1 | g.152307928_152307936delinsCATGGGATG | CA2479949389 | FLG | c.6950_6958delinsCATCCCATG (p.Ser2317=)
| |
1 | g.152307929_152307939delinsATGGGATGATG | CA1148116138 | FLG | c.6947_6957delinsCATCATCCCAT (p.Ala2316=)
| |
1 | g.152307932_152307939del | CA1104960 | FLG | c.6950_6957del (p.Ser2317Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307932G>A | CA420928847 | FLG | c.6954C>T (p.Ser2318=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307932G>C | CA30549318 | FLG | c.6954C>G (p.Ser2318=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307932G= | CA2479949394 | FLG | c.6954C= (p.Ser2318=)
| |
1 | g.152307932G>T | CA420928848 | FLG | c.6954C>A (p.Ser2318=)
| |
1 | g.152307933G>A | CA342049752 | FLG | c.6953C>T (p.Ser2318Phe)
| dbSNP gnomAD v4 |
1 | g.152307933G>C | CA342049753 | FLG | c.6953C>G (p.Ser2318Cys)
| |
1 | g.152307933G= | CA2479949395 | FLG | c.6953C= (p.Ser2318=)
| |
1 | g.152307933G>T | CA342049757 | FLG | c.6953C>A (p.Ser2318Tyr)
| |
1 | g.152307934A>C | CA342049761 | FLG | c.6952T>G (p.Ser2318Ala)
| |
1 | g.152307934A>G | CA342049766 | FLG | c.6952T>C (p.Ser2318Pro)
| gnomAD v4 |
1 | g.152307934A>T | CA342049764 | FLG | c.6952T>A (p.Ser2318Thr)
| |
1 | g.152307935T>A | CA420928852 | FLG | c.6951A>T (p.Ser2317=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307935T>C | CA420928853 | FLG | c.6951A>G (p.Ser2317=)
| |
1 | g.152307935T>G | CA420928856 | FLG | c.6951A>C (p.Ser2317=)
| |
1 | g.152307935T= | CA2479949396 | FLG | c.6951A= (p.Ser2317=)
| |
1 | g.152307936G>A | CA1104962 | FLG | c.6950C>T (p.Ser2317Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307936G>C | CA342049771 | FLG | c.6950C>G (p.Ser2317Ter)
| |
1 | g.152307936G= | CA1144863883 | FLG | c.6950C= (p.Ser2317=)
| |
1 | g.152307936G>T | CA342049773 | FLG | c.6950C>A (p.Ser2317Ter)
| |
1 | g.152307937A= | CA2479949397 | FLG | c.6949T= (p.Ser2317=)
| |
1 | g.152307937A>C | CA342049777 | FLG | c.6949T>G (p.Ser2317Ala)
| |
1 | g.152307937A>G | CA342049781 | FLG | c.6949T>C (p.Ser2317Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307937A>T | CA342049783 | FLG | c.6949T>A (p.Ser2317Thr)
| gnomAD v4 |
1 | g.152307938T>A | CA420928860 | FLG | c.6948A>T (p.Ala2316=)
| |
1 | g.152307938T>C | CA1104963 | FLG | c.6948A>G (p.Ala2316=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307938T>G | CA1104964 | FLG | c.6948A>C (p.Ala2316=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307938T= | CA1141871984 | FLG | c.6948A= (p.Ala2316=)
| |
1 | g.152307939G>A | CA342049794 | FLG | c.6947C>T (p.Ala2316Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307939G>C | CA342049797 | FLG | c.6947C>G (p.Ala2316Gly)
| |
1 | g.152307939G= | CA2479949398 | FLG | c.6947C= (p.Ala2316=)
| |
1 | g.152307939G>T | CA342049799 | FLG | c.6947C>A (p.Ala2316Glu)
| |
1 | g.152307940C>A | CA342049802 | FLG | c.6946G>T (p.Ala2316Ser)
| |
1 | g.152307940C= | CA2479949399 | FLG | c.6946G= (p.Ala2316=)
| |
1 | g.152307940C>G | CA342049804 | FLG | c.6946G>C (p.Ala2316Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307940C>T | CA342049807 | FLG | c.6946G>A (p.Ala2316Thr)
| COSMIC |
1 | g.152307941A= | CA1145876224 | FLG | c.6945T= (p.Ala2315=)
| |
1 | g.152307941A>C | CA420928864 | FLG | c.6945T>G (p.Ala2315=)
| |
1 | g.152307941A>G | CA420928865 | FLG | c.6945T>C (p.Ala2315=)
| |
1 | g.152307941A>T | CA1104965 | FLG | c.6945T>A (p.Ala2315=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307942G>A | CA342049813 | FLG | c.6944C>T (p.Ala2315Val)
| gnomAD v4 |
1 | g.152307942G>C | CA342049815 | FLG | c.6944C>G (p.Ala2315Gly)
| |
1 | g.152307942G>T | CA342049818 | FLG | c.6944C>A (p.Ala2315Asp)
| |
1 | g.152307943C>A | CA342049821 | FLG | c.6943G>T (p.Ala2315Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307943C= | CA2479949400 | FLG | c.6943G= (p.Ala2315=)
| |
1 | g.152307943C>G | CA342049823 | FLG | c.6943G>C (p.Ala2315Pro)
| |
1 | g.152307943C>T | CA1104966 | FLG | c.6943G>A (p.Ala2315Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307944C>A | CA342049828 | FLG | c.6942G>T (p.Gln2314His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307944C= | CA2479949401 | FLG | c.6942G= (p.Gln2314=)
| |
1 | g.152307944C>G | CA342049830 | FLG | c.6942G>C (p.Gln2314His)
| |
1 | g.152307944C>T | CA1104967 | FLG | c.6942G>A (p.Gln2314=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307945T>A | CA342049835 | FLG | c.6941A>T (p.Gln2314Leu)
| |
1 | g.152307945T>C | CA342049838 | FLG | c.6941A>G (p.Gln2314Arg)
| |
1 | g.152307945T>G | CA342049841 | FLG | c.6941A>C (p.Gln2314Pro)
| |
1 | g.152307946G>A | CA1104968 | FLG | c.6940C>T (p.Gln2314Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307946G>C | CA342049842 | FLG | c.6940C>G (p.Gln2314Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307946G= | CA2479949402 | FLG | c.6940C= (p.Gln2314=)
| |
1 | g.152307946G>T | CA342049844 | FLG | c.6940C>A (p.Gln2314Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307947T>A | CA420928870 | FLG | c.6939A>T (p.Gly2313=)
| |
1 | g.152307947T>C | CA420928871 | FLG | c.6939A>G (p.Gly2313=)
| COSMIC |
1 | g.152307947T>G | CA420928873 | FLG | c.6939A>C (p.Gly2313=)
| |
1 | g.152307948C>A | CA30549371 | FLG | c.6938G>T (p.Gly2313Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307948C= | CA2479949403 | FLG | c.6938G= (p.Gly2313=)
| |
1 | g.152307948C>G | CA342049851 | FLG | c.6938G>C (p.Gly2313Ala)
| |
1 | g.152307948C>T | CA342049853 | FLG | c.6938G>A (p.Gly2313Glu)
| gnomAD v4 |
1 | g.152307949C>A | CA1104969 | FLG | c.6937G>T (p.Gly2313Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307949C= | CA2479949404 | FLG | c.6937G= (p.Gly2313=)
| |
1 | g.152307949C>G | CA342049859 | FLG | c.6937G>C (p.Gly2313Arg)
| |
1 | g.152307949C>T | CA342049862 | FLG | c.6937G>A (p.Gly2313Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307950del | CA2647993500 | FLG | c.6936del (p.Gly2313AspfsTer?)
| gnomAD v4 |
1 | g.152307950A>C | CA420928881 | FLG | c.6936T>G (p.Gly2312=)
| |
1 | g.152307950A>G | CA420928879 | FLG | c.6936T>C (p.Gly2312=)
| gnomAD v4 COSMIC |
1 | g.152307950A>T | CA420928880 | FLG | c.6936T>A (p.Gly2312=)
| |
1 | g.152307951C>A | CA342049874 | FLG | c.6935G>T (p.Gly2312Val)
| gnomAD v4 |
1 | g.152307951C= | CA2479949405 | FLG | c.6935G= (p.Gly2312=)
| |
1 | g.152307951C>G | CA342049871 | FLG | c.6935G>C (p.Gly2312Ala)
| dbSNP gnomAD v4 |
1 | g.152307951C>T | CA342049866 | FLG | c.6935G>A (p.Gly2312Asp)
| gnomAD v4 |
1 | g.152307952C>A | CA342049880 | FLG | c.6934G>T (p.Gly2312Cys)
| |
1 | g.152307952C= | CA2479949406 | FLG | c.6934G= (p.Gly2312=)
| |
1 | g.152307952C>G | CA342049883 | FLG | c.6934G>C (p.Gly2312Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307952C>T | CA1104970 | FLG | c.6934G>A (p.Gly2312Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307953A>C | CA420928887 | FLG | c.6933T>G (p.Ser2311=)
| |
1 | g.152307953A>G | CA420928888 | FLG | c.6933T>C (p.Ser2311=)
| |
1 | g.152307953A>T | CA420928889 | FLG | c.6933T>A (p.Ser2311=)
| |
1 | g.152307954G>A | CA342049889 | FLG | c.6932C>T (p.Ser2311Phe)
| |
1 | g.152307954G>C | CA342049892 | FLG | c.6932C>G (p.Ser2311Cys)
| gnomAD v4 COSMIC |
1 | g.152307954G>T | CA342049895 | FLG | c.6932C>A (p.Ser2311Tyr)
| |
1 | g.152307955A= | CA2479949407 | FLG | c.6931T= (p.Ser2311=)
| |
1 | g.152307955A>C | CA342049896 | FLG | c.6931T>G (p.Ser2311Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307955A>G | CA342049901 | FLG | c.6931T>C (p.Ser2311Pro)
| |
1 | g.152307955A>T | CA342049900 | FLG | c.6931T>A (p.Ser2311Thr)
| gnomAD v4 |
1 | g.152307956G>A | CA420928890 | FLG | c.6930C>T (p.Ser2310=)
| dbSNP gnomAD v4 |
1 | g.152307956G>C | CA420928892 | FLG | c.6930C>G (p.Ser2310=)
| gnomAD v4 |
1 | g.152307956G= | CA2479949408 | FLG | c.6930C= (p.Ser2310=)
| |
1 | g.152307956G>T | CA420928895 | FLG | c.6930C>A (p.Ser2310=)
| |
1 | g.152307957G>A | CA342049904 | FLG | c.6929C>T (p.Ser2310Phe)
| gnomAD v4 COSMIC |
1 | g.152307957G>C | CA342049906 | FLG | c.6929C>G (p.Ser2310Cys)
| |
1 | g.152307957G= | CA2479949409 | FLG | c.6929C= (p.Ser2310=)
| |
1 | g.152307957G>T | CA342049907 | FLG | c.6929C>A (p.Ser2310Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307958A= | CA2479949410 | FLG | c.6928T= (p.Ser2310=)
| |
1 | g.152307958A>C | CA342049912 | FLG | c.6928T>G (p.Ser2310Ala)
| |
1 | g.152307958A>G | CA342049914 | FLG | c.6928T>C (p.Ser2310Pro)
| |
1 | g.152307958A>T | CA342049915 | FLG | c.6928T>A (p.Ser2310Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307958_152307960dup | CA1104971 | FLG | c.6926_6928dup (p.Asn2309_Ser2310insTyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307959A>C | CA342049919 | FLG | c.6927T>G (p.Asn2309Lys)
| |
1 | g.152307959A>G | CA420928896 | FLG | c.6927T>C (p.Asn2309=)
| gnomAD v4 |
1 | g.152307959A>T | CA342049921 | FLG | c.6927T>A (p.Asn2309Lys)
| gnomAD v4 |
1 | g.152307960T>A | CA342049923 | FLG | c.6926A>T (p.Asn2309Ile)
| gnomAD v4 |
1 | g.152307960T>C | CA342049925 | FLG | c.6926A>G (p.Asn2309Ser)
| |
1 | g.152307960T>G | CA1104972 | FLG | c.6926A>C (p.Asn2309Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307960T= | CA1143361227 | FLG | c.6926A= (p.Asn2309=)
| |
1 | g.152307961T>A | CA342049928 | FLG | c.6925A>T (p.Asn2309Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307961T>C | CA342049931 | FLG | c.6925A>G (p.Asn2309Asp)
| |
1 | g.152307961T>G | CA342049929 | FLG | c.6925A>C (p.Asn2309His)
| |
1 | g.152307961T= | CA2479949411 | FLG | c.6925A= (p.Asn2309=)
| |
1 | g.152307962C>A | CA342049933 | FLG | c.6924G>T (p.Glu2308Asp)
| gnomAD v4 |
1 | g.152307962C= | CA2479949412 | FLG | c.6924G= (p.Glu2308=)
| |
1 | g.152307962C>G | CA342049935 | FLG | c.6924G>C (p.Glu2308Asp)
| |
1 | g.152307962C>T | CA1104973 | FLG | c.6924G>A (p.Glu2308=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307963T>A | CA342049940 | FLG | c.6923A>T (p.Glu2308Val)
| |
1 | g.152307963T>C | CA342049941 | FLG | c.6923A>G (p.Glu2308Gly)
| |
1 | g.152307963T>G | CA342049943 | FLG | c.6923A>C (p.Glu2308Ala)
| |
1 | g.152307964C>A | CA342049945 | FLG | c.6922G>T (p.Glu2308Ter)
| |
1 | g.152307964C= | CA2479949413 | FLG | c.6922G= (p.Glu2308=)
| |
1 | g.152307964C>G | CA1104974 | FLG | c.6922G>C (p.Glu2308Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307964C>T | CA342049948 | FLG | c.6922G>A (p.Glu2308Lys)
| COSMIC |
1 | g.152307965T>A | CA420928909 | FLG | c.6921A>T (p.Ala2307=)
| |
1 | g.152307965T>C | CA420928905 | FLG | c.6921A>G (p.Ala2307=)
| gnomAD v4 |
1 | g.152307965T>G | CA420928906 | FLG | c.6921A>C (p.Ala2307=)
| |
1 | g.152307966G>A | CA342049949 | FLG | c.6920C>T (p.Ala2307Val)
| |
1 | g.152307966G>C | CA342049951 | FLG | c.6920C>G (p.Ala2307Gly)
| |
1 | g.152307966G= | CA2479949414 | FLG | c.6920C= (p.Ala2307=)
| |
1 | g.152307966G>T | CA342049953 | FLG | c.6920C>A (p.Ala2307Glu)
| dbSNP |
1 | g.152307967C>A | CA342049959 | FLG | c.6919G>T (p.Ala2307Ser)
| |
1 | g.152307967C= | CA1143459637 | FLG | c.6919G= (p.Ala2307=)
| |
1 | g.152307967C>G | CA342049957 | FLG | c.6919G>C (p.Ala2307Pro)
| |
1 | g.152307967C>T | CA1104975 | FLG | c.6919G>A (p.Ala2307Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307968A= | CA1141691280 | FLG | c.6918T= (p.His2306=)
| |
1 | g.152307968A>C | CA342049962 | FLG | c.6918T>G (p.His2306Gln)
| gnomAD v4 |
1 | g.152307968A>G | CA1104976 | FLG | c.6918T>C (p.His2306=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307968A>T | CA342049965 | FLG | c.6918T>A (p.His2306Gln)
| |
1 | g.152307969T>A | CA342049968 | FLG | c.6917A>T (p.His2306Leu)
| gnomAD v4 |
1 | g.152307969T>C | CA1104977 | FLG | c.6917A>G (p.His2306Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307969T>G | CA342049973 | FLG | c.6917A>C (p.His2306Pro)
| |
1 | g.152307969T= | CA2479949415 | FLG | c.6917A= (p.His2306=)
| |
1 | g.152307970G>A | CA342049976 | FLG | c.6916C>T (p.His2306Tyr)
| gnomAD v4 COSMIC |
1 | g.152307970G>C | CA342049977 | FLG | c.6916C>G (p.His2306Asp)
| |
1 | g.152307970G>T | CA342049980 | FLG | c.6916C>A (p.His2306Asn)
| |
1 | g.152307971A= | CA2479949416 | FLG | c.6915T= (p.His2305=)
| |
1 | g.152307971A>C | CA1104978 | FLG | c.6915T>G (p.His2305Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307971A>G | CA420928556 | FLG | c.6915T>C (p.His2305=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307971A>T | CA342049985 | FLG | c.6915T>A (p.His2305Gln)
| gnomAD v4 |
1 | g.152307972T>A | CA342049989 | FLG | c.6914A>T (p.His2305Leu)
| gnomAD v4 |
1 | g.152307972T>C | CA1104979 | FLG | c.6914A>G (p.His2305Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307972T>G | CA342049990 | FLG | c.6914A>C (p.His2305Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307972T= | CA2479949417 | FLG | c.6914A= (p.His2305=)
| |
1 | g.152307973G>A | CA342049993 | FLG | c.6913C>T (p.His2305Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307973G>C | CA342049997 | FLG | c.6913C>G (p.His2305Asp)
| |
1 | g.152307973G= | CA2479949418 | FLG | c.6913C= (p.His2305=)
| |
1 | g.152307973G>T | CA342049994 | FLG | c.6913C>A (p.His2305Asn)
| gnomAD v4 |
1 | g.152307974A>C | CA420928558 | FLG | c.6912T>G (p.Thr2304=)
| gnomAD v4 |
1 | g.152307974A>G | CA420928559 | FLG | c.6912T>C (p.Thr2304=)
| |
1 | g.152307974A>T | CA420928560 | FLG | c.6912T>A (p.Thr2304=)
| |
1 | g.152307975G>A | CA342050000 | FLG | c.6911C>T (p.Thr2304Ile)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152307975G>C | CA1104980 | FLG | c.6911C>G (p.Thr2304Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307975G= | CA1148305189 | FLG | c.6911C= (p.Thr2304=)
| |
1 | g.152307975G>T | CA342050002 | FLG | c.6911C>A (p.Thr2304Asn)
| |
1 | g.152307976T>A | CA1104981 | FLG | c.6910A>T (p.Thr2304Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307976T>C | CA342050005 | FLG | c.6910A>G (p.Thr2304Ala)
| dbSNP |
1 | g.152307976T>G | CA342050004 | FLG | c.6910A>C (p.Thr2304Pro)
| |
1 | g.152307976T= | CA2479949419 | FLG | c.6910A= (p.Thr2304=)
| |
1 | g.152307977G>A | CA420928565 | FLG | c.6909C>T (p.Gly2303=)
| dbSNP gnomAD v4 |
1 | g.152307977G>C | CA420928566 | FLG | c.6909C>G (p.Gly2303=)
| |
1 | g.152307977G= | CA2479949420 | FLG | c.6909C= (p.Gly2303=)
| |
1 | g.152307977G>T | CA420928567 | FLG | c.6909C>A (p.Gly2303=)
| gnomAD v4 COSMIC |
1 | g.152307978C>A | CA342050009 | FLG | c.6908G>T (p.Gly2303Val)
| |
1 | g.152307978C= | CA2479949421 | FLG | c.6908G= (p.Gly2303=)
| |
1 | g.152307978C>G | CA342050011 | FLG | c.6908G>C (p.Gly2303Ala)
| |
1 | g.152307978C>T | CA342050014 | FLG | c.6908G>A (p.Gly2303Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307979del | CA2574058009 | FLG | c.6908del (p.Gly2303AlafsTer?)
| |
1 | g.152307979C>A | CA342050017 | FLG | c.6907G>T (p.Gly2303Cys)
| |
1 | g.152307979C= | CA1142054853 | FLG | c.6907G= (p.Gly2303=)
| |
1 | g.152307979C>G | CA1104982 | FLG | c.6907G>C (p.Gly2303Arg)
| dbSNP ExAC gnomAD v4 |
1 | g.152307979C>T | CA342050018 | FLG | c.6907G>A (p.Gly2303Ser)
| |
1 | g.152307980T>A | CA420928569 | FLG | c.6906A>T (p.Ser2302=)
| |
1 | g.152307980T>C | CA420928570 | FLG | c.6906A>G (p.Ser2302=)
| |
1 | g.152307980T>G | CA420928572 | FLG | c.6906A>C (p.Ser2302=)
| |
1 | g.152307981G>A | CA342050021 | FLG | c.6905C>T (p.Ser2302Leu)
| |
1 | g.152307981G>C | CA342050023 | FLG | c.6905C>G (p.Ser2302Ter)
| gnomAD v4 |
1 | g.152307981G>T | CA342050025 | FLG | c.6905C>A (p.Ser2302Ter)
| |
1 | g.152307982A= | CA2479949422 | FLG | c.6904T= (p.Ser2302=)
| |
1 | g.152307982A>C | CA342050028 | FLG | c.6904T>G (p.Ser2302Ala)
| dbSNP gnomAD v4 |
1 | g.152307982A>G | CA342050030 | FLG | c.6904T>C (p.Ser2302Pro)
| |
1 | g.152307982A>T | CA342050032 | FLG | c.6904T>A (p.Ser2302Thr)
| |
1 | g.152307983T>A | CA342050035 | FLG | c.6903A>T (p.Gln2301His)
| |
1 | g.152307983T>C | CA420928575 | FLG | c.6903A>G (p.Gln2301=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307983T>G | CA342050037 | FLG | c.6903A>C (p.Gln2301His)
| |
1 | g.152307983T= | CA2479949423 | FLG | c.6903A= (p.Gln2301=)
| |
1 | g.152307983_152307987delinsTTGTC | CA2479949424 | FLG | c.6899_6903delinsGACAA (p.Arg2300=)
| |
1 | g.152307984T>A | CA342050040 | FLG | c.6902A>T (p.Gln2301Leu)
| dbSNP gnomAD v4 |
1 | g.152307984T>C | CA342050041 | FLG | c.6902A>G (p.Gln2301Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307984T>G | CA342050043 | FLG | c.6902A>C (p.Gln2301Pro)
| dbSNP gnomAD v4 |
1 | g.152307984T= | CA2479949426 | FLG | c.6902A= (p.Gln2301=)
| |
1 | g.152307986_152307989del | CA2479949425 | FLG | c.6899_6902del (p.Arg2300AsnfsTer?)
| dbSNP gnomAD v4 |
1 | g.152307985G>A | CA1104983 | FLG | c.6901C>T (p.Gln2301Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307985G>C | CA342050045 | FLG | c.6901C>G (p.Gln2301Glu)
| |
1 | g.152307985G= | CA1148433329 | FLG | c.6901C= (p.Gln2301=)
| |
1 | g.152307985G>T | CA1104984 | FLG | c.6901C>A (p.Gln2301Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307986T>A | CA342050050 | FLG | c.6900A>T (p.Arg2300Ser)
| |
1 | g.152307986T>C | CA420928582 | FLG | c.6900A>G (p.Arg2300=)
| gnomAD v4 |
1 | g.152307986T>G | CA342050052 | FLG | c.6900A>C (p.Arg2300Ser)
| |
1 | g.152307987C>A | CA342050055 | FLG | c.6899G>T (p.Arg2300Ile)
| |
1 | g.152307987C= | CA2479949427 | FLG | c.6899G= (p.Arg2300=)
| |
1 | g.152307987C>G | CA342050057 | FLG | c.6899G>C (p.Arg2300Thr)
| |
1 | g.152307987C>T | CA1104985 | FLG | c.6899G>A (p.Arg2300Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307988T>A | CA342050059 | FLG | c.6898A>T (p.Arg2300Ter)
| |
1 | g.152307988T>C | CA1104986 | FLG | c.6898A>G (p.Arg2300Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307988T>G | CA420928594 | FLG | c.6898A>C (p.Arg2300=)
| |
1 | g.152307988T= | CA1148876037 | FLG | c.6898A= (p.Arg2300=)
| |
1 | g.152307989G>A | CA420928595 | FLG | c.6897C>T (p.Ser2299=)
| gnomAD v4 |
1 | g.152307989G>C | CA420928596 | FLG | c.6897C>G (p.Ser2299=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152307989G= | CA2479949428 | FLG | c.6897C= (p.Ser2299=)
| |
1 | g.152307989G>T | CA420928597 | FLG | c.6897C>A (p.Ser2299=)
| COSMIC |
1 | g.152307990G>A | CA342050065 | FLG | c.6896C>T (p.Ser2299Phe)
| |
1 | g.152307990G>C | CA342050067 | FLG | c.6896C>G (p.Ser2299Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307990G= | CA2479949429 | FLG | c.6896C= (p.Ser2299=)
| |
1 | g.152307990G>T | CA342050069 | FLG | c.6896C>A (p.Ser2299Tyr)
| gnomAD v3 gnomAD v4 |
1 | g.152307991A>C | CA342050071 | FLG | c.6895T>G (p.Ser2299Ala)
| |
1 | g.152307991A>G | CA342050074 | FLG | c.6895T>C (p.Ser2299Pro)
| |
1 | g.152307991A>T | CA342050076 | FLG | c.6895T>A (p.Ser2299Thr)
| |
1 | g.152307992G>A | CA420928606 | FLG | c.6894C>T (p.Ser2298=)
| gnomAD v4 |
1 | g.152307992G>C | CA342050079 | FLG | c.6894C>G (p.Ser2298Arg)
| |
1 | g.152307992G>T | CA342050081 | FLG | c.6894C>A (p.Ser2298Arg)
| |
1 | g.152307993C>A | CA342050084 | FLG | c.6893G>T (p.Ser2298Ile)
| |
1 | g.152307993C>G | CA342050086 | FLG | c.6893G>C (p.Ser2298Thr)
| gnomAD v4 |
1 | g.152307993C>T | CA342050088 | FLG | c.6893G>A (p.Ser2298Asn)
| |
1 | g.152307994T>A | CA342050092 | FLG | c.6892A>T (p.Ser2298Cys)
| |
1 | g.152307994T>C | CA1104987 | FLG | c.6892A>G (p.Ser2298Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307994T>G | CA30549427 | FLG | c.6892A>C (p.Ser2298Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307994T= | CA1144093503 | FLG | c.6892A= (p.Ser2298=)
| |
1 | g.152307995C>A | CA342050094 | FLG | c.6891G>T (p.Glu2297Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307995C= | CA1141079674 | FLG | c.6891G= (p.Glu2297=)
| |
1 | g.152307995C>G | CA1104988 | FLG | c.6891G>C (p.Glu2297Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152307995C>T | CA420928609 | FLG | c.6891G>A (p.Glu2297=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152307996T>A | CA1104989 | FLG | c.6890A>T (p.Glu2297Val)
| dbSNP ExAC gnomAD v4 |
1 | g.152307996T>C | CA342050099 | FLG | c.6890A>G (p.Glu2297Gly)
| COSMIC |
1 | g.152307996T>G | CA342050101 | FLG | c.6890A>C (p.Glu2297Ala)
| |
1 | g.152307996T= | CA2479949430 | FLG | c.6890A= (p.Glu2297=)
| |
1 | g.152307997C>A | CA342050102 | FLG | c.6889G>T (p.Glu2297Ter)
| |
1 | g.152307997C>G | CA342050103 | FLG | c.6889G>C (p.Glu2297Gln)
| gnomAD v4 |
1 | g.152307997C>T | CA342050104 | FLG | c.6889G>A (p.Glu2297Lys)
| |
1 | g.152307998T>A | CA1104990 | FLG | c.6888A>T (p.Ala2296=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152307998T>C | CA420928615 | FLG | c.6888A>G (p.Ala2296=)
| dbSNP |
1 | g.152307998T>G | CA420928617 | FLG | c.6888A>C (p.Ala2296=)
| |
1 | g.152307998T= | CA2479949431 | FLG | c.6888A= (p.Ala2296=)
| |
1 | g.152307999G>A | CA342050106 | FLG | c.6887C>T (p.Ala2296Val)
| |
1 | g.152307999G>C | CA342050107 | FLG | c.6887C>G (p.Ala2296Gly)
| |
1 | g.152307999G>T | CA342050109 | FLG | c.6887C>A (p.Ala2296Glu)
| |
1 | g.152308000C>A | CA342050116 | FLG | c.6886G>T (p.Ala2296Ser)
| |
1 | g.152308000C= | CA2479949432 | FLG | c.6886G= (p.Ala2296=)
| |
1 | g.152308000C>G | CA342050114 | FLG | c.6886G>C (p.Ala2296Pro)
| |
1 | g.152308000C>T | CA342050112 | FLG | c.6886G>A (p.Ala2296Thr)
| dbSNP gnomAD v4 |
1 | g.152308001A>C | CA420928620 | FLG | c.6885T>G (p.Ser2295=)
| gnomAD v4 |
1 | g.152308001A>G | CA420928623 | FLG | c.6885T>C (p.Ser2295=)
| |
1 | g.152308001A>T | CA420928625 | FLG | c.6885T>A (p.Ser2295=)
| COSMIC |
1 | g.152308002G>A | CA342050118 | FLG | c.6884C>T (p.Ser2295Phe)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308002G>C | CA342050121 | FLG | c.6884C>G (p.Ser2295Cys)
| |
1 | g.152308002G= | CA2479949433 | FLG | c.6884C= (p.Ser2295=)
| |
1 | g.152308002G>T | CA342050119 | FLG | c.6884C>A (p.Ser2295Tyr)
| |
1 | g.152308003A= | CA2479949434 | FLG | c.6883T= (p.Ser2295=)
| |
1 | g.152308003A>C | CA1104991 | FLG | c.6883T>G (p.Ser2295Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308003A>G | CA342050125 | FLG | c.6883T>C (p.Ser2295Pro)
| |
1 | g.152308003A>T | CA342050127 | FLG | c.6883T>A (p.Ser2295Thr)
| |
1 | g.152308004G>A | CA420928629 | FLG | c.6882C>T (p.His2294=)
| |
1 | g.152308004G>C | CA342050128 | FLG | c.6882C>G (p.His2294Gln)
| gnomAD v4 |
1 | g.152308004G>T | CA342050130 | FLG | c.6882C>A (p.His2294Gln)
| |
1 | g.152308005T>A | CA1104992 | FLG | c.6881A>T (p.His2294Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308005T>C | CA342050135 | FLG | c.6881A>G (p.His2294Arg)
| |
1 | g.152308005T>G | CA342050138 | FLG | c.6881A>C (p.His2294Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308005T= | CA2479949435 | FLG | c.6881A= (p.His2294=)
| |
1 | g.152308005_152308016delinsTGCCCATGACCG | CA2479949436 | FLG | c.6870_6881delinsCGGTCATGGGCA (p.Ala2290=)
| |
1 | g.152308006G>A | CA342050141 | FLG | c.6880C>T (p.His2294Tyr)
| |
1 | g.152308006G>C | CA342050143 | FLG | c.6880C>G (p.His2294Asp)
| |
1 | g.152308006G>T | CA342050145 | FLG | c.6880C>A (p.His2294Asn)
| gnomAD v4 |
1 | g.152308008_152308018del | CA1007766658 | FLG | c.6870_6880del (p.Gly2291LeufsTer26)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308007C>A | CA420928639 | FLG | c.6879G>T (p.Gly2293=)
| dbSNP |
1 | g.152308007C= | CA2479949437 | FLG | c.6879G= (p.Gly2293=)
| |
1 | g.152308007C>G | CA420928640 | FLG | c.6879G>C (p.Gly2293=)
| gnomAD v4 |
1 | g.152308007C>T | CA420928642 | FLG | c.6879G>A (p.Gly2293=)
| dbSNP gnomAD v4 |
1 | g.152308008C>A | CA342050150 | FLG | c.6878G>T (p.Gly2293Val)
| gnomAD v4 |
1 | g.152308008C>G | CA342050148 | FLG | c.6878G>C (p.Gly2293Ala)
| gnomAD v4 |
1 | g.152308008C>T | CA342050146 | FLG | c.6878G>A (p.Gly2293Glu)
| |
1 | g.152308009C>A | CA342050152 | FLG | c.6877G>T (p.Gly2293Trp)
| |
1 | g.152308009C>G | CA342050153 | FLG | c.6877G>C (p.Gly2293Arg)
| |
1 | g.152308009C>T | CA342050154 | FLG | c.6877G>A (p.Gly2293Arg)
| gnomAD v4 |
1 | g.152308010A= | CA1143798225 | FLG | c.6876T= (p.His2292=)
| |
1 | g.152308010A>C | CA342050157 | FLG | c.6876T>G (p.His2292Gln)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308010A>G | CA1104993 | FLG | c.6876T>C (p.His2292=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308010A>T | CA342050161 | FLG | c.6876T>A (p.His2292Gln)
| |
1 | g.152308011T>A | CA342050162 | FLG | c.6875A>T (p.His2292Leu)
| |
1 | g.152308011T>C | CA342050163 | FLG | c.6875A>G (p.His2292Arg)
| gnomAD v4 |
1 | g.152308011T>G | CA342050165 | FLG | c.6875A>C (p.His2292Pro)
| |
1 | g.152308011_152308012delinsTG | CA2479949438 | FLG | c.6874_6875delinsCA (p.His2292=)
| |
1 | g.152308012del | CA2479949439 | FLG | c.6874del (p.His2292MetfsTer?)
| dbSNP |
1 | g.152308012G>A | CA342050168 | FLG | c.6874C>T (p.His2292Tyr)
| |
1 | g.152308012G>C | CA342050170 | FLG | c.6874C>G (p.His2292Asp)
| |
1 | g.152308012G= | CA2479949440 | FLG | c.6874C= (p.His2292=)
| |
1 | g.152308012G>T | CA30549442 | FLG | c.6874C>A (p.His2292Asn)
| dbSNP gnomAD v4 |
1 | g.152308013A= | CA1142129994 | FLG | c.6873T= (p.Gly2291=)
| |
1 | g.152308013A>C | CA1104994 | FLG | c.6873T>G (p.Gly2291=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308013A>G | CA420928652 | FLG | c.6873T>C (p.Gly2291=)
| |
1 | g.152308013A>T | CA420928653 | FLG | c.6873T>A (p.Gly2291=)
| |
1 | g.152308013_152308014delinsAC | CA2479949441 | FLG | c.6872_6873delinsGT (p.Gly2291=)
| |
1 | g.152308014C>A | CA342050178 | FLG | c.6872G>T (p.Gly2291Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308014C= | CA2479949442 | FLG | c.6872G= (p.Gly2291=)
| |
1 | g.152308014C>G | CA342050173 | FLG | c.6872G>C (p.Gly2291Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308014C>T | CA342050175 | FLG | c.6872G>A (p.Gly2291Asp)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308015del | CA1104995 | FLG | c.6872del (p.Gly2291ValfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308015C>A | CA342050179 | FLG | c.6871G>T (p.Gly2291Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308015C= | CA1143418924 | FLG | c.6871G= (p.Gly2291=)
| |
1 | g.152308015C>G | CA342050180 | FLG | c.6871G>C (p.Gly2291Arg)
| gnomAD v4 |
1 | g.152308015C>T | CA1104996 | FLG | c.6871G>A (p.Gly2291Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308016G>A | CA1104997 | FLG | c.6870C>T (p.Ala2290=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308016G>C | CA1104998 | FLG | c.6870C>G (p.Ala2290=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308016G= | CA1141194984 | FLG | c.6870C= (p.Ala2290=)
| |
1 | g.152308016G>T | CA1104999 | FLG | c.6870C>A (p.Ala2290=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308017G>A | CA342050191 | FLG | c.6869C>T (p.Ala2290Val)
| dbSNP gnomAD v4 |
1 | g.152308017G>C | CA342050192 | FLG | c.6869C>G (p.Ala2290Gly)
| gnomAD v4 |
1 | g.152308017G= | CA2479949444 | FLG | c.6869C= (p.Ala2290=)
| |
1 | g.152308017G>T | CA342050194 | FLG | c.6869C>A (p.Ala2290Asp)
| |
1 | g.152308017_152308019delinsGCT | CA2479949443 | FLG | c.6867_6869delinsAGC (p.Arg2289=)
| |
1 | g.152308018C>A | CA342050200 | FLG | c.6868G>T (p.Ala2290Ser)
| |
1 | g.152308018C= | CA2479949445 | FLG | c.6868G= (p.Ala2290=)
| |
1 | g.152308018C>G | CA342050199 | FLG | c.6868G>C (p.Ala2290Pro)
| gnomAD v4 |
1 | g.152308018C>T | CA342050197 | FLG | c.6868G>A (p.Ala2290Thr)
| dbSNP |
1 | g.152308018_152308021delinsCTCT | CA1148257439 | FLG | c.6865_6868delinsAGAG (p.Arg2289=)
| |
1 | g.152308020_152308021del | CA1105000 | FLG | c.6867_6868del (p.Arg2289SerfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308019T>A | CA342050201 | FLG | c.6867A>T (p.Arg2289Ser)
| |
1 | g.152308019T>C | CA420928664 | FLG | c.6867A>G (p.Arg2289=)
| gnomAD v4 |
1 | g.152308019T>G | CA342050204 | FLG | c.6867A>C (p.Arg2289Ser)
| |
1 | g.152308020C>A | CA342050208 | FLG | c.6866G>T (p.Arg2289Ile)
| |
1 | g.152308020C= | CA2479949446 | FLG | c.6866G= (p.Arg2289=)
| |
1 | g.152308020C>G | CA1105001 | FLG | c.6866G>C (p.Arg2289Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308020C>T | CA342050210 | FLG | c.6866G>A (p.Arg2289Lys)
| gnomAD v4 |
1 | g.152308021T>A | CA342050214 | FLG | c.6865A>T (p.Arg2289Ter)
| |
1 | g.152308021T>C | CA342050216 | FLG | c.6865A>G (p.Arg2289Gly)
| gnomAD v4 |
1 | g.152308021T>G | CA420928673 | FLG | c.6865A>C (p.Arg2289=)
| |
1 | g.152308022G>A | CA30549478 | FLG | c.6864C>T (p.Asp2288=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308022G>C | CA342050220 | FLG | c.6864C>G (p.Asp2288Glu)
| dbSNP gnomAD v4 |
1 | g.152308022G= | CA1143480424 | FLG | c.6864C= (p.Asp2288=)
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1 | g.152308022G>T | CA1105002 | FLG | c.6864C>A (p.Asp2288Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308023T>A | CA342050228 | FLG | c.6863A>T (p.Asp2288Val)
| |
1 | g.152308023T>C | CA342050227 | FLG | c.6863A>G (p.Asp2288Gly)
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1 | g.152308023T>G | CA342050225 | FLG | c.6863A>C (p.Asp2288Ala)
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1 | g.152308024C>A | CA342050229 | FLG | c.6862G>T (p.Asp2288Tyr)
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1 | g.152308024C>G | CA342050231 | FLG | c.6862G>C (p.Asp2288His)
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1 | g.152308024C>T | CA342050230 | FLG | c.6862G>A (p.Asp2288Asn)
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1 | g.152308025T>A | CA342050232 | FLG | c.6861A>T (p.Glu2287Asp)
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1 | g.152308025T>C | CA420928682 | FLG | c.6861A>G (p.Glu2287=)
| gnomAD v4 |
1 | g.152308025T>G | CA342050234 | FLG | c.6861A>C (p.Glu2287Asp)
| |
1 | g.152308026T>A | CA342050236 | FLG | c.6860A>T (p.Glu2287Val)
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1 | g.152308026T>C | CA342050240 | FLG | c.6860A>G (p.Glu2287Gly)
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1 | g.152308026T>G | CA342050241 | FLG | c.6860A>C (p.Glu2287Ala)
| |
1 | g.152308027C>A | CA1105004 | FLG | c.6859G>T (p.Glu2287Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308027C= | CA1143361229 | FLG | c.6859G= (p.Glu2287=)
| |
1 | g.152308027C>G | CA342050243 | FLG | c.6859G>C (p.Glu2287Gln)
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1 | g.152308027C>T | CA1105003 | FLG | c.6859G>A (p.Glu2287Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308028G>A | CA1105005 | FLG | c.6858C>T (p.His2286=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308028G>C | CA30549486 | FLG | c.6858C>G (p.His2286Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308028G= | CA1141813320 | FLG | c.6858C= (p.His2286=)
| |
1 | g.152308028G>T | CA1105006 | FLG | c.6858C>A (p.His2286Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308029T>A | CA342050250 | FLG | c.6857A>T (p.His2286Leu)
| COSMIC |
1 | g.152308029T>C | CA342050252 | FLG | c.6857A>G (p.His2286Arg)
| |
1 | g.152308029T>G | CA342050254 | FLG | c.6857A>C (p.His2286Pro)
| |
1 | g.152308030G>A | CA1105007 | FLG | c.6856C>T (p.His2286Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308030G>C | CA342050256 | FLG | c.6856C>G (p.His2286Asp)
| gnomAD v4 |
1 | g.152308030G= | CA2479949447 | FLG | c.6856C= (p.His2286=)
| |
1 | g.152308030G>T | CA342050255 | FLG | c.6856C>A (p.His2286Asn)
| |
1 | g.152308031A= | CA2479949448 | FLG | c.6855T= (p.His2285=)
| |
1 | g.152308031A>C | CA342050257 | FLG | c.6855T>G (p.His2285Gln)
| |
1 | g.152308031A>G | CA1105008 | FLG | c.6855T>C (p.His2285=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308031A>T | CA342050259 | FLG | c.6855T>A (p.His2285Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308032T>A | CA342050260 | FLG | c.6854A>T (p.His2285Leu)
| |
1 | g.152308032T>C | CA1105009 | FLG | c.6854A>G (p.His2285Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308032T>G | CA342050264 | FLG | c.6854A>C (p.His2285Pro)
| |
1 | g.152308032T= | CA1148250891 | FLG | c.6854A= (p.His2285=)
| |