Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227307798C>ACA431508885COL4A3,MFF-DTn.1599C>A
n.802C>A
c.4341C>A (p.Val1447=)
c.312C>A (p.Val104=)
c.27C>A (p.Val9=)
n.27C>A
n.48-2143G>T
c.4236C>A (p.Val1412=)
c.3102C>A (p.Val1034=)
n.4479C>A
2g.227307798C>GCA431508888COL4A3,MFF-DTn.1599C>G
n.802C>G
c.4341C>G (p.Val1447=)
c.312C>G (p.Val104=)
c.27C>G (p.Val9=)
n.27C>G
n.48-2143G>C
c.4236C>G (p.Val1412=)
c.3102C>G (p.Val1034=)
n.4479C>G
2g.227307798C>TCA431508886COL4A3,MFF-DTn.1599C>T
n.802C>T
c.4341C>T (p.Val1447=)
c.312C>T (p.Val104=)
c.27C>T (p.Val9=)
n.27C>T
n.48-2143G>A
c.4236C>T (p.Val1412=)
c.3102C>T (p.Val1034=)
n.4479C>T
2g.227307799T>ACA350864285COL4A3,MFF-DTn.1600T>A
n.803T>A
c.4342T>A (p.Phe1448Ile)
c.313T>A (p.Phe105Ile)
c.28T>A (p.Phe10Ile)
n.28T>A
n.48-2144A>T
c.4237T>A (p.Phe1413Ile)
c.3103T>A (p.Phe1035Ile)
n.4480T>A
2g.227307799T>CCA2147513COL4A3,MFF-DTn.1600T>C
n.803T>C
c.4342T>C (p.Phe1448Leu)
c.313T>C (p.Phe105Leu)
c.28T>C (p.Phe10Leu)
n.28T>C
n.48-2144A>G
c.4237T>C (p.Phe1413Leu)
c.3103T>C (p.Phe1035Leu)
n.4480T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307799T>GCA350864286COL4A3,MFF-DTn.1600T>G
n.803T>G
c.4342T>G (p.Phe1448Val)
c.313T>G (p.Phe105Val)
c.28T>G (p.Phe10Val)
n.28T>G
n.48-2144A>C
c.4237T>G (p.Phe1413Val)
c.3103T>G (p.Phe1035Val)
n.4480T>G
2g.227307799T=CA1332861436COL4A3,MFF-DTn.1600T=
n.803T=
c.4342T= (p.Phe1448=)
c.313T= (p.Phe105=)
c.28T= (p.Phe10=)
n.28T=
n.48-2144A=
c.4237T= (p.Phe1413=)
c.3103T= (p.Phe1035=)
n.4480T=
2g.227307800T>ACA350864287COL4A3,MFF-DTn.1601T>A
n.804T>A
c.4343T>A (p.Phe1448Tyr)
c.314T>A (p.Phe105Tyr)
c.29T>A (p.Phe10Tyr)
n.29T>A
n.48-2145A>T
c.4238T>A (p.Phe1413Tyr)
c.3104T>A (p.Phe1035Tyr)
n.4481T>A
2g.227307800T>CCA350864288COL4A3,MFF-DTn.1601T>C
n.804T>C
c.4343T>C (p.Phe1448Ser)
c.314T>C (p.Phe105Ser)
c.29T>C (p.Phe10Ser)
n.29T>C
n.48-2145A>G
c.4238T>C (p.Phe1413Ser)
c.3104T>C (p.Phe1035Ser)
n.4481T>C
2g.227307800T>GCA350864289COL4A3,MFF-DTn.1601T>G
n.804T>G
c.4343T>G (p.Phe1448Cys)
c.314T>G (p.Phe105Cys)
c.29T>G (p.Phe10Cys)
n.29T>G
n.48-2145A>C
c.4238T>G (p.Phe1413Cys)
c.3104T>G (p.Phe1035Cys)
n.4481T>G
2g.227307800_227307807delCA913089956COL4A3,MFF-DTn.1601_1608del
n.804_811del
c.4343_4350del (p.Phe1448SerfsTer?)
c.314_321del (p.Phe105SerfsTer?)
c.29_36del (p.Phe10SerfsTer?)
n.29_36del
n.48-2152_48-2145del
c.4238_4245del (p.Phe1413SerfsTer?)
c.3104_3111del (p.Phe1035SerfsTer?)
n.4481_4488del
2g.227307800_227307807delinsTCACCCGACA1332861437COL4A3,MFF-DTn.1601_1608delinsTCACCCGA
n.804_811delinsTCACCCGA
c.4343_4350delinsTCACCCGA (p.Phe1448=)
c.314_321delinsTCACCCGA (p.Phe105=)
c.29_36delinsTCACCCGA (p.Phe10=)
n.29_36delinsTCACCCGA
n.48-2152_48-2145delinsTCGGGTGA
c.4238_4245delinsTCACCCGA (p.Phe1413=)
c.3104_3111delinsTCACCCGA (p.Phe1035=)
n.4481_4488delinsTCACCCGA
2g.227307801C>ACA350864290COL4A3,MFF-DTn.1602C>A
n.805C>A
c.4344C>A (p.Phe1448Leu)
c.315C>A (p.Phe105Leu)
c.30C>A (p.Phe10Leu)
n.30C>A
n.48-2146G>T
c.4239C>A (p.Phe1413Leu)
c.3105C>A (p.Phe1035Leu)
n.4482C>A
2g.227307801C>GCA350864291COL4A3,MFF-DTn.1602C>G
n.805C>G
c.4344C>G (p.Phe1448Leu)
c.315C>G (p.Phe105Leu)
c.30C>G (p.Phe10Leu)
n.30C>G
n.48-2146G>C
c.4239C>G (p.Phe1413Leu)
c.3105C>G (p.Phe1035Leu)
n.4482C>G
2g.227307801C>TCA431508889COL4A3,MFF-DTn.1602C>T
n.805C>T
c.4344C>T (p.Phe1448=)
c.315C>T (p.Phe105=)
c.30C>T (p.Phe10=)
n.30C>T
n.48-2146G>A
c.4239C>T (p.Phe1413=)
c.3105C>T (p.Phe1035=)
n.4482C>T
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.227307802A=CA1332861438COL4A3,MFF-DTn.1603A=
n.806A=
c.4345A= (p.Thr1449=)
c.316A= (p.Thr106=)
c.31A= (p.Thr11=)
n.31A=
n.48-2147T=
c.4240A= (p.Thr1414=)
c.3106A= (p.Thr1036=)
n.4483A=
2g.227307802A>CCA2147515COL4A3,MFF-DTn.1603A>C
n.806A>C
c.4345A>C (p.Thr1449Pro)
c.316A>C (p.Thr106Pro)
c.31A>C (p.Thr11Pro)
n.31A>C
n.48-2147T>G
c.4240A>C (p.Thr1414Pro)
c.3106A>C (p.Thr1036Pro)
n.4483A>C
 dbSNP ExAC gnomAD v2
2g.227307802A>GCA350864293COL4A3,MFF-DTn.1603A>G
n.806A>G
c.4345A>G (p.Thr1449Ala)
c.316A>G (p.Thr106Ala)
c.31A>G (p.Thr11Ala)
n.31A>G
n.48-2147T>C
c.4240A>G (p.Thr1414Ala)
c.3106A>G (p.Thr1036Ala)
n.4483A>G
2g.227307802A>TCA350864292COL4A3,MFF-DTn.1603A>T
n.806A>T
c.4345A>T (p.Thr1449Ser)
c.316A>T (p.Thr106Ser)
c.31A>T (p.Thr11Ser)
n.31A>T
n.48-2147T>A
c.4240A>T (p.Thr1414Ser)
c.3106A>T (p.Thr1036Ser)
n.4483A>T
2g.227307803C>ACA350864296COL4A3,MFF-DTn.1604C>A
n.807C>A
c.4346C>A (p.Thr1449Asn)
c.317C>A (p.Thr106Asn)
c.32C>A (p.Thr11Asn)
n.32C>A
n.48-2148G>T
c.4241C>A (p.Thr1414Asn)
c.3107C>A (p.Thr1036Asn)
n.4484C>A
2g.227307803C>GCA350864294COL4A3,MFF-DTn.1604C>G
n.807C>G
c.4346C>G (p.Thr1449Ser)
c.317C>G (p.Thr106Ser)
c.32C>G (p.Thr11Ser)
n.32C>G
n.48-2148G>C
c.4241C>G (p.Thr1414Ser)
c.3107C>G (p.Thr1036Ser)
n.4484C>G
2g.227307803C>TCA350864295COL4A3,MFF-DTn.1604C>T
n.807C>T
c.4346C>T (p.Thr1449Ile)
c.317C>T (p.Thr106Ile)
c.32C>T (p.Thr11Ile)
n.32C>T
n.48-2148G>A
c.4241C>T (p.Thr1414Ile)
c.3107C>T (p.Thr1036Ile)
n.4484C>T
2g.227307804C>ACA431508891COL4A3,MFF-DTn.1605C>A
n.808C>A
c.4347C>A (p.Thr1449=)
c.318C>A (p.Thr106=)
c.33C>A (p.Thr11=)
n.33C>A
n.48-2149G>T
c.4242C>A (p.Thr1414=)
c.3108C>A (p.Thr1036=)
n.4485C>A
2g.227307804C>GCA431508893COL4A3,MFF-DTn.1605C>G
n.808C>G
c.4347C>G (p.Thr1449=)
c.318C>G (p.Thr106=)
c.33C>G (p.Thr11=)
n.33C>G
n.48-2149G>C
c.4242C>G (p.Thr1414=)
c.3108C>G (p.Thr1036=)
n.4485C>G
2g.227307804C>TCA431508894COL4A3,MFF-DTn.1605C>T
n.808C>T
c.4347C>T (p.Thr1449=)
c.318C>T (p.Thr106=)
c.33C>T (p.Thr11=)
n.33C>T
n.48-2149G>A
c.4242C>T (p.Thr1414=)
c.3108C>T (p.Thr1036=)
n.4485C>T
2g.227307805C>ACA431508895COL4A3,MFF-DTn.1606C>A
n.809C>A
c.4348C>A (p.Arg1450=)
c.319C>A (p.Arg107=)
c.34C>A (p.Arg12=)
n.34C>A
n.48-2150G>T
c.4243C>A (p.Arg1415=)
c.3109C>A (p.Arg1037=)
n.4486C>A
2g.227307805C=CA1332861439COL4A3,MFF-DTn.1606C=
n.809C=
c.4348C= (p.Arg1450=)
c.319C= (p.Arg107=)
c.34C= (p.Arg12=)
n.34C=
n.48-2150G=
c.4243C= (p.Arg1415=)
c.3109C= (p.Arg1037=)
n.4486C=
2g.227307805C>GCA350864297COL4A3,MFF-DTn.1606C>G
n.809C>G
c.4348C>G (p.Arg1450Gly)
c.319C>G (p.Arg107Gly)
c.34C>G (p.Arg12Gly)
n.34C>G
n.48-2150G>C
c.4243C>G (p.Arg1415Gly)
c.3109C>G (p.Arg1037Gly)
n.4486C>G
 gnomAD v4
2g.227307805C>TCA350864298COL4A3,MFF-DTn.1606C>T
n.809C>T
c.4348C>T (p.Arg1450Ter)
c.319C>T (p.Arg107Ter)
c.34C>T (p.Arg12Ter)
n.34C>T
n.48-2150G>A
c.4243C>T (p.Arg1415Ter)
c.3109C>T (p.Arg1037Ter)
n.4486C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227307806G>ACA2147516COL4A3,MFF-DTn.1607G>A
n.810G>A
c.4349G>A (p.Arg1450Gln)
c.320G>A (p.Arg107Gln)
c.35G>A (p.Arg12Gln)
n.35G>A
n.48-2151C>T
c.4244G>A (p.Arg1415Gln)
c.3110G>A (p.Arg1037Gln)
n.4487G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227307806G>CCA350864299COL4A3,MFF-DTn.1607G>C
n.810G>C
c.4349G>C (p.Arg1450Pro)
c.320G>C (p.Arg107Pro)
c.35G>C (p.Arg12Pro)
n.35G>C
n.48-2151C>G
c.4244G>C (p.Arg1415Pro)
c.3110G>C (p.Arg1037Pro)
n.4487G>C
2g.227307806G=CA1332861440COL4A3,MFF-DTn.1607G=
n.810G=
c.4349G= (p.Arg1450=)
c.320G= (p.Arg107=)
c.35G= (p.Arg12=)
n.35G=
n.48-2151C=
c.4244G= (p.Arg1415=)
c.3110G= (p.Arg1037=)
n.4487G=
2g.227307806G>TCA350864300COL4A3,MFF-DTn.1607G>T
n.810G>T
c.4349G>T (p.Arg1450Leu)
c.320G>T (p.Arg107Leu)
c.35G>T (p.Arg12Leu)
n.35G>T
n.48-2151C>A
c.4244G>T (p.Arg1415Leu)
c.3110G>T (p.Arg1037Leu)
n.4487G>T
2g.227307807A>CCA431508901COL4A3,MFF-DTn.1608A>C
n.811A>C
c.4350A>C (p.Arg1450=)
c.321A>C (p.Arg107=)
c.36A>C (p.Arg12=)
n.36A>C
n.48-2152T>G
c.4245A>C (p.Arg1415=)
c.3111A>C (p.Arg1037=)
n.4488A>C
 dbSNP
2g.227307807A>GCA431508900COL4A3,MFF-DTn.1608A>G
n.811A>G
c.4350A>G (p.Arg1450=)
c.321A>G (p.Arg107=)
c.36A>G (p.Arg12=)
n.36A>G
n.48-2152T>C
c.4245A>G (p.Arg1415=)
c.3111A>G (p.Arg1037=)
n.4488A>G
2g.227307807A>TCA431508899COL4A3,MFF-DTn.1608A>T
n.811A>T
c.4350A>T (p.Arg1450=)
c.321A>T (p.Arg107=)
c.36A>T (p.Arg12=)
n.36A>T
n.48-2152T>A
c.4245A>T (p.Arg1415=)
c.3111A>T (p.Arg1037=)
n.4488A>T
2g.227307808C>ACA350864301COL4A3,MFF-DTn.1609C>A
n.812C>A
c.4351C>A (p.His1451Asn)
c.322C>A (p.His108Asn)
c.37C>A (p.His13Asn)
n.37C>A
n.48-2153G>T
c.4246C>A (p.His1416Asn)
c.3112C>A (p.His1038Asn)
n.4489C>A
2g.227307808C=CA1332861441COL4A3,MFF-DTn.1609C=
n.812C=
c.4351C= (p.His1451=)
c.322C= (p.His108=)
c.37C= (p.His13=)
n.37C=
n.48-2153G=
c.4246C= (p.His1416=)
c.3112C= (p.His1038=)
n.4489C=
2g.227307808C>GCA350864302COL4A3,MFF-DTn.1609C>G
n.812C>G
c.4351C>G (p.His1451Asp)
c.322C>G (p.His108Asp)
c.37C>G (p.His13Asp)
n.37C>G
n.48-2153G>C
c.4246C>G (p.His1416Asp)
c.3112C>G (p.His1038Asp)
n.4489C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227307808C>TCA350864303COL4A3,MFF-DTn.1609C>T
n.812C>T
c.4351C>T (p.His1451Tyr)
c.322C>T (p.His108Tyr)
c.37C>T (p.His13Tyr)
n.37C>T
n.48-2153G>A
c.4246C>T (p.His1416Tyr)
c.3112C>T (p.His1038Tyr)
n.4489C>T
2g.227307809A>CCA350864304COL4A3,MFF-DTn.1610A>C
n.813A>C
c.4352A>C (p.His1451Pro)
c.323A>C (p.His108Pro)
c.38A>C (p.His13Pro)
n.38A>C
n.48-2154T>G
c.4247A>C (p.His1416Pro)
c.3113A>C (p.His1038Pro)
n.4490A>C
2g.227307809A>GCA350864305COL4A3,MFF-DTn.1610A>G
n.813A>G
c.4352A>G (p.His1451Arg)
c.323A>G (p.His108Arg)
c.38A>G (p.His13Arg)
n.38A>G
n.48-2154T>C
c.4247A>G (p.His1416Arg)
c.3113A>G (p.His1038Arg)
n.4490A>G
2g.227307809A>TCA350864306COL4A3,MFF-DTn.1610A>T
n.813A>T
c.4352A>T (p.His1451Leu)
c.323A>T (p.His108Leu)
c.38A>T (p.His13Leu)
n.38A>T
n.48-2154T>A
c.4247A>T (p.His1416Leu)
c.3113A>T (p.His1038Leu)
n.4490A>T
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

Number of alleles fetched