Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108686048G>ACA413853438COL4A5c.4234G>A (p.Gly1412Arg)
c.4216G>A (p.Gly1406Arg)
n.728G>A
n.637G>A
c.30G>A
c.4225G>A (p.Gly1409Arg)
c.3910G>A (p.Gly1304Arg)
c.1807G>A (p.Gly603Arg)
c.4249G>A (p.Gly1417Arg)
c.4240G>A (p.Gly1414Arg)
c.4231G>A (p.Gly1411Arg)
c.2569G>A (p.Gly857Arg)
Xg.108686048G>CCA413853440COL4A5c.4234G>C (p.Gly1412Arg)
c.4216G>C (p.Gly1406Arg)
n.728G>C
n.637G>C
c.30G>C
c.4225G>C (p.Gly1409Arg)
c.3910G>C (p.Gly1304Arg)
c.1807G>C (p.Gly603Arg)
c.4249G>C (p.Gly1417Arg)
c.4240G>C (p.Gly1414Arg)
c.4231G>C (p.Gly1411Arg)
c.2569G>C (p.Gly857Arg)
Xg.108686048G>TCA413853442COL4A5c.4234G>T (p.Gly1412Ter)
c.4216G>T (p.Gly1406Ter)
n.728G>T
n.637G>T
c.30G>T
c.4225G>T (p.Gly1409Ter)
c.3910G>T (p.Gly1304Ter)
c.1807G>T (p.Gly603Ter)
c.4249G>T (p.Gly1417Ter)
c.4240G>T (p.Gly1414Ter)
c.4231G>T (p.Gly1411Ter)
c.2569G>T (p.Gly857Ter)
Xg.108686049G>ACA413853447COL4A5c.4235G>A (p.Gly1412Glu)
c.4217G>A (p.Gly1406Glu)
n.729G>A
n.638G>A
c.31G>A
c.4226G>A (p.Gly1409Glu)
c.3911G>A (p.Gly1304Glu)
c.1808G>A (p.Gly603Glu)
c.4250G>A (p.Gly1417Glu)
c.4241G>A (p.Gly1414Glu)
c.4232G>A (p.Gly1411Glu)
c.2570G>A (p.Gly857Glu)
Xg.108686049G>CCA413853450COL4A5c.4235G>C (p.Gly1412Ala)
c.4217G>C (p.Gly1406Ala)
n.729G>C
n.638G>C
c.31G>C
c.4226G>C (p.Gly1409Ala)
c.3911G>C (p.Gly1304Ala)
c.1808G>C (p.Gly603Ala)
c.4250G>C (p.Gly1417Ala)
c.4241G>C (p.Gly1414Ala)
c.4232G>C (p.Gly1411Ala)
c.2570G>C (p.Gly857Ala)
Xg.108686049G>TCA413853445COL4A5c.4235G>T (p.Gly1412Val)
c.4217G>T (p.Gly1406Val)
n.729G>T
n.638G>T
c.31G>T
c.4226G>T (p.Gly1409Val)
c.3911G>T (p.Gly1304Val)
c.1808G>T (p.Gly603Val)
c.4250G>T (p.Gly1417Val)
c.4241G>T (p.Gly1414Val)
c.4232G>T (p.Gly1411Val)
c.2570G>T (p.Gly857Val)
Xg.108686050A>CCA517924054COL4A5c.4236A>C (p.Gly1412=)
c.4218A>C (p.Gly1406=)
n.730A>C
n.639A>C
c.32A>C
c.4227A>C (p.Gly1409=)
c.3912A>C (p.Gly1304=)
c.1809A>C (p.Gly603=)
c.4251A>C (p.Gly1417=)
c.4242A>C (p.Gly1414=)
c.4233A>C (p.Gly1411=)
c.2571A>C (p.Gly857=)
Xg.108686050A>GCA517924055COL4A5c.4236A>G (p.Gly1412=)
c.4218A>G (p.Gly1406=)
n.730A>G
n.639A>G
c.32A>G
c.4227A>G (p.Gly1409=)
c.3912A>G (p.Gly1304=)
c.1809A>G (p.Gly603=)
c.4251A>G (p.Gly1417=)
c.4242A>G (p.Gly1414=)
c.4233A>G (p.Gly1411=)
c.2571A>G (p.Gly857=)
Xg.108686050A>TCA517924057COL4A5c.4236A>T (p.Gly1412=)
c.4218A>T (p.Gly1406=)
n.730A>T
n.639A>T
c.32A>T
c.4227A>T (p.Gly1409=)
c.3912A>T (p.Gly1304=)
c.1809A>T (p.Gly603=)
c.4251A>T (p.Gly1417=)
c.4242A>T (p.Gly1414=)
c.4233A>T (p.Gly1411=)
c.2571A>T (p.Gly857=)
Xg.108686051G>ACA413853453COL4A5c.4237G>A (p.Asp1413Asn)
c.4219G>A (p.Asp1407Asn)
n.731G>A
n.640G>A
c.33G>A
c.4228G>A (p.Asp1410Asn)
c.3913G>A (p.Asp1305Asn)
c.1810G>A (p.Asp604Asn)
c.4252G>A (p.Asp1418Asn)
c.4243G>A (p.Asp1415Asn)
c.4234G>A (p.Asp1412Asn)
c.2572G>A (p.Asp858Asn)
COSMIC COSMIC
Xg.108686051G>CCA413853456COL4A5c.4237G>C (p.Asp1413His)
c.4219G>C (p.Asp1407His)
n.731G>C
n.640G>C
c.33G>C
c.4228G>C (p.Asp1410His)
c.3913G>C (p.Asp1305His)
c.1810G>C (p.Asp604His)
c.4252G>C (p.Asp1418His)
c.4243G>C (p.Asp1415His)
c.4234G>C (p.Asp1412His)
c.2572G>C (p.Asp858His)
Xg.108686051G>TCA413853457COL4A5c.4237G>T (p.Asp1413Tyr)
c.4219G>T (p.Asp1407Tyr)
n.731G>T
n.640G>T
c.33G>T
c.4228G>T (p.Asp1410Tyr)
c.3913G>T (p.Asp1305Tyr)
c.1810G>T (p.Asp604Tyr)
c.4252G>T (p.Asp1418Tyr)
c.4243G>T (p.Asp1415Tyr)
c.4234G>T (p.Asp1412Tyr)
c.2572G>T (p.Asp858Tyr)
Xg.108686052A>CCA413853462COL4A5c.4238A>C (p.Asp1413Ala)
c.4220A>C (p.Asp1407Ala)
n.732A>C
n.641A>C
c.34A>C
c.4229A>C (p.Asp1410Ala)
c.3914A>C (p.Asp1305Ala)
c.1811A>C (p.Asp604Ala)
c.4253A>C (p.Asp1418Ala)
c.4244A>C (p.Asp1415Ala)
c.4235A>C (p.Asp1412Ala)
c.2573A>C (p.Asp858Ala)
Xg.108686052A>GCA413853465COL4A5c.4238A>G (p.Asp1413Gly)
c.4220A>G (p.Asp1407Gly)
n.732A>G
n.641A>G
c.34A>G
c.4229A>G (p.Asp1410Gly)
c.3914A>G (p.Asp1305Gly)
c.1811A>G (p.Asp604Gly)
c.4253A>G (p.Asp1418Gly)
c.4244A>G (p.Asp1415Gly)
c.4235A>G (p.Asp1412Gly)
c.2573A>G (p.Asp858Gly)
gnomAD v4 COSMIC
Xg.108686052A>TCA413853468COL4A5c.4238A>T (p.Asp1413Val)
c.4220A>T (p.Asp1407Val)
n.732A>T
n.641A>T
c.34A>T
c.4229A>T (p.Asp1410Val)
c.3914A>T (p.Asp1305Val)
c.1811A>T (p.Asp604Val)
c.4253A>T (p.Asp1418Val)
c.4244A>T (p.Asp1415Val)
c.4235A>T (p.Asp1412Val)
c.2573A>T (p.Asp858Val)
Xg.108686053T>ACA10489325COL4A5c.4239T>A (p.Asp1413Glu)
c.4221T>A (p.Asp1407Glu)
n.733T>A
n.642T>A
c.35T>A
c.4230T>A (p.Asp1410Glu)
c.3915T>A (p.Asp1305Glu)
c.1812T>A (p.Asp604Glu)
c.4254T>A (p.Asp1418Glu)
c.4245T>A (p.Asp1415Glu)
c.4236T>A (p.Asp1412Glu)
c.2574T>A (p.Asp858Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686053T>CCA517924059COL4A5c.4239T>C (p.Asp1413=)
c.4221T>C (p.Asp1407=)
n.733T>C
n.642T>C
c.35T>C
c.4230T>C (p.Asp1410=)
c.3915T>C (p.Asp1305=)
c.1812T>C (p.Asp604=)
c.4254T>C (p.Asp1418=)
c.4245T>C (p.Asp1415=)
c.4236T>C (p.Asp1412=)
c.2574T>C (p.Asp858=)
Xg.108686053T>GCA413853472COL4A5c.4239T>G (p.Asp1413Glu)
c.4221T>G (p.Asp1407Glu)
n.733T>G
n.642T>G
c.35T>G
c.4230T>G (p.Asp1410Glu)
c.3915T>G (p.Asp1305Glu)
c.1812T>G (p.Asp604Glu)
c.4254T>G (p.Asp1418Glu)
c.4245T>G (p.Asp1415Glu)
c.4236T>G (p.Asp1412Glu)
c.2574T>G (p.Asp858Glu)
Xg.108686053T=CA2450718757COL4A5c.4239T= (p.Asp1413=)
c.4221T= (p.Asp1407=)
n.733T=
n.642T=
c.35T=
c.4230T= (p.Asp1410=)
c.3915T= (p.Asp1305=)
c.1812T= (p.Asp604=)
c.4254T= (p.Asp1418=)
c.4245T= (p.Asp1415=)
c.4236T= (p.Asp1412=)
c.2574T= (p.Asp858=)
Xg.108686054C>ACA413853475COL4A5c.4240C>A (p.Pro1414Thr)
c.4222C>A (p.Pro1408Thr)
n.734C>A
n.643C>A
c.36C>A
c.4231C>A (p.Pro1411Thr)
c.3916C>A (p.Pro1306Thr)
c.1813C>A (p.Pro605Thr)
c.4255C>A (p.Pro1419Thr)
c.4246C>A (p.Pro1416Thr)
c.4237C>A (p.Pro1413Thr)
c.2575C>A (p.Pro859Thr)
Xg.108686054C>GCA413853476COL4A5c.4240C>G (p.Pro1414Ala)
c.4222C>G (p.Pro1408Ala)
n.734C>G
n.643C>G
c.36C>G
c.4231C>G (p.Pro1411Ala)
c.3916C>G (p.Pro1306Ala)
c.1813C>G (p.Pro605Ala)
c.4255C>G (p.Pro1419Ala)
c.4246C>G (p.Pro1416Ala)
c.4237C>G (p.Pro1413Ala)
c.2575C>G (p.Pro859Ala)
Xg.108686054C>TCA413853478COL4A5c.4240C>T (p.Pro1414Ser)
c.4222C>T (p.Pro1408Ser)
n.734C>T
n.643C>T
c.36C>T
c.4231C>T (p.Pro1411Ser)
c.3916C>T (p.Pro1306Ser)
c.1813C>T (p.Pro605Ser)
c.4255C>T (p.Pro1419Ser)
c.4246C>T (p.Pro1416Ser)
c.4237C>T (p.Pro1413Ser)
c.2575C>T (p.Pro859Ser)
Xg.108686055C>ACA413853479COL4A5c.4241C>A (p.Pro1414His)
c.4223C>A (p.Pro1408His)
n.735C>A
n.644C>A
c.37C>A
c.4232C>A (p.Pro1411His)
c.3917C>A (p.Pro1306His)
c.1814C>A (p.Pro605His)
c.4256C>A (p.Pro1419His)
c.4247C>A (p.Pro1416His)
c.4238C>A (p.Pro1413His)
c.2576C>A (p.Pro859His)
Xg.108686055C>GCA413853482COL4A5c.4241C>G (p.Pro1414Arg)
c.4223C>G (p.Pro1408Arg)
n.735C>G
n.644C>G
c.37C>G
c.4232C>G (p.Pro1411Arg)
c.3917C>G (p.Pro1306Arg)
c.1814C>G (p.Pro605Arg)
c.4256C>G (p.Pro1419Arg)
c.4247C>G (p.Pro1416Arg)
c.4238C>G (p.Pro1413Arg)
c.2576C>G (p.Pro859Arg)
Xg.108686055C>TCA413853484COL4A5c.4241C>T (p.Pro1414Leu)
c.4223C>T (p.Pro1408Leu)
n.735C>T
n.644C>T
c.37C>T
c.4232C>T (p.Pro1411Leu)
c.3917C>T (p.Pro1306Leu)
c.1814C>T (p.Pro605Leu)
c.4256C>T (p.Pro1419Leu)
c.4247C>T (p.Pro1416Leu)
c.4238C>T (p.Pro1413Leu)
c.2576C>T (p.Pro859Leu)
Xg.108686056T>ACA517924064COL4A5c.4242T>A (p.Pro1414=)
c.4224T>A (p.Pro1408=)
n.736T>A
n.645T>A
c.38T>A
c.4233T>A (p.Pro1411=)
c.3918T>A (p.Pro1306=)
c.1815T>A (p.Pro605=)
c.4257T>A (p.Pro1419=)
c.4248T>A (p.Pro1416=)
c.4239T>A (p.Pro1413=)
c.2577T>A (p.Pro859=)
Xg.108686056T>CCA517924066COL4A5c.4242T>C (p.Pro1414=)
c.4224T>C (p.Pro1408=)
n.736T>C
n.645T>C
c.38T>C
c.4233T>C (p.Pro1411=)
c.3918T>C (p.Pro1306=)
c.1815T>C (p.Pro605=)
c.4257T>C (p.Pro1419=)
c.4248T>C (p.Pro1416=)
c.4239T>C (p.Pro1413=)
c.2577T>C (p.Pro859=)
Xg.108686056T>GCA517924068COL4A5c.4242T>G (p.Pro1414=)
c.4224T>G (p.Pro1408=)
n.736T>G
n.645T>G
c.38T>G
c.4233T>G (p.Pro1411=)
c.3918T>G (p.Pro1306=)
c.1815T>G (p.Pro605=)
c.4257T>G (p.Pro1419=)
c.4248T>G (p.Pro1416=)
c.4239T>G (p.Pro1413=)
c.2577T>G (p.Pro859=)
Xg.108686057G>ACA413853486COL4A5c.4243G>A (p.Gly1415Arg)
c.4225G>A (p.Gly1409Arg)
n.737G>A
n.646G>A
c.39G>A
c.4234G>A (p.Gly1412Arg)
c.3919G>A (p.Gly1307Arg)
c.1816G>A (p.Gly606Arg)
c.4258G>A (p.Gly1420Arg)
c.4249G>A (p.Gly1417Arg)
c.4240G>A (p.Gly1414Arg)
c.2578G>A (p.Gly860Arg)
Xg.108686057G>CCA413853490COL4A5c.4243G>C (p.Gly1415Arg)
c.4225G>C (p.Gly1409Arg)
n.737G>C
n.646G>C
c.39G>C
c.4234G>C (p.Gly1412Arg)
c.3919G>C (p.Gly1307Arg)
c.1816G>C (p.Gly606Arg)
c.4258G>C (p.Gly1420Arg)
c.4249G>C (p.Gly1417Arg)
c.4240G>C (p.Gly1414Arg)
c.2578G>C (p.Gly860Arg)
Xg.108686057G>TCA413853488COL4A5c.4243G>T (p.Gly1415Ter)
c.4225G>T (p.Gly1409Ter)
n.737G>T
n.646G>T
c.39G>T
c.4234G>T (p.Gly1412Ter)
c.3919G>T (p.Gly1307Ter)
c.1816G>T (p.Gly606Ter)
c.4258G>T (p.Gly1420Ter)
c.4249G>T (p.Gly1417Ter)
c.4240G>T (p.Gly1414Ter)
c.2578G>T (p.Gly860Ter)
Xg.108686058delCA2579677125COL4A5c.4244del (p.Gly1415AspfsTer?)
c.4226del (p.Gly1409AspfsTer?)
n.738del
n.647del
c.40del
c.4235del (p.Gly1412AspfsTer?)
c.3920del (p.Gly1307AspfsTer?)
c.1817del (p.Gly606AspfsTer?)
c.4259del (p.Gly1420AspfsTer?)
c.4250del (p.Gly1417AspfsTer?)
c.4241del (p.Gly1414AspfsTer?)
c.2579del (p.Gly860AspfsTer?)
Xg.108686058G>ACA413853494COL4A5c.4244G>A (p.Gly1415Glu)
c.4226G>A (p.Gly1409Glu)
n.738G>A
n.647G>A
c.40G>A
c.4235G>A (p.Gly1412Glu)
c.3920G>A (p.Gly1307Glu)
c.1817G>A (p.Gly606Glu)
c.4259G>A (p.Gly1420Glu)
c.4250G>A (p.Gly1417Glu)
c.4241G>A (p.Gly1414Glu)
c.2579G>A (p.Gly860Glu)
Xg.108686058G>CCA413853498COL4A5c.4244G>C (p.Gly1415Ala)
c.4226G>C (p.Gly1409Ala)
n.738G>C
n.647G>C
c.40G>C
c.4235G>C (p.Gly1412Ala)
c.3920G>C (p.Gly1307Ala)
c.1817G>C (p.Gly606Ala)
c.4259G>C (p.Gly1420Ala)
c.4250G>C (p.Gly1417Ala)
c.4241G>C (p.Gly1414Ala)
c.2579G>C (p.Gly860Ala)
Xg.108686058G>TCA413853496COL4A5c.4244G>T (p.Gly1415Val)
c.4226G>T (p.Gly1409Val)
n.738G>T
n.647G>T
c.40G>T
c.4235G>T (p.Gly1412Val)
c.3920G>T (p.Gly1307Val)
c.1817G>T (p.Gly606Val)
c.4259G>T (p.Gly1420Val)
c.4250G>T (p.Gly1417Val)
c.4241G>T (p.Gly1414Val)
c.2579G>T (p.Gly860Val)
gnomAD v4
Xg.108686059A>CCA517924071COL4A5c.4245A>C (p.Gly1415=)
c.4227A>C (p.Gly1409=)
n.739A>C
n.648A>C
c.41A>C
c.4236A>C (p.Gly1412=)
c.3921A>C (p.Gly1307=)
c.1818A>C (p.Gly606=)
c.4260A>C (p.Gly1420=)
c.4251A>C (p.Gly1417=)
c.4242A>C (p.Gly1414=)
c.2580A>C (p.Gly860=)
ClinVar dbSNP
Xg.108686059A>GCA517924072COL4A5c.4245A>G (p.Gly1415=)
c.4227A>G (p.Gly1409=)
n.739A>G
n.648A>G
c.41A>G
c.4236A>G (p.Gly1412=)
c.3921A>G (p.Gly1307=)
c.1818A>G (p.Gly606=)
c.4260A>G (p.Gly1420=)
c.4251A>G (p.Gly1417=)
c.4242A>G (p.Gly1414=)
c.2580A>G (p.Gly860=)
Xg.108686059A>TCA517924073COL4A5c.4245A>T (p.Gly1415=)
c.4227A>T (p.Gly1409=)
n.739A>T
n.648A>T
c.41A>T
c.4236A>T (p.Gly1412=)
c.3921A>T (p.Gly1307=)
c.1818A>T (p.Gly606=)
c.4260A>T (p.Gly1420=)
c.4251A>T (p.Gly1417=)
c.4242A>T (p.Gly1414=)
c.2580A>T (p.Gly860=)
Xg.108686060C>ACA413853502COL4A5c.4246C>A (p.Arg1416Ser)
c.4228C>A (p.Arg1410Ser)
n.740C>A
n.649C>A
c.42C>A
c.4237C>A (p.Arg1413Ser)
c.3922C>A (p.Arg1308Ser)
c.1819C>A (p.Arg607Ser)
c.4261C>A (p.Arg1421Ser)
c.4252C>A (p.Arg1418Ser)
c.4243C>A (p.Arg1415Ser)
c.2581C>A (p.Arg861Ser)
gnomAD v4
Xg.108686060C=CA2450718758COL4A5c.4246C= (p.Arg1416=)
c.4228C= (p.Arg1410=)
n.740C=
n.649C=
c.42C=
c.4237C= (p.Arg1413=)
c.3922C= (p.Arg1308=)
c.1819C= (p.Arg607=)
c.4261C= (p.Arg1421=)
c.4252C= (p.Arg1418=)
c.4243C= (p.Arg1415=)
c.2581C= (p.Arg861=)
Xg.108686060C>GCA413853503COL4A5c.4246C>G (p.Arg1416Gly)
c.4228C>G (p.Arg1410Gly)
n.740C>G
n.649C>G
c.42C>G
c.4237C>G (p.Arg1413Gly)
c.3922C>G (p.Arg1308Gly)
c.1819C>G (p.Arg607Gly)
c.4261C>G (p.Arg1421Gly)
c.4252C>G (p.Arg1418Gly)
c.4243C>G (p.Arg1415Gly)
c.2581C>G (p.Arg861Gly)
Xg.108686060C>TCA259005COL4A5c.4246C>T (p.Arg1416Cys)
c.4228C>T (p.Arg1410Cys)
n.740C>T
n.649C>T
c.42C>T
c.4237C>T (p.Arg1413Cys)
c.3922C>T (p.Arg1308Cys)
c.1819C>T (p.Arg607Cys)
c.4261C>T (p.Arg1421Cys)
c.4252C>T (p.Arg1418Cys)
c.4243C>T (p.Arg1415Cys)
c.2581C>T (p.Arg861Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686061G>ACA10489326COL4A5c.4247G>A (p.Arg1416His)
c.4229G>A (p.Arg1410His)
n.741G>A
n.650G>A
c.43G>A
c.4238G>A (p.Arg1413His)
c.3923G>A (p.Arg1308His)
c.1820G>A (p.Arg607His)
c.4262G>A (p.Arg1421His)
c.4253G>A (p.Arg1418His)
c.4244G>A (p.Arg1415His)
c.2582G>A (p.Arg861His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686061G>CCA413853506COL4A5c.4247G>C (p.Arg1416Pro)
c.4229G>C (p.Arg1410Pro)
n.741G>C
n.650G>C
c.43G>C
c.4238G>C (p.Arg1413Pro)
c.3923G>C (p.Arg1308Pro)
c.1820G>C (p.Arg607Pro)
c.4262G>C (p.Arg1421Pro)
c.4253G>C (p.Arg1418Pro)
c.4244G>C (p.Arg1415Pro)
c.2582G>C (p.Arg861Pro)
Xg.108686061G=CA2450718759COL4A5c.4247G= (p.Arg1416=)
c.4229G= (p.Arg1410=)
n.741G=
n.650G=
c.43G=
c.4238G= (p.Arg1413=)
c.3923G= (p.Arg1308=)
c.1820G= (p.Arg607=)
c.4262G= (p.Arg1421=)
c.4253G= (p.Arg1418=)
c.4244G= (p.Arg1415=)
c.2582G= (p.Arg861=)
Xg.108686061G>TCA413853507COL4A5c.4247G>T (p.Arg1416Leu)
c.4229G>T (p.Arg1410Leu)
n.741G>T
n.650G>T
c.43G>T
c.4238G>T (p.Arg1413Leu)
c.3923G>T (p.Arg1308Leu)
c.1820G>T (p.Arg607Leu)
c.4262G>T (p.Arg1421Leu)
c.4253G>T (p.Arg1418Leu)
c.4244G>T (p.Arg1415Leu)
c.2582G>T (p.Arg861Leu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686062C>ACA517924079COL4A5c.4248C>A (p.Arg1416=)
c.4230C>A (p.Arg1410=)
n.742C>A
n.651C>A
c.44C>A
c.4239C>A (p.Arg1413=)
c.3924C>A (p.Arg1308=)
c.1821C>A (p.Arg607=)
c.4263C>A (p.Arg1421=)
c.4254C>A (p.Arg1418=)
c.4245C>A (p.Arg1415=)
c.2583C>A (p.Arg861=)
Xg.108686062C=CA2450718760COL4A5c.4248C= (p.Arg1416=)
c.4230C= (p.Arg1410=)
n.742C=
n.651C=
c.44C=
c.4239C= (p.Arg1413=)
c.3924C= (p.Arg1308=)
c.1821C= (p.Arg607=)
c.4263C= (p.Arg1421=)
c.4254C= (p.Arg1418=)
c.4245C= (p.Arg1415=)
c.2583C= (p.Arg861=)
Xg.108686062C>GCA517924081COL4A5c.4248C>G (p.Arg1416=)
c.4230C>G (p.Arg1410=)
n.742C>G
n.651C>G
c.44C>G
c.4239C>G (p.Arg1413=)
c.3924C>G (p.Arg1308=)
c.1821C>G (p.Arg607=)
c.4263C>G (p.Arg1421=)
c.4254C>G (p.Arg1418=)
c.4245C>G (p.Arg1415=)
c.2583C>G (p.Arg861=)
gnomAD v4
Xg.108686062C>TCA517924082COL4A5c.4248C>T (p.Arg1416=)
c.4230C>T (p.Arg1410=)
n.742C>T
n.651C>T
c.44C>T
c.4239C>T (p.Arg1413=)
c.3924C>T (p.Arg1308=)
c.1821C>T (p.Arg607=)
c.4263C>T (p.Arg1421=)
c.4254C>T (p.Arg1418=)
c.4245C>T (p.Arg1415=)
c.2583C>T (p.Arg861=)
ClinVar dbSNP
Xg.108686063A>CCA413853513COL4A5c.4249A>C (p.Asn1417His)
c.4231A>C (p.Asn1411His)
n.743A>C
n.652A>C
c.45A>C
c.4240A>C (p.Asn1414His)
c.3925A>C (p.Asn1309His)
c.1822A>C (p.Asn608His)
c.4264A>C (p.Asn1422His)
c.4255A>C (p.Asn1419His)
c.4246A>C (p.Asn1416His)
c.2584A>C (p.Asn862His)
Xg.108686063A>GCA413853509COL4A5c.4249A>G (p.Asn1417Asp)
c.4231A>G (p.Asn1411Asp)
n.743A>G
n.652A>G
c.45A>G
c.4240A>G (p.Asn1414Asp)
c.3925A>G (p.Asn1309Asp)
c.1822A>G (p.Asn608Asp)
c.4264A>G (p.Asn1422Asp)
c.4255A>G (p.Asn1419Asp)
c.4246A>G (p.Asn1416Asp)
c.2584A>G (p.Asn862Asp)
gnomAD v4
Xg.108686063A>TCA413853511COL4A5c.4249A>T (p.Asn1417Tyr)
c.4231A>T (p.Asn1411Tyr)
n.743A>T
n.652A>T
c.45A>T
c.4240A>T (p.Asn1414Tyr)
c.3925A>T (p.Asn1309Tyr)
c.1822A>T (p.Asn608Tyr)
c.4264A>T (p.Asn1422Tyr)
c.4255A>T (p.Asn1419Tyr)
c.4246A>T (p.Asn1416Tyr)
c.2584A>T (p.Asn862Tyr)
Xg.108686064A>CCA413853517COL4A5c.4250A>C (p.Asn1417Thr)
c.4232A>C (p.Asn1411Thr)
n.744A>C
n.653A>C
c.46A>C
c.4241A>C (p.Asn1414Thr)
c.3926A>C (p.Asn1309Thr)
c.1823A>C (p.Asn608Thr)
c.4265A>C (p.Asn1422Thr)
c.4256A>C (p.Asn1419Thr)
c.4247A>C (p.Asn1416Thr)
c.2585A>C (p.Asn862Thr)
Xg.108686064A>GCA413853519COL4A5c.4250A>G (p.Asn1417Ser)
c.4232A>G (p.Asn1411Ser)
n.744A>G
n.653A>G
c.46A>G
c.4241A>G (p.Asn1414Ser)
c.3926A>G (p.Asn1309Ser)
c.1823A>G (p.Asn608Ser)
c.4265A>G (p.Asn1422Ser)
c.4256A>G (p.Asn1419Ser)
c.4247A>G (p.Asn1416Ser)
c.2585A>G (p.Asn862Ser)
gnomAD v4
Xg.108686064A>TCA413853522COL4A5c.4250A>T (p.Asn1417Ile)
c.4232A>T (p.Asn1411Ile)
n.744A>T
n.653A>T
c.46A>T
c.4241A>T (p.Asn1414Ile)
c.3926A>T (p.Asn1309Ile)
c.1823A>T (p.Asn608Ile)
c.4265A>T (p.Asn1422Ile)
c.4256A>T (p.Asn1419Ile)
c.4247A>T (p.Asn1416Ile)
c.2585A>T (p.Asn862Ile)
Xg.108686065T>ACA413853525COL4A5c.4251T>A (p.Asn1417Lys)
c.4233T>A (p.Asn1411Lys)
n.745T>A
n.654T>A
c.47T>A
c.4242T>A (p.Asn1414Lys)
c.3927T>A (p.Asn1309Lys)
c.1824T>A (p.Asn608Lys)
c.4266T>A (p.Asn1422Lys)
c.4257T>A (p.Asn1419Lys)
c.4248T>A (p.Asn1416Lys)
c.2586T>A (p.Asn862Lys)
Xg.108686065T>CCA517924088COL4A5c.4251T>C (p.Asn1417=)
c.4233T>C (p.Asn1411=)
n.745T>C
n.654T>C
c.47T>C
c.4242T>C (p.Asn1414=)
c.3927T>C (p.Asn1309=)
c.1824T>C (p.Asn608=)
c.4266T>C (p.Asn1422=)
c.4257T>C (p.Asn1419=)
c.4248T>C (p.Asn1416=)
c.2586T>C (p.Asn862=)
dbSNP gnomAD v2 gnomAD v4
Xg.108686065T>GCA413853526COL4A5c.4251T>G (p.Asn1417Lys)
c.4233T>G (p.Asn1411Lys)
n.745T>G
n.654T>G
c.47T>G
c.4242T>G (p.Asn1414Lys)
c.3927T>G (p.Asn1309Lys)
c.1824T>G (p.Asn608Lys)
c.4266T>G (p.Asn1422Lys)
c.4257T>G (p.Asn1419Lys)
c.4248T>G (p.Asn1416Lys)
c.2586T>G (p.Asn862Lys)
Xg.108686065T=CA2450718762COL4A5c.4251T= (p.Asn1417=)
c.4233T= (p.Asn1411=)
n.745T=
n.654T=
c.47T=
c.4242T= (p.Asn1414=)
c.3927T= (p.Asn1309=)
c.1824T= (p.Asn608=)
c.4266T= (p.Asn1422=)
c.4257T= (p.Asn1419=)
c.4248T= (p.Asn1416=)
c.2586T= (p.Asn862=)
Xg.108686065_108686066delinsTGCA2450718761COL4A5c.4251_4252delinsTG (p.Asn1417=)
c.4233_4234delinsTG (p.Asn1411=)
n.745_746delinsTG
n.654_655delinsTG
c.47_48delinsTG
c.4242_4243delinsTG (p.Asn1414=)
c.3927_3928delinsTG (p.Asn1309=)
c.1824_1825delinsTG (p.Asn608=)
c.4266_4267delinsTG (p.Asn1422=)
c.4257_4258delinsTG (p.Asn1419=)
c.4248_4249delinsTG (p.Asn1416=)
c.2586_2587delinsTG (p.Asn862=)
Xg.108686066G>ACA413853535COL4A5c.4252G>A (p.Gly1418Arg)
c.4234G>A (p.Gly1412Arg)
n.746G>A
n.655G>A
c.48G>A
c.4243G>A (p.Gly1415Arg)
c.3928G>A (p.Gly1310Arg)
c.1825G>A (p.Gly609Arg)
c.4267G>A (p.Gly1423Arg)
c.4258G>A (p.Gly1420Arg)
c.4249G>A (p.Gly1417Arg)
c.2587G>A (p.Gly863Arg)
COSMIC
Xg.108686066G>CCA413853532COL4A5c.4252G>C (p.Gly1418Arg)
c.4234G>C (p.Gly1412Arg)
n.746G>C
n.655G>C
c.48G>C
c.4243G>C (p.Gly1415Arg)
c.3928G>C (p.Gly1310Arg)
c.1825G>C (p.Gly609Arg)
c.4267G>C (p.Gly1423Arg)
c.4258G>C (p.Gly1420Arg)
c.4249G>C (p.Gly1417Arg)
c.2587G>C (p.Gly863Arg)
Xg.108686066G>TCA413853529COL4A5c.4252G>T (p.Gly1418Ter)
c.4234G>T (p.Gly1412Ter)
n.746G>T
n.655G>T
c.48G>T
c.4243G>T (p.Gly1415Ter)
c.3928G>T (p.Gly1310Ter)
c.1825G>T (p.Gly609Ter)
c.4267G>T (p.Gly1423Ter)
c.4258G>T (p.Gly1420Ter)
c.4249G>T (p.Gly1417Ter)
c.2587G>T (p.Gly863Ter)
Xg.108686067delCA261092COL4A5c.4253del (p.Gly1418AspfsTer?)
c.4235del (p.Gly1412AspfsTer?)
n.747del
n.656del
c.49del
c.4244del (p.Gly1415AspfsTer?)
c.3929del (p.Gly1310AspfsTer?)
c.1826del (p.Gly609AspfsTer?)
c.4268del (p.Gly1423AspfsTer?)
c.4259del (p.Gly1420AspfsTer?)
c.4250del (p.Gly1417AspfsTer?)
c.2588del (p.Gly863AspfsTer?)
dbSNP
Xg.108686067G>ACA413853538COL4A5c.4253G>A (p.Gly1418Glu)
c.4235G>A (p.Gly1412Glu)
n.747G>A
n.656G>A
c.49G>A
c.4244G>A (p.Gly1415Glu)
c.3929G>A (p.Gly1310Glu)
c.1826G>A (p.Gly609Glu)
c.4268G>A (p.Gly1423Glu)
c.4259G>A (p.Gly1420Glu)
c.4250G>A (p.Gly1417Glu)
c.2588G>A (p.Gly863Glu)
Xg.108686067G>CCA413853545COL4A5c.4253G>C (p.Gly1418Ala)
c.4235G>C (p.Gly1412Ala)
n.747G>C
n.656G>C
c.49G>C
c.4244G>C (p.Gly1415Ala)
c.3929G>C (p.Gly1310Ala)
c.1826G>C (p.Gly609Ala)
c.4268G>C (p.Gly1423Ala)
c.4259G>C (p.Gly1420Ala)
c.4250G>C (p.Gly1417Ala)
c.2588G>C (p.Gly863Ala)
Xg.108686067G>TCA413853548COL4A5c.4253G>T (p.Gly1418Val)
c.4235G>T (p.Gly1412Val)
n.747G>T
n.656G>T
c.49G>T
c.4244G>T (p.Gly1415Val)
c.3929G>T (p.Gly1310Val)
c.1826G>T (p.Gly609Val)
c.4268G>T (p.Gly1423Val)
c.4259G>T (p.Gly1420Val)
c.4250G>T (p.Gly1417Val)
c.2588G>T (p.Gly863Val)
COSMIC COSMIC
Xg.108686068A>CCA517924094COL4A5c.4254A>C (p.Gly1418=)
c.4236A>C (p.Gly1412=)
n.748A>C
n.657A>C
c.50A>C
c.4245A>C (p.Gly1415=)
c.3930A>C (p.Gly1310=)
c.1827A>C (p.Gly609=)
c.4269A>C (p.Gly1423=)
c.4260A>C (p.Gly1420=)
c.4251A>C (p.Gly1417=)
c.2589A>C (p.Gly863=)
Xg.108686068A>GCA517924095COL4A5c.4254A>G (p.Gly1418=)
c.4236A>G (p.Gly1412=)
n.748A>G
n.657A>G
c.50A>G
c.4245A>G (p.Gly1415=)
c.3930A>G (p.Gly1310=)
c.1827A>G (p.Gly609=)
c.4269A>G (p.Gly1423=)
c.4260A>G (p.Gly1420=)
c.4251A>G (p.Gly1417=)
c.2589A>G (p.Gly863=)
Xg.108686068A>TCA517924096COL4A5c.4254A>T (p.Gly1418=)
c.4236A>T (p.Gly1412=)
n.748A>T
n.657A>T
c.50A>T
c.4245A>T (p.Gly1415=)
c.3930A>T (p.Gly1310=)
c.1827A>T (p.Gly609=)
c.4269A>T (p.Gly1423=)
c.4260A>T (p.Gly1420=)
c.4251A>T (p.Gly1417=)
c.2589A>T (p.Gly863=)
Xg.108686069C>ACA413853552COL4A5c.4255C>A (p.Leu1419Ile)
c.4237C>A (p.Leu1413Ile)
n.749C>A
n.658C>A
c.51C>A
c.4246C>A (p.Leu1416Ile)
c.3931C>A (p.Leu1311Ile)
c.1828C>A (p.Leu610Ile)
c.4270C>A (p.Leu1424Ile)
c.4261C>A (p.Leu1421Ile)
c.4252C>A (p.Leu1418Ile)
c.2590C>A (p.Leu864Ile)
Xg.108686069C=CA2450718763COL4A5c.4255C= (p.Leu1419=)
c.4237C= (p.Leu1413=)
n.749C=
n.658C=
c.51C=
c.4246C= (p.Leu1416=)
c.3931C= (p.Leu1311=)
c.1828C= (p.Leu610=)
c.4270C= (p.Leu1424=)
c.4261C= (p.Leu1421=)
c.4252C= (p.Leu1418=)
c.2590C= (p.Leu864=)
Xg.108686069C>GCA413853555COL4A5c.4255C>G (p.Leu1419Val)
c.4237C>G (p.Leu1413Val)
n.749C>G
n.658C>G
c.51C>G
c.4246C>G (p.Leu1416Val)
c.3931C>G (p.Leu1311Val)
c.1828C>G (p.Leu610Val)
c.4270C>G (p.Leu1424Val)
c.4261C>G (p.Leu1421Val)
c.4252C>G (p.Leu1418Val)
c.2590C>G (p.Leu864Val)
Xg.108686069C>TCA413853557COL4A5c.4255C>T (p.Leu1419Phe)
c.4237C>T (p.Leu1413Phe)
n.749C>T
n.658C>T
c.51C>T
c.4246C>T (p.Leu1416Phe)
c.3931C>T (p.Leu1311Phe)
c.1828C>T (p.Leu610Phe)
c.4270C>T (p.Leu1424Phe)
c.4261C>T (p.Leu1421Phe)
c.4252C>T (p.Leu1418Phe)
c.2590C>T (p.Leu864Phe)
dbSNP gnomAD v3 gnomAD v4
Xg.108686070T>ACA413853560COL4A5c.4256T>A (p.Leu1419His)
c.4238T>A (p.Leu1413His)
n.750T>A
n.659T>A
c.52T>A
c.4247T>A (p.Leu1416His)
c.3932T>A (p.Leu1311His)
c.1829T>A (p.Leu610His)
c.4271T>A (p.Leu1424His)
c.4262T>A (p.Leu1421His)
c.4253T>A (p.Leu1418His)
c.2591T>A (p.Leu864His)
Xg.108686070T>CCA413853566COL4A5c.4256T>C (p.Leu1419Pro)
c.4238T>C (p.Leu1413Pro)
n.750T>C
n.659T>C
c.52T>C
c.4247T>C (p.Leu1416Pro)
c.3932T>C (p.Leu1311Pro)
c.1829T>C (p.Leu610Pro)
c.4271T>C (p.Leu1424Pro)
c.4262T>C (p.Leu1421Pro)
c.4253T>C (p.Leu1418Pro)
c.2591T>C (p.Leu864Pro)
Xg.108686070T>GCA413853563COL4A5c.4256T>G (p.Leu1419Arg)
c.4238T>G (p.Leu1413Arg)
n.750T>G
n.659T>G
c.52T>G
c.4247T>G (p.Leu1416Arg)
c.3932T>G (p.Leu1311Arg)
c.1829T>G (p.Leu610Arg)
c.4271T>G (p.Leu1424Arg)
c.4262T>G (p.Leu1421Arg)
c.4253T>G (p.Leu1418Arg)
c.2591T>G (p.Leu864Arg)
Xg.108686071C>ACA517924101COL4A5c.4257C>A (p.Leu1419=)
c.4239C>A (p.Leu1413=)
n.751C>A
n.660C>A
c.53C>A
c.4248C>A (p.Leu1416=)
c.3933C>A (p.Leu1311=)
c.1830C>A (p.Leu610=)
c.4272C>A (p.Leu1424=)
c.4263C>A (p.Leu1421=)
c.4254C>A (p.Leu1418=)
c.2592C>A (p.Leu864=)
Xg.108686071C=CA2450718764COL4A5c.4257C= (p.Leu1419=)
c.4239C= (p.Leu1413=)
n.751C=
n.660C=
c.53C=
c.4248C= (p.Leu1416=)
c.3933C= (p.Leu1311=)
c.1830C= (p.Leu610=)
c.4272C= (p.Leu1424=)
c.4263C= (p.Leu1421=)
c.4254C= (p.Leu1418=)
c.2592C= (p.Leu864=)
Xg.108686071C>GCA517924102COL4A5c.4257C>G (p.Leu1419=)
c.4239C>G (p.Leu1413=)
n.751C>G
n.660C>G
c.53C>G
c.4248C>G (p.Leu1416=)
c.3933C>G (p.Leu1311=)
c.1830C>G (p.Leu610=)
c.4272C>G (p.Leu1424=)
c.4263C>G (p.Leu1421=)
c.4254C>G (p.Leu1418=)
c.2592C>G (p.Leu864=)
Xg.108686071C>TCA259007COL4A5c.4257C>T (p.Leu1419=)
c.4239C>T (p.Leu1413=)
n.751C>T
n.660C>T
c.53C>T
c.4248C>T (p.Leu1416=)
c.3933C>T (p.Leu1311=)
c.1830C>T (p.Leu610=)
c.4272C>T (p.Leu1424=)
c.4263C>T (p.Leu1421=)
c.4254C>T (p.Leu1418=)
c.2592C>T (p.Leu864=)
dbSNP
Xg.108686072C>ACA413853571COL4A5c.4258C>A (p.Pro1420Thr)
c.4240C>A (p.Pro1414Thr)
n.752C>A
n.661C>A
c.54C>A
c.4249C>A (p.Pro1417Thr)
c.3934C>A (p.Pro1312Thr)
c.1831C>A (p.Pro611Thr)
c.4273C>A (p.Pro1425Thr)
c.4264C>A (p.Pro1422Thr)
c.4255C>A (p.Pro1419Thr)
c.2593C>A (p.Pro865Thr)
Xg.108686072C=CA2450718765COL4A5c.4258C= (p.Pro1420=)
c.4240C= (p.Pro1414=)
n.752C=
n.661C=
c.54C=
c.4249C= (p.Pro1417=)
c.3934C= (p.Pro1312=)
c.1831C= (p.Pro611=)
c.4273C= (p.Pro1425=)
c.4264C= (p.Pro1422=)
c.4255C= (p.Pro1419=)
c.2593C= (p.Pro865=)
Xg.108686072C>GCA413853574COL4A5c.4258C>G (p.Pro1420Ala)
c.4240C>G (p.Pro1414Ala)
n.752C>G
n.661C>G
c.54C>G
c.4249C>G (p.Pro1417Ala)
c.3934C>G (p.Pro1312Ala)
c.1831C>G (p.Pro611Ala)
c.4273C>G (p.Pro1425Ala)
c.4264C>G (p.Pro1422Ala)
c.4255C>G (p.Pro1419Ala)
c.2593C>G (p.Pro865Ala)
ClinVar
Xg.108686072C>TCA413853575COL4A5c.4258C>T (p.Pro1420Ser)
c.4240C>T (p.Pro1414Ser)
n.752C>T
n.661C>T
c.54C>T
c.4249C>T (p.Pro1417Ser)
c.3934C>T (p.Pro1312Ser)
c.1831C>T (p.Pro611Ser)
c.4273C>T (p.Pro1425Ser)
c.4264C>T (p.Pro1422Ser)
c.4255C>T (p.Pro1419Ser)
c.2593C>T (p.Pro865Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108686073C>ACA413853579COL4A5c.4259C>A (p.Pro1420His)
c.4241C>A (p.Pro1414His)
n.753C>A
n.662C>A
c.55C>A
c.4250C>A (p.Pro1417His)
c.3935C>A (p.Pro1312His)
c.1832C>A (p.Pro611His)
c.4274C>A (p.Pro1425His)
c.4265C>A (p.Pro1422His)
c.4256C>A (p.Pro1419His)
c.2594C>A (p.Pro865His)
Xg.108686073C>GCA413853584COL4A5c.4259C>G (p.Pro1420Arg)
c.4241C>G (p.Pro1414Arg)
n.753C>G
n.662C>G
c.55C>G
c.4250C>G (p.Pro1417Arg)
c.3935C>G (p.Pro1312Arg)
c.1832C>G (p.Pro611Arg)
c.4274C>G (p.Pro1425Arg)
c.4265C>G (p.Pro1422Arg)
c.4256C>G (p.Pro1419Arg)
c.2594C>G (p.Pro865Arg)
Xg.108686073C>TCA413853582COL4A5c.4259C>T (p.Pro1420Leu)
c.4241C>T (p.Pro1414Leu)
n.753C>T
n.662C>T
c.55C>T
c.4250C>T (p.Pro1417Leu)
c.3935C>T (p.Pro1312Leu)
c.1832C>T (p.Pro611Leu)
c.4274C>T (p.Pro1425Leu)
c.4265C>T (p.Pro1422Leu)
c.4256C>T (p.Pro1419Leu)
c.2594C>T (p.Pro865Leu)
gnomAD v4
Xg.108686074T>ACA517924108COL4A5c.4260T>A (p.Pro1420=)
c.4242T>A (p.Pro1414=)
n.754T>A
n.663T>A
c.56T>A
c.4251T>A (p.Pro1417=)
c.3936T>A (p.Pro1312=)
c.1833T>A (p.Pro611=)
c.4275T>A (p.Pro1425=)
c.4266T>A (p.Pro1422=)
c.4257T>A (p.Pro1419=)
c.2595T>A (p.Pro865=)
Xg.108686074T>CCA517924109COL4A5c.4260T>C (p.Pro1420=)
c.4242T>C (p.Pro1414=)
n.754T>C
n.663T>C
c.56T>C
c.4251T>C (p.Pro1417=)
c.3936T>C (p.Pro1312=)
c.1833T>C (p.Pro611=)
c.4275T>C (p.Pro1425=)
c.4266T>C (p.Pro1422=)
c.4257T>C (p.Pro1419=)
c.2595T>C (p.Pro865=)
dbSNP
Xg.108686074T>GCA517924110COL4A5c.4260T>G (p.Pro1420=)
c.4242T>G (p.Pro1414=)
n.754T>G
n.663T>G
c.56T>G
c.4251T>G (p.Pro1417=)
c.3936T>G (p.Pro1312=)
c.1833T>G (p.Pro611=)
c.4275T>G (p.Pro1425=)
c.4266T>G (p.Pro1422=)
c.4257T>G (p.Pro1419=)
c.2595T>G (p.Pro865=)
Xg.108686074T=CA2450718766COL4A5c.4260T= (p.Pro1420=)
c.4242T= (p.Pro1414=)
n.754T=
n.663T=
c.56T=
c.4251T= (p.Pro1417=)
c.3936T= (p.Pro1312=)
c.1833T= (p.Pro611=)
c.4275T= (p.Pro1425=)
c.4266T= (p.Pro1422=)
c.4257T= (p.Pro1419=)
c.2595T= (p.Pro865=)
Xg.108686075G>ACA413853587COL4A5c.4261G>A (p.Gly1421Ser)
c.4243G>A (p.Gly1415Ser)
n.755G>A
n.664G>A
c.57G>A
c.4252G>A (p.Gly1418Ser)
c.3937G>A (p.Gly1313Ser)
c.1834G>A (p.Gly612Ser)
c.4276G>A (p.Gly1426Ser)
c.4267G>A (p.Gly1423Ser)
c.4258G>A (p.Gly1420Ser)
c.2596G>A (p.Gly866Ser)
Xg.108686075G>CCA413853591COL4A5c.4261G>C (p.Gly1421Arg)
c.4243G>C (p.Gly1415Arg)
n.755G>C
n.664G>C
c.57G>C
c.4252G>C (p.Gly1418Arg)
c.3937G>C (p.Gly1313Arg)
c.1834G>C (p.Gly612Arg)
c.4276G>C (p.Gly1426Arg)
c.4267G>C (p.Gly1423Arg)
c.4258G>C (p.Gly1420Arg)
c.2596G>C (p.Gly866Arg)
Xg.108686075G>TCA413853594COL4A5c.4261G>T (p.Gly1421Cys)
c.4243G>T (p.Gly1415Cys)
n.755G>T
n.664G>T
c.57G>T
c.4252G>T (p.Gly1418Cys)
c.3937G>T (p.Gly1313Cys)
c.1834G>T (p.Gly612Cys)
c.4276G>T (p.Gly1426Cys)
c.4267G>T (p.Gly1423Cys)
c.4258G>T (p.Gly1420Cys)
c.2596G>T (p.Gly866Cys)
Xg.108686076G>ACA413853598COL4A5c.4262G>A (p.Gly1421Asp)
c.4244G>A (p.Gly1415Asp)
n.756G>A
n.665G>A
c.58G>A
c.4253G>A (p.Gly1418Asp)
c.3938G>A (p.Gly1313Asp)
c.1835G>A (p.Gly612Asp)
c.4277G>A (p.Gly1426Asp)
c.4268G>A (p.Gly1423Asp)
c.4259G>A (p.Gly1420Asp)
c.2597G>A (p.Gly866Asp)
Xg.108686076G>CCA413853600COL4A5c.4262G>C (p.Gly1421Ala)
c.4244G>C (p.Gly1415Ala)
n.756G>C
n.665G>C
c.58G>C
c.4253G>C (p.Gly1418Ala)
c.3938G>C (p.Gly1313Ala)
c.1835G>C (p.Gly612Ala)
c.4277G>C (p.Gly1426Ala)
c.4268G>C (p.Gly1423Ala)
c.4259G>C (p.Gly1420Ala)
c.2597G>C (p.Gly866Ala)
Xg.108686076G>TCA413853603COL4A5c.4262G>T (p.Gly1421Val)
c.4244G>T (p.Gly1415Val)
n.756G>T
n.665G>T
c.58G>T
c.4253G>T (p.Gly1418Val)
c.3938G>T (p.Gly1313Val)
c.1835G>T (p.Gly612Val)
c.4277G>T (p.Gly1426Val)
c.4268G>T (p.Gly1423Val)
c.4259G>T (p.Gly1420Val)
c.2597G>T (p.Gly866Val)
Xg.108686077C>ACA517924115COL4A5c.4263C>A (p.Gly1421=)
c.4245C>A (p.Gly1415=)
n.757C>A
n.666C>A
c.59C>A
c.4254C>A (p.Gly1418=)
c.3939C>A (p.Gly1313=)
c.1836C>A (p.Gly612=)
c.4278C>A (p.Gly1426=)
c.4269C>A (p.Gly1423=)
c.4260C>A (p.Gly1420=)
c.2598C>A (p.Gly866=)
Xg.108686077C=CA2450718767COL4A5c.4263C= (p.Gly1421=)
c.4245C= (p.Gly1415=)
n.757C=
n.666C=
c.59C=
c.4254C= (p.Gly1418=)
c.3939C= (p.Gly1313=)
c.1836C= (p.Gly612=)
c.4278C= (p.Gly1426=)
c.4269C= (p.Gly1423=)
c.4260C= (p.Gly1420=)
c.2598C= (p.Gly866=)
Xg.108686077C>GCA517924114COL4A5c.4263C>G (p.Gly1421=)
c.4245C>G (p.Gly1415=)
n.757C>G
n.666C>G
c.59C>G
c.4254C>G (p.Gly1418=)
c.3939C>G (p.Gly1313=)
c.1836C>G (p.Gly612=)
c.4278C>G (p.Gly1426=)
c.4269C>G (p.Gly1423=)
c.4260C>G (p.Gly1420=)
c.2598C>G (p.Gly866=)
Xg.108686077C>TCA10489327COL4A5c.4263C>T (p.Gly1421=)
c.4245C>T (p.Gly1415=)
n.757C>T
n.666C>T
c.59C>T
c.4254C>T (p.Gly1418=)
c.3939C>T (p.Gly1313=)
c.1836C>T (p.Gly612=)
c.4278C>T (p.Gly1426=)
c.4269C>T (p.Gly1423=)
c.4260C>T (p.Gly1420=)
c.2598C>T (p.Gly866=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686078T>ACA413853608COL4A5c.4264T>A (p.Phe1422Ile)
c.4246T>A (p.Phe1416Ile)
n.758T>A
n.667T>A
c.60T>A
c.4255T>A (p.Phe1419Ile)
c.3940T>A (p.Phe1314Ile)
c.1837T>A (p.Phe613Ile)
c.4279T>A (p.Phe1427Ile)
c.4270T>A (p.Phe1424Ile)
c.4261T>A (p.Phe1421Ile)
c.2599T>A (p.Phe867Ile)
Xg.108686078T>CCA413853611COL4A5c.4264T>C (p.Phe1422Leu)
c.4246T>C (p.Phe1416Leu)
n.758T>C
n.667T>C
c.60T>C
c.4255T>C (p.Phe1419Leu)
c.3940T>C (p.Phe1314Leu)
c.1837T>C (p.Phe613Leu)
c.4279T>C (p.Phe1427Leu)
c.4270T>C (p.Phe1424Leu)
c.4261T>C (p.Phe1421Leu)
c.2599T>C (p.Phe867Leu)
Xg.108686078T>GCA413853614COL4A5c.4264T>G (p.Phe1422Val)
c.4246T>G (p.Phe1416Val)
n.758T>G
n.667T>G
c.60T>G
c.4255T>G (p.Phe1419Val)
c.3940T>G (p.Phe1314Val)
c.1837T>G (p.Phe613Val)
c.4279T>G (p.Phe1427Val)
c.4270T>G (p.Phe1424Val)
c.4261T>G (p.Phe1421Val)
c.2599T>G (p.Phe867Val)
Xg.108686079T>ACA413853617COL4A5c.4265T>A (p.Phe1422Tyr)
c.4247T>A (p.Phe1416Tyr)
n.759T>A
n.668T>A
c.61T>A
c.4256T>A (p.Phe1419Tyr)
c.3941T>A (p.Phe1314Tyr)
c.1838T>A (p.Phe613Tyr)
c.4280T>A (p.Phe1427Tyr)
c.4271T>A (p.Phe1424Tyr)
c.4262T>A (p.Phe1421Tyr)
c.2600T>A (p.Phe867Tyr)
Xg.108686079T>CCA413853621COL4A5c.4265T>C (p.Phe1422Ser)
c.4247T>C (p.Phe1416Ser)
n.759T>C
n.668T>C
c.61T>C
c.4256T>C (p.Phe1419Ser)
c.3941T>C (p.Phe1314Ser)
c.1838T>C (p.Phe613Ser)
c.4280T>C (p.Phe1427Ser)
c.4271T>C (p.Phe1424Ser)
c.4262T>C (p.Phe1421Ser)
c.2600T>C (p.Phe867Ser)
Xg.108686079T>GCA413853623COL4A5c.4265T>G (p.Phe1422Cys)
c.4247T>G (p.Phe1416Cys)
n.759T>G
n.668T>G
c.61T>G
c.4256T>G (p.Phe1419Cys)
c.3941T>G (p.Phe1314Cys)
c.1838T>G (p.Phe613Cys)
c.4280T>G (p.Phe1427Cys)
c.4271T>G (p.Phe1424Cys)
c.4262T>G (p.Phe1421Cys)
c.2600T>G (p.Phe867Cys)
Xg.108686080T>ACA413853630COL4A5c.4266T>A (p.Phe1422Leu)
c.4248T>A (p.Phe1416Leu)
n.760T>A
n.669T>A
c.62T>A
c.4257T>A (p.Phe1419Leu)
c.3942T>A (p.Phe1314Leu)
c.1839T>A (p.Phe613Leu)
c.4281T>A (p.Phe1427Leu)
c.4272T>A (p.Phe1424Leu)
c.4263T>A (p.Phe1421Leu)
c.2601T>A (p.Phe867Leu)
gnomAD v4
Xg.108686080T>CCA10489328COL4A5c.4266T>C (p.Phe1422=)
c.4248T>C (p.Phe1416=)
n.760T>C
n.669T>C
c.62T>C
c.4257T>C (p.Phe1419=)
c.3942T>C (p.Phe1314=)
c.1839T>C (p.Phe613=)
c.4281T>C (p.Phe1427=)
c.4272T>C (p.Phe1424=)
c.4263T>C (p.Phe1421=)
c.2601T>C (p.Phe867=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686080T>GCA413853627COL4A5c.4266T>G (p.Phe1422Leu)
c.4248T>G (p.Phe1416Leu)
n.760T>G
n.669T>G
c.62T>G
c.4257T>G (p.Phe1419Leu)
c.3942T>G (p.Phe1314Leu)
c.1839T>G (p.Phe613Leu)
c.4281T>G (p.Phe1427Leu)
c.4272T>G (p.Phe1424Leu)
c.4263T>G (p.Phe1421Leu)
c.2601T>G (p.Phe867Leu)
Xg.108686080T=CA2450718768COL4A5c.4266T= (p.Phe1422=)
c.4248T= (p.Phe1416=)
n.760T=
n.669T=
c.62T=
c.4257T= (p.Phe1419=)
c.3942T= (p.Phe1314=)
c.1839T= (p.Phe613=)
c.4281T= (p.Phe1427=)
c.4272T= (p.Phe1424=)
c.4263T= (p.Phe1421=)
c.2601T= (p.Phe867=)
Xg.108686081G>ACA10489329COL4A5c.4267G>A (p.Asp1423Asn)
c.4249G>A (p.Asp1417Asn)
n.761G>A
n.670G>A
c.63G>A
c.4258G>A (p.Asp1420Asn)
c.3943G>A (p.Asp1315Asn)
c.1840G>A (p.Asp614Asn)
c.4282G>A (p.Asp1428Asn)
c.4273G>A (p.Asp1425Asn)
c.4264G>A (p.Asp1422Asn)
c.2602G>A (p.Asp868Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686081G>CCA413853635COL4A5c.4267G>C (p.Asp1423His)
c.4249G>C (p.Asp1417His)
n.761G>C
n.670G>C
c.63G>C
c.4258G>C (p.Asp1420His)
c.3943G>C (p.Asp1315His)
c.1840G>C (p.Asp614His)
c.4282G>C (p.Asp1428His)
c.4273G>C (p.Asp1425His)
c.4264G>C (p.Asp1422His)
c.2602G>C (p.Asp868His)
COSMIC COSMIC
Xg.108686081G=CA2450718769COL4A5c.4267G= (p.Asp1423=)
c.4249G= (p.Asp1417=)
n.761G=
n.670G=
c.63G=
c.4258G= (p.Asp1420=)
c.3943G= (p.Asp1315=)
c.1840G= (p.Asp614=)
c.4282G= (p.Asp1428=)
c.4273G= (p.Asp1425=)
c.4264G= (p.Asp1422=)
c.2602G= (p.Asp868=)
Xg.108686081G>TCA413853638COL4A5c.4267G>T (p.Asp1423Tyr)
c.4249G>T (p.Asp1417Tyr)
n.761G>T
n.670G>T
c.63G>T
c.4258G>T (p.Asp1420Tyr)
c.3943G>T (p.Asp1315Tyr)
c.1840G>T (p.Asp614Tyr)
c.4282G>T (p.Asp1428Tyr)
c.4273G>T (p.Asp1425Tyr)
c.4264G>T (p.Asp1422Tyr)
c.2602G>T (p.Asp868Tyr)
gnomAD v4
Xg.108686082A=CA2450718770COL4A5c.4268A= (p.Asp1423=)
c.4250A= (p.Asp1417=)
n.762A=
n.671A=
c.64A=
c.4259A= (p.Asp1420=)
c.3944A= (p.Asp1315=)
c.1841A= (p.Asp614=)
c.4283A= (p.Asp1428=)
c.4274A= (p.Asp1425=)
c.4265A= (p.Asp1422=)
c.2603A= (p.Asp868=)
Xg.108686082A>CCA413853641COL4A5c.4268A>C (p.Asp1423Ala)
c.4250A>C (p.Asp1417Ala)
n.762A>C
n.671A>C
c.64A>C
c.4259A>C (p.Asp1420Ala)
c.3944A>C (p.Asp1315Ala)
c.1841A>C (p.Asp614Ala)
c.4283A>C (p.Asp1428Ala)
c.4274A>C (p.Asp1425Ala)
c.4265A>C (p.Asp1422Ala)
c.2603A>C (p.Asp868Ala)
Xg.108686082A>GCA413853644COL4A5c.4268A>G (p.Asp1423Gly)
c.4250A>G (p.Asp1417Gly)
n.762A>G
n.671A>G
c.64A>G
c.4259A>G (p.Asp1420Gly)
c.3944A>G (p.Asp1315Gly)
c.1841A>G (p.Asp614Gly)
c.4283A>G (p.Asp1428Gly)
c.4274A>G (p.Asp1425Gly)
c.4265A>G (p.Asp1422Gly)
c.2603A>G (p.Asp868Gly)
dbSNP gnomAD v2 gnomAD v4
Xg.108686082A>TCA413853646COL4A5c.4268A>T (p.Asp1423Val)
c.4250A>T (p.Asp1417Val)
n.762A>T
n.671A>T
c.64A>T
c.4259A>T (p.Asp1420Val)
c.3944A>T (p.Asp1315Val)
c.1841A>T (p.Asp614Val)
c.4283A>T (p.Asp1428Val)
c.4274A>T (p.Asp1425Val)
c.4265A>T (p.Asp1422Val)
c.2603A>T (p.Asp868Val)
Xg.108686083T>ACA413853649COL4A5c.4269T>A (p.Asp1423Glu)
c.4251T>A (p.Asp1417Glu)
n.763T>A
n.672T>A
c.65T>A
c.4260T>A (p.Asp1420Glu)
c.3945T>A (p.Asp1315Glu)
c.1842T>A (p.Asp614Glu)
c.4284T>A (p.Asp1428Glu)
c.4275T>A (p.Asp1425Glu)
c.4266T>A (p.Asp1422Glu)
c.2604T>A (p.Asp868Glu)
Xg.108686083T>CCA517924126COL4A5c.4269T>C (p.Asp1423=)
c.4251T>C (p.Asp1417=)
n.763T>C
n.672T>C
c.65T>C
c.4260T>C (p.Asp1420=)
c.3945T>C (p.Asp1315=)
c.1842T>C (p.Asp614=)
c.4284T>C (p.Asp1428=)
c.4275T>C (p.Asp1425=)
c.4266T>C (p.Asp1422=)
c.2604T>C (p.Asp868=)
Xg.108686083T>GCA413853650COL4A5c.4269T>G (p.Asp1423Glu)
c.4251T>G (p.Asp1417Glu)
n.763T>G
n.672T>G
c.65T>G
c.4260T>G (p.Asp1420Glu)
c.3945T>G (p.Asp1315Glu)
c.1842T>G (p.Asp614Glu)
c.4284T>G (p.Asp1428Glu)
c.4275T>G (p.Asp1425Glu)
c.4266T>G (p.Asp1422Glu)
c.2604T>G (p.Asp868Glu)
Xg.108686084G>ACA10489330COL4A5c.4270G>A (p.Gly1424Ser)
c.4252G>A (p.Gly1418Ser)
n.764G>A
n.673G>A
c.66G>A
c.4261G>A (p.Gly1421Ser)
c.3946G>A (p.Gly1316Ser)
c.1843G>A (p.Gly615Ser)
c.4285G>A (p.Gly1429Ser)
c.4276G>A (p.Gly1426Ser)
c.4267G>A (p.Gly1423Ser)
c.2605G>A (p.Gly869Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686084G>CCA413853652COL4A5c.4270G>C (p.Gly1424Arg)
c.4252G>C (p.Gly1418Arg)
n.764G>C
n.673G>C
c.66G>C
c.4261G>C (p.Gly1421Arg)
c.3946G>C (p.Gly1316Arg)
c.1843G>C (p.Gly615Arg)
c.4285G>C (p.Gly1429Arg)
c.4276G>C (p.Gly1426Arg)
c.4267G>C (p.Gly1423Arg)
c.2605G>C (p.Gly869Arg)
Xg.108686084G=CA2450718771COL4A5c.4270G= (p.Gly1424=)
c.4252G= (p.Gly1418=)
n.764G=
n.673G=
c.66G=
c.4261G= (p.Gly1421=)
c.3946G= (p.Gly1316=)
c.1843G= (p.Gly615=)
c.4285G= (p.Gly1429=)
c.4276G= (p.Gly1426=)
c.4267G= (p.Gly1423=)
c.2605G= (p.Gly869=)
Xg.108686084G>TCA413853654COL4A5c.4270G>T (p.Gly1424Cys)
c.4252G>T (p.Gly1418Cys)
n.764G>T
n.673G>T
c.66G>T
c.4261G>T (p.Gly1421Cys)
c.3946G>T (p.Gly1316Cys)
c.1843G>T (p.Gly615Cys)
c.4285G>T (p.Gly1429Cys)
c.4276G>T (p.Gly1426Cys)
c.4267G>T (p.Gly1423Cys)
c.2605G>T (p.Gly869Cys)
gnomAD v4
Xg.108686085G>ACA413853656COL4A5c.4271G>A (p.Gly1424Asp)
c.4253G>A (p.Gly1418Asp)
n.765G>A
n.674G>A
c.67G>A
c.4262G>A (p.Gly1421Asp)
c.3947G>A (p.Gly1316Asp)
c.1844G>A (p.Gly615Asp)
c.4286G>A (p.Gly1429Asp)
c.4277G>A (p.Gly1426Asp)
c.4268G>A (p.Gly1423Asp)
c.2606G>A (p.Gly869Asp)
Xg.108686085G>CCA413853662COL4A5c.4271G>C (p.Gly1424Ala)
c.4253G>C (p.Gly1418Ala)
n.765G>C
n.674G>C
c.67G>C
c.4262G>C (p.Gly1421Ala)
c.3947G>C (p.Gly1316Ala)
c.1844G>C (p.Gly615Ala)
c.4286G>C (p.Gly1429Ala)
c.4277G>C (p.Gly1426Ala)
c.4268G>C (p.Gly1423Ala)
c.2606G>C (p.Gly869Ala)
Xg.108686085G>TCA413853659COL4A5c.4271G>T (p.Gly1424Val)
c.4253G>T (p.Gly1418Val)
n.765G>T
n.674G>T
c.67G>T
c.4262G>T (p.Gly1421Val)
c.3947G>T (p.Gly1316Val)
c.1844G>T (p.Gly615Val)
c.4286G>T (p.Gly1429Val)
c.4277G>T (p.Gly1426Val)
c.4268G>T (p.Gly1423Val)
c.2606G>T (p.Gly869Val)
Xg.108686086T>ACA517924132COL4A5c.4272T>A (p.Gly1424=)
c.4254T>A (p.Gly1418=)
n.766T>A
n.675T>A
c.68T>A
c.4263T>A (p.Gly1421=)
c.3948T>A (p.Gly1316=)
c.1845T>A (p.Gly615=)
c.4287T>A (p.Gly1429=)
c.4278T>A (p.Gly1426=)
c.4269T>A (p.Gly1423=)
c.2607T>A (p.Gly869=)
Xg.108686086T>CCA517924133COL4A5c.4272T>C (p.Gly1424=)
c.4254T>C (p.Gly1418=)
n.766T>C
n.675T>C
c.68T>C
c.4263T>C (p.Gly1421=)
c.3948T>C (p.Gly1316=)
c.1845T>C (p.Gly615=)
c.4287T>C (p.Gly1429=)
c.4278T>C (p.Gly1426=)
c.4269T>C (p.Gly1423=)
c.2607T>C (p.Gly869=)
Xg.108686086T>GCA517924134COL4A5c.4272T>G (p.Gly1424=)
c.4254T>G (p.Gly1418=)
n.766T>G
n.675T>G
c.68T>G
c.4263T>G (p.Gly1421=)
c.3948T>G (p.Gly1316=)
c.1845T>G (p.Gly615=)
c.4287T>G (p.Gly1429=)
c.4278T>G (p.Gly1426=)
c.4269T>G (p.Gly1423=)
c.2607T>G (p.Gly869=)
Xg.108686086_108686091delinsCGCAAAGGAGACCCCA2695235231COL4A5c.4272_4277delinsCGCAAAGGAGACCC (p.Gly1426LysfsTer?)
c.4254_4259delinsCGCAAAGGAGACCC (p.Gly1420LysfsTer?)
n.766_771delinsCGCAAAGGAGACCC
n.675_680delinsCGCAAAGGAGACCC
c.68_73delinsCGCAAAGGAGACCC
c.4263_4268delinsCGCAAAGGAGACCC (p.Gly1423LysfsTer?)
c.3948_3953delinsCGCAAAGGAGACCC (p.Gly1318LysfsTer?)
c.1845_1850delinsCGCAAAGGAGACCC (p.Gly617LysfsTer?)
c.4287_4292delinsCGCAAAGGAGACCC (p.Gly1431LysfsTer?)
c.4278_4283delinsCGCAAAGGAGACCC (p.Gly1428LysfsTer?)
c.4269_4274delinsCGCAAAGGAGACCC (p.Gly1425LysfsTer?)
c.2607_2612delinsCGCAAAGGAGACCC (p.Gly871LysfsTer?)
Xg.108686087G>ACA413853665COL4A5c.4273G>A (p.Ala1425Thr)
c.4255G>A (p.Ala1419Thr)
n.767G>A
n.676G>A
c.69G>A
c.4264G>A (p.Ala1422Thr)
c.3949G>A (p.Ala1317Thr)
c.1846G>A (p.Ala616Thr)
c.4288G>A (p.Ala1430Thr)
c.4279G>A (p.Ala1427Thr)
c.4270G>A (p.Ala1424Thr)
c.2608G>A (p.Ala870Thr)
dbSNP gnomAD v4
Xg.108686087G>CCA413853670COL4A5c.4273G>C (p.Ala1425Pro)
c.4255G>C (p.Ala1419Pro)
n.767G>C
n.676G>C
c.69G>C
c.4264G>C (p.Ala1422Pro)
c.3949G>C (p.Ala1317Pro)
c.1846G>C (p.Ala616Pro)
c.4288G>C (p.Ala1430Pro)
c.4279G>C (p.Ala1427Pro)
c.4270G>C (p.Ala1424Pro)
c.2608G>C (p.Ala870Pro)
Xg.108686087G=CA2450718772COL4A5c.4273G= (p.Ala1425=)
c.4255G= (p.Ala1419=)
n.767G=
n.676G=
c.69G=
c.4264G= (p.Ala1422=)
c.3949G= (p.Ala1317=)
c.1846G= (p.Ala616=)
c.4288G= (p.Ala1430=)
c.4279G= (p.Ala1427=)
c.4270G= (p.Ala1424=)
c.2608G= (p.Ala870=)
Xg.108686087G>TCA413853667COL4A5c.4273G>T (p.Ala1425Ser)
c.4255G>T (p.Ala1419Ser)
n.767G>T
n.676G>T
c.69G>T
c.4264G>T (p.Ala1422Ser)
c.3949G>T (p.Ala1317Ser)
c.1846G>T (p.Ala616Ser)
c.4288G>T (p.Ala1430Ser)
c.4279G>T (p.Ala1427Ser)
c.4270G>T (p.Ala1424Ser)
c.2608G>T (p.Ala870Ser)
gnomAD v4
Xg.108686088C>ACA413853672COL4A5c.4274C>A (p.Ala1425Glu)
c.4256C>A (p.Ala1419Glu)
n.768C>A
n.677C>A
c.70C>A
c.4265C>A (p.Ala1422Glu)
c.3950C>A (p.Ala1317Glu)
c.1847C>A (p.Ala616Glu)
c.4289C>A (p.Ala1430Glu)
c.4280C>A (p.Ala1427Glu)
c.4271C>A (p.Ala1424Glu)
c.2609C>A (p.Ala870Glu)
Xg.108686088C>GCA413853674COL4A5c.4274C>G (p.Ala1425Gly)
c.4256C>G (p.Ala1419Gly)
n.768C>G
n.677C>G
c.70C>G
c.4265C>G (p.Ala1422Gly)
c.3950C>G (p.Ala1317Gly)
c.1847C>G (p.Ala616Gly)
c.4289C>G (p.Ala1430Gly)
c.4280C>G (p.Ala1427Gly)
c.4271C>G (p.Ala1424Gly)
c.2609C>G (p.Ala870Gly)
Xg.108686088C>TCA413853676COL4A5c.4274C>T (p.Ala1425Val)
c.4256C>T (p.Ala1419Val)
n.768C>T
n.677C>T
c.70C>T
c.4265C>T (p.Ala1422Val)
c.3950C>T (p.Ala1317Val)
c.1847C>T (p.Ala616Val)
c.4289C>T (p.Ala1430Val)
c.4280C>T (p.Ala1427Val)
c.4271C>T (p.Ala1424Val)
c.2609C>T (p.Ala870Val)
Xg.108686089A>CCA517924137COL4A5c.4275A>C (p.Ala1425=)
c.4257A>C (p.Ala1419=)
n.769A>C
n.678A>C
c.71A>C
c.4266A>C (p.Ala1422=)
c.3951A>C (p.Ala1317=)
c.1848A>C (p.Ala616=)
c.4290A>C (p.Ala1430=)
c.4281A>C (p.Ala1427=)
c.4272A>C (p.Ala1424=)
c.2610A>C (p.Ala870=)
Xg.108686089A>GCA517924138COL4A5c.4275A>G (p.Ala1425=)
c.4257A>G (p.Ala1419=)
n.769A>G
n.678A>G
c.71A>G
c.4266A>G (p.Ala1422=)
c.3951A>G (p.Ala1317=)
c.1848A>G (p.Ala616=)
c.4290A>G (p.Ala1430=)
c.4281A>G (p.Ala1427=)
c.4272A>G (p.Ala1424=)
c.2610A>G (p.Ala870=)
gnomAD v4
Xg.108686089A>TCA517924139COL4A5c.4275A>T (p.Ala1425=)
c.4257A>T (p.Ala1419=)
n.769A>T
n.678A>T
c.71A>T
c.4266A>T (p.Ala1422=)
c.3951A>T (p.Ala1317=)
c.1848A>T (p.Ala616=)
c.4290A>T (p.Ala1430=)
c.4281A>T (p.Ala1427=)
c.4272A>T (p.Ala1424=)
c.2610A>T (p.Ala870=)
Xg.108686090G>ACA413853679COL4A5c.4276G>A (p.Gly1426Arg)
c.4258G>A (p.Gly1420Arg)
n.770G>A
n.679G>A
c.72G>A
c.4267G>A (p.Gly1423Arg)
c.3952G>A (p.Gly1318Arg)
c.1849G>A (p.Gly617Arg)
c.4291G>A (p.Gly1431Arg)
c.4282G>A (p.Gly1428Arg)
c.4273G>A (p.Gly1425Arg)
c.2611G>A (p.Gly871Arg)
Xg.108686090G>CCA413853681COL4A5c.4276G>C (p.Gly1426Arg)
c.4258G>C (p.Gly1420Arg)
n.770G>C
n.679G>C
c.72G>C
c.4267G>C (p.Gly1423Arg)
c.3952G>C (p.Gly1318Arg)
c.1849G>C (p.Gly617Arg)
c.4291G>C (p.Gly1431Arg)
c.4282G>C (p.Gly1428Arg)
c.4273G>C (p.Gly1425Arg)
c.2611G>C (p.Gly871Arg)
Xg.108686090G>TCA413853685COL4A5c.4276G>T (p.Gly1426Ter)
c.4258G>T (p.Gly1420Ter)
n.770G>T
n.679G>T
c.72G>T
c.4267G>T (p.Gly1423Ter)
c.3952G>T (p.Gly1318Ter)
c.1849G>T (p.Gly617Ter)
c.4291G>T (p.Gly1431Ter)
c.4282G>T (p.Gly1428Ter)
c.4273G>T (p.Gly1425Ter)
c.2611G>T (p.Gly871Ter)
Xg.108686091G>ACA413853688COL4A5c.4277G>A (p.Gly1426Glu)
c.4259G>A (p.Gly1420Glu)
n.771G>A
n.680G>A
c.73G>A
c.4268G>A (p.Gly1423Glu)
c.3953G>A (p.Gly1318Glu)
c.1850G>A (p.Gly617Glu)
c.4292G>A (p.Gly1431Glu)
c.4283G>A (p.Gly1428Glu)
c.4274G>A (p.Gly1425Glu)
c.2612G>A (p.Gly871Glu)
Xg.108686091G>CCA413853689COL4A5c.4277G>C (p.Gly1426Ala)
c.4259G>C (p.Gly1420Ala)
n.771G>C
n.680G>C
c.73G>C
c.4268G>C (p.Gly1423Ala)
c.3953G>C (p.Gly1318Ala)
c.1850G>C (p.Gly617Ala)
c.4292G>C (p.Gly1431Ala)
c.4283G>C (p.Gly1428Ala)
c.4274G>C (p.Gly1425Ala)
c.2612G>C (p.Gly871Ala)
Xg.108686091G>TCA413853692COL4A5c.4277G>T (p.Gly1426Val)
c.4259G>T (p.Gly1420Val)
n.771G>T
n.680G>T
c.73G>T
c.4268G>T (p.Gly1423Val)
c.3953G>T (p.Gly1318Val)
c.1850G>T (p.Gly617Val)
c.4292G>T (p.Gly1431Val)
c.4283G>T (p.Gly1428Val)
c.4274G>T (p.Gly1425Val)
c.2612G>T (p.Gly871Val)
Xg.108686092A>CCA517924147COL4A5c.4278A>C (p.Gly1426=)
c.4260A>C (p.Gly1420=)
n.772A>C
n.681A>C
c.74A>C
c.4269A>C (p.Gly1423=)
c.3954A>C (p.Gly1318=)
c.1851A>C (p.Gly617=)
c.4293A>C (p.Gly1431=)
c.4284A>C (p.Gly1428=)
c.4275A>C (p.Gly1425=)
c.2613A>C (p.Gly871=)
Xg.108686092A>GCA517924148COL4A5c.4278A>G (p.Gly1426=)
c.4260A>G (p.Gly1420=)
n.772A>G
n.681A>G
c.74A>G
c.4269A>G (p.Gly1423=)
c.3954A>G (p.Gly1318=)
c.1851A>G (p.Gly617=)
c.4293A>G (p.Gly1431=)
c.4284A>G (p.Gly1428=)
c.4275A>G (p.Gly1425=)
c.2613A>G (p.Gly871=)
Xg.108686092A>TCA517924149COL4A5c.4278A>T (p.Gly1426=)
c.4260A>T (p.Gly1420=)
n.772A>T
n.681A>T
c.74A>T
c.4269A>T (p.Gly1423=)
c.3954A>T (p.Gly1318=)
c.1851A>T (p.Gly617=)
c.4293A>T (p.Gly1431=)
c.4284A>T (p.Gly1428=)
c.4275A>T (p.Gly1425=)
c.2613A>T (p.Gly871=)
Xg.108686093G>ACA413853696COL4A5c.4279G>A (p.Gly1427Arg)
c.4261G>A (p.Gly1421Arg)
n.773G>A
n.682G>A
c.75G>A
c.4270G>A (p.Gly1424Arg)
c.3955G>A (p.Gly1319Arg)
c.1852G>A (p.Gly618Arg)
c.4294G>A (p.Gly1432Arg)
c.4285G>A (p.Gly1429Arg)
c.4276G>A (p.Gly1426Arg)
c.2614G>A (p.Gly872Arg)
Xg.108686093G>CCA413853697COL4A5c.4279G>C (p.Gly1427Arg)
c.4261G>C (p.Gly1421Arg)
n.773G>C
n.682G>C
c.75G>C
c.4270G>C (p.Gly1424Arg)
c.3955G>C (p.Gly1319Arg)
c.1852G>C (p.Gly618Arg)
c.4294G>C (p.Gly1432Arg)
c.4285G>C (p.Gly1429Arg)
c.4276G>C (p.Gly1426Arg)
c.2614G>C (p.Gly872Arg)
dbSNP
Xg.108686093G=CA2450718773COL4A5c.4279G= (p.Gly1427=)
c.4261G= (p.Gly1421=)
n.773G=
n.682G=
c.75G=
c.4270G= (p.Gly1424=)
c.3955G= (p.Gly1319=)
c.1852G= (p.Gly618=)
c.4294G= (p.Gly1432=)
c.4285G= (p.Gly1429=)
c.4276G= (p.Gly1426=)
c.2614G= (p.Gly872=)
Xg.108686093G>TCA259010COL4A5c.4279G>T (p.Gly1427Trp)
c.4261G>T (p.Gly1421Trp)
n.773G>T
n.682G>T
c.75G>T
c.4270G>T (p.Gly1424Trp)
c.3955G>T (p.Gly1319Trp)
c.1852G>T (p.Gly618Trp)
c.4294G>T (p.Gly1432Trp)
c.4285G>T (p.Gly1429Trp)
c.4276G>T (p.Gly1426Trp)
c.2614G>T (p.Gly872Trp)
dbSNP
Xg.108686094G>ACA413853703COL4A5c.4280G>A (p.Gly1427Glu)
c.4262G>A (p.Gly1421Glu)
n.774G>A
n.683G>A
c.76G>A
c.4271G>A (p.Gly1424Glu)
c.3956G>A (p.Gly1319Glu)
c.1853G>A (p.Gly618Glu)
c.4295G>A (p.Gly1432Glu)
c.4286G>A (p.Gly1429Glu)
c.4277G>A (p.Gly1426Glu)
c.2615G>A (p.Gly872Glu)
Xg.108686094G>CCA413853709COL4A5c.4280G>C (p.Gly1427Ala)
c.4262G>C (p.Gly1421Ala)
n.774G>C
n.683G>C
c.76G>C
c.4271G>C (p.Gly1424Ala)
c.3956G>C (p.Gly1319Ala)
c.1853G>C (p.Gly618Ala)
c.4295G>C (p.Gly1432Ala)
c.4286G>C (p.Gly1429Ala)
c.4277G>C (p.Gly1426Ala)
c.2615G>C (p.Gly872Ala)
Xg.108686094G>TCA413853706COL4A5c.4280G>T (p.Gly1427Val)
c.4262G>T (p.Gly1421Val)
n.774G>T
n.683G>T
c.76G>T
c.4271G>T (p.Gly1424Val)
c.3956G>T (p.Gly1319Val)
c.1853G>T (p.Gly618Val)
c.4295G>T (p.Gly1432Val)
c.4286G>T (p.Gly1429Val)
c.4277G>T (p.Gly1426Val)
c.2615G>T (p.Gly872Val)
COSMIC
Xg.108686095G>ACA334058364COL4A5c.4281G>A (p.Gly1427=)
c.4263G>A (p.Gly1421=)
n.775G>A
n.684G>A
c.77G>A
c.4272G>A (p.Gly1424=)
c.3957G>A (p.Gly1319=)
c.1854G>A (p.Gly618=)
c.4296G>A (p.Gly1432=)
c.4287G>A (p.Gly1429=)
c.4278G>A (p.Gly1426=)
c.2616G>A (p.Gly872=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686095G>CCA517924154COL4A5c.4281G>C (p.Gly1427=)
c.4263G>C (p.Gly1421=)
n.775G>C
n.684G>C
c.77G>C
c.4272G>C (p.Gly1424=)
c.3957G>C (p.Gly1319=)
c.1854G>C (p.Gly618=)
c.4296G>C (p.Gly1432=)
c.4287G>C (p.Gly1429=)
c.4278G>C (p.Gly1426=)
c.2616G>C (p.Gly872=)
Xg.108686095G=CA2450718774COL4A5c.4281G= (p.Gly1427=)
c.4263G= (p.Gly1421=)
n.775G=
n.684G=
c.77G=
c.4272G= (p.Gly1424=)
c.3957G= (p.Gly1319=)
c.1854G= (p.Gly618=)
c.4296G= (p.Gly1432=)
c.4287G= (p.Gly1429=)
c.4278G= (p.Gly1426=)
c.2616G= (p.Gly872=)
Xg.108686095G>TCA517924156COL4A5c.4281G>T (p.Gly1427=)
c.4263G>T (p.Gly1421=)
n.775G>T
n.684G>T
c.77G>T
c.4272G>T (p.Gly1424=)
c.3957G>T (p.Gly1319=)
c.1854G>T (p.Gly618=)
c.4296G>T (p.Gly1432=)
c.4287G>T (p.Gly1429=)
c.4278G>T (p.Gly1426=)
c.2616G>T (p.Gly872=)
Xg.108686096C>ACA413853712COL4A5c.4282C>A (p.Arg1428Ser)
c.4264C>A (p.Arg1422Ser)
n.776C>A
n.685C>A
c.78C>A
c.4273C>A (p.Arg1425Ser)
c.3958C>A (p.Arg1320Ser)
c.1855C>A (p.Arg619Ser)
c.4297C>A (p.Arg1433Ser)
c.4288C>A (p.Arg1430Ser)
c.4279C>A (p.Arg1427Ser)
c.2617C>A (p.Arg873Ser)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686096C=CA2450718775COL4A5c.4282C= (p.Arg1428=)
c.4264C= (p.Arg1422=)
n.776C=
n.685C=
c.78C=
c.4273C= (p.Arg1425=)
c.3958C= (p.Arg1320=)
c.1855C= (p.Arg619=)
c.4297C= (p.Arg1433=)
c.4288C= (p.Arg1430=)
c.4279C= (p.Arg1427=)
c.2617C= (p.Arg873=)
Xg.108686096C>GCA413853715COL4A5c.4282C>G (p.Arg1428Gly)
c.4264C>G (p.Arg1422Gly)
n.776C>G
n.685C>G
c.78C>G
c.4273C>G (p.Arg1425Gly)
c.3958C>G (p.Arg1320Gly)
c.1855C>G (p.Arg619Gly)
c.4297C>G (p.Arg1433Gly)
c.4288C>G (p.Arg1430Gly)
c.4279C>G (p.Arg1427Gly)
c.2617C>G (p.Arg873Gly)
Xg.108686096C>TCA033364COL4A5c.4282C>T (p.Arg1428Cys)
c.4264C>T (p.Arg1422Cys)
n.776C>T
n.685C>T
c.78C>T
c.4273C>T (p.Arg1425Cys)
c.3958C>T (p.Arg1320Cys)
c.1855C>T (p.Arg619Cys)
c.4297C>T (p.Arg1433Cys)
c.4288C>T (p.Arg1430Cys)
c.4279C>T (p.Arg1427Cys)
c.2617C>T (p.Arg873Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686097G>ACA413853719COL4A5c.4283G>A (p.Arg1428His)
c.4265G>A (p.Arg1422His)
n.777G>A
n.686G>A
c.79G>A
c.4274G>A (p.Arg1425His)
c.3959G>A (p.Arg1320His)
c.1856G>A (p.Arg619His)
c.4298G>A (p.Arg1433His)
c.4289G>A (p.Arg1430His)
c.4280G>A (p.Arg1427His)
c.2618G>A (p.Arg873His)
ClinVar dbSNP gnomAD v4 COSMIC COSMIC
Xg.108686097G>CCA413853721COL4A5c.4283G>C (p.Arg1428Pro)
c.4265G>C (p.Arg1422Pro)
n.777G>C
n.686G>C
c.79G>C
c.4274G>C (p.Arg1425Pro)
c.3959G>C (p.Arg1320Pro)
c.1856G>C (p.Arg619Pro)
c.4298G>C (p.Arg1433Pro)
c.4289G>C (p.Arg1430Pro)
c.4280G>C (p.Arg1427Pro)
c.2618G>C (p.Arg873Pro)
Xg.108686097G=CA2450718776COL4A5c.4283G= (p.Arg1428=)
c.4265G= (p.Arg1422=)
n.777G=
n.686G=
c.79G=
c.4274G= (p.Arg1425=)
c.3959G= (p.Arg1320=)
c.1856G= (p.Arg619=)
c.4298G= (p.Arg1433=)
c.4289G= (p.Arg1430=)
c.4280G= (p.Arg1427=)
c.2618G= (p.Arg873=)
Xg.108686097G>TCA413853722COL4A5c.4283G>T (p.Arg1428Leu)
c.4265G>T (p.Arg1422Leu)
n.777G>T
n.686G>T
c.79G>T
c.4274G>T (p.Arg1425Leu)
c.3959G>T (p.Arg1320Leu)
c.1856G>T (p.Arg619Leu)
c.4298G>T (p.Arg1433Leu)
c.4289G>T (p.Arg1430Leu)
c.4280G>T (p.Arg1427Leu)
c.2618G>T (p.Arg873Leu)
gnomAD v4
Xg.108686098C>ACA517924166COL4A5c.4284C>A (p.Arg1428=)
c.4266C>A (p.Arg1422=)
n.778C>A
n.687C>A
c.80C>A
c.4275C>A (p.Arg1425=)
c.3960C>A (p.Arg1320=)
c.1857C>A (p.Arg619=)
c.4299C>A (p.Arg1433=)
c.4290C>A (p.Arg1430=)
c.4281C>A (p.Arg1427=)
c.2619C>A (p.Arg873=)
Xg.108686098C>GCA517924164COL4A5c.4284C>G (p.Arg1428=)
c.4266C>G (p.Arg1422=)
n.778C>G
n.687C>G
c.80C>G
c.4275C>G (p.Arg1425=)
c.3960C>G (p.Arg1320=)
c.1857C>G (p.Arg619=)
c.4299C>G (p.Arg1433=)
c.4290C>G (p.Arg1430=)
c.4281C>G (p.Arg1427=)
c.2619C>G (p.Arg873=)
Xg.108686098C>TCA517924162COL4A5c.4284C>T (p.Arg1428=)
c.4266C>T (p.Arg1422=)
n.778C>T
n.687C>T
c.80C>T
c.4275C>T (p.Arg1425=)
c.3960C>T (p.Arg1320=)
c.1857C>T (p.Arg619=)
c.4299C>T (p.Arg1433=)
c.4290C>T (p.Arg1430=)
c.4281C>T (p.Arg1427=)
c.2619C>T (p.Arg873=)
ClinVar
Xg.108686099A>CCA413853725COL4A5c.4285A>C (p.Lys1429Gln)
c.4267A>C (p.Lys1423Gln)
n.779A>C
n.688A>C
c.81A>C
c.4276A>C (p.Lys1426Gln)
c.3961A>C (p.Lys1321Gln)
c.1858A>C (p.Lys620Gln)
c.4300A>C (p.Lys1434Gln)
c.4291A>C (p.Lys1431Gln)
c.4282A>C (p.Lys1428Gln)
c.2620A>C (p.Lys874Gln)
Xg.108686099A>GCA413853727COL4A5c.4285A>G (p.Lys1429Glu)
c.4267A>G (p.Lys1423Glu)
n.779A>G
n.688A>G
c.81A>G
c.4276A>G (p.Lys1426Glu)
c.3961A>G (p.Lys1321Glu)
c.1858A>G (p.Lys620Glu)
c.4300A>G (p.Lys1434Glu)
c.4291A>G (p.Lys1431Glu)
c.4282A>G (p.Lys1428Glu)
c.2620A>G (p.Lys874Glu)
Xg.108686099A>TCA413853728COL4A5c.4285A>T (p.Lys1429Ter)
c.4267A>T (p.Lys1423Ter)
n.779A>T
n.688A>T
c.81A>T
c.4276A>T (p.Lys1426Ter)
c.3961A>T (p.Lys1321Ter)
c.1858A>T (p.Lys620Ter)
c.4300A>T (p.Lys1434Ter)
c.4291A>T (p.Lys1431Ter)
c.4282A>T (p.Lys1428Ter)
c.2620A>T (p.Lys874Ter)
Xg.108686100_108686101dupCA2739290544COL4A5c.4286_4287dup (p.Gly1430LysfsTer?)
c.4268_4269dup (p.Gly1424LysfsTer?)
n.780_781dup
n.689_690dup
c.82_83dup
c.4277_4278dup (p.Gly1427LysfsTer?)
c.3962_3963dup (p.Gly1322LysfsTer?)
c.1859_1860dup (p.Gly621LysfsTer?)
c.4301_4302dup (p.Gly1435LysfsTer?)
c.4292_4293dup (p.Gly1432LysfsTer?)
c.4283_4284dup (p.Gly1429LysfsTer?)
c.2621_2622dup (p.Gly875LysfsTer?)
Xg.108686100A>CCA413853732COL4A5c.4286A>C (p.Lys1429Thr)
c.4268A>C (p.Lys1423Thr)
n.780A>C
n.689A>C
c.82A>C
c.4277A>C (p.Lys1426Thr)
c.3962A>C (p.Lys1321Thr)
c.1859A>C (p.Lys620Thr)
c.4301A>C (p.Lys1434Thr)
c.4292A>C (p.Lys1431Thr)
c.4283A>C (p.Lys1428Thr)
c.2621A>C (p.Lys874Thr)
Xg.108686100A>GCA413853733COL4A5c.4286A>G (p.Lys1429Arg)
c.4268A>G (p.Lys1423Arg)
n.780A>G
n.689A>G
c.82A>G
c.4277A>G (p.Lys1426Arg)
c.3962A>G (p.Lys1321Arg)
c.1859A>G (p.Lys620Arg)
c.4301A>G (p.Lys1434Arg)
c.4292A>G (p.Lys1431Arg)
c.4283A>G (p.Lys1428Arg)
c.2621A>G (p.Lys874Arg)
gnomAD v4
Xg.108686100A>TCA413853730COL4A5c.4286A>T (p.Lys1429Ile)
c.4268A>T (p.Lys1423Ile)
n.780A>T
n.689A>T
c.82A>T
c.4277A>T (p.Lys1426Ile)
c.3962A>T (p.Lys1321Ile)
c.1859A>T (p.Lys620Ile)
c.4301A>T (p.Lys1434Ile)
c.4292A>T (p.Lys1431Ile)
c.4283A>T (p.Lys1428Ile)
c.2621A>T (p.Lys874Ile)
Xg.108686101A=CA2450718777COL4A5c.4287A= (p.Lys1429=)
c.4269A= (p.Lys1423=)
n.781A=
n.690A=
c.83A=
c.4278A= (p.Lys1426=)
c.3963A= (p.Lys1321=)
c.1860A= (p.Lys620=)
c.4302A= (p.Lys1434=)
c.4293A= (p.Lys1431=)
c.4284A= (p.Lys1428=)
c.2622A= (p.Lys874=)
Xg.108686101A>CCA413853735COL4A5c.4287A>C (p.Lys1429Asn)
c.4269A>C (p.Lys1423Asn)
n.781A>C
n.690A>C
c.83A>C
c.4278A>C (p.Lys1426Asn)
c.3963A>C (p.Lys1321Asn)
c.1860A>C (p.Lys620Asn)
c.4302A>C (p.Lys1434Asn)
c.4293A>C (p.Lys1431Asn)
c.4284A>C (p.Lys1428Asn)
c.2622A>C (p.Lys874Asn)
Xg.108686101A>GCA10489331COL4A5c.4287A>G (p.Lys1429=)
c.4269A>G (p.Lys1423=)
n.781A>G
n.690A>G
c.83A>G
c.4278A>G (p.Lys1426=)
c.3963A>G (p.Lys1321=)
c.1860A>G (p.Lys620=)
c.4302A>G (p.Lys1434=)
c.4293A>G (p.Lys1431=)
c.4284A>G (p.Lys1428=)
c.2622A>G (p.Lys874=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686101A>TCA413853738COL4A5c.4287A>T (p.Lys1429Asn)
c.4269A>T (p.Lys1423Asn)
n.781A>T
n.690A>T
c.83A>T
c.4278A>T (p.Lys1426Asn)
c.3963A>T (p.Lys1321Asn)
c.1860A>T (p.Lys620Asn)
c.4302A>T (p.Lys1434Asn)
c.4293A>T (p.Lys1431Asn)
c.4284A>T (p.Lys1428Asn)
c.2622A>T (p.Lys874Asn)
Xg.108686102G>ACA413853740COL4A5c.4288G>A (p.Gly1430Arg)
c.4270G>A (p.Gly1424Arg)
n.782G>A
n.691G>A
c.84G>A
c.4279G>A (p.Gly1427Arg)
c.3964G>A (p.Gly1322Arg)
c.1861G>A (p.Gly621Arg)
c.4303G>A (p.Gly1435Arg)
c.4294G>A (p.Gly1432Arg)
c.4285G>A (p.Gly1429Arg)
c.2623G>A (p.Gly875Arg)
Xg.108686102G>CCA413853742COL4A5c.4288G>C (p.Gly1430Arg)
c.4270G>C (p.Gly1424Arg)
n.782G>C
n.691G>C
c.84G>C
c.4279G>C (p.Gly1427Arg)
c.3964G>C (p.Gly1322Arg)
c.1861G>C (p.Gly621Arg)
c.4303G>C (p.Gly1435Arg)
c.4294G>C (p.Gly1432Arg)
c.4285G>C (p.Gly1429Arg)
c.2623G>C (p.Gly875Arg)
Xg.108686102G>TCA413853744COL4A5c.4288G>T (p.Gly1430Ter)
c.4270G>T (p.Gly1424Ter)
n.782G>T
n.691G>T
c.84G>T
c.4279G>T (p.Gly1427Ter)
c.3964G>T (p.Gly1322Ter)
c.1861G>T (p.Gly621Ter)
c.4303G>T (p.Gly1435Ter)
c.4294G>T (p.Gly1432Ter)
c.4285G>T (p.Gly1429Ter)
c.2623G>T (p.Gly875Ter)
Xg.108686103G>ACA261093COL4A5c.4289G>A (p.Gly1430Glu)
c.4271G>A (p.Gly1424Glu)
n.783G>A
n.692G>A
c.85G>A
c.4280G>A (p.Gly1427Glu)
c.3965G>A (p.Gly1322Glu)
c.1862G>A (p.Gly621Glu)
c.4304G>A (p.Gly1435Glu)
c.4295G>A (p.Gly1432Glu)
c.4286G>A (p.Gly1429Glu)
c.2624G>A (p.Gly875Glu)
dbSNP
Xg.108686103G>CCA413853747COL4A5c.4289G>C (p.Gly1430Ala)
c.4271G>C (p.Gly1424Ala)
n.783G>C
n.692G>C
c.85G>C
c.4280G>C (p.Gly1427Ala)
c.3965G>C (p.Gly1322Ala)
c.1862G>C (p.Gly621Ala)
c.4304G>C (p.Gly1435Ala)
c.4295G>C (p.Gly1432Ala)
c.4286G>C (p.Gly1429Ala)
c.2624G>C (p.Gly875Ala)
Xg.108686103G=CA2450718778COL4A5c.4289G= (p.Gly1430=)
c.4271G= (p.Gly1424=)
n.783G=
n.692G=
c.85G=
c.4280G= (p.Gly1427=)
c.3965G= (p.Gly1322=)
c.1862G= (p.Gly621=)
c.4304G= (p.Gly1435=)
c.4295G= (p.Gly1432=)
c.4286G= (p.Gly1429=)
c.2624G= (p.Gly875=)
Xg.108686103G>TCA413853748COL4A5c.4289G>T (p.Gly1430Val)
c.4271G>T (p.Gly1424Val)
n.783G>T
n.692G>T
c.85G>T
c.4280G>T (p.Gly1427Val)
c.3965G>T (p.Gly1322Val)
c.1862G>T (p.Gly621Val)
c.4304G>T (p.Gly1435Val)
c.4295G>T (p.Gly1432Val)
c.4286G>T (p.Gly1429Val)
c.2624G>T (p.Gly875Val)
Xg.108686104A>CCA517924174COL4A5c.4290A>C (p.Gly1430=)
c.4272A>C (p.Gly1424=)
n.784A>C
n.693A>C
c.86A>C
c.4281A>C (p.Gly1427=)
c.3966A>C (p.Gly1322=)
c.1863A>C (p.Gly621=)
c.4305A>C (p.Gly1435=)
c.4296A>C (p.Gly1432=)
c.4287A>C (p.Gly1429=)
c.2625A>C (p.Gly875=)
Xg.108686104A>GCA517924176COL4A5c.4290A>G (p.Gly1430=)
c.4272A>G (p.Gly1424=)
n.784A>G
n.693A>G
c.86A>G
c.4281A>G (p.Gly1427=)
c.3966A>G (p.Gly1322=)
c.1863A>G (p.Gly621=)
c.4305A>G (p.Gly1435=)
c.4296A>G (p.Gly1432=)
c.4287A>G (p.Gly1429=)
c.2625A>G (p.Gly875=)
Xg.108686104A>TCA517924175COL4A5c.4290A>T (p.Gly1430=)
c.4272A>T (p.Gly1424=)
n.784A>T
n.693A>T
c.86A>T
c.4281A>T (p.Gly1427=)
c.3966A>T (p.Gly1322=)
c.1863A>T (p.Gly621=)
c.4305A>T (p.Gly1435=)
c.4296A>T (p.Gly1432=)
c.4287A>T (p.Gly1429=)
c.2625A>T (p.Gly875=)
Xg.108686104_108686111delinsAGACCCAGCA2450718779COL4A5c.4290_4297delinsAGACCCAG (p.Gly1430=)
c.4272_4279delinsAGACCCAG (p.Gly1424=)
n.784_791delinsAGACCCAG
n.693_700delinsAGACCCAG
c.86_93delinsAGACCCAG
c.4281_4288delinsAGACCCAG (p.Gly1427=)
c.3966_3973delinsAGACCCAG (p.Gly1322=)
c.1863_1870delinsAGACCCAG (p.Gly621=)
c.4305_4312delinsAGACCCAG (p.Gly1435=)
c.4296_4303delinsAGACCCAG (p.Gly1432=)
c.4287_4294delinsAGACCCAG (p.Gly1429=)
c.2625_2632delinsAGACCCAG (p.Gly875=)
Xg.108686105G>ACA413853751COL4A5c.4291G>A (p.Asp1431Asn)
c.4273G>A (p.Asp1425Asn)
n.785G>A
n.694G>A
c.87G>A
c.4282G>A (p.Asp1428Asn)
c.3967G>A (p.Asp1323Asn)
c.1864G>A (p.Asp622Asn)
c.4306G>A (p.Asp1436Asn)
c.4297G>A (p.Asp1433Asn)
c.4288G>A (p.Asp1430Asn)
c.2626G>A (p.Asp876Asn)
Xg.108686105G>CCA413853753COL4A5c.4291G>C (p.Asp1431His)
c.4273G>C (p.Asp1425His)
n.785G>C
n.694G>C
c.87G>C
c.4282G>C (p.Asp1428His)
c.3967G>C (p.Asp1323His)
c.1864G>C (p.Asp622His)
c.4306G>C (p.Asp1436His)
c.4297G>C (p.Asp1433His)
c.4288G>C (p.Asp1430His)
c.2626G>C (p.Asp876His)
Xg.108686105G>TCA413853754COL4A5c.4291G>T (p.Asp1431Tyr)
c.4273G>T (p.Asp1425Tyr)
n.785G>T
n.694G>T
c.87G>T
c.4282G>T (p.Asp1428Tyr)
c.3967G>T (p.Asp1323Tyr)
c.1864G>T (p.Asp622Tyr)
c.4306G>T (p.Asp1436Tyr)
c.4297G>T (p.Asp1433Tyr)
c.4288G>T (p.Asp1430Tyr)
c.2626G>T (p.Asp876Tyr)
Xg.108686105_108686111delinsCTCA2450718780COL4A5c.4291_4297delinsCT (p.Asp1431LeufsTer?)
c.4273_4279delinsCT (p.Asp1425LeufsTer?)
n.785_791delinsCT
n.694_700delinsCT
c.87_93delinsCT
c.4282_4288delinsCT (p.Asp1428LeufsTer?)
c.3967_3973delinsCT (p.Asp1323LeufsTer?)
c.1864_1870delinsCT (p.Asp622LeufsTer?)
c.4306_4312delinsCT (p.Asp1436LeufsTer?)
c.4297_4303delinsCT (p.Asp1433LeufsTer?)
c.4288_4294delinsCT (p.Asp1430LeufsTer?)
c.2626_2632delinsCT (p.Asp876LeufsTer?)
ClinVar dbSNP
Xg.108686106A=CA2450718781COL4A5c.4292A= (p.Asp1431=)
c.4274A= (p.Asp1425=)
n.786A=
n.695A=
c.88A=
c.4283A= (p.Asp1428=)
c.3968A= (p.Asp1323=)
c.1865A= (p.Asp622=)
c.4307A= (p.Asp1436=)
c.4298A= (p.Asp1433=)
c.4289A= (p.Asp1430=)
c.2627A= (p.Asp876=)
Xg.108686106A>CCA413853758COL4A5c.4292A>C (p.Asp1431Ala)
c.4274A>C (p.Asp1425Ala)
n.786A>C
n.695A>C
c.88A>C
c.4283A>C (p.Asp1428Ala)
c.3968A>C (p.Asp1323Ala)
c.1865A>C (p.Asp622Ala)
c.4307A>C (p.Asp1436Ala)
c.4298A>C (p.Asp1433Ala)
c.4289A>C (p.Asp1430Ala)
c.2627A>C (p.Asp876Ala)
Xg.108686106A>GCA413853760COL4A5c.4292A>G (p.Asp1431Gly)
c.4274A>G (p.Asp1425Gly)
n.786A>G
n.695A>G
c.88A>G
c.4283A>G (p.Asp1428Gly)
c.3968A>G (p.Asp1323Gly)
c.1865A>G (p.Asp622Gly)
c.4307A>G (p.Asp1436Gly)
c.4298A>G (p.Asp1433Gly)
c.4289A>G (p.Asp1430Gly)
c.2627A>G (p.Asp876Gly)
Xg.108686106A>TCA10489332COL4A5c.4292A>T (p.Asp1431Val)
c.4274A>T (p.Asp1425Val)
n.786A>T
n.695A>T
c.88A>T
c.4283A>T (p.Asp1428Val)
c.3968A>T (p.Asp1323Val)
c.1865A>T (p.Asp622Val)
c.4307A>T (p.Asp1436Val)
c.4298A>T (p.Asp1433Val)
c.4289A>T (p.Asp1430Val)
c.2627A>T (p.Asp876Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686107C>ACA413853763COL4A5c.4293C>A (p.Asp1431Glu)
c.4275C>A (p.Asp1425Glu)
n.787C>A
n.696C>A
c.89C>A
c.4284C>A (p.Asp1428Glu)
c.3969C>A (p.Asp1323Glu)
c.1866C>A (p.Asp622Glu)
c.4308C>A (p.Asp1436Glu)
c.4299C>A (p.Asp1433Glu)
c.4290C>A (p.Asp1430Glu)
c.2628C>A (p.Asp876Glu)
Xg.108686107C=CA2450718782COL4A5c.4293C= (p.Asp1431=)
c.4275C= (p.Asp1425=)
n.787C=
n.696C=
c.89C=
c.4284C= (p.Asp1428=)
c.3969C= (p.Asp1323=)
c.1866C= (p.Asp622=)
c.4308C= (p.Asp1436=)
c.4299C= (p.Asp1433=)
c.4290C= (p.Asp1430=)
c.2628C= (p.Asp876=)
Xg.108686107C>GCA413853764COL4A5c.4293C>G (p.Asp1431Glu)
c.4275C>G (p.Asp1425Glu)
n.787C>G
n.696C>G
c.89C>G
c.4284C>G (p.Asp1428Glu)
c.3969C>G (p.Asp1323Glu)
c.1866C>G (p.Asp622Glu)
c.4308C>G (p.Asp1436Glu)
c.4299C>G (p.Asp1433Glu)
c.4290C>G (p.Asp1430Glu)
c.2628C>G (p.Asp876Glu)
COSMIC COSMIC
Xg.108686107C>TCA259012COL4A5c.4293C>T (p.Asp1431=)
c.4275C>T (p.Asp1425=)
n.787C>T
n.696C>T
c.89C>T
c.4284C>T (p.Asp1428=)
c.3969C>T (p.Asp1323=)
c.1866C>T (p.Asp622=)
c.4308C>T (p.Asp1436=)
c.4299C>T (p.Asp1433=)
c.4290C>T (p.Asp1430=)
c.2628C>T (p.Asp876=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686109delCA2695235232COL4A5c.4295del (p.Pro1432GlnfsTer?)
c.4277del (p.Pro1426GlnfsTer?)
n.789del
n.698del
c.91del
c.4286del (p.Pro1429GlnfsTer?)
c.3971del (p.Pro1324GlnfsTer?)
c.1868del (p.Pro623GlnfsTer?)
c.4310del (p.Pro1437GlnfsTer?)
c.4301del (p.Pro1434GlnfsTer?)
c.4292del (p.Pro1431GlnfsTer?)
c.2630del (p.Pro877GlnfsTer?)
Xg.108686108C>ACA413853767COL4A5c.4294C>A (p.Pro1432Thr)
c.4276C>A (p.Pro1426Thr)
n.788C>A
n.697C>A
c.90C>A
c.4285C>A (p.Pro1429Thr)
c.3970C>A (p.Pro1324Thr)
c.1867C>A (p.Pro623Thr)
c.4309C>A (p.Pro1437Thr)
c.4300C>A (p.Pro1434Thr)
c.4291C>A (p.Pro1431Thr)
c.2629C>A (p.Pro877Thr)
gnomAD v4
Xg.108686108C>GCA413853768COL4A5c.4294C>G (p.Pro1432Ala)
c.4276C>G (p.Pro1426Ala)
n.788C>G
n.697C>G
c.90C>G
c.4285C>G (p.Pro1429Ala)
c.3970C>G (p.Pro1324Ala)
c.1867C>G (p.Pro623Ala)
c.4309C>G (p.Pro1437Ala)
c.4300C>G (p.Pro1434Ala)
c.4291C>G (p.Pro1431Ala)
c.2629C>G (p.Pro877Ala)
gnomAD v4
Xg.108686108C>TCA413853769COL4A5c.4294C>T (p.Pro1432Ser)
c.4276C>T (p.Pro1426Ser)
n.788C>T
n.697C>T
c.90C>T
c.4285C>T (p.Pro1429Ser)
c.3970C>T (p.Pro1324Ser)
c.1867C>T (p.Pro623Ser)
c.4309C>T (p.Pro1437Ser)
c.4300C>T (p.Pro1434Ser)
c.4291C>T (p.Pro1431Ser)
c.2629C>T (p.Pro877Ser)
Xg.108686109C>ACA413853772COL4A5c.4295C>A (p.Pro1432Gln)
c.4277C>A (p.Pro1426Gln)
n.789C>A
n.698C>A
c.91C>A
c.4286C>A (p.Pro1429Gln)
c.3971C>A (p.Pro1324Gln)
c.1868C>A (p.Pro623Gln)
c.4310C>A (p.Pro1437Gln)
c.4301C>A (p.Pro1434Gln)
c.4292C>A (p.Pro1431Gln)
c.2630C>A (p.Pro877Gln)
Xg.108686109C>GCA413853775COL4A5c.4295C>G (p.Pro1432Arg)
c.4277C>G (p.Pro1426Arg)
n.789C>G
n.698C>G
c.91C>G
c.4286C>G (p.Pro1429Arg)
c.3971C>G (p.Pro1324Arg)
c.1868C>G (p.Pro623Arg)
c.4310C>G (p.Pro1437Arg)
c.4301C>G (p.Pro1434Arg)
c.4292C>G (p.Pro1431Arg)
c.2630C>G (p.Pro877Arg)
Xg.108686109C>TCA413853774COL4A5c.4295C>T (p.Pro1432Leu)
c.4277C>T (p.Pro1426Leu)
n.789C>T
n.698C>T
c.91C>T
c.4286C>T (p.Pro1429Leu)
c.3971C>T (p.Pro1324Leu)
c.1868C>T (p.Pro623Leu)
c.4310C>T (p.Pro1437Leu)
c.4301C>T (p.Pro1434Leu)
c.4292C>T (p.Pro1431Leu)
c.2630C>T (p.Pro877Leu)
Xg.108686110A=CA2450718783COL4A5c.4296A= (p.Pro1432=)
c.4278A= (p.Pro1426=)
n.790A=
n.699A=
c.92A=
c.4287A= (p.Pro1429=)
c.3972A= (p.Pro1324=)
c.1869A= (p.Pro623=)
c.4311A= (p.Pro1437=)
c.4302A= (p.Pro1434=)
c.4293A= (p.Pro1431=)
c.2631A= (p.Pro877=)
Xg.108686110A>CCA517924183COL4A5c.4296A>C (p.Pro1432=)
c.4278A>C (p.Pro1426=)
n.790A>C
n.699A>C
c.92A>C
c.4287A>C (p.Pro1429=)
c.3972A>C (p.Pro1324=)
c.1869A>C (p.Pro623=)
c.4311A>C (p.Pro1437=)
c.4302A>C (p.Pro1434=)
c.4293A>C (p.Pro1431=)
c.2631A>C (p.Pro877=)
Xg.108686110A>GCA10489333COL4A5c.4296A>G (p.Pro1432=)
c.4278A>G (p.Pro1426=)
n.790A>G
n.699A>G
c.92A>G
c.4287A>G (p.Pro1429=)
c.3972A>G (p.Pro1324=)
c.1869A>G (p.Pro623=)
c.4311A>G (p.Pro1437=)
c.4302A>G (p.Pro1434=)
c.4293A>G (p.Pro1431=)
c.2631A>G (p.Pro877=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686110A>TCA517924184COL4A5c.4296A>T (p.Pro1432=)
c.4278A>T (p.Pro1426=)
n.790A>T
n.699A>T
c.92A>T
c.4287A>T (p.Pro1429=)
c.3972A>T (p.Pro1324=)
c.1869A>T (p.Pro623=)
c.4311A>T (p.Pro1437=)
c.4302A>T (p.Pro1434=)
c.4293A>T (p.Pro1431=)
c.2631A>T (p.Pro877=)
Xg.108686111G>ACA413853779COL4A5c.4297G>A (p.Gly1433Ser)
c.4279G>A (p.Gly1427Ser)
n.791G>A
n.700G>A
c.93G>A
c.4288G>A (p.Gly1430Ser)
c.3973G>A (p.Gly1325Ser)
c.1870G>A (p.Gly624Ser)
c.4312G>A (p.Gly1438Ser)
c.4303G>A (p.Gly1435Ser)
c.4294G>A (p.Gly1432Ser)
c.2632G>A (p.Gly878Ser)
gnomAD v4
Xg.108686111G>CCA334058384COL4A5c.4297G>C (p.Gly1433Arg)
c.4279G>C (p.Gly1427Arg)
n.791G>C
n.700G>C
c.93G>C
c.4288G>C (p.Gly1430Arg)
c.3973G>C (p.Gly1325Arg)
c.1870G>C (p.Gly624Arg)
c.4312G>C (p.Gly1438Arg)
c.4303G>C (p.Gly1435Arg)
c.4294G>C (p.Gly1432Arg)
c.2632G>C (p.Gly878Arg)
dbSNP
Xg.108686111G=CA2450718784COL4A5c.4297G= (p.Gly1433=)
c.4279G= (p.Gly1427=)
n.791G=
n.700G=
c.93G=
c.4288G= (p.Gly1430=)
c.3973G= (p.Gly1325=)
c.1870G= (p.Gly624=)
c.4312G= (p.Gly1438=)
c.4303G= (p.Gly1435=)
c.4294G= (p.Gly1432=)
c.2632G= (p.Gly878=)
Xg.108686111G>TCA259015COL4A5c.4297G>T (p.Gly1433Cys)
c.4279G>T (p.Gly1427Cys)
n.791G>T
n.700G>T
c.93G>T
c.4288G>T (p.Gly1430Cys)
c.3973G>T (p.Gly1325Cys)
c.1870G>T (p.Gly624Cys)
c.4312G>T (p.Gly1438Cys)
c.4303G>T (p.Gly1435Cys)
c.4294G>T (p.Gly1432Cys)
c.2632G>T (p.Gly878Cys)
dbSNP
Xg.108686112G>ACA334058397COL4A5c.4298G>A (p.Gly1433Asp)
c.4280G>A (p.Gly1427Asp)
n.792G>A
n.701G>A
c.94G>A
c.4289G>A (p.Gly1430Asp)
c.3974G>A (p.Gly1325Asp)
c.1871G>A (p.Gly624Asp)
c.4313G>A (p.Gly1438Asp)
c.4304G>A (p.Gly1435Asp)
c.4295G>A (p.Gly1432Asp)
c.2633G>A (p.Gly878Asp)
dbSNP
Xg.108686112G>CCA261096COL4A5c.4298G>C (p.Gly1433Ala)
c.4280G>C (p.Gly1427Ala)
n.792G>C
n.701G>C
c.94G>C
c.4289G>C (p.Gly1430Ala)
c.3974G>C (p.Gly1325Ala)
c.1871G>C (p.Gly624Ala)
c.4313G>C (p.Gly1438Ala)
c.4304G>C (p.Gly1435Ala)
c.4295G>C (p.Gly1432Ala)
c.2633G>C (p.Gly878Ala)
dbSNP
Xg.108686112G=CA2450718785COL4A5c.4298G= (p.Gly1433=)
c.4280G= (p.Gly1427=)
n.792G=
n.701G=
c.94G=
c.4289G= (p.Gly1430=)
c.3974G= (p.Gly1325=)
c.1871G= (p.Gly624=)
c.4313G= (p.Gly1438=)
c.4304G= (p.Gly1435=)
c.4295G= (p.Gly1432=)
c.2633G= (p.Gly878=)
Xg.108686112G>TCA259019COL4A5c.4298G>T (p.Gly1433Val)
c.4280G>T (p.Gly1427Val)
n.792G>T
n.701G>T
c.94G>T
c.4289G>T (p.Gly1430Val)
c.3974G>T (p.Gly1325Val)
c.1871G>T (p.Gly624Val)
c.4313G>T (p.Gly1438Val)
c.4304G>T (p.Gly1435Val)
c.4295G>T (p.Gly1432Val)
c.2633G>T (p.Gly878Val)
dbSNP
Xg.108686113T>ACA517924189COL4A5c.4299T>A (p.Gly1433=)
c.4281T>A (p.Gly1427=)
n.793T>A
n.702T>A
c.95T>A
c.4290T>A (p.Gly1430=)
c.3975T>A (p.Gly1325=)
c.1872T>A (p.Gly624=)
c.4314T>A (p.Gly1438=)
c.4305T>A (p.Gly1435=)
c.4296T>A (p.Gly1432=)
c.2634T>A (p.Gly878=)
ClinVar dbSNP
Xg.108686113T>CCA517924190COL4A5c.4299T>C (p.Gly1433=)
c.4281T>C (p.Gly1427=)
n.793T>C
n.702T>C
c.95T>C
c.4290T>C (p.Gly1430=)
c.3975T>C (p.Gly1325=)
c.1872T>C (p.Gly624=)
c.4314T>C (p.Gly1438=)
c.4305T>C (p.Gly1435=)
c.4296T>C (p.Gly1432=)
c.2634T>C (p.Gly878=)
Xg.108686113T>GCA517924191COL4A5c.4299T>G (p.Gly1433=)
c.4281T>G (p.Gly1427=)
n.793T>G
n.702T>G
c.95T>G
c.4290T>G (p.Gly1430=)
c.3975T>G (p.Gly1325=)
c.1872T>G (p.Gly624=)
c.4314T>G (p.Gly1438=)
c.4305T>G (p.Gly1435=)
c.4296T>G (p.Gly1432=)
c.2634T>G (p.Gly878=)
Xg.108686114C>ACA413853784COL4A5c.4300C>A (p.Leu1434Met)
c.4282C>A (p.Leu1428Met)
n.794C>A
n.703C>A
c.96C>A
c.4291C>A (p.Leu1431Met)
c.3976C>A (p.Leu1326Met)
c.1873C>A (p.Leu625Met)
c.4315C>A (p.Leu1439Met)
c.4306C>A (p.Leu1436Met)
c.4297C>A (p.Leu1433Met)
c.2635C>A (p.Leu879Met)
Xg.108686114C=CA2450718786COL4A5c.4300C= (p.Leu1434=)
c.4282C= (p.Leu1428=)
n.794C=
n.703C=
c.96C=
c.4291C= (p.Leu1431=)
c.3976C= (p.Leu1326=)
c.1873C= (p.Leu625=)
c.4315C= (p.Leu1439=)
c.4306C= (p.Leu1436=)
c.4297C= (p.Leu1433=)
c.2635C= (p.Leu879=)
Xg.108686114C>GCA413853786COL4A5c.4300C>G (p.Leu1434Val)
c.4282C>G (p.Leu1428Val)
n.794C>G
n.703C>G
c.96C>G
c.4291C>G (p.Leu1431Val)
c.3976C>G (p.Leu1326Val)
c.1873C>G (p.Leu625Val)
c.4315C>G (p.Leu1439Val)
c.4306C>G (p.Leu1436Val)
c.4297C>G (p.Leu1433Val)
c.2635C>G (p.Leu879Val)
COSMIC COSMIC
Xg.108686114C>TCA517924192COL4A5c.4300C>T (p.Leu1434=)
c.4282C>T (p.Leu1428=)
n.794C>T
n.703C>T
c.96C>T
c.4291C>T (p.Leu1431=)
c.3976C>T (p.Leu1326=)
c.1873C>T (p.Leu625=)
c.4315C>T (p.Leu1439=)
c.4306C>T (p.Leu1436=)
c.4297C>T (p.Leu1433=)
c.2635C>T (p.Leu879=)
Xg.108686115T>ACA413853788COL4A5c.4301T>A (p.Leu1434Gln)
c.4283T>A (p.Leu1428Gln)
n.795T>A
n.704T>A
c.97T>A
c.4292T>A (p.Leu1431Gln)
c.3977T>A (p.Leu1326Gln)
c.1874T>A (p.Leu625Gln)
c.4316T>A (p.Leu1439Gln)
c.4307T>A (p.Leu1436Gln)
c.4298T>A (p.Leu1433Gln)
c.2636T>A (p.Leu879Gln)
Xg.108686115T>CCA413853790COL4A5c.4301T>C (p.Leu1434Pro)
c.4283T>C (p.Leu1428Pro)
n.795T>C
n.704T>C
c.97T>C
c.4292T>C (p.Leu1431Pro)
c.3977T>C (p.Leu1326Pro)
c.1874T>C (p.Leu625Pro)
c.4316T>C (p.Leu1439Pro)
c.4307T>C (p.Leu1436Pro)
c.4298T>C (p.Leu1433Pro)
c.2636T>C (p.Leu879Pro)
Xg.108686115T>GCA413853789COL4A5c.4301T>G (p.Leu1434Arg)
c.4283T>G (p.Leu1428Arg)
n.795T>G
n.704T>G
c.97T>G
c.4292T>G (p.Leu1431Arg)
c.3977T>G (p.Leu1326Arg)
c.1874T>G (p.Leu625Arg)
c.4316T>G (p.Leu1439Arg)
c.4307T>G (p.Leu1436Arg)
c.4298T>G (p.Leu1433Arg)
c.2636T>G (p.Leu879Arg)
Xg.108686116G>ACA517924196COL4A5c.4302G>A (p.Leu1434=)
c.4284G>A (p.Leu1428=)
n.796G>A
n.705G>A
c.98G>A
c.4293G>A (p.Leu1431=)
c.3978G>A (p.Leu1326=)
c.1875G>A (p.Leu625=)
c.4317G>A (p.Leu1439=)
c.4308G>A (p.Leu1436=)
c.4299G>A (p.Leu1433=)
c.2637G>A (p.Leu879=)
Xg.108686116G>CCA517924197COL4A5c.4302G>C (p.Leu1434=)
c.4284G>C (p.Leu1428=)
n.796G>C
n.705G>C
c.98G>C
c.4293G>C (p.Leu1431=)
c.3978G>C (p.Leu1326=)
c.1875G>C (p.Leu625=)
c.4317G>C (p.Leu1439=)
c.4308G>C (p.Leu1436=)
c.4299G>C (p.Leu1433=)
c.2637G>C (p.Leu879=)
Xg.108686116G>TCA517924198COL4A5c.4302G>T (p.Leu1434=)
c.4284G>T (p.Leu1428=)
n.796G>T
n.705G>T
c.98G>T
c.4293G>T (p.Leu1431=)
c.3978G>T (p.Leu1326=)
c.1875G>T (p.Leu625=)
c.4317G>T (p.Leu1439=)
c.4308G>T (p.Leu1436=)
c.4299G>T (p.Leu1433=)
c.2637G>T (p.Leu879=)
ClinVar
Xg.108686122_108686130dupCA2694414718COL4A5c.4308_4315+1dup
c.4290_4297+1dup
n.802_809+1dup
n.711_718+1dup
c.104_111+1dup
c.4299_4306+1dup
c.3984_3991+1dup
c.1881_1888+1dup
c.4323_4330+1dup
c.4314_4321+1dup
c.4305_4312+1dup
c.2643_2650+1dup
gnomAD v4
Xg.108686117C>ACA413853793COL4A5c.4303C>A (p.Pro1435Thr)
c.4285C>A (p.Pro1429Thr)
n.797C>A
n.706C>A
c.99C>A
c.4294C>A (p.Pro1432Thr)
c.3979C>A (p.Pro1327Thr)
c.1876C>A (p.Pro626Thr)
c.4318C>A (p.Pro1440Thr)
c.4309C>A (p.Pro1437Thr)
c.4300C>A (p.Pro1434Thr)
c.2638C>A (p.Pro880Thr)
Xg.108686117C>GCA413853795COL4A5c.4303C>G (p.Pro1435Ala)
c.4285C>G (p.Pro1429Ala)
n.797C>G
n.706C>G
c.99C>G
c.4294C>G (p.Pro1432Ala)
c.3979C>G (p.Pro1327Ala)
c.1876C>G (p.Pro626Ala)
c.4318C>G (p.Pro1440Ala)
c.4309C>G (p.Pro1437Ala)
c.4300C>G (p.Pro1434Ala)
c.2638C>G (p.Pro880Ala)
Xg.108686117C>TCA413853797COL4A5c.4303C>T (p.Pro1435Ser)
c.4285C>T (p.Pro1429Ser)
n.797C>T
n.706C>T
c.99C>T
c.4294C>T (p.Pro1432Ser)
c.3979C>T (p.Pro1327Ser)
c.1876C>T (p.Pro626Ser)
c.4318C>T (p.Pro1440Ser)
c.4309C>T (p.Pro1437Ser)
c.4300C>T (p.Pro1434Ser)
c.2638C>T (p.Pro880Ser)
ClinVar
Xg.108686118C>ACA413853799COL4A5c.4304C>A (p.Pro1435Gln)
c.4286C>A (p.Pro1429Gln)
n.798C>A
n.707C>A
c.100C>A
c.4295C>A (p.Pro1432Gln)
c.3980C>A (p.Pro1327Gln)
c.1877C>A (p.Pro626Gln)
c.4319C>A (p.Pro1440Gln)
c.4310C>A (p.Pro1437Gln)
c.4301C>A (p.Pro1434Gln)
c.2639C>A (p.Pro880Gln)
Xg.108686118C=CA2450718787COL4A5c.4304C= (p.Pro1435=)
c.4286C= (p.Pro1429=)
n.798C=
n.707C=
c.100C=
c.4295C= (p.Pro1432=)
c.3980C= (p.Pro1327=)
c.1877C= (p.Pro626=)
c.4319C= (p.Pro1440=)
c.4310C= (p.Pro1437=)
c.4301C= (p.Pro1434=)
c.2639C= (p.Pro880=)
Xg.108686118C>GCA10489334COL4A5c.4304C>G (p.Pro1435Arg)
c.4286C>G (p.Pro1429Arg)
n.798C>G
n.707C>G
c.100C>G
c.4295C>G (p.Pro1432Arg)
c.3980C>G (p.Pro1327Arg)
c.1877C>G (p.Pro626Arg)
c.4319C>G (p.Pro1440Arg)
c.4310C>G (p.Pro1437Arg)
c.4301C>G (p.Pro1434Arg)
c.2639C>G (p.Pro880Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686118C>TCA413853802COL4A5c.4304C>T (p.Pro1435Leu)
c.4286C>T (p.Pro1429Leu)
n.798C>T
n.707C>T
c.100C>T
c.4295C>T (p.Pro1432Leu)
c.3980C>T (p.Pro1327Leu)
c.1877C>T (p.Pro626Leu)
c.4319C>T (p.Pro1440Leu)
c.4310C>T (p.Pro1437Leu)
c.4301C>T (p.Pro1434Leu)
c.2639C>T (p.Pro880Leu)
Xg.108686119A>CCA517924203COL4A5c.4305A>C (p.Pro1435=)
c.4287A>C (p.Pro1429=)
n.799A>C
n.708A>C
c.101A>C
c.4296A>C (p.Pro1432=)
c.3981A>C (p.Pro1327=)
c.1878A>C (p.Pro626=)
c.4320A>C (p.Pro1440=)
c.4311A>C (p.Pro1437=)
c.4302A>C (p.Pro1434=)
c.2640A>C (p.Pro880=)
Xg.108686119A>GCA517924204COL4A5c.4305A>G (p.Pro1435=)
c.4287A>G (p.Pro1429=)
n.799A>G
n.708A>G
c.101A>G
c.4296A>G (p.Pro1432=)
c.3981A>G (p.Pro1327=)
c.1878A>G (p.Pro626=)
c.4320A>G (p.Pro1440=)
c.4311A>G (p.Pro1437=)
c.4302A>G (p.Pro1434=)
c.2640A>G (p.Pro880=)
gnomAD v4
Xg.108686119A>TCA517924202COL4A5c.4305A>T (p.Pro1435=)
c.4287A>T (p.Pro1429=)
n.799A>T
n.708A>T
c.101A>T
c.4296A>T (p.Pro1432=)
c.3981A>T (p.Pro1327=)
c.1878A>T (p.Pro626=)
c.4320A>T (p.Pro1440=)
c.4311A>T (p.Pro1437=)
c.4302A>T (p.Pro1434=)
c.2640A>T (p.Pro880=)
Xg.108686120G>ACA413853804COL4A5c.4306G>A (p.Gly1436Arg)
c.4288G>A (p.Gly1430Arg)
n.800G>A
n.709G>A
c.102G>A
c.4297G>A (p.Gly1433Arg)
c.3982G>A (p.Gly1328Arg)
c.1879G>A (p.Gly627Arg)
c.4321G>A (p.Gly1441Arg)
c.4312G>A (p.Gly1438Arg)
c.4303G>A (p.Gly1435Arg)
c.2641G>A (p.Gly881Arg)
Xg.108686120G>CCA413853806COL4A5c.4306G>C (p.Gly1436Arg)
c.4288G>C (p.Gly1430Arg)
n.800G>C
n.709G>C
c.102G>C
c.4297G>C (p.Gly1433Arg)
c.3982G>C (p.Gly1328Arg)
c.1879G>C (p.Gly627Arg)
c.4321G>C (p.Gly1441Arg)
c.4312G>C (p.Gly1438Arg)
c.4303G>C (p.Gly1435Arg)
c.2641G>C (p.Gly881Arg)
Xg.108686120G>TCA413853808COL4A5c.4306G>T (p.Gly1436Ter)
c.4288G>T (p.Gly1430Ter)
n.800G>T
n.709G>T
c.102G>T
c.4297G>T (p.Gly1433Ter)
c.3982G>T (p.Gly1328Ter)
c.1879G>T (p.Gly627Ter)
c.4321G>T (p.Gly1441Ter)
c.4312G>T (p.Gly1438Ter)
c.4303G>T (p.Gly1435Ter)
c.2641G>T (p.Gly881Ter)
Xg.108686121G>ACA413853810COL4A5c.4307G>A (p.Gly1436Glu)
c.4289G>A (p.Gly1430Glu)
n.801G>A
n.710G>A
c.103G>A
c.4298G>A (p.Gly1433Glu)
c.3983G>A (p.Gly1328Glu)
c.1880G>A (p.Gly627Glu)
c.4322G>A (p.Gly1441Glu)
c.4313G>A (p.Gly1438Glu)
c.4304G>A (p.Gly1435Glu)
c.2642G>A (p.Gly881Glu)
Xg.108686121G>CCA413853812COL4A5c.4307G>C (p.Gly1436Ala)
c.4289G>C (p.Gly1430Ala)
n.801G>C
n.710G>C
c.103G>C
c.4298G>C (p.Gly1433Ala)
c.3983G>C (p.Gly1328Ala)
c.1880G>C (p.Gly627Ala)
c.4322G>C (p.Gly1441Ala)
c.4313G>C (p.Gly1438Ala)
c.4304G>C (p.Gly1435Ala)
c.2642G>C (p.Gly881Ala)
COSMIC COSMIC
Xg.108686121G>TCA413853814COL4A5c.4307G>T (p.Gly1436Val)
c.4289G>T (p.Gly1430Val)
n.801G>T
n.710G>T
c.103G>T
c.4298G>T (p.Gly1433Val)
c.3983G>T (p.Gly1328Val)
c.1880G>T (p.Gly627Val)
c.4322G>T (p.Gly1441Val)
c.4313G>T (p.Gly1438Val)
c.4304G>T (p.Gly1435Val)
c.2642G>T (p.Gly881Val)
COSMIC COSMIC
Xg.108686122A>CCA517924211COL4A5c.4308A>C (p.Gly1436=)
c.4290A>C (p.Gly1430=)
n.802A>C
n.711A>C
c.104A>C
c.4299A>C (p.Gly1433=)
c.3984A>C (p.Gly1328=)
c.1881A>C (p.Gly627=)
c.4323A>C (p.Gly1441=)
c.4314A>C (p.Gly1438=)
c.4305A>C (p.Gly1435=)
c.2643A>C (p.Gly881=)
Xg.108686122A>GCA517924212COL4A5c.4308A>G (p.Gly1436=)
c.4290A>G (p.Gly1430=)
n.802A>G
n.711A>G
c.104A>G
c.4299A>G (p.Gly1433=)
c.3984A>G (p.Gly1328=)
c.1881A>G (p.Gly627=)
c.4323A>G (p.Gly1441=)
c.4314A>G (p.Gly1438=)
c.4305A>G (p.Gly1435=)
c.2643A>G (p.Gly881=)
Xg.108686122A>TCA517924214COL4A5c.4308A>T (p.Gly1436=)
c.4290A>T (p.Gly1430=)
n.802A>T
n.711A>T
c.104A>T
c.4299A>T (p.Gly1433=)
c.3984A>T (p.Gly1328=)
c.1881A>T (p.Gly627=)
c.4323A>T (p.Gly1441=)
c.4314A>T (p.Gly1438=)
c.4305A>T (p.Gly1435=)
c.2643A>T (p.Gly881=)
Xg.108686123C>ACA413853819COL4A5c.4309C>A (p.Gln1437Lys)
c.4291C>A (p.Gln1431Lys)
n.803C>A
n.712C>A
c.105C>A
c.4300C>A (p.Gln1434Lys)
c.3985C>A (p.Gln1329Lys)
c.1882C>A (p.Gln628Lys)
c.4324C>A (p.Gln1442Lys)
c.4315C>A (p.Gln1439Lys)
c.4306C>A (p.Gln1436Lys)
c.2644C>A (p.Gln882Lys)
Xg.108686123C=CA2450718788COL4A5c.4309C= (p.Gln1437=)
c.4291C= (p.Gln1431=)
n.803C=
n.712C=
c.105C=
c.4300C= (p.Gln1434=)
c.3985C= (p.Gln1329=)
c.1882C= (p.Gln628=)
c.4324C= (p.Gln1442=)
c.4315C= (p.Gln1439=)
c.4306C= (p.Gln1436=)
c.2644C= (p.Gln882=)
Xg.108686123C>GCA10489335COL4A5c.4309C>G (p.Gln1437Glu)
c.4291C>G (p.Gln1431Glu)
n.803C>G
n.712C>G
c.105C>G
c.4300C>G (p.Gln1434Glu)
c.3985C>G (p.Gln1329Glu)
c.1882C>G (p.Gln628Glu)
c.4324C>G (p.Gln1442Glu)
c.4315C>G (p.Gln1439Glu)
c.4306C>G (p.Gln1436Glu)
c.2644C>G (p.Gln882Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686123C>TCA413853818COL4A5c.4309C>T (p.Gln1437Ter)
c.4291C>T (p.Gln1431Ter)
n.803C>T
n.712C>T
c.105C>T
c.4300C>T (p.Gln1434Ter)
c.3985C>T (p.Gln1329Ter)
c.1882C>T (p.Gln628Ter)
c.4324C>T (p.Gln1442Ter)
c.4315C>T (p.Gln1439Ter)
c.4306C>T (p.Gln1436Ter)
c.2644C>T (p.Gln882Ter)
ClinVar dbSNP gnomAD v4
Xg.108686124A>CCA413853822COL4A5c.4310A>C (p.Gln1437Pro)
c.4292A>C (p.Gln1431Pro)
n.804A>C
n.713A>C
c.106A>C
c.4301A>C (p.Gln1434Pro)
c.3986A>C (p.Gln1329Pro)
c.1883A>C (p.Gln628Pro)
c.4325A>C (p.Gln1442Pro)
c.4316A>C (p.Gln1439Pro)
c.4307A>C (p.Gln1436Pro)
c.2645A>C (p.Gln882Pro)
Xg.108686124A>GCA413853824COL4A5c.4310A>G (p.Gln1437Arg)
c.4292A>G (p.Gln1431Arg)
n.804A>G
n.713A>G
c.106A>G
c.4301A>G (p.Gln1434Arg)
c.3986A>G (p.Gln1329Arg)
c.1883A>G (p.Gln628Arg)
c.4325A>G (p.Gln1442Arg)
c.4316A>G (p.Gln1439Arg)
c.4307A>G (p.Gln1436Arg)
c.2645A>G (p.Gln882Arg)
Xg.108686124A>TCA413853825COL4A5c.4310A>T (p.Gln1437Leu)
c.4292A>T (p.Gln1431Leu)
n.804A>T
n.713A>T
c.106A>T
c.4301A>T (p.Gln1434Leu)
c.3986A>T (p.Gln1329Leu)
c.1883A>T (p.Gln628Leu)
c.4325A>T (p.Gln1442Leu)
c.4316A>T (p.Gln1439Leu)
c.4307A>T (p.Gln1436Leu)
c.2645A>T (p.Gln882Leu)
Xg.108686125G>ACA517924218COL4A5c.4311G>A (p.Gln1437=)
c.4293G>A (p.Gln1431=)
n.805G>A
n.714G>A
c.107G>A
c.4302G>A (p.Gln1434=)
c.3987G>A (p.Gln1329=)
c.1884G>A (p.Gln628=)
c.4326G>A (p.Gln1442=)
c.4317G>A (p.Gln1439=)
c.4308G>A (p.Gln1436=)
c.2646G>A (p.Gln882=)
gnomAD v4
Xg.108686125G>CCA413853828COL4A5c.4311G>C (p.Gln1437His)
c.4293G>C (p.Gln1431His)
n.805G>C
n.714G>C
c.107G>C
c.4302G>C (p.Gln1434His)
c.3987G>C (p.Gln1329His)
c.1884G>C (p.Gln628His)
c.4326G>C (p.Gln1442His)
c.4317G>C (p.Gln1439His)
c.4308G>C (p.Gln1436His)
c.2646G>C (p.Gln882His)
Xg.108686125G>TCA413853830COL4A5c.4311G>T (p.Gln1437His)
c.4293G>T (p.Gln1431His)
n.805G>T
n.714G>T
c.107G>T
c.4302G>T (p.Gln1434His)
c.3987G>T (p.Gln1329His)
c.1884G>T (p.Gln628His)
c.4326G>T (p.Gln1442His)
c.4317G>T (p.Gln1439His)
c.4308G>T (p.Gln1436His)
c.2646G>T (p.Gln882His)
Xg.108686126C>ACA413853831COL4A5c.4312C>A (p.Pro1438Thr)
c.4294C>A (p.Pro1432Thr)
n.806C>A
n.715C>A
c.108C>A
c.4303C>A (p.Pro1435Thr)
c.3988C>A (p.Pro1330Thr)
c.1885C>A (p.Pro629Thr)
c.4327C>A (p.Pro1443Thr)
c.4318C>A (p.Pro1440Thr)
c.4309C>A (p.Pro1437Thr)
c.2647C>A (p.Pro883Thr)
Xg.108686126C>GCA413853832COL4A5c.4312C>G (p.Pro1438Ala)
c.4294C>G (p.Pro1432Ala)
n.806C>G
n.715C>G
c.108C>G
c.4303C>G (p.Pro1435Ala)
c.3988C>G (p.Pro1330Ala)
c.1885C>G (p.Pro629Ala)
c.4327C>G (p.Pro1443Ala)
c.4318C>G (p.Pro1440Ala)
c.4309C>G (p.Pro1437Ala)
c.2647C>G (p.Pro883Ala)
Xg.108686126C>TCA413853834COL4A5c.4312C>T (p.Pro1438Ser)
c.4294C>T (p.Pro1432Ser)
n.806C>T
n.715C>T
c.108C>T
c.4303C>T (p.Pro1435Ser)
c.3988C>T (p.Pro1330Ser)
c.1885C>T (p.Pro629Ser)
c.4327C>T (p.Pro1443Ser)
c.4318C>T (p.Pro1440Ser)
c.4309C>T (p.Pro1437Ser)
c.2647C>T (p.Pro883Ser)
Xg.108686127delCA2580100159COL4A5c.4313del (p.Pro1438GlnfsTer?)
c.4295del (p.Pro1432GlnfsTer?)
n.807del
n.716del
c.109del
c.4304del (p.Pro1435GlnfsTer?)
c.3989del (p.Pro1330GlnfsTer?)
c.1886del (p.Pro629GlnfsTer?)
c.4328del (p.Pro1443GlnfsTer?)
c.4319del (p.Pro1440GlnfsTer?)
c.4310del (p.Pro1437GlnfsTer?)
c.2648del (p.Pro883GlnfsTer?)
ClinVar
Xg.108686127C>ACA413853836COL4A5c.4313C>A (p.Pro1438Gln)
c.4295C>A (p.Pro1432Gln)
n.807C>A
n.716C>A
c.109C>A
c.4304C>A (p.Pro1435Gln)
c.3989C>A (p.Pro1330Gln)
c.1886C>A (p.Pro629Gln)
c.4328C>A (p.Pro1443Gln)
c.4319C>A (p.Pro1440Gln)
c.4310C>A (p.Pro1437Gln)
c.2648C>A (p.Pro883Gln)
gnomAD v4
Xg.108686127C>GCA413853837COL4A5c.4313C>G (p.Pro1438Arg)
c.4295C>G (p.Pro1432Arg)
n.807C>G
n.716C>G
c.109C>G
c.4304C>G (p.Pro1435Arg)
c.3989C>G (p.Pro1330Arg)
c.1886C>G (p.Pro629Arg)
c.4328C>G (p.Pro1443Arg)
c.4319C>G (p.Pro1440Arg)
c.4310C>G (p.Pro1437Arg)
c.2648C>G (p.Pro883Arg)
Xg.108686127C>TCA413853840COL4A5c.4313C>T (p.Pro1438Leu)
c.4295C>T (p.Pro1432Leu)
n.807C>T
n.716C>T
c.109C>T
c.4304C>T (p.Pro1435Leu)
c.3989C>T (p.Pro1330Leu)
c.1886C>T (p.Pro629Leu)
c.4328C>T (p.Pro1443Leu)
c.4319C>T (p.Pro1440Leu)
c.4310C>T (p.Pro1437Leu)
c.2648C>T (p.Pro883Leu)
Xg.108686128A>CCA517924222COL4A5c.4314A>C (p.Pro1438=)
c.4296A>C (p.Pro1432=)
n.808A>C
n.717A>C
c.110A>C
c.4305A>C (p.Pro1435=)
c.3990A>C (p.Pro1330=)
c.1887A>C (p.Pro629=)
c.4329A>C (p.Pro1443=)
c.4320A>C (p.Pro1440=)
c.4311A>C (p.Pro1437=)
c.2649A>C (p.Pro883=)
Xg.108686128A>GCA517924224COL4A5c.4314A>G (p.Pro1438=)
c.4296A>G (p.Pro1432=)
n.808A>G
n.717A>G
c.110A>G
c.4305A>G (p.Pro1435=)
c.3990A>G (p.Pro1330=)
c.1887A>G (p.Pro629=)
c.4329A>G (p.Pro1443=)
c.4320A>G (p.Pro1440=)
c.4311A>G (p.Pro1437=)
c.2649A>G (p.Pro883=)
Xg.108686128A>TCA517924226COL4A5c.4314A>T (p.Pro1438=)
c.4296A>T (p.Pro1432=)
n.808A>T
n.717A>T
c.110A>T
c.4305A>T (p.Pro1435=)
c.3990A>T (p.Pro1330=)
c.1887A>T (p.Pro629=)
c.4329A>T (p.Pro1443=)
c.4320A>T (p.Pro1440=)
c.4311A>T (p.Pro1437=)
c.2649A>T (p.Pro883=)
Xg.108686129G>ACA413853846COL4A5c.4315G>A (p.Gly1439Ser)
c.4297G>A (p.Gly1433Ser)
n.809G>A
n.718G>A
c.111G>A
c.4306G>A (p.Gly1436Ser)
c.3991G>A (p.Gly1331Ser)
c.1888G>A (p.Gly630Ser)
c.4330G>A (p.Gly1444Ser)
c.4321G>A (p.Gly1441Ser)
c.4312G>A (p.Gly1438Ser)
c.2650G>A (p.Gly884Ser)
Xg.108686129G>CCA413853844COL4A5c.4315G>C (p.Gly1439Arg)
c.4297G>C (p.Gly1433Arg)
n.809G>C
n.718G>C
c.111G>C
c.4306G>C (p.Gly1436Arg)
c.3991G>C (p.Gly1331Arg)
c.1888G>C (p.Gly630Arg)
c.4330G>C (p.Gly1444Arg)
c.4321G>C (p.Gly1441Arg)
c.4312G>C (p.Gly1438Arg)
c.2650G>C (p.Gly884Arg)
ClinVar dbSNP
Xg.108686129G=CA2450718789COL4A5c.4315G= (p.Gly1439=)
c.4297G= (p.Gly1433=)
n.809G=
n.718G=
c.111G=
c.4306G= (p.Gly1436=)
c.3991G= (p.Gly1331=)
c.1888G= (p.Gly630=)
c.4330G= (p.Gly1444=)
c.4321G= (p.Gly1441=)
c.4312G= (p.Gly1438=)
c.2650G= (p.Gly884=)
Xg.108686129G>TCA413853842COL4A5c.4315G>T (p.Gly1439Cys)
c.4297G>T (p.Gly1433Cys)
n.809G>T
n.718G>T
c.111G>T
c.4306G>T (p.Gly1436Cys)
c.3991G>T (p.Gly1331Cys)
c.1888G>T (p.Gly630Cys)
c.4330G>T (p.Gly1444Cys)
c.4321G>T (p.Gly1441Cys)
c.4312G>T (p.Gly1438Cys)
c.2650G>T (p.Gly884Cys)
Xg.108686130G>ACA259021COL4A5c.4315+1G>A (n.4315+1G>A)
c.4297+1G>A (n.4297+1G>A)
n.809+1G>A
n.718+1G>A
c.111+1G>A
c.4306+1G>A (n.4306+1G>A)
c.3991+1G>A (n.3991+1G>A)
c.1888+1G>A (n.1888+1G>A)
c.4330+1G>A (n.4330+1G>A)
c.4321+1G>A (n.4321+1G>A)
c.4312+1G>A (n.4312+1G>A)
c.2650+1G>A (n.2650+1G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686130G>CCA413853849COL4A5c.4315+1G>C (n.4315+1G>C)
c.4297+1G>C (n.4297+1G>C)
n.809+1G>C
n.718+1G>C
c.111+1G>C
c.4306+1G>C (n.4306+1G>C)
c.3991+1G>C (n.3991+1G>C)
c.1888+1G>C (n.1888+1G>C)
c.4330+1G>C (n.4330+1G>C)
c.4321+1G>C (n.4321+1G>C)
c.4312+1G>C (n.4312+1G>C)
c.2650+1G>C (n.2650+1G>C)
ClinVar dbSNP
Xg.108686130G=CA2450718790COL4A5c.4315+1G= (n.4315+1G=)
c.4297+1G= (n.4297+1G=)
n.809+1G=
n.718+1G=
c.111+1G=
c.4306+1G= (n.4306+1G=)
c.3991+1G= (n.3991+1G=)
c.1888+1G= (n.1888+1G=)
c.4330+1G= (n.4330+1G=)
c.4321+1G= (n.4321+1G=)
c.4312+1G= (n.4312+1G=)
c.2650+1G= (n.2650+1G=)
Xg.108686130G>TCA413853851COL4A5c.4315+1G>T (n.4315+1G>T)
c.4297+1G>T (n.4297+1G>T)
n.809+1G>T
n.718+1G>T
c.111+1G>T
c.4306+1G>T (n.4306+1G>T)
c.3991+1G>T (n.3991+1G>T)
c.1888+1G>T (n.1888+1G>T)
c.4330+1G>T (n.4330+1G>T)
c.4321+1G>T (n.4321+1G>T)
c.4312+1G>T (n.4312+1G>T)
c.2650+1G>T (n.2650+1G>T)
Xg.108686131T>ACA413853853COL4A5c.4315+2T>A (n.4315+2T>A)
c.4297+2T>A (n.4297+2T>A)
n.809+2T>A
n.718+2T>A
c.111+2T>A
c.4306+2T>A (n.4306+2T>A)
c.3991+2T>A (n.3991+2T>A)
c.1888+2T>A (n.1888+2T>A)
c.4330+2T>A (n.4330+2T>A)
c.4321+2T>A (n.4321+2T>A)
c.4312+2T>A (n.4312+2T>A)
c.2650+2T>A (n.2650+2T>A)
ClinVar dbSNP
Xg.108686131T>CCA413853855COL4A5c.4315+2T>C (n.4315+2T>C)
c.4297+2T>C (n.4297+2T>C)
n.809+2T>C
n.718+2T>C
c.111+2T>C
c.4306+2T>C (n.4306+2T>C)
c.3991+2T>C (n.3991+2T>C)
c.1888+2T>C (n.1888+2T>C)
c.4330+2T>C (n.4330+2T>C)
c.4321+2T>C (n.4321+2T>C)
c.4312+2T>C (n.4312+2T>C)
c.2650+2T>C (n.2650+2T>C)
Xg.108686131T>GCA413853858COL4A5c.4315+2T>G (n.4315+2T>G)
c.4297+2T>G (n.4297+2T>G)
n.809+2T>G
n.718+2T>G
c.111+2T>G
c.4306+2T>G (n.4306+2T>G)
c.3991+2T>G (n.3991+2T>G)
c.1888+2T>G (n.1888+2T>G)
c.4330+2T>G (n.4330+2T>G)
c.4321+2T>G (n.4321+2T>G)
c.4312+2T>G (n.4312+2T>G)
c.2650+2T>G (n.2650+2T>G)
Xg.108686132A>GCA2530250568COL4A5c.4315+3A>G (n.4315+3A>G)
c.4297+3A>G (n.4297+3A>G)
n.809+3A>G
n.718+3A>G
c.111+3A>G
c.4306+3A>G (n.4306+3A>G)
c.3991+3A>G (n.3991+3A>G)
c.1888+3A>G (n.1888+3A>G)
c.4330+3A>G (n.4330+3A>G)
c.4321+3A>G (n.4321+3A>G)
c.4312+3A>G (n.4312+3A>G)
c.2650+3A>G (n.2650+3A>G)
Xg.108686133A>GCA2694414719COL4A5c.4315+4A>G (n.4315+4A>G)
c.4297+4A>G (n.4297+4A>G)
n.809+4A>G
n.718+4A>G
c.111+4A>G
c.4306+4A>G (n.4306+4A>G)
c.3991+4A>G (n.3991+4A>G)
c.1888+4A>G (n.1888+4A>G)
c.4330+4A>G (n.4330+4A>G)
c.4321+4A>G (n.4321+4A>G)
c.4312+4A>G (n.4312+4A>G)
c.2650+4A>G (n.2650+4A>G)
gnomAD v4
Xg.108686136C>ACA2694414720COL4A5c.4315+7C>A (n.4315+7C>A)
c.4297+7C>A (n.4297+7C>A)
n.809+7C>A
n.718+7C>A
c.111+7C>A
c.4306+7C>A (n.4306+7C>A)
c.3991+7C>A (n.3991+7C>A)
c.1888+7C>A (n.1888+7C>A)
c.4330+7C>A (n.4330+7C>A)
c.4321+7C>A (n.4321+7C>A)
c.4312+7C>A (n.4312+7C>A)
c.2650+7C>A (n.2650+7C>A)
gnomAD v4
Xg.108686136C=CA2450718791COL4A5c.4315+7C= (n.4315+7C=)
c.4297+7C= (n.4297+7C=)
n.809+7C=
n.718+7C=
c.111+7C=
c.4306+7C= (n.4306+7C=)
c.3991+7C= (n.3991+7C=)
c.1888+7C= (n.1888+7C=)
c.4330+7C= (n.4330+7C=)
c.4321+7C= (n.4321+7C=)
c.4312+7C= (n.4312+7C=)
c.2650+7C= (n.2650+7C=)
Xg.108686136C>TCA643637128COL4A5c.4315+7C>T (n.4315+7C>T)
c.4297+7C>T (n.4297+7C>T)
n.809+7C>T
n.718+7C>T
c.111+7C>T
c.4306+7C>T (n.4306+7C>T)
c.3991+7C>T (n.3991+7C>T)
c.1888+7C>T (n.1888+7C>T)
c.4330+7C>T (n.4330+7C>T)
c.4321+7C>T (n.4321+7C>T)
c.4312+7C>T (n.4312+7C>T)
c.2650+7C>T (n.2650+7C>T)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108686137A=CA2450718792COL4A5c.4315+8A= (n.4315+8A=)
c.4297+8A= (n.4297+8A=)
n.809+8A=
n.718+8A=
c.111+8A=
c.4306+8A= (n.4306+8A=)
c.3991+8A= (n.3991+8A=)
c.1888+8A= (n.1888+8A=)
c.4330+8A= (n.4330+8A=)
c.4321+8A= (n.4321+8A=)
c.4312+8A= (n.4312+8A=)
c.2650+8A= (n.2650+8A=)
Xg.108686137A>CCA643637129COL4A5c.4315+8A>C (n.4315+8A>C)
c.4297+8A>C (n.4297+8A>C)
n.809+8A>C
n.718+8A>C
c.111+8A>C
c.4306+8A>C (n.4306+8A>C)
c.3991+8A>C (n.3991+8A>C)
c.1888+8A>C (n.1888+8A>C)
c.4330+8A>C (n.4330+8A>C)
c.4321+8A>C (n.4321+8A>C)
c.4312+8A>C (n.4312+8A>C)
c.2650+8A>C (n.2650+8A>C)
dbSNP gnomAD v2 gnomAD v4
Xg.108686138A=CA2450718793COL4A5c.4315+9A= (n.4315+9A=)
c.4297+9A= (n.4297+9A=)
n.809+9A=
n.718+9A=
c.111+9A=
c.4306+9A= (n.4306+9A=)
c.3991+9A= (n.3991+9A=)
c.1888+9A= (n.1888+9A=)
c.4330+9A= (n.4330+9A=)
c.4321+9A= (n.4321+9A=)
c.4312+9A= (n.4312+9A=)
c.2650+9A= (n.2650+9A=)
Xg.108686138A>TCA10489336COL4A5c.4315+9A>T (n.4315+9A>T)
c.4297+9A>T (n.4297+9A>T)
n.809+9A>T
n.718+9A>T
c.111+9A>T
c.4306+9A>T (n.4306+9A>T)
c.3991+9A>T (n.3991+9A>T)
c.1888+9A>T (n.1888+9A>T)
c.4330+9A>T (n.4330+9A>T)
c.4321+9A>T (n.4321+9A>T)
c.4312+9A>T (n.4312+9A>T)
c.2650+9A>T (n.2650+9A>T)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108686141A>TCA2579677126COL4A5c.4315+12A>T (n.4315+12A>T)
c.4297+12A>T (n.4297+12A>T)
n.809+12A>T
n.718+12A>T
c.111+12A>T
c.4306+12A>T (n.4306+12A>T)
c.3991+12A>T (n.3991+12A>T)
c.1888+12A>T (n.1888+12A>T)
c.4330+12A>T (n.4330+12A>T)
c.4321+12A>T (n.4321+12A>T)
c.4312+12A>T (n.4312+12A>T)
c.2650+12A>T (n.2650+12A>T)
Xg.108686144A=CA2450718794COL4A5c.4315+15A= (n.4315+15A=)
c.4297+15A= (n.4297+15A=)
n.809+15A=
n.718+15A=
c.111+15A=
c.4306+15A= (n.4306+15A=)
c.3991+15A= (n.3991+15A=)
c.1888+15A= (n.1888+15A=)
c.4330+15A= (n.4330+15A=)
c.4321+15A= (n.4321+15A=)
c.4312+15A= (n.4312+15A=)
c.2650+15A= (n.2650+15A=)
Xg.108686144A>GCA1136194915COL4A5c.4315+15A>G (n.4315+15A>G)
c.4297+15A>G (n.4297+15A>G)
n.809+15A>G
n.718+15A>G
c.111+15A>G
c.4306+15A>G (n.4306+15A>G)
c.3991+15A>G (n.3991+15A>G)
c.1888+15A>G (n.1888+15A>G)
c.4330+15A>G (n.4330+15A>G)
c.4321+15A>G (n.4321+15A>G)
c.4312+15A>G (n.4312+15A>G)
c.2650+15A>G (n.2650+15A>G)
dbSNP gnomAD v3 gnomAD v4
Xg.108686145C>ACA2694414721COL4A5c.4315+16C>A (n.4315+16C>A)
c.4297+16C>A (n.4297+16C>A)
n.809+16C>A
n.718+16C>A
c.111+16C>A
c.4306+16C>A (n.4306+16C>A)
c.3991+16C>A (n.3991+16C>A)
c.1888+16C>A (n.1888+16C>A)
c.4330+16C>A (n.4330+16C>A)
c.4321+16C>A (n.4321+16C>A)
c.4312+16C>A (n.4312+16C>A)
c.2650+16C>A (n.2650+16C>A)
gnomAD v4
Xg.108686148G>ACA2694414722COL4A5c.4315+19G>A (n.4315+19G>A)
c.4297+19G>A (n.4297+19G>A)
n.809+19G>A
n.718+19G>A
c.111+19G>A
c.4306+19G>A (n.4306+19G>A)
c.3991+19G>A (n.3991+19G>A)
c.1888+19G>A (n.1888+19G>A)
c.4330+19G>A (n.4330+19G>A)
c.4321+19G>A (n.4321+19G>A)
c.4312+19G>A (n.4312+19G>A)
c.2650+19G>A (n.2650+19G>A)
gnomAD v4
Xg.108686148G=CA2450718795COL4A5c.4315+19G= (n.4315+19G=)
c.4297+19G= (n.4297+19G=)
n.809+19G=
n.718+19G=
c.111+19G=
c.4306+19G= (n.4306+19G=)
c.3991+19G= (n.3991+19G=)
c.1888+19G= (n.1888+19G=)
c.4330+19G= (n.4330+19G=)
c.4321+19G= (n.4321+19G=)
c.4312+19G= (n.4312+19G=)
c.2650+19G= (n.2650+19G=)
Xg.108686148G>TCA643637130COL4A5c.4315+19G>T (n.4315+19G>T)
c.4297+19G>T (n.4297+19G>T)
n.809+19G>T
n.718+19G>T
c.111+19G>T
c.4306+19G>T (n.4306+19G>T)
c.3991+19G>T (n.3991+19G>T)
c.1888+19G>T (n.1888+19G>T)
c.4330+19G>T (n.4330+19G>T)
c.4321+19G>T (n.4321+19G>T)
c.4312+19G>T (n.4312+19G>T)
c.2650+19G>T (n.2650+19G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched