1 | g.152312447_152312458del | CA2647993758 | FLG | c.2430_2441del (p.Gly811_Thr814del)
| gnomAD v4 |
1 | g.152312455C>A | CA342089696 | FLG | c.2431G>T (p.Gly811Trp)
| |
1 | g.152312455C= | CA2479951924 | FLG | c.2431G= (p.Gly811=)
| |
1 | g.152312455C>G | CA342089699 | FLG | c.2431G>C (p.Gly811Arg)
| |
1 | g.152312455C>T | CA342089693 | FLG | c.2431G>A (p.Gly811Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152312456T>A | CA420930705 | FLG | c.2430A>T (p.Thr810=)
| gnomAD v4 |
1 | g.152312456T>C | CA1107178 | FLG | c.2430A>G (p.Thr810=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312456T>G | CA1107177 | FLG | c.2430A>C (p.Thr810=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312456T= | CA1141628153 | FLG | c.2430A= (p.Thr810=)
| |
1 | g.152312457G>A | CA342089705 | FLG | c.2429C>T (p.Thr810Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312457G>C | CA342089713 | FLG | c.2429C>G (p.Thr810Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312457G= | CA2479951925 | FLG | c.2429C= (p.Thr810=)
| |
1 | g.152312457G>T | CA342089709 | FLG | c.2429C>A (p.Thr810Lys)
| |
1 | g.152312458T>A | CA342089726 | FLG | c.2428A>T (p.Thr810Ser)
| |
1 | g.152312458T>C | CA342089729 | FLG | c.2428A>G (p.Thr810Ala)
| COSMIC |
1 | g.152312458T>G | CA342089728 | FLG | c.2428A>C (p.Thr810Pro)
| |
1 | g.152312459C>A | CA342089730 | FLG | c.2427G>T (p.Trp809Cys)
| dbSNP |
1 | g.152312459C= | CA1148241786 | FLG | c.2427G= (p.Trp809=)
| |
1 | g.152312459C>G | CA1107179 | FLG | c.2427G>C (p.Trp809Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312459C>T | CA10602756 | FLG | c.2427G>A (p.Trp809Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312460C>A | CA342089733 | FLG | c.2426G>T (p.Trp809Leu)
| |
1 | g.152312460C>G | CA342089735 | FLG | c.2426G>C (p.Trp809Ser)
| |
1 | g.152312460C>T | CA342089739 | FLG | c.2426G>A (p.Trp809Ter)
| gnomAD v4 |
1 | g.152312461A= | CA2479951926 | FLG | c.2425T= (p.Trp809=)
| |
1 | g.152312461A>C | CA342089747 | FLG | c.2425T>G (p.Trp809Gly)
| |
1 | g.152312461A>G | CA1107180 | FLG | c.2425T>C (p.Trp809Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312461A>T | CA342089748 | FLG | c.2425T>A (p.Trp809Arg)
| dbSNP |
1 | g.152312462T>A | CA420930706 | FLG | c.2424A>T (p.Gly808=)
| |
1 | g.152312462T>C | CA420930707 | FLG | c.2424A>G (p.Gly808=)
| gnomAD v4 |
1 | g.152312462T>G | CA420930708 | FLG | c.2424A>C (p.Gly808=)
| |
1 | g.152312463C>A | CA30561961 | FLG | c.2423G>T (p.Gly808Val)
| dbSNP |
1 | g.152312463C= | CA1143379197 | FLG | c.2423G= (p.Gly808=)
| |
1 | g.152312463C>G | CA342089749 | FLG | c.2423G>C (p.Gly808Ala)
| |
1 | g.152312463C>T | CA342089751 | FLG | c.2423G>A (p.Gly808Glu)
| gnomAD v4 |
1 | g.152312464C>A | CA342089758 | FLG | c.2422G>T (p.Gly808Ter)
| gnomAD v4 |
1 | g.152312464C>G | CA342089753 | FLG | c.2422G>C (p.Gly808Arg)
| |
1 | g.152312464C>T | CA342089755 | FLG | c.2422G>A (p.Gly808Arg)
| gnomAD v4 |
1 | g.152312465A= | CA1142125413 | FLG | c.2421T= (p.His807=)
| |
1 | g.152312465A>C | CA1107182 | FLG | c.2421T>G (p.His807Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312465A>G | CA1107181 | FLG | c.2421T>C (p.His807=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312465A>T | CA342089760 | FLG | c.2421T>A (p.His807Gln)
| |
1 | g.152312466T>A | CA342089765 | FLG | c.2420A>T (p.His807Leu)
| |
1 | g.152312466T>C | CA30561974 | FLG | c.2420A>G (p.His807Arg)
| dbSNP gnomAD v4 |
1 | g.152312466T>G | CA30561977 | FLG | c.2420A>C (p.His807Pro)
| dbSNP |
1 | g.152312466T= | CA1143369728 | FLG | c.2420A= (p.His807=)
| |
1 | g.152312467G>A | CA342089773 | FLG | c.2419C>T (p.His807Tyr)
| dbSNP |
1 | g.152312467G>C | CA342089776 | FLG | c.2419C>G (p.His807Asp)
| gnomAD v4 |
1 | g.152312467G= | CA2479951927 | FLG | c.2419C= (p.His807=)
| |
1 | g.152312467G>T | CA342089779 | FLG | c.2419C>A (p.His807Asn)
| COSMIC |
1 | g.152312468G>A | CA1107183 | FLG | c.2418C>T (p.Ser806=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312468G>C | CA420930709 | FLG | c.2418C>G (p.Ser806=)
| |
1 | g.152312468G= | CA2479951928 | FLG | c.2418C= (p.Ser806=)
| |
1 | g.152312468G>T | CA420930710 | FLG | c.2418C>A (p.Ser806=)
| gnomAD v4 |
1 | g.152312469G>A | CA342089789 | FLG | c.2417C>T (p.Ser806Phe)
| gnomAD v4 COSMIC |
1 | g.152312469G>C | CA342089787 | FLG | c.2417C>G (p.Ser806Cys)
| gnomAD v4 |
1 | g.152312469G>T | CA342089785 | FLG | c.2417C>A (p.Ser806Tyr)
| |
1 | g.152312470A= | CA2479951929 | FLG | c.2416T= (p.Ser806=)
| |
1 | g.152312470A>C | CA342089802 | FLG | c.2416T>G (p.Ser806Ala)
| dbSNP gnomAD v4 |
1 | g.152312470A>G | CA342089804 | FLG | c.2416T>C (p.Ser806Pro)
| gnomAD v4 |
1 | g.152312470A>T | CA342089808 | FLG | c.2416T>A (p.Ser806Thr)
| dbSNP gnomAD v4 |
1 | g.152312471G>A | CA1107184 | FLG | c.2415C>T (p.Ser805=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312471G>C | CA420930712 | FLG | c.2415C>G (p.Ser805=)
| |
1 | g.152312471G= | CA2479951930 | FLG | c.2415C= (p.Ser805=)
| |
1 | g.152312471G>T | CA420930711 | FLG | c.2415C>A (p.Ser805=)
| |
1 | g.152312472G>A | CA1107185 | FLG | c.2414C>T (p.Ser805Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312472G>C | CA342089814 | FLG | c.2414C>G (p.Ser805Cys)
| |
1 | g.152312472G= | CA1140814080 | FLG | c.2414C= (p.Ser805=)
| |
1 | g.152312472G>T | CA1107186 | FLG | c.2414C>A (p.Ser805Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312473A>C | CA342089826 | FLG | c.2413T>G (p.Ser805Ala)
| |
1 | g.152312473A>G | CA342089830 | FLG | c.2413T>C (p.Ser805Pro)
| |
1 | g.152312473A>T | CA342089834 | FLG | c.2413T>A (p.Ser805Thr)
| gnomAD v4 |
1 | g.152312474C>A | CA342089836 | FLG | c.2412G>T (p.Glu804Asp)
| |
1 | g.152312474C>G | CA342089838 | FLG | c.2412G>C (p.Glu804Asp)
| gnomAD v4 |
1 | g.152312474C>T | CA420930713 | FLG | c.2412G>A (p.Glu804=)
| |
1 | g.152312475T>A | CA342089847 | FLG | c.2411A>T (p.Glu804Val)
| |
1 | g.152312475T>C | CA342089841 | FLG | c.2411A>G (p.Glu804Gly)
| |
1 | g.152312475T>G | CA342089844 | FLG | c.2411A>C (p.Glu804Ala)
| |
1 | g.152312476C>A | CA342089851 | FLG | c.2410G>T (p.Glu804Ter)
| COSMIC |
1 | g.152312476C= | CA2479951931 | FLG | c.2410G= (p.Glu804=)
| |
1 | g.152312476C>G | CA342089852 | FLG | c.2410G>C (p.Glu804Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312476C>T | CA342089853 | FLG | c.2410G>A (p.Glu804Lys)
| |
1 | g.152312477A= | CA2479951932 | FLG | c.2409T= (p.Ser803=)
| |
1 | g.152312477A>C | CA420930714 | FLG | c.2409T>G (p.Ser803=)
| |
1 | g.152312477A>G | CA420930716 | FLG | c.2409T>C (p.Ser803=)
| gnomAD v4 |
1 | g.152312477A>T | CA420930715 | FLG | c.2409T>A (p.Ser803=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312478G>A | CA342089855 | FLG | c.2408C>T (p.Ser803Phe)
| |
1 | g.152312478G>C | CA342089860 | FLG | c.2408C>G (p.Ser803Cys)
| dbSNP |
1 | g.152312478G= | CA2479951933 | FLG | c.2408C= (p.Ser803=)
| |
1 | g.152312478G>T | CA342089863 | FLG | c.2408C>A (p.Ser803Tyr)
| |
1 | g.152312479A= | CA1147606268 | FLG | c.2407T= (p.Ser803=)
| |
1 | g.152312479A>C | CA342089868 | FLG | c.2407T>G (p.Ser803Ala)
| |
1 | g.152312479A>G | CA1107187 | FLG | c.2407T>C (p.Ser803Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312479A>T | CA342089872 | FLG | c.2407T>A (p.Ser803Thr)
| |
1 | g.152312480C>A | CA342089878 | FLG | c.2406G>T (p.Gln802His)
| |
1 | g.152312480C>G | CA342089882 | FLG | c.2406G>C (p.Gln802His)
| |
1 | g.152312480C>T | CA420930717 | FLG | c.2406G>A (p.Gln802=)
| gnomAD v4 |
1 | g.152312480_152312484delinsCTGTT | CA2479951934 | FLG | c.2402_2406delinsAACAG (p.Lys801=)
| |
1 | g.152312481T>A | CA342089895 | FLG | c.2405A>T (p.Gln802Leu)
| |
1 | g.152312481T>C | CA342089891 | FLG | c.2405A>G (p.Gln802Arg)
| |
1 | g.152312481T>G | CA342089886 | FLG | c.2405A>C (p.Gln802Pro)
| gnomAD v4 |
1 | g.152312482_152312485del | CA526662265 | FLG | c.2402_2405del (p.Lys801SerfsTer15)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312482G>A | CA342089896 | FLG | c.2404C>T (p.Gln802Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312482G>C | CA342089899 | FLG | c.2404C>G (p.Gln802Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312482G= | CA1142375622 | FLG | c.2404C= (p.Gln802=)
| |
1 | g.152312482G>T | CA1107188 | FLG | c.2404C>A (p.Gln802Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312483T>A | CA342089901 | FLG | c.2403A>T (p.Lys801Asn)
| |
1 | g.152312483T>C | CA420930719 | FLG | c.2403A>G (p.Lys801=)
| |
1 | g.152312483T>G | CA342089903 | FLG | c.2403A>C (p.Lys801Asn)
| |
1 | g.152312484T>A | CA342089908 | FLG | c.2402A>T (p.Lys801Ile)
| |
1 | g.152312484T>C | CA342089910 | FLG | c.2402A>G (p.Lys801Arg)
| |
1 | g.152312484T>G | CA342089912 | FLG | c.2402A>C (p.Lys801Thr)
| |
1 | g.152312485T>A | CA342089913 | FLG | c.2401A>T (p.Lys801Ter)
| |
1 | g.152312485T>C | CA1107189 | FLG | c.2401A>G (p.Lys801Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312485T>G | CA342089914 | FLG | c.2401A>C (p.Lys801Gln)
| |
1 | g.152312485T= | CA1142180978 | FLG | c.2401A= (p.Lys801=)
| |
1 | g.152312486A= | CA2479951935 | FLG | c.2400T= (p.His800=)
| |
1 | g.152312486A>C | CA342089916 | FLG | c.2400T>G (p.His800Gln)
| |
1 | g.152312486A>G | CA420930723 | FLG | c.2400T>C (p.His800=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312486A>T | CA342089918 | FLG | c.2400T>A (p.His800Gln)
| dbSNP |
1 | g.152312487T>A | CA342089926 | FLG | c.2399A>T (p.His800Leu)
| |
1 | g.152312487T>C | CA342089924 | FLG | c.2399A>G (p.His800Arg)
| |
1 | g.152312487T>G | CA342089921 | FLG | c.2399A>C (p.His800Pro)
| |
1 | g.152312488G>A | CA342089929 | FLG | c.2398C>T (p.His800Tyr)
| |
1 | g.152312488G>C | CA342089933 | FLG | c.2398C>G (p.His800Asp)
| |
1 | g.152312488G>T | CA342089935 | FLG | c.2398C>A (p.His800Asn)
| |
1 | g.152312489A>C | CA420930725 | FLG | c.2397T>G (p.Thr799=)
| gnomAD v4 |
1 | g.152312489A>G | CA420930726 | FLG | c.2397T>C (p.Thr799=)
| |
1 | g.152312489A>T | CA420930727 | FLG | c.2397T>A (p.Thr799=)
| |
1 | g.152312490G>A | CA342089939 | FLG | c.2396C>T (p.Thr799Ile)
| gnomAD v4 |
1 | g.152312490G>C | CA342089942 | FLG | c.2396C>G (p.Thr799Ser)
| |
1 | g.152312490G>T | CA342089945 | FLG | c.2396C>A (p.Thr799Asn)
| gnomAD v4 |
1 | g.152312491T>A | CA342089950 | FLG | c.2395A>T (p.Thr799Ser)
| gnomAD v4 |
1 | g.152312491T>C | CA342089953 | FLG | c.2395A>G (p.Thr799Ala)
| dbSNP |
1 | g.152312491T>G | CA342089957 | FLG | c.2395A>C (p.Thr799Pro)
| |
1 | g.152312491T= | CA2479951937 | FLG | c.2395A= (p.Thr799=)
| |
1 | g.152312491_152312492delinsTG | CA2479951936 | FLG | c.2394_2395delinsCA (p.Ser798=)
| |
1 | g.152312491_152312497delinsTGCTCAC | CA2479951939 | FLG | c.2389_2395delinsGTGAGCA (p.Val797=)
| |
1 | g.152312491_152312507delinsTGCTCACCTGGTAGAGG | CA2479951938 | FLG | c.2379_2395delinsCCTCTACCAGGTGAGCA (p.Phe793=)
| |
1 | g.152312492del | CA1107190 | FLG | c.2394del (p.Ser798ArgfsTer19)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312492G>A | CA420930730 | FLG | c.2394C>T (p.Ser798=)
| |
1 | g.152312492G>C | CA342089958 | FLG | c.2394C>G (p.Ser798Arg)
| |
1 | g.152312492G>T | CA342089959 | FLG | c.2394C>A (p.Ser798Arg)
| |
1 | g.152312492_152312497del | CA889442620 | FLG | c.2389_2394del (p.Val797_Ser798del)
| dbSNP |
1 | g.152312492_152312507delinsCTGAGGA | CA658821143 | FLG | c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln)
| ClinVar dbSNP |
1 | g.152312493C>A | CA30562007 | FLG | c.2393G>T (p.Ser798Ile)
| dbSNP |
1 | g.152312493C= | CA2479951940 | FLG | c.2393G= (p.Ser798=)
| |
1 | g.152312493C>G | CA342089962 | FLG | c.2393G>C (p.Ser798Thr)
| gnomAD v4 |
1 | g.152312493C>T | CA342089961 | FLG | c.2393G>A (p.Ser798Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312494T>A | CA342089965 | FLG | c.2392A>T (p.Ser798Cys)
| |
1 | g.152312494T>C | CA342089972 | FLG | c.2392A>G (p.Ser798Gly)
| gnomAD v4 |
1 | g.152312494T>G | CA342089976 | FLG | c.2392A>C (p.Ser798Arg)
| |
1 | g.152312494_152312503delinsTCACCTGGTA | CA2479951941 | FLG | c.2383_2392delinsTACCAGGTGA (p.Tyr795=)
| |
1 | g.152312495C>A | CA420930732 | FLG | c.2391G>T (p.Val797=)
| |
1 | g.152312495C>G | CA420930733 | FLG | c.2391G>C (p.Val797=)
| |
1 | g.152312495C>T | CA420930734 | FLG | c.2391G>A (p.Val797=)
| gnomAD v4 |
1 | g.152312495_152312503del | CA1107191 | FLG | c.2383_2391del (p.Tyr795_Val797del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312496A>C | CA342089981 | FLG | c.2390T>G (p.Val797Gly)
| |
1 | g.152312496A>G | CA342089982 | FLG | c.2390T>C (p.Val797Ala)
| |
1 | g.152312496A>T | CA342089983 | FLG | c.2390T>A (p.Val797Glu)
| gnomAD v4 |
1 | g.152312497C>A | CA342089984 | FLG | c.2389G>T (p.Val797Leu)
| |
1 | g.152312497C= | CA1143433137 | FLG | c.2389G= (p.Val797=)
| |
1 | g.152312497C>G | CA342089985 | FLG | c.2389G>C (p.Val797Leu)
| |
1 | g.152312497C>T | CA1107192 | FLG | c.2389G>A (p.Val797Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312498C>A | CA342089991 | FLG | c.2388G>T (p.Gln796His)
| |
1 | g.152312498C= | CA2479951942 | FLG | c.2388G= (p.Gln796=)
| |
1 | g.152312498C>G | CA1107193 | FLG | c.2388G>C (p.Gln796His)
| dbSNP ExAC gnomAD v4 |
1 | g.152312498C>T | CA420930738 | FLG | c.2388G>A (p.Gln796=)
| |
1 | g.152312499T>A | CA342090001 | FLG | c.2387A>T (p.Gln796Leu)
| |
1 | g.152312499T>C | CA342090003 | FLG | c.2387A>G (p.Gln796Arg)
| |
1 | g.152312499T>G | CA342089997 | FLG | c.2387A>C (p.Gln796Pro)
| |
1 | g.152312499_152312503delinsTGGTA | CA2479951943 | FLG | c.2383_2387delinsTACCA (p.Tyr795=)
| |
1 | g.152312500G>A | CA342090005 | FLG | c.2386C>T (p.Gln796Ter)
| gnomAD v4 |
1 | g.152312500G>C | CA1107194 | FLG | c.2386C>G (p.Gln796Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312500G= | CA2479951944 | FLG | c.2386C= (p.Gln796=)
| |
1 | g.152312500G>T | CA342090014 | FLG | c.2386C>A (p.Gln796Lys)
| gnomAD v4 |
1 | g.152312501del | CA2647993761 | FLG | c.2386del (p.Gln796ArgfsTer2)
| gnomAD v4 |
1 | g.152312501_152312504del | CA2479951945 | FLG | c.2383_2386del (p.Tyr795ArgfsTer2)
| dbSNP |
1 | g.152312501G>A | CA420930740 | FLG | c.2385C>T (p.Tyr795=)
| COSMIC |
1 | g.152312501G>C | CA342090020 | FLG | c.2385C>G (p.Tyr795Ter)
| |
1 | g.152312501G= | CA2479951946 | FLG | c.2385C= (p.Tyr795=)
| |
1 | g.152312501G>T | CA1107195 | FLG | c.2385C>A (p.Tyr795Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312502T>A | CA342090039 | FLG | c.2384A>T (p.Tyr795Phe)
| |
1 | g.152312502T>C | CA342090027 | FLG | c.2384A>G (p.Tyr795Cys)
| |
1 | g.152312502T>G | CA342090030 | FLG | c.2384A>C (p.Tyr795Ser)
| |
1 | g.152312503A= | CA2479951947 | FLG | c.2383T= (p.Tyr795=)
| |
1 | g.152312503A>C | CA342090043 | FLG | c.2383T>G (p.Tyr795Asp)
| |
1 | g.152312503A>G | CA1107196 | FLG | c.2383T>C (p.Tyr795His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312503A>T | CA342090050 | FLG | c.2383T>A (p.Tyr795Asn)
| |
1 | g.152312504G>A | CA420930742 | FLG | c.2382C>T (p.Leu794=)
| |
1 | g.152312504G>C | CA420930743 | FLG | c.2382C>G (p.Leu794=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312504G= | CA2479951948 | FLG | c.2382C= (p.Leu794=)
| |
1 | g.152312504G>T | CA420930744 | FLG | c.2382C>A (p.Leu794=)
| gnomAD v4 |
1 | g.152312505A>C | CA342090052 | FLG | c.2381T>G (p.Leu794Arg)
| |
1 | g.152312505A>G | CA342090054 | FLG | c.2381T>C (p.Leu794Pro)
| |
1 | g.152312505A>T | CA342090057 | FLG | c.2381T>A (p.Leu794His)
| |
1 | g.152312506G>A | CA342090066 | FLG | c.2380C>T (p.Leu794Phe)
| gnomAD v4 |
1 | g.152312506G>C | CA342090064 | FLG | c.2380C>G (p.Leu794Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312506G= | CA2479951949 | FLG | c.2380C= (p.Leu794=)
| |
1 | g.152312506G>T | CA342090062 | FLG | c.2380C>A (p.Leu794Ile)
| gnomAD v4 COSMIC |
1 | g.152312506_152312507insA | CA30562068 | FLG | c.2379_2380insT (p.Leu794SerfsTer8)
| |
1 | g.152312507G>A | CA1107198 | FLG | c.2379C>T (p.Phe793=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312507G>C | CA342090093 | FLG | c.2379C>G (p.Phe793Leu)
| |
1 | g.152312507G= | CA2479951950 | FLG | c.2379C= (p.Phe793=)
| |
1 | g.152312507G>T | CA342090082 | FLG | c.2379C>A (p.Phe793Leu)
| |
1 | g.152312508A= | CA1149155565 | FLG | c.2378T= (p.Phe793=)
| |
1 | g.152312508A>C | CA342090107 | FLG | c.2378T>G (p.Phe793Cys)
| |
1 | g.152312508A>G | CA1107199 | FLG | c.2378T>C (p.Phe793Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312508A>T | CA342090104 | FLG | c.2378T>A (p.Phe793Tyr)
| |
1 | g.152312510dup | CA1107197 | FLG | c.2378dup (p.Leu794ProfsTer8)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312509A= | CA2479951951 | FLG | c.2377T= (p.Phe793=)
| |
1 | g.152312509A>C | CA342090108 | FLG | c.2377T>G (p.Phe793Val)
| |
1 | g.152312509A>G | CA1107200 | FLG | c.2377T>C (p.Phe793Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312509A>T | CA342090111 | FLG | c.2377T>A (p.Phe793Ile)
| |
1 | g.152312510A= | CA2479951952 | FLG | c.2376T= (p.Ser792=)
| |
1 | g.152312510A>C | CA1107201 | FLG | c.2376T>G (p.Ser792=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312510A>G | CA420930753 | FLG | c.2376T>C (p.Ser792=)
| gnomAD v4 |
1 | g.152312510A>T | CA420930755 | FLG | c.2376T>A (p.Ser792=)
| |
1 | g.152312511G>A | CA30562085 | FLG | c.2375C>T (p.Ser792Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312511G>C | CA342090123 | FLG | c.2375C>G (p.Ser792Cys)
| gnomAD v4 |
1 | g.152312511G= | CA1141716143 | FLG | c.2375C= (p.Ser792=)
| |
1 | g.152312511G>T | CA342090126 | FLG | c.2375C>A (p.Ser792Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312512A= | CA2479951953 | FLG | c.2374T= (p.Ser792=)
| |
1 | g.152312512A>C | CA342090129 | FLG | c.2374T>G (p.Ser792Ala)
| |
1 | g.152312512A>G | CA342090131 | FLG | c.2374T>C (p.Ser792Pro)
| |
1 | g.152312512A>T | CA342090137 | FLG | c.2374T>A (p.Ser792Thr)
| dbSNP |
1 | g.152312513C>A | CA1107202 | FLG | c.2373G>T (p.Gly791=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312513C= | CA2479951954 | FLG | c.2373G= (p.Gly791=)
| |
1 | g.152312513C>G | CA420930757 | FLG | c.2373G>C (p.Gly791=)
| |
1 | g.152312513C>T | CA420930758 | FLG | c.2373G>A (p.Gly791=)
| dbSNP gnomAD v4 |
1 | g.152312515del | CA2647993762 | FLG | c.2373del (p.Ser792LeufsTer6)
| gnomAD v4 |
1 | g.152312514C>A | CA342090148 | FLG | c.2372G>T (p.Gly791Val)
| |
1 | g.152312514C>G | CA342090139 | FLG | c.2372G>C (p.Gly791Ala)
| |
1 | g.152312514C>T | CA342090147 | FLG | c.2372G>A (p.Gly791Glu)
| |
1 | g.152312515C>A | CA342090149 | FLG | c.2371G>T (p.Gly791Trp)
| |
1 | g.152312515C= | CA2479951955 | FLG | c.2371G= (p.Gly791=)
| |
1 | g.152312515C>G | CA342090152 | FLG | c.2371G>C (p.Gly791Arg)
| |
1 | g.152312515C>T | CA342090154 | FLG | c.2371G>A (p.Gly791Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312516T>A | CA420930761 | FLG | c.2370A>T (p.Ser790=)
| |
1 | g.152312516T>C | CA420930763 | FLG | c.2370A>G (p.Ser790=)
| |
1 | g.152312516T>G | CA420930764 | FLG | c.2370A>C (p.Ser790=)
| |
1 | g.152312517G>A | CA342090161 | FLG | c.2369C>T (p.Ser790Leu)
| gnomAD v4 |
1 | g.152312517G>C | CA342090162 | FLG | c.2369C>G (p.Ser790Ter)
| |
1 | g.152312517G>T | CA342090163 | FLG | c.2369C>A (p.Ser790Ter)
| COSMIC |
1 | g.152312517_152312518del | CA2647993763 | FLG | c.2368_2369del (p.Ser790ArgfsTer11)
| gnomAD v4 |
1 | g.152312518A= | CA2479951956 | FLG | c.2368T= (p.Ser790=)
| |
1 | g.152312518A>C | CA342090164 | FLG | c.2368T>G (p.Ser790Ala)
| gnomAD v4 |
1 | g.152312518A>G | CA342090165 | FLG | c.2368T>C (p.Ser790Pro)
| |
1 | g.152312518A>T | CA342090167 | FLG | c.2368T>A (p.Ser790Thr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312519A= | CA2479951957 | FLG | c.2367T= (p.Arg789=)
| |
1 | g.152312519A>C | CA420930765 | FLG | c.2367T>G (p.Arg789=)
| |
1 | g.152312519A>G | CA1107203 | FLG | c.2367T>C (p.Arg789=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312519A>T | CA420930768 | FLG | c.2367T>A (p.Arg789=)
| |
1 | g.152312520C>A | CA1107205 | FLG | c.2366G>T (p.Arg789Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312520C= | CA1142171033 | FLG | c.2366G= (p.Arg789=)
| |
1 | g.152312520C>G | CA342090173 | FLG | c.2366G>C (p.Arg789Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312520C>T | CA1107204 | FLG | c.2366G>A (p.Arg789His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312520_152312521insCAG | CA2647993764 | FLG | c.2365_2366insCTG (p.Arg789delinsProGly)
| gnomAD v4 |
1 | g.152312521G>A | CA1107206 | FLG | c.2365C>T (p.Arg789Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312521G>C | CA342090183 | FLG | c.2365C>G (p.Arg789Gly)
| gnomAD v4 |
1 | g.152312521G= | CA2479951958 | FLG | c.2365C= (p.Arg789=)
| |
1 | g.152312521G>T | CA342090193 | FLG | c.2365C>A (p.Arg789Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312522T>A | CA420930770 | FLG | c.2364A>T (p.Arg788=)
| dbSNP |
1 | g.152312522T>C | CA1107207 | FLG | c.2364A>G (p.Arg788=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312522T>G | CA420930773 | FLG | c.2364A>C (p.Arg788=)
| |
1 | g.152312522T= | CA2479951959 | FLG | c.2364A= (p.Arg788=)
| |
1 | g.152312523C>A | CA342090209 | FLG | c.2363G>T (p.Arg788Leu)
| gnomAD v4 |
1 | g.152312523C= | CA1141869998 | FLG | c.2363G= (p.Arg788=)
| |
1 | g.152312523C>G | CA1107209 | FLG | c.2363G>C (p.Arg788Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312523C>T | CA1107208 | FLG | c.2363G>A (p.Arg788Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312524G>A | CA1107211 | FLG | c.2362C>T (p.Arg788Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312524G>C | CA1107210 | FLG | c.2362C>G (p.Arg788Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312524G= | CA1142662875 | FLG | c.2362C= (p.Arg788=)
| |
1 | g.152312524G>T | CA420930774 | FLG | c.2362C>A (p.Arg788=)
| gnomAD v4 |
1 | g.152312525A= | CA2479951960 | FLG | c.2361T= (p.Ser787=)
| |
1 | g.152312525A>C | CA420930776 | FLG | c.2361T>G (p.Ser787=)
| COSMIC |
1 | g.152312525A>G | CA420930778 | FLG | c.2361T>C (p.Ser787=)
| dbSNP |
1 | g.152312525A>T | CA420930780 | FLG | c.2361T>A (p.Ser787=)
| |
1 | g.152312526G>A | CA1107212 | FLG | c.2360C>T (p.Ser787Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312526G>C | CA342090227 | FLG | c.2360C>G (p.Ser787Cys)
| dbSNP gnomAD v4 |
1 | g.152312526G= | CA1141023007 | FLG | c.2360C= (p.Ser787=)
| |
1 | g.152312526G>T | CA342090229 | FLG | c.2360C>A (p.Ser787Tyr)
| |
1 | g.152312527A>C | CA342090237 | FLG | c.2359T>G (p.Ser787Ala)
| |
1 | g.152312527A>G | CA342090234 | FLG | c.2359T>C (p.Ser787Pro)
| |
1 | g.152312527A>T | CA342090232 | FLG | c.2359T>A (p.Ser787Thr)
| |
1 | g.152312528C>A | CA342090246 | FLG | c.2358G>T (p.Arg786Ser)
| |
1 | g.152312528C= | CA2479951961 | FLG | c.2358G= (p.Arg786=)
| |
1 | g.152312528C>G | CA1107213 | FLG | c.2358G>C (p.Arg786Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312528C>T | CA420930781 | FLG | c.2358G>A (p.Arg786=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312529C>A | CA342090251 | FLG | c.2357G>T (p.Arg786Met)
| gnomAD v4 COSMIC |
1 | g.152312529C>G | CA342090253 | FLG | c.2357G>C (p.Arg786Thr)
| gnomAD v4 |
1 | g.152312529C>T | CA342090257 | FLG | c.2357G>A (p.Arg786Lys)
| |
1 | g.152312530T>A | CA342090261 | FLG | c.2356A>T (p.Arg786Trp)
| gnomAD v4 |
1 | g.152312530T>C | CA342090264 | FLG | c.2356A>G (p.Arg786Gly)
| |
1 | g.152312530T>G | CA420930782 | FLG | c.2356A>C (p.Arg786=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312530T= | CA2479951962 | FLG | c.2356A= (p.Arg786=)
| |
1 | g.152312531T>A | CA342090273 | FLG | c.2355A>T (p.Glu785Asp)
| |
1 | g.152312531T>C | CA420930785 | FLG | c.2355A>G (p.Glu785=)
| |
1 | g.152312531T>G | CA342090275 | FLG | c.2355A>C (p.Glu785Asp)
| |
1 | g.152312531_152312533delinsTTC | CA2479951963 | FLG | c.2353_2355delinsGAA (p.Glu785=)
| |
1 | g.152312532T>A | CA342090277 | FLG | c.2354A>T (p.Glu785Val)
| |
1 | g.152312532T>C | CA1107215 | FLG | c.2354A>G (p.Glu785Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312532T>G | CA342090282 | FLG | c.2354A>C (p.Glu785Ala)
| |
1 | g.152312532T= | CA2479951965 | FLG | c.2354A= (p.Glu785=)
| |
1 | g.152312532_152312533del | CA526662266 | FLG | c.2353_2354del (p.Glu785LysfsTer16)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312532_152312533delinsTC | CA2479951964 | FLG | c.2353_2354delinsGA (p.Glu785=)
| |
1 | g.152312533C>A | CA342090304 | FLG | c.2353G>T (p.Glu785Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312533C= | CA2479951966 | FLG | c.2353G= (p.Glu785=)
| |
1 | g.152312533C>G | CA342090288 | FLG | c.2353G>C (p.Glu785Gln)
| |
1 | g.152312533C>T | CA342090306 | FLG | c.2353G>A (p.Glu785Lys)
| |
1 | g.152312536del | CA1107214 | FLG | c.2353del (p.Glu785LysfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312534C>A | CA420930788 | FLG | c.2352G>T (p.Gly784=)
| |
1 | g.152312534C= | CA2479951967 | FLG | c.2352G= (p.Gly784=)
| |
1 | g.152312534C>G | CA420930789 | FLG | c.2352G>C (p.Gly784=)
| |
1 | g.152312534C>T | CA420930790 | FLG | c.2352G>A (p.Gly784=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312535C>A | CA342090324 | FLG | c.2351G>T (p.Gly784Val)
| dbSNP gnomAD v2 |
1 | g.152312535C= | CA2479951968 | FLG | c.2351G= (p.Gly784=)
| |
1 | g.152312535C>G | CA342090310 | FLG | c.2351G>C (p.Gly784Ala)
| |
1 | g.152312535C>T | CA342090315 | FLG | c.2351G>A (p.Gly784Glu)
| gnomAD v4 |
1 | g.152312535_152312536insTG | CA526662267 | FLG | c.2350_2351insCA (p.Gly784AlafsTer15)
| gnomAD v2 gnomAD v4 |
1 | g.152312536C>A | CA342090325 | FLG | c.2350G>T (p.Gly784Trp)
| |
1 | g.152312536C>G | CA342090326 | FLG | c.2350G>C (p.Gly784Arg)
| gnomAD v4 |
1 | g.152312536C>T | CA342090327 | FLG | c.2350G>A (p.Gly784Arg)
| gnomAD v4 |
1 | g.152312537del | CA2647993765 | FLG | c.2349del (p.Glu785LysfsTer13)
| gnomAD v4 |
1 | g.152312537T>A | CA420930794 | FLG | c.2349A>T (p.Ser783=)
| |
1 | g.152312537T>C | CA420930795 | FLG | c.2349A>G (p.Ser783=)
| |
1 | g.152312537T>G | CA420930796 | FLG | c.2349A>C (p.Ser783=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312537T= | CA2479951969 | FLG | c.2349A= (p.Ser783=)
| |
1 | g.152312538G>A | CA342090329 | FLG | c.2348C>T (p.Ser783Leu)
| |
1 | g.152312538G>C | CA342090332 | FLG | c.2348C>G (p.Ser783Ter)
| gnomAD v4 |
1 | g.152312538G= | CA2479951970 | FLG | c.2348C= (p.Ser783=)
| |
1 | g.152312538G>T | CA342090335 | FLG | c.2348C>A (p.Ser783Ter)
| dbSNP |
1 | g.152312539A>C | CA342090341 | FLG | c.2347T>G (p.Ser783Ala)
| |
1 | g.152312539A>G | CA342090346 | FLG | c.2347T>C (p.Ser783Pro)
| |
1 | g.152312539A>T | CA342090349 | FLG | c.2347T>A (p.Ser783Thr)
| |
1 | g.152312540C>A | CA420930798 | FLG | c.2346G>T (p.Arg782=)
| |
1 | g.152312540C= | CA1141734048 | FLG | c.2346G= (p.Arg782=)
| |
1 | g.152312540C>G | CA420930799 | FLG | c.2346G>C (p.Arg782=)
| dbSNP |
1 | g.152312540C>T | CA1107216 | FLG | c.2346G>A (p.Arg782=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312541C>A | CA342090365 | FLG | c.2345G>T (p.Arg782Leu)
| |
1 | g.152312541C= | CA1145605783 | FLG | c.2345G= (p.Arg782=)
| |
1 | g.152312541C>G | CA342090355 | FLG | c.2345G>C (p.Arg782Pro)
| |
1 | g.152312541C>T | CA1107217 | FLG | c.2345G>A (p.Arg782Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312542G>A | CA1107218 | FLG | c.2344C>T (p.Arg782Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312542G>C | CA342090372 | FLG | c.2344C>G (p.Arg782Gly)
| dbSNP COSMIC |
1 | g.152312542G= | CA1146641239 | FLG | c.2344C= (p.Arg782=)
| |
1 | g.152312542G>T | CA1107219 | FLG | c.2344C>A (p.Arg782=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312543G>A | CA420930803 | FLG | c.2343C>T (p.Asp781=)
| gnomAD v4 |
1 | g.152312543G>C | CA342090377 | FLG | c.2343C>G (p.Asp781Glu)
| |
1 | g.152312543G= | CA2479951971 | FLG | c.2343C= (p.Asp781=)
| |
1 | g.152312543G>T | CA342090381 | FLG | c.2343C>A (p.Asp781Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312544T>A | CA342090382 | FLG | c.2342A>T (p.Asp781Val)
| |
1 | g.152312544T>C | CA1107220 | FLG | c.2342A>G (p.Asp781Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312544T>G | CA342090391 | FLG | c.2342A>C (p.Asp781Ala)
| gnomAD v4 |
1 | g.152312544T= | CA1141594287 | FLG | c.2342A= (p.Asp781=)
| |
1 | g.152312545C>A | CA342090398 | FLG | c.2341G>T (p.Asp781Tyr)
| |
1 | g.152312545C= | CA1142259473 | FLG | c.2341G= (p.Asp781=)
| |
1 | g.152312545C>G | CA1107221 | FLG | c.2341G>C (p.Asp781His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312545C>T | CA342090401 | FLG | c.2341G>A (p.Asp781Asn)
| gnomAD v4 |
1 | g.152312546A= | CA2479951972 | FLG | c.2340T= (p.Arg780=)
| |
1 | g.152312546A>C | CA420930807 | FLG | c.2340T>G (p.Arg780=)
| |
1 | g.152312546A>G | CA420930808 | FLG | c.2340T>C (p.Arg780=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312546A>T | CA420930809 | FLG | c.2340T>A (p.Arg780=)
| dbSNP gnomAD v2 |
1 | g.152312546_152312551delinsACGTGC | CA2479951973 | FLG | c.2335_2340delinsGCACGT (p.Ala779=)
| |
1 | g.152312547C>A | CA342090405 | FLG | c.2339G>T (p.Arg780Leu)
| |
1 | g.152312547C= | CA1141209932 | FLG | c.2339G= (p.Arg780=)
| |
1 | g.152312547C>G | CA342090406 | FLG | c.2339G>C (p.Arg780Pro)
| gnomAD v4 |
1 | g.152312547C>T | CA1107222 | FLG | c.2339G>A (p.Arg780His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312547_152312551del | CA2479951974 | FLG | c.2335_2339del (p.Ala779Ter)
| dbSNP |
1 | g.152312548G>A | CA1107223 | FLG | c.2338C>T (p.Arg780Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312548G>C | CA342090410 | FLG | c.2338C>G (p.Arg780Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312548G= | CA2479951975 | FLG | c.2338C= (p.Arg780=)
| |
1 | g.152312548G>T | CA1107224 | FLG | c.2338C>A (p.Arg780Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312549T>A | CA420930813 | FLG | c.2337A>T (p.Ala779=)
| |
1 | g.152312549T>C | CA420930814 | FLG | c.2337A>G (p.Ala779=)
| |
1 | g.152312549T>G | CA420930815 | FLG | c.2337A>C (p.Ala779=)
| |
1 | g.152312550G>A | CA342090412 | FLG | c.2336C>T (p.Ala779Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312550G>C | CA342090413 | FLG | c.2336C>G (p.Ala779Gly)
| |
1 | g.152312550G= | CA2479951976 | FLG | c.2336C= (p.Ala779=)
| |
1 | g.152312550G>T | CA342090414 | FLG | c.2336C>A (p.Ala779Glu)
| |
1 | g.152312551C>A | CA1107226 | FLG | c.2335G>T (p.Ala779Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312551C= | CA2479951977 | FLG | c.2335G= (p.Ala779=)
| |
1 | g.152312551C>G | CA342090418 | FLG | c.2335G>C (p.Ala779Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312551C>T | CA1107225 | FLG | c.2335G>A (p.Ala779Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312552G>A | CA1107227 | FLG | c.2334C>T (p.Ser778=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312552G>C | CA1107228 | FLG | c.2334C>G (p.Ser778=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312552G= | CA2479951978 | FLG | c.2334C= (p.Ser778=)
| |
1 | g.152312552G>T | CA420930817 | FLG | c.2334C>A (p.Ser778=)
| |
1 | g.152312553G>A | CA342090428 | FLG | c.2333C>T (p.Ser778Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312553G>C | CA342090429 | FLG | c.2333C>G (p.Ser778Cys)
| |
1 | g.152312553G= | CA2479951979 | FLG | c.2333C= (p.Ser778=)
| |
1 | g.152312553G>T | CA342090433 | FLG | c.2333C>A (p.Ser778Tyr)
| |
1 | g.152312554del | CA2647993784 | FLG | c.2332del (p.Ser778ProfsTer20)
| gnomAD v4 |
1 | g.152312554A= | CA2479951980 | FLG | c.2332T= (p.Ser778=)
| |
1 | g.152312554A>C | CA342090438 | FLG | c.2332T>G (p.Ser778Ala)
| |
1 | g.152312554A>G | CA342090452 | FLG | c.2332T>C (p.Ser778Pro)
| ClinVar dbSNP gnomAD v4 |
1 | g.152312554A>T | CA342090440 | FLG | c.2332T>A (p.Ser778Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312555C>A | CA1107230 | FLG | c.2331G>T (p.Glu777Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312555C= | CA1148286643 | FLG | c.2331G= (p.Glu777=)
| |
1 | g.152312555C>G | CA342090456 | FLG | c.2331G>C (p.Glu777Asp)
| |
1 | g.152312555C>T | CA1107229 | FLG | c.2331G>A (p.Glu777=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |