Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580995A>CCA413926806COL4A5c.904A>C (p.Lys302Gln)
c.580A>C (p.Lys194Gln)
c.919A>C (p.Lys307Gln)
Xg.108580995A>GCA413926808COL4A5c.904A>G (p.Lys302Glu)
c.580A>G (p.Lys194Glu)
c.919A>G (p.Lys307Glu)
Xg.108580995A>TCA413926803COL4A5c.904A>T (p.Lys302Ter)
c.580A>T (p.Lys194Ter)
c.919A>T (p.Lys307Ter)
Xg.108580996A>CCA413926812COL4A5c.905A>C (p.Lys302Thr)
c.581A>C (p.Lys194Thr)
c.920A>C (p.Lys307Thr)
Xg.108580996A>GCA413926817COL4A5c.905A>G (p.Lys302Arg)
c.581A>G (p.Lys194Arg)
c.920A>G (p.Lys307Arg)
Xg.108580996A>TCA413926819COL4A5c.905A>T (p.Lys302Ile)
c.581A>T (p.Lys194Ile)
c.920A>T (p.Lys307Ile)
Xg.108580997A>CCA413926822COL4A5c.906A>C (p.Lys302Asn)
c.582A>C (p.Lys194Asn)
c.921A>C (p.Lys307Asn)
Xg.108580997A>GCA517991926COL4A5c.906A>G (p.Lys302=)
c.582A>G (p.Lys194=)
c.921A>G (p.Lys307=)
Xg.108580997A>TCA413926824COL4A5c.906A>T (p.Lys302Asn)
c.582A>T (p.Lys194Asn)
c.921A>T (p.Lys307Asn)
Xg.108580998G>ACA413926830COL4A5c.907G>A (p.Asp303Asn)
c.583G>A (p.Asp195Asn)
c.922G>A (p.Asp308Asn)
Xg.108580998G>CCA10488618COL4A5c.907G>C (p.Asp303His)
c.583G>C (p.Asp195His)
c.922G>C (p.Asp308His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580998G=CA2450683192COL4A5c.907G= (p.Asp303=)
c.583G= (p.Asp195=)
c.922G= (p.Asp308=)
Xg.108580998G>TCA413926826COL4A5c.907G>T (p.Asp303Tyr)
c.583G>T (p.Asp195Tyr)
c.922G>T (p.Asp308Tyr)
Xg.108580999A>CCA413926842COL4A5c.908A>C (p.Asp303Ala)
c.584A>C (p.Asp195Ala)
c.923A>C (p.Asp308Ala)
Xg.108580999A>GCA413926851COL4A5c.908A>G (p.Asp303Gly)
c.584A>G (p.Asp195Gly)
c.923A>G (p.Asp308Gly)
 gnomAD v4
Xg.108580999A>TCA413926854COL4A5c.908A>T (p.Asp303Val)
c.584A>T (p.Asp195Val)
c.923A>T (p.Asp308Val)
 ClinVar
Xg.108581000T>ACA413926859COL4A5c.909T>A (p.Asp303Glu)
c.585T>A (p.Asp195Glu)
c.924T>A (p.Asp308Glu)
Xg.108581000T>CCA10488619COL4A5c.909T>C (p.Asp303=)
c.585T>C (p.Asp195=)
c.924T>C (p.Asp308=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108581000T>GCA413926862COL4A5c.909T>G (p.Asp303Glu)
c.585T>G (p.Asp195Glu)
c.924T>G (p.Asp308Glu)
Xg.108581000T=CA2450683193COL4A5c.909T= (p.Asp303=)
c.585T= (p.Asp195=)
c.924T= (p.Asp308=)
Xg.108581001G>ACA413926865COL4A5c.910G>A (p.Gly304Arg)
c.586G>A (p.Gly196Arg)
c.925G>A (p.Gly309Arg)
Xg.108581001G>CCA413926870COL4A5c.910G>C (p.Gly304Arg)
c.586G>C (p.Gly196Arg)
c.925G>C (p.Gly309Arg)
Xg.108581001G>TCA413926867COL4A5c.910G>T (p.Gly304Ter)
c.586G>T (p.Gly196Ter)
c.925G>T (p.Gly309Ter)
Xg.108581002G>ACA413926874COL4A5c.911G>A (p.Gly304Glu)
c.587G>A (p.Gly196Glu)
c.926G>A (p.Gly309Glu)
Xg.108581002G>CCA413926877COL4A5c.911G>C (p.Gly304Ala)
c.587G>C (p.Gly196Ala)
c.926G>C (p.Gly309Ala)
Xg.108581002G>TCA413926879COL4A5c.911G>T (p.Gly304Val)
c.587G>T (p.Gly196Val)
c.926G>T (p.Gly309Val)
Xg.108581003A>CCA517991927COL4A5c.912A>C (p.Gly304=)
c.588A>C (p.Gly196=)
c.927A>C (p.Gly309=)
Xg.108581003A>GCA517991928COL4A5c.912A>G (p.Gly304=)
c.588A>G (p.Gly196=)
c.927A>G (p.Gly309=)
Xg.108581003A>TCA517991929COL4A5c.912A>T (p.Gly304=)
c.588A>T (p.Gly196=)
c.927A>T (p.Gly309=)
Xg.108581004G>ACA413926887COL4A5c.913G>A (p.Glu305Lys)
c.589G>A (p.Glu197Lys)
c.928G>A (p.Glu310Lys)
Xg.108581004G>CCA413926894COL4A5c.913G>C (p.Glu305Gln)
c.589G>C (p.Glu197Gln)
c.928G>C (p.Glu310Gln)
Xg.108581004G=CA2450683194COL4A5c.913G= (p.Glu305=)
c.589G= (p.Glu197=)
c.928G= (p.Glu310=)
Xg.108581004G>TCA258353COL4A5c.913G>T (p.Glu305Ter)
c.589G>T (p.Glu197Ter)
c.928G>T (p.Glu310Ter)
 ClinVar dbSNP
Xg.108581004_108581005delinsGACA2450683195COL4A5c.913_914delinsGA (p.Glu305=)
c.589_590delinsGA (p.Glu197=)
c.928_929delinsGA (p.Glu310=)
Xg.108581005A>CCA413926897COL4A5c.914A>C (p.Glu305Ala)
c.590A>C (p.Glu197Ala)
c.929A>C (p.Glu310Ala)
Xg.108581005A>GCA413926899COL4A5c.914A>G (p.Glu305Gly)
c.590A>G (p.Glu197Gly)
c.929A>G (p.Glu310Gly)
Xg.108581005A>TCA413926900COL4A5c.914A>T (p.Glu305Val)
c.590A>T (p.Glu197Val)
c.929A>T (p.Glu310Val)
Xg.108581008delCA517991930COL4A5c.917del (p.Asn306MetfsTer?)
c.593del (p.Asn198MetfsTer?)
c.932del (p.Asn311MetfsTer?)
 ClinVar dbSNP COSMIC COSMIC
Xg.108581006A>CCA413926903COL4A5c.915A>C (p.Glu305Asp)
c.591A>C (p.Glu197Asp)
c.930A>C (p.Glu310Asp)
Xg.108581006A>GCA517991931COL4A5c.915A>G (p.Glu305=)
c.591A>G (p.Glu197=)
c.930A>G (p.Glu310=)
Xg.108581006A>TCA413926904COL4A5c.915A>T (p.Glu305Asp)
c.591A>T (p.Glu197Asp)
c.930A>T (p.Glu310Asp)
Xg.108581007A>CCA413926909COL4A5c.916A>C (p.Asn306His)
c.592A>C (p.Asn198His)
c.931A>C (p.Asn311His)
Xg.108581007A>GCA413926912COL4A5c.916A>G (p.Asn306Asp)
c.592A>G (p.Asn198Asp)
c.931A>G (p.Asn311Asp)
Xg.108581007A>TCA413926907COL4A5c.916A>T (p.Asn306Tyr)
c.592A>T (p.Asn198Tyr)
c.931A>T (p.Asn311Tyr)
Xg.108581008A>CCA413926929COL4A5c.917A>C (p.Asn306Thr)
c.593A>C (p.Asn198Thr)
c.932A>C (p.Asn311Thr)
Xg.108581008A>GCA413926923COL4A5c.917A>G (p.Asn306Ser)
c.593A>G (p.Asn198Ser)
c.932A>G (p.Asn311Ser)
Xg.108581008A>TCA413926926COL4A5c.917A>T (p.Asn306Ile)
c.593A>T (p.Asn198Ile)
c.932A>T (p.Asn311Ile)
Xg.108581009T>ACA413926943COL4A5c.918T>A (p.Asn306Lys)
c.594T>A (p.Asn198Lys)
c.933T>A (p.Asn311Lys)
Xg.108581009T>CCA517991932COL4A5c.918T>C (p.Asn306=)
c.594T>C (p.Asn198=)
c.933T>C (p.Asn311=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108581009T>GCA413926945COL4A5c.918T>G (p.Asn306Lys)
c.594T>G (p.Asn198Lys)
c.933T>G (p.Asn311Lys)

Number of alleles fetched