Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108571420G>ACA10488449COL4A5c.392G>A (p.Arg131His)
c.68G>A (p.Arg23His)
c.407G>A (p.Arg136His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108571420G>CCA413919781COL4A5c.392G>C (p.Arg131Pro)
c.68G>C (p.Arg23Pro)
c.407G>C (p.Arg136Pro)
Xg.108571420G=CA2450680107COL4A5c.392G= (p.Arg131=)
c.68G= (p.Arg23=)
c.407G= (p.Arg136=)
Xg.108571420G>TCA413919782COL4A5c.392G>T (p.Arg131Leu)
c.68G>T (p.Arg23Leu)
c.407G>T (p.Arg136Leu)
 gnomAD v4
Xg.108571421T>ACA517991533COL4A5c.393T>A (p.Arg131=)
c.69T>A (p.Arg23=)
c.408T>A (p.Arg136=)
Xg.108571421T>CCA517991535COL4A5c.393T>C (p.Arg131=)
c.69T>C (p.Arg23=)
c.408T>C (p.Arg136=)
Xg.108571421T>GCA517991534COL4A5c.393T>G (p.Arg131=)
c.69T>G (p.Arg23=)
c.408T>G (p.Arg136=)
Xg.108571422G>ACA413919783COL4A5c.394G>A (p.Gly132Arg)
c.70G>A (p.Gly24Arg)
c.409G>A (p.Gly137Arg)
 ClinVar dbSNP
Xg.108571422G>CCA413919784COL4A5c.394G>C (p.Gly132Arg)
c.70G>C (p.Gly24Arg)
c.409G>C (p.Gly137Arg)
Xg.108571422G>TCA413919786COL4A5c.394G>T (p.Gly132Ter)
c.70G>T (p.Gly24Ter)
c.409G>T (p.Gly137Ter)
 COSMIC
Xg.108571422_108571423delCA2579675821COL4A5c.394_395del (p.Gly132IlefsTer25)
c.70_71del (p.Gly24IlefsTer25)
c.409_410del (p.Gly137IlefsTer25)
Xg.108571423G>ACA413919789COL4A5c.395G>A (p.Gly132Glu)
c.71G>A (p.Gly24Glu)
c.410G>A (p.Gly137Glu)
 ClinVar dbSNP
Xg.108571423G>CCA413919791COL4A5c.395G>C (p.Gly132Ala)
c.71G>C (p.Gly24Ala)
c.410G>C (p.Gly137Ala)
Xg.108571423G=CA2450680108COL4A5c.395G= (p.Gly132=)
c.71G= (p.Gly24=)
c.410G= (p.Gly137=)
Xg.108571423G>TCA413919796COL4A5c.395G>T (p.Gly132Val)
c.71G>T (p.Gly24Val)
c.410G>T (p.Gly137Val)
 COSMIC
Xg.108571424A>CCA517991536COL4A5c.396A>C (p.Gly132=)
c.72A>C (p.Gly24=)
c.411A>C (p.Gly137=)
Xg.108571424A>GCA517991537COL4A5c.396A>G (p.Gly132=)
c.72A>G (p.Gly24=)
c.411A>G (p.Gly137=)
Xg.108571424A>TCA517991538COL4A5c.396A>T (p.Gly132=)
c.72A>T (p.Gly24=)
c.411A>T (p.Gly137=)
Xg.108571425T>ACA413919802COL4A5c.397T>A (p.Phe133Ile)
c.73T>A (p.Phe25Ile)
c.412T>A (p.Phe138Ile)
 dbSNP
Xg.108571425T>CCA413919808COL4A5c.397T>C (p.Phe133Leu)
c.73T>C (p.Phe25Leu)
c.412T>C (p.Phe138Leu)
Xg.108571425T>GCA413919803COL4A5c.397T>G (p.Phe133Val)
c.73T>G (p.Phe25Val)
c.412T>G (p.Phe138Val)
Xg.108571425T=CA2450680109COL4A5c.397T= (p.Phe133=)
c.73T= (p.Phe25=)
c.412T= (p.Phe138=)
Xg.108571426T>ACA413919813COL4A5c.398T>A (p.Phe133Tyr)
c.74T>A (p.Phe25Tyr)
c.413T>A (p.Phe138Tyr)
 gnomAD v4
Xg.108571426T>CCA413919819COL4A5c.398T>C (p.Phe133Ser)
c.74T>C (p.Phe25Ser)
c.413T>C (p.Phe138Ser)
Xg.108571426T>GCA413919815COL4A5c.398T>G (p.Phe133Cys)
c.74T>G (p.Phe25Cys)
c.413T>G (p.Phe138Cys)
Xg.108571427T>ACA413919823COL4A5c.399T>A (p.Phe133Leu)
c.75T>A (p.Phe25Leu)
c.414T>A (p.Phe138Leu)
Xg.108571427T>CCA517991539COL4A5c.399T>C (p.Phe133=)
c.75T>C (p.Phe25=)
c.414T>C (p.Phe138=)
 gnomAD v4
Xg.108571427T>GCA413919828COL4A5c.399T>G (p.Phe133Leu)
c.75T>G (p.Phe25Leu)
c.414T>G (p.Phe138Leu)
Xg.108571428C>ACA413919831COL4A5c.400C>A (p.Pro134Thr)
c.76C>A (p.Pro26Thr)
c.415C>A (p.Pro139Thr)
 gnomAD v4
Xg.108571428C>GCA413919835COL4A5c.400C>G (p.Pro134Ala)
c.76C>G (p.Pro26Ala)
c.415C>G (p.Pro139Ala)
Xg.108571428C>TCA413919833COL4A5c.400C>T (p.Pro134Ser)
c.76C>T (p.Pro26Ser)
c.415C>T (p.Pro139Ser)
 COSMIC COSMIC
Xg.108571429delCA2579675822COL4A5c.401del (p.Pro134GlnfsTer21)
c.77del (p.Pro26GlnfsTer21)
c.416del (p.Pro139GlnfsTer21)
Xg.108571429C>ACA413919840COL4A5c.401C>A (p.Pro134Gln)
c.77C>A (p.Pro26Gln)
c.416C>A (p.Pro139Gln)
 gnomAD v4
Xg.108571429C>GCA413919850COL4A5c.401C>G (p.Pro134Arg)
c.77C>G (p.Pro26Arg)
c.416C>G (p.Pro139Arg)
Xg.108571429C>TCA413919843COL4A5c.401C>T (p.Pro134Leu)
c.77C>T (p.Pro26Leu)
c.416C>T (p.Pro139Leu)
 gnomAD v4
Xg.108571430A=CA2450680110COL4A5c.402A= (p.Pro134=)
c.78A= (p.Pro26=)
c.417A= (p.Pro139=)
Xg.108571430A>CCA517991542COL4A5c.402A>C (p.Pro134=)
c.78A>C (p.Pro26=)
c.417A>C (p.Pro139=)
Xg.108571430A>GCA517991540COL4A5c.402A>G (p.Pro134=)
c.78A>G (p.Pro26=)
c.417A>G (p.Pro139=)
 ClinVar
Xg.108571430A>TCA517991541COL4A5c.402A>T (p.Pro134=)
c.78A>T (p.Pro26=)
c.417A>T (p.Pro139=)
 dbSNP gnomAD v3 gnomAD v4
Xg.108571431G>ACA413919854COL4A5c.403G>A (p.Gly135Ser)
c.79G>A (p.Gly27Ser)
c.418G>A (p.Gly140Ser)
Xg.108571431G>CCA413919864COL4A5c.403G>C (p.Gly135Arg)
c.79G>C (p.Gly27Arg)
c.418G>C (p.Gly140Arg)
Xg.108571431G>TCA413919861COL4A5c.403G>T (p.Gly135Cys)
c.79G>T (p.Gly27Cys)
c.418G>T (p.Gly140Cys)
 gnomAD v4
Xg.108571432G>ACA413919868COL4A5c.404G>A (p.Gly135Asp)
c.80G>A (p.Gly27Asp)
c.419G>A (p.Gly140Asp)
 ClinVar dbSNP gnomAD v4
Xg.108571432G>CCA413919901COL4A5c.404G>C (p.Gly135Ala)
c.80G>C (p.Gly27Ala)
c.419G>C (p.Gly140Ala)
 gnomAD v4
Xg.108571432G=CA2450680111COL4A5c.404G= (p.Gly135=)
c.80G= (p.Gly27=)
c.419G= (p.Gly140=)
Xg.108571432G>TCA413919895COL4A5c.404G>T (p.Gly135Val)
c.80G>T (p.Gly27Val)
c.419G>T (p.Gly140Val)
 ClinVar COSMIC COSMIC
Xg.108571433C>ACA517991543COL4A5c.405C>A (p.Gly135=)
c.81C>A (p.Gly27=)
c.420C>A (p.Gly140=)
Xg.108571433C=CA2450680112COL4A5c.405C= (p.Gly135=)
c.81C= (p.Gly27=)
c.420C= (p.Gly140=)
Xg.108571433C>GCA517991544COL4A5c.405C>G (p.Gly135=)
c.81C>G (p.Gly27=)
c.420C>G (p.Gly140=)
Xg.108571433C>TCA10488450COL4A5c.405C>T (p.Gly135=)
c.81C>T (p.Gly27=)
c.420C>T (p.Gly140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched