Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227290772G>ACA431506256COL4A3,MFF-DTc.3096G>A (p.Leu1032=)
c.207G>A (p.Leu69=)
n.257G>A
n.244-8983C>T
c.2991G>A (p.Leu997=)
c.1857G>A (p.Leu619=)
n.3234G>A
2g.227290772G>CCA350855514COL4A3,MFF-DTc.3096G>C (p.Leu1032Phe)
c.207G>C (p.Leu69Phe)
n.257G>C
n.244-8983C>G
c.2991G>C (p.Leu997Phe)
c.1857G>C (p.Leu619Phe)
n.3234G>C
2g.227290772G>TCA350855515COL4A3,MFF-DTc.3096G>T (p.Leu1032Phe)
c.207G>T (p.Leu69Phe)
n.257G>T
n.244-8983C>A
c.2991G>T (p.Leu997Phe)
c.1857G>T (p.Leu619Phe)
n.3234G>T
2g.227290773G>ACA350855516COL4A3,MFF-DTc.3097G>A (p.Gly1033Arg)
c.208G>A (p.Gly70Arg)
n.258G>A
n.244-8984C>T
c.2992G>A (p.Gly998Arg)
c.1858G>A (p.Gly620Arg)
n.3235G>A
2g.227290773G>CCA350855518COL4A3,MFF-DTc.3097G>C (p.Gly1033Arg)
c.208G>C (p.Gly70Arg)
n.258G>C
n.244-8984C>G
c.2992G>C (p.Gly998Arg)
c.1858G>C (p.Gly620Arg)
n.3235G>C
2g.227290773G=CA1332854814COL4A3,MFF-DTc.3097G= (p.Gly1033=)
c.208G= (p.Gly70=)
n.258G=
n.244-8984C=
c.2992G= (p.Gly998=)
c.1858G= (p.Gly620=)
n.3235G=
2g.227290773G>TCA350855520COL4A3,MFF-DTc.3097G>T (p.Gly1033Ter)
c.208G>T (p.Gly70Ter)
n.258G>T
n.244-8984C>A
c.2992G>T (p.Gly998Ter)
c.1858G>T (p.Gly620Ter)
n.3235G>T
 dbSNP gnomAD v4
2g.227290774G>ACA350855523COL4A3,MFF-DTc.3098G>A (p.Gly1033Glu)
c.209G>A (p.Gly70Glu)
n.259G>A
n.244-8985C>T
c.2993G>A (p.Gly998Glu)
c.1859G>A (p.Gly620Glu)
n.3236G>A
2g.227290774G>CCA350855524COL4A3,MFF-DTc.3098G>C (p.Gly1033Ala)
c.209G>C (p.Gly70Ala)
n.259G>C
n.244-8985C>G
c.2993G>C (p.Gly998Ala)
c.1859G>C (p.Gly620Ala)
n.3236G>C
2g.227290774G>TCA350855528COL4A3,MFF-DTc.3098G>T (p.Gly1033Val)
c.209G>T (p.Gly70Val)
n.259G>T
n.244-8985C>A
c.2993G>T (p.Gly998Val)
c.1859G>T (p.Gly620Val)
n.3236G>T
2g.227290775A>CCA431506259COL4A3,MFF-DTc.3099A>C (p.Gly1033=)
c.210A>C (p.Gly70=)
n.260A>C
n.244-8986T>G
c.2994A>C (p.Gly998=)
c.1860A>C (p.Gly620=)
n.3237A>C
2g.227290775A>GCA431506258COL4A3,MFF-DTc.3099A>G (p.Gly1033=)
c.210A>G (p.Gly70=)
n.260A>G
n.244-8986T>C
c.2994A>G (p.Gly998=)
c.1860A>G (p.Gly620=)
n.3237A>G
 gnomAD v4
2g.227290775A>TCA431506257COL4A3,MFF-DTc.3099A>T (p.Gly1033=)
c.210A>T (p.Gly70=)
n.260A>T
n.244-8986T>A
c.2994A>T (p.Gly998=)
c.1860A>T (p.Gly620=)
n.3237A>T
 ClinVar dbSNP
2g.227290776T>ACA2147111COL4A3,MFF-DTc.3100T>A (p.Phe1034Ile)
c.211T>A (p.Phe71Ile)
n.261T>A
n.244-8987A>T
c.2995T>A (p.Phe999Ile)
c.1861T>A (p.Phe621Ile)
n.3238T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227290776T>CCA350855532COL4A3,MFF-DTc.3100T>C (p.Phe1034Leu)
c.211T>C (p.Phe71Leu)
n.261T>C
n.244-8987A>G
c.2995T>C (p.Phe999Leu)
c.1861T>C (p.Phe621Leu)
n.3238T>C
2g.227290776T>GCA350855530COL4A3,MFF-DTc.3100T>G (p.Phe1034Val)
c.211T>G (p.Phe71Val)
n.261T>G
n.244-8987A>C
c.2995T>G (p.Phe999Val)
c.1861T>G (p.Phe621Val)
n.3238T>G
2g.227290776T=CA1332854817COL4A3,MFF-DTc.3100T= (p.Phe1034=)
c.211T= (p.Phe71=)
n.261T=
n.244-8987A=
c.2995T= (p.Phe999=)
c.1861T= (p.Phe621=)
n.3238T=
2g.227290777T>ACA350855535COL4A3,MFF-DTc.3101T>A (p.Phe1034Tyr)
c.212T>A (p.Phe71Tyr)
n.262T>A
n.244-8988A>T
c.2996T>A (p.Phe999Tyr)
c.1862T>A (p.Phe621Tyr)
n.3239T>A
2g.227290777T>CCA350855537COL4A3,MFF-DTc.3101T>C (p.Phe1034Ser)
c.212T>C (p.Phe71Ser)
n.262T>C
n.244-8988A>G
c.2996T>C (p.Phe999Ser)
c.1862T>C (p.Phe621Ser)
n.3239T>C
2g.227290777T>GCA350855538COL4A3,MFF-DTc.3101T>G (p.Phe1034Cys)
c.212T>G (p.Phe71Cys)
n.262T>G
n.244-8988A>C
c.2996T>G (p.Phe999Cys)
c.1862T>G (p.Phe621Cys)
n.3239T>G
2g.227290778C>ACA350855541COL4A3,MFF-DTc.3102C>A (p.Phe1034Leu)
c.213C>A (p.Phe71Leu)
n.263C>A
n.244-8989G>T
c.2997C>A (p.Phe999Leu)
c.1863C>A (p.Phe621Leu)
n.3240C>A
2g.227290778C>GCA350855543COL4A3,MFF-DTc.3102C>G (p.Phe1034Leu)
c.213C>G (p.Phe71Leu)
n.263C>G
n.244-8989G>C
c.2997C>G (p.Phe999Leu)
c.1863C>G (p.Phe621Leu)
n.3240C>G
2g.227290778C>TCA431506261COL4A3,MFF-DTc.3102C>T (p.Phe1034=)
c.213C>T (p.Phe71=)
n.263C>T
n.244-8989G>A
c.2997C>T (p.Phe999=)
c.1863C>T (p.Phe621=)
n.3240C>T
2g.227290779C>ACA350855544COL4A3,MFF-DTc.3103C>A (p.Pro1035Thr)
c.214C>A (p.Pro72Thr)
n.264C>A
n.244-8990G>T
c.2998C>A (p.Pro1000Thr)
c.1864C>A (p.Pro622Thr)
n.3241C>A
2g.227290779C=CA1332854821COL4A3,MFF-DTc.3103C= (p.Pro1035=)
c.214C= (p.Pro72=)
n.264C=
n.244-8990G=
c.2998C= (p.Pro1000=)
c.1864C= (p.Pro622=)
n.3241C=
2g.227290779C>GCA350855546COL4A3,MFF-DTc.3103C>G (p.Pro1035Ala)
c.214C>G (p.Pro72Ala)
n.264C>G
n.244-8990G>C
c.2998C>G (p.Pro1000Ala)
c.1864C>G (p.Pro622Ala)
n.3241C>G
2g.227290779C>TCA2147112COL4A3,MFF-DTc.3103C>T (p.Pro1035Ser)
c.214C>T (p.Pro72Ser)
n.264C>T
n.244-8990G>A
c.2998C>T (p.Pro1000Ser)
c.1864C>T (p.Pro622Ser)
n.3241C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227290780C>ACA350855551COL4A3,MFF-DTc.3104C>A (p.Pro1035Gln)
c.215C>A (p.Pro72Gln)
n.265C>A
n.244-8991G>T
c.2999C>A (p.Pro1000Gln)
c.1865C>A (p.Pro622Gln)
n.3242C>A
2g.227290780C=CA1332854826COL4A3,MFF-DTc.3104C= (p.Pro1035=)
c.215C= (p.Pro72=)
n.265C=
n.244-8991G=
c.2999C= (p.Pro1000=)
c.1865C= (p.Pro622=)
n.3242C=
2g.227290780C>GCA350855553COL4A3,MFF-DTc.3104C>G (p.Pro1035Arg)
c.215C>G (p.Pro72Arg)
n.265C>G
n.244-8991G>C
c.2999C>G (p.Pro1000Arg)
c.1865C>G (p.Pro622Arg)
n.3242C>G
2g.227290780C>TCA2147113COL4A3,MFF-DTc.3104C>T (p.Pro1035Leu)
c.215C>T (p.Pro72Leu)
n.265C>T
n.244-8991G>A
c.2999C>T (p.Pro1000Leu)
c.1865C>T (p.Pro622Leu)
n.3242C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227290781A>CCA431506262COL4A3,MFF-DTc.3105A>C (p.Pro1035=)
c.216A>C (p.Pro72=)
n.266A>C
n.244-8992T>G
c.3000A>C (p.Pro1000=)
c.1866A>C (p.Pro622=)
n.3243A>C
2g.227290781A>GCA431506264COL4A3,MFF-DTc.3105A>G (p.Pro1035=)
c.216A>G (p.Pro72=)
n.266A>G
n.244-8992T>C
c.3000A>G (p.Pro1000=)
c.1866A>G (p.Pro622=)
n.3243A>G
2g.227290781A>TCA431506263COL4A3,MFF-DTc.3105A>T (p.Pro1035=)
c.216A>T (p.Pro72=)
n.266A>T
n.244-8992T>A
c.3000A>T (p.Pro1000=)
c.1866A>T (p.Pro622=)
n.3243A>T
2g.227290782G>ACA350855557COL4A3,MFF-DTc.3106G>A (p.Gly1036Ser)
c.217G>A (p.Gly73Ser)
n.267G>A
n.244-8993C>T
c.3001G>A (p.Gly1001Ser)
c.1867G>A (p.Gly623Ser)
n.3244G>A
2g.227290782G>CCA350855559COL4A3,MFF-DTc.3106G>C (p.Gly1036Arg)
c.217G>C (p.Gly73Arg)
n.267G>C
n.244-8993C>G
c.3001G>C (p.Gly1001Arg)
c.1867G>C (p.Gly623Arg)
n.3244G>C
2g.227290782G>TCA350855560COL4A3,MFF-DTc.3106G>T (p.Gly1036Cys)
c.217G>T (p.Gly73Cys)
n.267G>T
n.244-8993C>A
c.3001G>T (p.Gly1001Cys)
c.1867G>T (p.Gly623Cys)
n.3244G>T
2g.227290783G>ACA350855562COL4A3,MFF-DTc.3107G>A (p.Gly1036Asp)
c.218G>A (p.Gly73Asp)
n.268G>A
n.244-8994C>T
c.3002G>A (p.Gly1001Asp)
c.1868G>A (p.Gly623Asp)
n.3245G>A
2g.227290783G>CCA350855563COL4A3,MFF-DTc.3107G>C (p.Gly1036Ala)
c.218G>C (p.Gly73Ala)
n.268G>C
n.244-8994C>G
c.3002G>C (p.Gly1001Ala)
c.1868G>C (p.Gly623Ala)
n.3245G>C
2g.227290783G>TCA350855561COL4A3,MFF-DTc.3107G>T (p.Gly1036Val)
c.218G>T (p.Gly73Val)
n.268G>T
n.244-8994C>A
c.3002G>T (p.Gly1001Val)
c.1868G>T (p.Gly623Val)
n.3245G>T
2g.227290784T>ACA431506265COL4A3,MFF-DTc.3108T>A (p.Gly1036=)
c.219T>A (p.Gly73=)
n.269T>A
n.244-8995A>T
c.3003T>A (p.Gly1001=)
c.1869T>A (p.Gly623=)
n.3246T>A
2g.227290784T>CCA431506266COL4A3,MFF-DTc.3108T>C (p.Gly1036=)
c.219T>C (p.Gly73=)
n.269T>C
n.244-8995A>G
c.3003T>C (p.Gly1001=)
c.1869T>C (p.Gly623=)
n.3246T>C
 ClinVar dbSNP gnomAD v4
2g.227290784T>GCA431506267COL4A3,MFF-DTc.3108T>G (p.Gly1036=)
c.219T>G (p.Gly73=)
n.269T>G
n.244-8995A>C
c.3003T>G (p.Gly1001=)
c.1869T>G (p.Gly623=)
n.3246T>G
2g.227290785C>ACA2147114COL4A3,MFF-DTc.3109C>A (p.Arg1037=)
c.220C>A (p.Arg74=)
n.270C>A
n.244-8996G>T
c.3004C>A (p.Arg1002=)
c.1870C>A (p.Arg624=)
n.3247C>A
 dbSNP ExAC gnomAD v2
2g.227290785C=CA1332854831COL4A3,MFF-DTc.3109C= (p.Arg1037=)
c.220C= (p.Arg74=)
n.270C=
n.244-8996G=
c.3004C= (p.Arg1002=)
c.1870C= (p.Arg624=)
n.3247C=
2g.227290785C>GCA350855567COL4A3,MFF-DTc.3109C>G (p.Arg1037Gly)
c.220C>G (p.Arg74Gly)
n.270C>G
n.244-8996G>C
c.3004C>G (p.Arg1002Gly)
c.1870C>G (p.Arg624Gly)
n.3247C>G
2g.227290785C>TCA2147115COL4A3,MFF-DTc.3109C>T (p.Arg1037Ter)
c.220C>T (p.Arg74Ter)
n.270C>T
n.244-8996G>A
c.3004C>T (p.Arg1002Ter)
c.1870C>T (p.Arg624Ter)
n.3247C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227290786G>ACA2147116COL4A3,MFF-DTc.3110G>A (p.Arg1037Gln)
c.221G>A (p.Arg74Gln)
n.271G>A
n.244-8997C>T
c.3005G>A (p.Arg1002Gln)
c.1871G>A (p.Arg624Gln)
n.3248G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227290786G>CCA350855571COL4A3,MFF-DTc.3110G>C (p.Arg1037Pro)
c.221G>C (p.Arg74Pro)
n.271G>C
n.244-8997C>G
c.3005G>C (p.Arg1002Pro)
c.1871G>C (p.Arg624Pro)
n.3248G>C
2g.227290786G=CA1332854839COL4A3,MFF-DTc.3110G= (p.Arg1037=)
c.221G= (p.Arg74=)
n.271G=
n.244-8997C=
c.3005G= (p.Arg1002=)
c.1871G= (p.Arg624=)
n.3248G=

Number of alleles fetched