Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.227280395G= | CA1332849656 | COL4A3,MFF-DT | c.2224-45G= (n.2224-45G=) n.330-820C= c.2119-45G= (n.2119-45G=) c.985-45G= (n.985-45G=) n.2362-45G= | |
2 | g.227280395G>T | CA2146897 | COL4A3,MFF-DT | c.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 |
2 | g.227280398T>C | CA539900319 | COL4A3,MFF-DT | c.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 |
2 | g.227280398T>G | CA1332849658 | COL4A3,MFF-DT | c.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 |
2 | g.227280398T= | CA1332849657 | COL4A3,MFF-DT | c.2224-42T= (n.2224-42T=) n.330-823A= c.2119-42T= (n.2119-42T=) c.985-42T= (n.985-42T=) n.2362-42T= | |
2 | g.227280400G>A | CA1332849660 | COL4A3,MFF-DT | c.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 |
2 | g.227280400G= | CA1332849659 | COL4A3,MFF-DT | c.2224-40G= (n.2224-40G=) n.330-825C= c.2119-40G= (n.2119-40G=) c.985-40G= (n.985-40G=) n.2362-40G= | |
2 | g.227280401G= | CA1332849661 | COL4A3,MFF-DT | c.2224-39G= (n.2224-39G=) n.330-826C= c.2119-39G= (n.2119-39G=) c.985-39G= (n.985-39G=) n.2362-39G= | |
2 | g.227280401G>T | CA66598588 | COL4A3,MFF-DT | c.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 |
2 | g.227280404G>A | CA539900320 | COL4A3,MFF-DT | c.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 |
2 | g.227280404G>C | CA2663423921 | COL4A3,MFF-DT | c.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 |
2 | g.227280404G= | CA1332849662 | COL4A3,MFF-DT | c.2224-36G= (n.2224-36G=) n.330-829C= c.2119-36G= (n.2119-36G=) c.985-36G= (n.985-36G=) n.2362-36G= | |
2 | g.227280405C>A | CA2754514462 | COL4A3,MFF-DT | c.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 | |
2 | g.227280405C>T | CA2754514461 | COL4A3,MFF-DT | c.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 | |
2 | g.227280406A= | CA1332849663 | COL4A3,MFF-DT | c.2224-34A= (n.2224-34A=) n.330-831T= c.2119-34A= (n.2119-34A=) c.985-34A= (n.985-34A=) n.2362-34A= | |
2 | g.227280406A>G | CA66598597 | COL4A3,MFF-DT | c.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 |
2 | g.227280407C= | CA1332849664 | COL4A3,MFF-DT | c.2224-33C= (n.2224-33C=) n.330-832G= c.2119-33C= (n.2119-33C=) c.985-33C= (n.985-33C=) n.2362-33C= | |
2 | g.227280407C>G | CA2146898 | COL4A3,MFF-DT | c.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 |
2 | g.227280407C>T | CA1332849665 | COL4A3,MFF-DT | c.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 |
2 | g.227280409A= | CA1332849666 | COL4A3,MFF-DT | c.2224-31A= (n.2224-31A=) n.330-834T= c.2119-31A= (n.2119-31A=) c.985-31A= (n.985-31A=) n.2362-31A= | |
2 | g.227280409A>G | CA2146899 | COL4A3,MFF-DT | c.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 |
2 | g.227280410T>A | CA2146900 | COL4A3,MFF-DT | c.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 |
2 | g.227280410T>C | CA1043061688 | COL4A3,MFF-DT | c.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 |
2 | g.227280410T= | CA1332849667 | COL4A3,MFF-DT | c.2224-30T= (n.2224-30T=) n.330-835A= c.2119-30T= (n.2119-30T=) c.985-30T= (n.985-30T=) n.2362-30T= | |
2 | g.227280411A= | CA1332849668 | COL4A3,MFF-DT | c.2224-29A= (n.2224-29A=) n.330-836T= c.2119-29A= (n.2119-29A=) c.985-29A= (n.985-29A=) n.2362-29A= | |
2 | g.227280411A>G | CA2146901 | COL4A3,MFF-DT | c.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 |
2 | g.227280412T>C | CA539900321 | COL4A3,MFF-DT | c.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 |
2 | g.227280412T= | CA1332849669 | COL4A3,MFF-DT | c.2224-28T= (n.2224-28T=) n.330-837A= c.2119-28T= (n.2119-28T=) c.985-28T= (n.985-28T=) n.2362-28T= | |
2 | g.227280413A= | CA1332849670 | COL4A3,MFF-DT | c.2224-27A= (n.2224-27A=) n.330-838T= c.2119-27A= (n.2119-27A=) c.985-27A= (n.985-27A=) n.2362-27A= | |
2 | g.227280413A>G | CA2146902 | COL4A3,MFF-DT | c.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 |
2 | g.227280413A>T | CA1043061691 | COL4A3,MFF-DT | c.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 |
2 | g.227280415T>G | CA2146903 | COL4A3,MFF-DT | c.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 |
2 | g.227280415T= | CA1332849671 | COL4A3,MFF-DT | c.2224-25T= (n.2224-25T=) n.330-840A= c.2119-25T= (n.2119-25T=) c.985-25T= (n.985-25T=) n.2362-25T= | |
2 | g.227280419A>G | CA2663423944 | COL4A3,MFF-DT | c.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 |
2 | g.227280422A= | CA1332849672 | COL4A3,MFF-DT | c.2224-18A= (n.2224-18A=) n.330-847T= c.2119-18A= (n.2119-18A=) c.985-18A= (n.985-18A=) n.2362-18A= | |
2 | g.227280422A>G | CA539900323 | COL4A3,MFF-DT | c.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 |
2 | g.227280423C>T | CA2577265099 | COL4A3,MFF-DT | c.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 | |
2 | g.227280424A= | CA1332849673 | COL4A3,MFF-DT | c.2224-16A= (n.2224-16A=) n.330-849T= c.2119-16A= (n.2119-16A=) c.985-16A= (n.985-16A=) n.2362-16A= | |
2 | g.227280424A>G | CA1043061693 | COL4A3,MFF-DT | c.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 |
2 | g.227280425A= | CA1332849674 | COL4A3,MFF-DT | c.2224-15A= (n.2224-15A=) n.330-850T= c.2119-15A= (n.2119-15A=) c.985-15A= (n.985-15A=) n.2362-15A= | |
2 | g.227280425A>G | CA1332849675 | COL4A3,MFF-DT | c.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 |
2 | g.227280425A>T | CA539900325 | COL4A3,MFF-DT | c.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 |
2 | g.227280426T>C | CA539900327 | COL4A3,MFF-DT | c.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 |
2 | g.227280426T= | CA1332849676 | COL4A3,MFF-DT | c.2224-14T= (n.2224-14T=) n.330-851A= c.2119-14T= (n.2119-14T=) c.985-14T= (n.985-14T=) n.2362-14T= | |
2 | g.227280427T>A | CA1332849678 | COL4A3,MFF-DT | c.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 |
2 | g.227280427T>C | CA2663418665 | COL4A3,MFF-DT | c.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 |
2 | g.227280427T= | CA1332849677 | COL4A3,MFF-DT | c.2224-13T= (n.2224-13T=) n.330-852A= c.2119-13T= (n.2119-13T=) c.985-13T= (n.985-13T=) n.2362-13T= | |
2 | g.227280429C>A | CA2577265100 | COL4A3,MFF-DT | c.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 |
2 | g.227280429C= | CA1332849680 | COL4A3,MFF-DT | c.2224-11C= (n.2224-11C=) n.330-854G= c.2119-11C= (n.2119-11C=) c.985-11C= (n.985-11C=) n.2362-11C= | |
2 | g.227280429C>T | CA1332849679 | COL4A3,MFF-DT | c.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 |
2 | g.227280430T>C | CA2697550537 | COL4A3,MFF-DT | c.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 |
2 | g.227280431A= | CA1332849681 | COL4A3,MFF-DT | c.2224-9A= (n.2224-9A=) n.330-856T= c.2119-9A= (n.2119-9A=) c.985-9A= (n.985-9A=) n.2362-9A= | |
2 | g.227280431A>G | CA2146904 | COL4A3,MFF-DT | c.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 |
2 | g.227280432T>C | CA2577265101 | COL4A3,MFF-DT | c.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 | |
2 | g.227280433G>A | CA2573135516 | COL4A3,MFF-DT | c.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 |
2 | g.227280434C= | CA1332849682 | COL4A3,MFF-DT | c.2224-6C= (n.2224-6C=) n.330-859G= c.2119-6C= (n.2119-6C=) c.985-6C= (n.985-6C=) n.2362-6C= | |
2 | g.227280434C>G | CA539900328 | COL4A3,MFF-DT | c.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 |
2 | g.227280434C>T | CA1043061696 | COL4A3,MFF-DT | c.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 |
2 | g.227280435T>C | CA2577265102 | COL4A3,MFF-DT | c.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 | |
2 | g.227280436G>A | CA2701744180 | COL4A3,MFF-DT | c.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 |
2 | g.227280438A= | CA1332849683 | COL4A3,MFF-DT | c.2224-2A= (n.2224-2A=) n.330-863T= c.2119-2A= (n.2119-2A=) c.985-2A= (n.985-2A=) n.2362-2A= | |
2 | g.227280438A>C | CA350848886 | COL4A3,MFF-DT | c.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 |
2 | g.227280438A>G | CA350848884 | COL4A3,MFF-DT | c.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 |
2 | g.227280438A>T | CA350848882 | COL4A3,MFF-DT | c.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 | |
2 | g.227280439G>A | CA2146905 | COL4A3,MFF-DT | c.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 |
2 | g.227280439G>C | CA350848887 | COL4A3,MFF-DT | c.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 | |
2 | g.227280439G= | CA1332849684 | COL4A3,MFF-DT | c.2224-1G= (n.2224-1G=) n.330-864C= c.2119-1G= (n.2119-1G=) c.985-1G= (n.985-1G=) n.2362-1G= | |
2 | g.227280439G>T | CA350848888 | COL4A3,MFF-DT | c.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 |
2 | g.227280441del | CA2573135517 | COL4A3,MFF-DT | c.2225del n.330-864del c.2120del c.986del n.2363del | ClinVar dbSNP |
2 | g.227280440G>A | CA350848890 | COL4A3,MFF-DT | c.2224G>A (p.Gly742Arg) n.330-865C>T c.2119G>A (p.Gly707Arg) c.985G>A (p.Gly329Arg) n.2362G>A | |
2 | g.227280440G>C | CA350848891 | COL4A3,MFF-DT | c.2224G>C (p.Gly742Arg) n.330-865C>G c.2119G>C (p.Gly707Arg) c.985G>C (p.Gly329Arg) n.2362G>C | |
2 | g.227280440G>T | CA350848893 | COL4A3,MFF-DT | c.2224G>T (p.Gly742Ter) n.330-865C>A c.2119G>T (p.Gly707Ter) c.985G>T (p.Gly329Ter) n.2362G>T | |
2 | g.227280441G>A | CA350848895 | COL4A3,MFF-DT | c.2225G>A (p.Gly742Glu) n.330-866C>T c.2120G>A (p.Gly707Glu) c.986G>A (p.Gly329Glu) n.2363G>A | ClinVar |
2 | g.227280441G>C | CA350848896 | COL4A3,MFF-DT | c.2225G>C (p.Gly742Ala) n.330-866C>G c.2120G>C (p.Gly707Ala) c.986G>C (p.Gly329Ala) n.2363G>C | |
2 | g.227280441G>T | CA350848898 | COL4A3,MFF-DT | c.2225G>T (p.Gly742Val) n.330-866C>A c.2120G>T (p.Gly707Val) c.986G>T (p.Gly329Val) n.2363G>T | |
2 | g.227280442A>C | CA431501701 | COL4A3,MFF-DT | c.2226A>C (p.Gly742=) n.330-867T>G c.2121A>C (p.Gly707=) c.987A>C (p.Gly329=) n.2364A>C | |
2 | g.227280442A>G | CA431501702 | COL4A3,MFF-DT | c.2226A>G (p.Gly742=) n.330-867T>C c.2121A>G (p.Gly707=) c.987A>G (p.Gly329=) n.2364A>G | gnomAD v4 |
2 | g.227280442A>T | CA431501703 | COL4A3,MFF-DT | c.2226A>T (p.Gly742=) n.330-867T>A c.2121A>T (p.Gly707=) c.987A>T (p.Gly329=) n.2364A>T | |
2 | g.227280443G>A | CA350848899 | COL4A3,MFF-DT | c.2227G>A (p.Glu743Lys) n.330-868C>T c.2122G>A (p.Glu708Lys) c.988G>A (p.Glu330Lys) n.2365G>A | |
2 | g.227280443G>C | CA350848900 | COL4A3,MFF-DT | c.2227G>C (p.Glu743Gln) n.330-868C>G c.2122G>C (p.Glu708Gln) c.988G>C (p.Glu330Gln) n.2365G>C | |
2 | g.227280443G>T | CA350848901 | COL4A3,MFF-DT | c.2227G>T (p.Glu743Ter) n.330-868C>A c.2122G>T (p.Glu708Ter) c.988G>T (p.Glu330Ter) n.2365G>T | |
2 | g.227280444A>C | CA350848904 | COL4A3,MFF-DT | c.2228A>C (p.Glu743Ala) n.330-869T>G c.2123A>C (p.Glu708Ala) c.989A>C (p.Glu330Ala) n.2366A>C | |
2 | g.227280444A>G | CA350848906 | COL4A3,MFF-DT | c.2228A>G (p.Glu743Gly) n.330-869T>C c.2123A>G (p.Glu708Gly) c.989A>G (p.Glu330Gly) n.2366A>G | |
2 | g.227280444A>T | CA350848902 | COL4A3,MFF-DT | c.2228A>T (p.Glu743Val) n.330-869T>A c.2123A>T (p.Glu708Val) c.989A>T (p.Glu330Val) n.2366A>T | |
2 | g.227280445A= | CA1332849685 | COL4A3,MFF-DT | c.2229A= (p.Glu743=) n.330-870T= c.2124A= (p.Glu708=) c.990A= (p.Glu330=) n.2367A= | |
2 | g.227280445A>C | CA350848908 | COL4A3,MFF-DT | c.2229A>C (p.Glu743Asp) n.330-870T>G c.2124A>C (p.Glu708Asp) c.990A>C (p.Glu330Asp) n.2367A>C | dbSNP |
2 | g.227280445A>G | CA431501704 | COL4A3,MFF-DT | c.2229A>G (p.Glu743=) n.330-870T>C c.2124A>G (p.Glu708=) c.990A>G (p.Glu330=) n.2367A>G | |
2 | g.227280445A>T | CA350848909 | COL4A3,MFF-DT | c.2229A>T (p.Glu743Asp) n.330-870T>A c.2124A>T (p.Glu708Asp) c.990A>T (p.Glu330Asp) n.2367A>T | |
2 | g.227280446C>A | CA350848910 | COL4A3,MFF-DT | c.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 |
2 | g.227280446C= | CA1332849686 | COL4A3,MFF-DT | c.2230C= (p.Pro744=) n.330-871G= c.2125C= (p.Pro709=) c.991C= (p.Pro331=) n.2368C= | |
2 | g.227280446C>G | CA350848912 | COL4A3,MFF-DT | c.2230C>G (p.Pro744Ala) n.330-871G>C c.2125C>G (p.Pro709Ala) c.991C>G (p.Pro331Ala) n.2368C>G | |
2 | g.227280446C>T | CA350848914 | COL4A3,MFF-DT | c.2230C>T (p.Pro744Ser) n.330-871G>A c.2125C>T (p.Pro709Ser) c.991C>T (p.Pro331Ser) n.2368C>T | |
2 | g.227280447C>A | CA350848919 | COL4A3,MFF-DT | c.2231C>A (p.Pro744Gln) n.330-872G>T c.2126C>A (p.Pro709Gln) c.992C>A (p.Pro331Gln) n.2369C>A | |
2 | g.227280447C= | CA1332849687 | COL4A3,MFF-DT | c.2231C= (p.Pro744=) n.330-872G= c.2126C= (p.Pro709=) c.992C= (p.Pro331=) n.2369C= | |
2 | g.227280447C>G | CA350848918 | COL4A3,MFF-DT | c.2231C>G (p.Pro744Arg) n.330-872G>C c.2126C>G (p.Pro709Arg) c.992C>G (p.Pro331Arg) n.2369C>G | |
2 | g.227280447C>T | CA350848916 | COL4A3,MFF-DT | c.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 |
2 | g.227280448A>C | CA431501705 | COL4A3,MFF-DT | c.2232A>C (p.Pro744=) n.330-873T>G c.2127A>C (p.Pro709=) c.993A>C (p.Pro331=) n.2370A>C | |
2 | g.227280448A>G | CA431501706 | COL4A3,MFF-DT | c.2232A>G (p.Pro744=) n.330-873T>C c.2127A>G (p.Pro709=) c.993A>G (p.Pro331=) n.2370A>G | |
2 | g.227280448A>T | CA431501707 | COL4A3,MFF-DT | c.2232A>T (p.Pro744=) n.330-873T>A c.2127A>T (p.Pro709=) c.993A>T (p.Pro331=) n.2370A>T | |
2 | g.227280449G>A | CA350848920 | COL4A3,MFF-DT | c.2233G>A (p.Ala745Thr) n.330-874C>T c.2128G>A (p.Ala710Thr) c.994G>A (p.Ala332Thr) n.2371G>A | |
2 | g.227280449G>C | CA350848921 | COL4A3,MFF-DT | c.2233G>C (p.Ala745Pro) n.330-874C>G c.2128G>C (p.Ala710Pro) c.994G>C (p.Ala332Pro) n.2371G>C | |
2 | g.227280449G>T | CA350848922 | COL4A3,MFF-DT | c.2233G>T (p.Ala745Ser) n.330-874C>A c.2128G>T (p.Ala710Ser) c.994G>T (p.Ala332Ser) n.2371G>T | |
2 | g.227280450C>A | CA350848923 | COL4A3,MFF-DT | c.2234C>A (p.Ala745Glu) n.330-875G>T c.2129C>A (p.Ala710Glu) c.995C>A (p.Ala332Glu) n.2372C>A | |
2 | g.227280450C>G | CA350848925 | COL4A3,MFF-DT | c.2234C>G (p.Ala745Gly) n.330-875G>C c.2129C>G (p.Ala710Gly) c.995C>G (p.Ala332Gly) n.2372C>G | |
2 | g.227280450C>T | CA350848927 | COL4A3,MFF-DT | c.2234C>T (p.Ala745Val) n.330-875G>A c.2129C>T (p.Ala710Val) c.995C>T (p.Ala332Val) n.2372C>T | |
2 | g.227280451A>C | CA431501710 | COL4A3,MFF-DT | c.2235A>C (p.Ala745=) n.330-876T>G c.2130A>C (p.Ala710=) c.996A>C (p.Ala332=) n.2373A>C | |
2 | g.227280451A>G | CA431501708 | COL4A3,MFF-DT | c.2235A>G (p.Ala745=) n.330-876T>C c.2130A>G (p.Ala710=) c.996A>G (p.Ala332=) n.2373A>G | |
2 | g.227280451A>T | CA431501709 | COL4A3,MFF-DT | c.2235A>T (p.Ala745=) n.330-876T>A c.2130A>T (p.Ala710=) c.996A>T (p.Ala332=) n.2373A>T | |
2 | g.227280452G>A | CA350848929 | COL4A3,MFF-DT | c.2236G>A (p.Val746Ile) n.330-877C>T c.2131G>A (p.Val711Ile) c.997G>A (p.Val333Ile) n.2374G>A | |
2 | g.227280452G>C | CA350848933 | COL4A3,MFF-DT | c.2236G>C (p.Val746Leu) n.330-877C>G c.2131G>C (p.Val711Leu) c.997G>C (p.Val333Leu) n.2374G>C | |
2 | g.227280452G>T | CA350848930 | COL4A3,MFF-DT | c.2236G>T (p.Val746Leu) n.330-877C>A c.2131G>T (p.Val711Leu) c.997G>T (p.Val333Leu) n.2374G>T | |
2 | g.227280453T>A | CA350848934 | COL4A3,MFF-DT | c.2237T>A (p.Val746Glu) n.330-878A>T c.2132T>A (p.Val711Glu) c.998T>A (p.Val333Glu) n.2375T>A | |
2 | g.227280453T>C | CA66598648 | COL4A3,MFF-DT | c.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 |
2 | g.227280453T>G | CA350848937 | COL4A3,MFF-DT | c.2237T>G (p.Val746Gly) n.330-878A>C c.2132T>G (p.Val711Gly) c.998T>G (p.Val333Gly) n.2375T>G | |
2 | g.227280453T= | CA1332849688 | COL4A3,MFF-DT | c.2237T= (p.Val746=) n.330-878A= c.2132T= (p.Val711=) c.998T= (p.Val333=) n.2375T= | |
2 | g.227280454A>C | CA431501711 | COL4A3,MFF-DT | c.2238A>C (p.Val746=) n.330-879T>G c.2133A>C (p.Val711=) c.999A>C (p.Val333=) n.2376A>C | |
2 | g.227280454A>G | CA431501712 | COL4A3,MFF-DT | c.2238A>G (p.Val746=) n.330-879T>C c.2133A>G (p.Val711=) c.999A>G (p.Val333=) n.2376A>G | |
2 | g.227280454A>T | CA431501713 | COL4A3,MFF-DT | c.2238A>T (p.Val746=) n.330-879T>A c.2133A>T (p.Val711=) c.999A>T (p.Val333=) n.2376A>T | |
2 | g.227280455G>A | CA350848939 | COL4A3,MFF-DT | c.2239G>A (p.Ala747Thr) n.330-880C>T c.2134G>A (p.Ala712Thr) c.1000G>A (p.Ala334Thr) n.2377G>A | |
2 | g.227280455G>C | CA350848940 | COL4A3,MFF-DT | c.2239G>C (p.Ala747Pro) n.330-880C>G c.2134G>C (p.Ala712Pro) c.1000G>C (p.Ala334Pro) n.2377G>C | |
2 | g.227280455G>T | CA350848941 | COL4A3,MFF-DT | c.2239G>T (p.Ala747Ser) n.330-880C>A c.2134G>T (p.Ala712Ser) c.1000G>T (p.Ala334Ser) n.2377G>T | |
2 | g.227280456C>A | CA350848942 | COL4A3,MFF-DT | c.2240C>A (p.Ala747Asp) n.330-881G>T c.2135C>A (p.Ala712Asp) c.1001C>A (p.Ala334Asp) n.2378C>A | |
2 | g.227280456C>G | CA350848943 | COL4A3,MFF-DT | c.2240C>G (p.Ala747Gly) n.330-881G>C c.2135C>G (p.Ala712Gly) c.1001C>G (p.Ala334Gly) n.2378C>G | gnomAD v4 |
2 | g.227280456C>T | CA350848944 | COL4A3,MFF-DT | c.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 |
2 | g.227280457C>A | CA431501716 | COL4A3,MFF-DT | c.2241C>A (p.Ala747=) n.330-882G>T c.2136C>A (p.Ala712=) c.1002C>A (p.Ala334=) n.2379C>A | |
2 | g.227280457C>G | CA431501714 | COL4A3,MFF-DT | c.2241C>G (p.Ala747=) n.330-882G>C c.2136C>G (p.Ala712=) c.1002C>G (p.Ala334=) n.2379C>G | |
2 | g.227280457C>T | CA431501715 | COL4A3,MFF-DT | c.2241C>T (p.Ala747=) n.330-882G>A c.2136C>T (p.Ala712=) c.1002C>T (p.Ala334=) n.2379C>T | |
2 | g.227280458A>C | CA350848945 | COL4A3,MFF-DT | c.2242A>C (p.Met748Leu) n.330-883T>G c.2137A>C (p.Met713Leu) c.1003A>C (p.Met335Leu) n.2380A>C | |
2 | g.227280458A>G | CA350848946 | COL4A3,MFF-DT | c.2242A>G (p.Met748Val) n.330-883T>C c.2137A>G (p.Met713Val) c.1003A>G (p.Met335Val) n.2380A>G | |
2 | g.227280458A>T | CA350848948 | COL4A3,MFF-DT | c.2242A>T (p.Met748Leu) n.330-883T>A c.2137A>T (p.Met713Leu) c.1003A>T (p.Met335Leu) n.2380A>T | |
2 | g.227280459T>A | CA350848950 | COL4A3,MFF-DT | c.2243T>A (p.Met748Lys) n.330-884A>T c.2138T>A (p.Met713Lys) c.1004T>A (p.Met335Lys) n.2381T>A | |
2 | g.227280459T>C | CA350848952 | COL4A3,MFF-DT | c.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 |
2 | g.227280459T>G | CA350848949 | COL4A3,MFF-DT | c.2243T>G (p.Met748Arg) n.330-884A>C c.2138T>G (p.Met713Arg) c.1004T>G (p.Met335Arg) n.2381T>G | |
2 | g.227280459T= | CA1332849689 | COL4A3,MFF-DT | c.2243T= (p.Met748=) n.330-884A= c.2138T= (p.Met713=) c.1004T= (p.Met335=) n.2381T= | |
2 | g.227280460G>A | CA2146906 | COL4A3,MFF-DT | c.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 |
2 | g.227280460G>C | CA350848954 | COL4A3,MFF-DT | c.2244G>C (p.Met748Ile) n.330-885C>G c.2139G>C (p.Met713Ile) c.1005G>C (p.Met335Ile) n.2382G>C | |
2 | g.227280460G= | CA1332849690 | COL4A3,MFF-DT | c.2244G= (p.Met748=) n.330-885C= c.2139G= (p.Met713=) c.1005G= (p.Met335=) n.2382G= | |
2 | g.227280460G>T | CA350848956 | COL4A3,MFF-DT | c.2244G>T (p.Met748Ile) n.330-885C>A c.2139G>T (p.Met713Ile) c.1005G>T (p.Met335Ile) n.2382G>T | gnomAD v4 |
2 | g.227280461C>A | CA350848960 | COL4A3,MFF-DT | c.2245C>A (p.Pro749Thr) n.330-886G>T c.2140C>A (p.Pro714Thr) c.1006C>A (p.Pro336Thr) n.2383C>A | gnomAD v4 |
2 | g.227280461C= | CA1332849691 | COL4A3,MFF-DT | c.2245C= (p.Pro749=) n.330-886G= c.2140C= (p.Pro714=) c.1006C= (p.Pro336=) n.2383C= | |
2 | g.227280461C>G | CA350848961 | COL4A3,MFF-DT | c.2245C>G (p.Pro749Ala) n.330-886G>C c.2140C>G (p.Pro714Ala) c.1006C>G (p.Pro336Ala) n.2383C>G | |
2 | g.227280461C>T | CA350848963 | COL4A3,MFF-DT | c.2245C>T (p.Pro749Ser) n.330-886G>A c.2140C>T (p.Pro714Ser) c.1006C>T (p.Pro336Ser) n.2383C>T | dbSNP |
2 | g.227280462C>A | CA66598662 | COL4A3,MFF-DT | c.2246C>A (p.Pro749His) n.330-887G>T c.2141C>A (p.Pro714His) c.1007C>A (p.Pro336His) n.2384C>A | dbSNP gnomAD v4 |
2 | g.227280462C= | CA1332849692 | COL4A3,MFF-DT | c.2246C= (p.Pro749=) n.330-887G= c.2141C= (p.Pro714=) c.1007C= (p.Pro336=) n.2384C= | |
2 | g.227280462C>G | CA350848968 | COL4A3,MFF-DT | c.2246C>G (p.Pro749Arg) n.330-887G>C c.2141C>G (p.Pro714Arg) c.1007C>G (p.Pro336Arg) n.2384C>G | |
2 | g.227280462C>T | CA350848966 | COL4A3,MFF-DT | c.2246C>T (p.Pro749Leu) n.330-887G>A c.2141C>T (p.Pro714Leu) c.1007C>T (p.Pro336Leu) n.2384C>T | gnomAD v4 |
2 | g.227280463T>A | CA431501717 | COL4A3,MFF-DT | c.2247T>A (p.Pro749=) n.330-888A>T c.2142T>A (p.Pro714=) c.1008T>A (p.Pro336=) n.2385T>A | |
2 | g.227280463T>C | CA431501718 | COL4A3,MFF-DT | c.2247T>C (p.Pro749=) n.330-888A>G c.2142T>C (p.Pro714=) c.1008T>C (p.Pro336=) n.2385T>C | |
2 | g.227280463T>G | CA431501719 | COL4A3,MFF-DT | c.2247T>G (p.Pro749=) n.330-888A>C c.2142T>G (p.Pro714=) c.1008T>G (p.Pro336=) n.2385T>G | |
2 | g.227280464G>A | CA350848969 | COL4A3,MFF-DT | c.2248G>A (p.Gly750Arg) n.330-889C>T c.2143G>A (p.Gly715Arg) c.1009G>A (p.Gly337Arg) n.2386G>A | dbSNP gnomAD v4 |
2 | g.227280464G>C | CA350848970 | COL4A3,MFF-DT | c.2248G>C (p.Gly750Arg) n.330-889C>G c.2143G>C (p.Gly715Arg) c.1009G>C (p.Gly337Arg) n.2386G>C | |
2 | g.227280464G= | CA1332849693 | COL4A3,MFF-DT | c.2248G= (p.Gly750=) n.330-889C= c.2143G= (p.Gly715=) c.1009G= (p.Gly337=) n.2386G= | |
2 | g.227280464G>T | CA350848971 | COL4A3,MFF-DT | c.2248G>T (p.Gly750Ter) n.330-889C>A c.2143G>T (p.Gly715Ter) c.1009G>T (p.Gly337Ter) n.2386G>T | |
2 | g.227280465G>A | CA350848973 | COL4A3,MFF-DT | c.2249G>A (p.Gly750Glu) n.330-890C>T c.2144G>A (p.Gly715Glu) c.1010G>A (p.Gly337Glu) n.2387G>A | |
2 | g.227280465G>C | CA350848975 | COL4A3,MFF-DT | c.2249G>C (p.Gly750Ala) n.330-890C>G c.2144G>C (p.Gly715Ala) c.1010G>C (p.Gly337Ala) n.2387G>C | gnomAD v4 |
2 | g.227280465G>T | CA350848977 | COL4A3,MFF-DT | c.2249G>T (p.Gly750Val) n.330-890C>A c.2144G>T (p.Gly715Val) c.1010G>T (p.Gly337Val) n.2387G>T | |
2 | g.227280466A>C | CA431501720 | COL4A3,MFF-DT | c.2250A>C (p.Gly750=) n.330-891T>G c.2145A>C (p.Gly715=) c.1011A>C (p.Gly337=) n.2388A>C | |
2 | g.227280466A>G | CA431501721 | COL4A3,MFF-DT | c.2250A>G (p.Gly750=) n.330-891T>C c.2145A>G (p.Gly715=) c.1011A>G (p.Gly337=) n.2388A>G | |
2 | g.227280466A>T | CA431501722 | COL4A3,MFF-DT | c.2250A>T (p.Gly750=) n.330-891T>A c.2145A>T (p.Gly715=) c.1011A>T (p.Gly337=) n.2388A>T | |
2 | g.227280467G>A | CA350848990 | COL4A3,MFF-DT | c.2251G>A (p.Gly751Arg) n.330-892C>T c.2146G>A (p.Gly716Arg) c.1012G>A (p.Gly338Arg) n.2389G>A | |
2 | g.227280467G>C | CA350848986 | COL4A3,MFF-DT | c.2251G>C (p.Gly751Arg) n.330-892C>G c.2146G>C (p.Gly716Arg) c.1012G>C (p.Gly338Arg) n.2389G>C | |
2 | g.227280467G>T | CA350848987 | COL4A3,MFF-DT | c.2251G>T (p.Gly751Ter) n.330-892C>A c.2146G>T (p.Gly716Ter) c.1012G>T (p.Gly338Ter) n.2389G>T | |
2 | g.227280468G>A | CA350848991 | COL4A3,MFF-DT | c.2252G>A (p.Gly751Glu) n.330-893C>T c.2147G>A (p.Gly716Glu) c.1013G>A (p.Gly338Glu) n.2390G>A | |
2 | g.227280468G>C | CA350848992 | COL4A3,MFF-DT | c.2252G>C (p.Gly751Ala) n.330-893C>G c.2147G>C (p.Gly716Ala) c.1013G>C (p.Gly338Ala) n.2390G>C | |
2 | g.227280468G>T | CA350848993 | COL4A3,MFF-DT | c.2252G>T (p.Gly751Val) n.330-893C>A c.2147G>T (p.Gly716Val) c.1013G>T (p.Gly338Val) n.2390G>T | |
2 | g.227280469A>C | CA431501723 | COL4A3,MFF-DT | c.2253A>C (p.Gly751=) n.330-894T>G c.2148A>C (p.Gly716=) c.1014A>C (p.Gly338=) n.2391A>C | |
2 | g.227280469A>G | CA431501724 | COL4A3,MFF-DT | c.2253A>G (p.Gly751=) n.330-894T>C c.2148A>G (p.Gly716=) c.1014A>G (p.Gly338=) n.2391A>G | ClinVar gnomAD v4 |
2 | g.227280469A>T | CA431501725 | COL4A3,MFF-DT | c.2253A>T (p.Gly751=) n.330-894T>A c.2148A>T (p.Gly716=) c.1014A>T (p.Gly338=) n.2391A>T | |
2 | g.227280470C>A | CA350848994 | COL4A3,MFF-DT | c.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 |
2 | g.227280470C= | CA1332849694 | COL4A3,MFF-DT | c.2254C= (p.Pro752=) n.330-895G= c.2149C= (p.Pro717=) c.1015C= (p.Pro339=) n.2392C= | |
2 | g.227280470C>G | CA350848996 | COL4A3,MFF-DT | c.2254C>G (p.Pro752Ala) n.330-895G>C c.2149C>G (p.Pro717Ala) c.1015C>G (p.Pro339Ala) n.2392C>G | |
2 | g.227280470C>T | CA350848998 | COL4A3,MFF-DT | c.2254C>T (p.Pro752Ser) n.330-895G>A c.2149C>T (p.Pro717Ser) c.1015C>T (p.Pro339Ser) n.2392C>T | |
2 | g.227280471C>A | CA350848999 | COL4A3,MFF-DT | c.2255C>A (p.Pro752Gln) n.330-896G>T c.2150C>A (p.Pro717Gln) c.1016C>A (p.Pro339Gln) n.2393C>A | gnomAD v4 |
2 | g.227280471C>G | CA350849001 | COL4A3,MFF-DT | c.2255C>G (p.Pro752Arg) n.330-896G>C c.2150C>G (p.Pro717Arg) c.1016C>G (p.Pro339Arg) n.2393C>G | |
2 | g.227280471C>T | CA350849003 | COL4A3,MFF-DT | c.2255C>T (p.Pro752Leu) n.330-896G>A c.2150C>T (p.Pro717Leu) c.1016C>T (p.Pro339Leu) n.2393C>T | |
2 | g.227280472A>C | CA431501726 | COL4A3,MFF-DT | c.2256A>C (p.Pro752=) n.330-897T>G c.2151A>C (p.Pro717=) c.1017A>C (p.Pro339=) n.2394A>C | |
2 | g.227280472A>G | CA431501727 | COL4A3,MFF-DT | c.2256A>G (p.Pro752=) n.330-897T>C c.2151A>G (p.Pro717=) c.1017A>G (p.Pro339=) n.2394A>G | |
2 | g.227280472A>T | CA431501728 | COL4A3,MFF-DT | c.2256A>T (p.Pro752=) n.330-897T>A c.2151A>T (p.Pro717=) c.1017A>T (p.Pro339=) n.2394A>T | |
2 | g.227280473G>A | CA350849006 | COL4A3,MFF-DT | c.2257G>A (p.Gly753Arg) n.330-898C>T c.2152G>A (p.Gly718Arg) c.1018G>A (p.Gly340Arg) n.2395G>A | |
2 | g.227280473G>C | CA350849007 | COL4A3,MFF-DT | c.2257G>C (p.Gly753Arg) n.330-898C>G c.2152G>C (p.Gly718Arg) c.1018G>C (p.Gly340Arg) n.2395G>C | |
2 | g.227280473G>T | CA350849009 | COL4A3,MFF-DT | c.2257G>T (p.Gly753Ter) n.330-898C>A c.2152G>T (p.Gly718Ter) c.1018G>T (p.Gly340Ter) n.2395G>T | |
2 | g.227280474G>A | CA350849014 | COL4A3,MFF-DT | c.2258G>A (p.Gly753Glu) n.330-899C>T c.2153G>A (p.Gly718Glu) c.1019G>A (p.Gly340Glu) n.2396G>A | |
2 | g.227280474G>C | CA350849017 | COL4A3,MFF-DT | c.2258G>C (p.Gly753Ala) n.330-899C>G c.2153G>C (p.Gly718Ala) c.1019G>C (p.Gly340Ala) n.2396G>C | |
2 | g.227280474G>T | CA350849016 | COL4A3,MFF-DT | c.2258G>T (p.Gly753Val) n.330-899C>A c.2153G>T (p.Gly718Val) c.1019G>T (p.Gly340Val) n.2396G>T | |
2 | g.227280475A>C | CA431501729 | COL4A3,MFF-DT | c.2259A>C (p.Gly753=) n.330-900T>G c.2154A>C (p.Gly718=) c.1020A>C (p.Gly340=) n.2397A>C | |
2 | g.227280475A>G | CA431501730 | COL4A3,MFF-DT | c.2259A>G (p.Gly753=) n.330-900T>C c.2154A>G (p.Gly718=) c.1020A>G (p.Gly340=) n.2397A>G | |
2 | g.227280475A>T | CA431501731 | COL4A3,MFF-DT | c.2259A>T (p.Gly753=) n.330-900T>A c.2154A>T (p.Gly718=) c.1020A>T (p.Gly340=) n.2397A>T | gnomAD v4 |
2 | g.227280476A>C | CA350849019 | COL4A3,MFF-DT | c.2260A>C (p.Thr754Pro) n.330-901T>G c.2155A>C (p.Thr719Pro) c.1021A>C (p.Thr341Pro) n.2398A>C | |
2 | g.227280476A>G | CA350849021 | COL4A3,MFF-DT | c.2260A>G (p.Thr754Ala) n.330-901T>C c.2155A>G (p.Thr719Ala) c.1021A>G (p.Thr341Ala) n.2398A>G | |
2 | g.227280476A>T | CA350849025 | COL4A3,MFF-DT | c.2260A>T (p.Thr754Ser) n.330-901T>A c.2155A>T (p.Thr719Ser) c.1021A>T (p.Thr341Ser) n.2398A>T | |
2 | g.227280477C>A | CA350849028 | COL4A3,MFF-DT | c.2261C>A (p.Thr754Lys) n.330-902G>T c.2156C>A (p.Thr719Lys) c.1022C>A (p.Thr341Lys) n.2399C>A | |
2 | g.227280477C>G | CA350849030 | COL4A3,MFF-DT | c.2261C>G (p.Thr754Arg) n.330-902G>C c.2156C>G (p.Thr719Arg) c.1022C>G (p.Thr341Arg) n.2399C>G | |
2 | g.227280477C>T | CA350849031 | COL4A3,MFF-DT | c.2261C>T (p.Thr754Ile) n.330-902G>A c.2156C>T (p.Thr719Ile) c.1022C>T (p.Thr341Ile) n.2399C>T | gnomAD v4 |
2 | g.227280478A>C | CA431501732 | COL4A3,MFF-DT | c.2262A>C (p.Thr754=) n.330-903T>G c.2157A>C (p.Thr719=) c.1023A>C (p.Thr341=) n.2400A>C | |
2 | g.227280478A>G | CA431501734 | COL4A3,MFF-DT | c.2262A>G (p.Thr754=) n.330-903T>C c.2157A>G (p.Thr719=) c.1023A>G (p.Thr341=) n.2400A>G | |
2 | g.227280478A>T | CA431501733 | COL4A3,MFF-DT | c.2262A>T (p.Thr754=) n.330-903T>A c.2157A>T (p.Thr719=) c.1023A>T (p.Thr341=) n.2400A>T | |
2 | g.227280479C>A | CA350849032 | COL4A3,MFF-DT | c.2263C>A (p.Pro755Thr) n.330-904G>T c.2158C>A (p.Pro720Thr) c.1024C>A (p.Pro342Thr) n.2401C>A | |
2 | g.227280479C= | CA1332849695 | COL4A3,MFF-DT | c.2263C= (p.Pro755=) n.330-904G= c.2158C= (p.Pro720=) c.1024C= (p.Pro342=) n.2401C= | |
2 | g.227280479C>G | CA350849033 | COL4A3,MFF-DT | c.2263C>G (p.Pro755Ala) n.330-904G>C c.2158C>G (p.Pro720Ala) c.1024C>G (p.Pro342Ala) n.2401C>G | |
2 | g.227280479C>T | CA2146907 | COL4A3,MFF-DT | c.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 |
2 | g.227280480C>A | CA350849036 | COL4A3,MFF-DT | c.2264C>A (p.Pro755Gln) n.330-905G>T c.2159C>A (p.Pro720Gln) c.1025C>A (p.Pro342Gln) n.2402C>A | |
2 | g.227280480C>G | CA350849037 | COL4A3,MFF-DT | c.2264C>G (p.Pro755Arg) n.330-905G>C c.2159C>G (p.Pro720Arg) c.1025C>G (p.Pro342Arg) n.2402C>G | |
2 | g.227280480C>T | CA350849039 | COL4A3,MFF-DT | c.2264C>T (p.Pro755Leu) n.330-905G>A c.2159C>T (p.Pro720Leu) c.1025C>T (p.Pro342Leu) n.2402C>T | |
2 | g.227280481A>C | CA431501735 | COL4A3,MFF-DT | c.2265A>C (p.Pro755=) n.330-906T>G c.2160A>C (p.Pro720=) c.1026A>C (p.Pro342=) n.2403A>C | |
2 | g.227280481A>G | CA431501736 | COL4A3,MFF-DT | c.2265A>G (p.Pro755=) n.330-906T>C c.2160A>G (p.Pro720=) c.1026A>G (p.Pro342=) n.2403A>G | COSMIC COSMIC |
2 | g.227280481A>T | CA431501737 | COL4A3,MFF-DT | c.2265A>T (p.Pro755=) n.330-906T>A c.2160A>T (p.Pro720=) c.1026A>T (p.Pro342=) n.2403A>T | |
2 | g.227280482G>A | CA350849044 | COL4A3,MFF-DT | c.2266G>A (p.Gly756Ser) n.330-907C>T c.2161G>A (p.Gly721Ser) c.1027G>A (p.Gly343Ser) n.2404G>A | |
2 | g.227280482G>C | CA350849041 | COL4A3,MFF-DT | c.2266G>C (p.Gly756Arg) n.330-907C>G c.2161G>C (p.Gly721Arg) c.1027G>C (p.Gly343Arg) n.2404G>C | |
2 | g.227280482G>T | CA350849043 | COL4A3,MFF-DT | c.2266G>T (p.Gly756Cys) n.330-907C>A c.2161G>T (p.Gly721Cys) c.1027G>T (p.Gly343Cys) n.2404G>T | |
2 | g.227280483G>A | CA350849047 | COL4A3,MFF-DT | c.2267G>A (p.Gly756Asp) n.330-908C>T c.2162G>A (p.Gly721Asp) c.1028G>A (p.Gly343Asp) n.2405G>A | ClinVar dbSNP |
2 | g.227280483G>C | CA350849049 | COL4A3,MFF-DT | c.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 |
2 | g.227280483G= | CA1332849696 | COL4A3,MFF-DT | c.2267G= (p.Gly756=) n.330-908C= c.2162G= (p.Gly721=) c.1028G= (p.Gly343=) n.2405G= | |
2 | g.227280483G>T | CA350849050 | COL4A3,MFF-DT | c.2267G>T (p.Gly756Val) n.330-908C>A c.2162G>T (p.Gly721Val) c.1028G>T (p.Gly343Val) n.2405G>T | |
2 | g.227280484T>A | CA431501738 | COL4A3,MFF-DT | c.2268T>A (p.Gly756=) n.330-909A>T c.2163T>A (p.Gly721=) c.1029T>A (p.Gly343=) n.2406T>A | |
2 | g.227280484T>C | CA431501739 | COL4A3,MFF-DT | c.2268T>C (p.Gly756=) n.330-909A>G c.2163T>C (p.Gly721=) c.1029T>C (p.Gly343=) n.2406T>C | |
2 | g.227280484T>G | CA431501740 | COL4A3,MFF-DT | c.2268T>G (p.Gly756=) n.330-909A>C c.2163T>G (p.Gly721=) c.1029T>G (p.Gly343=) n.2406T>G | gnomAD v4 |
2 | g.227280485T>A | CA350849051 | COL4A3,MFF-DT | c.2269T>A (p.Phe757Ile) n.330-910A>T c.2164T>A (p.Phe722Ile) c.1030T>A (p.Phe344Ile) n.2407T>A | |
2 | g.227280485T>C | CA2146908 | COL4A3,MFF-DT | c.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 |
2 | g.227280485T>G | CA350849052 | COL4A3,MFF-DT | c.2269T>G (p.Phe757Val) n.330-910A>C c.2164T>G (p.Phe722Val) c.1030T>G (p.Phe344Val) n.2407T>G | |
2 | g.227280485T= | CA1332849697 | COL4A3,MFF-DT | c.2269T= (p.Phe757=) n.330-910A= c.2164T= (p.Phe722=) c.1030T= (p.Phe344=) n.2407T= | |
2 | g.227280486T>A | CA350849054 | COL4A3,MFF-DT | c.2270T>A (p.Phe757Tyr) n.330-911A>T c.2165T>A (p.Phe722Tyr) c.1031T>A (p.Phe344Tyr) n.2408T>A | |
2 | g.227280486T>C | CA350849056 | COL4A3,MFF-DT | c.2270T>C (p.Phe757Ser) n.330-911A>G c.2165T>C (p.Phe722Ser) c.1031T>C (p.Phe344Ser) n.2408T>C | |
2 | g.227280486T>G | CA350849058 | COL4A3,MFF-DT | c.2270T>G (p.Phe757Cys) n.330-911A>C c.2165T>G (p.Phe722Cys) c.1031T>G (p.Phe344Cys) n.2408T>G | |
2 | g.227280487T>A | CA350849061 | COL4A3,MFF-DT | c.2271T>A (p.Phe757Leu) n.330-912A>T c.2166T>A (p.Phe722Leu) c.1032T>A (p.Phe344Leu) n.2409T>A | |
2 | g.227280487T>C | CA431501741 | COL4A3,MFF-DT | c.2271T>C (p.Phe757=) n.330-912A>G c.2166T>C (p.Phe722=) c.1032T>C (p.Phe344=) n.2409T>C | |
2 | g.227280487T>G | CA350849062 | COL4A3,MFF-DT | c.2271T>G (p.Phe757Leu) n.330-912A>C c.2166T>G (p.Phe722Leu) c.1032T>G (p.Phe344Leu) n.2409T>G | |
2 | g.227280488C>A | CA350849066 | COL4A3,MFF-DT | c.2272C>A (p.Pro758Thr) n.330-913G>T c.2167C>A (p.Pro723Thr) c.1033C>A (p.Pro345Thr) n.2410C>A | |
2 | g.227280488C>G | CA350849069 | COL4A3,MFF-DT | c.2272C>G (p.Pro758Ala) n.330-913G>C c.2167C>G (p.Pro723Ala) c.1033C>G (p.Pro345Ala) n.2410C>G | |
2 | g.227280488C>T | CA350849064 | COL4A3,MFF-DT | c.2272C>T (p.Pro758Ser) n.330-913G>A c.2167C>T (p.Pro723Ser) c.1033C>T (p.Pro345Ser) n.2410C>T | |
2 | g.227280489C>A | CA350849073 | COL4A3,MFF-DT | c.2273C>A (p.Pro758Gln) n.330-914G>T c.2168C>A (p.Pro723Gln) c.1034C>A (p.Pro345Gln) n.2411C>A | |
2 | g.227280489C= | CA1332849698 | COL4A3,MFF-DT | c.2273C= (p.Pro758=) n.330-914G= c.2168C= (p.Pro723=) c.1034C= (p.Pro345=) n.2411C= | |
2 | g.227280489C>G | CA350849074 | COL4A3,MFF-DT | c.2273C>G (p.Pro758Arg) n.330-914G>C c.2168C>G (p.Pro723Arg) c.1034C>G (p.Pro345Arg) n.2411C>G | |
2 | g.227280489C>T | CA350849076 | COL4A3,MFF-DT | c.2273C>T (p.Pro758Leu) n.330-914G>A c.2168C>T (p.Pro723Leu) c.1034C>T (p.Pro345Leu) n.2411C>T | dbSNP |
2 | g.227280490A>C | CA431501742 | COL4A3,MFF-DT | c.2274A>C (p.Pro758=) n.330-915T>G c.2169A>C (p.Pro723=) c.1035A>C (p.Pro345=) n.2412A>C | |
2 | g.227280490A>G | CA431501744 | COL4A3,MFF-DT | c.2274A>G (p.Pro758=) n.330-915T>C c.2169A>G (p.Pro723=) c.1035A>G (p.Pro345=) n.2412A>G | |
2 | g.227280490A>T | CA431501743 | COL4A3,MFF-DT | c.2274A>T (p.Pro758=) n.330-915T>A c.2169A>T (p.Pro723=) c.1035A>T (p.Pro345=) n.2412A>T | |
2 | g.227280491G>A | CA350849079 | COL4A3,MFF-DT | c.2275G>A (p.Gly759Arg) n.330-916C>T c.2170G>A (p.Gly724Arg) c.1036G>A (p.Gly346Arg) n.2413G>A | ClinVar dbSNP |
2 | g.227280491G>C | CA350849081 | COL4A3,MFF-DT | c.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 |
2 | g.227280491G= | CA1332849699 | COL4A3,MFF-DT | c.2275G= (p.Gly759=) n.330-916C= c.2170G= (p.Gly724=) c.1036G= (p.Gly346=) n.2413G= | |
2 | g.227280491G>T | CA350849083 | COL4A3,MFF-DT | c.2275G>T (p.Gly759Ter) n.330-916C>A c.2170G>T (p.Gly724Ter) c.1036G>T (p.Gly346Ter) n.2413G>T | |
2 | g.227280492G>A | CA350849085 | COL4A3,MFF-DT | c.2276G>A (p.Gly759Glu) n.330-917C>T c.2171G>A (p.Gly724Glu) c.1037G>A (p.Gly346Glu) n.2414G>A | gnomAD v4 |
2 | g.227280492G>C | CA350849086 | COL4A3,MFF-DT | c.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 |
2 | g.227280492G= | CA1332849700 | COL4A3,MFF-DT | c.2276G= (p.Gly759=) n.330-917C= c.2171G= (p.Gly724=) c.1037G= (p.Gly346=) n.2414G= | |
2 | g.227280492G>T | CA350849087 | COL4A3,MFF-DT | c.2276G>T (p.Gly759Val) n.330-917C>A c.2171G>T (p.Gly724Val) c.1037G>T (p.Gly346Val) n.2414G>T | gnomAD v4 |