Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.108655413_108655414delinsGACA2450708623COL4A5c.3329_3330delinsGA (p.Gly1110=)
c.3005_3006delinsGA (p.Gly1002=)
c.902_903delinsGA (p.Gly301=)
c.3344_3345delinsGA (p.Gly1115=)
c.1664_1665delinsGA (p.Gly555=)
Xg.108655414A>CCA517926953COL4A5c.3330A>C (p.Gly1110=)
c.3006A>C (p.Gly1002=)
c.903A>C (p.Gly301=)
c.3345A>C (p.Gly1115=)
c.1665A>C (p.Gly555=)
Xg.108655414A>GCA517926954COL4A5c.3330A>G (p.Gly1110=)
c.3006A>G (p.Gly1002=)
c.903A>G (p.Gly301=)
c.3345A>G (p.Gly1115=)
c.1665A>G (p.Gly555=)
gnomAD v4
Xg.108655414A>TCA517926955COL4A5c.3330A>T (p.Gly1110=)
c.3006A>T (p.Gly1002=)
c.903A>T (p.Gly301=)
c.3345A>T (p.Gly1115=)
c.1665A>T (p.Gly555=)
Xg.108655415delCA258857COL4A5c.3331del (p.Thr1111ProfsTer?)
c.3007del (p.Thr1003ProfsTer?)
c.904del (p.Thr302ProfsTer?)
c.3346del (p.Thr1116ProfsTer?)
c.1666del (p.Thr556ProfsTer?)
dbSNP
Xg.108655415A>CCA413857502COL4A5c.3331A>C (p.Thr1111Pro)
c.3007A>C (p.Thr1003Pro)
c.904A>C (p.Thr302Pro)
c.3346A>C (p.Thr1116Pro)
c.1666A>C (p.Thr556Pro)
Xg.108655415A>GCA413857504COL4A5c.3331A>G (p.Thr1111Ala)
c.3007A>G (p.Thr1003Ala)
c.904A>G (p.Thr302Ala)
c.3346A>G (p.Thr1116Ala)
c.1666A>G (p.Thr556Ala)
Xg.108655415A>TCA413857506COL4A5c.3331A>T (p.Thr1111Ser)
c.3007A>T (p.Thr1003Ser)
c.904A>T (p.Thr302Ser)
c.3346A>T (p.Thr1116Ser)
c.1666A>T (p.Thr556Ser)
Xg.108655416C>ACA413857508COL4A5c.3332C>A (p.Thr1111Asn)
c.3008C>A (p.Thr1003Asn)
c.905C>A (p.Thr302Asn)
c.3347C>A (p.Thr1116Asn)
c.1667C>A (p.Thr556Asn)
gnomAD v4
Xg.108655416C>GCA413857509COL4A5c.3332C>G (p.Thr1111Ser)
c.3008C>G (p.Thr1003Ser)
c.905C>G (p.Thr302Ser)
c.3347C>G (p.Thr1116Ser)
c.1667C>G (p.Thr556Ser)
gnomAD v4
Xg.108655416C>TCA413857511COL4A5c.3332C>T (p.Thr1111Ile)
c.3008C>T (p.Thr1003Ile)
c.905C>T (p.Thr302Ile)
c.3347C>T (p.Thr1116Ile)
c.1667C>T (p.Thr556Ile)
Xg.108655417C>ACA517926958COL4A5c.3333C>A (p.Thr1111=)
c.3009C>A (p.Thr1003=)
c.906C>A (p.Thr302=)
c.3348C>A (p.Thr1116=)
c.1668C>A (p.Thr556=)
Xg.108655417C=CA2450708624COL4A5c.3333C= (p.Thr1111=)
c.3009C= (p.Thr1003=)
c.906C= (p.Thr302=)
c.3348C= (p.Thr1116=)
c.1668C= (p.Thr556=)
Xg.108655417C>GCA517926959COL4A5c.3333C>G (p.Thr1111=)
c.3009C>G (p.Thr1003=)
c.906C>G (p.Thr302=)
c.3348C>G (p.Thr1116=)
c.1668C>G (p.Thr556=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
Xg.108655417C>TCA10489093COL4A5c.3333C>T (p.Thr1111=)
c.3009C>T (p.Thr1003=)
c.906C>T (p.Thr302=)
c.3348C>T (p.Thr1116=)
c.1668C>T (p.Thr556=)
dbSNP ExAC gnomAD v2 gnomAD v4
Xg.108655418C>ACA413857514COL4A5c.3334C>A (p.Pro1112Thr)
c.3010C>A (p.Pro1004Thr)
c.907C>A (p.Pro303Thr)
c.3349C>A (p.Pro1117Thr)
c.1669C>A (p.Pro557Thr)
ClinVar
Xg.108655418C>GCA413857516COL4A5c.3334C>G (p.Pro1112Ala)
c.3010C>G (p.Pro1004Ala)
c.907C>G (p.Pro303Ala)
c.3349C>G (p.Pro1117Ala)
c.1669C>G (p.Pro557Ala)
Xg.108655418C>TCA413857518COL4A5c.3334C>T (p.Pro1112Ser)
c.3010C>T (p.Pro1004Ser)
c.907C>T (p.Pro303Ser)
c.3349C>T (p.Pro1117Ser)
c.1669C>T (p.Pro557Ser)
Xg.108655418_108655421dupCA258858COL4A5c.3334_3337dup (p.Gly1113AlafsTer25)
c.3010_3013dup (p.Gly1005AlafsTer25)
c.907_910dup (p.Gly304AlafsTer25)
c.3349_3352dup (p.Gly1118AlafsTer25)
c.1669_1672dup (p.Gly558AlafsTer25)
dbSNP
Xg.108655419C>ACA413857519COL4A5c.3335C>A (p.Pro1112His)
c.3011C>A (p.Pro1004His)
c.908C>A (p.Pro303His)
c.3350C>A (p.Pro1117His)
c.1670C>A (p.Pro557His)
Xg.108655419C>GCA413857521COL4A5c.3335C>G (p.Pro1112Arg)
c.3011C>G (p.Pro1004Arg)
c.908C>G (p.Pro303Arg)
c.3350C>G (p.Pro1117Arg)
c.1670C>G (p.Pro557Arg)
Xg.108655419C>TCA413857523COL4A5c.3335C>T (p.Pro1112Leu)
c.3011C>T (p.Pro1004Leu)
c.908C>T (p.Pro303Leu)
c.3350C>T (p.Pro1117Leu)
c.1670C>T (p.Pro557Leu)
dbSNP
Xg.108655420T>ACA517926961COL4A5c.3336T>A (p.Pro1112=)
c.3012T>A (p.Pro1004=)
c.909T>A (p.Pro303=)
c.3351T>A (p.Pro1117=)
c.1671T>A (p.Pro557=)
Xg.108655420T>CCA517926962COL4A5c.3336T>C (p.Pro1112=)
c.3012T>C (p.Pro1004=)
c.909T>C (p.Pro303=)
c.3351T>C (p.Pro1117=)
c.1671T>C (p.Pro557=)
Xg.108655420T>GCA517926964COL4A5c.3336T>G (p.Pro1112=)
c.3012T>G (p.Pro1004=)
c.909T>G (p.Pro303=)
c.3351T>G (p.Pro1117=)
c.1671T>G (p.Pro557=)
Xg.108655421G>ACA413857529COL4A5c.3337G>A (p.Gly1113Arg)
c.3013G>A (p.Gly1005Arg)
c.910G>A (p.Gly304Arg)
c.3352G>A (p.Gly1118Arg)
c.1672G>A (p.Gly558Arg)
Xg.108655421G>CCA413857527COL4A5c.3337G>C (p.Gly1113Arg)
c.3013G>C (p.Gly1005Arg)
c.910G>C (p.Gly304Arg)
c.3352G>C (p.Gly1118Arg)
c.1672G>C (p.Gly558Arg)
Xg.108655421G>TCA413857525COL4A5c.3337G>T (p.Gly1113Ter)
c.3013G>T (p.Gly1005Ter)
c.910G>T (p.Gly304Ter)
c.3352G>T (p.Gly1118Ter)
c.1672G>T (p.Gly558Ter)
Xg.108655422G>ACA413857532COL4A5c.3338G>A (p.Gly1113Glu)
c.3014G>A (p.Gly1005Glu)
c.911G>A (p.Gly304Glu)
c.3353G>A (p.Gly1118Glu)
c.1673G>A (p.Gly558Glu)
Xg.108655422G>CCA334066777COL4A5c.3338G>C (p.Gly1113Ala)
c.3014G>C (p.Gly1005Ala)
c.911G>C (p.Gly304Ala)
c.3353G>C (p.Gly1118Ala)
c.1673G>C (p.Gly558Ala)
dbSNP
Xg.108655422G=CA2450708625COL4A5c.3338G= (p.Gly1113=)
c.3014G= (p.Gly1005=)
c.911G= (p.Gly304=)
c.3353G= (p.Gly1118=)
c.1673G= (p.Gly558=)
Xg.108655422G>TCA413857535COL4A5c.3338G>T (p.Gly1113Val)
c.3014G>T (p.Gly1005Val)
c.911G>T (p.Gly304Val)
c.3353G>T (p.Gly1118Val)
c.1673G>T (p.Gly558Val)
Xg.108655423A=CA2450708626COL4A5c.3339A= (p.Gly1113=)
c.3015A= (p.Gly1005=)
c.912A= (p.Gly304=)
c.3354A= (p.Gly1118=)
c.1674A= (p.Gly558=)
Xg.108655423A>CCA517926965COL4A5c.3339A>C (p.Gly1113=)
c.3015A>C (p.Gly1005=)
c.912A>C (p.Gly304=)
c.3354A>C (p.Gly1118=)
c.1674A>C (p.Gly558=)
dbSNP gnomAD v3 gnomAD v4
Xg.108655423A>GCA517926967COL4A5c.3339A>G (p.Gly1113=)
c.3015A>G (p.Gly1005=)
c.912A>G (p.Gly304=)
c.3354A>G (p.Gly1118=)
c.1674A>G (p.Gly558=)
Xg.108655423A>TCA517926966COL4A5c.3339A>T (p.Gly1113=)
c.3015A>T (p.Gly1005=)
c.912A>T (p.Gly304=)
c.3354A>T (p.Gly1118=)
c.1674A>T (p.Gly558=)
Xg.108655424G>ACA413857537COL4A5c.3340G>A (p.Ala1114Thr)
c.3016G>A (p.Ala1006Thr)
c.913G>A (p.Ala305Thr)
c.3355G>A (p.Ala1119Thr)
c.1675G>A (p.Ala559Thr)
COSMIC COSMIC
Xg.108655424G>CCA413857539COL4A5c.3340G>C (p.Ala1114Pro)
c.3016G>C (p.Ala1006Pro)
c.913G>C (p.Ala305Pro)
c.3355G>C (p.Ala1119Pro)
c.1675G>C (p.Ala559Pro)
Xg.108655424G>TCA413857540COL4A5c.3340G>T (p.Ala1114Ser)
c.3016G>T (p.Ala1006Ser)
c.913G>T (p.Ala305Ser)
c.3355G>T (p.Ala1119Ser)
c.1675G>T (p.Ala559Ser)
Xg.108655425C>ACA413857542COL4A5c.3341C>A (p.Ala1114Glu)
c.3017C>A (p.Ala1006Glu)
c.914C>A (p.Ala305Glu)
c.3356C>A (p.Ala1119Glu)
c.1676C>A (p.Ala559Glu)
gnomAD v4
Xg.108655425C>GCA413857544COL4A5c.3341C>G (p.Ala1114Gly)
c.3017C>G (p.Ala1006Gly)
c.914C>G (p.Ala305Gly)
c.3356C>G (p.Ala1119Gly)
c.1676C>G (p.Ala559Gly)
Xg.108655425C>TCA413857546COL4A5c.3341C>T (p.Ala1114Val)
c.3017C>T (p.Ala1006Val)
c.914C>T (p.Ala305Val)
c.3356C>T (p.Ala1119Val)
c.1676C>T (p.Ala559Val)
dbSNP
Xg.108655426A>CCA517926968COL4A5c.3342A>C (p.Ala1114=)
c.3018A>C (p.Ala1006=)
c.915A>C (p.Ala305=)
c.3357A>C (p.Ala1119=)
c.1677A>C (p.Ala559=)
Xg.108655426A>GCA517926969COL4A5c.3342A>G (p.Ala1114=)
c.3018A>G (p.Ala1006=)
c.915A>G (p.Ala305=)
c.3357A>G (p.Ala1119=)
c.1677A>G (p.Ala559=)
Xg.108655426A>TCA517926970COL4A5c.3342A>T (p.Ala1114=)
c.3018A>T (p.Ala1006=)
c.915A>T (p.Ala305=)
c.3357A>T (p.Ala1119=)
c.1677A>T (p.Ala559=)
Xg.108655427A>CCA413857548COL4A5c.3343A>C (p.Lys1115Gln)
c.3019A>C (p.Lys1007Gln)
c.916A>C (p.Lys306Gln)
c.3358A>C (p.Lys1120Gln)
c.1678A>C (p.Lys560Gln)
Xg.108655427A>GCA413857550COL4A5c.3343A>G (p.Lys1115Glu)
c.3019A>G (p.Lys1007Glu)
c.916A>G (p.Lys306Glu)
c.3358A>G (p.Lys1120Glu)
c.1678A>G (p.Lys560Glu)
Xg.108655427A>TCA413857552COL4A5c.3343A>T (p.Lys1115Ter)
c.3019A>T (p.Lys1007Ter)
c.916A>T (p.Lys306Ter)
c.3358A>T (p.Lys1120Ter)
c.1678A>T (p.Lys560Ter)
Xg.108655428A>CCA413857556COL4A5c.3344A>C (p.Lys1115Thr)
c.3020A>C (p.Lys1007Thr)
c.917A>C (p.Lys306Thr)
c.3359A>C (p.Lys1120Thr)
c.1679A>C (p.Lys560Thr)
Xg.108655428A>GCA413857555COL4A5c.3344A>G (p.Lys1115Arg)
c.3020A>G (p.Lys1007Arg)
c.917A>G (p.Lys306Arg)
c.3359A>G (p.Lys1120Arg)
c.1679A>G (p.Lys560Arg)

Number of alleles fetched