Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227293230G>ACA350857389COL4A3,MFF-DTc.3250G>A (p.Glu1084Lys)
c.361G>A (p.Glu121Lys)
n.244-11441C>T
c.3145G>A (p.Glu1049Lys)
c.*17G>A (n.*17G>A)
c.2011G>A (p.Glu671Lys)
n.3388G>A
 COSMIC COSMIC
2g.227293230G>CCA350857390COL4A3,MFF-DTc.3250G>C (p.Glu1084Gln)
c.361G>C (p.Glu121Gln)
n.244-11441C>G
c.3145G>C (p.Glu1049Gln)
c.*17G>C (n.*17G>C)
c.2011G>C (p.Glu671Gln)
n.3388G>C
 gnomAD v4
2g.227293230G=CA1332855418COL4A3,MFF-DTc.3250G= (p.Glu1084=)
c.361G= (p.Glu121=)
n.244-11441C=
c.3145G= (p.Glu1049=)
c.*17G= (n.*17G=)
c.2011G= (p.Glu671=)
n.3388G=
2g.227293230G>TCA350857395COL4A3,MFF-DTc.3250G>T (p.Glu1084Ter)
c.361G>T (p.Glu121Ter)
n.244-11441C>A
c.3145G>T (p.Glu1049Ter)
c.*17G>T (n.*17G>T)
c.2011G>T (p.Glu671Ter)
n.3388G>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227293231A=CA1332855419COL4A3,MFF-DTc.3251A= (p.Glu1084=)
c.362A= (p.Glu121=)
n.244-11442T=
c.3146A= (p.Glu1049=)
c.*18A= (n.*18A=)
c.2012A= (p.Glu671=)
n.3389A=
2g.227293231A>CCA350857398COL4A3,MFF-DTc.3251A>C (p.Glu1084Ala)
c.362A>C (p.Glu121Ala)
n.244-11442T>G
c.3146A>C (p.Glu1049Ala)
c.*18A>C (n.*18A>C)
c.2012A>C (p.Glu671Ala)
n.3389A>C
2g.227293231A>GCA350857400COL4A3,MFF-DTc.3251A>G (p.Glu1084Gly)
c.362A>G (p.Glu121Gly)
n.244-11442T>C
c.3146A>G (p.Glu1049Gly)
c.*18A>G (n.*18A>G)
c.2012A>G (p.Glu671Gly)
n.3389A>G
2g.227293231A>TCA350857402COL4A3,MFF-DTc.3251A>T (p.Glu1084Val)
c.362A>T (p.Glu121Val)
n.244-11442T>A
c.3146A>T (p.Glu1049Val)
c.*18A>T (n.*18A>T)
c.2012A>T (p.Glu671Val)
n.3389A>T
 ClinVar dbSNP gnomAD v4
2g.227293232A=CA1332855420COL4A3,MFF-DTc.3252A= (p.Glu1084=)
c.363A= (p.Glu121=)
n.244-11443T=
c.3147A= (p.Glu1049=)
c.*19A= (n.*19A=)
c.2013A= (p.Glu671=)
n.3390A=
2g.227293232A>CCA350857404COL4A3,MFF-DTc.3252A>C (p.Glu1084Asp)
c.363A>C (p.Glu121Asp)
n.244-11443T>G
c.3147A>C (p.Glu1049Asp)
c.*19A>C (n.*19A>C)
c.2013A>C (p.Glu671Asp)
n.3390A>C
2g.227293232A>GCA431506385COL4A3,MFF-DTc.3252A>G (p.Glu1084=)
c.363A>G (p.Glu121=)
n.244-11443T>C
c.3147A>G (p.Glu1049=)
c.*19A>G (n.*19A>G)
c.2013A>G (p.Glu671=)
n.3390A>G
2g.227293232A>TCA2147165COL4A3,MFF-DTc.3252A>T (p.Glu1084Asp)
c.363A>T (p.Glu121Asp)
n.244-11443T>A
c.3147A>T (p.Glu1049Asp)
c.*19A>T (n.*19A>T)
c.2013A>T (p.Glu671Asp)
n.3390A>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293233A>CCA350857424COL4A3,MFF-DTc.3253A>C (p.Met1085Leu)
c.364A>C (p.Met122Leu)
n.244-11444T>G
c.3148A>C (p.Met1050Leu)
c.*20A>C (n.*20A>C)
c.2014A>C (p.Met672Leu)
n.3391A>C
2g.227293233A>GCA350857422COL4A3,MFF-DTc.3253A>G (p.Met1085Val)
c.364A>G (p.Met122Val)
n.244-11444T>C
c.3148A>G (p.Met1050Val)
c.*20A>G (n.*20A>G)
c.2014A>G (p.Met672Val)
n.3391A>G
2g.227293233A>TCA350857421COL4A3,MFF-DTc.3253A>T (p.Met1085Leu)
c.364A>T (p.Met122Leu)
n.244-11444T>A
c.3148A>T (p.Met1050Leu)
c.*20A>T (n.*20A>T)
c.2014A>T (p.Met672Leu)
n.3391A>T
2g.227293234T>ACA350857426COL4A3,MFF-DTc.3254T>A (p.Met1085Lys)
c.365T>A (p.Met122Lys)
n.244-11445A>T
c.3149T>A (p.Met1050Lys)
c.*21T>A (n.*21T>A)
c.2015T>A (p.Met672Lys)
n.3392T>A
2g.227293234T>CCA66608115COL4A3,MFF-DTc.3254T>C (p.Met1085Thr)
c.365T>C (p.Met122Thr)
n.244-11445A>G
c.3149T>C (p.Met1050Thr)
c.*21T>C (n.*21T>C)
c.2015T>C (p.Met672Thr)
n.3392T>C
 dbSNP
2g.227293234T>GCA350857427COL4A3,MFF-DTc.3254T>G (p.Met1085Arg)
c.365T>G (p.Met122Arg)
n.244-11445A>C
c.3149T>G (p.Met1050Arg)
c.*21T>G (n.*21T>G)
c.2015T>G (p.Met672Arg)
n.3392T>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227293234T=CA1332855421COL4A3,MFF-DTc.3254T= (p.Met1085=)
c.365T= (p.Met122=)
n.244-11445A=
c.3149T= (p.Met1050=)
c.*21T= (n.*21T=)
c.2015T= (p.Met672=)
n.3392T=
2g.227293235G>ACA2147166COL4A3,MFF-DTc.3255G>A (p.Met1085Ile)
c.366G>A (p.Met122Ile)
n.244-11446C>T
c.3150G>A (p.Met1050Ile)
c.*22G>A (n.*22G>A)
c.2016G>A (p.Met672Ile)
n.3393G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293235G>CCA350857433COL4A3,MFF-DTc.3255G>C (p.Met1085Ile)
c.366G>C (p.Met122Ile)
n.244-11446C>G
c.3150G>C (p.Met1050Ile)
c.*22G>C (n.*22G>C)
c.2016G>C (p.Met672Ile)
n.3393G>C
2g.227293235G=CA1332855422COL4A3,MFF-DTc.3255G= (p.Met1085=)
c.366G= (p.Met122=)
n.244-11446C=
c.3150G= (p.Met1050=)
c.*22G= (n.*22G=)
c.2016G= (p.Met672=)
n.3393G=
2g.227293235G>TCA350857430COL4A3,MFF-DTc.3255G>T (p.Met1085Ile)
c.366G>T (p.Met122Ile)
n.244-11446C>A
c.3150G>T (p.Met1050Ile)
c.*22G>T (n.*22G>T)
c.2016G>T (p.Met672Ile)
n.3393G>T
2g.227293236G>ACA350857435COL4A3,MFF-DTc.3256G>A (p.Gly1086Arg)
c.367G>A (p.Gly123Arg)
n.244-11447C>T
c.3151G>A (p.Gly1051Arg)
c.*23G>A (n.*23G>A)
c.2017G>A (p.Gly673Arg)
n.3394G>A
2g.227293236G>CCA350857440COL4A3,MFF-DTc.3256G>C (p.Gly1086Arg)
c.367G>C (p.Gly123Arg)
n.244-11447C>G
c.3151G>C (p.Gly1051Arg)
c.*23G>C (n.*23G>C)
c.2017G>C (p.Gly673Arg)
n.3394G>C
2g.227293236G>TCA350857441COL4A3,MFF-DTc.3256G>T (p.Gly1086Trp)
c.367G>T (p.Gly123Trp)
n.244-11447C>A
c.3151G>T (p.Gly1051Trp)
c.*23G>T (n.*23G>T)
c.2017G>T (p.Gly673Trp)
n.3394G>T
2g.227293237G>ACA350857442COL4A3,MFF-DTc.3257G>A (p.Gly1086Glu)
c.368G>A (p.Gly123Glu)
n.244-11448C>T
c.3152G>A (p.Gly1051Glu)
c.*24G>A (n.*24G>A)
c.2018G>A (p.Gly673Glu)
n.3395G>A
 ClinVar dbSNP
2g.227293237G>CCA350857443COL4A3,MFF-DTc.3257G>C (p.Gly1086Ala)
c.368G>C (p.Gly123Ala)
n.244-11448C>G
c.3152G>C (p.Gly1051Ala)
c.*24G>C (n.*24G>C)
c.2018G>C (p.Gly673Ala)
n.3395G>C
2g.227293237G=CA1332855423COL4A3,MFF-DTc.3257G= (p.Gly1086=)
c.368G= (p.Gly123=)
n.244-11448C=
c.3152G= (p.Gly1051=)
c.*24G= (n.*24G=)
c.2018G= (p.Gly673=)
n.3395G=
2g.227293237G>TCA350857444COL4A3,MFF-DTc.3257G>T (p.Gly1086Val)
c.368G>T (p.Gly123Val)
n.244-11448C>A
c.3152G>T (p.Gly1051Val)
c.*24G>T (n.*24G>T)
c.2018G>T (p.Gly673Val)
n.3395G>T
2g.227293238G>ACA2147167COL4A3,MFF-DTc.3258G>A (p.Gly1086=)
c.369G>A (p.Gly123=)
n.244-11449C>T
c.3153G>A (p.Gly1051=)
c.*25G>A (n.*25G>A)
c.2019G>A (p.Gly673=)
n.3396G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293238G>CCA431506387COL4A3,MFF-DTc.3258G>C (p.Gly1086=)
c.369G>C (p.Gly123=)
n.244-11449C>G
c.3153G>C (p.Gly1051=)
c.*25G>C (n.*25G>C)
c.2019G>C (p.Gly673=)
n.3396G>C
2g.227293238G=CA1332855424COL4A3,MFF-DTc.3258G= (p.Gly1086=)
c.369G= (p.Gly123=)
n.244-11449C=
c.3153G= (p.Gly1051=)
c.*25G= (n.*25G=)
c.2019G= (p.Gly673=)
n.3396G=
2g.227293238G>TCA431506386COL4A3,MFF-DTc.3258G>T (p.Gly1086=)
c.369G>T (p.Gly123=)
n.244-11449C>A
c.3153G>T (p.Gly1051=)
c.*25G>T (n.*25G>T)
c.2019G>T (p.Gly673=)
n.3396G>T
2g.227293239C>ACA350857446COL4A3,MFF-DTc.3259C>A (p.Gln1087Lys)
c.370C>A (p.Gln124Lys)
n.244-11450G>T
c.3154C>A (p.Gln1052Lys)
c.*26C>A (n.*26C>A)
c.2020C>A (p.Gln674Lys)
n.3397C>A
2g.227293239C>GCA350857448COL4A3,MFF-DTc.3259C>G (p.Gln1087Glu)
c.370C>G (p.Gln124Glu)
n.244-11450G>C
c.3154C>G (p.Gln1052Glu)
c.*26C>G (n.*26C>G)
c.2020C>G (p.Gln674Glu)
n.3397C>G
2g.227293239C>TCA350857451COL4A3,MFF-DTc.3259C>T (p.Gln1087Ter)
c.370C>T (p.Gln124Ter)
n.244-11450G>A
c.3154C>T (p.Gln1052Ter)
c.*26C>T (n.*26C>T)
c.2020C>T (p.Gln674Ter)
n.3397C>T
2g.227293240A>CCA350857457COL4A3,MFF-DTc.3260A>C (p.Gln1087Pro)
c.371A>C (p.Gln124Pro)
n.244-11451T>G
c.3155A>C (p.Gln1052Pro)
c.*27A>C (n.*27A>C)
c.2021A>C (p.Gln674Pro)
n.3398A>C
2g.227293240A>GCA350857460COL4A3,MFF-DTc.3260A>G (p.Gln1087Arg)
c.371A>G (p.Gln124Arg)
n.244-11451T>C
c.3155A>G (p.Gln1052Arg)
c.*27A>G (n.*27A>G)
c.2021A>G (p.Gln674Arg)
n.3398A>G
2g.227293240A>TCA350857464COL4A3,MFF-DTc.3260A>T (p.Gln1087Leu)
c.371A>T (p.Gln124Leu)
n.244-11451T>A
c.3155A>T (p.Gln1052Leu)
c.*27A>T (n.*27A>T)
c.2021A>T (p.Gln674Leu)
n.3398A>T
2g.227293241delCA2586971504COL4A3,MFF-DTc.3261del (p.Gln1087HisfsTer?)
c.372del (p.Gln124HisfsTer?)
n.244-11451del
c.3156del (p.Gln1052HisfsTer?)
c.*28del (n.*28del)
c.2022del (p.Gln674HisfsTer?)
n.3399del
2g.227293241A>CCA350857466COL4A3,MFF-DTc.3261A>C (p.Gln1087His)
c.372A>C (p.Gln124His)
n.244-11452T>G
c.3156A>C (p.Gln1052His)
c.*28A>C (n.*28A>C)
c.2022A>C (p.Gln674His)
n.3399A>C
2g.227293241A>GCA431506389COL4A3,MFF-DTc.3261A>G (p.Gln1087=)
c.372A>G (p.Gln124=)
n.244-11452T>C
c.3156A>G (p.Gln1052=)
c.*28A>G (n.*28A>G)
c.2022A>G (p.Gln674=)
n.3399A>G
2g.227293241A>TCA350857474COL4A3,MFF-DTc.3261A>T (p.Gln1087His)
c.372A>T (p.Gln124His)
n.244-11452T>A
c.3156A>T (p.Gln1052His)
c.*28A>T (n.*28A>T)
c.2022A>T (p.Gln674His)
n.3399A>T
 COSMIC COSMIC
2g.227293247_227293255dupCA431506390COL4A3,MFF-DTc.3267_3275dup (p.Gly1092_His1093insProProGly)
c.378_386dup (p.Gly129_His130insProProGly)
n.244-11460_244-11452dup
c.3162_3170dup (p.Gly1057_His1058insProProGly)
c.*34_*42dup (n.*34_*42dup)
c.2028_2036dup (p.Gly679_His680insProProGly)
n.3405_3413dup
2g.227293242C>ACA350857478COL4A3,MFF-DTc.3262C>A (p.Pro1088Thr)
c.373C>A (p.Pro125Thr)
n.244-11453G>T
c.3157C>A (p.Pro1053Thr)
c.*29C>A (n.*29C>A)
c.2023C>A (p.Pro675Thr)
n.3400C>A
 ClinVar dbSNP gnomAD v4
2g.227293242C=CA1332855425COL4A3,MFF-DTc.3262C= (p.Pro1088=)
c.373C= (p.Pro125=)
n.244-11453G=
c.3157C= (p.Pro1053=)
c.*29C= (n.*29C=)
c.2023C= (p.Pro675=)
n.3400C=
2g.227293242C>GCA350857481COL4A3,MFF-DTc.3262C>G (p.Pro1088Ala)
c.373C>G (p.Pro125Ala)
n.244-11453G>C
c.3157C>G (p.Pro1053Ala)
c.*29C>G (n.*29C>G)
c.2023C>G (p.Pro675Ala)
n.3400C>G
2g.227293242C>TCA350857496COL4A3,MFF-DTc.3262C>T (p.Pro1088Ser)
c.373C>T (p.Pro125Ser)
n.244-11453G>A
c.3157C>T (p.Pro1053Ser)
c.*29C>T (n.*29C>T)
c.2023C>T (p.Pro675Ser)
n.3400C>T
2g.227293243C>ACA350857500COL4A3,MFF-DTc.3263C>A (p.Pro1088His)
c.374C>A (p.Pro125His)
n.244-11454G>T
c.3158C>A (p.Pro1053His)
c.*30C>A (n.*30C>A)
c.2024C>A (p.Pro675His)
n.3401C>A
2g.227293243C=CA1332855426COL4A3,MFF-DTc.3263C= (p.Pro1088=)
c.374C= (p.Pro125=)
n.244-11454G=
c.3158C= (p.Pro1053=)
c.*30C= (n.*30C=)
c.2024C= (p.Pro675=)
n.3401C=
2g.227293243C>GCA2147168COL4A3,MFF-DTc.3263C>G (p.Pro1088Arg)
c.374C>G (p.Pro125Arg)
n.244-11454G>C
c.3158C>G (p.Pro1053Arg)
c.*30C>G (n.*30C>G)
c.2024C>G (p.Pro675Arg)
n.3401C>G
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.227293243C>TCA350857501COL4A3,MFF-DTc.3263C>T (p.Pro1088Leu)
c.374C>T (p.Pro125Leu)
n.244-11454G>A
c.3158C>T (p.Pro1053Leu)
c.*30C>T (n.*30C>T)
c.2024C>T (p.Pro675Leu)
n.3401C>T
 gnomAD v4
2g.227293244T>ACA431506394COL4A3,MFF-DTc.3264T>A (p.Pro1088=)
c.375T>A (p.Pro125=)
n.244-11455A>T
c.3159T>A (p.Pro1053=)
c.*31T>A (n.*31T>A)
c.2025T>A (p.Pro675=)
n.3402T>A
2g.227293244T>CCA431506395COL4A3,MFF-DTc.3264T>C (p.Pro1088=)
c.375T>C (p.Pro125=)
n.244-11455A>G
c.3159T>C (p.Pro1053=)
c.*31T>C (n.*31T>C)
c.2025T>C (p.Pro675=)
n.3402T>C
 gnomAD v4
2g.227293244T>GCA2147169COL4A3,MFF-DTc.3264T>G (p.Pro1088=)
c.375T>G (p.Pro125=)
n.244-11455A>C
c.3159T>G (p.Pro1053=)
c.*31T>G (n.*31T>G)
c.2025T>G (p.Pro675=)
n.3402T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293244T=CA1332855427COL4A3,MFF-DTc.3264T= (p.Pro1088=)
c.375T= (p.Pro125=)
n.244-11455A=
c.3159T= (p.Pro1053=)
c.*31T= (n.*31T=)
c.2025T= (p.Pro675=)
n.3402T=
2g.227293245G>ACA2147170COL4A3,MFF-DTc.3265G>A (p.Gly1089Ser)
c.376G>A (p.Gly126Ser)
n.244-11456C>T
c.3160G>A (p.Gly1054Ser)
c.*32G>A (n.*32G>A)
c.2026G>A (p.Gly676Ser)
n.3403G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293245G>CCA350857503COL4A3,MFF-DTc.3265G>C (p.Gly1089Arg)
c.376G>C (p.Gly126Arg)
n.244-11456C>G
c.3160G>C (p.Gly1054Arg)
c.*32G>C (n.*32G>C)
c.2026G>C (p.Gly676Arg)
n.3403G>C
2g.227293245G=CA1332855428COL4A3,MFF-DTc.3265G= (p.Gly1089=)
c.376G= (p.Gly126=)
n.244-11456C=
c.3160G= (p.Gly1054=)
c.*32G= (n.*32G=)
c.2026G= (p.Gly676=)
n.3403G=
2g.227293245G>TCA350857506COL4A3,MFF-DTc.3265G>T (p.Gly1089Cys)
c.376G>T (p.Gly126Cys)
n.244-11456C>A
c.3160G>T (p.Gly1054Cys)
c.*32G>T (n.*32G>T)
c.2026G>T (p.Gly676Cys)
n.3403G>T
2g.227293246G>ACA350857514COL4A3,MFF-DTc.3266G>A (p.Gly1089Asp)
c.377G>A (p.Gly126Asp)
n.244-11457C>T
c.3161G>A (p.Gly1054Asp)
c.*33G>A (n.*33G>A)
c.2027G>A (p.Gly676Asp)
n.3404G>A
 ClinVar dbSNP COSMIC COSMIC
2g.227293246G>CCA350857512COL4A3,MFF-DTc.3266G>C (p.Gly1089Ala)
c.377G>C (p.Gly126Ala)
n.244-11457C>G
c.3161G>C (p.Gly1054Ala)
c.*33G>C (n.*33G>C)
c.2027G>C (p.Gly676Ala)
n.3404G>C
2g.227293246G=CA1332855429COL4A3,MFF-DTc.3266G= (p.Gly1089=)
c.377G= (p.Gly126=)
n.244-11457C=
c.3161G= (p.Gly1054=)
c.*33G= (n.*33G=)
c.2027G= (p.Gly676=)
n.3404G=
2g.227293246G>TCA350857510COL4A3,MFF-DTc.3266G>T (p.Gly1089Val)
c.377G>T (p.Gly126Val)
n.244-11457C>A
c.3161G>T (p.Gly1054Val)
c.*33G>T (n.*33G>T)
c.2027G>T (p.Gly676Val)
n.3404G>T
 ClinVar
2g.227293247C>ACA431506397COL4A3,MFF-DTc.3267C>A (p.Gly1089=)
c.378C>A (p.Gly126=)
n.244-11458G>T
c.3162C>A (p.Gly1054=)
c.*34C>A (n.*34C>A)
c.2028C>A (p.Gly676=)
n.3405C>A
 gnomAD v4
2g.227293247C>GCA431506399COL4A3,MFF-DTc.3267C>G (p.Gly1089=)
c.378C>G (p.Gly126=)
n.244-11458G>C
c.3162C>G (p.Gly1054=)
c.*34C>G (n.*34C>G)
c.2028C>G (p.Gly676=)
n.3405C>G
2g.227293247C>TCA431506401COL4A3,MFF-DTc.3267C>T (p.Gly1089=)
c.378C>T (p.Gly126=)
n.244-11458G>A
c.3162C>T (p.Gly1054=)
c.*34C>T (n.*34C>T)
c.2028C>T (p.Gly676=)
n.3405C>T
 ClinVar gnomAD v4 COSMIC COSMIC
2g.227293248C>ACA350857522COL4A3,MFF-DTc.3268C>A (p.Pro1090Thr)
c.379C>A (p.Pro127Thr)
n.244-11459G>T
c.3163C>A (p.Pro1055Thr)
c.*35C>A (n.*35C>A)
c.2029C>A (p.Pro677Thr)
n.3406C>A
2g.227293248C>GCA350857525COL4A3,MFF-DTc.3268C>G (p.Pro1090Ala)
c.379C>G (p.Pro127Ala)
n.244-11459G>C
c.3163C>G (p.Pro1055Ala)
c.*35C>G (n.*35C>G)
c.2029C>G (p.Pro677Ala)
n.3406C>G
2g.227293248C>TCA350857526COL4A3,MFF-DTc.3268C>T (p.Pro1090Ser)
c.379C>T (p.Pro127Ser)
n.244-11459G>A
c.3163C>T (p.Pro1055Ser)
c.*35C>T (n.*35C>T)
c.2029C>T (p.Pro677Ser)
n.3406C>T
2g.227293249C>ACA350857532COL4A3,MFF-DTc.3269C>A (p.Pro1090Gln)
c.380C>A (p.Pro127Gln)
n.244-11460G>T
c.3164C>A (p.Pro1055Gln)
c.*36C>A (n.*36C>A)
c.2030C>A (p.Pro677Gln)
n.3407C>A
2g.227293249C=CA1332855430COL4A3,MFF-DTc.3269C= (p.Pro1090=)
c.380C= (p.Pro127=)
n.244-11460G=
c.3164C= (p.Pro1055=)
c.*36C= (n.*36C=)
c.2030C= (p.Pro677=)
n.3407C=
2g.227293249C>GCA350857535COL4A3,MFF-DTc.3269C>G (p.Pro1090Arg)
c.380C>G (p.Pro127Arg)
n.244-11460G>C
c.3164C>G (p.Pro1055Arg)
c.*36C>G (n.*36C>G)
c.2030C>G (p.Pro677Arg)
n.3407C>G
2g.227293249C>TCA66608142COL4A3,MFF-DTc.3269C>T (p.Pro1090Leu)
c.380C>T (p.Pro127Leu)
n.244-11460G>A
c.3164C>T (p.Pro1055Leu)
c.*36C>T (n.*36C>T)
c.2030C>T (p.Pro677Leu)
n.3407C>T
 ClinVar dbSNP
2g.227293250A=CA1332855431COL4A3,MFF-DTc.3270A= (p.Pro1090=)
c.381A= (p.Pro127=)
n.244-11461T=
c.3165A= (p.Pro1055=)
c.*37A= (n.*37A=)
c.2031A= (p.Pro677=)
n.3408A=
2g.227293250A>CCA2147171COL4A3,MFF-DTc.3270A>C (p.Pro1090=)
c.381A>C (p.Pro127=)
n.244-11461T>G
c.3165A>C (p.Pro1055=)
c.*37A>C (n.*37A>C)
c.2031A>C (p.Pro677=)
n.3408A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293250A>GCA431506403COL4A3,MFF-DTc.3270A>G (p.Pro1090=)
c.381A>G (p.Pro127=)
n.244-11461T>C
c.3165A>G (p.Pro1055=)
c.*37A>G (n.*37A>G)
c.2031A>G (p.Pro677=)
n.3408A>G
2g.227293250A>TCA431506404COL4A3,MFF-DTc.3270A>T (p.Pro1090=)
c.381A>T (p.Pro127=)
n.244-11461T>A
c.3165A>T (p.Pro1055=)
c.*37A>T (n.*37A>T)
c.2031A>T (p.Pro677=)
n.3408A>T
 ClinVar
2g.227293251C>ACA350857542COL4A3,MFF-DTc.3271C>A (p.Pro1091Thr)
c.382C>A (p.Pro128Thr)
n.244-11462G>T
c.3166C>A (p.Pro1056Thr)
c.*38C>A (n.*38C>A)
c.2032C>A (p.Pro678Thr)
n.3409C>A
2g.227293251C>GCA350857543COL4A3,MFF-DTc.3271C>G (p.Pro1091Ala)
c.382C>G (p.Pro128Ala)
n.244-11462G>C
c.3166C>G (p.Pro1056Ala)
c.*38C>G (n.*38C>G)
c.2032C>G (p.Pro678Ala)
n.3409C>G
2g.227293251C>TCA350857545COL4A3,MFF-DTc.3271C>T (p.Pro1091Ser)
c.382C>T (p.Pro128Ser)
n.244-11462G>A
c.3166C>T (p.Pro1056Ser)
c.*38C>T (n.*38C>T)
c.2032C>T (p.Pro678Ser)
n.3409C>T
 gnomAD v4
2g.227293252C>ACA350857548COL4A3,MFF-DTc.3272C>A (p.Pro1091His)
c.383C>A (p.Pro128His)
n.244-11463G>T
c.3167C>A (p.Pro1056His)
c.*39C>A (n.*39C>A)
c.2033C>A (p.Pro678His)
n.3410C>A
2g.227293252C=CA1332855432COL4A3,MFF-DTc.3272C= (p.Pro1091=)
c.383C= (p.Pro128=)
n.244-11463G=
c.3167C= (p.Pro1056=)
c.*39C= (n.*39C=)
c.2033C= (p.Pro678=)
n.3410C=
2g.227293252C>GCA66608143COL4A3,MFF-DTc.3272C>G (p.Pro1091Arg)
c.383C>G (p.Pro128Arg)
n.244-11463G>C
c.3167C>G (p.Pro1056Arg)
c.*39C>G (n.*39C>G)
c.2033C>G (p.Pro678Arg)
n.3410C>G
 dbSNP gnomAD v4
2g.227293252C>TCA350857551COL4A3,MFF-DTc.3272C>T (p.Pro1091Leu)
c.383C>T (p.Pro128Leu)
n.244-11463G>A
c.3167C>T (p.Pro1056Leu)
c.*39C>T (n.*39C>T)
c.2033C>T (p.Pro678Leu)
n.3410C>T
2g.227293253T>ACA431506406COL4A3,MFF-DTc.3273T>A (p.Pro1091=)
c.384T>A (p.Pro128=)
n.244-11464A>T
c.3168T>A (p.Pro1056=)
c.*40T>A (n.*40T>A)
c.2034T>A (p.Pro678=)
n.3411T>A
2g.227293253T>CCA431506407COL4A3,MFF-DTc.3273T>C (p.Pro1091=)
c.384T>C (p.Pro128=)
n.244-11464A>G
c.3168T>C (p.Pro1056=)
c.*40T>C (n.*40T>C)
c.2034T>C (p.Pro678=)
n.3411T>C
 ClinVar gnomAD v4
2g.227293253T>GCA431506408COL4A3,MFF-DTc.3273T>G (p.Pro1091=)
c.384T>G (p.Pro128=)
n.244-11464A>C
c.3168T>G (p.Pro1056=)
c.*40T>G (n.*40T>G)
c.2034T>G (p.Pro678=)
n.3411T>G
2g.227293254G>ACA350857559COL4A3,MFF-DTc.3274G>A (p.Gly1092Arg)
c.385G>A (p.Gly129Arg)
n.244-11465C>T
c.3169G>A (p.Gly1057Arg)
c.*41G>A (n.*41G>A)
c.2035G>A (p.Gly679Arg)
n.3412G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227293254G>CCA350857556COL4A3,MFF-DTc.3274G>C (p.Gly1092Arg)
c.385G>C (p.Gly129Arg)
n.244-11465C>G
c.3169G>C (p.Gly1057Arg)
c.*41G>C (n.*41G>C)
c.2035G>C (p.Gly679Arg)
n.3412G>C
2g.227293254G=CA1332855433COL4A3,MFF-DTc.3274G= (p.Gly1092=)
c.385G= (p.Gly129=)
n.244-11465C=
c.3169G= (p.Gly1057=)
c.*41G= (n.*41G=)
c.2035G= (p.Gly679=)
n.3412G=
2g.227293254G>TCA350857557COL4A3,MFF-DTc.3274G>T (p.Gly1092Ter)
c.385G>T (p.Gly129Ter)
n.244-11465C>A
c.3169G>T (p.Gly1057Ter)
c.*41G>T (n.*41G>T)
c.2035G>T (p.Gly679Ter)
n.3412G>T
2g.227293255G>ACA350857565COL4A3,MFF-DTc.3275G>A (p.Gly1092Glu)
c.386G>A (p.Gly129Glu)
n.244-11466C>T
c.3170G>A (p.Gly1057Glu)
c.*42G>A (n.*42G>A)
c.2036G>A (p.Gly679Glu)
n.3413G>A
2g.227293255G>CCA350857570COL4A3,MFF-DTc.3275G>C (p.Gly1092Ala)
c.386G>C (p.Gly129Ala)
n.244-11466C>G
c.3170G>C (p.Gly1057Ala)
c.*42G>C (n.*42G>C)
c.2036G>C (p.Gly679Ala)
n.3413G>C
2g.227293255G=CA1332855434COL4A3,MFF-DTc.3275G= (p.Gly1092=)
c.386G= (p.Gly129=)
n.244-11466C=
c.3170G= (p.Gly1057=)
c.*42G= (n.*42G=)
c.2036G= (p.Gly679=)
n.3413G=
2g.227293255G>TCA350857572COL4A3,MFF-DTc.3275G>T (p.Gly1092Val)
c.386G>T (p.Gly129Val)
n.244-11466C>A
c.3170G>T (p.Gly1057Val)
c.*42G>T (n.*42G>T)
c.2036G>T (p.Gly679Val)
n.3413G>T
 ClinVar dbSNP gnomAD v4
2g.227293256A>CCA431506409COL4A3,MFF-DTc.3276A>C (p.Gly1092=)
c.387A>C (p.Gly129=)
n.244-11467T>G
c.3171A>C (p.Gly1057=)
c.*43A>C (n.*43A>C)
c.2037A>C (p.Gly679=)
n.3414A>C
 ClinVar dbSNP
2g.227293256A>GCA431506410COL4A3,MFF-DTc.3276A>G (p.Gly1092=)
c.387A>G (p.Gly129=)
n.244-11467T>C
c.3171A>G (p.Gly1057=)
c.*43A>G (n.*43A>G)
c.2037A>G (p.Gly679=)
n.3414A>G
 ClinVar dbSNP
2g.227293256A>TCA431506411COL4A3,MFF-DTc.3276A>T (p.Gly1092=)
c.387A>T (p.Gly129=)
n.244-11467T>A
c.3171A>T (p.Gly1057=)
c.*43A>T (n.*43A>T)
c.2037A>T (p.Gly679=)
n.3414A>T
2g.227293257C>ACA350857574COL4A3,MFF-DTc.3277C>A (p.His1093Asn)
c.388C>A (p.His130Asn)
n.244-11468G>T
c.3172C>A (p.His1058Asn)
c.*44C>A (n.*44C>A)
c.2038C>A (p.His680Asn)
n.3415C>A
2g.227293257C>GCA350857576COL4A3,MFF-DTc.3277C>G (p.His1093Asp)
c.388C>G (p.His130Asp)
n.244-11468G>C
c.3172C>G (p.His1058Asp)
c.*44C>G (n.*44C>G)
c.2038C>G (p.His680Asp)
n.3415C>G
2g.227293257C>TCA350857579COL4A3,MFF-DTc.3277C>T (p.His1093Tyr)
c.388C>T (p.His130Tyr)
n.244-11468G>A
c.3172C>T (p.His1058Tyr)
c.*44C>T (n.*44C>T)
c.2038C>T (p.His680Tyr)
n.3415C>T
 gnomAD v4
2g.227293258A=CA1332855435COL4A3,MFF-DTc.3278A= (p.His1093=)
c.389A= (p.His130=)
n.244-11469T=
c.3173A= (p.His1058=)
c.*45A= (n.*45A=)
c.2039A= (p.His680=)
n.3416A=
2g.227293258A>CCA350857582COL4A3,MFF-DTc.3278A>C (p.His1093Pro)
c.389A>C (p.His130Pro)
n.244-11469T>G
c.3173A>C (p.His1058Pro)
c.*45A>C (n.*45A>C)
c.2039A>C (p.His680Pro)
n.3416A>C
2g.227293258A>GCA350857585COL4A3,MFF-DTc.3278A>G (p.His1093Arg)
c.389A>G (p.His130Arg)
n.244-11469T>C
c.3173A>G (p.His1058Arg)
c.*45A>G (n.*45A>G)
c.2039A>G (p.His680Arg)
n.3416A>G
 dbSNP gnomAD v2 gnomAD v4
2g.227293258A>TCA350857588COL4A3,MFF-DTc.3278A>T (p.His1093Leu)
c.389A>T (p.His130Leu)
n.244-11469T>A
c.3173A>T (p.His1058Leu)
c.*45A>T (n.*45A>T)
c.2039A>T (p.His680Leu)
n.3416A>T
2g.227293259T>ACA350857592COL4A3,MFF-DTc.3279T>A (p.His1093Gln)
c.390T>A (p.His130Gln)
n.244-11470A>T
c.3174T>A (p.His1058Gln)
c.*46T>A (n.*46T>A)
c.2040T>A (p.His680Gln)
n.3417T>A
2g.227293259T>CCA2147172COL4A3,MFF-DTc.3279T>C (p.His1093=)
c.390T>C (p.His130=)
n.244-11470A>G
c.3174T>C (p.His1058=)
c.*46T>C (n.*46T>C)
c.2040T>C (p.His680=)
n.3417T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293259T>GCA350857599COL4A3,MFF-DTc.3279T>G (p.His1093Gln)
c.390T>G (p.His130Gln)
n.244-11470A>C
c.3174T>G (p.His1058Gln)
c.*46T>G (n.*46T>G)
c.2040T>G (p.His680Gln)
n.3417T>G
2g.227293259T=CA1332855436COL4A3,MFF-DTc.3279T= (p.His1093=)
c.390T= (p.His130=)
n.244-11470A=
c.3174T= (p.His1058=)
c.*46T= (n.*46T=)
c.2040T= (p.His680=)
n.3417T=
2g.227293261delCA2663419679COL4A3,MFF-DTc.3281del (p.Leu1094TrpfsTer?)
c.392del (p.Leu131TrpfsTer?)
n.244-11470del
c.3176del (p.Leu1059TrpfsTer?)
c.*48del (n.*48del)
c.2042del (p.Leu681TrpfsTer?)
n.3419del
 gnomAD v4
2g.227293260T>ACA350857602COL4A3,MFF-DTc.3280T>A (p.Leu1094Met)
c.391T>A (p.Leu131Met)
n.244-11471A>T
c.3175T>A (p.Leu1059Met)
c.*47T>A (n.*47T>A)
c.2041T>A (p.Leu681Met)
n.3418T>A
2g.227293260T>CCA431506415COL4A3,MFF-DTc.3280T>C (p.Leu1094=)
c.391T>C (p.Leu131=)
n.244-11471A>G
c.3175T>C (p.Leu1059=)
c.*47T>C (n.*47T>C)
c.2041T>C (p.Leu681=)
n.3418T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227293260T>GCA350857604COL4A3,MFF-DTc.3280T>G (p.Leu1094Val)
c.391T>G (p.Leu131Val)
n.244-11471A>C
c.3175T>G (p.Leu1059Val)
c.*47T>G (n.*47T>G)
c.2041T>G (p.Leu681Val)
n.3418T>G
2g.227293260T=CA1332855437COL4A3,MFF-DTc.3280T= (p.Leu1094=)
c.391T= (p.Leu131=)
n.244-11471A=
c.3175T= (p.Leu1059=)
c.*47T= (n.*47T=)
c.2041T= (p.Leu681=)
n.3418T=
2g.227293261T>ACA350857609COL4A3,MFF-DTc.3281T>A (p.Leu1094Ter)
c.392T>A (p.Leu131Ter)
n.244-11472A>T
c.3176T>A (p.Leu1059Ter)
c.*48T>A (n.*48T>A)
c.2042T>A (p.Leu681Ter)
n.3419T>A
2g.227293261T>CCA2147173COL4A3,MFF-DTc.3281T>C (p.Leu1094Ser)
c.392T>C (p.Leu131Ser)
n.244-11472A>G
c.3176T>C (p.Leu1059Ser)
c.*48T>C (n.*48T>C)
c.2042T>C (p.Leu681Ser)
n.3419T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227293261T>GCA350857616COL4A3,MFF-DTc.3281T>G (p.Leu1094Trp)
c.392T>G (p.Leu131Trp)
n.244-11472A>C
c.3176T>G (p.Leu1059Trp)
c.*48T>G (n.*48T>G)
c.2042T>G (p.Leu681Trp)
n.3419T>G
2g.227293261T=CA1332855438COL4A3,MFF-DTc.3281T= (p.Leu1094=)
c.392T= (p.Leu131=)
n.244-11472A=
c.3176T= (p.Leu1059=)
c.*48T= (n.*48T=)
c.2042T= (p.Leu681=)
n.3419T=
2g.227293262G>ACA431506416COL4A3,MFF-DTc.3282G>A (p.Leu1094=)
c.393G>A (p.Leu131=)
n.244-11473C>T
c.3177G>A (p.Leu1059=)
c.*49G>A (n.*49G>A)
c.2043G>A (p.Leu681=)
n.3420G>A
2g.227293262G>CCA350857618COL4A3,MFF-DTc.3282G>C (p.Leu1094Phe)
c.393G>C (p.Leu131Phe)
n.244-11473C>G
c.3177G>C (p.Leu1059Phe)
c.*49G>C (n.*49G>C)
c.2043G>C (p.Leu681Phe)
n.3420G>C
2g.227293262G>TCA350857625COL4A3,MFF-DTc.3282G>T (p.Leu1094Phe)
c.393G>T (p.Leu131Phe)
n.244-11473C>A
c.3177G>T (p.Leu1059Phe)
c.*49G>T (n.*49G>T)
c.2043G>T (p.Leu681Phe)
n.3420G>T
2g.227293262_227293282dupCA2580065950COL4A3,MFF-DTc.3282_3302dup (p.Gly1101_Ala1102insGlyProAlaGlyProGluGly)
c.393_413dup (p.Gly138_Ala139insGlyProAlaGlyProGluGly)
n.244-11493_244-11473dup
c.3177_3197dup (p.Gly1066_Ala1067insGlyProAlaGlyProGluGly)
c.*49_*69dup (n.*49_*69dup)
c.2043_2063dup (p.Gly688_Ala689insGlyProAlaGlyProGluGly)
n.3420_3440dup
 ClinVar
2g.227293263G>ACA350857630COL4A3,MFF-DTc.3283G>A (p.Gly1095Arg)
c.394G>A (p.Gly132Arg)
n.244-11474C>T
c.3178G>A (p.Gly1060Arg)
c.*50G>A (n.*50G>A)
c.2044G>A (p.Gly682Arg)
n.3421G>A
 gnomAD v4 COSMIC COSMIC
2g.227293263G>CCA350857629COL4A3,MFF-DTc.3283G>C (p.Gly1095Arg)
c.394G>C (p.Gly132Arg)
n.244-11474C>G
c.3178G>C (p.Gly1060Arg)
c.*50G>C (n.*50G>C)
c.2044G>C (p.Gly682Arg)
n.3421G>C
2g.227293263G>TCA350857628COL4A3,MFF-DTc.3283G>T (p.Gly1095Trp)
c.394G>T (p.Gly132Trp)
n.244-11474C>A
c.3178G>T (p.Gly1060Trp)
c.*50G>T (n.*50G>T)
c.2044G>T (p.Gly682Trp)
n.3421G>T
2g.227293264G>ACA350857632COL4A3,MFF-DTc.3284G>A (p.Gly1095Glu)
c.395G>A (p.Gly132Glu)
n.244-11475C>T
c.3179G>A (p.Gly1060Glu)
c.*51G>A (n.*51G>A)
c.2045G>A (p.Gly682Glu)
n.3422G>A
2g.227293264G>CCA350857636COL4A3,MFF-DTc.3284G>C (p.Gly1095Ala)
c.395G>C (p.Gly132Ala)
n.244-11475C>G
c.3179G>C (p.Gly1060Ala)
c.*51G>C (n.*51G>C)
c.2045G>C (p.Gly682Ala)
n.3422G>C
2g.227293264G>TCA350857639COL4A3,MFF-DTc.3284G>T (p.Gly1095Val)
c.395G>T (p.Gly132Val)
n.244-11475C>A
c.3179G>T (p.Gly1060Val)
c.*51G>T (n.*51G>T)
c.2045G>T (p.Gly682Val)
n.3422G>T
2g.227293265G>ACA431506420COL4A3,MFF-DTc.3285G>A (p.Gly1095=)
c.396G>A (p.Gly132=)
n.244-11476C>T
c.3180G>A (p.Gly1060=)
c.*52G>A (n.*52G>A)
c.2046G>A (p.Gly682=)
n.3423G>A
 dbSNP gnomAD v2
2g.227293265G>CCA431506421COL4A3,MFF-DTc.3285G>C (p.Gly1095=)
c.396G>C (p.Gly132=)
n.244-11476C>G
c.3180G>C (p.Gly1060=)
c.*52G>C (n.*52G>C)
c.2046G>C (p.Gly682=)
n.3423G>C
2g.227293265G=CA1332855439COL4A3,MFF-DTc.3285G= (p.Gly1095=)
c.396G= (p.Gly132=)
n.244-11476C=
c.3180G= (p.Gly1060=)
c.*52G= (n.*52G=)
c.2046G= (p.Gly682=)
n.3423G=
2g.227293265G>TCA431506422COL4A3,MFF-DTc.3285G>T (p.Gly1095=)
c.396G>T (p.Gly132=)
n.244-11476C>A
c.3180G>T (p.Gly1060=)
c.*52G>T (n.*52G>T)
c.2046G>T (p.Gly682=)
n.3423G>T
2g.227293266C>ACA350857644COL4A3,MFF-DTc.3286C>A (p.Pro1096Thr)
c.397C>A (p.Pro133Thr)
n.244-11477G>T
c.3181C>A (p.Pro1061Thr)
c.*53C>A (n.*53C>A)
c.2047C>A (p.Pro683Thr)
n.3424C>A
2g.227293266C=CA1332855440COL4A3,MFF-DTc.3286C= (p.Pro1096=)
c.397C= (p.Pro133=)
n.244-11477G=
c.3181C= (p.Pro1061=)
c.*53C= (n.*53C=)
c.2047C= (p.Pro683=)
n.3424C=
2g.227293266C>GCA350857645COL4A3,MFF-DTc.3286C>G (p.Pro1096Ala)
c.397C>G (p.Pro133Ala)
n.244-11477G>C
c.3181C>G (p.Pro1061Ala)
c.*53C>G (n.*53C>G)
c.2047C>G (p.Pro683Ala)
n.3424C>G
2g.227293266C>TCA350857660COL4A3,MFF-DTc.3286C>T (p.Pro1096Ser)
c.397C>T (p.Pro133Ser)
n.244-11477G>A
c.3181C>T (p.Pro1061Ser)
c.*53C>T (n.*53C>T)
c.2047C>T (p.Pro683Ser)
n.3424C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227293267C>ACA350857666COL4A3,MFF-DTc.3287C>A (p.Pro1096His)
c.398C>A (p.Pro133His)
n.244-11478G>T
c.3182C>A (p.Pro1061His)
c.*54C>A (n.*54C>A)
c.2048C>A (p.Pro683His)
n.3425C>A
2g.227293267C>GCA350857663COL4A3,MFF-DTc.3287C>G (p.Pro1096Arg)
c.398C>G (p.Pro133Arg)
n.244-11478G>C
c.3182C>G (p.Pro1061Arg)
c.*54C>G (n.*54C>G)
c.2048C>G (p.Pro683Arg)
n.3425C>G
2g.227293267C>TCA350857665COL4A3,MFF-DTc.3287C>T (p.Pro1096Leu)
c.398C>T (p.Pro133Leu)
n.244-11478G>A
c.3182C>T (p.Pro1061Leu)
c.*54C>T (n.*54C>T)
c.2048C>T (p.Pro683Leu)
n.3425C>T
2g.227293268T>ACA431506426COL4A3,MFF-DTc.3288T>A (p.Pro1096=)
c.399T>A (p.Pro133=)
n.244-11479A>T
c.3183T>A (p.Pro1061=)
c.*55T>A (n.*55T>A)
c.2049T>A (p.Pro683=)
n.3426T>A
2g.227293268T>CCA431506427COL4A3,MFF-DTc.3288T>C (p.Pro1096=)
c.399T>C (p.Pro133=)
n.244-11479A>G
c.3183T>C (p.Pro1061=)
c.*55T>C (n.*55T>C)
c.2049T>C (p.Pro683=)
n.3426T>C
2g.227293268T>GCA431506428COL4A3,MFF-DTc.3288T>G (p.Pro1096=)
c.399T>G (p.Pro133=)
n.244-11479A>C
c.3183T>G (p.Pro1061=)
c.*55T>G (n.*55T>G)
c.2049T>G (p.Pro683=)
n.3426T>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227293268T=CA1332855441COL4A3,MFF-DTc.3288T= (p.Pro1096=)
c.399T= (p.Pro133=)
n.244-11479A=
c.3183T= (p.Pro1061=)
c.*55T= (n.*55T=)
c.2049T= (p.Pro683=)
n.3426T=
2g.227293269G>ACA350857667COL4A3,MFF-DTc.3289G>A (p.Ala1097Thr)
c.400G>A (p.Ala134Thr)
n.244-11480C>T
c.3184G>A (p.Ala1062Thr)
c.*56G>A (n.*56G>A)
c.2050G>A (p.Ala684Thr)
n.3427G>A
2g.227293269G>CCA350857668COL4A3,MFF-DTc.3289G>C (p.Ala1097Pro)
c.400G>C (p.Ala134Pro)
n.244-11480C>G
c.3184G>C (p.Ala1062Pro)
c.*56G>C (n.*56G>C)
c.2050G>C (p.Ala684Pro)
n.3427G>C
2g.227293269G>TCA350857669COL4A3,MFF-DTc.3289G>T (p.Ala1097Ser)
c.400G>T (p.Ala134Ser)
n.244-11480C>A
c.3184G>T (p.Ala1062Ser)
c.*56G>T (n.*56G>T)
c.2050G>T (p.Ala684Ser)
n.3427G>T
2g.227293270C>ACA350857670COL4A3,MFF-DTc.3290C>A (p.Ala1097Asp)
c.401C>A (p.Ala134Asp)
n.244-11481G>T
c.3185C>A (p.Ala1062Asp)
c.*57C>A (n.*57C>A)
c.2051C>A (p.Ala684Asp)
n.3428C>A
2g.227293270C=CA1332855442COL4A3,MFF-DTc.3290C= (p.Ala1097=)
c.401C= (p.Ala134=)
n.244-11481G=
c.3185C= (p.Ala1062=)
c.*57C= (n.*57C=)
c.2051C= (p.Ala684=)
n.3428C=
2g.227293270C>GCA2147174COL4A3,MFF-DTc.3290C>G (p.Ala1097Gly)
c.401C>G (p.Ala134Gly)
n.244-11481G>C
c.3185C>G (p.Ala1062Gly)
c.*57C>G (n.*57C>G)
c.2051C>G (p.Ala684Gly)
n.3428C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293270C>TCA350857673COL4A3,MFF-DTc.3290C>T (p.Ala1097Val)
c.401C>T (p.Ala134Val)
n.244-11481G>A
c.3185C>T (p.Ala1062Val)
c.*57C>T (n.*57C>T)
c.2051C>T (p.Ala684Val)
n.3428C>T
2g.227293271T>ACA431506432COL4A3,MFF-DTc.3291T>A (p.Ala1097=)
c.402T>A (p.Ala134=)
n.244-11482A>T
c.3186T>A (p.Ala1062=)
c.*58T>A (n.*58T>A)
c.2052T>A (p.Ala684=)
n.3429T>A
2g.227293271T>CCA431506433COL4A3,MFF-DTc.3291T>C (p.Ala1097=)
c.402T>C (p.Ala134=)
n.244-11482A>G
c.3186T>C (p.Ala1062=)
c.*58T>C (n.*58T>C)
c.2052T>C (p.Ala684=)
n.3429T>C
2g.227293271T>GCA431506434COL4A3,MFF-DTc.3291T>G (p.Ala1097=)
c.402T>G (p.Ala134=)
n.244-11482A>C
c.3186T>G (p.Ala1062=)
c.*58T>G (n.*58T>G)
c.2052T>G (p.Ala684=)
n.3429T>G
2g.227293272G>ACA350857678COL4A3,MFF-DTc.3292G>A (p.Gly1098Arg)
c.403G>A (p.Gly135Arg)
n.244-11483C>T
c.3187G>A (p.Gly1063Arg)
c.*59G>A (n.*59G>A)
c.2053G>A (p.Gly685Arg)
n.3430G>A
2g.227293272G>CCA350857682COL4A3,MFF-DTc.3292G>C (p.Gly1098Arg)
c.403G>C (p.Gly135Arg)
n.244-11483C>G
c.3187G>C (p.Gly1063Arg)
c.*59G>C (n.*59G>C)
c.2053G>C (p.Gly685Arg)
n.3430G>C
2g.227293272G>TCA350857686COL4A3,MFF-DTc.3292G>T (p.Gly1098Ter)
c.403G>T (p.Gly135Ter)
n.244-11483C>A
c.3187G>T (p.Gly1063Ter)
c.*59G>T (n.*59G>T)
c.2053G>T (p.Gly685Ter)
n.3430G>T
 ClinVar
2g.227293273G>ACA350857692COL4A3,MFF-DTc.3293G>A (p.Gly1098Glu)
c.404G>A (p.Gly135Glu)
n.244-11484C>T
c.3188G>A (p.Gly1063Glu)
c.*60G>A (n.*60G>A)
c.2054G>A (p.Gly685Glu)
n.3431G>A
2g.227293273G>CCA350857694COL4A3,MFF-DTc.3293G>C (p.Gly1098Ala)
c.404G>C (p.Gly135Ala)
n.244-11484C>G
c.3188G>C (p.Gly1063Ala)
c.*60G>C (n.*60G>C)
c.2054G>C (p.Gly685Ala)
n.3431G>C
2g.227293273G>TCA350857696COL4A3,MFF-DTc.3293G>T (p.Gly1098Val)
c.404G>T (p.Gly135Val)
n.244-11484C>A
c.3188G>T (p.Gly1063Val)
c.*60G>T (n.*60G>T)
c.2054G>T (p.Gly685Val)
n.3431G>T
2g.227293274A=CA1332855443COL4A3,MFF-DTc.3294A= (p.Gly1098=)
c.405A= (p.Gly135=)
n.244-11485T=
c.3189A= (p.Gly1063=)
c.*61A= (n.*61A=)
c.2055A= (p.Gly685=)
n.3432A=
2g.227293274A>CCA431506435COL4A3,MFF-DTc.3294A>C (p.Gly1098=)
c.405A>C (p.Gly135=)
n.244-11485T>G
c.3189A>C (p.Gly1063=)
c.*61A>C (n.*61A>C)
c.2055A>C (p.Gly685=)
n.3432A>C
2g.227293274A>GCA2147175COL4A3,MFF-DTc.3294A>G (p.Gly1098=)
c.405A>G (p.Gly135=)
n.244-11485T>C
c.3189A>G (p.Gly1063=)
c.*61A>G (n.*61A>G)
c.2055A>G (p.Gly685=)
n.3432A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293274A>TCA431506436COL4A3,MFF-DTc.3294A>T (p.Gly1098=)
c.405A>T (p.Gly135=)
n.244-11485T>A
c.3189A>T (p.Gly1063=)
c.*61A>T (n.*61A>T)
c.2055A>T (p.Gly685=)
n.3432A>T
 COSMIC COSMIC
2g.227293275C>ACA350857697COL4A3,MFF-DTc.3295C>A (p.Pro1099Thr)
c.406C>A (p.Pro136Thr)
n.244-11486G>T
c.3190C>A (p.Pro1064Thr)
c.*62C>A (n.*62C>A)
c.2056C>A (p.Pro686Thr)
n.3433C>A
2g.227293275C>GCA350857700COL4A3,MFF-DTc.3295C>G (p.Pro1099Ala)
c.406C>G (p.Pro136Ala)
n.244-11486G>C
c.3190C>G (p.Pro1064Ala)
c.*62C>G (n.*62C>G)
c.2056C>G (p.Pro686Ala)
n.3433C>G
2g.227293275C>TCA350857698COL4A3,MFF-DTc.3295C>T (p.Pro1099Ser)
c.406C>T (p.Pro136Ser)
n.244-11486G>A
c.3190C>T (p.Pro1064Ser)
c.*62C>T (n.*62C>T)
c.2056C>T (p.Pro686Ser)
n.3433C>T
 gnomAD v4
2g.227293276C>ACA350857703COL4A3,MFF-DTc.3296C>A (p.Pro1099His)
c.407C>A (p.Pro136His)
n.244-11487G>T
c.3191C>A (p.Pro1064His)
c.*63C>A (n.*63C>A)
c.2057C>A (p.Pro686His)
n.3434C>A
2g.227293276C=CA1332855444COL4A3,MFF-DTc.3296C= (p.Pro1099=)
c.407C= (p.Pro136=)
n.244-11487G=
c.3191C= (p.Pro1064=)
c.*63C= (n.*63C=)
c.2057C= (p.Pro686=)
n.3434C=
2g.227293276C>GCA350857712COL4A3,MFF-DTc.3296C>G (p.Pro1099Arg)
c.407C>G (p.Pro136Arg)
n.244-11487G>C
c.3191C>G (p.Pro1064Arg)
c.*63C>G (n.*63C>G)
c.2057C>G (p.Pro686Arg)
n.3434C>G
2g.227293276C>TCA350857715COL4A3,MFF-DTc.3296C>T (p.Pro1099Leu)
c.407C>T (p.Pro136Leu)
n.244-11487G>A
c.3191C>T (p.Pro1064Leu)
c.*63C>T (n.*63C>T)
c.2057C>T (p.Pro686Leu)
n.3434C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227293277T>ACA431506440COL4A3,MFF-DTc.3297T>A (p.Pro1099=)
c.408T>A (p.Pro136=)
n.244-11488A>T
c.3192T>A (p.Pro1064=)
c.*64T>A (n.*64T>A)
c.2058T>A (p.Pro686=)
n.3435T>A
2g.227293277T>CCA431506441COL4A3,MFF-DTc.3297T>C (p.Pro1099=)
c.408T>C (p.Pro136=)
n.244-11488A>G
c.3192T>C (p.Pro1064=)
c.*64T>C (n.*64T>C)
c.2058T>C (p.Pro686=)
n.3435T>C
 dbSNP gnomAD v4
2g.227293277T>GCA431506442COL4A3,MFF-DTc.3297T>G (p.Pro1099=)
c.408T>G (p.Pro136=)
n.244-11488A>C
c.3192T>G (p.Pro1064=)
c.*64T>G (n.*64T>G)
c.2058T>G (p.Pro686=)
n.3435T>G
2g.227293277T=CA1332855445COL4A3,MFF-DTc.3297T= (p.Pro1099=)
c.408T= (p.Pro136=)
n.244-11488A=
c.3192T= (p.Pro1064=)
c.*64T= (n.*64T=)
c.2058T= (p.Pro686=)
n.3435T=
2g.227293278G>ACA66608163COL4A3,MFF-DTc.3298G>A (p.Glu1100Lys)
c.409G>A (p.Glu137Lys)
n.244-11489C>T
c.3193G>A (p.Glu1065Lys)
c.*65G>A (n.*65G>A)
c.2059G>A (p.Glu687Lys)
n.3436G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227293278G>CCA350857719COL4A3,MFF-DTc.3298G>C (p.Glu1100Gln)
c.409G>C (p.Glu137Gln)
n.244-11489C>G
c.3193G>C (p.Glu1065Gln)
c.*65G>C (n.*65G>C)
c.2059G>C (p.Glu687Gln)
n.3436G>C
2g.227293278G=CA1332855446COL4A3,MFF-DTc.3298G= (p.Glu1100=)
c.409G= (p.Glu137=)
n.244-11489C=
c.3193G= (p.Glu1065=)
c.*65G= (n.*65G=)
c.2059G= (p.Glu687=)
n.3436G=
2g.227293278G>TCA350857730COL4A3,MFF-DTc.3298G>T (p.Glu1100Ter)
c.409G>T (p.Glu137Ter)
n.244-11489C>A
c.3193G>T (p.Glu1065Ter)
c.*65G>T (n.*65G>T)
c.2059G>T (p.Glu687Ter)
n.3436G>T
 gnomAD v4
2g.227293279A>CCA350857748COL4A3,MFF-DTc.3299A>C (p.Glu1100Ala)
c.410A>C (p.Glu137Ala)
n.244-11490T>G
c.3194A>C (p.Glu1065Ala)
c.*66A>C (n.*66A>C)
c.2060A>C (p.Glu687Ala)
n.3437A>C
2g.227293279A>GCA350857735COL4A3,MFF-DTc.3299A>G (p.Glu1100Gly)
c.410A>G (p.Glu137Gly)
n.244-11490T>C
c.3194A>G (p.Glu1065Gly)
c.*66A>G (n.*66A>G)
c.2060A>G (p.Glu687Gly)
n.3437A>G
2g.227293279A>TCA350857742COL4A3,MFF-DTc.3299A>T (p.Glu1100Val)
c.410A>T (p.Glu137Val)
n.244-11490T>A
c.3194A>T (p.Glu1065Val)
c.*66A>T (n.*66A>T)
c.2060A>T (p.Glu687Val)
n.3437A>T
2g.227293280G>ACA431506445COL4A3,MFF-DTc.3300G>A (p.Glu1100=)
c.411G>A (p.Glu137=)
n.244-11491C>T
c.3195G>A (p.Glu1065=)
c.*67G>A (n.*67G>A)
c.2061G>A (p.Glu687=)
n.3438G>A
2g.227293280G>CCA350857751COL4A3,MFF-DTc.3300G>C (p.Glu1100Asp)
c.411G>C (p.Glu137Asp)
n.244-11491C>G
c.3195G>C (p.Glu1065Asp)
c.*67G>C (n.*67G>C)
c.2061G>C (p.Glu687Asp)
n.3438G>C
2g.227293280G>TCA350857758COL4A3,MFF-DTc.3300G>T (p.Glu1100Asp)
c.411G>T (p.Glu137Asp)
n.244-11491C>A
c.3195G>T (p.Glu1065Asp)
c.*67G>T (n.*67G>T)
c.2061G>T (p.Glu687Asp)
n.3438G>T
2g.227293281G>ACA350857760COL4A3,MFF-DTc.3301G>A (p.Gly1101Arg)
c.412G>A (p.Gly138Arg)
n.244-11492C>T
c.3196G>A (p.Gly1066Arg)
c.*68G>A (n.*68G>A)
c.2062G>A (p.Gly688Arg)
n.3439G>A
 gnomAD v4
2g.227293281G>CCA350857769COL4A3,MFF-DTc.3301G>C (p.Gly1101Arg)
c.412G>C (p.Gly138Arg)
n.244-11492C>G
c.3196G>C (p.Gly1066Arg)
c.*68G>C (n.*68G>C)
c.2062G>C (p.Gly688Arg)
n.3439G>C
2g.227293281G>TCA350857771COL4A3,MFF-DTc.3301G>T (p.Gly1101Ter)
c.412G>T (p.Gly138Ter)
n.244-11492C>A
c.3196G>T (p.Gly1066Ter)
c.*68G>T (n.*68G>T)
c.2062G>T (p.Gly688Ter)
n.3439G>T
2g.227293282G>ACA2147176COL4A3,MFF-DTc.3302G>A (p.Gly1101Glu)
c.413G>A (p.Gly138Glu)
n.244-11493C>T
c.3197G>A (p.Gly1066Glu)
c.*69G>A (n.*69G>A)
c.2063G>A (p.Gly688Glu)
n.3440G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293282G>CCA350857786COL4A3,MFF-DTc.3302G>C (p.Gly1101Ala)
c.413G>C (p.Gly138Ala)
n.244-11493C>G
c.3197G>C (p.Gly1066Ala)
c.*69G>C (n.*69G>C)
c.2063G>C (p.Gly688Ala)
n.3440G>C
2g.227293282G=CA1332855447COL4A3,MFF-DTc.3302G= (p.Gly1101=)
c.413G= (p.Gly138=)
n.244-11493C=
c.3197G= (p.Gly1066=)
c.*69G= (n.*69G=)
c.2063G= (p.Gly688=)
n.3440G=
2g.227293282G>TCA350857784COL4A3,MFF-DTc.3302G>T (p.Gly1101Val)
c.413G>T (p.Gly138Val)
n.244-11493C>A
c.3197G>T (p.Gly1066Val)
c.*69G>T (n.*69G>T)
c.2063G>T (p.Gly688Val)
n.3440G>T
2g.227293283A>CCA431506446COL4A3,MFF-DTc.3303A>C (p.Gly1101=)
c.414A>C (p.Gly138=)
n.244-11494T>G
c.3198A>C (p.Gly1066=)
c.*70A>C (n.*70A>C)
c.2064A>C (p.Gly688=)
n.3441A>C
 ClinVar
2g.227293283A>GCA431506447COL4A3,MFF-DTc.3303A>G (p.Gly1101=)
c.414A>G (p.Gly138=)
n.244-11494T>C
c.3198A>G (p.Gly1066=)
c.*70A>G (n.*70A>G)
c.2064A>G (p.Gly688=)
n.3441A>G
2g.227293283A>TCA431506448COL4A3,MFF-DTc.3303A>T (p.Gly1101=)
c.414A>T (p.Gly138=)
n.244-11494T>A
c.3198A>T (p.Gly1066=)
c.*70A>T (n.*70A>T)
c.2064A>T (p.Gly688=)
n.3441A>T
2g.227293284G>ACA2147177COL4A3,MFF-DTc.3304G>A (p.Ala1102Thr)
c.415G>A (p.Ala139Thr)
n.244-11495C>T
c.3199G>A (p.Ala1067Thr)
c.*71G>A (n.*71G>A)
c.2065G>A (p.Ala689Thr)
n.3442G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293284G>CCA350857797COL4A3,MFF-DTc.3304G>C (p.Ala1102Pro)
c.415G>C (p.Ala139Pro)
n.244-11495C>G
c.3199G>C (p.Ala1067Pro)
c.*71G>C (n.*71G>C)
c.2065G>C (p.Ala689Pro)
n.3442G>C
2g.227293284G=CA1332855448COL4A3,MFF-DTc.3304G= (p.Ala1102=)
c.415G= (p.Ala139=)
n.244-11495C=
c.3199G= (p.Ala1067=)
c.*71G= (n.*71G=)
c.2065G= (p.Ala689=)
n.3442G=
2g.227293284G>TCA350857807COL4A3,MFF-DTc.3304G>T (p.Ala1102Ser)
c.415G>T (p.Ala139Ser)
n.244-11495C>A
c.3199G>T (p.Ala1067Ser)
c.*71G>T (n.*71G>T)
c.2065G>T (p.Ala689Ser)
n.3442G>T
2g.227293285C>ACA350857810COL4A3,MFF-DTc.3305C>A (p.Ala1102Asp)
c.416C>A (p.Ala139Asp)
n.244-11496G>T
c.3200C>A (p.Ala1067Asp)
c.*72C>A (n.*72C>A)
c.2066C>A (p.Ala689Asp)
n.3443C>A
 dbSNP gnomAD v2 gnomAD v4
2g.227293285C=CA1332855449COL4A3,MFF-DTc.3305C= (p.Ala1102=)
c.416C= (p.Ala139=)
n.244-11496G=
c.3200C= (p.Ala1067=)
c.*72C= (n.*72C=)
c.2066C= (p.Ala689=)
n.3443C=
2g.227293285C>GCA350857816COL4A3,MFF-DTc.3305C>G (p.Ala1102Gly)
c.416C>G (p.Ala139Gly)
n.244-11496G>C
c.3200C>G (p.Ala1067Gly)
c.*72C>G (n.*72C>G)
c.2066C>G (p.Ala689Gly)
n.3443C>G
 dbSNP
2g.227293285C>TCA350857818COL4A3,MFF-DTc.3305C>T (p.Ala1102Val)
c.416C>T (p.Ala139Val)
n.244-11496G>A
c.3200C>T (p.Ala1067Val)
c.*72C>T (n.*72C>T)
c.2066C>T (p.Ala689Val)
n.3443C>T
 gnomAD v4
2g.227293286C>ACA431506451COL4A3,MFF-DTc.3306C>A (p.Ala1102=)
c.417C>A (p.Ala139=)
n.244-11497G>T
c.3201C>A (p.Ala1067=)
c.*73C>A (n.*73C>A)
c.2067C>A (p.Ala689=)
n.3444C>A
2g.227293286C=CA1332855451COL4A3,MFF-DTc.3306C= (p.Ala1102=)
c.417C= (p.Ala139=)
n.244-11497G=
c.3201C= (p.Ala1067=)
c.*73C= (n.*73C=)
c.2067C= (p.Ala689=)
n.3444C=
2g.227293286C>GCA431506452COL4A3,MFF-DTc.3306C>G (p.Ala1102=)
c.417C>G (p.Ala139=)
n.244-11497G>C
c.3201C>G (p.Ala1067=)
c.*73C>G (n.*73C>G)
c.2067C>G (p.Ala689=)
n.3444C>G
2g.227293286C>TCA431506453COL4A3,MFF-DTc.3306C>T (p.Ala1102=)
c.417C>T (p.Ala139=)
n.244-11497G>A
c.3201C>T (p.Ala1067=)
c.*73C>T (n.*73C>T)
c.2067C>T (p.Ala689=)
n.3444C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227293286_227293295delinsCCCTGGAAGTCA1332855450COL4A3,MFF-DTc.3306_3315delinsCCCTGGAAGT (p.Ala1102=)
c.417_426delinsCCCTGGAAGT (p.Ala139=)
n.244-11506_244-11497delinsACTTCCAGGG
c.3201_3210delinsCCCTGGAAGT (p.Ala1067=)
c.*73_*82delinsCCCTGGAAGT (n.*73_*82delinsCCCTGGAAGT)
c.2067_2076delinsCCCTGGAAGT (p.Ala689=)
n.3444_3453delinsCCCTGGAAGT
2g.227293288_227293297delCA913089974COL4A3,MFF-DTc.3308_3317del (p.Pro1103LeufsTer?)
c.419_428del (p.Pro140LeufsTer?)
n.244-11506_244-11497del
c.3203_3212del (p.Pro1068LeufsTer?)
c.*75_*84del (n.*75_*84del)
c.2069_2078del (p.Pro690LeufsTer?)
n.3446_3455del
2g.227293287C>ACA350857821COL4A3,MFF-DTc.3307C>A (p.Pro1103Thr)
c.418C>A (p.Pro140Thr)
n.244-11498G>T
c.3202C>A (p.Pro1068Thr)
c.*74C>A (n.*74C>A)
c.2068C>A (p.Pro690Thr)
n.3445C>A
2g.227293287C>GCA350857827COL4A3,MFF-DTc.3307C>G (p.Pro1103Ala)
c.418C>G (p.Pro140Ala)
n.244-11498G>C
c.3202C>G (p.Pro1068Ala)
c.*74C>G (n.*74C>G)
c.2068C>G (p.Pro690Ala)
n.3445C>G
2g.227293287C>TCA350857829COL4A3,MFF-DTc.3307C>T (p.Pro1103Ser)
c.418C>T (p.Pro140Ser)
n.244-11498G>A
c.3202C>T (p.Pro1068Ser)
c.*74C>T (n.*74C>T)
c.2068C>T (p.Pro690Ser)
n.3445C>T
2g.227293301_227293309dupCA1332855452COL4A3,MFF-DTc.3321_3329dup (p.Gly1110_Leu1111insSerProGly)
c.432_440dup (p.Gly147_Leu148insSerProGly)
n.244-11506_244-11498dup
c.3216_3224dup (p.Gly1075_Leu1076insSerProGly)
c.*88_*96dup (n.*88_*96dup)
c.2082_2090dup (p.Gly697_Leu698insSerProGly)
n.3459_3467dup
 dbSNP gnomAD v4
2g.227293301_227293309delCA2147178COL4A3,MFF-DTc.3321_3329del (p.Ser1108_Gly1110del)
c.432_440del (p.Ser145_Gly147del)
n.244-11506_244-11498del
c.3216_3224del (p.Ser1073_Gly1075del)
c.*88_*96del (n.*88_*96del)
c.2082_2090del (p.Ser695_Gly697del)
n.3459_3467del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293288C>ACA350857833COL4A3,MFF-DTc.3308C>A (p.Pro1103His)
c.419C>A (p.Pro140His)
n.244-11499G>T
c.3203C>A (p.Pro1068His)
c.*75C>A (n.*75C>A)
c.2069C>A (p.Pro690His)
n.3446C>A
2g.227293288C>GCA350857847COL4A3,MFF-DTc.3308C>G (p.Pro1103Arg)
c.419C>G (p.Pro140Arg)
n.244-11499G>C
c.3203C>G (p.Pro1068Arg)
c.*75C>G (n.*75C>G)
c.2069C>G (p.Pro690Arg)
n.3446C>G
2g.227293288C>TCA350857844COL4A3,MFF-DTc.3308C>T (p.Pro1103Leu)
c.419C>T (p.Pro140Leu)
n.244-11499G>A
c.3203C>T (p.Pro1068Leu)
c.*75C>T (n.*75C>T)
c.2069C>T (p.Pro690Leu)
n.3446C>T
2g.227293289T>ACA431506456COL4A3,MFF-DTc.3309T>A (p.Pro1103=)
c.420T>A (p.Pro140=)
n.244-11500A>T
c.3204T>A (p.Pro1068=)
c.*76T>A (n.*76T>A)
c.2070T>A (p.Pro690=)
n.3447T>A
2g.227293289T>CCA431506457COL4A3,MFF-DTc.3309T>C (p.Pro1103=)
c.420T>C (p.Pro140=)
n.244-11500A>G
c.3204T>C (p.Pro1068=)
c.*76T>C (n.*76T>C)
c.2070T>C (p.Pro690=)
n.3447T>C
2g.227293289T>GCA431506459COL4A3,MFF-DTc.3309T>G (p.Pro1103=)
c.420T>G (p.Pro140=)
n.244-11500A>C
c.3204T>G (p.Pro1068=)
c.*76T>G (n.*76T>G)
c.2070T>G (p.Pro690=)
n.3447T>G
2g.227293290G>ACA350857848COL4A3,MFF-DTc.3310G>A (p.Gly1104Arg)
c.421G>A (p.Gly141Arg)
n.244-11501C>T
c.3205G>A (p.Gly1069Arg)
c.*77G>A (n.*77G>A)
c.2071G>A (p.Gly691Arg)
n.3448G>A
2g.227293290G>CCA2147179COL4A3,MFF-DTc.3310G>C (p.Gly1104Arg)
c.421G>C (p.Gly141Arg)
n.244-11501C>G
c.3205G>C (p.Gly1069Arg)
c.*77G>C (n.*77G>C)
c.2071G>C (p.Gly691Arg)
n.3448G>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293290G=CA1332855453COL4A3,MFF-DTc.3310G= (p.Gly1104=)
c.421G= (p.Gly141=)
n.244-11501C=
c.3205G= (p.Gly1069=)
c.*77G= (n.*77G=)
c.2071G= (p.Gly691=)
n.3448G=
2g.227293290G>TCA350857849COL4A3,MFF-DTc.3310G>T (p.Gly1104Ter)
c.421G>T (p.Gly141Ter)
n.244-11501C>A
c.3205G>T (p.Gly1069Ter)
c.*77G>T (n.*77G>T)
c.2071G>T (p.Gly691Ter)
n.3448G>T
2g.227293291G>ACA350857850COL4A3,MFF-DTc.3311G>A (p.Gly1104Glu)
c.422G>A (p.Gly141Glu)
n.244-11502C>T
c.3206G>A (p.Gly1069Glu)
c.*78G>A (n.*78G>A)
c.2072G>A (p.Gly691Glu)
n.3449G>A
2g.227293291G>CCA350857854COL4A3,MFF-DTc.3311G>C (p.Gly1104Ala)
c.422G>C (p.Gly141Ala)
n.244-11502C>G
c.3206G>C (p.Gly1069Ala)
c.*78G>C (n.*78G>C)
c.2072G>C (p.Gly691Ala)
n.3449G>C
 gnomAD v4
2g.227293291G>TCA350857852COL4A3,MFF-DTc.3311G>T (p.Gly1104Val)
c.422G>T (p.Gly141Val)
n.244-11502C>A
c.3206G>T (p.Gly1069Val)
c.*78G>T (n.*78G>T)
c.2072G>T (p.Gly691Val)
n.3449G>T
2g.227293292A>CCA431506460COL4A3,MFF-DTc.3312A>C (p.Gly1104=)
c.423A>C (p.Gly141=)
n.244-11503T>G
c.3207A>C (p.Gly1069=)
c.*79A>C (n.*79A>C)
c.2073A>C (p.Gly691=)
n.3450A>C
2g.227293292A>GCA431506461COL4A3,MFF-DTc.3312A>G (p.Gly1104=)
c.423A>G (p.Gly141=)
n.244-11503T>C
c.3207A>G (p.Gly1069=)
c.*79A>G (n.*79A>G)
c.2073A>G (p.Gly691=)
n.3450A>G
2g.227293292A>TCA431506462COL4A3,MFF-DTc.3312A>T (p.Gly1104=)
c.423A>T (p.Gly141=)
n.244-11503T>A
c.3207A>T (p.Gly1069=)
c.*79A>T (n.*79A>T)
c.2073A>T (p.Gly691=)
n.3450A>T
2g.227293293A>CCA350857860COL4A3,MFF-DTc.3313A>C (p.Ser1105Arg)
c.424A>C (p.Ser142Arg)
n.244-11504T>G
c.3208A>C (p.Ser1070Arg)
c.*80A>C (n.*80A>C)
c.2074A>C (p.Ser692Arg)
n.3451A>C
2g.227293293A>GCA350857865COL4A3,MFF-DTc.3313A>G (p.Ser1105Gly)
c.424A>G (p.Ser142Gly)
n.244-11504T>C
c.3208A>G (p.Ser1070Gly)
c.*80A>G (n.*80A>G)
c.2074A>G (p.Ser692Gly)
n.3451A>G
2g.227293293A>TCA350857862COL4A3,MFF-DTc.3313A>T (p.Ser1105Cys)
c.424A>T (p.Ser142Cys)
n.244-11504T>A
c.3208A>T (p.Ser1070Cys)
c.*80A>T (n.*80A>T)
c.2074A>T (p.Ser692Cys)
n.3451A>T
2g.227293294G>ACA2147180COL4A3,MFF-DTc.3314G>A (p.Ser1105Asn)
c.425G>A (p.Ser142Asn)
n.244-11505C>T
c.3209G>A (p.Ser1070Asn)
c.*81G>A (n.*81G>A)
c.2075G>A (p.Ser692Asn)
n.3452G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293294G>CCA350857870COL4A3,MFF-DTc.3314G>C (p.Ser1105Thr)
c.425G>C (p.Ser142Thr)
n.244-11505C>G
c.3209G>C (p.Ser1070Thr)
c.*81G>C (n.*81G>C)
c.2075G>C (p.Ser692Thr)
n.3452G>C
2g.227293294G=CA1332855454COL4A3,MFF-DTc.3314G= (p.Ser1105=)
c.425G= (p.Ser142=)
n.244-11505C=
c.3209G= (p.Ser1070=)
c.*81G= (n.*81G=)
c.2075G= (p.Ser692=)
n.3452G=
2g.227293294G>TCA350857876COL4A3,MFF-DTc.3314G>T (p.Ser1105Ile)
c.425G>T (p.Ser142Ile)
n.244-11505C>A
c.3209G>T (p.Ser1070Ile)
c.*81G>T (n.*81G>T)
c.2075G>T (p.Ser692Ile)
n.3452G>T
2g.227293295T>ACA350857881COL4A3,MFF-DTc.3315T>A (p.Ser1105Arg)
c.426T>A (p.Ser142Arg)
n.244-11506A>T
c.3210T>A (p.Ser1070Arg)
c.*82T>A (n.*82T>A)
c.2076T>A (p.Ser692Arg)
n.3453T>A
2g.227293295T>CCA431506466COL4A3,MFF-DTc.3315T>C (p.Ser1105=)
c.426T>C (p.Ser142=)
n.244-11506A>G
c.3210T>C (p.Ser1070=)
c.*82T>C (n.*82T>C)
c.2076T>C (p.Ser692=)
n.3453T>C
2g.227293295T>GCA350857884COL4A3,MFF-DTc.3315T>G (p.Ser1105Arg)
c.426T>G (p.Ser142Arg)
n.244-11506A>C
c.3210T>G (p.Ser1070Arg)
c.*82T>G (n.*82T>G)
c.2076T>G (p.Ser692Arg)
n.3453T>G
2g.227293296C>ACA350857889COL4A3,MFF-DTc.3316C>A (p.Pro1106Thr)
c.427C>A (p.Pro143Thr)
n.244-11507G>T
c.3211C>A (p.Pro1071Thr)
c.*83C>A (n.*83C>A)
c.2077C>A (p.Pro693Thr)
n.3454C>A
2g.227293296C>GCA350857887COL4A3,MFF-DTc.3316C>G (p.Pro1106Ala)
c.427C>G (p.Pro143Ala)
n.244-11507G>C
c.3211C>G (p.Pro1071Ala)
c.*83C>G (n.*83C>G)
c.2077C>G (p.Pro693Ala)
n.3454C>G
2g.227293296C>TCA350857886COL4A3,MFF-DTc.3316C>T (p.Pro1106Ser)
c.427C>T (p.Pro143Ser)
n.244-11507G>A
c.3211C>T (p.Pro1071Ser)
c.*83C>T (n.*83C>T)
c.2077C>T (p.Pro693Ser)
n.3454C>T
2g.227293297C>ACA350857890COL4A3,MFF-DTc.3317C>A (p.Pro1106His)
c.428C>A (p.Pro143His)
n.244-11508G>T
c.3212C>A (p.Pro1071His)
c.*84C>A (n.*84C>A)
c.2078C>A (p.Pro693His)
n.3455C>A
2g.227293297C>GCA350857891COL4A3,MFF-DTc.3317C>G (p.Pro1106Arg)
c.428C>G (p.Pro143Arg)
n.244-11508G>C
c.3212C>G (p.Pro1071Arg)
c.*84C>G (n.*84C>G)
c.2078C>G (p.Pro693Arg)
n.3455C>G
2g.227293297C>TCA350857893COL4A3,MFF-DTc.3317C>T (p.Pro1106Leu)
c.428C>T (p.Pro143Leu)
n.244-11508G>A
c.3212C>T (p.Pro1071Leu)
c.*84C>T (n.*84C>T)
c.2078C>T (p.Pro693Leu)
n.3455C>T
2g.227293298T>ACA431506470COL4A3,MFF-DTc.3318T>A (p.Pro1106=)
c.429T>A (p.Pro143=)
n.244-11509A>T
c.3213T>A (p.Pro1071=)
c.*85T>A (n.*85T>A)
c.2079T>A (p.Pro693=)
n.3456T>A
2g.227293298T>CCA431506467COL4A3,MFF-DTc.3318T>C (p.Pro1106=)
c.429T>C (p.Pro143=)
n.244-11509A>G
c.3213T>C (p.Pro1071=)
c.*85T>C (n.*85T>C)
c.2079T>C (p.Pro693=)
n.3456T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227293298T>GCA431506469COL4A3,MFF-DTc.3318T>G (p.Pro1106=)
c.429T>G (p.Pro143=)
n.244-11509A>C
c.3213T>G (p.Pro1071=)
c.*85T>G (n.*85T>G)
c.2079T>G (p.Pro693=)
n.3456T>G
 ClinVar gnomAD v4
2g.227293298T=CA1332855455COL4A3,MFF-DTc.3318T= (p.Pro1106=)
c.429T= (p.Pro143=)
n.244-11509A=
c.3213T= (p.Pro1071=)
c.*85T= (n.*85T=)
c.2079T= (p.Pro693=)
n.3456T=
2g.227293299G>ACA350857895COL4A3,MFF-DTc.3319G>A (p.Gly1107Arg)
c.430G>A (p.Gly144Arg)
n.244-11510C>T
c.3214G>A (p.Gly1072Arg)
c.*86G>A (n.*86G>A)
c.2080G>A (p.Gly694Arg)
n.3457G>A
2g.227293299G>CCA350857896COL4A3,MFF-DTc.3319G>C (p.Gly1107Arg)
c.430G>C (p.Gly144Arg)
n.244-11510C>G
c.3214G>C (p.Gly1072Arg)
c.*86G>C (n.*86G>C)
c.2080G>C (p.Gly694Arg)
n.3457G>C
2g.227293299G>TCA350857908COL4A3,MFF-DTc.3319G>T (p.Gly1107Ter)
c.430G>T (p.Gly144Ter)
n.244-11510C>A
c.3214G>T (p.Gly1072Ter)
c.*86G>T (n.*86G>T)
c.2080G>T (p.Gly694Ter)
n.3457G>T
2g.227293300G>ACA350857911COL4A3,MFF-DTc.3320G>A (p.Gly1107Glu)
c.431G>A (p.Gly144Glu)
n.244-11511C>T
c.3215G>A (p.Gly1072Glu)
c.*87G>A (n.*87G>A)
c.2081G>A (p.Gly694Glu)
n.3458G>A
2g.227293300G>CCA350857917COL4A3,MFF-DTc.3320G>C (p.Gly1107Ala)
c.431G>C (p.Gly144Ala)
n.244-11511C>G
c.3215G>C (p.Gly1072Ala)
c.*87G>C (n.*87G>C)
c.2081G>C (p.Gly694Ala)
n.3458G>C
2g.227293300G>TCA350857914COL4A3,MFF-DTc.3320G>T (p.Gly1107Val)
c.431G>T (p.Gly144Val)
n.244-11511C>A
c.3215G>T (p.Gly1072Val)
c.*87G>T (n.*87G>T)
c.2081G>T (p.Gly694Val)
n.3458G>T
2g.227293301A>CCA431506472COL4A3,MFF-DTc.3321A>C (p.Gly1107=)
c.432A>C (p.Gly144=)
n.244-11512T>G
c.3216A>C (p.Gly1072=)
c.*88A>C (n.*88A>C)
c.2082A>C (p.Gly694=)
n.3459A>C
2g.227293301A>GCA431506473COL4A3,MFF-DTc.3321A>G (p.Gly1107=)
c.432A>G (p.Gly144=)
n.244-11512T>C
c.3216A>G (p.Gly1072=)
c.*88A>G (n.*88A>G)
c.2082A>G (p.Gly694=)
n.3459A>G
 ClinVar dbSNP
2g.227293301A>TCA431506471COL4A3,MFF-DTc.3321A>T (p.Gly1107=)
c.432A>T (p.Gly144=)
n.244-11512T>A
c.3216A>T (p.Gly1072=)
c.*88A>T (n.*88A>T)
c.2082A>T (p.Gly694=)
n.3459A>T
2g.227293302A>CCA350857918COL4A3,MFF-DTc.3322A>C (p.Ser1108Arg)
c.433A>C (p.Ser145Arg)
n.244-11513T>G
c.3217A>C (p.Ser1073Arg)
c.*89A>C (n.*89A>C)
c.2083A>C (p.Ser695Arg)
n.3460A>C
2g.227293302A>GCA350857919COL4A3,MFF-DTc.3322A>G (p.Ser1108Gly)
c.433A>G (p.Ser145Gly)
n.244-11513T>C
c.3217A>G (p.Ser1073Gly)
c.*89A>G (n.*89A>G)
c.2083A>G (p.Ser695Gly)
n.3460A>G
2g.227293302A>TCA350857920COL4A3,MFF-DTc.3322A>T (p.Ser1108Cys)
c.433A>T (p.Ser145Cys)
n.244-11513T>A
c.3217A>T (p.Ser1073Cys)
c.*89A>T (n.*89A>T)
c.2083A>T (p.Ser695Cys)
n.3460A>T
2g.227293303G>ACA350857922COL4A3,MFF-DTc.3323G>A (p.Ser1108Asn)
c.434G>A (p.Ser145Asn)
n.244-11514C>T
c.3218G>A (p.Ser1073Asn)
c.*90G>A (n.*90G>A)
c.2084G>A (p.Ser695Asn)
n.3461G>A
 dbSNP
2g.227293303G>CCA350857925COL4A3,MFF-DTc.3323G>C (p.Ser1108Thr)
c.434G>C (p.Ser145Thr)
n.244-11514C>G
c.3218G>C (p.Ser1073Thr)
c.*90G>C (n.*90G>C)
c.2084G>C (p.Ser695Thr)
n.3461G>C
2g.227293303G=CA1332855456COL4A3,MFF-DTc.3323G= (p.Ser1108=)
c.434G= (p.Ser145=)
n.244-11514C=
c.3218G= (p.Ser1073=)
c.*90G= (n.*90G=)
c.2084G= (p.Ser695=)
n.3461G=
2g.227293303G>TCA350857928COL4A3,MFF-DTc.3323G>T (p.Ser1108Ile)
c.434G>T (p.Ser145Ile)
n.244-11514C>A
c.3218G>T (p.Ser1073Ile)
c.*90G>T (n.*90G>T)
c.2084G>T (p.Ser695Ile)
n.3461G>T
 ClinVar dbSNP
2g.227293303_227293305dupCA2663419681COL4A3,MFF-DTc.3323_3325dup (p.Ser1108_Pro1109insArg)
c.434_436dup (p.Ser145_Pro146insArg)
n.244-11516_244-11514dup
c.3218_3220dup (p.Ser1073_Pro1074insArg)
c.*90_*92dup (n.*90_*92dup)
c.2084_2086dup (p.Ser695_Pro696insArg)
n.3461_3463dup
 gnomAD v4
2g.227293304T>ACA350857934COL4A3,MFF-DTc.3324T>A (p.Ser1108Arg)
c.435T>A (p.Ser145Arg)
n.244-11515A>T
c.3219T>A (p.Ser1073Arg)
c.*91T>A (n.*91T>A)
c.2085T>A (p.Ser695Arg)
n.3462T>A
2g.227293304T>CCA431506477COL4A3,MFF-DTc.3324T>C (p.Ser1108=)
c.435T>C (p.Ser145=)
n.244-11515A>G
c.3219T>C (p.Ser1073=)
c.*91T>C (n.*91T>C)
c.2085T>C (p.Ser695=)
n.3462T>C
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
2g.227293304T>GCA350857937COL4A3,MFF-DTc.3324T>G (p.Ser1108Arg)
c.435T>G (p.Ser145Arg)
n.244-11515A>C
c.3219T>G (p.Ser1073Arg)
c.*91T>G (n.*91T>G)
c.2085T>G (p.Ser695Arg)
n.3462T>G
2g.227293305C>ACA350857944COL4A3,MFF-DTc.3325C>A (p.Pro1109Thr)
c.436C>A (p.Pro146Thr)
n.244-11516G>T
c.3220C>A (p.Pro1074Thr)
c.*92C>A (n.*92C>A)
c.2086C>A (p.Pro696Thr)
n.3463C>A
2g.227293305C=CA1332855457COL4A3,MFF-DTc.3325C= (p.Pro1109=)
c.436C= (p.Pro146=)
n.244-11516G=
c.3220C= (p.Pro1074=)
c.*92C= (n.*92C=)
c.2086C= (p.Pro696=)
n.3463C=
2g.227293305C>GCA350857947COL4A3,MFF-DTc.3325C>G (p.Pro1109Ala)
c.436C>G (p.Pro146Ala)
n.244-11516G>C
c.3220C>G (p.Pro1074Ala)
c.*92C>G (n.*92C>G)
c.2086C>G (p.Pro696Ala)
n.3463C>G
2g.227293305C>TCA2147181COL4A3,MFF-DTc.3325C>T (p.Pro1109Ser)
c.436C>T (p.Pro146Ser)
n.244-11516G>A
c.3220C>T (p.Pro1074Ser)
c.*92C>T (n.*92C>T)
c.2086C>T (p.Pro696Ser)
n.3463C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293306C>ACA350857964COL4A3,MFF-DTc.3326C>A (p.Pro1109His)
c.437C>A (p.Pro146His)
n.244-11517G>T
c.3221C>A (p.Pro1074His)
c.*93C>A (n.*93C>A)
c.2087C>A (p.Pro696His)
n.3464C>A
2g.227293306C=CA1332855458COL4A3,MFF-DTc.3326C= (p.Pro1109=)
c.437C= (p.Pro146=)
n.244-11517G=
c.3221C= (p.Pro1074=)
c.*93C= (n.*93C=)
c.2087C= (p.Pro696=)
n.3464C=
2g.227293306C>GCA2147182COL4A3,MFF-DTc.3326C>G (p.Pro1109Arg)
c.437C>G (p.Pro146Arg)
n.244-11517G>C
c.3221C>G (p.Pro1074Arg)
c.*93C>G (n.*93C>G)
c.2087C>G (p.Pro696Arg)
n.3464C>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293306C>TCA350857975COL4A3,MFF-DTc.3326C>T (p.Pro1109Leu)
c.437C>T (p.Pro146Leu)
n.244-11517G>A
c.3221C>T (p.Pro1074Leu)
c.*93C>T (n.*93C>T)
c.2087C>T (p.Pro696Leu)
n.3464C>T
2g.227293307_227293310delCA2580065951COL4A3,MFF-DTc.3327_3330del (p.Gly1110SerfsTer?)
c.438_441del (p.Gly147SerfsTer?)
n.244-11520_244-11517del
c.3222_3225del (p.Gly1075SerfsTer?)
c.*94_*97del (n.*94_*97del)
c.2088_2091del (p.Gly697SerfsTer?)
n.3465_3468del
 ClinVar
2g.227293307T>ACA431506479COL4A3,MFF-DTc.3327T>A (p.Pro1109=)
c.438T>A (p.Pro146=)
n.244-11518A>T
c.3222T>A (p.Pro1074=)
c.*94T>A (n.*94T>A)
c.2088T>A (p.Pro696=)
n.3465T>A
2g.227293307T>CCA431506480COL4A3,MFF-DTc.3327T>C (p.Pro1109=)
c.438T>C (p.Pro146=)
n.244-11518A>G
c.3222T>C (p.Pro1074=)
c.*94T>C (n.*94T>C)
c.2088T>C (p.Pro696=)
n.3465T>C
 ClinVar
2g.227293307T>GCA431506481COL4A3,MFF-DTc.3327T>G (p.Pro1109=)
c.438T>G (p.Pro146=)
n.244-11518A>C
c.3222T>G (p.Pro1074=)
c.*94T>G (n.*94T>G)
c.2088T>G (p.Pro696=)
n.3465T>G
2g.227293308G>ACA350857976COL4A3,MFF-DTc.3328G>A (p.Gly1110Ser)
c.439G>A (p.Gly147Ser)
n.244-11519C>T
c.3223G>A (p.Gly1075Ser)
c.*95G>A (n.*95G>A)
c.2089G>A (p.Gly697Ser)
n.3466G>A
2g.227293308G>CCA2147183COL4A3,MFF-DTc.3328G>C (p.Gly1110Arg)
c.439G>C (p.Gly147Arg)
n.244-11519C>G
c.3223G>C (p.Gly1075Arg)
c.*95G>C (n.*95G>C)
c.2089G>C (p.Gly697Arg)
n.3466G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293308G=CA1332855459COL4A3,MFF-DTc.3328G= (p.Gly1110=)
c.439G= (p.Gly147=)
n.244-11519C=
c.3223G= (p.Gly1075=)
c.*95G= (n.*95G=)
c.2089G= (p.Gly697=)
n.3466G=
2g.227293308G>TCA350857977COL4A3,MFF-DTc.3328G>T (p.Gly1110Cys)
c.439G>T (p.Gly147Cys)
n.244-11519C>A
c.3223G>T (p.Gly1075Cys)
c.*95G>T (n.*95G>T)
c.2089G>T (p.Gly697Cys)
n.3466G>T
2g.227293309G>ACA350857980COL4A3,MFF-DTc.3329G>A (p.Gly1110Asp)
c.440G>A (p.Gly147Asp)
n.244-11520C>T
c.3224G>A (p.Gly1075Asp)
c.*96G>A (n.*96G>A)
c.2090G>A (p.Gly697Asp)
n.3467G>A
2g.227293309G>CCA350857983COL4A3,MFF-DTc.3329G>C (p.Gly1110Ala)
c.440G>C (p.Gly147Ala)
n.244-11520C>G
c.3224G>C (p.Gly1075Ala)
c.*96G>C (n.*96G>C)
c.2090G>C (p.Gly697Ala)
n.3467G>C
2g.227293309G>TCA350857986COL4A3,MFF-DTc.3329G>T (p.Gly1110Val)
c.440G>T (p.Gly147Val)
n.244-11520C>A
c.3224G>T (p.Gly1075Val)
c.*96G>T (n.*96G>T)
c.2090G>T (p.Gly697Val)
n.3467G>T
2g.227293310C>ACA431506482COL4A3,MFF-DTc.3330C>A (p.Gly1110=)
c.441C>A (p.Gly147=)
n.244-11521G>T
c.3225C>A (p.Gly1075=)
c.*97C>A (n.*97C>A)
c.2091C>A (p.Gly697=)
n.3468C>A
2g.227293310C>GCA431506483COL4A3,MFF-DTc.3330C>G (p.Gly1110=)
c.441C>G (p.Gly147=)
n.244-11521G>C
c.3225C>G (p.Gly1075=)
c.*97C>G (n.*97C>G)
c.2091C>G (p.Gly697=)
n.3468C>G
2g.227293310C>TCA431506484COL4A3,MFF-DTc.3330C>T (p.Gly1110=)
c.441C>T (p.Gly147=)
n.244-11521G>A
c.3225C>T (p.Gly1075=)
c.*97C>T (n.*97C>T)
c.2091C>T (p.Gly697=)
n.3468C>T
 ClinVar
2g.227293311C>ACA2147184COL4A3,MFF-DTc.3331C>A (p.Leu1111Ile)
c.442C>A (p.Leu148Ile)
n.244-11522G>T
c.3226C>A (p.Leu1076Ile)
c.2092C>A (p.Leu698Ile)
n.3469C>A
c.*98C>A (n.*98C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227293311C=CA1332855460COL4A3,MFF-DTc.3331C= (p.Leu1111=)
c.442C= (p.Leu148=)
n.244-11522G=
c.3226C= (p.Leu1076=)
c.2092C= (p.Leu698=)
n.3469C=
c.*98C= (n.*98C=)
2g.227293311C>GCA350857999COL4A3,MFF-DTc.3331C>G (p.Leu1111Val)
c.442C>G (p.Leu148Val)
n.244-11522G>C
c.3226C>G (p.Leu1076Val)
c.2092C>G (p.Leu698Val)
n.3469C>G
c.*98C>G (n.*98C>G)
2g.227293311C>TCA350858009COL4A3,MFF-DTc.3331C>T (p.Leu1111Phe)
c.442C>T (p.Leu148Phe)
n.244-11522G>A
c.3226C>T (p.Leu1076Phe)
c.2092C>T (p.Leu698Phe)
n.3469C>T
c.*98C>T (n.*98C>T)
 ClinVar COSMIC COSMIC
2g.227293312T>ACA350858016COL4A3,MFF-DTc.3332T>A (p.Leu1111His)
c.443T>A (p.Leu148His)
n.244-11523A>T
c.3227T>A (p.Leu1076His)
c.2093T>A (p.Leu698His)
n.3470T>A
2g.227293312T>CCA350858017COL4A3,MFF-DTc.3332T>C (p.Leu1111Pro)
c.443T>C (p.Leu148Pro)
n.244-11523A>G
c.3227T>C (p.Leu1076Pro)
c.2093T>C (p.Leu698Pro)
n.3470T>C
2g.227293312T>GCA350858023COL4A3,MFF-DTc.3332T>G (p.Leu1111Arg)
c.443T>G (p.Leu148Arg)
n.244-11523A>C
c.3227T>G (p.Leu1076Arg)
c.2093T>G (p.Leu698Arg)
n.3470T>G
2g.227293313C>ACA431506486COL4A3,MFF-DTc.3333C>A (p.Leu1111=)
c.444C>A (p.Leu148=)
n.244-11524G>T
c.3228C>A (p.Leu1076=)
c.2094C>A (p.Leu698=)
n.3471C>A
2g.227293313C=CA1332855461COL4A3,MFF-DTc.3333C= (p.Leu1111=)
c.444C= (p.Leu148=)
n.244-11524G=
c.3228C= (p.Leu1076=)
c.2094C= (p.Leu698=)
n.3471C=
2g.227293313C>GCA431506487COL4A3,MFF-DTc.3333C>G (p.Leu1111=)
c.444C>G (p.Leu148=)
n.244-11524G>C
c.3228C>G (p.Leu1076=)
c.2094C>G (p.Leu698=)
n.3471C>G
2g.227293313C>TCA431506488COL4A3,MFF-DTc.3333C>T (p.Leu1111=)
c.444C>T (p.Leu148=)
n.244-11524G>A
c.3228C>T (p.Leu1076=)
c.2094C>T (p.Leu698=)
n.3471C>T
 dbSNP
2g.227293314C>ACA350858029COL4A3,MFF-DTc.3334C>A (p.Pro1112Thr)
c.445C>A (p.Pro149Thr)
n.244-11525G>T
c.3229C>A (p.Pro1077Thr)
c.2095C>A (p.Pro699Thr)
n.3472C>A
2g.227293314C=CA1332855462COL4A3,MFF-DTc.3334C= (p.Pro1112=)
c.445C= (p.Pro149=)
n.244-11525G=
c.3229C= (p.Pro1077=)
c.2095C= (p.Pro699=)
n.3472C=
2g.227293314C>GCA350858034COL4A3,MFF-DTc.3334C>G (p.Pro1112Ala)
c.445C>G (p.Pro149Ala)
n.244-11525G>C
c.3229C>G (p.Pro1077Ala)
c.2095C>G (p.Pro699Ala)
n.3472C>G
2g.227293314C>TCA350858031COL4A3,MFF-DTc.3334C>T (p.Pro1112Ser)
c.445C>T (p.Pro149Ser)
n.244-11525G>A
c.3229C>T (p.Pro1077Ser)
c.2095C>T (p.Pro699Ser)
n.3472C>T
 dbSNP
2g.227293315C>ACA350858037COL4A3,MFF-DTc.3335C>A (p.Pro1112Gln)
c.446C>A (p.Pro149Gln)
n.244-11526G>T
c.3230C>A (p.Pro1077Gln)
c.2096C>A (p.Pro699Gln)
n.3473C>A
 dbSNP
2g.227293315C=CA1332855463COL4A3,MFF-DTc.3335C= (p.Pro1112=)
c.446C= (p.Pro149=)
n.244-11526G=
c.3230C= (p.Pro1077=)
c.2096C= (p.Pro699=)
n.3473C=
2g.227293315C>GCA350858044COL4A3,MFF-DTc.3335C>G (p.Pro1112Arg)
c.446C>G (p.Pro149Arg)
n.244-11526G>C
c.3230C>G (p.Pro1077Arg)
c.2096C>G (p.Pro699Arg)
n.3473C>G
2g.227293315C>TCA66608198COL4A3,MFF-DTc.3335C>T (p.Pro1112Leu)
c.446C>T (p.Pro149Leu)
n.244-11526G>A
c.3230C>T (p.Pro1077Leu)
c.2096C>T (p.Pro699Leu)
n.3473C>T
 dbSNP
2g.227293316A>CCA431506489COL4A3,MFF-DTc.3336A>C (p.Pro1112=)
c.447A>C (p.Pro149=)
n.244-11527T>G
c.3231A>C (p.Pro1077=)
c.2097A>C (p.Pro699=)
n.3474A>C
2g.227293316A>GCA431506490COL4A3,MFF-DTc.3336A>G (p.Pro1112=)
c.447A>G (p.Pro149=)
n.244-11527T>C
c.3231A>G (p.Pro1077=)
c.2097A>G (p.Pro699=)
n.3474A>G
2g.227293316A>TCA431506492COL4A3,MFF-DTc.3336A>T (p.Pro1112=)
c.447A>T (p.Pro149=)
n.244-11527T>A
c.3231A>T (p.Pro1077=)
c.2097A>T (p.Pro699=)
n.3474A>T
2g.227293316_227293317delinsAGCA1332855464COL4A3,MFF-DTc.3336_3337delinsAG (p.Pro1112=)
c.447_448delinsAG (p.Pro149=)
n.244-11528_244-11527delinsCT
c.3231_3232delinsAG (p.Pro1077=)
c.2097_2098delinsAG (p.Pro699=)
n.3474_3475delinsAG
2g.227293317G>ACA350858079COL4A3,MFF-DTc.3337G>A (p.Gly1113Arg)
c.448G>A (p.Val150Ile)
n.244-11528C>T
c.3232G>A (p.Gly1078Arg)
c.2098G>A (p.Gly700Arg)
n.3475G>A
c.3337G>A (p.Val1113Ile)
2g.227293317G>CCA350858091COL4A3,MFF-DTc.3337G>C (p.Gly1113Arg)
c.448G>C (p.Val150Leu)
n.244-11528C>G
c.3232G>C (p.Gly1078Arg)
c.2098G>C (p.Gly700Arg)
n.3475G>C
c.3337G>C (p.Val1113Leu)
2g.227293317G>TCA350858097COL4A3,MFF-DTc.3337G>T (p.Gly1113Ter)
c.448G>T (p.Val150Phe)
n.244-11528C>A
c.3232G>T (p.Gly1078Ter)
c.2098G>T (p.Gly700Ter)
n.3475G>T
c.3337G>T (p.Val1113Phe)
2g.227293318delCA539903380COL4A3,MFF-DTc.3337+1del
c.448+1del
n.244-11528del
c.3232+1del
c.2098+1del
n.3475+1del
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227293318G>ACA350858100COL4A3,MFF-DTc.3337+1G>A (n.3337+1G>A)
c.448+1G>A (n.448+1G>A)
n.244-11529C>T
c.3232+1G>A (n.3232+1G>A)
c.2098+1G>A (n.2098+1G>A)
n.3475+1G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227293318G>CCA350858102COL4A3,MFF-DTc.3337+1G>C (n.3337+1G>C)
c.448+1G>C (n.448+1G>C)
n.244-11529C>G
c.3232+1G>C (n.3232+1G>C)
c.2098+1G>C (n.2098+1G>C)
n.3475+1G>C
2g.227293318G=CA1332855465COL4A3,MFF-DTc.3337+1G= (n.3337+1G=)
c.448+1G= (n.448+1G=)
n.244-11529C=
c.3232+1G= (n.3232+1G=)
c.2098+1G= (n.2098+1G=)
n.3475+1G=
2g.227293318G>TCA350858104COL4A3,MFF-DTc.3337+1G>T (n.3337+1G>T)
c.448+1G>T (n.448+1G>T)
n.244-11529C>A
c.3232+1G>T (n.3232+1G>T)
c.2098+1G>T (n.2098+1G>T)
n.3475+1G>T
 ClinVar
2g.227293319T>ACA350858125COL4A3,MFF-DTc.3337+2T>A (n.3337+2T>A)
c.448+2T>A (n.448+2T>A)
n.244-11530A>T
c.3232+2T>A (n.3232+2T>A)
c.2098+2T>A (n.2098+2T>A)
n.3475+2T>A
2g.227293319T>CCA2147185COL4A3,MFF-DTc.3337+2T>C (n.3337+2T>C)
c.448+2T>C (n.448+2T>C)
n.244-11530A>G
c.3232+2T>C (n.3232+2T>C)
c.2098+2T>C (n.2098+2T>C)
n.3475+2T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227293319T>GCA350858105COL4A3,MFF-DTc.3337+2T>G (n.3337+2T>G)
c.448+2T>G (n.448+2T>G)
n.244-11530A>C
c.3232+2T>G (n.3232+2T>G)
c.2098+2T>G (n.2098+2T>G)
n.3475+2T>G
 gnomAD v4
2g.227293319T=CA1332855466COL4A3,MFF-DTc.3337+2T= (n.3337+2T=)
c.448+2T= (n.448+2T=)
n.244-11530A=
c.3232+2T= (n.3232+2T=)
c.2098+2T= (n.2098+2T=)
n.3475+2T=
2g.227293320A>GCA2663419685COL4A3,MFF-DTc.3337+3A>G (n.3337+3A>G)
c.448+3A>G (n.448+3A>G)
n.244-11531T>C
c.3232+3A>G (n.3232+3A>G)
c.2098+3A>G (n.2098+3A>G)
n.3475+3A>G
 ClinVar gnomAD v4
2g.227293322G>ACA2663419686COL4A3,MFF-DTc.3337+5G>A (n.3337+5G>A)
c.448+5G>A (n.448+5G>A)
n.244-11533C>T
c.3232+5G>A (n.3232+5G>A)
c.2098+5G>A (n.2098+5G>A)
n.3475+5G>A
 gnomAD v4
2g.227293323G>ACA2663419687COL4A3,MFF-DTc.3337+6G>A (n.3337+6G>A)
c.448+6G>A (n.448+6G>A)
n.244-11534C>T
c.3232+6G>A (n.3232+6G>A)
c.2098+6G>A (n.2098+6G>A)
n.3475+6G>A
 gnomAD v4
2g.227293323G>CCA66608206COL4A3,MFF-DTc.3337+6G>C (n.3337+6G>C)
c.448+6G>C (n.448+6G>C)
n.244-11534C>G
c.3232+6G>C (n.3232+6G>C)
c.2098+6G>C (n.2098+6G>C)
n.3475+6G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227293323G=CA1332855467COL4A3,MFF-DTc.3337+6G= (n.3337+6G=)
c.448+6G= (n.448+6G=)
n.244-11534C=
c.3232+6G= (n.3232+6G=)
c.2098+6G= (n.2098+6G=)
n.3475+6G=
2g.227293323G>TCA2577265257COL4A3,MFF-DTc.3337+6G>T (n.3337+6G>T)
c.448+6G>T (n.448+6G>T)
n.244-11534C>A
c.3232+6G>T (n.3232+6G>T)
c.2098+6G>T (n.2098+6G>T)
n.3475+6G>T
 ClinVar
2g.227293324C>ACA2573051254COL4A3,MFF-DTc.3337+7C>A (n.3337+7C>A)
c.448+7C>A (n.448+7C>A)
n.244-11535G>T
c.3232+7C>A (n.3232+7C>A)
c.2098+7C>A (n.2098+7C>A)
n.3475+7C>A
2g.227293325T>CCA66608209COL4A3,MFF-DTc.3337+8T>C (n.3337+8T>C)
c.448+8T>C (n.448+8T>C)
n.244-11536A>G
c.3232+8T>C (n.3232+8T>C)
c.2098+8T>C (n.2098+8T>C)
n.3475+8T>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227293325T=CA1332855468COL4A3,MFF-DTc.3337+8T= (n.3337+8T=)
c.448+8T= (n.448+8T=)
n.244-11536A=
c.3232+8T= (n.3232+8T=)
c.2098+8T= (n.2098+8T=)
n.3475+8T=
2g.227293326T>GCA2663419688COL4A3,MFF-DTc.3337+9T>G (n.3337+9T>G)
c.448+9T>G (n.448+9T>G)
n.244-11537A>C
c.3232+9T>G (n.3232+9T>G)
c.2098+9T>G (n.2098+9T>G)
n.3475+9T>G
 ClinVar gnomAD v4
2g.227293327G>CCA2147186COL4A3,MFF-DTc.3337+10G>C (n.3337+10G>C)
c.448+10G>C (n.448+10G>C)
n.244-11538C>G
c.3232+10G>C (n.3232+10G>C)
c.2098+10G>C (n.2098+10G>C)
n.3475+10G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227293327G=CA1332855469COL4A3,MFF-DTc.3337+10G= (n.3337+10G=)
c.448+10G= (n.448+10G=)
n.244-11538C=
c.3232+10G= (n.3232+10G=)
c.2098+10G= (n.2098+10G=)
n.3475+10G=
2g.227293327G>TCA2577265258COL4A3,MFF-DTc.3337+10G>T (n.3337+10G>T)
c.448+10G>T (n.448+10G>T)
n.244-11538C>A
c.3232+10G>T (n.3232+10G>T)
c.2098+10G>T (n.2098+10G>T)
n.3475+10G>T
2g.227293328A>CCA2558341716COL4A3,MFF-DTc.3337+11A>C (n.3337+11A>C)
c.448+11A>C (n.448+11A>C)
n.244-11539T>G
c.3232+11A>C (n.3232+11A>C)
c.2098+11A>C (n.2098+11A>C)
n.3475+11A>C
2g.227293328A>GCA2701771501COL4A3,MFF-DTc.3337+11A>G (n.3337+11A>G)
c.448+11A>G (n.448+11A>G)
n.244-11539T>C
c.3232+11A>G (n.3232+11A>G)
c.2098+11A>G (n.2098+11A>G)
n.3475+11A>G
 ClinVar dbSNP
2g.227293329G>ACA539903383COL4A3,MFF-DTc.3337+12G>A (n.3337+12G>A)
c.448+12G>A (n.448+12G>A)
n.244-11540C>T
c.3232+12G>A (n.3232+12G>A)
c.2098+12G>A (n.2098+12G>A)
n.3475+12G>A
 dbSNP gnomAD v2 gnomAD v4
2g.227293329G>CCA2663419690COL4A3,MFF-DTc.3337+12G>C (n.3337+12G>C)
c.448+12G>C (n.448+12G>C)
n.244-11540C>G
c.3232+12G>C (n.3232+12G>C)
c.2098+12G>C (n.2098+12G>C)
n.3475+12G>C
 gnomAD v4
2g.227293329G=CA1332855470COL4A3,MFF-DTc.3337+12G= (n.3337+12G=)
c.448+12G= (n.448+12G=)
n.244-11540C=
c.3232+12G= (n.3232+12G=)
c.2098+12G= (n.2098+12G=)
n.3475+12G=
2g.227293330T>CCA2663419691COL4A3,MFF-DTc.3337+13T>C (n.3337+13T>C)
c.448+13T>C (n.448+13T>C)
n.244-11541A>G
c.3232+13T>C (n.3232+13T>C)
c.2098+13T>C (n.2098+13T>C)
n.3475+13T>C
 gnomAD v4
2g.227293330T>GCA2147187COL4A3,MFF-DTc.3337+13T>G (n.3337+13T>G)
c.448+13T>G (n.448+13T>G)
n.244-11541A>C
c.3232+13T>G (n.3232+13T>G)
c.2098+13T>G (n.2098+13T>G)
n.3475+13T>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227293330T=CA1332855471COL4A3,MFF-DTc.3337+13T= (n.3337+13T=)
c.448+13T= (n.448+13T=)
n.244-11541A=
c.3232+13T= (n.3232+13T=)
c.2098+13T= (n.2098+13T=)
n.3475+13T=

Number of alleles fetched