UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152303434G>A | CA1102904 | FLG | c.11452C>T (p.Gln3818Ter) c.9508C>T (p.Gln3170Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303434G>C | CA342057983 | FLG | c.11452C>G (p.Gln3818Glu) c.9508C>G (p.Gln3170Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303434G= | CA1142251314 | FLG | c.11452C= (p.Gln3818=) c.9508C= (p.Gln3170=) | |
| 1 | g.152303434G>T | CA1102905 | FLG | c.11452C>A (p.Gln3818Lys) c.9508C>A (p.Gln3170Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303435T>A | CA342057987 | FLG | c.11451A>T (p.Glu3817Asp) c.9507A>T (p.Glu3169Asp) | |
| 1 | g.152303435T>C | CA420926069 | FLG | c.11451A>G (p.Glu3817=) c.9507A>G (p.Glu3169=) | |
| 1 | g.152303435T>G | CA342057988 | FLG | c.11451A>C (p.Glu3817Asp) c.9507A>C (p.Glu3169Asp) | |
| 1 | g.152303436T>A | CA342057992 | FLG | c.11450A>T (p.Glu3817Val) c.9506A>T (p.Glu3169Val) | |
| 1 | g.152303436T>C | CA342057996 | FLG | c.11450A>G (p.Glu3817Gly) c.9506A>G (p.Glu3169Gly) | gnomAD v4 |
| 1 | g.152303436T>G | CA342057999 | FLG | c.11450A>C (p.Glu3817Ala) c.9506A>C (p.Glu3169Ala) | |
| 1 | g.152303437C>A | CA342058010 | FLG | c.11449G>T (p.Glu3817Ter) c.9505G>T (p.Glu3169Ter) | |
| 1 | g.152303437C= | CA2479946975 | FLG | c.11449G= (p.Glu3817=) c.9505G= (p.Glu3169=) | |
| 1 | g.152303437C>G | CA342058019 | FLG | c.11449G>C (p.Glu3817Gln) c.9505G>C (p.Glu3169Gln) | dbSNP |
| 1 | g.152303437C>T | CA1102906 | FLG | c.11449G>A (p.Glu3817Lys) c.9505G>A (p.Glu3169Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303438C>A | CA342058020 | FLG | c.11448G>T (p.Glu3816Asp) c.9504G>T (p.Glu3168Asp) | dbSNP gnomAD v4 COSMIC |
| 1 | g.152303438C= | CA2479946976 | FLG | c.11448G= (p.Glu3816=) c.9504G= (p.Glu3168=) | |
| 1 | g.152303438C>G | CA342058025 | FLG | c.11448G>C (p.Glu3816Asp) c.9504G>C (p.Glu3168Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303438C>T | CA420926072 | FLG | c.11448G>A (p.Glu3816=) c.9504G>A (p.Glu3168=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303439T>A | CA342058028 | FLG | c.11447A>T (p.Glu3816Val) c.9503A>T (p.Glu3168Val) | |
| 1 | g.152303439T>C | CA342058030 | FLG | c.11447A>G (p.Glu3816Gly) c.9503A>G (p.Glu3168Gly) | gnomAD v4 |
| 1 | g.152303439T>G | CA342058031 | FLG | c.11447A>C (p.Glu3816Ala) c.9503A>C (p.Glu3168Ala) | |
| 1 | g.152303439_152303440insTGT | CA526662110 | FLG | c.11447_11448insCAA (p.Glu3816delinsAspLys) c.9503_9504insCAA (p.Glu3168delinsAspLys) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303440C>A | CA342058033 | FLG | c.11446G>T (p.Glu3816Ter) c.9502G>T (p.Glu3168Ter) | |
| 1 | g.152303440C= | CA2479946977 | FLG | c.11446G= (p.Glu3816=) c.9502G= (p.Glu3168=) | |
| 1 | g.152303440C>G | CA342058037 | FLG | c.11446G>C (p.Glu3816Gln) c.9502G>C (p.Glu3168Gln) | COSMIC |
| 1 | g.152303440C>T | CA342058051 | FLG | c.11446G>A (p.Glu3816Lys) c.9502G>A (p.Glu3168Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303441A= | CA2479946978 | FLG | c.11445T= (p.Asn3815=) c.9501T= (p.Asn3167=) | |
| 1 | g.152303441A>C | CA342058056 | FLG | c.11445T>G (p.Asn3815Lys) c.9501T>G (p.Asn3167Lys) | |
| 1 | g.152303441A>G | CA420926075 | FLG | c.11445T>C (p.Asn3815=) c.9501T>C (p.Asn3167=) | dbSNP gnomAD v4 |
| 1 | g.152303441A>T | CA342058058 | FLG | c.11445T>A (p.Asn3815Lys) c.9501T>A (p.Asn3167Lys) | |
| 1 | g.152303442T>A | CA342058061 | FLG | c.11444A>T (p.Asn3815Ile) c.9500A>T (p.Asn3167Ile) | |
| 1 | g.152303442T>C | CA342058065 | FLG | c.11444A>G (p.Asn3815Ser) c.9500A>G (p.Asn3167Ser) | |
| 1 | g.152303442T>G | CA342058071 | FLG | c.11444A>C (p.Asn3815Thr) c.9500A>C (p.Asn3167Thr) | |
| 1 | g.152303442_152303445delinsTTAC | CA2479946979 | FLG | c.11441_11444delinsGTAA (p.Arg3814=) c.9497_9500delinsGTAA (p.Arg3166=) | |
| 1 | g.152303443T>A | CA342058075 | FLG | c.11443A>T (p.Asn3815Tyr) c.9499A>T (p.Asn3167Tyr) | COSMIC |
| 1 | g.152303443T>C | CA1102907 | FLG | c.11443A>G (p.Asn3815Asp) c.9499A>G (p.Asn3167Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303443T>G | CA342058078 | FLG | c.11443A>C (p.Asn3815His) c.9499A>C (p.Asn3167His) | |
| 1 | g.152303443T= | CA2479946980 | FLG | c.11443A= (p.Asn3815=) c.9499A= (p.Asn3167=) | |
| 1 | g.152303443_152303445del | CA526662111 | FLG | c.11441_11443del (p.Arg3814_Asn3815delinsHis) c.9497_9499del (p.Arg3166_Asn3167delinsHis) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303444A= | CA2479946981 | FLG | c.11442T= (p.Arg3814=) c.9498T= (p.Arg3166=) | |
| 1 | g.152303444A>C | CA420926077 | FLG | c.11442T>G (p.Arg3814=) c.9498T>G (p.Arg3166=) | |
| 1 | g.152303444A>G | CA420926081 | FLG | c.11442T>C (p.Arg3814=) c.9498T>C (p.Arg3166=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303444A>T | CA420926079 | FLG | c.11442T>A (p.Arg3814=) c.9498T>A (p.Arg3166=) | gnomAD v4 |
| 1 | g.152303445C>A | CA342058079 | FLG | c.11441G>T (p.Arg3814Leu) c.9497G>T (p.Arg3166Leu) | gnomAD v4 |
| 1 | g.152303445C= | CA1148321053 | FLG | c.11441G= (p.Arg3814=) c.9497G= (p.Arg3166=) | |
| 1 | g.152303445C>G | CA342058081 | FLG | c.11441G>C (p.Arg3814Pro) c.9497G>C (p.Arg3166Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303445C>T | CA1102908 | FLG | c.11441G>A (p.Arg3814His) c.9497G>A (p.Arg3166His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303446G>A | CA1102909 | FLG | c.11440C>T (p.Arg3814Cys) c.9496C>T (p.Arg3166Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303446G>C | CA342058104 | FLG | c.11440C>G (p.Arg3814Gly) c.9496C>G (p.Arg3166Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303446G= | CA1142102252 | FLG | c.11440C= (p.Arg3814=) c.9496C= (p.Arg3166=) | |
| 1 | g.152303446G>T | CA1102910 | FLG | c.11440C>A (p.Arg3814Ser) c.9496C>A (p.Arg3166Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303447T>A | CA420926083 | FLG | c.11439A>T (p.Thr3813=) c.9495A>T (p.Thr3165=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303447T>C | CA420926082 | FLG | c.11439A>G (p.Thr3813=) c.9495A>G (p.Thr3165=) | |
| 1 | g.152303447T>G | CA1102911 | FLG | c.11439A>C (p.Thr3813=) c.9495A>C (p.Thr3165=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303447T= | CA1143770449 | FLG | c.11439A= (p.Thr3813=) c.9495A= (p.Thr3165=) | |
| 1 | g.152303448G>A | CA342058131 | FLG | c.11438C>T (p.Thr3813Ile) c.9494C>T (p.Thr3165Ile) | |
| 1 | g.152303448G>C | CA342058127 | FLG | c.11438C>G (p.Thr3813Arg) c.9494C>G (p.Thr3165Arg) | gnomAD v4 |
| 1 | g.152303448G>T | CA342058130 | FLG | c.11438C>A (p.Thr3813Lys) c.9494C>A (p.Thr3165Lys) | |
| 1 | g.152303449T>A | CA342058135 | FLG | c.11437A>T (p.Thr3813Ser) c.9493A>T (p.Thr3165Ser) | |
| 1 | g.152303449T>C | CA342058145 | FLG | c.11437A>G (p.Thr3813Ala) c.9493A>G (p.Thr3165Ala) | COSMIC |
| 1 | g.152303449T>G | CA342058146 | FLG | c.11437A>C (p.Thr3813Pro) c.9493A>C (p.Thr3165Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303449T= | CA2479946982 | FLG | c.11437A= (p.Thr3813=) c.9493A= (p.Thr3165=) | |
| 1 | g.152303451del | CA2647993397 | FLG | c.11437del (p.Thr3813HisfsTer?) c.9493del (p.Thr3165HisfsTer?) | gnomAD v4 |
| 1 | g.152303450T>A | CA342058150 | FLG | c.11436A>T (p.Glu3812Asp) c.9492A>T (p.Glu3164Asp) | dbSNP |
| 1 | g.152303450T>C | CA420926085 | FLG | c.11436A>G (p.Glu3812=) c.9492A>G (p.Glu3164=) | |
| 1 | g.152303450T>G | CA342058151 | FLG | c.11436A>C (p.Glu3812Asp) c.9492A>C (p.Glu3164Asp) | |
| 1 | g.152303450T= | CA2479946983 | FLG | c.11436A= (p.Glu3812=) c.9492A= (p.Glu3164=) | |
| 1 | g.152303451T>A | CA342058152 | FLG | c.11435A>T (p.Glu3812Val) c.9491A>T (p.Glu3164Val) | |
| 1 | g.152303451T>C | CA342058154 | FLG | c.11435A>G (p.Glu3812Gly) c.9491A>G (p.Glu3164Gly) | |
| 1 | g.152303451T>G | CA342058155 | FLG | c.11435A>C (p.Glu3812Ala) c.9491A>C (p.Glu3164Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303451T= | CA2479946984 | FLG | c.11435A= (p.Glu3812=) c.9491A= (p.Glu3164=) | |
| 1 | g.152303452C>A | CA342058157 | FLG | c.11434G>T (p.Glu3812Ter) c.9490G>T (p.Glu3164Ter) | gnomAD v4 |
| 1 | g.152303452C= | CA2479946985 | FLG | c.11434G= (p.Glu3812=) c.9490G= (p.Glu3164=) | |
| 1 | g.152303452C>G | CA1102912 | FLG | c.11434G>C (p.Glu3812Gln) c.9490G>C (p.Glu3164Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303452C>T | CA342058162 | FLG | c.11434G>A (p.Glu3812Lys) c.9490G>A (p.Glu3164Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303453T>A | CA342058164 | FLG | c.11433A>T (p.Arg3811Ser) c.9489A>T (p.Arg3163Ser) | |
| 1 | g.152303453T>C | CA420926089 | FLG | c.11433A>G (p.Arg3811=) c.9489A>G (p.Arg3163=) | |
| 1 | g.152303453T>G | CA342058163 | FLG | c.11433A>C (p.Arg3811Ser) c.9489A>C (p.Arg3163Ser) | |
| 1 | g.152303454C>A | CA342058167 | FLG | c.11432G>T (p.Arg3811Ile) c.9488G>T (p.Arg3163Ile) | |
| 1 | g.152303454C= | CA2479946986 | FLG | c.11432G= (p.Arg3811=) c.9488G= (p.Arg3163=) | |
| 1 | g.152303454C>G | CA342058171 | FLG | c.11432G>C (p.Arg3811Thr) c.9488G>C (p.Arg3163Thr) | gnomAD v4 |
| 1 | g.152303454C>T | CA342058173 | FLG | c.11432G>A (p.Arg3811Lys) c.9488G>A (p.Arg3163Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303455T>A | CA1102913 | FLG | c.11431A>T (p.Arg3811Ter) c.9487A>T (p.Arg3163Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303455T>C | CA342058179 | FLG | c.11431A>G (p.Arg3811Gly) c.9487A>G (p.Arg3163Gly) | |
| 1 | g.152303455T>G | CA420926090 | FLG | c.11431A>C (p.Arg3811=) c.9487A>C (p.Arg3163=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303455T= | CA2479946987 | FLG | c.11431A= (p.Arg3811=) c.9487A= (p.Arg3163=) | |
| 1 | g.152303456G>A | CA420926092 | FLG | c.11430C>T (p.Ser3810=) c.9486C>T (p.Ser3162=) | dbSNP gnomAD v4 |
| 1 | g.152303456G>C | CA342058181 | FLG | c.11430C>G (p.Ser3810Arg) c.9486C>G (p.Ser3162Arg) | gnomAD v4 |
| 1 | g.152303456G= | CA2479946988 | FLG | c.11430C= (p.Ser3810=) c.9486C= (p.Ser3162=) | |
| 1 | g.152303456G>T | CA342058196 | FLG | c.11430C>A (p.Ser3810Arg) c.9486C>A (p.Ser3162Arg) | |
| 1 | g.152303457del | CA2647993398 | FLG | c.11429del (p.Ser3810ThrfsTer?) c.9485del (p.Ser3162ThrfsTer?) | gnomAD v4 |
| 1 | g.152303457C>A | CA342058200 | FLG | c.11429G>T (p.Ser3810Ile) c.9485G>T (p.Ser3162Ile) | |
| 1 | g.152303457C>G | CA342058202 | FLG | c.11429G>C (p.Ser3810Thr) c.9485G>C (p.Ser3162Thr) | gnomAD v4 |
| 1 | g.152303457C>T | CA342058207 | FLG | c.11429G>A (p.Ser3810Asn) c.9485G>A (p.Ser3162Asn) | |
| 1 | g.152303458T>A | CA342058210 | FLG | c.11428A>T (p.Ser3810Cys) c.9484A>T (p.Ser3162Cys) | |
| 1 | g.152303458T>C | CA342058211 | FLG | c.11428A>G (p.Ser3810Gly) c.9484A>G (p.Ser3162Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303458T>G | CA342058212 | FLG | c.11428A>C (p.Ser3810Arg) c.9484A>C (p.Ser3162Arg) | |
| 1 | g.152303458T= | CA2479946989 | FLG | c.11428A= (p.Ser3810=) c.9484A= (p.Ser3162=) | |
| 1 | g.152303459T>A | CA420926093 | FLG | c.11427A>T (p.Ala3809=) c.9483A>T (p.Ala3161=) | |
| 1 | g.152303459T>C | CA420926094 | FLG | c.11427A>G (p.Ala3809=) c.9483A>G (p.Ala3161=) | |
| 1 | g.152303459T>G | CA420926095 | FLG | c.11427A>C (p.Ala3809=) c.9483A>C (p.Ala3161=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303459T= | CA2479946990 | FLG | c.11427A= (p.Ala3809=) c.9483A= (p.Ala3161=) | |
| 1 | g.152303460G>A | CA1102914 | FLG | c.11426C>T (p.Ala3809Val) c.9482C>T (p.Ala3161Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303460G>C | CA342058219 | FLG | c.11426C>G (p.Ala3809Gly) c.9482C>G (p.Ala3161Gly) | |
| 1 | g.152303460G= | CA2479946991 | FLG | c.11426C= (p.Ala3809=) c.9482C= (p.Ala3161=) | |
| 1 | g.152303460G>T | CA342058214 | FLG | c.11426C>A (p.Ala3809Glu) c.9482C>A (p.Ala3161Glu) | |
| 1 | g.152303461C>A | CA342058223 | FLG | c.11425G>T (p.Ala3809Ser) c.9481G>T (p.Ala3161Ser) | |
| 1 | g.152303461C>G | CA342058229 | FLG | c.11425G>C (p.Ala3809Pro) c.9481G>C (p.Ala3161Pro) | |
| 1 | g.152303461C>T | CA342058224 | FLG | c.11425G>A (p.Ala3809Thr) c.9481G>A (p.Ala3161Thr) | gnomAD v4 COSMIC |
| 1 | g.152303462A= | CA2479946992 | FLG | c.11424T= (p.Ser3808=) c.9480T= (p.Ser3160=) | |
| 1 | g.152303462A>C | CA342058231 | FLG | c.11424T>G (p.Ser3808Arg) c.9480T>G (p.Ser3160Arg) | gnomAD v4 |
| 1 | g.152303462A>G | CA1102915 | FLG | c.11424T>C (p.Ser3808=) c.9480T>C (p.Ser3160=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303462A>T | CA342058235 | FLG | c.11424T>A (p.Ser3808Arg) c.9480T>A (p.Ser3160Arg) | gnomAD v4 |
| 1 | g.152303463C>A | CA342058242 | FLG | c.11423G>T (p.Ser3808Ile) c.9479G>T (p.Ser3160Ile) | |
| 1 | g.152303463C= | CA1146545425 | FLG | c.11423G= (p.Ser3808=) c.9479G= (p.Ser3160=) | |
| 1 | g.152303463C>G | CA342058244 | FLG | c.11423G>C (p.Ser3808Thr) c.9479G>C (p.Ser3160Thr) | |
| 1 | g.152303463C>T | CA1102916 | FLG | c.11423G>A (p.Ser3808Asn) c.9479G>A (p.Ser3160Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303464T>A | CA342058249 | FLG | c.11422A>T (p.Ser3808Cys) c.9478A>T (p.Ser3160Cys) | |
| 1 | g.152303464T>C | CA1102917 | FLG | c.11422A>G (p.Ser3808Gly) c.9478A>G (p.Ser3160Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303464T>G | CA342058255 | FLG | c.11422A>C (p.Ser3808Arg) c.9478A>C (p.Ser3160Arg) | |
| 1 | g.152303464T= | CA2479946993 | FLG | c.11422A= (p.Ser3808=) c.9478A= (p.Ser3160=) | |
| 1 | g.152303465T>A | CA342058262 | FLG | c.11421A>T (p.Arg3807Ser) c.9477A>T (p.Arg3159Ser) | |
| 1 | g.152303465T>C | CA420926100 | FLG | c.11421A>G (p.Arg3807=) c.9477A>G (p.Arg3159=) | |
| 1 | g.152303465T>G | CA342058267 | FLG | c.11421A>C (p.Arg3807Ser) c.9477A>C (p.Arg3159Ser) | |
| 1 | g.152303466C>A | CA342058277 | FLG | c.11420G>T (p.Arg3807Ile) c.9476G>T (p.Arg3159Ile) | dbSNP gnomAD v4 |
| 1 | g.152303466C= | CA2479946994 | FLG | c.11420G= (p.Arg3807=) c.9476G= (p.Arg3159=) | |
| 1 | g.152303466C>G | CA342058280 | FLG | c.11420G>C (p.Arg3807Thr) c.9476G>C (p.Arg3159Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303466C>T | CA342058283 | FLG | c.11420G>A (p.Arg3807Lys) c.9476G>A (p.Arg3159Lys) | COSMIC |
| 1 | g.152303467T>A | CA342058290 | FLG | c.11419A>T (p.Arg3807Ter) c.9475A>T (p.Arg3159Ter) | |
| 1 | g.152303467T>C | CA342058292 | FLG | c.11419A>G (p.Arg3807Gly) c.9475A>G (p.Arg3159Gly) | gnomAD v4 |
| 1 | g.152303467T>G | CA420926101 | FLG | c.11419A>C (p.Arg3807=) c.9475A>C (p.Arg3159=) | |
| 1 | g.152303468G>A | CA420926102 | FLG | c.11418C>T (p.Ser3806=) c.9474C>T (p.Ser3158=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303468G>C | CA420926103 | FLG | c.11418C>G (p.Ser3806=) c.9474C>G (p.Ser3158=) | |
| 1 | g.152303468G= | CA2479946995 | FLG | c.11418C= (p.Ser3806=) c.9474C= (p.Ser3158=) | |
| 1 | g.152303468G>T | CA420926104 | FLG | c.11418C>A (p.Ser3806=) c.9474C>A (p.Ser3158=) | gnomAD v4 |
| 1 | g.152303469G>A | CA342058301 | FLG | c.11417C>T (p.Ser3806Phe) c.9473C>T (p.Ser3158Phe) | dbSNP |
| 1 | g.152303469G>C | CA342058298 | FLG | c.11417C>G (p.Ser3806Cys) c.9473C>G (p.Ser3158Cys) | |
| 1 | g.152303469G= | CA2479946996 | FLG | c.11417C= (p.Ser3806=) c.9473C= (p.Ser3158=) | |
| 1 | g.152303469G>T | CA342058299 | FLG | c.11417C>A (p.Ser3806Tyr) c.9473C>A (p.Ser3158Tyr) | |
| 1 | g.152303470A>C | CA342058314 | FLG | c.11416T>G (p.Ser3806Ala) c.9472T>G (p.Ser3158Ala) | |
| 1 | g.152303470A>G | CA342058316 | FLG | c.11416T>C (p.Ser3806Pro) c.9472T>C (p.Ser3158Pro) | gnomAD v4 |
| 1 | g.152303470A>T | CA342058318 | FLG | c.11416T>A (p.Ser3806Thr) c.9472T>A (p.Ser3158Thr) | |
| 1 | g.152303471T>A | CA1102918 | FLG | c.11415A>T (p.Gly3805=) c.9471A>T (p.Gly3157=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303471T>C | CA420926107 | FLG | c.11415A>G (p.Gly3805=) c.9471A>G (p.Gly3157=) | dbSNP COSMIC |
| 1 | g.152303471T>G | CA420926106 | FLG | c.11415A>C (p.Gly3805=) c.9471A>C (p.Gly3157=) | |
| 1 | g.152303471T= | CA2479946997 | FLG | c.11415A= (p.Gly3805=) c.9471A= (p.Gly3157=) | |
| 1 | g.152303472C>A | CA342058321 | FLG | c.11414G>T (p.Gly3805Val) c.9470G>T (p.Gly3157Val) | |
| 1 | g.152303472C>G | CA342058322 | FLG | c.11414G>C (p.Gly3805Ala) c.9470G>C (p.Gly3157Ala) | |
| 1 | g.152303472C>T | CA342058323 | FLG | c.11414G>A (p.Gly3805Glu) c.9470G>A (p.Gly3157Glu) | |
| 1 | g.152303473C>A | CA342058324 | FLG | c.11413G>T (p.Gly3805Ter) c.9469G>T (p.Gly3157Ter) | |
| 1 | g.152303473C= | CA2479946998 | FLG | c.11413G= (p.Gly3805=) c.9469G= (p.Gly3157=) | |
| 1 | g.152303473C>G | CA342058326 | FLG | c.11413G>C (p.Gly3805Arg) c.9469G>C (p.Gly3157Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303473C>T | CA342058329 | FLG | c.11413G>A (p.Gly3805Arg) c.9469G>A (p.Gly3157Arg) | |
| 1 | g.152303474T>A | CA420926109 | FLG | c.11412A>T (p.Ser3804=) c.9468A>T (p.Ser3156=) | gnomAD v4 |
| 1 | g.152303474T>C | CA420926110 | FLG | c.11412A>G (p.Ser3804=) c.9468A>G (p.Ser3156=) | |
| 1 | g.152303474T>G | CA420926112 | FLG | c.11412A>C (p.Ser3804=) c.9468A>C (p.Ser3156=) | |
| 1 | g.152303475G>A | CA342058337 | FLG | c.11411C>T (p.Ser3804Leu) c.9467C>T (p.Ser3156Leu) | |
| 1 | g.152303475G>C | CA342058340 | FLG | c.11411C>G (p.Ser3804Ter) c.9467C>G (p.Ser3156Ter) | |
| 1 | g.152303475G>T | CA342058334 | FLG | c.11411C>A (p.Ser3804Ter) c.9467C>A (p.Ser3156Ter) | |
| 1 | g.152303476A>C | CA342058342 | FLG | c.11410T>G (p.Ser3804Ala) c.9466T>G (p.Ser3156Ala) | gnomAD v4 |
| 1 | g.152303476A>G | CA342058345 | FLG | c.11410T>C (p.Ser3804Pro) c.9466T>C (p.Ser3156Pro) | |
| 1 | g.152303476A>T | CA342058347 | FLG | c.11410T>A (p.Ser3804Thr) c.9466T>A (p.Ser3156Thr) | |
| 1 | g.152303477C>A | CA1102919 | FLG | c.11409G>T (p.Gln3803His) c.9465G>T (p.Gln3155His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303477C= | CA1144068239 | FLG | c.11409G= (p.Gln3803=) c.9465G= (p.Gln3155=) | |
| 1 | g.152303477C>G | CA342058355 | FLG | c.11409G>C (p.Gln3803His) c.9465G>C (p.Gln3155His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303477C>T | CA1102920 | FLG | c.11409G>A (p.Gln3803=) c.9465G>A (p.Gln3155=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303478T>A | CA342058361 | FLG | c.11408A>T (p.Gln3803Leu) c.9464A>T (p.Gln3155Leu) | |
| 1 | g.152303478T>C | CA342058371 | FLG | c.11408A>G (p.Gln3803Arg) c.9464A>G (p.Gln3155Arg) | |
| 1 | g.152303478T>G | CA342058363 | FLG | c.11408A>C (p.Gln3803Pro) c.9464A>C (p.Gln3155Pro) | |
| 1 | g.152303478T= | CA2479946999 | FLG | c.11408A= (p.Gln3803=) c.9464A= (p.Gln3155=) | |
| 1 | g.152303479G>A | CA342058379 | FLG | c.11407C>T (p.Gln3803Ter) c.9463C>T (p.Gln3155Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303479G>C | CA342058399 | FLG | c.11407C>G (p.Gln3803Glu) c.9463C>G (p.Gln3155Glu) | gnomAD v4 |
| 1 | g.152303479G= | CA2479947000 | FLG | c.11407C= (p.Gln3803=) c.9463C= (p.Gln3155=) | |
| 1 | g.152303479G>T | CA342058402 | FLG | c.11407C>A (p.Gln3803Lys) c.9463C>A (p.Gln3155Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303479dup | CA889395300 | FLG | c.11407dup (p.Gln3803ProfsTer13) c.9463dup (p.Gln3155ProfsTer13) | dbSNP |
| 1 | g.152303480C>A | CA420926115 | FLG | c.11406G>T (p.Gly3802=) c.9462G>T (p.Gly3154=) | gnomAD v4 |
| 1 | g.152303480C= | CA2479947001 | FLG | c.11406G= (p.Gly3802=) c.9462G= (p.Gly3154=) | |
| 1 | g.152303480C>G | CA420926114 | FLG | c.11406G>C (p.Gly3802=) c.9462G>C (p.Gly3154=) | |
| 1 | g.152303480C>T | CA1102921 | FLG | c.11406G>A (p.Gly3802=) c.9462G>A (p.Gly3154=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303481C>A | CA342058408 | FLG | c.11405G>T (p.Gly3802Val) c.9461G>T (p.Gly3154Val) | |
| 1 | g.152303481C= | CA2479947002 | FLG | c.11405G= (p.Gly3802=) c.9461G= (p.Gly3154=) | |
| 1 | g.152303481C>G | CA342058416 | FLG | c.11405G>C (p.Gly3802Ala) c.9461G>C (p.Gly3154Ala) | |
| 1 | g.152303481C>T | CA1102922 | FLG | c.11405G>A (p.Gly3802Glu) c.9461G>A (p.Gly3154Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303482C>A | CA342058421 | FLG | c.11404G>T (p.Gly3802Trp) c.9460G>T (p.Gly3154Trp) | |
| 1 | g.152303482C= | CA2479947003 | FLG | c.11404G= (p.Gly3802=) c.9460G= (p.Gly3154=) | |
| 1 | g.152303482C>G | CA342058423 | FLG | c.11404G>C (p.Gly3802Arg) c.9460G>C (p.Gly3154Arg) | |
| 1 | g.152303482C>T | CA342058426 | FLG | c.11404G>A (p.Gly3802Arg) c.9460G>A (p.Gly3154Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303483A>C | CA342058429 | FLG | c.11403T>G (p.His3801Gln) c.9459T>G (p.His3153Gln) | |
| 1 | g.152303483A>G | CA420926116 | FLG | c.11403T>C (p.His3801=) c.9459T>C (p.His3153=) | |
| 1 | g.152303483A>T | CA342058432 | FLG | c.11403T>A (p.His3801Gln) c.9459T>A (p.His3153Gln) | |
| 1 | g.152303484T>A | CA1102923 | FLG | c.11402A>T (p.His3801Leu) c.9458A>T (p.His3153Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303484T>C | CA1102924 | FLG | c.11402A>G (p.His3801Arg) c.9458A>G (p.His3153Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303484T>G | CA1102925 | FLG | c.11402A>C (p.His3801Pro) c.9458A>C (p.His3153Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303484T= | CA1141967378 | FLG | c.11402A= (p.His3801=) c.9458A= (p.His3153=) | |
| 1 | g.152303485G>A | CA342058446 | FLG | c.11401C>T (p.His3801Tyr) c.9457C>T (p.His3153Tyr) | |
| 1 | g.152303485G>C | CA342058454 | FLG | c.11401C>G (p.His3801Asp) c.9457C>G (p.His3153Asp) | dbSNP |
| 1 | g.152303485G= | CA2479947004 | FLG | c.11401C= (p.His3801=) c.9457C= (p.His3153=) | |
| 1 | g.152303485G>T | CA342058457 | FLG | c.11401C>A (p.His3801Asn) c.9457C>A (p.His3153Asn) | |
| 1 | g.152303486G>A | CA420926117 | FLG | c.11400C>T (p.Ser3800=) c.9456C>T (p.Ser3152=) | |
| 1 | g.152303486G>C | CA420926120 | FLG | c.11400C>G (p.Ser3800=) c.9456C>G (p.Ser3152=) | |
| 1 | g.152303486G>T | CA420926118 | FLG | c.11400C>A (p.Ser3800=) c.9456C>A (p.Ser3152=) | |
| 1 | g.152303487G>A | CA342058462 | FLG | c.11399C>T (p.Ser3800Phe) c.9455C>T (p.Ser3152Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303487G>C | CA342058464 | FLG | c.11399C>G (p.Ser3800Cys) c.9455C>G (p.Ser3152Cys) | |
| 1 | g.152303487G= | CA2479947005 | FLG | c.11399C= (p.Ser3800=) c.9455C= (p.Ser3152=) | |
| 1 | g.152303487G>T | CA342058460 | FLG | c.11399C>A (p.Ser3800Tyr) c.9455C>A (p.Ser3152Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303488A>C | CA342058469 | FLG | c.11398T>G (p.Ser3800Ala) c.9454T>G (p.Ser3152Ala) | gnomAD v4 |
| 1 | g.152303488A>G | CA342058467 | FLG | c.11398T>C (p.Ser3800Pro) c.9454T>C (p.Ser3152Pro) | |
| 1 | g.152303488A>T | CA342058468 | FLG | c.11398T>A (p.Ser3800Thr) c.9454T>A (p.Ser3152Thr) | |
| 1 | g.152303489G>A | CA420926243 | FLG | c.11397C>T (p.Ala3799=) c.9453C>T (p.Ala3151=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303489G>C | CA420926245 | FLG | c.11397C>G (p.Ala3799=) c.9453C>G (p.Ala3151=) | gnomAD v4 |
| 1 | g.152303489G= | CA2479947006 | FLG | c.11397C= (p.Ala3799=) c.9453C= (p.Ala3151=) | |
| 1 | g.152303489G>T | CA420926247 | FLG | c.11397C>A (p.Ala3799=) c.9453C>A (p.Ala3151=) | |
| 1 | g.152303490G>A | CA1102926 | FLG | c.11396C>T (p.Ala3799Val) c.9452C>T (p.Ala3151Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303490G>C | CA342058474 | FLG | c.11396C>G (p.Ala3799Gly) c.9452C>G (p.Ala3151Gly) | |
| 1 | g.152303490G= | CA1142321846 | FLG | c.11396C= (p.Ala3799=) c.9452C= (p.Ala3151=) | |
| 1 | g.152303490G>T | CA342058480 | FLG | c.11396C>A (p.Ala3799Asp) c.9452C>A (p.Ala3151Asp) | COSMIC |
| 1 | g.152303491C>A | CA342058484 | FLG | c.11395G>T (p.Ala3799Ser) c.9451G>T (p.Ala3151Ser) | |
| 1 | g.152303491C= | CA2479947007 | FLG | c.11395G= (p.Ala3799=) c.9451G= (p.Ala3151=) | |
| 1 | g.152303491C>G | CA342058486 | FLG | c.11395G>C (p.Ala3799Pro) c.9451G>C (p.Ala3151Pro) | |
| 1 | g.152303491C>T | CA342058490 | FLG | c.11395G>A (p.Ala3799Thr) c.9451G>A (p.Ala3151Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303492A>C | CA342058500 | FLG | c.11394T>G (p.Asp3798Glu) c.9450T>G (p.Asp3150Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303492A>G | CA420926251 | FLG | c.11394T>C (p.Asp3798=) c.9450T>C (p.Asp3150=) | |
| 1 | g.152303492A>T | CA342058506 | FLG | c.11394T>A (p.Asp3798Glu) c.9450T>A (p.Asp3150Glu) | |
| 1 | g.152303493T>A | CA342058511 | FLG | c.11393A>T (p.Asp3798Val) c.9449A>T (p.Asp3150Val) | gnomAD v4 |
| 1 | g.152303493T>C | CA342058516 | FLG | c.11393A>G (p.Asp3798Gly) c.9449A>G (p.Asp3150Gly) | |
| 1 | g.152303493T>G | CA342058520 | FLG | c.11393A>C (p.Asp3798Ala) c.9449A>C (p.Asp3150Ala) | |
| 1 | g.152303494C>A | CA342058522 | FLG | c.11392G>T (p.Asp3798Tyr) c.9448G>T (p.Asp3150Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303494C= | CA2479947008 | FLG | c.11392G= (p.Asp3798=) c.9448G= (p.Asp3150=) | |
| 1 | g.152303494C>G | CA342058524 | FLG | c.11392G>C (p.Asp3798His) c.9448G>C (p.Asp3150His) | |
| 1 | g.152303494C>T | CA342058523 | FLG | c.11392G>A (p.Asp3798Asn) c.9448G>A (p.Asp3150Asn) | |
| 1 | g.152303495A>C | CA420926260 | FLG | c.11391T>G (p.Ser3797=) c.9447T>G (p.Ser3149=) | |
| 1 | g.152303495A>G | CA420926262 | FLG | c.11391T>C (p.Ser3797=) c.9447T>C (p.Ser3149=) | |
| 1 | g.152303495A>T | CA420926264 | FLG | c.11391T>A (p.Ser3797=) c.9447T>A (p.Ser3149=) | |
| 1 | g.152303496G>A | CA342058525 | FLG | c.11390C>T (p.Ser3797Phe) c.9446C>T (p.Ser3149Phe) | |
| 1 | g.152303496G>C | CA342058529 | FLG | c.11390C>G (p.Ser3797Cys) c.9446C>G (p.Ser3149Cys) | |
| 1 | g.152303496G>T | CA342058531 | FLG | c.11390C>A (p.Ser3797Tyr) c.9446C>A (p.Ser3149Tyr) | |
| 1 | g.152303497A>C | CA342058541 | FLG | c.11389T>G (p.Ser3797Ala) c.9445T>G (p.Ser3149Ala) | |
| 1 | g.152303497A>G | CA342058542 | FLG | c.11389T>C (p.Ser3797Pro) c.9445T>C (p.Ser3149Pro) | |
| 1 | g.152303497A>T | CA342058544 | FLG | c.11389T>A (p.Ser3797Thr) c.9445T>A (p.Ser3149Thr) | |
| 1 | g.152303498C>A | CA1102927 | FLG | c.11388G>T (p.Arg3796Ser) c.9444G>T (p.Arg3148Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303498C= | CA2479947009 | FLG | c.11388G= (p.Arg3796=) c.9444G= (p.Arg3148=) | |
| 1 | g.152303498C>G | CA342058550 | FLG | c.11388G>C (p.Arg3796Ser) c.9444G>C (p.Arg3148Ser) | gnomAD v4 |
| 1 | g.152303498C>T | CA420926270 | FLG | c.11388G>A (p.Arg3796=) c.9444G>A (p.Arg3148=) | COSMIC |
| 1 | g.152303499C>A | CA342058563 | FLG | c.11387G>T (p.Arg3796Met) c.9443G>T (p.Arg3148Met) | |
| 1 | g.152303499C>G | CA342058565 | FLG | c.11387G>C (p.Arg3796Thr) c.9443G>C (p.Arg3148Thr) | |
| 1 | g.152303499C>T | CA342058572 | FLG | c.11387G>A (p.Arg3796Lys) c.9443G>A (p.Arg3148Lys) | |
| 1 | g.152303500T>A | CA342058577 | FLG | c.11386A>T (p.Arg3796Trp) c.9442A>T (p.Arg3148Trp) | |
| 1 | g.152303500T>C | CA342058576 | FLG | c.11386A>G (p.Arg3796Gly) c.9442A>G (p.Arg3148Gly) | |
| 1 | g.152303500T>G | CA420926271 | FLG | c.11386A>C (p.Arg3796=) c.9442A>C (p.Arg3148=) | |
| 1 | g.152303501T>A | CA30597474 | FLG | c.11385A>T (p.Gly3795=) c.9441A>T (p.Gly3147=) | dbSNP gnomAD v4 |
| 1 | g.152303501T>C | CA420926272 | FLG | c.11385A>G (p.Gly3795=) c.9441A>G (p.Gly3147=) | |
| 1 | g.152303501T>G | CA420926273 | FLG | c.11385A>C (p.Gly3795=) c.9441A>C (p.Gly3147=) | |
| 1 | g.152303501T= | CA1143793211 | FLG | c.11385A= (p.Gly3795=) c.9441A= (p.Gly3147=) | |
| 1 | g.152303502C>A | CA342058583 | FLG | c.11384G>T (p.Gly3795Val) c.9440G>T (p.Gly3147Val) | |
| 1 | g.152303502C= | CA2479947010 | FLG | c.11384G= (p.Gly3795=) c.9440G= (p.Gly3147=) | |
| 1 | g.152303502C>G | CA342058587 | FLG | c.11384G>C (p.Gly3795Ala) c.9440G>C (p.Gly3147Ala) | |
| 1 | g.152303502C>T | CA342058588 | FLG | c.11384G>A (p.Gly3795Glu) c.9440G>A (p.Gly3147Glu) | dbSNP COSMIC |
| 1 | g.152303503C>A | CA342058593 | FLG | c.11383G>T (p.Gly3795Ter) c.9439G>T (p.Gly3147Ter) | |
| 1 | g.152303503C>G | CA342058596 | FLG | c.11383G>C (p.Gly3795Arg) c.9439G>C (p.Gly3147Arg) | |
| 1 | g.152303503C>T | CA342058599 | FLG | c.11383G>A (p.Gly3795Arg) c.9439G>A (p.Gly3147Arg) | COSMIC |
| 1 | g.152303504C>A | CA342058605 | FLG | c.11382G>T (p.Gln3794His) c.9438G>T (p.Gln3146His) | |
| 1 | g.152303504C>G | CA342058601 | FLG | c.11382G>C (p.Gln3794His) c.9438G>C (p.Gln3146His) | |
| 1 | g.152303504C>T | CA420926286 | FLG | c.11382G>A (p.Gln3794=) c.9438G>A (p.Gln3146=) | |
| 1 | g.152303505T>A | CA342058608 | FLG | c.11381A>T (p.Gln3794Leu) c.9437A>T (p.Gln3146Leu) | |
| 1 | g.152303505T>C | CA342058619 | FLG | c.11381A>G (p.Gln3794Arg) c.9437A>G (p.Gln3146Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303505T>G | CA342058627 | FLG | c.11381A>C (p.Gln3794Pro) c.9437A>C (p.Gln3146Pro) | |
| 1 | g.152303505T= | CA2479947011 | FLG | c.11381A= (p.Gln3794=) c.9437A= (p.Gln3146=) | |
| 1 | g.152303506G>A | CA342058634 | FLG | c.11380C>T (p.Gln3794Ter) c.9436C>T (p.Gln3146Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303506G>C | CA342058638 | FLG | c.11380C>G (p.Gln3794Glu) c.9436C>G (p.Gln3146Glu) | |
| 1 | g.152303506G= | CA1146897740 | FLG | c.11380C= (p.Gln3794=) c.9436C= (p.Gln3146=) | |
| 1 | g.152303506G>T | CA1102928 | FLG | c.11380C>A (p.Gln3794Lys) c.9436C>A (p.Gln3146Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303507G>A | CA420926290 | FLG | c.11379C>T (p.Ser3793=) c.9435C>T (p.Ser3145=) | gnomAD v4 |
| 1 | g.152303507G>C | CA420926291 | FLG | c.11379C>G (p.Ser3793=) c.9435C>G (p.Ser3145=) | |
| 1 | g.152303507G>T | CA420926292 | FLG | c.11379C>A (p.Ser3793=) c.9435C>A (p.Ser3145=) | gnomAD v4 |
| 1 | g.152303508G>A | CA342058639 | FLG | c.11378C>T (p.Ser3793Phe) c.9434C>T (p.Ser3145Phe) | |
| 1 | g.152303508G>C | CA342058643 | FLG | c.11378C>G (p.Ser3793Cys) c.9434C>G (p.Ser3145Cys) | |
| 1 | g.152303508G= | CA2479947012 | FLG | c.11378C= (p.Ser3793=) c.9434C= (p.Ser3145=) | |
| 1 | g.152303508G>T | CA1102929 | FLG | c.11378C>A (p.Ser3793Tyr) c.9434C>A (p.Ser3145Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303509A= | CA2479947013 | FLG | c.11377T= (p.Ser3793=) c.9433T= (p.Ser3145=) | |
| 1 | g.152303509A>C | CA342058648 | FLG | c.11377T>G (p.Ser3793Ala) c.9433T>G (p.Ser3145Ala) | |
| 1 | g.152303509A>G | CA342058649 | FLG | c.11377T>C (p.Ser3793Pro) c.9433T>C (p.Ser3145Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303509A>T | CA342058651 | FLG | c.11377T>A (p.Ser3793Thr) c.9433T>A (p.Ser3145Thr) | |
| 1 | g.152303510T>A | CA420926298 | FLG | c.11376A>T (p.Thr3792=) c.9432A>T (p.Thr3144=) | |
| 1 | g.152303510T>C | CA420926299 | FLG | c.11376A>G (p.Thr3792=) c.9432A>G (p.Thr3144=) | |
| 1 | g.152303510T>G | CA420926301 | FLG | c.11376A>C (p.Thr3792=) c.9432A>C (p.Thr3144=) | |
| 1 | g.152303511G>A | CA342058655 | FLG | c.11375C>T (p.Thr3792Ile) c.9431C>T (p.Thr3144Ile) | gnomAD v4 |
| 1 | g.152303511G>C | CA342058664 | FLG | c.11375C>G (p.Thr3792Arg) c.9431C>G (p.Thr3144Arg) | |
| 1 | g.152303511G>T | CA342058665 | FLG | c.11375C>A (p.Thr3792Lys) c.9431C>A (p.Thr3144Lys) | |
| 1 | g.152303512T>A | CA342058666 | FLG | c.11374A>T (p.Thr3792Ser) c.9430A>T (p.Thr3144Ser) | |
| 1 | g.152303512T>C | CA342058668 | FLG | c.11374A>G (p.Thr3792Ala) c.9430A>G (p.Thr3144Ala) | gnomAD v4 |
| 1 | g.152303512T>G | CA342058672 | FLG | c.11374A>C (p.Thr3792Pro) c.9430A>C (p.Thr3144Pro) | |
| 1 | g.152303513G>A | CA420926305 | FLG | c.11373C>T (p.Thr3791=) c.9429C>T (p.Thr3143=) | |
| 1 | g.152303513G>C | CA420926306 | FLG | c.11373C>G (p.Thr3791=) c.9429C>G (p.Thr3143=) | |
| 1 | g.152303513G= | CA2479947014 | FLG | c.11373C= (p.Thr3791=) c.9429C= (p.Thr3143=) | |
| 1 | g.152303513G>T | CA420926307 | FLG | c.11373C>A (p.Thr3791=) c.9429C>A (p.Thr3143=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303514G>A | CA1102930 | FLG | c.11372C>T (p.Thr3791Ile) c.9428C>T (p.Thr3143Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303514G>C | CA342058674 | FLG | c.11372C>G (p.Thr3791Ser) c.9428C>G (p.Thr3143Ser) | gnomAD v4 |
| 1 | g.152303514G= | CA2479947015 | FLG | c.11372C= (p.Thr3791=) c.9428C= (p.Thr3143=) | |
| 1 | g.152303514G>T | CA342058677 | FLG | c.11372C>A (p.Thr3791Asn) c.9428C>A (p.Thr3143Asn) | |
| 1 | g.152303515del | CA645537908 | FLG | c.11371del (p.Thr3791ProfsTer?) c.9427del (p.Thr3143ProfsTer?) | COSMIC |
| 1 | g.152303515T>A | CA342058695 | FLG | c.11371A>T (p.Thr3791Ser) c.9427A>T (p.Thr3143Ser) | |
| 1 | g.152303515T>C | CA342058691 | FLG | c.11371A>G (p.Thr3791Ala) c.9427A>G (p.Thr3143Ala) | |
| 1 | g.152303515T>G | CA342058683 | FLG | c.11371A>C (p.Thr3791Pro) c.9427A>C (p.Thr3143Pro) | |
| 1 | g.152303516G>A | CA420926308 | FLG | c.11370C>T (p.His3790=) c.9426C>T (p.His3142=) | |
| 1 | g.152303516G>C | CA342058705 | FLG | c.11370C>G (p.His3790Gln) c.9426C>G (p.His3142Gln) | |
| 1 | g.152303516G>T | CA342058703 | FLG | c.11370C>A (p.His3790Gln) c.9426C>A (p.His3142Gln) | gnomAD v4 |
| 1 | g.152303517T>A | CA342058708 | FLG | c.11369A>T (p.His3790Leu) c.9425A>T (p.His3142Leu) | |
| 1 | g.152303517T>C | CA342058707 | FLG | c.11369A>G (p.His3790Arg) c.9425A>G (p.His3142Arg) | gnomAD v4 |
| 1 | g.152303517T>G | CA342058709 | FLG | c.11369A>C (p.His3790Pro) c.9425A>C (p.His3142Pro) | |
| 1 | g.152303518G>A | CA342058713 | FLG | c.11368C>T (p.His3790Tyr) c.9424C>T (p.His3142Tyr) | |
| 1 | g.152303518G>C | CA342058719 | FLG | c.11368C>G (p.His3790Asp) c.9424C>G (p.His3142Asp) | |
| 1 | g.152303518G>T | CA342058724 | FLG | c.11368C>A (p.His3790Asn) c.9424C>A (p.His3142Asn) | |
| 1 | g.152303519G>A | CA420926313 | FLG | c.11367C>T (p.Ser3789=) c.9423C>T (p.Ser3141=) | |
| 1 | g.152303519G>C | CA342058730 | FLG | c.11367C>G (p.Ser3789Arg) c.9423C>G (p.Ser3141Arg) | |
| 1 | g.152303519G>T | CA342058734 | FLG | c.11367C>A (p.Ser3789Arg) c.9423C>A (p.Ser3141Arg) | gnomAD v4 |
| 1 | g.152303520C>A | CA342058741 | FLG | c.11366G>T (p.Ser3789Ile) c.9422G>T (p.Ser3141Ile) | |
| 1 | g.152303520C>G | CA342058745 | FLG | c.11366G>C (p.Ser3789Thr) c.9422G>C (p.Ser3141Thr) | |
| 1 | g.152303520C>T | CA342058750 | FLG | c.11366G>A (p.Ser3789Asn) c.9422G>A (p.Ser3141Asn) | |
| 1 | g.152303521T>A | CA342058755 | FLG | c.11365A>T (p.Ser3789Cys) c.9421A>T (p.Ser3141Cys) | |
| 1 | g.152303521T>C | CA342058757 | FLG | c.11365A>G (p.Ser3789Gly) c.9421A>G (p.Ser3141Gly) | dbSNP gnomAD v4 |
| 1 | g.152303521T>G | CA342058763 | FLG | c.11365A>C (p.Ser3789Arg) c.9421A>C (p.Ser3141Arg) | |
| 1 | g.152303521T= | CA2479947016 | FLG | c.11365A= (p.Ser3789=) c.9421A= (p.Ser3141=) | |
| 1 | g.152303522G>A | CA420926318 | FLG | c.11364C>T (p.His3788=) c.9420C>T (p.His3140=) | dbSNP gnomAD v2 |
| 1 | g.152303522G>C | CA342058767 | FLG | c.11364C>G (p.His3788Gln) c.9420C>G (p.His3140Gln) | |
| 1 | g.152303522G= | CA2479947017 | FLG | c.11364C= (p.His3788=) c.9420C= (p.His3140=) | |
| 1 | g.152303522G>T | CA342058770 | FLG | c.11364C>A (p.His3788Gln) c.9420C>A (p.His3140Gln) | |
| 1 | g.152303523T>A | CA342058781 | FLG | c.11363A>T (p.His3788Leu) c.9419A>T (p.His3140Leu) | |
| 1 | g.152303523T>C | CA342058776 | FLG | c.11363A>G (p.His3788Arg) c.9419A>G (p.His3140Arg) | dbSNP |
| 1 | g.152303523T>G | CA342058779 | FLG | c.11363A>C (p.His3788Pro) c.9419A>C (p.His3140Pro) | dbSNP |
| 1 | g.152303523T= | CA2479947018 | FLG | c.11363A= (p.His3788=) c.9419A= (p.His3140=) | |
| 1 | g.152303524G>A | CA342058784 | FLG | c.11362C>T (p.His3788Tyr) c.9418C>T (p.His3140Tyr) | |
| 1 | g.152303524G>C | CA342058786 | FLG | c.11362C>G (p.His3788Asp) c.9418C>G (p.His3140Asp) | dbSNP |
| 1 | g.152303524G= | CA2479947019 | FLG | c.11362C= (p.His3788=) c.9418C= (p.His3140=) | |
| 1 | g.152303524G>T | CA342058788 | FLG | c.11362C>A (p.His3788Asn) c.9418C>A (p.His3140Asn) | |
| 1 | g.152303525A= | CA2479947020 | FLG | c.11361T= (p.His3787=) c.9417T= (p.His3139=) | |
| 1 | g.152303525A>C | CA342058793 | FLG | c.11361T>G (p.His3787Gln) c.9417T>G (p.His3139Gln) | |
| 1 | g.152303525A>G | CA420926320 | FLG | c.11361T>C (p.His3787=) c.9417T>C (p.His3139=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303525A>T | CA342058798 | FLG | c.11361T>A (p.His3787Gln) c.9417T>A (p.His3139Gln) | gnomAD v4 |
| 1 | g.152303526T>A | CA342058799 | FLG | c.11360A>T (p.His3787Leu) c.9416A>T (p.His3139Leu) | |
| 1 | g.152303526T>C | CA342058800 | FLG | c.11360A>G (p.His3787Arg) c.9416A>G (p.His3139Arg) | dbSNP COSMIC |
| 1 | g.152303526T>G | CA342058801 | FLG | c.11360A>C (p.His3787Pro) c.9416A>C (p.His3139Pro) | |
| 1 | g.152303526T= | CA2479947021 | FLG | c.11360A= (p.His3787=) c.9416A= (p.His3139=) | |
| 1 | g.152303527G>A | CA30597516 | FLG | c.11359C>T (p.His3787Tyr) c.9415C>T (p.His3139Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303527G>C | CA342058816 | FLG | c.11359C>G (p.His3787Asp) c.9415C>G (p.His3139Asp) | |
| 1 | g.152303527G= | CA1146229566 | FLG | c.11359C= (p.His3787=) c.9415C= (p.His3139=) | |
| 1 | g.152303527G>T | CA342058818 | FLG | c.11359C>A (p.His3787Asn) c.9415C>A (p.His3139Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303528G>A | CA1102931 | FLG | c.11358C>T (p.Ser3786=) c.9414C>T (p.Ser3138=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303528G>C | CA1102932 | FLG | c.11358C>G (p.Ser3786=) c.9414C>G (p.Ser3138=) | dbSNP ExAC gnomAD v2 |
| 1 | g.152303528G= | CA1143960248 | FLG | c.11358C= (p.Ser3786=) c.9414C= (p.Ser3138=) | |
| 1 | g.152303528G>T | CA1102933 | FLG | c.11358C>A (p.Ser3786=) c.9414C>A (p.Ser3138=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303529G>A | CA342058840 | FLG | c.11357C>T (p.Ser3786Phe) c.9413C>T (p.Ser3138Phe) | gnomAD v4 |
| 1 | g.152303529G>C | CA342058845 | FLG | c.11357C>G (p.Ser3786Cys) c.9413C>G (p.Ser3138Cys) | |
| 1 | g.152303529G>T | CA342058849 | FLG | c.11357C>A (p.Ser3786Tyr) c.9413C>A (p.Ser3138Tyr) | gnomAD v4 |
| 1 | g.152303530A>C | CA342058855 | FLG | c.11356T>G (p.Ser3786Ala) c.9412T>G (p.Ser3138Ala) | |
| 1 | g.152303530A>G | CA342058859 | FLG | c.11356T>C (p.Ser3786Pro) c.9412T>C (p.Ser3138Pro) | |
| 1 | g.152303530A>T | CA342058861 | FLG | c.11356T>A (p.Ser3786Thr) c.9412T>A (p.Ser3138Thr) | |
| 1 | g.152303531C>A | CA1102934 | FLG | c.11355G>T (p.Gly3785=) c.9411G>T (p.Gly3137=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303531C= | CA2479947022 | FLG | c.11355G= (p.Gly3785=) c.9411G= (p.Gly3137=) | |
| 1 | g.152303531C>G | CA420926323 | FLG | c.11355G>C (p.Gly3785=) c.9411G>C (p.Gly3137=) | |
| 1 | g.152303531C>T | CA420926324 | FLG | c.11355G>A (p.Gly3785=) c.9411G>A (p.Gly3137=) | gnomAD v4 |
| 1 | g.152303532C>A | CA1102935 | FLG | c.11354G>T (p.Gly3785Val) c.9410G>T (p.Gly3137Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303532C= | CA2479947023 | FLG | c.11354G= (p.Gly3785=) c.9410G= (p.Gly3137=) | |
| 1 | g.152303532C>G | CA342058871 | FLG | c.11354G>C (p.Gly3785Ala) c.9410G>C (p.Gly3137Ala) | |
| 1 | g.152303532C>T | CA342058874 | FLG | c.11354G>A (p.Gly3785Glu) c.9410G>A (p.Gly3137Glu) | |
| 1 | g.152303533C>A | CA342058879 | FLG | c.11353G>T (p.Gly3785Trp) c.9409G>T (p.Gly3137Trp) | dbSNP gnomAD v4 COSMIC |
| 1 | g.152303533C= | CA2479947024 | FLG | c.11353G= (p.Gly3785=) c.9409G= (p.Gly3137=) | |
| 1 | g.152303533C>G | CA342058884 | FLG | c.11353G>C (p.Gly3785Arg) c.9409G>C (p.Gly3137Arg) | gnomAD v4 |
| 1 | g.152303533C>T | CA342058885 | FLG | c.11353G>A (p.Gly3785Arg) c.9409G>A (p.Gly3137Arg) | gnomAD v4 |
| 1 | g.152303534T>A | CA420926328 | FLG | c.11352A>T (p.Ser3784=) c.9408A>T (p.Ser3136=) | |
| 1 | g.152303534T>C | CA420926329 | FLG | c.11352A>G (p.Ser3784=) c.9408A>G (p.Ser3136=) | |
| 1 | g.152303534T>G | CA420926330 | FLG | c.11352A>C (p.Ser3784=) c.9408A>C (p.Ser3136=) |