Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108692749_108692750delinsGACA2450720830COL4A5c.4530_4531delinsGA (p.Gly1510=)
c.4512_4513delinsGA (p.Gly1504=)
n.1024_1025delinsGA
c.325-3548_325-3547delinsGA
c.4521_4522delinsGA (p.Gly1507=)
c.4206_4207delinsGA (p.Gly1402=)
c.2103_2104delinsGA (p.Gly701=)
c.4545_4546delinsGA (p.Gly1515=)
c.4536_4537delinsGA (p.Gly1512=)
c.4527_4528delinsGA (p.Gly1509=)
c.2865_2866delinsGA (p.Gly955=)
Xg.108692750delCA259062COL4A5c.4531del (p.Thr1511ArgfsTer?)
c.4513del (p.Thr1505ArgfsTer?)
n.1025del
c.325-3547del
c.4522del (p.Thr1508ArgfsTer?)
c.4207del (p.Thr1403ArgfsTer?)
c.2104del (p.Thr702ArgfsTer?)
c.4546del (p.Thr1516ArgfsTer?)
c.4537del (p.Thr1513ArgfsTer?)
c.4528del (p.Thr1510ArgfsTer?)
c.2866del (p.Thr956ArgfsTer?)
 dbSNP
Xg.108692750A=CA2450720833COL4A5c.4531A= (p.Thr1511=)
c.4513A= (p.Thr1505=)
n.1025A=
c.325-3547A=
c.4522A= (p.Thr1508=)
c.4207A= (p.Thr1403=)
c.2104A= (p.Thr702=)
c.4546A= (p.Thr1516=)
c.4537A= (p.Thr1513=)
c.4528A= (p.Thr1510=)
c.2866A= (p.Thr956=)
Xg.108692750A>CCA413855208COL4A5c.4531A>C (p.Thr1511Pro)
c.4513A>C (p.Thr1505Pro)
n.1025A>C
c.325-3547A>C
c.4522A>C (p.Thr1508Pro)
c.4207A>C (p.Thr1403Pro)
c.2104A>C (p.Thr702Pro)
c.4546A>C (p.Thr1516Pro)
c.4537A>C (p.Thr1513Pro)
c.4528A>C (p.Thr1510Pro)
c.2866A>C (p.Thr956Pro)
Xg.108692750A>GCA413855204COL4A5c.4531A>G (p.Thr1511Ala)
c.4513A>G (p.Thr1505Ala)
n.1025A>G
c.325-3547A>G
c.4522A>G (p.Thr1508Ala)
c.4207A>G (p.Thr1403Ala)
c.2104A>G (p.Thr702Ala)
c.4546A>G (p.Thr1516Ala)
c.4537A>G (p.Thr1513Ala)
c.4528A>G (p.Thr1510Ala)
c.2866A>G (p.Thr956Ala)
 dbSNP gnomAD v4
Xg.108692750A>TCA413855207COL4A5c.4531A>T (p.Thr1511Ser)
c.4513A>T (p.Thr1505Ser)
n.1025A>T
c.325-3547A>T
c.4522A>T (p.Thr1508Ser)
c.4207A>T (p.Thr1403Ser)
c.2104A>T (p.Thr702Ser)
c.4546A>T (p.Thr1516Ser)
c.4537A>T (p.Thr1513Ser)
c.4528A>T (p.Thr1510Ser)
c.2866A>T (p.Thr956Ser)
Xg.108692750_108692764delinsACGGCTGGCAGCTGCCA2450720832COL4A5c.4531_4545delinsACGGCTGGCAGCTGC (p.Thr1511=)
c.4513_4527delinsACGGCTGGCAGCTGC (p.Thr1505=)
n.1025_1039delinsACGGCTGGCAGCTGC
c.325-3547_325-3533delinsACGGCTGGCAGCTGC
c.4522_4536delinsACGGCTGGCAGCTGC (p.Thr1508=)
c.4207_4221delinsACGGCTGGCAGCTGC (p.Thr1403=)
c.2104_2118delinsACGGCTGGCAGCTGC (p.Thr702=)
c.4546_4560delinsACGGCTGGCAGCTGC (p.Thr1516=)
c.4537_4551delinsACGGCTGGCAGCTGC (p.Thr1513=)
c.4528_4542delinsACGGCTGGCAGCTGC (p.Thr1510=)
c.2866_2880delinsACGGCTGGCAGCTGC (p.Thr956=)
Xg.108692751C>ACA413855210COL4A5c.4532C>A (p.Thr1511Lys)
c.4514C>A (p.Thr1505Lys)
n.1026C>A
c.325-3546C>A
c.4523C>A (p.Thr1508Lys)
c.4208C>A (p.Thr1403Lys)
c.2105C>A (p.Thr702Lys)
c.4547C>A (p.Thr1516Lys)
c.4538C>A (p.Thr1513Lys)
c.4529C>A (p.Thr1510Lys)
c.2867C>A (p.Thr956Lys)
 dbSNP gnomAD v4
Xg.108692751C=CA2450720834COL4A5c.4532C= (p.Thr1511=)
c.4514C= (p.Thr1505=)
n.1026C=
c.325-3546C=
c.4523C= (p.Thr1508=)
c.4208C= (p.Thr1403=)
c.2105C= (p.Thr702=)
c.4547C= (p.Thr1516=)
c.4538C= (p.Thr1513=)
c.4529C= (p.Thr1510=)
c.2867C= (p.Thr956=)
Xg.108692751C>GCA413855211COL4A5c.4532C>G (p.Thr1511Arg)
c.4514C>G (p.Thr1505Arg)
n.1026C>G
c.325-3546C>G
c.4523C>G (p.Thr1508Arg)
c.4208C>G (p.Thr1403Arg)
c.2105C>G (p.Thr702Arg)
c.4547C>G (p.Thr1516Arg)
c.4538C>G (p.Thr1513Arg)
c.4529C>G (p.Thr1510Arg)
c.2867C>G (p.Thr956Arg)
 dbSNP gnomAD v2 gnomAD v4
Xg.108692751C>TCA334061547COL4A5c.4532C>T (p.Thr1511Met)
c.4514C>T (p.Thr1505Met)
n.1026C>T
c.325-3546C>T
c.4523C>T (p.Thr1508Met)
c.4208C>T (p.Thr1403Met)
c.2105C>T (p.Thr702Met)
c.4547C>T (p.Thr1516Met)
c.4538C>T (p.Thr1513Met)
c.4529C>T (p.Thr1510Met)
c.2867C>T (p.Thr956Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108692751_108692764delinsTTTCATCA891843691COL4A5c.4532_4545delinsTTTCAT (p.Thr1511IlefsTer7)
c.4514_4527delinsTTTCAT (p.Thr1505IlefsTer7)
n.1026_1039delinsTTTCAT
c.325-3546_325-3533delinsTTTCAT
c.4523_4536delinsTTTCAT (p.Thr1508IlefsTer7)
c.4208_4221delinsTTTCAT (p.Thr1403IlefsTer7)
c.2105_2118delinsTTTCAT (p.Thr702IlefsTer7)
c.4547_4560delinsTTTCAT (p.Thr1516IlefsTer7)
c.4538_4551delinsTTTCAT (p.Thr1513IlefsTer7)
c.4529_4542delinsTTTCAT (p.Thr1510IlefsTer7)
c.2867_2880delinsTTTCAT (p.Thr956IlefsTer7)
Xg.108692752G>ACA10489381COL4A5c.4533G>A (p.Thr1511=)
c.4515G>A (p.Thr1505=)
n.1027G>A
c.325-3545G>A
c.4524G>A (p.Thr1508=)
c.4209G>A (p.Thr1403=)
c.2106G>A (p.Thr702=)
c.4548G>A (p.Thr1516=)
c.4539G>A (p.Thr1513=)
c.4530G>A (p.Thr1510=)
c.2868G>A (p.Thr956=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692752G>CCA517925025COL4A5c.4533G>C (p.Thr1511=)
c.4515G>C (p.Thr1505=)
n.1027G>C
c.325-3545G>C
c.4524G>C (p.Thr1508=)
c.4209G>C (p.Thr1403=)
c.2106G>C (p.Thr702=)
c.4548G>C (p.Thr1516=)
c.4539G>C (p.Thr1513=)
c.4530G>C (p.Thr1510=)
c.2868G>C (p.Thr956=)
Xg.108692752G=CA2450720835COL4A5c.4533G= (p.Thr1511=)
c.4515G= (p.Thr1505=)
n.1027G=
c.325-3545G=
c.4524G= (p.Thr1508=)
c.4209G= (p.Thr1403=)
c.2106G= (p.Thr702=)
c.4548G= (p.Thr1516=)
c.4539G= (p.Thr1513=)
c.4530G= (p.Thr1510=)
c.2868G= (p.Thr956=)
Xg.108692752G>TCA517925026COL4A5c.4533G>T (p.Thr1511=)
c.4515G>T (p.Thr1505=)
n.1027G>T
c.325-3545G>T
c.4524G>T (p.Thr1508=)
c.4209G>T (p.Thr1403=)
c.2106G>T (p.Thr702=)
c.4548G>T (p.Thr1516=)
c.4539G>T (p.Thr1513=)
c.4530G>T (p.Thr1510=)
c.2868G>T (p.Thr956=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
Xg.108692753G>ACA413855216COL4A5c.4534G>A (p.Ala1512Thr)
c.4516G>A (p.Ala1506Thr)
n.1028G>A
c.325-3544G>A
c.4525G>A (p.Ala1509Thr)
c.4210G>A (p.Ala1404Thr)
c.2107G>A (p.Ala703Thr)
c.4549G>A (p.Ala1517Thr)
c.4540G>A (p.Ala1514Thr)
c.4531G>A (p.Ala1511Thr)
c.2869G>A (p.Ala957Thr)
 COSMIC COSMIC
Xg.108692753G>CCA413855220COL4A5c.4534G>C (p.Ala1512Pro)
c.4516G>C (p.Ala1506Pro)
n.1028G>C
c.325-3544G>C
c.4525G>C (p.Ala1509Pro)
c.4210G>C (p.Ala1404Pro)
c.2107G>C (p.Ala703Pro)
c.4549G>C (p.Ala1517Pro)
c.4540G>C (p.Ala1514Pro)
c.4531G>C (p.Ala1511Pro)
c.2869G>C (p.Ala957Pro)
Xg.108692753G>TCA413855218COL4A5c.4534G>T (p.Ala1512Ser)
c.4516G>T (p.Ala1506Ser)
n.1028G>T
c.325-3544G>T
c.4525G>T (p.Ala1509Ser)
c.4210G>T (p.Ala1404Ser)
c.2107G>T (p.Ala703Ser)
c.4549G>T (p.Ala1517Ser)
c.4540G>T (p.Ala1514Ser)
c.4531G>T (p.Ala1511Ser)
c.2869G>T (p.Ala957Ser)
Xg.108692754C>ACA413855222COL4A5c.4535C>A (p.Ala1512Asp)
c.4517C>A (p.Ala1506Asp)
n.1029C>A
c.325-3543C>A
c.4526C>A (p.Ala1509Asp)
c.4211C>A (p.Ala1404Asp)
c.2108C>A (p.Ala703Asp)
c.4550C>A (p.Ala1517Asp)
c.4541C>A (p.Ala1514Asp)
c.4532C>A (p.Ala1511Asp)
c.2870C>A (p.Ala957Asp)
Xg.108692754C>GCA413855224COL4A5c.4535C>G (p.Ala1512Gly)
c.4517C>G (p.Ala1506Gly)
n.1029C>G
c.325-3543C>G
c.4526C>G (p.Ala1509Gly)
c.4211C>G (p.Ala1404Gly)
c.2108C>G (p.Ala703Gly)
c.4550C>G (p.Ala1517Gly)
c.4541C>G (p.Ala1514Gly)
c.4532C>G (p.Ala1511Gly)
c.2870C>G (p.Ala957Gly)
Xg.108692754C>TCA413855226COL4A5c.4535C>T (p.Ala1512Val)
c.4517C>T (p.Ala1506Val)
n.1029C>T
c.325-3543C>T
c.4526C>T (p.Ala1509Val)
c.4211C>T (p.Ala1404Val)
c.2108C>T (p.Ala703Val)
c.4550C>T (p.Ala1517Val)
c.4541C>T (p.Ala1514Val)
c.4532C>T (p.Ala1511Val)
c.2870C>T (p.Ala957Val)
Xg.108692755T>ACA517925031COL4A5c.4536T>A (p.Ala1512=)
c.4518T>A (p.Ala1506=)
n.1030T>A
c.325-3542T>A
c.4527T>A (p.Ala1509=)
c.4212T>A (p.Ala1404=)
c.2109T>A (p.Ala703=)
c.4551T>A (p.Ala1517=)
c.4542T>A (p.Ala1514=)
c.4533T>A (p.Ala1511=)
c.2871T>A (p.Ala957=)
Xg.108692755T>CCA517925029COL4A5c.4536T>C (p.Ala1512=)
c.4518T>C (p.Ala1506=)
n.1030T>C
c.325-3542T>C
c.4527T>C (p.Ala1509=)
c.4212T>C (p.Ala1404=)
c.2109T>C (p.Ala703=)
c.4551T>C (p.Ala1517=)
c.4542T>C (p.Ala1514=)
c.4533T>C (p.Ala1511=)
c.2871T>C (p.Ala957=)
Xg.108692755T>GCA517925030COL4A5c.4536T>G (p.Ala1512=)
c.4518T>G (p.Ala1506=)
n.1030T>G
c.325-3542T>G
c.4527T>G (p.Ala1509=)
c.4212T>G (p.Ala1404=)
c.2109T>G (p.Ala703=)
c.4551T>G (p.Ala1517=)
c.4542T>G (p.Ala1514=)
c.4533T>G (p.Ala1511=)
c.2871T>G (p.Ala957=)
Xg.108692756G>ACA413855229COL4A5c.4537G>A (p.Gly1513Ser)
c.4519G>A (p.Gly1507Ser)
n.1031G>A
c.325-3541G>A
c.4528G>A (p.Gly1510Ser)
c.4213G>A (p.Gly1405Ser)
c.2110G>A (p.Gly704Ser)
c.4552G>A (p.Gly1518Ser)
c.4543G>A (p.Gly1515Ser)
c.4534G>A (p.Gly1512Ser)
c.2872G>A (p.Gly958Ser)
Xg.108692756G>CCA413855230COL4A5c.4537G>C (p.Gly1513Arg)
c.4519G>C (p.Gly1507Arg)
n.1031G>C
c.325-3541G>C
c.4528G>C (p.Gly1510Arg)
c.4213G>C (p.Gly1405Arg)
c.2110G>C (p.Gly704Arg)
c.4552G>C (p.Gly1518Arg)
c.4543G>C (p.Gly1515Arg)
c.4534G>C (p.Gly1512Arg)
c.2872G>C (p.Gly958Arg)
Xg.108692756G>TCA413855232COL4A5c.4537G>T (p.Gly1513Cys)
c.4519G>T (p.Gly1507Cys)
n.1031G>T
c.325-3541G>T
c.4528G>T (p.Gly1510Cys)
c.4213G>T (p.Gly1405Cys)
c.2110G>T (p.Gly704Cys)
c.4552G>T (p.Gly1518Cys)
c.4543G>T (p.Gly1515Cys)
c.4534G>T (p.Gly1512Cys)
c.2872G>T (p.Gly958Cys)
Xg.108692757G>ACA413855235COL4A5c.4538G>A (p.Gly1513Asp)
c.4520G>A (p.Gly1507Asp)
n.1032G>A
c.325-3540G>A
c.4529G>A (p.Gly1510Asp)
c.4214G>A (p.Gly1405Asp)
c.2111G>A (p.Gly704Asp)
c.4553G>A (p.Gly1518Asp)
c.4544G>A (p.Gly1515Asp)
c.4535G>A (p.Gly1512Asp)
c.2873G>A (p.Gly958Asp)
Xg.108692757G>CCA413855236COL4A5c.4538G>C (p.Gly1513Ala)
c.4520G>C (p.Gly1507Ala)
n.1032G>C
c.325-3540G>C
c.4529G>C (p.Gly1510Ala)
c.4214G>C (p.Gly1405Ala)
c.2111G>C (p.Gly704Ala)
c.4553G>C (p.Gly1518Ala)
c.4544G>C (p.Gly1515Ala)
c.4535G>C (p.Gly1512Ala)
c.2873G>C (p.Gly958Ala)
Xg.108692757G>TCA413855238COL4A5c.4538G>T (p.Gly1513Val)
c.4520G>T (p.Gly1507Val)
n.1032G>T
c.325-3540G>T
c.4529G>T (p.Gly1510Val)
c.4214G>T (p.Gly1405Val)
c.2111G>T (p.Gly704Val)
c.4553G>T (p.Gly1518Val)
c.4544G>T (p.Gly1515Val)
c.4535G>T (p.Gly1512Val)
c.2873G>T (p.Gly958Val)
Xg.108692758C>ACA334061552COL4A5c.4539C>A (p.Gly1513=)
c.4521C>A (p.Gly1507=)
n.1033C>A
c.325-3539C>A
c.4530C>A (p.Gly1510=)
c.4215C>A (p.Gly1405=)
c.2112C>A (p.Gly704=)
c.4554C>A (p.Gly1518=)
c.4545C>A (p.Gly1515=)
c.4536C>A (p.Gly1512=)
c.2874C>A (p.Gly958=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692758C=CA2450720836COL4A5c.4539C= (p.Gly1513=)
c.4521C= (p.Gly1507=)
n.1033C=
c.325-3539C=
c.4530C= (p.Gly1510=)
c.4215C= (p.Gly1405=)
c.2112C= (p.Gly704=)
c.4554C= (p.Gly1518=)
c.4545C= (p.Gly1515=)
c.4536C= (p.Gly1512=)
c.2874C= (p.Gly958=)
Xg.108692758C>GCA517925041COL4A5c.4539C>G (p.Gly1513=)
c.4521C>G (p.Gly1507=)
n.1033C>G
c.325-3539C>G
c.4530C>G (p.Gly1510=)
c.4215C>G (p.Gly1405=)
c.2112C>G (p.Gly704=)
c.4554C>G (p.Gly1518=)
c.4545C>G (p.Gly1515=)
c.4536C>G (p.Gly1512=)
c.2874C>G (p.Gly958=)
Xg.108692758C>TCA517925042COL4A5c.4539C>T (p.Gly1513=)
c.4521C>T (p.Gly1507=)
n.1033C>T
c.325-3539C>T
c.4530C>T (p.Gly1510=)
c.4215C>T (p.Gly1405=)
c.2112C>T (p.Gly704=)
c.4554C>T (p.Gly1518=)
c.4545C>T (p.Gly1515=)
c.4536C>T (p.Gly1512=)
c.2874C>T (p.Gly958=)
Xg.108692759A>CCA413855240COL4A5c.4540A>C (p.Ser1514Arg)
c.4522A>C (p.Ser1508Arg)
n.1034A>C
c.325-3538A>C
c.4531A>C (p.Ser1511Arg)
c.4216A>C (p.Ser1406Arg)
c.2113A>C (p.Ser705Arg)
c.4555A>C (p.Ser1519Arg)
c.4546A>C (p.Ser1516Arg)
c.4537A>C (p.Ser1513Arg)
c.2875A>C (p.Ser959Arg)
Xg.108692759A>GCA413855241COL4A5c.4540A>G (p.Ser1514Gly)
c.4522A>G (p.Ser1508Gly)
n.1034A>G
c.325-3538A>G
c.4531A>G (p.Ser1511Gly)
c.4216A>G (p.Ser1406Gly)
c.2113A>G (p.Ser705Gly)
c.4555A>G (p.Ser1519Gly)
c.4546A>G (p.Ser1516Gly)
c.4537A>G (p.Ser1513Gly)
c.2875A>G (p.Ser959Gly)
Xg.108692759A>TCA413855243COL4A5c.4540A>T (p.Ser1514Cys)
c.4522A>T (p.Ser1508Cys)
n.1034A>T
c.325-3538A>T
c.4531A>T (p.Ser1511Cys)
c.4216A>T (p.Ser1406Cys)
c.2113A>T (p.Ser705Cys)
c.4555A>T (p.Ser1519Cys)
c.4546A>T (p.Ser1516Cys)
c.4537A>T (p.Ser1513Cys)
c.2875A>T (p.Ser959Cys)
Xg.108692760G>ACA413855245COL4A5c.4541G>A (p.Ser1514Asn)
c.4523G>A (p.Ser1508Asn)
n.1035G>A
c.325-3537G>A
c.4532G>A (p.Ser1511Asn)
c.4217G>A (p.Ser1406Asn)
c.2114G>A (p.Ser705Asn)
c.4556G>A (p.Ser1519Asn)
c.4547G>A (p.Ser1516Asn)
c.4538G>A (p.Ser1513Asn)
c.2876G>A (p.Ser959Asn)
 COSMIC COSMIC
Xg.108692760G>CCA413855249COL4A5c.4541G>C (p.Ser1514Thr)
c.4523G>C (p.Ser1508Thr)
n.1035G>C
c.325-3537G>C
c.4532G>C (p.Ser1511Thr)
c.4217G>C (p.Ser1406Thr)
c.2114G>C (p.Ser705Thr)
c.4556G>C (p.Ser1519Thr)
c.4547G>C (p.Ser1516Thr)
c.4538G>C (p.Ser1513Thr)
c.2876G>C (p.Ser959Thr)
Xg.108692760G>TCA413855247COL4A5c.4541G>T (p.Ser1514Ile)
c.4523G>T (p.Ser1508Ile)
n.1035G>T
c.325-3537G>T
c.4532G>T (p.Ser1511Ile)
c.4217G>T (p.Ser1406Ile)
c.2114G>T (p.Ser705Ile)
c.4556G>T (p.Ser1519Ile)
c.4547G>T (p.Ser1516Ile)
c.4538G>T (p.Ser1513Ile)
c.2876G>T (p.Ser959Ile)
 COSMIC COSMIC
Xg.108692761C>ACA413855251COL4A5c.4542C>A (p.Ser1514Arg)
c.4524C>A (p.Ser1508Arg)
n.1036C>A
c.325-3536C>A
c.4533C>A (p.Ser1511Arg)
c.4218C>A (p.Ser1406Arg)
c.2115C>A (p.Ser705Arg)
c.4557C>A (p.Ser1519Arg)
c.4548C>A (p.Ser1516Arg)
c.4539C>A (p.Ser1513Arg)
c.2877C>A (p.Ser959Arg)
Xg.108692761C>GCA413855253COL4A5c.4542C>G (p.Ser1514Arg)
c.4524C>G (p.Ser1508Arg)
n.1036C>G
c.325-3536C>G
c.4533C>G (p.Ser1511Arg)
c.4218C>G (p.Ser1406Arg)
c.2115C>G (p.Ser705Arg)
c.4557C>G (p.Ser1519Arg)
c.4548C>G (p.Ser1516Arg)
c.4539C>G (p.Ser1513Arg)
c.2877C>G (p.Ser959Arg)
Xg.108692761C>TCA517925059COL4A5c.4542C>T (p.Ser1514=)
c.4524C>T (p.Ser1508=)
n.1036C>T
c.325-3536C>T
c.4533C>T (p.Ser1511=)
c.4218C>T (p.Ser1406=)
c.2115C>T (p.Ser705=)
c.4557C>T (p.Ser1519=)
c.4548C>T (p.Ser1516=)
c.4539C>T (p.Ser1513=)
c.2877C>T (p.Ser959=)
Xg.108692762T>ACA413855255COL4A5c.4543T>A (p.Cys1515Ser)
c.4525T>A (p.Cys1509Ser)
n.1037T>A
c.325-3535T>A
c.4534T>A (p.Cys1512Ser)
c.4219T>A (p.Cys1407Ser)
c.2116T>A (p.Cys706Ser)
c.4558T>A (p.Cys1520Ser)
c.4549T>A (p.Cys1517Ser)
c.4540T>A (p.Cys1514Ser)
c.2878T>A (p.Cys960Ser)
Xg.108692762T>CCA413855259COL4A5c.4543T>C (p.Cys1515Arg)
c.4525T>C (p.Cys1509Arg)
n.1037T>C
c.325-3535T>C
c.4534T>C (p.Cys1512Arg)
c.4219T>C (p.Cys1407Arg)
c.2116T>C (p.Cys706Arg)
c.4558T>C (p.Cys1520Arg)
c.4549T>C (p.Cys1517Arg)
c.4540T>C (p.Cys1514Arg)
c.2878T>C (p.Cys960Arg)
Xg.108692762T>GCA413855257COL4A5c.4543T>G (p.Cys1515Gly)
c.4525T>G (p.Cys1509Gly)
n.1037T>G
c.325-3535T>G
c.4534T>G (p.Cys1512Gly)
c.4219T>G (p.Cys1407Gly)
c.2116T>G (p.Cys706Gly)
c.4558T>G (p.Cys1520Gly)
c.4549T>G (p.Cys1517Gly)
c.4540T>G (p.Cys1514Gly)
c.2878T>G (p.Cys960Gly)
Xg.108692762T=CA2450720837COL4A5c.4543T= (p.Cys1515=)
c.4525T= (p.Cys1509=)
n.1037T=
c.325-3535T=
c.4534T= (p.Cys1512=)
c.4219T= (p.Cys1407=)
c.2116T= (p.Cys706=)
c.4558T= (p.Cys1520=)
c.4549T= (p.Cys1517=)
c.4540T= (p.Cys1514=)
c.2878T= (p.Cys960=)
Xg.108692762_108692763insTTAGCA915951313COL4A5c.4543_4544insTTAG (p.Cys1515PhefsTer7)
c.4525_4526insTTAG (p.Cys1509PhefsTer7)
n.1037_1038insTTAG
c.325-3535_325-3534insTTAG
c.4534_4535insTTAG (p.Cys1512PhefsTer7)
c.4219_4220insTTAG (p.Cys1407PhefsTer7)
c.2116_2117insTTAG (p.Cys706PhefsTer7)
c.4558_4559insTTAG (p.Cys1520PhefsTer7)
c.4549_4550insTTAG (p.Cys1517PhefsTer7)
c.4540_4541insTTAG (p.Cys1514PhefsTer7)
c.2878_2879insTTAG (p.Cys960PhefsTer7)
 ClinVar dbSNP
Xg.108692763G>ACA413855261COL4A5c.4544G>A (p.Cys1515Tyr)
c.4526G>A (p.Cys1509Tyr)
n.1038G>A
c.325-3534G>A
c.4535G>A (p.Cys1512Tyr)
c.4220G>A (p.Cys1407Tyr)
c.2117G>A (p.Cys706Tyr)
c.4559G>A (p.Cys1520Tyr)
c.4550G>A (p.Cys1517Tyr)
c.4541G>A (p.Cys1514Tyr)
c.2879G>A (p.Cys960Tyr)
 ClinVar dbSNP
Xg.108692763G>CCA413855263COL4A5c.4544G>C (p.Cys1515Ser)
c.4526G>C (p.Cys1509Ser)
n.1038G>C
c.325-3534G>C
c.4535G>C (p.Cys1512Ser)
c.4220G>C (p.Cys1407Ser)
c.2117G>C (p.Cys706Ser)
c.4559G>C (p.Cys1520Ser)
c.4550G>C (p.Cys1517Ser)
c.4541G>C (p.Cys1514Ser)
c.2879G>C (p.Cys960Ser)
Xg.108692763G=CA2450720838COL4A5c.4544G= (p.Cys1515=)
c.4526G= (p.Cys1509=)
n.1038G=
c.325-3534G=
c.4535G= (p.Cys1512=)
c.4220G= (p.Cys1407=)
c.2117G= (p.Cys706=)
c.4559G= (p.Cys1520=)
c.4550G= (p.Cys1517=)
c.4541G= (p.Cys1514=)
c.2879G= (p.Cys960=)
Xg.108692763G>TCA413855265COL4A5c.4544G>T (p.Cys1515Phe)
c.4526G>T (p.Cys1509Phe)
n.1038G>T
c.325-3534G>T
c.4535G>T (p.Cys1512Phe)
c.4220G>T (p.Cys1407Phe)
c.2117G>T (p.Cys706Phe)
c.4559G>T (p.Cys1520Phe)
c.4550G>T (p.Cys1517Phe)
c.4541G>T (p.Cys1514Phe)
c.2879G>T (p.Cys960Phe)
Xg.108692763_108692764delinsTTAGTACA2695235242COL4A5c.4544_4545delinsTTAGTA (p.Cys1515PhefsTer7)
c.4526_4527delinsTTAGTA (p.Cys1509PhefsTer7)
n.1038_1039delinsTTAGTA
c.325-3534_325-3533delinsTTAGTA
c.4535_4536delinsTTAGTA (p.Cys1512PhefsTer7)
c.4220_4221delinsTTAGTA (p.Cys1407PhefsTer7)
c.2117_2118delinsTTAGTA (p.Cys706PhefsTer7)
c.4559_4560delinsTTAGTA (p.Cys1520PhefsTer7)
c.4550_4551delinsTTAGTA (p.Cys1517PhefsTer7)
c.4541_4542delinsTTAGTA (p.Cys1514PhefsTer7)
c.2879_2880delinsTTAGTA (p.Cys960PhefsTer7)
Xg.108692764C>ACA413855266COL4A5c.4545C>A (p.Cys1515Ter)
c.4527C>A (p.Cys1509Ter)
n.1039C>A
c.325-3533C>A
c.4536C>A (p.Cys1512Ter)
c.4221C>A (p.Cys1407Ter)
c.2118C>A (p.Cys706Ter)
c.4560C>A (p.Cys1520Ter)
c.4551C>A (p.Cys1517Ter)
c.4542C>A (p.Cys1514Ter)
c.2880C>A (p.Cys960Ter)
Xg.108692764C>GCA413855268COL4A5c.4545C>G (p.Cys1515Trp)
c.4527C>G (p.Cys1509Trp)
n.1039C>G
c.325-3533C>G
c.4536C>G (p.Cys1512Trp)
c.4221C>G (p.Cys1407Trp)
c.2118C>G (p.Cys706Trp)
c.4560C>G (p.Cys1520Trp)
c.4551C>G (p.Cys1517Trp)
c.4542C>G (p.Cys1514Trp)
c.2880C>G (p.Cys960Trp)
Xg.108692764C>TCA517925061COL4A5c.4545C>T (p.Cys1515=)
c.4527C>T (p.Cys1509=)
n.1039C>T
c.325-3533C>T
c.4536C>T (p.Cys1512=)
c.4221C>T (p.Cys1407=)
c.2118C>T (p.Cys706=)
c.4560C>T (p.Cys1520=)
c.4551C>T (p.Cys1517=)
c.4542C>T (p.Cys1514=)
c.2880C>T (p.Cys960=)
Xg.108692765C>ACA413855270COL4A5c.4546C>A (p.Leu1516Ile)
c.4528C>A (p.Leu1510Ile)
n.1040C>A
c.325-3532C>A
c.4537C>A (p.Leu1513Ile)
c.4222C>A (p.Leu1408Ile)
c.2119C>A (p.Leu707Ile)
c.4561C>A (p.Leu1521Ile)
c.4552C>A (p.Leu1518Ile)
c.4543C>A (p.Leu1515Ile)
c.2881C>A (p.Leu961Ile)
Xg.108692765C>GCA413855272COL4A5c.4546C>G (p.Leu1516Val)
c.4528C>G (p.Leu1510Val)
n.1040C>G
c.325-3532C>G
c.4537C>G (p.Leu1513Val)
c.4222C>G (p.Leu1408Val)
c.2119C>G (p.Leu707Val)
c.4561C>G (p.Leu1521Val)
c.4552C>G (p.Leu1518Val)
c.4543C>G (p.Leu1515Val)
c.2881C>G (p.Leu961Val)
Xg.108692765C>TCA413855274COL4A5c.4546C>T (p.Leu1516Phe)
c.4528C>T (p.Leu1510Phe)
n.1040C>T
c.325-3532C>T
c.4537C>T (p.Leu1513Phe)
c.4222C>T (p.Leu1408Phe)
c.2119C>T (p.Leu707Phe)
c.4561C>T (p.Leu1521Phe)
c.4552C>T (p.Leu1518Phe)
c.4543C>T (p.Leu1515Phe)
c.2881C>T (p.Leu961Phe)
Xg.108692766T>ACA413855276COL4A5c.4547T>A (p.Leu1516His)
c.4529T>A (p.Leu1510His)
n.1041T>A
c.325-3531T>A
c.4538T>A (p.Leu1513His)
c.4223T>A (p.Leu1408His)
c.2120T>A (p.Leu707His)
c.4562T>A (p.Leu1521His)
c.4553T>A (p.Leu1518His)
c.4544T>A (p.Leu1515His)
c.2882T>A (p.Leu961His)
Xg.108692766T>CCA413855278COL4A5c.4547T>C (p.Leu1516Pro)
c.4529T>C (p.Leu1510Pro)
n.1041T>C
c.325-3531T>C
c.4538T>C (p.Leu1513Pro)
c.4223T>C (p.Leu1408Pro)
c.2120T>C (p.Leu707Pro)
c.4562T>C (p.Leu1521Pro)
c.4553T>C (p.Leu1518Pro)
c.4544T>C (p.Leu1515Pro)
c.2882T>C (p.Leu961Pro)
 gnomAD v4
Xg.108692766T>GCA413855280COL4A5c.4547T>G (p.Leu1516Arg)
c.4529T>G (p.Leu1510Arg)
n.1041T>G
c.325-3531T>G
c.4538T>G (p.Leu1513Arg)
c.4223T>G (p.Leu1408Arg)
c.2120T>G (p.Leu707Arg)
c.4562T>G (p.Leu1521Arg)
c.4553T>G (p.Leu1518Arg)
c.4544T>G (p.Leu1515Arg)
c.2882T>G (p.Leu961Arg)
Xg.108692767T>ACA517925064COL4A5c.4548T>A (p.Leu1516=)
c.4530T>A (p.Leu1510=)
n.1042T>A
c.325-3530T>A
c.4539T>A (p.Leu1513=)
c.4224T>A (p.Leu1408=)
c.2121T>A (p.Leu707=)
c.4563T>A (p.Leu1521=)
c.4554T>A (p.Leu1518=)
c.4545T>A (p.Leu1515=)
c.2883T>A (p.Leu961=)
Xg.108692767T>CCA517925065COL4A5c.4548T>C (p.Leu1516=)
c.4530T>C (p.Leu1510=)
n.1042T>C
c.325-3530T>C
c.4539T>C (p.Leu1513=)
c.4224T>C (p.Leu1408=)
c.2121T>C (p.Leu707=)
c.4563T>C (p.Leu1521=)
c.4554T>C (p.Leu1518=)
c.4545T>C (p.Leu1515=)
c.2883T>C (p.Leu961=)
Xg.108692767T>GCA517925068COL4A5c.4548T>G (p.Leu1516=)
c.4530T>G (p.Leu1510=)
n.1042T>G
c.325-3530T>G
c.4539T>G (p.Leu1513=)
c.4224T>G (p.Leu1408=)
c.2121T>G (p.Leu707=)
c.4563T>G (p.Leu1521=)
c.4554T>G (p.Leu1518=)
c.4545T>G (p.Leu1515=)
c.2883T>G (p.Leu961=)
Xg.108692767_108692768delinsTCCA2450720839COL4A5c.4548_4549delinsTC (p.Leu1516=)
c.4530_4531delinsTC (p.Leu1510=)
n.1042_1043delinsTC
c.325-3530_325-3529delinsTC
c.4539_4540delinsTC (p.Leu1513=)
c.4224_4225delinsTC (p.Leu1408=)
c.2121_2122delinsTC (p.Leu707=)
c.4563_4564delinsTC (p.Leu1521=)
c.4554_4555delinsTC (p.Leu1518=)
c.4545_4546delinsTC (p.Leu1515=)
c.2883_2884delinsTC (p.Leu961=)
Xg.108692768delCA10581302COL4A5c.4549del (p.Arg1517ValfsTer?)
c.4531del (p.Arg1511ValfsTer?)
n.1043del
c.325-3529del
c.4540del (p.Arg1514ValfsTer?)
c.4225del (p.Arg1409ValfsTer?)
c.2122del (p.Arg708ValfsTer?)
c.4564del (p.Arg1522ValfsTer?)
c.4555del (p.Arg1519ValfsTer?)
c.4546del (p.Arg1516ValfsTer?)
c.2884del (p.Arg962ValfsTer?)
 ClinVar dbSNP
Xg.108692768C>ACA413855286COL4A5c.4549C>A (p.Arg1517Ser)
c.4531C>A (p.Arg1511Ser)
n.1043C>A
c.325-3529C>A
c.4540C>A (p.Arg1514Ser)
c.4225C>A (p.Arg1409Ser)
c.2122C>A (p.Arg708Ser)
c.4564C>A (p.Arg1522Ser)
c.4555C>A (p.Arg1519Ser)
c.4546C>A (p.Arg1516Ser)
c.2884C>A (p.Arg962Ser)
 dbSNP
Xg.108692768C=CA2450720840COL4A5c.4549C= (p.Arg1517=)
c.4531C= (p.Arg1511=)
n.1043C=
c.325-3529C=
c.4540C= (p.Arg1514=)
c.4225C= (p.Arg1409=)
c.2122C= (p.Arg708=)
c.4564C= (p.Arg1522=)
c.4555C= (p.Arg1519=)
c.4546C= (p.Arg1516=)
c.2884C= (p.Arg962=)
Xg.108692768C>GCA413855283COL4A5c.4549C>G (p.Arg1517Gly)
c.4531C>G (p.Arg1511Gly)
n.1043C>G
c.325-3529C>G
c.4540C>G (p.Arg1514Gly)
c.4225C>G (p.Arg1409Gly)
c.2122C>G (p.Arg708Gly)
c.4564C>G (p.Arg1522Gly)
c.4555C>G (p.Arg1519Gly)
c.4546C>G (p.Arg1516Gly)
c.2884C>G (p.Arg962Gly)
Xg.108692768C>TCA334061559COL4A5c.4549C>T (p.Arg1517Cys)
c.4531C>T (p.Arg1511Cys)
n.1043C>T
c.325-3529C>T
c.4540C>T (p.Arg1514Cys)
c.4225C>T (p.Arg1409Cys)
c.2122C>T (p.Arg708Cys)
c.4564C>T (p.Arg1522Cys)
c.4555C>T (p.Arg1519Cys)
c.4546C>T (p.Arg1516Cys)
c.2884C>T (p.Arg962Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108692769G>ACA259063COL4A5c.4550G>A (p.Arg1517His)
c.4532G>A (p.Arg1511His)
n.1044G>A
c.325-3528G>A
c.4541G>A (p.Arg1514His)
c.4226G>A (p.Arg1409His)
c.2123G>A (p.Arg708His)
c.4565G>A (p.Arg1522His)
c.4556G>A (p.Arg1519His)
c.4547G>A (p.Arg1516His)
c.2885G>A (p.Arg962His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692769G>CCA413855289COL4A5c.4550G>C (p.Arg1517Pro)
c.4532G>C (p.Arg1511Pro)
n.1044G>C
c.325-3528G>C
c.4541G>C (p.Arg1514Pro)
c.4226G>C (p.Arg1409Pro)
c.2123G>C (p.Arg708Pro)
c.4565G>C (p.Arg1522Pro)
c.4556G>C (p.Arg1519Pro)
c.4547G>C (p.Arg1516Pro)
c.2885G>C (p.Arg962Pro)
Xg.108692769G=CA2450720841COL4A5c.4550G= (p.Arg1517=)
c.4532G= (p.Arg1511=)
n.1044G=
c.325-3528G=
c.4541G= (p.Arg1514=)
c.4226G= (p.Arg1409=)
c.2123G= (p.Arg708=)
c.4565G= (p.Arg1522=)
c.4556G= (p.Arg1519=)
c.4547G= (p.Arg1516=)
c.2885G= (p.Arg962=)
Xg.108692769G>TCA413855291COL4A5c.4550G>T (p.Arg1517Leu)
c.4532G>T (p.Arg1511Leu)
n.1044G>T
c.325-3528G>T
c.4541G>T (p.Arg1514Leu)
c.4226G>T (p.Arg1409Leu)
c.2123G>T (p.Arg708Leu)
c.4565G>T (p.Arg1522Leu)
c.4556G>T (p.Arg1519Leu)
c.4547G>T (p.Arg1516Leu)
c.2885G>T (p.Arg962Leu)
Xg.108692770T>ACA517925082COL4A5c.4551T>A (p.Arg1517=)
c.4533T>A (p.Arg1511=)
n.1045T>A
c.325-3527T>A
c.4542T>A (p.Arg1514=)
c.4227T>A (p.Arg1409=)
c.2124T>A (p.Arg708=)
c.4566T>A (p.Arg1522=)
c.4557T>A (p.Arg1519=)
c.4548T>A (p.Arg1516=)
c.2886T>A (p.Arg962=)
Xg.108692770T>CCA517925078COL4A5c.4551T>C (p.Arg1517=)
c.4533T>C (p.Arg1511=)
n.1045T>C
c.325-3527T>C
c.4542T>C (p.Arg1514=)
c.4227T>C (p.Arg1409=)
c.2124T>C (p.Arg708=)
c.4566T>C (p.Arg1522=)
c.4557T>C (p.Arg1519=)
c.4548T>C (p.Arg1516=)
c.2886T>C (p.Arg962=)
Xg.108692770T>GCA517925080COL4A5c.4551T>G (p.Arg1517=)
c.4533T>G (p.Arg1511=)
n.1045T>G
c.325-3527T>G
c.4542T>G (p.Arg1514=)
c.4227T>G (p.Arg1409=)
c.2124T>G (p.Arg708=)
c.4566T>G (p.Arg1522=)
c.4557T>G (p.Arg1519=)
c.4548T>G (p.Arg1516=)
c.2886T>G (p.Arg962=)
Xg.108692771C>ACA413855293COL4A5c.4552C>A (p.Arg1518Ser)
c.4534C>A (p.Arg1512Ser)
n.1046C>A
c.325-3526C>A
c.4543C>A (p.Arg1515Ser)
c.4228C>A (p.Arg1410Ser)
c.2125C>A (p.Arg709Ser)
c.4567C>A (p.Arg1523Ser)
c.4558C>A (p.Arg1520Ser)
c.4549C>A (p.Arg1517Ser)
c.2887C>A (p.Arg963Ser)
Xg.108692771C=CA2450720842COL4A5c.4552C= (p.Arg1518=)
c.4534C= (p.Arg1512=)
n.1046C=
c.325-3526C=
c.4543C= (p.Arg1515=)
c.4228C= (p.Arg1410=)
c.2125C= (p.Arg709=)
c.4567C= (p.Arg1523=)
c.4558C= (p.Arg1520=)
c.4549C= (p.Arg1517=)
c.2887C= (p.Arg963=)
Xg.108692771C>GCA413855295COL4A5c.4552C>G (p.Arg1518Gly)
c.4534C>G (p.Arg1512Gly)
n.1046C>G
c.325-3526C>G
c.4543C>G (p.Arg1515Gly)
c.4228C>G (p.Arg1410Gly)
c.2125C>G (p.Arg709Gly)
c.4567C>G (p.Arg1523Gly)
c.4558C>G (p.Arg1520Gly)
c.4549C>G (p.Arg1517Gly)
c.2887C>G (p.Arg963Gly)
 dbSNP
Xg.108692771C>TCA334061562COL4A5c.4552C>T (p.Arg1518Cys)
c.4534C>T (p.Arg1512Cys)
n.1046C>T
c.325-3526C>T
c.4543C>T (p.Arg1515Cys)
c.4228C>T (p.Arg1410Cys)
c.2125C>T (p.Arg709Cys)
c.4567C>T (p.Arg1523Cys)
c.4558C>T (p.Arg1520Cys)
c.4549C>T (p.Arg1517Cys)
c.2887C>T (p.Arg963Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108692772G>ACA413855298COL4A5c.4553G>A (p.Arg1518His)
c.4535G>A (p.Arg1512His)
n.1047G>A
c.325-3525G>A
c.4544G>A (p.Arg1515His)
c.4229G>A (p.Arg1410His)
c.2126G>A (p.Arg709His)
c.4568G>A (p.Arg1523His)
c.4559G>A (p.Arg1520His)
c.4550G>A (p.Arg1517His)
c.2888G>A (p.Arg963His)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
Xg.108692772G>CCA413855300COL4A5c.4553G>C (p.Arg1518Pro)
c.4535G>C (p.Arg1512Pro)
n.1047G>C
c.325-3525G>C
c.4544G>C (p.Arg1515Pro)
c.4229G>C (p.Arg1410Pro)
c.2126G>C (p.Arg709Pro)
c.4568G>C (p.Arg1523Pro)
c.4559G>C (p.Arg1520Pro)
c.4550G>C (p.Arg1517Pro)
c.2888G>C (p.Arg963Pro)
Xg.108692772G=CA2450720843COL4A5c.4553G= (p.Arg1518=)
c.4535G= (p.Arg1512=)
n.1047G=
c.325-3525G=
c.4544G= (p.Arg1515=)
c.4229G= (p.Arg1410=)
c.2126G= (p.Arg709=)
c.4568G= (p.Arg1523=)
c.4559G= (p.Arg1520=)
c.4550G= (p.Arg1517=)
c.2888G= (p.Arg963=)
Xg.108692772G>TCA413855302COL4A5c.4553G>T (p.Arg1518Leu)
c.4535G>T (p.Arg1512Leu)
n.1047G>T
c.325-3525G>T
c.4544G>T (p.Arg1515Leu)
c.4229G>T (p.Arg1410Leu)
c.2126G>T (p.Arg709Leu)
c.4568G>T (p.Arg1523Leu)
c.4559G>T (p.Arg1520Leu)
c.4550G>T (p.Arg1517Leu)
c.2888G>T (p.Arg963Leu)
Xg.108692773C>ACA517925087COL4A5c.4554C>A (p.Arg1518=)
c.4536C>A (p.Arg1512=)
n.1048C>A
c.325-3524C>A
c.4545C>A (p.Arg1515=)
c.4230C>A (p.Arg1410=)
c.2127C>A (p.Arg709=)
c.4569C>A (p.Arg1523=)
c.4560C>A (p.Arg1520=)
c.4551C>A (p.Arg1517=)
c.2889C>A (p.Arg963=)
Xg.108692773C>GCA517925088COL4A5c.4554C>G (p.Arg1518=)
c.4536C>G (p.Arg1512=)
n.1048C>G
c.325-3524C>G
c.4545C>G (p.Arg1515=)
c.4230C>G (p.Arg1410=)
c.2127C>G (p.Arg709=)
c.4569C>G (p.Arg1523=)
c.4560C>G (p.Arg1520=)
c.4551C>G (p.Arg1517=)
c.2889C>G (p.Arg963=)
Xg.108692773C>TCA517925090COL4A5c.4554C>T (p.Arg1518=)
c.4536C>T (p.Arg1512=)
n.1048C>T
c.325-3524C>T
c.4545C>T (p.Arg1515=)
c.4230C>T (p.Arg1410=)
c.2127C>T (p.Arg709=)
c.4569C>T (p.Arg1523=)
c.4560C>T (p.Arg1520=)
c.4551C>T (p.Arg1517=)
c.2889C>T (p.Arg963=)
Xg.108692774T>ACA413855305COL4A5c.4555T>A (p.Phe1519Ile)
c.4537T>A (p.Phe1513Ile)
n.1049T>A
c.325-3523T>A
c.4546T>A (p.Phe1516Ile)
c.4231T>A (p.Phe1411Ile)
c.2128T>A (p.Phe710Ile)
c.4570T>A (p.Phe1524Ile)
c.4561T>A (p.Phe1521Ile)
c.4552T>A (p.Phe1518Ile)
c.2890T>A (p.Phe964Ile)
Xg.108692774T>CCA413855306COL4A5c.4555T>C (p.Phe1519Leu)
c.4537T>C (p.Phe1513Leu)
n.1049T>C
c.325-3523T>C
c.4546T>C (p.Phe1516Leu)
c.4231T>C (p.Phe1411Leu)
c.2128T>C (p.Phe710Leu)
c.4570T>C (p.Phe1524Leu)
c.4561T>C (p.Phe1521Leu)
c.4552T>C (p.Phe1518Leu)
c.2890T>C (p.Phe964Leu)
Xg.108692774T>GCA413855304COL4A5c.4555T>G (p.Phe1519Val)
c.4537T>G (p.Phe1513Val)
n.1049T>G
c.325-3523T>G
c.4546T>G (p.Phe1516Val)
c.4231T>G (p.Phe1411Val)
c.2128T>G (p.Phe710Val)
c.4570T>G (p.Phe1524Val)
c.4561T>G (p.Phe1521Val)
c.4552T>G (p.Phe1518Val)
c.2890T>G (p.Phe964Val)
Xg.108692775T>ACA413855309COL4A5c.4556T>A (p.Phe1519Tyr)
c.4538T>A (p.Phe1513Tyr)
n.1050T>A
c.325-3522T>A
c.4547T>A (p.Phe1516Tyr)
c.4232T>A (p.Phe1411Tyr)
c.2129T>A (p.Phe710Tyr)
c.4571T>A (p.Phe1524Tyr)
c.4562T>A (p.Phe1521Tyr)
c.4553T>A (p.Phe1518Tyr)
c.2891T>A (p.Phe964Tyr)
Xg.108692775T>CCA413855310COL4A5c.4556T>C (p.Phe1519Ser)
c.4538T>C (p.Phe1513Ser)
n.1050T>C
c.325-3522T>C
c.4547T>C (p.Phe1516Ser)
c.4232T>C (p.Phe1411Ser)
c.2129T>C (p.Phe710Ser)
c.4571T>C (p.Phe1524Ser)
c.4562T>C (p.Phe1521Ser)
c.4553T>C (p.Phe1518Ser)
c.2891T>C (p.Phe964Ser)
Xg.108692775T>GCA413855312COL4A5c.4556T>G (p.Phe1519Cys)
c.4538T>G (p.Phe1513Cys)
n.1050T>G
c.325-3522T>G
c.4547T>G (p.Phe1516Cys)
c.4232T>G (p.Phe1411Cys)
c.2129T>G (p.Phe710Cys)
c.4571T>G (p.Phe1524Cys)
c.4562T>G (p.Phe1521Cys)
c.4553T>G (p.Phe1518Cys)
c.2891T>G (p.Phe964Cys)
Xg.108692776T>ACA413855314COL4A5c.4557T>A (p.Phe1519Leu)
c.4539T>A (p.Phe1513Leu)
n.1051T>A
c.325-3521T>A
c.4548T>A (p.Phe1516Leu)
c.4233T>A (p.Phe1411Leu)
c.2130T>A (p.Phe710Leu)
c.4572T>A (p.Phe1524Leu)
c.4563T>A (p.Phe1521Leu)
c.4554T>A (p.Phe1518Leu)
c.2892T>A (p.Phe964Leu)
Xg.108692776T>CCA517925097COL4A5c.4557T>C (p.Phe1519=)
c.4539T>C (p.Phe1513=)
n.1051T>C
c.325-3521T>C
c.4548T>C (p.Phe1516=)
c.4233T>C (p.Phe1411=)
c.2130T>C (p.Phe710=)
c.4572T>C (p.Phe1524=)
c.4563T>C (p.Phe1521=)
c.4554T>C (p.Phe1518=)
c.2892T>C (p.Phe964=)
Xg.108692776T>GCA413855316COL4A5c.4557T>G (p.Phe1519Leu)
c.4539T>G (p.Phe1513Leu)
n.1051T>G
c.325-3521T>G
c.4548T>G (p.Phe1516Leu)
c.4233T>G (p.Phe1411Leu)
c.2130T>G (p.Phe710Leu)
c.4572T>G (p.Phe1524Leu)
c.4563T>G (p.Phe1521Leu)
c.4554T>G (p.Phe1518Leu)
c.2892T>G (p.Phe964Leu)
Xg.108692777A=CA2450720844COL4A5c.4558A= (p.Ser1520=)
c.4540A= (p.Ser1514=)
n.1052A=
c.325-3520A=
c.4549A= (p.Ser1517=)
c.4234A= (p.Ser1412=)
c.2131A= (p.Ser711=)
c.4573A= (p.Ser1525=)
c.4564A= (p.Ser1522=)
c.4555A= (p.Ser1519=)
c.2893A= (p.Ser965=)
Xg.108692777A>CCA413855318COL4A5c.4558A>C (p.Ser1520Arg)
c.4540A>C (p.Ser1514Arg)
n.1052A>C
c.325-3520A>C
c.4549A>C (p.Ser1517Arg)
c.4234A>C (p.Ser1412Arg)
c.2131A>C (p.Ser711Arg)
c.4573A>C (p.Ser1525Arg)
c.4564A>C (p.Ser1522Arg)
c.4555A>C (p.Ser1519Arg)
c.2893A>C (p.Ser965Arg)
Xg.108692777A>GCA10489382COL4A5c.4558A>G (p.Ser1520Gly)
c.4540A>G (p.Ser1514Gly)
n.1052A>G
c.325-3520A>G
c.4549A>G (p.Ser1517Gly)
c.4234A>G (p.Ser1412Gly)
c.2131A>G (p.Ser711Gly)
c.4573A>G (p.Ser1525Gly)
c.4564A>G (p.Ser1522Gly)
c.4555A>G (p.Ser1519Gly)
c.2893A>G (p.Ser965Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108692777A>TCA413855321COL4A5c.4558A>T (p.Ser1520Cys)
c.4540A>T (p.Ser1514Cys)
n.1052A>T
c.325-3520A>T
c.4549A>T (p.Ser1517Cys)
c.4234A>T (p.Ser1412Cys)
c.2131A>T (p.Ser711Cys)
c.4573A>T (p.Ser1525Cys)
c.4564A>T (p.Ser1522Cys)
c.4555A>T (p.Ser1519Cys)
c.2893A>T (p.Ser965Cys)
Xg.108692778G>ACA413855323COL4A5c.4559G>A (p.Ser1520Asn)
c.4541G>A (p.Ser1514Asn)
n.1053G>A
c.325-3519G>A
c.4550G>A (p.Ser1517Asn)
c.4235G>A (p.Ser1412Asn)
c.2132G>A (p.Ser711Asn)
c.4574G>A (p.Ser1525Asn)
c.4565G>A (p.Ser1522Asn)
c.4556G>A (p.Ser1519Asn)
c.2894G>A (p.Ser965Asn)
 gnomAD v4
Xg.108692778G>CCA413855325COL4A5c.4559G>C (p.Ser1520Thr)
c.4541G>C (p.Ser1514Thr)
n.1053G>C
c.325-3519G>C
c.4550G>C (p.Ser1517Thr)
c.4235G>C (p.Ser1412Thr)
c.2132G>C (p.Ser711Thr)
c.4574G>C (p.Ser1525Thr)
c.4565G>C (p.Ser1522Thr)
c.4556G>C (p.Ser1519Thr)
c.2894G>C (p.Ser965Thr)
Xg.108692778G>TCA413855327COL4A5c.4559G>T (p.Ser1520Ile)
c.4541G>T (p.Ser1514Ile)
n.1053G>T
c.325-3519G>T
c.4550G>T (p.Ser1517Ile)
c.4235G>T (p.Ser1412Ile)
c.2132G>T (p.Ser711Ile)
c.4574G>T (p.Ser1525Ile)
c.4565G>T (p.Ser1522Ile)
c.4556G>T (p.Ser1519Ile)
c.2894G>T (p.Ser965Ile)
 gnomAD v4
Xg.108692779T>ACA413855329COL4A5c.4560T>A (p.Ser1520Arg)
c.4542T>A (p.Ser1514Arg)
n.1054T>A
c.325-3518T>A
c.4551T>A (p.Ser1517Arg)
c.4236T>A (p.Ser1412Arg)
c.2133T>A (p.Ser711Arg)
c.4575T>A (p.Ser1525Arg)
c.4566T>A (p.Ser1522Arg)
c.4557T>A (p.Ser1519Arg)
c.2895T>A (p.Ser965Arg)
Xg.108692779T>CCA517925108COL4A5c.4560T>C (p.Ser1520=)
c.4542T>C (p.Ser1514=)
n.1054T>C
c.325-3518T>C
c.4551T>C (p.Ser1517=)
c.4236T>C (p.Ser1412=)
c.2133T>C (p.Ser711=)
c.4575T>C (p.Ser1525=)
c.4566T>C (p.Ser1522=)
c.4557T>C (p.Ser1519=)
c.2895T>C (p.Ser965=)
Xg.108692779T>GCA413855331COL4A5c.4560T>G (p.Ser1520Arg)
c.4542T>G (p.Ser1514Arg)
n.1054T>G
c.325-3518T>G
c.4551T>G (p.Ser1517Arg)
c.4236T>G (p.Ser1412Arg)
c.2133T>G (p.Ser711Arg)
c.4575T>G (p.Ser1525Arg)
c.4566T>G (p.Ser1522Arg)
c.4557T>G (p.Ser1519Arg)
c.2895T>G (p.Ser965Arg)
Xg.108692780A=CA2450720845COL4A5c.4561A= (p.Thr1521=)
c.4543A= (p.Thr1515=)
n.1055A=
c.325-3517A=
c.4552A= (p.Thr1518=)
c.4237A= (p.Thr1413=)
c.2134A= (p.Thr712=)
c.4576A= (p.Thr1526=)
c.4567A= (p.Thr1523=)
c.4558A= (p.Thr1520=)
c.2896A= (p.Thr966=)
Xg.108692780A>CCA413855336COL4A5c.4561A>C (p.Thr1521Pro)
c.4543A>C (p.Thr1515Pro)
n.1055A>C
c.325-3517A>C
c.4552A>C (p.Thr1518Pro)
c.4237A>C (p.Thr1413Pro)
c.2134A>C (p.Thr712Pro)
c.4576A>C (p.Thr1526Pro)
c.4567A>C (p.Thr1523Pro)
c.4558A>C (p.Thr1520Pro)
c.2896A>C (p.Thr966Pro)
Xg.108692780A>GCA334061571COL4A5c.4561A>G (p.Thr1521Ala)
c.4543A>G (p.Thr1515Ala)
n.1055A>G
c.325-3517A>G
c.4552A>G (p.Thr1518Ala)
c.4237A>G (p.Thr1413Ala)
c.2134A>G (p.Thr712Ala)
c.4576A>G (p.Thr1526Ala)
c.4567A>G (p.Thr1523Ala)
c.4558A>G (p.Thr1520Ala)
c.2896A>G (p.Thr966Ala)
 dbSNP
Xg.108692780A>TCA413855333COL4A5c.4561A>T (p.Thr1521Ser)
c.4543A>T (p.Thr1515Ser)
n.1055A>T
c.325-3517A>T
c.4552A>T (p.Thr1518Ser)
c.4237A>T (p.Thr1413Ser)
c.2134A>T (p.Thr712Ser)
c.4576A>T (p.Thr1526Ser)
c.4567A>T (p.Thr1523Ser)
c.4558A>T (p.Thr1520Ser)
c.2896A>T (p.Thr966Ser)
Xg.108692781C>ACA413855338COL4A5c.4562C>A (p.Thr1521Asn)
c.4544C>A (p.Thr1515Asn)
n.1056C>A
c.325-3516C>A
c.4553C>A (p.Thr1518Asn)
c.4238C>A (p.Thr1413Asn)
c.2135C>A (p.Thr712Asn)
c.4577C>A (p.Thr1526Asn)
c.4568C>A (p.Thr1523Asn)
c.4559C>A (p.Thr1520Asn)
c.2897C>A (p.Thr966Asn)
Xg.108692781C>GCA413855340COL4A5c.4562C>G (p.Thr1521Ser)
c.4544C>G (p.Thr1515Ser)
n.1056C>G
c.325-3516C>G
c.4553C>G (p.Thr1518Ser)
c.4238C>G (p.Thr1413Ser)
c.2135C>G (p.Thr712Ser)
c.4577C>G (p.Thr1526Ser)
c.4568C>G (p.Thr1523Ser)
c.4559C>G (p.Thr1520Ser)
c.2897C>G (p.Thr966Ser)
Xg.108692781C>TCA413855342COL4A5c.4562C>T (p.Thr1521Ile)
c.4544C>T (p.Thr1515Ile)
n.1056C>T
c.325-3516C>T
c.4553C>T (p.Thr1518Ile)
c.4238C>T (p.Thr1413Ile)
c.2135C>T (p.Thr712Ile)
c.4577C>T (p.Thr1526Ile)
c.4568C>T (p.Thr1523Ile)
c.4559C>T (p.Thr1520Ile)
c.2897C>T (p.Thr966Ile)
 COSMIC COSMIC
Xg.108692782C>ACA517925111COL4A5c.4563C>A (p.Thr1521=)
c.4545C>A (p.Thr1515=)
n.1057C>A
c.325-3515C>A
c.4554C>A (p.Thr1518=)
c.4239C>A (p.Thr1413=)
c.2136C>A (p.Thr712=)
c.4578C>A (p.Thr1526=)
c.4569C>A (p.Thr1523=)
c.4560C>A (p.Thr1520=)
c.2898C>A (p.Thr966=)
Xg.108692782C>GCA517925113COL4A5c.4563C>G (p.Thr1521=)
c.4545C>G (p.Thr1515=)
n.1057C>G
c.325-3515C>G
c.4554C>G (p.Thr1518=)
c.4239C>G (p.Thr1413=)
c.2136C>G (p.Thr712=)
c.4578C>G (p.Thr1526=)
c.4569C>G (p.Thr1523=)
c.4560C>G (p.Thr1520=)
c.2898C>G (p.Thr966=)
Xg.108692782C>TCA517925114COL4A5c.4563C>T (p.Thr1521=)
c.4545C>T (p.Thr1515=)
n.1057C>T
c.325-3515C>T
c.4554C>T (p.Thr1518=)
c.4239C>T (p.Thr1413=)
c.2136C>T (p.Thr712=)
c.4578C>T (p.Thr1526=)
c.4569C>T (p.Thr1523=)
c.4560C>T (p.Thr1520=)
c.2898C>T (p.Thr966=)
Xg.108692783A>CCA413855344COL4A5c.4564A>C (p.Met1522Leu)
c.4546A>C (p.Met1516Leu)
n.1058A>C
c.325-3514A>C
c.4555A>C (p.Met1519Leu)
c.4240A>C (p.Met1414Leu)
c.2137A>C (p.Met713Leu)
c.4579A>C (p.Met1527Leu)
c.4570A>C (p.Met1524Leu)
c.4561A>C (p.Met1521Leu)
c.2899A>C (p.Met967Leu)
Xg.108692783A>GCA413855345COL4A5c.4564A>G (p.Met1522Val)
c.4546A>G (p.Met1516Val)
n.1058A>G
c.325-3514A>G
c.4555A>G (p.Met1519Val)
c.4240A>G (p.Met1414Val)
c.2137A>G (p.Met713Val)
c.4579A>G (p.Met1527Val)
c.4570A>G (p.Met1524Val)
c.4561A>G (p.Met1521Val)
c.2899A>G (p.Met967Val)
Xg.108692783A>TCA413855347COL4A5c.4564A>T (p.Met1522Leu)
c.4546A>T (p.Met1516Leu)
n.1058A>T
c.325-3514A>T
c.4555A>T (p.Met1519Leu)
c.4240A>T (p.Met1414Leu)
c.2137A>T (p.Met713Leu)
c.4579A>T (p.Met1527Leu)
c.4570A>T (p.Met1524Leu)
c.4561A>T (p.Met1521Leu)
c.2899A>T (p.Met967Leu)
Xg.108692784T>ACA413855349COL4A5c.4565T>A (p.Met1522Lys)
c.4547T>A (p.Met1516Lys)
n.1059T>A
c.325-3513T>A
c.4556T>A (p.Met1519Lys)
c.4241T>A (p.Met1414Lys)
c.2138T>A (p.Met713Lys)
c.4580T>A (p.Met1527Lys)
c.4571T>A (p.Met1524Lys)
c.4562T>A (p.Met1521Lys)
c.2900T>A (p.Met967Lys)
Xg.108692784T>CCA413855351COL4A5c.4565T>C (p.Met1522Thr)
c.4547T>C (p.Met1516Thr)
n.1059T>C
c.325-3513T>C
c.4556T>C (p.Met1519Thr)
c.4241T>C (p.Met1414Thr)
c.2138T>C (p.Met713Thr)
c.4580T>C (p.Met1527Thr)
c.4571T>C (p.Met1524Thr)
c.4562T>C (p.Met1521Thr)
c.2900T>C (p.Met967Thr)
Xg.108692784T>GCA413855352COL4A5c.4565T>G (p.Met1522Arg)
c.4547T>G (p.Met1516Arg)
n.1059T>G
c.325-3513T>G
c.4556T>G (p.Met1519Arg)
c.4241T>G (p.Met1414Arg)
c.2138T>G (p.Met713Arg)
c.4580T>G (p.Met1527Arg)
c.4571T>G (p.Met1524Arg)
c.4562T>G (p.Met1521Arg)
c.2900T>G (p.Met967Arg)
Xg.108692784dupCA2695235243COL4A5c.4565dup (p.Met1522IlefsTer10)
c.4547dup (p.Met1516IlefsTer10)
n.1059dup
c.325-3513dup
c.4556dup (p.Met1519IlefsTer10)
c.4241dup (p.Met1414IlefsTer10)
c.2138dup (p.Met713IlefsTer10)
c.4580dup (p.Met1527IlefsTer10)
c.4571dup (p.Met1524IlefsTer10)
c.4562dup (p.Met1521IlefsTer10)
c.2900dup (p.Met967IlefsTer10)
Xg.108692785G>ACA413855354COL4A5c.4566G>A (p.Met1522Ile)
c.4548G>A (p.Met1516Ile)
n.1060G>A
c.325-3512G>A
c.4557G>A (p.Met1519Ile)
c.4242G>A (p.Met1414Ile)
c.2139G>A (p.Met713Ile)
c.4581G>A (p.Met1527Ile)
c.4572G>A (p.Met1524Ile)
c.4563G>A (p.Met1521Ile)
c.2901G>A (p.Met967Ile)
Xg.108692785G>CCA413855356COL4A5c.4566G>C (p.Met1522Ile)
c.4548G>C (p.Met1516Ile)
n.1060G>C
c.325-3512G>C
c.4557G>C (p.Met1519Ile)
c.4242G>C (p.Met1414Ile)
c.2139G>C (p.Met713Ile)
c.4581G>C (p.Met1527Ile)
c.4572G>C (p.Met1524Ile)
c.4563G>C (p.Met1521Ile)
c.2901G>C (p.Met967Ile)
 COSMIC
Xg.108692785G>TCA413855358COL4A5c.4566G>T (p.Met1522Ile)
c.4548G>T (p.Met1516Ile)
n.1060G>T
c.325-3512G>T
c.4557G>T (p.Met1519Ile)
c.4242G>T (p.Met1414Ile)
c.2139G>T (p.Met713Ile)
c.4581G>T (p.Met1527Ile)
c.4572G>T (p.Met1524Ile)
c.4563G>T (p.Met1521Ile)
c.2901G>T (p.Met967Ile)
Xg.108692786C>ACA259065COL4A5c.4567C>A (p.Pro1523Thr)
c.4549C>A (p.Pro1517Thr)
n.1061C>A
c.325-3511C>A
c.4558C>A (p.Pro1520Thr)
c.4243C>A (p.Pro1415Thr)
c.2140C>A (p.Pro714Thr)
c.4582C>A (p.Pro1528Thr)
c.4573C>A (p.Pro1525Thr)
c.4564C>A (p.Pro1522Thr)
c.2902C>A (p.Pro968Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692786C=CA2450720846COL4A5c.4567C= (p.Pro1523=)
c.4549C= (p.Pro1517=)
n.1061C=
c.325-3511C=
c.4558C= (p.Pro1520=)
c.4243C= (p.Pro1415=)
c.2140C= (p.Pro714=)
c.4582C= (p.Pro1528=)
c.4573C= (p.Pro1525=)
c.4564C= (p.Pro1522=)
c.2902C= (p.Pro968=)
Xg.108692786C>GCA413855362COL4A5c.4567C>G (p.Pro1523Ala)
c.4549C>G (p.Pro1517Ala)
n.1061C>G
c.325-3511C>G
c.4558C>G (p.Pro1520Ala)
c.4243C>G (p.Pro1415Ala)
c.2140C>G (p.Pro714Ala)
c.4582C>G (p.Pro1528Ala)
c.4573C>G (p.Pro1525Ala)
c.4564C>G (p.Pro1522Ala)
c.2902C>G (p.Pro968Ala)
 dbSNP
Xg.108692786C>TCA413855360COL4A5c.4567C>T (p.Pro1523Ser)
c.4549C>T (p.Pro1517Ser)
n.1061C>T
c.325-3511C>T
c.4558C>T (p.Pro1520Ser)
c.4243C>T (p.Pro1415Ser)
c.2140C>T (p.Pro714Ser)
c.4582C>T (p.Pro1528Ser)
c.4573C>T (p.Pro1525Ser)
c.4564C>T (p.Pro1522Ser)
c.2902C>T (p.Pro968Ser)
Xg.108692787C>ACA413855365COL4A5c.4568C>A (p.Pro1523His)
c.4550C>A (p.Pro1517His)
n.1062C>A
c.325-3510C>A
c.4559C>A (p.Pro1520His)
c.4244C>A (p.Pro1415His)
c.2141C>A (p.Pro714His)
c.4583C>A (p.Pro1528His)
c.4574C>A (p.Pro1525His)
c.4565C>A (p.Pro1522His)
c.2903C>A (p.Pro968His)
Xg.108692787C=CA2450720847COL4A5c.4568C= (p.Pro1523=)
c.4550C= (p.Pro1517=)
n.1062C=
c.325-3510C=
c.4559C= (p.Pro1520=)
c.4244C= (p.Pro1415=)
c.2141C= (p.Pro714=)
c.4583C= (p.Pro1528=)
c.4574C= (p.Pro1525=)
c.4565C= (p.Pro1522=)
c.2903C= (p.Pro968=)
Xg.108692787C>GCA413855368COL4A5c.4568C>G (p.Pro1523Arg)
c.4550C>G (p.Pro1517Arg)
n.1062C>G
c.325-3510C>G
c.4559C>G (p.Pro1520Arg)
c.4244C>G (p.Pro1415Arg)
c.2141C>G (p.Pro714Arg)
c.4583C>G (p.Pro1528Arg)
c.4574C>G (p.Pro1525Arg)
c.4565C>G (p.Pro1522Arg)
c.2903C>G (p.Pro968Arg)
 ClinVar dbSNP gnomAD v4
Xg.108692787C>TCA413855367COL4A5c.4568C>T (p.Pro1523Leu)
c.4550C>T (p.Pro1517Leu)
n.1062C>T
c.325-3510C>T
c.4559C>T (p.Pro1520Leu)
c.4244C>T (p.Pro1415Leu)
c.2141C>T (p.Pro714Leu)
c.4583C>T (p.Pro1528Leu)
c.4574C>T (p.Pro1525Leu)
c.4565C>T (p.Pro1522Leu)
c.2903C>T (p.Pro968Leu)
 gnomAD v4
Xg.108692788T>ACA517925125COL4A5c.4569T>A (p.Pro1523=)
c.4551T>A (p.Pro1517=)
n.1063T>A
c.325-3509T>A
c.4560T>A (p.Pro1520=)
c.4245T>A (p.Pro1415=)
c.2142T>A (p.Pro714=)
c.4584T>A (p.Pro1528=)
c.4575T>A (p.Pro1525=)
c.4566T>A (p.Pro1522=)
c.2904T>A (p.Pro968=)
 gnomAD v4 COSMIC COSMIC
Xg.108692788T>CCA517925128COL4A5c.4569T>C (p.Pro1523=)
c.4551T>C (p.Pro1517=)
n.1063T>C
c.325-3509T>C
c.4560T>C (p.Pro1520=)
c.4245T>C (p.Pro1415=)
c.2142T>C (p.Pro714=)
c.4584T>C (p.Pro1528=)
c.4575T>C (p.Pro1525=)
c.4566T>C (p.Pro1522=)
c.2904T>C (p.Pro968=)
 gnomAD v4
Xg.108692788T>GCA517925129COL4A5c.4569T>G (p.Pro1523=)
c.4551T>G (p.Pro1517=)
n.1063T>G
c.325-3509T>G
c.4560T>G (p.Pro1520=)
c.4245T>G (p.Pro1415=)
c.2142T>G (p.Pro714=)
c.4584T>G (p.Pro1528=)
c.4575T>G (p.Pro1525=)
c.4566T>G (p.Pro1522=)
c.2904T>G (p.Pro968=)
Xg.108692789T>ACA413855372COL4A5c.4570T>A (p.Phe1524Ile)
c.4552T>A (p.Phe1518Ile)
n.1064T>A
c.325-3508T>A
c.4561T>A (p.Phe1521Ile)
c.4246T>A (p.Phe1416Ile)
c.2143T>A (p.Phe715Ile)
c.4585T>A (p.Phe1529Ile)
c.4576T>A (p.Phe1526Ile)
c.4567T>A (p.Phe1523Ile)
c.2905T>A (p.Phe969Ile)
Xg.108692789T>CCA413855373COL4A5c.4570T>C (p.Phe1524Leu)
c.4552T>C (p.Phe1518Leu)
n.1064T>C
c.325-3508T>C
c.4561T>C (p.Phe1521Leu)
c.4246T>C (p.Phe1416Leu)
c.2143T>C (p.Phe715Leu)
c.4585T>C (p.Phe1529Leu)
c.4576T>C (p.Phe1526Leu)
c.4567T>C (p.Phe1523Leu)
c.2905T>C (p.Phe969Leu)
Xg.108692789T>GCA413855374COL4A5c.4570T>G (p.Phe1524Val)
c.4552T>G (p.Phe1518Val)
n.1064T>G
c.325-3508T>G
c.4561T>G (p.Phe1521Val)
c.4246T>G (p.Phe1416Val)
c.2143T>G (p.Phe715Val)
c.4585T>G (p.Phe1529Val)
c.4576T>G (p.Phe1526Val)
c.4567T>G (p.Phe1523Val)
c.2905T>G (p.Phe969Val)
 ClinVar dbSNP
Xg.108692790T>ACA413855376COL4A5c.4571T>A (p.Phe1524Tyr)
c.4553T>A (p.Phe1518Tyr)
n.1065T>A
c.325-3507T>A
c.4562T>A (p.Phe1521Tyr)
c.4247T>A (p.Phe1416Tyr)
c.2144T>A (p.Phe715Tyr)
c.4586T>A (p.Phe1529Tyr)
c.4577T>A (p.Phe1526Tyr)
c.4568T>A (p.Phe1523Tyr)
c.2906T>A (p.Phe969Tyr)
Xg.108692790T>CCA413855378COL4A5c.4571T>C (p.Phe1524Ser)
c.4553T>C (p.Phe1518Ser)
n.1065T>C
c.325-3507T>C
c.4562T>C (p.Phe1521Ser)
c.4247T>C (p.Phe1416Ser)
c.2144T>C (p.Phe715Ser)
c.4586T>C (p.Phe1529Ser)
c.4577T>C (p.Phe1526Ser)
c.4568T>C (p.Phe1523Ser)
c.2906T>C (p.Phe969Ser)
Xg.108692790T>GCA413855379COL4A5c.4571T>G (p.Phe1524Cys)
c.4553T>G (p.Phe1518Cys)
n.1065T>G
c.325-3507T>G
c.4562T>G (p.Phe1521Cys)
c.4247T>G (p.Phe1416Cys)
c.2144T>G (p.Phe715Cys)
c.4586T>G (p.Phe1529Cys)
c.4577T>G (p.Phe1526Cys)
c.4568T>G (p.Phe1523Cys)
c.2906T>G (p.Phe969Cys)
Xg.108692791C>ACA413855381COL4A5c.4572C>A (p.Phe1524Leu)
c.4554C>A (p.Phe1518Leu)
n.1066C>A
c.325-3506C>A
c.4563C>A (p.Phe1521Leu)
c.4248C>A (p.Phe1416Leu)
c.2145C>A (p.Phe715Leu)
c.4587C>A (p.Phe1529Leu)
c.4578C>A (p.Phe1526Leu)
c.4569C>A (p.Phe1523Leu)
c.2907C>A (p.Phe969Leu)
Xg.108692791C>GCA413855383COL4A5c.4572C>G (p.Phe1524Leu)
c.4554C>G (p.Phe1518Leu)
n.1066C>G
c.325-3506C>G
c.4563C>G (p.Phe1521Leu)
c.4248C>G (p.Phe1416Leu)
c.2145C>G (p.Phe715Leu)
c.4587C>G (p.Phe1529Leu)
c.4578C>G (p.Phe1526Leu)
c.4569C>G (p.Phe1523Leu)
c.2907C>G (p.Phe969Leu)
Xg.108692791C>TCA517925139COL4A5c.4572C>T (p.Phe1524=)
c.4554C>T (p.Phe1518=)
n.1066C>T
c.325-3506C>T
c.4563C>T (p.Phe1521=)
c.4248C>T (p.Phe1416=)
c.2145C>T (p.Phe715=)
c.4587C>T (p.Phe1529=)
c.4578C>T (p.Phe1526=)
c.4569C>T (p.Phe1523=)
c.2907C>T (p.Phe969=)
Xg.108692792A=CA2450720848COL4A5c.4573A= (p.Met1525=)
c.4555A= (p.Met1519=)
n.1067A=
c.325-3505A=
c.4564A= (p.Met1522=)
c.4249A= (p.Met1417=)
c.2146A= (p.Met716=)
c.4588A= (p.Met1530=)
c.4579A= (p.Met1527=)
c.4570A= (p.Met1524=)
c.2908A= (p.Met970=)
Xg.108692792A>CCA413855385COL4A5c.4573A>C (p.Met1525Leu)
c.4555A>C (p.Met1519Leu)
n.1067A>C
c.325-3505A>C
c.4564A>C (p.Met1522Leu)
c.4249A>C (p.Met1417Leu)
c.2146A>C (p.Met716Leu)
c.4588A>C (p.Met1530Leu)
c.4579A>C (p.Met1527Leu)
c.4570A>C (p.Met1524Leu)
c.2908A>C (p.Met970Leu)
Xg.108692792A>GCA10489383COL4A5c.4573A>G (p.Met1525Val)
c.4555A>G (p.Met1519Val)
n.1067A>G
c.325-3505A>G
c.4564A>G (p.Met1522Val)
c.4249A>G (p.Met1417Val)
c.2146A>G (p.Met716Val)
c.4588A>G (p.Met1530Val)
c.4579A>G (p.Met1527Val)
c.4570A>G (p.Met1524Val)
c.2908A>G (p.Met970Val)
 dbSNP ExAC gnomAD v2
Xg.108692792A>TCA413855388COL4A5c.4573A>T (p.Met1525Leu)
c.4555A>T (p.Met1519Leu)
n.1067A>T
c.325-3505A>T
c.4564A>T (p.Met1522Leu)
c.4249A>T (p.Met1417Leu)
c.2146A>T (p.Met716Leu)
c.4588A>T (p.Met1530Leu)
c.4579A>T (p.Met1527Leu)
c.4570A>T (p.Met1524Leu)
c.2908A>T (p.Met970Leu)
Xg.108692793T>ACA413855394COL4A5c.4574T>A (p.Met1525Lys)
c.4556T>A (p.Met1519Lys)
n.1068T>A
c.325-3504T>A
c.4565T>A (p.Met1522Lys)
c.4250T>A (p.Met1417Lys)
c.2147T>A (p.Met716Lys)
c.4589T>A (p.Met1530Lys)
c.4580T>A (p.Met1527Lys)
c.4571T>A (p.Met1524Lys)
c.2909T>A (p.Met970Lys)
Xg.108692793T>CCA413855392COL4A5c.4574T>C (p.Met1525Thr)
c.4556T>C (p.Met1519Thr)
n.1068T>C
c.325-3504T>C
c.4565T>C (p.Met1522Thr)
c.4250T>C (p.Met1417Thr)
c.2147T>C (p.Met716Thr)
c.4589T>C (p.Met1530Thr)
c.4580T>C (p.Met1527Thr)
c.4571T>C (p.Met1524Thr)
c.2909T>C (p.Met970Thr)
 gnomAD v4
Xg.108692793T>GCA413855390COL4A5c.4574T>G (p.Met1525Arg)
c.4556T>G (p.Met1519Arg)
n.1068T>G
c.325-3504T>G
c.4565T>G (p.Met1522Arg)
c.4250T>G (p.Met1417Arg)
c.2147T>G (p.Met716Arg)
c.4589T>G (p.Met1530Arg)
c.4580T>G (p.Met1527Arg)
c.4571T>G (p.Met1524Arg)
c.2909T>G (p.Met970Arg)
Xg.108692793dupCA2573159119COL4A5c.4574dup (p.Met1525IlefsTer7)
c.4556dup (p.Met1519IlefsTer7)
n.1068dup
c.325-3504dup
c.4565dup (p.Met1522IlefsTer7)
c.4250dup (p.Met1417IlefsTer7)
c.2147dup (p.Met716IlefsTer7)
c.4589dup (p.Met1530IlefsTer7)
c.4580dup (p.Met1527IlefsTer7)
c.4571dup (p.Met1524IlefsTer7)
c.2909dup (p.Met970IlefsTer7)
 ClinVar dbSNP
Xg.108692794G>ACA413855396COL4A5c.4575G>A (p.Met1525Ile)
c.4557G>A (p.Met1519Ile)
n.1069G>A
c.325-3503G>A
c.4566G>A (p.Met1522Ile)
c.4251G>A (p.Met1417Ile)
c.2148G>A (p.Met716Ile)
c.4590G>A (p.Met1530Ile)
c.4581G>A (p.Met1527Ile)
c.4572G>A (p.Met1524Ile)
c.2910G>A (p.Met970Ile)
Xg.108692794G>CCA413855398COL4A5c.4575G>C (p.Met1525Ile)
c.4557G>C (p.Met1519Ile)
n.1069G>C
c.325-3503G>C
c.4566G>C (p.Met1522Ile)
c.4251G>C (p.Met1417Ile)
c.2148G>C (p.Met716Ile)
c.4590G>C (p.Met1530Ile)
c.4581G>C (p.Met1527Ile)
c.4572G>C (p.Met1524Ile)
c.2910G>C (p.Met970Ile)
 ClinVar dbSNP
Xg.108692794G>TCA413855400COL4A5c.4575G>T (p.Met1525Ile)
c.4557G>T (p.Met1519Ile)
n.1069G>T
c.325-3503G>T
c.4566G>T (p.Met1522Ile)
c.4251G>T (p.Met1417Ile)
c.2148G>T (p.Met716Ile)
c.4590G>T (p.Met1530Ile)
c.4581G>T (p.Met1527Ile)
c.4572G>T (p.Met1524Ile)
c.2910G>T (p.Met970Ile)
Xg.108692795T>ACA413855402COL4A5c.4576T>A (p.Phe1526Ile)
c.4558T>A (p.Phe1520Ile)
n.1070T>A
c.325-3502T>A
c.4567T>A (p.Phe1523Ile)
c.4252T>A (p.Phe1418Ile)
c.2149T>A (p.Phe717Ile)
c.4591T>A (p.Phe1531Ile)
c.4582T>A (p.Phe1528Ile)
c.4573T>A (p.Phe1525Ile)
c.2911T>A (p.Phe971Ile)
Xg.108692795T>CCA413855404COL4A5c.4576T>C (p.Phe1526Leu)
c.4558T>C (p.Phe1520Leu)
n.1070T>C
c.325-3502T>C
c.4567T>C (p.Phe1523Leu)
c.4252T>C (p.Phe1418Leu)
c.2149T>C (p.Phe717Leu)
c.4591T>C (p.Phe1531Leu)
c.4582T>C (p.Phe1528Leu)
c.4573T>C (p.Phe1525Leu)
c.2911T>C (p.Phe971Leu)
Xg.108692795T>GCA413855406COL4A5c.4576T>G (p.Phe1526Val)
c.4558T>G (p.Phe1520Val)
n.1070T>G
c.325-3502T>G
c.4567T>G (p.Phe1523Val)
c.4252T>G (p.Phe1418Val)
c.2149T>G (p.Phe717Val)
c.4591T>G (p.Phe1531Val)
c.4582T>G (p.Phe1528Val)
c.4573T>G (p.Phe1525Val)
c.2911T>G (p.Phe971Val)
Xg.108692796T>ACA413855408COL4A5c.4577T>A (p.Phe1526Tyr)
c.4559T>A (p.Phe1520Tyr)
n.1071T>A
c.325-3501T>A
c.4568T>A (p.Phe1523Tyr)
c.4253T>A (p.Phe1418Tyr)
c.2150T>A (p.Phe717Tyr)
c.4592T>A (p.Phe1531Tyr)
c.4583T>A (p.Phe1528Tyr)
c.4574T>A (p.Phe1525Tyr)
c.2912T>A (p.Phe971Tyr)
Xg.108692796T>CCA413855410COL4A5c.4577T>C (p.Phe1526Ser)
c.4559T>C (p.Phe1520Ser)
n.1071T>C
c.325-3501T>C
c.4568T>C (p.Phe1523Ser)
c.4253T>C (p.Phe1418Ser)
c.2150T>C (p.Phe717Ser)
c.4592T>C (p.Phe1531Ser)
c.4583T>C (p.Phe1528Ser)
c.4574T>C (p.Phe1525Ser)
c.2912T>C (p.Phe971Ser)
Xg.108692796T>GCA413855411COL4A5c.4577T>G (p.Phe1526Cys)
c.4559T>G (p.Phe1520Cys)
n.1071T>G
c.325-3501T>G
c.4568T>G (p.Phe1523Cys)
c.4253T>G (p.Phe1418Cys)
c.2150T>G (p.Phe717Cys)
c.4592T>G (p.Phe1531Cys)
c.4583T>G (p.Phe1528Cys)
c.4574T>G (p.Phe1525Cys)
c.2912T>G (p.Phe971Cys)
Xg.108692797C>ACA413855413COL4A5c.4578C>A (p.Phe1526Leu)
c.4560C>A (p.Phe1520Leu)
n.1072C>A
c.325-3500C>A
c.4569C>A (p.Phe1523Leu)
c.4254C>A (p.Phe1418Leu)
c.2151C>A (p.Phe717Leu)
c.4593C>A (p.Phe1531Leu)
c.4584C>A (p.Phe1528Leu)
c.4575C>A (p.Phe1525Leu)
c.2913C>A (p.Phe971Leu)
Xg.108692797C=CA2450720849COL4A5c.4578C= (p.Phe1526=)
c.4560C= (p.Phe1520=)
n.1072C=
c.325-3500C=
c.4569C= (p.Phe1523=)
c.4254C= (p.Phe1418=)
c.2151C= (p.Phe717=)
c.4593C= (p.Phe1531=)
c.4584C= (p.Phe1528=)
c.4575C= (p.Phe1525=)
c.2913C= (p.Phe971=)
Xg.108692797C>GCA413855415COL4A5c.4578C>G (p.Phe1526Leu)
c.4560C>G (p.Phe1520Leu)
n.1072C>G
c.325-3500C>G
c.4569C>G (p.Phe1523Leu)
c.4254C>G (p.Phe1418Leu)
c.2151C>G (p.Phe717Leu)
c.4593C>G (p.Phe1531Leu)
c.4584C>G (p.Phe1528Leu)
c.4575C>G (p.Phe1525Leu)
c.2913C>G (p.Phe971Leu)
Xg.108692797C>TCA517925150COL4A5c.4578C>T (p.Phe1526=)
c.4560C>T (p.Phe1520=)
n.1072C>T
c.325-3500C>T
c.4569C>T (p.Phe1523=)
c.4254C>T (p.Phe1418=)
c.2151C>T (p.Phe717=)
c.4593C>T (p.Phe1531=)
c.4584C>T (p.Phe1528=)
c.4575C>T (p.Phe1525=)
c.2913C>T (p.Phe971=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692798T>ACA10489384COL4A5c.4579T>A (p.Cys1527Ser)
c.4561T>A (p.Cys1521Ser)
n.1073T>A
c.325-3499T>A
c.4570T>A (p.Cys1524Ser)
c.4255T>A (p.Cys1419Ser)
c.2152T>A (p.Cys718Ser)
c.4594T>A (p.Cys1532Ser)
c.4585T>A (p.Cys1529Ser)
c.4576T>A (p.Cys1526Ser)
c.2914T>A (p.Cys972Ser)
 ClinVar dbSNP ExAC gnomAD v2
Xg.108692798T>CCA413855419COL4A5c.4579T>C (p.Cys1527Arg)
c.4561T>C (p.Cys1521Arg)
n.1073T>C
c.325-3499T>C
c.4570T>C (p.Cys1524Arg)
c.4255T>C (p.Cys1419Arg)
c.2152T>C (p.Cys718Arg)
c.4594T>C (p.Cys1532Arg)
c.4585T>C (p.Cys1529Arg)
c.4576T>C (p.Cys1526Arg)
c.2914T>C (p.Cys972Arg)
Xg.108692798T>GCA413855417COL4A5c.4579T>G (p.Cys1527Gly)
c.4561T>G (p.Cys1521Gly)
n.1073T>G
c.325-3499T>G
c.4570T>G (p.Cys1524Gly)
c.4255T>G (p.Cys1419Gly)
c.2152T>G (p.Cys718Gly)
c.4594T>G (p.Cys1532Gly)
c.4585T>G (p.Cys1529Gly)
c.4576T>G (p.Cys1526Gly)
c.2914T>G (p.Cys972Gly)
Xg.108692798T=CA2450720850COL4A5c.4579T= (p.Cys1527=)
c.4561T= (p.Cys1521=)
n.1073T=
c.325-3499T=
c.4570T= (p.Cys1524=)
c.4255T= (p.Cys1419=)
c.2152T= (p.Cys718=)
c.4594T= (p.Cys1532=)
c.4585T= (p.Cys1529=)
c.4576T= (p.Cys1526=)
c.2914T= (p.Cys972=)
Xg.108692799G>ACA413855422COL4A5c.4580G>A (p.Cys1527Tyr)
c.4562G>A (p.Cys1521Tyr)
n.1074G>A
c.325-3498G>A
c.4571G>A (p.Cys1524Tyr)
c.4256G>A (p.Cys1419Tyr)
c.2153G>A (p.Cys718Tyr)
c.4595G>A (p.Cys1532Tyr)
c.4586G>A (p.Cys1529Tyr)
c.4577G>A (p.Cys1526Tyr)
c.2915G>A (p.Cys972Tyr)
 COSMIC COSMIC
Xg.108692799G>CCA413855423COL4A5c.4580G>C (p.Cys1527Ser)
c.4562G>C (p.Cys1521Ser)
n.1074G>C
c.325-3498G>C
c.4571G>C (p.Cys1524Ser)
c.4256G>C (p.Cys1419Ser)
c.2153G>C (p.Cys718Ser)
c.4595G>C (p.Cys1532Ser)
c.4586G>C (p.Cys1529Ser)
c.4577G>C (p.Cys1526Ser)
c.2915G>C (p.Cys972Ser)
Xg.108692799G>TCA413855424COL4A5c.4580G>T (p.Cys1527Phe)
c.4562G>T (p.Cys1521Phe)
n.1074G>T
c.325-3498G>T
c.4571G>T (p.Cys1524Phe)
c.4256G>T (p.Cys1419Phe)
c.2153G>T (p.Cys718Phe)
c.4595G>T (p.Cys1532Phe)
c.4586G>T (p.Cys1529Phe)
c.4577G>T (p.Cys1526Phe)
c.2915G>T (p.Cys972Phe)
Xg.108692800C>ACA259068COL4A5c.4581C>A (p.Cys1527Ter)
c.4563C>A (p.Cys1521Ter)
n.1075C>A
c.325-3497C>A
c.4572C>A (p.Cys1524Ter)
c.4257C>A (p.Cys1419Ter)
c.2154C>A (p.Cys718Ter)
c.4596C>A (p.Cys1532Ter)
c.4587C>A (p.Cys1529Ter)
c.4578C>A (p.Cys1526Ter)
c.2916C>A (p.Cys972Ter)
 dbSNP
Xg.108692800C=CA2450720851COL4A5c.4581C= (p.Cys1527=)
c.4563C= (p.Cys1521=)
n.1075C=
c.325-3497C=
c.4572C= (p.Cys1524=)
c.4257C= (p.Cys1419=)
c.2154C= (p.Cys718=)
c.4596C= (p.Cys1532=)
c.4587C= (p.Cys1529=)
c.4578C= (p.Cys1526=)
c.2916C= (p.Cys972=)
Xg.108692800C>GCA413855427COL4A5c.4581C>G (p.Cys1527Trp)
c.4563C>G (p.Cys1521Trp)
n.1075C>G
c.325-3497C>G
c.4572C>G (p.Cys1524Trp)
c.4257C>G (p.Cys1419Trp)
c.2154C>G (p.Cys718Trp)
c.4596C>G (p.Cys1532Trp)
c.4587C>G (p.Cys1529Trp)
c.4578C>G (p.Cys1526Trp)
c.2916C>G (p.Cys972Trp)
Xg.108692800C>TCA517925160COL4A5c.4581C>T (p.Cys1527=)
c.4563C>T (p.Cys1521=)
n.1075C>T
c.325-3497C>T
c.4572C>T (p.Cys1524=)
c.4257C>T (p.Cys1419=)
c.2154C>T (p.Cys718=)
c.4596C>T (p.Cys1532=)
c.4587C>T (p.Cys1529=)
c.4578C>T (p.Cys1526=)
c.2916C>T (p.Cys972=)
Xg.108692800_108692801delinsCACA2450720852COL4A5c.4581_4582delinsCA (p.Cys1527=)
c.4563_4564delinsCA (p.Cys1521=)
n.1075_1076delinsCA
c.325-3497_325-3496delinsCA
c.4572_4573delinsCA (p.Cys1524=)
c.4257_4258delinsCA (p.Cys1419=)
c.2154_2155delinsCA (p.Cys718=)
c.4596_4597delinsCA (p.Cys1532=)
c.4587_4588delinsCA (p.Cys1529=)
c.4578_4579delinsCA (p.Cys1526=)
c.2916_2917delinsCA (p.Cys972=)
Xg.108692801A=CA2450720853COL4A5c.4582A= (p.Asn1528=)
c.4564A= (p.Asn1522=)
n.1076A=
c.325-3496A=
c.4573A= (p.Asn1525=)
c.4258A= (p.Asn1420=)
c.2155A= (p.Asn719=)
c.4597A= (p.Asn1533=)
c.4588A= (p.Asn1530=)
c.4579A= (p.Asn1527=)
c.2917A= (p.Asn973=)
Xg.108692801A>CCA413855429COL4A5c.4582A>C (p.Asn1528His)
c.4564A>C (p.Asn1522His)
n.1076A>C
c.325-3496A>C
c.4573A>C (p.Asn1525His)
c.4258A>C (p.Asn1420His)
c.2155A>C (p.Asn719His)
c.4597A>C (p.Asn1533His)
c.4588A>C (p.Asn1530His)
c.4579A>C (p.Asn1527His)
c.2917A>C (p.Asn973His)
Xg.108692801A>GCA413855431COL4A5c.4582A>G (p.Asn1528Asp)
c.4564A>G (p.Asn1522Asp)
n.1076A>G
c.325-3496A>G
c.4573A>G (p.Asn1525Asp)
c.4258A>G (p.Asn1420Asp)
c.2155A>G (p.Asn719Asp)
c.4597A>G (p.Asn1533Asp)
c.4588A>G (p.Asn1530Asp)
c.4579A>G (p.Asn1527Asp)
c.2917A>G (p.Asn973Asp)
 dbSNP
Xg.108692801A>TCA413855433COL4A5c.4582A>T (p.Asn1528Tyr)
c.4564A>T (p.Asn1522Tyr)
n.1076A>T
c.325-3496A>T
c.4573A>T (p.Asn1525Tyr)
c.4258A>T (p.Asn1420Tyr)
c.2155A>T (p.Asn719Tyr)
c.4597A>T (p.Asn1533Tyr)
c.4588A>T (p.Asn1530Tyr)
c.4579A>T (p.Asn1527Tyr)
c.2917A>T (p.Asn973Tyr)
Xg.108692802delCA891843692COL4A5c.4583del (p.Asn1528ThrfsTer26)
c.4565del (p.Asn1522ThrfsTer26)
n.1077del
c.325-3495del
c.4574del (p.Asn1525ThrfsTer26)
c.4259del (p.Asn1420ThrfsTer26)
c.2156del (p.Asn719ThrfsTer26)
c.4598del (p.Asn1533ThrfsTer26)
c.4589del (p.Asn1530ThrfsTer26)
c.4580del (p.Asn1527ThrfsTer26)
c.2918del (p.Asn973ThrfsTer26)
Xg.108692802A=CA2450720854COL4A5c.4583A= (p.Asn1528=)
c.4565A= (p.Asn1522=)
n.1077A=
c.325-3495A=
c.4574A= (p.Asn1525=)
c.4259A= (p.Asn1420=)
c.2156A= (p.Asn719=)
c.4598A= (p.Asn1533=)
c.4589A= (p.Asn1530=)
c.4580A= (p.Asn1527=)
c.2918A= (p.Asn973=)
Xg.108692802A>CCA413855435COL4A5c.4583A>C (p.Asn1528Thr)
c.4565A>C (p.Asn1522Thr)
n.1077A>C
c.325-3495A>C
c.4574A>C (p.Asn1525Thr)
c.4259A>C (p.Asn1420Thr)
c.2156A>C (p.Asn719Thr)
c.4598A>C (p.Asn1533Thr)
c.4589A>C (p.Asn1530Thr)
c.4580A>C (p.Asn1527Thr)
c.2918A>C (p.Asn973Thr)
Xg.108692802A>GCA413855437COL4A5c.4583A>G (p.Asn1528Ser)
c.4565A>G (p.Asn1522Ser)
n.1077A>G
c.325-3495A>G
c.4574A>G (p.Asn1525Ser)
c.4259A>G (p.Asn1420Ser)
c.2156A>G (p.Asn719Ser)
c.4598A>G (p.Asn1533Ser)
c.4589A>G (p.Asn1530Ser)
c.4580A>G (p.Asn1527Ser)
c.2918A>G (p.Asn973Ser)
 dbSNP gnomAD v4
Xg.108692802A>TCA413855439COL4A5c.4583A>T (p.Asn1528Ile)
c.4565A>T (p.Asn1522Ile)
n.1077A>T
c.325-3495A>T
c.4574A>T (p.Asn1525Ile)
c.4259A>T (p.Asn1420Ile)
c.2156A>T (p.Asn719Ile)
c.4598A>T (p.Asn1533Ile)
c.4589A>T (p.Asn1530Ile)
c.4580A>T (p.Asn1527Ile)
c.2918A>T (p.Asn973Ile)
Xg.108692802_108692803delinsACCA2450720855COL4A5c.4583_4584delinsAC (p.Asn1528=)
c.4565_4566delinsAC (p.Asn1522=)
n.1077_1078delinsAC
c.325-3495_325-3494delinsAC
c.4574_4575delinsAC (p.Asn1525=)
c.4259_4260delinsAC (p.Asn1420=)
c.2156_2157delinsAC (p.Asn719=)
c.4598_4599delinsAC (p.Asn1533=)
c.4589_4590delinsAC (p.Asn1530=)
c.4580_4581delinsAC (p.Asn1527=)
c.2918_2919delinsAC (p.Asn973=)
Xg.108692803delCA2450720856COL4A5c.4584del (p.Asn1528LysfsTer26)
c.4566del (p.Asn1522LysfsTer26)
n.1078del
c.325-3494del
c.4575del (p.Asn1525LysfsTer26)
c.4260del (p.Asn1420LysfsTer26)
c.2157del (p.Asn719LysfsTer26)
c.4599del (p.Asn1533LysfsTer26)
c.4590del (p.Asn1530LysfsTer26)
c.4581del (p.Asn1527LysfsTer26)
c.2919del (p.Asn973LysfsTer26)
 dbSNP
Xg.108692803C>ACA413855440COL4A5c.4584C>A (p.Asn1528Lys)
c.4566C>A (p.Asn1522Lys)
n.1078C>A
c.325-3494C>A
c.4575C>A (p.Asn1525Lys)
c.4260C>A (p.Asn1420Lys)
c.2157C>A (p.Asn719Lys)
c.4599C>A (p.Asn1533Lys)
c.4590C>A (p.Asn1530Lys)
c.4581C>A (p.Asn1527Lys)
c.2919C>A (p.Asn973Lys)
Xg.108692803C>GCA413855441COL4A5c.4584C>G (p.Asn1528Lys)
c.4566C>G (p.Asn1522Lys)
n.1078C>G
c.325-3494C>G
c.4575C>G (p.Asn1525Lys)
c.4260C>G (p.Asn1420Lys)
c.2157C>G (p.Asn719Lys)
c.4599C>G (p.Asn1533Lys)
c.4590C>G (p.Asn1530Lys)
c.4581C>G (p.Asn1527Lys)
c.2919C>G (p.Asn973Lys)
Xg.108692803C>TCA517925171COL4A5c.4584C>T (p.Asn1528=)
c.4566C>T (p.Asn1522=)
n.1078C>T
c.325-3494C>T
c.4575C>T (p.Asn1525=)
c.4260C>T (p.Asn1420=)
c.2157C>T (p.Asn719=)
c.4599C>T (p.Asn1533=)
c.4590C>T (p.Asn1530=)
c.4581C>T (p.Asn1527=)
c.2919C>T (p.Asn973=)
Xg.108692804A=CA2450720857COL4A5c.4585A= (p.Ile1529=)
c.4567A= (p.Ile1523=)
n.1079A=
c.325-3493A=
c.4576A= (p.Ile1526=)
c.4261A= (p.Ile1421=)
c.2158A= (p.Ile720=)
c.4600A= (p.Ile1534=)
c.4591A= (p.Ile1531=)
c.4582A= (p.Ile1528=)
c.2920A= (p.Ile974=)
Xg.108692804A>CCA10489385COL4A5c.4585A>C (p.Ile1529Leu)
c.4567A>C (p.Ile1523Leu)
n.1079A>C
c.325-3493A>C
c.4576A>C (p.Ile1526Leu)
c.4261A>C (p.Ile1421Leu)
c.2158A>C (p.Ile720Leu)
c.4600A>C (p.Ile1534Leu)
c.4591A>C (p.Ile1531Leu)
c.4582A>C (p.Ile1528Leu)
c.2920A>C (p.Ile974Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108692804A>GCA413855443COL4A5c.4585A>G (p.Ile1529Val)
c.4567A>G (p.Ile1523Val)
n.1079A>G
c.325-3493A>G
c.4576A>G (p.Ile1526Val)
c.4261A>G (p.Ile1421Val)
c.2158A>G (p.Ile720Val)
c.4600A>G (p.Ile1534Val)
c.4591A>G (p.Ile1531Val)
c.4582A>G (p.Ile1528Val)
c.2920A>G (p.Ile974Val)
 gnomAD v4
Xg.108692804A>TCA413855445COL4A5c.4585A>T (p.Ile1529Phe)
c.4567A>T (p.Ile1523Phe)
n.1079A>T
c.325-3493A>T
c.4576A>T (p.Ile1526Phe)
c.4261A>T (p.Ile1421Phe)
c.2158A>T (p.Ile720Phe)
c.4600A>T (p.Ile1534Phe)
c.4591A>T (p.Ile1531Phe)
c.4582A>T (p.Ile1528Phe)
c.2920A>T (p.Ile974Phe)
Xg.108692805T>ACA413855448COL4A5c.4586T>A (p.Ile1529Asn)
c.4568T>A (p.Ile1523Asn)
n.1080T>A
c.325-3492T>A
c.4577T>A (p.Ile1526Asn)
c.4262T>A (p.Ile1421Asn)
c.2159T>A (p.Ile720Asn)
c.4601T>A (p.Ile1534Asn)
c.4592T>A (p.Ile1531Asn)
c.4583T>A (p.Ile1528Asn)
c.2921T>A (p.Ile974Asn)
Xg.108692805T>CCA10489386COL4A5c.4586T>C (p.Ile1529Thr)
c.4568T>C (p.Ile1523Thr)
n.1080T>C
c.325-3492T>C
c.4577T>C (p.Ile1526Thr)
c.4262T>C (p.Ile1421Thr)
c.2159T>C (p.Ile720Thr)
c.4601T>C (p.Ile1534Thr)
c.4592T>C (p.Ile1531Thr)
c.4583T>C (p.Ile1528Thr)
c.2921T>C (p.Ile974Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692805T>GCA413855450COL4A5c.4586T>G (p.Ile1529Ser)
c.4568T>G (p.Ile1523Ser)
n.1080T>G
c.325-3492T>G
c.4577T>G (p.Ile1526Ser)
c.4262T>G (p.Ile1421Ser)
c.2159T>G (p.Ile720Ser)
c.4601T>G (p.Ile1534Ser)
c.4592T>G (p.Ile1531Ser)
c.4583T>G (p.Ile1528Ser)
c.2921T>G (p.Ile974Ser)
Xg.108692805T=CA2450720858COL4A5c.4586T= (p.Ile1529=)
c.4568T= (p.Ile1523=)
n.1080T=
c.325-3492T=
c.4577T= (p.Ile1526=)
c.4262T= (p.Ile1421=)
c.2159T= (p.Ile720=)
c.4601T= (p.Ile1534=)
c.4592T= (p.Ile1531=)
c.4583T= (p.Ile1528=)
c.2921T= (p.Ile974=)
Xg.108692806delCA2579677263COL4A5c.4587del (p.Asn1530IlefsTer24)
c.4569del (p.Asn1524IlefsTer24)
n.1081del
c.325-3491del
c.4578del (p.Asn1527IlefsTer24)
c.4263del (p.Asn1422IlefsTer24)
c.2160del (p.Asn721IlefsTer24)
c.4602del (p.Asn1535IlefsTer24)
c.4593del (p.Asn1532IlefsTer24)
c.4584del (p.Asn1529IlefsTer24)
c.2922del (p.Asn975IlefsTer24)
Xg.108692806C>ACA517925176COL4A5c.4587C>A (p.Ile1529=)
c.4569C>A (p.Ile1523=)
n.1081C>A
c.325-3491C>A
c.4578C>A (p.Ile1526=)
c.4263C>A (p.Ile1421=)
c.2160C>A (p.Ile720=)
c.4602C>A (p.Ile1534=)
c.4593C>A (p.Ile1531=)
c.4584C>A (p.Ile1528=)
c.2922C>A (p.Ile974=)
Xg.108692806C=CA2450720859COL4A5c.4587C= (p.Ile1529=)
c.4569C= (p.Ile1523=)
n.1081C=
c.325-3491C=
c.4578C= (p.Ile1526=)
c.4263C= (p.Ile1421=)
c.2160C= (p.Ile720=)
c.4602C= (p.Ile1534=)
c.4593C= (p.Ile1531=)
c.4584C= (p.Ile1528=)
c.2922C= (p.Ile974=)
Xg.108692806C>GCA413855453COL4A5c.4587C>G (p.Ile1529Met)
c.4569C>G (p.Ile1523Met)
n.1081C>G
c.325-3491C>G
c.4578C>G (p.Ile1526Met)
c.4263C>G (p.Ile1421Met)
c.2160C>G (p.Ile720Met)
c.4602C>G (p.Ile1534Met)
c.4593C>G (p.Ile1531Met)
c.4584C>G (p.Ile1528Met)
c.2922C>G (p.Ile974Met)
Xg.108692806C>TCA517925177COL4A5c.4587C>T (p.Ile1529=)
c.4569C>T (p.Ile1523=)
n.1081C>T
c.325-3491C>T
c.4578C>T (p.Ile1526=)
c.4263C>T (p.Ile1421=)
c.2160C>T (p.Ile720=)
c.4602C>T (p.Ile1534=)
c.4593C>T (p.Ile1531=)
c.4584C>T (p.Ile1528=)
c.2922C>T (p.Ile974=)
 ClinVar dbSNP
Xg.108692807A>CCA413855455COL4A5c.4588A>C (p.Asn1530His)
c.4570A>C (p.Asn1524His)
n.1082A>C
c.325-3490A>C
c.4579A>C (p.Asn1527His)
c.4264A>C (p.Asn1422His)
c.2161A>C (p.Asn721His)
c.4603A>C (p.Asn1535His)
c.4594A>C (p.Asn1532His)
c.4585A>C (p.Asn1529His)
c.2923A>C (p.Asn975His)
Xg.108692807A>GCA413855457COL4A5c.4588A>G (p.Asn1530Asp)
c.4570A>G (p.Asn1524Asp)
n.1082A>G
c.325-3490A>G
c.4579A>G (p.Asn1527Asp)
c.4264A>G (p.Asn1422Asp)
c.2161A>G (p.Asn721Asp)
c.4603A>G (p.Asn1535Asp)
c.4594A>G (p.Asn1532Asp)
c.4585A>G (p.Asn1529Asp)
c.2923A>G (p.Asn975Asp)
Xg.108692807A>TCA413855459COL4A5c.4588A>T (p.Asn1530Tyr)
c.4570A>T (p.Asn1524Tyr)
n.1082A>T
c.325-3490A>T
c.4579A>T (p.Asn1527Tyr)
c.4264A>T (p.Asn1422Tyr)
c.2161A>T (p.Asn721Tyr)
c.4603A>T (p.Asn1535Tyr)
c.4594A>T (p.Asn1532Tyr)
c.4585A>T (p.Asn1529Tyr)
c.2923A>T (p.Asn975Tyr)
Xg.108692808A>CCA413855461COL4A5c.4589A>C (p.Asn1530Thr)
c.4571A>C (p.Asn1524Thr)
n.1083A>C
c.325-3489A>C
c.4580A>C (p.Asn1527Thr)
c.4265A>C (p.Asn1422Thr)
c.2162A>C (p.Asn721Thr)
c.4604A>C (p.Asn1535Thr)
c.4595A>C (p.Asn1532Thr)
c.4586A>C (p.Asn1529Thr)
c.2924A>C (p.Asn975Thr)
Xg.108692808A>GCA413855463COL4A5c.4589A>G (p.Asn1530Ser)
c.4571A>G (p.Asn1524Ser)
n.1083A>G
c.325-3489A>G
c.4580A>G (p.Asn1527Ser)
c.4265A>G (p.Asn1422Ser)
c.2162A>G (p.Asn721Ser)
c.4604A>G (p.Asn1535Ser)
c.4595A>G (p.Asn1532Ser)
c.4586A>G (p.Asn1529Ser)
c.2924A>G (p.Asn975Ser)
 gnomAD v4
Xg.108692808A>TCA413855465COL4A5c.4589A>T (p.Asn1530Ile)
c.4571A>T (p.Asn1524Ile)
n.1083A>T
c.325-3489A>T
c.4580A>T (p.Asn1527Ile)
c.4265A>T (p.Asn1422Ile)
c.2162A>T (p.Asn721Ile)
c.4604A>T (p.Asn1535Ile)
c.4595A>T (p.Asn1532Ile)
c.4586A>T (p.Asn1529Ile)
c.2924A>T (p.Asn975Ile)
Xg.108692809T>ACA413855467COL4A5c.4590T>A (p.Asn1530Lys)
c.4572T>A (p.Asn1524Lys)
n.1084T>A
c.325-3488T>A
c.4581T>A (p.Asn1527Lys)
c.4266T>A (p.Asn1422Lys)
c.2163T>A (p.Asn721Lys)
c.4605T>A (p.Asn1535Lys)
c.4596T>A (p.Asn1532Lys)
c.4587T>A (p.Asn1529Lys)
c.2925T>A (p.Asn975Lys)
Xg.108692809T>CCA517925182COL4A5c.4590T>C (p.Asn1530=)
c.4572T>C (p.Asn1524=)
n.1084T>C
c.325-3488T>C
c.4581T>C (p.Asn1527=)
c.4266T>C (p.Asn1422=)
c.2163T>C (p.Asn721=)
c.4605T>C (p.Asn1535=)
c.4596T>C (p.Asn1532=)
c.4587T>C (p.Asn1529=)
c.2925T>C (p.Asn975=)
Xg.108692809T>GCA413855469COL4A5c.4590T>G (p.Asn1530Lys)
c.4572T>G (p.Asn1524Lys)
n.1084T>G
c.325-3488T>G
c.4581T>G (p.Asn1527Lys)
c.4266T>G (p.Asn1422Lys)
c.2163T>G (p.Asn721Lys)
c.4605T>G (p.Asn1535Lys)
c.4596T>G (p.Asn1532Lys)
c.4587T>G (p.Asn1529Lys)
c.2925T>G (p.Asn975Lys)
Xg.108692810A>CCA413855473COL4A5c.4591A>C (p.Asn1531His)
c.4573A>C (p.Asn1525His)
n.1085A>C
c.325-3487A>C
c.4582A>C (p.Asn1528His)
c.4267A>C (p.Asn1423His)
c.2164A>C (p.Asn722His)
c.4606A>C (p.Asn1536His)
c.4597A>C (p.Asn1533His)
c.4588A>C (p.Asn1530His)
c.2926A>C (p.Asn976His)
Xg.108692810A>GCA413855475COL4A5c.4591A>G (p.Asn1531Asp)
c.4573A>G (p.Asn1525Asp)
n.1085A>G
c.325-3487A>G
c.4582A>G (p.Asn1528Asp)
c.4267A>G (p.Asn1423Asp)
c.2164A>G (p.Asn722Asp)
c.4606A>G (p.Asn1536Asp)
c.4597A>G (p.Asn1533Asp)
c.4588A>G (p.Asn1530Asp)
c.2926A>G (p.Asn976Asp)
 gnomAD v4
Xg.108692810A>TCA413855471COL4A5c.4591A>T (p.Asn1531Tyr)
c.4573A>T (p.Asn1525Tyr)
n.1085A>T
c.325-3487A>T
c.4582A>T (p.Asn1528Tyr)
c.4267A>T (p.Asn1423Tyr)
c.2164A>T (p.Asn722Tyr)
c.4606A>T (p.Asn1536Tyr)
c.4597A>T (p.Asn1533Tyr)
c.4588A>T (p.Asn1530Tyr)
c.2926A>T (p.Asn976Tyr)
Xg.108692811A=CA2450720860COL4A5c.4592A= (p.Asn1531=)
c.4574A= (p.Asn1525=)
n.1086A=
c.325-3486A=
c.4583A= (p.Asn1528=)
c.4268A= (p.Asn1423=)
c.2165A= (p.Asn722=)
c.4607A= (p.Asn1536=)
c.4598A= (p.Asn1533=)
c.4589A= (p.Asn1530=)
c.2927A= (p.Asn976=)
Xg.108692811A>CCA413855479COL4A5c.4592A>C (p.Asn1531Thr)
c.4574A>C (p.Asn1525Thr)
n.1086A>C
c.325-3486A>C
c.4583A>C (p.Asn1528Thr)
c.4268A>C (p.Asn1423Thr)
c.2165A>C (p.Asn722Thr)
c.4607A>C (p.Asn1536Thr)
c.4598A>C (p.Asn1533Thr)
c.4589A>C (p.Asn1530Thr)
c.2927A>C (p.Asn976Thr)
Xg.108692811A>GCA413855477COL4A5c.4592A>G (p.Asn1531Ser)
c.4574A>G (p.Asn1525Ser)
n.1086A>G
c.325-3486A>G
c.4583A>G (p.Asn1528Ser)
c.4268A>G (p.Asn1423Ser)
c.2165A>G (p.Asn722Ser)
c.4607A>G (p.Asn1536Ser)
c.4598A>G (p.Asn1533Ser)
c.4589A>G (p.Asn1530Ser)
c.2927A>G (p.Asn976Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692811A>TCA413855480COL4A5c.4592A>T (p.Asn1531Ile)
c.4574A>T (p.Asn1525Ile)
n.1086A>T
c.325-3486A>T
c.4583A>T (p.Asn1528Ile)
c.4268A>T (p.Asn1423Ile)
c.2165A>T (p.Asn722Ile)
c.4607A>T (p.Asn1536Ile)
c.4598A>T (p.Asn1533Ile)
c.4589A>T (p.Asn1530Ile)
c.2927A>T (p.Asn976Ile)
Xg.108692812T>ACA413855482COL4A5c.4593T>A (p.Asn1531Lys)
c.4575T>A (p.Asn1525Lys)
n.1087T>A
c.325-3485T>A
c.4584T>A (p.Asn1528Lys)
c.4269T>A (p.Asn1423Lys)
c.2166T>A (p.Asn722Lys)
c.4608T>A (p.Asn1536Lys)
c.4599T>A (p.Asn1533Lys)
c.4590T>A (p.Asn1530Lys)
c.2928T>A (p.Asn976Lys)
 dbSNP gnomAD v3 gnomAD v4
Xg.108692812T>CCA517925188COL4A5c.4593T>C (p.Asn1531=)
c.4575T>C (p.Asn1525=)
n.1087T>C
c.325-3485T>C
c.4584T>C (p.Asn1528=)
c.4269T>C (p.Asn1423=)
c.2166T>C (p.Asn722=)
c.4608T>C (p.Asn1536=)
c.4599T>C (p.Asn1533=)
c.4590T>C (p.Asn1530=)
c.2928T>C (p.Asn976=)
 ClinVar
Xg.108692812T>GCA413855484COL4A5c.4593T>G (p.Asn1531Lys)
c.4575T>G (p.Asn1525Lys)
n.1087T>G
c.325-3485T>G
c.4584T>G (p.Asn1528Lys)
c.4269T>G (p.Asn1423Lys)
c.2166T>G (p.Asn722Lys)
c.4608T>G (p.Asn1536Lys)
c.4599T>G (p.Asn1533Lys)
c.4590T>G (p.Asn1530Lys)
c.2928T>G (p.Asn976Lys)
Xg.108692812T=CA2450720861COL4A5c.4593T= (p.Asn1531=)
c.4575T= (p.Asn1525=)
n.1087T=
c.325-3485T=
c.4584T= (p.Asn1528=)
c.4269T= (p.Asn1423=)
c.2166T= (p.Asn722=)
c.4608T= (p.Asn1536=)
c.4599T= (p.Asn1533=)
c.4590T= (p.Asn1530=)
c.2928T= (p.Asn976=)
Xg.108692813G>ACA413855485COL4A5c.4594G>A (p.Val1532Ile)
c.4576G>A (p.Val1526Ile)
n.1088G>A
c.325-3484G>A
c.4585G>A (p.Val1529Ile)
c.4270G>A (p.Val1424Ile)
c.2167G>A (p.Val723Ile)
c.4609G>A (p.Val1537Ile)
c.4600G>A (p.Val1534Ile)
c.4591G>A (p.Val1531Ile)
c.2929G>A (p.Val977Ile)
Xg.108692813G>CCA413855487COL4A5c.4594G>C (p.Val1532Leu)
c.4576G>C (p.Val1526Leu)
n.1088G>C
c.325-3484G>C
c.4585G>C (p.Val1529Leu)
c.4270G>C (p.Val1424Leu)
c.2167G>C (p.Val723Leu)
c.4609G>C (p.Val1537Leu)
c.4600G>C (p.Val1534Leu)
c.4591G>C (p.Val1531Leu)
c.2929G>C (p.Val977Leu)
Xg.108692813G>TCA413855489COL4A5c.4594G>T (p.Val1532Phe)
c.4576G>T (p.Val1526Phe)
n.1088G>T
c.325-3484G>T
c.4585G>T (p.Val1529Phe)
c.4270G>T (p.Val1424Phe)
c.2167G>T (p.Val723Phe)
c.4609G>T (p.Val1537Phe)
c.4600G>T (p.Val1534Phe)
c.4591G>T (p.Val1531Phe)
c.2929G>T (p.Val977Phe)
Xg.108692814T>ACA413855490COL4A5c.4595T>A (p.Val1532Asp)
c.4577T>A (p.Val1526Asp)
n.1089T>A
c.325-3483T>A
c.4586T>A (p.Val1529Asp)
c.4271T>A (p.Val1424Asp)
c.2168T>A (p.Val723Asp)
c.4610T>A (p.Val1537Asp)
c.4601T>A (p.Val1534Asp)
c.4592T>A (p.Val1531Asp)
c.2930T>A (p.Val977Asp)
Xg.108692814T>CCA413855492COL4A5c.4595T>C (p.Val1532Ala)
c.4577T>C (p.Val1526Ala)
n.1089T>C
c.325-3483T>C
c.4586T>C (p.Val1529Ala)
c.4271T>C (p.Val1424Ala)
c.2168T>C (p.Val723Ala)
c.4610T>C (p.Val1537Ala)
c.4601T>C (p.Val1534Ala)
c.4592T>C (p.Val1531Ala)
c.2930T>C (p.Val977Ala)
Xg.108692814T>GCA413855494COL4A5c.4595T>G (p.Val1532Gly)
c.4577T>G (p.Val1526Gly)
n.1089T>G
c.325-3483T>G
c.4586T>G (p.Val1529Gly)
c.4271T>G (p.Val1424Gly)
c.2168T>G (p.Val723Gly)
c.4610T>G (p.Val1537Gly)
c.4601T>G (p.Val1534Gly)
c.4592T>G (p.Val1531Gly)
c.2930T>G (p.Val977Gly)
Xg.108692815T>ACA517925192COL4A5c.4596T>A (p.Val1532=)
c.4578T>A (p.Val1526=)
n.1090T>A
c.325-3482T>A
c.4587T>A (p.Val1529=)
c.4272T>A (p.Val1424=)
c.2169T>A (p.Val723=)
c.4611T>A (p.Val1537=)
c.4602T>A (p.Val1534=)
c.4593T>A (p.Val1531=)
c.2931T>A (p.Val977=)
Xg.108692815T>CCA517925191COL4A5c.4596T>C (p.Val1532=)
c.4578T>C (p.Val1526=)
n.1090T>C
c.325-3482T>C
c.4587T>C (p.Val1529=)
c.4272T>C (p.Val1424=)
c.2169T>C (p.Val723=)
c.4611T>C (p.Val1537=)
c.4602T>C (p.Val1534=)
c.4593T>C (p.Val1531=)
c.2931T>C (p.Val977=)
Xg.108692815T>GCA517925190COL4A5c.4596T>G (p.Val1532=)
c.4578T>G (p.Val1526=)
n.1090T>G
c.325-3482T>G
c.4587T>G (p.Val1529=)
c.4272T>G (p.Val1424=)
c.2169T>G (p.Val723=)
c.4611T>G (p.Val1537=)
c.4602T>G (p.Val1534=)
c.4593T>G (p.Val1531=)
c.2931T>G (p.Val977=)
Xg.108692816T>ACA413855496COL4A5c.4597T>A (p.Cys1533Ser)
c.4579T>A (p.Cys1527Ser)
n.1091T>A
c.325-3481T>A
c.4588T>A (p.Cys1530Ser)
c.4273T>A (p.Cys1425Ser)
c.2170T>A (p.Cys724Ser)
c.4612T>A (p.Cys1538Ser)
c.4603T>A (p.Cys1535Ser)
c.4594T>A (p.Cys1532Ser)
c.2932T>A (p.Cys978Ser)
Xg.108692816T>CCA413855498COL4A5c.4597T>C (p.Cys1533Arg)
c.4579T>C (p.Cys1527Arg)
n.1091T>C
c.325-3481T>C
c.4588T>C (p.Cys1530Arg)
c.4273T>C (p.Cys1425Arg)
c.2170T>C (p.Cys724Arg)
c.4612T>C (p.Cys1538Arg)
c.4603T>C (p.Cys1535Arg)
c.4594T>C (p.Cys1532Arg)
c.2932T>C (p.Cys978Arg)
Xg.108692816T>GCA413855500COL4A5c.4597T>G (p.Cys1533Gly)
c.4579T>G (p.Cys1527Gly)
n.1091T>G
c.325-3481T>G
c.4588T>G (p.Cys1530Gly)
c.4273T>G (p.Cys1425Gly)
c.2170T>G (p.Cys724Gly)
c.4612T>G (p.Cys1538Gly)
c.4603T>G (p.Cys1535Gly)
c.4594T>G (p.Cys1532Gly)
c.2932T>G (p.Cys978Gly)
Xg.108692817G>ACA413855502COL4A5c.4598G>A (p.Cys1533Tyr)
c.4580G>A (p.Cys1527Tyr)
n.1092G>A
c.325-3480G>A
c.4589G>A (p.Cys1530Tyr)
c.4274G>A (p.Cys1425Tyr)
c.2171G>A (p.Cys724Tyr)
c.4613G>A (p.Cys1538Tyr)
c.4604G>A (p.Cys1535Tyr)
c.4595G>A (p.Cys1532Tyr)
c.2933G>A (p.Cys978Tyr)
Xg.108692817G>CCA413855504COL4A5c.4598G>C (p.Cys1533Ser)
c.4580G>C (p.Cys1527Ser)
n.1092G>C
c.325-3480G>C
c.4589G>C (p.Cys1530Ser)
c.4274G>C (p.Cys1425Ser)
c.2171G>C (p.Cys724Ser)
c.4613G>C (p.Cys1538Ser)
c.4604G>C (p.Cys1535Ser)
c.4595G>C (p.Cys1532Ser)
c.2933G>C (p.Cys978Ser)
Xg.108692817G>TCA413855506COL4A5c.4598G>T (p.Cys1533Phe)
c.4580G>T (p.Cys1527Phe)
n.1092G>T
c.325-3480G>T
c.4589G>T (p.Cys1530Phe)
c.4274G>T (p.Cys1425Phe)
c.2171G>T (p.Cys724Phe)
c.4613G>T (p.Cys1538Phe)
c.4604G>T (p.Cys1535Phe)
c.4595G>T (p.Cys1532Phe)
c.2933G>T (p.Cys978Phe)
 ClinVar
Xg.108692818C>ACA413855509COL4A5c.4599C>A (p.Cys1533Ter)
c.4581C>A (p.Cys1527Ter)
n.1093C>A
c.325-3479C>A
c.4590C>A (p.Cys1530Ter)
c.4275C>A (p.Cys1425Ter)
c.2172C>A (p.Cys724Ter)
c.4614C>A (p.Cys1538Ter)
c.4605C>A (p.Cys1535Ter)
c.4596C>A (p.Cys1532Ter)
c.2934C>A (p.Cys978Ter)
Xg.108692818C=CA2450720862COL4A5c.4599C= (p.Cys1533=)
c.4581C= (p.Cys1527=)
n.1093C=
c.325-3479C=
c.4590C= (p.Cys1530=)
c.4275C= (p.Cys1425=)
c.2172C= (p.Cys724=)
c.4614C= (p.Cys1538=)
c.4605C= (p.Cys1535=)
c.4596C= (p.Cys1532=)
c.2934C= (p.Cys978=)
Xg.108692818C>GCA413855507COL4A5c.4599C>G (p.Cys1533Trp)
c.4581C>G (p.Cys1527Trp)
n.1093C>G
c.325-3479C>G
c.4590C>G (p.Cys1530Trp)
c.4275C>G (p.Cys1425Trp)
c.2172C>G (p.Cys724Trp)
c.4614C>G (p.Cys1538Trp)
c.4605C>G (p.Cys1535Trp)
c.4596C>G (p.Cys1532Trp)
c.2934C>G (p.Cys978Trp)
Xg.108692818C>TCA517925194COL4A5c.4599C>T (p.Cys1533=)
c.4581C>T (p.Cys1527=)
n.1093C>T
c.325-3479C>T
c.4590C>T (p.Cys1530=)
c.4275C>T (p.Cys1425=)
c.2172C>T (p.Cys724=)
c.4614C>T (p.Cys1538=)
c.4605C>T (p.Cys1535=)
c.4596C>T (p.Cys1532=)
c.2934C>T (p.Cys978=)
 ClinVar dbSNP gnomAD v4
Xg.108692819A=CA2450720863COL4A5c.4600A= (p.Asn1534=)
c.4582A= (p.Asn1528=)
n.1094A=
c.325-3478A=
c.4591A= (p.Asn1531=)
c.4276A= (p.Asn1426=)
c.2173A= (p.Asn725=)
c.4615A= (p.Asn1539=)
c.4606A= (p.Asn1536=)
c.4597A= (p.Asn1533=)
c.2935A= (p.Asn979=)
Xg.108692819A>CCA413855510COL4A5c.4600A>C (p.Asn1534His)
c.4582A>C (p.Asn1528His)
n.1094A>C
c.325-3478A>C
c.4591A>C (p.Asn1531His)
c.4276A>C (p.Asn1426His)
c.2173A>C (p.Asn725His)
c.4615A>C (p.Asn1539His)
c.4606A>C (p.Asn1536His)
c.4597A>C (p.Asn1533His)
c.2935A>C (p.Asn979His)
 dbSNP gnomAD v3 gnomAD v4
Xg.108692819A>GCA413855512COL4A5c.4600A>G (p.Asn1534Asp)
c.4582A>G (p.Asn1528Asp)
n.1094A>G
c.325-3478A>G
c.4591A>G (p.Asn1531Asp)
c.4276A>G (p.Asn1426Asp)
c.2173A>G (p.Asn725Asp)
c.4615A>G (p.Asn1539Asp)
c.4606A>G (p.Asn1536Asp)
c.4597A>G (p.Asn1533Asp)
c.2935A>G (p.Asn979Asp)
Xg.108692819A>TCA413855514COL4A5c.4600A>T (p.Asn1534Tyr)
c.4582A>T (p.Asn1528Tyr)
n.1094A>T
c.325-3478A>T
c.4591A>T (p.Asn1531Tyr)
c.4276A>T (p.Asn1426Tyr)
c.2173A>T (p.Asn725Tyr)
c.4615A>T (p.Asn1539Tyr)
c.4606A>T (p.Asn1536Tyr)
c.4597A>T (p.Asn1533Tyr)
c.2935A>T (p.Asn979Tyr)
Xg.108692820A>CCA413855516COL4A5c.4601A>C (p.Asn1534Thr)
c.4583A>C (p.Asn1528Thr)
n.1095A>C
c.325-3477A>C
c.4592A>C (p.Asn1531Thr)
c.4277A>C (p.Asn1426Thr)
c.2174A>C (p.Asn725Thr)
c.4616A>C (p.Asn1539Thr)
c.4607A>C (p.Asn1536Thr)
c.4598A>C (p.Asn1533Thr)
c.2936A>C (p.Asn979Thr)
Xg.108692820A>GCA413855518COL4A5c.4601A>G (p.Asn1534Ser)
c.4583A>G (p.Asn1528Ser)
n.1095A>G
c.325-3477A>G
c.4592A>G (p.Asn1531Ser)
c.4277A>G (p.Asn1426Ser)
c.2174A>G (p.Asn725Ser)
c.4616A>G (p.Asn1539Ser)
c.4607A>G (p.Asn1536Ser)
c.4598A>G (p.Asn1533Ser)
c.2936A>G (p.Asn979Ser)
Xg.108692820A>TCA413855520COL4A5c.4601A>T (p.Asn1534Ile)
c.4583A>T (p.Asn1528Ile)
n.1095A>T
c.325-3477A>T
c.4592A>T (p.Asn1531Ile)
c.4277A>T (p.Asn1426Ile)
c.2174A>T (p.Asn725Ile)
c.4616A>T (p.Asn1539Ile)
c.4607A>T (p.Asn1536Ile)
c.4598A>T (p.Asn1533Ile)
c.2936A>T (p.Asn979Ile)
Xg.108692821C>ACA413855522COL4A5c.4602C>A (p.Asn1534Lys)
c.4584C>A (p.Asn1528Lys)
n.1096C>A
c.325-3476C>A
c.4593C>A (p.Asn1531Lys)
c.4278C>A (p.Asn1426Lys)
c.2175C>A (p.Asn725Lys)
c.4617C>A (p.Asn1539Lys)
c.4608C>A (p.Asn1536Lys)
c.4599C>A (p.Asn1533Lys)
c.2937C>A (p.Asn979Lys)
Xg.108692821C=CA2450720864COL4A5c.4602C= (p.Asn1534=)
c.4584C= (p.Asn1528=)
n.1096C=
c.325-3476C=
c.4593C= (p.Asn1531=)
c.4278C= (p.Asn1426=)
c.2175C= (p.Asn725=)
c.4617C= (p.Asn1539=)
c.4608C= (p.Asn1536=)
c.4599C= (p.Asn1533=)
c.2937C= (p.Asn979=)
Xg.108692821C>GCA413855524COL4A5c.4602C>G (p.Asn1534Lys)
c.4584C>G (p.Asn1528Lys)
n.1096C>G
c.325-3476C>G
c.4593C>G (p.Asn1531Lys)
c.4278C>G (p.Asn1426Lys)
c.2175C>G (p.Asn725Lys)
c.4617C>G (p.Asn1539Lys)
c.4608C>G (p.Asn1536Lys)
c.4599C>G (p.Asn1533Lys)
c.2937C>G (p.Asn979Lys)
Xg.108692821C>TCA10489387COL4A5c.4602C>T (p.Asn1534=)
c.4584C>T (p.Asn1528=)
n.1096C>T
c.325-3476C>T
c.4593C>T (p.Asn1531=)
c.4278C>T (p.Asn1426=)
c.2175C>T (p.Asn725=)
c.4617C>T (p.Asn1539=)
c.4608C>T (p.Asn1536=)
c.4599C>T (p.Asn1533=)
c.2937C>T (p.Asn979=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108692822T>ACA413855527COL4A5c.4603T>A (p.Phe1535Ile)
c.4585T>A (p.Phe1529Ile)
n.1097T>A
c.1T>A (p.Phe1Ile)
c.325-3475T>A
c.4594T>A (p.Phe1532Ile)
c.4279T>A (p.Phe1427Ile)
c.2176T>A (p.Phe726Ile)
c.4618T>A (p.Phe1540Ile)
c.4609T>A (p.Phe1537Ile)
c.4600T>A (p.Phe1534Ile)
c.2938T>A (p.Phe980Ile)
Xg.108692822T>CCA413855529COL4A5c.4603T>C (p.Phe1535Leu)
c.4585T>C (p.Phe1529Leu)
n.1097T>C
c.1T>C (p.Phe1Leu)
c.325-3475T>C
c.4594T>C (p.Phe1532Leu)
c.4279T>C (p.Phe1427Leu)
c.2176T>C (p.Phe726Leu)
c.4618T>C (p.Phe1540Leu)
c.4609T>C (p.Phe1537Leu)
c.4600T>C (p.Phe1534Leu)
c.2938T>C (p.Phe980Leu)
Xg.108692822T>GCA413855531COL4A5c.4603T>G (p.Phe1535Val)
c.4585T>G (p.Phe1529Val)
n.1097T>G
c.1T>G (p.Phe1Val)
c.325-3475T>G
c.4594T>G (p.Phe1532Val)
c.4279T>G (p.Phe1427Val)
c.2176T>G (p.Phe726Val)
c.4618T>G (p.Phe1540Val)
c.4609T>G (p.Phe1537Val)
c.4600T>G (p.Phe1534Val)
c.2938T>G (p.Phe980Val)
Xg.108692823T>ACA413855535COL4A5c.4604T>A (p.Phe1535Tyr)
c.4586T>A (p.Phe1529Tyr)
n.1098T>A
c.2T>A (p.Phe1Tyr)
c.325-3474T>A
c.4595T>A (p.Phe1532Tyr)
c.4280T>A (p.Phe1427Tyr)
c.2177T>A (p.Phe726Tyr)
c.4619T>A (p.Phe1540Tyr)
c.4610T>A (p.Phe1537Tyr)
c.4601T>A (p.Phe1534Tyr)
c.2939T>A (p.Phe980Tyr)
Xg.108692823T>CCA413855537COL4A5c.4604T>C (p.Phe1535Ser)
c.4586T>C (p.Phe1529Ser)
n.1098T>C
c.2T>C (p.Phe1Ser)
c.325-3474T>C
c.4595T>C (p.Phe1532Ser)
c.4280T>C (p.Phe1427Ser)
c.2177T>C (p.Phe726Ser)
c.4619T>C (p.Phe1540Ser)
c.4610T>C (p.Phe1537Ser)
c.4601T>C (p.Phe1534Ser)
c.2939T>C (p.Phe980Ser)
Xg.108692823T>GCA413855533COL4A5c.4604T>G (p.Phe1535Cys)
c.4586T>G (p.Phe1529Cys)
n.1098T>G
c.2T>G (p.Phe1Cys)
c.325-3474T>G
c.4595T>G (p.Phe1532Cys)
c.4280T>G (p.Phe1427Cys)
c.2177T>G (p.Phe726Cys)
c.4619T>G (p.Phe1540Cys)
c.4610T>G (p.Phe1537Cys)
c.4601T>G (p.Phe1534Cys)
c.2939T>G (p.Phe980Cys)
 dbSNP gnomAD v3 gnomAD v4
Xg.108692823T=CA2450720865COL4A5c.4604T= (p.Phe1535=)
c.4586T= (p.Phe1529=)
n.1098T=
c.2T= (p.Phe1=)
c.325-3474T=
c.4595T= (p.Phe1532=)
c.4280T= (p.Phe1427=)
c.2177T= (p.Phe726=)
c.4619T= (p.Phe1540=)
c.4610T= (p.Phe1537=)
c.4601T= (p.Phe1534=)
c.2939T= (p.Phe980=)
Xg.108692824T>ACA413855539COL4A5c.4605T>A (p.Phe1535Leu)
c.4587T>A (p.Phe1529Leu)
n.1099T>A
c.3T>A (p.Phe1Leu)
c.325-3473T>A
c.4596T>A (p.Phe1532Leu)
c.4281T>A (p.Phe1427Leu)
c.2178T>A (p.Phe726Leu)
c.4620T>A (p.Phe1540Leu)
c.4611T>A (p.Phe1537Leu)
c.4602T>A (p.Phe1534Leu)
c.2940T>A (p.Phe980Leu)
Xg.108692824T>CCA10489388COL4A5c.4605T>C (p.Phe1535=)
c.4587T>C (p.Phe1529=)
n.1099T>C
c.3T>C (p.Phe1=)
c.325-3473T>C
c.4596T>C (p.Phe1532=)
c.4281T>C (p.Phe1427=)
c.2178T>C (p.Phe726=)
c.4620T>C (p.Phe1540=)
c.4611T>C (p.Phe1537=)
c.4602T>C (p.Phe1534=)
c.2940T>C (p.Phe980=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108692824T>GCA413855542COL4A5c.4605T>G (p.Phe1535Leu)
c.4587T>G (p.Phe1529Leu)
n.1099T>G
c.3T>G (p.Phe1Leu)
c.325-3473T>G
c.4596T>G (p.Phe1532Leu)
c.4281T>G (p.Phe1427Leu)
c.2178T>G (p.Phe726Leu)
c.4620T>G (p.Phe1540Leu)
c.4611T>G (p.Phe1537Leu)
c.4602T>G (p.Phe1534Leu)
c.2940T>G (p.Phe980Leu)
Xg.108692824T=CA2450720866COL4A5c.4605T= (p.Phe1535=)
c.4587T= (p.Phe1529=)
n.1099T=
c.3T= (p.Phe1=)
c.325-3473T=
c.4596T= (p.Phe1532=)
c.4281T= (p.Phe1427=)
c.2178T= (p.Phe726=)
c.4620T= (p.Phe1540=)
c.4611T= (p.Phe1537=)
c.4602T= (p.Phe1534=)
c.2940T= (p.Phe980=)
Xg.108692825G>ACA413855543COL4A5c.4606G>A (p.Ala1536Thr)
c.4588G>A (p.Ala1530Thr)
n.1100G>A
c.4G>A (p.Ala2Thr)
c.325-3472G>A
c.4597G>A (p.Ala1533Thr)
c.4282G>A (p.Ala1428Thr)
c.2179G>A (p.Ala727Thr)
c.4621G>A (p.Ala1541Thr)
c.4612G>A (p.Ala1538Thr)
c.4603G>A (p.Ala1535Thr)
c.2941G>A (p.Ala981Thr)
Xg.108692825G>CCA413855544COL4A5c.4606G>C (p.Ala1536Pro)
c.4588G>C (p.Ala1530Pro)
n.1100G>C
c.4G>C (p.Ala2Pro)
c.325-3472G>C
c.4597G>C (p.Ala1533Pro)
c.4282G>C (p.Ala1428Pro)
c.2179G>C (p.Ala727Pro)
c.4621G>C (p.Ala1541Pro)
c.4612G>C (p.Ala1538Pro)
c.4603G>C (p.Ala1535Pro)
c.2941G>C (p.Ala981Pro)
Xg.108692825G>TCA413855546COL4A5c.4606G>T (p.Ala1536Ser)
c.4588G>T (p.Ala1530Ser)
n.1100G>T
c.4G>T (p.Ala2Ser)
c.325-3472G>T
c.4597G>T (p.Ala1533Ser)
c.4282G>T (p.Ala1428Ser)
c.2179G>T (p.Ala727Ser)
c.4621G>T (p.Ala1541Ser)
c.4612G>T (p.Ala1538Ser)
c.4603G>T (p.Ala1535Ser)
c.2941G>T (p.Ala981Ser)
 dbSNP
Xg.108692826C>ACA413855548COL4A5c.4607C>A (p.Ala1536Asp)
c.4589C>A (p.Ala1530Asp)
n.1101C>A
c.5C>A (p.Ala2Asp)
c.325-3471C>A
c.4598C>A (p.Ala1533Asp)
c.4283C>A (p.Ala1428Asp)
c.2180C>A (p.Ala727Asp)
c.4622C>A (p.Ala1541Asp)
c.4613C>A (p.Ala1538Asp)
c.4604C>A (p.Ala1535Asp)
c.2942C>A (p.Ala981Asp)
Xg.108692826C>GCA413855550COL4A5c.4607C>G (p.Ala1536Gly)
c.4589C>G (p.Ala1530Gly)
n.1101C>G
c.5C>G (p.Ala2Gly)
c.325-3471C>G
c.4598C>G (p.Ala1533Gly)
c.4283C>G (p.Ala1428Gly)
c.2180C>G (p.Ala727Gly)
c.4622C>G (p.Ala1541Gly)
c.4613C>G (p.Ala1538Gly)
c.4604C>G (p.Ala1535Gly)
c.2942C>G (p.Ala981Gly)
Xg.108692826C>TCA413855551COL4A5c.4607C>T (p.Ala1536Val)
c.4589C>T (p.Ala1530Val)
n.1101C>T
c.5C>T (p.Ala2Val)
c.325-3471C>T
c.4598C>T (p.Ala1533Val)
c.4283C>T (p.Ala1428Val)
c.2180C>T (p.Ala727Val)
c.4622C>T (p.Ala1541Val)
c.4613C>T (p.Ala1538Val)
c.4604C>T (p.Ala1535Val)
c.2942C>T (p.Ala981Val)
Xg.108692827T>ACA517925204COL4A5c.4608T>A (p.Ala1536=)
c.4590T>A (p.Ala1530=)
n.1102T>A
c.6T>A (p.Ala2=)
c.325-3470T>A
c.4599T>A (p.Ala1533=)
c.4284T>A (p.Ala1428=)
c.2181T>A (p.Ala727=)
c.4623T>A (p.Ala1541=)
c.4614T>A (p.Ala1538=)
c.4605T>A (p.Ala1535=)
c.2943T>A (p.Ala981=)
Xg.108692827T>CCA517925206COL4A5c.4608T>C (p.Ala1536=)
c.4590T>C (p.Ala1530=)
n.1102T>C
c.6T>C (p.Ala2=)
c.325-3470T>C
c.4599T>C (p.Ala1533=)
c.4284T>C (p.Ala1428=)
c.2181T>C (p.Ala727=)
c.4623T>C (p.Ala1541=)
c.4614T>C (p.Ala1538=)
c.4605T>C (p.Ala1535=)
c.2943T>C (p.Ala981=)
Xg.108692827T>GCA517925207COL4A5c.4608T>G (p.Ala1536=)
c.4590T>G (p.Ala1530=)
n.1102T>G
c.6T>G (p.Ala2=)
c.325-3470T>G
c.4599T>G (p.Ala1533=)
c.4284T>G (p.Ala1428=)
c.2181T>G (p.Ala727=)
c.4623T>G (p.Ala1541=)
c.4614T>G (p.Ala1538=)
c.4605T>G (p.Ala1535=)
c.2943T>G (p.Ala981=)
Xg.108692828T>ACA413855553COL4A5c.4609T>A (p.Ser1537Thr)
c.4591T>A (p.Ser1531Thr)
n.1103T>A
c.7T>A (p.Ser3Thr)
c.325-3469T>A
c.4600T>A (p.Ser1534Thr)
c.4285T>A (p.Ser1429Thr)
c.2182T>A (p.Ser728Thr)
c.4624T>A (p.Ser1542Thr)
c.4615T>A (p.Ser1539Thr)
c.4606T>A (p.Ser1536Thr)
c.2944T>A (p.Ser982Thr)
Xg.108692828T>CCA413855555COL4A5c.4609T>C (p.Ser1537Pro)
c.4591T>C (p.Ser1531Pro)
n.1103T>C
c.7T>C (p.Ser3Pro)
c.325-3469T>C
c.4600T>C (p.Ser1534Pro)
c.4285T>C (p.Ser1429Pro)
c.2182T>C (p.Ser728Pro)
c.4624T>C (p.Ser1542Pro)
c.4615T>C (p.Ser1539Pro)
c.4606T>C (p.Ser1536Pro)
c.2944T>C (p.Ser982Pro)
Xg.108692828T>GCA413855557COL4A5c.4609T>G (p.Ser1537Ala)
c.4591T>G (p.Ser1531Ala)
n.1103T>G
c.7T>G (p.Ser3Ala)
c.325-3469T>G
c.4600T>G (p.Ser1534Ala)
c.4285T>G (p.Ser1429Ala)
c.2182T>G (p.Ser728Ala)
c.4624T>G (p.Ser1542Ala)
c.4615T>G (p.Ser1539Ala)
c.4606T>G (p.Ser1536Ala)
c.2944T>G (p.Ser982Ala)
Xg.108692828_108692829delCA2580100182COL4A5c.4609_4610del (p.Ser1537LysfsTer3)
c.4591_4592del (p.Ser1531LysfsTer3)
n.1103_1104del
c.7_8del (p.Ser3LysfsTer3)
c.325-3469_325-3468del
c.4600_4601del (p.Ser1534LysfsTer3)
c.4285_4286del (p.Ser1429LysfsTer3)
c.2182_2183del (p.Ser728LysfsTer3)
c.4624_4625del (p.Ser1542LysfsTer3)
c.4615_4616del (p.Ser1539LysfsTer3)
c.4606_4607del (p.Ser1536LysfsTer3)
c.2944_2945del (p.Ser982LysfsTer3)
 ClinVar
Xg.108692829C>ACA413855560COL4A5c.4610C>A (p.Ser1537Ter)
c.4592C>A (p.Ser1531Ter)
n.1104C>A
c.8C>A (p.Ser3Ter)
c.325-3468C>A
c.4601C>A (p.Ser1534Ter)
c.4286C>A (p.Ser1429Ter)
c.2183C>A (p.Ser728Ter)
c.4625C>A (p.Ser1542Ter)
c.4616C>A (p.Ser1539Ter)
c.4607C>A (p.Ser1536Ter)
c.2945C>A (p.Ser982Ter)
Xg.108692829C>GCA413855562COL4A5c.4610C>G (p.Ser1537Ter)
c.4592C>G (p.Ser1531Ter)
n.1104C>G
c.8C>G (p.Ser3Ter)
c.325-3468C>G
c.4601C>G (p.Ser1534Ter)
c.4286C>G (p.Ser1429Ter)
c.2183C>G (p.Ser728Ter)
c.4625C>G (p.Ser1542Ter)
c.4616C>G (p.Ser1539Ter)
c.4607C>G (p.Ser1536Ter)
c.2945C>G (p.Ser982Ter)
Xg.108692829C>TCA413855558COL4A5c.4610C>T (p.Ser1537Leu)
c.4592C>T (p.Ser1531Leu)
n.1104C>T
c.8C>T (p.Ser3Leu)
c.325-3468C>T
c.4601C>T (p.Ser1534Leu)
c.4286C>T (p.Ser1429Leu)
c.2183C>T (p.Ser728Leu)
c.4625C>T (p.Ser1542Leu)
c.4616C>T (p.Ser1539Leu)
c.4607C>T (p.Ser1536Leu)
c.2945C>T (p.Ser982Leu)
Xg.108692830A>CCA517925214COL4A5c.4611A>C (p.Ser1537=)
c.4593A>C (p.Ser1531=)
n.1105A>C
c.9A>C (p.Ser3=)
c.325-3467A>C
c.4602A>C (p.Ser1534=)
c.4287A>C (p.Ser1429=)
c.2184A>C (p.Ser728=)
c.4626A>C (p.Ser1542=)
c.4617A>C (p.Ser1539=)
c.4608A>C (p.Ser1536=)
c.2946A>C (p.Ser982=)
Xg.108692830A>GCA517925215COL4A5c.4611A>G (p.Ser1537=)
c.4593A>G (p.Ser1531=)
n.1105A>G
c.9A>G (p.Ser3=)
c.325-3467A>G
c.4602A>G (p.Ser1534=)
c.4287A>G (p.Ser1429=)
c.2184A>G (p.Ser728=)
c.4626A>G (p.Ser1542=)
c.4617A>G (p.Ser1539=)
c.4608A>G (p.Ser1536=)
c.2946A>G (p.Ser982=)
Xg.108692830A>TCA517925216COL4A5c.4611A>T (p.Ser1537=)
c.4593A>T (p.Ser1531=)
n.1105A>T
c.9A>T (p.Ser3=)
c.325-3467A>T
c.4602A>T (p.Ser1534=)
c.4287A>T (p.Ser1429=)
c.2184A>T (p.Ser728=)
c.4626A>T (p.Ser1542=)
c.4617A>T (p.Ser1539=)
c.4608A>T (p.Ser1536=)
c.2946A>T (p.Ser982=)
Xg.108692831A=CA2450720867COL4A5c.4612A= (p.Arg1538=)
c.4594A= (p.Arg1532=)
n.1106A=
c.10A= (p.Arg4=)
c.325-3466A=
c.4603A= (p.Arg1535=)
c.4288A= (p.Arg1430=)
c.2185A= (p.Arg729=)
c.4627A= (p.Arg1543=)
c.4618A= (p.Arg1540=)
c.4609A= (p.Arg1537=)
c.2947A= (p.Arg983=)
Xg.108692831A>CCA10489389COL4A5c.4612A>C (p.Arg1538=)
c.4594A>C (p.Arg1532=)
n.1106A>C
c.10A>C (p.Arg4=)
c.325-3466A>C
c.4603A>C (p.Arg1535=)
c.4288A>C (p.Arg1430=)
c.2185A>C (p.Arg729=)
c.4627A>C (p.Arg1543=)
c.4618A>C (p.Arg1540=)
c.4609A>C (p.Arg1537=)
c.2947A>C (p.Arg983=)
 dbSNP ExAC
Xg.108692831A>GCA413855565COL4A5c.4612A>G (p.Arg1538Gly)
c.4594A>G (p.Arg1532Gly)
n.1106A>G
c.10A>G (p.Arg4Gly)
c.325-3466A>G
c.4603A>G (p.Arg1535Gly)
c.4288A>G (p.Arg1430Gly)
c.2185A>G (p.Arg729Gly)
c.4627A>G (p.Arg1543Gly)
c.4618A>G (p.Arg1540Gly)
c.4609A>G (p.Arg1537Gly)
c.2947A>G (p.Arg983Gly)
 dbSNP COSMIC COSMIC
Xg.108692831A>TCA413855567COL4A5c.4612A>T (p.Arg1538Ter)
c.4594A>T (p.Arg1532Ter)
n.1106A>T
c.10A>T (p.Arg4Ter)
c.325-3466A>T
c.4603A>T (p.Arg1535Ter)
c.4288A>T (p.Arg1430Ter)
c.2185A>T (p.Arg729Ter)
c.4627A>T (p.Arg1543Ter)
c.4618A>T (p.Arg1540Ter)
c.4609A>T (p.Arg1537Ter)
c.2947A>T (p.Arg983Ter)
Xg.108692832G>ACA413855569COL4A5c.4613G>A (p.Arg1538Lys)
c.4595G>A (p.Arg1532Lys)
n.1107G>A
c.11G>A (p.Arg4Lys)
c.325-3465G>A
c.4604G>A (p.Arg1535Lys)
c.4289G>A (p.Arg1430Lys)
c.2186G>A (p.Arg729Lys)
c.4628G>A (p.Arg1543Lys)
c.4619G>A (p.Arg1540Lys)
c.4610G>A (p.Arg1537Lys)
c.2948G>A (p.Arg983Lys)
 gnomAD v4
Xg.108692832G>CCA413855571COL4A5c.4613G>C (p.Arg1538Thr)
c.4595G>C (p.Arg1532Thr)
n.1107G>C
c.11G>C (p.Arg4Thr)
c.325-3465G>C
c.4604G>C (p.Arg1535Thr)
c.4289G>C (p.Arg1430Thr)
c.2186G>C (p.Arg729Thr)
c.4628G>C (p.Arg1543Thr)
c.4619G>C (p.Arg1540Thr)
c.4610G>C (p.Arg1537Thr)
c.2948G>C (p.Arg983Thr)
Xg.108692832G>TCA413855573COL4A5c.4613G>T (p.Arg1538Ile)
c.4595G>T (p.Arg1532Ile)
n.1107G>T
c.11G>T (p.Arg4Ile)
c.325-3465G>T
c.4604G>T (p.Arg1535Ile)
c.4289G>T (p.Arg1430Ile)
c.2186G>T (p.Arg729Ile)
c.4628G>T (p.Arg1543Ile)
c.4619G>T (p.Arg1540Ile)
c.4610G>T (p.Arg1537Ile)
c.2948G>T (p.Arg983Ile)
 COSMIC
Xg.108692833A>CCA413855575COL4A5c.4614A>C (p.Arg1538Ser)
c.4596A>C (p.Arg1532Ser)
n.1108A>C
c.12A>C (p.Arg4Ser)
c.325-3464A>C
c.4605A>C (p.Arg1535Ser)
c.4290A>C (p.Arg1430Ser)
c.2187A>C (p.Arg729Ser)
c.4629A>C (p.Arg1543Ser)
c.4620A>C (p.Arg1540Ser)
c.4611A>C (p.Arg1537Ser)
c.2949A>C (p.Arg983Ser)
Xg.108692833A>GCA517925221COL4A5c.4614A>G (p.Arg1538=)
c.4596A>G (p.Arg1532=)
n.1108A>G
c.12A>G (p.Arg4=)
c.325-3464A>G
c.4605A>G (p.Arg1535=)
c.4290A>G (p.Arg1430=)
c.2187A>G (p.Arg729=)
c.4629A>G (p.Arg1543=)
c.4620A>G (p.Arg1540=)
c.4611A>G (p.Arg1537=)
c.2949A>G (p.Arg983=)
Xg.108692833A>TCA413855577COL4A5c.4614A>T (p.Arg1538Ser)
c.4596A>T (p.Arg1532Ser)
n.1108A>T
c.12A>T (p.Arg4Ser)
c.325-3464A>T
c.4605A>T (p.Arg1535Ser)
c.4290A>T (p.Arg1430Ser)
c.2187A>T (p.Arg729Ser)
c.4629A>T (p.Arg1543Ser)
c.4620A>T (p.Arg1540Ser)
c.4611A>T (p.Arg1537Ser)
c.2949A>T (p.Arg983Ser)
Xg.108692834A>CCA413855578COL4A5c.4615A>C (p.Asn1539His)
c.4597A>C (p.Asn1533His)
n.1109A>C
c.13A>C (p.Asn5His)
c.325-3463A>C
c.4606A>C (p.Asn1536His)
c.4291A>C (p.Asn1431His)
c.2188A>C (p.Asn730His)
c.4630A>C (p.Asn1544His)
c.4621A>C (p.Asn1541His)
c.4612A>C (p.Asn1538His)
c.2950A>C (p.Asn984His)
Xg.108692834A>GCA413855580COL4A5c.4615A>G (p.Asn1539Asp)
c.4597A>G (p.Asn1533Asp)
n.1109A>G
c.13A>G (p.Asn5Asp)
c.325-3463A>G
c.4606A>G (p.Asn1536Asp)
c.4291A>G (p.Asn1431Asp)
c.2188A>G (p.Asn730Asp)
c.4630A>G (p.Asn1544Asp)
c.4621A>G (p.Asn1541Asp)
c.4612A>G (p.Asn1538Asp)
c.2950A>G (p.Asn984Asp)
Xg.108692834A>TCA413855582COL4A5c.4615A>T (p.Asn1539Tyr)
c.4597A>T (p.Asn1533Tyr)
n.1109A>T
c.13A>T (p.Asn5Tyr)
c.325-3463A>T
c.4606A>T (p.Asn1536Tyr)
c.4291A>T (p.Asn1431Tyr)
c.2188A>T (p.Asn730Tyr)
c.4630A>T (p.Asn1544Tyr)
c.4621A>T (p.Asn1541Tyr)
c.4612A>T (p.Asn1538Tyr)
c.2950A>T (p.Asn984Tyr)
Xg.108692835A>CCA413855584COL4A5c.4616A>C (p.Asn1539Thr)
c.4598A>C (p.Asn1533Thr)
n.1110A>C
c.14A>C (p.Asn5Thr)
c.325-3462A>C
c.4607A>C (p.Asn1536Thr)
c.4292A>C (p.Asn1431Thr)
c.2189A>C (p.Asn730Thr)
c.4631A>C (p.Asn1544Thr)
c.4622A>C (p.Asn1541Thr)
c.4613A>C (p.Asn1538Thr)
c.2951A>C (p.Asn984Thr)
Xg.108692835A>GCA413855585COL4A5c.4616A>G (p.Asn1539Ser)
c.4598A>G (p.Asn1533Ser)
n.1110A>G
c.14A>G (p.Asn5Ser)
c.325-3462A>G
c.4607A>G (p.Asn1536Ser)
c.4292A>G (p.Asn1431Ser)
c.2189A>G (p.Asn730Ser)
c.4631A>G (p.Asn1544Ser)
c.4622A>G (p.Asn1541Ser)
c.4613A>G (p.Asn1538Ser)
c.2951A>G (p.Asn984Ser)
 gnomAD v4
Xg.108692835A>TCA413855587COL4A5c.4616A>T (p.Asn1539Ile)
c.4598A>T (p.Asn1533Ile)
n.1110A>T
c.14A>T (p.Asn5Ile)
c.325-3462A>T
c.4607A>T (p.Asn1536Ile)
c.4292A>T (p.Asn1431Ile)
c.2189A>T (p.Asn730Ile)
c.4631A>T (p.Asn1544Ile)
c.4622A>T (p.Asn1541Ile)
c.4613A>T (p.Asn1538Ile)
c.2951A>T (p.Asn984Ile)
Xg.108692836T>ACA413855589COL4A5c.4617T>A (p.Asn1539Lys)
c.4599T>A (p.Asn1533Lys)
n.1111T>A
c.15T>A (p.Asn5Lys)
c.325-3461T>A
c.4608T>A (p.Asn1536Lys)
c.4293T>A (p.Asn1431Lys)
c.2190T>A (p.Asn730Lys)
c.4632T>A (p.Asn1544Lys)
c.4623T>A (p.Asn1541Lys)
c.4614T>A (p.Asn1538Lys)
c.2952T>A (p.Asn984Lys)
Xg.108692836T>CCA517925223COL4A5c.4617T>C (p.Asn1539=)
c.4599T>C (p.Asn1533=)
n.1111T>C
c.15T>C (p.Asn5=)
c.325-3461T>C
c.4608T>C (p.Asn1536=)
c.4293T>C (p.Asn1431=)
c.2190T>C (p.Asn730=)
c.4632T>C (p.Asn1544=)
c.4623T>C (p.Asn1541=)
c.4614T>C (p.Asn1538=)
c.2952T>C (p.Asn984=)
 ClinVar dbSNP
Xg.108692836T>GCA413855590COL4A5c.4617T>G (p.Asn1539Lys)
c.4599T>G (p.Asn1533Lys)
n.1111T>G
c.15T>G (p.Asn5Lys)
c.325-3461T>G
c.4608T>G (p.Asn1536Lys)
c.4293T>G (p.Asn1431Lys)
c.2190T>G (p.Asn730Lys)
c.4632T>G (p.Asn1544Lys)
c.4623T>G (p.Asn1541Lys)
c.4614T>G (p.Asn1538Lys)
c.2952T>G (p.Asn984Lys)
Xg.108692836_108692837delinsTGCA2450720868COL4A5c.4617_4618delinsTG (p.Asn1539=)
c.4599_4600delinsTG (p.Asn1533=)
n.1111_1112delinsTG
c.15_16delinsTG (p.Asn5=)
c.325-3461_325-3460delinsTG
c.4608_4609delinsTG (p.Asn1536=)
c.4293_4294delinsTG (p.Asn1431=)
c.2190_2191delinsTG (p.Asn730=)
c.4632_4633delinsTG (p.Asn1544=)
c.4623_4624delinsTG (p.Asn1541=)
c.4614_4615delinsTG (p.Asn1538=)
c.2952_2953delinsTG (p.Asn984=)
Xg.108692837delCA915951314COL4A5c.4618del (p.Asp1540ThrfsTer14)
c.4600del (p.Asp1534ThrfsTer14)
n.1112del
c.16del (p.Asp6ThrfsTer14)
c.325-3460del
c.4609del (p.Asp1537ThrfsTer14)
c.4294del (p.Asp1432ThrfsTer14)
c.2191del (p.Asp731ThrfsTer14)
c.4633del (p.Asp1545ThrfsTer14)
c.4624del (p.Asp1542ThrfsTer14)
c.4615del (p.Asp1539ThrfsTer14)
c.2953del (p.Asp985ThrfsTer14)
 ClinVar dbSNP
Xg.108692837G>ACA413855592COL4A5c.4618G>A (p.Asp1540Asn)
c.4600G>A (p.Asp1534Asn)
n.1112G>A
c.16G>A (p.Asp6Asn)
c.325-3460G>A
c.4609G>A (p.Asp1537Asn)
c.4294G>A (p.Asp1432Asn)
c.2191G>A (p.Asp731Asn)
c.4633G>A (p.Asp1545Asn)
c.4624G>A (p.Asp1542Asn)
c.4615G>A (p.Asp1539Asn)
c.2953G>A (p.Asp985Asn)
Xg.108692837G>CCA413855596COL4A5c.4618G>C (p.Asp1540His)
c.4600G>C (p.Asp1534His)
n.1112G>C
c.16G>C (p.Asp6His)
c.325-3460G>C
c.4609G>C (p.Asp1537His)
c.4294G>C (p.Asp1432His)
c.2191G>C (p.Asp731His)
c.4633G>C (p.Asp1545His)
c.4624G>C (p.Asp1542His)
c.4615G>C (p.Asp1539His)
c.2953G>C (p.Asp985His)
Xg.108692837G=CA2450720869COL4A5c.4618G= (p.Asp1540=)
c.4600G= (p.Asp1534=)
n.1112G=
c.16G= (p.Asp6=)
c.325-3460G=
c.4609G= (p.Asp1537=)
c.4294G= (p.Asp1432=)
c.2191G= (p.Asp731=)
c.4633G= (p.Asp1545=)
c.4624G= (p.Asp1542=)
c.4615G= (p.Asp1539=)
c.2953G= (p.Asp985=)
Xg.108692837G>TCA334061616COL4A5c.4618G>T (p.Asp1540Tyr)
c.4600G>T (p.Asp1534Tyr)
n.1112G>T
c.16G>T (p.Asp6Tyr)
c.325-3460G>T
c.4609G>T (p.Asp1537Tyr)
c.4294G>T (p.Asp1432Tyr)
c.2191G>T (p.Asp731Tyr)
c.4633G>T (p.Asp1545Tyr)
c.4624G>T (p.Asp1542Tyr)
c.4615G>T (p.Asp1539Tyr)
c.2953G>T (p.Asp985Tyr)
 dbSNP
Xg.108692838A>CCA413855598COL4A5c.4619A>C (p.Asp1540Ala)
c.4601A>C (p.Asp1534Ala)
n.1113A>C
c.17A>C (p.Asp6Ala)
c.325-3459A>C
c.4610A>C (p.Asp1537Ala)
c.4295A>C (p.Asp1432Ala)
c.2192A>C (p.Asp731Ala)
c.4634A>C (p.Asp1545Ala)
c.4625A>C (p.Asp1542Ala)
c.4616A>C (p.Asp1539Ala)
c.2954A>C (p.Asp985Ala)
Xg.108692838A>GCA413855600COL4A5c.4619A>G (p.Asp1540Gly)
c.4601A>G (p.Asp1534Gly)
n.1113A>G
c.17A>G (p.Asp6Gly)
c.325-3459A>G
c.4610A>G (p.Asp1537Gly)
c.4295A>G (p.Asp1432Gly)
c.2192A>G (p.Asp731Gly)
c.4634A>G (p.Asp1545Gly)
c.4625A>G (p.Asp1542Gly)
c.4616A>G (p.Asp1539Gly)
c.2954A>G (p.Asp985Gly)
Xg.108692838A>TCA413855602COL4A5c.4619A>T (p.Asp1540Val)
c.4601A>T (p.Asp1534Val)
n.1113A>T
c.17A>T (p.Asp6Val)
c.325-3459A>T
c.4610A>T (p.Asp1537Val)
c.4295A>T (p.Asp1432Val)
c.2192A>T (p.Asp731Val)
c.4634A>T (p.Asp1545Val)
c.4625A>T (p.Asp1542Val)
c.4616A>T (p.Asp1539Val)
c.2954A>T (p.Asp985Val)
Xg.108692839delCA2695235244COL4A5c.4620del (p.Tyr1541IlefsTer13)
c.4602del (p.Tyr1535IlefsTer13)
n.1114del
c.18del (p.Tyr7IlefsTer13)
c.325-3458del
c.4611del (p.Tyr1538IlefsTer13)
c.4296del (p.Tyr1433IlefsTer13)
c.2193del (p.Tyr732IlefsTer13)
c.4635del (p.Tyr1546IlefsTer13)
c.4626del (p.Tyr1543IlefsTer13)
c.4617del (p.Tyr1540IlefsTer13)
c.2955del (p.Tyr986IlefsTer13)
Xg.108692839C>ACA334061620COL4A5c.4620C>A (p.Asp1540Glu)
c.4602C>A (p.Asp1534Glu)
n.1114C>A
c.18C>A (p.Asp6Glu)
c.325-3458C>A
c.4611C>A (p.Asp1537Glu)
c.4296C>A (p.Asp1432Glu)
c.2193C>A (p.Asp731Glu)
c.4635C>A (p.Asp1545Glu)
c.4626C>A (p.Asp1542Glu)
c.4617C>A (p.Asp1539Glu)
c.2955C>A (p.Asp985Glu)
 dbSNP
Xg.108692839C=CA2450720870COL4A5c.4620C= (p.Asp1540=)
c.4602C= (p.Asp1534=)
n.1114C=
c.18C= (p.Asp6=)
c.325-3458C=
c.4611C= (p.Asp1537=)
c.4296C= (p.Asp1432=)
c.2193C= (p.Asp731=)
c.4635C= (p.Asp1545=)
c.4626C= (p.Asp1542=)
c.4617C= (p.Asp1539=)
c.2955C= (p.Asp985=)
Xg.108692839C>GCA413855606COL4A5c.4620C>G (p.Asp1540Glu)
c.4602C>G (p.Asp1534Glu)
n.1114C>G
c.18C>G (p.Asp6Glu)
c.325-3458C>G
c.4611C>G (p.Asp1537Glu)
c.4296C>G (p.Asp1432Glu)
c.2193C>G (p.Asp731Glu)
c.4635C>G (p.Asp1545Glu)
c.4626C>G (p.Asp1542Glu)
c.4617C>G (p.Asp1539Glu)
c.2955C>G (p.Asp985Glu)
Xg.108692839C>TCA517925228COL4A5c.4620C>T (p.Asp1540=)
c.4602C>T (p.Asp1534=)
n.1114C>T
c.18C>T (p.Asp6=)
c.325-3458C>T
c.4611C>T (p.Asp1537=)
c.4296C>T (p.Asp1432=)
c.2193C>T (p.Asp731=)
c.4635C>T (p.Asp1545=)
c.4626C>T (p.Asp1542=)
c.4617C>T (p.Asp1539=)
c.2955C>T (p.Asp985=)
 gnomAD v4
Xg.108692840T>ACA413855608COL4A5c.4621T>A (p.Tyr1541Asn)
c.4603T>A (p.Tyr1535Asn)
n.1115T>A
c.19T>A (p.Tyr7Asn)
c.325-3457T>A
c.4612T>A (p.Tyr1538Asn)
c.4297T>A (p.Tyr1433Asn)
c.2194T>A (p.Tyr732Asn)
c.4636T>A (p.Tyr1546Asn)
c.4627T>A (p.Tyr1543Asn)
c.4618T>A (p.Tyr1540Asn)
c.2956T>A (p.Tyr986Asn)
 gnomAD v4
Xg.108692840T>CCA413855610COL4A5c.4621T>C (p.Tyr1541His)
c.4603T>C (p.Tyr1535His)
n.1115T>C
c.19T>C (p.Tyr7His)
c.325-3457T>C
c.4612T>C (p.Tyr1538His)
c.4297T>C (p.Tyr1433His)
c.2194T>C (p.Tyr732His)
c.4636T>C (p.Tyr1546His)
c.4627T>C (p.Tyr1543His)
c.4618T>C (p.Tyr1540His)
c.2956T>C (p.Tyr986His)
 dbSNP gnomAD v4
Xg.108692840T>GCA413855612COL4A5c.4621T>G (p.Tyr1541Asp)
c.4603T>G (p.Tyr1535Asp)
n.1115T>G
c.19T>G (p.Tyr7Asp)
c.325-3457T>G
c.4612T>G (p.Tyr1538Asp)
c.4297T>G (p.Tyr1433Asp)
c.2194T>G (p.Tyr732Asp)
c.4636T>G (p.Tyr1546Asp)
c.4627T>G (p.Tyr1543Asp)
c.4618T>G (p.Tyr1540Asp)
c.2956T>G (p.Tyr986Asp)
Xg.108692840T=CA2450720871COL4A5c.4621T= (p.Tyr1541=)
c.4603T= (p.Tyr1535=)
n.1115T=
c.19T= (p.Tyr7=)
c.325-3457T=
c.4612T= (p.Tyr1538=)
c.4297T= (p.Tyr1433=)
c.2194T= (p.Tyr732=)
c.4636T= (p.Tyr1546=)
c.4627T= (p.Tyr1543=)
c.4618T= (p.Tyr1540=)
c.2956T= (p.Tyr986=)
Xg.108692841A>CCA413855613COL4A5c.4622A>C (p.Tyr1541Ser)
c.4604A>C (p.Tyr1535Ser)
n.1116A>C
c.20A>C (p.Tyr7Ser)
c.325-3456A>C
c.4613A>C (p.Tyr1538Ser)
c.4298A>C (p.Tyr1433Ser)
c.2195A>C (p.Tyr732Ser)
c.4637A>C (p.Tyr1546Ser)
c.4628A>C (p.Tyr1543Ser)
c.4619A>C (p.Tyr1540Ser)
c.2957A>C (p.Tyr986Ser)
Xg.108692841A>GCA413855614COL4A5c.4622A>G (p.Tyr1541Cys)
c.4604A>G (p.Tyr1535Cys)
n.1116A>G
c.20A>G (p.Tyr7Cys)
c.325-3456A>G
c.4613A>G (p.Tyr1538Cys)
c.4298A>G (p.Tyr1433Cys)
c.2195A>G (p.Tyr732Cys)
c.4637A>G (p.Tyr1546Cys)
c.4628A>G (p.Tyr1543Cys)
c.4619A>G (p.Tyr1540Cys)
c.2957A>G (p.Tyr986Cys)
 dbSNP gnomAD v4
Xg.108692841A>TCA413855615COL4A5c.4622A>T (p.Tyr1541Phe)
c.4604A>T (p.Tyr1535Phe)
n.1116A>T
c.20A>T (p.Tyr7Phe)
c.325-3456A>T
c.4613A>T (p.Tyr1538Phe)
c.4298A>T (p.Tyr1433Phe)
c.2195A>T (p.Tyr732Phe)
c.4637A>T (p.Tyr1546Phe)
c.4628A>T (p.Tyr1543Phe)
c.4619A>T (p.Tyr1540Phe)
c.2957A>T (p.Tyr986Phe)
Xg.108692842T>ACA413855617COL4A5c.4623T>A (p.Tyr1541Ter)
c.4605T>A (p.Tyr1535Ter)
n.1117T>A
c.21T>A (p.Tyr7Ter)
c.325-3455T>A
c.4614T>A (p.Tyr1538Ter)
c.4299T>A (p.Tyr1433Ter)
c.2196T>A (p.Tyr732Ter)
c.4638T>A (p.Tyr1546Ter)
c.4629T>A (p.Tyr1543Ter)
c.4620T>A (p.Tyr1540Ter)
c.2958T>A (p.Tyr986Ter)
Xg.108692842T>CCA517925231COL4A5c.4623T>C (p.Tyr1541=)
c.4605T>C (p.Tyr1535=)
n.1117T>C
c.21T>C (p.Tyr7=)
c.325-3455T>C
c.4614T>C (p.Tyr1538=)
c.4299T>C (p.Tyr1433=)
c.2196T>C (p.Tyr732=)
c.4638T>C (p.Tyr1546=)
c.4629T>C (p.Tyr1543=)
c.4620T>C (p.Tyr1540=)
c.2958T>C (p.Tyr986=)
Xg.108692842T>GCA413855616COL4A5c.4623T>G (p.Tyr1541Ter)
c.4605T>G (p.Tyr1535Ter)
n.1117T>G
c.21T>G (p.Tyr7Ter)
c.325-3455T>G
c.4614T>G (p.Tyr1538Ter)
c.4299T>G (p.Tyr1433Ter)
c.2196T>G (p.Tyr732Ter)
c.4638T>G (p.Tyr1546Ter)
c.4629T>G (p.Tyr1543Ter)
c.4620T>G (p.Tyr1540Ter)
c.2958T>G (p.Tyr986Ter)
 ClinVar
Xg.108692842_108692843insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGTCA2822895054COL4A5c.4623_4624insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1542ArgfsTer53)
c.4605_4606insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1536ArgfsTer53)
n.1117_1118insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT
c.21_22insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser8ArgfsTer53)
c.325-3455_325-3454insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT
c.4614_4615insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1539ArgfsTer53)
c.4299_4300insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1434ArgfsTer53)
c.2196_2197insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser733ArgfsTer53)
c.4638_4639insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1547ArgfsTer53)
c.4629_4630insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1544ArgfsTer53)
c.4620_4621insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser1541ArgfsTer53)
c.2958_2959insCGGCCGCCTTTCGCGCAGCCACTGCAATCGCCACAGGGCGCACACCGGGAAATTGCGCATTGGCATAATGAATTGCGGT (p.Ser987ArgfsTer53)
Xg.108692843T>ACA413855618COL4A5c.4624T>A (p.Ser1542Thr)
c.4606T>A (p.Ser1536Thr)
n.1118T>A
c.22T>A (p.Ser8Thr)
c.325-3454T>A
c.4615T>A (p.Ser1539Thr)
c.4300T>A (p.Ser1434Thr)
c.2197T>A (p.Ser733Thr)
c.4639T>A (p.Ser1547Thr)
c.4630T>A (p.Ser1544Thr)
c.4621T>A (p.Ser1541Thr)
c.2959T>A (p.Ser987Thr)
Xg.108692843T>CCA413855619COL4A5c.4624T>C (p.Ser1542Pro)
c.4606T>C (p.Ser1536Pro)
n.1118T>C
c.22T>C (p.Ser8Pro)
c.325-3454T>C
c.4615T>C (p.Ser1539Pro)
c.4300T>C (p.Ser1434Pro)
c.2197T>C (p.Ser733Pro)
c.4639T>C (p.Ser1547Pro)
c.4630T>C (p.Ser1544Pro)
c.4621T>C (p.Ser1541Pro)
c.2959T>C (p.Ser987Pro)
Xg.108692843T>GCA413855620COL4A5c.4624T>G (p.Ser1542Ala)
c.4606T>G (p.Ser1536Ala)
n.1118T>G
c.22T>G (p.Ser8Ala)
c.325-3454T>G
c.4615T>G (p.Ser1539Ala)
c.4300T>G (p.Ser1434Ala)
c.2197T>G (p.Ser733Ala)
c.4639T>G (p.Ser1547Ala)
c.4630T>G (p.Ser1544Ala)
c.4621T>G (p.Ser1541Ala)
c.2959T>G (p.Ser987Ala)
Xg.108692844C>ACA413855621COL4A5c.4625C>A (p.Ser1542Tyr)
c.4607C>A (p.Ser1536Tyr)
n.1119C>A
c.23C>A (p.Ser8Tyr)
c.325-3453C>A
c.4616C>A (p.Ser1539Tyr)
c.4301C>A (p.Ser1434Tyr)
c.2198C>A (p.Ser733Tyr)
c.4640C>A (p.Ser1547Tyr)
c.4631C>A (p.Ser1544Tyr)
c.4622C>A (p.Ser1541Tyr)
c.2960C>A (p.Ser987Tyr)
Xg.108692844C>GCA413855622COL4A5c.4625C>G (p.Ser1542Cys)
c.4607C>G (p.Ser1536Cys)
n.1119C>G
c.23C>G (p.Ser8Cys)
c.325-3453C>G
c.4616C>G (p.Ser1539Cys)
c.4301C>G (p.Ser1434Cys)
c.2198C>G (p.Ser733Cys)
c.4640C>G (p.Ser1547Cys)
c.4631C>G (p.Ser1544Cys)
c.4622C>G (p.Ser1541Cys)
c.2960C>G (p.Ser987Cys)
Xg.108692844C>TCA413855623COL4A5c.4625C>T (p.Ser1542Phe)
c.4607C>T (p.Ser1536Phe)
n.1119C>T
c.23C>T (p.Ser8Phe)
c.325-3453C>T
c.4616C>T (p.Ser1539Phe)
c.4301C>T (p.Ser1434Phe)
c.2198C>T (p.Ser733Phe)
c.4640C>T (p.Ser1547Phe)
c.4631C>T (p.Ser1544Phe)
c.4622C>T (p.Ser1541Phe)
c.2960C>T (p.Ser987Phe)
Xg.108692845T>ACA517925237COL4A5c.4626T>A (p.Ser1542=)
c.4608T>A (p.Ser1536=)
n.1120T>A
c.24T>A (p.Ser8=)
c.325-3452T>A
c.4617T>A (p.Ser1539=)
c.4302T>A (p.Ser1434=)
c.2199T>A (p.Ser733=)
c.4641T>A (p.Ser1547=)
c.4632T>A (p.Ser1544=)
c.4623T>A (p.Ser1541=)
c.2961T>A (p.Ser987=)
Xg.108692845T>CCA517925240COL4A5c.4626T>C (p.Ser1542=)
c.4608T>C (p.Ser1536=)
n.1120T>C
c.24T>C (p.Ser8=)
c.325-3452T>C
c.4617T>C (p.Ser1539=)
c.4302T>C (p.Ser1434=)
c.2199T>C (p.Ser733=)
c.4641T>C (p.Ser1547=)
c.4632T>C (p.Ser1544=)
c.4623T>C (p.Ser1541=)
c.2961T>C (p.Ser987=)
Xg.108692845T>GCA517925242COL4A5c.4626T>G (p.Ser1542=)
c.4608T>G (p.Ser1536=)
n.1120T>G
c.24T>G (p.Ser8=)
c.325-3452T>G
c.4617T>G (p.Ser1539=)
c.4302T>G (p.Ser1434=)
c.2199T>G (p.Ser733=)
c.4641T>G (p.Ser1547=)
c.4632T>G (p.Ser1544=)
c.4623T>G (p.Ser1541=)
c.2961T>G (p.Ser987=)
Xg.108692846T>ACA413855624COL4A5c.4627T>A (p.Tyr1543Asn)
c.4609T>A (p.Tyr1537Asn)
n.1121T>A
c.25T>A (p.Tyr9Asn)
c.325-3451T>A
c.4618T>A (p.Tyr1540Asn)
c.4303T>A (p.Tyr1435Asn)
c.2200T>A (p.Tyr734Asn)
c.4642T>A (p.Tyr1548Asn)
c.4633T>A (p.Tyr1545Asn)
c.4624T>A (p.Tyr1542Asn)
c.2962T>A (p.Tyr988Asn)
Xg.108692846T>CCA334061629COL4A5c.4627T>C (p.Tyr1543His)
c.4609T>C (p.Tyr1537His)
n.1121T>C
c.25T>C (p.Tyr9His)
c.325-3451T>C
c.4618T>C (p.Tyr1540His)
c.4303T>C (p.Tyr1435His)
c.2200T>C (p.Tyr734His)
c.4642T>C (p.Tyr1548His)
c.4633T>C (p.Tyr1545His)
c.4624T>C (p.Tyr1542His)
c.2962T>C (p.Tyr988His)
 dbSNP
Xg.108692846T>GCA413855625COL4A5c.4627T>G (p.Tyr1543Asp)
c.4609T>G (p.Tyr1537Asp)
n.1121T>G
c.25T>G (p.Tyr9Asp)
c.325-3451T>G
c.4618T>G (p.Tyr1540Asp)
c.4303T>G (p.Tyr1435Asp)
c.2200T>G (p.Tyr734Asp)
c.4642T>G (p.Tyr1548Asp)
c.4633T>G (p.Tyr1545Asp)
c.4624T>G (p.Tyr1542Asp)
c.2962T>G (p.Tyr988Asp)
Xg.108692846T=CA2450720872COL4A5c.4627T= (p.Tyr1543=)
c.4609T= (p.Tyr1537=)
n.1121T=
c.25T= (p.Tyr9=)
c.325-3451T=
c.4618T= (p.Tyr1540=)
c.4303T= (p.Tyr1435=)
c.2200T= (p.Tyr734=)
c.4642T= (p.Tyr1548=)
c.4633T= (p.Tyr1545=)
c.4624T= (p.Tyr1542=)
c.2962T= (p.Tyr988=)
Xg.108692847A>CCA413855626COL4A5c.4628A>C (p.Tyr1543Ser)
c.4610A>C (p.Tyr1537Ser)
n.1122A>C
c.26A>C (p.Tyr9Ser)
c.325-3450A>C
c.4619A>C (p.Tyr1540Ser)
c.4304A>C (p.Tyr1435Ser)
c.2201A>C (p.Tyr734Ser)
c.4643A>C (p.Tyr1548Ser)
c.4634A>C (p.Tyr1545Ser)
c.4625A>C (p.Tyr1542Ser)
c.2963A>C (p.Tyr988Ser)
Xg.108692847A>GCA413855627COL4A5c.4628A>G (p.Tyr1543Cys)
c.4610A>G (p.Tyr1537Cys)
n.1122A>G
c.26A>G (p.Tyr9Cys)
c.325-3450A>G
c.4619A>G (p.Tyr1540Cys)
c.4304A>G (p.Tyr1435Cys)
c.2201A>G (p.Tyr734Cys)
c.4643A>G (p.Tyr1548Cys)
c.4634A>G (p.Tyr1545Cys)
c.4625A>G (p.Tyr1542Cys)
c.2963A>G (p.Tyr988Cys)
Xg.108692847A>TCA413855628COL4A5c.4628A>T (p.Tyr1543Phe)
c.4610A>T (p.Tyr1537Phe)
n.1122A>T
c.26A>T (p.Tyr9Phe)
c.325-3450A>T
c.4619A>T (p.Tyr1540Phe)
c.4304A>T (p.Tyr1435Phe)
c.2201A>T (p.Tyr734Phe)
c.4643A>T (p.Tyr1548Phe)
c.4634A>T (p.Tyr1545Phe)
c.4625A>T (p.Tyr1542Phe)
c.2963A>T (p.Tyr988Phe)
Xg.108692847dupCA2499226312COL4A5c.4628dup (p.Tyr1543Ter)
c.4610dup (p.Tyr1537Ter)
n.1122dup
c.26dup (p.Tyr9Ter)
c.325-3450dup
c.4619dup (p.Tyr1540Ter)
c.4304dup (p.Tyr1435Ter)
c.2201dup (p.Tyr734Ter)
c.4643dup (p.Tyr1548Ter)
c.4634dup (p.Tyr1545Ter)
c.4625dup (p.Tyr1542Ter)
c.2963dup (p.Tyr988Ter)
 ClinVar dbSNP
Xg.108692848C>ACA413855629COL4A5c.4629C>A (p.Tyr1543Ter)
c.4611C>A (p.Tyr1537Ter)
n.1123C>A
c.27C>A (p.Tyr9Ter)
c.325-3449C>A
c.4620C>A (p.Tyr1540Ter)
c.4305C>A (p.Tyr1435Ter)
c.2202C>A (p.Tyr734Ter)
c.4644C>A (p.Tyr1548Ter)
c.4635C>A (p.Tyr1545Ter)
c.4626C>A (p.Tyr1542Ter)
c.2964C>A (p.Tyr988Ter)
Xg.108692848C=CA2450720873COL4A5c.4629C= (p.Tyr1543=)
c.4611C= (p.Tyr1537=)
n.1123C=
c.27C= (p.Tyr9=)
c.325-3449C=
c.4620C= (p.Tyr1540=)
c.4305C= (p.Tyr1435=)
c.2202C= (p.Tyr734=)
c.4644C= (p.Tyr1548=)
c.4635C= (p.Tyr1545=)
c.4626C= (p.Tyr1542=)
c.2964C= (p.Tyr988=)
Xg.108692848C>GCA413855630COL4A5c.4629C>G (p.Tyr1543Ter)
c.4611C>G (p.Tyr1537Ter)
n.1123C>G
c.27C>G (p.Tyr9Ter)
c.325-3449C>G
c.4620C>G (p.Tyr1540Ter)
c.4305C>G (p.Tyr1435Ter)
c.2202C>G (p.Tyr734Ter)
c.4644C>G (p.Tyr1548Ter)
c.4635C>G (p.Tyr1545Ter)
c.4626C>G (p.Tyr1542Ter)
c.2964C>G (p.Tyr988Ter)
Xg.108692848C>TCA10489390COL4A5c.4629C>T (p.Tyr1543=)
c.4611C>T (p.Tyr1537=)
n.1123C>T
c.27C>T (p.Tyr9=)
c.325-3449C>T
c.4620C>T (p.Tyr1540=)
c.4305C>T (p.Tyr1435=)
c.2202C>T (p.Tyr734=)
c.4644C>T (p.Tyr1548=)
c.4635C>T (p.Tyr1545=)
c.4626C>T (p.Tyr1542=)
c.2964C>T (p.Tyr988=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108692849T>ACA413855631COL4A5c.4630T>A (p.Trp1544Arg)
c.4612T>A (p.Trp1538Arg)
n.1124T>A
c.28T>A (p.Trp10Arg)
c.325-3448T>A
c.4621T>A (p.Trp1541Arg)
c.4306T>A (p.Trp1436Arg)
c.2203T>A (p.Trp735Arg)
c.4645T>A (p.Trp1549Arg)
c.4636T>A (p.Trp1546Arg)
c.4627T>A (p.Trp1543Arg)
c.2965T>A (p.Trp989Arg)
Xg.108692849T>CCA413855632COL4A5c.4630T>C (p.Trp1544Arg)
c.4612T>C (p.Trp1538Arg)
n.1124T>C
c.28T>C (p.Trp10Arg)
c.325-3448T>C
c.4621T>C (p.Trp1541Arg)
c.4306T>C (p.Trp1436Arg)
c.2203T>C (p.Trp735Arg)
c.4645T>C (p.Trp1549Arg)
c.4636T>C (p.Trp1546Arg)
c.4627T>C (p.Trp1543Arg)
c.2965T>C (p.Trp989Arg)
Xg.108692849T>GCA413855633COL4A5c.4630T>G (p.Trp1544Gly)
c.4612T>G (p.Trp1538Gly)
n.1124T>G
c.28T>G (p.Trp10Gly)
c.325-3448T>G
c.4621T>G (p.Trp1541Gly)
c.4306T>G (p.Trp1436Gly)
c.2203T>G (p.Trp735Gly)
c.4645T>G (p.Trp1549Gly)
c.4636T>G (p.Trp1546Gly)
c.4627T>G (p.Trp1543Gly)
c.2965T>G (p.Trp989Gly)
Xg.108692850G>ACA334061644COL4A5c.4631G>A (p.Trp1544Ter)
c.4613G>A (p.Trp1538Ter)
n.1125G>A
c.29G>A (p.Trp10Ter)
c.325-3447G>A
c.4622G>A (p.Trp1541Ter)
c.4307G>A (p.Trp1436Ter)
c.2204G>A (p.Trp735Ter)
c.4646G>A (p.Trp1549Ter)
c.4637G>A (p.Trp1546Ter)
c.4628G>A (p.Trp1543Ter)
c.2966G>A (p.Trp989Ter)
 ClinVar dbSNP
Xg.108692850G>CCA259071COL4A5c.4631G>C (p.Trp1544Ser)
c.4613G>C (p.Trp1538Ser)
n.1125G>C
c.29G>C (p.Trp10Ser)
c.325-3447G>C
c.4622G>C (p.Trp1541Ser)
c.4307G>C (p.Trp1436Ser)
c.2204G>C (p.Trp735Ser)
c.4646G>C (p.Trp1549Ser)
c.4637G>C (p.Trp1546Ser)
c.4628G>C (p.Trp1543Ser)
c.2966G>C (p.Trp989Ser)
 ClinVar dbSNP
Xg.108692850G=CA2450720874COL4A5c.4631G= (p.Trp1544=)
c.4613G= (p.Trp1538=)
n.1125G=
c.29G= (p.Trp10=)
c.325-3447G=
c.4622G= (p.Trp1541=)
c.4307G= (p.Trp1436=)
c.2204G= (p.Trp735=)
c.4646G= (p.Trp1549=)
c.4637G= (p.Trp1546=)
c.4628G= (p.Trp1543=)
c.2966G= (p.Trp989=)
Xg.108692850G>TCA413855634COL4A5c.4631G>T (p.Trp1544Leu)
c.4613G>T (p.Trp1538Leu)
n.1125G>T
c.29G>T (p.Trp10Leu)
c.325-3447G>T
c.4622G>T (p.Trp1541Leu)
c.4307G>T (p.Trp1436Leu)
c.2204G>T (p.Trp735Leu)
c.4646G>T (p.Trp1549Leu)
c.4637G>T (p.Trp1546Leu)
c.4628G>T (p.Trp1543Leu)
c.2966G>T (p.Trp989Leu)

Number of alleles fetched