| 1 | g.152312601_152312608delinsACTGACTG | CA1146598331 | FLG | c.2278_2285delinsCAGTCAGT (p.Gln760=)
| |
| 1 | g.152312605_152312608del | CA126361 | FLG | c.2282_2285del (p.Ser761CysfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312605A= | CA2479952010 | FLG | c.2281T= (p.Ser761=)
| |
| 1 | g.152312605A>C | CA342090737 | FLG | c.2281T>G (p.Ser761Ala)
| |
| 1 | g.152312605A>G | CA342090739 | FLG | c.2281T>C (p.Ser761Pro)
| dbSNP gnomAD v4 |
| 1 | g.152312605A>T | CA342090740 | FLG | c.2281T>A (p.Ser761Thr)
| |
| 1 | g.152312606C>A | CA342090743 | FLG | c.2280G>T (p.Gln760His)
| dbSNP gnomAD v2 |
| 1 | g.152312606C= | CA1142015898 | FLG | c.2280G= (p.Gln760=)
| |
| 1 | g.152312606C>G | CA1107254 | FLG | c.2280G>C (p.Gln760His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312606C>T | CA1107255 | FLG | c.2280G>A (p.Gln760=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312607T>A | CA342090749 | FLG | c.2279A>T (p.Gln760Leu)
| gnomAD v4 |
| 1 | g.152312607T>C | CA342090750 | FLG | c.2279A>G (p.Gln760Arg)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152312607T>G | CA342090753 | FLG | c.2279A>C (p.Gln760Pro)
| |
| 1 | g.152312607T= | CA2479952011 | FLG | c.2279A= (p.Gln760=)
| |
| 1 | g.152312612_152312613del | CA2647993846 | FLG | c.2278_2279del (p.Gln760ValfsTer21)
| gnomAD v4 |
| 1 | g.152312608G>A | CA342090761 | FLG | c.2278C>T (p.Gln760Ter)
| |
| 1 | g.152312608G>C | CA342090758 | FLG | c.2278C>G (p.Gln760Glu)
| |
| 1 | g.152312608G>T | CA342090755 | FLG | c.2278C>A (p.Gln760Lys)
| |
| 1 | g.152312609T>A | CA420930939 | FLG | c.2277A>T (p.Thr759=)
| |
| 1 | g.152312609T>C | CA420930937 | FLG | c.2277A>G (p.Thr759=)
| |
| 1 | g.152312609T>G | CA420930938 | FLG | c.2277A>C (p.Thr759=)
| |
| 1 | g.152312610G>A | CA342090763 | FLG | c.2276C>T (p.Thr759Ile)
| |
| 1 | g.152312610G>C | CA342090762 | FLG | c.2276C>G (p.Thr759Arg)
| |
| 1 | g.152312610G>T | CA342090764 | FLG | c.2276C>A (p.Thr759Lys)
| |
| 1 | g.152312611T>A | CA342090765 | FLG | c.2275A>T (p.Thr759Ser)
| |
| 1 | g.152312611T>C | CA342090767 | FLG | c.2275A>G (p.Thr759Ala)
| COSMIC |
| 1 | g.152312611T>G | CA342090770 | FLG | c.2275A>C (p.Thr759Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312611T= | CA2479952012 | FLG | c.2275A= (p.Thr759=)
| |
| 1 | g.152312612G>A | CA420930940 | FLG | c.2274C>T (p.Asp758=)
| dbSNP gnomAD v4 |
| 1 | g.152312612G>C | CA342090774 | FLG | c.2274C>G (p.Asp758Glu)
| |
| 1 | g.152312612G= | CA2479952013 | FLG | c.2274C= (p.Asp758=)
| |
| 1 | g.152312612G>T | CA342090776 | FLG | c.2274C>A (p.Asp758Glu)
| |
| 1 | g.152312613T>A | CA342090782 | FLG | c.2273A>T (p.Asp758Val)
| |
| 1 | g.152312613T>C | CA342090780 | FLG | c.2273A>G (p.Asp758Gly)
| |
| 1 | g.152312613T>G | CA342090778 | FLG | c.2273A>C (p.Asp758Ala)
| |
| 1 | g.152312614C>A | CA342090785 | FLG | c.2272G>T (p.Asp758Tyr)
| |
| 1 | g.152312614C= | CA2479952014 | FLG | c.2272G= (p.Asp758=)
| |
| 1 | g.152312614C>G | CA342090787 | FLG | c.2272G>C (p.Asp758His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312614C>T | CA342090788 | FLG | c.2272G>A (p.Asp758Asn)
| gnomAD v4 |
| 1 | g.152312615T>A | CA420930941 | FLG | c.2271A>T (p.Ser757=)
| |
| 1 | g.152312615T>C | CA420930942 | FLG | c.2271A>G (p.Ser757=)
| |
| 1 | g.152312615T>G | CA420930943 | FLG | c.2271A>C (p.Ser757=)
| |
| 1 | g.152312616G>A | CA342090791 | FLG | c.2270C>T (p.Ser757Leu)
| |
| 1 | g.152312616G>C | CA1107256 | FLG | c.2270C>G (p.Ser757Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312616G= | CA2479952015 | FLG | c.2270C= (p.Ser757=)
| |
| 1 | g.152312616G>T | CA342090794 | FLG | c.2270C>A (p.Ser757Ter)
| dbSNP gnomAD v4 |
| 1 | g.152312617A>C | CA342090796 | FLG | c.2269T>G (p.Ser757Ala)
| |
| 1 | g.152312617A>G | CA342090801 | FLG | c.2269T>C (p.Ser757Pro)
| |
| 1 | g.152312617A>T | CA342090798 | FLG | c.2269T>A (p.Ser757Thr)
| gnomAD v4 COSMIC |
| 1 | g.152312618G>A | CA1107257 | FLG | c.2268C>T (p.Asp756=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312618G>C | CA1107258 | FLG | c.2268C>G (p.Asp756Glu)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152312618G= | CA2479952016 | FLG | c.2268C= (p.Asp756=)
| |
| 1 | g.152312618G>T | CA1107259 | FLG | c.2268C>A (p.Asp756Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312619T>A | CA342090809 | FLG | c.2267A>T (p.Asp756Val)
| |
| 1 | g.152312619T>C | CA342090811 | FLG | c.2267A>G (p.Asp756Gly)
| |
| 1 | g.152312619T>G | CA342090813 | FLG | c.2267A>C (p.Asp756Ala)
| gnomAD v4 |
| 1 | g.152312620C>A | CA342090816 | FLG | c.2266G>T (p.Asp756Tyr)
| |
| 1 | g.152312620C= | CA2479952017 | FLG | c.2266G= (p.Asp756=)
| |
| 1 | g.152312620C>G | CA342090818 | FLG | c.2266G>C (p.Asp756His)
| gnomAD v4 |
| 1 | g.152312620C>T | CA342090820 | FLG | c.2266G>A (p.Asp756Asn)
| dbSNP |
| 1 | g.152312621T>A | CA342090823 | FLG | c.2265A>T (p.Glu755Asp)
| |
| 1 | g.152312621T>C | CA420930944 | FLG | c.2265A>G (p.Glu755=)
| gnomAD v3 gnomAD v4 |
| 1 | g.152312621T>G | CA342090824 | FLG | c.2265A>C (p.Glu755Asp)
| |
| 1 | g.152312622T>A | CA342090828 | FLG | c.2264A>T (p.Glu755Val)
| |
| 1 | g.152312622T>C | CA342090832 | FLG | c.2264A>G (p.Glu755Gly)
| |
| 1 | g.152312622T>G | CA342090830 | FLG | c.2264A>C (p.Glu755Ala)
| |
| 1 | g.152312623del | CA2647993856 | FLG | c.2263del (p.Glu755LysfsTer?)
| gnomAD v4 |
| 1 | g.152312623C>A | CA342090835 | FLG | c.2263G>T (p.Glu755Ter)
| |
| 1 | g.152312623C= | CA1140876383 | FLG | c.2263G= (p.Glu755=)
| |
| 1 | g.152312623C>G | CA342090837 | FLG | c.2263G>C (p.Glu755Gln)
| dbSNP |
| 1 | g.152312623C>T | CA1107260 | FLG | c.2263G>A (p.Glu755Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312624T>A | CA420930945 | FLG | c.2262A>T (p.Ser754=)
| |
| 1 | g.152312624T>C | CA420930946 | FLG | c.2262A>G (p.Ser754=)
| gnomAD v4 |
| 1 | g.152312624T>G | CA420930947 | FLG | c.2262A>C (p.Ser754=)
| |
| 1 | g.152312625G>A | CA342090841 | FLG | c.2261C>T (p.Ser754Leu)
| |
| 1 | g.152312625G>C | CA342090844 | FLG | c.2261C>G (p.Ser754Ter)
| |
| 1 | g.152312625G>T | CA342090846 | FLG | c.2261C>A (p.Ser754Ter)
| |
| 1 | g.152312626A>C | CA342090849 | FLG | c.2260T>G (p.Ser754Ala)
| |
| 1 | g.152312626A>G | CA342090851 | FLG | c.2260T>C (p.Ser754Pro)
| |
| 1 | g.152312626A>T | CA342090854 | FLG | c.2260T>A (p.Ser754Thr)
| gnomAD v3 gnomAD v4 |
| 1 | g.152312627A= | CA2479952019 | FLG | c.2259T= (p.His753=)
| |
| 1 | g.152312627A>C | CA342090857 | FLG | c.2259T>G (p.His753Gln)
| |
| 1 | g.152312627A>G | CA1107261 | FLG | c.2259T>C (p.His753=)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152312627A>T | CA342090860 | FLG | c.2259T>A (p.His753Gln)
| |
| 1 | g.152312627_152312628delinsAT | CA2479952018 | FLG | c.2258_2259delinsAT (p.His753=)
| |
| 1 | g.152312628del | CA2479952020 | FLG | c.2258del (p.His753LeufsTer?)
| dbSNP |
| 1 | g.152312628T>A | CA342090867 | FLG | c.2258A>T (p.His753Leu)
| |
| 1 | g.152312628T>C | CA342090864 | FLG | c.2258A>G (p.His753Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312628T>G | CA342090865 | FLG | c.2258A>C (p.His753Pro)
| |
| 1 | g.152312628T= | CA2479952021 | FLG | c.2258A= (p.His753=)
| |
| 1 | g.152312629G>A | CA342090870 | FLG | c.2257C>T (p.His753Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312629G>C | CA342090871 | FLG | c.2257C>G (p.His753Asp)
| gnomAD v4 |
| 1 | g.152312629G= | CA2479952022 | FLG | c.2257C= (p.His753=)
| |
| 1 | g.152312629G>T | CA342090873 | FLG | c.2257C>A (p.His753Asn)
| gnomAD v4 |
| 1 | g.152312630T>A | CA420930948 | FLG | c.2256A>T (p.Gly752=)
| |
| 1 | g.152312630T>C | CA420930949 | FLG | c.2256A>G (p.Gly752=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312630T>G | CA420930950 | FLG | c.2256A>C (p.Gly752=)
| |
| 1 | g.152312630T= | CA2479952023 | FLG | c.2256A= (p.Gly752=)
| |
| 1 | g.152312631C>A | CA342090877 | FLG | c.2255G>T (p.Gly752Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312631C= | CA2479952024 | FLG | c.2255G= (p.Gly752=)
| |
| 1 | g.152312631C>G | CA342090879 | FLG | c.2255G>C (p.Gly752Ala)
| |
| 1 | g.152312631C>T | CA342090881 | FLG | c.2255G>A (p.Gly752Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312632C>A | CA342090884 | FLG | c.2254G>T (p.Gly752Ter)
| |
| 1 | g.152312632C= | CA2479952025 | FLG | c.2254G= (p.Gly752=)
| |
| 1 | g.152312632C>G | CA342090886 | FLG | c.2254G>C (p.Gly752Arg)
| |
| 1 | g.152312632C>T | CA342090888 | FLG | c.2254G>A (p.Gly752Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312633C>A | CA342090891 | FLG | c.2253G>T (p.Glu751Asp)
| |
| 1 | g.152312633C= | CA2479952026 | FLG | c.2253G= (p.Glu751=)
| |
| 1 | g.152312633C>G | CA342090893 | FLG | c.2253G>C (p.Glu751Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312633C>T | CA30562497 | FLG | c.2253G>A (p.Glu751=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312635_152312638del | CA2573905226 | FLG | c.2250_2253del (p.Ser750ArgfsTer?)
| |
| 1 | g.152312634T>A | CA342090897 | FLG | c.2252A>T (p.Glu751Val)
| |
| 1 | g.152312634T>C | CA342090899 | FLG | c.2252A>G (p.Glu751Gly)
| |
| 1 | g.152312634T>G | CA342090896 | FLG | c.2252A>C (p.Glu751Ala)
| |
| 1 | g.152312635C>A | CA342090904 | FLG | c.2251G>T (p.Glu751Ter)
| dbSNP |
| 1 | g.152312635C= | CA2479952027 | FLG | c.2251G= (p.Glu751=)
| |
| 1 | g.152312635C>G | CA342090902 | FLG | c.2251G>C (p.Glu751Gln)
| |
| 1 | g.152312635C>T | CA1107262 | FLG | c.2251G>A (p.Glu751Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312636A= | CA2479952028 | FLG | c.2250T= (p.Ser750=)
| |
| 1 | g.152312636A>C | CA342090907 | FLG | c.2250T>G (p.Ser750Arg)
| |
| 1 | g.152312636A>G | CA1107263 | FLG | c.2250T>C (p.Ser750=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312636A>T | CA342090910 | FLG | c.2250T>A (p.Ser750Arg)
| gnomAD v4 |
| 1 | g.152312637C>A | CA342090912 | FLG | c.2249G>T (p.Ser750Ile)
| |
| 1 | g.152312637C= | CA1142397319 | FLG | c.2249G= (p.Ser750=)
| |
| 1 | g.152312637C>G | CA342090913 | FLG | c.2249G>C (p.Ser750Thr)
| |
| 1 | g.152312637C>T | CA1107264 | FLG | c.2249G>A (p.Ser750Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312638T>A | CA342090915 | FLG | c.2248A>T (p.Ser750Cys)
| |
| 1 | g.152312638T>C | CA342090917 | FLG | c.2248A>G (p.Ser750Gly)
| gnomAD v4 |
| 1 | g.152312638T>G | CA342090919 | FLG | c.2248A>C (p.Ser750Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312638T= | CA2479952029 | FLG | c.2248A= (p.Ser750=)
| |
| 1 | g.152312639G>A | CA420930951 | FLG | c.2247C>T (p.Asp749=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312639G>C | CA342090923 | FLG | c.2247C>G (p.Asp749Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312639G= | CA2479952030 | FLG | c.2247C= (p.Asp749=)
| |
| 1 | g.152312639G>T | CA342090925 | FLG | c.2247C>A (p.Asp749Glu)
| |
| 1 | g.152312640T>A | CA342090938 | FLG | c.2246A>T (p.Asp749Val)
| |
| 1 | g.152312640T>C | CA342090928 | FLG | c.2246A>G (p.Asp749Gly)
| |
| 1 | g.152312640T>G | CA342090935 | FLG | c.2246A>C (p.Asp749Ala)
| |
| 1 | g.152312641C>A | CA342090941 | FLG | c.2245G>T (p.Asp749Tyr)
| |
| 1 | g.152312641C= | CA2479952031 | FLG | c.2245G= (p.Asp749=)
| |
| 1 | g.152312641C>G | CA342090944 | FLG | c.2245G>C (p.Asp749His)
| |
| 1 | g.152312641C>T | CA1107265 | FLG | c.2245G>A (p.Asp749Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312642A>C | CA420930952 | FLG | c.2244T>G (p.Thr748=)
| |
| 1 | g.152312642A>G | CA420930953 | FLG | c.2244T>C (p.Thr748=)
| |
| 1 | g.152312642A>T | CA420930954 | FLG | c.2244T>A (p.Thr748=)
| |
| 1 | g.152312643G>A | CA342090953 | FLG | c.2243C>T (p.Thr748Ile)
| dbSNP gnomAD v2 |
| 1 | g.152312643G>C | CA1107266 | FLG | c.2243C>G (p.Thr748Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312643G= | CA1143487942 | FLG | c.2243C= (p.Thr748=)
| |
| 1 | g.152312643G>T | CA342090955 | FLG | c.2243C>A (p.Thr748Asn)
| |
| 1 | g.152312644T>A | CA342090965 | FLG | c.2242A>T (p.Thr748Ser)
| |
| 1 | g.152312644T>C | CA342090967 | FLG | c.2242A>G (p.Thr748Ala)
| |
| 1 | g.152312644T>G | CA342090969 | FLG | c.2242A>C (p.Thr748Pro)
| |
| 1 | g.152312645G>A | CA420930955 | FLG | c.2241C>T (p.Ala747=)
| gnomAD v4 |
| 1 | g.152312645G>C | CA420930956 | FLG | c.2241C>G (p.Ala747=)
| |
| 1 | g.152312645G>T | CA420930957 | FLG | c.2241C>A (p.Ala747=)
| |
| 1 | g.152312646G>A | CA1107267 | FLG | c.2240C>T (p.Ala747Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312646G>C | CA342090970 | FLG | c.2240C>G (p.Ala747Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312646G= | CA2479952032 | FLG | c.2240C= (p.Ala747=)
| |
| 1 | g.152312646G>T | CA342090971 | FLG | c.2240C>A (p.Ala747Asp)
| dbSNP gnomAD v4 |
| 1 | g.152312647C>A | CA342090974 | FLG | c.2239G>T (p.Ala747Ser)
| |
| 1 | g.152312647C>G | CA342090973 | FLG | c.2239G>C (p.Ala747Pro)
| |
| 1 | g.152312647C>T | CA342090972 | FLG | c.2239G>A (p.Ala747Thr)
| |
| 1 | g.152312648del | CA2647993875 | FLG | c.2239del (p.Ala747ProfsTer?)
| gnomAD v4 |
| 1 | g.152312647_152312651delinsCCTGA | CA2479952033 | FLG | c.2235_2239delinsTCAGG (p.Ser745=)
| |
| 1 | g.152312648C>A | CA342090975 | FLG | c.2238G>T (p.Gln746His)
| |
| 1 | g.152312648C= | CA2479952034 | FLG | c.2238G= (p.Gln746=)
| |
| 1 | g.152312648C>G | CA342090976 | FLG | c.2238G>C (p.Gln746His)
| |
| 1 | g.152312648C>T | CA420930958 | FLG | c.2238G>A (p.Gln746=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312650_152312653del | CA1107268 | FLG | c.2235_2238del (p.Ser745ArgfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312649del | CA2647993876 | FLG | c.2237del (p.Gln746ArgfsTer?)
| gnomAD v4 |
| 1 | g.152312649T>A | CA342090977 | FLG | c.2237A>T (p.Gln746Leu)
| |
| 1 | g.152312649T>C | CA342090978 | FLG | c.2237A>G (p.Gln746Arg)
| |
| 1 | g.152312649T>G | CA342090979 | FLG | c.2237A>C (p.Gln746Pro)
| |
| 1 | g.152312650G>A | CA342090980 | FLG | c.2236C>T (p.Gln746Ter)
| |
| 1 | g.152312650G>C | CA1107270 | FLG | c.2236C>G (p.Gln746Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312650G= | CA1143292552 | FLG | c.2236C= (p.Gln746=)
| |
| 1 | g.152312650G>T | CA1107269 | FLG | c.2236C>A (p.Gln746Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312651A= | CA1142346681 | FLG | c.2235T= (p.Ser745=)
| |
| 1 | g.152312651A>C | CA342090983 | FLG | c.2235T>G (p.Ser745Arg)
| |
| 1 | g.152312651A>G | CA1107271 | FLG | c.2235T>C (p.Ser745=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312651A>T | CA342090988 | FLG | c.2235T>A (p.Ser745Arg)
| |
| 1 | g.152312652C>A | CA342090992 | FLG | c.2234G>T (p.Ser745Ile)
| |
| 1 | g.152312652C= | CA2479952035 | FLG | c.2234G= (p.Ser745=)
| |
| 1 | g.152312652C>G | CA342090993 | FLG | c.2234G>C (p.Ser745Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312652C>T | CA342090991 | FLG | c.2234G>A (p.Ser745Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312653T>A | CA342090995 | FLG | c.2233A>T (p.Ser745Cys)
| |
| 1 | g.152312653T>C | CA342090997 | FLG | c.2233A>G (p.Ser745Gly)
| |
| 1 | g.152312653T>G | CA342090999 | FLG | c.2233A>C (p.Ser745Arg)
| |
| 1 | g.152312654A= | CA2479952036 | FLG | c.2232T= (p.Gly744=)
| |
| 1 | g.152312654A>C | CA420930959 | FLG | c.2232T>G (p.Gly744=)
| |
| 1 | g.152312654A>G | CA420930960 | FLG | c.2232T>C (p.Gly744=)
| dbSNP gnomAD v4 |
| 1 | g.152312654A>T | CA420930961 | FLG | c.2232T>A (p.Gly744=)
| |
| 1 | g.152312655C>A | CA342091001 | FLG | c.2231G>T (p.Gly744Val)
| |
| 1 | g.152312655C= | CA2479952037 | FLG | c.2231G= (p.Gly744=)
| |
| 1 | g.152312655C>G | CA342091002 | FLG | c.2231G>C (p.Gly744Ala)
| |
| 1 | g.152312655C>T | CA342091003 | FLG | c.2231G>A (p.Gly744Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312656C>A | CA342091004 | FLG | c.2230G>T (p.Gly744Cys)
| |
| 1 | g.152312656C= | CA2479952038 | FLG | c.2230G= (p.Gly744=)
| |
| 1 | g.152312656C>G | CA342091006 | FLG | c.2230G>C (p.Gly744Arg)
| |
| 1 | g.152312656C>T | CA1107272 | FLG | c.2230G>A (p.Gly744Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312657A= | CA1148259600 | FLG | c.2229T= (p.Ser743=)
| |
| 1 | g.152312657A>C | CA342091008 | FLG | c.2229T>G (p.Ser743Arg)
| |
| 1 | g.152312657A>G | CA420930962 | FLG | c.2229T>C (p.Ser743=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312657A>T | CA1107273 | FLG | c.2229T>A (p.Ser743Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312658C>A | CA342091012 | FLG | c.2228G>T (p.Ser743Ile)
| |
| 1 | g.152312658C>G | CA342091017 | FLG | c.2228G>C (p.Ser743Thr)
| gnomAD v4 |
| 1 | g.152312658C>T | CA342091020 | FLG | c.2228G>A (p.Ser743Asn)
| |
| 1 | g.152312659T>A | CA342091023 | FLG | c.2227A>T (p.Ser743Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312659T>C | CA342091024 | FLG | c.2227A>G (p.Ser743Gly)
| COSMIC |
| 1 | g.152312659T>G | CA342091022 | FLG | c.2227A>C (p.Ser743Arg)
| |
| 1 | g.152312659T= | CA2479952039 | FLG | c.2227A= (p.Ser743=)
| |
| 1 | g.152312660G>A | CA420930965 | FLG | c.2226C>T (p.Ser742=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312660G>C | CA420930966 | FLG | c.2226C>G (p.Ser742=)
| |
| 1 | g.152312660G= | CA2479952040 | FLG | c.2226C= (p.Ser742=)
| |
| 1 | g.152312660G>T | CA420930967 | FLG | c.2226C>A (p.Ser742=)
| |
| 1 | g.152312661G>A | CA342091027 | FLG | c.2225C>T (p.Ser742Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312661G>C | CA342091030 | FLG | c.2225C>G (p.Ser742Cys)
| |
| 1 | g.152312661G= | CA1139986952 | FLG | c.2225C= (p.Ser742=)
| |
| 1 | g.152312661G>T | CA1107274 | FLG | c.2225C>A (p.Ser742Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312662A= | CA2479952041 | FLG | c.2224T= (p.Ser742=)
| |
| 1 | g.152312662A>C | CA342091033 | FLG | c.2224T>G (p.Ser742Ala)
| |
| 1 | g.152312662A>G | CA1107275 | FLG | c.2224T>C (p.Ser742Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312662A>T | CA342091037 | FLG | c.2224T>A (p.Ser742Thr)
| |
| 1 | g.152312663C>A | CA420930969 | FLG | c.2223G>T (p.Gly741=)
| gnomAD v4 |
| 1 | g.152312663C>G | CA420930970 | FLG | c.2223G>C (p.Gly741=)
| |
| 1 | g.152312663C>T | CA420930968 | FLG | c.2223G>A (p.Gly741=)
| gnomAD v4 |
| 1 | g.152312664C>A | CA342091042 | FLG | c.2222G>T (p.Gly741Val)
| gnomAD v4 |
| 1 | g.152312664C>G | CA342091046 | FLG | c.2222G>C (p.Gly741Ala)
| |
| 1 | g.152312664C>T | CA342091045 | FLG | c.2222G>A (p.Gly741Glu)
| gnomAD v4 COSMIC |
| 1 | g.152312665C>A | CA342091051 | FLG | c.2221G>T (p.Gly741Trp)
| |
| 1 | g.152312665C>G | CA342091055 | FLG | c.2221G>C (p.Gly741Arg)
| |
| 1 | g.152312665C>T | CA342091053 | FLG | c.2221G>A (p.Gly741Arg)
| gnomAD v4 |
| 1 | g.152312666T>A | CA420930973 | FLG | c.2220A>T (p.Arg740=)
| |
| 1 | g.152312666T>C | CA1107276 | FLG | c.2220A>G (p.Arg740=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312666T>G | CA420930972 | FLG | c.2220A>C (p.Arg740=)
| |
| 1 | g.152312666T= | CA2479952042 | FLG | c.2220A= (p.Arg740=)
| |
| 1 | g.152312667C>A | CA342091062 | FLG | c.2219G>T (p.Arg740Leu)
| COSMIC |
| 1 | g.152312667C= | CA2479952043 | FLG | c.2219G= (p.Arg740=)
| |
| 1 | g.152312667C>G | CA342091064 | FLG | c.2219G>C (p.Arg740Pro)
| |
| 1 | g.152312667C>T | CA1107277 | FLG | c.2219G>A (p.Arg740Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312668G>A | CA1107278 | FLG | c.2218C>T (p.Arg740Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312668G>C | CA342091070 | FLG | c.2218C>G (p.Arg740Gly)
| |
| 1 | g.152312668G= | CA2479952044 | FLG | c.2218C= (p.Arg740=)
| |
| 1 | g.152312668G>T | CA420930977 | FLG | c.2218C>A (p.Arg740=)
| gnomAD v4 |
| 1 | g.152312669G>A | CA420930978 | FLG | c.2217C>T (p.His739=)
| |
| 1 | g.152312669G>C | CA342091075 | FLG | c.2217C>G (p.His739Gln)
| |
| 1 | g.152312669G>T | CA342091082 | FLG | c.2217C>A (p.His739Gln)
| |
| 1 | g.152312670T>A | CA342091083 | FLG | c.2216A>T (p.His739Leu)
| |
| 1 | g.152312670T>C | CA1107279 | FLG | c.2216A>G (p.His739Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312670T>G | CA342091088 | FLG | c.2216A>C (p.His739Pro)
| |
| 1 | g.152312670T= | CA2479952045 | FLG | c.2216A= (p.His739=)
| |
| 1 | g.152312671G>A | CA342091098 | FLG | c.2215C>T (p.His739Tyr)
| |
| 1 | g.152312671G>C | CA342091093 | FLG | c.2215C>G (p.His739Asp)
| |
| 1 | g.152312671G>T | CA342091095 | FLG | c.2215C>A (p.His739Asn)
| |
| 1 | g.152312672T>A | CA1107280 | FLG | c.2214A>T (p.Gly738=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312672T>C | CA420930981 | FLG | c.2214A>G (p.Gly738=)
| |
| 1 | g.152312672T>G | CA420930982 | FLG | c.2214A>C (p.Gly738=)
| |
| 1 | g.152312672T= | CA2479952046 | FLG | c.2214A= (p.Gly738=)
| |
| 1 | g.152312673C>A | CA342091100 | FLG | c.2213G>T (p.Gly738Val)
| |
| 1 | g.152312673C>G | CA342091101 | FLG | c.2213G>C (p.Gly738Ala)
| COSMIC |
| 1 | g.152312673C>T | CA342091103 | FLG | c.2213G>A (p.Gly738Glu)
| gnomAD v4 |
| 1 | g.152312674C>A | CA342091105 | FLG | c.2212G>T (p.Gly738Ter)
| |
| 1 | g.152312674C= | CA1147609271 | FLG | c.2212G= (p.Gly738=)
| |
| 1 | g.152312674C>G | CA342091107 | FLG | c.2212G>C (p.Gly738Arg)
| gnomAD v4 |
| 1 | g.152312674C>T | CA1107281 | FLG | c.2212G>A (p.Gly738Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312675A= | CA2479952047 | FLG | c.2211T= (p.Ser737=)
| |
| 1 | g.152312675A>C | CA342091110 | FLG | c.2211T>G (p.Ser737Arg)
| gnomAD v4 |
| 1 | g.152312675A>G | CA1107282 | FLG | c.2211T>C (p.Ser737=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312675A>T | CA342091115 | FLG | c.2211T>A (p.Ser737Arg)
| |
| 1 | g.152312676C>A | CA342091125 | FLG | c.2210G>T (p.Ser737Ile)
| |
| 1 | g.152312676C= | CA2479952048 | FLG | c.2210G= (p.Ser737=)
| |
| 1 | g.152312676C>G | CA342091121 | FLG | c.2210G>C (p.Ser737Thr)
| dbSNP |
| 1 | g.152312676C>T | CA342091119 | FLG | c.2210G>A (p.Ser737Asn)
| gnomAD v4 |
| 1 | g.152312677T>A | CA342091129 | FLG | c.2209A>T (p.Ser737Cys)
| |
| 1 | g.152312677T>C | CA342091132 | FLG | c.2209A>G (p.Ser737Gly)
| |
| 1 | g.152312677T>G | CA342091135 | FLG | c.2209A>C (p.Ser737Arg)
| |
| 1 | g.152312678G>A | CA420930986 | FLG | c.2208C>T (p.Asp736=)
| |
| 1 | g.152312678G>C | CA1107283 | FLG | c.2208C>G (p.Asp736Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312678G= | CA1143869554 | FLG | c.2208C= (p.Asp736=)
| |
| 1 | g.152312678G>T | CA342091140 | FLG | c.2208C>A (p.Asp736Glu)
| |
| 1 | g.152312679T>A | CA342091143 | FLG | c.2207A>T (p.Asp736Val)
| |
| 1 | g.152312679T>C | CA30562688 | FLG | c.2207A>G (p.Asp736Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312679T>G | CA342091147 | FLG | c.2207A>C (p.Asp736Ala)
| |
| 1 | g.152312679T= | CA2479952049 | FLG | c.2207A= (p.Asp736=)
| |
| 1 | g.152312682_152312683del | CA2573905271 | FLG | c.2206_2207del (p.Asp736GlnfsTer9)
| |
| 1 | g.152312680C>A | CA342091152 | FLG | c.2206G>T (p.Asp736Tyr)
| |
| 1 | g.152312680C= | CA2479952050 | FLG | c.2206G= (p.Asp736=)
| |
| 1 | g.152312680C>G | CA342091154 | FLG | c.2206G>C (p.Asp736His)
| |
| 1 | g.152312680C>T | CA342091156 | FLG | c.2206G>A (p.Asp736Asn)
| dbSNP gnomAD v2 |
| 1 | g.152312681T>A | CA342091161 | FLG | c.2205A>T (p.Arg735Ser)
| |
| 1 | g.152312681T>C | CA420930988 | FLG | c.2205A>G (p.Arg735=)
| |
| 1 | g.152312681T>G | CA342091163 | FLG | c.2205A>C (p.Arg735Ser)
| |
| 1 | g.152312681_152312685delinsTCTGA | CA2479952051 | FLG | c.2201_2205delinsTCAGA (p.Val734=)
| |
| 1 | g.152312682C>A | CA342091169 | FLG | c.2204G>T (p.Arg735Ile)
| dbSNP gnomAD v4 |
| 1 | g.152312682C= | CA2479952052 | FLG | c.2204G= (p.Arg735=)
| |
| 1 | g.152312682C>G | CA342091176 | FLG | c.2204G>C (p.Arg735Thr)
| gnomAD v4 |
| 1 | g.152312682C>T | CA342091174 | FLG | c.2204G>A (p.Arg735Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312685_152312688del | CA1107284 | FLG | c.2201_2204del (p.Val734GlufsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312683T>A | CA342091178 | FLG | c.2203A>T (p.Arg735Ter)
| |
| 1 | g.152312683T>C | CA342091181 | FLG | c.2203A>G (p.Arg735Gly)
| gnomAD v4 |
| 1 | g.152312683T>G | CA420930991 | FLG | c.2203A>C (p.Arg735=)
| |
| 1 | g.152312684G>A | CA420930992 | FLG | c.2202C>T (p.Val734=)
| dbSNP |
| 1 | g.152312684G>C | CA1107285 | FLG | c.2202C>G (p.Val734=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312684G= | CA2479952053 | FLG | c.2202C= (p.Val734=)
| |
| 1 | g.152312684G>T | CA420930993 | FLG | c.2202C>A (p.Val734=)
| |
| 1 | g.152312685A= | CA2479952054 | FLG | c.2201T= (p.Val734=)
| |
| 1 | g.152312685A>C | CA342091185 | FLG | c.2201T>G (p.Val734Gly)
| |
| 1 | g.152312685A>G | CA1107286 | FLG | c.2201T>C (p.Val734Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312685A>T | CA342091190 | FLG | c.2201T>A (p.Val734Asp)
| |
| 1 | g.152312686C>A | CA342091193 | FLG | c.2200G>T (p.Val734Phe)
| |
| 1 | g.152312686C= | CA1141611990 | FLG | c.2200G= (p.Val734=)
| |
| 1 | g.152312686C>G | CA342091197 | FLG | c.2200G>C (p.Val734Leu)
| |
| 1 | g.152312686C>T | CA1107287 | FLG | c.2200G>A (p.Val734Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312687T>A | CA420930997 | FLG | c.2199A>T (p.Ala733=)
| |
| 1 | g.152312687T>C | CA1107288 | FLG | c.2199A>G (p.Ala733=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312687T>G | CA420930998 | FLG | c.2199A>C (p.Ala733=)
| |
| 1 | g.152312687T= | CA1143472839 | FLG | c.2199A= (p.Ala733=)
| |
| 1 | g.152312688G>A | CA342091209 | FLG | c.2198C>T (p.Ala733Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312688G>C | CA342091206 | FLG | c.2198C>G (p.Ala733Gly)
| |
| 1 | g.152312688G= | CA2479952055 | FLG | c.2198C= (p.Ala733=)
| |
| 1 | g.152312688G>T | CA342091212 | FLG | c.2198C>A (p.Ala733Glu)
| gnomAD v4 |
| 1 | g.152312689C>A | CA342091215 | FLG | c.2197G>T (p.Ala733Ser)
| |
| 1 | g.152312689C= | CA2479952056 | FLG | c.2197G= (p.Ala733=)
| |
| 1 | g.152312689C>G | CA1107290 | FLG | c.2197G>C (p.Ala733Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312689C>T | CA1107289 | FLG | c.2197G>A (p.Ala733Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312690A>C | CA420931003 | FLG | c.2196T>G (p.Ser732=)
| |
| 1 | g.152312690A>G | CA420931002 | FLG | c.2196T>C (p.Ser732=)
| |
| 1 | g.152312690A>T | CA420931001 | FLG | c.2196T>A (p.Ser732=)
| gnomAD v4 |
| 1 | g.152312691G>A | CA342091224 | FLG | c.2195C>T (p.Ser732Phe)
| COSMIC |
| 1 | g.152312691G>C | CA342091226 | FLG | c.2195C>G (p.Ser732Cys)
| |
| 1 | g.152312691G>T | CA342091228 | FLG | c.2195C>A (p.Ser732Tyr)
| |
| 1 | g.152312692A>C | CA342091234 | FLG | c.2194T>G (p.Ser732Ala)
| |
| 1 | g.152312692A>G | CA342091236 | FLG | c.2194T>C (p.Ser732Pro)
| gnomAD v4 |
| 1 | g.152312692A>T | CA342091238 | FLG | c.2194T>A (p.Ser732Thr)
| |
| 1 | g.152312693T>A | CA1107291 | FLG | c.2193A>T (p.Ser731=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312693T>C | CA420931005 | FLG | c.2193A>G (p.Ser731=)
| gnomAD v4 |
| 1 | g.152312693T>G | CA420931006 | FLG | c.2193A>C (p.Ser731=)
| gnomAD v4 |
| 1 | g.152312693T= | CA1148265404 | FLG | c.2193A= (p.Ser731=)
| |
| 1 | g.152312694G>A | CA1107292 | FLG | c.2192C>T (p.Ser731Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312694G>C | CA342091245 | FLG | c.2192C>G (p.Ser731Ter)
| |
| 1 | g.152312694G= | CA2479952057 | FLG | c.2192C= (p.Ser731=)
| |
| 1 | g.152312694G>T | CA342091243 | FLG | c.2192C>A (p.Ser731Ter)
| |
| 1 | g.152312695A>C | CA342091251 | FLG | c.2191T>G (p.Ser731Ala)
| |
| 1 | g.152312695A>G | CA342091253 | FLG | c.2191T>C (p.Ser731Pro)
| |
| 1 | g.152312695A>T | CA342091255 | FLG | c.2191T>A (p.Ser731Thr)
| |
| 1 | g.152312695_152312700delinsAAGCTT | CA2479952058 | FLG | c.2186_2191delinsAAGCTT (p.Gln729=)
| |
| 1 | g.152312696A>C | CA420931008 | FLG | c.2190T>G (p.Ala730=)
| |
| 1 | g.152312696A>G | CA420931010 | FLG | c.2190T>C (p.Ala730=)
| |
| 1 | g.152312696A>T | CA420931009 | FLG | c.2190T>A (p.Ala730=)
| |
| 1 | g.152312696_152312700del | CA1107293 | FLG | c.2186_2190del (p.Gln729LeufsTer15)
| dbSNP ExAC |
| 1 | g.152312697G>A | CA342091263 | FLG | c.2189C>T (p.Ala730Val)
| gnomAD v4 COSMIC |
| 1 | g.152312697G>C | CA342091265 | FLG | c.2189C>G (p.Ala730Gly)
| |
| 1 | g.152312697G= | CA2479952059 | FLG | c.2189C= (p.Ala730=)
| |
| 1 | g.152312697G>T | CA342091267 | FLG | c.2189C>A (p.Ala730Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312698C>A | CA1107294 | FLG | c.2188G>T (p.Ala730Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312698C= | CA2479952060 | FLG | c.2188G= (p.Ala730=)
| |
| 1 | g.152312698C>G | CA342091272 | FLG | c.2188G>C (p.Ala730Pro)
| |
| 1 | g.152312698C>T | CA1107295 | FLG | c.2188G>A (p.Ala730Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312699T>A | CA342091276 | FLG | c.2187A>T (p.Gln729His)
| |
| 1 | g.152312699T>C | CA420931012 | FLG | c.2187A>G (p.Gln729=)
| |
| 1 | g.152312699T>G | CA342091280 | FLG | c.2187A>C (p.Gln729His)
| |
| 1 | g.152312700_152312706del | CA2647993883 | FLG | c.2181_2187del (p.His727GlnfsTer?)
| gnomAD v4 |
| 1 | g.152312700T>A | CA342091286 | FLG | c.2186A>T (p.Gln729Leu)
| |
| 1 | g.152312700T>C | CA342091289 | FLG | c.2186A>G (p.Gln729Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312700T>G | CA342091282 | FLG | c.2186A>C (p.Gln729Pro)
| |
| 1 | g.152312700T= | CA2479952061 | FLG | c.2186A= (p.Gln729=)
| |
| 1 | g.152312701G>A | CA1107296 | FLG | c.2185C>T (p.Gln729Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312701G>C | CA1107298 | FLG | c.2185C>G (p.Gln729Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312701G= | CA1145662289 | FLG | c.2185C= (p.Gln729=)
| |
| 1 | g.152312701G>T | CA1107297 | FLG | c.2185C>A (p.Gln729Lys)
| ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152312702T>A | CA420931014 | FLG | c.2184A>T (p.Gly728=)
| |
| 1 | g.152312702T>C | CA420931015 | FLG | c.2184A>G (p.Gly728=)
| |
| 1 | g.152312702T>G | CA420931016 | FLG | c.2184A>C (p.Gly728=)
| |
| 1 | g.152312703C>A | CA342091299 | FLG | c.2183G>T (p.Gly728Val)
| |
| 1 | g.152312703C>G | CA342091301 | FLG | c.2183G>C (p.Gly728Ala)
| gnomAD v4 |
| 1 | g.152312703C>T | CA342091302 | FLG | c.2183G>A (p.Gly728Glu)
| gnomAD v4 |
| 1 | g.152312703_152312705delinsCCG | CA2479952062 | FLG | c.2181_2183delinsCGG (p.His727=)
| |
| 1 | g.152312704C>A | CA342091305 | FLG | c.2182G>T (p.Gly728Ter)
| gnomAD v4 COSMIC |
| 1 | g.152312704C= | CA1141373182 | FLG | c.2182G= (p.Gly728=)
| |
| 1 | g.152312704C>G | CA342091307 | FLG | c.2182G>C (p.Gly728Arg)
| |
| 1 | g.152312704C>T | CA1107299 | FLG | c.2182G>A (p.Gly728Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312704_152312705del | CA2479952063 | FLG | c.2181_2182del (p.His727GlnfsTer18)
| dbSNP |
| 1 | g.152312705G>A | CA1107301 | FLG | c.2181C>T (p.His727=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312705G>C | CA1107302 | FLG | c.2181C>G (p.His727Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312705G= | CA1140122193 | FLG | c.2181C= (p.His727=)
| |
| 1 | g.152312705G>T | CA1107300 | FLG | c.2181C>A (p.His727Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
