Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227293224_227293227delCA10654913COL4A3,MFF-DTc.3244_3247del (p.Lys1082GlufsTer?)
c.355_358del (p.Lys119GlufsTer?)
n.244-11433_244-11430del
c.3139_3142del (p.Lys1047GlufsTer?)
c.*11_*14del (n.*11_*14del)
c.2005_2008del (p.Lys669GlufsTer?)
n.3382_3385del
 ClinVar dbSNP gnomAD v4
2g.227293224A>CCA350857355COL4A3,MFF-DTc.3244A>C (p.Lys1082Gln)
c.355A>C (p.Lys119Gln)
n.244-11435T>G
c.3139A>C (p.Lys1047Gln)
c.*11A>C (n.*11A>C)
c.2005A>C (p.Lys669Gln)
n.3382A>C
2g.227293224A>GCA350857351COL4A3,MFF-DTc.3244A>G (p.Lys1082Glu)
c.355A>G (p.Lys119Glu)
n.244-11435T>C
c.3139A>G (p.Lys1047Glu)
c.*11A>G (n.*11A>G)
c.2005A>G (p.Lys669Glu)
n.3382A>G
 gnomAD v4
2g.227293224A>TCA350857349COL4A3,MFF-DTc.3244A>T (p.Lys1082Ter)
c.355A>T (p.Lys119Ter)
n.244-11435T>A
c.3139A>T (p.Lys1047Ter)
c.*11A>T (n.*11A>T)
c.2005A>T (p.Lys669Ter)
n.3382A>T
 ClinVar dbSNP
2g.227293225A>CCA350857356COL4A3,MFF-DTc.3245A>C (p.Lys1082Thr)
c.356A>C (p.Lys119Thr)
n.244-11436T>G
c.3140A>C (p.Lys1047Thr)
c.*12A>C (n.*12A>C)
c.2006A>C (p.Lys669Thr)
n.3383A>C
2g.227293225A>GCA350857357COL4A3,MFF-DTc.3245A>G (p.Lys1082Arg)
c.356A>G (p.Lys119Arg)
n.244-11436T>C
c.3140A>G (p.Lys1047Arg)
c.*12A>G (n.*12A>G)
c.2006A>G (p.Lys669Arg)
n.3383A>G
2g.227293225A>TCA350857358COL4A3,MFF-DTc.3245A>T (p.Lys1082Ile)
c.356A>T (p.Lys119Ile)
n.244-11436T>A
c.3140A>T (p.Lys1047Ile)
c.*12A>T (n.*12A>T)
c.2006A>T (p.Lys669Ile)
n.3383A>T
2g.227293226A>CCA350857359COL4A3,MFF-DTc.3246A>C (p.Lys1082Asn)
c.357A>C (p.Lys119Asn)
n.244-11437T>G
c.3141A>C (p.Lys1047Asn)
c.*13A>C (n.*13A>C)
c.2007A>C (p.Lys669Asn)
n.3384A>C
2g.227293226A>GCA431506381COL4A3,MFF-DTc.3246A>G (p.Lys1082=)
c.357A>G (p.Lys119=)
n.244-11437T>C
c.3141A>G (p.Lys1047=)
c.*13A>G (n.*13A>G)
c.2007A>G (p.Lys669=)
n.3384A>G
 gnomAD v4
2g.227293226A>TCA350857360COL4A3,MFF-DTc.3246A>T (p.Lys1082Asn)
c.357A>T (p.Lys119Asn)
n.244-11437T>A
c.3141A>T (p.Lys1047Asn)
c.*13A>T (n.*13A>T)
c.2007A>T (p.Lys669Asn)
n.3384A>T
2g.227293227G>ACA350857364COL4A3,MFF-DTc.3247G>A (p.Gly1083Arg)
c.358G>A (p.Gly120Arg)
n.244-11438C>T
c.3142G>A (p.Gly1048Arg)
c.*14G>A (n.*14G>A)
c.2008G>A (p.Gly670Arg)
n.3385G>A
2g.227293227G>CCA350857369COL4A3,MFF-DTc.3247G>C (p.Gly1083Arg)
c.358G>C (p.Gly120Arg)
n.244-11438C>G
c.3142G>C (p.Gly1048Arg)
c.*14G>C (n.*14G>C)
c.2008G>C (p.Gly670Arg)
n.3385G>C
 ClinVar dbSNP
2g.227293227G>TCA350857365COL4A3,MFF-DTc.3247G>T (p.Gly1083Ter)
c.358G>T (p.Gly120Ter)
n.244-11438C>A
c.3142G>T (p.Gly1048Ter)
c.*14G>T (n.*14G>T)
c.2008G>T (p.Gly670Ter)
n.3385G>T
2g.227293228G>ACA350857373COL4A3,MFF-DTc.3248G>A (p.Gly1083Glu)
c.359G>A (p.Gly120Glu)
n.244-11439C>T
c.3143G>A (p.Gly1048Glu)
c.*15G>A (n.*15G>A)
c.2009G>A (p.Gly670Glu)
n.3386G>A
 COSMIC COSMIC
2g.227293228G>CCA350857376COL4A3,MFF-DTc.3248G>C (p.Gly1083Ala)
c.359G>C (p.Gly120Ala)
n.244-11439C>G
c.3143G>C (p.Gly1048Ala)
c.*15G>C (n.*15G>C)
c.2009G>C (p.Gly670Ala)
n.3386G>C
2g.227293228G>TCA350857386COL4A3,MFF-DTc.3248G>T (p.Gly1083Val)
c.359G>T (p.Gly120Val)
n.244-11439C>A
c.3143G>T (p.Gly1048Val)
c.*15G>T (n.*15G>T)
c.2009G>T (p.Gly670Val)
n.3386G>T
2g.227293229A>CCA431506382COL4A3,MFF-DTc.3249A>C (p.Gly1083=)
c.360A>C (p.Gly120=)
n.244-11440T>G
c.3144A>C (p.Gly1048=)
c.*16A>C (n.*16A>C)
c.2010A>C (p.Gly670=)
n.3387A>C
2g.227293229A>GCA431506383COL4A3,MFF-DTc.3249A>G (p.Gly1083=)
c.360A>G (p.Gly120=)
n.244-11440T>C
c.3144A>G (p.Gly1048=)
c.*16A>G (n.*16A>G)
c.2010A>G (p.Gly670=)
n.3387A>G
2g.227293229A>TCA431506384COL4A3,MFF-DTc.3249A>T (p.Gly1083=)
c.360A>T (p.Gly120=)
n.244-11440T>A
c.3144A>T (p.Gly1048=)
c.*16A>T (n.*16A>T)
c.2010A>T (p.Gly670=)
n.3387A>T
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

Number of alleles fetched