Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227280491G>ACA350849079COL4A3,MFF-DTc.2275G>A (p.Gly759Arg)
n.330-916C>T
c.2170G>A (p.Gly724Arg)
c.1036G>A (p.Gly346Arg)
n.2413G>A
 ClinVar dbSNP
2g.227280491G>CCA350849081COL4A3,MFF-DTc.2275G>C (p.Gly759Arg)
n.330-916C>G
c.2170G>C (p.Gly724Arg)
c.1036G>C (p.Gly346Arg)
n.2413G>C
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227280491G=CA1332849699COL4A3,MFF-DTc.2275G= (p.Gly759=)
n.330-916C=
c.2170G= (p.Gly724=)
c.1036G= (p.Gly346=)
n.2413G=
2g.227280491G>TCA350849083COL4A3,MFF-DTc.2275G>T (p.Gly759Ter)
n.330-916C>A
c.2170G>T (p.Gly724Ter)
c.1036G>T (p.Gly346Ter)
n.2413G>T
2g.227280492G>ACA350849085COL4A3,MFF-DTc.2276G>A (p.Gly759Glu)
n.330-917C>T
c.2171G>A (p.Gly724Glu)
c.1037G>A (p.Gly346Glu)
n.2414G>A
 gnomAD v4
2g.227280492G>CCA350849086COL4A3,MFF-DTc.2276G>C (p.Gly759Ala)
n.330-917C>G
c.2171G>C (p.Gly724Ala)
c.1037G>C (p.Gly346Ala)
n.2414G>C
 dbSNP gnomAD v3 gnomAD v4
2g.227280492G=CA1332849700COL4A3,MFF-DTc.2276G= (p.Gly759=)
n.330-917C=
c.2171G= (p.Gly724=)
c.1037G= (p.Gly346=)
n.2414G=
2g.227280492G>TCA350849087COL4A3,MFF-DTc.2276G>T (p.Gly759Val)
n.330-917C>A
c.2171G>T (p.Gly724Val)
c.1037G>T (p.Gly346Val)
n.2414G>T
 gnomAD v4
2g.227280493A>CCA431501745COL4A3,MFF-DTc.2277A>C (p.Gly759=)
n.330-918T>G
c.2172A>C (p.Gly724=)
c.1038A>C (p.Gly346=)
n.2415A>C
2g.227280493A>GCA431501746COL4A3,MFF-DTc.2277A>G (p.Gly759=)
n.330-918T>C
c.2172A>G (p.Gly724=)
c.1038A>G (p.Gly346=)
n.2415A>G
2g.227280493A>TCA431501747COL4A3,MFF-DTc.2277A>T (p.Gly759=)
n.330-918T>A
c.2172A>T (p.Gly724=)
c.1038A>T (p.Gly346=)
n.2415A>T
2g.227280494G>ACA350849089COL4A3,MFF-DTc.2278G>A (p.Glu760Lys)
n.330-919C>T
c.2173G>A (p.Glu725Lys)
c.1039G>A (p.Glu347Lys)
n.2416G>A
 dbSNP gnomAD v4
2g.227280494G>CCA350849090COL4A3,MFF-DTc.2278G>C (p.Glu760Gln)
n.330-919C>G
c.2173G>C (p.Glu725Gln)
c.1039G>C (p.Glu347Gln)
n.2416G>C
2g.227280494G=CA1332849701COL4A3,MFF-DTc.2278G= (p.Glu760=)
n.330-919C=
c.2173G= (p.Glu725=)
c.1039G= (p.Glu347=)
n.2416G=
2g.227280494G>TCA350849093COL4A3,MFF-DTc.2278G>T (p.Glu760Ter)
n.330-919C>A
c.2173G>T (p.Glu725Ter)
c.1039G>T (p.Glu347Ter)
n.2416G>T
2g.227280495A=CA1332849702COL4A3,MFF-DTc.2279A= (p.Glu760=)
n.330-920T=
c.2174A= (p.Glu725=)
c.1040A= (p.Glu347=)
n.2417A=
2g.227280495A>CCA350849101COL4A3,MFF-DTc.2279A>C (p.Glu760Ala)
n.330-920T>G
c.2174A>C (p.Glu725Ala)
c.1040A>C (p.Glu347Ala)
n.2417A>C
2g.227280495A>GCA350849103COL4A3,MFF-DTc.2279A>G (p.Glu760Gly)
n.330-920T>C
c.2174A>G (p.Glu725Gly)
c.1040A>G (p.Glu347Gly)
n.2417A>G
2g.227280495A>TCA2146909COL4A3,MFF-DTc.2279A>T (p.Glu760Val)
n.330-920T>A
c.2174A>T (p.Glu725Val)
c.1040A>T (p.Glu347Val)
n.2417A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280496A>CCA350849107COL4A3,MFF-DTc.2280A>C (p.Glu760Asp)
n.330-921T>G
c.2175A>C (p.Glu725Asp)
c.1041A>C (p.Glu347Asp)
n.2418A>C
2g.227280496A>GCA431501754COL4A3,MFF-DTc.2280A>G (p.Glu760=)
n.330-921T>C
c.2175A>G (p.Glu725=)
c.1041A>G (p.Glu347=)
n.2418A>G
 ClinVar
2g.227280496A>TCA350849108COL4A3,MFF-DTc.2280A>T (p.Glu760Asp)
n.330-921T>A
c.2175A>T (p.Glu725Asp)
c.1041A>T (p.Glu347Asp)
n.2418A>T
2g.227280497A>CCA431501757COL4A3,MFF-DTc.2281A>C (p.Arg761=)
n.330-922T>G
c.2176A>C (p.Arg726=)
c.1042A>C (p.Arg348=)
n.2419A>C
 gnomAD v4
2g.227280497A>GCA350849110COL4A3,MFF-DTc.2281A>G (p.Arg761Gly)
n.330-922T>C
c.2176A>G (p.Arg726Gly)
c.1042A>G (p.Arg348Gly)
n.2419A>G
2g.227280497A>TCA350849112COL4A3,MFF-DTc.2281A>T (p.Arg761Ter)
n.330-922T>A
c.2176A>T (p.Arg726Ter)
c.1042A>T (p.Arg348Ter)
n.2419A>T
2g.227280498G>ACA2146910COL4A3,MFF-DTc.2282G>A (p.Arg761Lys)
n.330-923C>T
c.2177G>A (p.Arg726Lys)
c.1043G>A (p.Arg348Lys)
n.2420G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280498G>CCA350849114COL4A3,MFF-DTc.2282G>C (p.Arg761Thr)
n.330-923C>G
c.2177G>C (p.Arg726Thr)
c.1043G>C (p.Arg348Thr)
n.2420G>C
2g.227280498G=CA1332849703COL4A3,MFF-DTc.2282G= (p.Arg761=)
n.330-923C=
c.2177G= (p.Arg726=)
c.1043G= (p.Arg348=)
n.2420G=
2g.227280498G>TCA350849116COL4A3,MFF-DTc.2282G>T (p.Arg761Ile)
n.330-923C>A
c.2177G>T (p.Arg726Ile)
c.1043G>T (p.Arg348Ile)
n.2420G>T
2g.227280499A>CCA350849118COL4A3,MFF-DTc.2283A>C (p.Arg761Ser)
n.330-924T>G
c.2178A>C (p.Arg726Ser)
c.1044A>C (p.Arg348Ser)
n.2421A>C
2g.227280499A>GCA431501765COL4A3,MFF-DTc.2283A>G (p.Arg761=)
n.330-924T>C
c.2178A>G (p.Arg726=)
c.1044A>G (p.Arg348=)
n.2421A>G
2g.227280499A>TCA350849120COL4A3,MFF-DTc.2283A>T (p.Arg761Ser)
n.330-924T>A
c.2178A>T (p.Arg726Ser)
c.1044A>T (p.Arg348Ser)
n.2421A>T
2g.227280500G>ACA66598668COL4A3,MFF-DTc.2284G>A (p.Gly762Ser)
n.330-925C>T
c.2179G>A (p.Gly727Ser)
c.1045G>A (p.Gly349Ser)
n.2422G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280500G>CCA350849122COL4A3,MFF-DTc.2284G>C (p.Gly762Arg)
n.330-925C>G
c.2179G>C (p.Gly727Arg)
c.1045G>C (p.Gly349Arg)
n.2422G>C
 ClinVar dbSNP
2g.227280500G=CA1332849704COL4A3,MFF-DTc.2284G= (p.Gly762=)
n.330-925C=
c.2179G= (p.Gly727=)
c.1045G= (p.Gly349=)
n.2422G=
2g.227280500G>TCA350849124COL4A3,MFF-DTc.2284G>T (p.Gly762Cys)
n.330-925C>A
c.2179G>T (p.Gly727Cys)
c.1045G>T (p.Gly349Cys)
n.2422G>T
2g.227280501G>ACA350849125COL4A3,MFF-DTc.2285G>A (p.Gly762Asp)
n.330-926C>T
c.2180G>A (p.Gly727Asp)
c.1046G>A (p.Gly349Asp)
n.2423G>A
2g.227280501G>CCA350849126COL4A3,MFF-DTc.2285G>C (p.Gly762Ala)
n.330-926C>G
c.2180G>C (p.Gly727Ala)
c.1046G>C (p.Gly349Ala)
n.2423G>C
2g.227280501G>TCA350849127COL4A3,MFF-DTc.2285G>T (p.Gly762Val)
n.330-926C>A
c.2180G>T (p.Gly727Val)
c.1046G>T (p.Gly349Val)
n.2423G>T
2g.227280502C>ACA431501774COL4A3,MFF-DTc.2286C>A (p.Gly762=)
n.330-927G>T
c.2181C>A (p.Gly727=)
c.1047C>A (p.Gly349=)
n.2424C>A
 dbSNP
2g.227280502C=CA1332849705COL4A3,MFF-DTc.2286C= (p.Gly762=)
n.330-927G=
c.2181C= (p.Gly727=)
c.1047C= (p.Gly349=)
n.2424C=
2g.227280502C>GCA431501776COL4A3,MFF-DTc.2286C>G (p.Gly762=)
n.330-927G>C
c.2181C>G (p.Gly727=)
c.1047C>G (p.Gly349=)
n.2424C>G
2g.227280502C>TCA431501777COL4A3,MFF-DTc.2286C>T (p.Gly762=)
n.330-927G>A
c.2181C>T (p.Gly727=)
c.1047C>T (p.Gly349=)
n.2424C>T
2g.227280503A>CCA350849129COL4A3,MFF-DTc.2287A>C (p.Asn763His)
n.330-928T>G
c.2182A>C (p.Asn728His)
c.1048A>C (p.Asn350His)
n.2425A>C
2g.227280503A>GCA350849132COL4A3,MFF-DTc.2287A>G (p.Asn763Asp)
n.330-928T>C
c.2182A>G (p.Asn728Asp)
c.1048A>G (p.Asn350Asp)
n.2425A>G
 gnomAD v4
2g.227280503A>TCA350849131COL4A3,MFF-DTc.2287A>T (p.Asn763Tyr)
n.330-928T>A
c.2182A>T (p.Asn728Tyr)
c.1048A>T (p.Asn350Tyr)
n.2425A>T
2g.227280507_227280526dupCA2663418718COL4A3,MFF-DTc.2291_2310dup (p.Gly771LeufsTer?)
n.330-947_330-928dup
c.2186_2205dup (p.Gly736LeufsTer?)
c.1052_1071dup (p.Gly358LeufsTer?)
n.2429_2448dup
 gnomAD v4
2g.227280504A=CA1332849706COL4A3,MFF-DTc.2288A= (p.Asn763=)
n.330-929T=
c.2183A= (p.Asn728=)
c.1049A= (p.Asn350=)
n.2426A=
2g.227280504A>CCA350849134COL4A3,MFF-DTc.2288A>C (p.Asn763Thr)
n.330-929T>G
c.2183A>C (p.Asn728Thr)
c.1049A>C (p.Asn350Thr)
n.2426A>C
2g.227280504A>GCA350849136COL4A3,MFF-DTc.2288A>G (p.Asn763Ser)
n.330-929T>C
c.2183A>G (p.Asn728Ser)
c.1049A>G (p.Asn350Ser)
n.2426A>G
 dbSNP gnomAD v2 gnomAD v4
2g.227280504A>TCA350849138COL4A3,MFF-DTc.2288A>T (p.Asn763Ile)
n.330-929T>A
c.2183A>T (p.Asn728Ile)
c.1049A>T (p.Asn350Ile)
n.2426A>T
2g.227280505T>ACA350849140COL4A3,MFF-DTc.2289T>A (p.Asn763Lys)
n.330-930A>T
c.2184T>A (p.Asn728Lys)
c.1050T>A (p.Asn350Lys)
n.2427T>A
2g.227280505T>CCA431501786COL4A3,MFF-DTc.2289T>C (p.Asn763=)
n.330-930A>G
c.2184T>C (p.Asn728=)
c.1050T>C (p.Asn350=)
n.2427T>C
2g.227280505T>GCA350849141COL4A3,MFF-DTc.2289T>G (p.Asn763Lys)
n.330-930A>C
c.2184T>G (p.Asn728Lys)
c.1050T>G (p.Asn350Lys)
n.2427T>G
2g.227280506delCA2577265103COL4A3,MFF-DTc.2290del (p.Ser764LeufsTer?)
n.330-930del
c.2185del (p.Ser729LeufsTer?)
c.1051del (p.Ser351LeufsTer?)
n.2428del
2g.227280506T>ACA350849143COL4A3,MFF-DTc.2290T>A (p.Ser764Thr)
n.330-931A>T
c.2185T>A (p.Ser729Thr)
c.1051T>A (p.Ser351Thr)
n.2428T>A
2g.227280506T>CCA350849146COL4A3,MFF-DTc.2290T>C (p.Ser764Pro)
n.330-931A>G
c.2185T>C (p.Ser729Pro)
c.1051T>C (p.Ser351Pro)
n.2428T>C
2g.227280506T>GCA350849147COL4A3,MFF-DTc.2290T>G (p.Ser764Ala)
n.330-931A>C
c.2185T>G (p.Ser729Ala)
c.1051T>G (p.Ser351Ala)
n.2428T>G
2g.227280507C>ACA2146911COL4A3,MFF-DTc.2291C>A (p.Ser764Tyr)
n.330-932G>T
c.2186C>A (p.Ser729Tyr)
c.1052C>A (p.Ser351Tyr)
n.2429C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.227280507C=CA1332849707COL4A3,MFF-DTc.2291C= (p.Ser764=)
n.330-932G=
c.2186C= (p.Ser729=)
c.1052C= (p.Ser351=)
n.2429C=
2g.227280507C>GCA350849151COL4A3,MFF-DTc.2291C>G (p.Ser764Cys)
n.330-932G>C
c.2186C>G (p.Ser729Cys)
c.1052C>G (p.Ser351Cys)
n.2429C>G
2g.227280507C>TCA350849153COL4A3,MFF-DTc.2291C>T (p.Ser764Phe)
n.330-932G>A
c.2186C>T (p.Ser729Phe)
c.1052C>T (p.Ser351Phe)
n.2429C>T
2g.227280508T>ACA431501795COL4A3,MFF-DTc.2292T>A (p.Ser764=)
n.330-933A>T
c.2187T>A (p.Ser729=)
c.1053T>A (p.Ser351=)
n.2430T>A
2g.227280508T>CCA2146912COL4A3,MFF-DTc.2292T>C (p.Ser764=)
n.330-933A>G
c.2187T>C (p.Ser729=)
c.1053T>C (p.Ser351=)
n.2430T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280508T>GCA431501798COL4A3,MFF-DTc.2292T>G (p.Ser764=)
n.330-933A>C
c.2187T>G (p.Ser729=)
c.1053T>G (p.Ser351=)
n.2430T>G
2g.227280508T=CA1332849708COL4A3,MFF-DTc.2292T= (p.Ser764=)
n.330-933A=
c.2187T= (p.Ser729=)
c.1053T= (p.Ser351=)
n.2430T=
2g.227280509G>ACA350849157COL4A3,MFF-DTc.2293G>A (p.Gly765Arg)
n.330-934C>T
c.2188G>A (p.Gly730Arg)
c.1054G>A (p.Gly352Arg)
n.2431G>A
2g.227280509G>CCA350849159COL4A3,MFF-DTc.2293G>C (p.Gly765Arg)
n.330-934C>G
c.2188G>C (p.Gly730Arg)
c.1054G>C (p.Gly352Arg)
n.2431G>C
2g.227280509G>TCA350849156COL4A3,MFF-DTc.2293G>T (p.Gly765Trp)
n.330-934C>A
c.2188G>T (p.Gly730Trp)
c.1054G>T (p.Gly352Trp)
n.2431G>T
2g.227280510G>ACA350849161COL4A3,MFF-DTc.2294G>A (p.Gly765Glu)
n.330-935C>T
c.2189G>A (p.Gly730Glu)
c.1055G>A (p.Gly352Glu)
n.2432G>A
2g.227280510G>CCA2146913COL4A3,MFF-DTc.2294G>C (p.Gly765Ala)
n.330-935C>G
c.2189G>C (p.Gly730Ala)
c.1055G>C (p.Gly352Ala)
n.2432G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280510G=CA1332849709COL4A3,MFF-DTc.2294G= (p.Gly765=)
n.330-935C=
c.2189G= (p.Gly730=)
c.1055G= (p.Gly352=)
n.2432G=
2g.227280510G>TCA350849166COL4A3,MFF-DTc.2294G>T (p.Gly765Val)
n.330-935C>A
c.2189G>T (p.Gly730Val)
c.1055G>T (p.Gly352Val)
n.2432G>T
2g.227280511G>ACA431501805COL4A3,MFF-DTc.2295G>A (p.Gly765=)
n.330-936C>T
c.2190G>A (p.Gly730=)
c.1056G>A (p.Gly352=)
n.2433G>A
2g.227280511G>CCA431501807COL4A3,MFF-DTc.2295G>C (p.Gly765=)
n.330-936C>G
c.2190G>C (p.Gly730=)
c.1056G>C (p.Gly352=)
n.2433G>C
2g.227280511G>TCA431501809COL4A3,MFF-DTc.2295G>T (p.Gly765=)
n.330-936C>A
c.2190G>T (p.Gly730=)
c.1056G>T (p.Gly352=)
n.2433G>T
2g.227280512G>ACA2146914COL4A3,MFF-DTc.2296G>A (p.Glu766Lys)
n.330-937C>T
c.2191G>A (p.Glu731Lys)
c.1057G>A (p.Glu353Lys)
n.2434G>A
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
2g.227280512G>CCA350849170COL4A3,MFF-DTc.2296G>C (p.Glu766Gln)
n.330-937C>G
c.2191G>C (p.Glu731Gln)
c.1057G>C (p.Glu353Gln)
n.2434G>C
 gnomAD v4
2g.227280512G=CA1332849710COL4A3,MFF-DTc.2296G= (p.Glu766=)
n.330-937C=
c.2191G= (p.Glu731=)
c.1057G= (p.Glu353=)
n.2434G=
2g.227280512G>TCA350849172COL4A3,MFF-DTc.2296G>T (p.Glu766Ter)
n.330-937C>A
c.2191G>T (p.Glu731Ter)
c.1057G>T (p.Glu353Ter)
n.2434G>T
2g.227280513A>CCA350849173COL4A3,MFF-DTc.2297A>C (p.Glu766Ala)
n.330-938T>G
c.2192A>C (p.Glu731Ala)
c.1058A>C (p.Glu353Ala)
n.2435A>C
2g.227280513A>GCA350849180COL4A3,MFF-DTc.2297A>G (p.Glu766Gly)
n.330-938T>C
c.2192A>G (p.Glu731Gly)
c.1058A>G (p.Glu353Gly)
n.2435A>G
2g.227280513A>TCA350849174COL4A3,MFF-DTc.2297A>T (p.Glu766Val)
n.330-938T>A
c.2192A>T (p.Glu731Val)
c.1058A>T (p.Glu353Val)
n.2435A>T
2g.227280514A>CCA350849181COL4A3,MFF-DTc.2298A>C (p.Glu766Asp)
n.330-939T>G
c.2193A>C (p.Glu731Asp)
c.1059A>C (p.Glu353Asp)
n.2436A>C
2g.227280514A>GCA431501819COL4A3,MFF-DTc.2298A>G (p.Glu766=)
n.330-939T>C
c.2193A>G (p.Glu731=)
c.1059A>G (p.Glu353=)
n.2436A>G
 ClinVar dbSNP gnomAD v4
2g.227280514A>TCA350849182COL4A3,MFF-DTc.2298A>T (p.Glu766Asp)
n.330-939T>A
c.2193A>T (p.Glu731Asp)
c.1059A>T (p.Glu353Asp)
n.2436A>T
2g.227280515C>ACA350849183COL4A3,MFF-DTc.2299C>A (p.His767Asn)
n.330-940G>T
c.2194C>A (p.His732Asn)
c.1060C>A (p.His354Asn)
n.2437C>A
2g.227280515C>GCA350849184COL4A3,MFF-DTc.2299C>G (p.His767Asp)
n.330-940G>C
c.2194C>G (p.His732Asp)
c.1060C>G (p.His354Asp)
n.2437C>G
2g.227280515C>TCA350849185COL4A3,MFF-DTc.2299C>T (p.His767Tyr)
n.330-940G>A
c.2194C>T (p.His732Tyr)
c.1060C>T (p.His354Tyr)
n.2437C>T
2g.227280516A=CA1332849711COL4A3,MFF-DTc.2300A= (p.His767=)
n.330-941T=
c.2195A= (p.His732=)
c.1061A= (p.His354=)
n.2438A=
2g.227280516A>CCA350849187COL4A3,MFF-DTc.2300A>C (p.His767Pro)
n.330-941T>G
c.2195A>C (p.His732Pro)
c.1061A>C (p.His354Pro)
n.2438A>C
2g.227280516A>GCA350849188COL4A3,MFF-DTc.2300A>G (p.His767Arg)
n.330-941T>C
c.2195A>G (p.His732Arg)
c.1061A>G (p.His354Arg)
n.2438A>G
 dbSNP gnomAD v2 gnomAD v4
2g.227280516A>TCA350849186COL4A3,MFF-DTc.2300A>T (p.His767Leu)
n.330-941T>A
c.2195A>T (p.His732Leu)
c.1061A>T (p.His354Leu)
n.2438A>T
2g.227280517T>ACA350849190COL4A3,MFF-DTc.2301T>A (p.His767Gln)
n.330-942A>T
c.2196T>A (p.His732Gln)
c.1062T>A (p.His354Gln)
n.2439T>A
2g.227280517T>CCA431501828COL4A3,MFF-DTc.2301T>C (p.His767=)
n.330-942A>G
c.2196T>C (p.His732=)
c.1062T>C (p.His354=)
n.2439T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227280517T>GCA350849189COL4A3,MFF-DTc.2301T>G (p.His767Gln)
n.330-942A>C
c.2196T>G (p.His732Gln)
c.1062T>G (p.His354Gln)
n.2439T>G
2g.227280517T=CA1332849712COL4A3,MFF-DTc.2301T= (p.His767=)
n.330-942A=
c.2196T= (p.His732=)
c.1062T= (p.His354=)
n.2439T=
2g.227280518G>ACA350849191COL4A3,MFF-DTc.2302G>A (p.Gly768Arg)
n.330-943C>T
c.2197G>A (p.Gly733Arg)
c.1063G>A (p.Gly355Arg)
n.2440G>A
 COSMIC COSMIC
2g.227280518G>CCA350849192COL4A3,MFF-DTc.2302G>C (p.Gly768Arg)
n.330-943C>G
c.2197G>C (p.Gly733Arg)
c.1063G>C (p.Gly355Arg)
n.2440G>C
2g.227280518G>TCA350849193COL4A3,MFF-DTc.2302G>T (p.Gly768Ter)
n.330-943C>A
c.2197G>T (p.Gly733Ter)
c.1063G>T (p.Gly355Ter)
n.2440G>T
2g.227280519G>ACA350849194COL4A3,MFF-DTc.2303G>A (p.Gly768Glu)
n.330-944C>T
c.2198G>A (p.Gly733Glu)
c.1064G>A (p.Gly355Glu)
n.2441G>A
 gnomAD v4 COSMIC COSMIC
2g.227280519G>CCA350849195COL4A3,MFF-DTc.2303G>C (p.Gly768Ala)
n.330-944C>G
c.2198G>C (p.Gly733Ala)
c.1064G>C (p.Gly355Ala)
n.2441G>C
2g.227280519G>TCA350849196COL4A3,MFF-DTc.2303G>T (p.Gly768Val)
n.330-944C>A
c.2198G>T (p.Gly733Val)
c.1064G>T (p.Gly355Val)
n.2441G>T
2g.227280520A>CCA431501836COL4A3,MFF-DTc.2304A>C (p.Gly768=)
n.330-945T>G
c.2199A>C (p.Gly733=)
c.1065A>C (p.Gly355=)
n.2442A>C
2g.227280520A>GCA431501840COL4A3,MFF-DTc.2304A>G (p.Gly768=)
n.330-945T>C
c.2199A>G (p.Gly733=)
c.1065A>G (p.Gly355=)
n.2442A>G
2g.227280520A>TCA431501838COL4A3,MFF-DTc.2304A>T (p.Gly768=)
n.330-945T>A
c.2199A>T (p.Gly733=)
c.1065A>T (p.Gly355=)
n.2442A>T
2g.227280521G>ACA350849199COL4A3,MFF-DTc.2305G>A (p.Glu769Lys)
n.330-946C>T
c.2200G>A (p.Glu734Lys)
c.1066G>A (p.Glu356Lys)
n.2443G>A
 dbSNP
2g.227280521G>CCA350849197COL4A3,MFF-DTc.2305G>C (p.Glu769Gln)
n.330-946C>G
c.2200G>C (p.Glu734Gln)
c.1066G>C (p.Glu356Gln)
n.2443G>C
2g.227280521G=CA1332849713COL4A3,MFF-DTc.2305G= (p.Glu769=)
n.330-946C=
c.2200G= (p.Glu734=)
c.1066G= (p.Glu356=)
n.2443G=
2g.227280521G>TCA350849198COL4A3,MFF-DTc.2305G>T (p.Glu769Ter)
n.330-946C>A
c.2200G>T (p.Glu734Ter)
c.1066G>T (p.Glu356Ter)
n.2443G>T
2g.227280522A=CA1332849714COL4A3,MFF-DTc.2306A= (p.Glu769=)
n.330-947T=
c.2201A= (p.Glu734=)
c.1067A= (p.Glu356=)
n.2444A=
2g.227280522A>CCA350849200COL4A3,MFF-DTc.2306A>C (p.Glu769Ala)
n.330-947T>G
c.2201A>C (p.Glu734Ala)
c.1067A>C (p.Glu356Ala)
n.2444A>C
2g.227280522A>GCA350849201COL4A3,MFF-DTc.2306A>G (p.Glu769Gly)
n.330-947T>C
c.2201A>G (p.Glu734Gly)
c.1067A>G (p.Glu356Gly)
n.2444A>G
 dbSNP
2g.227280522A>TCA350849202COL4A3,MFF-DTc.2306A>T (p.Glu769Val)
n.330-947T>A
c.2201A>T (p.Glu734Val)
c.1067A>T (p.Glu356Val)
n.2444A>T
2g.227280523A>CCA350849203COL4A3,MFF-DTc.2307A>C (p.Glu769Asp)
n.330-948T>G
c.2202A>C (p.Glu734Asp)
c.1068A>C (p.Glu356Asp)
n.2445A>C
2g.227280523A>GCA431501848COL4A3,MFF-DTc.2307A>G (p.Glu769=)
n.330-948T>C
c.2202A>G (p.Glu734=)
c.1068A>G (p.Glu356=)
n.2445A>G
2g.227280523A>TCA350849204COL4A3,MFF-DTc.2307A>T (p.Glu769Asp)
n.330-948T>A
c.2202A>T (p.Glu734Asp)
c.1068A>T (p.Glu356Asp)
n.2445A>T
2g.227280524A>CCA350849207COL4A3,MFF-DTc.2308A>C (p.Ile770Leu)
n.330-949T>G
c.2203A>C (p.Ile735Leu)
c.1069A>C (p.Ile357Leu)
n.2446A>C
2g.227280524A>GCA350849205COL4A3,MFF-DTc.2308A>G (p.Ile770Val)
n.330-949T>C
c.2203A>G (p.Ile735Val)
c.1069A>G (p.Ile357Val)
n.2446A>G
2g.227280524A>TCA350849206COL4A3,MFF-DTc.2308A>T (p.Ile770Phe)
n.330-949T>A
c.2203A>T (p.Ile735Phe)
c.1069A>T (p.Ile357Phe)
n.2446A>T
2g.227280525T>ACA350849208COL4A3,MFF-DTc.2309T>A (p.Ile770Asn)
n.330-950A>T
c.2204T>A (p.Ile735Asn)
c.1070T>A (p.Ile357Asn)
n.2447T>A
2g.227280525T>CCA2146915COL4A3,MFF-DTc.2309T>C (p.Ile770Thr)
n.330-950A>G
c.2204T>C (p.Ile735Thr)
c.1070T>C (p.Ile357Thr)
n.2447T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280525T>GCA350849209COL4A3,MFF-DTc.2309T>G (p.Ile770Ser)
n.330-950A>C
c.2204T>G (p.Ile735Ser)
c.1070T>G (p.Ile357Ser)
n.2447T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280525T=CA1332849715COL4A3,MFF-DTc.2309T= (p.Ile770=)
n.330-950A=
c.2204T= (p.Ile735=)
c.1070T= (p.Ile357=)
n.2447T=
2g.227280526T>ACA431501857COL4A3,MFF-DTc.2310T>A (p.Ile770=)
n.330-951A>T
c.2205T>A (p.Ile735=)
c.1071T>A (p.Ile357=)
n.2448T>A
2g.227280526T>CCA431501859COL4A3,MFF-DTc.2310T>C (p.Ile770=)
n.330-951A>G
c.2205T>C (p.Ile735=)
c.1071T>C (p.Ile357=)
n.2448T>C
 gnomAD v4
2g.227280526T>GCA350849210COL4A3,MFF-DTc.2310T>G (p.Ile770Met)
n.330-951A>C
c.2205T>G (p.Ile735Met)
c.1071T>G (p.Ile357Met)
n.2448T>G
2g.227280526_227280543delCA2663418750COL4A3,MFF-DTc.2310_2327del (p.Gly771_Pro776del)
n.330-968_330-951del
c.2205_2222del (p.Gly736_Pro741del)
c.1071_1088del (p.Gly358_Pro363del)
n.2448_2465del
 gnomAD v4
2g.227280526_227280544delinsTGGACTCCCTGGACTTCCACA1332849716COL4A3,MFF-DTc.2310_2328delinsTGGACTCCCTGGACTTCCA (p.Ile770=)
n.330-969_330-951delinsTGGAAGTCCAGGGAGTCCA
c.2205_2223delinsTGGACTCCCTGGACTTCCA (p.Ile735=)
c.1071_1089delinsTGGACTCCCTGGACTTCCA (p.Ile357=)
n.2448_2466delinsTGGACTCCCTGGACTTCCA
2g.227280527G>ACA350849211COL4A3,MFF-DTc.2311G>A (p.Gly771Arg)
n.330-952C>T
c.2206G>A (p.Gly736Arg)
c.1072G>A (p.Gly358Arg)
n.2449G>A
 gnomAD v4
2g.227280527G>CCA350849212COL4A3,MFF-DTc.2311G>C (p.Gly771Arg)
n.330-952C>G
c.2206G>C (p.Gly736Arg)
c.1072G>C (p.Gly358Arg)
n.2449G>C
2g.227280527G>TCA350849213COL4A3,MFF-DTc.2311G>T (p.Gly771Ter)
n.330-952C>A
c.2206G>T (p.Gly736Ter)
c.1072G>T (p.Gly358Ter)
n.2449G>T
 COSMIC COSMIC
2g.227280529_227280546delCA915940920COL4A3,MFF-DTc.2313_2330del (p.Leu772_Gly777del)
n.330-969_330-952del
c.2208_2225del (p.Leu737_Gly742del)
c.1074_1091del (p.Leu359_Gly364del)
n.2451_2468del
 ClinVar dbSNP gnomAD v4
2g.227280528G>ACA350849214COL4A3,MFF-DTc.2312G>A (p.Gly771Glu)
n.330-953C>T
c.2207G>A (p.Gly736Glu)
c.1073G>A (p.Gly358Glu)
n.2450G>A
2g.227280528G>CCA350849215COL4A3,MFF-DTc.2312G>C (p.Gly771Ala)
n.330-953C>G
c.2207G>C (p.Gly736Ala)
c.1073G>C (p.Gly358Ala)
n.2450G>C
2g.227280528G>TCA350849216COL4A3,MFF-DTc.2312G>T (p.Gly771Val)
n.330-953C>A
c.2207G>T (p.Gly736Val)
c.1073G>T (p.Gly358Val)
n.2450G>T
2g.227280529A>CCA431501865COL4A3,MFF-DTc.2313A>C (p.Gly771=)
n.330-954T>G
c.2208A>C (p.Gly736=)
c.1074A>C (p.Gly358=)
n.2451A>C
 ClinVar
2g.227280529A>GCA431501866COL4A3,MFF-DTc.2313A>G (p.Gly771=)
n.330-954T>C
c.2208A>G (p.Gly736=)
c.1074A>G (p.Gly358=)
n.2451A>G
2g.227280529A>TCA431501868COL4A3,MFF-DTc.2313A>T (p.Gly771=)
n.330-954T>A
c.2208A>T (p.Gly736=)
c.1074A>T (p.Gly358=)
n.2451A>T
2g.227280529_227280547delCA913089957COL4A3,MFF-DTc.2313_2331del (p.Leu772SerfsTer?)
n.330-972_330-954del
c.2208_2226del (p.Leu737SerfsTer?)
c.1074_1092del (p.Leu359SerfsTer?)
n.2451_2469del
2g.227280529_227280547delinsACTCCCTGGACTTCCAGGTCA1332849717COL4A3,MFF-DTc.2313_2331delinsACTCCCTGGACTTCCAGGT (p.Gly771=)
n.330-972_330-954delinsACCTGGAAGTCCAGGGAGT
c.2208_2226delinsACTCCCTGGACTTCCAGGT (p.Gly736=)
c.1074_1092delinsACTCCCTGGACTTCCAGGT (p.Gly358=)
n.2451_2469delinsACTCCCTGGACTTCCAGGT
2g.227280530C>ACA350849217COL4A3,MFF-DTc.2314C>A (p.Leu772Ile)
n.330-955G>T
c.2209C>A (p.Leu737Ile)
c.1075C>A (p.Leu359Ile)
n.2452C>A
2g.227280530C=CA1332849718COL4A3,MFF-DTc.2314C= (p.Leu772=)
n.330-955G=
c.2209C= (p.Leu737=)
c.1075C= (p.Leu359=)
n.2452C=
2g.227280530C>GCA350849218COL4A3,MFF-DTc.2314C>G (p.Leu772Val)
n.330-955G>C
c.2209C>G (p.Leu737Val)
c.1075C>G (p.Leu359Val)
n.2452C>G
 gnomAD v4
2g.227280530C>TCA2146916COL4A3,MFF-DTc.2314C>T (p.Leu772Phe)
n.330-955G>A
c.2209C>T (p.Leu737Phe)
c.1075C>T (p.Leu359Phe)
n.2452C>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280539_227280556dupCA539900334COL4A3,MFF-DTc.2323_2340dup (p.Gly780_Thr781insLeuProGlyLeuProGly)
n.330-972_330-955dup
c.2218_2235dup (p.Gly745_Thr746insLeuProGlyLeuProGly)
c.1084_1101dup (p.Gly367_Thr368insLeuProGlyLeuProGly)
n.2461_2478dup
 dbSNP gnomAD v2 gnomAD v4
2g.227280539_227280556delCA658822696COL4A3,MFF-DTc.2323_2340del (p.Leu775_Gly780del)
n.330-972_330-955del
c.2218_2235del (p.Leu740_Gly745del)
c.1084_1101del (p.Leu362_Gly367del)
n.2461_2478del
 ClinVar dbSNP gnomAD v4
2g.227280531T>ACA350849219COL4A3,MFF-DTc.2315T>A (p.Leu772His)
n.330-956A>T
c.2210T>A (p.Leu737His)
c.1076T>A (p.Leu359His)
n.2453T>A
2g.227280531T>CCA350849221COL4A3,MFF-DTc.2315T>C (p.Leu772Pro)
n.330-956A>G
c.2210T>C (p.Leu737Pro)
c.1076T>C (p.Leu359Pro)
n.2453T>C
2g.227280531T>GCA350849220COL4A3,MFF-DTc.2315T>G (p.Leu772Arg)
n.330-956A>C
c.2210T>G (p.Leu737Arg)
c.1076T>G (p.Leu359Arg)
n.2453T>G
2g.227280531T=CA1332849719COL4A3,MFF-DTc.2315T= (p.Leu772=)
n.330-956A=
c.2210T= (p.Leu737=)
c.1076T= (p.Leu359=)
n.2453T=
2g.227280532C>ACA431501877COL4A3,MFF-DTc.2316C>A (p.Leu772=)
n.330-957G>T
c.2211C>A (p.Leu737=)
c.1077C>A (p.Leu359=)
n.2454C>A
2g.227280532C=CA1332849720COL4A3,MFF-DTc.2316C= (p.Leu772=)
n.330-957G=
c.2211C= (p.Leu737=)
c.1077C= (p.Leu359=)
n.2454C=
2g.227280532C>GCA431501879COL4A3,MFF-DTc.2316C>G (p.Leu772=)
n.330-957G>C
c.2211C>G (p.Leu737=)
c.1077C>G (p.Leu359=)
n.2454C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227280532C>TCA431501875COL4A3,MFF-DTc.2316C>T (p.Leu772=)
n.330-957G>A
c.2211C>T (p.Leu737=)
c.1077C>T (p.Leu359=)
n.2454C>T
 dbSNP gnomAD v3 gnomAD v4
2g.227280534dupCA350849222COL4A3,MFF-DTc.2318dup (p.Gly774TrpfsTer12)
n.330-957dup
c.2213dup (p.Gly739TrpfsTer12)
c.1079dup (p.Gly361TrpfsTer12)
n.2456dup
 dbSNP
2g.227280533C>ACA350849223COL4A3,MFF-DTc.2317C>A (p.Pro773Thr)
n.330-958G>T
c.2212C>A (p.Pro738Thr)
c.1078C>A (p.Pro360Thr)
n.2455C>A
2g.227280533C>GCA350849224COL4A3,MFF-DTc.2317C>G (p.Pro773Ala)
n.330-958G>C
c.2212C>G (p.Pro738Ala)
c.1078C>G (p.Pro360Ala)
n.2455C>G
2g.227280533C>TCA350849225COL4A3,MFF-DTc.2317C>T (p.Pro773Ser)
n.330-958G>A
c.2212C>T (p.Pro738Ser)
c.1078C>T (p.Pro360Ser)
n.2455C>T
2g.227280534C>ACA350849226COL4A3,MFF-DTc.2318C>A (p.Pro773His)
n.330-959G>T
c.2213C>A (p.Pro738His)
c.1079C>A (p.Pro360His)
n.2456C>A
2g.227280534C>GCA350849227COL4A3,MFF-DTc.2318C>G (p.Pro773Arg)
n.330-959G>C
c.2213C>G (p.Pro738Arg)
c.1079C>G (p.Pro360Arg)
n.2456C>G
2g.227280534C>TCA350849228COL4A3,MFF-DTc.2318C>T (p.Pro773Leu)
n.330-959G>A
c.2213C>T (p.Pro738Leu)
c.1079C>T (p.Pro360Leu)
n.2456C>T
 gnomAD v4
2g.227280535T>ACA431501887COL4A3,MFF-DTc.2319T>A (p.Pro773=)
n.330-960A>T
c.2214T>A (p.Pro738=)
c.1080T>A (p.Pro360=)
n.2457T>A
2g.227280535T>CCA431501889COL4A3,MFF-DTc.2319T>C (p.Pro773=)
n.330-960A>G
c.2214T>C (p.Pro738=)
c.1080T>C (p.Pro360=)
n.2457T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280535T>GCA431501891COL4A3,MFF-DTc.2319T>G (p.Pro773=)
n.330-960A>C
c.2214T>G (p.Pro738=)
c.1080T>G (p.Pro360=)
n.2457T>G
2g.227280535T=CA1332849721COL4A3,MFF-DTc.2319T= (p.Pro773=)
n.330-960A=
c.2214T= (p.Pro738=)
c.1080T= (p.Pro360=)
n.2457T=
2g.227280536G>ACA350849229COL4A3,MFF-DTc.2320G>A (p.Gly774Arg)
n.330-961C>T
c.2215G>A (p.Gly739Arg)
c.1081G>A (p.Gly361Arg)
n.2458G>A
2g.227280536G>CCA350849230COL4A3,MFF-DTc.2320G>C (p.Gly774Arg)
n.330-961C>G
c.2215G>C (p.Gly739Arg)
c.1081G>C (p.Gly361Arg)
n.2458G>C
2g.227280536G>TCA350849231COL4A3,MFF-DTc.2320G>T (p.Gly774Ter)
n.330-961C>A
c.2215G>T (p.Gly739Ter)
c.1081G>T (p.Gly361Ter)
n.2458G>T
2g.227280537G>ACA350849232COL4A3,MFF-DTc.2321G>A (p.Gly774Glu)
n.330-962C>T
c.2216G>A (p.Gly739Glu)
c.1082G>A (p.Gly361Glu)
n.2459G>A
2g.227280537G>CCA350849233COL4A3,MFF-DTc.2321G>C (p.Gly774Ala)
n.330-962C>G
c.2216G>C (p.Gly739Ala)
c.1082G>C (p.Gly361Ala)
n.2459G>C
2g.227280537G>TCA350849234COL4A3,MFF-DTc.2321G>T (p.Gly774Val)
n.330-962C>A
c.2216G>T (p.Gly739Val)
c.1082G>T (p.Gly361Val)
n.2459G>T
2g.227280538A>CCA431501899COL4A3,MFF-DTc.2322A>C (p.Gly774=)
n.330-963T>G
c.2217A>C (p.Gly739=)
c.1083A>C (p.Gly361=)
n.2460A>C
2g.227280538A>GCA431501903COL4A3,MFF-DTc.2322A>G (p.Gly774=)
n.330-963T>C
c.2217A>G (p.Gly739=)
c.1083A>G (p.Gly361=)
n.2460A>G
2g.227280538A>TCA431501901COL4A3,MFF-DTc.2322A>T (p.Gly774=)
n.330-963T>A
c.2217A>T (p.Gly739=)
c.1083A>T (p.Gly361=)
n.2460A>T
2g.227280539C>ACA350849237COL4A3,MFF-DTc.2323C>A (p.Leu775Ile)
n.330-964G>T
c.2218C>A (p.Leu740Ile)
c.1084C>A (p.Leu362Ile)
n.2461C>A
2g.227280539C>GCA350849235COL4A3,MFF-DTc.2323C>G (p.Leu775Val)
n.330-964G>C
c.2218C>G (p.Leu740Val)
c.1084C>G (p.Leu362Val)
n.2461C>G
 gnomAD v4
2g.227280539C>TCA350849236COL4A3,MFF-DTc.2323C>T (p.Leu775Phe)
n.330-964G>A
c.2218C>T (p.Leu740Phe)
c.1084C>T (p.Leu362Phe)
n.2461C>T
 gnomAD v4
2g.227280540T>ACA350849238COL4A3,MFF-DTc.2324T>A (p.Leu775His)
n.330-965A>T
c.2219T>A (p.Leu740His)
c.1085T>A (p.Leu362His)
n.2462T>A
2g.227280540T>CCA350849239COL4A3,MFF-DTc.2324T>C (p.Leu775Pro)
n.330-965A>G
c.2219T>C (p.Leu740Pro)
c.1085T>C (p.Leu362Pro)
n.2462T>C
2g.227280540T>GCA350849240COL4A3,MFF-DTc.2324T>G (p.Leu775Arg)
n.330-965A>C
c.2219T>G (p.Leu740Arg)
c.1085T>G (p.Leu362Arg)
n.2462T>G
2g.227280541T>ACA431501908COL4A3,MFF-DTc.2325T>A (p.Leu775=)
n.330-966A>T
c.2220T>A (p.Leu740=)
c.1086T>A (p.Leu362=)
n.2463T>A
2g.227280541T>CCA431501910COL4A3,MFF-DTc.2325T>C (p.Leu775=)
n.330-966A>G
c.2220T>C (p.Leu740=)
c.1086T>C (p.Leu362=)
n.2463T>C
2g.227280541T>GCA431501911COL4A3,MFF-DTc.2325T>G (p.Leu775=)
n.330-966A>C
c.2220T>G (p.Leu740=)
c.1086T>G (p.Leu362=)
n.2463T>G
2g.227280541_227280550delCA913089958COL4A3,MFF-DTc.2325_2334del (p.Pro776LeufsTer?)
n.330-975_330-966del
c.2220_2229del (p.Pro741LeufsTer?)
c.1086_1095del (p.Pro363LeufsTer?)
n.2463_2472del
2g.227280541_227280550delinsTCCAGGTCTCCA1332849722COL4A3,MFF-DTc.2325_2334delinsTCCAGGTCTC (p.Leu775=)
n.330-975_330-966delinsGAGACCTGGA
c.2220_2229delinsTCCAGGTCTC (p.Leu740=)
c.1086_1095delinsTCCAGGTCTC (p.Leu362=)
n.2463_2472delinsTCCAGGTCTC
2g.227280542C>ACA350849241COL4A3,MFF-DTc.2326C>A (p.Pro776Thr)
n.330-967G>T
c.2221C>A (p.Pro741Thr)
c.1087C>A (p.Pro363Thr)
n.2464C>A
2g.227280542C>GCA350849242COL4A3,MFF-DTc.2326C>G (p.Pro776Ala)
n.330-967G>C
c.2221C>G (p.Pro741Ala)
c.1087C>G (p.Pro363Ala)
n.2464C>G
2g.227280542C>TCA350849243COL4A3,MFF-DTc.2326C>T (p.Pro776Ser)
n.330-967G>A
c.2221C>T (p.Pro741Ser)
c.1087C>T (p.Pro363Ser)
n.2464C>T
2g.227280544_227280552delCA658822697COL4A3,MFF-DTc.2328_2336del (p.Gly777_Pro779del)
n.330-975_330-967del
c.2223_2231del (p.Gly742_Pro744del)
c.1089_1097del (p.Gly364_Pro366del)
n.2466_2474del
 ClinVar dbSNP
2g.227280543C>ACA350849244COL4A3,MFF-DTc.2327C>A (p.Pro776Gln)
n.330-968G>T
c.2222C>A (p.Pro741Gln)
c.1088C>A (p.Pro363Gln)
n.2465C>A
2g.227280543C>GCA350849245COL4A3,MFF-DTc.2327C>G (p.Pro776Arg)
n.330-968G>C
c.2222C>G (p.Pro741Arg)
c.1088C>G (p.Pro363Arg)
n.2465C>G
2g.227280543C>TCA350849246COL4A3,MFF-DTc.2327C>T (p.Pro776Leu)
n.330-968G>A
c.2222C>T (p.Pro741Leu)
c.1088C>T (p.Pro363Leu)
n.2465C>T
2g.227280544A=CA1332849723COL4A3,MFF-DTc.2328A= (p.Pro776=)
n.330-969T=
c.2223A= (p.Pro741=)
c.1089A= (p.Pro363=)
n.2466A=
2g.227280544A>CCA431501921COL4A3,MFF-DTc.2328A>C (p.Pro776=)
n.330-969T>G
c.2223A>C (p.Pro741=)
c.1089A>C (p.Pro363=)
n.2466A>C
2g.227280544A>GCA431501922COL4A3,MFF-DTc.2328A>G (p.Pro776=)
n.330-969T>C
c.2223A>G (p.Pro741=)
c.1089A>G (p.Pro363=)
n.2466A>G
 ClinVar dbSNP
2g.227280544A>TCA431501924COL4A3,MFF-DTc.2328A>T (p.Pro776=)
n.330-969T>A
c.2223A>T (p.Pro741=)
c.1089A>T (p.Pro363=)
n.2466A>T
2g.227280545G>ACA350849247COL4A3,MFF-DTc.2329G>A (p.Gly777Ser)
n.330-970C>T
c.2224G>A (p.Gly742Ser)
c.1090G>A (p.Gly364Ser)
n.2467G>A
2g.227280545G>CCA350849248COL4A3,MFF-DTc.2329G>C (p.Gly777Arg)
n.330-970C>G
c.2224G>C (p.Gly742Arg)
c.1090G>C (p.Gly364Arg)
n.2467G>C
2g.227280545G>TCA350849249COL4A3,MFF-DTc.2329G>T (p.Gly777Cys)
n.330-970C>A
c.2224G>T (p.Gly742Cys)
c.1090G>T (p.Gly364Cys)
n.2467G>T
 gnomAD v4
2g.227280546G>ACA350849250COL4A3,MFF-DTc.2330G>A (p.Gly777Asp)
n.330-971C>T
c.2225G>A (p.Gly742Asp)
c.1091G>A (p.Gly364Asp)
n.2468G>A
 ClinVar dbSNP gnomAD v4
2g.227280546G>CCA350849252COL4A3,MFF-DTc.2330G>C (p.Gly777Ala)
n.330-971C>G
c.2225G>C (p.Gly742Ala)
c.1091G>C (p.Gly364Ala)
n.2468G>C
2g.227280546G>TCA350849251COL4A3,MFF-DTc.2330G>T (p.Gly777Val)
n.330-971C>A
c.2225G>T (p.Gly742Val)
c.1091G>T (p.Gly364Val)
n.2468G>T
 ClinVar dbSNP gnomAD v4
2g.227280547T>ACA431501936COL4A3,MFF-DTc.2331T>A (p.Gly777=)
n.330-972A>T
c.2226T>A (p.Gly742=)
c.1092T>A (p.Gly364=)
n.2469T>A
2g.227280547T>CCA431501932COL4A3,MFF-DTc.2331T>C (p.Gly777=)
n.330-972A>G
c.2226T>C (p.Gly742=)
c.1092T>C (p.Gly364=)
n.2469T>C
2g.227280547T>GCA431501934COL4A3,MFF-DTc.2331T>G (p.Gly777=)
n.330-972A>C
c.2226T>G (p.Gly742=)
c.1092T>G (p.Gly364=)
n.2469T>G
2g.227280548C>ACA350849253COL4A3,MFF-DTc.2332C>A (p.Leu778Ile)
n.330-973G>T
c.2227C>A (p.Leu743Ile)
c.1093C>A (p.Leu365Ile)
n.2470C>A
 gnomAD v4
2g.227280548C>GCA350849255COL4A3,MFF-DTc.2332C>G (p.Leu778Val)
n.330-973G>C
c.2227C>G (p.Leu743Val)
c.1093C>G (p.Leu365Val)
n.2470C>G
2g.227280548C>TCA350849254COL4A3,MFF-DTc.2332C>T (p.Leu778Phe)
n.330-973G>A
c.2227C>T (p.Leu743Phe)
c.1093C>T (p.Leu365Phe)
n.2470C>T
2g.227280549T>ACA350849256COL4A3,MFF-DTc.2333T>A (p.Leu778His)
n.330-974A>T
c.2228T>A (p.Leu743His)
c.1094T>A (p.Leu365His)
n.2471T>A
2g.227280549T>CCA350849257COL4A3,MFF-DTc.2333T>C (p.Leu778Pro)
n.330-974A>G
c.2228T>C (p.Leu743Pro)
c.1094T>C (p.Leu365Pro)
n.2471T>C
2g.227280549T>GCA350849258COL4A3,MFF-DTc.2333T>G (p.Leu778Arg)
n.330-974A>C
c.2228T>G (p.Leu743Arg)
c.1094T>G (p.Leu365Arg)
n.2471T>G
2g.227280550C>ACA431501945COL4A3,MFF-DTc.2334C>A (p.Leu778=)
n.330-975G>T
c.2229C>A (p.Leu743=)
c.1095C>A (p.Leu365=)
n.2472C>A
2g.227280550C>GCA431501947COL4A3,MFF-DTc.2334C>G (p.Leu778=)
n.330-975G>C
c.2229C>G (p.Leu743=)
c.1095C>G (p.Leu365=)
n.2472C>G
2g.227280550C>TCA431501949COL4A3,MFF-DTc.2334C>T (p.Leu778=)
n.330-975G>A
c.2229C>T (p.Leu743=)
c.1095C>T (p.Leu365=)
n.2472C>T
 gnomAD v4
2g.227280552delCA2573051884COL4A3,MFF-DTc.2336del (p.Pro779LeufsTer?)
n.330-975del
c.2231del (p.Pro744LeufsTer?)
c.1097del (p.Pro366LeufsTer?)
n.2474del
 ClinVar dbSNP
2g.227280551C>ACA350849259COL4A3,MFF-DTc.2335C>A (p.Pro779Thr)
n.330-976G>T
c.2230C>A (p.Pro744Thr)
c.1096C>A (p.Pro366Thr)
n.2473C>A
2g.227280551C>GCA350849260COL4A3,MFF-DTc.2335C>G (p.Pro779Ala)
n.330-976G>C
c.2230C>G (p.Pro744Ala)
c.1096C>G (p.Pro366Ala)
n.2473C>G
2g.227280551C>TCA350849261COL4A3,MFF-DTc.2335C>T (p.Pro779Ser)
n.330-976G>A
c.2230C>T (p.Pro744Ser)
c.1096C>T (p.Pro366Ser)
n.2473C>T
2g.227280552C>ACA350849262COL4A3,MFF-DTc.2336C>A (p.Pro779His)
n.330-977G>T
c.2231C>A (p.Pro744His)
c.1097C>A (p.Pro366His)
n.2474C>A
2g.227280552C>GCA350849263COL4A3,MFF-DTc.2336C>G (p.Pro779Arg)
n.330-977G>C
c.2231C>G (p.Pro744Arg)
c.1097C>G (p.Pro366Arg)
n.2474C>G
2g.227280552C>TCA350849264COL4A3,MFF-DTc.2336C>T (p.Pro779Leu)
n.330-977G>A
c.2231C>T (p.Pro744Leu)
c.1097C>T (p.Pro366Leu)
n.2474C>T
2g.227280553T>ACA431501964COL4A3,MFF-DTc.2337T>A (p.Pro779=)
n.330-978A>T
c.2232T>A (p.Pro744=)
c.1098T>A (p.Pro366=)
n.2475T>A
2g.227280553T>CCA431501959COL4A3,MFF-DTc.2337T>C (p.Pro779=)
n.330-978A>G
c.2232T>C (p.Pro744=)
c.1098T>C (p.Pro366=)
n.2475T>C
 gnomAD v4
2g.227280553T>GCA2146917COL4A3,MFF-DTc.2337T>G (p.Pro779=)
n.330-978A>C
c.2232T>G (p.Pro744=)
c.1098T>G (p.Pro366=)
n.2475T>G
 dbSNP ExAC gnomAD v4
2g.227280553T=CA1332849724COL4A3,MFF-DTc.2337T= (p.Pro779=)
n.330-978A=
c.2232T= (p.Pro744=)
c.1098T= (p.Pro366=)
n.2475T=
2g.227280554G>ACA350849265COL4A3,MFF-DTc.2338G>A (p.Gly780Arg)
n.330-979C>T
c.2233G>A (p.Gly745Arg)
c.1099G>A (p.Gly367Arg)
n.2476G>A
2g.227280554G>CCA350849266COL4A3,MFF-DTc.2338G>C (p.Gly780Arg)
n.330-979C>G
c.2233G>C (p.Gly745Arg)
c.1099G>C (p.Gly367Arg)
n.2476G>C
2g.227280554G>TCA350849267COL4A3,MFF-DTc.2338G>T (p.Gly780Ter)
n.330-979C>A
c.2233G>T (p.Gly745Ter)
c.1099G>T (p.Gly367Ter)
n.2476G>T
2g.227280555delCA2663418771COL4A3,MFF-DTc.2339del (p.Gly780GlufsTer?)
n.330-979del
c.2234del (p.Gly745GlufsTer?)
c.1100del (p.Gly367GlufsTer?)
n.2477del
 gnomAD v4
2g.227280558_227280566delCA2586971419COL4A3,MFF-DTc.2342_2350del (p.Thr781_Gly783del)
n.330-987_330-979del
c.2237_2245del (p.Thr746_Gly748del)
c.1103_1111del (p.Thr368_Gly370del)
n.2480_2488del
2g.227280555G>ACA350849268COL4A3,MFF-DTc.2339G>A (p.Gly780Glu)
n.330-980C>T
c.2234G>A (p.Gly745Glu)
c.1100G>A (p.Gly367Glu)
n.2477G>A
 COSMIC COSMIC
2g.227280555G>CCA350849270COL4A3,MFF-DTc.2339G>C (p.Gly780Ala)
n.330-980C>G
c.2234G>C (p.Gly745Ala)
c.1100G>C (p.Gly367Ala)
n.2477G>C
2g.227280555G>TCA350849269COL4A3,MFF-DTc.2339G>T (p.Gly780Val)
n.330-980C>A
c.2234G>T (p.Gly745Val)
c.1100G>T (p.Gly367Val)
n.2477G>T
 COSMIC COSMIC
2g.227280556A>CCA431501973COL4A3,MFF-DTc.2340A>C (p.Gly780=)
n.330-981T>G
c.2235A>C (p.Gly745=)
c.1101A>C (p.Gly367=)
n.2478A>C
2g.227280556A>GCA431501974COL4A3,MFF-DTc.2340A>G (p.Gly780=)
n.330-981T>C
c.2235A>G (p.Gly745=)
c.1101A>G (p.Gly367=)
n.2478A>G
2g.227280556A>TCA431501976COL4A3,MFF-DTc.2340A>T (p.Gly780=)
n.330-981T>A
c.2235A>T (p.Gly745=)
c.1101A>T (p.Gly367=)
n.2478A>T
2g.227280557A=CA1332849725COL4A3,MFF-DTc.2341A= (p.Thr781=)
n.330-982T=
c.2236A= (p.Thr746=)
c.1102A= (p.Thr368=)
n.2479A=
2g.227280557A>CCA350849271COL4A3,MFF-DTc.2341A>C (p.Thr781Pro)
n.330-982T>G
c.2236A>C (p.Thr746Pro)
c.1102A>C (p.Thr368Pro)
n.2479A>C
 dbSNP gnomAD v3 gnomAD v4
2g.227280557A>GCA350849272COL4A3,MFF-DTc.2341A>G (p.Thr781Ala)
n.330-982T>C
c.2236A>G (p.Thr746Ala)
c.1102A>G (p.Thr368Ala)
n.2479A>G
2g.227280557A>TCA350849273COL4A3,MFF-DTc.2341A>T (p.Thr781Ser)
n.330-982T>A
c.2236A>T (p.Thr746Ser)
c.1102A>T (p.Thr368Ser)
n.2479A>T
 gnomAD v4
2g.227280558C>ACA350849274COL4A3,MFF-DTc.2342C>A (p.Thr781Asn)
n.330-983G>T
c.2237C>A (p.Thr746Asn)
c.1103C>A (p.Thr368Asn)
n.2480C>A
2g.227280558C=CA1332849726COL4A3,MFF-DTc.2342C= (p.Thr781=)
n.330-983G=
c.2237C= (p.Thr746=)
c.1103C= (p.Thr368=)
n.2480C=
2g.227280558C>GCA350849275COL4A3,MFF-DTc.2342C>G (p.Thr781Ser)
n.330-983G>C
c.2237C>G (p.Thr746Ser)
c.1103C>G (p.Thr368Ser)
n.2480C>G
 dbSNP gnomAD v2
2g.227280558C>TCA350849276COL4A3,MFF-DTc.2342C>T (p.Thr781Ile)
n.330-983G>A
c.2237C>T (p.Thr746Ile)
c.1103C>T (p.Thr368Ile)
n.2480C>T
2g.227280559T>ACA431501985COL4A3,MFF-DTc.2343T>A (p.Thr781=)
n.330-984A>T
c.2238T>A (p.Thr746=)
c.1104T>A (p.Thr368=)
n.2481T>A
 gnomAD v4
2g.227280559T>CCA431501986COL4A3,MFF-DTc.2343T>C (p.Thr781=)
n.330-984A>G
c.2238T>C (p.Thr746=)
c.1104T>C (p.Thr368=)
n.2481T>C
2g.227280559T>GCA431501987COL4A3,MFF-DTc.2343T>G (p.Thr781=)
n.330-984A>C
c.2238T>G (p.Thr746=)
c.1104T>G (p.Thr368=)
n.2481T>G
2g.227280560C>ACA350849277COL4A3,MFF-DTc.2344C>A (p.Pro782Thr)
n.330-985G>T
c.2239C>A (p.Pro747Thr)
c.1105C>A (p.Pro369Thr)
n.2482C>A
2g.227280560C>GCA350849278COL4A3,MFF-DTc.2344C>G (p.Pro782Ala)
n.330-985G>C
c.2239C>G (p.Pro747Ala)
c.1105C>G (p.Pro369Ala)
n.2482C>G
2g.227280560C>TCA350849279COL4A3,MFF-DTc.2344C>T (p.Pro782Ser)
n.330-985G>A
c.2239C>T (p.Pro747Ser)
c.1105C>T (p.Pro369Ser)
n.2482C>T
2g.227280561C>ACA350849282COL4A3,MFF-DTc.2345C>A (p.Pro782Gln)
n.330-986G>T
c.2240C>A (p.Pro747Gln)
c.1106C>A (p.Pro369Gln)
n.2483C>A
2g.227280561C>GCA350849281COL4A3,MFF-DTc.2345C>G (p.Pro782Arg)
n.330-986G>C
c.2240C>G (p.Pro747Arg)
c.1106C>G (p.Pro369Arg)
n.2483C>G
2g.227280561C>TCA350849280COL4A3,MFF-DTc.2345C>T (p.Pro782Leu)
n.330-986G>A
c.2240C>T (p.Pro747Leu)
c.1106C>T (p.Pro369Leu)
n.2483C>T
2g.227280562A>CCA431502001COL4A3,MFF-DTc.2346A>C (p.Pro782=)
n.330-987T>G
c.2241A>C (p.Pro747=)
c.1107A>C (p.Pro369=)
n.2484A>C
2g.227280562A>GCA431502003COL4A3,MFF-DTc.2346A>G (p.Pro782=)
n.330-987T>C
c.2241A>G (p.Pro747=)
c.1107A>G (p.Pro369=)
n.2484A>G
2g.227280562A>TCA431501999COL4A3,MFF-DTc.2346A>T (p.Pro782=)
n.330-987T>A
c.2241A>T (p.Pro747=)
c.1107A>T (p.Pro369=)
n.2484A>T
2g.227280563G>ACA350849283COL4A3,MFF-DTc.2347G>A (p.Gly783Arg)
n.330-988C>T
c.2242G>A (p.Gly748Arg)
c.1108G>A (p.Gly370Arg)
n.2485G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280563G>CCA350849284COL4A3,MFF-DTc.2347G>C (p.Gly783Arg)
n.330-988C>G
c.2242G>C (p.Gly748Arg)
c.1108G>C (p.Gly370Arg)
n.2485G>C
2g.227280563G=CA1332849727COL4A3,MFF-DTc.2347G= (p.Gly783=)
n.330-988C=
c.2242G= (p.Gly748=)
c.1108G= (p.Gly370=)
n.2485G=
2g.227280563G>TCA350849285COL4A3,MFF-DTc.2347G>T (p.Gly783Ter)
n.330-988C>A
c.2242G>T (p.Gly748Ter)
c.1108G>T (p.Gly370Ter)
n.2485G>T
2g.227280564G>ACA350849286COL4A3,MFF-DTc.2348G>A (p.Gly783Glu)
n.330-989C>T
c.2243G>A (p.Gly748Glu)
c.1109G>A (p.Gly370Glu)
n.2486G>A
 COSMIC COSMIC
2g.227280564G>CCA350849287COL4A3,MFF-DTc.2348G>C (p.Gly783Ala)
n.330-989C>G
c.2243G>C (p.Gly748Ala)
c.1109G>C (p.Gly370Ala)
n.2486G>C
 gnomAD v4
2g.227280564G>TCA350849288COL4A3,MFF-DTc.2348G>T (p.Gly783Val)
n.330-989C>A
c.2243G>T (p.Gly748Val)
c.1109G>T (p.Gly370Val)
n.2486G>T
2g.227280565A>CCA431502015COL4A3,MFF-DTc.2349A>C (p.Gly783=)
n.330-990T>G
c.2244A>C (p.Gly748=)
c.1110A>C (p.Gly370=)
n.2487A>C
2g.227280565A>GCA431502017COL4A3,MFF-DTc.2349A>G (p.Gly783=)
n.330-990T>C
c.2244A>G (p.Gly748=)
c.1110A>G (p.Gly370=)
n.2487A>G
2g.227280565A>TCA431502019COL4A3,MFF-DTc.2349A>T (p.Gly783=)
n.330-990T>A
c.2244A>T (p.Gly748=)
c.1110A>T (p.Gly370=)
n.2487A>T
2g.227280566A=CA1332849728COL4A3,MFF-DTc.2350A= (p.Asn784=)
n.330-991T=
c.2245A= (p.Asn749=)
c.1111A= (p.Asn371=)
n.2488A=
2g.227280566A>CCA350849290COL4A3,MFF-DTc.2350A>C (p.Asn784His)
n.330-991T>G
c.2245A>C (p.Asn749His)
c.1111A>C (p.Asn371His)
n.2488A>C
 dbSNP gnomAD v2 gnomAD v4
2g.227280566A>GCA66598732COL4A3,MFF-DTc.2350A>G (p.Asn784Asp)
n.330-991T>C
c.2245A>G (p.Asn749Asp)
c.1111A>G (p.Asn371Asp)
n.2488A>G
 ClinVar dbSNP gnomAD v2
2g.227280566A>TCA350849289COL4A3,MFF-DTc.2350A>T (p.Asn784Tyr)
n.330-991T>A
c.2245A>T (p.Asn749Tyr)
c.1111A>T (p.Asn371Tyr)
n.2488A>T
2g.227280567A>CCA350849291COL4A3,MFF-DTc.2351A>C (p.Asn784Thr)
n.330-992T>G
c.2246A>C (p.Asn749Thr)
c.1112A>C (p.Asn371Thr)
n.2489A>C
2g.227280567A>GCA350849292COL4A3,MFF-DTc.2351A>G (p.Asn784Ser)
n.330-992T>C
c.2246A>G (p.Asn749Ser)
c.1112A>G (p.Asn371Ser)
n.2489A>G
2g.227280567A>TCA350849293COL4A3,MFF-DTc.2351A>T (p.Asn784Ile)
n.330-992T>A
c.2246A>T (p.Asn749Ile)
c.1112A>T (p.Asn371Ile)
n.2489A>T
2g.227280568T>ACA350849294COL4A3,MFF-DTc.2352T>A (p.Asn784Lys)
n.330-993A>T
c.2247T>A (p.Asn749Lys)
c.1113T>A (p.Asn371Lys)
n.2490T>A
2g.227280568T>CCA431502026COL4A3,MFF-DTc.2352T>C (p.Asn784=)
n.330-993A>G
c.2247T>C (p.Asn749=)
c.1113T>C (p.Asn371=)
n.2490T>C
 ClinVar
2g.227280568T>GCA350849295COL4A3,MFF-DTc.2352T>G (p.Asn784Lys)
n.330-993A>C
c.2247T>G (p.Asn749Lys)
c.1113T>G (p.Asn371Lys)
n.2490T>G
 ClinVar gnomAD v4
2g.227280569G>ACA2146918COL4A3,MFF-DTc.2353G>A (p.Glu785Lys)
n.330-994C>T
c.2248G>A (p.Glu750Lys)
c.1114G>A (p.Glu372Lys)
n.2491G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280569G>CCA350849297COL4A3,MFF-DTc.2353G>C (p.Glu785Gln)
n.330-994C>G
c.2248G>C (p.Glu750Gln)
c.1114G>C (p.Glu372Gln)
n.2491G>C
2g.227280569G=CA1332849729COL4A3,MFF-DTc.2353G= (p.Glu785=)
n.330-994C=
c.2248G= (p.Glu750=)
c.1114G= (p.Glu372=)
n.2491G=
2g.227280569G>TCA350849296COL4A3,MFF-DTc.2353G>T (p.Glu785Ter)
n.330-994C>A
c.2248G>T (p.Glu750Ter)
c.1114G>T (p.Glu372Ter)
n.2491G>T
 ClinVar dbSNP
2g.227280570A>CCA350849298COL4A3,MFF-DTc.2354A>C (p.Glu785Ala)
n.330-995T>G
c.2249A>C (p.Glu750Ala)
c.1115A>C (p.Glu372Ala)
n.2492A>C
2g.227280570A>GCA350849299COL4A3,MFF-DTc.2354A>G (p.Glu785Gly)
n.330-995T>C
c.2249A>G (p.Glu750Gly)
c.1115A>G (p.Glu372Gly)
n.2492A>G
2g.227280570A>TCA350849300COL4A3,MFF-DTc.2354A>T (p.Glu785Val)
n.330-995T>A
c.2249A>T (p.Glu750Val)
c.1115A>T (p.Glu372Val)
n.2492A>T
2g.227280571A>CCA350849301COL4A3,MFF-DTc.2355A>C (p.Glu785Asp)
n.330-996T>G
c.2250A>C (p.Glu750Asp)
c.1116A>C (p.Glu372Asp)
n.2493A>C
 ClinVar dbSNP
2g.227280571A>GCA431502039COL4A3,MFF-DTc.2355A>G (p.Glu785=)
n.330-996T>C
c.2250A>G (p.Glu750=)
c.1116A>G (p.Glu372=)
n.2493A>G
2g.227280571A>TCA350849302COL4A3,MFF-DTc.2355A>T (p.Glu785Asp)
n.330-996T>A
c.2250A>T (p.Glu750Asp)
c.1116A>T (p.Glu372Asp)
n.2493A>T
2g.227280572G>ACA350849303COL4A3,MFF-DTc.2356G>A (p.Gly786Arg)
n.330-997C>T
c.2251G>A (p.Gly751Arg)
c.1117G>A (p.Gly373Arg)
n.2494G>A
2g.227280572G>CCA350849304COL4A3,MFF-DTc.2356G>C (p.Gly786Arg)
n.330-997C>G
c.2251G>C (p.Gly751Arg)
c.1117G>C (p.Gly373Arg)
n.2494G>C
2g.227280572G>TCA350849305COL4A3,MFF-DTc.2356G>T (p.Gly786Trp)
n.330-997C>A
c.2251G>T (p.Gly751Trp)
c.1117G>T (p.Gly373Trp)
n.2494G>T
2g.227280573G>ACA350849306COL4A3,MFF-DTc.2357G>A (p.Gly786Glu)
n.330-998C>T
c.2252G>A (p.Gly751Glu)
c.1118G>A (p.Gly373Glu)
n.2495G>A
2g.227280573G>CCA350849307COL4A3,MFF-DTc.2357G>C (p.Gly786Ala)
n.330-998C>G
c.2252G>C (p.Gly751Ala)
c.1118G>C (p.Gly373Ala)
n.2495G>C
2g.227280573G>TCA350849308COL4A3,MFF-DTc.2357G>T (p.Gly786Val)
n.330-998C>A
c.2252G>T (p.Gly751Val)
c.1118G>T (p.Gly373Val)
n.2495G>T
2g.227280574G>ACA431502052COL4A3,MFF-DTc.2358G>A (p.Gly786=)
n.330-999C>T
c.2253G>A (p.Gly751=)
c.1119G>A (p.Gly373=)
n.2496G>A
2g.227280574G>CCA431502050COL4A3,MFF-DTc.2358G>C (p.Gly786=)
n.330-999C>G
c.2253G>C (p.Gly751=)
c.1119G>C (p.Gly373=)
n.2496G>C
2g.227280574G>TCA431502054COL4A3,MFF-DTc.2358G>T (p.Gly786=)
n.330-999C>A
c.2253G>T (p.Gly751=)
c.1119G>T (p.Gly373=)
n.2496G>T
2g.227280575C>ACA350849310COL4A3,MFF-DTc.2359C>A (p.Leu787Ile)
n.330-1000G>T
c.2254C>A (p.Leu752Ile)
c.1120C>A (p.Leu374Ile)
n.2497C>A
2g.227280575C=CA1332849730COL4A3,MFF-DTc.2359C= (p.Leu787=)
n.330-1000G=
c.2254C= (p.Leu752=)
c.1120C= (p.Leu374=)
n.2497C=
2g.227280575C>GCA350849309COL4A3,MFF-DTc.2359C>G (p.Leu787Val)
n.330-1000G>C
c.2254C>G (p.Leu752Val)
c.1120C>G (p.Leu374Val)
n.2497C>G
2g.227280575C>TCA66598744COL4A3,MFF-DTc.2359C>T (p.Leu787Phe)
n.330-1000G>A
c.2254C>T (p.Leu752Phe)
c.1120C>T (p.Leu374Phe)
n.2497C>T
 dbSNP gnomAD v4 COSMIC COSMIC
2g.227280576T>ACA350849312COL4A3,MFF-DTc.2360T>A (p.Leu787His)
n.330-1001A>T
c.2255T>A (p.Leu752His)
c.1121T>A (p.Leu374His)
n.2498T>A
2g.227280576T>CCA2146919COL4A3,MFF-DTc.2360T>C (p.Leu787Pro)
n.330-1001A>G
c.2255T>C (p.Leu752Pro)
c.1121T>C (p.Leu374Pro)
n.2498T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280576T>GCA350849311COL4A3,MFF-DTc.2360T>G (p.Leu787Arg)
n.330-1001A>C
c.2255T>G (p.Leu752Arg)
c.1121T>G (p.Leu374Arg)
n.2498T>G
2g.227280576T=CA1332849731COL4A3,MFF-DTc.2360T= (p.Leu787=)
n.330-1001A=
c.2255T= (p.Leu752=)
c.1121T= (p.Leu374=)
n.2498T=
2g.227280577T>ACA431502066COL4A3,MFF-DTc.2361T>A (p.Leu787=)
n.330-1002A>T
c.2256T>A (p.Leu752=)
c.1122T>A (p.Leu374=)
n.2499T>A
2g.227280577T>CCA431502065COL4A3,MFF-DTc.2361T>C (p.Leu787=)
n.330-1002A>G
c.2256T>C (p.Leu752=)
c.1122T>C (p.Leu374=)
n.2499T>C
2g.227280577T>GCA431502063COL4A3,MFF-DTc.2361T>G (p.Leu787=)
n.330-1002A>C
c.2256T>G (p.Leu752=)
c.1122T>G (p.Leu374=)
n.2499T>G
2g.227280578G>ACA350849313COL4A3,MFF-DTc.2362G>A (p.Asp788Asn)
n.330-1003C>T
c.2257G>A (p.Asp753Asn)
c.1123G>A (p.Asp375Asn)
n.2500G>A
2g.227280578G>CCA350849314COL4A3,MFF-DTc.2362G>C (p.Asp788His)
n.330-1003C>G
c.2257G>C (p.Asp753His)
c.1123G>C (p.Asp375His)
n.2500G>C
 dbSNP gnomAD v4
2g.227280578G=CA1332849732COL4A3,MFF-DTc.2362G= (p.Asp788=)
n.330-1003C=
c.2257G= (p.Asp753=)
c.1123G= (p.Asp375=)
n.2500G=
2g.227280578G>TCA350849315COL4A3,MFF-DTc.2362G>T (p.Asp788Tyr)
n.330-1003C>A
c.2257G>T (p.Asp753Tyr)
c.1123G>T (p.Asp375Tyr)
n.2500G>T
2g.227280579A>CCA350849316COL4A3,MFF-DTc.2363A>C (p.Asp788Ala)
n.330-1004T>G
c.2258A>C (p.Asp753Ala)
c.1124A>C (p.Asp375Ala)
n.2501A>C
2g.227280579A>GCA350849317COL4A3,MFF-DTc.2363A>G (p.Asp788Gly)
n.330-1004T>C
c.2258A>G (p.Asp753Gly)
c.1124A>G (p.Asp375Gly)
n.2501A>G
2g.227280579A>TCA350849318COL4A3,MFF-DTc.2363A>T (p.Asp788Val)
n.330-1004T>A
c.2258A>T (p.Asp753Val)
c.1124A>T (p.Asp375Val)
n.2501A>T
2g.227280580T>ACA350849319COL4A3,MFF-DTc.2364T>A (p.Asp788Glu)
n.330-1005A>T
c.2259T>A (p.Asp753Glu)
c.1125T>A (p.Asp375Glu)
n.2502T>A
2g.227280580T>CCA431502068COL4A3,MFF-DTc.2364T>C (p.Asp788=)
n.330-1005A>G
c.2259T>C (p.Asp753=)
c.1125T>C (p.Asp375=)
n.2502T>C
 gnomAD v4
2g.227280580T>GCA350849320COL4A3,MFF-DTc.2364T>G (p.Asp788Glu)
n.330-1005A>C
c.2259T>G (p.Asp753Glu)
c.1125T>G (p.Asp375Glu)
n.2502T>G
2g.227280581G>ACA350849321COL4A3,MFF-DTc.2365G>A (p.Gly789Arg)
n.330-1006C>T
c.2260G>A (p.Gly754Arg)
c.1126G>A (p.Gly376Arg)
n.2503G>A
 COSMIC COSMIC
2g.227280581G>CCA350849322COL4A3,MFF-DTc.2365G>C (p.Gly789Arg)
n.330-1006C>G
c.2260G>C (p.Gly754Arg)
c.1126G>C (p.Gly376Arg)
n.2503G>C
2g.227280581G>TCA350849323COL4A3,MFF-DTc.2365G>T (p.Gly789Ter)
n.330-1006C>A
c.2260G>T (p.Gly754Ter)
c.1126G>T (p.Gly376Ter)
n.2503G>T
2g.227280582G>ACA350849326COL4A3,MFF-DTc.2366G>A (p.Gly789Glu)
n.330-1007C>T
c.2261G>A (p.Gly754Glu)
c.1127G>A (p.Gly376Glu)
n.2504G>A
2g.227280582G>CCA350849325COL4A3,MFF-DTc.2366G>C (p.Gly789Ala)
n.330-1007C>G
c.2261G>C (p.Gly754Ala)
c.1127G>C (p.Gly376Ala)
n.2504G>C
2g.227280582G>TCA350849324COL4A3,MFF-DTc.2366G>T (p.Gly789Val)
n.330-1007C>A
c.2261G>T (p.Gly754Val)
c.1127G>T (p.Gly376Val)
n.2504G>T
2g.227280583A>CCA431502083COL4A3,MFF-DTc.2367A>C (p.Gly789=)
n.330-1008T>G
c.2262A>C (p.Gly754=)
c.1128A>C (p.Gly376=)
n.2505A>C
2g.227280583A>GCA431502085COL4A3,MFF-DTc.2367A>G (p.Gly789=)
n.330-1008T>C
c.2262A>G (p.Gly754=)
c.1128A>G (p.Gly376=)
n.2505A>G
 gnomAD v4
2g.227280583A>TCA431502086COL4A3,MFF-DTc.2367A>T (p.Gly789=)
n.330-1008T>A
c.2262A>T (p.Gly754=)
c.1128A>T (p.Gly376=)
n.2505A>T
2g.227280584C>ACA350849327COL4A3,MFF-DTc.2368C>A (p.Pro790Thr)
n.330-1009G>T
c.2263C>A (p.Pro755Thr)
c.1129C>A (p.Pro377Thr)
n.2506C>A
2g.227280584C=CA1332849733COL4A3,MFF-DTc.2368C= (p.Pro790=)
n.330-1009G=
c.2263C= (p.Pro755=)
c.1129C= (p.Pro377=)
n.2506C=
2g.227280584C>GCA350849328COL4A3,MFF-DTc.2368C>G (p.Pro790Ala)
n.330-1009G>C
c.2263C>G (p.Pro755Ala)
c.1129C>G (p.Pro377Ala)
n.2506C>G
2g.227280584C>TCA350849329COL4A3,MFF-DTc.2368C>T (p.Pro790Ser)
n.330-1009G>A
c.2263C>T (p.Pro755Ser)
c.1129C>T (p.Pro377Ser)
n.2506C>T
 dbSNP gnomAD v4
2g.227280585C>ACA350849330COL4A3,MFF-DTc.2369C>A (p.Pro790Gln)
n.330-1010G>T
c.2264C>A (p.Pro755Gln)
c.1130C>A (p.Pro377Gln)
n.2507C>A
2g.227280585C>GCA350849331COL4A3,MFF-DTc.2369C>G (p.Pro790Arg)
n.330-1010G>C
c.2264C>G (p.Pro755Arg)
c.1130C>G (p.Pro377Arg)
n.2507C>G
 gnomAD v4
2g.227280585C>TCA350849332COL4A3,MFF-DTc.2369C>T (p.Pro790Leu)
n.330-1010G>A
c.2264C>T (p.Pro755Leu)
c.1130C>T (p.Pro377Leu)
n.2507C>T
2g.227280586A>CCA431502095COL4A3,MFF-DTc.2370A>C (p.Pro790=)
n.330-1011T>G
c.2265A>C (p.Pro755=)
c.1131A>C (p.Pro377=)
n.2508A>C
2g.227280586A>GCA431502099COL4A3,MFF-DTc.2370A>G (p.Pro790=)
n.330-1011T>C
c.2265A>G (p.Pro755=)
c.1131A>G (p.Pro377=)
n.2508A>G
 ClinVar
2g.227280586A>TCA431502101COL4A3,MFF-DTc.2370A>T (p.Pro790=)
n.330-1011T>A
c.2265A>T (p.Pro755=)
c.1131A>T (p.Pro377=)
n.2508A>T
2g.227280588_227280594delCA2586971420COL4A3,MFF-DTc.2372_2374+4del
n.330-1017_330-1011del
c.2267_2269+4del
c.1133_1135+4del
n.2510_2512+4del
2g.227280587C>ACA431502104COL4A3,MFF-DTc.2371C>A (p.Arg791=)
n.330-1012G>T
c.2266C>A (p.Arg756=)
c.1132C>A (p.Arg378=)
n.2509C>A
2g.227280587C=CA1332849734COL4A3,MFF-DTc.2371C= (p.Arg791=)
n.330-1012G=
c.2266C= (p.Arg756=)
c.1132C= (p.Arg378=)
n.2509C=
2g.227280587C>GCA350849333COL4A3,MFF-DTc.2371C>G (p.Arg791Gly)
n.330-1012G>C
c.2266C>G (p.Arg756Gly)
c.1132C>G (p.Arg378Gly)
n.2509C>G
2g.227280587C>TCA16609389COL4A3,MFF-DTc.2371C>T (p.Arg791Ter)
n.330-1012G>A
c.2266C>T (p.Arg756Ter)
c.1132C>T (p.Arg378Ter)
n.2509C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280588G>ACA66598773COL4A3,MFF-DTc.2372G>A (p.Arg791Gln)
n.330-1013C>T
c.2267G>A (p.Arg756Gln)
c.1133G>A (p.Arg378Gln)
n.2510G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280588G>CCA350849334COL4A3,MFF-DTc.2372G>C (p.Arg791Pro)
n.330-1013C>G
c.2267G>C (p.Arg756Pro)
c.1133G>C (p.Arg378Pro)
n.2510G>C
2g.227280588G=CA1332849735COL4A3,MFF-DTc.2372G= (p.Arg791=)
n.330-1013C=
c.2267G= (p.Arg756=)
c.1133G= (p.Arg378=)
n.2510G=
2g.227280588G>TCA350849335COL4A3,MFF-DTc.2372G>T (p.Arg791Leu)
n.330-1013C>A
c.2267G>T (p.Arg756Leu)
c.1133G>T (p.Arg378Leu)
n.2510G>T
2g.227280589A>CCA431502112COL4A3,MFF-DTc.2373A>C (p.Arg791=)
n.330-1014T>G
c.2268A>C (p.Arg756=)
c.1134A>C (p.Arg378=)
n.2511A>C
2g.227280589A>GCA431502115COL4A3,MFF-DTc.2373A>G (p.Arg791=)
n.330-1014T>C
c.2268A>G (p.Arg756=)
c.1134A>G (p.Arg378=)
n.2511A>G
2g.227280589A>TCA431502118COL4A3,MFF-DTc.2373A>T (p.Arg791=)
n.330-1014T>A
c.2268A>T (p.Arg756=)
c.1134A>T (p.Arg378=)
n.2511A>T
2g.227280590G>ACA350849336COL4A3,MFF-DTc.2374G>A (p.Gly792Arg)
n.330-1015C>T
c.2269G>A (p.Gly757Arg)
c.1135G>A (p.Gly379Arg)
n.2512G>A
2g.227280590G>CCA350849337COL4A3,MFF-DTc.2374G>C (p.Gly792Arg)
n.330-1015C>G
c.2269G>C (p.Gly757Arg)
c.1135G>C (p.Gly379Arg)
n.2512G>C
2g.227280590G=CA1332849736COL4A3,MFF-DTc.2374G= (p.Gly792=)
n.330-1015C=
c.2269G= (p.Gly757=)
c.1135G= (p.Gly379=)
n.2512G=
2g.227280590G>TCA350849338COL4A3,MFF-DTc.2374G>T (p.Gly792Ter)
n.330-1015C>A
c.2269G>T (p.Gly757Ter)
c.1135G>T (p.Gly379Ter)
n.2512G>T
 ClinVar dbSNP
2g.227280591G>ACA350849341COL4A3,MFF-DTc.2374+1G>A (n.2374+1G>A)
n.330-1016C>T
c.2269+1G>A (n.2269+1G>A)
c.1135+1G>A (n.1135+1G>A)
n.2512+1G>A
2g.227280591G>CCA350849340COL4A3,MFF-DTc.2374+1G>C (n.2374+1G>C)
n.330-1016C>G
c.2269+1G>C (n.2269+1G>C)
c.1135+1G>C (n.1135+1G>C)
n.2512+1G>C
2g.227280591G>TCA350849339COL4A3,MFF-DTc.2374+1G>T (n.2374+1G>T)
n.330-1016C>A
c.2269+1G>T (n.2269+1G>T)
c.1135+1G>T (n.1135+1G>T)
n.2512+1G>T
 COSMIC COSMIC

Number of alleles fetched