Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108580571G>ACA334180624COL4A5c.819G>A (p.Gly273=)
c.495G>A (p.Gly165=)
c.834G>A (p.Gly278=)
 dbSNP
Xg.108580571G>CCA517991861COL4A5c.819G>C (p.Gly273=)
c.495G>C (p.Gly165=)
c.834G>C (p.Gly278=)
Xg.108580571G=CA2450683029COL4A5c.819G= (p.Gly273=)
c.495G= (p.Gly165=)
c.834G= (p.Gly278=)
Xg.108580571G>TCA517991862COL4A5c.819G>T (p.Gly273=)
c.495G>T (p.Gly165=)
c.834G>T (p.Gly278=)
 ClinVar
Xg.108580572A>CCA413925826COL4A5c.820A>C (p.Ile274Leu)
c.496A>C (p.Ile166Leu)
c.835A>C (p.Ile279Leu)
Xg.108580572A>GCA413925828COL4A5c.820A>G (p.Ile274Val)
c.496A>G (p.Ile166Val)
c.835A>G (p.Ile279Val)
 COSMIC COSMIC
Xg.108580572A>TCA413925831COL4A5c.820A>T (p.Ile274Leu)
c.496A>T (p.Ile166Leu)
c.835A>T (p.Ile279Leu)
Xg.108580573T>ACA413925843COL4A5c.821T>A (p.Ile274Lys)
c.497T>A (p.Ile166Lys)
c.836T>A (p.Ile279Lys)
Xg.108580573T>CCA413925836COL4A5c.821T>C (p.Ile274Thr)
c.497T>C (p.Ile166Thr)
c.836T>C (p.Ile279Thr)
Xg.108580573T>GCA413925834COL4A5c.821T>G (p.Ile274Arg)
c.497T>G (p.Ile166Arg)
c.836T>G (p.Ile279Arg)
Xg.108580574A>CCA517991863COL4A5c.822A>C (p.Ile274=)
c.498A>C (p.Ile166=)
c.837A>C (p.Ile279=)
Xg.108580574A>GCA413925846COL4A5c.822A>G (p.Ile274Met)
c.498A>G (p.Ile166Met)
c.837A>G (p.Ile279Met)
Xg.108580574A>TCA517991864COL4A5c.822A>T (p.Ile274=)
c.498A>T (p.Ile166=)
c.837A>T (p.Ile279=)
Xg.108580575C>ACA413925849COL4A5c.823C>A (p.Arg275Ser)
c.499C>A (p.Arg167Ser)
c.838C>A (p.Arg280Ser)
Xg.108580575C=CA2450683030COL4A5c.823C= (p.Arg275=)
c.499C= (p.Arg167=)
c.838C= (p.Arg280=)
Xg.108580575C>GCA413925852COL4A5c.823C>G (p.Arg275Gly)
c.499C>G (p.Arg167Gly)
c.838C>G (p.Arg280Gly)
Xg.108580575C>TCA10488573COL4A5c.823C>T (p.Arg275Cys)
c.499C>T (p.Arg167Cys)
c.838C>T (p.Arg280Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
Xg.108580576G>ACA10488574COL4A5c.824G>A (p.Arg275His)
c.500G>A (p.Arg167His)
c.839G>A (p.Arg280His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580576G>CCA413925858COL4A5c.824G>C (p.Arg275Pro)
c.500G>C (p.Arg167Pro)
c.839G>C (p.Arg280Pro)
Xg.108580576G=CA2450683031COL4A5c.824G= (p.Arg275=)
c.500G= (p.Arg167=)
c.839G= (p.Arg280=)
Xg.108580576G>TCA413925860COL4A5c.824G>T (p.Arg275Leu)
c.500G>T (p.Arg167Leu)
c.839G>T (p.Arg280Leu)
 gnomAD v4
Xg.108580577T>ACA517991865COL4A5c.825T>A (p.Arg275=)
c.501T>A (p.Arg167=)
c.840T>A (p.Arg280=)
Xg.108580577T>CCA517991866COL4A5c.825T>C (p.Arg275=)
c.501T>C (p.Arg167=)
c.840T>C (p.Arg280=)
Xg.108580577T>GCA517991867COL4A5c.825T>G (p.Arg275=)
c.501T>G (p.Arg167=)
c.840T>G (p.Arg280=)
Xg.108580578G>ACA413925864COL4A5c.826G>A (p.Gly276Ser)
c.502G>A (p.Gly168Ser)
c.841G>A (p.Gly281Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.108580578G>CCA413925865COL4A5c.826G>C (p.Gly276Arg)
c.502G>C (p.Gly168Arg)
c.841G>C (p.Gly281Arg)
Xg.108580578G=CA2450683032COL4A5c.826G= (p.Gly276=)
c.502G= (p.Gly168=)
c.841G= (p.Gly281=)
Xg.108580578G>TCA413925866COL4A5c.826G>T (p.Gly276Cys)
c.502G>T (p.Gly168Cys)
c.841G>T (p.Gly281Cys)
Xg.108580579delCA2579675972COL4A5c.827del (p.Gly276ValfsTer?)
c.503del (p.Gly168ValfsTer?)
c.842del (p.Gly281ValfsTer?)
Xg.108580579G>ACA413925867COL4A5c.827G>A (p.Gly276Asp)
c.503G>A (p.Gly168Asp)
c.842G>A (p.Gly281Asp)
Xg.108580579G>CCA413925869COL4A5c.827G>C (p.Gly276Ala)
c.503G>C (p.Gly168Ala)
c.842G>C (p.Gly281Ala)
Xg.108580579G>TCA413925870COL4A5c.827G>T (p.Gly276Val)
c.503G>T (p.Gly168Val)
c.842G>T (p.Gly281Val)
 ClinVar
Xg.108580580T>ACA517991868COL4A5c.828T>A (p.Gly276=)
c.504T>A (p.Gly168=)
c.843T>A (p.Gly281=)
Xg.108580580T>CCA517991869COL4A5c.828T>C (p.Gly276=)
c.504T>C (p.Gly168=)
c.843T>C (p.Gly281=)
Xg.108580580T>GCA517991870COL4A5c.828T>G (p.Gly276=)
c.504T>G (p.Gly168=)
c.843T>G (p.Gly281=)
Xg.108580581C>ACA413925877COL4A5c.829C>A (p.Pro277Thr)
c.505C>A (p.Pro169Thr)
c.844C>A (p.Pro282Thr)
Xg.108580581C=CA2450683033COL4A5c.829C= (p.Pro277=)
c.505C= (p.Pro169=)
c.844C= (p.Pro282=)
Xg.108580581C>GCA413925872COL4A5c.829C>G (p.Pro277Ala)
c.505C>G (p.Pro169Ala)
c.844C>G (p.Pro282Ala)
Xg.108580581C>TCA10488575COL4A5c.829C>T (p.Pro277Ser)
c.505C>T (p.Pro169Ser)
c.844C>T (p.Pro282Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
Xg.108580582C>ACA413925881COL4A5c.830C>A (p.Pro277His)
c.506C>A (p.Pro169His)
c.845C>A (p.Pro282His)
Xg.108580582C=CA2450683034COL4A5c.830C= (p.Pro277=)
c.506C= (p.Pro169=)
c.845C= (p.Pro282=)
Xg.108580582C>GCA413925885COL4A5c.830C>G (p.Pro277Arg)
c.506C>G (p.Pro169Arg)
c.845C>G (p.Pro282Arg)
Xg.108580582C>TCA334180629COL4A5c.830C>T (p.Pro277Leu)
c.506C>T (p.Pro169Leu)
c.845C>T (p.Pro282Leu)
 ClinVar dbSNP gnomAD v4
Xg.108580583T>ACA517991873COL4A5c.831T>A (p.Pro277=)
c.507T>A (p.Pro169=)
c.846T>A (p.Pro282=)
Xg.108580583T>CCA517991871COL4A5c.831T>C (p.Pro277=)
c.507T>C (p.Pro169=)
c.846T>C (p.Pro282=)
 gnomAD v4
Xg.108580583T>GCA517991872COL4A5c.831T>G (p.Pro277=)
c.507T>G (p.Pro169=)
c.846T>G (p.Pro282=)
Xg.108580584C>ACA413925890COL4A5c.832C>A (p.Pro278Thr)
c.508C>A (p.Pro170Thr)
c.847C>A (p.Pro283Thr)
Xg.108580584C>GCA413925891COL4A5c.832C>G (p.Pro278Ala)
c.508C>G (p.Pro170Ala)
c.847C>G (p.Pro283Ala)
Xg.108580584C>TCA413925893COL4A5c.832C>T (p.Pro278Ser)
c.508C>T (p.Pro170Ser)
c.847C>T (p.Pro283Ser)
Xg.108580585C>ACA413925895COL4A5c.833C>A (p.Pro278Gln)
c.509C>A (p.Pro170Gln)
c.848C>A (p.Pro283Gln)

Number of alleles fetched