ClinVar Miner

List of variants in gene COL4A2 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 843
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HGVS dbSNP gnomAD frequency
NM_001846.4(COL4A2):c.4083T>C (p.Thr1361=) rs438758 0.98496
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.4290C>T (p.Phe1430=) rs4771683 0.94122
NM_001846.4(COL4A2):c.297G>A (p.Thr99=) rs4238272 0.93420
NM_001846.4(COL4A2):c.4515A>G (p.Pro1505=) rs445348 0.84408
NM_001846.4(COL4A2):c.1550G>A (p.Arg517Lys) rs7990383 0.59592
NM_001846.4(COL4A2):c.1777-7C>T rs3803236 0.58770
NM_001846.4(COL4A2):c.1488G>A (p.Pro496=) rs7990214 0.58092
NM_001846.4(COL4A2):c.1008C>T (p.Pro336=) rs4103 0.48817
NM_001846.4(COL4A2):c.2587+8C>T rs2281974 0.38939
NM_001846.4(COL4A2):c.4040-19C>T rs4773198 0.37621
NM_001846.4(COL4A2):c.1179C>T (p.Ile393=) rs74941798 0.30311
NM_001846.4(COL4A2):c.1095G>A (p.Pro365=) rs76425569 0.28294
NM_001846.4(COL4A2):c.181-27458T>C rs9515203 0.26315
NM_001846.4(COL4A2):c.2588-11C>T rs9521803 0.25564
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.2759-5T>C rs3803228 0.18857
NM_001846.4(COL4A2):c.2903-12A>G rs2296853 0.13866
NM_001846.4(COL4A2):c.2048G>C (p.Gly683Ala) rs3803230 0.10158
NM_001846.4(COL4A2):c.4617G>A (p.Ala1539=) rs391859 0.09357
NM_001846.4(COL4A2):c.912+9C>T rs7983979 0.08329
NM_001846.4(COL4A2):c.3634+4C>T rs2274544 0.07052
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.549+15G>C rs74124318 0.03560
NM_001846.4(COL4A2):c.4195G>A (p.Val1399Ile) rs45520539 0.03076
NM_001846.4(COL4A2):c.594C>T (p.Pro198=) rs74124319 0.02997
NM_001846.4(COL4A2):c.315+19T>C rs74967960 0.02658
NM_001846.4(COL4A2):c.315+14G>T rs78713113 0.02155
NM_001846.4(COL4A2):c.649-16C>T rs56269522 0.01248
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
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.888A>G (p.Gly296=) rs114482753 0.00777
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.3634+13G>A rs188658233 0.00491
NM_001846.4(COL4A2):c.1655C>A (p.Thr552Lys) rs112262533 0.00490
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.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.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.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.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.1911C>T (p.Asp637=) rs764883197 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.1108G>C (p.Ala370Pro) rs909040713 0.00002
NM_001846.4(COL4A2):c.1113A>G (p.Gln371=) rs781075845 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.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.3993C>T (p.Ser1331=) rs754253271 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.2095+5T>C rs376823280 0.00001
NM_001846.4(COL4A2):c.2176G>C (p.Gly726Arg) rs770946467 0.00001
NM_001846.4(COL4A2):c.2590C>T (p.Leu864=) rs903526900 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.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+5G>A rs1883426997 0.00001
NM_001846.4(COL4A2):c.3817C>G (p.Pro1273Ala) rs201442362 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.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.4738G>A (p.Glu1580Lys) rs767665017 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.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.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
NC_000013.10:g.(?_111098156)_(111111301_?)del
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.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.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.109A>C (p.Lys37Gln)
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>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.1190-4T>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.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.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.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.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.1329T>C (p.Pro443=)
NM_001846.4(COL4A2):c.1339+2T>C
NM_001846.4(COL4A2):c.1359del (p.Gly454fs)
NM_001846.4(COL4A2):c.1364C>T (p.Ala455Val) rs2139490864
NM_001846.4(COL4A2):c.1432+7A>G rs1594082204
NM_001846.4(COL4A2):c.1433-13C>T
NM_001846.4(COL4A2):c.1433-18C>T rs1881884080
NM_001846.4(COL4A2):c.1438G>A (p.Ala480Thr)
NM_001846.4(COL4A2):c.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.1467C>T (p.Asp489=)
NM_001846.4(COL4A2):c.1485T>G (p.Leu495=)
NM_001846.4(COL4A2):c.1486C>T (p.Pro496Ser)
NM_001846.4(COL4A2):c.1507_1513del (p.Gly503fs)
NM_001846.4(COL4A2):c.1513G>T (p.Ala505Ser)
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.1570_1571del (p.Gly524fs)
NM_001846.4(COL4A2):c.1597-4A>G
NM_001846.4(COL4A2):c.1597-6C>T
NM_001846.4(COL4A2):c.1611C>G (p.Asn537Lys)
NM_001846.4(COL4A2):c.1613T>C (p.Ile538Thr)
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.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.1725C>T (p.Gly575=)
NM_001846.4(COL4A2):c.1733G>C (p.Gly578Ala)
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.1775C>T (p.Pro592Leu) rs2139499327
NM_001846.4(COL4A2):c.1776+20_1776+21delinsAA
NM_001846.4(COL4A2):c.1784G>C (p.Gly595Ala)
NM_001846.4(COL4A2):c.181-17C>A
NM_001846.4(COL4A2):c.181-9T>C
NM_001846.4(COL4A2):c.1824A>G (p.Ile608Met)
NM_001846.4(COL4A2):c.1833G>A (p.Thr611=)
NM_001846.4(COL4A2):c.1864G>T (p.Gly622Ter)
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.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.1978+20T>C
NM_001846.4(COL4A2):c.1979-4C>G
NM_001846.4(COL4A2):c.2001G>C (p.Arg667Ser)
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+19G>A
NM_001846.4(COL4A2):c.2038+9G>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.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.2086G>A (p.Gly696Ser)
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.2096-12T>G
NM_001846.4(COL4A2):c.2097T>C (p.Gly699=)
NM_001846.4(COL4A2):c.2133A>T (p.Gly711=)
NM_001846.4(COL4A2):c.2166A>C (p.Pro722=)
NM_001846.4(COL4A2):c.216T>C (p.Asn72=)
NM_001846.4(COL4A2):c.2173G>A (p.Ala725Thr)
NM_001846.4(COL4A2):c.2177G>A (p.Gly726Asp)
NM_001846.4(COL4A2):c.2183A>T (p.Glu728Val)
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.2317C>T (p.Pro773Ser) rs886049976
NM_001846.4(COL4A2):c.2332G>A (p.Gly778Arg)
NM_001846.4(COL4A2):c.2341C>T (p.Pro781Ser)
NM_001846.4(COL4A2):c.2351G>A (p.Arg784Gln)
NM_001846.4(COL4A2):c.2357A>T (p.Asp786Val)
NM_001846.4(COL4A2):c.2376G>A (p.Gln792=)
NM_001846.4(COL4A2):c.2383C>T (p.Leu795Phe) rs1340849111
NM_001846.4(COL4A2):c.2391C>T (p.Gly797=)
NM_001846.4(COL4A2):c.2397C>T (p.Pro799=)
NM_001846.4(COL4A2):c.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.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.253G>A (p.Gly85Arg)
NM_001846.4(COL4A2):c.2552G>T (p.Gly851Val)
NM_001846.4(COL4A2):c.256C>T (p.Arg86Cys)
NM_001846.4(COL4A2):c.2582G>A (p.Arg861His)
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.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.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.2709C>T (p.Ser903=)
NM_001846.4(COL4A2):c.2749G>A (p.Gly917Arg)
NM_001846.4(COL4A2):c.2751G>A (p.Gly917=)
NM_001846.4(COL4A2):c.2758+20C>A
NM_001846.4(COL4A2):c.2759-12T>C
NM_001846.4(COL4A2):c.2759-20T>G
NM_001846.4(COL4A2):c.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.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.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.2840G>T (p.Gly947Val)
NM_001846.4(COL4A2):c.2844G>A (p.Glu948=)
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp) rs754829210
NM_001846.4(COL4A2):c.288C>T (p.Pro96=)
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.2921G>A (p.Gly974Glu)
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.3013C>G (p.Leu1005Val)
NM_001846.4(COL4A2):c.3025+10C>A
NM_001846.4(COL4A2):c.3025+8T>C
NM_001846.4(COL4A2):c.3026-19C>T
NM_001846.4(COL4A2):c.3028A>G (p.Ile1010Val)
NM_001846.4(COL4A2):c.302C>A (p.Pro101His)
NM_001846.4(COL4A2):c.3087C>G (p.Pro1029=) rs201630262
NM_001846.4(COL4A2):c.3087C>T (p.Pro1029=) rs201630262
NM_001846.4(COL4A2):c.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.3207+16T>C
NM_001846.4(COL4A2):c.3207+9del
NM_001846.4(COL4A2):c.3208-11T>C
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.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.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.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>T (p.Gly1091Val) rs2139534208
NM_001846.4(COL4A2):c.3277A>G (p.Ile1093Val)
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.3378A>G (p.Thr1126=)
NM_001846.4(COL4A2):c.3389T>C (p.Ile1130Thr)
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.3455-17G>A
NM_001846.4(COL4A2):c.3455-6C>T
NM_001846.4(COL4A2):c.3466del (p.Gly1155_Leu1156insTer)
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.3499G>A (p.Gly1167Arg)
NM_001846.4(COL4A2):c.349G>A (p.Asp117Asn) rs374976511
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.3563-20G>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.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.361-15T>A
NM_001846.4(COL4A2):c.361-1G>A
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.3635-3C>T
NM_001846.4(COL4A2):c.3648C>T (p.His1216=)
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.3747C>A (p.Asp1249Glu)
NM_001846.4(COL4A2):c.3760+9A>C
NM_001846.4(COL4A2):c.3761-8A>G
NM_001846.4(COL4A2):c.3761-8A>T
NM_001846.4(COL4A2):c.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.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.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.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.3878-3C>T
NM_001846.4(COL4A2):c.3882_3891dup (p.Pro1298fs) rs2139552020
NM_001846.4(COL4A2):c.3884G>A (p.Arg1295Gln)
NM_001846.4(COL4A2):c.3915T>C (p.Ala1305=) rs886049980
NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)
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.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.4064T>C (p.Met1355Thr)
NM_001846.4(COL4A2):c.4083= (p.Thr1361=)
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.4139-20C>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.4176A>G (p.Gly1392=)
NM_001846.4(COL4A2):c.4233C>T (p.Gly1411=)
NM_001846.4(COL4A2):c.4236C>G (p.Pro1412=)
NM_001846.4(COL4A2):c.4248G>A (p.Pro1416=)
NM_001846.4(COL4A2):c.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.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.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.4316C>T (p.Pro1439Leu)
NM_001846.4(COL4A2):c.432A>G (p.Ser144=) rs1594208742
NM_001846.4(COL4A2):c.4354C>T (p.Arg1452Trp)
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+18_4402+43del
NM_001846.4(COL4A2):c.4426C>G (p.Pro1476Ala) rs2139558047
NM_001846.4(COL4A2):c.4450C>T (p.Arg1484Cys)
NM_001846.4(COL4A2):c.4451G>A (p.Arg1484His)
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.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.45-8C>T
NM_001846.4(COL4A2):c.4512C>T (p.Cys1504=)
NM_001846.4(COL4A2):c.4514_4515inv (p.Pro1505Leu)
NM_001846.4(COL4A2):c.4561G>A (p.Glu1521Lys) rs182278784
NM_001846.4(COL4A2):c.4577C>T (p.Ala1526Val)
NM_001846.4(COL4A2):c.4591C>G (p.Leu1531Val)
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.4600G>T (p.Ala1534Ser)
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.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.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+7A>G
NM_001846.4(COL4A2):c.4772C>G (p.Ser1591Cys)
NM_001846.4(COL4A2):c.4784C>G (p.Ala1595Gly)
NM_001846.4(COL4A2):c.4800C>T (p.Ile1600=)
NM_001846.4(COL4A2):c.4803G>A (p.Ala1601=)
NM_001846.4(COL4A2):c.4807C>A (p.His1603Asn)
NM_001846.4(COL4A2):c.4828C>T (p.Pro1610Ser)
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.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.4893G>A (p.Ala1631=)
NM_001846.4(COL4A2):c.4899C>T (p.Asp1633=)
NM_001846.4(COL4A2):c.4903G>A (p.Gly1635Ser)
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.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>T (p.Tyr1668=)
NM_001846.4(COL4A2):c.5005G>A (p.Ala1669Thr) rs199959120
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.5086G>A (p.Gly1696Ser)
NM_001846.4(COL4A2):c.5103C>T (p.His1701=) rs772344537
NM_001846.4(COL4A2):c.5122_5138del (p.Cys1708fs) rs1280406576
NM_001846.4(COL4A2):c.5128A>C (p.Lys1710Gln)
NM_001846.4(COL4A2):c.537C>T (p.Arg179=)
NM_001846.4(COL4A2):c.546T>A (p.Tyr182Ter)
NM_001846.4(COL4A2):c.550-6C>T
NM_001846.4(COL4A2):c.55C>T (p.Leu19=)
NM_001846.4(COL4A2):c.567T>C (p.Pro189=)
NM_001846.4(COL4A2):c.571T>C (p.Leu191=)
NM_001846.4(COL4A2):c.573G>A (p.Leu191=)
NM_001846.4(COL4A2):c.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.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.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.6G>T (p.Gly2=)
NM_001846.4(COL4A2):c.726+4A>G rs2139462568
NM_001846.4(COL4A2):c.726G>A (p.Lys242=) rs1463099199
NM_001846.4(COL4A2):c.727-8A>G
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.825+14T>C
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.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.861+14T>C
NM_001846.4(COL4A2):c.861+17G>A
NM_001846.4(COL4A2):c.861+8G>T
NM_001846.4(COL4A2):c.862-15T>A
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.912+10G>A
NM_001846.4(COL4A2):c.912+18T>C
NM_001846.4(COL4A2):c.912+18T>G
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.940G>C (p.Gly314Arg)
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.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.988C>T (p.Pro330Ser)
NM_001846.4(COL4A2):c.99+19G>T

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