1 | g.152308919_152309499del | CA2580611196 | FLG | c.5387_5967del (p.Gln1796ArgfsTer6)
| ClinVar |
1 | g.152308958_152308994del | CA2647993628 | FLG | c.5892_5928del (p.Arg1964SerfsTer?)
| gnomAD v4 |
1 | g.152308970G>A | CA30551513 | FLG | c.5916C>T (p.Asp1972=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308970G>C | CA342059704 | FLG | c.5916C>G (p.Asp1972Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308970G= | CA1146113803 | FLG | c.5916C= (p.Asp1972=)
| |
1 | g.152308970G>T | CA342059709 | FLG | c.5916C>A (p.Asp1972Glu)
| |
1 | g.152308971T>A | CA1105518 | FLG | c.5915A>T (p.Asp1972Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308971T>C | CA342059714 | FLG | c.5915A>G (p.Asp1972Gly)
| |
1 | g.152308971T>G | CA342059712 | FLG | c.5915A>C (p.Asp1972Ala)
| |
1 | g.152308971T= | CA1148871522 | FLG | c.5915A= (p.Asp1972=)
| |
1 | g.152308972C>A | CA1105519 | FLG | c.5914G>T (p.Asp1972Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308972C= | CA2479950015 | FLG | c.5914G= (p.Asp1972=)
| |
1 | g.152308972C>G | CA342059728 | FLG | c.5914G>C (p.Asp1972His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308972C>T | CA342059744 | FLG | c.5914G>A (p.Asp1972Asn)
| dbSNP gnomAD v4 |
1 | g.152308973T>A | CA420929291 | FLG | c.5913A>T (p.Ala1971=)
| |
1 | g.152308973T>C | CA420929292 | FLG | c.5913A>G (p.Ala1971=)
| |
1 | g.152308973T>G | CA420929294 | FLG | c.5913A>C (p.Ala1971=)
| gnomAD v4 |
1 | g.152308974G>A | CA342059753 | FLG | c.5912C>T (p.Ala1971Val)
| gnomAD v4 |
1 | g.152308974G>C | CA342059768 | FLG | c.5912C>G (p.Ala1971Gly)
| |
1 | g.152308974G>T | CA342059772 | FLG | c.5912C>A (p.Ala1971Glu)
| gnomAD v4 |
1 | g.152308975C>A | CA342059778 | FLG | c.5911G>T (p.Ala1971Ser)
| |
1 | g.152308975C= | CA2479950016 | FLG | c.5911G= (p.Ala1971=)
| |
1 | g.152308975C>G | CA342059800 | FLG | c.5911G>C (p.Ala1971Pro)
| dbSNP gnomAD v2 |
1 | g.152308975C>T | CA342059795 | FLG | c.5911G>A (p.Ala1971Thr)
| |
1 | g.152308976A>C | CA420929299 | FLG | c.5910T>G (p.Ser1970=)
| |
1 | g.152308976A>G | CA420929301 | FLG | c.5910T>C (p.Ser1970=)
| |
1 | g.152308976A>T | CA420929303 | FLG | c.5910T>A (p.Ser1970=)
| COSMIC |
1 | g.152308977G>A | CA342059804 | FLG | c.5909C>T (p.Ser1970Phe)
| |
1 | g.152308977G>C | CA342059810 | FLG | c.5909C>G (p.Ser1970Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308977G= | CA2479950017 | FLG | c.5909C= (p.Ser1970=)
| |
1 | g.152308977G>T | CA342059824 | FLG | c.5909C>A (p.Ser1970Tyr)
| |
1 | g.152308978A= | CA2479950018 | FLG | c.5908T= (p.Ser1970=)
| |
1 | g.152308978A>C | CA342059825 | FLG | c.5908T>G (p.Ser1970Ala)
| |
1 | g.152308978A>G | CA342059826 | FLG | c.5908T>C (p.Ser1970Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308978A>T | CA342059833 | FLG | c.5908T>A (p.Ser1970Thr)
| |
1 | g.152308979G>A | CA420929305 | FLG | c.5907C>T (p.His1969=)
| |
1 | g.152308979G>C | CA342059834 | FLG | c.5907C>G (p.His1969Gln)
| |
1 | g.152308979G>T | CA342059835 | FLG | c.5907C>A (p.His1969Gln)
| COSMIC |
1 | g.152308980T>A | CA342059838 | FLG | c.5906A>T (p.His1969Leu)
| |
1 | g.152308980T>C | CA342059841 | FLG | c.5906A>G (p.His1969Arg)
| |
1 | g.152308980T>G | CA342059843 | FLG | c.5906A>C (p.His1969Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308980T= | CA2479950019 | FLG | c.5906A= (p.His1969=)
| |
1 | g.152308981G>A | CA342059853 | FLG | c.5905C>T (p.His1969Tyr)
| |
1 | g.152308981G>C | CA342059849 | FLG | c.5905C>G (p.His1969Asp)
| gnomAD v4 |
1 | g.152308981G= | CA2479950020 | FLG | c.5905C= (p.His1969=)
| |
1 | g.152308981G>T | CA1105520 | FLG | c.5905C>A (p.His1969Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308982C>A | CA420929309 | FLG | c.5904G>T (p.Gly1968=)
| |
1 | g.152308982C>G | CA420929307 | FLG | c.5904G>C (p.Gly1968=)
| |
1 | g.152308982C>T | CA420929308 | FLG | c.5904G>A (p.Gly1968=)
| |
1 | g.152308983C>A | CA342059854 | FLG | c.5903G>T (p.Gly1968Val)
| |
1 | g.152308983C= | CA1149122907 | FLG | c.5903G= (p.Gly1968=)
| |
1 | g.152308983C>G | CA342059855 | FLG | c.5903G>C (p.Gly1968Ala)
| dbSNP |
1 | g.152308983C>T | CA1105521 | FLG | c.5903G>A (p.Gly1968Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308984C>A | CA342059858 | FLG | c.5902G>T (p.Gly1968Trp)
| |
1 | g.152308984C= | CA2479950021 | FLG | c.5902G= (p.Gly1968=)
| |
1 | g.152308984C>G | CA1105523 | FLG | c.5902G>C (p.Gly1968Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308984C>T | CA1105522 | FLG | c.5902G>A (p.Gly1968Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308985G>A | CA1105524 | FLG | c.5901C>T (p.His1967=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308985G>C | CA342059879 | FLG | c.5901C>G (p.His1967Gln)
| dbSNP |
1 | g.152308985G= | CA1139987800 | FLG | c.5901C= (p.His1967=)
| |
1 | g.152308985G>T | CA1105525 | FLG | c.5901C>A (p.His1967Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308986T>A | CA342059889 | FLG | c.5900A>T (p.His1967Leu)
| gnomAD v4 |
1 | g.152308986T>C | CA342059893 | FLG | c.5900A>G (p.His1967Arg)
| |
1 | g.152308986T>G | CA342059896 | FLG | c.5900A>C (p.His1967Pro)
| |
1 | g.152308987G>A | CA342059899 | FLG | c.5899C>T (p.His1967Tyr)
| |
1 | g.152308987G>C | CA342059903 | FLG | c.5899C>G (p.His1967Asp)
| |
1 | g.152308987G>T | CA342059908 | FLG | c.5899C>A (p.His1967Asn)
| |
1 | g.152308988A>C | CA420929310 | FLG | c.5898T>G (p.Gly1966=)
| |
1 | g.152308988A>G | CA420929311 | FLG | c.5898T>C (p.Gly1966=)
| |
1 | g.152308988A>T | CA420929312 | FLG | c.5898T>A (p.Gly1966=)
| |
1 | g.152308989C>A | CA342059917 | FLG | c.5897G>T (p.Gly1966Val)
| |
1 | g.152308989C>G | CA342059923 | FLG | c.5897G>C (p.Gly1966Ala)
| |
1 | g.152308989C>T | CA342059922 | FLG | c.5897G>A (p.Gly1966Asp)
| |
1 | g.152308990C>A | CA1105527 | FLG | c.5896G>T (p.Gly1966Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308990C= | CA1141218716 | FLG | c.5896G= (p.Gly1966=)
| |
1 | g.152308990C>G | CA342059925 | FLG | c.5896G>C (p.Gly1966Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308990C>T | CA1105526 | FLG | c.5896G>A (p.Gly1966Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308991G>A | CA1105528 | FLG | c.5895C>T (p.Ala1965=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308991G>C | CA420929315 | FLG | c.5895C>G (p.Ala1965=)
| gnomAD v4 |
1 | g.152308991G= | CA1142157241 | FLG | c.5895C= (p.Ala1965=)
| |
1 | g.152308991G>T | CA420929316 | FLG | c.5895C>A (p.Ala1965=)
| |
1 | g.152308992G>A | CA342059935 | FLG | c.5894C>T (p.Ala1965Val)
| |
1 | g.152308992G>C | CA342059947 | FLG | c.5894C>G (p.Ala1965Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308992G= | CA2479950022 | FLG | c.5894C= (p.Ala1965=)
| |
1 | g.152308992G>T | CA1105529 | FLG | c.5894C>A (p.Ala1965Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308993C>A | CA342059961 | FLG | c.5893G>T (p.Ala1965Ser)
| |
1 | g.152308993C= | CA2479950023 | FLG | c.5893G= (p.Ala1965=)
| |
1 | g.152308993C>G | CA342059969 | FLG | c.5893G>C (p.Ala1965Pro)
| dbSNP gnomAD v4 |
1 | g.152308993C>T | CA342059974 | FLG | c.5893G>A (p.Ala1965Thr)
| gnomAD v4 |
1 | g.152308994T>A | CA342059977 | FLG | c.5892A>T (p.Arg1964Ser)
| |
1 | g.152308994T>C | CA420929030 | FLG | c.5892A>G (p.Arg1964=)
| |
1 | g.152308994T>G | CA342059983 | FLG | c.5892A>C (p.Arg1964Ser)
| |
1 | g.152308995C>A | CA342059987 | FLG | c.5891G>T (p.Arg1964Ile)
| |
1 | g.152308995C= | CA2479950024 | FLG | c.5891G= (p.Arg1964=)
| |
1 | g.152308995C>G | CA342059996 | FLG | c.5891G>C (p.Arg1964Thr)
| gnomAD v4 |
1 | g.152308995C>T | CA1105530 | FLG | c.5891G>A (p.Arg1964Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308996T>A | CA342060005 | FLG | c.5890A>T (p.Arg1964Ter)
| |
1 | g.152308996T>C | CA342060008 | FLG | c.5890A>G (p.Arg1964Gly)
| gnomAD v4 |
1 | g.152308996T>G | CA420929036 | FLG | c.5890A>C (p.Arg1964=)
| dbSNP |
1 | g.152308996T= | CA2479950025 | FLG | c.5890A= (p.Arg1964=)
| |
1 | g.152308997G>A | CA420929037 | FLG | c.5889C>T (p.Asp1963=)
| gnomAD v3 gnomAD v4 |
1 | g.152308997G>C | CA342060012 | FLG | c.5889C>G (p.Asp1963Glu)
| |
1 | g.152308997G>T | CA342060014 | FLG | c.5889C>A (p.Asp1963Glu)
| |
1 | g.152308998T>A | CA342060017 | FLG | c.5888A>T (p.Asp1963Val)
| |
1 | g.152308998T>C | CA342060020 | FLG | c.5888A>G (p.Asp1963Gly)
| dbSNP |
1 | g.152308998T>G | CA342060026 | FLG | c.5888A>C (p.Asp1963Ala)
| |
1 | g.152308998T= | CA2479950026 | FLG | c.5888A= (p.Asp1963=)
| |
1 | g.152308999C>A | CA342060031 | FLG | c.5887G>T (p.Asp1963Tyr)
| |
1 | g.152308999C= | CA2479950027 | FLG | c.5887G= (p.Asp1963=)
| |
1 | g.152308999C>G | CA342060036 | FLG | c.5887G>C (p.Asp1963His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308999C>T | CA342060039 | FLG | c.5887G>A (p.Asp1963Asn)
| COSMIC |
1 | g.152309000T>A | CA342060040 | FLG | c.5886A>T (p.Glu1962Asp)
| |
1 | g.152309000T>C | CA420929042 | FLG | c.5886A>G (p.Glu1962=)
| |
1 | g.152309000T>G | CA342060041 | FLG | c.5886A>C (p.Glu1962Asp)
| gnomAD v4 |
1 | g.152309001T>A | CA342060055 | FLG | c.5885A>T (p.Glu1962Val)
| |
1 | g.152309001T>C | CA342060047 | FLG | c.5885A>G (p.Glu1962Gly)
| |
1 | g.152309001T>G | CA342060044 | FLG | c.5885A>C (p.Glu1962Ala)
| |
1 | g.152309002C>A | CA342060061 | FLG | c.5884G>T (p.Glu1962Ter)
| |
1 | g.152309002C= | CA2479950028 | FLG | c.5884G= (p.Glu1962=)
| |
1 | g.152309002C>G | CA342060065 | FLG | c.5884G>C (p.Glu1962Gln)
| |
1 | g.152309002C>T | CA1105531 | FLG | c.5884G>A (p.Glu1962Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309003_152309014del | CA2647993634 | FLG | c.5873_5884del (p.Gly1958_His1961del)
| gnomAD v4 |
1 | g.152309003del | CA526662219 | FLG | c.5883del (p.His1961GlnfsTer?)
| gnomAD v2 gnomAD v4 |
1 | g.152309003G>A | CA1105533 | FLG | c.5883C>T (p.His1961=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309003G>C | CA342060076 | FLG | c.5883C>G (p.His1961Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309003G= | CA1139987801 | FLG | c.5883C= (p.His1961=)
| |
1 | g.152309003G>T | CA1105532 | FLG | c.5883C>A (p.His1961Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309004T>A | CA342060080 | FLG | c.5882A>T (p.His1961Leu)
| |
1 | g.152309004T>C | CA342060081 | FLG | c.5882A>G (p.His1961Arg)
| |
1 | g.152309004T>G | CA342060084 | FLG | c.5882A>C (p.His1961Pro)
| |
1 | g.152309005G>A | CA1105534 | FLG | c.5881C>T (p.His1961Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309005G>C | CA342060091 | FLG | c.5881C>G (p.His1961Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309005G= | CA2479950029 | FLG | c.5881C= (p.His1961=)
| |
1 | g.152309005G>T | CA342060096 | FLG | c.5881C>A (p.His1961Asn)
| |
1 | g.152309006A= | CA2479950030 | FLG | c.5880T= (p.His1960=)
| |
1 | g.152309006A>C | CA342060103 | FLG | c.5880T>G (p.His1960Gln)
| |
1 | g.152309006A>G | CA1105535 | FLG | c.5880T>C (p.His1960=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309006A>T | CA342060109 | FLG | c.5880T>A (p.His1960Gln)
| |
1 | g.152309007T>A | CA342060115 | FLG | c.5879A>T (p.His1960Leu)
| |
1 | g.152309007T>C | CA342060124 | FLG | c.5879A>G (p.His1960Arg)
| COSMIC |
1 | g.152309007T>G | CA342060120 | FLG | c.5879A>C (p.His1960Pro)
| |
1 | g.152309008G>A | CA342060129 | FLG | c.5878C>T (p.His1960Tyr)
| dbSNP |
1 | g.152309008G>C | CA342060137 | FLG | c.5878C>G (p.His1960Asp)
| |
1 | g.152309008G= | CA2479950031 | FLG | c.5878C= (p.His1960=)
| |
1 | g.152309008G>T | CA342060133 | FLG | c.5878C>A (p.His1960Asn)
| |
1 | g.152309009G>A | CA420929065 | FLG | c.5877C>T (p.Ser1959=)
| gnomAD v4 |
1 | g.152309009G>C | CA420929067 | FLG | c.5877C>G (p.Ser1959=)
| gnomAD v4 |
1 | g.152309009G>T | CA420929066 | FLG | c.5877C>A (p.Ser1959=)
| |
1 | g.152309010G>A | CA342060142 | FLG | c.5876C>T (p.Ser1959Phe)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309010G>C | CA342060149 | FLG | c.5876C>G (p.Ser1959Cys)
| |
1 | g.152309010G= | CA2479950032 | FLG | c.5876C= (p.Ser1959=)
| |
1 | g.152309010G>T | CA342060145 | FLG | c.5876C>A (p.Ser1959Tyr)
| |
1 | g.152309011A= | CA2479950033 | FLG | c.5875T= (p.Ser1959=)
| |
1 | g.152309011A>C | CA342060155 | FLG | c.5875T>G (p.Ser1959Ala)
| |
1 | g.152309011A>G | CA342060165 | FLG | c.5875T>C (p.Ser1959Pro)
| |
1 | g.152309011A>T | CA1105536 | FLG | c.5875T>A (p.Ser1959Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309012C>A | CA420929070 | FLG | c.5874G>T (p.Gly1958=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309012C= | CA2479950034 | FLG | c.5874G= (p.Gly1958=)
| |
1 | g.152309012C>G | CA1105537 | FLG | c.5874G>C (p.Gly1958=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309012C>T | CA420929071 | FLG | c.5874G>A (p.Gly1958=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309014del | CA2574058019 | FLG | c.5874del (p.Ser1959ProfsTer?)
| gnomAD v4 |
1 | g.152309013C>A | CA342060167 | FLG | c.5873G>T (p.Gly1958Val)
| |
1 | g.152309013C= | CA1149127846 | FLG | c.5873G= (p.Gly1958=)
| |
1 | g.152309013C>G | CA1105538 | FLG | c.5873G>C (p.Gly1958Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309013C>T | CA342060175 | FLG | c.5873G>A (p.Gly1958Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309014C>A | CA342060178 | FLG | c.5872G>T (p.Gly1958Trp)
| |
1 | g.152309014C= | CA1144936763 | FLG | c.5872G= (p.Gly1958=)
| |
1 | g.152309014C>G | CA342060186 | FLG | c.5872G>C (p.Gly1958Arg)
| gnomAD v4 |
1 | g.152309014C>T | CA1105539 | FLG | c.5872G>A (p.Gly1958Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309014_152309015delinsTG | CA2580061054 | FLG | c.5871_5872delinsCA (p.Gly1958Arg)
| ClinVar |
1 | g.152309015A= | CA1145993644 | FLG | c.5871T= (p.Pro1957=)
| |
1 | g.152309015A>C | CA1105541 | FLG | c.5871T>G (p.Pro1957=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309015A>G | CA1105540 | FLG | c.5871T>C (p.Pro1957=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309015A>T | CA420929077 | FLG | c.5871T>A (p.Pro1957=)
| |
1 | g.152309016G>A | CA1105542 | FLG | c.5870C>T (p.Pro1957Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309016G>C | CA342060231 | FLG | c.5870C>G (p.Pro1957Arg)
| |
1 | g.152309016G= | CA2479950035 | FLG | c.5870C= (p.Pro1957=)
| |
1 | g.152309016G>T | CA342060237 | FLG | c.5870C>A (p.Pro1957His)
| |
1 | g.152309017G>A | CA342060253 | FLG | c.5869C>T (p.Pro1957Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309017G>C | CA342060254 | FLG | c.5869C>G (p.Pro1957Ala)
| |
1 | g.152309017G= | CA1144202119 | FLG | c.5869C= (p.Pro1957=)
| |
1 | g.152309017G>T | CA1105543 | FLG | c.5869C>A (p.Pro1957Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309018G>A | CA420929080 | FLG | c.5868C>T (p.His1956=)
| COSMIC |
1 | g.152309018G>C | CA342060258 | FLG | c.5868C>G (p.His1956Gln)
| |
1 | g.152309018G= | CA1143751940 | FLG | c.5868C= (p.His1956=)
| |
1 | g.152309018G>T | CA1105544 | FLG | c.5868C>A (p.His1956Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309019T>A | CA1105545 | FLG | c.5867A>T (p.His1956Leu)
| dbSNP ExAC |
1 | g.152309019T>C | CA342060261 | FLG | c.5867A>G (p.His1956Arg)
| |
1 | g.152309019T>G | CA342060264 | FLG | c.5867A>C (p.His1956Pro)
| |
1 | g.152309019T= | CA2479950036 | FLG | c.5867A= (p.His1956=)
| |
1 | g.152309020G>A | CA1105546 | FLG | c.5866C>T (p.His1956Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309020G>C | CA342060275 | FLG | c.5866C>G (p.His1956Asp)
| |
1 | g.152309020G= | CA2479950037 | FLG | c.5866C= (p.His1956=)
| |
1 | g.152309020G>T | CA342060267 | FLG | c.5866C>A (p.His1956Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309021T>A | CA342060276 | FLG | c.5865A>T (p.Arg1955Ser)
| |
1 | g.152309021T>C | CA420929084 | FLG | c.5865A>G (p.Arg1955=)
| gnomAD v4 |
1 | g.152309021T>G | CA342060277 | FLG | c.5865A>C (p.Arg1955Ser)
| |
1 | g.152309022C>A | CA342060282 | FLG | c.5864G>T (p.Arg1955Ile)
| |
1 | g.152309022C= | CA2479950038 | FLG | c.5864G= (p.Arg1955=)
| |
1 | g.152309022C>G | CA342060285 | FLG | c.5864G>C (p.Arg1955Thr)
| |
1 | g.152309022C>T | CA342060288 | FLG | c.5864G>A (p.Arg1955Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309023T>A | CA342060293 | FLG | c.5863A>T (p.Arg1955Ter)
| |
1 | g.152309023T>C | CA1105547 | FLG | c.5863A>G (p.Arg1955Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309023T>G | CA420929099 | FLG | c.5863A>C (p.Arg1955=)
| |
1 | g.152309023T= | CA1144069775 | FLG | c.5863A= (p.Arg1955=)
| |
1 | g.152309024G>A | CA420929100 | FLG | c.5862C>T (p.Ser1954=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309024G>C | CA420929109 | FLG | c.5862C>G (p.Ser1954=)
| |
1 | g.152309024G= | CA2479950039 | FLG | c.5862C= (p.Ser1954=)
| |
1 | g.152309024G>T | CA420929107 | FLG | c.5862C>A (p.Ser1954=)
| |
1 | g.152309025G>A | CA342060296 | FLG | c.5861C>T (p.Ser1954Phe)
| gnomAD v4 |
1 | g.152309025G>C | CA342060300 | FLG | c.5861C>G (p.Ser1954Cys)
| |
1 | g.152309025G= | CA2479950040 | FLG | c.5861C= (p.Ser1954=)
| |
1 | g.152309025G>T | CA342060302 | FLG | c.5861C>A (p.Ser1954Tyr)
| dbSNP gnomAD v4 |
1 | g.152309026A= | CA2479950041 | FLG | c.5860T= (p.Ser1954=)
| |
1 | g.152309026A>C | CA342060307 | FLG | c.5860T>G (p.Ser1954Ala)
| |
1 | g.152309026A>G | CA1105548 | FLG | c.5860T>C (p.Ser1954Pro)
| dbSNP ExAC gnomAD v2 |
1 | g.152309026A>T | CA342060311 | FLG | c.5860T>A (p.Ser1954Thr)
| |
1 | g.152309027G>A | CA420929116 | FLG | c.5859C>T (p.Gly1953=)
| gnomAD v4 |
1 | g.152309027G>C | CA420929117 | FLG | c.5859C>G (p.Gly1953=)
| |
1 | g.152309027G= | CA2479950042 | FLG | c.5859C= (p.Gly1953=)
| |
1 | g.152309027G>T | CA420929118 | FLG | c.5859C>A (p.Gly1953=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309028C>A | CA342060318 | FLG | c.5858G>T (p.Gly1953Val)
| gnomAD v3 gnomAD v4 |
1 | g.152309028C= | CA2479950043 | FLG | c.5858G= (p.Gly1953=)
| |
1 | g.152309028C>G | CA342060323 | FLG | c.5858G>C (p.Gly1953Ala)
| |
1 | g.152309028C>T | CA342060319 | FLG | c.5858G>A (p.Gly1953Asp)
| dbSNP gnomAD v4 |
1 | g.152309029C>A | CA1105549 | FLG | c.5857G>T (p.Gly1953Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309029C= | CA1143457076 | FLG | c.5857G= (p.Gly1953=)
| |
1 | g.152309029C>G | CA342060336 | FLG | c.5857G>C (p.Gly1953Arg)
| |
1 | g.152309029C>T | CA342060340 | FLG | c.5857G>A (p.Gly1953Ser)
| dbSNP gnomAD v4 |
1 | g.152309030A= | CA2479950044 | FLG | c.5856T= (p.Asp1952=)
| |
1 | g.152309030A>C | CA342060344 | FLG | c.5856T>G (p.Asp1952Glu)
| |
1 | g.152309030A>G | CA1105550 | FLG | c.5856T>C (p.Asp1952=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309030A>T | CA342060348 | FLG | c.5856T>A (p.Asp1952Glu)
| |
1 | g.152309030_152309031del | CA2647993640 | FLG | c.5855_5856del (p.Asp1952GlyfsTer?)
| gnomAD v4 |
1 | g.152309031T>A | CA342060354 | FLG | c.5855A>T (p.Asp1952Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309031T>C | CA342060355 | FLG | c.5855A>G (p.Asp1952Gly)
| dbSNP gnomAD v4 |
1 | g.152309031T>G | CA342060360 | FLG | c.5855A>C (p.Asp1952Ala)
| |
1 | g.152309031T= | CA2479950045 | FLG | c.5855A= (p.Asp1952=)
| |
1 | g.152309032C>A | CA342060364 | FLG | c.5854G>T (p.Asp1952Tyr)
| |
1 | g.152309032C= | CA1145151369 | FLG | c.5854G= (p.Asp1952=)
| |
1 | g.152309032C>G | CA1105551 | FLG | c.5854G>C (p.Asp1952His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309032C>T | CA342060370 | FLG | c.5854G>A (p.Asp1952Asn)
| dbSNP |
1 | g.152309033T>A | CA342060376 | FLG | c.5853A>T (p.Arg1951Ser)
| |
1 | g.152309033T>C | CA420929131 | FLG | c.5853A>G (p.Arg1951=)
| |
1 | g.152309033T>G | CA342060378 | FLG | c.5853A>C (p.Arg1951Ser)
| |
1 | g.152309034C>A | CA1105552 | FLG | c.5852G>T (p.Arg1951Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309034C= | CA1143384905 | FLG | c.5852G= (p.Arg1951=)
| |
1 | g.152309034C>G | CA342060389 | FLG | c.5852G>C (p.Arg1951Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309034C>T | CA342060386 | FLG | c.5852G>A (p.Arg1951Lys)
| |
1 | g.152309035T>A | CA342060394 | FLG | c.5851A>T (p.Arg1951Ter)
| |
1 | g.152309035T>C | CA342060395 | FLG | c.5851A>G (p.Arg1951Gly)
| dbSNP |
1 | g.152309035T>G | CA420929136 | FLG | c.5851A>C (p.Arg1951=)
| COSMIC |
1 | g.152309035T= | CA2479950046 | FLG | c.5851A= (p.Arg1951=)
| |
1 | g.152309036T>A | CA420929137 | FLG | c.5850A>T (p.Ser1950=)
| |
1 | g.152309036T>C | CA420929139 | FLG | c.5850A>G (p.Ser1950=)
| |
1 | g.152309036T>G | CA420929140 | FLG | c.5850A>C (p.Ser1950=)
| |
1 | g.152309037G>A | CA1105553 | FLG | c.5849C>T (p.Ser1950Leu)
| dbSNP ExAC gnomAD v4 |
1 | g.152309037G>C | CA30551674 | FLG | c.5849C>G (p.Ser1950Ter)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309037G= | CA1143415169 | FLG | c.5849C= (p.Ser1950=)
| |
1 | g.152309037G>T | CA1105554 | FLG | c.5849C>A (p.Ser1950Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309038A= | CA2479950047 | FLG | c.5848T= (p.Ser1950=)
| |
1 | g.152309038A>C | CA342060406 | FLG | c.5848T>G (p.Ser1950Ala)
| |
1 | g.152309038A>G | CA1105555 | FLG | c.5848T>C (p.Ser1950Pro)
| dbSNP ExAC |
1 | g.152309038A>T | CA342060425 | FLG | c.5848T>A (p.Ser1950Thr)
| |
1 | g.152309039C>A | CA342060429 | FLG | c.5847G>T (p.Gln1949His)
| dbSNP gnomAD v4 |
1 | g.152309039C= | CA2479950048 | FLG | c.5847G= (p.Gln1949=)
| |
1 | g.152309039C>G | CA1105556 | FLG | c.5847G>C (p.Gln1949His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309039C>T | CA420929145 | FLG | c.5847G>A (p.Gln1949=)
| gnomAD v4 |
1 | g.152309040T>A | CA342060443 | FLG | c.5846A>T (p.Gln1949Leu)
| |
1 | g.152309040T>C | CA1105557 | FLG | c.5846A>G (p.Gln1949Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309040T>G | CA342060437 | FLG | c.5846A>C (p.Gln1949Pro)
| |
1 | g.152309040T= | CA1147683142 | FLG | c.5846A= (p.Gln1949=)
| |
1 | g.152309041G>A | CA1105559 | FLG | c.5845C>T (p.Gln1949Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309041G>C | CA1105558 | FLG | c.5845C>G (p.Gln1949Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309041G= | CA1141920947 | FLG | c.5845C= (p.Gln1949=)
| |
1 | g.152309041G>T | CA342060451 | FLG | c.5845C>A (p.Gln1949Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309042C>A | CA342060454 | FLG | c.5844G>T (p.Glu1948Asp)
| |
1 | g.152309042C>G | CA342060459 | FLG | c.5844G>C (p.Glu1948Asp)
| dbSNP gnomAD v4 |
1 | g.152309042C>T | CA420929149 | FLG | c.5844G>A (p.Glu1948=)
| |
1 | g.152309043T>A | CA342060463 | FLG | c.5843A>T (p.Glu1948Val)
| dbSNP |
1 | g.152309043T>C | CA342060466 | FLG | c.5843A>G (p.Glu1948Gly)
| |
1 | g.152309043T>G | CA342060469 | FLG | c.5843A>C (p.Glu1948Ala)
| |
1 | g.152309043T= | CA2479950049 | FLG | c.5843A= (p.Glu1948=)
| |
1 | g.152309044C>A | CA342060476 | FLG | c.5842G>T (p.Glu1948Ter)
| dbSNP gnomAD v4 |
1 | g.152309044C= | CA2479950050 | FLG | c.5842G= (p.Glu1948=)
| |
1 | g.152309044C>G | CA1105560 | FLG | c.5842G>C (p.Glu1948Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309044C>T | CA342060487 | FLG | c.5842G>A (p.Glu1948Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309045C>A | CA1105562 | FLG | c.5841G>T (p.Trp1947Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309045C= | CA1148726034 | FLG | c.5841G= (p.Trp1947=)
| |
1 | g.152309045C>G | CA342060493 | FLG | c.5841G>C (p.Trp1947Cys)
| |
1 | g.152309045C>T | CA1105561 | FLG | c.5841G>A (p.Trp1947Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309046C>A | CA342060498 | FLG | c.5840G>T (p.Trp1947Leu)
| COSMIC |
1 | g.152309046C= | CA1146799236 | FLG | c.5840G= (p.Trp1947=)
| |
1 | g.152309046C>G | CA342060506 | FLG | c.5840G>C (p.Trp1947Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309046C>T | CA1105563 | FLG | c.5840G>A (p.Trp1947Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309046_152309047delinsTG | CA2573051367 | FLG | c.5839_5840delinsCA (p.Trp1947Gln)
| ClinVar |
1 | g.152309047A= | CA1141174378 | FLG | c.5839T= (p.Trp1947=)
| |
1 | g.152309047A>C | CA1105564 | FLG | c.5839T>G (p.Trp1947Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309047A>G | CA1105565 | FLG | c.5839T>C (p.Trp1947Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309047A>T | CA342060522 | FLG | c.5839T>A (p.Trp1947Arg)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309048A= | CA2479950051 | FLG | c.5838T= (p.Ala1946=)
| |
1 | g.152309048A>C | CA420929162 | FLG | c.5838T>G (p.Ala1946=)
| |
1 | g.152309048A>G | CA420929163 | FLG | c.5838T>C (p.Ala1946=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309048A>T | CA420929164 | FLG | c.5838T>A (p.Ala1946=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309049G>A | CA342060527 | FLG | c.5837C>T (p.Ala1946Val)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152309049G>C | CA342060551 | FLG | c.5837C>G (p.Ala1946Gly)
| |
1 | g.152309049G= | CA2479950052 | FLG | c.5837C= (p.Ala1946=)
| |
1 | g.152309049G>T | CA1105566 | FLG | c.5837C>A (p.Ala1946Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309050C>A | CA30551727 | FLG | c.5836G>T (p.Ala1946Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309050C= | CA2479950053 | FLG | c.5836G= (p.Ala1946=)
| |
1 | g.152309050C>G | CA342060562 | FLG | c.5836G>C (p.Ala1946Pro)
| gnomAD v4 |
1 | g.152309050C>T | CA1105567 | FLG | c.5836G>A (p.Ala1946Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152309051A= | CA2479950055 | FLG | c.5835T= (p.Ser1945=)
| |
1 | g.152309051A>C | CA420929170 | FLG | c.5835T>G (p.Ser1945=)
| |
1 | g.152309051A>G | CA420929176 | FLG | c.5835T>C (p.Ser1945=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309051A>T | CA420929175 | FLG | c.5835T>A (p.Ser1945=)
| |
1 | g.152309051_152309054dup | CA2479950054 | FLG | c.5832_5835dup (p.Ala1946IlefsTer?)
| dbSNP |
1 | g.152309052G>A | CA342060574 | FLG | c.5834C>T (p.Ser1945Phe)
| dbSNP gnomAD v4 |
1 | g.152309052G>C | CA342060577 | FLG | c.5834C>G (p.Ser1945Cys)
| dbSNP |
1 | g.152309052G= | CA2479950056 | FLG | c.5834C= (p.Ser1945=)
| |
1 | g.152309052G>T | CA30551731 | FLG | c.5834C>A (p.Ser1945Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309053A= | CA2479950057 | FLG | c.5833T= (p.Ser1945=)
| |
1 | g.152309053A>C | CA342060582 | FLG | c.5833T>G (p.Ser1945Ala)
| |
1 | g.152309053A>G | CA342060587 | FLG | c.5833T>C (p.Ser1945Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309053A>T | CA342060589 | FLG | c.5833T>A (p.Ser1945Thr)
| dbSNP gnomAD v4 |
1 | g.152309054T>A | CA420929181 | FLG | c.5832A>T (p.Gly1944=)
| |
1 | g.152309054T>C | CA420929182 | FLG | c.5832A>G (p.Gly1944=)
| |
1 | g.152309054T>G | CA420929183 | FLG | c.5832A>C (p.Gly1944=)
| |
1 | g.152309055C>A | CA342060593 | FLG | c.5831G>T (p.Gly1944Val)
| |
1 | g.152309055C= | CA2479950058 | FLG | c.5831G= (p.Gly1944=)
| |
1 | g.152309055C>G | CA342060594 | FLG | c.5831G>C (p.Gly1944Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309055C>T | CA342060595 | FLG | c.5831G>A (p.Gly1944Glu)
| |
1 | g.152309056C>A | CA342060600 | FLG | c.5830G>T (p.Gly1944Ter)
| gnomAD v4 |
1 | g.152309056C>G | CA342060617 | FLG | c.5830G>C (p.Gly1944Arg)
| |
1 | g.152309056C>T | CA342060603 | FLG | c.5830G>A (p.Gly1944Arg)
| |
1 | g.152309057A= | CA2479950059 | FLG | c.5829T= (p.Leu1943=)
| |
1 | g.152309057A>C | CA420929190 | FLG | c.5829T>G (p.Leu1943=)
| |
1 | g.152309057A>G | CA420929191 | FLG | c.5829T>C (p.Leu1943=)
| |
1 | g.152309057A>T | CA1105568 | FLG | c.5829T>A (p.Leu1943=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309058A= | CA1141343883 | FLG | c.5828T= (p.Leu1943=)
| |
1 | g.152309058A>C | CA1105570 | FLG | c.5828T>G (p.Leu1943Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309058A>G | CA342060632 | FLG | c.5828T>C (p.Leu1943Pro)
| |
1 | g.152309058A>T | CA1105569 | FLG | c.5828T>A (p.Leu1943His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309058_152309059delinsAG | CA2479950060 | FLG | c.5827_5828delinsCT (p.Leu1943=)
| |
1 | g.152309059del | CA1105571 | FLG | c.5827del (p.Gly1944AspfsTer?)
| dbSNP ExAC gnomAD v2 |
1 | g.152309059G>A | CA1105572 | FLG | c.5827C>T (p.Leu1943Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309059G>C | CA342060652 | FLG | c.5827C>G (p.Leu1943Val)
| dbSNP COSMIC |
1 | g.152309059G= | CA1142104180 | FLG | c.5827C= (p.Leu1943=)
| |
1 | g.152309059G>T | CA30551765 | FLG | c.5827C>A (p.Leu1943Ile)
| dbSNP |
1 | g.152309060A= | CA2479950061 | FLG | c.5826T= (p.His1942=)
| |
1 | g.152309060A>C | CA342060655 | FLG | c.5826T>G (p.His1942Gln)
| dbSNP |
1 | g.152309060A>G | CA1105573 | FLG | c.5826T>C (p.His1942=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309060A>T | CA342060659 | FLG | c.5826T>A (p.His1942Gln)
| |
1 | g.152309061T>A | CA342060662 | FLG | c.5825A>T (p.His1942Leu)
| |
1 | g.152309061T>C | CA342060670 | FLG | c.5825A>G (p.His1942Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309061T>G | CA342060674 | FLG | c.5825A>C (p.His1942Pro)
| |
1 | g.152309061T= | CA2479950062 | FLG | c.5825A= (p.His1942=)
| |
1 | g.152309062G>A | CA342060678 | FLG | c.5824C>T (p.His1942Tyr)
| |
1 | g.152309062G>C | CA342060682 | FLG | c.5824C>G (p.His1942Asp)
| |
1 | g.152309062G>T | CA342060685 | FLG | c.5824C>A (p.His1942Asn)
| COSMIC |
1 | g.152309063G>A | CA1105575 | FLG | c.5823C>T (p.Asn1941=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309063G>C | CA342060693 | FLG | c.5823C>G (p.Asn1941Lys)
| |
1 | g.152309063G= | CA1143426801 | FLG | c.5823C= (p.Asn1941=)
| |
1 | g.152309063G>T | CA1105574 | FLG | c.5823C>A (p.Asn1941Lys)
| dbSNP ExAC |
1 | g.152309063_152309064delinsGT | CA2479950063 | FLG | c.5822_5823delinsAC (p.Asn1941=)
| |
1 | g.152309064T>A | CA342060699 | FLG | c.5822A>T (p.Asn1941Ile)
| |
1 | g.152309064T>C | CA342060707 | FLG | c.5822A>G (p.Asn1941Ser)
| ClinVar dbSNP |
1 | g.152309064T>G | CA342060712 | FLG | c.5822A>C (p.Asn1941Thr)
| |
1 | g.152309064T= | CA2479950064 | FLG | c.5822A= (p.Asn1941=)
| |
1 | g.152309066del | CA526662221 | FLG | c.5822del (p.Asn1941ThrfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152309065T>A | CA342060727 | FLG | c.5821A>T (p.Asn1941Tyr)
| dbSNP |
1 | g.152309065T>C | CA342060717 | FLG | c.5821A>G (p.Asn1941Asp)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152309065T>G | CA342060721 | FLG | c.5821A>C (p.Asn1941His)
| |
1 | g.152309065T= | CA2479950065 | FLG | c.5821A= (p.Asn1941=)
| |
1 | g.152309066T>A | CA342060733 | FLG | c.5820A>T (p.Arg1940Ser)
| |
1 | g.152309066T>C | CA1105576 | FLG | c.5820A>G (p.Arg1940=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309066T>G | CA342060741 | FLG | c.5820A>C (p.Arg1940Ser)
| |
1 | g.152309066T= | CA2479950066 | FLG | c.5820A= (p.Arg1940=)
| |
1 | g.152309067C>A | CA342060752 | FLG | c.5819G>T (p.Arg1940Ile)
| |
1 | g.152309067C>G | CA342060755 | FLG | c.5819G>C (p.Arg1940Thr)
| |
1 | g.152309067C>T | CA342060760 | FLG | c.5819G>A (p.Arg1940Lys)
| |
1 | g.152309068T>A | CA342060764 | FLG | c.5818A>T (p.Arg1940Ter)
| |
1 | g.152309068T>C | CA342060767 | FLG | c.5818A>G (p.Arg1940Gly)
| |
1 | g.152309068T>G | CA420929215 | FLG | c.5818A>C (p.Arg1940=)
| |
1 | g.152309069G>A | CA420929217 | FLG | c.5817C>T (p.Ser1939=)
| |
1 | g.152309069G>C | CA420929219 | FLG | c.5817C>G (p.Ser1939=)
| gnomAD v4 |
1 | g.152309069G>T | CA420929221 | FLG | c.5817C>A (p.Ser1939=)
| |
1 | g.152309070G>A | CA342060778 | FLG | c.5816C>T (p.Ser1939Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152309070G>C | CA1105578 | FLG | c.5816C>G (p.Ser1939Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152309070G= | CA2479950067 | FLG | c.5816C= (p.Ser1939=)
| |
1 | g.152309070G>T | CA342060783 | FLG | c.5816C>A (p.Ser1939Tyr)
| gnomAD v4 |
1 | g.152309070_152309071delinsGA | CA2479950068 | FLG | c.5815_5816delinsTC (p.Ser1939=)
| |