Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.227280395G=CA1332849656COL4A3,MFF-DTc.2224-45G= (n.2224-45G=)
n.330-820C=
c.2119-45G= (n.2119-45G=)
c.985-45G= (n.985-45G=)
n.2362-45G=
2g.227280395G>TCA2146897COL4A3,MFF-DTc.2224-45G>T (n.2224-45G>T)
n.330-820C>A
c.2119-45G>T (n.2119-45G>T)
c.985-45G>T (n.985-45G>T)
n.2362-45G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280398T>CCA539900319COL4A3,MFF-DTc.2224-42T>C (n.2224-42T>C)
n.330-823A>G
c.2119-42T>C (n.2119-42T>C)
c.985-42T>C (n.985-42T>C)
n.2362-42T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227280398T>GCA1332849658COL4A3,MFF-DTc.2224-42T>G (n.2224-42T>G)
n.330-823A>C
c.2119-42T>G (n.2119-42T>G)
c.985-42T>G (n.985-42T>G)
n.2362-42T>G
 dbSNP gnomAD v4
2g.227280398T=CA1332849657COL4A3,MFF-DTc.2224-42T= (n.2224-42T=)
n.330-823A=
c.2119-42T= (n.2119-42T=)
c.985-42T= (n.985-42T=)
n.2362-42T=
2g.227280400G>ACA1332849660COL4A3,MFF-DTc.2224-40G>A (n.2224-40G>A)
n.330-825C>T
c.2119-40G>A (n.2119-40G>A)
c.985-40G>A (n.985-40G>A)
n.2362-40G>A
 dbSNP
2g.227280400G=CA1332849659COL4A3,MFF-DTc.2224-40G= (n.2224-40G=)
n.330-825C=
c.2119-40G= (n.2119-40G=)
c.985-40G= (n.985-40G=)
n.2362-40G=
2g.227280401G=CA1332849661COL4A3,MFF-DTc.2224-39G= (n.2224-39G=)
n.330-826C=
c.2119-39G= (n.2119-39G=)
c.985-39G= (n.985-39G=)
n.2362-39G=
2g.227280401G>TCA66598588COL4A3,MFF-DTc.2224-39G>T (n.2224-39G>T)
n.330-826C>A
c.2119-39G>T (n.2119-39G>T)
c.985-39G>T (n.985-39G>T)
n.2362-39G>T
 dbSNP
2g.227280404G>ACA539900320COL4A3,MFF-DTc.2224-36G>A (n.2224-36G>A)
n.330-829C>T
c.2119-36G>A (n.2119-36G>A)
c.985-36G>A (n.985-36G>A)
n.2362-36G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280404G>CCA2663423921COL4A3,MFF-DTc.2224-36G>C (n.2224-36G>C)
n.330-829C>G
c.2119-36G>C (n.2119-36G>C)
c.985-36G>C (n.985-36G>C)
n.2362-36G>C
 gnomAD v4
2g.227280404G=CA1332849662COL4A3,MFF-DTc.2224-36G= (n.2224-36G=)
n.330-829C=
c.2119-36G= (n.2119-36G=)
c.985-36G= (n.985-36G=)
n.2362-36G=
2g.227280405C>ACA2754514462COL4A3,MFF-DTc.2224-35C>A (n.2224-35C>A)
n.330-830G>T
c.2119-35C>A (n.2119-35C>A)
c.985-35C>A (n.985-35C>A)
n.2362-35C>A
2g.227280405C>TCA2754514461COL4A3,MFF-DTc.2224-35C>T (n.2224-35C>T)
n.330-830G>A
c.2119-35C>T (n.2119-35C>T)
c.985-35C>T (n.985-35C>T)
n.2362-35C>T
2g.227280406A=CA1332849663COL4A3,MFF-DTc.2224-34A= (n.2224-34A=)
n.330-831T=
c.2119-34A= (n.2119-34A=)
c.985-34A= (n.985-34A=)
n.2362-34A=
2g.227280406A>GCA66598597COL4A3,MFF-DTc.2224-34A>G (n.2224-34A>G)
n.330-831T>C
c.2119-34A>G (n.2119-34A>G)
c.985-34A>G (n.985-34A>G)
n.2362-34A>G
 dbSNP
2g.227280407C=CA1332849664COL4A3,MFF-DTc.2224-33C= (n.2224-33C=)
n.330-832G=
c.2119-33C= (n.2119-33C=)
c.985-33C= (n.985-33C=)
n.2362-33C=
2g.227280407C>GCA2146898COL4A3,MFF-DTc.2224-33C>G (n.2224-33C>G)
n.330-832G>C
c.2119-33C>G (n.2119-33C>G)
c.985-33C>G (n.985-33C>G)
n.2362-33C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280407C>TCA1332849665COL4A3,MFF-DTc.2224-33C>T (n.2224-33C>T)
n.330-832G>A
c.2119-33C>T (n.2119-33C>T)
c.985-33C>T (n.985-33C>T)
n.2362-33C>T
 dbSNP gnomAD v4
2g.227280409A=CA1332849666COL4A3,MFF-DTc.2224-31A= (n.2224-31A=)
n.330-834T=
c.2119-31A= (n.2119-31A=)
c.985-31A= (n.985-31A=)
n.2362-31A=
2g.227280409A>GCA2146899COL4A3,MFF-DTc.2224-31A>G (n.2224-31A>G)
n.330-834T>C
c.2119-31A>G (n.2119-31A>G)
c.985-31A>G (n.985-31A>G)
n.2362-31A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280410T>ACA2146900COL4A3,MFF-DTc.2224-30T>A (n.2224-30T>A)
n.330-835A>T
c.2119-30T>A (n.2119-30T>A)
c.985-30T>A (n.985-30T>A)
n.2362-30T>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280410T>CCA1043061688COL4A3,MFF-DTc.2224-30T>C (n.2224-30T>C)
n.330-835A>G
c.2119-30T>C (n.2119-30T>C)
c.985-30T>C (n.985-30T>C)
n.2362-30T>C
 dbSNP gnomAD v3 gnomAD v4
2g.227280410T=CA1332849667COL4A3,MFF-DTc.2224-30T= (n.2224-30T=)
n.330-835A=
c.2119-30T= (n.2119-30T=)
c.985-30T= (n.985-30T=)
n.2362-30T=
2g.227280411A=CA1332849668COL4A3,MFF-DTc.2224-29A= (n.2224-29A=)
n.330-836T=
c.2119-29A= (n.2119-29A=)
c.985-29A= (n.985-29A=)
n.2362-29A=
2g.227280411A>GCA2146901COL4A3,MFF-DTc.2224-29A>G (n.2224-29A>G)
n.330-836T>C
c.2119-29A>G (n.2119-29A>G)
c.985-29A>G (n.985-29A>G)
n.2362-29A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280412T>CCA539900321COL4A3,MFF-DTc.2224-28T>C (n.2224-28T>C)
n.330-837A>G
c.2119-28T>C (n.2119-28T>C)
c.985-28T>C (n.985-28T>C)
n.2362-28T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280412T=CA1332849669COL4A3,MFF-DTc.2224-28T= (n.2224-28T=)
n.330-837A=
c.2119-28T= (n.2119-28T=)
c.985-28T= (n.985-28T=)
n.2362-28T=
2g.227280413A=CA1332849670COL4A3,MFF-DTc.2224-27A= (n.2224-27A=)
n.330-838T=
c.2119-27A= (n.2119-27A=)
c.985-27A= (n.985-27A=)
n.2362-27A=
2g.227280413A>GCA2146902COL4A3,MFF-DTc.2224-27A>G (n.2224-27A>G)
n.330-838T>C
c.2119-27A>G (n.2119-27A>G)
c.985-27A>G (n.985-27A>G)
n.2362-27A>G
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.227280413A>TCA1043061691COL4A3,MFF-DTc.2224-27A>T (n.2224-27A>T)
n.330-838T>A
c.2119-27A>T (n.2119-27A>T)
c.985-27A>T (n.985-27A>T)
n.2362-27A>T
 dbSNP gnomAD v3 gnomAD v4
2g.227280415T>GCA2146903COL4A3,MFF-DTc.2224-25T>G (n.2224-25T>G)
n.330-840A>C
c.2119-25T>G (n.2119-25T>G)
c.985-25T>G (n.985-25T>G)
n.2362-25T>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280415T=CA1332849671COL4A3,MFF-DTc.2224-25T= (n.2224-25T=)
n.330-840A=
c.2119-25T= (n.2119-25T=)
c.985-25T= (n.985-25T=)
n.2362-25T=
2g.227280419A>GCA2663423944COL4A3,MFF-DTc.2224-21A>G (n.2224-21A>G)
n.330-844T>C
c.2119-21A>G (n.2119-21A>G)
c.985-21A>G (n.985-21A>G)
n.2362-21A>G
 gnomAD v4
2g.227280422A=CA1332849672COL4A3,MFF-DTc.2224-18A= (n.2224-18A=)
n.330-847T=
c.2119-18A= (n.2119-18A=)
c.985-18A= (n.985-18A=)
n.2362-18A=
2g.227280422A>GCA539900323COL4A3,MFF-DTc.2224-18A>G (n.2224-18A>G)
n.330-847T>C
c.2119-18A>G (n.2119-18A>G)
c.985-18A>G (n.985-18A>G)
n.2362-18A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.227280423C>TCA2577265099COL4A3,MFF-DTc.2224-17C>T (n.2224-17C>T)
n.330-848G>A
c.2119-17C>T (n.2119-17C>T)
c.985-17C>T (n.985-17C>T)
n.2362-17C>T
2g.227280424A=CA1332849673COL4A3,MFF-DTc.2224-16A= (n.2224-16A=)
n.330-849T=
c.2119-16A= (n.2119-16A=)
c.985-16A= (n.985-16A=)
n.2362-16A=
2g.227280424A>GCA1043061693COL4A3,MFF-DTc.2224-16A>G (n.2224-16A>G)
n.330-849T>C
c.2119-16A>G (n.2119-16A>G)
c.985-16A>G (n.985-16A>G)
n.2362-16A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
2g.227280425A=CA1332849674COL4A3,MFF-DTc.2224-15A= (n.2224-15A=)
n.330-850T=
c.2119-15A= (n.2119-15A=)
c.985-15A= (n.985-15A=)
n.2362-15A=
2g.227280425A>GCA1332849675COL4A3,MFF-DTc.2224-15A>G (n.2224-15A>G)
n.330-850T>C
c.2119-15A>G (n.2119-15A>G)
c.985-15A>G (n.985-15A>G)
n.2362-15A>G
 dbSNP
2g.227280425A>TCA539900325COL4A3,MFF-DTc.2224-15A>T (n.2224-15A>T)
n.330-850T>A
c.2119-15A>T (n.2119-15A>T)
c.985-15A>T (n.985-15A>T)
n.2362-15A>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280426T>CCA539900327COL4A3,MFF-DTc.2224-14T>C (n.2224-14T>C)
n.330-851A>G
c.2119-14T>C (n.2119-14T>C)
c.985-14T>C (n.985-14T>C)
n.2362-14T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227280426T=CA1332849676COL4A3,MFF-DTc.2224-14T= (n.2224-14T=)
n.330-851A=
c.2119-14T= (n.2119-14T=)
c.985-14T= (n.985-14T=)
n.2362-14T=
2g.227280427T>ACA1332849678COL4A3,MFF-DTc.2224-13T>A (n.2224-13T>A)
n.330-852A>T
c.2119-13T>A (n.2119-13T>A)
c.985-13T>A (n.985-13T>A)
n.2362-13T>A
 ClinVar dbSNP gnomAD v4
2g.227280427T>CCA2663418665COL4A3,MFF-DTc.2224-13T>C (n.2224-13T>C)
n.330-852A>G
c.2119-13T>C (n.2119-13T>C)
c.985-13T>C (n.985-13T>C)
n.2362-13T>C
 gnomAD v4
2g.227280427T=CA1332849677COL4A3,MFF-DTc.2224-13T= (n.2224-13T=)
n.330-852A=
c.2119-13T= (n.2119-13T=)
c.985-13T= (n.985-13T=)
n.2362-13T=
2g.227280429C>ACA2577265100COL4A3,MFF-DTc.2224-11C>A (n.2224-11C>A)
n.330-854G>T
c.2119-11C>A (n.2119-11C>A)
c.985-11C>A (n.985-11C>A)
n.2362-11C>A
 ClinVar gnomAD v4
2g.227280429C=CA1332849680COL4A3,MFF-DTc.2224-11C= (n.2224-11C=)
n.330-854G=
c.2119-11C= (n.2119-11C=)
c.985-11C= (n.985-11C=)
n.2362-11C=
2g.227280429C>TCA1332849679COL4A3,MFF-DTc.2224-11C>T (n.2224-11C>T)
n.330-854G>A
c.2119-11C>T (n.2119-11C>T)
c.985-11C>T (n.985-11C>T)
n.2362-11C>T
 dbSNP
2g.227280430T>CCA2697550537COL4A3,MFF-DTc.2224-10T>C (n.2224-10T>C)
n.330-855A>G
c.2119-10T>C (n.2119-10T>C)
c.985-10T>C (n.985-10T>C)
n.2362-10T>C
 ClinVar
2g.227280431A=CA1332849681COL4A3,MFF-DTc.2224-9A= (n.2224-9A=)
n.330-856T=
c.2119-9A= (n.2119-9A=)
c.985-9A= (n.985-9A=)
n.2362-9A=
2g.227280431A>GCA2146904COL4A3,MFF-DTc.2224-9A>G (n.2224-9A>G)
n.330-856T>C
c.2119-9A>G (n.2119-9A>G)
c.985-9A>G (n.985-9A>G)
n.2362-9A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280432T>CCA2577265101COL4A3,MFF-DTc.2224-8T>C (n.2224-8T>C)
n.330-857A>G
c.2119-8T>C (n.2119-8T>C)
c.985-8T>C (n.985-8T>C)
n.2362-8T>C
2g.227280433G>ACA2573135516COL4A3,MFF-DTc.2224-7G>A (n.2224-7G>A)
n.330-858C>T
c.2119-7G>A (n.2119-7G>A)
c.985-7G>A (n.985-7G>A)
n.2362-7G>A
 ClinVar dbSNP
2g.227280434C=CA1332849682COL4A3,MFF-DTc.2224-6C= (n.2224-6C=)
n.330-859G=
c.2119-6C= (n.2119-6C=)
c.985-6C= (n.985-6C=)
n.2362-6C=
2g.227280434C>GCA539900328COL4A3,MFF-DTc.2224-6C>G (n.2224-6C>G)
n.330-859G>C
c.2119-6C>G (n.2119-6C>G)
c.985-6C>G (n.985-6C>G)
n.2362-6C>G
 dbSNP gnomAD v2 gnomAD v4
2g.227280434C>TCA1043061696COL4A3,MFF-DTc.2224-6C>T (n.2224-6C>T)
n.330-859G>A
c.2119-6C>T (n.2119-6C>T)
c.985-6C>T (n.985-6C>T)
n.2362-6C>T
 dbSNP gnomAD v3 gnomAD v4
2g.227280435T>CCA2577265102COL4A3,MFF-DTc.2224-5T>C (n.2224-5T>C)
n.330-860A>G
c.2119-5T>C (n.2119-5T>C)
c.985-5T>C (n.985-5T>C)
n.2362-5T>C
2g.227280436G>ACA2701744180COL4A3,MFF-DTc.2224-4G>A (n.2224-4G>A)
n.330-861C>T
c.2119-4G>A (n.2119-4G>A)
c.985-4G>A (n.985-4G>A)
n.2362-4G>A
 dbSNP
2g.227280438A=CA1332849683COL4A3,MFF-DTc.2224-2A= (n.2224-2A=)
n.330-863T=
c.2119-2A= (n.2119-2A=)
c.985-2A= (n.985-2A=)
n.2362-2A=
2g.227280438A>CCA350848886COL4A3,MFF-DTc.2224-2A>C (n.2224-2A>C)
n.330-863T>G
c.2119-2A>C (n.2119-2A>C)
c.985-2A>C (n.985-2A>C)
n.2362-2A>C
 dbSNP
2g.227280438A>GCA350848884COL4A3,MFF-DTc.2224-2A>G (n.2224-2A>G)
n.330-863T>C
c.2119-2A>G (n.2119-2A>G)
c.985-2A>G (n.985-2A>G)
n.2362-2A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280438A>TCA350848882COL4A3,MFF-DTc.2224-2A>T (n.2224-2A>T)
n.330-863T>A
c.2119-2A>T (n.2119-2A>T)
c.985-2A>T (n.985-2A>T)
n.2362-2A>T
2g.227280439G>ACA2146905COL4A3,MFF-DTc.2224-1G>A (n.2224-1G>A)
n.330-864C>T
c.2119-1G>A (n.2119-1G>A)
c.985-1G>A (n.985-1G>A)
n.2362-1G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280439G>CCA350848887COL4A3,MFF-DTc.2224-1G>C (n.2224-1G>C)
n.330-864C>G
c.2119-1G>C (n.2119-1G>C)
c.985-1G>C (n.985-1G>C)
n.2362-1G>C
2g.227280439G=CA1332849684COL4A3,MFF-DTc.2224-1G= (n.2224-1G=)
n.330-864C=
c.2119-1G= (n.2119-1G=)
c.985-1G= (n.985-1G=)
n.2362-1G=
2g.227280439G>TCA350848888COL4A3,MFF-DTc.2224-1G>T (n.2224-1G>T)
n.330-864C>A
c.2119-1G>T (n.2119-1G>T)
c.985-1G>T (n.985-1G>T)
n.2362-1G>T
 gnomAD v4
2g.227280441delCA2573135517COL4A3,MFF-DTc.2225del
n.330-864del
c.2120del
c.986del
n.2363del
 ClinVar dbSNP
2g.227280440G>ACA350848890COL4A3,MFF-DTc.2224G>A (p.Gly742Arg)
n.330-865C>T
c.2119G>A (p.Gly707Arg)
c.985G>A (p.Gly329Arg)
n.2362G>A
2g.227280440G>CCA350848891COL4A3,MFF-DTc.2224G>C (p.Gly742Arg)
n.330-865C>G
c.2119G>C (p.Gly707Arg)
c.985G>C (p.Gly329Arg)
n.2362G>C
2g.227280440G>TCA350848893COL4A3,MFF-DTc.2224G>T (p.Gly742Ter)
n.330-865C>A
c.2119G>T (p.Gly707Ter)
c.985G>T (p.Gly329Ter)
n.2362G>T
2g.227280441G>ACA350848895COL4A3,MFF-DTc.2225G>A (p.Gly742Glu)
n.330-866C>T
c.2120G>A (p.Gly707Glu)
c.986G>A (p.Gly329Glu)
n.2363G>A
 ClinVar
2g.227280441G>CCA350848896COL4A3,MFF-DTc.2225G>C (p.Gly742Ala)
n.330-866C>G
c.2120G>C (p.Gly707Ala)
c.986G>C (p.Gly329Ala)
n.2363G>C
2g.227280441G>TCA350848898COL4A3,MFF-DTc.2225G>T (p.Gly742Val)
n.330-866C>A
c.2120G>T (p.Gly707Val)
c.986G>T (p.Gly329Val)
n.2363G>T
2g.227280442A>CCA431501701COL4A3,MFF-DTc.2226A>C (p.Gly742=)
n.330-867T>G
c.2121A>C (p.Gly707=)
c.987A>C (p.Gly329=)
n.2364A>C
2g.227280442A>GCA431501702COL4A3,MFF-DTc.2226A>G (p.Gly742=)
n.330-867T>C
c.2121A>G (p.Gly707=)
c.987A>G (p.Gly329=)
n.2364A>G
 gnomAD v4
2g.227280442A>TCA431501703COL4A3,MFF-DTc.2226A>T (p.Gly742=)
n.330-867T>A
c.2121A>T (p.Gly707=)
c.987A>T (p.Gly329=)
n.2364A>T
2g.227280443G>ACA350848899COL4A3,MFF-DTc.2227G>A (p.Glu743Lys)
n.330-868C>T
c.2122G>A (p.Glu708Lys)
c.988G>A (p.Glu330Lys)
n.2365G>A
2g.227280443G>CCA350848900COL4A3,MFF-DTc.2227G>C (p.Glu743Gln)
n.330-868C>G
c.2122G>C (p.Glu708Gln)
c.988G>C (p.Glu330Gln)
n.2365G>C
2g.227280443G>TCA350848901COL4A3,MFF-DTc.2227G>T (p.Glu743Ter)
n.330-868C>A
c.2122G>T (p.Glu708Ter)
c.988G>T (p.Glu330Ter)
n.2365G>T
2g.227280444A>CCA350848904COL4A3,MFF-DTc.2228A>C (p.Glu743Ala)
n.330-869T>G
c.2123A>C (p.Glu708Ala)
c.989A>C (p.Glu330Ala)
n.2366A>C
2g.227280444A>GCA350848906COL4A3,MFF-DTc.2228A>G (p.Glu743Gly)
n.330-869T>C
c.2123A>G (p.Glu708Gly)
c.989A>G (p.Glu330Gly)
n.2366A>G
2g.227280444A>TCA350848902COL4A3,MFF-DTc.2228A>T (p.Glu743Val)
n.330-869T>A
c.2123A>T (p.Glu708Val)
c.989A>T (p.Glu330Val)
n.2366A>T
2g.227280445A=CA1332849685COL4A3,MFF-DTc.2229A= (p.Glu743=)
n.330-870T=
c.2124A= (p.Glu708=)
c.990A= (p.Glu330=)
n.2367A=
2g.227280445A>CCA350848908COL4A3,MFF-DTc.2229A>C (p.Glu743Asp)
n.330-870T>G
c.2124A>C (p.Glu708Asp)
c.990A>C (p.Glu330Asp)
n.2367A>C
 dbSNP
2g.227280445A>GCA431501704COL4A3,MFF-DTc.2229A>G (p.Glu743=)
n.330-870T>C
c.2124A>G (p.Glu708=)
c.990A>G (p.Glu330=)
n.2367A>G
2g.227280445A>TCA350848909COL4A3,MFF-DTc.2229A>T (p.Glu743Asp)
n.330-870T>A
c.2124A>T (p.Glu708Asp)
c.990A>T (p.Glu330Asp)
n.2367A>T
2g.227280446C>ACA350848910COL4A3,MFF-DTc.2230C>A (p.Pro744Thr)
n.330-871G>T
c.2125C>A (p.Pro709Thr)
c.991C>A (p.Pro331Thr)
n.2368C>A
 dbSNP gnomAD v2 gnomAD v4
2g.227280446C=CA1332849686COL4A3,MFF-DTc.2230C= (p.Pro744=)
n.330-871G=
c.2125C= (p.Pro709=)
c.991C= (p.Pro331=)
n.2368C=
2g.227280446C>GCA350848912COL4A3,MFF-DTc.2230C>G (p.Pro744Ala)
n.330-871G>C
c.2125C>G (p.Pro709Ala)
c.991C>G (p.Pro331Ala)
n.2368C>G
2g.227280446C>TCA350848914COL4A3,MFF-DTc.2230C>T (p.Pro744Ser)
n.330-871G>A
c.2125C>T (p.Pro709Ser)
c.991C>T (p.Pro331Ser)
n.2368C>T
2g.227280447C>ACA350848919COL4A3,MFF-DTc.2231C>A (p.Pro744Gln)
n.330-872G>T
c.2126C>A (p.Pro709Gln)
c.992C>A (p.Pro331Gln)
n.2369C>A
2g.227280447C=CA1332849687COL4A3,MFF-DTc.2231C= (p.Pro744=)
n.330-872G=
c.2126C= (p.Pro709=)
c.992C= (p.Pro331=)
n.2369C=
2g.227280447C>GCA350848918COL4A3,MFF-DTc.2231C>G (p.Pro744Arg)
n.330-872G>C
c.2126C>G (p.Pro709Arg)
c.992C>G (p.Pro331Arg)
n.2369C>G
2g.227280447C>TCA350848916COL4A3,MFF-DTc.2231C>T (p.Pro744Leu)
n.330-872G>A
c.2126C>T (p.Pro709Leu)
c.992C>T (p.Pro331Leu)
n.2369C>T
 dbSNP gnomAD v2 gnomAD v4
2g.227280448A>CCA431501705COL4A3,MFF-DTc.2232A>C (p.Pro744=)
n.330-873T>G
c.2127A>C (p.Pro709=)
c.993A>C (p.Pro331=)
n.2370A>C
2g.227280448A>GCA431501706COL4A3,MFF-DTc.2232A>G (p.Pro744=)
n.330-873T>C
c.2127A>G (p.Pro709=)
c.993A>G (p.Pro331=)
n.2370A>G
2g.227280448A>TCA431501707COL4A3,MFF-DTc.2232A>T (p.Pro744=)
n.330-873T>A
c.2127A>T (p.Pro709=)
c.993A>T (p.Pro331=)
n.2370A>T
2g.227280449G>ACA350848920COL4A3,MFF-DTc.2233G>A (p.Ala745Thr)
n.330-874C>T
c.2128G>A (p.Ala710Thr)
c.994G>A (p.Ala332Thr)
n.2371G>A
2g.227280449G>CCA350848921COL4A3,MFF-DTc.2233G>C (p.Ala745Pro)
n.330-874C>G
c.2128G>C (p.Ala710Pro)
c.994G>C (p.Ala332Pro)
n.2371G>C
2g.227280449G>TCA350848922COL4A3,MFF-DTc.2233G>T (p.Ala745Ser)
n.330-874C>A
c.2128G>T (p.Ala710Ser)
c.994G>T (p.Ala332Ser)
n.2371G>T
2g.227280450C>ACA350848923COL4A3,MFF-DTc.2234C>A (p.Ala745Glu)
n.330-875G>T
c.2129C>A (p.Ala710Glu)
c.995C>A (p.Ala332Glu)
n.2372C>A
2g.227280450C>GCA350848925COL4A3,MFF-DTc.2234C>G (p.Ala745Gly)
n.330-875G>C
c.2129C>G (p.Ala710Gly)
c.995C>G (p.Ala332Gly)
n.2372C>G
2g.227280450C>TCA350848927COL4A3,MFF-DTc.2234C>T (p.Ala745Val)
n.330-875G>A
c.2129C>T (p.Ala710Val)
c.995C>T (p.Ala332Val)
n.2372C>T
2g.227280451A>CCA431501710COL4A3,MFF-DTc.2235A>C (p.Ala745=)
n.330-876T>G
c.2130A>C (p.Ala710=)
c.996A>C (p.Ala332=)
n.2373A>C
2g.227280451A>GCA431501708COL4A3,MFF-DTc.2235A>G (p.Ala745=)
n.330-876T>C
c.2130A>G (p.Ala710=)
c.996A>G (p.Ala332=)
n.2373A>G
2g.227280451A>TCA431501709COL4A3,MFF-DTc.2235A>T (p.Ala745=)
n.330-876T>A
c.2130A>T (p.Ala710=)
c.996A>T (p.Ala332=)
n.2373A>T
2g.227280452G>ACA350848929COL4A3,MFF-DTc.2236G>A (p.Val746Ile)
n.330-877C>T
c.2131G>A (p.Val711Ile)
c.997G>A (p.Val333Ile)
n.2374G>A
2g.227280452G>CCA350848933COL4A3,MFF-DTc.2236G>C (p.Val746Leu)
n.330-877C>G
c.2131G>C (p.Val711Leu)
c.997G>C (p.Val333Leu)
n.2374G>C
2g.227280452G>TCA350848930COL4A3,MFF-DTc.2236G>T (p.Val746Leu)
n.330-877C>A
c.2131G>T (p.Val711Leu)
c.997G>T (p.Val333Leu)
n.2374G>T
2g.227280453T>ACA350848934COL4A3,MFF-DTc.2237T>A (p.Val746Glu)
n.330-878A>T
c.2132T>A (p.Val711Glu)
c.998T>A (p.Val333Glu)
n.2375T>A
2g.227280453T>CCA66598648COL4A3,MFF-DTc.2237T>C (p.Val746Ala)
n.330-878A>G
c.2132T>C (p.Val711Ala)
c.998T>C (p.Val333Ala)
n.2375T>C
 dbSNP gnomAD v3 gnomAD v4
2g.227280453T>GCA350848937COL4A3,MFF-DTc.2237T>G (p.Val746Gly)
n.330-878A>C
c.2132T>G (p.Val711Gly)
c.998T>G (p.Val333Gly)
n.2375T>G
2g.227280453T=CA1332849688COL4A3,MFF-DTc.2237T= (p.Val746=)
n.330-878A=
c.2132T= (p.Val711=)
c.998T= (p.Val333=)
n.2375T=
2g.227280454A>CCA431501711COL4A3,MFF-DTc.2238A>C (p.Val746=)
n.330-879T>G
c.2133A>C (p.Val711=)
c.999A>C (p.Val333=)
n.2376A>C
2g.227280454A>GCA431501712COL4A3,MFF-DTc.2238A>G (p.Val746=)
n.330-879T>C
c.2133A>G (p.Val711=)
c.999A>G (p.Val333=)
n.2376A>G
2g.227280454A>TCA431501713COL4A3,MFF-DTc.2238A>T (p.Val746=)
n.330-879T>A
c.2133A>T (p.Val711=)
c.999A>T (p.Val333=)
n.2376A>T
2g.227280455G>ACA350848939COL4A3,MFF-DTc.2239G>A (p.Ala747Thr)
n.330-880C>T
c.2134G>A (p.Ala712Thr)
c.1000G>A (p.Ala334Thr)
n.2377G>A
2g.227280455G>CCA350848940COL4A3,MFF-DTc.2239G>C (p.Ala747Pro)
n.330-880C>G
c.2134G>C (p.Ala712Pro)
c.1000G>C (p.Ala334Pro)
n.2377G>C
2g.227280455G>TCA350848941COL4A3,MFF-DTc.2239G>T (p.Ala747Ser)
n.330-880C>A
c.2134G>T (p.Ala712Ser)
c.1000G>T (p.Ala334Ser)
n.2377G>T
2g.227280456C>ACA350848942COL4A3,MFF-DTc.2240C>A (p.Ala747Asp)
n.330-881G>T
c.2135C>A (p.Ala712Asp)
c.1001C>A (p.Ala334Asp)
n.2378C>A
2g.227280456C>GCA350848943COL4A3,MFF-DTc.2240C>G (p.Ala747Gly)
n.330-881G>C
c.2135C>G (p.Ala712Gly)
c.1001C>G (p.Ala334Gly)
n.2378C>G
 gnomAD v4
2g.227280456C>TCA350848944COL4A3,MFF-DTc.2240C>T (p.Ala747Val)
n.330-881G>A
c.2135C>T (p.Ala712Val)
c.1001C>T (p.Ala334Val)
n.2378C>T
 gnomAD v4 COSMIC COSMIC
2g.227280457C>ACA431501716COL4A3,MFF-DTc.2241C>A (p.Ala747=)
n.330-882G>T
c.2136C>A (p.Ala712=)
c.1002C>A (p.Ala334=)
n.2379C>A
2g.227280457C>GCA431501714COL4A3,MFF-DTc.2241C>G (p.Ala747=)
n.330-882G>C
c.2136C>G (p.Ala712=)
c.1002C>G (p.Ala334=)
n.2379C>G
2g.227280457C>TCA431501715COL4A3,MFF-DTc.2241C>T (p.Ala747=)
n.330-882G>A
c.2136C>T (p.Ala712=)
c.1002C>T (p.Ala334=)
n.2379C>T
2g.227280458A>CCA350848945COL4A3,MFF-DTc.2242A>C (p.Met748Leu)
n.330-883T>G
c.2137A>C (p.Met713Leu)
c.1003A>C (p.Met335Leu)
n.2380A>C
2g.227280458A>GCA350848946COL4A3,MFF-DTc.2242A>G (p.Met748Val)
n.330-883T>C
c.2137A>G (p.Met713Val)
c.1003A>G (p.Met335Val)
n.2380A>G
2g.227280458A>TCA350848948COL4A3,MFF-DTc.2242A>T (p.Met748Leu)
n.330-883T>A
c.2137A>T (p.Met713Leu)
c.1003A>T (p.Met335Leu)
n.2380A>T
2g.227280459T>ACA350848950COL4A3,MFF-DTc.2243T>A (p.Met748Lys)
n.330-884A>T
c.2138T>A (p.Met713Lys)
c.1004T>A (p.Met335Lys)
n.2381T>A
2g.227280459T>CCA350848952COL4A3,MFF-DTc.2243T>C (p.Met748Thr)
n.330-884A>G
c.2138T>C (p.Met713Thr)
c.1004T>C (p.Met335Thr)
n.2381T>C
 dbSNP gnomAD v2 gnomAD v4
2g.227280459T>GCA350848949COL4A3,MFF-DTc.2243T>G (p.Met748Arg)
n.330-884A>C
c.2138T>G (p.Met713Arg)
c.1004T>G (p.Met335Arg)
n.2381T>G
2g.227280459T=CA1332849689COL4A3,MFF-DTc.2243T= (p.Met748=)
n.330-884A=
c.2138T= (p.Met713=)
c.1004T= (p.Met335=)
n.2381T=
2g.227280460G>ACA2146906COL4A3,MFF-DTc.2244G>A (p.Met748Ile)
n.330-885C>T
c.2139G>A (p.Met713Ile)
c.1005G>A (p.Met335Ile)
n.2382G>A
 dbSNP ExAC gnomAD v4
2g.227280460G>CCA350848954COL4A3,MFF-DTc.2244G>C (p.Met748Ile)
n.330-885C>G
c.2139G>C (p.Met713Ile)
c.1005G>C (p.Met335Ile)
n.2382G>C
2g.227280460G=CA1332849690COL4A3,MFF-DTc.2244G= (p.Met748=)
n.330-885C=
c.2139G= (p.Met713=)
c.1005G= (p.Met335=)
n.2382G=
2g.227280460G>TCA350848956COL4A3,MFF-DTc.2244G>T (p.Met748Ile)
n.330-885C>A
c.2139G>T (p.Met713Ile)
c.1005G>T (p.Met335Ile)
n.2382G>T
 gnomAD v4
2g.227280461C>ACA350848960COL4A3,MFF-DTc.2245C>A (p.Pro749Thr)
n.330-886G>T
c.2140C>A (p.Pro714Thr)
c.1006C>A (p.Pro336Thr)
n.2383C>A
 gnomAD v4
2g.227280461C=CA1332849691COL4A3,MFF-DTc.2245C= (p.Pro749=)
n.330-886G=
c.2140C= (p.Pro714=)
c.1006C= (p.Pro336=)
n.2383C=
2g.227280461C>GCA350848961COL4A3,MFF-DTc.2245C>G (p.Pro749Ala)
n.330-886G>C
c.2140C>G (p.Pro714Ala)
c.1006C>G (p.Pro336Ala)
n.2383C>G
2g.227280461C>TCA350848963COL4A3,MFF-DTc.2245C>T (p.Pro749Ser)
n.330-886G>A
c.2140C>T (p.Pro714Ser)
c.1006C>T (p.Pro336Ser)
n.2383C>T
 dbSNP
2g.227280462C>ACA66598662COL4A3,MFF-DTc.2246C>A (p.Pro749His)
n.330-887G>T
c.2141C>A (p.Pro714His)
c.1007C>A (p.Pro336His)
n.2384C>A
 dbSNP gnomAD v4
2g.227280462C=CA1332849692COL4A3,MFF-DTc.2246C= (p.Pro749=)
n.330-887G=
c.2141C= (p.Pro714=)
c.1007C= (p.Pro336=)
n.2384C=
2g.227280462C>GCA350848968COL4A3,MFF-DTc.2246C>G (p.Pro749Arg)
n.330-887G>C
c.2141C>G (p.Pro714Arg)
c.1007C>G (p.Pro336Arg)
n.2384C>G
2g.227280462C>TCA350848966COL4A3,MFF-DTc.2246C>T (p.Pro749Leu)
n.330-887G>A
c.2141C>T (p.Pro714Leu)
c.1007C>T (p.Pro336Leu)
n.2384C>T
 gnomAD v4
2g.227280463T>ACA431501717COL4A3,MFF-DTc.2247T>A (p.Pro749=)
n.330-888A>T
c.2142T>A (p.Pro714=)
c.1008T>A (p.Pro336=)
n.2385T>A
2g.227280463T>CCA431501718COL4A3,MFF-DTc.2247T>C (p.Pro749=)
n.330-888A>G
c.2142T>C (p.Pro714=)
c.1008T>C (p.Pro336=)
n.2385T>C
2g.227280463T>GCA431501719COL4A3,MFF-DTc.2247T>G (p.Pro749=)
n.330-888A>C
c.2142T>G (p.Pro714=)
c.1008T>G (p.Pro336=)
n.2385T>G
2g.227280464G>ACA350848969COL4A3,MFF-DTc.2248G>A (p.Gly750Arg)
n.330-889C>T
c.2143G>A (p.Gly715Arg)
c.1009G>A (p.Gly337Arg)
n.2386G>A
 dbSNP gnomAD v4
2g.227280464G>CCA350848970COL4A3,MFF-DTc.2248G>C (p.Gly750Arg)
n.330-889C>G
c.2143G>C (p.Gly715Arg)
c.1009G>C (p.Gly337Arg)
n.2386G>C
2g.227280464G=CA1332849693COL4A3,MFF-DTc.2248G= (p.Gly750=)
n.330-889C=
c.2143G= (p.Gly715=)
c.1009G= (p.Gly337=)
n.2386G=
2g.227280464G>TCA350848971COL4A3,MFF-DTc.2248G>T (p.Gly750Ter)
n.330-889C>A
c.2143G>T (p.Gly715Ter)
c.1009G>T (p.Gly337Ter)
n.2386G>T
2g.227280465G>ACA350848973COL4A3,MFF-DTc.2249G>A (p.Gly750Glu)
n.330-890C>T
c.2144G>A (p.Gly715Glu)
c.1010G>A (p.Gly337Glu)
n.2387G>A
2g.227280465G>CCA350848975COL4A3,MFF-DTc.2249G>C (p.Gly750Ala)
n.330-890C>G
c.2144G>C (p.Gly715Ala)
c.1010G>C (p.Gly337Ala)
n.2387G>C
 gnomAD v4
2g.227280465G>TCA350848977COL4A3,MFF-DTc.2249G>T (p.Gly750Val)
n.330-890C>A
c.2144G>T (p.Gly715Val)
c.1010G>T (p.Gly337Val)
n.2387G>T
2g.227280466A>CCA431501720COL4A3,MFF-DTc.2250A>C (p.Gly750=)
n.330-891T>G
c.2145A>C (p.Gly715=)
c.1011A>C (p.Gly337=)
n.2388A>C
2g.227280466A>GCA431501721COL4A3,MFF-DTc.2250A>G (p.Gly750=)
n.330-891T>C
c.2145A>G (p.Gly715=)
c.1011A>G (p.Gly337=)
n.2388A>G
2g.227280466A>TCA431501722COL4A3,MFF-DTc.2250A>T (p.Gly750=)
n.330-891T>A
c.2145A>T (p.Gly715=)
c.1011A>T (p.Gly337=)
n.2388A>T
2g.227280467G>ACA350848990COL4A3,MFF-DTc.2251G>A (p.Gly751Arg)
n.330-892C>T
c.2146G>A (p.Gly716Arg)
c.1012G>A (p.Gly338Arg)
n.2389G>A
2g.227280467G>CCA350848986COL4A3,MFF-DTc.2251G>C (p.Gly751Arg)
n.330-892C>G
c.2146G>C (p.Gly716Arg)
c.1012G>C (p.Gly338Arg)
n.2389G>C
2g.227280467G>TCA350848987COL4A3,MFF-DTc.2251G>T (p.Gly751Ter)
n.330-892C>A
c.2146G>T (p.Gly716Ter)
c.1012G>T (p.Gly338Ter)
n.2389G>T
2g.227280468G>ACA350848991COL4A3,MFF-DTc.2252G>A (p.Gly751Glu)
n.330-893C>T
c.2147G>A (p.Gly716Glu)
c.1013G>A (p.Gly338Glu)
n.2390G>A
2g.227280468G>CCA350848992COL4A3,MFF-DTc.2252G>C (p.Gly751Ala)
n.330-893C>G
c.2147G>C (p.Gly716Ala)
c.1013G>C (p.Gly338Ala)
n.2390G>C
2g.227280468G>TCA350848993COL4A3,MFF-DTc.2252G>T (p.Gly751Val)
n.330-893C>A
c.2147G>T (p.Gly716Val)
c.1013G>T (p.Gly338Val)
n.2390G>T
2g.227280469A>CCA431501723COL4A3,MFF-DTc.2253A>C (p.Gly751=)
n.330-894T>G
c.2148A>C (p.Gly716=)
c.1014A>C (p.Gly338=)
n.2391A>C
2g.227280469A>GCA431501724COL4A3,MFF-DTc.2253A>G (p.Gly751=)
n.330-894T>C
c.2148A>G (p.Gly716=)
c.1014A>G (p.Gly338=)
n.2391A>G
 ClinVar gnomAD v4
2g.227280469A>TCA431501725COL4A3,MFF-DTc.2253A>T (p.Gly751=)
n.330-894T>A
c.2148A>T (p.Gly716=)
c.1014A>T (p.Gly338=)
n.2391A>T
2g.227280470C>ACA350848994COL4A3,MFF-DTc.2254C>A (p.Pro752Thr)
n.330-895G>T
c.2149C>A (p.Pro717Thr)
c.1015C>A (p.Pro339Thr)
n.2392C>A
 dbSNP gnomAD v3 gnomAD v4
2g.227280470C=CA1332849694COL4A3,MFF-DTc.2254C= (p.Pro752=)
n.330-895G=
c.2149C= (p.Pro717=)
c.1015C= (p.Pro339=)
n.2392C=
2g.227280470C>GCA350848996COL4A3,MFF-DTc.2254C>G (p.Pro752Ala)
n.330-895G>C
c.2149C>G (p.Pro717Ala)
c.1015C>G (p.Pro339Ala)
n.2392C>G
2g.227280470C>TCA350848998COL4A3,MFF-DTc.2254C>T (p.Pro752Ser)
n.330-895G>A
c.2149C>T (p.Pro717Ser)
c.1015C>T (p.Pro339Ser)
n.2392C>T
2g.227280471C>ACA350848999COL4A3,MFF-DTc.2255C>A (p.Pro752Gln)
n.330-896G>T
c.2150C>A (p.Pro717Gln)
c.1016C>A (p.Pro339Gln)
n.2393C>A
 gnomAD v4
2g.227280471C>GCA350849001COL4A3,MFF-DTc.2255C>G (p.Pro752Arg)
n.330-896G>C
c.2150C>G (p.Pro717Arg)
c.1016C>G (p.Pro339Arg)
n.2393C>G
2g.227280471C>TCA350849003COL4A3,MFF-DTc.2255C>T (p.Pro752Leu)
n.330-896G>A
c.2150C>T (p.Pro717Leu)
c.1016C>T (p.Pro339Leu)
n.2393C>T
2g.227280472A>CCA431501726COL4A3,MFF-DTc.2256A>C (p.Pro752=)
n.330-897T>G
c.2151A>C (p.Pro717=)
c.1017A>C (p.Pro339=)
n.2394A>C
2g.227280472A>GCA431501727COL4A3,MFF-DTc.2256A>G (p.Pro752=)
n.330-897T>C
c.2151A>G (p.Pro717=)
c.1017A>G (p.Pro339=)
n.2394A>G
2g.227280472A>TCA431501728COL4A3,MFF-DTc.2256A>T (p.Pro752=)
n.330-897T>A
c.2151A>T (p.Pro717=)
c.1017A>T (p.Pro339=)
n.2394A>T
2g.227280473G>ACA350849006COL4A3,MFF-DTc.2257G>A (p.Gly753Arg)
n.330-898C>T
c.2152G>A (p.Gly718Arg)
c.1018G>A (p.Gly340Arg)
n.2395G>A
2g.227280473G>CCA350849007COL4A3,MFF-DTc.2257G>C (p.Gly753Arg)
n.330-898C>G
c.2152G>C (p.Gly718Arg)
c.1018G>C (p.Gly340Arg)
n.2395G>C
2g.227280473G>TCA350849009COL4A3,MFF-DTc.2257G>T (p.Gly753Ter)
n.330-898C>A
c.2152G>T (p.Gly718Ter)
c.1018G>T (p.Gly340Ter)
n.2395G>T
2g.227280474G>ACA350849014COL4A3,MFF-DTc.2258G>A (p.Gly753Glu)
n.330-899C>T
c.2153G>A (p.Gly718Glu)
c.1019G>A (p.Gly340Glu)
n.2396G>A
2g.227280474G>CCA350849017COL4A3,MFF-DTc.2258G>C (p.Gly753Ala)
n.330-899C>G
c.2153G>C (p.Gly718Ala)
c.1019G>C (p.Gly340Ala)
n.2396G>C
2g.227280474G>TCA350849016COL4A3,MFF-DTc.2258G>T (p.Gly753Val)
n.330-899C>A
c.2153G>T (p.Gly718Val)
c.1019G>T (p.Gly340Val)
n.2396G>T
2g.227280475A>CCA431501729COL4A3,MFF-DTc.2259A>C (p.Gly753=)
n.330-900T>G
c.2154A>C (p.Gly718=)
c.1020A>C (p.Gly340=)
n.2397A>C
2g.227280475A>GCA431501730COL4A3,MFF-DTc.2259A>G (p.Gly753=)
n.330-900T>C
c.2154A>G (p.Gly718=)
c.1020A>G (p.Gly340=)
n.2397A>G
2g.227280475A>TCA431501731COL4A3,MFF-DTc.2259A>T (p.Gly753=)
n.330-900T>A
c.2154A>T (p.Gly718=)
c.1020A>T (p.Gly340=)
n.2397A>T
 gnomAD v4
2g.227280476A>CCA350849019COL4A3,MFF-DTc.2260A>C (p.Thr754Pro)
n.330-901T>G
c.2155A>C (p.Thr719Pro)
c.1021A>C (p.Thr341Pro)
n.2398A>C
2g.227280476A>GCA350849021COL4A3,MFF-DTc.2260A>G (p.Thr754Ala)
n.330-901T>C
c.2155A>G (p.Thr719Ala)
c.1021A>G (p.Thr341Ala)
n.2398A>G
2g.227280476A>TCA350849025COL4A3,MFF-DTc.2260A>T (p.Thr754Ser)
n.330-901T>A
c.2155A>T (p.Thr719Ser)
c.1021A>T (p.Thr341Ser)
n.2398A>T
2g.227280477C>ACA350849028COL4A3,MFF-DTc.2261C>A (p.Thr754Lys)
n.330-902G>T
c.2156C>A (p.Thr719Lys)
c.1022C>A (p.Thr341Lys)
n.2399C>A
2g.227280477C>GCA350849030COL4A3,MFF-DTc.2261C>G (p.Thr754Arg)
n.330-902G>C
c.2156C>G (p.Thr719Arg)
c.1022C>G (p.Thr341Arg)
n.2399C>G
2g.227280477C>TCA350849031COL4A3,MFF-DTc.2261C>T (p.Thr754Ile)
n.330-902G>A
c.2156C>T (p.Thr719Ile)
c.1022C>T (p.Thr341Ile)
n.2399C>T
 gnomAD v4
2g.227280478A>CCA431501732COL4A3,MFF-DTc.2262A>C (p.Thr754=)
n.330-903T>G
c.2157A>C (p.Thr719=)
c.1023A>C (p.Thr341=)
n.2400A>C
2g.227280478A>GCA431501734COL4A3,MFF-DTc.2262A>G (p.Thr754=)
n.330-903T>C
c.2157A>G (p.Thr719=)
c.1023A>G (p.Thr341=)
n.2400A>G
2g.227280478A>TCA431501733COL4A3,MFF-DTc.2262A>T (p.Thr754=)
n.330-903T>A
c.2157A>T (p.Thr719=)
c.1023A>T (p.Thr341=)
n.2400A>T
2g.227280479C>ACA350849032COL4A3,MFF-DTc.2263C>A (p.Pro755Thr)
n.330-904G>T
c.2158C>A (p.Pro720Thr)
c.1024C>A (p.Pro342Thr)
n.2401C>A
2g.227280479C=CA1332849695COL4A3,MFF-DTc.2263C= (p.Pro755=)
n.330-904G=
c.2158C= (p.Pro720=)
c.1024C= (p.Pro342=)
n.2401C=
2g.227280479C>GCA350849033COL4A3,MFF-DTc.2263C>G (p.Pro755Ala)
n.330-904G>C
c.2158C>G (p.Pro720Ala)
c.1024C>G (p.Pro342Ala)
n.2401C>G
2g.227280479C>TCA2146907COL4A3,MFF-DTc.2263C>T (p.Pro755Ser)
n.330-904G>A
c.2158C>T (p.Pro720Ser)
c.1024C>T (p.Pro342Ser)
n.2401C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.227280480C>ACA350849036COL4A3,MFF-DTc.2264C>A (p.Pro755Gln)
n.330-905G>T
c.2159C>A (p.Pro720Gln)
c.1025C>A (p.Pro342Gln)
n.2402C>A
2g.227280480C>GCA350849037COL4A3,MFF-DTc.2264C>G (p.Pro755Arg)
n.330-905G>C
c.2159C>G (p.Pro720Arg)
c.1025C>G (p.Pro342Arg)
n.2402C>G
2g.227280480C>TCA350849039COL4A3,MFF-DTc.2264C>T (p.Pro755Leu)
n.330-905G>A
c.2159C>T (p.Pro720Leu)
c.1025C>T (p.Pro342Leu)
n.2402C>T
2g.227280481A>CCA431501735COL4A3,MFF-DTc.2265A>C (p.Pro755=)
n.330-906T>G
c.2160A>C (p.Pro720=)
c.1026A>C (p.Pro342=)
n.2403A>C
2g.227280481A>GCA431501736COL4A3,MFF-DTc.2265A>G (p.Pro755=)
n.330-906T>C
c.2160A>G (p.Pro720=)
c.1026A>G (p.Pro342=)
n.2403A>G
 COSMIC COSMIC
2g.227280481A>TCA431501737COL4A3,MFF-DTc.2265A>T (p.Pro755=)
n.330-906T>A
c.2160A>T (p.Pro720=)
c.1026A>T (p.Pro342=)
n.2403A>T
2g.227280482G>ACA350849044COL4A3,MFF-DTc.2266G>A (p.Gly756Ser)
n.330-907C>T
c.2161G>A (p.Gly721Ser)
c.1027G>A (p.Gly343Ser)
n.2404G>A
2g.227280482G>CCA350849041COL4A3,MFF-DTc.2266G>C (p.Gly756Arg)
n.330-907C>G
c.2161G>C (p.Gly721Arg)
c.1027G>C (p.Gly343Arg)
n.2404G>C
2g.227280482G>TCA350849043COL4A3,MFF-DTc.2266G>T (p.Gly756Cys)
n.330-907C>A
c.2161G>T (p.Gly721Cys)
c.1027G>T (p.Gly343Cys)
n.2404G>T
2g.227280483G>ACA350849047COL4A3,MFF-DTc.2267G>A (p.Gly756Asp)
n.330-908C>T
c.2162G>A (p.Gly721Asp)
c.1028G>A (p.Gly343Asp)
n.2405G>A
 ClinVar dbSNP
2g.227280483G>CCA350849049COL4A3,MFF-DTc.2267G>C (p.Gly756Ala)
n.330-908C>G
c.2162G>C (p.Gly721Ala)
c.1028G>C (p.Gly343Ala)
n.2405G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.227280483G=CA1332849696COL4A3,MFF-DTc.2267G= (p.Gly756=)
n.330-908C=
c.2162G= (p.Gly721=)
c.1028G= (p.Gly343=)
n.2405G=
2g.227280483G>TCA350849050COL4A3,MFF-DTc.2267G>T (p.Gly756Val)
n.330-908C>A
c.2162G>T (p.Gly721Val)
c.1028G>T (p.Gly343Val)
n.2405G>T
2g.227280484T>ACA431501738COL4A3,MFF-DTc.2268T>A (p.Gly756=)
n.330-909A>T
c.2163T>A (p.Gly721=)
c.1029T>A (p.Gly343=)
n.2406T>A
2g.227280484T>CCA431501739COL4A3,MFF-DTc.2268T>C (p.Gly756=)
n.330-909A>G
c.2163T>C (p.Gly721=)
c.1029T>C (p.Gly343=)
n.2406T>C
2g.227280484T>GCA431501740COL4A3,MFF-DTc.2268T>G (p.Gly756=)
n.330-909A>C
c.2163T>G (p.Gly721=)
c.1029T>G (p.Gly343=)
n.2406T>G
 gnomAD v4
2g.227280485T>ACA350849051COL4A3,MFF-DTc.2269T>A (p.Phe757Ile)
n.330-910A>T
c.2164T>A (p.Phe722Ile)
c.1030T>A (p.Phe344Ile)
n.2407T>A
2g.227280485T>CCA2146908COL4A3,MFF-DTc.2269T>C (p.Phe757Leu)
n.330-910A>G
c.2164T>C (p.Phe722Leu)
c.1030T>C (p.Phe344Leu)
n.2407T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.227280485T>GCA350849052COL4A3,MFF-DTc.2269T>G (p.Phe757Val)
n.330-910A>C
c.2164T>G (p.Phe722Val)
c.1030T>G (p.Phe344Val)
n.2407T>G
2g.227280485T=CA1332849697COL4A3,MFF-DTc.2269T= (p.Phe757=)
n.330-910A=
c.2164T= (p.Phe722=)
c.1030T= (p.Phe344=)
n.2407T=
2g.227280486T>ACA350849054COL4A3,MFF-DTc.2270T>A (p.Phe757Tyr)
n.330-911A>T
c.2165T>A (p.Phe722Tyr)
c.1031T>A (p.Phe344Tyr)
n.2408T>A
2g.227280486T>CCA350849056COL4A3,MFF-DTc.2270T>C (p.Phe757Ser)
n.330-911A>G
c.2165T>C (p.Phe722Ser)
c.1031T>C (p.Phe344Ser)
n.2408T>C
2g.227280486T>GCA350849058COL4A3,MFF-DTc.2270T>G (p.Phe757Cys)
n.330-911A>C
c.2165T>G (p.Phe722Cys)
c.1031T>G (p.Phe344Cys)
n.2408T>G
2g.227280487T>ACA350849061COL4A3,MFF-DTc.2271T>A (p.Phe757Leu)
n.330-912A>T
c.2166T>A (p.Phe722Leu)
c.1032T>A (p.Phe344Leu)
n.2409T>A
2g.227280487T>CCA431501741COL4A3,MFF-DTc.2271T>C (p.Phe757=)
n.330-912A>G
c.2166T>C (p.Phe722=)
c.1032T>C (p.Phe344=)
n.2409T>C
2g.227280487T>GCA350849062COL4A3,MFF-DTc.2271T>G (p.Phe757Leu)
n.330-912A>C
c.2166T>G (p.Phe722Leu)
c.1032T>G (p.Phe344Leu)
n.2409T>G
2g.227280488C>ACA350849066COL4A3,MFF-DTc.2272C>A (p.Pro758Thr)
n.330-913G>T
c.2167C>A (p.Pro723Thr)
c.1033C>A (p.Pro345Thr)
n.2410C>A
2g.227280488C>GCA350849069COL4A3,MFF-DTc.2272C>G (p.Pro758Ala)
n.330-913G>C
c.2167C>G (p.Pro723Ala)
c.1033C>G (p.Pro345Ala)
n.2410C>G
2g.227280488C>TCA350849064COL4A3,MFF-DTc.2272C>T (p.Pro758Ser)
n.330-913G>A
c.2167C>T (p.Pro723Ser)
c.1033C>T (p.Pro345Ser)
n.2410C>T
2g.227280489C>ACA350849073COL4A3,MFF-DTc.2273C>A (p.Pro758Gln)
n.330-914G>T
c.2168C>A (p.Pro723Gln)
c.1034C>A (p.Pro345Gln)
n.2411C>A
2g.227280489C=CA1332849698COL4A3,MFF-DTc.2273C= (p.Pro758=)
n.330-914G=
c.2168C= (p.Pro723=)
c.1034C= (p.Pro345=)
n.2411C=
2g.227280489C>GCA350849074COL4A3,MFF-DTc.2273C>G (p.Pro758Arg)
n.330-914G>C
c.2168C>G (p.Pro723Arg)
c.1034C>G (p.Pro345Arg)
n.2411C>G
2g.227280489C>TCA350849076COL4A3,MFF-DTc.2273C>T (p.Pro758Leu)
n.330-914G>A
c.2168C>T (p.Pro723Leu)
c.1034C>T (p.Pro345Leu)
n.2411C>T
 dbSNP
2g.227280490A>CCA431501742COL4A3,MFF-DTc.2274A>C (p.Pro758=)
n.330-915T>G
c.2169A>C (p.Pro723=)
c.1035A>C (p.Pro345=)
n.2412A>C
2g.227280490A>GCA431501744COL4A3,MFF-DTc.2274A>G (p.Pro758=)
n.330-915T>C
c.2169A>G (p.Pro723=)
c.1035A>G (p.Pro345=)
n.2412A>G
2g.227280490A>TCA431501743COL4A3,MFF-DTc.2274A>T (p.Pro758=)
n.330-915T>A
c.2169A>T (p.Pro723=)
c.1035A>T (p.Pro345=)
n.2412A>T
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

Number of alleles fetched