Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108681788A=CA2450717223COL4A5c.4116A= (p.Gly1372=)
c.4098A= (p.Gly1366=)
n.610A=
n.519A=
c.4107A= (p.Gly1369=)
c.3792A= (p.Gly1264=)
c.1689A= (p.Gly563=)
c.4131A= (p.Gly1377=)
c.4122A= (p.Gly1374=)
c.4113A= (p.Gly1371=)
c.2451A= (p.Gly817=)
Xg.108681788A>CCA10489294COL4A5c.4116A>C (p.Gly1372=)
c.4098A>C (p.Gly1366=)
n.610A>C
n.519A>C
c.4107A>C (p.Gly1369=)
c.3792A>C (p.Gly1264=)
c.1689A>C (p.Gly563=)
c.4131A>C (p.Gly1377=)
c.4122A>C (p.Gly1374=)
c.4113A>C (p.Gly1371=)
c.2451A>C (p.Gly817=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108681788A>GCA517923811COL4A5c.4116A>G (p.Gly1372=)
c.4098A>G (p.Gly1366=)
n.610A>G
n.519A>G
c.4107A>G (p.Gly1369=)
c.3792A>G (p.Gly1264=)
c.1689A>G (p.Gly563=)
c.4131A>G (p.Gly1377=)
c.4122A>G (p.Gly1374=)
c.4113A>G (p.Gly1371=)
c.2451A>G (p.Gly817=)
 gnomAD v4
Xg.108681788A>TCA517923810COL4A5c.4116A>T (p.Gly1372=)
c.4098A>T (p.Gly1366=)
n.610A>T
n.519A>T
c.4107A>T (p.Gly1369=)
c.3792A>T (p.Gly1264=)
c.1689A>T (p.Gly563=)
c.4131A>T (p.Gly1377=)
c.4122A>T (p.Gly1374=)
c.4113A>T (p.Gly1371=)
c.2451A>T (p.Gly817=)
Xg.108681788_108681796delinsACAGAGTATCA2450717222COL4A5c.4116_4124delinsACAGAGTAT (p.Gly1372=)
c.4098_4106delinsACAGAGTAT (p.Gly1366=)
n.610_618delinsACAGAGTAT
n.519_527delinsACAGAGTAT
c.4107_4115delinsACAGAGTAT (p.Gly1369=)
c.3792_3800delinsACAGAGTAT (p.Gly1264=)
c.1689_1697delinsACAGAGTAT (p.Gly563=)
c.4131_4139delinsACAGAGTAT (p.Gly1377=)
c.4122_4130delinsACAGAGTAT (p.Gly1374=)
c.4113_4121delinsACAGAGTAT (p.Gly1371=)
c.2451_2459delinsACAGAGTAT (p.Gly817=)
Xg.108681789C>ACA10489295COL4A5c.4117C>A (p.Gln1373Lys)
c.4099C>A (p.Gln1367Lys)
n.611C>A
n.520C>A
c.4108C>A (p.Gln1370Lys)
c.3793C>A (p.Gln1265Lys)
c.1690C>A (p.Gln564Lys)
c.4132C>A (p.Gln1378Lys)
c.4123C>A (p.Gln1375Lys)
c.4114C>A (p.Gln1372Lys)
c.2452C>A (p.Gln818Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108681789C=CA2450717225COL4A5c.4117C= (p.Gln1373=)
c.4099C= (p.Gln1367=)
n.611C=
n.520C=
c.4108C= (p.Gln1370=)
c.3793C= (p.Gln1265=)
c.1690C= (p.Gln564=)
c.4132C= (p.Gln1378=)
c.4123C= (p.Gln1375=)
c.4114C= (p.Gln1372=)
c.2452C= (p.Gln818=)
Xg.108681789C>GCA413851978COL4A5c.4117C>G (p.Gln1373Glu)
c.4099C>G (p.Gln1367Glu)
n.611C>G
n.520C>G
c.4108C>G (p.Gln1370Glu)
c.3793C>G (p.Gln1265Glu)
c.1690C>G (p.Gln564Glu)
c.4132C>G (p.Gln1378Glu)
c.4123C>G (p.Gln1375Glu)
c.4114C>G (p.Gln1372Glu)
c.2452C>G (p.Gln818Glu)
Xg.108681789C>TCA413851977COL4A5c.4117C>T (p.Gln1373Ter)
c.4099C>T (p.Gln1367Ter)
n.611C>T
n.520C>T
c.4108C>T (p.Gln1370Ter)
c.3793C>T (p.Gln1265Ter)
c.1690C>T (p.Gln564Ter)
c.4132C>T (p.Gln1378Ter)
c.4123C>T (p.Gln1375Ter)
c.4114C>T (p.Gln1372Ter)
c.2452C>T (p.Gln818Ter)
Xg.108681789_108681791delinsCAGCA2450717224COL4A5c.4117_4119delinsCAG (p.Gln1373=)
c.4099_4101delinsCAG (p.Gln1367=)
n.611_613delinsCAG
n.520_522delinsCAG
c.4108_4110delinsCAG (p.Gln1370=)
c.3793_3795delinsCAG (p.Gln1265=)
c.1690_1692delinsCAG (p.Gln564=)
c.4132_4134delinsCAG (p.Gln1378=)
c.4123_4125delinsCAG (p.Gln1375=)
c.4114_4116delinsCAG (p.Gln1372=)
c.2452_2454delinsCAG (p.Gln818=)
Xg.108681791_108681798delCA1139667748COL4A5c.4119_4126del (p.Gln1373HisfsTer3)
c.4101_4108del (p.Gln1367HisfsTer3)
n.613_620del
n.522_529del
c.4110_4117del (p.Gln1370HisfsTer3)
c.3795_3802del (p.Gln1265HisfsTer3)
c.1692_1699del (p.Gln564HisfsTer3)
c.4134_4141del (p.Gln1378HisfsTer3)
c.4125_4132del (p.Gln1375HisfsTer3)
c.4116_4123del (p.Gln1372HisfsTer3)
c.2454_2461del (p.Gln818HisfsTer3)
 ClinVar dbSNP
Xg.108681790A>CCA413851985COL4A5c.4118A>C (p.Gln1373Pro)
c.4100A>C (p.Gln1367Pro)
n.612A>C
n.521A>C
c.4109A>C (p.Gln1370Pro)
c.3794A>C (p.Gln1265Pro)
c.1691A>C (p.Gln564Pro)
c.4133A>C (p.Gln1378Pro)
c.4124A>C (p.Gln1375Pro)
c.4115A>C (p.Gln1372Pro)
c.2453A>C (p.Gln818Pro)
Xg.108681790A>GCA413851988COL4A5c.4118A>G (p.Gln1373Arg)
c.4100A>G (p.Gln1367Arg)
n.612A>G
n.521A>G
c.4109A>G (p.Gln1370Arg)
c.3794A>G (p.Gln1265Arg)
c.1691A>G (p.Gln564Arg)
c.4133A>G (p.Gln1378Arg)
c.4124A>G (p.Gln1375Arg)
c.4115A>G (p.Gln1372Arg)
c.2453A>G (p.Gln818Arg)
Xg.108681790A>TCA413851990COL4A5c.4118A>T (p.Gln1373Leu)
c.4100A>T (p.Gln1367Leu)
n.612A>T
n.521A>T
c.4109A>T (p.Gln1370Leu)
c.3794A>T (p.Gln1265Leu)
c.1691A>T (p.Gln564Leu)
c.4133A>T (p.Gln1378Leu)
c.4124A>T (p.Gln1375Leu)
c.4115A>T (p.Gln1372Leu)
c.2453A>T (p.Gln818Leu)
Xg.108681792_108681793delCA258986COL4A5c.4120_4121del (p.Ser1374TyrfsTer4)
c.4102_4103del (p.Ser1368TyrfsTer4)
n.614_615del
n.523_524del
c.4111_4112del (p.Ser1371TyrfsTer4)
c.3796_3797del (p.Ser1266TyrfsTer4)
c.1693_1694del (p.Ser565TyrfsTer4)
c.4135_4136del (p.Ser1379TyrfsTer4)
c.4126_4127del (p.Ser1376TyrfsTer4)
c.4117_4118del (p.Ser1373TyrfsTer4)
c.2455_2456del (p.Ser819TyrfsTer4)
 dbSNP
Xg.108681791_108681795dupCA2695235230COL4A5c.4119_4123dup (p.Ile1375ArgfsTer4)
c.4101_4105dup (p.Ile1369ArgfsTer4)
n.613_617dup
n.522_526dup
c.4110_4114dup (p.Ile1372ArgfsTer4)
c.3795_3799dup (p.Ile1267ArgfsTer4)
c.1692_1696dup (p.Ile566ArgfsTer4)
c.4134_4138dup (p.Ile1380ArgfsTer4)
c.4125_4129dup (p.Ile1377ArgfsTer4)
c.4116_4120dup (p.Ile1374ArgfsTer4)
c.2454_2458dup (p.Ile820ArgfsTer4)
Xg.108681791G>ACA517923812COL4A5c.4119G>A (p.Gln1373=)
c.4101G>A (p.Gln1367=)
n.613G>A
n.522G>A
c.4110G>A (p.Gln1370=)
c.3795G>A (p.Gln1265=)
c.1692G>A (p.Gln564=)
c.4134G>A (p.Gln1378=)
c.4125G>A (p.Gln1375=)
c.4116G>A (p.Gln1372=)
c.2454G>A (p.Gln818=)
Xg.108681791G>CCA413851994COL4A5c.4119G>C (p.Gln1373His)
c.4101G>C (p.Gln1367His)
n.613G>C
n.522G>C
c.4110G>C (p.Gln1370His)
c.3795G>C (p.Gln1265His)
c.1692G>C (p.Gln564His)
c.4134G>C (p.Gln1378His)
c.4125G>C (p.Gln1375His)
c.4116G>C (p.Gln1372His)
c.2454G>C (p.Gln818His)
Xg.108681791G>TCA413851995COL4A5c.4119G>T (p.Gln1373His)
c.4101G>T (p.Gln1367His)
n.613G>T
n.522G>T
c.4110G>T (p.Gln1370His)
c.3795G>T (p.Gln1265His)
c.1692G>T (p.Gln564His)
c.4134G>T (p.Gln1378His)
c.4125G>T (p.Gln1375His)
c.4116G>T (p.Gln1372His)
c.2454G>T (p.Gln818His)
Xg.108681792A>CCA413851999COL4A5c.4120A>C (p.Ser1374Arg)
c.4102A>C (p.Ser1368Arg)
n.614A>C
n.523A>C
c.4111A>C (p.Ser1371Arg)
c.3796A>C (p.Ser1266Arg)
c.1693A>C (p.Ser565Arg)
c.4135A>C (p.Ser1379Arg)
c.4126A>C (p.Ser1376Arg)
c.4117A>C (p.Ser1373Arg)
c.2455A>C (p.Ser819Arg)
Xg.108681792A>GCA413851997COL4A5c.4120A>G (p.Ser1374Gly)
c.4102A>G (p.Ser1368Gly)
n.614A>G
n.523A>G
c.4111A>G (p.Ser1371Gly)
c.3796A>G (p.Ser1266Gly)
c.1693A>G (p.Ser565Gly)
c.4135A>G (p.Ser1379Gly)
c.4126A>G (p.Ser1376Gly)
c.4117A>G (p.Ser1373Gly)
c.2455A>G (p.Ser819Gly)
Xg.108681792A>TCA413851996COL4A5c.4120A>T (p.Ser1374Cys)
c.4102A>T (p.Ser1368Cys)
n.614A>T
n.523A>T
c.4111A>T (p.Ser1371Cys)
c.3796A>T (p.Ser1266Cys)
c.1693A>T (p.Ser565Cys)
c.4135A>T (p.Ser1379Cys)
c.4126A>T (p.Ser1376Cys)
c.4117A>T (p.Ser1373Cys)
c.2455A>T (p.Ser819Cys)
Xg.108681793G>ACA413852001COL4A5c.4121G>A (p.Ser1374Asn)
c.4103G>A (p.Ser1368Asn)
n.615G>A
n.524G>A
c.4112G>A (p.Ser1371Asn)
c.3797G>A (p.Ser1266Asn)
c.1694G>A (p.Ser565Asn)
c.4136G>A (p.Ser1379Asn)
c.4127G>A (p.Ser1376Asn)
c.4118G>A (p.Ser1373Asn)
c.2456G>A (p.Ser819Asn)
Xg.108681793G>CCA413852002COL4A5c.4121G>C (p.Ser1374Thr)
c.4103G>C (p.Ser1368Thr)
n.615G>C
n.524G>C
c.4112G>C (p.Ser1371Thr)
c.3797G>C (p.Ser1266Thr)
c.1694G>C (p.Ser565Thr)
c.4136G>C (p.Ser1379Thr)
c.4127G>C (p.Ser1376Thr)
c.4118G>C (p.Ser1373Thr)
c.2456G>C (p.Ser819Thr)
Xg.108681793G>TCA413852004COL4A5c.4121G>T (p.Ser1374Ile)
c.4103G>T (p.Ser1368Ile)
n.615G>T
n.524G>T
c.4112G>T (p.Ser1371Ile)
c.3797G>T (p.Ser1266Ile)
c.1694G>T (p.Ser565Ile)
c.4136G>T (p.Ser1379Ile)
c.4127G>T (p.Ser1376Ile)
c.4118G>T (p.Ser1373Ile)
c.2456G>T (p.Ser819Ile)
Xg.108681794T>ACA413852006COL4A5c.4122T>A (p.Ser1374Arg)
c.4104T>A (p.Ser1368Arg)
n.616T>A
n.525T>A
c.4113T>A (p.Ser1371Arg)
c.3798T>A (p.Ser1266Arg)
c.1695T>A (p.Ser565Arg)
c.4137T>A (p.Ser1379Arg)
c.4128T>A (p.Ser1376Arg)
c.4119T>A (p.Ser1373Arg)
c.2457T>A (p.Ser819Arg)
Xg.108681794T>CCA517923813COL4A5c.4122T>C (p.Ser1374=)
c.4104T>C (p.Ser1368=)
n.616T>C
n.525T>C
c.4113T>C (p.Ser1371=)
c.3798T>C (p.Ser1266=)
c.1695T>C (p.Ser565=)
c.4137T>C (p.Ser1379=)
c.4128T>C (p.Ser1376=)
c.4119T>C (p.Ser1373=)
c.2457T>C (p.Ser819=)
 gnomAD v4
Xg.108681794T>GCA413852008COL4A5c.4122T>G (p.Ser1374Arg)
c.4104T>G (p.Ser1368Arg)
n.616T>G
n.525T>G
c.4113T>G (p.Ser1371Arg)
c.3798T>G (p.Ser1266Arg)
c.1695T>G (p.Ser565Arg)
c.4137T>G (p.Ser1379Arg)
c.4128T>G (p.Ser1376Arg)
c.4119T>G (p.Ser1373Arg)
c.2457T>G (p.Ser819Arg)
Xg.108681796_108681804dupCA2739273723COL4A5c.4124_4132dup (p.Ile1377_Lys1378insIleIleIle)
c.4106_4114dup (p.Ile1371_Lys1372insIleIleIle)
n.618_626dup
n.527_535dup
c.4115_4123dup (p.Ile1374_Lys1375insIleIleIle)
c.3800_3808dup (p.Ile1269_Lys1270insIleIleIle)
c.1697_1705dup (p.Ile568_Lys569insIleIleIle)
c.4139_4147dup (p.Ile1382_Lys1383insIleIleIle)
c.4130_4138dup (p.Ile1379_Lys1380insIleIleIle)
c.4121_4129dup (p.Ile1376_Lys1377insIleIleIle)
c.2459_2467dup (p.Ile822_Lys823insIleIleIle)
 ClinVar
Xg.108681795A>CCA413852011COL4A5c.4123A>C (p.Ile1375Leu)
c.4105A>C (p.Ile1369Leu)
n.617A>C
n.526A>C
c.4114A>C (p.Ile1372Leu)
c.3799A>C (p.Ile1267Leu)
c.1696A>C (p.Ile566Leu)
c.4138A>C (p.Ile1380Leu)
c.4129A>C (p.Ile1377Leu)
c.4120A>C (p.Ile1374Leu)
c.2458A>C (p.Ile820Leu)
Xg.108681795A>GCA413852015COL4A5c.4123A>G (p.Ile1375Val)
c.4105A>G (p.Ile1369Val)
n.617A>G
n.526A>G
c.4114A>G (p.Ile1372Val)
c.3799A>G (p.Ile1267Val)
c.1696A>G (p.Ile566Val)
c.4138A>G (p.Ile1380Val)
c.4129A>G (p.Ile1377Val)
c.4120A>G (p.Ile1374Val)
c.2458A>G (p.Ile820Val)
 gnomAD v4
Xg.108681795A>TCA413852013COL4A5c.4123A>T (p.Ile1375Phe)
c.4105A>T (p.Ile1369Phe)
n.617A>T
n.526A>T
c.4114A>T (p.Ile1372Phe)
c.3799A>T (p.Ile1267Phe)
c.1696A>T (p.Ile566Phe)
c.4138A>T (p.Ile1380Phe)
c.4129A>T (p.Ile1377Phe)
c.4120A>T (p.Ile1374Phe)
c.2458A>T (p.Ile820Phe)
Xg.108681796T>ACA413852018COL4A5c.4124T>A (p.Ile1375Asn)
c.4106T>A (p.Ile1369Asn)
n.618T>A
n.527T>A
c.4115T>A (p.Ile1372Asn)
c.3800T>A (p.Ile1267Asn)
c.1697T>A (p.Ile566Asn)
c.4139T>A (p.Ile1380Asn)
c.4130T>A (p.Ile1377Asn)
c.4121T>A (p.Ile1374Asn)
c.2459T>A (p.Ile820Asn)
Xg.108681796T>CCA413852019COL4A5c.4124T>C (p.Ile1375Thr)
c.4106T>C (p.Ile1369Thr)
n.618T>C
n.527T>C
c.4115T>C (p.Ile1372Thr)
c.3800T>C (p.Ile1267Thr)
c.1697T>C (p.Ile566Thr)
c.4139T>C (p.Ile1380Thr)
c.4130T>C (p.Ile1377Thr)
c.4121T>C (p.Ile1374Thr)
c.2459T>C (p.Ile820Thr)
Xg.108681796T>GCA413852020COL4A5c.4124T>G (p.Ile1375Ser)
c.4106T>G (p.Ile1369Ser)
n.618T>G
n.527T>G
c.4115T>G (p.Ile1372Ser)
c.3800T>G (p.Ile1267Ser)
c.1697T>G (p.Ile566Ser)
c.4139T>G (p.Ile1380Ser)
c.4130T>G (p.Ile1377Ser)
c.4121T>G (p.Ile1374Ser)
c.2459T>G (p.Ile820Ser)
Xg.108681797C>ACA517923814COL4A5c.4125C>A (p.Ile1375=)
c.4107C>A (p.Ile1369=)
n.619C>A
n.528C>A
c.4116C>A (p.Ile1372=)
c.3801C>A (p.Ile1267=)
c.1698C>A (p.Ile566=)
c.4140C>A (p.Ile1380=)
c.4131C>A (p.Ile1377=)
c.4122C>A (p.Ile1374=)
c.2460C>A (p.Ile820=)
 gnomAD v4
Xg.108681797C=CA2450717226COL4A5c.4125C= (p.Ile1375=)
c.4107C= (p.Ile1369=)
n.619C=
n.528C=
c.4116C= (p.Ile1372=)
c.3801C= (p.Ile1267=)
c.1698C= (p.Ile566=)
c.4140C= (p.Ile1380=)
c.4131C= (p.Ile1377=)
c.4122C= (p.Ile1374=)
c.2460C= (p.Ile820=)
Xg.108681797C>GCA413852021COL4A5c.4125C>G (p.Ile1375Met)
c.4107C>G (p.Ile1369Met)
n.619C>G
n.528C>G
c.4116C>G (p.Ile1372Met)
c.3801C>G (p.Ile1267Met)
c.1698C>G (p.Ile566Met)
c.4140C>G (p.Ile1380Met)
c.4131C>G (p.Ile1377Met)
c.4122C>G (p.Ile1374Met)
c.2460C>G (p.Ile820Met)
Xg.108681797C>TCA10489296COL4A5c.4125C>T (p.Ile1375=)
c.4107C>T (p.Ile1369=)
n.619C>T
n.528C>T
c.4116C>T (p.Ile1372=)
c.3801C>T (p.Ile1267=)
c.1698C>T (p.Ile566=)
c.4140C>T (p.Ile1380=)
c.4131C>T (p.Ile1377=)
c.4122C>T (p.Ile1374=)
c.2460C>T (p.Ile820=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108681798A>CCA413852023COL4A5c.4126A>C (p.Ile1376Leu)
c.4108A>C (p.Ile1370Leu)
n.620A>C
n.529A>C
c.4117A>C (p.Ile1373Leu)
c.3802A>C (p.Ile1268Leu)
c.1699A>C (p.Ile567Leu)
c.4141A>C (p.Ile1381Leu)
c.4132A>C (p.Ile1378Leu)
c.4123A>C (p.Ile1375Leu)
c.2461A>C (p.Ile821Leu)
Xg.108681798A>GCA413852030COL4A5c.4126A>G (p.Ile1376Val)
c.4108A>G (p.Ile1370Val)
n.620A>G
n.529A>G
c.4117A>G (p.Ile1373Val)
c.3802A>G (p.Ile1268Val)
c.1699A>G (p.Ile567Val)
c.4141A>G (p.Ile1381Val)
c.4132A>G (p.Ile1378Val)
c.4123A>G (p.Ile1375Val)
c.2461A>G (p.Ile821Val)
 gnomAD v4
Xg.108681798A>TCA413852032COL4A5c.4126A>T (p.Ile1376Leu)
c.4108A>T (p.Ile1370Leu)
n.620A>T
n.529A>T
c.4117A>T (p.Ile1373Leu)
c.3802A>T (p.Ile1268Leu)
c.1699A>T (p.Ile567Leu)
c.4141A>T (p.Ile1381Leu)
c.4132A>T (p.Ile1378Leu)
c.4123A>T (p.Ile1375Leu)
c.2461A>T (p.Ile821Leu)
Xg.108681799T>ACA413852035COL4A5c.4127T>A (p.Ile1376Lys)
c.4109T>A (p.Ile1370Lys)
n.621T>A
n.530T>A
c.4118T>A (p.Ile1373Lys)
c.3803T>A (p.Ile1268Lys)
c.1700T>A (p.Ile567Lys)
c.4142T>A (p.Ile1381Lys)
c.4133T>A (p.Ile1378Lys)
c.4124T>A (p.Ile1375Lys)
c.2462T>A (p.Ile821Lys)
Xg.108681799T>CCA413852036COL4A5c.4127T>C (p.Ile1376Thr)
c.4109T>C (p.Ile1370Thr)
n.621T>C
n.530T>C
c.4118T>C (p.Ile1373Thr)
c.3803T>C (p.Ile1268Thr)
c.1700T>C (p.Ile567Thr)
c.4142T>C (p.Ile1381Thr)
c.4133T>C (p.Ile1378Thr)
c.4124T>C (p.Ile1375Thr)
c.2462T>C (p.Ile821Thr)
 gnomAD v4
Xg.108681799T>GCA413852037COL4A5c.4127T>G (p.Ile1376Arg)
c.4109T>G (p.Ile1370Arg)
n.621T>G
n.530T>G
c.4118T>G (p.Ile1373Arg)
c.3803T>G (p.Ile1268Arg)
c.1700T>G (p.Ile567Arg)
c.4142T>G (p.Ile1381Arg)
c.4133T>G (p.Ile1378Arg)
c.4124T>G (p.Ile1375Arg)
c.2462T>G (p.Ile821Arg)
Xg.108681800A>CCA517923815COL4A5c.4128A>C (p.Ile1376=)
c.4110A>C (p.Ile1370=)
n.622A>C
n.531A>C
c.4119A>C (p.Ile1373=)
c.3804A>C (p.Ile1268=)
c.1701A>C (p.Ile567=)
c.4143A>C (p.Ile1381=)
c.4134A>C (p.Ile1378=)
c.4125A>C (p.Ile1375=)
c.2463A>C (p.Ile821=)
Xg.108681800A>GCA413852038COL4A5c.4128A>G (p.Ile1376Met)
c.4110A>G (p.Ile1370Met)
n.622A>G
n.531A>G
c.4119A>G (p.Ile1373Met)
c.3804A>G (p.Ile1268Met)
c.1701A>G (p.Ile567Met)
c.4143A>G (p.Ile1381Met)
c.4134A>G (p.Ile1378Met)
c.4125A>G (p.Ile1375Met)
c.2463A>G (p.Ile821Met)
Xg.108681800A>TCA517923816COL4A5c.4128A>T (p.Ile1376=)
c.4110A>T (p.Ile1370=)
n.622A>T
n.531A>T
c.4119A>T (p.Ile1373=)
c.3804A>T (p.Ile1268=)
c.1701A>T (p.Ile567=)
c.4143A>T (p.Ile1381=)
c.4134A>T (p.Ile1378=)
c.4125A>T (p.Ile1375=)
c.2463A>T (p.Ile821=)
Xg.108681801A=CA2450717227COL4A5c.4129A= (p.Ile1377=)
c.4111A= (p.Ile1371=)
n.623A=
n.532A=
c.4120A= (p.Ile1374=)
c.3805A= (p.Ile1269=)
c.1702A= (p.Ile568=)
c.4144A= (p.Ile1382=)
c.4135A= (p.Ile1379=)
c.4126A= (p.Ile1376=)
c.2464A= (p.Ile822=)
Xg.108681801A>CCA334055325COL4A5c.4129A>C (p.Ile1377Leu)
c.4111A>C (p.Ile1371Leu)
n.623A>C
n.532A>C
c.4120A>C (p.Ile1374Leu)
c.3805A>C (p.Ile1269Leu)
c.1702A>C (p.Ile568Leu)
c.4144A>C (p.Ile1382Leu)
c.4135A>C (p.Ile1379Leu)
c.4126A>C (p.Ile1376Leu)
c.2464A>C (p.Ile822Leu)
 dbSNP gnomAD v3 gnomAD v4
Xg.108681801A>GCA413852040COL4A5c.4129A>G (p.Ile1377Val)
c.4111A>G (p.Ile1371Val)
n.623A>G
n.532A>G
c.4120A>G (p.Ile1374Val)
c.3805A>G (p.Ile1269Val)
c.1702A>G (p.Ile568Val)
c.4144A>G (p.Ile1382Val)
c.4135A>G (p.Ile1379Val)
c.4126A>G (p.Ile1376Val)
c.2464A>G (p.Ile822Val)
Xg.108681801A>TCA413852042COL4A5c.4129A>T (p.Ile1377Phe)
c.4111A>T (p.Ile1371Phe)
n.623A>T
n.532A>T
c.4120A>T (p.Ile1374Phe)
c.3805A>T (p.Ile1269Phe)
c.1702A>T (p.Ile568Phe)
c.4144A>T (p.Ile1382Phe)
c.4135A>T (p.Ile1379Phe)
c.4126A>T (p.Ile1376Phe)
c.2464A>T (p.Ile822Phe)
Xg.108681802T>ACA413852049COL4A5c.4130T>A (p.Ile1377Asn)
c.4112T>A (p.Ile1371Asn)
n.624T>A
n.533T>A
c.4121T>A (p.Ile1374Asn)
c.3806T>A (p.Ile1269Asn)
c.1703T>A (p.Ile568Asn)
c.4145T>A (p.Ile1382Asn)
c.4136T>A (p.Ile1379Asn)
c.4127T>A (p.Ile1376Asn)
c.2465T>A (p.Ile822Asn)
Xg.108681802T>CCA413852052COL4A5c.4130T>C (p.Ile1377Thr)
c.4112T>C (p.Ile1371Thr)
n.624T>C
n.533T>C
c.4121T>C (p.Ile1374Thr)
c.3806T>C (p.Ile1269Thr)
c.1703T>C (p.Ile568Thr)
c.4145T>C (p.Ile1382Thr)
c.4136T>C (p.Ile1379Thr)
c.4127T>C (p.Ile1376Thr)
c.2465T>C (p.Ile822Thr)
Xg.108681802T>GCA413852054COL4A5c.4130T>G (p.Ile1377Ser)
c.4112T>G (p.Ile1371Ser)
n.624T>G
n.533T>G
c.4121T>G (p.Ile1374Ser)
c.3806T>G (p.Ile1269Ser)
c.1703T>G (p.Ile568Ser)
c.4145T>G (p.Ile1382Ser)
c.4136T>G (p.Ile1379Ser)
c.4127T>G (p.Ile1376Ser)
c.2465T>G (p.Ile822Ser)
Xg.108681803T>ACA517923817COL4A5c.4131T>A (p.Ile1377=)
c.4113T>A (p.Ile1371=)
n.625T>A
n.534T>A
c.4122T>A (p.Ile1374=)
c.3807T>A (p.Ile1269=)
c.1704T>A (p.Ile568=)
c.4146T>A (p.Ile1382=)
c.4137T>A (p.Ile1379=)
c.4128T>A (p.Ile1376=)
c.2466T>A (p.Ile822=)
Xg.108681803T>CCA517923818COL4A5c.4131T>C (p.Ile1377=)
c.4113T>C (p.Ile1371=)
n.625T>C
n.534T>C
c.4122T>C (p.Ile1374=)
c.3807T>C (p.Ile1269=)
c.1704T>C (p.Ile568=)
c.4146T>C (p.Ile1382=)
c.4137T>C (p.Ile1379=)
c.4128T>C (p.Ile1376=)
c.2466T>C (p.Ile822=)
 gnomAD v3 gnomAD v4
Xg.108681803T>GCA413852055COL4A5c.4131T>G (p.Ile1377Met)
c.4113T>G (p.Ile1371Met)
n.625T>G
n.534T>G
c.4122T>G (p.Ile1374Met)
c.3807T>G (p.Ile1269Met)
c.1704T>G (p.Ile568Met)
c.4146T>G (p.Ile1382Met)
c.4137T>G (p.Ile1379Met)
c.4128T>G (p.Ile1376Met)
c.2466T>G (p.Ile822Met)
Xg.108681804A>CCA413852056COL4A5c.4132A>C (p.Lys1378Gln)
c.4114A>C (p.Lys1372Gln)
n.626A>C
n.535A>C
c.4123A>C (p.Lys1375Gln)
c.3808A>C (p.Lys1270Gln)
c.1705A>C (p.Lys569Gln)
c.4147A>C (p.Lys1383Gln)
c.4138A>C (p.Lys1380Gln)
c.4129A>C (p.Lys1377Gln)
c.2467A>C (p.Lys823Gln)
Xg.108681804A>GCA413852057COL4A5c.4132A>G (p.Lys1378Glu)
c.4114A>G (p.Lys1372Glu)
n.626A>G
n.535A>G
c.4123A>G (p.Lys1375Glu)
c.3808A>G (p.Lys1270Glu)
c.1705A>G (p.Lys569Glu)
c.4147A>G (p.Lys1383Glu)
c.4138A>G (p.Lys1380Glu)
c.4129A>G (p.Lys1377Glu)
c.2467A>G (p.Lys823Glu)
Xg.108681804A>TCA413852058COL4A5c.4132A>T (p.Lys1378Ter)
c.4114A>T (p.Lys1372Ter)
n.626A>T
n.535A>T
c.4123A>T (p.Lys1375Ter)
c.3808A>T (p.Lys1270Ter)
c.1705A>T (p.Lys569Ter)
c.4147A>T (p.Lys1383Ter)
c.4138A>T (p.Lys1380Ter)
c.4129A>T (p.Lys1377Ter)
c.2467A>T (p.Lys823Ter)
Xg.108681805A>CCA413852061COL4A5c.4133A>C (p.Lys1378Thr)
c.4115A>C (p.Lys1372Thr)
n.627A>C
n.536A>C
c.4124A>C (p.Lys1375Thr)
c.3809A>C (p.Lys1270Thr)
c.1706A>C (p.Lys569Thr)
c.4148A>C (p.Lys1383Thr)
c.4139A>C (p.Lys1380Thr)
c.4130A>C (p.Lys1377Thr)
c.2468A>C (p.Lys823Thr)
Xg.108681805A>GCA413852065COL4A5c.4133A>G (p.Lys1378Arg)
c.4115A>G (p.Lys1372Arg)
n.627A>G
n.536A>G
c.4124A>G (p.Lys1375Arg)
c.3809A>G (p.Lys1270Arg)
c.1706A>G (p.Lys569Arg)
c.4148A>G (p.Lys1383Arg)
c.4139A>G (p.Lys1380Arg)
c.4130A>G (p.Lys1377Arg)
c.2468A>G (p.Lys823Arg)
Xg.108681805A>TCA413852066COL4A5c.4133A>T (p.Lys1378Ile)
c.4115A>T (p.Lys1372Ile)
n.627A>T
n.536A>T
c.4124A>T (p.Lys1375Ile)
c.3809A>T (p.Lys1270Ile)
c.1706A>T (p.Lys569Ile)
c.4148A>T (p.Lys1383Ile)
c.4139A>T (p.Lys1380Ile)
c.4130A>T (p.Lys1377Ile)
c.2468A>T (p.Lys823Ile)
Xg.108681806A>CCA413852068COL4A5c.4134A>C (p.Lys1378Asn)
c.4116A>C (p.Lys1372Asn)
n.628A>C
n.537A>C
c.4125A>C (p.Lys1375Asn)
c.3810A>C (p.Lys1270Asn)
c.1707A>C (p.Lys569Asn)
c.4149A>C (p.Lys1383Asn)
c.4140A>C (p.Lys1380Asn)
c.4131A>C (p.Lys1377Asn)
c.2469A>C (p.Lys823Asn)
Xg.108681806A>GCA517923819COL4A5c.4134A>G (p.Lys1378=)
c.4116A>G (p.Lys1372=)
n.628A>G
n.537A>G
c.4125A>G (p.Lys1375=)
c.3810A>G (p.Lys1270=)
c.1707A>G (p.Lys569=)
c.4149A>G (p.Lys1383=)
c.4140A>G (p.Lys1380=)
c.4131A>G (p.Lys1377=)
c.2469A>G (p.Lys823=)
Xg.108681806A>TCA413852070COL4A5c.4134A>T (p.Lys1378Asn)
c.4116A>T (p.Lys1372Asn)
n.628A>T
n.537A>T
c.4125A>T (p.Lys1375Asn)
c.3810A>T (p.Lys1270Asn)
c.1707A>T (p.Lys569Asn)
c.4149A>T (p.Lys1383Asn)
c.4140A>T (p.Lys1380Asn)
c.4131A>T (p.Lys1377Asn)
c.2469A>T (p.Lys823Asn)
Xg.108681807G>ACA413852074COL4A5c.4135G>A (p.Gly1379Arg)
c.4117G>A (p.Gly1373Arg)
n.629G>A
n.538G>A
c.4126G>A (p.Gly1376Arg)
c.3811G>A (p.Gly1271Arg)
c.1708G>A (p.Gly570Arg)
c.4150G>A (p.Gly1384Arg)
c.4141G>A (p.Gly1381Arg)
c.4132G>A (p.Gly1378Arg)
c.2470G>A (p.Gly824Arg)
Xg.108681807G>CCA413852073COL4A5c.4135G>C (p.Gly1379Arg)
c.4117G>C (p.Gly1373Arg)
n.629G>C
n.538G>C
c.4126G>C (p.Gly1376Arg)
c.3811G>C (p.Gly1271Arg)
c.1708G>C (p.Gly570Arg)
c.4150G>C (p.Gly1384Arg)
c.4141G>C (p.Gly1381Arg)
c.4132G>C (p.Gly1378Arg)
c.2470G>C (p.Gly824Arg)
Xg.108681807G>TCA413852072COL4A5c.4135G>T (p.Gly1379Ter)
c.4117G>T (p.Gly1373Ter)
n.629G>T
n.538G>T
c.4126G>T (p.Gly1376Ter)
c.3811G>T (p.Gly1271Ter)
c.1708G>T (p.Gly570Ter)
c.4150G>T (p.Gly1384Ter)
c.4141G>T (p.Gly1381Ter)
c.4132G>T (p.Gly1378Ter)
c.2470G>T (p.Gly824Ter)
 COSMIC
Xg.108681808G>ACA413852075COL4A5c.4136G>A (p.Gly1379Glu)
c.4118G>A (p.Gly1373Glu)
n.630G>A
n.539G>A
c.4127G>A (p.Gly1376Glu)
c.3812G>A (p.Gly1271Glu)
c.1709G>A (p.Gly570Glu)
c.4151G>A (p.Gly1384Glu)
c.4142G>A (p.Gly1381Glu)
c.4133G>A (p.Gly1378Glu)
c.2471G>A (p.Gly824Glu)
Xg.108681808G>CCA413852077COL4A5c.4136G>C (p.Gly1379Ala)
c.4118G>C (p.Gly1373Ala)
n.630G>C
n.539G>C
c.4127G>C (p.Gly1376Ala)
c.3812G>C (p.Gly1271Ala)
c.1709G>C (p.Gly570Ala)
c.4151G>C (p.Gly1384Ala)
c.4142G>C (p.Gly1381Ala)
c.4133G>C (p.Gly1378Ala)
c.2471G>C (p.Gly824Ala)
Xg.108681808G>TCA413852079COL4A5c.4136G>T (p.Gly1379Val)
c.4118G>T (p.Gly1373Val)
n.630G>T
n.539G>T
c.4127G>T (p.Gly1376Val)
c.3812G>T (p.Gly1271Val)
c.1709G>T (p.Gly570Val)
c.4151G>T (p.Gly1384Val)
c.4142G>T (p.Gly1381Val)
c.4133G>T (p.Gly1378Val)
c.2471G>T (p.Gly824Val)
Xg.108681809A>CCA517923820COL4A5c.4137A>C (p.Gly1379=)
c.4119A>C (p.Gly1373=)
n.631A>C
n.540A>C
c.4128A>C (p.Gly1376=)
c.3813A>C (p.Gly1271=)
c.1710A>C (p.Gly570=)
c.4152A>C (p.Gly1384=)
c.4143A>C (p.Gly1381=)
c.4134A>C (p.Gly1378=)
c.2472A>C (p.Gly824=)
Xg.108681809A>GCA517923821COL4A5c.4137A>G (p.Gly1379=)
c.4119A>G (p.Gly1373=)
n.631A>G
n.540A>G
c.4128A>G (p.Gly1376=)
c.3813A>G (p.Gly1271=)
c.1710A>G (p.Gly570=)
c.4152A>G (p.Gly1384=)
c.4143A>G (p.Gly1381=)
c.4134A>G (p.Gly1378=)
c.2472A>G (p.Gly824=)
Xg.108681809A>TCA517923822COL4A5c.4137A>T (p.Gly1379=)
c.4119A>T (p.Gly1373=)
n.631A>T
n.540A>T
c.4128A>T (p.Gly1376=)
c.3813A>T (p.Gly1271=)
c.1710A>T (p.Gly570=)
c.4152A>T (p.Gly1384=)
c.4143A>T (p.Gly1381=)
c.4134A>T (p.Gly1378=)
c.2472A>T (p.Gly824=)
Xg.108681810G>ACA413852080COL4A5c.4138G>A (p.Asp1380Asn)
c.4120G>A (p.Asp1374Asn)
n.632G>A
n.541G>A
c.4129G>A (p.Asp1377Asn)
c.3814G>A (p.Asp1272Asn)
c.1711G>A (p.Asp571Asn)
c.4153G>A (p.Asp1385Asn)
c.4144G>A (p.Asp1382Asn)
c.4135G>A (p.Asp1379Asn)
c.2473G>A (p.Asp825Asn)
Xg.108681810G>CCA413852081COL4A5c.4138G>C (p.Asp1380His)
c.4120G>C (p.Asp1374His)
n.632G>C
n.541G>C
c.4129G>C (p.Asp1377His)
c.3814G>C (p.Asp1272His)
c.1711G>C (p.Asp571His)
c.4153G>C (p.Asp1385His)
c.4144G>C (p.Asp1382His)
c.4135G>C (p.Asp1379His)
c.2473G>C (p.Asp825His)
Xg.108681810G>TCA413852084COL4A5c.4138G>T (p.Asp1380Tyr)
c.4120G>T (p.Asp1374Tyr)
n.632G>T
n.541G>T
c.4129G>T (p.Asp1377Tyr)
c.3814G>T (p.Asp1272Tyr)
c.1711G>T (p.Asp571Tyr)
c.4153G>T (p.Asp1385Tyr)
c.4144G>T (p.Asp1382Tyr)
c.4135G>T (p.Asp1379Tyr)
c.2473G>T (p.Asp825Tyr)
Xg.108681811A>CCA413852088COL4A5c.4139A>C (p.Asp1380Ala)
c.4121A>C (p.Asp1374Ala)
n.633A>C
n.542A>C
c.4130A>C (p.Asp1377Ala)
c.3815A>C (p.Asp1272Ala)
c.1712A>C (p.Asp571Ala)
c.4154A>C (p.Asp1385Ala)
c.4145A>C (p.Asp1382Ala)
c.4136A>C (p.Asp1379Ala)
c.2474A>C (p.Asp825Ala)
Xg.108681811A>GCA413852091COL4A5c.4139A>G (p.Asp1380Gly)
c.4121A>G (p.Asp1374Gly)
n.633A>G
n.542A>G
c.4130A>G (p.Asp1377Gly)
c.3815A>G (p.Asp1272Gly)
c.1712A>G (p.Asp571Gly)
c.4154A>G (p.Asp1385Gly)
c.4145A>G (p.Asp1382Gly)
c.4136A>G (p.Asp1379Gly)
c.2474A>G (p.Asp825Gly)
Xg.108681811A>TCA413852094COL4A5c.4139A>T (p.Asp1380Val)
c.4121A>T (p.Asp1374Val)
n.633A>T
n.542A>T
c.4130A>T (p.Asp1377Val)
c.3815A>T (p.Asp1272Val)
c.1712A>T (p.Asp571Val)
c.4154A>T (p.Asp1385Val)
c.4145A>T (p.Asp1382Val)
c.4136A>T (p.Asp1379Val)
c.2474A>T (p.Asp825Val)
Xg.108681812T>ACA413852100COL4A5c.4140T>A (p.Asp1380Glu)
c.4122T>A (p.Asp1374Glu)
n.634T>A
n.543T>A
c.4131T>A (p.Asp1377Glu)
c.3816T>A (p.Asp1272Glu)
c.1713T>A (p.Asp571Glu)
c.4155T>A (p.Asp1385Glu)
c.4146T>A (p.Asp1382Glu)
c.4137T>A (p.Asp1379Glu)
c.2475T>A (p.Asp825Glu)
Xg.108681812T>CCA517923823COL4A5c.4140T>C (p.Asp1380=)
c.4122T>C (p.Asp1374=)
n.634T>C
n.543T>C
c.4131T>C (p.Asp1377=)
c.3816T>C (p.Asp1272=)
c.1713T>C (p.Asp571=)
c.4155T>C (p.Asp1385=)
c.4146T>C (p.Asp1382=)
c.4137T>C (p.Asp1379=)
c.2475T>C (p.Asp825=)
Xg.108681812T>GCA413852103COL4A5c.4140T>G (p.Asp1380Glu)
c.4122T>G (p.Asp1374Glu)
n.634T>G
n.543T>G
c.4131T>G (p.Asp1377Glu)
c.3816T>G (p.Asp1272Glu)
c.1713T>G (p.Asp571Glu)
c.4155T>G (p.Asp1385Glu)
c.4146T>G (p.Asp1382Glu)
c.4137T>G (p.Asp1379Glu)
c.2475T>G (p.Asp825Glu)
Xg.108681813G>ACA413852104COL4A5c.4141G>A (p.Ala1381Thr)
c.4123G>A (p.Ala1375Thr)
n.635G>A
n.544G>A
c.4132G>A (p.Ala1378Thr)
c.3817G>A (p.Ala1273Thr)
c.1714G>A (p.Ala572Thr)
c.4156G>A (p.Ala1386Thr)
c.4147G>A (p.Ala1383Thr)
c.4138G>A (p.Ala1380Thr)
c.2476G>A (p.Ala826Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108681813G>CCA413852106COL4A5c.4141G>C (p.Ala1381Pro)
c.4123G>C (p.Ala1375Pro)
n.635G>C
n.544G>C
c.4132G>C (p.Ala1378Pro)
c.3817G>C (p.Ala1273Pro)
c.1714G>C (p.Ala572Pro)
c.4156G>C (p.Ala1386Pro)
c.4147G>C (p.Ala1383Pro)
c.4138G>C (p.Ala1380Pro)
c.2476G>C (p.Ala826Pro)
Xg.108681813G=CA2450717228COL4A5c.4141G= (p.Ala1381=)
c.4123G= (p.Ala1375=)
n.635G=
n.544G=
c.4132G= (p.Ala1378=)
c.3817G= (p.Ala1273=)
c.1714G= (p.Ala572=)
c.4156G= (p.Ala1386=)
c.4147G= (p.Ala1383=)
c.4138G= (p.Ala1380=)
c.2476G= (p.Ala826=)
Xg.108681813G>TCA413852113COL4A5c.4141G>T (p.Ala1381Ser)
c.4123G>T (p.Ala1375Ser)
n.635G>T
n.544G>T
c.4132G>T (p.Ala1378Ser)
c.3817G>T (p.Ala1273Ser)
c.1714G>T (p.Ala572Ser)
c.4156G>T (p.Ala1386Ser)
c.4147G>T (p.Ala1383Ser)
c.4138G>T (p.Ala1380Ser)
c.2476G>T (p.Ala826Ser)
 COSMIC
Xg.108681814C>ACA413852117COL4A5c.4142C>A (p.Ala1381Asp)
c.4124C>A (p.Ala1375Asp)
n.636C>A
n.545C>A
c.4133C>A (p.Ala1378Asp)
c.3818C>A (p.Ala1273Asp)
c.1715C>A (p.Ala572Asp)
c.4157C>A (p.Ala1386Asp)
c.4148C>A (p.Ala1383Asp)
c.4139C>A (p.Ala1380Asp)
c.2477C>A (p.Ala826Asp)
Xg.108681814C>GCA413852120COL4A5c.4142C>G (p.Ala1381Gly)
c.4124C>G (p.Ala1375Gly)
n.636C>G
n.545C>G
c.4133C>G (p.Ala1378Gly)
c.3818C>G (p.Ala1273Gly)
c.1715C>G (p.Ala572Gly)
c.4157C>G (p.Ala1386Gly)
c.4148C>G (p.Ala1383Gly)
c.4139C>G (p.Ala1380Gly)
c.2477C>G (p.Ala826Gly)
Xg.108681814C>TCA413852116COL4A5c.4142C>T (p.Ala1381Val)
c.4124C>T (p.Ala1375Val)
n.636C>T
n.545C>T
c.4133C>T (p.Ala1378Val)
c.3818C>T (p.Ala1273Val)
c.1715C>T (p.Ala572Val)
c.4157C>T (p.Ala1386Val)
c.4148C>T (p.Ala1383Val)
c.4139C>T (p.Ala1380Val)
c.2477C>T (p.Ala826Val)
Xg.108681815T>ACA517923826COL4A5c.4143T>A (p.Ala1381=)
c.4125T>A (p.Ala1375=)
n.637T>A
n.546T>A
c.4134T>A (p.Ala1378=)
c.3819T>A (p.Ala1273=)
c.1716T>A (p.Ala572=)
c.4158T>A (p.Ala1386=)
c.4149T>A (p.Ala1383=)
c.4140T>A (p.Ala1380=)
c.2478T>A (p.Ala826=)
Xg.108681815T>CCA517923825COL4A5c.4143T>C (p.Ala1381=)
c.4125T>C (p.Ala1375=)
n.637T>C
n.546T>C
c.4134T>C (p.Ala1378=)
c.3819T>C (p.Ala1273=)
c.1716T>C (p.Ala572=)
c.4158T>C (p.Ala1386=)
c.4149T>C (p.Ala1383=)
c.4140T>C (p.Ala1380=)
c.2478T>C (p.Ala826=)
Xg.108681815T>GCA517923824COL4A5c.4143T>G (p.Ala1381=)
c.4125T>G (p.Ala1375=)
n.637T>G
n.546T>G
c.4134T>G (p.Ala1378=)
c.3819T>G (p.Ala1273=)
c.1716T>G (p.Ala572=)
c.4158T>G (p.Ala1386=)
c.4149T>G (p.Ala1383=)
c.4140T>G (p.Ala1380=)
c.2478T>G (p.Ala826=)
Xg.108681816G>ACA413852122COL4A5c.4144G>A (p.Gly1382Ser)
c.4126G>A (p.Gly1376Ser)
n.638G>A
n.547G>A
c.4135G>A (p.Gly1379Ser)
c.3820G>A (p.Gly1274Ser)
c.1717G>A (p.Gly573Ser)
c.4159G>A (p.Gly1387Ser)
c.4150G>A (p.Gly1384Ser)
c.4141G>A (p.Gly1381Ser)
c.2479G>A (p.Gly827Ser)
Xg.108681816G>CCA413852123COL4A5c.4144G>C (p.Gly1382Arg)
c.4126G>C (p.Gly1376Arg)
n.638G>C
n.547G>C
c.4135G>C (p.Gly1379Arg)
c.3820G>C (p.Gly1274Arg)
c.1717G>C (p.Gly573Arg)
c.4159G>C (p.Gly1387Arg)
c.4150G>C (p.Gly1384Arg)
c.4141G>C (p.Gly1381Arg)
c.2479G>C (p.Gly827Arg)
Xg.108681816G>TCA413852126COL4A5c.4144G>T (p.Gly1382Cys)
c.4126G>T (p.Gly1376Cys)
n.638G>T
n.547G>T
c.4135G>T (p.Gly1379Cys)
c.3820G>T (p.Gly1274Cys)
c.1717G>T (p.Gly573Cys)
c.4159G>T (p.Gly1387Cys)
c.4150G>T (p.Gly1384Cys)
c.4141G>T (p.Gly1381Cys)
c.2479G>T (p.Gly827Cys)
 COSMIC
Xg.108681817G>ACA413852128COL4A5c.4145G>A (p.Gly1382Asp)
c.4127G>A (p.Gly1376Asp)
n.639G>A
n.548G>A
c.4136G>A (p.Gly1379Asp)
c.3821G>A (p.Gly1274Asp)
c.1718G>A (p.Gly573Asp)
c.4160G>A (p.Gly1387Asp)
c.4151G>A (p.Gly1384Asp)
c.4142G>A (p.Gly1381Asp)
c.2480G>A (p.Gly827Asp)
 ClinVar
Xg.108681817G>CCA413852129COL4A5c.4145G>C (p.Gly1382Ala)
c.4127G>C (p.Gly1376Ala)
n.639G>C
n.548G>C
c.4136G>C (p.Gly1379Ala)
c.3821G>C (p.Gly1274Ala)
c.1718G>C (p.Gly573Ala)
c.4160G>C (p.Gly1387Ala)
c.4151G>C (p.Gly1384Ala)
c.4142G>C (p.Gly1381Ala)
c.2480G>C (p.Gly827Ala)
 ClinVar dbSNP
Xg.108681817G>TCA413852135COL4A5c.4145G>T (p.Gly1382Val)
c.4127G>T (p.Gly1376Val)
n.639G>T
n.548G>T
c.4136G>T (p.Gly1379Val)
c.3821G>T (p.Gly1274Val)
c.1718G>T (p.Gly573Val)
c.4160G>T (p.Gly1387Val)
c.4151G>T (p.Gly1384Val)
c.4142G>T (p.Gly1381Val)
c.2480G>T (p.Gly827Val)
Xg.108681818T>ACA517923827COL4A5c.4146T>A (p.Gly1382=)
c.4128T>A (p.Gly1376=)
n.640T>A
n.549T>A
c.4137T>A (p.Gly1379=)
c.3822T>A (p.Gly1274=)
c.1719T>A (p.Gly573=)
c.4161T>A (p.Gly1387=)
c.4152T>A (p.Gly1384=)
c.4143T>A (p.Gly1381=)
c.2481T>A (p.Gly827=)
Xg.108681818T>CCA517923829COL4A5c.4146T>C (p.Gly1382=)
c.4128T>C (p.Gly1376=)
n.640T>C
n.549T>C
c.4137T>C (p.Gly1379=)
c.3822T>C (p.Gly1274=)
c.1719T>C (p.Gly573=)
c.4161T>C (p.Gly1387=)
c.4152T>C (p.Gly1384=)
c.4143T>C (p.Gly1381=)
c.2481T>C (p.Gly827=)
Xg.108681818T>GCA517923828COL4A5c.4146T>G (p.Gly1382=)
c.4128T>G (p.Gly1376=)
n.640T>G
n.549T>G
c.4137T>G (p.Gly1379=)
c.3822T>G (p.Gly1274=)
c.1719T>G (p.Gly573=)
c.4161T>G (p.Gly1387=)
c.4152T>G (p.Gly1384=)
c.4143T>G (p.Gly1381=)
c.2481T>G (p.Gly827=)
Xg.108681819C>ACA413852140COL4A5c.4147C>A (p.Pro1383Thr)
c.4129C>A (p.Pro1377Thr)
n.641C>A
n.550C>A
c.4138C>A (p.Pro1380Thr)
c.3823C>A (p.Pro1275Thr)
c.1720C>A (p.Pro574Thr)
c.4162C>A (p.Pro1388Thr)
c.4153C>A (p.Pro1385Thr)
c.4144C>A (p.Pro1382Thr)
c.2482C>A (p.Pro828Thr)
Xg.108681819C>GCA413852141COL4A5c.4147C>G (p.Pro1383Ala)
c.4129C>G (p.Pro1377Ala)
n.641C>G
n.550C>G
c.4138C>G (p.Pro1380Ala)
c.3823C>G (p.Pro1275Ala)
c.1720C>G (p.Pro574Ala)
c.4162C>G (p.Pro1388Ala)
c.4153C>G (p.Pro1385Ala)
c.4144C>G (p.Pro1382Ala)
c.2482C>G (p.Pro828Ala)
Xg.108681819C>TCA413852142COL4A5c.4147C>T (p.Pro1383Ser)
c.4129C>T (p.Pro1377Ser)
n.641C>T
n.550C>T
c.4138C>T (p.Pro1380Ser)
c.3823C>T (p.Pro1275Ser)
c.1720C>T (p.Pro574Ser)
c.4162C>T (p.Pro1388Ser)
c.4153C>T (p.Pro1385Ser)
c.4144C>T (p.Pro1382Ser)
c.2482C>T (p.Pro828Ser)
Xg.108681820C>ACA10489297COL4A5c.4148C>A (p.Pro1383His)
c.4130C>A (p.Pro1377His)
n.642C>A
n.551C>A
c.4139C>A (p.Pro1380His)
c.3824C>A (p.Pro1275His)
c.1721C>A (p.Pro574His)
c.4163C>A (p.Pro1388His)
c.4154C>A (p.Pro1385His)
c.4145C>A (p.Pro1382His)
c.2483C>A (p.Pro828His)
 dbSNP ExAC gnomAD v3 gnomAD v4
Xg.108681820C=CA2450717229COL4A5c.4148C= (p.Pro1383=)
c.4130C= (p.Pro1377=)
n.642C=
n.551C=
c.4139C= (p.Pro1380=)
c.3824C= (p.Pro1275=)
c.1721C= (p.Pro574=)
c.4163C= (p.Pro1388=)
c.4154C= (p.Pro1385=)
c.4145C= (p.Pro1382=)
c.2483C= (p.Pro828=)
Xg.108681820C>GCA413852145COL4A5c.4148C>G (p.Pro1383Arg)
c.4130C>G (p.Pro1377Arg)
n.642C>G
n.551C>G
c.4139C>G (p.Pro1380Arg)
c.3824C>G (p.Pro1275Arg)
c.1721C>G (p.Pro574Arg)
c.4163C>G (p.Pro1388Arg)
c.4154C>G (p.Pro1385Arg)
c.4145C>G (p.Pro1382Arg)
c.2483C>G (p.Pro828Arg)
 gnomAD v4
Xg.108681820C>TCA10489298COL4A5c.4148C>T (p.Pro1383Leu)
c.4130C>T (p.Pro1377Leu)
n.642C>T
n.551C>T
c.4139C>T (p.Pro1380Leu)
c.3824C>T (p.Pro1275Leu)
c.1721C>T (p.Pro574Leu)
c.4163C>T (p.Pro1388Leu)
c.4154C>T (p.Pro1385Leu)
c.4145C>T (p.Pro1382Leu)
c.2483C>T (p.Pro828Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108681821T>ACA517923830COL4A5c.4149T>A (p.Pro1383=)
c.4131T>A (p.Pro1377=)
n.643T>A
n.552T>A
c.4140T>A (p.Pro1380=)
c.3825T>A (p.Pro1275=)
c.1722T>A (p.Pro574=)
c.4164T>A (p.Pro1388=)
c.4155T>A (p.Pro1385=)
c.4146T>A (p.Pro1382=)
c.2484T>A (p.Pro828=)
Xg.108681821T>CCA517923831COL4A5c.4149T>C (p.Pro1383=)
c.4131T>C (p.Pro1377=)
n.643T>C
n.552T>C
c.4140T>C (p.Pro1380=)
c.3825T>C (p.Pro1275=)
c.1722T>C (p.Pro574=)
c.4164T>C (p.Pro1388=)
c.4155T>C (p.Pro1385=)
c.4146T>C (p.Pro1382=)
c.2484T>C (p.Pro828=)
Xg.108681821T>GCA517923832COL4A5c.4149T>G (p.Pro1383=)
c.4131T>G (p.Pro1377=)
n.643T>G
n.552T>G
c.4140T>G (p.Pro1380=)
c.3825T>G (p.Pro1275=)
c.1722T>G (p.Pro574=)
c.4164T>G (p.Pro1388=)
c.4155T>G (p.Pro1385=)
c.4146T>G (p.Pro1382=)
c.2484T>G (p.Pro828=)
Xg.108681822C>ACA413852152COL4A5c.4150C>A (p.Pro1384Thr)
c.4132C>A (p.Pro1378Thr)
n.644C>A
n.553C>A
c.4141C>A (p.Pro1381Thr)
c.3826C>A (p.Pro1276Thr)
c.1723C>A (p.Pro575Thr)
c.4165C>A (p.Pro1389Thr)
c.4156C>A (p.Pro1386Thr)
c.4147C>A (p.Pro1383Thr)
c.2485C>A (p.Pro829Thr)
Xg.108681822C>GCA413852149COL4A5c.4150C>G (p.Pro1384Ala)
c.4132C>G (p.Pro1378Ala)
n.644C>G
n.553C>G
c.4141C>G (p.Pro1381Ala)
c.3826C>G (p.Pro1276Ala)
c.1723C>G (p.Pro575Ala)
c.4165C>G (p.Pro1389Ala)
c.4156C>G (p.Pro1386Ala)
c.4147C>G (p.Pro1383Ala)
c.2485C>G (p.Pro829Ala)
 gnomAD v4
Xg.108681822C>TCA413852148COL4A5c.4150C>T (p.Pro1384Ser)
c.4132C>T (p.Pro1378Ser)
n.644C>T
n.553C>T
c.4141C>T (p.Pro1381Ser)
c.3826C>T (p.Pro1276Ser)
c.1723C>T (p.Pro575Ser)
c.4165C>T (p.Pro1389Ser)
c.4156C>T (p.Pro1386Ser)
c.4147C>T (p.Pro1383Ser)
c.2485C>T (p.Pro829Ser)
Xg.108681823C>ACA413852153COL4A5c.4151C>A (p.Pro1384Gln)
c.4133C>A (p.Pro1378Gln)
n.645C>A
n.554C>A
c.4142C>A (p.Pro1381Gln)
c.3827C>A (p.Pro1276Gln)
c.1724C>A (p.Pro575Gln)
c.4166C>A (p.Pro1389Gln)
c.4157C>A (p.Pro1386Gln)
c.4148C>A (p.Pro1383Gln)
c.2486C>A (p.Pro829Gln)
Xg.108681823C>GCA413852154COL4A5c.4151C>G (p.Pro1384Arg)
c.4133C>G (p.Pro1378Arg)
n.645C>G
n.554C>G
c.4142C>G (p.Pro1381Arg)
c.3827C>G (p.Pro1276Arg)
c.1724C>G (p.Pro575Arg)
c.4166C>G (p.Pro1389Arg)
c.4157C>G (p.Pro1386Arg)
c.4148C>G (p.Pro1383Arg)
c.2486C>G (p.Pro829Arg)
Xg.108681823C>TCA413852155COL4A5c.4151C>T (p.Pro1384Leu)
c.4133C>T (p.Pro1378Leu)
n.645C>T
n.554C>T
c.4142C>T (p.Pro1381Leu)
c.3827C>T (p.Pro1276Leu)
c.1724C>T (p.Pro575Leu)
c.4166C>T (p.Pro1389Leu)
c.4157C>T (p.Pro1386Leu)
c.4148C>T (p.Pro1383Leu)
c.2486C>T (p.Pro829Leu)
Xg.108681823_108681827delinsCAGGACA2450717230COL4A5c.4151_4155delinsCAGGA (p.Pro1384=)
c.4133_4137delinsCAGGA (p.Pro1378=)
n.645_649delinsCAGGA
n.554_558delinsCAGGA
c.4142_4146delinsCAGGA (p.Pro1381=)
c.3827_3831delinsCAGGA (p.Pro1276=)
c.1724_1728delinsCAGGA (p.Pro575=)
c.4166_4170delinsCAGGA (p.Pro1389=)
c.4157_4161delinsCAGGA (p.Pro1386=)
c.4148_4152delinsCAGGA (p.Pro1383=)
c.2486_2490delinsCAGGA (p.Pro829=)
Xg.108681824A>CCA517923833COL4A5c.4152A>C (p.Pro1384=)
c.4134A>C (p.Pro1378=)
n.646A>C
n.555A>C
c.4143A>C (p.Pro1381=)
c.3828A>C (p.Pro1276=)
c.1725A>C (p.Pro575=)
c.4167A>C (p.Pro1389=)
c.4158A>C (p.Pro1386=)
c.4149A>C (p.Pro1383=)
c.2487A>C (p.Pro829=)
Xg.108681824A>GCA517923834COL4A5c.4152A>G (p.Pro1384=)
c.4134A>G (p.Pro1378=)
n.646A>G
n.555A>G
c.4143A>G (p.Pro1381=)
c.3828A>G (p.Pro1276=)
c.1725A>G (p.Pro575=)
c.4167A>G (p.Pro1389=)
c.4158A>G (p.Pro1386=)
c.4149A>G (p.Pro1383=)
c.2487A>G (p.Pro829=)
Xg.108681824A>TCA517923835COL4A5c.4152A>T (p.Pro1384=)
c.4134A>T (p.Pro1378=)
n.646A>T
n.555A>T
c.4143A>T (p.Pro1381=)
c.3828A>T (p.Pro1276=)
c.1725A>T (p.Pro575=)
c.4167A>T (p.Pro1389=)
c.4158A>T (p.Pro1386=)
c.4149A>T (p.Pro1383=)
c.2487A>T (p.Pro829=)
Xg.108681825_108681828delCA869823025COL4A5c.4153_4156del (p.Gly1385SerfsTer7)
c.4135_4138del (p.Gly1379SerfsTer7)
n.647_650del
n.556_559del
c.4144_4147del (p.Gly1382SerfsTer7)
c.3829_3832del (p.Gly1277SerfsTer7)
c.1726_1729del (p.Gly576SerfsTer7)
c.4168_4171del (p.Gly1390SerfsTer7)
c.4159_4162del (p.Gly1387SerfsTer7)
c.4150_4153del (p.Gly1384SerfsTer7)
c.2488_2491del (p.Gly830SerfsTer7)
 dbSNP
Xg.108681825G>ACA413852157COL4A5c.4153G>A (p.Gly1385Arg)
c.4135G>A (p.Gly1379Arg)
n.647G>A
n.556G>A
c.4144G>A (p.Gly1382Arg)
c.3829G>A (p.Gly1277Arg)
c.1726G>A (p.Gly576Arg)
c.4168G>A (p.Gly1390Arg)
c.4159G>A (p.Gly1387Arg)
c.4150G>A (p.Gly1384Arg)
c.2488G>A (p.Gly830Arg)
Xg.108681825G>CCA413852159COL4A5c.4153G>C (p.Gly1385Arg)
c.4135G>C (p.Gly1379Arg)
n.647G>C
n.556G>C
c.4144G>C (p.Gly1382Arg)
c.3829G>C (p.Gly1277Arg)
c.1726G>C (p.Gly576Arg)
c.4168G>C (p.Gly1390Arg)
c.4159G>C (p.Gly1387Arg)
c.4150G>C (p.Gly1384Arg)
c.2488G>C (p.Gly830Arg)
Xg.108681825G>TCA413852161COL4A5c.4153G>T (p.Gly1385Ter)
c.4135G>T (p.Gly1379Ter)
n.647G>T
n.556G>T
c.4144G>T (p.Gly1382Ter)
c.3829G>T (p.Gly1277Ter)
c.1726G>T (p.Gly576Ter)
c.4168G>T (p.Gly1390Ter)
c.4159G>T (p.Gly1387Ter)
c.4150G>T (p.Gly1384Ter)
c.2488G>T (p.Gly830Ter)
Xg.108681826G>ACA413852168COL4A5c.4154G>A (p.Gly1385Glu)
c.4136G>A (p.Gly1379Glu)
n.648G>A
n.557G>A
c.4145G>A (p.Gly1382Glu)
c.3830G>A (p.Gly1277Glu)
c.1727G>A (p.Gly576Glu)
c.4169G>A (p.Gly1390Glu)
c.4160G>A (p.Gly1387Glu)
c.4151G>A (p.Gly1384Glu)
c.2489G>A (p.Gly830Glu)
Xg.108681826G>CCA413852173COL4A5c.4154G>C (p.Gly1385Ala)
c.4136G>C (p.Gly1379Ala)
n.648G>C
n.557G>C
c.4145G>C (p.Gly1382Ala)
c.3830G>C (p.Gly1277Ala)
c.1727G>C (p.Gly576Ala)
c.4169G>C (p.Gly1390Ala)
c.4160G>C (p.Gly1387Ala)
c.4151G>C (p.Gly1384Ala)
c.2489G>C (p.Gly830Ala)
Xg.108681826G=CA2450717231COL4A5c.4154G= (p.Gly1385=)
c.4136G= (p.Gly1379=)
n.648G=
n.557G=
c.4145G= (p.Gly1382=)
c.3830G= (p.Gly1277=)
c.1727G= (p.Gly576=)
c.4169G= (p.Gly1390=)
c.4160G= (p.Gly1387=)
c.4151G= (p.Gly1384=)
c.2489G= (p.Gly830=)
Xg.108681826G>TCA258987COL4A5c.4154G>T (p.Gly1385Val)
c.4136G>T (p.Gly1379Val)
n.648G>T
n.557G>T
c.4145G>T (p.Gly1382Val)
c.3830G>T (p.Gly1277Val)
c.1727G>T (p.Gly576Val)
c.4169G>T (p.Gly1390Val)
c.4160G>T (p.Gly1387Val)
c.4151G>T (p.Gly1384Val)
c.2489G>T (p.Gly830Val)
 dbSNP
Xg.108681826_108681829delinsGAATCA2450717232COL4A5c.4154_4157delinsGAAT (p.Gly1385=)
c.4136_4139delinsGAAT (p.Gly1379=)
n.648_651delinsGAAT
n.557_560delinsGAAT
c.4145_4148delinsGAAT (p.Gly1382=)
c.3830_3833delinsGAAT (p.Gly1277=)
c.1727_1730delinsGAAT (p.Gly576=)
c.4169_4172delinsGAAT (p.Gly1390=)
c.4160_4163delinsGAAT (p.Gly1387=)
c.4151_4154delinsGAAT (p.Gly1384=)
c.2489_2492delinsGAAT (p.Gly830=)
Xg.108681827A=CA2450717233COL4A5c.4155A= (p.Gly1385=)
c.4137A= (p.Gly1379=)
n.649A=
n.558A=
c.4146A= (p.Gly1382=)
c.3831A= (p.Gly1277=)
c.1728A= (p.Gly576=)
c.4170A= (p.Gly1390=)
c.4161A= (p.Gly1387=)
c.4152A= (p.Gly1384=)
c.2490A= (p.Gly830=)
Xg.108681827A>CCA517923836COL4A5c.4155A>C (p.Gly1385=)
c.4137A>C (p.Gly1379=)
n.649A>C
n.558A>C
c.4146A>C (p.Gly1382=)
c.3831A>C (p.Gly1277=)
c.1728A>C (p.Gly576=)
c.4170A>C (p.Gly1390=)
c.4161A>C (p.Gly1387=)
c.4152A>C (p.Gly1384=)
c.2490A>C (p.Gly830=)
Xg.108681827A>GCA517923837COL4A5c.4155A>G (p.Gly1385=)
c.4137A>G (p.Gly1379=)
n.649A>G
n.558A>G
c.4146A>G (p.Gly1382=)
c.3831A>G (p.Gly1277=)
c.1728A>G (p.Gly576=)
c.4170A>G (p.Gly1390=)
c.4161A>G (p.Gly1387=)
c.4152A>G (p.Gly1384=)
c.2490A>G (p.Gly830=)
 dbSNP
Xg.108681827A>TCA517923838COL4A5c.4155A>T (p.Gly1385=)
c.4137A>T (p.Gly1379=)
n.649A>T
n.558A>T
c.4146A>T (p.Gly1382=)
c.3831A>T (p.Gly1277=)
c.1728A>T (p.Gly576=)
c.4170A>T (p.Gly1390=)
c.4161A>T (p.Gly1387=)
c.4152A>T (p.Gly1384=)
c.2490A>T (p.Gly830=)
Xg.108681827_108681829delCA891863094COL4A5c.4155_4157del (p.Ile1386del)
c.4137_4139del (p.Ile1380del)
n.649_651del
n.558_560del
c.4146_4148del (p.Ile1383del)
c.3831_3833del (p.Ile1278del)
c.1728_1730del (p.Ile577del)
c.4170_4172del (p.Ile1391del)
c.4161_4163del (p.Ile1388del)
c.4152_4154del (p.Ile1385del)
c.2490_2492del (p.Ile831del)
 ClinVar dbSNP
Xg.108681828A>CCA413852179COL4A5c.4156A>C (p.Ile1386Leu)
c.4138A>C (p.Ile1380Leu)
n.650A>C
n.559A>C
c.4147A>C (p.Ile1383Leu)
c.3832A>C (p.Ile1278Leu)
c.1729A>C (p.Ile577Leu)
c.4171A>C (p.Ile1391Leu)
c.4162A>C (p.Ile1388Leu)
c.4153A>C (p.Ile1385Leu)
c.2491A>C (p.Ile831Leu)
Xg.108681828A>GCA413852181COL4A5c.4156A>G (p.Ile1386Val)
c.4138A>G (p.Ile1380Val)
n.650A>G
n.559A>G
c.4147A>G (p.Ile1383Val)
c.3832A>G (p.Ile1278Val)
c.1729A>G (p.Ile577Val)
c.4171A>G (p.Ile1391Val)
c.4162A>G (p.Ile1388Val)
c.4153A>G (p.Ile1385Val)
c.2491A>G (p.Ile831Val)
Xg.108681828A>TCA413852183COL4A5c.4156A>T (p.Ile1386Phe)
c.4138A>T (p.Ile1380Phe)
n.650A>T
n.559A>T
c.4147A>T (p.Ile1383Phe)
c.3832A>T (p.Ile1278Phe)
c.1729A>T (p.Ile577Phe)
c.4171A>T (p.Ile1391Phe)
c.4162A>T (p.Ile1388Phe)
c.4153A>T (p.Ile1385Phe)
c.2491A>T (p.Ile831Phe)
Xg.108681829T>ACA413852185COL4A5c.4157T>A (p.Ile1386Asn)
c.4139T>A (p.Ile1380Asn)
n.651T>A
n.560T>A
c.4148T>A (p.Ile1383Asn)
c.3833T>A (p.Ile1278Asn)
c.1730T>A (p.Ile577Asn)
c.4172T>A (p.Ile1391Asn)
c.4163T>A (p.Ile1388Asn)
c.4154T>A (p.Ile1385Asn)
c.2492T>A (p.Ile831Asn)
Xg.108681829T>CCA413852191COL4A5c.4157T>C (p.Ile1386Thr)
c.4139T>C (p.Ile1380Thr)
n.651T>C
n.560T>C
c.4148T>C (p.Ile1383Thr)
c.3833T>C (p.Ile1278Thr)
c.1730T>C (p.Ile577Thr)
c.4172T>C (p.Ile1391Thr)
c.4163T>C (p.Ile1388Thr)
c.4154T>C (p.Ile1385Thr)
c.2492T>C (p.Ile831Thr)
Xg.108681829T>GCA413852187COL4A5c.4157T>G (p.Ile1386Ser)
c.4139T>G (p.Ile1380Ser)
n.651T>G
n.560T>G
c.4148T>G (p.Ile1383Ser)
c.3833T>G (p.Ile1278Ser)
c.1730T>G (p.Ile577Ser)
c.4172T>G (p.Ile1391Ser)
c.4163T>G (p.Ile1388Ser)
c.4154T>G (p.Ile1385Ser)
c.2492T>G (p.Ile831Ser)
 gnomAD v4
Xg.108681830C>ACA517923839COL4A5c.4158C>A (p.Ile1386=)
c.4140C>A (p.Ile1380=)
n.652C>A
n.561C>A
c.4149C>A (p.Ile1383=)
c.3834C>A (p.Ile1278=)
c.1731C>A (p.Ile577=)
c.4173C>A (p.Ile1391=)
c.4164C>A (p.Ile1388=)
c.4155C>A (p.Ile1385=)
c.2493C>A (p.Ile831=)
Xg.108681830C=CA2450717234COL4A5c.4158C= (p.Ile1386=)
c.4140C= (p.Ile1380=)
n.652C=
n.561C=
c.4149C= (p.Ile1383=)
c.3834C= (p.Ile1278=)
c.1731C= (p.Ile577=)
c.4173C= (p.Ile1391=)
c.4164C= (p.Ile1388=)
c.4155C= (p.Ile1385=)
c.2493C= (p.Ile831=)
Xg.108681830C>GCA413852196COL4A5c.4158C>G (p.Ile1386Met)
c.4140C>G (p.Ile1380Met)
n.652C>G
n.561C>G
c.4149C>G (p.Ile1383Met)
c.3834C>G (p.Ile1278Met)
c.1731C>G (p.Ile577Met)
c.4173C>G (p.Ile1391Met)
c.4164C>G (p.Ile1388Met)
c.4155C>G (p.Ile1385Met)
c.2493C>G (p.Ile831Met)
Xg.108681830C>TCA517923840COL4A5c.4158C>T (p.Ile1386=)
c.4140C>T (p.Ile1380=)
n.652C>T
n.561C>T
c.4149C>T (p.Ile1383=)
c.3834C>T (p.Ile1278=)
c.1731C>T (p.Ile577=)
c.4173C>T (p.Ile1391=)
c.4164C>T (p.Ile1388=)
c.4155C>T (p.Ile1385=)
c.2493C>T (p.Ile831=)
 COSMIC COSMIC
Xg.108681830_108681842delinsCCCTGGCCAGCCTCA2450717235COL4A5c.4158_4170delinsCCCTGGCCAGCCT (p.Ile1386=)
c.4140_4152delinsCCCTGGCCAGCCT (p.Ile1380=)
n.652_664delinsCCCTGGCCAGCCT
n.561_573delinsCCCTGGCCAGCCT
c.4149_4161delinsCCCTGGCCAGCCT (p.Ile1383=)
c.3834_3846delinsCCCTGGCCAGCCT (p.Ile1278=)
c.1731_1743delinsCCCTGGCCAGCCT (p.Ile577=)
c.4173_4185delinsCCCTGGCCAGCCT (p.Ile1391=)
c.4164_4176delinsCCCTGGCCAGCCT (p.Ile1388=)
c.4155_4167delinsCCCTGGCCAGCCT (p.Ile1385=)
c.2493_2505delinsCCCTGGCCAGCCT (p.Ile831=)
Xg.108681831C>ACA413852203COL4A5c.4159C>A (p.Pro1387Thr)
c.4141C>A (p.Pro1381Thr)
n.653C>A
n.562C>A
c.4150C>A (p.Pro1384Thr)
c.3835C>A (p.Pro1279Thr)
c.1732C>A (p.Pro578Thr)
c.4174C>A (p.Pro1392Thr)
c.4165C>A (p.Pro1389Thr)
c.4156C>A (p.Pro1386Thr)
c.2494C>A (p.Pro832Thr)
Xg.108681831C>GCA413852200COL4A5c.4159C>G (p.Pro1387Ala)
c.4141C>G (p.Pro1381Ala)
n.653C>G
n.562C>G
c.4150C>G (p.Pro1384Ala)
c.3835C>G (p.Pro1279Ala)
c.1732C>G (p.Pro578Ala)
c.4174C>G (p.Pro1392Ala)
c.4165C>G (p.Pro1389Ala)
c.4156C>G (p.Pro1386Ala)
c.2494C>G (p.Pro832Ala)
Xg.108681831C>TCA413852206COL4A5c.4159C>T (p.Pro1387Ser)
c.4141C>T (p.Pro1381Ser)
n.653C>T
n.562C>T
c.4150C>T (p.Pro1384Ser)
c.3835C>T (p.Pro1279Ser)
c.1732C>T (p.Pro578Ser)
c.4174C>T (p.Pro1392Ser)
c.4165C>T (p.Pro1389Ser)
c.4156C>T (p.Pro1386Ser)
c.2494C>T (p.Pro832Ser)
Xg.108681833_108681834insTCCTCA334055348COL4A5c.4161_4162insTCCT (p.Gly1388SerfsTer?)
c.4143_4144insTCCT (p.Gly1382SerfsTer?)
n.655_656insTCCT
n.564_565insTCCT
c.4152_4153insTCCT (p.Gly1385SerfsTer?)
c.3837_3838insTCCT (p.Gly1280SerfsTer?)
c.1734_1735insTCCT (p.Gly579SerfsTer?)
c.4176_4177insTCCT (p.Gly1393SerfsTer?)
c.4167_4168insTCCT (p.Gly1390SerfsTer?)
c.4158_4159insTCCT (p.Gly1387SerfsTer?)
c.2496_2497insTCCT (p.Gly833SerfsTer?)
 dbSNP
Xg.108681831_108681842delCA658824368COL4A5c.4159_4170del (p.Pro1387_Pro1390del)
c.4141_4152del (p.Pro1381_Pro1384del)
n.653_664del
n.562_573del
c.4150_4161del (p.Pro1384_Pro1387del)
c.3835_3846del (p.Pro1279_Pro1282del)
c.1732_1743del (p.Pro578_Pro581del)
c.4174_4185del (p.Pro1392_Pro1395del)
c.4165_4176del (p.Pro1389_Pro1392del)
c.4156_4167del (p.Pro1386_Pro1389del)
c.2494_2505del (p.Pro832_Pro835del)
 ClinVar dbSNP
Xg.108681832C>ACA413852214COL4A5c.4160C>A (p.Pro1387His)
c.4142C>A (p.Pro1381His)
n.654C>A
n.563C>A
c.4151C>A (p.Pro1384His)
c.3836C>A (p.Pro1279His)
c.1733C>A (p.Pro578His)
c.4175C>A (p.Pro1392His)
c.4166C>A (p.Pro1389His)
c.4157C>A (p.Pro1386His)
c.2495C>A (p.Pro832His)
Xg.108681832C=CA2450717236COL4A5c.4160C= (p.Pro1387=)
c.4142C= (p.Pro1381=)
n.654C=
n.563C=
c.4151C= (p.Pro1384=)
c.3836C= (p.Pro1279=)
c.1733C= (p.Pro578=)
c.4175C= (p.Pro1392=)
c.4166C= (p.Pro1389=)
c.4157C= (p.Pro1386=)
c.2495C= (p.Pro832=)
Xg.108681832C>GCA413852217COL4A5c.4160C>G (p.Pro1387Arg)
c.4142C>G (p.Pro1381Arg)
n.654C>G
n.563C>G
c.4151C>G (p.Pro1384Arg)
c.3836C>G (p.Pro1279Arg)
c.1733C>G (p.Pro578Arg)
c.4175C>G (p.Pro1392Arg)
c.4166C>G (p.Pro1389Arg)
c.4157C>G (p.Pro1386Arg)
c.2495C>G (p.Pro832Arg)
Xg.108681832C>TCA10489299COL4A5c.4160C>T (p.Pro1387Leu)
c.4142C>T (p.Pro1381Leu)
n.654C>T
n.563C>T
c.4151C>T (p.Pro1384Leu)
c.3836C>T (p.Pro1279Leu)
c.1733C>T (p.Pro578Leu)
c.4175C>T (p.Pro1392Leu)
c.4166C>T (p.Pro1389Leu)
c.4157C>T (p.Pro1386Leu)
c.2495C>T (p.Pro832Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108681833T>ACA517923841COL4A5c.4161T>A (p.Pro1387=)
c.4143T>A (p.Pro1381=)
n.655T>A
n.564T>A
c.4152T>A (p.Pro1384=)
c.3837T>A (p.Pro1279=)
c.1734T>A (p.Pro578=)
c.4176T>A (p.Pro1392=)
c.4167T>A (p.Pro1389=)
c.4158T>A (p.Pro1386=)
c.2496T>A (p.Pro832=)
Xg.108681833T>CCA517923843COL4A5c.4161T>C (p.Pro1387=)
c.4143T>C (p.Pro1381=)
n.655T>C
n.564T>C
c.4152T>C (p.Pro1384=)
c.3837T>C (p.Pro1279=)
c.1734T>C (p.Pro578=)
c.4176T>C (p.Pro1392=)
c.4167T>C (p.Pro1389=)
c.4158T>C (p.Pro1386=)
c.2496T>C (p.Pro832=)
 gnomAD v4
Xg.108681833T>GCA517923842COL4A5c.4161T>G (p.Pro1387=)
c.4143T>G (p.Pro1381=)
n.655T>G
n.564T>G
c.4152T>G (p.Pro1384=)
c.3837T>G (p.Pro1279=)
c.1734T>G (p.Pro578=)
c.4176T>G (p.Pro1392=)
c.4167T>G (p.Pro1389=)
c.4158T>G (p.Pro1386=)
c.2496T>G (p.Pro832=)
Xg.108681834G>ACA413852220COL4A5c.4162G>A (p.Gly1388Ser)
c.4144G>A (p.Gly1382Ser)
n.656G>A
n.565G>A
c.4153G>A (p.Gly1385Ser)
c.3838G>A (p.Gly1280Ser)
c.1735G>A (p.Gly579Ser)
c.4177G>A (p.Gly1393Ser)
c.4168G>A (p.Gly1390Ser)
c.4159G>A (p.Gly1387Ser)
c.2497G>A (p.Gly833Ser)
 ClinVar gnomAD v4
Xg.108681834G>CCA413852221COL4A5c.4162G>C (p.Gly1388Arg)
c.4144G>C (p.Gly1382Arg)
n.656G>C
n.565G>C
c.4153G>C (p.Gly1385Arg)
c.3838G>C (p.Gly1280Arg)
c.1735G>C (p.Gly579Arg)
c.4177G>C (p.Gly1393Arg)
c.4168G>C (p.Gly1390Arg)
c.4159G>C (p.Gly1387Arg)
c.2497G>C (p.Gly833Arg)
Xg.108681834G>TCA413852222COL4A5c.4162G>T (p.Gly1388Cys)
c.4144G>T (p.Gly1382Cys)
n.656G>T
n.565G>T
c.4153G>T (p.Gly1385Cys)
c.3838G>T (p.Gly1280Cys)
c.1735G>T (p.Gly579Cys)
c.4177G>T (p.Gly1393Cys)
c.4168G>T (p.Gly1390Cys)
c.4159G>T (p.Gly1387Cys)
c.2497G>T (p.Gly833Cys)
Xg.108681835G>ACA413852224COL4A5c.4163G>A (p.Gly1388Asp)
c.4145G>A (p.Gly1382Asp)
n.657G>A
n.566G>A
c.4154G>A (p.Gly1385Asp)
c.3839G>A (p.Gly1280Asp)
c.1736G>A (p.Gly579Asp)
c.4178G>A (p.Gly1393Asp)
c.4169G>A (p.Gly1390Asp)
c.4160G>A (p.Gly1387Asp)
c.2498G>A (p.Gly833Asp)
 gnomAD v4
Xg.108681835G>CCA413852225COL4A5c.4163G>C (p.Gly1388Ala)
c.4145G>C (p.Gly1382Ala)
n.657G>C
n.566G>C
c.4154G>C (p.Gly1385Ala)
c.3839G>C (p.Gly1280Ala)
c.1736G>C (p.Gly579Ala)
c.4178G>C (p.Gly1393Ala)
c.4169G>C (p.Gly1390Ala)
c.4160G>C (p.Gly1387Ala)
c.2498G>C (p.Gly833Ala)
Xg.108681835G>TCA413852229COL4A5c.4163G>T (p.Gly1388Val)
c.4145G>T (p.Gly1382Val)
n.657G>T
n.566G>T
c.4154G>T (p.Gly1385Val)
c.3839G>T (p.Gly1280Val)
c.1736G>T (p.Gly579Val)
c.4178G>T (p.Gly1393Val)
c.4169G>T (p.Gly1390Val)
c.4160G>T (p.Gly1387Val)
c.2498G>T (p.Gly833Val)
Xg.108681836C>ACA517923844COL4A5c.4164C>A (p.Gly1388=)
c.4146C>A (p.Gly1382=)
n.658C>A
n.567C>A
c.4155C>A (p.Gly1385=)
c.3840C>A (p.Gly1280=)
c.1737C>A (p.Gly579=)
c.4179C>A (p.Gly1393=)
c.4170C>A (p.Gly1390=)
c.4161C>A (p.Gly1387=)
c.2499C>A (p.Gly833=)
Xg.108681836C>GCA517923845COL4A5c.4164C>G (p.Gly1388=)
c.4146C>G (p.Gly1382=)
n.658C>G
n.567C>G
c.4155C>G (p.Gly1385=)
c.3840C>G (p.Gly1280=)
c.1737C>G (p.Gly579=)
c.4179C>G (p.Gly1393=)
c.4170C>G (p.Gly1390=)
c.4161C>G (p.Gly1387=)
c.2499C>G (p.Gly833=)
Xg.108681836C>TCA517923846COL4A5c.4164C>T (p.Gly1388=)
c.4146C>T (p.Gly1382=)
n.658C>T
n.567C>T
c.4155C>T (p.Gly1385=)
c.3840C>T (p.Gly1280=)
c.1737C>T (p.Gly579=)
c.4179C>T (p.Gly1393=)
c.4170C>T (p.Gly1390=)
c.4161C>T (p.Gly1387=)
c.2499C>T (p.Gly833=)
 COSMIC COSMIC
Xg.108681837C>ACA413852231COL4A5c.4165C>A (p.Gln1389Lys)
c.4147C>A (p.Gln1383Lys)
n.659C>A
n.568C>A
c.4156C>A (p.Gln1386Lys)
c.3841C>A (p.Gln1281Lys)
c.1738C>A (p.Gln580Lys)
c.4180C>A (p.Gln1394Lys)
c.4171C>A (p.Gln1391Lys)
c.4162C>A (p.Gln1388Lys)
c.2500C>A (p.Gln834Lys)
Xg.108681837C=CA2450717237COL4A5c.4165C= (p.Gln1389=)
c.4147C= (p.Gln1383=)
n.659C=
n.568C=
c.4156C= (p.Gln1386=)
c.3841C= (p.Gln1281=)
c.1738C= (p.Gln580=)
c.4180C= (p.Gln1394=)
c.4171C= (p.Gln1391=)
c.4162C= (p.Gln1388=)
c.2500C= (p.Gln834=)
Xg.108681837C>GCA413852233COL4A5c.4165C>G (p.Gln1389Glu)
c.4147C>G (p.Gln1383Glu)
n.659C>G
n.568C>G
c.4156C>G (p.Gln1386Glu)
c.3841C>G (p.Gln1281Glu)
c.1738C>G (p.Gln580Glu)
c.4180C>G (p.Gln1394Glu)
c.4171C>G (p.Gln1391Glu)
c.4162C>G (p.Gln1388Glu)
c.2500C>G (p.Gln834Glu)
Xg.108681837C>TCA258989COL4A5c.4165C>T (p.Gln1389Ter)
c.4147C>T (p.Gln1383Ter)
n.659C>T
n.568C>T
c.4156C>T (p.Gln1386Ter)
c.3841C>T (p.Gln1281Ter)
c.1738C>T (p.Gln580Ter)
c.4180C>T (p.Gln1394Ter)
c.4171C>T (p.Gln1391Ter)
c.4162C>T (p.Gln1388Ter)
c.2500C>T (p.Gln834Ter)
 ClinVar dbSNP
Xg.108681838A>CCA413852240COL4A5c.4166A>C (p.Gln1389Pro)
c.4148A>C (p.Gln1383Pro)
n.660A>C
n.569A>C
c.4157A>C (p.Gln1386Pro)
c.3842A>C (p.Gln1281Pro)
c.1739A>C (p.Gln580Pro)
c.4181A>C (p.Gln1394Pro)
c.4172A>C (p.Gln1391Pro)
c.4163A>C (p.Gln1388Pro)
c.2501A>C (p.Gln834Pro)
Xg.108681838A>GCA413852238COL4A5c.4166A>G (p.Gln1389Arg)
c.4148A>G (p.Gln1383Arg)
n.660A>G
n.569A>G
c.4157A>G (p.Gln1386Arg)
c.3842A>G (p.Gln1281Arg)
c.1739A>G (p.Gln580Arg)
c.4181A>G (p.Gln1394Arg)
c.4172A>G (p.Gln1391Arg)
c.4163A>G (p.Gln1388Arg)
c.2501A>G (p.Gln834Arg)
Xg.108681838A>TCA413852239COL4A5c.4166A>T (p.Gln1389Leu)
c.4148A>T (p.Gln1383Leu)
n.660A>T
n.569A>T
c.4157A>T (p.Gln1386Leu)
c.3842A>T (p.Gln1281Leu)
c.1739A>T (p.Gln580Leu)
c.4181A>T (p.Gln1394Leu)
c.4172A>T (p.Gln1391Leu)
c.4163A>T (p.Gln1388Leu)
c.2501A>T (p.Gln834Leu)
Xg.108681839G>ACA517923847COL4A5c.4167G>A (p.Gln1389=)
c.4149G>A (p.Gln1383=)
n.661G>A
n.570G>A
c.4158G>A (p.Gln1386=)
c.3843G>A (p.Gln1281=)
c.1740G>A (p.Gln580=)
c.4182G>A (p.Gln1394=)
c.4173G>A (p.Gln1391=)
c.4164G>A (p.Gln1388=)
c.2502G>A (p.Gln834=)
 gnomAD v4
Xg.108681839G>CCA413852245COL4A5c.4167G>C (p.Gln1389His)
c.4149G>C (p.Gln1383His)
n.661G>C
n.570G>C
c.4158G>C (p.Gln1386His)
c.3843G>C (p.Gln1281His)
c.1740G>C (p.Gln580His)
c.4182G>C (p.Gln1394His)
c.4173G>C (p.Gln1391His)
c.4164G>C (p.Gln1388His)
c.2502G>C (p.Gln834His)
Xg.108681839G>TCA413852248COL4A5c.4167G>T (p.Gln1389His)
c.4149G>T (p.Gln1383His)
n.661G>T
n.570G>T
c.4158G>T (p.Gln1386His)
c.3843G>T (p.Gln1281His)
c.1740G>T (p.Gln580His)
c.4182G>T (p.Gln1394His)
c.4173G>T (p.Gln1391His)
c.4164G>T (p.Gln1388His)
c.2502G>T (p.Gln834His)
Xg.108681840C>ACA413852251COL4A5c.4168C>A (p.Pro1390Thr)
c.4150C>A (p.Pro1384Thr)
n.662C>A
n.571C>A
c.4159C>A (p.Pro1387Thr)
c.3844C>A (p.Pro1282Thr)
c.1741C>A (p.Pro581Thr)
c.4183C>A (p.Pro1395Thr)
c.4174C>A (p.Pro1392Thr)
c.4165C>A (p.Pro1389Thr)
c.2503C>A (p.Pro835Thr)
Xg.108681840C>GCA413852252COL4A5c.4168C>G (p.Pro1390Ala)
c.4150C>G (p.Pro1384Ala)
n.662C>G
n.571C>G
c.4159C>G (p.Pro1387Ala)
c.3844C>G (p.Pro1282Ala)
c.1741C>G (p.Pro581Ala)
c.4183C>G (p.Pro1395Ala)
c.4174C>G (p.Pro1392Ala)
c.4165C>G (p.Pro1389Ala)
c.2503C>G (p.Pro835Ala)
Xg.108681840C>TCA413852254COL4A5c.4168C>T (p.Pro1390Ser)
c.4150C>T (p.Pro1384Ser)
n.662C>T
n.571C>T
c.4159C>T (p.Pro1387Ser)
c.3844C>T (p.Pro1282Ser)
c.1741C>T (p.Pro581Ser)
c.4183C>T (p.Pro1395Ser)
c.4174C>T (p.Pro1392Ser)
c.4165C>T (p.Pro1389Ser)
c.2503C>T (p.Pro835Ser)
 gnomAD v4
Xg.108681841delCA2573051218COL4A5c.4169del (p.Pro1390LeufsTer3)
c.4151del (p.Pro1384LeufsTer3)
n.663del
n.572del
c.4160del (p.Pro1387LeufsTer3)
c.3845del (p.Pro1282LeufsTer3)
c.1742del (p.Pro581LeufsTer3)
c.4184del (p.Pro1395LeufsTer3)
c.4175del (p.Pro1392LeufsTer3)
c.4166del (p.Pro1389LeufsTer3)
c.2504del (p.Pro835LeufsTer3)
Xg.108681841C>ACA413852256COL4A5c.4169C>A (p.Pro1390His)
c.4151C>A (p.Pro1384His)
n.663C>A
n.572C>A
c.4160C>A (p.Pro1387His)
c.3845C>A (p.Pro1282His)
c.1742C>A (p.Pro581His)
c.4184C>A (p.Pro1395His)
c.4175C>A (p.Pro1392His)
c.4166C>A (p.Pro1389His)
c.2504C>A (p.Pro835His)
Xg.108681841C>GCA413852260COL4A5c.4169C>G (p.Pro1390Arg)
c.4151C>G (p.Pro1384Arg)
n.663C>G
n.572C>G
c.4160C>G (p.Pro1387Arg)
c.3845C>G (p.Pro1282Arg)
c.1742C>G (p.Pro581Arg)
c.4184C>G (p.Pro1395Arg)
c.4175C>G (p.Pro1392Arg)
c.4166C>G (p.Pro1389Arg)
c.2504C>G (p.Pro835Arg)
Xg.108681841C>TCA413852262COL4A5c.4169C>T (p.Pro1390Leu)
c.4151C>T (p.Pro1384Leu)
n.663C>T
n.572C>T
c.4160C>T (p.Pro1387Leu)
c.3845C>T (p.Pro1282Leu)
c.1742C>T (p.Pro581Leu)
c.4184C>T (p.Pro1395Leu)
c.4175C>T (p.Pro1392Leu)
c.4166C>T (p.Pro1389Leu)
c.2504C>T (p.Pro835Leu)
Xg.108681842T>ACA517923848COL4A5c.4170T>A (p.Pro1390=)
c.4152T>A (p.Pro1384=)
n.664T>A
n.573T>A
c.4161T>A (p.Pro1387=)
c.3846T>A (p.Pro1282=)
c.1743T>A (p.Pro581=)
c.4185T>A (p.Pro1395=)
c.4176T>A (p.Pro1392=)
c.4167T>A (p.Pro1389=)
c.2505T>A (p.Pro835=)
Xg.108681842T>CCA517923849COL4A5c.4170T>C (p.Pro1390=)
c.4152T>C (p.Pro1384=)
n.664T>C
n.573T>C
c.4161T>C (p.Pro1387=)
c.3846T>C (p.Pro1282=)
c.1743T>C (p.Pro581=)
c.4185T>C (p.Pro1395=)
c.4176T>C (p.Pro1392=)
c.4167T>C (p.Pro1389=)
c.2505T>C (p.Pro835=)
Xg.108681842T>GCA517923850COL4A5c.4170T>G (p.Pro1390=)
c.4152T>G (p.Pro1384=)
n.664T>G
n.573T>G
c.4161T>G (p.Pro1387=)
c.3846T>G (p.Pro1282=)
c.1743T>G (p.Pro581=)
c.4185T>G (p.Pro1395=)
c.4176T>G (p.Pro1392=)
c.4167T>G (p.Pro1389=)
c.2505T>G (p.Pro835=)
Xg.108681843G>ACA413852265COL4A5c.4171G>A (p.Gly1391Arg)
c.4153G>A (p.Gly1385Arg)
n.665G>A
n.574G>A
c.4162G>A (p.Gly1388Arg)
c.3847G>A (p.Gly1283Arg)
c.1744G>A (p.Gly582Arg)
c.4186G>A (p.Gly1396Arg)
c.4177G>A (p.Gly1393Arg)
c.4168G>A (p.Gly1390Arg)
c.2506G>A (p.Gly836Arg)
Xg.108681843G>CCA413852266COL4A5c.4171G>C (p.Gly1391Arg)
c.4153G>C (p.Gly1385Arg)
n.665G>C
n.574G>C
c.4162G>C (p.Gly1388Arg)
c.3847G>C (p.Gly1283Arg)
c.1744G>C (p.Gly582Arg)
c.4186G>C (p.Gly1396Arg)
c.4177G>C (p.Gly1393Arg)
c.4168G>C (p.Gly1390Arg)
c.2506G>C (p.Gly836Arg)
Xg.108681843G>TCA413852270COL4A5c.4171G>T (p.Gly1391Trp)
c.4153G>T (p.Gly1385Trp)
n.665G>T
n.574G>T
c.4162G>T (p.Gly1388Trp)
c.3847G>T (p.Gly1283Trp)
c.1744G>T (p.Gly582Trp)
c.4186G>T (p.Gly1396Trp)
c.4177G>T (p.Gly1393Trp)
c.4168G>T (p.Gly1390Trp)
c.2506G>T (p.Gly836Trp)
Xg.108681844G>ACA413852279COL4A5c.4172G>A (p.Gly1391Glu)
c.4154G>A (p.Gly1385Glu)
n.666G>A
n.575G>A
c.4163G>A (p.Gly1388Glu)
c.3848G>A (p.Gly1283Glu)
c.1745G>A (p.Gly582Glu)
c.4187G>A (p.Gly1396Glu)
c.4178G>A (p.Gly1393Glu)
c.4169G>A (p.Gly1390Glu)
c.2507G>A (p.Gly836Glu)
Xg.108681844G>CCA413852281COL4A5c.4172G>C (p.Gly1391Ala)
c.4154G>C (p.Gly1385Ala)
n.666G>C
n.575G>C
c.4163G>C (p.Gly1388Ala)
c.3848G>C (p.Gly1283Ala)
c.1745G>C (p.Gly582Ala)
c.4187G>C (p.Gly1396Ala)
c.4178G>C (p.Gly1393Ala)
c.4169G>C (p.Gly1390Ala)
c.2507G>C (p.Gly836Ala)
Xg.108681844G=CA2450717238COL4A5c.4172G= (p.Gly1391=)
c.4154G= (p.Gly1385=)
n.666G=
n.575G=
c.4163G= (p.Gly1388=)
c.3848G= (p.Gly1283=)
c.1745G= (p.Gly582=)
c.4187G= (p.Gly1396=)
c.4178G= (p.Gly1393=)
c.4169G= (p.Gly1390=)
c.2507G= (p.Gly836=)
Xg.108681844G>TCA413852277COL4A5c.4172G>T (p.Gly1391Val)
c.4154G>T (p.Gly1385Val)
n.666G>T
n.575G>T
c.4163G>T (p.Gly1388Val)
c.3848G>T (p.Gly1283Val)
c.1745G>T (p.Gly582Val)
c.4187G>T (p.Gly1396Val)
c.4178G>T (p.Gly1393Val)
c.4169G>T (p.Gly1390Val)
c.2507G>T (p.Gly836Val)
 ClinVar dbSNP
Xg.108681845G>ACA517923851COL4A5c.4173G>A (p.Gly1391=)
c.4155G>A (p.Gly1385=)
n.667G>A
n.576G>A
c.4164G>A (p.Gly1388=)
c.3849G>A (p.Gly1283=)
c.1746G>A (p.Gly582=)
c.4188G>A (p.Gly1396=)
c.4179G>A (p.Gly1393=)
c.4170G>A (p.Gly1390=)
c.2508G>A (p.Gly836=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108681845G>CCA517923852COL4A5c.4173G>C (p.Gly1391=)
c.4155G>C (p.Gly1385=)
n.667G>C
n.576G>C
c.4164G>C (p.Gly1388=)
c.3849G>C (p.Gly1283=)
c.1746G>C (p.Gly582=)
c.4188G>C (p.Gly1396=)
c.4179G>C (p.Gly1393=)
c.4170G>C (p.Gly1390=)
c.2508G>C (p.Gly836=)
Xg.108681845G=CA2450717239COL4A5c.4173G= (p.Gly1391=)
c.4155G= (p.Gly1385=)
n.667G=
n.576G=
c.4164G= (p.Gly1388=)
c.3849G= (p.Gly1283=)
c.1746G= (p.Gly582=)
c.4188G= (p.Gly1396=)
c.4179G= (p.Gly1393=)
c.4170G= (p.Gly1390=)
c.2508G= (p.Gly836=)
Xg.108681845G>TCA517923853COL4A5c.4173G>T (p.Gly1391=)
c.4155G>T (p.Gly1385=)
n.667G>T
n.576G>T
c.4164G>T (p.Gly1388=)
c.3849G>T (p.Gly1283=)
c.1746G>T (p.Gly582=)
c.4188G>T (p.Gly1396=)
c.4179G>T (p.Gly1393=)
c.4170G>T (p.Gly1390=)
c.2508G>T (p.Gly836=)
Xg.108681846C>ACA413852284COL4A5c.4174C>A (p.Leu1392Ile)
c.4156C>A (p.Leu1386Ile)
n.668C>A
n.577C>A
c.4165C>A (p.Leu1389Ile)
c.3850C>A (p.Leu1284Ile)
c.1747C>A (p.Leu583Ile)
c.4189C>A (p.Leu1397Ile)
c.4180C>A (p.Leu1394Ile)
c.4171C>A (p.Leu1391Ile)
c.2509C>A (p.Leu837Ile)
Xg.108681846C>GCA413852293COL4A5c.4174C>G (p.Leu1392Val)
c.4156C>G (p.Leu1386Val)
n.668C>G
n.577C>G
c.4165C>G (p.Leu1389Val)
c.3850C>G (p.Leu1284Val)
c.1747C>G (p.Leu583Val)
c.4189C>G (p.Leu1397Val)
c.4180C>G (p.Leu1394Val)
c.4171C>G (p.Leu1391Val)
c.2509C>G (p.Leu837Val)
Xg.108681846C>TCA517923855COL4A5c.4174C>T (p.Leu1392=)
c.4156C>T (p.Leu1386=)
n.668C>T
n.577C>T
c.4165C>T (p.Leu1389=)
c.3850C>T (p.Leu1284=)
c.1747C>T (p.Leu583=)
c.4189C>T (p.Leu1397=)
c.4180C>T (p.Leu1394=)
c.4171C>T (p.Leu1391=)
c.2509C>T (p.Leu837=)
Xg.108681847T>ACA413852295COL4A5c.4175T>A (p.Leu1392Gln)
c.4157T>A (p.Leu1386Gln)
n.669T>A
n.578T>A
c.4166T>A (p.Leu1389Gln)
c.3851T>A (p.Leu1284Gln)
c.1748T>A (p.Leu583Gln)
c.4190T>A (p.Leu1397Gln)
c.4181T>A (p.Leu1394Gln)
c.4172T>A (p.Leu1391Gln)
c.2510T>A (p.Leu837Gln)
Xg.108681847T>CCA10489300COL4A5c.4175T>C (p.Leu1392Pro)
c.4157T>C (p.Leu1386Pro)
n.669T>C
n.578T>C
c.4166T>C (p.Leu1389Pro)
c.3851T>C (p.Leu1284Pro)
c.1748T>C (p.Leu583Pro)
c.4190T>C (p.Leu1397Pro)
c.4181T>C (p.Leu1394Pro)
c.4172T>C (p.Leu1391Pro)
c.2510T>C (p.Leu837Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108681847T>GCA413852297COL4A5c.4175T>G (p.Leu1392Arg)
c.4157T>G (p.Leu1386Arg)
n.669T>G
n.578T>G
c.4166T>G (p.Leu1389Arg)
c.3851T>G (p.Leu1284Arg)
c.1748T>G (p.Leu583Arg)
c.4190T>G (p.Leu1397Arg)
c.4181T>G (p.Leu1394Arg)
c.4172T>G (p.Leu1391Arg)
c.2510T>G (p.Leu837Arg)
Xg.108681847T=CA2450717240COL4A5c.4175T= (p.Leu1392=)
c.4157T= (p.Leu1386=)
n.669T=
n.578T=
c.4166T= (p.Leu1389=)
c.3851T= (p.Leu1284=)
c.1748T= (p.Leu583=)
c.4190T= (p.Leu1397=)
c.4181T= (p.Leu1394=)
c.4172T= (p.Leu1391=)
c.2510T= (p.Leu837=)
Xg.108681848A=CA2450717241COL4A5c.4176A= (p.Leu1392=)
c.4158A= (p.Leu1386=)
n.670A=
n.579A=
c.4167A= (p.Leu1389=)
c.3852A= (p.Leu1284=)
c.1749A= (p.Leu583=)
c.4191A= (p.Leu1397=)
c.4182A= (p.Leu1394=)
c.4173A= (p.Leu1391=)
c.2511A= (p.Leu837=)
Xg.108681848A>CCA517923856COL4A5c.4176A>C (p.Leu1392=)
c.4158A>C (p.Leu1386=)
n.670A>C
n.579A>C
c.4167A>C (p.Leu1389=)
c.3852A>C (p.Leu1284=)
c.1749A>C (p.Leu583=)
c.4191A>C (p.Leu1397=)
c.4182A>C (p.Leu1394=)
c.4173A>C (p.Leu1391=)
c.2511A>C (p.Leu837=)
Xg.108681848A>GCA517923857COL4A5c.4176A>G (p.Leu1392=)
c.4158A>G (p.Leu1386=)
n.670A>G
n.579A>G
c.4167A>G (p.Leu1389=)
c.3852A>G (p.Leu1284=)
c.1749A>G (p.Leu583=)
c.4191A>G (p.Leu1397=)
c.4182A>G (p.Leu1394=)
c.4173A>G (p.Leu1391=)
c.2511A>G (p.Leu837=)
 dbSNP
Xg.108681848A>TCA517923858COL4A5c.4176A>T (p.Leu1392=)
c.4158A>T (p.Leu1386=)
n.670A>T
n.579A>T
c.4167A>T (p.Leu1389=)
c.3852A>T (p.Leu1284=)
c.1749A>T (p.Leu583=)
c.4191A>T (p.Leu1397=)
c.4182A>T (p.Leu1394=)
c.4173A>T (p.Leu1391=)
c.2511A>T (p.Leu837=)
 COSMIC
Xg.108681849A>CCA413852299COL4A5c.4177A>C (p.Lys1393Gln)
c.4159A>C (p.Lys1387Gln)
n.671A>C
n.580A>C
c.4168A>C (p.Lys1390Gln)
c.3853A>C (p.Lys1285Gln)
c.1750A>C (p.Lys584Gln)
c.4192A>C (p.Lys1398Gln)
c.4183A>C (p.Lys1395Gln)
c.4174A>C (p.Lys1392Gln)
c.2512A>C (p.Lys838Gln)
Xg.108681849A>GCA413852300COL4A5c.4177A>G (p.Lys1393Glu)
c.4159A>G (p.Lys1387Glu)
n.671A>G
n.580A>G
c.4168A>G (p.Lys1390Glu)
c.3853A>G (p.Lys1285Glu)
c.1750A>G (p.Lys584Glu)
c.4192A>G (p.Lys1398Glu)
c.4183A>G (p.Lys1395Glu)
c.4174A>G (p.Lys1392Glu)
c.2512A>G (p.Lys838Glu)
Xg.108681849A>TCA413852303COL4A5c.4177A>T (p.Lys1393Ter)
c.4159A>T (p.Lys1387Ter)
n.671A>T
n.580A>T
c.4168A>T (p.Lys1390Ter)
c.3853A>T (p.Lys1285Ter)
c.1750A>T (p.Lys584Ter)
c.4192A>T (p.Lys1398Ter)
c.4183A>T (p.Lys1395Ter)
c.4174A>T (p.Lys1392Ter)
c.2512A>T (p.Lys838Ter)
Xg.108681850A=CA2450717242COL4A5c.4178A= (p.Lys1393=)
c.4160A= (p.Lys1387=)
n.672A=
n.581A=
c.4169A= (p.Lys1390=)
c.3854A= (p.Lys1285=)
c.1751A= (p.Lys584=)
c.4193A= (p.Lys1398=)
c.4184A= (p.Lys1395=)
c.4175A= (p.Lys1392=)
c.2513A= (p.Lys838=)
Xg.108681850A>CCA413852313COL4A5c.4178A>C (p.Lys1393Thr)
c.4160A>C (p.Lys1387Thr)
n.672A>C
n.581A>C
c.4169A>C (p.Lys1390Thr)
c.3854A>C (p.Lys1285Thr)
c.1751A>C (p.Lys584Thr)
c.4193A>C (p.Lys1398Thr)
c.4184A>C (p.Lys1395Thr)
c.4175A>C (p.Lys1392Thr)
c.2513A>C (p.Lys838Thr)
Xg.108681850A>GCA413852316COL4A5c.4178A>G (p.Lys1393Arg)
c.4160A>G (p.Lys1387Arg)
n.672A>G
n.581A>G
c.4169A>G (p.Lys1390Arg)
c.3854A>G (p.Lys1285Arg)
c.1751A>G (p.Lys584Arg)
c.4193A>G (p.Lys1398Arg)
c.4184A>G (p.Lys1395Arg)
c.4175A>G (p.Lys1392Arg)
c.2513A>G (p.Lys838Arg)
 gnomAD v4
Xg.108681850A>TCA413852317COL4A5c.4178A>T (p.Lys1393Met)
c.4160A>T (p.Lys1387Met)
n.672A>T
n.581A>T
c.4169A>T (p.Lys1390Met)
c.3854A>T (p.Lys1285Met)
c.1751A>T (p.Lys584Met)
c.4193A>T (p.Lys1398Met)
c.4184A>T (p.Lys1395Met)
c.4175A>T (p.Lys1392Met)
c.2513A>T (p.Lys838Met)
 dbSNP
Xg.108681851G>ACA517923859COL4A5c.4179G>A (p.Lys1393=)
c.4161G>A (p.Lys1387=)
n.673G>A
n.582G>A
c.4170G>A (p.Lys1390=)
c.3855G>A (p.Lys1285=)
c.1752G>A (p.Lys584=)
c.4194G>A (p.Lys1398=)
c.4185G>A (p.Lys1395=)
c.4176G>A (p.Lys1392=)
c.2514G>A (p.Lys838=)
Xg.108681851G>CCA413852318COL4A5c.4179G>C (p.Lys1393Asn)
c.4161G>C (p.Lys1387Asn)
n.673G>C
n.582G>C
c.4170G>C (p.Lys1390Asn)
c.3855G>C (p.Lys1285Asn)
c.1752G>C (p.Lys584Asn)
c.4194G>C (p.Lys1398Asn)
c.4185G>C (p.Lys1395Asn)
c.4176G>C (p.Lys1392Asn)
c.2514G>C (p.Lys838Asn)
Xg.108681851G=CA2450717243COL4A5c.4179G= (p.Lys1393=)
c.4161G= (p.Lys1387=)
n.673G=
n.582G=
c.4170G= (p.Lys1390=)
c.3855G= (p.Lys1285=)
c.1752G= (p.Lys584=)
c.4194G= (p.Lys1398=)
c.4185G= (p.Lys1395=)
c.4176G= (p.Lys1392=)
c.2514G= (p.Lys838=)
Xg.108681851G>TCA413852319COL4A5c.4179G>T (p.Lys1393Asn)
c.4161G>T (p.Lys1387Asn)
n.673G>T
n.582G>T
c.4170G>T (p.Lys1390Asn)
c.3855G>T (p.Lys1285Asn)
c.1752G>T (p.Lys584Asn)
c.4194G>T (p.Lys1398Asn)
c.4185G>T (p.Lys1395Asn)
c.4176G>T (p.Lys1392Asn)
c.2514G>T (p.Lys838Asn)
 gnomAD v4
Xg.108681851_108681852insTCCTCA258993COL4A5c.4179_4180insTCCT (p.Gly1394SerfsTer31)
c.4161_4162insTCCT (p.Gly1388SerfsTer31)
n.673_674insTCCT
n.582_583insTCCT
c.4170_4171insTCCT (p.Gly1391SerfsTer31)
c.3855_3856insTCCT (p.Gly1286SerfsTer31)
c.1752_1753insTCCT (p.Gly585SerfsTer31)
c.4194_4195insTCCT (p.Gly1399SerfsTer31)
c.4185_4186insTCCT (p.Gly1396SerfsTer31)
c.4176_4177insTCCT (p.Gly1393SerfsTer31)
c.2514_2515insTCCT (p.Gly839SerfsTer31)
 dbSNP
Xg.108681852G>ACA413852321COL4A5c.4180G>A (p.Gly1394Ser)
c.4162G>A (p.Gly1388Ser)
n.674G>A
n.583G>A
c.4171G>A (p.Gly1391Ser)
c.3856G>A (p.Gly1286Ser)
c.1753G>A (p.Gly585Ser)
c.4195G>A (p.Gly1399Ser)
c.4186G>A (p.Gly1396Ser)
c.4177G>A (p.Gly1393Ser)
c.2515G>A (p.Gly839Ser)
 dbSNP
Xg.108681852G>CCA413852323COL4A5c.4180G>C (p.Gly1394Arg)
c.4162G>C (p.Gly1388Arg)
n.674G>C
n.583G>C
c.4171G>C (p.Gly1391Arg)
c.3856G>C (p.Gly1286Arg)
c.1753G>C (p.Gly585Arg)
c.4195G>C (p.Gly1399Arg)
c.4186G>C (p.Gly1396Arg)
c.4177G>C (p.Gly1393Arg)
c.2515G>C (p.Gly839Arg)
 ClinVar dbSNP gnomAD v4
Xg.108681852G=CA2450717244COL4A5c.4180G= (p.Gly1394=)
c.4162G= (p.Gly1388=)
n.674G=
n.583G=
c.4171G= (p.Gly1391=)
c.3856G= (p.Gly1286=)
c.1753G= (p.Gly585=)
c.4195G= (p.Gly1399=)
c.4186G= (p.Gly1396=)
c.4177G= (p.Gly1393=)
c.2515G= (p.Gly839=)
Xg.108681852G>TCA413852320COL4A5c.4180G>T (p.Gly1394Cys)
c.4162G>T (p.Gly1388Cys)
n.674G>T
n.583G>T
c.4171G>T (p.Gly1391Cys)
c.3856G>T (p.Gly1286Cys)
c.1753G>T (p.Gly585Cys)
c.4195G>T (p.Gly1399Cys)
c.4186G>T (p.Gly1396Cys)
c.4177G>T (p.Gly1393Cys)
c.2515G>T (p.Gly839Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108681853G>ACA413852327COL4A5c.4181G>A (p.Gly1394Asp)
c.4163G>A (p.Gly1388Asp)
n.675G>A
n.584G>A
c.4172G>A (p.Gly1391Asp)
c.3857G>A (p.Gly1286Asp)
c.1754G>A (p.Gly585Asp)
c.4196G>A (p.Gly1399Asp)
c.4187G>A (p.Gly1396Asp)
c.4178G>A (p.Gly1393Asp)
c.2516G>A (p.Gly839Asp)
Xg.108681853G>CCA413852329COL4A5c.4181G>C (p.Gly1394Ala)
c.4163G>C (p.Gly1388Ala)
n.675G>C
n.584G>C
c.4172G>C (p.Gly1391Ala)
c.3857G>C (p.Gly1286Ala)
c.1754G>C (p.Gly585Ala)
c.4196G>C (p.Gly1399Ala)
c.4187G>C (p.Gly1396Ala)
c.4178G>C (p.Gly1393Ala)
c.2516G>C (p.Gly839Ala)
Xg.108681853G>TCA413852334COL4A5c.4181G>T (p.Gly1394Val)
c.4163G>T (p.Gly1388Val)
n.675G>T
n.584G>T
c.4172G>T (p.Gly1391Val)
c.3857G>T (p.Gly1286Val)
c.1754G>T (p.Gly585Val)
c.4196G>T (p.Gly1399Val)
c.4187G>T (p.Gly1396Val)
c.4178G>T (p.Gly1393Val)
c.2516G>T (p.Gly839Val)
Xg.108681854T>ACA517923862COL4A5c.4182T>A (p.Gly1394=)
c.4164T>A (p.Gly1388=)
n.676T>A
n.585T>A
c.4173T>A (p.Gly1391=)
c.3858T>A (p.Gly1286=)
c.1755T>A (p.Gly585=)
c.4197T>A (p.Gly1399=)
c.4188T>A (p.Gly1396=)
c.4179T>A (p.Gly1393=)
c.2517T>A (p.Gly839=)
Xg.108681854T>CCA517923861COL4A5c.4182T>C (p.Gly1394=)
c.4164T>C (p.Gly1388=)
n.676T>C
n.585T>C
c.4173T>C (p.Gly1391=)
c.3858T>C (p.Gly1286=)
c.1755T>C (p.Gly585=)
c.4197T>C (p.Gly1399=)
c.4188T>C (p.Gly1396=)
c.4179T>C (p.Gly1393=)
c.2517T>C (p.Gly839=)
 COSMIC COSMIC
Xg.108681854T>GCA517923860COL4A5c.4182T>G (p.Gly1394=)
c.4164T>G (p.Gly1388=)
n.676T>G
n.585T>G
c.4173T>G (p.Gly1391=)
c.3858T>G (p.Gly1286=)
c.1755T>G (p.Gly585=)
c.4197T>G (p.Gly1399=)
c.4188T>G (p.Gly1396=)
c.4179T>G (p.Gly1393=)
c.2517T>G (p.Gly839=)
Xg.108681855C>ACA413852336COL4A5c.4183C>A (p.Leu1395Ile)
c.4165C>A (p.Leu1389Ile)
n.677C>A
n.586C>A
c.4174C>A (p.Leu1392Ile)
c.3859C>A (p.Leu1287Ile)
c.1756C>A (p.Leu586Ile)
c.4198C>A (p.Leu1400Ile)
c.4189C>A (p.Leu1397Ile)
c.4180C>A (p.Leu1394Ile)
c.2518C>A (p.Leu840Ile)
Xg.108681855C>GCA413852337COL4A5c.4183C>G (p.Leu1395Val)
c.4165C>G (p.Leu1389Val)
n.677C>G
n.586C>G
c.4174C>G (p.Leu1392Val)
c.3859C>G (p.Leu1287Val)
c.1756C>G (p.Leu586Val)
c.4198C>G (p.Leu1400Val)
c.4189C>G (p.Leu1397Val)
c.4180C>G (p.Leu1394Val)
c.2518C>G (p.Leu840Val)
Xg.108681855C>TCA517923863COL4A5c.4183C>T (p.Leu1395=)
c.4165C>T (p.Leu1389=)
n.677C>T
n.586C>T
c.4174C>T (p.Leu1392=)
c.3859C>T (p.Leu1287=)
c.1756C>T (p.Leu586=)
c.4198C>T (p.Leu1400=)
c.4189C>T (p.Leu1397=)
c.4180C>T (p.Leu1394=)
c.2518C>T (p.Leu840=)
Xg.108681856T>ACA413852340COL4A5c.4184T>A (p.Leu1395Gln)
c.4166T>A (p.Leu1389Gln)
n.678T>A
n.587T>A
c.4175T>A (p.Leu1392Gln)
c.3860T>A (p.Leu1287Gln)
c.1757T>A (p.Leu586Gln)
c.4199T>A (p.Leu1400Gln)
c.4190T>A (p.Leu1397Gln)
c.4181T>A (p.Leu1394Gln)
c.2519T>A (p.Leu840Gln)
Xg.108681856T>CCA413852342COL4A5c.4184T>C (p.Leu1395Pro)
c.4166T>C (p.Leu1389Pro)
n.678T>C
n.587T>C
c.4175T>C (p.Leu1392Pro)
c.3860T>C (p.Leu1287Pro)
c.1757T>C (p.Leu586Pro)
c.4199T>C (p.Leu1400Pro)
c.4190T>C (p.Leu1397Pro)
c.4181T>C (p.Leu1394Pro)
c.2519T>C (p.Leu840Pro)
 gnomAD v4
Xg.108681856T>GCA413852344COL4A5c.4184T>G (p.Leu1395Arg)
c.4166T>G (p.Leu1389Arg)
n.678T>G
n.587T>G
c.4175T>G (p.Leu1392Arg)
c.3860T>G (p.Leu1287Arg)
c.1757T>G (p.Leu586Arg)
c.4199T>G (p.Leu1400Arg)
c.4190T>G (p.Leu1397Arg)
c.4181T>G (p.Leu1394Arg)
c.2519T>G (p.Leu840Arg)
Xg.108681856dupCA2580100216COL4A5c.4184dup (p.Pro1396ThrfsTer28)
c.4166dup (p.Pro1390ThrfsTer28)
n.678dup
n.587dup
c.4175dup (p.Pro1393ThrfsTer28)
c.3860dup (p.Pro1288ThrfsTer28)
c.1757dup (p.Pro587ThrfsTer28)
c.4199dup (p.Pro1401ThrfsTer28)
c.4190dup (p.Pro1398ThrfsTer28)
c.4181dup (p.Pro1395ThrfsTer28)
c.2519dup (p.Pro841ThrfsTer28)
 ClinVar
Xg.108681857A=CA2450717245COL4A5c.4185A= (p.Leu1395=)
c.4167A= (p.Leu1389=)
n.679A=
n.588A=
c.4176A= (p.Leu1392=)
c.3861A= (p.Leu1287=)
c.1758A= (p.Leu586=)
c.4200A= (p.Leu1400=)
c.4191A= (p.Leu1397=)
c.4182A= (p.Leu1394=)
c.2520A= (p.Leu840=)
Xg.108681857A>CCA517923866COL4A5c.4185A>C (p.Leu1395=)
c.4167A>C (p.Leu1389=)
n.679A>C
n.588A>C
c.4176A>C (p.Leu1392=)
c.3861A>C (p.Leu1287=)
c.1758A>C (p.Leu586=)
c.4200A>C (p.Leu1400=)
c.4191A>C (p.Leu1397=)
c.4182A>C (p.Leu1394=)
c.2520A>C (p.Leu840=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108681857A>GCA517923865COL4A5c.4185A>G (p.Leu1395=)
c.4167A>G (p.Leu1389=)
n.679A>G
n.588A>G
c.4176A>G (p.Leu1392=)
c.3861A>G (p.Leu1287=)
c.1758A>G (p.Leu586=)
c.4200A>G (p.Leu1400=)
c.4191A>G (p.Leu1397=)
c.4182A>G (p.Leu1394=)
c.2520A>G (p.Leu840=)
Xg.108681857A>TCA517923864COL4A5c.4185A>T (p.Leu1395=)
c.4167A>T (p.Leu1389=)
n.679A>T
n.588A>T
c.4176A>T (p.Leu1392=)
c.3861A>T (p.Leu1287=)
c.1758A>T (p.Leu586=)
c.4200A>T (p.Leu1400=)
c.4191A>T (p.Leu1397=)
c.4182A>T (p.Leu1394=)
c.2520A>T (p.Leu840=)
Xg.108681858C>ACA413852354COL4A5c.4186C>A (p.Pro1396Thr)
c.4168C>A (p.Pro1390Thr)
n.680C>A
n.589C>A
c.4177C>A (p.Pro1393Thr)
c.3862C>A (p.Pro1288Thr)
c.1759C>A (p.Pro587Thr)
c.4201C>A (p.Pro1401Thr)
c.4192C>A (p.Pro1398Thr)
c.4183C>A (p.Pro1395Thr)
c.2521C>A (p.Pro841Thr)
Xg.108681858C=CA2450717246COL4A5c.4186C= (p.Pro1396=)
c.4168C= (p.Pro1390=)
n.680C=
n.589C=
c.4177C= (p.Pro1393=)
c.3862C= (p.Pro1288=)
c.1759C= (p.Pro587=)
c.4201C= (p.Pro1401=)
c.4192C= (p.Pro1398=)
c.4183C= (p.Pro1395=)
c.2521C= (p.Pro841=)
Xg.108681858C>GCA413852356COL4A5c.4186C>G (p.Pro1396Ala)
c.4168C>G (p.Pro1390Ala)
n.680C>G
n.589C>G
c.4177C>G (p.Pro1393Ala)
c.3862C>G (p.Pro1288Ala)
c.1759C>G (p.Pro587Ala)
c.4201C>G (p.Pro1401Ala)
c.4192C>G (p.Pro1398Ala)
c.4183C>G (p.Pro1395Ala)
c.2521C>G (p.Pro841Ala)
Xg.108681858C>TCA413852359COL4A5c.4186C>T (p.Pro1396Ser)
c.4168C>T (p.Pro1390Ser)
n.680C>T
n.589C>T
c.4177C>T (p.Pro1393Ser)
c.3862C>T (p.Pro1288Ser)
c.1759C>T (p.Pro587Ser)
c.4201C>T (p.Pro1401Ser)
c.4192C>T (p.Pro1398Ser)
c.4183C>T (p.Pro1395Ser)
c.2521C>T (p.Pro841Ser)
 dbSNP COSMIC COSMIC
Xg.108681859C>ACA413852369COL4A5c.4187C>A (p.Pro1396Gln)
c.4169C>A (p.Pro1390Gln)
n.681C>A
n.590C>A
c.4178C>A (p.Pro1393Gln)
c.3863C>A (p.Pro1288Gln)
c.1760C>A (p.Pro587Gln)
c.4202C>A (p.Pro1401Gln)
c.4193C>A (p.Pro1398Gln)
c.4184C>A (p.Pro1395Gln)
c.2522C>A (p.Pro841Gln)
Xg.108681859C=CA2450717247COL4A5c.4187C= (p.Pro1396=)
c.4169C= (p.Pro1390=)
n.681C=
n.590C=
c.4178C= (p.Pro1393=)
c.3863C= (p.Pro1288=)
c.1760C= (p.Pro587=)
c.4202C= (p.Pro1401=)
c.4193C= (p.Pro1398=)
c.4184C= (p.Pro1395=)
c.2522C= (p.Pro841=)
Xg.108681859C>GCA413852366COL4A5c.4187C>G (p.Pro1396Arg)
c.4169C>G (p.Pro1390Arg)
n.681C>G
n.590C>G
c.4178C>G (p.Pro1393Arg)
c.3863C>G (p.Pro1288Arg)
c.1760C>G (p.Pro587Arg)
c.4202C>G (p.Pro1401Arg)
c.4193C>G (p.Pro1398Arg)
c.4184C>G (p.Pro1395Arg)
c.2522C>G (p.Pro841Arg)
Xg.108681859C>TCA413852364COL4A5c.4187C>T (p.Pro1396Leu)
c.4169C>T (p.Pro1390Leu)
n.681C>T
n.590C>T
c.4178C>T (p.Pro1393Leu)
c.3863C>T (p.Pro1288Leu)
c.1760C>T (p.Pro587Leu)
c.4202C>T (p.Pro1401Leu)
c.4193C>T (p.Pro1398Leu)
c.4184C>T (p.Pro1395Leu)
c.2522C>T (p.Pro841Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108681860A>CCA517923867COL4A5c.4188A>C (p.Pro1396=)
c.4170A>C (p.Pro1390=)
n.682A>C
n.591A>C
c.4179A>C (p.Pro1393=)
c.3864A>C (p.Pro1288=)
c.1761A>C (p.Pro587=)
c.4203A>C (p.Pro1401=)
c.4194A>C (p.Pro1398=)
c.4185A>C (p.Pro1395=)
c.2523A>C (p.Pro841=)
Xg.108681860A>GCA517923869COL4A5c.4188A>G (p.Pro1396=)
c.4170A>G (p.Pro1390=)
n.682A>G
n.591A>G
c.4179A>G (p.Pro1393=)
c.3864A>G (p.Pro1288=)
c.1761A>G (p.Pro587=)
c.4203A>G (p.Pro1401=)
c.4194A>G (p.Pro1398=)
c.4185A>G (p.Pro1395=)
c.2523A>G (p.Pro841=)
 gnomAD v4
Xg.108681860A>TCA517923868COL4A5c.4188A>T (p.Pro1396=)
c.4170A>T (p.Pro1390=)
n.682A>T
n.591A>T
c.4179A>T (p.Pro1393=)
c.3864A>T (p.Pro1288=)
c.1761A>T (p.Pro587=)
c.4203A>T (p.Pro1401=)
c.4194A>T (p.Pro1398=)
c.4185A>T (p.Pro1395=)
c.2523A>T (p.Pro841=)
Xg.108681861G>ACA413852370COL4A5c.4189G>A (p.Gly1397Arg)
c.4171G>A (p.Gly1391Arg)
n.683G>A
n.592G>A
c.4180G>A (p.Gly1394Arg)
c.3865G>A (p.Gly1289Arg)
c.1762G>A (p.Gly588Arg)
c.4204G>A (p.Gly1402Arg)
c.4195G>A (p.Gly1399Arg)
c.4186G>A (p.Gly1396Arg)
c.2524G>A (p.Gly842Arg)
Xg.108681861G>CCA413852371COL4A5c.4189G>C (p.Gly1397Arg)
c.4171G>C (p.Gly1391Arg)
n.683G>C
n.592G>C
c.4180G>C (p.Gly1394Arg)
c.3865G>C (p.Gly1289Arg)
c.1762G>C (p.Gly588Arg)
c.4204G>C (p.Gly1402Arg)
c.4195G>C (p.Gly1399Arg)
c.4186G>C (p.Gly1396Arg)
c.2524G>C (p.Gly842Arg)
Xg.108681861G=CA2450717248COL4A5c.4189G= (p.Gly1397=)
c.4171G= (p.Gly1391=)
n.683G=
n.592G=
c.4180G= (p.Gly1394=)
c.3865G= (p.Gly1289=)
c.1762G= (p.Gly588=)
c.4204G= (p.Gly1402=)
c.4195G= (p.Gly1399=)
c.4186G= (p.Gly1396=)
c.2524G= (p.Gly842=)
Xg.108681861G>TCA258994COL4A5c.4189G>T (p.Gly1397Ter)
c.4171G>T (p.Gly1391Ter)
n.683G>T
n.592G>T
c.4180G>T (p.Gly1394Ter)
c.3865G>T (p.Gly1289Ter)
c.1762G>T (p.Gly588Ter)
c.4204G>T (p.Gly1402Ter)
c.4195G>T (p.Gly1399Ter)
c.4186G>T (p.Gly1396Ter)
c.2524G>T (p.Gly842Ter)
 dbSNP
Xg.108681862G>ACA413852372COL4A5c.4190G>A (p.Gly1397Glu)
c.4172G>A (p.Gly1391Glu)
n.684G>A
n.593G>A
c.4181G>A (p.Gly1394Glu)
c.3866G>A (p.Gly1289Glu)
c.1763G>A (p.Gly588Glu)
c.4205G>A (p.Gly1402Glu)
c.4196G>A (p.Gly1399Glu)
c.4187G>A (p.Gly1396Glu)
c.2525G>A (p.Gly842Glu)
Xg.108681862G>CCA413852373COL4A5c.4190G>C (p.Gly1397Ala)
c.4172G>C (p.Gly1391Ala)
n.684G>C
n.593G>C
c.4181G>C (p.Gly1394Ala)
c.3866G>C (p.Gly1289Ala)
c.1763G>C (p.Gly588Ala)
c.4205G>C (p.Gly1402Ala)
c.4196G>C (p.Gly1399Ala)
c.4187G>C (p.Gly1396Ala)
c.2525G>C (p.Gly842Ala)
Xg.108681862G>TCA413852374COL4A5c.4190G>T (p.Gly1397Val)
c.4172G>T (p.Gly1391Val)
n.684G>T
n.593G>T
c.4181G>T (p.Gly1394Val)
c.3866G>T (p.Gly1289Val)
c.1763G>T (p.Gly588Val)
c.4205G>T (p.Gly1402Val)
c.4196G>T (p.Gly1399Val)
c.4187G>T (p.Gly1396Val)
c.2525G>T (p.Gly842Val)
Xg.108681863A>CCA517923870COL4A5c.4191A>C (p.Gly1397=)
c.4173A>C (p.Gly1391=)
n.685A>C
n.594A>C
c.4182A>C (p.Gly1394=)
c.3867A>C (p.Gly1289=)
c.1764A>C (p.Gly588=)
c.4206A>C (p.Gly1402=)
c.4197A>C (p.Gly1399=)
c.4188A>C (p.Gly1396=)
c.2526A>C (p.Gly842=)
 gnomAD v4
Xg.108681863A>GCA517923871COL4A5c.4191A>G (p.Gly1397=)
c.4173A>G (p.Gly1391=)
n.685A>G
n.594A>G
c.4182A>G (p.Gly1394=)
c.3867A>G (p.Gly1289=)
c.1764A>G (p.Gly588=)
c.4206A>G (p.Gly1402=)
c.4197A>G (p.Gly1399=)
c.4188A>G (p.Gly1396=)
c.2526A>G (p.Gly842=)
Xg.108681863A>TCA517923872COL4A5c.4191A>T (p.Gly1397=)
c.4173A>T (p.Gly1391=)
n.685A>T
n.594A>T
c.4182A>T (p.Gly1394=)
c.3867A>T (p.Gly1289=)
c.1764A>T (p.Gly588=)
c.4206A>T (p.Gly1402=)
c.4197A>T (p.Gly1399=)
c.4188A>T (p.Gly1396=)
c.2526A>T (p.Gly842=)
Xg.108681863_108681864delinsACCA2450717249COL4A5c.4191_4192delinsAC (p.Gly1397=)
c.4173_4174delinsAC (p.Gly1391=)
n.685_686delinsAC
n.594_595delinsAC
c.4182_4183delinsAC (p.Gly1394=)
c.3867_3868delinsAC (p.Gly1289=)
c.1764_1765delinsAC (p.Gly588=)
c.4206_4207delinsAC (p.Gly1402=)
c.4197_4198delinsAC (p.Gly1399=)
c.4188_4189delinsAC (p.Gly1396=)
c.2526_2527delinsAC (p.Gly842=)
Xg.108681864C>ACA413852379COL4A5c.4192C>A (p.Pro1398Thr)
c.4174C>A (p.Pro1392Thr)
n.686C>A
n.595C>A
c.4183C>A (p.Pro1395Thr)
c.3868C>A (p.Pro1290Thr)
c.1765C>A (p.Pro589Thr)
c.4207C>A (p.Pro1403Thr)
c.4198C>A (p.Pro1400Thr)
c.4189C>A (p.Pro1397Thr)
c.2527C>A (p.Pro843Thr)
 gnomAD v4
Xg.108681864C>GCA413852389COL4A5c.4192C>G (p.Pro1398Ala)
c.4174C>G (p.Pro1392Ala)
n.686C>G
n.595C>G
c.4183C>G (p.Pro1395Ala)
c.3868C>G (p.Pro1290Ala)
c.1765C>G (p.Pro589Ala)
c.4207C>G (p.Pro1403Ala)
c.4198C>G (p.Pro1400Ala)
c.4189C>G (p.Pro1397Ala)
c.2527C>G (p.Pro843Ala)
Xg.108681864C>TCA413852377COL4A5c.4192C>T (p.Pro1398Ser)
c.4174C>T (p.Pro1392Ser)
n.686C>T
n.595C>T
c.4183C>T (p.Pro1395Ser)
c.3868C>T (p.Pro1290Ser)
c.1765C>T (p.Pro589Ser)
c.4207C>T (p.Pro1403Ser)
c.4198C>T (p.Pro1400Ser)
c.4189C>T (p.Pro1397Ser)
c.2527C>T (p.Pro843Ser)
Xg.108681867delCA259001COL4A5c.4195del (p.Gln1399LysfsTer?)
c.4177del (p.Gln1393LysfsTer?)
n.689del
n.598del
c.4186del (p.Gln1396LysfsTer?)
c.3871del (p.Gln1291LysfsTer?)
c.1768del (p.Gln590LysfsTer?)
c.4210del (p.Gln1404LysfsTer?)
c.4201del (p.Gln1401LysfsTer?)
c.4192del (p.Gln1398LysfsTer?)
c.2530del (p.Gln844LysfsTer?)
 dbSNP
Xg.108681865C>ACA413852396COL4A5c.4193C>A (p.Pro1398His)
c.4175C>A (p.Pro1392His)
n.687C>A
n.596C>A
c.4184C>A (p.Pro1395His)
c.3869C>A (p.Pro1290His)
c.1766C>A (p.Pro589His)
c.4208C>A (p.Pro1403His)
c.4199C>A (p.Pro1400His)
c.4190C>A (p.Pro1397His)
c.2528C>A (p.Pro843His)
 gnomAD v4
Xg.108681865C=CA2450717250COL4A5c.4193C= (p.Pro1398=)
c.4175C= (p.Pro1392=)
n.687C=
n.596C=
c.4184C= (p.Pro1395=)
c.3869C= (p.Pro1290=)
c.1766C= (p.Pro589=)
c.4208C= (p.Pro1403=)
c.4199C= (p.Pro1400=)
c.4190C= (p.Pro1397=)
c.2528C= (p.Pro843=)
Xg.108681865C>GCA413852397COL4A5c.4193C>G (p.Pro1398Arg)
c.4175C>G (p.Pro1392Arg)
n.687C>G
n.596C>G
c.4184C>G (p.Pro1395Arg)
c.3869C>G (p.Pro1290Arg)
c.1766C>G (p.Pro589Arg)
c.4208C>G (p.Pro1403Arg)
c.4199C>G (p.Pro1400Arg)
c.4190C>G (p.Pro1397Arg)
c.2528C>G (p.Pro843Arg)
 dbSNP gnomAD v4
Xg.108681865C>TCA413852398COL4A5c.4193C>T (p.Pro1398Leu)
c.4175C>T (p.Pro1392Leu)
n.687C>T
n.596C>T
c.4184C>T (p.Pro1395Leu)
c.3869C>T (p.Pro1290Leu)
c.1766C>T (p.Pro589Leu)
c.4208C>T (p.Pro1403Leu)
c.4199C>T (p.Pro1400Leu)
c.4190C>T (p.Pro1397Leu)
c.2528C>T (p.Pro843Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108681866C>ACA517923873COL4A5c.4194C>A (p.Pro1398=)
c.4176C>A (p.Pro1392=)
n.688C>A
n.597C>A
c.4185C>A (p.Pro1395=)
c.3870C>A (p.Pro1290=)
c.1767C>A (p.Pro589=)
c.4209C>A (p.Pro1403=)
c.4200C>A (p.Pro1400=)
c.4191C>A (p.Pro1397=)
c.2529C>A (p.Pro843=)
Xg.108681866C=CA2450717251COL4A5c.4194C= (p.Pro1398=)
c.4176C= (p.Pro1392=)
n.688C=
n.597C=
c.4185C= (p.Pro1395=)
c.3870C= (p.Pro1290=)
c.1767C= (p.Pro589=)
c.4209C= (p.Pro1403=)
c.4200C= (p.Pro1400=)
c.4191C= (p.Pro1397=)
c.2529C= (p.Pro843=)
Xg.108681866C>GCA517923874COL4A5c.4194C>G (p.Pro1398=)
c.4176C>G (p.Pro1392=)
n.688C>G
n.597C>G
c.4185C>G (p.Pro1395=)
c.3870C>G (p.Pro1290=)
c.1767C>G (p.Pro589=)
c.4209C>G (p.Pro1403=)
c.4200C>G (p.Pro1400=)
c.4191C>G (p.Pro1397=)
c.2529C>G (p.Pro843=)
 dbSNP
Xg.108681866C>TCA517923875COL4A5c.4194C>T (p.Pro1398=)
c.4176C>T (p.Pro1392=)
n.688C>T
n.597C>T
c.4185C>T (p.Pro1395=)
c.3870C>T (p.Pro1290=)
c.1767C>T (p.Pro589=)
c.4209C>T (p.Pro1403=)
c.4200C>T (p.Pro1400=)
c.4191C>T (p.Pro1397=)
c.2529C>T (p.Pro843=)
Xg.108681867C>ACA413852399COL4A5c.4195C>A (p.Gln1399Lys)
c.4177C>A (p.Gln1393Lys)
n.689C>A
n.598C>A
c.4186C>A (p.Gln1396Lys)
c.3871C>A (p.Gln1291Lys)
c.1768C>A (p.Gln590Lys)
c.4210C>A (p.Gln1404Lys)
c.4201C>A (p.Gln1401Lys)
c.4192C>A (p.Gln1398Lys)
c.2530C>A (p.Gln844Lys)
Xg.108681867C=CA2450717253COL4A5c.4195C= (p.Gln1399=)
c.4177C= (p.Gln1393=)
n.689C=
n.598C=
c.4186C= (p.Gln1396=)
c.3871C= (p.Gln1291=)
c.1768C= (p.Gln590=)
c.4210C= (p.Gln1404=)
c.4201C= (p.Gln1401=)
c.4192C= (p.Gln1398=)
c.2530C= (p.Gln844=)
Xg.108681867C>GCA413852400COL4A5c.4195C>G (p.Gln1399Glu)
c.4177C>G (p.Gln1393Glu)
n.689C>G
n.598C>G
c.4186C>G (p.Gln1396Glu)
c.3871C>G (p.Gln1291Glu)
c.1768C>G (p.Gln590Glu)
c.4210C>G (p.Gln1404Glu)
c.4201C>G (p.Gln1401Glu)
c.4192C>G (p.Gln1398Glu)
c.2530C>G (p.Gln844Glu)
Xg.108681867C>TCA258998COL4A5c.4195C>T (p.Gln1399Ter)
c.4177C>T (p.Gln1393Ter)
n.689C>T
n.598C>T
c.4186C>T (p.Gln1396Ter)
c.3871C>T (p.Gln1291Ter)
c.1768C>T (p.Gln590Ter)
c.4210C>T (p.Gln1404Ter)
c.4201C>T (p.Gln1401Ter)
c.4192C>T (p.Gln1398Ter)
c.2530C>T (p.Gln844Ter)
 dbSNP
Xg.108681867_108681868delinsCACA2450717252COL4A5c.4195_4196delinsCA (p.Gln1399=)
c.4177_4178delinsCA (p.Gln1393=)
n.689_690delinsCA
n.598_599delinsCA
c.4186_4187delinsCA (p.Gln1396=)
c.3871_3872delinsCA (p.Gln1291=)
c.1768_1769delinsCA (p.Gln590=)
c.4210_4211delinsCA (p.Gln1404=)
c.4201_4202delinsCA (p.Gln1401=)
c.4192_4193delinsCA (p.Gln1398=)
c.2530_2531delinsCA (p.Gln844=)
Xg.108681868A=CA2450717254COL4A5c.4196A= (p.Gln1399=)
c.4178A= (p.Gln1393=)
n.690A=
n.599A=
c.4187A= (p.Gln1396=)
c.3872A= (p.Gln1291=)
c.1769A= (p.Gln590=)
c.4211A= (p.Gln1404=)
c.4202A= (p.Gln1401=)
c.4193A= (p.Gln1398=)
c.2531A= (p.Gln844=)
Xg.108681868A>CCA413852406COL4A5c.4196A>C (p.Gln1399Pro)
c.4178A>C (p.Gln1393Pro)
n.690A>C
n.599A>C
c.4187A>C (p.Gln1396Pro)
c.3872A>C (p.Gln1291Pro)
c.1769A>C (p.Gln590Pro)
c.4211A>C (p.Gln1404Pro)
c.4202A>C (p.Gln1401Pro)
c.4193A>C (p.Gln1398Pro)
c.2531A>C (p.Gln844Pro)
Xg.108681868A>GCA413852405COL4A5c.4196A>G (p.Gln1399Arg)
c.4178A>G (p.Gln1393Arg)
n.690A>G
n.599A>G
c.4187A>G (p.Gln1396Arg)
c.3872A>G (p.Gln1291Arg)
c.1769A>G (p.Gln590Arg)
c.4211A>G (p.Gln1404Arg)
c.4202A>G (p.Gln1401Arg)
c.4193A>G (p.Gln1398Arg)
c.2531A>G (p.Gln844Arg)
Xg.108681868A>TCA413852403COL4A5c.4196A>T (p.Gln1399Leu)
c.4178A>T (p.Gln1393Leu)
n.690A>T
n.599A>T
c.4187A>T (p.Gln1396Leu)
c.3872A>T (p.Gln1291Leu)
c.1769A>T (p.Gln590Leu)
c.4211A>T (p.Gln1404Leu)
c.4202A>T (p.Gln1401Leu)
c.4193A>T (p.Gln1398Leu)
c.2531A>T (p.Gln844Leu)
Xg.108681869delCA915951309COL4A5c.4197del (p.Gly1400AspfsTer?)
c.4179del (p.Gly1394AspfsTer?)
n.691del
n.600del
c.4188del (p.Gly1397AspfsTer?)
c.3873del (p.Gly1292AspfsTer?)
c.1770del (p.Gly591AspfsTer?)
c.4212del (p.Gly1405AspfsTer?)
c.4203del (p.Gly1402AspfsTer?)
c.4194del (p.Gly1399AspfsTer?)
c.2532del (p.Gly845AspfsTer?)
 ClinVar dbSNP
Xg.108681868_108681872delinsAAGGACA2450717255COL4A5c.4196_4200delinsAAGGA (p.Gln1399=)
c.4178_4182delinsAAGGA (p.Gln1393=)
n.690_694delinsAAGGA
n.599_603delinsAAGGA
c.4187_4191delinsAAGGA (p.Gln1396=)
c.3872_3876delinsAAGGA (p.Gln1291=)
c.1769_1773delinsAAGGA (p.Gln590=)
c.4211_4215delinsAAGGA (p.Gln1404=)
c.4202_4206delinsAAGGA (p.Gln1401=)
c.4193_4197delinsAAGGA (p.Gln1398=)
c.2531_2535delinsAAGGA (p.Gln844=)
Xg.108681868_108681869insCCA334055385COL4A5c.4196_4197insC (p.Gln1399HisfsTer25)
c.4178_4179insC (p.Gln1393HisfsTer25)
n.690_691insC
n.599_600insC
c.4187_4188insC (p.Gln1396HisfsTer25)
c.3872_3873insC (p.Gln1291HisfsTer25)
c.1769_1770insC (p.Gln590HisfsTer25)
c.4211_4212insC (p.Gln1404HisfsTer25)
c.4202_4203insC (p.Gln1401HisfsTer25)
c.4193_4194insC (p.Gln1398HisfsTer25)
c.2531_2532insC (p.Gln844HisfsTer25)
 dbSNP
Xg.108681869A>CCA413852412COL4A5c.4197A>C (p.Gln1399His)
c.4179A>C (p.Gln1393His)
n.691A>C
n.600A>C
c.4188A>C (p.Gln1396His)
c.3873A>C (p.Gln1291His)
c.1770A>C (p.Gln590His)
c.4212A>C (p.Gln1404His)
c.4203A>C (p.Gln1401His)
c.4194A>C (p.Gln1398His)
c.2532A>C (p.Gln844His)
Xg.108681869A>GCA517923876COL4A5c.4197A>G (p.Gln1399=)
c.4179A>G (p.Gln1393=)
n.691A>G
n.600A>G
c.4188A>G (p.Gln1396=)
c.3873A>G (p.Gln1291=)
c.1770A>G (p.Gln590=)
c.4212A>G (p.Gln1404=)
c.4203A>G (p.Gln1401=)
c.4194A>G (p.Gln1398=)
c.2532A>G (p.Gln844=)
 ClinVar dbSNP gnomAD v4
Xg.108681869A>TCA413852413COL4A5c.4197A>T (p.Gln1399His)
c.4179A>T (p.Gln1393His)
n.691A>T
n.600A>T
c.4188A>T (p.Gln1396His)
c.3873A>T (p.Gln1291His)
c.1770A>T (p.Gln590His)
c.4212A>T (p.Gln1404His)
c.4203A>T (p.Gln1401His)
c.4194A>T (p.Gln1398His)
c.2532A>T (p.Gln844His)
Xg.108681869_108681872delinsGGGCA915951310COL4A5c.4197_4200delinsGGG (p.Pro1401LeufsTer?)
c.4179_4182delinsGGG (p.Pro1395LeufsTer?)
n.691_694delinsGGG
n.600_603delinsGGG
c.4188_4191delinsGGG (p.Pro1398LeufsTer?)
c.3873_3876delinsGGG (p.Pro1293LeufsTer?)
c.1770_1773delinsGGG (p.Pro592LeufsTer?)
c.4212_4215delinsGGG (p.Pro1406LeufsTer?)
c.4203_4206delinsGGG (p.Pro1403LeufsTer?)
c.4194_4197delinsGGG (p.Pro1400LeufsTer?)
c.2532_2535delinsGGG (p.Pro846LeufsTer?)
 ClinVar dbSNP
Xg.108681870G>ACA334055393COL4A5c.4198G>A (p.Gly1400Arg)
c.4180G>A (p.Gly1394Arg)
n.692G>A
n.601G>A
c.4189G>A (p.Gly1397Arg)
c.3874G>A (p.Gly1292Arg)
c.1771G>A (p.Gly591Arg)
c.4213G>A (p.Gly1405Arg)
c.4204G>A (p.Gly1402Arg)
c.4195G>A (p.Gly1399Arg)
c.2533G>A (p.Gly845Arg)
 dbSNP
Xg.108681870G>CCA413852417COL4A5c.4198G>C (p.Gly1400Arg)
c.4180G>C (p.Gly1394Arg)
n.692G>C
n.601G>C
c.4189G>C (p.Gly1397Arg)
c.3874G>C (p.Gly1292Arg)
c.1771G>C (p.Gly591Arg)
c.4213G>C (p.Gly1405Arg)
c.4204G>C (p.Gly1402Arg)
c.4195G>C (p.Gly1399Arg)
c.2533G>C (p.Gly845Arg)
Xg.108681870G=CA2450717256COL4A5c.4198G= (p.Gly1400=)
c.4180G= (p.Gly1394=)
n.692G=
n.601G=
c.4189G= (p.Gly1397=)
c.3874G= (p.Gly1292=)
c.1771G= (p.Gly591=)
c.4213G= (p.Gly1405=)
c.4204G= (p.Gly1402=)
c.4195G= (p.Gly1399=)
c.2533G= (p.Gly845=)
Xg.108681870G>TCA413852419COL4A5c.4198G>T (p.Gly1400Ter)
c.4180G>T (p.Gly1394Ter)
n.692G>T
n.601G>T
c.4189G>T (p.Gly1397Ter)
c.3874G>T (p.Gly1292Ter)
c.1771G>T (p.Gly591Ter)
c.4213G>T (p.Gly1405Ter)
c.4204G>T (p.Gly1402Ter)
c.4195G>T (p.Gly1399Ter)
c.2533G>T (p.Gly845Ter)
 ClinVar
Xg.108681871G>ACA413852421COL4A5c.4199G>A (p.Gly1400Glu)
c.4181G>A (p.Gly1394Glu)
n.693G>A
n.602G>A
c.4190G>A (p.Gly1397Glu)
c.3875G>A (p.Gly1292Glu)
c.1772G>A (p.Gly591Glu)
c.4214G>A (p.Gly1405Glu)
c.4205G>A (p.Gly1402Glu)
c.4196G>A (p.Gly1399Glu)
c.2534G>A (p.Gly845Glu)
Xg.108681871G>CCA413852422COL4A5c.4199G>C (p.Gly1400Ala)
c.4181G>C (p.Gly1394Ala)
n.693G>C
n.602G>C
c.4190G>C (p.Gly1397Ala)
c.3875G>C (p.Gly1292Ala)
c.1772G>C (p.Gly591Ala)
c.4214G>C (p.Gly1405Ala)
c.4205G>C (p.Gly1402Ala)
c.4196G>C (p.Gly1399Ala)
c.2534G>C (p.Gly845Ala)
Xg.108681871G>TCA413852423COL4A5c.4199G>T (p.Gly1400Val)
c.4181G>T (p.Gly1394Val)
n.693G>T
n.602G>T
c.4190G>T (p.Gly1397Val)
c.3875G>T (p.Gly1292Val)
c.1772G>T (p.Gly591Val)
c.4214G>T (p.Gly1405Val)
c.4205G>T (p.Gly1402Val)
c.4196G>T (p.Gly1399Val)
c.2534G>T (p.Gly845Val)
Xg.108681872A=CA2450717258COL4A5c.4200A= (p.Gly1400=)
c.4182A= (p.Gly1394=)
n.694A=
n.603A=
c.4191A= (p.Gly1397=)
c.3876A= (p.Gly1292=)
c.1773A= (p.Gly591=)
c.4215A= (p.Gly1405=)
c.4206A= (p.Gly1402=)
c.4197A= (p.Gly1399=)
c.2535A= (p.Gly845=)
Xg.108681872A>CCA517923877COL4A5c.4200A>C (p.Gly1400=)
c.4182A>C (p.Gly1394=)
n.694A>C
n.603A>C
c.4191A>C (p.Gly1397=)
c.3876A>C (p.Gly1292=)
c.1773A>C (p.Gly591=)
c.4215A>C (p.Gly1405=)
c.4206A>C (p.Gly1402=)
c.4197A>C (p.Gly1399=)
c.2535A>C (p.Gly845=)
Xg.108681872A>GCA517923878COL4A5c.4200A>G (p.Gly1400=)
c.4182A>G (p.Gly1394=)
n.694A>G
n.603A>G
c.4191A>G (p.Gly1397=)
c.3876A>G (p.Gly1292=)
c.1773A>G (p.Gly591=)
c.4215A>G (p.Gly1405=)
c.4206A>G (p.Gly1402=)
c.4197A>G (p.Gly1399=)
c.2535A>G (p.Gly845=)
 ClinVar dbSNP
Xg.108681872A>TCA517923879COL4A5c.4200A>T (p.Gly1400=)
c.4182A>T (p.Gly1394=)
n.694A>T
n.603A>T
c.4191A>T (p.Gly1397=)
c.3876A>T (p.Gly1292=)
c.1773A>T (p.Gly591=)
c.4215A>T (p.Gly1405=)
c.4206A>T (p.Gly1402=)
c.4197A>T (p.Gly1399=)
c.2535A>T (p.Gly845=)
Xg.108681872_108681873delinsACCA2450717257COL4A5c.4200_4201delinsAC (p.Gly1400=)
c.4182_4183delinsAC (p.Gly1394=)
n.694_695delinsAC
n.603_604delinsAC
c.4191_4192delinsAC (p.Gly1397=)
c.3876_3877delinsAC (p.Gly1292=)
c.1773_1774delinsAC (p.Gly591=)
c.4215_4216delinsAC (p.Gly1405=)
c.4206_4207delinsAC (p.Gly1402=)
c.4197_4198delinsAC (p.Gly1399=)
c.2535_2536delinsAC (p.Gly845=)
Xg.108681873C>ACA413852425COL4A5c.4201C>A (p.Pro1401Thr)
c.4183C>A (p.Pro1395Thr)
n.695C>A
n.604C>A
c.4192C>A (p.Pro1398Thr)
c.3877C>A (p.Pro1293Thr)
c.1774C>A (p.Pro592Thr)
c.4216C>A (p.Pro1406Thr)
c.4207C>A (p.Pro1403Thr)
c.4198C>A (p.Pro1400Thr)
c.2536C>A (p.Pro846Thr)
Xg.108681873C>GCA413852428COL4A5c.4201C>G (p.Pro1401Ala)
c.4183C>G (p.Pro1395Ala)
n.695C>G
n.604C>G
c.4192C>G (p.Pro1398Ala)
c.3877C>G (p.Pro1293Ala)
c.1774C>G (p.Pro592Ala)
c.4216C>G (p.Pro1406Ala)
c.4207C>G (p.Pro1403Ala)
c.4198C>G (p.Pro1400Ala)
c.2536C>G (p.Pro846Ala)
Xg.108681873C>TCA413852424COL4A5c.4201C>T (p.Pro1401Ser)
c.4183C>T (p.Pro1395Ser)
n.695C>T
n.604C>T
c.4192C>T (p.Pro1398Ser)
c.3877C>T (p.Pro1293Ser)
c.1774C>T (p.Pro592Ser)
c.4216C>T (p.Pro1406Ser)
c.4207C>T (p.Pro1403Ser)
c.4198C>T (p.Pro1400Ser)
c.2536C>T (p.Pro846Ser)
 gnomAD v4
Xg.108681874delCA891843687COL4A5c.4202del (p.Pro1401LeufsTer?)
c.4184del (p.Pro1395LeufsTer?)
n.696del
n.605del
c.4193del (p.Pro1398LeufsTer?)
c.3878del (p.Pro1293LeufsTer?)
c.1775del (p.Pro592LeufsTer?)
c.4217del (p.Pro1406LeufsTer?)
c.4208del (p.Pro1403LeufsTer?)
c.4199del (p.Pro1400LeufsTer?)
c.2537del (p.Pro846LeufsTer?)
Xg.108681874C>ACA10489301COL4A5c.4202C>A (p.Pro1401His)
c.4184C>A (p.Pro1395His)
n.696C>A
n.605C>A
c.4193C>A (p.Pro1398His)
c.3878C>A (p.Pro1293His)
c.1775C>A (p.Pro592His)
c.4217C>A (p.Pro1406His)
c.4208C>A (p.Pro1403His)
c.4199C>A (p.Pro1400His)
c.2537C>A (p.Pro846His)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108681874C=CA2450717259COL4A5c.4202C= (p.Pro1401=)
c.4184C= (p.Pro1395=)
n.696C=
n.605C=
c.4193C= (p.Pro1398=)
c.3878C= (p.Pro1293=)
c.1775C= (p.Pro592=)
c.4217C= (p.Pro1406=)
c.4208C= (p.Pro1403=)
c.4199C= (p.Pro1400=)
c.2537C= (p.Pro846=)
Xg.108681874C>GCA413852431COL4A5c.4202C>G (p.Pro1401Arg)
c.4184C>G (p.Pro1395Arg)
n.696C>G
n.605C>G
c.4193C>G (p.Pro1398Arg)
c.3878C>G (p.Pro1293Arg)
c.1775C>G (p.Pro592Arg)
c.4217C>G (p.Pro1406Arg)
c.4208C>G (p.Pro1403Arg)
c.4199C>G (p.Pro1400Arg)
c.2537C>G (p.Pro846Arg)
Xg.108681874C>TCA413852433COL4A5c.4202C>T (p.Pro1401Leu)
c.4184C>T (p.Pro1395Leu)
n.696C>T
n.605C>T
c.4193C>T (p.Pro1398Leu)
c.3878C>T (p.Pro1293Leu)
c.1775C>T (p.Pro592Leu)
c.4217C>T (p.Pro1406Leu)
c.4208C>T (p.Pro1403Leu)
c.4199C>T (p.Pro1400Leu)
c.2537C>T (p.Pro846Leu)
 dbSNP gnomAD v2 gnomAD v4
Xg.108681875T>ACA517923880COL4A5c.4203T>A (p.Pro1401=)
c.4185T>A (p.Pro1395=)
n.697T>A
n.606T>A
c.4194T>A (p.Pro1398=)
c.3879T>A (p.Pro1293=)
c.1776T>A (p.Pro592=)
c.4218T>A (p.Pro1406=)
c.4209T>A (p.Pro1403=)
c.4200T>A (p.Pro1400=)
c.2538T>A (p.Pro846=)
Xg.108681875T>CCA517923882COL4A5c.4203T>C (p.Pro1401=)
c.4185T>C (p.Pro1395=)
n.697T>C
n.606T>C
c.4194T>C (p.Pro1398=)
c.3879T>C (p.Pro1293=)
c.1776T>C (p.Pro592=)
c.4218T>C (p.Pro1406=)
c.4209T>C (p.Pro1403=)
c.4200T>C (p.Pro1400=)
c.2538T>C (p.Pro846=)
Xg.108681875T>GCA517923881COL4A5c.4203T>G (p.Pro1401=)
c.4185T>G (p.Pro1395=)
n.697T>G
n.606T>G
c.4194T>G (p.Pro1398=)
c.3879T>G (p.Pro1293=)
c.1776T>G (p.Pro592=)
c.4218T>G (p.Pro1406=)
c.4209T>G (p.Pro1403=)
c.4200T>G (p.Pro1400=)
c.2538T>G (p.Pro846=)
Xg.108681876C>ACA413852435COL4A5c.4204C>A (p.Gln1402Lys)
c.4186C>A (p.Gln1396Lys)
n.698C>A
n.607C>A
c.4195C>A (p.Gln1399Lys)
c.3880C>A (p.Gln1294Lys)
c.1777C>A (p.Gln593Lys)
c.4219C>A (p.Gln1407Lys)
c.4210C>A (p.Gln1404Lys)
c.4201C>A (p.Gln1401Lys)
c.2539C>A (p.Gln847Lys)
Xg.108681876C>GCA413852438COL4A5c.4204C>G (p.Gln1402Glu)
c.4186C>G (p.Gln1396Glu)
n.698C>G
n.607C>G
c.4195C>G (p.Gln1399Glu)
c.3880C>G (p.Gln1294Glu)
c.1777C>G (p.Gln593Glu)
c.4219C>G (p.Gln1407Glu)
c.4210C>G (p.Gln1404Glu)
c.4201C>G (p.Gln1401Glu)
c.2539C>G (p.Gln847Glu)
Xg.108681876C>TCA413852440COL4A5c.4204C>T (p.Gln1402Ter)
c.4186C>T (p.Gln1396Ter)
n.698C>T
n.607C>T
c.4195C>T (p.Gln1399Ter)
c.3880C>T (p.Gln1294Ter)
c.1777C>T (p.Gln593Ter)
c.4219C>T (p.Gln1407Ter)
c.4210C>T (p.Gln1404Ter)
c.4201C>T (p.Gln1401Ter)
c.2539C>T (p.Gln847Ter)
Xg.108681877A=CA2450717260COL4A5c.4205A= (p.Gln1402=)
c.4187A= (p.Gln1396=)
n.699A=
n.608A=
c.1A=
c.4196A= (p.Gln1399=)
c.3881A= (p.Gln1294=)
c.1778A= (p.Gln593=)
c.4220A= (p.Gln1407=)
c.4211A= (p.Gln1404=)
c.4202A= (p.Gln1401=)
c.2540A= (p.Gln847=)
Xg.108681877A>CCA10489302COL4A5c.4205A>C (p.Gln1402Pro)
c.4187A>C (p.Gln1396Pro)
n.699A>C
n.608A>C
c.1A>C
c.4196A>C (p.Gln1399Pro)
c.3881A>C (p.Gln1294Pro)
c.1778A>C (p.Gln593Pro)
c.4220A>C (p.Gln1407Pro)
c.4211A>C (p.Gln1404Pro)
c.4202A>C (p.Gln1401Pro)
c.2540A>C (p.Gln847Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108681877A>GCA334055409COL4A5c.4205A>G (p.Gln1402Arg)
c.4187A>G (p.Gln1396Arg)
n.699A>G
n.608A>G
c.1A>G
c.4196A>G (p.Gln1399Arg)
c.3881A>G (p.Gln1294Arg)
c.1778A>G (p.Gln593Arg)
c.4220A>G (p.Gln1407Arg)
c.4211A>G (p.Gln1404Arg)
c.4202A>G (p.Gln1401Arg)
c.2540A>G (p.Gln847Arg)
 dbSNP
Xg.108681877A>TCA413852446COL4A5c.4205A>T (p.Gln1402Leu)
c.4187A>T (p.Gln1396Leu)
n.699A>T
n.608A>T
c.1A>T
c.4196A>T (p.Gln1399Leu)
c.3881A>T (p.Gln1294Leu)
c.1778A>T (p.Gln593Leu)
c.4220A>T (p.Gln1407Leu)
c.4211A>T (p.Gln1404Leu)
c.4202A>T (p.Gln1401Leu)
c.2540A>T (p.Gln847Leu)
Xg.108681878A>CCA413852449COL4A5c.4206A>C (p.Gln1402His)
c.4188A>C (p.Gln1396His)
n.700A>C
n.609A>C
c.2A>C
c.4197A>C (p.Gln1399His)
c.3882A>C (p.Gln1294His)
c.1779A>C (p.Gln593His)
c.4221A>C (p.Gln1407His)
c.4212A>C (p.Gln1404His)
c.4203A>C (p.Gln1401His)
c.2541A>C (p.Gln847His)
Xg.108681878A>GCA517923883COL4A5c.4206A>G (p.Gln1402=)
c.4188A>G (p.Gln1396=)
n.700A>G
n.609A>G
c.2A>G
c.4197A>G (p.Gln1399=)
c.3882A>G (p.Gln1294=)
c.1779A>G (p.Gln593=)
c.4221A>G (p.Gln1407=)
c.4212A>G (p.Gln1404=)
c.4203A>G (p.Gln1401=)
c.2541A>G (p.Gln847=)
Xg.108681878A>TCA413852451COL4A5c.4206A>T (p.Gln1402His)
c.4188A>T (p.Gln1396His)
n.700A>T
n.609A>T
c.2A>T
c.4197A>T (p.Gln1399His)
c.3882A>T (p.Gln1294His)
c.1779A>T (p.Gln593His)
c.4221A>T (p.Gln1407His)
c.4212A>T (p.Gln1404His)
c.4203A>T (p.Gln1401His)
c.2541A>T (p.Gln847His)
Xg.108681879G>ACA413852453COL4A5c.4207G>A (p.Gly1403Ser)
c.4189G>A (p.Gly1397Ser)
n.701G>A
n.610G>A
c.3G>A
c.4198G>A (p.Gly1400Ser)
c.3883G>A (p.Gly1295Ser)
c.1780G>A (p.Gly594Ser)
c.4222G>A (p.Gly1408Ser)
c.4213G>A (p.Gly1405Ser)
c.4204G>A (p.Gly1402Ser)
c.2542G>A (p.Gly848Ser)
 ClinVar dbSNP gnomAD v4
Xg.108681879G>CCA413852455COL4A5c.4207G>C (p.Gly1403Arg)
c.4189G>C (p.Gly1397Arg)
n.701G>C
n.610G>C
c.3G>C
c.4198G>C (p.Gly1400Arg)
c.3883G>C (p.Gly1295Arg)
c.1780G>C (p.Gly594Arg)
c.4222G>C (p.Gly1408Arg)
c.4213G>C (p.Gly1405Arg)
c.4204G>C (p.Gly1402Arg)
c.2542G>C (p.Gly848Arg)
Xg.108681879G>TCA413852457COL4A5c.4207G>T (p.Gly1403Cys)
c.4189G>T (p.Gly1397Cys)
n.701G>T
n.610G>T
c.3G>T
c.4198G>T (p.Gly1400Cys)
c.3883G>T (p.Gly1295Cys)
c.1780G>T (p.Gly594Cys)
c.4222G>T (p.Gly1408Cys)
c.4213G>T (p.Gly1405Cys)
c.4204G>T (p.Gly1402Cys)
c.2542G>T (p.Gly848Cys)
Xg.108681880G>ACA413852459COL4A5c.4208G>A (p.Gly1403Asp)
c.4190G>A (p.Gly1397Asp)
n.702G>A
n.611G>A
c.4G>A
c.4199G>A (p.Gly1400Asp)
c.3884G>A (p.Gly1295Asp)
c.1781G>A (p.Gly594Asp)
c.4223G>A (p.Gly1408Asp)
c.4214G>A (p.Gly1405Asp)
c.4205G>A (p.Gly1402Asp)
c.2543G>A (p.Gly848Asp)
Xg.108681880G>CCA413852470COL4A5c.4208G>C (p.Gly1403Ala)
c.4190G>C (p.Gly1397Ala)
n.702G>C
n.611G>C
c.4G>C
c.4199G>C (p.Gly1400Ala)
c.3884G>C (p.Gly1295Ala)
c.1781G>C (p.Gly594Ala)
c.4223G>C (p.Gly1408Ala)
c.4214G>C (p.Gly1405Ala)
c.4205G>C (p.Gly1402Ala)
c.2543G>C (p.Gly848Ala)
Xg.108681880G>TCA413852461COL4A5c.4208G>T (p.Gly1403Val)
c.4190G>T (p.Gly1397Val)
n.702G>T
n.611G>T
c.4G>T
c.4199G>T (p.Gly1400Val)
c.3884G>T (p.Gly1295Val)
c.1781G>T (p.Gly594Val)
c.4223G>T (p.Gly1408Val)
c.4214G>T (p.Gly1405Val)
c.4205G>T (p.Gly1402Val)
c.2543G>T (p.Gly848Val)
Xg.108681881C>ACA517923884COL4A5c.4209C>A (p.Gly1403=)
c.4191C>A (p.Gly1397=)
n.703C>A
n.612C>A
c.5C>A
c.4200C>A (p.Gly1400=)
c.3885C>A (p.Gly1295=)
c.1782C>A (p.Gly594=)
c.4224C>A (p.Gly1408=)
c.4215C>A (p.Gly1405=)
c.4206C>A (p.Gly1402=)
c.2544C>A (p.Gly848=)
Xg.108681881C=CA2450717261COL4A5c.4209C= (p.Gly1403=)
c.4191C= (p.Gly1397=)
n.703C=
n.612C=
c.5C=
c.4200C= (p.Gly1400=)
c.3885C= (p.Gly1295=)
c.1782C= (p.Gly594=)
c.4224C= (p.Gly1408=)
c.4215C= (p.Gly1405=)
c.4206C= (p.Gly1402=)
c.2544C= (p.Gly848=)
Xg.108681881C>GCA517923885COL4A5c.4209C>G (p.Gly1403=)
c.4191C>G (p.Gly1397=)
n.703C>G
n.612C>G
c.5C>G
c.4200C>G (p.Gly1400=)
c.3885C>G (p.Gly1295=)
c.1782C>G (p.Gly594=)
c.4224C>G (p.Gly1408=)
c.4215C>G (p.Gly1405=)
c.4206C>G (p.Gly1402=)
c.2544C>G (p.Gly848=)
Xg.108681881C>TCA10489303COL4A5c.4209C>T (p.Gly1403=)
c.4191C>T (p.Gly1397=)
n.703C>T
n.612C>T
c.5C>T
c.4200C>T (p.Gly1400=)
c.3885C>T (p.Gly1295=)
c.1782C>T (p.Gly594=)
c.4224C>T (p.Gly1408=)
c.4215C>T (p.Gly1405=)
c.4206C>T (p.Gly1402=)
c.2544C>T (p.Gly848=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108681882T>ACA413852475COL4A5c.4210T>A (p.Leu1404Ile)
c.4192T>A (p.Leu1398Ile)
n.704T>A
n.613T>A
c.6T>A
c.4201T>A (p.Leu1401Ile)
c.3886T>A (p.Leu1296Ile)
c.1783T>A (p.Leu595Ile)
c.4225T>A (p.Leu1409Ile)
c.4216T>A (p.Leu1406Ile)
c.4207T>A (p.Leu1403Ile)
c.2545T>A (p.Leu849Ile)
Xg.108681882T>CCA517923887COL4A5c.4210T>C (p.Leu1404=)
c.4192T>C (p.Leu1398=)
n.704T>C
n.613T>C
c.6T>C
c.4201T>C (p.Leu1401=)
c.3886T>C (p.Leu1296=)
c.1783T>C (p.Leu595=)
c.4225T>C (p.Leu1409=)
c.4216T>C (p.Leu1406=)
c.4207T>C (p.Leu1403=)
c.2545T>C (p.Leu849=)
Xg.108681882T>GCA413852478COL4A5c.4210T>G (p.Leu1404Val)
c.4192T>G (p.Leu1398Val)
n.704T>G
n.613T>G
c.6T>G
c.4201T>G (p.Leu1401Val)
c.3886T>G (p.Leu1296Val)
c.1783T>G (p.Leu595Val)
c.4225T>G (p.Leu1409Val)
c.4216T>G (p.Leu1406Val)
c.4207T>G (p.Leu1403Val)
c.2545T>G (p.Leu849Val)
Xg.108681883T>ACA413852485COL4A5c.4211T>A (p.Leu1404Ter)
c.4193T>A (p.Leu1398Ter)
n.705T>A
n.614T>A
c.7T>A
c.4202T>A (p.Leu1401Ter)
c.3887T>A (p.Leu1296Ter)
c.1784T>A (p.Leu595Ter)
c.4226T>A (p.Leu1409Ter)
c.4217T>A (p.Leu1406Ter)
c.4208T>A (p.Leu1403Ter)
c.2546T>A (p.Leu849Ter)
 ClinVar
Xg.108681883T>CCA413852487COL4A5c.4211T>C (p.Leu1404Ser)
c.4193T>C (p.Leu1398Ser)
n.705T>C
n.614T>C
c.7T>C
c.4202T>C (p.Leu1401Ser)
c.3887T>C (p.Leu1296Ser)
c.1784T>C (p.Leu595Ser)
c.4226T>C (p.Leu1409Ser)
c.4217T>C (p.Leu1406Ser)
c.4208T>C (p.Leu1403Ser)
c.2546T>C (p.Leu849Ser)
Xg.108681883T>GCA413852497COL4A5c.4211T>G (p.Leu1404Ter)
c.4193T>G (p.Leu1398Ter)
n.705T>G
n.614T>G
c.7T>G
c.4202T>G (p.Leu1401Ter)
c.3887T>G (p.Leu1296Ter)
c.1784T>G (p.Leu595Ter)
c.4226T>G (p.Leu1409Ter)
c.4217T>G (p.Leu1406Ter)
c.4208T>G (p.Leu1403Ter)
c.2546T>G (p.Leu849Ter)
Xg.108681884A=CA2450717262COL4A5c.4212A= (p.Leu1404=)
c.4194A= (p.Leu1398=)
n.706A=
n.615A=
c.8A=
c.4203A= (p.Leu1401=)
c.3888A= (p.Leu1296=)
c.1785A= (p.Leu595=)
c.4227A= (p.Leu1409=)
c.4218A= (p.Leu1406=)
c.4209A= (p.Leu1403=)
c.2547A= (p.Leu849=)
Xg.108681884A>CCA413852504COL4A5c.4212A>C (p.Leu1404Phe)
c.4194A>C (p.Leu1398Phe)
n.706A>C
n.615A>C
c.8A>C
c.4203A>C (p.Leu1401Phe)
c.3888A>C (p.Leu1296Phe)
c.1785A>C (p.Leu595Phe)
c.4227A>C (p.Leu1409Phe)
c.4218A>C (p.Leu1406Phe)
c.4209A>C (p.Leu1403Phe)
c.2547A>C (p.Leu849Phe)
Xg.108681884A>GCA517923888COL4A5c.4212A>G (p.Leu1404=)
c.4194A>G (p.Leu1398=)
n.706A>G
n.615A>G
c.8A>G
c.4203A>G (p.Leu1401=)
c.3888A>G (p.Leu1296=)
c.1785A>G (p.Leu595=)
c.4227A>G (p.Leu1409=)
c.4218A>G (p.Leu1406=)
c.4209A>G (p.Leu1403=)
c.2547A>G (p.Leu849=)
Xg.108681884A>TCA413852505COL4A5c.4212A>T (p.Leu1404Phe)
c.4194A>T (p.Leu1398Phe)
n.706A>T
n.615A>T
c.8A>T
c.4203A>T (p.Leu1401Phe)
c.3888A>T (p.Leu1296Phe)
c.1785A>T (p.Leu595Phe)
c.4227A>T (p.Leu1409Phe)
c.4218A>T (p.Leu1406Phe)
c.4209A>T (p.Leu1403Phe)
c.2547A>T (p.Leu849Phe)
Xg.108681885C>ACA413852508COL4A5c.4213C>A (p.Pro1405Thr)
c.4195C>A (p.Pro1399Thr)
n.707C>A
n.616C>A
c.9C>A
c.4204C>A (p.Pro1402Thr)
c.3889C>A (p.Pro1297Thr)
c.1786C>A (p.Pro596Thr)
c.4228C>A (p.Pro1410Thr)
c.4219C>A (p.Pro1407Thr)
c.4210C>A (p.Pro1404Thr)
c.2548C>A (p.Pro850Thr)
Xg.108681885C=CA2450717263COL4A5c.4213C= (p.Pro1405=)
c.4195C= (p.Pro1399=)
n.707C=
n.616C=
c.9C=
c.4204C= (p.Pro1402=)
c.3889C= (p.Pro1297=)
c.1786C= (p.Pro596=)
c.4228C= (p.Pro1410=)
c.4219C= (p.Pro1407=)
c.4210C= (p.Pro1404=)
c.2548C= (p.Pro850=)
Xg.108681885C>GCA10489304COL4A5c.4213C>G (p.Pro1405Ala)
c.4195C>G (p.Pro1399Ala)
n.707C>G
n.616C>G
c.9C>G
c.4204C>G (p.Pro1402Ala)
c.3889C>G (p.Pro1297Ala)
c.1786C>G (p.Pro596Ala)
c.4228C>G (p.Pro1410Ala)
c.4219C>G (p.Pro1407Ala)
c.4210C>G (p.Pro1404Ala)
c.2548C>G (p.Pro850Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108681885C>TCA413852511COL4A5c.4213C>T (p.Pro1405Ser)
c.4195C>T (p.Pro1399Ser)
n.707C>T
n.616C>T
c.9C>T
c.4204C>T (p.Pro1402Ser)
c.3889C>T (p.Pro1297Ser)
c.1786C>T (p.Pro596Ser)
c.4228C>T (p.Pro1410Ser)
c.4219C>T (p.Pro1407Ser)
c.4210C>T (p.Pro1404Ser)
c.2548C>T (p.Pro850Ser)
 gnomAD v4
Xg.108681886dupCA259002COL4A5c.4214dup (p.Gly1406ArgfsTer18)
c.4196dup (p.Gly1400ArgfsTer18)
n.708dup
n.617dup
c.10dup
c.4205dup (p.Gly1403ArgfsTer18)
c.3890dup (p.Gly1298ArgfsTer18)
c.1787dup (p.Gly597ArgfsTer18)
c.4229dup (p.Gly1411ArgfsTer18)
c.4220dup (p.Gly1408ArgfsTer18)
c.4211dup (p.Gly1405ArgfsTer18)
c.2549dup (p.Gly851ArgfsTer18)
 dbSNP
Xg.108681886C>ACA413852514COL4A5c.4214C>A (p.Pro1405Gln)
c.4196C>A (p.Pro1399Gln)
n.708C>A
n.617C>A
c.10C>A
c.4205C>A (p.Pro1402Gln)
c.3890C>A (p.Pro1297Gln)
c.1787C>A (p.Pro596Gln)
c.4229C>A (p.Pro1410Gln)
c.4220C>A (p.Pro1407Gln)
c.4211C>A (p.Pro1404Gln)
c.2549C>A (p.Pro850Gln)
Xg.108681886C>GCA413852519COL4A5c.4214C>G (p.Pro1405Arg)
c.4196C>G (p.Pro1399Arg)
n.708C>G
n.617C>G
c.10C>G
c.4205C>G (p.Pro1402Arg)
c.3890C>G (p.Pro1297Arg)
c.1787C>G (p.Pro596Arg)
c.4229C>G (p.Pro1410Arg)
c.4220C>G (p.Pro1407Arg)
c.4211C>G (p.Pro1404Arg)
c.2549C>G (p.Pro850Arg)
Xg.108681886C>TCA413852516COL4A5c.4214C>T (p.Pro1405Leu)
c.4196C>T (p.Pro1399Leu)
n.708C>T
n.617C>T
c.10C>T
c.4205C>T (p.Pro1402Leu)
c.3890C>T (p.Pro1297Leu)
c.1787C>T (p.Pro596Leu)
c.4229C>T (p.Pro1410Leu)
c.4220C>T (p.Pro1407Leu)
c.4211C>T (p.Pro1404Leu)
c.2549C>T (p.Pro850Leu)
Xg.108681887A>CCA517923889COL4A5c.4215A>C (p.Pro1405=)
c.4197A>C (p.Pro1399=)
n.709A>C
n.618A>C
c.11A>C
c.4206A>C (p.Pro1402=)
c.3891A>C (p.Pro1297=)
c.1788A>C (p.Pro596=)
c.4230A>C (p.Pro1410=)
c.4221A>C (p.Pro1407=)
c.4212A>C (p.Pro1404=)
c.2550A>C (p.Pro850=)
Xg.108681887A>GCA517923890COL4A5c.4215A>G (p.Pro1405=)
c.4197A>G (p.Pro1399=)
n.709A>G
n.618A>G
c.11A>G
c.4206A>G (p.Pro1402=)
c.3891A>G (p.Pro1297=)
c.1788A>G (p.Pro596=)
c.4230A>G (p.Pro1410=)
c.4221A>G (p.Pro1407=)
c.4212A>G (p.Pro1404=)
c.2550A>G (p.Pro850=)
 gnomAD v4
Xg.108681887A>TCA517923891COL4A5c.4215A>T (p.Pro1405=)
c.4197A>T (p.Pro1399=)
n.709A>T
n.618A>T
c.11A>T
c.4206A>T (p.Pro1402=)
c.3891A>T (p.Pro1297=)
c.1788A>T (p.Pro596=)
c.4230A>T (p.Pro1410=)
c.4221A>T (p.Pro1407=)
c.4212A>T (p.Pro1404=)
c.2550A>T (p.Pro850=)
Xg.108681887_108681889delinsAGGCA2450717264COL4A5c.4215_4216+1delinsAGG
c.4197_4198+1delinsAGG
n.709_710+1delinsAGG
n.618_619+1delinsAGG
c.11_12+1delinsAGG
c.4206_4207+1delinsAGG
c.3891_3892+1delinsAGG
c.1788_1789+1delinsAGG
c.4230_4231+1delinsAGG
c.4221_4222+1delinsAGG
c.4212_4213+1delinsAGG
c.2550_2551+1delinsAGG
Xg.108681888G>ACA413852522COL4A5c.4216G>A (p.Gly1406Ser)
c.4198G>A (p.Gly1400Ser)
n.710G>A
n.619G>A
c.12G>A
c.4207G>A (p.Gly1403Ser)
c.3892G>A (p.Gly1298Ser)
c.1789G>A (p.Gly597Ser)
c.4231G>A (p.Gly1411Ser)
c.4222G>A (p.Gly1408Ser)
c.4213G>A (p.Gly1405Ser)
c.2551G>A (p.Gly851Ser)
Xg.108681888G>CCA413852526COL4A5c.4216G>C (p.Gly1406Arg)
c.4198G>C (p.Gly1400Arg)
n.710G>C
n.619G>C
c.12G>C
c.4207G>C (p.Gly1403Arg)
c.3892G>C (p.Gly1298Arg)
c.1789G>C (p.Gly597Arg)
c.4231G>C (p.Gly1411Arg)
c.4222G>C (p.Gly1408Arg)
c.4213G>C (p.Gly1405Arg)
c.2551G>C (p.Gly851Arg)
Xg.108681888G>TCA413852523COL4A5c.4216G>T (p.Gly1406Cys)
c.4198G>T (p.Gly1400Cys)
n.710G>T
n.619G>T
c.12G>T
c.4207G>T (p.Gly1403Cys)
c.3892G>T (p.Gly1298Cys)
c.1789G>T (p.Gly597Cys)
c.4231G>T (p.Gly1411Cys)
c.4222G>T (p.Gly1408Cys)
c.4213G>T (p.Gly1405Cys)
c.2551G>T (p.Gly851Cys)
Xg.108681888_108681889delCA891843688COL4A5c.4216_4216+1del
c.4198_4198+1del
n.710_710+1del
n.619_619+1del
c.12_12+1del
c.4207_4207+1del
c.3892_3892+1del
c.1789_1789+1del
c.4231_4231+1del
c.4222_4222+1del
c.4213_4213+1del
c.2551_2551+1del

Number of alleles fetched