| 1 | g.152312339T>A | CA342088957 | FLG | c.2547A>T (p.Arg849Ser)
| dbSNP gnomAD v4 |
| 1 | g.152312339T>C | CA420930570 | FLG | c.2547A>G (p.Arg849=)
| gnomAD v4 |
| 1 | g.152312339T>G | CA342088959 | FLG | c.2547A>C (p.Arg849Ser)
| |
| 1 | g.152312339T= | CA2479951867 | FLG | c.2547A= (p.Arg849=)
| |
| 1 | g.152312340C>A | CA342088961 | FLG | c.2546G>T (p.Arg849Ile)
| |
| 1 | g.152312340C= | CA2479951868 | FLG | c.2546G= (p.Arg849=)
| |
| 1 | g.152312340C>G | CA342088964 | FLG | c.2546G>C (p.Arg849Thr)
| dbSNP |
| 1 | g.152312340C>T | CA342088967 | FLG | c.2546G>A (p.Arg849Lys)
| |
| 1 | g.152312341T>A | CA342088968 | FLG | c.2545A>T (p.Arg849Ter)
| |
| 1 | g.152312341T>C | CA342088970 | FLG | c.2545A>G (p.Arg849Gly)
| |
| 1 | g.152312341T>G | CA1107115 | FLG | c.2545A>C (p.Arg849=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312341T= | CA2479951869 | FLG | c.2545A= (p.Arg849=)
| |
| 1 | g.152312342G>A | CA420930571 | FLG | c.2544C>T (p.Ser848=)
| |
| 1 | g.152312342G>C | CA342088975 | FLG | c.2544C>G (p.Ser848Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312342G= | CA1148427593 | FLG | c.2544C= (p.Ser848=)
| |
| 1 | g.152312342G>T | CA1107116 | FLG | c.2544C>A (p.Ser848Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312343C>A | CA342088980 | FLG | c.2543G>T (p.Ser848Ile)
| |
| 1 | g.152312343C= | CA1143770818 | FLG | c.2543G= (p.Ser848=)
| |
| 1 | g.152312343C>G | CA342088981 | FLG | c.2543G>C (p.Ser848Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312343C>T | CA1107117 | FLG | c.2543G>A (p.Ser848Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312344T>A | CA342088986 | FLG | c.2542A>T (p.Ser848Cys)
| |
| 1 | g.152312344T>C | CA342088988 | FLG | c.2542A>G (p.Ser848Gly)
| |
| 1 | g.152312344T>G | CA342088991 | FLG | c.2542A>C (p.Ser848Arg)
| |
| 1 | g.152312345T>A | CA1107119 | FLG | c.2541A>T (p.Ser847=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312345T>C | CA420930572 | FLG | c.2541A>G (p.Ser847=)
| |
| 1 | g.152312345T>G | CA420930573 | FLG | c.2541A>C (p.Ser847=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312345T= | CA1144930760 | FLG | c.2541A= (p.Ser847=)
| |
| 1 | g.152312345_152312346delinsTG | CA2479951870 | FLG | c.2540_2541delinsCA (p.Ser847=)
| |
| 1 | g.152312346del | CA1107118 | FLG | c.2540del (p.Ser847Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312346G>A | CA342089004 | FLG | c.2540C>T (p.Ser847Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312346G>C | CA342089002 | FLG | c.2540C>G (p.Ser847Ter)
| |
| 1 | g.152312346G= | CA2479951871 | FLG | c.2540C= (p.Ser847=)
| |
| 1 | g.152312346G>T | CA342088997 | FLG | c.2540C>A (p.Ser847Ter)
| dbSNP gnomAD v2 |
| 1 | g.152312347del | CA342089018 | FLG | c.2539del (p.Ser847GlnfsTer15)
| gnomAD v4 |
| 1 | g.152312347A= | CA1140876380 | FLG | c.2539T= (p.Ser847=)
| |
| 1 | g.152312347A>C | CA342089011 | FLG | c.2539T>G (p.Ser847Ala)
| gnomAD v3 gnomAD v4 |
| 1 | g.152312347A>G | CA342089012 | FLG | c.2539T>C (p.Ser847Pro)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312347A>T | CA1107120 | FLG | c.2539T>A (p.Ser847Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312348C>A | CA420930574 | FLG | c.2538G>T (p.Gly846=)
| |
| 1 | g.152312348C= | CA1147427653 | FLG | c.2538G= (p.Gly846=)
| |
| 1 | g.152312348C>G | CA420930575 | FLG | c.2538G>C (p.Gly846=)
| |
| 1 | g.152312348C>T | CA30561603 | FLG | c.2538G>A (p.Gly846=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312351del | CA2647993754 | FLG | c.2538del (p.Ser847GlnfsTer15)
| gnomAD v4 |
| 1 | g.152312349C>A | CA342089028 | FLG | c.2537G>T (p.Gly846Val)
| |
| 1 | g.152312349C= | CA2479951872 | FLG | c.2537G= (p.Gly846=)
| |
| 1 | g.152312349C>G | CA342089026 | FLG | c.2537G>C (p.Gly846Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312349C>T | CA342089024 | FLG | c.2537G>A (p.Gly846Glu)
| gnomAD v4 |
| 1 | g.152312350C>A | CA1107122 | FLG | c.2536G>T (p.Gly846Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312350C= | CA2479951873 | FLG | c.2536G= (p.Gly846=)
| |
| 1 | g.152312350C>G | CA342089033 | FLG | c.2536G>C (p.Gly846Arg)
| gnomAD v4 |
| 1 | g.152312350C>T | CA1107121 | FLG | c.2536G>A (p.Gly846Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152312351C>A | CA420930576 | FLG | c.2535G>T (p.Pro845=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312351C= | CA1142213538 | FLG | c.2535G= (p.Pro845=)
| |
| 1 | g.152312351C>G | CA420930577 | FLG | c.2535G>C (p.Pro845=)
| dbSNP |
| 1 | g.152312351C>T | CA1107123 | FLG | c.2535G>A (p.Pro845=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312351_152312352delinsCG | CA2479951874 | FLG | c.2534_2535delinsCG (p.Pro845=)
| |
| 1 | g.152312352G>A | CA1107124 | FLG | c.2534C>T (p.Pro845Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312352G>C | CA342089038 | FLG | c.2534C>G (p.Pro845Arg)
| COSMIC |
| 1 | g.152312352G= | CA2479951875 | FLG | c.2534C= (p.Pro845=)
| |
| 1 | g.152312352G>T | CA342089040 | FLG | c.2534C>A (p.Pro845Gln)
| gnomAD v4 |
| 1 | g.152312354del | CA889442304 | FLG | c.2534del (p.Pro845ArgfsTer17)
| dbSNP |
| 1 | g.152312353G>A | CA342089045 | FLG | c.2533C>T (p.Pro845Ser)
| |
| 1 | g.152312353G>C | CA342089047 | FLG | c.2533C>G (p.Pro845Ala)
| |
| 1 | g.152312353G>T | CA342089050 | FLG | c.2533C>A (p.Pro845Thr)
| |
| 1 | g.152312354G>A | CA420930579 | FLG | c.2532C>T (p.His844=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312354G>C | CA30561634 | FLG | c.2532C>G (p.His844Gln)
| dbSNP gnomAD v4 |
| 1 | g.152312354G= | CA2479951876 | FLG | c.2532C= (p.His844=)
| |
| 1 | g.152312354G>T | CA342089053 | FLG | c.2532C>A (p.His844Gln)
| dbSNP |
| 1 | g.152312355T>A | CA342089056 | FLG | c.2531A>T (p.His844Leu)
| |
| 1 | g.152312355T>C | CA1107125 | FLG | c.2531A>G (p.His844Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312355T>G | CA342089059 | FLG | c.2531A>C (p.His844Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312355T= | CA1145055881 | FLG | c.2531A= (p.His844=)
| |
| 1 | g.152312356G>A | CA342089063 | FLG | c.2530C>T (p.His844Tyr)
| dbSNP gnomAD v4 |
| 1 | g.152312356G>C | CA342089064 | FLG | c.2530C>G (p.His844Asp)
| |
| 1 | g.152312356G= | CA2479951877 | FLG | c.2530C= (p.His844=)
| |
| 1 | g.152312356G>T | CA342089067 | FLG | c.2530C>A (p.His844Asn)
| COSMIC |
| 1 | g.152312357T>A | CA420930583 | FLG | c.2529A>T (p.Gly843=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312357T>C | CA420930581 | FLG | c.2529A>G (p.Gly843=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312357T>G | CA420930582 | FLG | c.2529A>C (p.Gly843=)
| |
| 1 | g.152312357T= | CA2479951878 | FLG | c.2529A= (p.Gly843=)
| |
| 1 | g.152312358C>A | CA342089080 | FLG | c.2528G>T (p.Gly843Val)
| |
| 1 | g.152312358C= | CA1146582790 | FLG | c.2528G= (p.Gly843=)
| |
| 1 | g.152312358C>G | CA1107126 | FLG | c.2528G>C (p.Gly843Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312358C>T | CA342089069 | FLG | c.2528G>A (p.Gly843Glu)
| gnomAD v4 |
| 1 | g.152312359C>A | CA342089082 | FLG | c.2527G>T (p.Gly843Ter)
| gnomAD v4 |
| 1 | g.152312359C= | CA2479951879 | FLG | c.2527G= (p.Gly843=)
| |
| 1 | g.152312359C>G | CA342089083 | FLG | c.2527G>C (p.Gly843Arg)
| |
| 1 | g.152312359C>T | CA342089085 | FLG | c.2527G>A (p.Gly843Arg)
| dbSNP gnomAD v4 |
| 1 | g.152312360A>C | CA420930585 | FLG | c.2526T>G (p.Arg842=)
| |
| 1 | g.152312360A>G | CA420930589 | FLG | c.2526T>C (p.Arg842=)
| gnomAD v4 |
| 1 | g.152312360A>T | CA420930587 | FLG | c.2526T>A (p.Arg842=)
| gnomAD v4 |
| 1 | g.152312361C>A | CA1107127 | FLG | c.2525G>T (p.Arg842Leu)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152312361C= | CA1143979892 | FLG | c.2525G= (p.Arg842=)
| |
| 1 | g.152312361C>G | CA1107129 | FLG | c.2525G>C (p.Arg842Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312361C>T | CA1107128 | FLG | c.2525G>A (p.Arg842His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312362G>A | CA1107130 | FLG | c.2524C>T (p.Arg842Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312362G>C | CA342089095 | FLG | c.2524C>G (p.Arg842Gly)
| dbSNP |
| 1 | g.152312362G= | CA2479951880 | FLG | c.2524C= (p.Arg842=)
| |
| 1 | g.152312362G>T | CA342089097 | FLG | c.2524C>A (p.Arg842Ser)
| gnomAD v4 |
| 1 | g.152312363A>C | CA342089100 | FLG | c.2523T>G (p.Ile841Met)
| |
| 1 | g.152312363A>G | CA420930590 | FLG | c.2523T>C (p.Ile841=)
| |
| 1 | g.152312363A>T | CA420930591 | FLG | c.2523T>A (p.Ile841=)
| gnomAD v4 |
| 1 | g.152312364A= | CA2479951881 | FLG | c.2522T= (p.Ile841=)
| |
| 1 | g.152312364A>C | CA342089103 | FLG | c.2522T>G (p.Ile841Ser)
| dbSNP gnomAD v4 |
| 1 | g.152312364A>G | CA342089104 | FLG | c.2522T>C (p.Ile841Thr)
| |
| 1 | g.152312364A>T | CA342089106 | FLG | c.2522T>A (p.Ile841Asn)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312365T>A | CA342089111 | FLG | c.2521A>T (p.Ile841Phe)
| |
| 1 | g.152312365T>C | CA342089113 | FLG | c.2521A>G (p.Ile841Val)
| gnomAD v4 |
| 1 | g.152312365T>G | CA342089109 | FLG | c.2521A>C (p.Ile841Leu)
| |
| 1 | g.152312366G>A | CA420930593 | FLG | c.2520C>T (p.Thr840=)
| gnomAD v4 |
| 1 | g.152312366G>C | CA420930595 | FLG | c.2520C>G (p.Thr840=)
| |
| 1 | g.152312366G>T | CA420930596 | FLG | c.2520C>A (p.Thr840=)
| gnomAD v4 |
| 1 | g.152312367G>A | CA342089116 | FLG | c.2519C>T (p.Thr840Ile)
| gnomAD v4 |
| 1 | g.152312367G>C | CA342089118 | FLG | c.2519C>G (p.Thr840Ser)
| dbSNP gnomAD v2 |
| 1 | g.152312367G= | CA1143576844 | FLG | c.2519C= (p.Thr840=)
| |
| 1 | g.152312367G>T | CA1107131 | FLG | c.2519C>A (p.Thr840Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312368T>A | CA342089122 | FLG | c.2518A>T (p.Thr840Ser)
| |
| 1 | g.152312368T>C | CA1107132 | FLG | c.2518A>G (p.Thr840Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312368T>G | CA342089126 | FLG | c.2518A>C (p.Thr840Pro)
| |
| 1 | g.152312368T= | CA2479951882 | FLG | c.2518A= (p.Thr840=)
| |
| 1 | g.152312369G>A | CA420930598 | FLG | c.2517C>T (p.Asp839=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312369G>C | CA342089129 | FLG | c.2517C>G (p.Asp839Glu)
| |
| 1 | g.152312369G= | CA2479951883 | FLG | c.2517C= (p.Asp839=)
| |
| 1 | g.152312369G>T | CA342089131 | FLG | c.2517C>A (p.Asp839Glu)
| gnomAD v4 |
| 1 | g.152312370T>A | CA1107133 | FLG | c.2516A>T (p.Asp839Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312370T>C | CA342089137 | FLG | c.2516A>G (p.Asp839Gly)
| |
| 1 | g.152312370T>G | CA342089139 | FLG | c.2516A>C (p.Asp839Ala)
| |
| 1 | g.152312370T= | CA1147612268 | FLG | c.2516A= (p.Asp839=)
| |
| 1 | g.152312371C>A | CA1107134 | FLG | c.2515G>T (p.Asp839Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312371C= | CA2479951884 | FLG | c.2515G= (p.Asp839=)
| |
| 1 | g.152312371C>G | CA342089144 | FLG | c.2515G>C (p.Asp839His)
| gnomAD v4 |
| 1 | g.152312371C>T | CA342089141 | FLG | c.2515G>A (p.Asp839Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312372C>A | CA342089147 | FLG | c.2514G>T (p.Gln838His)
| |
| 1 | g.152312372C>G | CA342089149 | FLG | c.2514G>C (p.Gln838His)
| |
| 1 | g.152312372C>T | CA420930602 | FLG | c.2514G>A (p.Gln838=)
| |
| 1 | g.152312373T>A | CA342089152 | FLG | c.2513A>T (p.Gln838Leu)
| |
| 1 | g.152312373T>C | CA342089155 | FLG | c.2513A>G (p.Gln838Arg)
| |
| 1 | g.152312373T>G | CA342089158 | FLG | c.2513A>C (p.Gln838Pro)
| |
| 1 | g.152312374G>A | CA342089161 | FLG | c.2512C>T (p.Gln838Ter)
| |
| 1 | g.152312374G>C | CA342089163 | FLG | c.2512C>G (p.Gln838Glu)
| |
| 1 | g.152312374G>T | CA342089164 | FLG | c.2512C>A (p.Gln838Lys)
| COSMIC |
| 1 | g.152312375A= | CA2479951885 | FLG | c.2511T= (p.Gly837=)
| |
| 1 | g.152312375A>C | CA420930604 | FLG | c.2511T>G (p.Gly837=)
| |
| 1 | g.152312375A>G | CA30561654 | FLG | c.2511T>C (p.Gly837=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312375A>T | CA420930603 | FLG | c.2511T>A (p.Gly837=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312376C>A | CA342089169 | FLG | c.2510G>T (p.Gly837Val)
| dbSNP |
| 1 | g.152312376C= | CA2479951886 | FLG | c.2510G= (p.Gly837=)
| |
| 1 | g.152312376C>G | CA342089173 | FLG | c.2510G>C (p.Gly837Ala)
| |
| 1 | g.152312376C>T | CA342089177 | FLG | c.2510G>A (p.Gly837Asp)
| |
| 1 | g.152312377C>A | CA342089185 | FLG | c.2509G>T (p.Gly837Cys)
| gnomAD v4 |
| 1 | g.152312377C= | CA1140992222 | FLG | c.2509G= (p.Gly837=)
| |
| 1 | g.152312377C>G | CA342089182 | FLG | c.2509G>C (p.Gly837Arg)
| |
| 1 | g.152312377C>T | CA1107135 | FLG | c.2509G>A (p.Gly837Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312378A= | CA1139986951 | FLG | c.2508T= (p.Asp836=)
| |
| 1 | g.152312378A>C | CA1107137 | FLG | c.2508T>G (p.Asp836Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312378A>G | CA1107136 | FLG | c.2508T>C (p.Asp836=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312378A>T | CA342089191 | FLG | c.2508T>A (p.Asp836Glu)
| gnomAD v4 |
| 1 | g.152312379T>A | CA342089195 | FLG | c.2507A>T (p.Asp836Val)
| |
| 1 | g.152312379T>C | CA1107138 | FLG | c.2507A>G (p.Asp836Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312379T>G | CA342089201 | FLG | c.2507A>C (p.Asp836Ala)
| |
| 1 | g.152312379T= | CA2479951887 | FLG | c.2507A= (p.Asp836=)
| |
| 1 | g.152312380C>A | CA1107139 | FLG | c.2506G>T (p.Asp836Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312380C= | CA2479951888 | FLG | c.2506G= (p.Asp836=)
| |
| 1 | g.152312380C>G | CA342089208 | FLG | c.2506G>C (p.Asp836His)
| |
| 1 | g.152312380C>T | CA1107140 | FLG | c.2506G>A (p.Asp836Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152312381T>A | CA1107141 | FLG | c.2505A>T (p.Gln835His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312381T>C | CA420930608 | FLG | c.2505A>G (p.Gln835=)
| |
| 1 | g.152312381T>G | CA342089218 | FLG | c.2505A>C (p.Gln835His)
| |
| 1 | g.152312381T= | CA2479951889 | FLG | c.2505A= (p.Gln835=)
| |
| 1 | g.152312382T>A | CA342089222 | FLG | c.2504A>T (p.Gln835Leu)
| |
| 1 | g.152312382T>C | CA342089223 | FLG | c.2504A>G (p.Gln835Arg)
| |
| 1 | g.152312382T>G | CA30561733 | FLG | c.2504A>C (p.Gln835Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312382T= | CA1144146072 | FLG | c.2504A= (p.Gln835=)
| |
| 1 | g.152312383G>A | CA342089236 | FLG | c.2503C>T (p.Gln835Ter)
| dbSNP gnomAD v4 |
| 1 | g.152312383G>C | CA342089229 | FLG | c.2503C>G (p.Gln835Glu)
| dbSNP |
| 1 | g.152312383G= | CA2479951890 | FLG | c.2503C= (p.Gln835=)
| |
| 1 | g.152312383G>T | CA342089234 | FLG | c.2503C>A (p.Gln835Lys)
| COSMIC |
| 1 | g.152312384G>A | CA420930611 | FLG | c.2502C>T (p.Ser834=)
| gnomAD v4 |
| 1 | g.152312384G>C | CA420930612 | FLG | c.2502C>G (p.Ser834=)
| |
| 1 | g.152312384G= | CA2479951891 | FLG | c.2502C= (p.Ser834=)
| |
| 1 | g.152312384G>T | CA420930613 | FLG | c.2502C>A (p.Ser834=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312385G>A | CA1107143 | FLG | c.2501C>T (p.Ser834Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312385G>C | CA1107142 | FLG | c.2501C>G (p.Ser834Cys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312385G= | CA2479951892 | FLG | c.2501C= (p.Ser834=)
| |
| 1 | g.152312385G>T | CA342089243 | FLG | c.2501C>A (p.Ser834Tyr)
| |
| 1 | g.152312386A>C | CA342089247 | FLG | c.2500T>G (p.Ser834Ala)
| |
| 1 | g.152312386A>G | CA342089250 | FLG | c.2500T>C (p.Ser834Pro)
| |
| 1 | g.152312386A>T | CA342089253 | FLG | c.2500T>A (p.Ser834Thr)
| |
| 1 | g.152312387T>A | CA420930616 | FLG | c.2499A>T (p.Ala833=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312387T>C | CA420930615 | FLG | c.2499A>G (p.Ala833=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312387T>G | CA420930617 | FLG | c.2499A>C (p.Ala833=)
| dbSNP |
| 1 | g.152312387T= | CA2479951893 | FLG | c.2499A= (p.Ala833=)
| |
| 1 | g.152312388G>A | CA342089257 | FLG | c.2498C>T (p.Ala833Val)
| |
| 1 | g.152312388G>C | CA342089260 | FLG | c.2498C>G (p.Ala833Gly)
| |
| 1 | g.152312388G= | CA2479951894 | FLG | c.2498C= (p.Ala833=)
| |
| 1 | g.152312388G>T | CA342089263 | FLG | c.2498C>A (p.Ala833Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312389C>A | CA342089267 | FLG | c.2497G>T (p.Ala833Ser)
| gnomAD v4 |
| 1 | g.152312389C= | CA2479951895 | FLG | c.2497G= (p.Ala833=)
| |
| 1 | g.152312389C>G | CA342089269 | FLG | c.2497G>C (p.Ala833Pro)
| gnomAD v4 |
| 1 | g.152312389C>T | CA342089271 | FLG | c.2497G>A (p.Ala833Thr)
| dbSNP gnomAD v4 |
| 1 | g.152312390T>A | CA420930621 | FLG | c.2496A>T (p.Ser832=)
| |
| 1 | g.152312390T>C | CA420930622 | FLG | c.2496A>G (p.Ser832=)
| |
| 1 | g.152312390T>G | CA420930624 | FLG | c.2496A>C (p.Ser832=)
| |
| 1 | g.152312391G>A | CA342089276 | FLG | c.2495C>T (p.Ser832Leu)
| |
| 1 | g.152312391G>C | CA342089282 | FLG | c.2495C>G (p.Ser832Ter)
| |
| 1 | g.152312391G>T | CA342089279 | FLG | c.2495C>A (p.Ser832Ter)
| |
| 1 | g.152312392A= | CA2479951896 | FLG | c.2494T= (p.Ser832=)
| |
| 1 | g.152312392A>C | CA342089288 | FLG | c.2494T>G (p.Ser832Ala)
| |
| 1 | g.152312392A>G | CA342089290 | FLG | c.2494T>C (p.Ser832Pro)
| gnomAD v4 |
| 1 | g.152312392A>T | CA342089291 | FLG | c.2494T>A (p.Ser832Thr)
| |
| 1 | g.152312393G>A | CA420930625 | FLG | c.2493C>T (p.His831=)
| |
| 1 | g.152312393G>C | CA342089298 | FLG | c.2493C>G (p.His831Gln)
| gnomAD v4 |
| 1 | g.152312393G>T | CA342089301 | FLG | c.2493C>A (p.His831Gln)
| gnomAD v4 |
| 1 | g.152312393_152312416delinsGTGCCTGGAGTTGTCTCGTGCCTG | CA1147109305 | FLG | c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC (p.Gln824=)
| |
| 1 | g.152312400_152312416dup | CA1107144 | FLG | c.2477_2493dup (p.Ser832GlufsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312394T>A | CA342089305 | FLG | c.2492A>T (p.His831Leu)
| |
| 1 | g.152312394T>C | CA342089308 | FLG | c.2492A>G (p.His831Arg)
| |
| 1 | g.152312394T>G | CA342089311 | FLG | c.2492A>C (p.His831Pro)
| |
| 1 | g.152312395G>A | CA342089314 | FLG | c.2491C>T (p.His831Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312395G>C | CA342089316 | FLG | c.2491C>G (p.His831Asp)
| |
| 1 | g.152312395G= | CA2479951897 | FLG | c.2491C= (p.His831=)
| |
| 1 | g.152312395G>T | CA342089318 | FLG | c.2491C>A (p.His831Asn)
| |
| 1 | g.152312396C>A | CA342089326 | FLG | c.2490G>T (p.Arg830Ser)
| dbSNP gnomAD v2 |
| 1 | g.152312396C= | CA2479951898 | FLG | c.2490G= (p.Arg830=)
| |
| 1 | g.152312396C>G | CA342089324 | FLG | c.2490G>C (p.Arg830Ser)
| |
| 1 | g.152312396C>T | CA420930628 | FLG | c.2490G>A (p.Arg830=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312397C>A | CA342089328 | FLG | c.2489G>T (p.Arg830Met)
| |
| 1 | g.152312397C= | CA2479951899 | FLG | c.2489G= (p.Arg830=)
| |
| 1 | g.152312397C>G | CA342089330 | FLG | c.2489G>C (p.Arg830Thr)
| |
| 1 | g.152312397C>T | CA342089331 | FLG | c.2489G>A (p.Arg830Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312398T>A | CA342089333 | FLG | c.2488A>T (p.Arg830Trp)
| |
| 1 | g.152312398T>C | CA342089334 | FLG | c.2488A>G (p.Arg830Gly)
| |
| 1 | g.152312398T>G | CA420930630 | FLG | c.2488A>C (p.Arg830=)
| |
| 1 | g.152312399G>A | CA420930631 | FLG | c.2487C>T (p.Ser829=)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152312399G>C | CA420930632 | FLG | c.2487C>G (p.Ser829=)
| |
| 1 | g.152312399G= | CA2479951900 | FLG | c.2487C= (p.Ser829=)
| |
| 1 | g.152312399G>T | CA420930633 | FLG | c.2487C>A (p.Ser829=)
| |
| 1 | g.152312399_152312400delinsTT | CA645521847 | FLG | c.2486_2487delinsAA (p.Ser829Ter)
| COSMIC |
| 1 | g.152312400G>A | CA1107145 | FLG | c.2486C>T (p.Ser829Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312400G>C | CA342089335 | FLG | c.2486C>G (p.Ser829Cys)
| dbSNP |
| 1 | g.152312400G= | CA1141665482 | FLG | c.2486C= (p.Ser829=)
| |
| 1 | g.152312400G>T | CA342089337 | FLG | c.2486C>A (p.Ser829Tyr)
| |
| 1 | g.152312401A= | CA2479951901 | FLG | c.2485T= (p.Ser829=)
| |
| 1 | g.152312401A>C | CA342089341 | FLG | c.2485T>G (p.Ser829Ala)
| |
| 1 | g.152312401A>G | CA342089343 | FLG | c.2485T>C (p.Ser829Pro)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152312401A>T | CA342089347 | FLG | c.2485T>A (p.Ser829Thr)
| |
| 1 | g.152312401dup | CA526662262 | FLG | c.2485dup (p.Ser829PhefsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312402G>A | CA420930634 | FLG | c.2484C>T (p.Asn828=)
| dbSNP |
| 1 | g.152312402G>C | CA342089352 | FLG | c.2484C>G (p.Asn828Lys)
| |
| 1 | g.152312402G= | CA2479951902 | FLG | c.2484C= (p.Asn828=)
| |
| 1 | g.152312402G>T | CA1107146 | FLG | c.2484C>A (p.Asn828Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312403T>A | CA342089362 | FLG | c.2483A>T (p.Asn828Ile)
| |
| 1 | g.152312403T>C | CA1107147 | FLG | c.2483A>G (p.Asn828Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312403T>G | CA342089359 | FLG | c.2483A>C (p.Asn828Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312403T= | CA2479951903 | FLG | c.2483A= (p.Asn828=)
| |
| 1 | g.152312404T>A | CA342089374 | FLG | c.2482A>T (p.Asn828Tyr)
| |
| 1 | g.152312404T>C | CA342089368 | FLG | c.2482A>G (p.Asn828Asp)
| gnomAD v3 gnomAD v4 |
| 1 | g.152312404T>G | CA342089371 | FLG | c.2482A>C (p.Asn828His)
| |
| 1 | g.152312405G>A | CA1107149 | FLG | c.2481C>T (p.Asp827=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312405G>C | CA342089379 | FLG | c.2481C>G (p.Asp827Glu)
| |
| 1 | g.152312405G= | CA2479951904 | FLG | c.2481C= (p.Asp827=)
| |
| 1 | g.152312405G>T | CA1107148 | FLG | c.2481C>A (p.Asp827Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312406T>A | CA342089384 | FLG | c.2480A>T (p.Asp827Val)
| gnomAD v4 |
| 1 | g.152312406T>C | CA342089386 | FLG | c.2480A>G (p.Asp827Gly)
| |
| 1 | g.152312406T>G | CA342089389 | FLG | c.2480A>C (p.Asp827Ala)
| |
| 1 | g.152312407C>A | CA342089393 | FLG | c.2479G>T (p.Asp827Tyr)
| |
| 1 | g.152312407C>G | CA342089395 | FLG | c.2479G>C (p.Asp827His)
| |
| 1 | g.152312407C>T | CA342089398 | FLG | c.2479G>A (p.Asp827Asn)
| gnomAD v4 |
| 1 | g.152312408T>A | CA420930639 | FLG | c.2478A>T (p.Arg826=)
| |
| 1 | g.152312408T>C | CA420930641 | FLG | c.2478A>G (p.Arg826=)
| dbSNP |
| 1 | g.152312408T>G | CA420930640 | FLG | c.2478A>C (p.Arg826=)
| |
| 1 | g.152312409C>A | CA342089404 | FLG | c.2477G>T (p.Arg826Leu)
| gnomAD v4 |
| 1 | g.152312409C= | CA2479951905 | FLG | c.2477G= (p.Arg826=)
| |
| 1 | g.152312409C>G | CA342089408 | FLG | c.2477G>C (p.Arg826Pro)
| |
| 1 | g.152312409C>T | CA1107150 | FLG | c.2477G>A (p.Arg826Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312410G>A | CA1107151 | FLG | c.2476C>T (p.Arg826Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312410G>C | CA342089414 | FLG | c.2476C>G (p.Arg826Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312410G= | CA1141486086 | FLG | c.2476C= (p.Arg826=)
| |
| 1 | g.152312410G>T | CA420930644 | FLG | c.2476C>A (p.Arg826=)
| gnomAD v4 |
| 1 | g.152312410_152312411insA | CA916310999 | FLG | c.2475_2476insT (p.Arg826SerfsTer?)
| dbSNP |
| 1 | g.152312411T>A | CA420930645 | FLG | c.2475A>T (p.Ala825=)
| |
| 1 | g.152312411T>C | CA1107152 | FLG | c.2475A>G (p.Ala825=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312411T>G | CA420930646 | FLG | c.2475A>C (p.Ala825=)
| |
| 1 | g.152312411T= | CA2479951906 | FLG | c.2475A= (p.Ala825=)
| |
| 1 | g.152312412G>A | CA342089421 | FLG | c.2474C>T (p.Ala825Val)
| |
| 1 | g.152312412G>C | CA342089423 | FLG | c.2474C>G (p.Ala825Gly)
| |
| 1 | g.152312412G>T | CA342089425 | FLG | c.2474C>A (p.Ala825Glu)
| |
| 1 | g.152312413C>A | CA342089431 | FLG | c.2473G>T (p.Ala825Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312413C= | CA2479951907 | FLG | c.2473G= (p.Ala825=)
| |
| 1 | g.152312413C>G | CA342089434 | FLG | c.2473G>C (p.Ala825Pro)
| |
| 1 | g.152312413C>T | CA342089436 | FLG | c.2473G>A (p.Ala825Thr)
| dbSNP |
| 1 | g.152312414C>A | CA342089443 | FLG | c.2472G>T (p.Gln824His)
| |
| 1 | g.152312414C= | CA2479951908 | FLG | c.2472G= (p.Gln824=)
| |
| 1 | g.152312414C>G | CA342089444 | FLG | c.2472G>C (p.Gln824His)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312414C>T | CA420930648 | FLG | c.2472G>A (p.Gln824=)
| gnomAD v4 |
| 1 | g.152312415T>A | CA342089448 | FLG | c.2471A>T (p.Gln824Leu)
| |
| 1 | g.152312415T>C | CA342089451 | FLG | c.2471A>G (p.Gln824Arg)
| gnomAD v4 |
| 1 | g.152312415T>G | CA342089453 | FLG | c.2471A>C (p.Gln824Pro)
| |
| 1 | g.152312416G>A | CA342089461 | FLG | c.2470C>T (p.Gln824Ter)
| |
| 1 | g.152312416G>C | CA342089459 | FLG | c.2470C>G (p.Gln824Glu)
| |
| 1 | g.152312416G>T | CA342089457 | FLG | c.2470C>A (p.Gln824Lys)
| |
| 1 | g.152312417C>A | CA1107153 | FLG | c.2469G>T (p.Glu823Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312417C= | CA2479951909 | FLG | c.2469G= (p.Glu823=)
| |
| 1 | g.152312417C>G | CA342089464 | FLG | c.2469G>C (p.Glu823Asp)
| |
| 1 | g.152312417C>T | CA420930651 | FLG | c.2469G>A (p.Glu823=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312418T>A | CA342089469 | FLG | c.2468A>T (p.Glu823Val)
| |
| 1 | g.152312418T>C | CA342089470 | FLG | c.2468A>G (p.Glu823Gly)
| |
| 1 | g.152312418T>G | CA342089474 | FLG | c.2468A>C (p.Glu823Ala)
| |
| 1 | g.152312419C>A | CA342089479 | FLG | c.2467G>T (p.Glu823Ter)
| |
| 1 | g.152312419C= | CA2479951910 | FLG | c.2467G= (p.Glu823=)
| |
| 1 | g.152312419C>G | CA342089483 | FLG | c.2467G>C (p.Glu823Gln)
| gnomAD v4 |
| 1 | g.152312419C>T | CA1107154 | FLG | c.2467G>A (p.Glu823Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312420A= | CA2479951911 | FLG | c.2466T= (p.His822=)
| |
| 1 | g.152312420A>C | CA342089490 | FLG | c.2466T>G (p.His822Gln)
| |
| 1 | g.152312420A>G | CA1107155 | FLG | c.2466T>C (p.His822=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312420A>T | CA342089499 | FLG | c.2466T>A (p.His822Gln)
| |
| 1 | g.152312421T>A | CA342089503 | FLG | c.2465A>T (p.His822Leu)
| gnomAD v4 |
| 1 | g.152312421T>C | CA342089505 | FLG | c.2465A>G (p.His822Arg)
| dbSNP |
| 1 | g.152312421T>G | CA342089509 | FLG | c.2465A>C (p.His822Pro)
| |
| 1 | g.152312421T= | CA2479951912 | FLG | c.2465A= (p.His822=)
| |
| 1 | g.152312422G>A | CA342089517 | FLG | c.2464C>T (p.His822Tyr)
| |
| 1 | g.152312422G>C | CA342089512 | FLG | c.2464C>G (p.His822Asp)
| |
| 1 | g.152312422G>T | CA342089515 | FLG | c.2464C>A (p.His822Asn)
| COSMIC |
| 1 | g.152312423G>A | CA420930653 | FLG | c.2463C>T (p.His821=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312423G>C | CA342089521 | FLG | c.2463C>G (p.His821Gln)
| |
| 1 | g.152312423G= | CA1145445775 | FLG | c.2463C= (p.His821=)
| |
| 1 | g.152312423G>T | CA1107156 | FLG | c.2463C>A (p.His821Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312424T>A | CA342089526 | FLG | c.2462A>T (p.His821Leu)
| |
| 1 | g.152312424T>C | CA1107157 | FLG | c.2462A>G (p.His821Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312424T>G | CA342089531 | FLG | c.2462A>C (p.His821Pro)
| |
| 1 | g.152312424T= | CA2479951913 | FLG | c.2462A= (p.His821=)
| |
| 1 | g.152312425G>A | CA342089536 | FLG | c.2461C>T (p.His821Tyr)
| gnomAD v4 |
| 1 | g.152312425G>C | CA342089541 | FLG | c.2461C>G (p.His821Asp)
| |
| 1 | g.152312425G>T | CA342089543 | FLG | c.2461C>A (p.His821Asn)
| |
| 1 | g.152312426G>A | CA1107159 | FLG | c.2460C>T (p.Ser820=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312426G>C | CA1107158 | FLG | c.2460C>G (p.Ser820=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312426G= | CA1141863073 | FLG | c.2460C= (p.Ser820=)
| |
| 1 | g.152312426G>T | CA420930659 | FLG | c.2460C>A (p.Ser820=)
| gnomAD v4 |
| 1 | g.152312427G>A | CA342089549 | FLG | c.2459C>T (p.Ser820Phe)
| COSMIC |
| 1 | g.152312427G>C | CA342089552 | FLG | c.2459C>G (p.Ser820Cys)
| dbSNP gnomAD v4 |
| 1 | g.152312427G= | CA1141295939 | FLG | c.2459C= (p.Ser820=)
| |
| 1 | g.152312427G>T | CA1107160 | FLG | c.2459C>A (p.Ser820Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312428A= | CA2479951914 | FLG | c.2458T= (p.Ser820=)
| |
| 1 | g.152312428A>C | CA342089558 | FLG | c.2458T>G (p.Ser820Ala)
| |
| 1 | g.152312428A>G | CA342089560 | FLG | c.2458T>C (p.Ser820Pro)
| |
| 1 | g.152312428A>T | CA342089556 | FLG | c.2458T>A (p.Ser820Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312429T>A | CA1107161 | FLG | c.2457A>T (p.Gly819=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312429T>C | CA420930663 | FLG | c.2457A>G (p.Gly819=)
| |
| 1 | g.152312429T>G | CA420930661 | FLG | c.2457A>C (p.Gly819=)
| |
| 1 | g.152312429T= | CA1148238590 | FLG | c.2457A= (p.Gly819=)
| |
| 1 | g.152312430C>A | CA342089570 | FLG | c.2456G>T (p.Gly819Val)
| |
| 1 | g.152312430C= | CA2479951915 | FLG | c.2456G= (p.Gly819=)
| |
| 1 | g.152312430C>G | CA342089567 | FLG | c.2456G>C (p.Gly819Ala)
| dbSNP gnomAD v2 |
| 1 | g.152312430C>T | CA1107162 | FLG | c.2456G>A (p.Gly819Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312431C>A | CA342089574 | FLG | c.2455G>T (p.Gly819Ter)
| |
| 1 | g.152312431C>G | CA342089576 | FLG | c.2455G>C (p.Gly819Arg)
| |
| 1 | g.152312431C>T | CA342089579 | FLG | c.2455G>A (p.Gly819Arg)
| gnomAD v4 |
| 1 | g.152312432T>A | CA342089581 | FLG | c.2454A>T (p.Gln818His)
| |
| 1 | g.152312432T>C | CA420930665 | FLG | c.2454A>G (p.Gln818=)
| gnomAD v4 |
| 1 | g.152312432T>G | CA342089583 | FLG | c.2454A>C (p.Gln818His)
| |
| 1 | g.152312433T>A | CA342089588 | FLG | c.2453A>T (p.Gln818Leu)
| |
| 1 | g.152312433T>C | CA342089590 | FLG | c.2453A>G (p.Gln818Arg)
| |
| 1 | g.152312433T>G | CA342089592 | FLG | c.2453A>C (p.Gln818Pro)
| |
| 1 | g.152312434G>A | CA342089594 | FLG | c.2452C>T (p.Gln818Ter)
| |
| 1 | g.152312434G>C | CA1107163 | FLG | c.2452C>G (p.Gln818Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312434G= | CA1142197539 | FLG | c.2452C= (p.Gln818=)
| |
| 1 | g.152312434G>T | CA342089599 | FLG | c.2452C>A (p.Gln818Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312435T>A | CA342089604 | FLG | c.2451A>T (p.Arg817Ser)
| |
| 1 | g.152312435T>C | CA420930666 | FLG | c.2451A>G (p.Arg817=)
| |
| 1 | g.152312435T>G | CA342089601 | FLG | c.2451A>C (p.Arg817Ser)
| |
| 1 | g.152312436C>A | CA342089608 | FLG | c.2450G>T (p.Arg817Ile)
| |
| 1 | g.152312436C= | CA2479951916 | FLG | c.2450G= (p.Arg817=)
| |
| 1 | g.152312436C>G | CA342089610 | FLG | c.2450G>C (p.Arg817Thr)
| |
| 1 | g.152312436C>T | CA342089614 | FLG | c.2450G>A (p.Arg817Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312437T>A | CA342089618 | FLG | c.2449A>T (p.Arg817Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312437T>C | CA342089621 | FLG | c.2449A>G (p.Arg817Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312437T>G | CA420930667 | FLG | c.2449A>C (p.Arg817=)
| |
| 1 | g.152312437T= | CA2479951917 | FLG | c.2449A= (p.Arg817=)
| |
| 1 | g.152312437_152312438insC | CA2647993757 | FLG | c.2448_2449insG (p.Arg817GlufsTer7)
| gnomAD v4 |
| 1 | g.152312438T>A | CA420930668 | FLG | c.2448A>T (p.Val816=)
| |
| 1 | g.152312438T>C | CA420930669 | FLG | c.2448A>G (p.Val816=)
| gnomAD v4 |
| 1 | g.152312438T>G | CA420930670 | FLG | c.2448A>C (p.Val816=)
| |
| 1 | g.152312439A= | CA1142355424 | FLG | c.2447T= (p.Val816=)
| |
| 1 | g.152312439A>C | CA1107164 | FLG | c.2447T>G (p.Val816Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312439A>G | CA342089624 | FLG | c.2447T>C (p.Val816Ala)
| |
| 1 | g.152312439A>T | CA342089625 | FLG | c.2447T>A (p.Val816Glu)
| |
