Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108591127G>ACA413932564COL4A5c.1235G>A (p.Gly412Glu)
n.691G>A
c.911G>A (p.Gly304Glu)
c.1250G>A (p.Gly417Glu)
c.-475G>A (n.-475G>A)
ClinVar dbSNP gnomAD v4
Xg.108591127G>CCA413932560COL4A5c.1235G>C (p.Gly412Ala)
n.691G>C
c.911G>C (p.Gly304Ala)
c.1250G>C (p.Gly417Ala)
c.-475G>C (n.-475G>C)
Xg.108591127G=CA2450686412COL4A5c.1235G= (p.Gly412=)
n.691G=
c.911G= (p.Gly304=)
c.1250G= (p.Gly417=)
c.-475G= (n.-475G=)
Xg.108591127G>TCA258439COL4A5c.1235G>T (p.Gly412Val)
n.691G>T
c.911G>T (p.Gly304Val)
c.1250G>T (p.Gly417Val)
c.-475G>T (n.-475G>T)
dbSNP
Xg.108591128A=CA2450686413COL4A5c.1236A= (p.Gly412=)
n.692A=
c.912A= (p.Gly304=)
c.1251A= (p.Gly417=)
c.-474A= (n.-474A=)
Xg.108591128A>CCA517992181COL4A5c.1236A>C (p.Gly412=)
n.692A>C
c.912A>C (p.Gly304=)
c.1251A>C (p.Gly417=)
c.-474A>C (n.-474A>C)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108591128A>GCA517992182COL4A5c.1236A>G (p.Gly412=)
n.692A>G
c.912A>G (p.Gly304=)
c.1251A>G (p.Gly417=)
c.-474A>G (n.-474A>G)
Xg.108591128A>TCA517992183COL4A5c.1236A>T (p.Gly412=)
n.692A>T
c.912A>T (p.Gly304=)
c.1251A>T (p.Gly417=)
c.-474A>T (n.-474A>T)
Xg.108591129C>ACA413932566COL4A5c.1237C>A (p.Pro413Thr)
n.693C>A
c.913C>A (p.Pro305Thr)
c.1252C>A (p.Pro418Thr)
c.-473C>A (n.-473C>A)
Xg.108591129C>GCA413932569COL4A5c.1237C>G (p.Pro413Ala)
n.693C>G
c.913C>G (p.Pro305Ala)
c.1252C>G (p.Pro418Ala)
c.-473C>G (n.-473C>G)
Xg.108591129C>TCA413932570COL4A5c.1237C>T (p.Pro413Ser)
n.693C>T
c.913C>T (p.Pro305Ser)
c.1252C>T (p.Pro418Ser)
c.-473C>T (n.-473C>T)
Xg.108591130C>ACA413932573COL4A5c.1238C>A (p.Pro413Gln)
n.694C>A
c.914C>A (p.Pro305Gln)
c.1253C>A (p.Pro418Gln)
c.-472C>A (n.-472C>A)
Xg.108591130C>GCA413932575COL4A5c.1238C>G (p.Pro413Arg)
n.694C>G
c.914C>G (p.Pro305Arg)
c.1253C>G (p.Pro418Arg)
c.-472C>G (n.-472C>G)
Xg.108591130C>TCA413932578COL4A5c.1238C>T (p.Pro413Leu)
n.694C>T
c.914C>T (p.Pro305Leu)
c.1253C>T (p.Pro418Leu)
c.-472C>T (n.-472C>T)
Xg.108591131A>CCA517992184COL4A5c.1239A>C (p.Pro413=)
n.695A>C
c.915A>C (p.Pro305=)
c.1254A>C (p.Pro418=)
c.-471A>C (n.-471A>C)
Xg.108591131A>GCA517992186COL4A5c.1239A>G (p.Pro413=)
n.695A>G
c.915A>G (p.Pro305=)
c.1254A>G (p.Pro418=)
c.-471A>G (n.-471A>G)
gnomAD v4
Xg.108591131A>TCA517992185COL4A5c.1239A>T (p.Pro413=)
n.695A>T
c.915A>T (p.Pro305=)
c.1254A>T (p.Pro418=)
c.-471A>T (n.-471A>T)
Xg.108591131_108591155delinsACCTGGAATTTCCATTCCTGGACCTCA2450686414COL4A5c.1239_1263delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro413=)
n.695_719delinsACCTGGAATTTCCATTCCTGGACCT
c.915_939delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro305=)
c.1254_1278delinsACCTGGAATTTCCATTCCTGGACCT (p.Pro418=)
c.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT (n.-471_-447delinsACCTGGAATTTCCATTCCTGGACCT)
Xg.108591132C>ACA413932581COL4A5c.1240C>A (p.Pro414Thr)
n.696C>A
c.916C>A (p.Pro306Thr)
c.1255C>A (p.Pro419Thr)
c.-470C>A (n.-470C>A)
Xg.108591132C>GCA413932583COL4A5c.1240C>G (p.Pro414Ala)
n.696C>G
c.916C>G (p.Pro306Ala)
c.1255C>G (p.Pro419Ala)
c.-470C>G (n.-470C>G)
gnomAD v4
Xg.108591132C>TCA413932584COL4A5c.1240C>T (p.Pro414Ser)
n.696C>T
c.916C>T (p.Pro306Ser)
c.1255C>T (p.Pro419Ser)
c.-470C>T (n.-470C>T)
Xg.108591138_108591161delCA891843923COL4A5c.1246_1269del (p.Ile416_Gly423del)
n.702_725del
c.922_945del (p.Ile308_Gly315del)
c.1261_1284del (p.Ile421_Gly428del)
c.-464_-441del (n.-464_-441del)
Xg.108591133C>ACA413932587COL4A5c.1241C>A (p.Pro414His)
n.697C>A
c.917C>A (p.Pro306His)
c.1256C>A (p.Pro419His)
c.-469C>A (n.-469C>A)
Xg.108591133C>GCA413932589COL4A5c.1241C>G (p.Pro414Arg)
n.697C>G
c.917C>G (p.Pro306Arg)
c.1256C>G (p.Pro419Arg)
c.-469C>G (n.-469C>G)
Xg.108591133C>TCA413932597COL4A5c.1241C>T (p.Pro414Leu)
n.697C>T
c.917C>T (p.Pro306Leu)
c.1256C>T (p.Pro419Leu)
c.-469C>T (n.-469C>T)
Xg.108591134T>ACA517992187COL4A5c.1242T>A (p.Pro414=)
n.698T>A
c.918T>A (p.Pro306=)
c.1257T>A (p.Pro419=)
c.-468T>A (n.-468T>A)
Xg.108591134T>CCA517992188COL4A5c.1242T>C (p.Pro414=)
n.698T>C
c.918T>C (p.Pro306=)
c.1257T>C (p.Pro419=)
c.-468T>C (n.-468T>C)
COSMIC COSMIC
Xg.108591134T>GCA517992189COL4A5c.1242T>G (p.Pro414=)
n.698T>G
c.918T>G (p.Pro306=)
c.1257T>G (p.Pro419=)
c.-468T>G (n.-468T>G)
gnomAD v4
Xg.108591135G>ACA258441COL4A5c.1243G>A (p.Gly415Arg)
n.699G>A
c.919G>A (p.Gly307Arg)
c.1258G>A (p.Gly420Arg)
c.-467G>A (n.-467G>A)
dbSNP
Xg.108591135G>CCA413932605COL4A5c.1243G>C (p.Gly415Arg)
n.699G>C
c.919G>C (p.Gly307Arg)
c.1258G>C (p.Gly420Arg)
c.-467G>C (n.-467G>C)
Xg.108591135G=CA2450686415COL4A5c.1243G= (p.Gly415=)
n.699G=
c.919G= (p.Gly307=)
c.1258G= (p.Gly420=)
c.-467G= (n.-467G=)
Xg.108591135G>TCA413932603COL4A5c.1243G>T (p.Gly415Ter)
n.699G>T
c.919G>T (p.Gly307Ter)
c.1258G>T (p.Gly420Ter)
c.-467G>T (n.-467G>T)
Xg.108591136G>ACA413932611COL4A5c.1244G>A (p.Gly415Glu)
n.700G>A
c.920G>A (p.Gly307Glu)
c.1259G>A (p.Gly420Glu)
c.-466G>A (n.-466G>A)
Xg.108591136G>CCA413932613COL4A5c.1244G>C (p.Gly415Ala)
n.700G>C
c.920G>C (p.Gly307Ala)
c.1259G>C (p.Gly420Ala)
c.-466G>C (n.-466G>C)
Xg.108591136G>TCA413932612COL4A5c.1244G>T (p.Gly415Val)
n.700G>T
c.920G>T (p.Gly307Val)
c.1259G>T (p.Gly420Val)
c.-466G>T (n.-466G>T)
COSMIC COSMIC
Xg.108591137A>CCA517992190COL4A5c.1245A>C (p.Gly415=)
n.701A>C
c.921A>C (p.Gly307=)
c.1260A>C (p.Gly420=)
c.-465A>C (n.-465A>C)
Xg.108591137A>GCA517992191COL4A5c.1245A>G (p.Gly415=)
n.701A>G
c.921A>G (p.Gly307=)
c.1260A>G (p.Gly420=)
c.-465A>G (n.-465A>G)
Xg.108591137A>TCA517992192COL4A5c.1245A>T (p.Gly415=)
n.701A>T
c.921A>T (p.Gly307=)
c.1260A>T (p.Gly420=)
c.-465A>T (n.-465A>T)
Xg.108591138A=CA2450686416COL4A5c.1246A= (p.Ile416=)
n.702A=
c.922A= (p.Ile308=)
c.1261A= (p.Ile421=)
c.-464A= (n.-464A=)
Xg.108591138A>CCA413932614COL4A5c.1246A>C (p.Ile416Leu)
n.702A>C
c.922A>C (p.Ile308Leu)
c.1261A>C (p.Ile421Leu)
c.-464A>C (n.-464A>C)
Xg.108591138A>GCA413932615COL4A5c.1246A>G (p.Ile416Val)
n.702A>G
c.922A>G (p.Ile308Val)
c.1261A>G (p.Ile421Val)
c.-464A>G (n.-464A>G)
dbSNP gnomAD v2 gnomAD v4
Xg.108591138A>TCA413932617COL4A5c.1246A>T (p.Ile416Phe)
n.702A>T
c.922A>T (p.Ile308Phe)
c.1261A>T (p.Ile421Phe)
c.-464A>T (n.-464A>T)
Xg.108591139T>ACA413932619COL4A5c.1247T>A (p.Ile416Asn)
n.703T>A
c.923T>A (p.Ile308Asn)
c.1262T>A (p.Ile421Asn)
c.-463T>A (n.-463T>A)
Xg.108591139T>CCA413932623COL4A5c.1247T>C (p.Ile416Thr)
n.703T>C
c.923T>C (p.Ile308Thr)
c.1262T>C (p.Ile421Thr)
c.-463T>C (n.-463T>C)
Xg.108591139T>GCA413932626COL4A5c.1247T>G (p.Ile416Ser)
n.703T>G
c.923T>G (p.Ile308Ser)
c.1262T>G (p.Ile421Ser)
c.-463T>G (n.-463T>G)
Xg.108591141_108591164dupCA2450686417COL4A5c.1249_1272dup (p.Leu424_Asp425insSerIleProGlyProProGlyLeu)
n.705_728dup
c.925_948dup (p.Leu316_Asp317insSerIleProGlyProProGlyLeu)
c.1264_1287dup (p.Leu429_Asp430insSerIleProGlyProProGlyLeu)
c.-461_-438dup (n.-461_-438dup)
ClinVar dbSNP
Xg.108591140T>ACA517992193COL4A5c.1248T>A (p.Ile416=)
n.704T>A
c.924T>A (p.Ile308=)
c.1263T>A (p.Ile421=)
c.-462T>A (n.-462T>A)
Xg.108591140T>CCA517992194COL4A5c.1248T>C (p.Ile416=)
n.704T>C
c.924T>C (p.Ile308=)
c.1263T>C (p.Ile421=)
c.-462T>C (n.-462T>C)
Xg.108591140T>GCA413932627COL4A5c.1248T>G (p.Ile416Met)
n.704T>G
c.924T>G (p.Ile308Met)
c.1263T>G (p.Ile421Met)
c.-462T>G (n.-462T>G)
Xg.108591141T>ACA413932631COL4A5c.1249T>A (p.Ser417Thr)
n.705T>A
c.925T>A (p.Ser309Thr)
c.1264T>A (p.Ser422Thr)
c.-461T>A (n.-461T>A)

Number of alleles fetched