.6(COL4A1):c.441+14A>G
NM_001845.6(COL4A1):c.441+18A>G
NM_001845.6(COL4A1):c.441+19G>A
NM_001845.6(COL4A1):c.441+9A>G
NM_001845.6(COL4A1):c.4410G>T (p.Gly1470=)
NM_001845.6(COL4A1):c.4411T>C (p.Tyr1471His)
NM_001845.6(COL4A1):c.441C>G (p.Pro147=)
NM_001845.6(COL4A1):c.442-14A>T
NM_001845.6(COL4A1):c.442-1G>C
NM_001845.6(COL4A1):c.442-8T>C
NM_001845.6(COL4A1):c.4424A>T (p.Tyr1475Phe) rs2139146108
NM_001845.6(COL4A1):c.4426G>A (p.Val1476Met)
NM_001845.6(COL4A1):c.4434C>T (p.Gly1478=) rs1877121184
NM_001845.6(COL4A1):c.4441C>A (p.Arg1481=)
NM_001845.6(COL4A1):c.4454A>G (p.Gln1485Arg)
NM_001845.6(COL4A1):c.445C>A (p.Pro149Thr)
NM_001845.6(COL4A1):c.4462+14A>G
NM_001845.6(COL4A1):c.4462+20A>G
NM_001845.6(COL4A1):c.4462+4A>G rs2139146049
NM_001845.6(COL4A1):c.4462+9C>G
NM_001845.6(COL4A1):c.4463-10C>A
NM_001845.6(COL4A1):c.4463-299_4463-298dup rs113466690
NM_001845.6(COL4A1):c.4463-5T>C
NM_001845.6(COL4A1):c.4467G>A (p.Thr1489=)
NM_001845.6(COL4A1):c.4469C>T (p.Ala1490Val)
NM_001845.6(COL4A1):c.4471G>A (p.Gly1491Ser)
NM_001845.6(COL4A1):c.4471G>T (p.Gly1491Cys)
NM_001845.6(COL4A1):c.4481T>A (p.Leu1494Gln)
NM_001845.6(COL4A1):c.4483C>T (p.Arg1495Cys)
NM_001845.6(COL4A1):c.4484G>A (p.Arg1495His)
NM_001845.6(COL4A1):c.4494C>G (p.Ser1498Arg)
NM_001845.6(COL4A1):c.44C>T (p.Ala15Val)
NM_001845.6(COL4A1):c.4517A>G (p.Asn1506Ser)
NM_001845.6(COL4A1):c.4524C>A (p.Asn1508Lys)
NM_001845.6(COL4A1):c.452G>A (p.Gly151Asp) rs2139204356
NM_001845.6(COL4A1):c.4544C>T (p.Ser1515Leu)
NM_001845.6(COL4A1):c.4553A>G (p.Asp1518Gly)
NM_001845.6(COL4A1):c.4554C>T (p.Asp1518=)
NM_001845.6(COL4A1):c.4572C>T (p.Ser1524=)
NM_001845.6(COL4A1):c.4573A>G (p.Thr1525Ala) rs2138427724
NM_001845.6(COL4A1):c.4582C>T (p.Pro1528Ser)
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu) rs1085307967
NM_001845.6(COL4A1):c.4585A>G (p.Met1529Val)
NM_001845.6(COL4A1):c.4586T>A (p.Met1529Lys)
NM_001845.6(COL4A1):c.4588C>T (p.Pro1530Ser)
NM_001845.6(COL4A1):c.4591A>G (p.Met1531Val) rs1343193102
NM_001845.6(COL4A1):c.4593G>A (p.Met1531Ile)
NM_001845.6(COL4A1):c.4594T>G (p.Ser1532Ala)
NM_001845.6(COL4A1):c.4597A>G (p.Met1533Val)
NM_001845.6(COL4A1):c.4610C>T (p.Thr1537Met)
NM_001845.6(COL4A1):c.4611G>A (p.Thr1537=)
NM_001845.6(COL4A1):c.4614G>A (p.Gly1538=) rs2138427633
NM_001845.6(COL4A1):c.4617A>G (p.Glu1539=) rs1469331974
NM_001845.6(COL4A1):c.4620C>T (p.Asn1540=)
NM_001845.6(COL4A1):c.4621A>G (p.Ile1541Val)
NM_001845.6(COL4A1):c.4625G>A (p.Arg1542Lys)
NM_001845.6(COL4A1):c.4630T>C (p.Phe1544Leu) rs2138427595
NM_001845.6(COL4A1):c.463A>G (p.Met155Val)
NM_001845.6(COL4A1):c.4640+10G>C
NM_001845.6(COL4A1):c.4640+19G>T
NM_001845.6(COL4A1):c.4640+4A>G
NM_001845.6(COL4A1):c.4641-12C>T
NM_001845.6(COL4A1):c.4641-32G>A rs617111
NM_001845.6(COL4A1):c.4641-9C>T
NM_001845.6(COL4A1):c.464T>C (p.Met155Thr)
NM_001845.6(COL4A1):c.4652G>A (p.Cys1551Tyr)
NM_001845.6(COL4A1):c.4652G>T (p.Cys1551Phe) rs1594530228
NM_001845.6(COL4A1):c.4667T>A (p.Met1556Lys)
NM_001845.6(COL4A1):c.4674G>A (p.Met1558Ile)
NM_001845.6(COL4A1):c.4678G>A (p.Val1560Met)
NM_001845.6(COL4A1):c.467A>C (p.Lys156Thr)
NM_001845.6(COL4A1):c.468+11T>C rs2139204324
NM_001845.6(COL4A1):c.468+13T>G
NM_001845.6(COL4A1):c.468+18T>A
NM_001845.6(COL4A1):c.468+4C>G
NM_001845.6(COL4A1):c.468+5A>G
NM_001845.6(COL4A1):c.468+5ATTTT[2] rs3832900
NM_001845.6(COL4A1):c.468+5ATTTT[4]
NM_001845.6(COL4A1):c.468+7T>C
NM_001845.6(COL4A1):c.468+9T>C
NM_001845.6(COL4A1):c.4683C>T (p.His1561=)
NM_001845.6(COL4A1):c.469-10C>T
NM_001845.6(COL4A1):c.469-191C>T rs76574181
NM_001845.6(COL4A1):c.469-26_469-18dup
NM_001845.6(COL4A1):c.469-7C>A
NM_001845.6(COL4A1):c.4692C>A (p.Thr1564=)
NM_001845.6(COL4A1):c.4693A>G (p.Ile1565Val)
NM_001845.6(COL4A1):c.4693A>T (p.Ile1565Phe) rs1876733964
NM_001845.6(COL4A1):c.469G>A (p.Gly157Ser)
NM_001845.6(COL4A1):c.46C>G (p.Leu16Val)
NM_001845.6(COL4A1):c.4711C>T (p.Pro1571Ser)
NM_001845.6(COL4A1):c.4712C>A (p.Pro1571His)
NM_001845.6(COL4A1):c.4718G>C (p.Gly1573Ala)
NM_001845.6(COL4A1):c.4724C>T (p.Ser1575Phe)
NM_001845.6(COL4A1):c.4725C>A (p.Ser1575=)
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
NM_001845.6(COL4A1):c.4731G>C (p.Leu1577=)
NM_001845.6(COL4A1):c.4737C>T (p.Ile1579=)
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser) rs113994114
NM_001845.6(COL4A1):c.4740C>T (p.Gly1580=)
NM_001845.6(COL4A1):c.4744T>C (p.Ser1582Pro) rs1594530090
NM_001845.6(COL4A1):c.4749T>G (p.Phe1583Leu)
NM_001845.6(COL4A1):c.474T>G (p.Asp158Glu)
NM_001845.6(COL4A1):c.4755+13G>C rs2138420847
NM_001845.6(COL4A1):c.4755+14G>A
NM_001845.6(COL4A1):c.4755+19G>A
NM_001845.6(COL4A1):c.4755+1G>T rs1332002484
NM_001845.6(COL4A1):c.4755+60G>C rs2275841
NM_001845.6(COL4A1):c.4756-15G>A
NM_001845.6(COL4A1):c.4756-16C>T
NM_001845.6(COL4A1):c.4756-18C>G
NM_001845.6(COL4A1):c.4756-6C>T rs2138417695
NM_001845.6(COL4A1):c.4757A>T (p.His1586Leu) rs1566332829
NM_001845.6(COL4A1):c.4764C>G (p.Ser1588Arg) rs779680003
NM_001845.6(COL4A1):c.4764C>T (p.Ser1588=)
NM_001845.6(COL4A1):c.4765G>A (p.Ala1589Thr)
NM_001845.6(COL4A1):c.4770T>C (p.Gly1590=)
NM_001845.6(COL4A1):c.4770T>G (p.Gly1590=) rs1339688171
NM_001845.6(COL4A1):c.4773A>G (p.Ala1591=)
NM_001845.6(COL4A1):c.4775A>G (p.Glu1592Gly)
NM_001845.6(COL4A1):c.4778G>C (p.Gly1593Ala)
NM_001845.6(COL4A1):c.4778G>T (p.Gly1593Val)
NM_001845.6(COL4A1):c.4779C>T (p.Gly1593=)
NM_001845.6(COL4A1):c.4795G>A (p.Ala1599Thr)
NM_001845.6(COL4A1):c.4797G>A (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4797G>T (p.Ala1599=) rs146638269
NM_001845.6(COL4A1):c.4800C>A (p.Ser1600=) rs650724
NM_001845.6(COL4A1):c.4801C>G (p.Pro1601Ala) rs1174157767
NM_001845.6(COL4A1):c.4815G>C (p.Leu1605=)
NM_001845.6(COL4A1):c.481G>A (p.Glu161Lys) rs1447711802
NM_001845.6(COL4A1):c.4821G>A (p.Glu1607=)
NM_001845.6(COL4A1):c.4832C>T (p.Ala1611Val)
NM_001845.6(COL4A1):c.4833G>A (p.Ala1611=)
NM_001845.6(COL4A1):c.483G>T (p.Glu161Asp)
NM_001845.6(COL4A1):c.4842C>T (p.Ile1614=)
NM_001845.6(COL4A1):c.4852G>A (p.Gly1618Ser)
NM_001845.6(COL4A1):c.4855C>T (p.Arg1619Cys)
NM_001845.6(COL4A1):c.4862C>A (p.Thr1621Asn)
NM_001845.6(COL4A1):c.4870T>C (p.Tyr1624His)
NM_001845.6(COL4A1):c.4875C>T (p.Tyr1625=)
NM_001845.6(COL4A1):c.4877C>G (p.Ala1626Gly)
NM_001845.6(COL4A1):c.4899C>T (p.Leu1633=)
NM_001845.6(COL4A1):c.4900G>A (p.Ala1634Thr)
NM_001845.6(COL4A1):c.4906A>G (p.Ile1636Val)
NM_001845.6(COL4A1):c.4907T>C (p.Ile1636Thr)
NM_001845.6(COL4A1):c.4912A>C (p.Arg1638=) rs1594527347
NM_001845.6(COL4A1):c.4917C>A (p.Ser1639Arg)
NM_001845.6(COL4A1):c.4917C>T (p.Ser1639=)
NM_001845.6(COL4A1):c.4918G>A (p.Glu1640Lys)
NM_001845.6(COL4A1):c.4918G>T (p.Glu1640Ter)
NM_001845.6(COL4A1):c.4920G>A (p.Glu1640=)
NM_001845.6(COL4A1):c.4923G>A (p.Met1641Ile)
NM_001845.6(COL4A1):c.4927A>C (p.Lys1643Gln)
NM_001845.6(COL4A1):c.4927A>G (p.Lys1643Glu)
NM_001845.6(COL4A1):c.4928+13A>C
NM_001845.6(COL4A1):c.4928+13A>G
NM_001845.6(COL4A1):c.4928+226C>T rs2298237
NM_001845.6(COL4A1):c.4928+2T>C rs2138417443
NM_001845.6(COL4A1):c.4928+5G>A
NM_001845.6(COL4A1):c.4929-16C>T
NM_001845.6(COL4A1):c.4929-20G>T
NM_001845.6(COL4A1):c.4929-4T>C
NM_001845.6(COL4A1):c.4929-7G>A
NM_001845.6(COL4A1):c.4929-9G>C
NM_001845.6(COL4A1):c.4929G>A (p.Lys1643=)
NM_001845.6(COL4A1):c.4937C>T (p.Thr1646Met)
NM_001845.6(COL4A1):c.4938G>A (p.Thr1646=)
NM_001845.6(COL4A1):c.4941G>T (p.Pro1647=)
NM_001845.6(COL4A1):c.4946C>G (p.Thr1649Ser)
NM_001845.6(COL4A1):c.4949T>C (p.Leu1650Ser) rs2138415466
NM_001845.6(COL4A1):c.494A>G (p.His165Arg) rs200805263
NM_001845.6(COL4A1):c.4957G>C (p.Gly1653Arg)
NM_001845.6(COL4A1):c.495T>A (p.His165Gln) rs762125888
NM_001845.6(COL4A1):c.495T>C (p.His165=)
NM_001845.6(COL4A1):c.4961A>T (p.Glu1654Val) rs1876444347
NM_001845.6(COL4A1):c.4966C>A (p.Arg1656Ser)
NM_001845.6(COL4A1):c.4966C>T (p.Arg1656Cys) rs377350886
NM_001845.6(COL4A1):c.4968C>T (p.Arg1656=) rs1594525556
NM_001845.6(COL4A1):c.4971G>T (p.Thr1657=)
NM_001845.6(COL4A1):c.4972C>T (p.His1658Tyr)
NM_001845.6(COL4A1):c.4974C>T (p.His1658=)
NM_001845.6(COL4A1):c.4975G>A (p.Val1659Ile)
NM_001845.6(COL4A1):c.4975G>C (p.Val1659Leu)
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys) rs1555300086
NM_001845.6(COL4A1):c.4982G>A (p.Arg1661His)
NM_001845.6(COL4A1):c.4984T>C (p.Cys1662Arg) rs2138415394
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr) rs794727751
NM_001845.6(COL4A1):c.4996A>G (p.Met1666Val) rs1301142454
NM_001845.6(COL4A1):c.4998G>A (p.Met1666Ile)
NM_001845.6(COL4A1):c.5000GAA[1] (p.Arg1668del) rs1294802953
NM_001845.6(COL4A1):c.5003G>A (p.Arg1668Lys)
NM_001845.6(COL4A1):c.5003G>C (p.Arg1668Thr)
NM_001845.6(COL4A1):c.5007A>G (p.Thr1669=)
NM_001845.6(COL4A1):c.518G>C (p.Gly173Ala)
NM_001845.6(COL4A1):c.525A>C (p.Arg175Ser)
NM_001845.6(COL4A1):c.536G>C (p.Gly179Ala)
NM_001845.6(COL4A1):c.539T>G (p.Ile180Ser)
NM_001845.6(COL4A1):c.543A>G (p.Pro181=)
NM_001845.6(COL4A1):c.546G>A (p.Gly182=)
NM_001845.6(COL4A1):c.551C>T (p.Pro184Leu)
NM_001845.6(COL4A1):c.552+13T>C
NM_001845.6(COL4A1):c.553-16T>C
NM_001845.6(COL4A1):c.553-19T>C
NM_001845.6(COL4A1):c.553-20_553-19del
NM_001845.6(COL4A1):c.553-3T>C
NM_001845.6(COL4A1):c.554G>A (p.Gly185Asp) rs1566376798
NM_001845.6(COL4A1):c.554G>C (p.Gly185Ala) rs1566376798
NM_001845.6(COL4A1):c.557C>T (p.Pro186Leu)
NM_001845.6(COL4A1):c.559C>A (p.Pro187Thr) rs1064795868
NM_001845.6(COL4A1):c.584C>G (p.Pro195Arg) rs2139202272
NM_001845.6(COL4A1):c.585T>C (p.Pro195=)
NM_001845.6(COL4A1):c.586G>C (p.Val196Leu)
NM_001845.6(COL4A1):c.589G>T (p.Gly197Trp) rs2139202259
NM_001845.6(COL4A1):c.5G>A (p.Gly2Glu)
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.614C>T (p.Pro205Leu)
NM_001845.6(COL4A1):c.615+11G>C
NM_001845.6(COL4A1):c.615+14G>T
NM_001845.6(COL4A1):c.615+19C>G
NM_001845.6(COL4A1):c.616-10T>A
NM_001845.6(COL4A1):c.616-11_616-10delinsCG
NM_001845.6(COL4A1):c.616-13C>T
NM_001845.6(COL4A1):c.616-16A>G
NM_001845.6(COL4A1):c.616-5C>T
NM_001845.6(COL4A1):c.619C>A (p.Pro207Thr) rs181845921
NM_001845.6(COL4A1):c.619C>T (p.Pro207Ser)
NM_001845.6(COL4A1):c.626_627insT (p.Pro211fs) rs1566376109
NM_001845.6(COL4A1):c.62A>T (p.Glu21Val) rs2139331714
NM_001845.6(COL4A1):c.631C>T (p.Pro211Ser)
NM_001845.6(COL4A1):c.633C>A (p.Pro211=)
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.6(COL4A1):c.634G>C (p.Gly212Arg)
NM_001845.6(COL4A1):c.64C>T (p.His22Tyr)
NM_001845.6(COL4A1):c.651+118_651+119insTCTT rs35638294
NM_001845.6(COL4A1):c.651+17T>G
NM_001845.6(COL4A1):c.651+18T>G
NM_001845.6(COL4A1):c.651+230_651+231del rs10590627
NM_001845.6(COL4A1):c.651+91_651+92insTG rs35906431
NM_001845.6(COL4A1):c.652-16A>G
NM_001845.6(COL4A1):c.652-6C>G
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)
NM_001845.6(COL4A1):c.674A>G (p.Gln225Arg) rs2139200708
NM_001845.6(COL4A1):c.679C>T (p.Pro227Ser)
NM_001845.6(COL4A1):c.67A>G (p.Ser23Gly)
NM_001845.6(COL4A1):c.686del (p.Gly229fs)
NM_001845.6(COL4A1):c.692A>T (p.Lys231Met)
NM_001845.6(COL4A1):c.693+14G>T
NM_001845.6(COL4A1):c.693+98_693+99del rs35092560
NM_001845.6(COL4A1):c.694-10A>C
NM_001845.6(COL4A1):c.694-16A>G
NM_001845.6(COL4A1):c.694-19T>C
NM_001845.6(COL4A1):c.694-6C>T
NM_001845.6(COL4A1):c.706G>A (p.Val236Ile)
NM_001845.6(COL4A1):c.70C>G (p.Arg24Gly)
NM_001845.6(COL4A1):c.70C>T (p.Arg24Trp)
NM_001845.6(COL4A1):c.719C>A (p.Pro240Gln) rs2139199218
NM_001845.6(COL4A1):c.71G>C (p.Arg24Pro)
NM_001845.6(COL4A1):c.720A>T (p.Pro240=)
NM_001845.6(COL4A1):c.74C>G (p.Ala25Gly)
NM_001845.6(COL4A1):c.75C>T (p.Ala25=)
NM_001845.6(COL4A1):c.761T>C (p.Phe254Ser)
NM_001845.6(COL4A1):c.763G>A (p.Ala255Thr)
NM_001845.6(COL4A1):c.780+3A>G
NM_001845.6(COL4A1):c.781-13C>G
NM_001845.6(COL4A1):c.781-13C>T
NM_001845.6(COL4A1):c.781-16T>C
NM_001845.6(COL4A1):c.781-18TC[2]
NM_001845.6(COL4A1):c.781-226G>A rs541055731
NM_001845.6(COL4A1):c.781-4T>G
NM_001845.6(COL4A1):c.781-6T>A
NM_001845.6(COL4A1):c.781-79del rs60585275
NM_001845.6(COL4A1):c.781-7C>T
NM_001845.6(COL4A1):c.781-90dup rs60585275
NM_001845.6(COL4A1):c.783C>T (p.Gly261=) rs2139198480
NM_001845.6(COL4A1):c.791G>A (p.Gly264Asp)
NM_001845.6(COL4A1):c.7C>T (p.Pro3Ser)
NM_001845.6(COL4A1):c.801A>C (p.Gly267=) rs1566374260
NM_001845.6(COL4A1):c.803T>A (p.Phe268Tyr) rs2139198460
NM_001845.6(COL4A1):c.807+9T>C
NM_001845.6(COL4A1):c.808-16T>C rs750121255
NM_001845.6(COL4A1):c.808-16T>G
NM_001845.6(COL4A1):c.808-20T>G
NM_001845.6(COL4A1):c.808-29_808-28dup rs537338028
NM_001845.6(COL4A1):c.808-7C>A rs9588116
NM_001845.6(COL4A1):c.808-7C>G rs9588116
NM_001845.6(COL4A1):c.808-8C>T
NM_001845.6(COL4A1):c.808-8_808-7delinsTG rs2139198251
NM_001845.6(COL4A1):c.813G>A (p.Met271Ile)
NM_001845.6(COL4A1):c.814C>T (p.Pro272Ser)
NM_001845.6(COL4A1):c.818G>C (p.Gly273Ala)
NM_001845.6(COL4A1):c.822C>T (p.Val274=)
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
NM_001845.6(COL4A1):c.829A>G (p.Lys277Glu)
NM_001845.6(COL4A1):c.838C>T (p.Pro280Ser)
NM_001845.6(COL4A1):c.84+9C>G rs772306069
NM_001845.6(COL4A1):c.840C>G (p.Pro280=)
NM_001845.6(COL4A1):c.840C>T (p.Pro280=)
NM_001845.6(COL4A1):c.843A>C (p.Gly281=)
NM_001845.6(COL4A1):c.85-13C>A
NM_001845.6(COL4A1):c.85-14T>C
NM_001845.6(COL4A1):c.85-15T>C
NM_001845.6(COL4A1):c.85-18G>A
NM_001845.6(COL4A1):c.85-19A>G
NM_001845.6(COL4A1):c.85-227del rs146789274
NM_001845.6(COL4A1):c.85-2A>T
NM_001845.6(COL4A1):c.85-4C>T
NM_001845.6(COL4A1):c.857G>C (p.Arg286Thr)
NM_001845.6(COL4A1):c.859-12T>C
NM_001845.6(COL4A1):c.859-15A>G
NM_001845.6(COL4A1):c.859-17A>C rs1485417066
NM_001845.6(COL4A1):c.859-49C>T rs186146235
NM_001845.6(COL4A1):c.862_866del (p.Lys288fs) rs1566373199
NM_001845.6(COL4A1):c.868G>A (p.Gly290Arg)
NM_001845.6(COL4A1):c.876T>C (p.Asp292=)
NM_001845.6(COL4A1):c.891A>G (p.Glu297=)
NM_001845.6(COL4A1):c.896G>T (p.Gly299Val)
NM_001845.6(COL4A1):c.897del (p.Ser300fs)
NM_001845.6(COL4A1):c.903+10_903+11insTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
NM_001845.6(COL4A1):c.903+10dup
NM_001845.6(COL4A1):c.903+18_903+19delinsAG
NM_001845.6(COL4A1):c.903+1G>A
NM_001845.6(COL4A1):c.903+23_903+24insTTCTCTGTGGTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTTCTGGCGCCCGCCAATACGCCCGGCTTATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
NM_001845.6(COL4A1):c.903+2dup rs1162426605
NM_001845.6(COL4A1):c.903+7G>T
NM_001845.6(COL4A1):c.903+8_903+9insAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
NM_001845.6(COL4A1):c.903+8_903+9insATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATG
NM_001845.6(COL4A1):c.904-14C>G rs370532499
NM_001845.6(COL4A1):c.904-14C>T
NM_001845.6(COL4A1):c.904-16C>G
NM_001845.6(COL4A1):c.904-6T>A
NM_001845.6(COL4A1):c.904-8G>A rs767732094
NM_001845.6(COL4A1):c.904-8G>T
NM_001845.6(COL4A1):c.912T>A (p.Pro304=) rs770951433
NM_001845.6(COL4A1):c.919C>T (p.Pro307Ser)
NM_001845.6(COL4A1):c.928C>A (p.Pro310Thr)
NM_001845.6(COL4A1):c.92G>T (p.Cys31Phe)
NM_001845.6(COL4A1):c.930A>C (p.Pro310=)
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719
NM_001845.6(COL4A1):c.944G>A (p.Arg315His)
NM_001845.6(COL4A1):c.944G>T (p.Arg315Leu) rs768184025
NM_001845.6(COL4A1):c.948G>A (p.Gln316=)
NM_001845.6(COL4A1):c.954G>A (p.Pro318=) rs779515095
NM_001845.6(COL4A1):c.957+14C>T
NM_001845.6(COL4A1):c.957+19G>A
NM_001845.6(COL4A1):c.958-10T>C rs766495795
NM_001845.6(COL4A1):c.958-131T>C rs648263
NM_001845.6(COL4A1):c.958-18T>G
NM_001845.6(COL4A1):c.958-242_958-239del rs58390470
NM_001845.6(COL4A1):c.958-5del
NM_001845.6(COL4A1):c.958-5dup rs749003041
NM_001845.6(COL4A1):c.958-9del
NM_001845.6(COL4A1):c.961G>A (p.Glu321Lys) rs2139194019
NM_001845.6(COL4A1):c.964A>G (p.Lys322Glu)
NM_001845.6(COL4A1):c.970G>A (p.Glu324Lys)
NM_001845.6(COL4A1):c.974C>T (p.Ala325Val)
NM_001845.6(COL4A1):c.97G>T (p.Gly33Cys)
NM_001845.6(COL4A1):c.989C>T (p.Pro330Leu)
NM_001845.6(COL4A1):c.98G>C (p.Gly33Ala)
NM_001845.6(COL4A1):c.995G>C (p.Gly332Ala) rs1228232315
NM_001845.6(COL4A1):c.997A>G (p.Ile333Val)
NM_001845.6(COL4A1):c.999+236C>A rs538390
Single allele

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