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.108578324C>ACA413924206COL4A5c.721C>A (p.Pro241Thr)
c.397C>A (p.Pro133Thr)
c.736C>A (p.Pro246Thr)
Xg.108578324C>GCA413924212COL4A5c.721C>G (p.Pro241Ala)
c.397C>G (p.Pro133Ala)
c.736C>G (p.Pro246Ala)
Xg.108578324C>TCA413924203COL4A5c.721C>T (p.Pro241Ser)
c.397C>T (p.Pro133Ser)
c.736C>T (p.Pro246Ser)
Xg.108578325C>ACA334180269COL4A5c.722C>A (p.Pro241His)
c.398C>A (p.Pro133His)
c.737C>A (p.Pro246His)
 dbSNP
Xg.108578325C=CA2450682325COL4A5c.722C= (p.Pro241=)
c.398C= (p.Pro133=)
c.737C= (p.Pro246=)
Xg.108578325C>GCA413924218COL4A5c.722C>G (p.Pro241Arg)
c.398C>G (p.Pro133Arg)
c.737C>G (p.Pro246Arg)
Xg.108578325C>TCA413924220COL4A5c.722C>T (p.Pro241Leu)
c.398C>T (p.Pro133Leu)
c.737C>T (p.Pro246Leu)
Xg.108578326T>ACA517991796COL4A5c.723T>A (p.Pro241=)
c.399T>A (p.Pro133=)
c.738T>A (p.Pro246=)
Xg.108578326T>CCA517991797COL4A5c.723T>C (p.Pro241=)
c.399T>C (p.Pro133=)
c.738T>C (p.Pro246=)
 gnomAD v4
Xg.108578326T>GCA517991798COL4A5c.723T>G (p.Pro241=)
c.399T>G (p.Pro133=)
c.738T>G (p.Pro246=)
Xg.108578327G>ACA413924224COL4A5c.724G>A (p.Gly242Arg)
c.400G>A (p.Gly134Arg)
c.739G>A (p.Gly247Arg)
Xg.108578327G>CCA413924226COL4A5c.724G>C (p.Gly242Arg)
c.400G>C (p.Gly134Arg)
c.739G>C (p.Gly247Arg)
Xg.108578327G>TCA413924227COL4A5c.724G>T (p.Gly242Trp)
c.400G>T (p.Gly134Trp)
c.739G>T (p.Gly247Trp)
Xg.108578328G>ACA413924229COL4A5c.725G>A (p.Gly242Glu)
c.401G>A (p.Gly134Glu)
c.740G>A (p.Gly247Glu)
Xg.108578328G>CCA413924232COL4A5c.725G>C (p.Gly242Ala)
c.401G>C (p.Gly134Ala)
c.740G>C (p.Gly247Ala)
Xg.108578328G>TCA413924234COL4A5c.725G>T (p.Gly242Val)
c.401G>T (p.Gly134Val)
c.740G>T (p.Gly247Val)
Xg.108578329G>ACA10488552COL4A5c.726G>A (p.Gly242=)
c.402G>A (p.Gly134=)
c.741G>A (p.Gly247=)
 dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108578329G>CCA517991799COL4A5c.726G>C (p.Gly242=)
c.402G>C (p.Gly134=)
c.741G>C (p.Gly247=)
Xg.108578329G=CA2450682326COL4A5c.726G= (p.Gly242=)
c.402G= (p.Gly134=)
c.741G= (p.Gly247=)
Xg.108578329G>TCA517991800COL4A5c.726G>T (p.Gly242=)
c.402G>T (p.Gly134=)
c.741G>T (p.Gly247=)
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

Number of alleles fetched