Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108578322_108578330dupCA2694412261COL4A5c.719_727dup (p.Gly242_Gln243insProProGly)
c.395_403dup (p.Gly134_Gln135insProProGly)
c.734_742dup (p.Gly247_Gln248insProProGly)
 gnomAD v4
Xg.108578322_108578330delCA2694412263COL4A5c.719_727del (p.Pro240_Gly242del)
c.395_403del (p.Pro132_Gly134del)
c.734_742del (p.Pro245_Gly247del)
 gnomAD v4
Xg.108578330C>ACA413924237COL4A5c.727C>A (p.Gln243Lys)
c.403C>A (p.Gln135Lys)
c.742C>A (p.Gln248Lys)
Xg.108578330C>GCA413924239COL4A5c.727C>G (p.Gln243Glu)
c.403C>G (p.Gln135Glu)
c.742C>G (p.Gln248Glu)
Xg.108578330C>TCA413924242COL4A5c.727C>T (p.Gln243Ter)
c.403C>T (p.Gln135Ter)
c.742C>T (p.Gln248Ter)
Xg.108578331A>CCA413924253COL4A5c.728A>C (p.Gln243Pro)
c.404A>C (p.Gln135Pro)
c.743A>C (p.Gln248Pro)
Xg.108578331A>GCA413924247COL4A5c.728A>G (p.Gln243Arg)
c.404A>G (p.Gln135Arg)
c.743A>G (p.Gln248Arg)
Xg.108578331A>TCA413924250COL4A5c.728A>T (p.Gln243Leu)
c.404A>T (p.Gln135Leu)
c.743A>T (p.Gln248Leu)
Xg.108578332G>ACA517991801COL4A5c.729G>A (p.Gln243=)
c.405G>A (p.Gln135=)
c.744G>A (p.Gln248=)
Xg.108578332G>CCA413924256COL4A5c.729G>C (p.Gln243His)
c.405G>C (p.Gln135His)
c.744G>C (p.Gln248His)
Xg.108578332G>TCA413924257COL4A5c.729G>T (p.Gln243His)
c.405G>T (p.Gln135His)
c.744G>T (p.Gln248His)
 COSMIC COSMIC
Xg.108578333A=CA2450682327COL4A5c.730A= (p.Ile244=)
c.406A= (p.Ile136=)
c.745A= (p.Ile249=)
Xg.108578333A>CCA413924258COL4A5c.730A>C (p.Ile244Leu)
c.406A>C (p.Ile136Leu)
c.745A>C (p.Ile249Leu)
 gnomAD v4
Xg.108578333A>GCA413924259COL4A5c.730A>G (p.Ile244Val)
c.406A>G (p.Ile136Val)
c.745A>G (p.Ile249Val)
Xg.108578333A>TCA10488553COL4A5c.730A>T (p.Ile244Phe)
c.406A>T (p.Ile136Phe)
c.745A>T (p.Ile249Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578334T>ACA413924260COL4A5c.731T>A (p.Ile244Asn)
c.407T>A (p.Ile136Asn)
c.746T>A (p.Ile249Asn)
Xg.108578334T>CCA413924262COL4A5c.731T>C (p.Ile244Thr)
c.407T>C (p.Ile136Thr)
c.746T>C (p.Ile249Thr)
Xg.108578334T>GCA413924264COL4A5c.731T>G (p.Ile244Ser)
c.407T>G (p.Ile136Ser)
c.746T>G (p.Ile249Ser)
Xg.108578335C>ACA517991802COL4A5c.732C>A (p.Ile244=)
c.408C>A (p.Ile136=)
c.747C>A (p.Ile249=)
 gnomAD v4
Xg.108578335C=CA2450682328COL4A5c.732C= (p.Ile244=)
c.408C= (p.Ile136=)
c.747C= (p.Ile249=)
Xg.108578335C>GCA413924265COL4A5c.732C>G (p.Ile244Met)
c.408C>G (p.Ile136Met)
c.747C>G (p.Ile249Met)
 dbSNP
Xg.108578335C>TCA517991803COL4A5c.732C>T (p.Ile244=)
c.408C>T (p.Ile136=)
c.747C>T (p.Ile249=)
 dbSNP gnomAD v2 gnomAD v4
Xg.108578336A>CCA413924268COL4A5c.733A>C (p.Ser245Arg)
c.409A>C (p.Ser137Arg)
c.748A>C (p.Ser250Arg)
Xg.108578336A>GCA413924270COL4A5c.733A>G (p.Ser245Gly)
c.409A>G (p.Ser137Gly)
c.748A>G (p.Ser250Gly)
Xg.108578336A>TCA413924273COL4A5c.733A>T (p.Ser245Cys)
c.409A>T (p.Ser137Cys)
c.748A>T (p.Ser250Cys)
Xg.108578337G>ACA413924276COL4A5c.734G>A (p.Ser245Asn)
c.410G>A (p.Ser137Asn)
c.749G>A (p.Ser250Asn)
 gnomAD v4
Xg.108578337G>CCA413924281COL4A5c.734G>C (p.Ser245Thr)
c.410G>C (p.Ser137Thr)
c.749G>C (p.Ser250Thr)
Xg.108578337G>TCA413924279COL4A5c.734G>T (p.Ser245Ile)
c.410G>T (p.Ser137Ile)
c.749G>T (p.Ser250Ile)
Xg.108578338T>ACA413924283COL4A5c.735T>A (p.Ser245Arg)
c.411T>A (p.Ser137Arg)
c.750T>A (p.Ser250Arg)
Xg.108578338T>CCA10488554COL4A5c.735T>C (p.Ser245=)
c.411T>C (p.Ser137=)
c.750T>C (p.Ser250=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578338T>GCA413924286COL4A5c.735T>G (p.Ser245Arg)
c.411T>G (p.Ser137Arg)
c.750T>G (p.Ser250Arg)
Xg.108578338T=CA2450682329COL4A5c.735T= (p.Ser245=)
c.411T= (p.Ser137=)
c.750T= (p.Ser250=)
Xg.108578339G>ACA413924291COL4A5c.736G>A (p.Glu246Lys)
c.412G>A (p.Glu138Lys)
c.751G>A (p.Glu251Lys)
Xg.108578339G>CCA413924300COL4A5c.736G>C (p.Glu246Gln)
c.412G>C (p.Glu138Gln)
c.751G>C (p.Glu251Gln)
Xg.108578339G>TCA413924306COL4A5c.736G>T (p.Glu246Ter)
c.412G>T (p.Glu138Ter)
c.751G>T (p.Glu251Ter)
Xg.108578341_108578350delCA2739289599COL4A5c.738_747del (p.Glu246AspfsTer5)
c.414_423del (p.Glu138AspfsTer5)
c.753_762del (p.Glu251AspfsTer5)
Xg.108578340A>CCA413924308COL4A5c.737A>C (p.Glu246Ala)
c.413A>C (p.Glu138Ala)
c.752A>C (p.Glu251Ala)
Xg.108578340A>GCA413924310COL4A5c.737A>G (p.Glu246Gly)
c.413A>G (p.Glu138Gly)
c.752A>G (p.Glu251Gly)
 COSMIC
Xg.108578340A>TCA413924318COL4A5c.737A>T (p.Glu246Val)
c.413A>T (p.Glu138Val)
c.752A>T (p.Glu251Val)
Xg.108578341A>CCA413924320COL4A5c.738A>C (p.Glu246Asp)
c.414A>C (p.Glu138Asp)
c.753A>C (p.Glu251Asp)
Xg.108578341A>GCA517991804COL4A5c.738A>G (p.Glu246=)
c.414A>G (p.Glu138=)
c.753A>G (p.Glu251=)
Xg.108578341A>TCA413924322COL4A5c.738A>T (p.Glu246Asp)
c.414A>T (p.Glu138Asp)
c.753A>T (p.Glu251Asp)
Xg.108578342C>ACA413924330COL4A5c.739C>A (p.Gln247Lys)
c.415C>A (p.Gln139Lys)
c.754C>A (p.Gln252Lys)
Xg.108578342C>GCA413924332COL4A5c.739C>G (p.Gln247Glu)
c.415C>G (p.Gln139Glu)
c.754C>G (p.Gln252Glu)
Xg.108578342C>TCA413924333COL4A5c.739C>T (p.Gln247Ter)
c.415C>T (p.Gln139Ter)
c.754C>T (p.Gln252Ter)
Xg.108578343A>CCA413924337COL4A5c.740A>C (p.Gln247Pro)
c.416A>C (p.Gln139Pro)
c.755A>C (p.Gln252Pro)
Xg.108578343A>GCA413924335COL4A5c.740A>G (p.Gln247Arg)
c.416A>G (p.Gln139Arg)
c.755A>G (p.Gln252Arg)
Xg.108578343A>TCA413924334COL4A5c.740A>T (p.Gln247Leu)
c.416A>T (p.Gln139Leu)
c.755A>T (p.Gln252Leu)
Xg.108578344G>ACA517991805COL4A5c.741G>A (p.Gln247=)
c.417G>A (p.Gln139=)
c.756G>A (p.Gln252=)
 ClinVar COSMIC COSMIC
Xg.108578344G>CCA413924338COL4A5c.741G>C (p.Gln247His)
c.417G>C (p.Gln139His)
c.756G>C (p.Gln252His)

Number of alleles fetched