Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227307804_227307810delCA2147514COL4A3,MFF-DTn.1605_1611del
n.808_814del
c.4347_4353del (p.Arg1450ValfsTer?)
c.318_324del (p.Arg107ValfsTer?)
c.33_39del (p.Arg12ValfsTer?)
n.33_39del
n.48-2152_48-2146del
c.4242_4248del (p.Arg1415ValfsTer?)
c.3108_3114del (p.Arg1037ValfsTer?)
n.4485_4491del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307810C>ACA350864307COL4A3,MFF-DTn.1611C>A
n.814C>A
c.4353C>A (p.His1451Gln)
c.324C>A (p.His108Gln)
c.39C>A (p.His13Gln)
n.39C>A
n.48-2155G>T
c.4248C>A (p.His1416Gln)
c.3114C>A (p.His1038Gln)
n.4491C>A
 ClinVar dbSNP
2g.227307810C=CA1332861442COL4A3,MFF-DTn.1611C=
n.814C=
c.4353C= (p.His1451=)
c.324C= (p.His108=)
c.39C= (p.His13=)
n.39C=
n.48-2155G=
c.4248C= (p.His1416=)
c.3114C= (p.His1038=)
n.4491C=
2g.227307810C>GCA66620099COL4A3,MFF-DTn.1611C>G
n.814C>G
c.4353C>G (p.His1451Gln)
c.324C>G (p.His108Gln)
c.39C>G (p.His13Gln)
n.39C>G
n.48-2155G>C
c.4248C>G (p.His1416Gln)
c.3114C>G (p.His1038Gln)
n.4491C>G
 dbSNP
2g.227307810C>TCA431508905COL4A3,MFF-DTn.1611C>T
n.814C>T
c.4353C>T (p.His1451=)
c.324C>T (p.His108=)
c.39C>T (p.His13=)
n.39C>T
n.48-2155G>A
c.4248C>T (p.His1416=)
c.3114C>T (p.His1038=)
n.4491C>T
2g.227307811A>CCA350864308COL4A3,MFF-DTn.1612A>C
n.815A>C
c.4354A>C (p.Ser1452Arg)
c.325A>C (p.Ser109Arg)
c.40A>C (p.Ser14Arg)
n.40A>C
n.48-2156T>G
c.4249A>C (p.Ser1417Arg)
c.3115A>C (p.Ser1039Arg)
n.4492A>C
2g.227307811A>GCA350864309COL4A3,MFF-DTn.1612A>G
n.815A>G
c.4354A>G (p.Ser1452Gly)
c.325A>G (p.Ser109Gly)
c.40A>G (p.Ser14Gly)
n.40A>G
n.48-2156T>C
c.4249A>G (p.Ser1417Gly)
c.3115A>G (p.Ser1039Gly)
n.4492A>G
2g.227307811A>TCA350864310COL4A3,MFF-DTn.1612A>T
n.815A>T
c.4354A>T (p.Ser1452Cys)
c.325A>T (p.Ser109Cys)
c.40A>T (p.Ser14Cys)
n.40A>T
n.48-2156T>A
c.4249A>T (p.Ser1417Cys)
c.3115A>T (p.Ser1039Cys)
n.4492A>T
2g.227307812G>ACA350864311COL4A3,MFF-DTn.1613G>A
n.816G>A
c.4355G>A (p.Ser1452Asn)
c.326G>A (p.Ser109Asn)
c.41G>A (p.Ser14Asn)
n.41G>A
n.48-2157C>T
c.4250G>A (p.Ser1417Asn)
c.3116G>A (p.Ser1039Asn)
n.4493G>A
2g.227307812G>CCA350864312COL4A3,MFF-DTn.1613G>C
n.816G>C
c.4355G>C (p.Ser1452Thr)
c.326G>C (p.Ser109Thr)
c.41G>C (p.Ser14Thr)
n.41G>C
n.48-2157C>G
c.4250G>C (p.Ser1417Thr)
c.3116G>C (p.Ser1039Thr)
n.4493G>C
2g.227307812G>TCA350864313COL4A3,MFF-DTn.1613G>T
n.816G>T
c.4355G>T (p.Ser1452Ile)
c.326G>T (p.Ser109Ile)
c.41G>T (p.Ser14Ile)
n.41G>T
n.48-2157C>A
c.4250G>T (p.Ser1417Ile)
c.3116G>T (p.Ser1039Ile)
n.4493G>T
2g.227307813T>ACA350864314COL4A3,MFF-DTn.1614T>A
n.817T>A
c.4356T>A (p.Ser1452Arg)
c.327T>A (p.Ser109Arg)
c.42T>A (p.Ser14Arg)
n.42T>A
n.48-2158A>T
c.4251T>A (p.Ser1417Arg)
c.3117T>A (p.Ser1039Arg)
n.4494T>A
 gnomAD v4
2g.227307813T>CCA431508906COL4A3,MFF-DTn.1614T>C
n.817T>C
c.4356T>C (p.Ser1452=)
c.327T>C (p.Ser109=)
c.42T>C (p.Ser14=)
n.42T>C
n.48-2158A>G
c.4251T>C (p.Ser1417=)
c.3117T>C (p.Ser1039=)
n.4494T>C
2g.227307813T>GCA350864315COL4A3,MFF-DTn.1614T>G
n.817T>G
c.4356T>G (p.Ser1452Arg)
c.327T>G (p.Ser109Arg)
c.42T>G (p.Ser14Arg)
n.42T>G
n.48-2158A>C
c.4251T>G (p.Ser1417Arg)
c.3117T>G (p.Ser1039Arg)
n.4494T>G
2g.227307814C>ACA350864316COL4A3,MFF-DTn.1615C>A
n.818C>A
c.4357C>A (p.Gln1453Lys)
c.328C>A (p.Gln110Lys)
c.43C>A (p.Gln15Lys)
n.43C>A
n.48-2159G>T
c.4252C>A (p.Gln1418Lys)
c.3118C>A (p.Gln1040Lys)
n.4495C>A
 COSMIC COSMIC
2g.227307814C>GCA350864317COL4A3,MFF-DTn.1615C>G
n.818C>G
c.4357C>G (p.Gln1453Glu)
c.328C>G (p.Gln110Glu)
c.43C>G (p.Gln15Glu)
n.43C>G
n.48-2159G>C
c.4252C>G (p.Gln1418Glu)
c.3118C>G (p.Gln1040Glu)
n.4495C>G
2g.227307814C>TCA350864318COL4A3,MFF-DTn.1615C>T
n.818C>T
c.4357C>T (p.Gln1453Ter)
c.328C>T (p.Gln110Ter)
c.43C>T (p.Gln15Ter)
n.43C>T
n.48-2159G>A
c.4252C>T (p.Gln1418Ter)
c.3118C>T (p.Gln1040Ter)
n.4495C>T
2g.227307815A>CCA350864320COL4A3,MFF-DTn.1616A>C
n.819A>C
c.4358A>C (p.Gln1453Pro)
c.329A>C (p.Gln110Pro)
c.44A>C (p.Gln15Pro)
n.44A>C
n.48-2160T>G
c.4253A>C (p.Gln1418Pro)
c.3119A>C (p.Gln1040Pro)
n.4496A>C
2g.227307815A>GCA350864321COL4A3,MFF-DTn.1616A>G
n.819A>G
c.4358A>G (p.Gln1453Arg)
c.329A>G (p.Gln110Arg)
c.44A>G (p.Gln15Arg)
n.44A>G
n.48-2160T>C
c.4253A>G (p.Gln1418Arg)
c.3119A>G (p.Gln1040Arg)
n.4496A>G
2g.227307815A>TCA350864319COL4A3,MFF-DTn.1616A>T
n.819A>T
c.4358A>T (p.Gln1453Leu)
c.329A>T (p.Gln110Leu)
c.44A>T (p.Gln15Leu)
n.44A>T
n.48-2160T>A
c.4253A>T (p.Gln1418Leu)
c.3119A>T (p.Gln1040Leu)
n.4496A>T
2g.227307816A>CCA350864322COL4A3,MFF-DTn.1617A>C
n.820A>C
c.4359A>C (p.Gln1453His)
c.330A>C (p.Gln110His)
c.45A>C (p.Gln15His)
n.45A>C
n.48-2161T>G
c.4254A>C (p.Gln1418His)
c.3120A>C (p.Gln1040His)
n.4497A>C
 gnomAD v4
2g.227307816A>GCA431508910COL4A3,MFF-DTn.1617A>G
n.820A>G
c.4359A>G (p.Gln1453=)
c.330A>G (p.Gln110=)
c.45A>G (p.Gln15=)
n.45A>G
n.48-2161T>C
c.4254A>G (p.Gln1418=)
c.3120A>G (p.Gln1040=)
n.4497A>G
2g.227307816A>TCA350864323COL4A3,MFF-DTn.1617A>T
n.820A>T
c.4359A>T (p.Gln1453His)
c.330A>T (p.Gln110His)
c.45A>T (p.Gln15His)
n.45A>T
n.48-2161T>A
c.4254A>T (p.Gln1418His)
c.3120A>T (p.Gln1040His)
n.4497A>T
2g.227307817A>CCA350864324COL4A3,MFF-DTn.1618A>C
n.821A>C
c.4360A>C (p.Thr1454Pro)
c.331A>C (p.Thr111Pro)
c.46A>C (p.Thr16Pro)
n.46A>C
n.48-2162T>G
c.4255A>C (p.Thr1419Pro)
c.3121A>C (p.Thr1041Pro)
n.4498A>C
2g.227307817A>GCA350864325COL4A3,MFF-DTn.1618A>G
n.821A>G
c.4360A>G (p.Thr1454Ala)
c.331A>G (p.Thr111Ala)
c.46A>G (p.Thr16Ala)
n.46A>G
n.48-2162T>C
c.4255A>G (p.Thr1419Ala)
c.3121A>G (p.Thr1041Ala)
n.4498A>G
2g.227307817A>TCA350864326COL4A3,MFF-DTn.1618A>T
n.821A>T
c.4360A>T (p.Thr1454Ser)
c.331A>T (p.Thr111Ser)
c.46A>T (p.Thr16Ser)
n.46A>T
n.48-2162T>A
c.4255A>T (p.Thr1419Ser)
c.3121A>T (p.Thr1041Ser)
n.4498A>T
2g.227307818C>ACA350864327COL4A3,MFF-DTn.1619C>A
n.822C>A
c.4361C>A (p.Thr1454Asn)
c.332C>A (p.Thr111Asn)
c.47C>A (p.Thr16Asn)
n.47C>A
n.48-2163G>T
c.4256C>A (p.Thr1419Asn)
c.3122C>A (p.Thr1041Asn)
n.4499C>A
2g.227307818C>GCA350864328COL4A3,MFF-DTn.1619C>G
n.822C>G
c.4361C>G (p.Thr1454Ser)
c.332C>G (p.Thr111Ser)
c.47C>G (p.Thr16Ser)
n.47C>G
n.48-2163G>C
c.4256C>G (p.Thr1419Ser)
c.3122C>G (p.Thr1041Ser)
n.4499C>G
2g.227307818C>TCA350864329COL4A3,MFF-DTn.1619C>T
n.822C>T
c.4361C>T (p.Thr1454Ile)
c.332C>T (p.Thr111Ile)
c.47C>T (p.Thr16Ile)
n.47C>T
n.48-2163G>A
c.4256C>T (p.Thr1419Ile)
c.3122C>T (p.Thr1041Ile)
n.4499C>T
 gnomAD v4
2g.227307819C>ACA2147517COL4A3,MFF-DTn.1620C>A
n.823C>A
c.4362C>A (p.Thr1454=)
c.333C>A (p.Thr111=)
c.48C>A (p.Thr16=)
n.48C>A
n.48-2164G>T
c.4257C>A (p.Thr1419=)
c.3123C>A (p.Thr1041=)
n.4500C>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307819C=CA1332861443COL4A3,MFF-DTn.1620C=
n.823C=
c.4362C= (p.Thr1454=)
c.333C= (p.Thr111=)
c.48C= (p.Thr16=)
n.48C=
n.48-2164G=
c.4257C= (p.Thr1419=)
c.3123C= (p.Thr1041=)
n.4500C=
2g.227307819C>GCA431508913COL4A3,MFF-DTn.1620C>G
n.823C>G
c.4362C>G (p.Thr1454=)
c.333C>G (p.Thr111=)
c.48C>G (p.Thr16=)
n.48C>G
n.48-2164G>C
c.4257C>G (p.Thr1419=)
c.3123C>G (p.Thr1041=)
n.4500C>G
2g.227307819C>TCA431508914COL4A3,MFF-DTn.1620C>T
n.823C>T
c.4362C>T (p.Thr1454=)
c.333C>T (p.Thr111=)
c.48C>T (p.Thr16=)
n.48C>T
n.48-2164G>A
c.4257C>T (p.Thr1419=)
c.3123C>T (p.Thr1041=)
n.4500C>T
2g.227307820A=CA1332861444COL4A3,MFF-DTn.1621A=
n.824A=
c.4363A= (p.Thr1455=)
c.334A= (p.Thr112=)
c.49A= (p.Thr17=)
n.49A=
n.48-2165T=
c.4258A= (p.Thr1420=)
c.3124A= (p.Thr1042=)
n.4501A=
2g.227307820A>CCA350864330COL4A3,MFF-DTn.1621A>C
n.824A>C
c.4363A>C (p.Thr1455Pro)
c.334A>C (p.Thr112Pro)
c.49A>C (p.Thr17Pro)
n.49A>C
n.48-2165T>G
c.4258A>C (p.Thr1420Pro)
c.3124A>C (p.Thr1042Pro)
n.4501A>C
2g.227307820A>GCA350864331COL4A3,MFF-DTn.1621A>G
n.824A>G
c.4363A>G (p.Thr1455Ala)
c.334A>G (p.Thr112Ala)
c.49A>G (p.Thr17Ala)
n.49A>G
n.48-2165T>C
c.4258A>G (p.Thr1420Ala)
c.3124A>G (p.Thr1042Ala)
n.4501A>G
 dbSNP gnomAD v4
2g.227307820A>TCA350864332COL4A3,MFF-DTn.1621A>T
n.824A>T
c.4363A>T (p.Thr1455Ser)
c.334A>T (p.Thr112Ser)
c.49A>T (p.Thr17Ser)
n.49A>T
n.48-2165T>A
c.4258A>T (p.Thr1420Ser)
c.3124A>T (p.Thr1042Ser)
n.4501A>T
2g.227307821delCA2586971517COL4A3,MFF-DTn.1622del
n.825del
c.4364del (p.Thr1455LysfsTer?)
c.335del (p.Thr112LysfsTer?)
c.50del (p.Thr17LysfsTer?)
n.50del
n.48-2166del
c.4259del (p.Thr1420LysfsTer?)
c.3125del (p.Thr1042LysfsTer?)
n.4502del
2g.227307821C>ACA2147518COL4A3,MFF-DTn.1622C>A
n.825C>A
c.4364C>A (p.Thr1455Lys)
c.335C>A (p.Thr112Lys)
c.50C>A (p.Thr17Lys)
n.50C>A
n.48-2166G>T
c.4259C>A (p.Thr1420Lys)
c.3125C>A (p.Thr1042Lys)
n.4502C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307821C=CA1332861445COL4A3,MFF-DTn.1622C=
n.825C=
c.4364C= (p.Thr1455=)
c.335C= (p.Thr112=)
c.50C= (p.Thr17=)
n.50C=
n.48-2166G=
c.4259C= (p.Thr1420=)
c.3125C= (p.Thr1042=)
n.4502C=
2g.227307821C>GCA350864334COL4A3,MFF-DTn.1622C>G
n.825C>G
c.4364C>G (p.Thr1455Arg)
c.335C>G (p.Thr112Arg)
c.50C>G (p.Thr17Arg)
n.50C>G
n.48-2166G>C
c.4259C>G (p.Thr1420Arg)
c.3125C>G (p.Thr1042Arg)
n.4502C>G
2g.227307821C>TCA350864333COL4A3,MFF-DTn.1622C>T
n.825C>T
c.4364C>T (p.Thr1455Ile)
c.335C>T (p.Thr112Ile)
c.50C>T (p.Thr17Ile)
n.50C>T
n.48-2166G>A
c.4259C>T (p.Thr1420Ile)
c.3125C>T (p.Thr1042Ile)
n.4502C>T
2g.227307822A=CA1332861446COL4A3,MFF-DTn.1623A=
n.826A=
c.4365A= (p.Thr1455=)
c.336A= (p.Thr112=)
c.51A= (p.Thr17=)
n.51A=
n.48-2167T=
c.4260A= (p.Thr1420=)
c.3126A= (p.Thr1042=)
n.4503A=
2g.227307822A>CCA431508921COL4A3,MFF-DTn.1623A>C
n.826A>C
c.4365A>C (p.Thr1455=)
c.336A>C (p.Thr112=)
c.51A>C (p.Thr17=)
n.51A>C
n.48-2167T>G
c.4260A>C (p.Thr1420=)
c.3126A>C (p.Thr1042=)
n.4503A>C
2g.227307822A>GCA2147519COL4A3,MFF-DTn.1623A>G
n.826A>G
c.4365A>G (p.Thr1455=)
c.336A>G (p.Thr112=)
c.51A>G (p.Thr17=)
n.51A>G
n.48-2167T>C
c.4260A>G (p.Thr1420=)
c.3126A>G (p.Thr1042=)
n.4503A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307822A>TCA431508922COL4A3,MFF-DTn.1623A>T
n.826A>T
c.4365A>T (p.Thr1455=)
c.336A>T (p.Thr112=)
c.51A>T (p.Thr17=)
n.51A>T
n.48-2167T>A
c.4260A>T (p.Thr1420=)
c.3126A>T (p.Thr1042=)
n.4503A>T
2g.227307823G>ACA350864335COL4A3,MFF-DTn.1624G>A
n.827G>A
c.4366G>A (p.Ala1456Thr)
c.337G>A (p.Ala113Thr)
c.52G>A (p.Ala18Thr)
n.52G>A
n.48-2168C>T
c.4261G>A (p.Ala1421Thr)
c.3127G>A (p.Ala1043Thr)
n.4504G>A
 COSMIC COSMIC
2g.227307823G>CCA350864336COL4A3,MFF-DTn.1624G>C
n.827G>C
c.4366G>C (p.Ala1456Pro)
c.337G>C (p.Ala113Pro)
c.52G>C (p.Ala18Pro)
n.52G>C
n.48-2168C>G
c.4261G>C (p.Ala1421Pro)
c.3127G>C (p.Ala1043Pro)
n.4504G>C
 dbSNP gnomAD v3 gnomAD v4
2g.227307823G=CA1332861447COL4A3,MFF-DTn.1624G=
n.827G=
c.4366G= (p.Ala1456=)
c.337G= (p.Ala113=)
c.52G= (p.Ala18=)
n.52G=
n.48-2168C=
c.4261G= (p.Ala1421=)
c.3127G= (p.Ala1043=)
n.4504G=
2g.227307823G>TCA350864337COL4A3,MFF-DTn.1624G>T
n.827G>T
c.4366G>T (p.Ala1456Ser)
c.337G>T (p.Ala113Ser)
c.52G>T (p.Ala18Ser)
n.52G>T
n.48-2168C>A
c.4261G>T (p.Ala1421Ser)
c.3127G>T (p.Ala1043Ser)
n.4504G>T
2g.227307824C>ACA2147520COL4A3,MFF-DTn.1625C>A
n.828C>A
c.4367C>A (p.Ala1456Glu)
c.338C>A (p.Ala113Glu)
c.53C>A (p.Ala18Glu)
n.53C>A
n.48-2169G>T
c.4262C>A (p.Ala1421Glu)
c.3128C>A (p.Ala1043Glu)
n.4505C>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307824C=CA1332861448COL4A3,MFF-DTn.1625C=
n.828C=
c.4367C= (p.Ala1456=)
c.338C= (p.Ala113=)
c.53C= (p.Ala18=)
n.53C=
n.48-2169G=
c.4262C= (p.Ala1421=)
c.3128C= (p.Ala1043=)
n.4505C=
2g.227307824C>GCA350864338COL4A3,MFF-DTn.1625C>G
n.828C>G
c.4367C>G (p.Ala1456Gly)
c.338C>G (p.Ala113Gly)
c.53C>G (p.Ala18Gly)
n.53C>G
n.48-2169G>C
c.4262C>G (p.Ala1421Gly)
c.3128C>G (p.Ala1043Gly)
n.4505C>G
2g.227307824C>TCA350864339COL4A3,MFF-DTn.1625C>T
n.828C>T
c.4367C>T (p.Ala1456Val)
c.338C>T (p.Ala113Val)
c.53C>T (p.Ala18Val)
n.53C>T
n.48-2169G>A
c.4262C>T (p.Ala1421Val)
c.3128C>T (p.Ala1043Val)
n.4505C>T
2g.227307825A>CCA431508928COL4A3,MFF-DTn.1626A>C
n.829A>C
c.4368A>C (p.Ala1456=)
c.339A>C (p.Ala113=)
c.54A>C (p.Ala18=)
n.54A>C
n.48-2170T>G
c.4263A>C (p.Ala1421=)
c.3129A>C (p.Ala1043=)
n.4506A>C
2g.227307825A>GCA431508929COL4A3,MFF-DTn.1626A>G
n.829A>G
c.4368A>G (p.Ala1456=)
c.339A>G (p.Ala113=)
c.54A>G (p.Ala18=)
n.54A>G
n.48-2170T>C
c.4263A>G (p.Ala1421=)
c.3129A>G (p.Ala1043=)
n.4506A>G
 gnomAD v4
2g.227307825A>TCA431508930COL4A3,MFF-DTn.1626A>T
n.829A>T
c.4368A>T (p.Ala1456=)
c.339A>T (p.Ala113=)
c.54A>T (p.Ala18=)
n.54A>T
n.48-2170T>A
c.4263A>T (p.Ala1421=)
c.3129A>T (p.Ala1043=)
n.4506A>T
2g.227307826A>CCA350864340COL4A3,MFF-DTn.1627A>C
n.830A>C
c.4369A>C (p.Ile1457Leu)
c.340A>C (p.Ile114Leu)
c.55A>C (p.Ile19Leu)
n.55A>C
n.48-2171T>G
c.4264A>C (p.Ile1422Leu)
c.3130A>C (p.Ile1044Leu)
n.4507A>C
2g.227307826A>GCA350864342COL4A3,MFF-DTn.1627A>G
n.830A>G
c.4369A>G (p.Ile1457Val)
c.340A>G (p.Ile114Val)
c.55A>G (p.Ile19Val)
n.55A>G
n.48-2171T>C
c.4264A>G (p.Ile1422Val)
c.3130A>G (p.Ile1044Val)
n.4507A>G
2g.227307826A>TCA350864341COL4A3,MFF-DTn.1627A>T
n.830A>T
c.4369A>T (p.Ile1457Phe)
c.340A>T (p.Ile114Phe)
c.55A>T (p.Ile19Phe)
n.55A>T
n.48-2171T>A
c.4264A>T (p.Ile1422Phe)
c.3130A>T (p.Ile1044Phe)
n.4507A>T
2g.227307827T>ACA350864343COL4A3,MFF-DTn.1628T>A
n.831T>A
c.4370T>A (p.Ile1457Asn)
c.341T>A (p.Ile114Asn)
c.56T>A (p.Ile19Asn)
n.56T>A
n.48-2172A>T
c.4265T>A (p.Ile1422Asn)
c.3131T>A (p.Ile1044Asn)
n.4508T>A
 gnomAD v4
2g.227307827T>CCA350864344COL4A3,MFF-DTn.1628T>C
n.831T>C
c.4370T>C (p.Ile1457Thr)
c.341T>C (p.Ile114Thr)
c.56T>C (p.Ile19Thr)
n.56T>C
n.48-2172A>G
c.4265T>C (p.Ile1422Thr)
c.3131T>C (p.Ile1044Thr)
n.4508T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227307827T>GCA350864345COL4A3,MFF-DTn.1628T>G
n.831T>G
c.4370T>G (p.Ile1457Ser)
c.341T>G (p.Ile114Ser)
c.56T>G (p.Ile19Ser)
n.56T>G
n.48-2172A>C
c.4265T>G (p.Ile1422Ser)
c.3131T>G (p.Ile1044Ser)
n.4508T>G
2g.227307827T=CA1332861449COL4A3,MFF-DTn.1628T=
n.831T=
c.4370T= (p.Ile1457=)
c.341T= (p.Ile114=)
c.56T= (p.Ile19=)
n.56T=
n.48-2172A=
c.4265T= (p.Ile1422=)
c.3131T= (p.Ile1044=)
n.4508T=
2g.227307828T>ACA431508932COL4A3,MFF-DTn.1629T>A
n.832T>A
c.4371T>A (p.Ile1457=)
c.342T>A (p.Ile114=)
c.57T>A (p.Ile19=)
n.57T>A
n.48-2173A>T
c.4266T>A (p.Ile1422=)
c.3132T>A (p.Ile1044=)
n.4509T>A
2g.227307828T>CCA431508931COL4A3,MFF-DTn.1629T>C
n.832T>C
c.4371T>C (p.Ile1457=)
c.342T>C (p.Ile114=)
c.57T>C (p.Ile19=)
n.57T>C
n.48-2173A>G
c.4266T>C (p.Ile1422=)
c.3132T>C (p.Ile1044=)
n.4509T>C
2g.227307828T>GCA350864346COL4A3,MFF-DTn.1629T>G
n.832T>G
c.4371T>G (p.Ile1457Met)
c.342T>G (p.Ile114Met)
c.57T>G (p.Ile19Met)
n.57T>G
n.48-2173A>C
c.4266T>G (p.Ile1422Met)
c.3132T>G (p.Ile1044Met)
n.4509T>G
2g.227307829C>ACA350864348COL4A3,MFF-DTn.1630C>A
n.833C>A
c.4372C>A (p.Pro1458Thr)
c.343C>A (p.Pro115Thr)
c.58C>A (p.Pro20Thr)
n.58C>A
n.48-2174G>T
c.4267C>A (p.Pro1423Thr)
c.3133C>A (p.Pro1045Thr)
n.4510C>A
2g.227307829C=CA1332861450COL4A3,MFF-DTn.1630C=
n.833C=
c.4372C= (p.Pro1458=)
c.343C= (p.Pro115=)
c.58C= (p.Pro20=)
n.58C=
n.48-2174G=
c.4267C= (p.Pro1423=)
c.3133C= (p.Pro1045=)
n.4510C=
2g.227307829C>GCA350864347COL4A3,MFF-DTn.1630C>G
n.833C>G
c.4372C>G (p.Pro1458Ala)
c.343C>G (p.Pro115Ala)
c.58C>G (p.Pro20Ala)
n.58C>G
n.48-2174G>C
c.4267C>G (p.Pro1423Ala)
c.3133C>G (p.Pro1045Ala)
n.4510C>G
2g.227307829C>TCA66620132COL4A3,MFF-DTn.1630C>T
n.833C>T
c.4372C>T (p.Pro1458Ser)
c.343C>T (p.Pro115Ser)
c.58C>T (p.Pro20Ser)
n.58C>T
n.48-2174G>A
c.4267C>T (p.Pro1423Ser)
c.3133C>T (p.Pro1045Ser)
n.4510C>T
 dbSNP gnomAD v3 gnomAD v4
2g.227307830C>ACA350864349COL4A3,MFF-DTn.1631C>A
n.834C>A
c.4373C>A (p.Pro1458His)
c.344C>A (p.Pro115His)
c.59C>A (p.Pro20His)
n.59C>A
n.48-2175G>T
c.4268C>A (p.Pro1423His)
c.3134C>A (p.Pro1045His)
n.4511C>A
2g.227307830C>GCA350864351COL4A3,MFF-DTn.1631C>G
n.834C>G
c.4373C>G (p.Pro1458Arg)
c.344C>G (p.Pro115Arg)
c.59C>G (p.Pro20Arg)
n.59C>G
n.48-2175G>C
c.4268C>G (p.Pro1423Arg)
c.3134C>G (p.Pro1045Arg)
n.4511C>G
2g.227307830C>TCA350864350COL4A3,MFF-DTn.1631C>T
n.834C>T
c.4373C>T (p.Pro1458Leu)
c.344C>T (p.Pro115Leu)
c.59C>T (p.Pro20Leu)
n.59C>T
n.48-2175G>A
c.4268C>T (p.Pro1423Leu)
c.3134C>T (p.Pro1045Leu)
n.4511C>T
2g.227307831T>ACA431508937COL4A3,MFF-DTn.1632T>A
n.835T>A
c.4374T>A (p.Pro1458=)
c.345T>A (p.Pro115=)
c.60T>A (p.Pro20=)
n.60T>A
n.48-2176A>T
c.4269T>A (p.Pro1423=)
c.3135T>A (p.Pro1045=)
n.4512T>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227307831T>CCA431508938COL4A3,MFF-DTn.1632T>C
n.835T>C
c.4374T>C (p.Pro1458=)
c.345T>C (p.Pro115=)
c.60T>C (p.Pro20=)
n.60T>C
n.48-2176A>G
c.4269T>C (p.Pro1423=)
c.3135T>C (p.Pro1045=)
n.4512T>C
2g.227307831T>GCA2147521COL4A3,MFF-DTn.1632T>G
n.835T>G
c.4374T>G (p.Pro1458=)
c.345T>G (p.Pro115=)
c.60T>G (p.Pro20=)
n.60T>G
n.48-2176A>C
c.4269T>G (p.Pro1423=)
c.3135T>G (p.Pro1045=)
n.4512T>G
 ClinVar dbSNP ExAC gnomAD v2
2g.227307831T=CA1332861451COL4A3,MFF-DTn.1632T=
n.835T=
c.4374T= (p.Pro1458=)
c.345T= (p.Pro115=)
c.60T= (p.Pro20=)
n.60T=
n.48-2176A=
c.4269T= (p.Pro1423=)
c.3135T= (p.Pro1045=)
n.4512T=
2g.227307832T>ACA350864353COL4A3,MFF-DTn.1633T>A
n.836T>A
c.4375T>A (p.Ser1459Thr)
c.346T>A (p.Ser116Thr)
c.61T>A (p.Ser21Thr)
n.61T>A
n.48-2177A>T
c.4270T>A (p.Ser1424Thr)
c.3136T>A (p.Ser1046Thr)
n.4513T>A
2g.227307832T>CCA350864352COL4A3,MFF-DTn.1633T>C
n.836T>C
c.4375T>C (p.Ser1459Pro)
c.346T>C (p.Ser116Pro)
c.61T>C (p.Ser21Pro)
n.61T>C
n.48-2177A>G
c.4270T>C (p.Ser1424Pro)
c.3136T>C (p.Ser1046Pro)
n.4513T>C
2g.227307832T>GCA350864354COL4A3,MFF-DTn.1633T>G
n.836T>G
c.4375T>G (p.Ser1459Ala)
c.346T>G (p.Ser116Ala)
c.61T>G (p.Ser21Ala)
n.61T>G
n.48-2177A>C
c.4270T>G (p.Ser1424Ala)
c.3136T>G (p.Ser1046Ala)
n.4513T>G
2g.227307833C>ACA350864355COL4A3,MFF-DTn.1634C>A
n.837C>A
c.4376C>A (p.Ser1459Ter)
c.347C>A (p.Ser116Ter)
c.62C>A (p.Ser21Ter)
n.62C>A
n.48-2178G>T
c.4271C>A (p.Ser1424Ter)
c.3137C>A (p.Ser1046Ter)
n.4514C>A
2g.227307833C=CA1332861452COL4A3,MFF-DTn.1634C=
n.837C=
c.4376C= (p.Ser1459=)
c.347C= (p.Ser116=)
c.62C= (p.Ser21=)
n.62C=
n.48-2178G=
c.4271C= (p.Ser1424=)
c.3137C= (p.Ser1046=)
n.4514C=
2g.227307833C>GCA350864356COL4A3,MFF-DTn.1634C>G
n.837C>G
c.4376C>G (p.Ser1459Ter)
c.347C>G (p.Ser116Ter)
c.62C>G (p.Ser21Ter)
n.62C>G
n.48-2178G>C
c.4271C>G (p.Ser1424Ter)
c.3137C>G (p.Ser1046Ter)
n.4514C>G
2g.227307833C>TCA350864357COL4A3,MFF-DTn.1634C>T
n.837C>T
c.4376C>T (p.Ser1459Leu)
c.347C>T (p.Ser116Leu)
c.62C>T (p.Ser21Leu)
n.62C>T
n.48-2178G>A
c.4271C>T (p.Ser1424Leu)
c.3137C>T (p.Ser1046Leu)
n.4514C>T
 dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.227307834A>CCA431508940COL4A3,MFF-DTn.1635A>C
n.838A>C
c.4377A>C (p.Ser1459=)
c.348A>C (p.Ser116=)
c.63A>C (p.Ser21=)
n.63A>C
n.48-2179T>G
c.4272A>C (p.Ser1424=)
c.3138A>C (p.Ser1046=)
n.4515A>C
2g.227307834A>GCA431508939COL4A3,MFF-DTn.1635A>G
n.838A>G
c.4377A>G (p.Ser1459=)
c.348A>G (p.Ser116=)
c.63A>G (p.Ser21=)
n.63A>G
n.48-2179T>C
c.4272A>G (p.Ser1424=)
c.3138A>G (p.Ser1046=)
n.4515A>G
 ClinVar
2g.227307834A>TCA431508941COL4A3,MFF-DTn.1635A>T
n.838A>T
c.4377A>T (p.Ser1459=)
c.348A>T (p.Ser116=)
c.63A>T (p.Ser21=)
n.63A>T
n.48-2179T>A
c.4272A>T (p.Ser1424=)
c.3138A>T (p.Ser1046=)
n.4515A>T
2g.227307835T>ACA350864358COL4A3,MFF-DTn.1636T>A
n.839T>A
c.4378T>A (p.Cys1460Ser)
c.349T>A (p.Cys117Ser)
c.64T>A (p.Cys22Ser)
n.64T>A
n.48-2180A>T
c.4273T>A (p.Cys1425Ser)
c.3139T>A (p.Cys1047Ser)
n.4516T>A
2g.227307835T>CCA350864359COL4A3,MFF-DTn.1636T>C
n.839T>C
c.4378T>C (p.Cys1460Arg)
c.349T>C (p.Cys117Arg)
c.64T>C (p.Cys22Arg)
n.64T>C
n.48-2180A>G
c.4273T>C (p.Cys1425Arg)
c.3139T>C (p.Cys1047Arg)
n.4516T>C
2g.227307835T>GCA350864360COL4A3,MFF-DTn.1636T>G
n.839T>G
c.4378T>G (p.Cys1460Gly)
c.349T>G (p.Cys117Gly)
c.64T>G (p.Cys22Gly)
n.64T>G
n.48-2180A>C
c.4273T>G (p.Cys1425Gly)
c.3139T>G (p.Cys1047Gly)
n.4516T>G
2g.227307836G>ACA350864361COL4A3,MFF-DTn.1637G>A
n.840G>A
c.4379G>A (p.Cys1460Tyr)
c.350G>A (p.Cys117Tyr)
c.65G>A (p.Cys22Tyr)
n.65G>A
n.48-2181C>T
c.4274G>A (p.Cys1425Tyr)
c.3140G>A (p.Cys1047Tyr)
n.4517G>A
 gnomAD v4
2g.227307836G>CCA350864362COL4A3,MFF-DTn.1637G>C
n.840G>C
c.4379G>C (p.Cys1460Ser)
c.350G>C (p.Cys117Ser)
c.65G>C (p.Cys22Ser)
n.65G>C
n.48-2181C>G
c.4274G>C (p.Cys1425Ser)
c.3140G>C (p.Cys1047Ser)
n.4517G>C
2g.227307836G>TCA350864363COL4A3,MFF-DTn.1637G>T
n.840G>T
c.4379G>T (p.Cys1460Phe)
c.350G>T (p.Cys117Phe)
c.65G>T (p.Cys22Phe)
n.65G>T
n.48-2181C>A
c.4274G>T (p.Cys1425Phe)
c.3140G>T (p.Cys1047Phe)
n.4517G>T
2g.227307837T>ACA350864364COL4A3,MFF-DTn.1638T>A
n.841T>A
c.4380T>A (p.Cys1460Ter)
c.351T>A (p.Cys117Ter)
c.66T>A (p.Cys22Ter)
n.66T>A
n.48-2182A>T
c.4275T>A (p.Cys1425Ter)
c.3141T>A (p.Cys1047Ter)
n.4518T>A
2g.227307837T>CCA2147522COL4A3,MFF-DTn.1638T>C
n.841T>C
c.4380T>C (p.Cys1460=)
c.351T>C (p.Cys117=)
c.66T>C (p.Cys22=)
n.66T>C
n.48-2182A>G
c.4275T>C (p.Cys1425=)
c.3141T>C (p.Cys1047=)
n.4518T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307837T>GCA350864365COL4A3,MFF-DTn.1638T>G
n.841T>G
c.4380T>G (p.Cys1460Trp)
c.351T>G (p.Cys117Trp)
c.66T>G (p.Cys22Trp)
n.66T>G
n.48-2182A>C
c.4275T>G (p.Cys1425Trp)
c.3141T>G (p.Cys1047Trp)
n.4518T>G
2g.227307837T=CA1332861453COL4A3,MFF-DTn.1638T=
n.841T=
c.4380T= (p.Cys1460=)
c.351T= (p.Cys117=)
c.66T= (p.Cys22=)
n.66T=
n.48-2182A=
c.4275T= (p.Cys1425=)
c.3141T= (p.Cys1047=)
n.4518T=
2g.227307838C>ACA2147523COL4A3,MFF-DTn.1639C>A
n.842C>A
c.4381C>A (p.Pro1461Thr)
c.352C>A (p.Pro118Thr)
c.67C>A (p.Pro23Thr)
n.67C>A
n.48-2183G>T
c.4276C>A (p.Pro1426Thr)
c.3142C>A (p.Pro1048Thr)
n.4519C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307838C=CA1332861454COL4A3,MFF-DTn.1639C=
n.842C=
c.4381C= (p.Pro1461=)
c.352C= (p.Pro118=)
c.67C= (p.Pro23=)
n.67C=
n.48-2183G=
c.4276C= (p.Pro1426=)
c.3142C= (p.Pro1048=)
n.4519C=
2g.227307838C>GCA350864366COL4A3,MFF-DTn.1639C>G
n.842C>G
c.4381C>G (p.Pro1461Ala)
c.352C>G (p.Pro118Ala)
c.67C>G (p.Pro23Ala)
n.67C>G
n.48-2183G>C
c.4276C>G (p.Pro1426Ala)
c.3142C>G (p.Pro1048Ala)
n.4519C>G
2g.227307838C>TCA2147524COL4A3,MFF-DTn.1639C>T
n.842C>T
c.4381C>T (p.Pro1461Ser)
c.352C>T (p.Pro118Ser)
c.67C>T (p.Pro23Ser)
n.67C>T
n.48-2183G>A
c.4276C>T (p.Pro1426Ser)
c.3142C>T (p.Pro1048Ser)
n.4519C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307839C>ACA350864367COL4A3,MFF-DTn.1640C>A
n.843C>A
c.4382C>A (p.Pro1461Gln)
c.353C>A (p.Pro118Gln)
c.68C>A (p.Pro23Gln)
n.68C>A
n.48-2184G>T
c.4277C>A (p.Pro1426Gln)
c.3143C>A (p.Pro1048Gln)
n.4520C>A
2g.227307839C=CA1332861455COL4A3,MFF-DTn.1640C=
n.843C=
c.4382C= (p.Pro1461=)
c.353C= (p.Pro118=)
c.68C= (p.Pro23=)
n.68C=
n.48-2184G=
c.4277C= (p.Pro1426=)
c.3143C= (p.Pro1048=)
n.4520C=
2g.227307839C>GCA350864368COL4A3,MFF-DTn.1640C>G
n.843C>G
c.4382C>G (p.Pro1461Arg)
c.353C>G (p.Pro118Arg)
c.68C>G (p.Pro23Arg)
n.68C>G
n.48-2184G>C
c.4277C>G (p.Pro1426Arg)
c.3143C>G (p.Pro1048Arg)
n.4520C>G
2g.227307839C>TCA2147525COL4A3,MFF-DTn.1640C>T
n.843C>T
c.4382C>T (p.Pro1461Leu)
c.353C>T (p.Pro118Leu)
c.68C>T (p.Pro23Leu)
n.68C>T
n.48-2184G>A
c.4277C>T (p.Pro1426Leu)
c.3143C>T (p.Pro1048Leu)
n.4520C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307840A>CCA431508947COL4A3,MFF-DTn.1641A>C
n.844A>C
c.4383A>C (p.Pro1461=)
c.354A>C (p.Pro118=)
c.69A>C (p.Pro23=)
n.69A>C
n.48-2185T>G
c.4278A>C (p.Pro1426=)
c.3144A>C (p.Pro1048=)
n.4521A>C
2g.227307840A>GCA431508948COL4A3,MFF-DTn.1641A>G
n.844A>G
c.4383A>G (p.Pro1461=)
c.354A>G (p.Pro118=)
c.69A>G (p.Pro23=)
n.69A>G
n.48-2185T>C
c.4278A>G (p.Pro1426=)
c.3144A>G (p.Pro1048=)
n.4521A>G
2g.227307840A>TCA431508949COL4A3,MFF-DTn.1641A>T
n.844A>T
c.4383A>T (p.Pro1461=)
c.354A>T (p.Pro118=)
c.69A>T (p.Pro23=)
n.69A>T
n.48-2185T>A
c.4278A>T (p.Pro1426=)
c.3144A>T (p.Pro1048=)
n.4521A>T
2g.227307841G>ACA350864369COL4A3,MFF-DTn.1642G>A
n.845G>A
c.4384G>A (p.Glu1462Lys)
c.355G>A (p.Glu119Lys)
c.70G>A (p.Glu24Lys)
n.70G>A
n.48-2186C>T
c.4279G>A (p.Glu1427Lys)
c.3145G>A (p.Glu1049Lys)
n.4522G>A
2g.227307841G>CCA350864370COL4A3,MFF-DTn.1642G>C
n.845G>C
c.4384G>C (p.Glu1462Gln)
c.355G>C (p.Glu119Gln)
c.70G>C (p.Glu24Gln)
n.70G>C
n.48-2186C>G
c.4279G>C (p.Glu1427Gln)
c.3145G>C (p.Glu1049Gln)
n.4522G>C
2g.227307841G>TCA350864371COL4A3,MFF-DTn.1642G>T
n.845G>T
c.4384G>T (p.Glu1462Ter)
c.355G>T (p.Glu119Ter)
c.70G>T (p.Glu24Ter)
n.70G>T
n.48-2186C>A
c.4279G>T (p.Glu1427Ter)
c.3145G>T (p.Glu1049Ter)
n.4522G>T
2g.227307842A=CA1332861456COL4A3,MFF-DTn.1643A=
n.846A=
c.4385A= (p.Glu1462=)
c.356A= (p.Glu119=)
c.71A= (p.Glu24=)
n.71A=
n.48-2187T=
c.4280A= (p.Glu1427=)
c.3146A= (p.Glu1049=)
n.4523A=
2g.227307842A>CCA350864372COL4A3,MFF-DTn.1643A>C
n.846A>C
c.4385A>C (p.Glu1462Ala)
c.356A>C (p.Glu119Ala)
c.71A>C (p.Glu24Ala)
n.71A>C
n.48-2187T>G
c.4280A>C (p.Glu1427Ala)
c.3146A>C (p.Glu1049Ala)
n.4523A>C
2g.227307842A>GCA350864373COL4A3,MFF-DTn.1643A>G
n.846A>G
c.4385A>G (p.Glu1462Gly)
c.356A>G (p.Glu119Gly)
c.71A>G (p.Glu24Gly)
n.71A>G
n.48-2187T>C
c.4280A>G (p.Glu1427Gly)
c.3146A>G (p.Glu1049Gly)
n.4523A>G
 dbSNP
2g.227307842A>TCA350864374COL4A3,MFF-DTn.1643A>T
n.846A>T
c.4385A>T (p.Glu1462Val)
c.356A>T (p.Glu119Val)
c.71A>T (p.Glu24Val)
n.71A>T
n.48-2187T>A
c.4280A>T (p.Glu1427Val)
c.3146A>T (p.Glu1049Val)
n.4523A>T
2g.227307843G>ACA431508950COL4A3,MFF-DTn.1644G>A
n.847G>A
c.4386G>A (p.Glu1462=)
c.357G>A (p.Glu119=)
c.72G>A (p.Glu24=)
n.72G>A
n.48-2188C>T
c.4281G>A (p.Glu1427=)
c.3147G>A (p.Glu1049=)
n.4524G>A
 ClinVar dbSNP
2g.227307843G>CCA350864375COL4A3,MFF-DTn.1644G>C
n.847G>C
c.4386G>C (p.Glu1462Asp)
c.357G>C (p.Glu119Asp)
c.72G>C (p.Glu24Asp)
n.72G>C
n.48-2188C>G
c.4281G>C (p.Glu1427Asp)
c.3147G>C (p.Glu1049Asp)
n.4524G>C
2g.227307843G=CA1332861457COL4A3,MFF-DTn.1644G=
n.847G=
c.4386G= (p.Glu1462=)
c.357G= (p.Glu119=)
c.72G= (p.Glu24=)
n.72G=
n.48-2188C=
c.4281G= (p.Glu1427=)
c.3147G= (p.Glu1049=)
n.4524G=
2g.227307843G>TCA350864376COL4A3,MFF-DTn.1644G>T
n.847G>T
c.4386G>T (p.Glu1462Asp)
c.357G>T (p.Glu119Asp)
c.72G>T (p.Glu24Asp)
n.72G>T
n.48-2188C>A
c.4281G>T (p.Glu1427Asp)
c.3147G>T (p.Glu1049Asp)
n.4524G>T
2g.227307844G>ACA350864379COL4A3,MFF-DTn.1645G>A
n.848G>A
c.4387G>A (p.Gly1463Arg)
c.358G>A (p.Gly120Arg)
c.73G>A (p.Gly25Arg)
n.73G>A
n.48-2189C>T
c.4282G>A (p.Gly1428Arg)
c.3148G>A (p.Gly1050Arg)
n.4525G>A
 COSMIC COSMIC
2g.227307844G>CCA350864378COL4A3,MFF-DTn.1645G>C
n.848G>C
c.4387G>C (p.Gly1463Arg)
c.358G>C (p.Gly120Arg)
c.73G>C (p.Gly25Arg)
n.73G>C
n.48-2189C>G
c.4282G>C (p.Gly1428Arg)
c.3148G>C (p.Gly1050Arg)
n.4525G>C
2g.227307844G>TCA350864377COL4A3,MFF-DTn.1645G>T
n.848G>T
c.4387G>T (p.Gly1463Trp)
c.358G>T (p.Gly120Trp)
c.73G>T (p.Gly25Trp)
n.73G>T
n.48-2189C>A
c.4282G>T (p.Gly1428Trp)
c.3148G>T (p.Gly1050Trp)
n.4525G>T
2g.227307845G>ACA350864380COL4A3,MFF-DTn.1646G>A
n.849G>A
c.4388G>A (p.Gly1463Glu)
c.359G>A (p.Gly120Glu)
c.74G>A (p.Gly25Glu)
n.74G>A
n.48-2190C>T
c.4283G>A (p.Gly1428Glu)
c.3149G>A (p.Gly1050Glu)
n.4526G>A
2g.227307845G>CCA350864381COL4A3,MFF-DTn.1646G>C
n.849G>C
c.4388G>C (p.Gly1463Ala)
c.359G>C (p.Gly120Ala)
c.74G>C (p.Gly25Ala)
n.74G>C
n.48-2190C>G
c.4283G>C (p.Gly1428Ala)
c.3149G>C (p.Gly1050Ala)
n.4526G>C
2g.227307845G>TCA350864382COL4A3,MFF-DTn.1646G>T
n.849G>T
c.4388G>T (p.Gly1463Val)
c.359G>T (p.Gly120Val)
c.74G>T (p.Gly25Val)
n.74G>T
n.48-2190C>A
c.4283G>T (p.Gly1428Val)
c.3149G>T (p.Gly1050Val)
n.4526G>T
2g.227307846G>ACA2147526COL4A3,MFF-DTn.1647G>A
n.850G>A
c.4389G>A (p.Gly1463=)
c.360G>A (p.Gly120=)
c.75G>A (p.Gly25=)
n.75G>A
n.48-2191C>T
c.4284G>A (p.Gly1428=)
c.3150G>A (p.Gly1050=)
n.4527G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307846G>CCA431508952COL4A3,MFF-DTn.1647G>C
n.850G>C
c.4389G>C (p.Gly1463=)
c.360G>C (p.Gly120=)
c.75G>C (p.Gly25=)
n.75G>C
n.48-2191C>G
c.4284G>C (p.Gly1428=)
c.3150G>C (p.Gly1050=)
n.4527G>C
 ClinVar gnomAD v4
2g.227307846G=CA1332861458COL4A3,MFF-DTn.1647G=
n.850G=
c.4389G= (p.Gly1463=)
c.360G= (p.Gly120=)
c.75G= (p.Gly25=)
n.75G=
n.48-2191C=
c.4284G= (p.Gly1428=)
c.3150G= (p.Gly1050=)
n.4527G=
2g.227307846G>TCA431508953COL4A3,MFF-DTn.1647G>T
n.850G>T
c.4389G>T (p.Gly1463=)
c.360G>T (p.Gly120=)
c.75G>T (p.Gly25=)
n.75G>T
n.48-2191C>A
c.4284G>T (p.Gly1428=)
c.3150G>T (p.Gly1050=)
n.4527G>T
 gnomAD v4
2g.227307847A>CCA350864383COL4A3,MFF-DTn.1648A>C
n.851A>C
c.4390A>C (p.Thr1464Pro)
c.361A>C (p.Thr121Pro)
c.76A>C (p.Thr26Pro)
n.76A>C
n.48-2192T>G
c.4285A>C (p.Thr1429Pro)
c.3151A>C (p.Thr1051Pro)
n.4528A>C
 gnomAD v4
2g.227307847A>GCA350864384COL4A3,MFF-DTn.1648A>G
n.851A>G
c.4390A>G (p.Thr1464Ala)
c.361A>G (p.Thr121Ala)
c.76A>G (p.Thr26Ala)
n.76A>G
n.48-2192T>C
c.4285A>G (p.Thr1429Ala)
c.3151A>G (p.Thr1051Ala)
n.4528A>G
2g.227307847A>TCA350864385COL4A3,MFF-DTn.1648A>T
n.851A>T
c.4390A>T (p.Thr1464Ser)
c.361A>T (p.Thr121Ser)
c.76A>T (p.Thr26Ser)
n.76A>T
n.48-2192T>A
c.4285A>T (p.Thr1429Ser)
c.3151A>T (p.Thr1051Ser)
n.4528A>T
2g.227307848C>ACA350864386COL4A3,MFF-DTn.1649C>A
n.852C>A
c.4391C>A (p.Thr1464Lys)
c.362C>A (p.Thr121Lys)
c.77C>A (p.Thr26Lys)
n.77C>A
n.48-2193G>T
c.4286C>A (p.Thr1429Lys)
c.3152C>A (p.Thr1051Lys)
n.4529C>A
2g.227307848C=CA1332861459COL4A3,MFF-DTn.1649C=
n.852C=
c.4391C= (p.Thr1464=)
c.362C= (p.Thr121=)
c.77C= (p.Thr26=)
n.77C=
n.48-2193G=
c.4286C= (p.Thr1429=)
c.3152C= (p.Thr1051=)
n.4529C=
2g.227307848C>GCA350864387COL4A3,MFF-DTn.1649C>G
n.852C>G
c.4391C>G (p.Thr1464Arg)
c.362C>G (p.Thr121Arg)
c.77C>G (p.Thr26Arg)
n.77C>G
n.48-2193G>C
c.4286C>G (p.Thr1429Arg)
c.3152C>G (p.Thr1051Arg)
n.4529C>G
2g.227307848C>TCA350864388COL4A3,MFF-DTn.1649C>T
n.852C>T
c.4391C>T (p.Thr1464Ile)
c.362C>T (p.Thr121Ile)
c.77C>T (p.Thr26Ile)
n.77C>T
n.48-2193G>A
c.4286C>T (p.Thr1429Ile)
c.3152C>T (p.Thr1051Ile)
n.4529C>T
 dbSNP gnomAD v4
2g.227307849A>CCA431508955COL4A3,MFF-DTn.1650A>C
n.853A>C
c.4392A>C (p.Thr1464=)
c.363A>C (p.Thr121=)
c.78A>C (p.Thr26=)
n.78A>C
n.48-2194T>G
c.4287A>C (p.Thr1429=)
c.3153A>C (p.Thr1051=)
n.4530A>C
2g.227307849A>GCA431508957COL4A3,MFF-DTn.1650A>G
n.853A>G
c.4392A>G (p.Thr1464=)
c.363A>G (p.Thr121=)
c.78A>G (p.Thr26=)
n.78A>G
n.48-2194T>C
c.4287A>G (p.Thr1429=)
c.3153A>G (p.Thr1051=)
n.4530A>G
2g.227307849A>TCA431508958COL4A3,MFF-DTn.1650A>T
n.853A>T
c.4392A>T (p.Thr1464=)
c.363A>T (p.Thr121=)
c.78A>T (p.Thr26=)
n.78A>T
n.48-2194T>A
c.4287A>T (p.Thr1429=)
c.3153A>T (p.Thr1051=)
n.4530A>T
2g.227307850G>ACA350864389COL4A3,MFF-DTn.1651G>A
n.854G>A
c.4393G>A (p.Val1465Met)
c.364G>A (p.Val122Met)
c.79G>A (p.Val27Met)
n.79G>A
n.48-2195C>T
c.4288G>A (p.Val1430Met)
c.3154G>A (p.Val1052Met)
n.4531G>A
 gnomAD v4
2g.227307850G>CCA350864390COL4A3,MFF-DTn.1651G>C
n.854G>C
c.4393G>C (p.Val1465Leu)
c.364G>C (p.Val122Leu)
c.79G>C (p.Val27Leu)
n.79G>C
n.48-2195C>G
c.4288G>C (p.Val1430Leu)
c.3154G>C (p.Val1052Leu)
n.4531G>C
2g.227307850G>TCA350864391COL4A3,MFF-DTn.1651G>T
n.854G>T
c.4393G>T (p.Val1465Leu)
c.364G>T (p.Val122Leu)
c.79G>T (p.Val27Leu)
n.79G>T
n.48-2195C>A
c.4288G>T (p.Val1430Leu)
c.3154G>T (p.Val1052Leu)
n.4531G>T
2g.227307851T>ACA350864393COL4A3,MFF-DTn.1652T>A
n.855T>A
c.4394T>A (p.Val1465Glu)
c.365T>A (p.Val122Glu)
c.80T>A (p.Val27Glu)
n.80T>A
n.48-2196A>T
c.4289T>A (p.Val1430Glu)
c.3155T>A (p.Val1052Glu)
n.4532T>A
2g.227307851T>CCA2147527COL4A3,MFF-DTn.1652T>C
n.855T>C
c.4394T>C (p.Val1465Ala)
c.365T>C (p.Val122Ala)
c.80T>C (p.Val27Ala)
n.80T>C
n.48-2196A>G
c.4289T>C (p.Val1430Ala)
c.3155T>C (p.Val1052Ala)
n.4532T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307851T>GCA350864392COL4A3,MFF-DTn.1652T>G
n.855T>G
c.4394T>G (p.Val1465Gly)
c.365T>G (p.Val122Gly)
c.80T>G (p.Val27Gly)
n.80T>G
n.48-2196A>C
c.4289T>G (p.Val1430Gly)
c.3155T>G (p.Val1052Gly)
n.4532T>G
2g.227307851T=CA1332861460COL4A3,MFF-DTn.1652T=
n.855T=
c.4394T= (p.Val1465=)
c.365T= (p.Val122=)
c.80T= (p.Val27=)
n.80T=
n.48-2196A=
c.4289T= (p.Val1430=)
c.3155T= (p.Val1052=)
n.4532T=
2g.227307852G>ACA2147528COL4A3,MFF-DTn.1653G>A
n.856G>A
c.4395G>A (p.Val1465=)
c.366G>A (p.Val122=)
c.81G>A (p.Val27=)
n.81G>A
n.48-2197C>T
c.4290G>A (p.Val1430=)
c.3156G>A (p.Val1052=)
n.4533G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307852G>CCA431508959COL4A3,MFF-DTn.1653G>C
n.856G>C
c.4395G>C (p.Val1465=)
c.366G>C (p.Val122=)
c.81G>C (p.Val27=)
n.81G>C
n.48-2197C>G
c.4290G>C (p.Val1430=)
c.3156G>C (p.Val1052=)
n.4533G>C
2g.227307852G=CA1332861461COL4A3,MFF-DTn.1653G=
n.856G=
c.4395G= (p.Val1465=)
c.366G= (p.Val122=)
c.81G= (p.Val27=)
n.81G=
n.48-2197C=
c.4290G= (p.Val1430=)
c.3156G= (p.Val1052=)
n.4533G=
2g.227307852G>TCA431508960COL4A3,MFF-DTn.1653G>T
n.856G>T
c.4395G>T (p.Val1465=)
c.366G>T (p.Val122=)
c.81G>T (p.Val27=)
n.81G>T
n.48-2197C>A
c.4290G>T (p.Val1430=)
c.3156G>T (p.Val1052=)
n.4533G>T
 gnomAD v4
2g.227307853C>ACA350864394COL4A3,MFF-DTn.1654C>A
n.857C>A
c.4396C>A (p.Pro1466Thr)
c.367C>A (p.Pro123Thr)
c.82C>A (p.Pro28Thr)
n.82C>A
n.48-2198G>T
c.4291C>A (p.Pro1431Thr)
c.3157C>A (p.Pro1053Thr)
n.4534C>A
 ClinVar
2g.227307853C>GCA350864395COL4A3,MFF-DTn.1654C>G
n.857C>G
c.4396C>G (p.Pro1466Ala)
c.367C>G (p.Pro123Ala)
c.82C>G (p.Pro28Ala)
n.82C>G
n.48-2198G>C
c.4291C>G (p.Pro1431Ala)
c.3157C>G (p.Pro1053Ala)
n.4534C>G
 COSMIC COSMIC
2g.227307853C>TCA350864396COL4A3,MFF-DTn.1654C>T
n.857C>T
c.4396C>T (p.Pro1466Ser)
c.367C>T (p.Pro123Ser)
c.82C>T (p.Pro28Ser)
n.82C>T
n.48-2198G>A
c.4291C>T (p.Pro1431Ser)
c.3157C>T (p.Pro1053Ser)
n.4534C>T
 gnomAD v4
2g.227307854C>ACA350864397COL4A3,MFF-DTn.1655C>A
n.858C>A
c.4397C>A (p.Pro1466Gln)
c.368C>A (p.Pro123Gln)
c.83C>A (p.Pro28Gln)
n.83C>A
n.48-2199G>T
c.4292C>A (p.Pro1431Gln)
c.3158C>A (p.Pro1053Gln)
n.4535C>A
2g.227307854C>GCA350864398COL4A3,MFF-DTn.1655C>G
n.858C>G
c.4397C>G (p.Pro1466Arg)
c.368C>G (p.Pro123Arg)
c.83C>G (p.Pro28Arg)
n.83C>G
n.48-2199G>C
c.4292C>G (p.Pro1431Arg)
c.3158C>G (p.Pro1053Arg)
n.4535C>G
2g.227307854C>TCA350864399COL4A3,MFF-DTn.1655C>T
n.858C>T
c.4397C>T (p.Pro1466Leu)
c.368C>T (p.Pro123Leu)
c.83C>T (p.Pro28Leu)
n.83C>T
n.48-2199G>A
c.4292C>T (p.Pro1431Leu)
c.3158C>T (p.Pro1053Leu)
n.4535C>T
2g.227307855A=CA1332861462COL4A3,MFF-DTn.1656A=
n.859A=
c.4398A= (p.Pro1466=)
c.369A= (p.Pro123=)
c.84A= (p.Pro28=)
n.84A=
n.48-2200T=
c.4293A= (p.Pro1431=)
c.3159A= (p.Pro1053=)
n.4536A=
2g.227307855A>CCA2147529COL4A3,MFF-DTn.1656A>C
n.859A>C
c.4398A>C (p.Pro1466=)
c.369A>C (p.Pro123=)
c.84A>C (p.Pro28=)
n.84A>C
n.48-2200T>G
c.4293A>C (p.Pro1431=)
c.3159A>C (p.Pro1053=)
n.4536A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307855A>GCA431508963COL4A3,MFF-DTn.1656A>G
n.859A>G
c.4398A>G (p.Pro1466=)
c.369A>G (p.Pro123=)
c.84A>G (p.Pro28=)
n.84A>G
n.48-2200T>C
c.4293A>G (p.Pro1431=)
c.3159A>G (p.Pro1053=)
n.4536A>G
2g.227307855A>TCA431508962COL4A3,MFF-DTn.1656A>T
n.859A>T
c.4398A>T (p.Pro1466=)
c.369A>T (p.Pro123=)
c.84A>T (p.Pro28=)
n.84A>T
n.48-2200T>A
c.4293A>T (p.Pro1431=)
c.3159A>T (p.Pro1053=)
n.4536A>T
 ClinVar
2g.227307856C>ACA350864400COL4A3,MFF-DTn.1657C>A
n.860C>A
c.4399C>A (p.Leu1467Ile)
c.370C>A (p.Leu124Ile)
c.85C>A (p.Leu29Ile)
n.85C>A
n.48-2201G>T
c.4294C>A (p.Leu1432Ile)
c.3160C>A (p.Leu1054Ile)
n.4537C>A
2g.227307856C>GCA350864401COL4A3,MFF-DTn.1657C>G
n.860C>G
c.4399C>G (p.Leu1467Val)
c.370C>G (p.Leu124Val)
c.85C>G (p.Leu29Val)
n.85C>G
n.48-2201G>C
c.4294C>G (p.Leu1432Val)
c.3160C>G (p.Leu1054Val)
n.4537C>G
2g.227307856C>TCA350864402COL4A3,MFF-DTn.1657C>T
n.860C>T
c.4399C>T (p.Leu1467Phe)
c.370C>T (p.Leu124Phe)
c.85C>T (p.Leu29Phe)
n.85C>T
n.48-2201G>A
c.4294C>T (p.Leu1432Phe)
c.3160C>T (p.Leu1054Phe)
n.4537C>T
2g.227307857T>ACA350864405COL4A3,MFF-DTn.1658T>A
n.861T>A
c.4400T>A (p.Leu1467His)
c.371T>A (p.Leu124His)
c.86T>A (p.Leu29His)
n.86T>A
n.48-2202A>T
c.4295T>A (p.Leu1432His)
c.3161T>A (p.Leu1054His)
n.4538T>A
2g.227307857T>CCA350864404COL4A3,MFF-DTn.1658T>C
n.861T>C
c.4400T>C (p.Leu1467Pro)
c.371T>C (p.Leu124Pro)
c.86T>C (p.Leu29Pro)
n.86T>C
n.48-2202A>G
c.4295T>C (p.Leu1432Pro)
c.3161T>C (p.Leu1054Pro)
n.4538T>C
2g.227307857T>GCA350864403COL4A3,MFF-DTn.1658T>G
n.861T>G
c.4400T>G (p.Leu1467Arg)
c.371T>G (p.Leu124Arg)
c.86T>G (p.Leu29Arg)
n.86T>G
n.48-2202A>C
c.4295T>G (p.Leu1432Arg)
c.3161T>G (p.Leu1054Arg)
n.4538T>G
2g.227307858C>ACA431508968COL4A3,MFF-DTn.1659C>A
n.862C>A
c.4401C>A (p.Leu1467=)
c.372C>A (p.Leu124=)
c.87C>A (p.Leu29=)
n.87C>A
n.48-2203G>T
c.4296C>A (p.Leu1432=)
c.3162C>A (p.Leu1054=)
n.4539C>A
2g.227307858C=CA1332861463COL4A3,MFF-DTn.1659C=
n.862C=
c.4401C= (p.Leu1467=)
c.372C= (p.Leu124=)
c.87C= (p.Leu29=)
n.87C=
n.48-2203G=
c.4296C= (p.Leu1432=)
c.3162C= (p.Leu1054=)
n.4539C=
2g.227307858C>GCA431508967COL4A3,MFF-DTn.1659C>G
n.862C>G
c.4401C>G (p.Leu1467=)
c.372C>G (p.Leu124=)
c.87C>G (p.Leu29=)
n.87C>G
n.48-2203G>C
c.4296C>G (p.Leu1432=)
c.3162C>G (p.Leu1054=)
n.4539C>G
2g.227307858C>TCA431508965COL4A3,MFF-DTn.1659C>T
n.862C>T
c.4401C>T (p.Leu1467=)
c.372C>T (p.Leu124=)
c.87C>T (p.Leu29=)
n.87C>T
n.48-2203G>A
c.4296C>T (p.Leu1432=)
c.3162C>T (p.Leu1054=)
n.4539C>T
 dbSNP gnomAD v4
2g.227307859T>ACA350864406COL4A3,MFF-DTn.1660T>A
n.863T>A
c.4402T>A (p.Tyr1468Asn)
c.373T>A (p.Tyr125Asn)
c.88T>A (p.Tyr30Asn)
n.88T>A
n.48-2204A>T
c.4297T>A (p.Tyr1433Asn)
c.3163T>A (p.Tyr1055Asn)
n.4540T>A
2g.227307859T>CCA350864408COL4A3,MFF-DTn.1660T>C
n.863T>C
c.4402T>C (p.Tyr1468His)
c.373T>C (p.Tyr125His)
c.88T>C (p.Tyr30His)
n.88T>C
n.48-2204A>G
c.4297T>C (p.Tyr1433His)
c.3163T>C (p.Tyr1055His)
n.4540T>C
2g.227307859T>GCA350864407COL4A3,MFF-DTn.1660T>G
n.863T>G
c.4402T>G (p.Tyr1468Asp)
c.373T>G (p.Tyr125Asp)
c.88T>G (p.Tyr30Asp)
n.88T>G
n.48-2204A>C
c.4297T>G (p.Tyr1433Asp)
c.3163T>G (p.Tyr1055Asp)
n.4540T>G
2g.227307860A>CCA350864409COL4A3,MFF-DTn.1661A>C
n.864A>C
c.4403A>C (p.Tyr1468Ser)
c.374A>C (p.Tyr125Ser)
c.89A>C (p.Tyr30Ser)
n.89A>C
n.48-2205T>G
c.4298A>C (p.Tyr1433Ser)
c.3164A>C (p.Tyr1055Ser)
n.4541A>C
2g.227307860A>GCA350864410COL4A3,MFF-DTn.1661A>G
n.864A>G
c.4403A>G (p.Tyr1468Cys)
c.374A>G (p.Tyr125Cys)
c.89A>G (p.Tyr30Cys)
n.89A>G
n.48-2205T>C
c.4298A>G (p.Tyr1433Cys)
c.3164A>G (p.Tyr1055Cys)
n.4541A>G
2g.227307860A>TCA350864411COL4A3,MFF-DTn.1661A>T
n.864A>T
c.4403A>T (p.Tyr1468Phe)
c.374A>T (p.Tyr125Phe)
c.89A>T (p.Tyr30Phe)
n.89A>T
n.48-2205T>A
c.4298A>T (p.Tyr1433Phe)
c.3164A>T (p.Tyr1055Phe)
n.4541A>T
 ClinVar dbSNP gnomAD v4
2g.227307861C>ACA350864412COL4A3,MFF-DTn.1662C>A
n.865C>A
c.4404C>A (p.Tyr1468Ter)
c.375C>A (p.Tyr125Ter)
c.90C>A (p.Tyr30Ter)
n.90C>A
n.48-2206G>T
c.4299C>A (p.Tyr1433Ter)
c.3165C>A (p.Tyr1055Ter)
n.4542C>A
2g.227307861C>GCA350864413COL4A3,MFF-DTn.1662C>G
n.865C>G
c.4404C>G (p.Tyr1468Ter)
c.375C>G (p.Tyr125Ter)
c.90C>G (p.Tyr30Ter)
n.90C>G
n.48-2206G>C
c.4299C>G (p.Tyr1433Ter)
c.3165C>G (p.Tyr1055Ter)
n.4542C>G
2g.227307861C>TCA431508970COL4A3,MFF-DTn.1662C>T
n.865C>T
c.4404C>T (p.Tyr1468=)
c.375C>T (p.Tyr125=)
c.90C>T (p.Tyr30=)
n.90C>T
n.48-2206G>A
c.4299C>T (p.Tyr1433=)
c.3165C>T (p.Tyr1055=)
n.4542C>T
 gnomAD v4
2g.227307862A>CCA350864414COL4A3,MFF-DTn.1663A>C
n.866A>C
c.4405A>C (p.Ser1469Arg)
c.376A>C (p.Ser126Arg)
c.91A>C (p.Ser31Arg)
n.91A>C
n.48-2207T>G
c.4300A>C (p.Ser1434Arg)
c.3166A>C (p.Ser1056Arg)
n.4543A>C
 gnomAD v4
2g.227307862A>GCA350864415COL4A3,MFF-DTn.1663A>G
n.866A>G
c.4405A>G (p.Ser1469Gly)
c.376A>G (p.Ser126Gly)
c.91A>G (p.Ser31Gly)
n.91A>G
n.48-2207T>C
c.4300A>G (p.Ser1434Gly)
c.3166A>G (p.Ser1056Gly)
n.4543A>G
2g.227307862A>TCA350864416COL4A3,MFF-DTn.1663A>T
n.866A>T
c.4405A>T (p.Ser1469Cys)
c.376A>T (p.Ser126Cys)
c.91A>T (p.Ser31Cys)
n.91A>T
n.48-2207T>A
c.4300A>T (p.Ser1434Cys)
c.3166A>T (p.Ser1056Cys)
n.4543A>T
2g.227307863G>ACA350864417COL4A3,MFF-DTn.1664G>A
n.867G>A
c.4406G>A (p.Ser1469Asn)
c.377G>A (p.Ser126Asn)
c.92G>A (p.Ser31Asn)
n.92G>A
n.48-2208C>T
c.4301G>A (p.Ser1434Asn)
c.3167G>A (p.Ser1056Asn)
n.4544G>A
2g.227307863G>CCA350864418COL4A3,MFF-DTn.1664G>C
n.867G>C
c.4406G>C (p.Ser1469Thr)
c.377G>C (p.Ser126Thr)
c.92G>C (p.Ser31Thr)
n.92G>C
n.48-2208C>G
c.4301G>C (p.Ser1434Thr)
c.3167G>C (p.Ser1056Thr)
n.4544G>C
2g.227307863G>TCA350864419COL4A3,MFF-DTn.1664G>T
n.867G>T
c.4406G>T (p.Ser1469Ile)
c.377G>T (p.Ser126Ile)
c.92G>T (p.Ser31Ile)
n.92G>T
n.48-2208C>A
c.4301G>T (p.Ser1434Ile)
c.3167G>T (p.Ser1056Ile)
n.4544G>T
2g.227307864T>ACA350864421COL4A3,MFF-DTn.1665T>A
n.868T>A
c.4407T>A (p.Ser1469Arg)
c.378T>A (p.Ser126Arg)
c.93T>A (p.Ser31Arg)
n.93T>A
n.48-2209A>T
c.4302T>A (p.Ser1434Arg)
c.3168T>A (p.Ser1056Arg)
n.4545T>A
2g.227307864T>CCA2147530COL4A3,MFF-DTn.1665T>C
n.868T>C
c.4407T>C (p.Ser1469=)
c.378T>C (p.Ser126=)
c.93T>C (p.Ser31=)
n.93T>C
n.48-2209A>G
c.4302T>C (p.Ser1434=)
c.3168T>C (p.Ser1056=)
n.4545T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307864T>GCA350864420COL4A3,MFF-DTn.1665T>G
n.868T>G
c.4407T>G (p.Ser1469Arg)
c.378T>G (p.Ser126Arg)
c.93T>G (p.Ser31Arg)
n.93T>G
n.48-2209A>C
c.4302T>G (p.Ser1434Arg)
c.3168T>G (p.Ser1056Arg)
n.4545T>G
2g.227307864T=CA1332861464COL4A3,MFF-DTn.1665T=
n.868T=
c.4407T= (p.Ser1469=)
c.378T= (p.Ser126=)
c.93T= (p.Ser31=)
n.93T=
n.48-2209A=
c.4302T= (p.Ser1434=)
c.3168T= (p.Ser1056=)
n.4545T=
2g.227307864_227307865delinsTGCA1332861465COL4A3,MFF-DTn.1665_1666delinsTG
n.868_869delinsTG
c.4407_4408delinsTG (p.Ser1469=)
c.378_379delinsTG (p.Ser126=)
c.93_94delinsTG (p.Ser31=)
n.93_94delinsTG
n.48-2210_48-2209delinsCA
c.4302_4303delinsTG (p.Ser1434=)
c.3168_3169delinsTG (p.Ser1056=)
n.4545_4546delinsTG
2g.227307865G>ACA350864422COL4A3,MFF-DTn.1666G>A
n.869G>A
c.4408G>A (p.Gly1470Arg)
c.379G>A (p.Gly127Arg)
c.94G>A (p.Gly32Arg)
n.94G>A
n.48-2210C>T
c.4303G>A (p.Gly1435Arg)
c.3169G>A (p.Gly1057Arg)
n.4546G>A
2g.227307865G>CCA350864423COL4A3,MFF-DTn.1666G>C
n.869G>C
c.4408G>C (p.Gly1470Arg)
c.379G>C (p.Gly127Arg)
c.94G>C (p.Gly32Arg)
n.94G>C
n.48-2210C>G
c.4303G>C (p.Gly1435Arg)
c.3169G>C (p.Gly1057Arg)
n.4546G>C
2g.227307865G>TCA350864424COL4A3,MFF-DTn.1666G>T
n.869G>T
c.4408G>T (p.Gly1470Trp)
c.379G>T (p.Gly127Trp)
c.94G>T (p.Gly32Trp)
n.94G>T
n.48-2210C>A
c.4303G>T (p.Gly1435Trp)
c.3169G>T (p.Gly1057Trp)
n.4546G>T
2g.227307867delCA540306726COL4A3,MFF-DTn.1668del
n.871del
c.4410del (p.Ser1472LeufsTer?)
c.381del (p.Ser129LeufsTer21)
c.96del (p.Ser34LeufsTer?)
n.96del
n.48-2210del
c.4305del (p.Ser1437LeufsTer?)
c.3171del (p.Ser1059LeufsTer?)
n.4548del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227307866G>ACA350864425COL4A3,MFF-DTn.1667G>A
n.870G>A
c.4409G>A (p.Gly1470Glu)
c.380G>A (p.Gly127Glu)
c.95G>A (p.Gly32Glu)
n.95G>A
n.48-2211C>T
c.4304G>A (p.Gly1435Glu)
c.3170G>A (p.Gly1057Glu)
n.4547G>A
2g.227307866G>CCA350864426COL4A3,MFF-DTn.1667G>C
n.870G>C
c.4409G>C (p.Gly1470Ala)
c.380G>C (p.Gly127Ala)
c.95G>C (p.Gly32Ala)
n.95G>C
n.48-2211C>G
c.4304G>C (p.Gly1435Ala)
c.3170G>C (p.Gly1057Ala)
n.4547G>C
2g.227307866G>TCA350864427COL4A3,MFF-DTn.1667G>T
n.870G>T
c.4409G>T (p.Gly1470Val)
c.380G>T (p.Gly127Val)
c.95G>T (p.Gly32Val)
n.95G>T
n.48-2211C>A
c.4304G>T (p.Gly1435Val)
c.3170G>T (p.Gly1057Val)
n.4547G>T
2g.227307867G>ACA66620228COL4A3,MFF-DTn.1668G>A
n.871G>A
c.4410G>A (p.Gly1470=)
c.381G>A (p.Gly127=)
c.96G>A (p.Gly32=)
n.96G>A
n.48-2212C>T
c.4305G>A (p.Gly1435=)
c.3171G>A (p.Gly1057=)
n.4548G>A
 ClinVar dbSNP gnomAD v4
2g.227307867G>CCA431508971COL4A3,MFF-DTn.1668G>C
n.871G>C
c.4410G>C (p.Gly1470=)
c.381G>C (p.Gly127=)
c.96G>C (p.Gly32=)
n.96G>C
n.48-2212C>G
c.4305G>C (p.Gly1435=)
c.3171G>C (p.Gly1057=)
n.4548G>C
2g.227307867G=CA1332861466COL4A3,MFF-DTn.1668G=
n.871G=
c.4410G= (p.Gly1470=)
c.381G= (p.Gly127=)
c.96G= (p.Gly32=)
n.96G=
n.48-2212C=
c.4305G= (p.Gly1435=)
c.3171G= (p.Gly1057=)
n.4548G=
2g.227307867G>TCA431508972COL4A3,MFF-DTn.1668G>T
n.871G>T
c.4410G>T (p.Gly1470=)
c.381G>T (p.Gly127=)
c.96G>T (p.Gly32=)
n.96G>T
n.48-2212C>A
c.4305G>T (p.Gly1435=)
c.3171G>T (p.Gly1057=)
n.4548G>T
 gnomAD v4
2g.227307867_227307872delCA913089959COL4A3,MFF-DTn.1668_1673del
n.871_876del
c.4410_4415del (p.Phe1471_Ser1472del)
c.381_386del (p.Phe128_Ser129del)
c.96_101del (p.Phe33_Ser34del)
n.96_101del
n.48-2217_48-2212del
c.4305_4310del (p.Phe1436_Ser1437del)
c.3171_3176del (p.Phe1058_Ser1059del)
n.4548_4553del
2g.227307867_227307872delinsGTTTTCCA1332861467COL4A3,MFF-DTn.1668_1673delinsGTTTTC
n.871_876delinsGTTTTC
c.4410_4415delinsGTTTTC (p.Gly1470=)
c.381_386delinsGTTTTC (p.Gly127=)
c.96_101delinsGTTTTC (p.Gly32=)
n.96_101delinsGTTTTC
n.48-2217_48-2212delinsGAAAAC
c.4305_4310delinsGTTTTC (p.Gly1435=)
c.3171_3176delinsGTTTTC (p.Gly1057=)
n.4548_4553delinsGTTTTC
2g.227307868T>ACA350864428COL4A3,MFF-DTn.1669T>A
n.872T>A
c.4411T>A (p.Phe1471Ile)
c.382T>A (p.Phe128Ile)
c.97T>A (p.Phe33Ile)
n.97T>A
n.48-2213A>T
c.4306T>A (p.Phe1436Ile)
c.3172T>A (p.Phe1058Ile)
n.4549T>A
2g.227307868T>CCA350864429COL4A3,MFF-DTn.1669T>C
n.872T>C
c.4411T>C (p.Phe1471Leu)
c.382T>C (p.Phe128Leu)
c.97T>C (p.Phe33Leu)
n.97T>C
n.48-2213A>G
c.4306T>C (p.Phe1436Leu)
c.3172T>C (p.Phe1058Leu)
n.4549T>C
2g.227307868T>GCA350864430COL4A3,MFF-DTn.1669T>G
n.872T>G
c.4411T>G (p.Phe1471Val)
c.382T>G (p.Phe128Val)
c.97T>G (p.Phe33Val)
n.97T>G
n.48-2213A>C
c.4306T>G (p.Phe1436Val)
c.3172T>G (p.Phe1058Val)
n.4549T>G
2g.227307870_227307871delCA2586971519COL4A3,MFF-DTn.1671_1672del
n.874_875del
c.4413_4414del (p.Ser1472PhefsTer?)
c.384_385del (p.Ser129PhefsTer16)
c.99_100del (p.Ser34PhefsTer?)
n.99_100del
n.48-2214_48-2213del
c.4308_4309del (p.Ser1437PhefsTer?)
c.3174_3175del (p.Ser1059PhefsTer?)
n.4551_4552del
2g.227307877_227307881delCA658821651COL4A3,MFF-DTn.1678_1682del
n.881_885del
c.4420_4424del (p.Leu1474CysfsTer?)
c.391_395del (p.Leu131CysfsTer13)
c.106_110del (p.Leu36CysfsTer?)
n.106_110del
n.48-2217_48-2213del
c.4315_4319del (p.Leu1439CysfsTer?)
c.3181_3185del (p.Leu1061CysfsTer?)
n.4558_4562del
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227307869T>ACA350864431COL4A3,MFF-DTn.1670T>A
n.873T>A
c.4412T>A (p.Phe1471Tyr)
c.383T>A (p.Phe128Tyr)
c.98T>A (p.Phe33Tyr)
n.98T>A
n.48-2214A>T
c.4307T>A (p.Phe1436Tyr)
c.3173T>A (p.Phe1058Tyr)
n.4550T>A
2g.227307869T>CCA2147531COL4A3,MFF-DTn.1670T>C
n.873T>C
c.4412T>C (p.Phe1471Ser)
c.383T>C (p.Phe128Ser)
c.98T>C (p.Phe33Ser)
n.98T>C
n.48-2214A>G
c.4307T>C (p.Phe1436Ser)
c.3173T>C (p.Phe1058Ser)
n.4550T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307869T>GCA350864432COL4A3,MFF-DTn.1670T>G
n.873T>G
c.4412T>G (p.Phe1471Cys)
c.383T>G (p.Phe128Cys)
c.98T>G (p.Phe33Cys)
n.98T>G
n.48-2214A>C
c.4307T>G (p.Phe1436Cys)
c.3173T>G (p.Phe1058Cys)
n.4550T>G
2g.227307869T=CA1332861468COL4A3,MFF-DTn.1670T=
n.873T=
c.4412T= (p.Phe1471=)
c.383T= (p.Phe128=)
c.98T= (p.Phe33=)
n.98T=
n.48-2214A=
c.4307T= (p.Phe1436=)
c.3173T= (p.Phe1058=)
n.4550T=
2g.227307870T>ACA350864434COL4A3,MFF-DTn.1671T>A
n.874T>A
c.4413T>A (p.Phe1471Leu)
c.384T>A (p.Phe128Leu)
c.99T>A (p.Phe33Leu)
n.99T>A
n.48-2215A>T
c.4308T>A (p.Phe1436Leu)
c.3174T>A (p.Phe1058Leu)
n.4551T>A
2g.227307870T>CCA431508976COL4A3,MFF-DTn.1671T>C
n.874T>C
c.4413T>C (p.Phe1471=)
c.384T>C (p.Phe128=)
c.99T>C (p.Phe33=)
n.99T>C
n.48-2215A>G
c.4308T>C (p.Phe1436=)
c.3174T>C (p.Phe1058=)
n.4551T>C
2g.227307870T>GCA350864433COL4A3,MFF-DTn.1671T>G
n.874T>G
c.4413T>G (p.Phe1471Leu)
c.384T>G (p.Phe128Leu)
c.99T>G (p.Phe33Leu)
n.99T>G
n.48-2215A>C
c.4308T>G (p.Phe1436Leu)
c.3174T>G (p.Phe1058Leu)
n.4551T>G
 dbSNP gnomAD v2 gnomAD v4
2g.227307870T=CA1332861469COL4A3,MFF-DTn.1671T=
n.874T=
c.4413T= (p.Phe1471=)
c.384T= (p.Phe128=)
c.99T= (p.Phe33=)
n.99T=
n.48-2215A=
c.4308T= (p.Phe1436=)
c.3174T= (p.Phe1058=)
n.4551T=
2g.227307871T>ACA350864435COL4A3,MFF-DTn.1672T>A
n.875T>A
c.4414T>A (p.Ser1472Thr)
c.385T>A (p.Ser129Thr)
c.100T>A (p.Ser34Thr)
n.100T>A
n.48-2216A>T
c.4309T>A (p.Ser1437Thr)
c.3175T>A (p.Ser1059Thr)
n.4552T>A
2g.227307871T>CCA350864436COL4A3,MFF-DTn.1672T>C
n.875T>C
c.4414T>C (p.Ser1472Pro)
c.385T>C (p.Ser129Pro)
c.100T>C (p.Ser34Pro)
n.100T>C
n.48-2216A>G
c.4309T>C (p.Ser1437Pro)
c.3175T>C (p.Ser1059Pro)
n.4552T>C
 ClinVar
2g.227307871T>GCA350864437COL4A3,MFF-DTn.1672T>G
n.875T>G
c.4414T>G (p.Ser1472Ala)
c.385T>G (p.Ser129Ala)
c.100T>G (p.Ser34Ala)
n.100T>G
n.48-2216A>C
c.4309T>G (p.Ser1437Ala)
c.3175T>G (p.Ser1059Ala)
n.4552T>G
 gnomAD v4
2g.227307872C>ACA350864438COL4A3,MFF-DTn.1673C>A
n.876C>A
c.4415C>A (p.Ser1472Tyr)
c.386C>A (p.Ser129Tyr)
c.101C>A (p.Ser34Tyr)
n.101C>A
n.48-2217G>T
c.4310C>A (p.Ser1437Tyr)
c.3176C>A (p.Ser1059Tyr)
n.4553C>A
2g.227307872C=CA1332861470COL4A3,MFF-DTn.1673C=
n.876C=
c.4415C= (p.Ser1472=)
c.386C= (p.Ser129=)
c.101C= (p.Ser34=)
n.101C=
n.48-2217G=
c.4310C= (p.Ser1437=)
c.3176C= (p.Ser1059=)
n.4553C=
2g.227307872C>GCA350864439COL4A3,MFF-DTn.1673C>G
n.876C>G
c.4415C>G (p.Ser1472Cys)
c.386C>G (p.Ser129Cys)
c.101C>G (p.Ser34Cys)
n.101C>G
n.48-2217G>C
c.4310C>G (p.Ser1437Cys)
c.3176C>G (p.Ser1059Cys)
n.4553C>G
 gnomAD v4 COSMIC COSMIC
2g.227307872C>TCA2147532COL4A3,MFF-DTn.1673C>T
n.876C>T
c.4415C>T (p.Ser1472Phe)
c.386C>T (p.Ser129Phe)
c.101C>T (p.Ser34Phe)
n.101C>T
n.48-2217G>A
c.4310C>T (p.Ser1437Phe)
c.3176C>T (p.Ser1059Phe)
n.4553C>T
 dbSNP ExAC gnomAD v2
2g.227307872_227307873delinsCTCA1332861471COL4A3,MFF-DTn.1673_1674delinsCT
n.876_877delinsCT
c.4415_4416delinsCT (p.Ser1472=)
c.386_387delinsCT (p.Ser129=)
c.101_102delinsCT (p.Ser34=)
n.101_102delinsCT
n.48-2218_48-2217delinsAG
c.4310_4311delinsCT (p.Ser1437=)
c.3176_3177delinsCT (p.Ser1059=)
n.4553_4554delinsCT
2g.227307873T>ACA431508977COL4A3,MFF-DTn.1674T>A
n.877T>A
c.4416T>A (p.Ser1472=)
c.387T>A (p.Ser129=)
c.102T>A (p.Ser34=)
n.102T>A
n.48-2218A>T
c.4311T>A (p.Ser1437=)
c.3177T>A (p.Ser1059=)
n.4554T>A
2g.227307873T>CCA431508978COL4A3,MFF-DTn.1674T>C
n.877T>C
c.4416T>C (p.Ser1472=)
c.387T>C (p.Ser129=)
c.102T>C (p.Ser34=)
n.102T>C
n.48-2218A>G
c.4311T>C (p.Ser1437=)
c.3177T>C (p.Ser1059=)
n.4554T>C
2g.227307873T>GCA431508980COL4A3,MFF-DTn.1674T>G
n.877T>G
c.4416T>G (p.Ser1472=)
c.387T>G (p.Ser129=)
c.102T>G (p.Ser34=)
n.102T>G
n.48-2218A>C
c.4311T>G (p.Ser1437=)
c.3177T>G (p.Ser1059=)
n.4554T>G
2g.227307876delCA916790645COL4A3,MFF-DTn.1677del
n.880del
c.4419del (p.Leu1474PhefsTer?)
c.390del (p.Leu131PhefsTer19)
c.105del (p.Leu36PhefsTer?)
n.105del
n.48-2218del
c.4314del (p.Leu1439PhefsTer?)
c.3180del (p.Leu1061PhefsTer?)
n.4557del
 dbSNP
2g.227307874T>ACA350864442COL4A3,MFF-DTn.1675T>A
n.878T>A
c.4417T>A (p.Phe1473Ile)
c.388T>A (p.Phe130Ile)
c.103T>A (p.Phe35Ile)
n.103T>A
n.48-2219A>T
c.4312T>A (p.Phe1438Ile)
c.3178T>A (p.Phe1060Ile)
n.4555T>A
2g.227307874T>CCA350864440COL4A3,MFF-DTn.1675T>C
n.878T>C
c.4417T>C (p.Phe1473Leu)
c.388T>C (p.Phe130Leu)
c.103T>C (p.Phe35Leu)
n.103T>C
n.48-2219A>G
c.4312T>C (p.Phe1438Leu)
c.3178T>C (p.Phe1060Leu)
n.4555T>C
2g.227307874T>GCA350864441COL4A3,MFF-DTn.1675T>G
n.878T>G
c.4417T>G (p.Phe1473Val)
c.388T>G (p.Phe130Val)
c.103T>G (p.Phe35Val)
n.103T>G
n.48-2219A>C
c.4312T>G (p.Phe1438Val)
c.3178T>G (p.Phe1060Val)
n.4555T>G
2g.227307875T>ACA350864443COL4A3,MFF-DTn.1676T>A
n.879T>A
c.4418T>A (p.Phe1473Tyr)
c.389T>A (p.Phe130Tyr)
c.104T>A (p.Phe35Tyr)
n.104T>A
n.48-2220A>T
c.4313T>A (p.Phe1438Tyr)
c.3179T>A (p.Phe1060Tyr)
n.4556T>A
2g.227307875T>CCA350864444COL4A3,MFF-DTn.1676T>C
n.879T>C
c.4418T>C (p.Phe1473Ser)
c.389T>C (p.Phe130Ser)
c.104T>C (p.Phe35Ser)
n.104T>C
n.48-2220A>G
c.4313T>C (p.Phe1438Ser)
c.3179T>C (p.Phe1060Ser)
n.4556T>C
2g.227307875T>GCA350864445COL4A3,MFF-DTn.1676T>G
n.879T>G
c.4418T>G (p.Phe1473Cys)
c.389T>G (p.Phe130Cys)
c.104T>G (p.Phe35Cys)
n.104T>G
n.48-2220A>C
c.4313T>G (p.Phe1438Cys)
c.3179T>G (p.Phe1060Cys)
n.4556T>G
2g.227307876T>ACA350864446COL4A3,MFF-DTn.1677T>A
n.880T>A
c.4419T>A (p.Phe1473Leu)
c.390T>A (p.Phe130Leu)
c.105T>A (p.Phe35Leu)
n.105T>A
n.48-2221A>T
c.4314T>A (p.Phe1438Leu)
c.3180T>A (p.Phe1060Leu)
n.4557T>A
2g.227307876T>CCA431508981COL4A3,MFF-DTn.1677T>C
n.880T>C
c.4419T>C (p.Phe1473=)
c.390T>C (p.Phe130=)
c.105T>C (p.Phe35=)
n.105T>C
n.48-2221A>G
c.4314T>C (p.Phe1438=)
c.3180T>C (p.Phe1060=)
n.4557T>C
2g.227307876T>GCA350864447COL4A3,MFF-DTn.1677T>G
n.880T>G
c.4419T>G (p.Phe1473Leu)
c.390T>G (p.Phe130Leu)
c.105T>G (p.Phe35Leu)
n.105T>G
n.48-2221A>C
c.4314T>G (p.Phe1438Leu)
c.3180T>G (p.Phe1060Leu)
n.4557T>G
2g.227307877C>ACA350864448COL4A3,MFF-DTn.1678C>A
n.881C>A
c.4420C>A (p.Leu1474Ile)
c.391C>A (p.Leu131Ile)
c.106C>A (p.Leu36Ile)
n.106C>A
n.48-2222G>T
c.4315C>A (p.Leu1439Ile)
c.3181C>A (p.Leu1061Ile)
n.4558C>A
2g.227307877C=CA1332861472COL4A3,MFF-DTn.1678C=
n.881C=
c.4420C= (p.Leu1474=)
c.391C= (p.Leu131=)
c.106C= (p.Leu36=)
n.106C=
n.48-2222G=
c.4315C= (p.Leu1439=)
c.3181C= (p.Leu1061=)
n.4558C=
2g.227307877C>GCA350864449COL4A3,MFF-DTn.1678C>G
n.881C>G
c.4420C>G (p.Leu1474Val)
c.391C>G (p.Leu131Val)
c.106C>G (p.Leu36Val)
n.106C>G
n.48-2222G>C
c.4315C>G (p.Leu1439Val)
c.3181C>G (p.Leu1061Val)
n.4558C>G
 gnomAD v4 COSMIC COSMIC
2g.227307877C>TCA2147533COL4A3,MFF-DTn.1678C>T
n.881C>T
c.4420C>T (p.Leu1474Phe)
c.391C>T (p.Leu131Phe)
c.106C>T (p.Leu36Phe)
n.106C>T
n.48-2222G>A
c.4315C>T (p.Leu1439Phe)
c.3181C>T (p.Leu1061Phe)
n.4558C>T
 dbSNP ExAC gnomAD v4
2g.227307878T>ACA350864450COL4A3,MFF-DTn.1679T>A
n.882T>A
c.4421T>A (p.Leu1474His)
c.392T>A (p.Leu131His)
c.107T>A (p.Leu36His)
n.107T>A
n.48-2223A>T
c.4316T>A (p.Leu1439His)
c.3182T>A (p.Leu1061His)
n.4559T>A
2g.227307878T>CCA2147534COL4A3,MFF-DTn.1679T>C
n.882T>C
c.4421T>C (p.Leu1474Pro)
c.392T>C (p.Leu131Pro)
c.107T>C (p.Leu36Pro)
n.107T>C
n.48-2223A>G
c.4316T>C (p.Leu1439Pro)
c.3182T>C (p.Leu1061Pro)
n.4559T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307878T>GCA350864451COL4A3,MFF-DTn.1679T>G
n.882T>G
c.4421T>G (p.Leu1474Arg)
c.392T>G (p.Leu131Arg)
c.107T>G (p.Leu36Arg)
n.107T>G
n.48-2223A>C
c.4316T>G (p.Leu1439Arg)
c.3182T>G (p.Leu1061Arg)
n.4559T>G
2g.227307878T=CA1332861473COL4A3,MFF-DTn.1679T=
n.882T=
c.4421T= (p.Leu1474=)
c.392T= (p.Leu131=)
c.107T= (p.Leu36=)
n.107T=
n.48-2223A=
c.4316T= (p.Leu1439=)
c.3182T= (p.Leu1061=)
n.4559T=
2g.227307882dupCA2573135482COL4A3,MFF-DTn.1683dup
n.886dup
c.4425dup (p.Val1476CysfsTer?)
c.396dup (p.Val133CysfsTer13)
c.111dup (p.Val38CysfsTer?)
n.111dup
n.48-2223dup
c.4320dup (p.Val1441CysfsTer?)
c.3186dup (p.Val1063CysfsTer?)
n.4563dup
 ClinVar dbSNP
2g.227307879T>ACA431508984COL4A3,MFF-DTn.1680T>A
n.883T>A
c.4422T>A (p.Leu1474=)
c.393T>A (p.Leu131=)
c.108T>A (p.Leu36=)
n.108T>A
n.48-2224A>T
c.4317T>A (p.Leu1439=)
c.3183T>A (p.Leu1061=)
n.4560T>A
2g.227307879T>CCA431508985COL4A3,MFF-DTn.1680T>C
n.883T>C
c.4422T>C (p.Leu1474=)
c.393T>C (p.Leu131=)
c.108T>C (p.Leu36=)
n.108T>C
n.48-2224A>G
c.4317T>C (p.Leu1439=)
c.3183T>C (p.Leu1061=)
n.4560T>C
 gnomAD v4
2g.227307879T>GCA431508986COL4A3,MFF-DTn.1680T>G
n.883T>G
c.4422T>G (p.Leu1474=)
c.393T>G (p.Leu131=)
c.108T>G (p.Leu36=)
n.108T>G
n.48-2224A>C
c.4317T>G (p.Leu1439=)
c.3183T>G (p.Leu1061=)
n.4560T>G
2g.227307880T>ACA350864452COL4A3,MFF-DTn.1681T>A
n.884T>A
c.4423T>A (p.Phe1475Ile)
c.394T>A (p.Phe132Ile)
c.109T>A (p.Phe37Ile)
n.109T>A
n.48-2225A>T
c.4318T>A (p.Phe1440Ile)
c.3184T>A (p.Phe1062Ile)
n.4561T>A
2g.227307880T>CCA350864453COL4A3,MFF-DTn.1681T>C
n.884T>C
c.4423T>C (p.Phe1475Leu)
c.394T>C (p.Phe132Leu)
c.109T>C (p.Phe37Leu)
n.109T>C
n.48-2225A>G
c.4318T>C (p.Phe1440Leu)
c.3184T>C (p.Phe1062Leu)
n.4561T>C
2g.227307880T>GCA350864454COL4A3,MFF-DTn.1681T>G
n.884T>G
c.4423T>G (p.Phe1475Val)
c.394T>G (p.Phe132Val)
c.109T>G (p.Phe37Val)
n.109T>G
n.48-2225A>C
c.4318T>G (p.Phe1440Val)
c.3184T>G (p.Phe1062Val)
n.4561T>G
2g.227307881T>ACA350864455COL4A3,MFF-DTn.1682T>A
n.885T>A
c.4424T>A (p.Phe1475Tyr)
c.395T>A (p.Phe132Tyr)
c.110T>A (p.Phe37Tyr)
n.110T>A
n.48-2226A>T
c.4319T>A (p.Phe1440Tyr)
c.3185T>A (p.Phe1062Tyr)
n.4562T>A
2g.227307881T>CCA2147535COL4A3,MFF-DTn.1682T>C
n.885T>C
c.4424T>C (p.Phe1475Ser)
c.395T>C (p.Phe132Ser)
c.110T>C (p.Phe37Ser)
n.110T>C
n.48-2226A>G
c.4319T>C (p.Phe1440Ser)
c.3185T>C (p.Phe1062Ser)
n.4562T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307881T>GCA350864456COL4A3,MFF-DTn.1682T>G
n.885T>G
c.4424T>G (p.Phe1475Cys)
c.395T>G (p.Phe132Cys)
c.110T>G (p.Phe37Cys)
n.110T>G
n.48-2226A>C
c.4319T>G (p.Phe1440Cys)
c.3185T>G (p.Phe1062Cys)
n.4562T>G
2g.227307881T=CA1332861474COL4A3,MFF-DTn.1682T=
n.885T=
c.4424T= (p.Phe1475=)
c.395T= (p.Phe132=)
c.110T= (p.Phe37=)
n.110T=
n.48-2226A=
c.4319T= (p.Phe1440=)
c.3185T= (p.Phe1062=)
n.4562T=
2g.227307882T>ACA350864457COL4A3,MFF-DTn.1683T>A
n.886T>A
c.4425T>A (p.Phe1475Leu)
c.396T>A (p.Phe132Leu)
c.111T>A (p.Phe37Leu)
n.111T>A
n.48-2227A>T
c.4320T>A (p.Phe1440Leu)
c.3186T>A (p.Phe1062Leu)
n.4563T>A
2g.227307882T>CCA66620250COL4A3,MFF-DTn.1683T>C
n.886T>C
c.4425T>C (p.Phe1475=)
c.396T>C (p.Phe132=)
c.111T>C (p.Phe37=)
n.111T>C
n.48-2227A>G
c.4320T>C (p.Phe1440=)
c.3186T>C (p.Phe1062=)
n.4563T>C
 dbSNP
2g.227307882T>GCA350864458COL4A3,MFF-DTn.1683T>G
n.886T>G
c.4425T>G (p.Phe1475Leu)
c.396T>G (p.Phe132Leu)
c.111T>G (p.Phe37Leu)
n.111T>G
n.48-2227A>C
c.4320T>G (p.Phe1440Leu)
c.3186T>G (p.Phe1062Leu)
n.4563T>G
2g.227307882T=CA1332861475COL4A3,MFF-DTn.1683T=
n.886T=
c.4425T= (p.Phe1475=)
c.396T= (p.Phe132=)
c.111T= (p.Phe37=)
n.111T=
n.48-2227A=
c.4320T= (p.Phe1440=)
c.3186T= (p.Phe1062=)
n.4563T=
2g.227307883G>ACA350864461COL4A3,MFF-DTn.1684G>A
n.887G>A
c.4426G>A (p.Val1476Ile)
c.397G>A (p.Val133Ile)
c.112G>A (p.Val38Ile)
n.112G>A
n.48-2228C>T
c.4321G>A (p.Val1441Ile)
c.3187G>A (p.Val1063Ile)
n.4564G>A
 ClinVar dbSNP gnomAD v4
2g.227307883G>CCA350864460COL4A3,MFF-DTn.1684G>C
n.887G>C
c.4426G>C (p.Val1476Leu)
c.397G>C (p.Val133Leu)
c.112G>C (p.Val38Leu)
n.112G>C
n.48-2228C>G
c.4321G>C (p.Val1441Leu)
c.3187G>C (p.Val1063Leu)
n.4564G>C
2g.227307883G=CA1332861476COL4A3,MFF-DTn.1684G=
n.887G=
c.4426G= (p.Val1476=)
c.397G= (p.Val133=)
c.112G= (p.Val38=)
n.112G=
n.48-2228C=
c.4321G= (p.Val1441=)
c.3187G= (p.Val1063=)
n.4564G=
2g.227307883G>TCA350864459COL4A3,MFF-DTn.1684G>T
n.887G>T
c.4426G>T (p.Val1476Leu)
c.397G>T (p.Val133Leu)
c.112G>T (p.Val38Leu)
n.112G>T
n.48-2228C>A
c.4321G>T (p.Val1441Leu)
c.3187G>T (p.Val1063Leu)
n.4564G>T
2g.227307884T>ACA350864462COL4A3,MFF-DTn.1685T>A
n.888T>A
c.4427T>A (p.Val1476Glu)
c.398T>A (p.Val133Glu)
c.113T>A (p.Val38Glu)
n.113T>A
n.48-2229A>T
c.4322T>A (p.Val1441Glu)
c.3188T>A (p.Val1063Glu)
n.4565T>A
2g.227307884T>CCA350864464COL4A3,MFF-DTn.1685T>C
n.888T>C
c.4427T>C (p.Val1476Ala)
c.398T>C (p.Val133Ala)
c.113T>C (p.Val38Ala)
n.113T>C
n.48-2229A>G
c.4322T>C (p.Val1441Ala)
c.3188T>C (p.Val1063Ala)
n.4565T>C
2g.227307884T>GCA350864463COL4A3,MFF-DTn.1685T>G
n.888T>G
c.4427T>G (p.Val1476Gly)
c.398T>G (p.Val133Gly)
c.113T>G (p.Val38Gly)
n.113T>G
n.48-2229A>C
c.4322T>G (p.Val1441Gly)
c.3188T>G (p.Val1063Gly)
n.4565T>G
 dbSNP
2g.227307884T=CA1332861477COL4A3,MFF-DTn.1685T=
n.888T=
c.4427T= (p.Val1476=)
c.398T= (p.Val133=)
c.113T= (p.Val38=)
n.113T=
n.48-2229A=
c.4322T= (p.Val1441=)
c.3188T= (p.Val1063=)
n.4565T=
2g.227307885A>CCA431508987COL4A3,MFF-DTn.1686A>C
n.889A>C
c.4428A>C (p.Val1476=)
c.399A>C (p.Val133=)
c.114A>C (p.Val38=)
n.114A>C
n.48-2230T>G
c.4323A>C (p.Val1441=)
c.3189A>C (p.Val1063=)
n.4566A>C
2g.227307885A>GCA431508988COL4A3,MFF-DTn.1686A>G
n.889A>G
c.4428A>G (p.Val1476=)
c.399A>G (p.Val133=)
c.114A>G (p.Val38=)
n.114A>G
n.48-2230T>C
c.4323A>G (p.Val1441=)
c.3189A>G (p.Val1063=)
n.4566A>G
2g.227307885A>TCA431508989COL4A3,MFF-DTn.1686A>T
n.889A>T
c.4428A>T (p.Val1476=)
c.399A>T (p.Val133=)
c.114A>T (p.Val38=)
n.114A>T
n.48-2230T>A
c.4323A>T (p.Val1441=)
c.3189A>T (p.Val1063=)
n.4566A>T
 ClinVar
2g.227307886C>ACA350864465COL4A3,MFF-DTn.1687C>A
n.890C>A
c.4429C>A (p.Gln1477Lys)
c.400C>A (p.Gln134Lys)
c.115C>A (p.Gln39Lys)
n.115C>A
n.48-2231G>T
c.4324C>A (p.Gln1442Lys)
c.3190C>A (p.Gln1064Lys)
n.4567C>A
2g.227307886C>GCA350864467COL4A3,MFF-DTn.1687C>G
n.890C>G
c.4429C>G (p.Gln1477Glu)
c.400C>G (p.Gln134Glu)
c.115C>G (p.Gln39Glu)
n.115C>G
n.48-2231G>C
c.4324C>G (p.Gln1442Glu)
c.3190C>G (p.Gln1064Glu)
n.4567C>G
2g.227307886C>TCA350864466COL4A3,MFF-DTn.1687C>T
n.890C>T
c.4429C>T (p.Gln1477Ter)
c.400C>T (p.Gln134Ter)
c.115C>T (p.Gln39Ter)
n.115C>T
n.48-2231G>A
c.4324C>T (p.Gln1442Ter)
c.3190C>T (p.Gln1064Ter)
n.4567C>T
 ClinVar gnomAD v4
2g.227307887A=CA1332861478COL4A3,MFF-DTn.1688A=
n.891A=
c.4430A= (p.Gln1477=)
c.401A= (p.Gln134=)
c.116A= (p.Gln39=)
n.116A=
n.48-2232T=
c.4325A= (p.Gln1442=)
c.3191A= (p.Gln1064=)
n.4568A=
2g.227307887A>CCA350864468COL4A3,MFF-DTn.1688A>C
n.891A>C
c.4430A>C (p.Gln1477Pro)
c.401A>C (p.Gln134Pro)
c.116A>C (p.Gln39Pro)
n.116A>C
n.48-2232T>G
c.4325A>C (p.Gln1442Pro)
c.3191A>C (p.Gln1064Pro)
n.4568A>C
2g.227307887A>GCA350864469COL4A3,MFF-DTn.1688A>G
n.891A>G
c.4430A>G (p.Gln1477Arg)
c.401A>G (p.Gln134Arg)
c.116A>G (p.Gln39Arg)
n.116A>G
n.48-2232T>C
c.4325A>G (p.Gln1442Arg)
c.3191A>G (p.Gln1064Arg)
n.4568A>G
 dbSNP gnomAD v4
2g.227307887A>TCA350864470COL4A3,MFF-DTn.1688A>T
n.891A>T
c.4430A>T (p.Gln1477Leu)
c.401A>T (p.Gln134Leu)
c.116A>T (p.Gln39Leu)
n.116A>T
n.48-2232T>A
c.4325A>T (p.Gln1442Leu)
c.3191A>T (p.Gln1064Leu)
n.4568A>T
2g.227307888A>CCA350864471COL4A3,MFF-DTn.1689A>C
n.892A>C
c.4431A>C (p.Gln1477His)
c.402A>C (p.Gln134His)
c.117A>C (p.Gln39His)
n.117A>C
n.48-2233T>G
c.4326A>C (p.Gln1442His)
c.3192A>C (p.Gln1064His)
n.4569A>C
2g.227307888A>GCA431508992COL4A3,MFF-DTn.1689A>G
n.892A>G
c.4431A>G (p.Gln1477=)
c.402A>G (p.Gln134=)
c.117A>G (p.Gln39=)
n.117A>G
n.48-2233T>C
c.4326A>G (p.Gln1442=)
c.3192A>G (p.Gln1064=)
n.4569A>G
2g.227307888A>TCA350864472COL4A3,MFF-DTn.1689A>T
n.892A>T
c.4431A>T (p.Gln1477His)
c.402A>T (p.Gln134His)
c.117A>T (p.Gln39His)
n.117A>T
n.48-2233T>A
c.4326A>T (p.Gln1442His)
c.3192A>T (p.Gln1064His)
n.4569A>T
2g.227307889G>ACA350864473COL4A3,MFF-DTn.1690G>A
n.893G>A
c.4432G>A (p.Gly1478Arg)
c.403G>A (p.Gly135Arg)
c.118G>A (p.Gly40Arg)
n.118G>A
n.48-2234C>T
c.4327G>A (p.Gly1443Arg)
c.3193G>A (p.Gly1065Arg)
n.4570G>A
2g.227307889G>CCA350864474COL4A3,MFF-DTn.1690G>C
n.893G>C
c.4432G>C (p.Gly1478Arg)
c.403G>C (p.Gly135Arg)
c.118G>C (p.Gly40Arg)
n.118G>C
n.48-2234C>G
c.4327G>C (p.Gly1443Arg)
c.3193G>C (p.Gly1065Arg)
n.4570G>C
 dbSNP gnomAD v4
2g.227307889G=CA1332861479COL4A3,MFF-DTn.1690G=
n.893G=
c.4432G= (p.Gly1478=)
c.403G= (p.Gly135=)
c.118G= (p.Gly40=)
n.118G=
n.48-2234C=
c.4327G= (p.Gly1443=)
c.3193G= (p.Gly1065=)
n.4570G=
2g.227307889G>TCA350864475COL4A3,MFF-DTn.1690G>T
n.893G>T
c.4432G>T (p.Gly1478Ter)
c.403G>T (p.Gly135Ter)
c.118G>T (p.Gly40Ter)
n.118G>T
n.48-2234C>A
c.4327G>T (p.Gly1443Ter)
c.3193G>T (p.Gly1065Ter)
n.4570G>T
2g.227307890G>ACA350864476COL4A3,MFF-DTn.1691G>A
n.894G>A
c.4433G>A (p.Gly1478Glu)
c.404G>A (p.Gly135Glu)
c.119G>A (p.Gly40Glu)
n.119G>A
n.48-2235C>T
c.4328G>A (p.Gly1443Glu)
c.3194G>A (p.Gly1065Glu)
n.4571G>A
 gnomAD v4
2g.227307890G>CCA350864477COL4A3,MFF-DTn.1691G>C
n.894G>C
c.4433G>C (p.Gly1478Ala)
c.404G>C (p.Gly135Ala)
c.119G>C (p.Gly40Ala)
n.119G>C
n.48-2235C>G
c.4328G>C (p.Gly1443Ala)
c.3194G>C (p.Gly1065Ala)
n.4571G>C
2g.227307890G>TCA350864478COL4A3,MFF-DTn.1691G>T
n.894G>T
c.4433G>T (p.Gly1478Val)
c.404G>T (p.Gly135Val)
c.119G>T (p.Gly40Val)
n.119G>T
n.48-2235C>A
c.4328G>T (p.Gly1443Val)
c.3194G>T (p.Gly1065Val)
n.4571G>T
 gnomAD v4
2g.227307892_227307900delCA2663431369COL4A3,MFF-DTn.1693_1701del
n.896_904del
c.4435_4443del (p.Asn1479_Arg1481del)
c.406_414del (p.Asn136_Arg138del)
c.121_129del (p.Asn41_Arg43del)
n.121_129del
n.48-2243_48-2235del
c.4330_4338del (p.Asn1444_Arg1446del)
c.3196_3204del (p.Asn1066_Arg1068del)
n.4573_4581del
 gnomAD v4
2g.227307891A=CA1332861480COL4A3,MFF-DTn.1692A=
n.895A=
c.4434A= (p.Gly1478=)
c.405A= (p.Gly135=)
c.120A= (p.Gly40=)
n.120A=
n.48-2236T=
c.4329A= (p.Gly1443=)
c.3195A= (p.Gly1065=)
n.4572A=
2g.227307891A>CCA431508994COL4A3,MFF-DTn.1692A>C
n.895A>C
c.4434A>C (p.Gly1478=)
c.405A>C (p.Gly135=)
c.120A>C (p.Gly40=)
n.120A>C
n.48-2236T>G
c.4329A>C (p.Gly1443=)
c.3195A>C (p.Gly1065=)
n.4572A>C
2g.227307891A>GCA431508995COL4A3,MFF-DTn.1692A>G
n.895A>G
c.4434A>G (p.Gly1478=)
c.405A>G (p.Gly135=)
c.120A>G (p.Gly40=)
n.120A>G
n.48-2236T>C
c.4329A>G (p.Gly1443=)
c.3195A>G (p.Gly1065=)
n.4572A>G
2g.227307891A>TCA66620256COL4A3,MFF-DTn.1692A>T
n.895A>T
c.4434A>T (p.Gly1478=)
c.405A>T (p.Gly135=)
c.120A>T (p.Gly40=)
n.120A>T
n.48-2236T>A
c.4329A>T (p.Gly1443=)
c.3195A>T (p.Gly1065=)
n.4572A>T
 dbSNP
2g.227307892A>CCA350864481COL4A3,MFF-DTn.1693A>C
n.896A>C
c.4435A>C (p.Asn1479His)
c.406A>C (p.Asn136His)
c.121A>C (p.Asn41His)
n.121A>C
n.48-2237T>G
c.4330A>C (p.Asn1444His)
c.3196A>C (p.Asn1066His)
n.4573A>C
2g.227307892A>GCA350864479COL4A3,MFF-DTn.1693A>G
n.896A>G
c.4435A>G (p.Asn1479Asp)
c.406A>G (p.Asn136Asp)
c.121A>G (p.Asn41Asp)
n.121A>G
n.48-2237T>C
c.4330A>G (p.Asn1444Asp)
c.3196A>G (p.Asn1066Asp)
n.4573A>G
2g.227307892A>TCA350864480COL4A3,MFF-DTn.1693A>T
n.896A>T
c.4435A>T (p.Asn1479Tyr)
c.406A>T (p.Asn136Tyr)
c.121A>T (p.Asn41Tyr)
n.121A>T
n.48-2237T>A
c.4330A>T (p.Asn1444Tyr)
c.3196A>T (p.Asn1066Tyr)
n.4573A>T
2g.227307893A>CCA350864482COL4A3,MFF-DTn.1694A>C
n.897A>C
c.4436A>C (p.Asn1479Thr)
c.407A>C (p.Asn136Thr)
c.122A>C (p.Asn41Thr)
n.122A>C
n.48-2238T>G
c.4331A>C (p.Asn1444Thr)
c.3197A>C (p.Asn1066Thr)
n.4574A>C
2g.227307893A>GCA350864483COL4A3,MFF-DTn.1694A>G
n.897A>G
c.4436A>G (p.Asn1479Ser)
c.407A>G (p.Asn136Ser)
c.122A>G (p.Asn41Ser)
n.122A>G
n.48-2238T>C
c.4331A>G (p.Asn1444Ser)
c.3197A>G (p.Asn1066Ser)
n.4574A>G
2g.227307893A>TCA350864484COL4A3,MFF-DTn.1694A>T
n.897A>T
c.4436A>T (p.Asn1479Ile)
c.407A>T (p.Asn136Ile)
c.122A>T (p.Asn41Ile)
n.122A>T
n.48-2238T>A
c.4331A>T (p.Asn1444Ile)
c.3197A>T (p.Asn1066Ile)
n.4574A>T
2g.227307894T>ACA350864485COL4A3,MFF-DTn.1695T>A
n.898T>A
c.4437T>A (p.Asn1479Lys)
c.408T>A (p.Asn136Lys)
c.123T>A (p.Asn41Lys)
n.123T>A
n.48-2239A>T
c.4332T>A (p.Asn1444Lys)
c.3198T>A (p.Asn1066Lys)
n.4575T>A
2g.227307894T>CCA431508999COL4A3,MFF-DTn.1695T>C
n.898T>C
c.4437T>C (p.Asn1479=)
c.408T>C (p.Asn136=)
c.123T>C (p.Asn41=)
n.123T>C
n.48-2239A>G
c.4332T>C (p.Asn1444=)
c.3198T>C (p.Asn1066=)
n.4575T>C
2g.227307894T>GCA350864486COL4A3,MFF-DTn.1695T>G
n.898T>G
c.4437T>G (p.Asn1479Lys)
c.408T>G (p.Asn136Lys)
c.123T>G (p.Asn41Lys)
n.123T>G
n.48-2239A>C
c.4332T>G (p.Asn1444Lys)
c.3198T>G (p.Asn1066Lys)
n.4575T>G
2g.227307895C>ACA350864487COL4A3,MFF-DTn.1696C>A
n.899C>A
c.4438C>A (p.Gln1480Lys)
c.409C>A (p.Gln137Lys)
c.124C>A (p.Gln42Lys)
n.124C>A
n.48-2240G>T
c.4333C>A (p.Gln1445Lys)
c.3199C>A (p.Gln1067Lys)
n.4576C>A
2g.227307895C=CA1332861481COL4A3,MFF-DTn.1696C=
n.899C=
c.4438C= (p.Gln1480=)
c.409C= (p.Gln137=)
c.124C= (p.Gln42=)
n.124C=
n.48-2240G=
c.4333C= (p.Gln1445=)
c.3199C= (p.Gln1067=)
n.4576C=
2g.227307895C>GCA350864488COL4A3,MFF-DTn.1696C>G
n.899C>G
c.4438C>G (p.Gln1480Glu)
c.409C>G (p.Gln137Glu)
c.124C>G (p.Gln42Glu)
n.124C>G
n.48-2240G>C
c.4333C>G (p.Gln1445Glu)
c.3199C>G (p.Gln1067Glu)
n.4576C>G
2g.227307895C>TCA350864489COL4A3,MFF-DTn.1696C>T
n.899C>T
c.4438C>T (p.Gln1480Ter)
c.409C>T (p.Gln137Ter)
c.124C>T (p.Gln42Ter)
n.124C>T
n.48-2240G>A
c.4333C>T (p.Gln1445Ter)
c.3199C>T (p.Gln1067Ter)
n.4576C>T
 dbSNP
2g.227307896A>CCA350864490COL4A3,MFF-DTn.1697A>C
n.900A>C
c.4439A>C (p.Gln1480Pro)
c.410A>C (p.Gln137Pro)
c.125A>C (p.Gln42Pro)
n.125A>C
n.48-2241T>G
c.4334A>C (p.Gln1445Pro)
c.3200A>C (p.Gln1067Pro)
n.4577A>C
2g.227307896A>GCA350864491COL4A3,MFF-DTn.1697A>G
n.900A>G
c.4439A>G (p.Gln1480Arg)
c.410A>G (p.Gln137Arg)
c.125A>G (p.Gln42Arg)
n.125A>G
n.48-2241T>C
c.4334A>G (p.Gln1445Arg)
c.3200A>G (p.Gln1067Arg)
n.4577A>G
2g.227307896A>TCA350864492COL4A3,MFF-DTn.1697A>T
n.900A>T
c.4439A>T (p.Gln1480Leu)
c.410A>T (p.Gln137Leu)
c.125A>T (p.Gln42Leu)
n.125A>T
n.48-2241T>A
c.4334A>T (p.Gln1445Leu)
c.3200A>T (p.Gln1067Leu)
n.4577A>T
2g.227307897A>CCA350864493COL4A3,MFF-DTn.1698A>C
n.901A>C
c.4440A>C (p.Gln1480His)
c.411A>C (p.Gln137His)
c.126A>C (p.Gln42His)
n.126A>C
n.48-2242T>G
c.4335A>C (p.Gln1445His)
c.3201A>C (p.Gln1067His)
n.4578A>C
2g.227307897A>GCA431509001COL4A3,MFF-DTn.1698A>G
n.901A>G
c.4440A>G (p.Gln1480=)
c.411A>G (p.Gln137=)
c.126A>G (p.Gln42=)
n.126A>G
n.48-2242T>C
c.4335A>G (p.Gln1445=)
c.3201A>G (p.Gln1067=)
n.4578A>G
2g.227307897A>TCA350864494COL4A3,MFF-DTn.1698A>T
n.901A>T
c.4440A>T (p.Gln1480His)
c.411A>T (p.Gln137His)
c.126A>T (p.Gln42His)
n.126A>T
n.48-2242T>A
c.4335A>T (p.Gln1445His)
c.3201A>T (p.Gln1067His)
n.4578A>T
2g.227307898C>ACA431509002COL4A3,MFF-DTn.1699C>A
n.902C>A
c.4441C>A (p.Arg1481=)
c.412C>A (p.Arg138=)
c.127C>A (p.Arg43=)
n.127C>A
n.48-2243G>T
c.4336C>A (p.Arg1446=)
c.3202C>A (p.Arg1068=)
n.4579C>A
2g.227307898C=CA1332861482COL4A3,MFF-DTn.1699C=
n.902C=
c.4441C= (p.Arg1481=)
c.412C= (p.Arg138=)
c.127C= (p.Arg43=)
n.127C=
n.48-2243G=
c.4336C= (p.Arg1446=)
c.3202C= (p.Arg1068=)
n.4579C=
2g.227307898C>GCA350864495COL4A3,MFF-DTn.1699C>G
n.902C>G
c.4441C>G (p.Arg1481Gly)
c.412C>G (p.Arg138Gly)
c.127C>G (p.Arg43Gly)
n.127C>G
n.48-2243G>C
c.4336C>G (p.Arg1446Gly)
c.3202C>G (p.Arg1068Gly)
n.4579C>G
2g.227307898C>TCA257967COL4A3,MFF-DTn.1699C>T
n.902C>T
c.4441C>T (p.Arg1481Ter)
c.412C>T (p.Arg138Ter)
c.127C>T (p.Arg43Ter)
n.127C>T
n.48-2243G>A
c.4336C>T (p.Arg1446Ter)
c.3202C>T (p.Arg1068Ter)
n.4579C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307899G>ACA2147536COL4A3,MFF-DTn.1700G>A
n.903G>A
c.4442G>A (p.Arg1481Gln)
c.413G>A (p.Arg138Gln)
c.128G>A (p.Arg43Gln)
n.128G>A
n.48-2244C>T
c.4337G>A (p.Arg1446Gln)
c.3203G>A (p.Arg1068Gln)
n.4580G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
2g.227307899G>CCA350864496COL4A3,MFF-DTn.1700G>C
n.903G>C
c.4442G>C (p.Arg1481Pro)
c.413G>C (p.Arg138Pro)
c.128G>C (p.Arg43Pro)
n.128G>C
n.48-2244C>G
c.4337G>C (p.Arg1446Pro)
c.3203G>C (p.Arg1068Pro)
n.4580G>C
2g.227307899G=CA1332861483COL4A3,MFF-DTn.1700G=
n.903G=
c.4442G= (p.Arg1481=)
c.413G= (p.Arg138=)
c.128G= (p.Arg43=)
n.128G=
n.48-2244C=
c.4337G= (p.Arg1446=)
c.3203G= (p.Arg1068=)
n.4580G=
2g.227307899G>TCA350864497COL4A3,MFF-DTn.1700G>T
n.903G>T
c.4442G>T (p.Arg1481Leu)
c.413G>T (p.Arg138Leu)
c.128G>T (p.Arg43Leu)
n.128G>T
n.48-2244C>A
c.4337G>T (p.Arg1446Leu)
c.3203G>T (p.Arg1068Leu)
n.4580G>T
2g.227307900A>CCA431509007COL4A3,MFF-DTn.1701A>C
n.904A>C
c.4443A>C (p.Arg1481=)
c.414A>C (p.Arg138=)
c.129A>C (p.Arg43=)
n.129A>C
n.48-2245T>G
c.4338A>C (p.Arg1446=)
c.3204A>C (p.Arg1068=)
n.4581A>C
2g.227307900A>GCA431509008COL4A3,MFF-DTn.1701A>G
n.904A>G
c.4443A>G (p.Arg1481=)
c.414A>G (p.Arg138=)
c.129A>G (p.Arg43=)
n.129A>G
n.48-2245T>C
c.4338A>G (p.Arg1446=)
c.3204A>G (p.Arg1068=)
n.4581A>G
2g.227307900A>TCA431509009COL4A3,MFF-DTn.1701A>T
n.904A>T
c.4443A>T (p.Arg1481=)
c.414A>T (p.Arg138=)
c.129A>T (p.Arg43=)
n.129A>T
n.48-2245T>A
c.4338A>T (p.Arg1446=)
c.3204A>T (p.Arg1068=)
n.4581A>T
2g.227307901G>ACA350864500COL4A3,MFF-DTn.1702G>A
n.905G>A
c.4444G>A (p.Ala1482Thr)
c.415G>A (p.Ala139Thr)
c.130G>A (p.Ala44Thr)
n.130G>A
n.48-2246C>T
c.4339G>A (p.Ala1447Thr)
c.3205G>A (p.Ala1069Thr)
n.4582G>A
 dbSNP gnomAD v3 gnomAD v4
2g.227307901G>CCA350864499COL4A3,MFF-DTn.1702G>C
n.905G>C
c.4444G>C (p.Ala1482Pro)
c.415G>C (p.Ala139Pro)
c.130G>C (p.Ala44Pro)
n.130G>C
n.48-2246C>G
c.4339G>C (p.Ala1447Pro)
c.3205G>C (p.Ala1069Pro)
n.4582G>C
2g.227307901G=CA1332861484COL4A3,MFF-DTn.1702G=
n.905G=
c.4444G= (p.Ala1482=)
c.415G= (p.Ala139=)
c.130G= (p.Ala44=)
n.130G=
n.48-2246C=
c.4339G= (p.Ala1447=)
c.3205G= (p.Ala1069=)
n.4582G=
2g.227307901G>TCA350864498COL4A3,MFF-DTn.1702G>T
n.905G>T
c.4444G>T (p.Ala1482Ser)
c.415G>T (p.Ala139Ser)
c.130G>T (p.Ala44Ser)
n.130G>T
n.48-2246C>A
c.4339G>T (p.Ala1447Ser)
c.3205G>T (p.Ala1069Ser)
n.4582G>T
 dbSNP
2g.227307902C>ACA350864501COL4A3,MFF-DTn.1703C>A
n.906C>A
c.4445C>A (p.Ala1482Asp)
c.416C>A (p.Ala139Asp)
c.131C>A (p.Ala44Asp)
n.131C>A
n.48-2247G>T
c.4340C>A (p.Ala1447Asp)
c.3206C>A (p.Ala1069Asp)
n.4583C>A
2g.227307902C=CA1332861485COL4A3,MFF-DTn.1703C=
n.906C=
c.4445C= (p.Ala1482=)
c.416C= (p.Ala139=)
c.131C= (p.Ala44=)
n.131C=
n.48-2247G=
c.4340C= (p.Ala1447=)
c.3206C= (p.Ala1069=)
n.4583C=
2g.227307902C>GCA2147538COL4A3,MFF-DTn.1703C>G
n.906C>G
c.4445C>G (p.Ala1482Gly)
c.416C>G (p.Ala139Gly)
c.131C>G (p.Ala44Gly)
n.131C>G
n.48-2247G>C
c.4340C>G (p.Ala1447Gly)
c.3206C>G (p.Ala1069Gly)
n.4583C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227307902C>TCA2147537COL4A3,MFF-DTn.1703C>T
n.906C>T
c.4445C>T (p.Ala1482Val)
c.416C>T (p.Ala139Val)
c.131C>T (p.Ala44Val)
n.131C>T
n.48-2247G>A
c.4340C>T (p.Ala1447Val)
c.3206C>T (p.Ala1069Val)
n.4583C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307903C>ACA431509010COL4A3,MFF-DTn.1704C>A
n.907C>A
c.4446C>A (p.Ala1482=)
c.417C>A (p.Ala139=)
c.132C>A (p.Ala44=)
n.132C>A
n.48-2248G>T
c.4341C>A (p.Ala1447=)
c.3207C>A (p.Ala1069=)
n.4584C>A
2g.227307903C>GCA431509011COL4A3,MFF-DTn.1704C>G
n.907C>G
c.4446C>G (p.Ala1482=)
c.417C>G (p.Ala139=)
c.132C>G (p.Ala44=)
n.132C>G
n.48-2248G>C
c.4341C>G (p.Ala1447=)
c.3207C>G (p.Ala1069=)
n.4584C>G
2g.227307903C>TCA431509012COL4A3,MFF-DTn.1704C>T
n.907C>T
c.4446C>T (p.Ala1482=)
c.417C>T (p.Ala139=)
c.132C>T (p.Ala44=)
n.132C>T
n.48-2248G>A
c.4341C>T (p.Ala1447=)
c.3207C>T (p.Ala1069=)
n.4584C>T
 COSMIC COSMIC
2g.227307904C>ACA350864502COL4A3,MFF-DTn.1705C>A
n.908C>A
c.4447C>A (p.His1483Asn)
c.418C>A (p.His140Asn)
c.133C>A (p.His45Asn)
n.133C>A
n.48-2249G>T
c.4342C>A (p.His1448Asn)
c.3208C>A (p.His1070Asn)
n.4585C>A
2g.227307904C>GCA350864503COL4A3,MFF-DTn.1705C>G
n.908C>G
c.4447C>G (p.His1483Asp)
c.418C>G (p.His140Asp)
c.133C>G (p.His45Asp)
n.133C>G
n.48-2249G>C
c.4342C>G (p.His1448Asp)
c.3208C>G (p.His1070Asp)
n.4585C>G
2g.227307904C>TCA350864504COL4A3,MFF-DTn.1705C>T
n.908C>T
c.4447C>T (p.His1483Tyr)
c.418C>T (p.His140Tyr)
c.133C>T (p.His45Tyr)
n.133C>T
n.48-2249G>A
c.4342C>T (p.His1448Tyr)
c.3208C>T (p.His1070Tyr)
n.4585C>T
2g.227307905A>CCA350864505COL4A3,MFF-DTn.1706A>C
n.909A>C
c.4448A>C (p.His1483Pro)
c.419A>C (p.His140Pro)
c.134A>C (p.His45Pro)
n.134A>C
n.48-2250T>G
c.4343A>C (p.His1448Pro)
c.3209A>C (p.His1070Pro)
n.4586A>C
2g.227307905A>GCA350864507COL4A3,MFF-DTn.1706A>G
n.909A>G
c.4448A>G (p.His1483Arg)
c.419A>G (p.His140Arg)
c.134A>G (p.His45Arg)
n.134A>G
n.48-2250T>C
c.4343A>G (p.His1448Arg)
c.3209A>G (p.His1070Arg)
n.4586A>G
 gnomAD v4
2g.227307905A>TCA350864506COL4A3,MFF-DTn.1706A>T
n.909A>T
c.4448A>T (p.His1483Leu)
c.419A>T (p.His140Leu)
c.134A>T (p.His45Leu)
n.134A>T
n.48-2250T>A
c.4343A>T (p.His1448Leu)
c.3209A>T (p.His1070Leu)
n.4586A>T
2g.227307906C>ACA350864508COL4A3,MFF-DTn.1707C>A
n.910C>A
c.4449C>A (p.His1483Gln)
c.420C>A (p.His140Gln)
c.135C>A (p.His45Gln)
n.135C>A
n.48-2251G>T
c.4344C>A (p.His1448Gln)
c.3210C>A (p.His1070Gln)
n.4587C>A
2g.227307906C=CA1332861486COL4A3,MFF-DTn.1707C=
n.910C=
c.4449C= (p.His1483=)
c.420C= (p.His140=)
c.135C= (p.His45=)
n.135C=
n.48-2251G=
c.4344C= (p.His1448=)
c.3210C= (p.His1070=)
n.4587C=
2g.227307906C>GCA350864509COL4A3,MFF-DTn.1707C>G
n.910C>G
c.4449C>G (p.His1483Gln)
c.420C>G (p.His140Gln)
c.135C>G (p.His45Gln)
n.135C>G
n.48-2251G>C
c.4344C>G (p.His1448Gln)
c.3210C>G (p.His1070Gln)
n.4587C>G
2g.227307906C>TCA2147539COL4A3,MFF-DTn.1707C>T
n.910C>T
c.4449C>T (p.His1483=)
c.420C>T (p.His140=)
c.135C>T (p.His45=)
n.135C>T
n.48-2251G>A
c.4344C>T (p.His1448=)
c.3210C>T (p.His1070=)
n.4587C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307907G>ACA66620311COL4A3,MFF-DTn.1708G>A
n.911G>A
c.4450G>A (p.Gly1484Arg)
c.421G>A (p.Gly141Arg)
c.136G>A (p.Gly46Arg)
n.136G>A
n.48-2252C>T
c.4345G>A (p.Gly1449Arg)
c.3211G>A (p.Gly1071Arg)
n.4588G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227307907G>CCA350864510COL4A3,MFF-DTn.1708G>C
n.911G>C
c.4450G>C (p.Gly1484Arg)
c.421G>C (p.Gly141Arg)
c.136G>C (p.Gly46Arg)
n.136G>C
n.48-2252C>G
c.4345G>C (p.Gly1449Arg)
c.3211G>C (p.Gly1071Arg)
n.4588G>C
 COSMIC COSMIC
2g.227307907G=CA1332861487COL4A3,MFF-DTn.1708G=
n.911G=
c.4450G= (p.Gly1484=)
c.421G= (p.Gly141=)
c.136G= (p.Gly46=)
n.136G=
n.48-2252C=
c.4345G= (p.Gly1449=)
c.3211G= (p.Gly1071=)
n.4588G=
2g.227307907G>TCA350864511COL4A3,MFF-DTn.1708G>T
n.911G>T
c.4450G>T (p.Gly1484Ter)
c.421G>T (p.Gly141Ter)
c.136G>T (p.Gly46Ter)
n.136G>T
n.48-2252C>A
c.4345G>T (p.Gly1449Ter)
c.3211G>T (p.Gly1071Ter)
n.4588G>T
 ClinVar
2g.227307907_227307908insACA2663431370COL4A3,MFF-DTn.1708_1709insA
n.911_912insA
c.4450_4451insA (p.Gly1484GlufsTer26)
c.421_422insA (p.Gly141GlufsTer5)
c.136_137insA (p.Gly46GlufsTer26)
n.136_137insA
n.48-2253_48-2252insT
c.4345_4346insA (p.Gly1449GlufsTer26)
c.3211_3212insA (p.Gly1071GlufsTer26)
n.4588_4589insA
 gnomAD v4
2g.227307908G>ACA350864512COL4A3,MFF-DTn.1709G>A
n.912G>A
c.4451G>A (p.Gly1484Glu)
c.422G>A (p.Gly141Glu)
c.137G>A (p.Gly46Glu)
n.137G>A
n.48-2253C>T
c.4346G>A (p.Gly1449Glu)
c.3212G>A (p.Gly1071Glu)
n.4589G>A
 COSMIC COSMIC
2g.227307908G>CCA350864513COL4A3,MFF-DTn.1709G>C
n.912G>C
c.4451G>C (p.Gly1484Ala)
c.422G>C (p.Gly141Ala)
c.137G>C (p.Gly46Ala)
n.137G>C
n.48-2253C>G
c.4346G>C (p.Gly1449Ala)
c.3212G>C (p.Gly1071Ala)
n.4589G>C
2g.227307908G>TCA350864514COL4A3,MFF-DTn.1709G>T
n.912G>T
c.4451G>T (p.Gly1484Val)
c.422G>T (p.Gly141Val)
c.137G>T (p.Gly46Val)
n.137G>T
n.48-2253C>A
c.4346G>T (p.Gly1449Val)
c.3212G>T (p.Gly1071Val)
n.4589G>T
2g.227307909A=CA1332861488COL4A3,MFF-DTn.1710A=
n.913A=
c.4452A= (p.Gly1484=)
c.423A= (p.Gly141=)
c.138A= (p.Gly46=)
n.138A=
n.48-2254T=
c.4347A= (p.Gly1449=)
c.3213A= (p.Gly1071=)
n.4590A=
2g.227307909A>CCA431509031COL4A3,MFF-DTn.1710A>C
n.913A>C
c.4452A>C (p.Gly1484=)
c.423A>C (p.Gly141=)
c.138A>C (p.Gly46=)
n.138A>C
n.48-2254T>G
c.4347A>C (p.Gly1449=)
c.3213A>C (p.Gly1071=)
n.4590A>C
 ClinVar dbSNP
2g.227307909A>GCA2147540COL4A3,MFF-DTn.1710A>G
n.913A>G
c.4452A>G (p.Gly1484=)
c.423A>G (p.Gly141=)
c.138A>G (p.Gly46=)
n.138A>G
n.48-2254T>C
c.4347A>G (p.Gly1449=)
c.3213A>G (p.Gly1071=)
n.4590A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307909A>TCA431509032COL4A3,MFF-DTn.1710A>T
n.913A>T
c.4452A>T (p.Gly1484=)
c.423A>T (p.Gly141=)
c.138A>T (p.Gly46=)
n.138A>T
n.48-2254T>A
c.4347A>T (p.Gly1449=)
c.3213A>T (p.Gly1071=)
n.4590A>T
2g.227307910C>ACA350864517COL4A3,MFF-DTn.1711C>A
n.914C>A
c.4453C>A (p.Gln1485Lys)
c.424C>A (p.Gln142Lys)
c.139C>A (p.Gln47Lys)
n.139C>A
n.48-2255G>T
c.4348C>A (p.Gln1450Lys)
c.3214C>A (p.Gln1072Lys)
n.4591C>A
2g.227307910C>GCA350864516COL4A3,MFF-DTn.1711C>G
n.914C>G
c.4453C>G (p.Gln1485Glu)
c.424C>G (p.Gln142Glu)
c.139C>G (p.Gln47Glu)
n.139C>G
n.48-2255G>C
c.4348C>G (p.Gln1450Glu)
c.3214C>G (p.Gln1072Glu)
n.4591C>G
2g.227307910C>TCA350864515COL4A3,MFF-DTn.1711C>T
n.914C>T
c.4453C>T (p.Gln1485Ter)
c.424C>T (p.Gln142Ter)
c.139C>T (p.Gln47Ter)
n.139C>T
n.48-2255G>A
c.4348C>T (p.Gln1450Ter)
c.3214C>T (p.Gln1072Ter)
n.4591C>T

Number of alleles fetched