| 1 | g.152312491_152312507delinsTGCTCACCTGGTAGAGG | CA2479951938 | FLG | c.2379_2395delinsCCTCTACCAGGTGAGCA (p.Phe793=)
| |
| 1 | g.152312492_152312507delinsCTGAGGA | CA658821143 | FLG | c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln)
| ClinVar dbSNP |
| 1 | g.152312505A>C | CA342090052 | FLG | c.2381T>G (p.Leu794Arg)
| |
| 1 | g.152312505A>G | CA342090054 | FLG | c.2381T>C (p.Leu794Pro)
| |
| 1 | g.152312505A>T | CA342090057 | FLG | c.2381T>A (p.Leu794His)
| |
| 1 | g.152312506G>A | CA342090066 | FLG | c.2380C>T (p.Leu794Phe)
| gnomAD v4 |
| 1 | g.152312506G>C | CA342090064 | FLG | c.2380C>G (p.Leu794Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312506G= | CA2479951949 | FLG | c.2380C= (p.Leu794=)
| |
| 1 | g.152312506G>T | CA342090062 | FLG | c.2380C>A (p.Leu794Ile)
| gnomAD v4 COSMIC |
| 1 | g.152312506_152312507insA | CA30562068 | FLG | c.2379_2380insT (p.Leu794SerfsTer8)
| |
| 1 | g.152312507G>A | CA1107198 | FLG | c.2379C>T (p.Phe793=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312507G>C | CA342090093 | FLG | c.2379C>G (p.Phe793Leu)
| |
| 1 | g.152312507G= | CA2479951950 | FLG | c.2379C= (p.Phe793=)
| |
| 1 | g.152312507G>T | CA342090082 | FLG | c.2379C>A (p.Phe793Leu)
| |
| 1 | g.152312508A= | CA1149155565 | FLG | c.2378T= (p.Phe793=)
| |
| 1 | g.152312508A>C | CA342090107 | FLG | c.2378T>G (p.Phe793Cys)
| |
| 1 | g.152312508A>G | CA1107199 | FLG | c.2378T>C (p.Phe793Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312508A>T | CA342090104 | FLG | c.2378T>A (p.Phe793Tyr)
| |
| 1 | g.152312510dup | CA1107197 | FLG | c.2378dup (p.Leu794ProfsTer8)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312509A= | CA2479951951 | FLG | c.2377T= (p.Phe793=)
| |
| 1 | g.152312509A>C | CA342090108 | FLG | c.2377T>G (p.Phe793Val)
| |
| 1 | g.152312509A>G | CA1107200 | FLG | c.2377T>C (p.Phe793Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312509A>T | CA342090111 | FLG | c.2377T>A (p.Phe793Ile)
| |
| 1 | g.152312510A= | CA2479951952 | FLG | c.2376T= (p.Ser792=)
| |
| 1 | g.152312510A>C | CA1107201 | FLG | c.2376T>G (p.Ser792=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312510A>G | CA420930753 | FLG | c.2376T>C (p.Ser792=)
| gnomAD v4 |
| 1 | g.152312510A>T | CA420930755 | FLG | c.2376T>A (p.Ser792=)
| |
| 1 | g.152312511G>A | CA30562085 | FLG | c.2375C>T (p.Ser792Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312511G>C | CA342090123 | FLG | c.2375C>G (p.Ser792Cys)
| gnomAD v4 |
| 1 | g.152312511G= | CA1141716143 | FLG | c.2375C= (p.Ser792=)
| |
| 1 | g.152312511G>T | CA342090126 | FLG | c.2375C>A (p.Ser792Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312512A= | CA2479951953 | FLG | c.2374T= (p.Ser792=)
| |
| 1 | g.152312512A>C | CA342090129 | FLG | c.2374T>G (p.Ser792Ala)
| |
| 1 | g.152312512A>G | CA342090131 | FLG | c.2374T>C (p.Ser792Pro)
| |
| 1 | g.152312512A>T | CA342090137 | FLG | c.2374T>A (p.Ser792Thr)
| dbSNP |
| 1 | g.152312513C>A | CA1107202 | FLG | c.2373G>T (p.Gly791=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312513C= | CA2479951954 | FLG | c.2373G= (p.Gly791=)
| |
| 1 | g.152312513C>G | CA420930757 | FLG | c.2373G>C (p.Gly791=)
| |
| 1 | g.152312513C>T | CA420930758 | FLG | c.2373G>A (p.Gly791=)
| dbSNP gnomAD v4 |
| 1 | g.152312515del | CA2647993762 | FLG | c.2373del (p.Ser792LeufsTer6)
| gnomAD v4 |
| 1 | g.152312514C>A | CA342090148 | FLG | c.2372G>T (p.Gly791Val)
| |
| 1 | g.152312514C>G | CA342090139 | FLG | c.2372G>C (p.Gly791Ala)
| |
| 1 | g.152312514C>T | CA342090147 | FLG | c.2372G>A (p.Gly791Glu)
| |
| 1 | g.152312515C>A | CA342090149 | FLG | c.2371G>T (p.Gly791Trp)
| |
| 1 | g.152312515C= | CA2479951955 | FLG | c.2371G= (p.Gly791=)
| |
| 1 | g.152312515C>G | CA342090152 | FLG | c.2371G>C (p.Gly791Arg)
| |
| 1 | g.152312515C>T | CA342090154 | FLG | c.2371G>A (p.Gly791Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312516T>A | CA420930761 | FLG | c.2370A>T (p.Ser790=)
| |
| 1 | g.152312516T>C | CA420930763 | FLG | c.2370A>G (p.Ser790=)
| |
| 1 | g.152312516T>G | CA420930764 | FLG | c.2370A>C (p.Ser790=)
| |
| 1 | g.152312517G>A | CA342090161 | FLG | c.2369C>T (p.Ser790Leu)
| gnomAD v4 |
| 1 | g.152312517G>C | CA342090162 | FLG | c.2369C>G (p.Ser790Ter)
| |
| 1 | g.152312517G>T | CA342090163 | FLG | c.2369C>A (p.Ser790Ter)
| COSMIC |
| 1 | g.152312517_152312518del | CA2647993763 | FLG | c.2368_2369del (p.Ser790ArgfsTer11)
| gnomAD v4 |
| 1 | g.152312518A= | CA2479951956 | FLG | c.2368T= (p.Ser790=)
| |
| 1 | g.152312518A>C | CA342090164 | FLG | c.2368T>G (p.Ser790Ala)
| gnomAD v4 |
| 1 | g.152312518A>G | CA342090165 | FLG | c.2368T>C (p.Ser790Pro)
| |
| 1 | g.152312518A>T | CA342090167 | FLG | c.2368T>A (p.Ser790Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312519A= | CA2479951957 | FLG | c.2367T= (p.Arg789=)
| |
| 1 | g.152312519A>C | CA420930765 | FLG | c.2367T>G (p.Arg789=)
| |
| 1 | g.152312519A>G | CA1107203 | FLG | c.2367T>C (p.Arg789=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312519A>T | CA420930768 | FLG | c.2367T>A (p.Arg789=)
| |
| 1 | g.152312520C>A | CA1107205 | FLG | c.2366G>T (p.Arg789Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312520C= | CA1142171033 | FLG | c.2366G= (p.Arg789=)
| |
| 1 | g.152312520C>G | CA342090173 | FLG | c.2366G>C (p.Arg789Pro)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312520C>T | CA1107204 | FLG | c.2366G>A (p.Arg789His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312520_152312521insCAG | CA2647993764 | FLG | c.2365_2366insCTG (p.Arg789delinsProGly)
| gnomAD v4 |
| 1 | g.152312521G>A | CA1107206 | FLG | c.2365C>T (p.Arg789Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312521G>C | CA342090183 | FLG | c.2365C>G (p.Arg789Gly)
| gnomAD v4 |
| 1 | g.152312521G= | CA2479951958 | FLG | c.2365C= (p.Arg789=)
| |
| 1 | g.152312521G>T | CA342090193 | FLG | c.2365C>A (p.Arg789Ser)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312522T>A | CA420930770 | FLG | c.2364A>T (p.Arg788=)
| dbSNP |
| 1 | g.152312522T>C | CA1107207 | FLG | c.2364A>G (p.Arg788=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312522T>G | CA420930773 | FLG | c.2364A>C (p.Arg788=)
| |
| 1 | g.152312522T= | CA2479951959 | FLG | c.2364A= (p.Arg788=)
| |
| 1 | g.152312523C>A | CA342090209 | FLG | c.2363G>T (p.Arg788Leu)
| gnomAD v4 |
| 1 | g.152312523C= | CA1141869998 | FLG | c.2363G= (p.Arg788=)
| |
| 1 | g.152312523C>G | CA1107209 | FLG | c.2363G>C (p.Arg788Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312523C>T | CA1107208 | FLG | c.2363G>A (p.Arg788Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312524G>A | CA1107211 | FLG | c.2362C>T (p.Arg788Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312524G>C | CA1107210 | FLG | c.2362C>G (p.Arg788Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312524G= | CA1142662875 | FLG | c.2362C= (p.Arg788=)
| |
| 1 | g.152312524G>T | CA420930774 | FLG | c.2362C>A (p.Arg788=)
| gnomAD v4 |
| 1 | g.152312525A= | CA2479951960 | FLG | c.2361T= (p.Ser787=)
| |
| 1 | g.152312525A>C | CA420930776 | FLG | c.2361T>G (p.Ser787=)
| COSMIC |
| 1 | g.152312525A>G | CA420930778 | FLG | c.2361T>C (p.Ser787=)
| dbSNP |
| 1 | g.152312525A>T | CA420930780 | FLG | c.2361T>A (p.Ser787=)
| |
| 1 | g.152312526G>A | CA1107212 | FLG | c.2360C>T (p.Ser787Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312526G>C | CA342090227 | FLG | c.2360C>G (p.Ser787Cys)
| dbSNP gnomAD v4 |
| 1 | g.152312526G= | CA1141023007 | FLG | c.2360C= (p.Ser787=)
| |
| 1 | g.152312526G>T | CA342090229 | FLG | c.2360C>A (p.Ser787Tyr)
| |
| 1 | g.152312527A>C | CA342090237 | FLG | c.2359T>G (p.Ser787Ala)
| |
| 1 | g.152312527A>G | CA342090234 | FLG | c.2359T>C (p.Ser787Pro)
| |
| 1 | g.152312527A>T | CA342090232 | FLG | c.2359T>A (p.Ser787Thr)
| |
| 1 | g.152312528C>A | CA342090246 | FLG | c.2358G>T (p.Arg786Ser)
| |
| 1 | g.152312528C= | CA2479951961 | FLG | c.2358G= (p.Arg786=)
| |
| 1 | g.152312528C>G | CA1107213 | FLG | c.2358G>C (p.Arg786Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312528C>T | CA420930781 | FLG | c.2358G>A (p.Arg786=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312529C>A | CA342090251 | FLG | c.2357G>T (p.Arg786Met)
| gnomAD v4 COSMIC |
| 1 | g.152312529C>G | CA342090253 | FLG | c.2357G>C (p.Arg786Thr)
| gnomAD v4 |
| 1 | g.152312529C>T | CA342090257 | FLG | c.2357G>A (p.Arg786Lys)
| |
| 1 | g.152312530T>A | CA342090261 | FLG | c.2356A>T (p.Arg786Trp)
| gnomAD v4 |
| 1 | g.152312530T>C | CA342090264 | FLG | c.2356A>G (p.Arg786Gly)
| |
| 1 | g.152312530T>G | CA420930782 | FLG | c.2356A>C (p.Arg786=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312530T= | CA2479951962 | FLG | c.2356A= (p.Arg786=)
| |
| 1 | g.152312531T>A | CA342090273 | FLG | c.2355A>T (p.Glu785Asp)
| |
| 1 | g.152312531T>C | CA420930785 | FLG | c.2355A>G (p.Glu785=)
| |
| 1 | g.152312531T>G | CA342090275 | FLG | c.2355A>C (p.Glu785Asp)
| |
| 1 | g.152312531_152312533delinsTTC | CA2479951963 | FLG | c.2353_2355delinsGAA (p.Glu785=)
| |
| 1 | g.152312532T>A | CA342090277 | FLG | c.2354A>T (p.Glu785Val)
| |
| 1 | g.152312532T>C | CA1107215 | FLG | c.2354A>G (p.Glu785Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312532T>G | CA342090282 | FLG | c.2354A>C (p.Glu785Ala)
| |
| 1 | g.152312532T= | CA2479951965 | FLG | c.2354A= (p.Glu785=)
| |
| 1 | g.152312532_152312533del | CA526662266 | FLG | c.2353_2354del (p.Glu785LysfsTer16)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312532_152312533delinsTC | CA2479951964 | FLG | c.2353_2354delinsGA (p.Glu785=)
| |
| 1 | g.152312533C>A | CA342090304 | FLG | c.2353G>T (p.Glu785Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312533C= | CA2479951966 | FLG | c.2353G= (p.Glu785=)
| |
| 1 | g.152312533C>G | CA342090288 | FLG | c.2353G>C (p.Glu785Gln)
| |
| 1 | g.152312533C>T | CA342090306 | FLG | c.2353G>A (p.Glu785Lys)
| |
| 1 | g.152312536del | CA1107214 | FLG | c.2353del (p.Glu785LysfsTer13)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312534C>A | CA420930788 | FLG | c.2352G>T (p.Gly784=)
| |
| 1 | g.152312534C= | CA2479951967 | FLG | c.2352G= (p.Gly784=)
| |
| 1 | g.152312534C>G | CA420930789 | FLG | c.2352G>C (p.Gly784=)
| |
| 1 | g.152312534C>T | CA420930790 | FLG | c.2352G>A (p.Gly784=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312535C>A | CA342090324 | FLG | c.2351G>T (p.Gly784Val)
| dbSNP gnomAD v2 |
| 1 | g.152312535C= | CA2479951968 | FLG | c.2351G= (p.Gly784=)
| |
| 1 | g.152312535C>G | CA342090310 | FLG | c.2351G>C (p.Gly784Ala)
| |
| 1 | g.152312535C>T | CA342090315 | FLG | c.2351G>A (p.Gly784Glu)
| gnomAD v4 |
| 1 | g.152312535_152312536insTG | CA526662267 | FLG | c.2350_2351insCA (p.Gly784AlafsTer15)
| gnomAD v2 gnomAD v4 |
| 1 | g.152312536C>A | CA342090325 | FLG | c.2350G>T (p.Gly784Trp)
| |
| 1 | g.152312536C>G | CA342090326 | FLG | c.2350G>C (p.Gly784Arg)
| gnomAD v4 |
| 1 | g.152312536C>T | CA342090327 | FLG | c.2350G>A (p.Gly784Arg)
| gnomAD v4 |
| 1 | g.152312537del | CA2647993765 | FLG | c.2349del (p.Glu785LysfsTer13)
| gnomAD v4 |
| 1 | g.152312537T>A | CA420930794 | FLG | c.2349A>T (p.Ser783=)
| |
| 1 | g.152312537T>C | CA420930795 | FLG | c.2349A>G (p.Ser783=)
| |
| 1 | g.152312537T>G | CA420930796 | FLG | c.2349A>C (p.Ser783=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312537T= | CA2479951969 | FLG | c.2349A= (p.Ser783=)
| |
| 1 | g.152312538G>A | CA342090329 | FLG | c.2348C>T (p.Ser783Leu)
| |
| 1 | g.152312538G>C | CA342090332 | FLG | c.2348C>G (p.Ser783Ter)
| gnomAD v4 |
| 1 | g.152312538G= | CA2479951970 | FLG | c.2348C= (p.Ser783=)
| |
| 1 | g.152312538G>T | CA342090335 | FLG | c.2348C>A (p.Ser783Ter)
| dbSNP |
| 1 | g.152312539A>C | CA342090341 | FLG | c.2347T>G (p.Ser783Ala)
| |
| 1 | g.152312539A>G | CA342090346 | FLG | c.2347T>C (p.Ser783Pro)
| |
| 1 | g.152312539A>T | CA342090349 | FLG | c.2347T>A (p.Ser783Thr)
| |
| 1 | g.152312540C>A | CA420930798 | FLG | c.2346G>T (p.Arg782=)
| |
| 1 | g.152312540C= | CA1141734048 | FLG | c.2346G= (p.Arg782=)
| |
| 1 | g.152312540C>G | CA420930799 | FLG | c.2346G>C (p.Arg782=)
| dbSNP |
| 1 | g.152312540C>T | CA1107216 | FLG | c.2346G>A (p.Arg782=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312541C>A | CA342090365 | FLG | c.2345G>T (p.Arg782Leu)
| |
| 1 | g.152312541C= | CA1145605783 | FLG | c.2345G= (p.Arg782=)
| |
| 1 | g.152312541C>G | CA342090355 | FLG | c.2345G>C (p.Arg782Pro)
| |
| 1 | g.152312541C>T | CA1107217 | FLG | c.2345G>A (p.Arg782Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312542G>A | CA1107218 | FLG | c.2344C>T (p.Arg782Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312542G>C | CA342090372 | FLG | c.2344C>G (p.Arg782Gly)
| dbSNP COSMIC |
| 1 | g.152312542G= | CA1146641239 | FLG | c.2344C= (p.Arg782=)
| |
| 1 | g.152312542G>T | CA1107219 | FLG | c.2344C>A (p.Arg782=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312543G>A | CA420930803 | FLG | c.2343C>T (p.Asp781=)
| gnomAD v4 |
| 1 | g.152312543G>C | CA342090377 | FLG | c.2343C>G (p.Asp781Glu)
| |
| 1 | g.152312543G= | CA2479951971 | FLG | c.2343C= (p.Asp781=)
| |
| 1 | g.152312543G>T | CA342090381 | FLG | c.2343C>A (p.Asp781Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312544T>A | CA342090382 | FLG | c.2342A>T (p.Asp781Val)
| |
| 1 | g.152312544T>C | CA1107220 | FLG | c.2342A>G (p.Asp781Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312544T>G | CA342090391 | FLG | c.2342A>C (p.Asp781Ala)
| gnomAD v4 |
| 1 | g.152312544T= | CA1141594287 | FLG | c.2342A= (p.Asp781=)
| |
| 1 | g.152312545C>A | CA342090398 | FLG | c.2341G>T (p.Asp781Tyr)
| |
| 1 | g.152312545C= | CA1142259473 | FLG | c.2341G= (p.Asp781=)
| |
| 1 | g.152312545C>G | CA1107221 | FLG | c.2341G>C (p.Asp781His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312545C>T | CA342090401 | FLG | c.2341G>A (p.Asp781Asn)
| gnomAD v4 |
| 1 | g.152312546A= | CA2479951972 | FLG | c.2340T= (p.Arg780=)
| |
| 1 | g.152312546A>C | CA420930807 | FLG | c.2340T>G (p.Arg780=)
| |
| 1 | g.152312546A>G | CA420930808 | FLG | c.2340T>C (p.Arg780=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312546A>T | CA420930809 | FLG | c.2340T>A (p.Arg780=)
| dbSNP gnomAD v2 |
| 1 | g.152312546_152312551delinsACGTGC | CA2479951973 | FLG | c.2335_2340delinsGCACGT (p.Ala779=)
| |
| 1 | g.152312547C>A | CA342090405 | FLG | c.2339G>T (p.Arg780Leu)
| |
| 1 | g.152312547C= | CA1141209932 | FLG | c.2339G= (p.Arg780=)
| |
| 1 | g.152312547C>G | CA342090406 | FLG | c.2339G>C (p.Arg780Pro)
| gnomAD v4 |
| 1 | g.152312547C>T | CA1107222 | FLG | c.2339G>A (p.Arg780His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312547_152312551del | CA2479951974 | FLG | c.2335_2339del (p.Ala779Ter)
| dbSNP |
| 1 | g.152312548G>A | CA1107223 | FLG | c.2338C>T (p.Arg780Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312548G>C | CA342090410 | FLG | c.2338C>G (p.Arg780Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312548G= | CA2479951975 | FLG | c.2338C= (p.Arg780=)
| |
| 1 | g.152312548G>T | CA1107224 | FLG | c.2338C>A (p.Arg780Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312549T>A | CA420930813 | FLG | c.2337A>T (p.Ala779=)
| |
| 1 | g.152312549T>C | CA420930814 | FLG | c.2337A>G (p.Ala779=)
| |
| 1 | g.152312549T>G | CA420930815 | FLG | c.2337A>C (p.Ala779=)
| |
| 1 | g.152312550G>A | CA342090412 | FLG | c.2336C>T (p.Ala779Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312550G>C | CA342090413 | FLG | c.2336C>G (p.Ala779Gly)
| |
| 1 | g.152312550G= | CA2479951976 | FLG | c.2336C= (p.Ala779=)
| |
| 1 | g.152312550G>T | CA342090414 | FLG | c.2336C>A (p.Ala779Glu)
| |
| 1 | g.152312551C>A | CA1107226 | FLG | c.2335G>T (p.Ala779Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312551C= | CA2479951977 | FLG | c.2335G= (p.Ala779=)
| |
| 1 | g.152312551C>G | CA342090418 | FLG | c.2335G>C (p.Ala779Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312551C>T | CA1107225 | FLG | c.2335G>A (p.Ala779Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312552G>A | CA1107227 | FLG | c.2334C>T (p.Ser778=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312552G>C | CA1107228 | FLG | c.2334C>G (p.Ser778=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312552G= | CA2479951978 | FLG | c.2334C= (p.Ser778=)
| |
| 1 | g.152312552G>T | CA420930817 | FLG | c.2334C>A (p.Ser778=)
| |
| 1 | g.152312553G>A | CA342090428 | FLG | c.2333C>T (p.Ser778Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312553G>C | CA342090429 | FLG | c.2333C>G (p.Ser778Cys)
| |
| 1 | g.152312553G= | CA2479951979 | FLG | c.2333C= (p.Ser778=)
| |
| 1 | g.152312553G>T | CA342090433 | FLG | c.2333C>A (p.Ser778Tyr)
| |
| 1 | g.152312554del | CA2647993784 | FLG | c.2332del (p.Ser778ProfsTer20)
| gnomAD v4 |
| 1 | g.152312554A= | CA2479951980 | FLG | c.2332T= (p.Ser778=)
| |
| 1 | g.152312554A>C | CA342090438 | FLG | c.2332T>G (p.Ser778Ala)
| |
| 1 | g.152312554A>G | CA342090452 | FLG | c.2332T>C (p.Ser778Pro)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.152312554A>T | CA342090440 | FLG | c.2332T>A (p.Ser778Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312555C>A | CA1107230 | FLG | c.2331G>T (p.Glu777Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312555C= | CA1148286643 | FLG | c.2331G= (p.Glu777=)
| |
| 1 | g.152312555C>G | CA342090456 | FLG | c.2331G>C (p.Glu777Asp)
| |
| 1 | g.152312555C>T | CA1107229 | FLG | c.2331G>A (p.Glu777=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312556T>A | CA342090460 | FLG | c.2330A>T (p.Glu777Val)
| dbSNP |
| 1 | g.152312556T>C | CA1107231 | FLG | c.2330A>G (p.Glu777Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312556T>G | CA342090467 | FLG | c.2330A>C (p.Glu777Ala)
| |
| 1 | g.152312556T= | CA1141900660 | FLG | c.2330A= (p.Glu777=)
| |
| 1 | g.152312557C>A | CA342090471 | FLG | c.2329G>T (p.Glu777Ter)
| |
| 1 | g.152312557C>G | CA342090477 | FLG | c.2329G>C (p.Glu777Gln)
| gnomAD v4 |
| 1 | g.152312557C>T | CA342090480 | FLG | c.2329G>A (p.Glu777Lys)
| |
| 1 | g.152312558T>A | CA342090482 | FLG | c.2328A>T (p.Gln776His)
| |
| 1 | g.152312558T>C | CA1107232 | FLG | c.2328A>G (p.Gln776=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312558T>G | CA342090487 | FLG | c.2328A>C (p.Gln776His)
| |
| 1 | g.152312558T= | CA1144096615 | FLG | c.2328A= (p.Gln776=)
| |
| 1 | g.152312558_152312559del | CA420930819 | FLG | c.2327_2328del (p.Gln776ArgfsTer5)
| gnomAD v4 |
| 1 | g.152312559T>A | CA342090504 | FLG | c.2327A>T (p.Gln776Leu)
| |
| 1 | g.152312559T>C | CA342090496 | FLG | c.2327A>G (p.Gln776Arg)
| |
| 1 | g.152312559T>G | CA342090494 | FLG | c.2327A>C (p.Gln776Pro)
| |
| 1 | g.152312560G>A | CA342090507 | FLG | c.2326C>T (p.Gln776Ter)
| |
| 1 | g.152312560G>C | CA1107233 | FLG | c.2326C>G (p.Gln776Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312560G= | CA2479951981 | FLG | c.2326C= (p.Gln776=)
| |
| 1 | g.152312560G>T | CA342090508 | FLG | c.2326C>A (p.Gln776Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312561G>A | CA420930820 | FLG | c.2325C>T (p.His775=)
| |
| 1 | g.152312561G>C | CA342090512 | FLG | c.2325C>G (p.His775Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312561G= | CA2479951982 | FLG | c.2325C= (p.His775=)
| |
| 1 | g.152312561G>T | CA342090514 | FLG | c.2325C>A (p.His775Gln)
| |
| 1 | g.152312562T>A | CA342090517 | FLG | c.2324A>T (p.His775Leu)
| dbSNP |
| 1 | g.152312562T>C | CA30562308 | FLG | c.2324A>G (p.His775Arg)
| dbSNP |
| 1 | g.152312562T>G | CA342090520 | FLG | c.2324A>C (p.His775Pro)
| |
| 1 | g.152312562T= | CA1143498367 | FLG | c.2324A= (p.His775=)
| |
| 1 | g.152312563G>A | CA342090523 | FLG | c.2323C>T (p.His775Tyr)
| |
| 1 | g.152312563G>C | CA342090524 | FLG | c.2323C>G (p.His775Asp)
| dbSNP |
| 1 | g.152312563G= | CA2479951983 | FLG | c.2323C= (p.His775=)
| |
| 1 | g.152312563G>T | CA342090529 | FLG | c.2323C>A (p.His775Asn)
| COSMIC |
| 1 | g.152312564G>A | CA420930823 | FLG | c.2322C>T (p.Ser774=)
| gnomAD v4 |
| 1 | g.152312564G>C | CA342090533 | FLG | c.2322C>G (p.Ser774Arg)
| |
| 1 | g.152312564G= | CA2479951984 | FLG | c.2322C= (p.Ser774=)
| |
| 1 | g.152312564G>T | CA1107234 | FLG | c.2322C>A (p.Ser774Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312565C>A | CA342090535 | FLG | c.2321G>T (p.Ser774Ile)
| |
| 1 | g.152312565C= | CA2479951985 | FLG | c.2321G= (p.Ser774=)
| |
| 1 | g.152312565C>G | CA342090536 | FLG | c.2321G>C (p.Ser774Thr)
| gnomAD v4 |
| 1 | g.152312565C>T | CA342090537 | FLG | c.2321G>A (p.Ser774Asn)
| dbSNP gnomAD v2 |
| 1 | g.152312566T>A | CA342090541 | FLG | c.2320A>T (p.Ser774Cys)
| |
| 1 | g.152312566T>C | CA342090539 | FLG | c.2320A>G (p.Ser774Gly)
| gnomAD v4 |
| 1 | g.152312566T>G | CA342090538 | FLG | c.2320A>C (p.Ser774Arg)
| |
| 1 | g.152312567C>A | CA342090543 | FLG | c.2319G>T (p.Gln773His)
| |
| 1 | g.152312567C= | CA2479951986 | FLG | c.2319G= (p.Gln773=)
| |
| 1 | g.152312567C>G | CA342090548 | FLG | c.2319G>C (p.Gln773His)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312567C>T | CA1107235 | FLG | c.2319G>A (p.Gln773=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312568T>A | CA342090554 | FLG | c.2318A>T (p.Gln773Leu)
| |
| 1 | g.152312568T>C | CA342090556 | FLG | c.2318A>G (p.Gln773Arg)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152312568T>G | CA342090558 | FLG | c.2318A>C (p.Gln773Pro)
| |
| 1 | g.152312568T= | CA2479951987 | FLG | c.2318A= (p.Gln773=)
| |
| 1 | g.152312569G>A | CA342090563 | FLG | c.2317C>T (p.Gln773Ter)
| |
| 1 | g.152312569G>C | CA342090566 | FLG | c.2317C>G (p.Gln773Glu)
| |
| 1 | g.152312569G= | CA2479951988 | FLG | c.2317C= (p.Gln773=)
| |
| 1 | g.152312569G>T | CA1107236 | FLG | c.2317C>A (p.Gln773Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312570C>A | CA1107237 | FLG | c.2316G>T (p.Gln772His)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312570C= | CA2479951989 | FLG | c.2316G= (p.Gln772=)
| |
| 1 | g.152312570C>G | CA342090573 | FLG | c.2316G>C (p.Gln772His)
| |
| 1 | g.152312570C>T | CA420930828 | FLG | c.2316G>A (p.Gln772=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312571T>A | CA342090574 | FLG | c.2315A>T (p.Gln772Leu)
| |
| 1 | g.152312571T>C | CA342090575 | FLG | c.2315A>G (p.Gln772Arg)
| |
| 1 | g.152312571T>G | CA342090577 | FLG | c.2315A>C (p.Gln772Pro)
| |
| 1 | g.152312572G>A | CA342090584 | FLG | c.2314C>T (p.Gln772Ter)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312572G>C | CA342090587 | FLG | c.2314C>G (p.Gln772Glu)
| |
| 1 | g.152312572G= | CA2479951990 | FLG | c.2314C= (p.Gln772=)
| |
| 1 | g.152312572G>T | CA342090579 | FLG | c.2314C>A (p.Gln772Lys)
| |
| 1 | g.152312573A>C | CA342090591 | FLG | c.2313T>G (p.His771Gln)
| |
| 1 | g.152312573A>G | CA420930829 | FLG | c.2313T>C (p.His771=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312573A>T | CA342090593 | FLG | c.2313T>A (p.His771Gln)
| |
| 1 | g.152312574T>A | CA342090601 | FLG | c.2312A>T (p.His771Leu)
| |
| 1 | g.152312574T>C | CA342090603 | FLG | c.2312A>G (p.His771Arg)
| |
| 1 | g.152312574T>G | CA342090604 | FLG | c.2312A>C (p.His771Pro)
| dbSNP |
| 1 | g.152312574T= | CA2479951991 | FLG | c.2312A= (p.His771=)
| |
| 1 | g.152312575G>A | CA1107238 | FLG | c.2311C>T (p.His771Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312575G>C | CA342090607 | FLG | c.2311C>G (p.His771Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312575G= | CA2479951992 | FLG | c.2311C= (p.His771=)
| |
| 1 | g.152312575G>T | CA342090609 | FLG | c.2311C>A (p.His771Asn)
| COSMIC |
| 1 | g.152312576G>A | CA420930833 | FLG | c.2310C>T (p.His770=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312576G>C | CA342090611 | FLG | c.2310C>G (p.His770Gln)
| gnomAD v4 |
| 1 | g.152312576G= | CA2479951993 | FLG | c.2310C= (p.His770=)
| |
| 1 | g.152312576G>T | CA342090612 | FLG | c.2310C>A (p.His770Gln)
| |
| 1 | g.152312577T>A | CA342090614 | FLG | c.2309A>T (p.His770Leu)
| |
| 1 | g.152312577T>C | CA342090615 | FLG | c.2309A>G (p.His770Arg)
| |
| 1 | g.152312577T>G | CA1107239 | FLG | c.2309A>C (p.His770Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312577T= | CA1143597489 | FLG | c.2309A= (p.His770=)
| |
| 1 | g.152312578G>A | CA342090621 | FLG | c.2308C>T (p.His770Tyr)
| |
| 1 | g.152312578G>C | CA342090619 | FLG | c.2308C>G (p.His770Asp)
| |
| 1 | g.152312578G>T | CA342090620 | FLG | c.2308C>A (p.His770Asn)
| |
| 1 | g.152312579A= | CA2479951995 | FLG | c.2307T= (p.Gly769=)
| |
| 1 | g.152312579A>C | CA1107240 | FLG | c.2307T>G (p.Gly769=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312579A>G | CA1107241 | FLG | c.2307T>C (p.Gly769=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312579A>T | CA420930920 | FLG | c.2307T>A (p.Gly769=)
| gnomAD v4 |
| 1 | g.152312579_152312580delinsAC | CA2479951994 | FLG | c.2306_2307delinsGT (p.Gly769=)
| |
| 1 | g.152312580C>A | CA342090625 | FLG | c.2306G>T (p.Gly769Val)
| gnomAD v4 COSMIC |
| 1 | g.152312580C= | CA2479951996 | FLG | c.2306G= (p.Gly769=)
| |
| 1 | g.152312580C>G | CA342090626 | FLG | c.2306G>C (p.Gly769Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312580C>T | CA342090628 | FLG | c.2306G>A (p.Gly769Asp)
| COSMIC |
| 1 | g.152312581del | CA526662268 | FLG | c.2306del (p.Gly769ValfsTer29)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312581C>A | CA342090630 | FLG | c.2305G>T (p.Gly769Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312581C= | CA2479951997 | FLG | c.2305G= (p.Gly769=)
| |
| 1 | g.152312581C>G | CA342090631 | FLG | c.2305G>C (p.Gly769Arg)
| |
| 1 | g.152312581C>T | CA342090633 | FLG | c.2305G>A (p.Gly769Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312582A>C | CA420930921 | FLG | c.2304T>G (p.Ala768=)
| |
| 1 | g.152312582A>G | CA420930922 | FLG | c.2304T>C (p.Ala768=)
| |
| 1 | g.152312582A>T | CA420930923 | FLG | c.2304T>A (p.Ala768=)
| |
| 1 | g.152312583G>A | CA1107242 | FLG | c.2303C>T (p.Ala768Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312583G>C | CA342090636 | FLG | c.2303C>G (p.Ala768Gly)
| |
| 1 | g.152312583G= | CA2479951998 | FLG | c.2303C= (p.Ala768=)
| |
| 1 | g.152312583G>T | CA342090637 | FLG | c.2303C>A (p.Ala768Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312584C>A | CA342090638 | FLG | c.2302G>T (p.Ala768Ser)
| dbSNP COSMIC |
| 1 | g.152312584C= | CA2479951999 | FLG | c.2302G= (p.Ala768=)
| |
| 1 | g.152312584C>G | CA342090640 | FLG | c.2302G>C (p.Ala768Pro)
| gnomAD v4 |
| 1 | g.152312584C>T | CA342090639 | FLG | c.2302G>A (p.Ala768Thr)
| gnomAD v4 |
| 1 | g.152312585C>A | CA342090641 | FLG | c.2301G>T (p.Gln767His)
| |
| 1 | g.152312585C>G | CA342090642 | FLG | c.2301G>C (p.Gln767His)
| gnomAD v4 |
| 1 | g.152312585C>T | CA420930924 | FLG | c.2301G>A (p.Gln767=)
| |
| 1 | g.152312586T>A | CA342090643 | FLG | c.2300A>T (p.Gln767Leu)
| |
| 1 | g.152312586T>C | CA342090644 | FLG | c.2300A>G (p.Gln767Arg)
| |
| 1 | g.152312586T>G | CA342090645 | FLG | c.2300A>C (p.Gln767Pro)
| |
| 1 | g.152312587G>A | CA1107243 | FLG | c.2299C>T (p.Gln767Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312587G>C | CA342090646 | FLG | c.2299C>G (p.Gln767Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312587G= | CA2479952000 | FLG | c.2299C= (p.Gln767=)
| |
| 1 | g.152312587G>T | CA342090647 | FLG | c.2299C>A (p.Gln767Lys)
| |
| 1 | g.152312588T>A | CA420930925 | FLG | c.2298A>T (p.Gly766=)
| |
| 1 | g.152312588T>C | CA420930927 | FLG | c.2298A>G (p.Gly766=)
| |
| 1 | g.152312588T>G | CA420930926 | FLG | c.2298A>C (p.Gly766=)
| |
| 1 | g.152312589C>A | CA342090648 | FLG | c.2297G>T (p.Gly766Val)
| dbSNP |
| 1 | g.152312589C= | CA1143364196 | FLG | c.2297G= (p.Gly766=)
| |
| 1 | g.152312589C>G | CA342090650 | FLG | c.2297G>C (p.Gly766Ala)
| |
| 1 | g.152312589C>T | CA1107244 | FLG | c.2297G>A (p.Gly766Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312590C>A | CA1107246 | FLG | c.2296G>T (p.Gly766Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312590C= | CA2479952001 | FLG | c.2296G= (p.Gly766=)
| |
| 1 | g.152312590C>G | CA342090657 | FLG | c.2296G>C (p.Gly766Arg)
| |
| 1 | g.152312590C>T | CA1107245 | FLG | c.2296G>A (p.Gly766Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312591A= | CA2479952002 | FLG | c.2295T= (p.His765=)
| |
| 1 | g.152312591A>C | CA342090663 | FLG | c.2295T>G (p.His765Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152312591A>G | CA420930928 | FLG | c.2295T>C (p.His765=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312591A>T | CA342090661 | FLG | c.2295T>A (p.His765Gln)
| |
| 1 | g.152312592T>A | CA1107247 | FLG | c.2294A>T (p.His765Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312592T>C | CA342090668 | FLG | c.2294A>G (p.His765Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312592T>G | CA342090671 | FLG | c.2294A>C (p.His765Pro)
| |
| 1 | g.152312592T= | CA2479952003 | FLG | c.2294A= (p.His765=)
| |
| 1 | g.152312593G>A | CA342090676 | FLG | c.2293C>T (p.His765Tyr)
| dbSNP |
| 1 | g.152312593G>C | CA342090677 | FLG | c.2293C>G (p.His765Asp)
| |
| 1 | g.152312593G= | CA2479952004 | FLG | c.2293C= (p.His765=)
| |
| 1 | g.152312593G>T | CA1107248 | FLG | c.2293C>A (p.His765Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312594G>A | CA420930929 | FLG | c.2292C>T (p.Gly764=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312594G>C | CA420930930 | FLG | c.2292C>G (p.Gly764=)
| dbSNP |
| 1 | g.152312594G= | CA2479952005 | FLG | c.2292C= (p.Gly764=)
| |
| 1 | g.152312594G>T | CA420930931 | FLG | c.2292C>A (p.Gly764=)
| dbSNP |
| 1 | g.152312595C>A | CA342090680 | FLG | c.2291G>T (p.Gly764Val)
| |
| 1 | g.152312595C= | CA2479952006 | FLG | c.2291G= (p.Gly764=)
| |
| 1 | g.152312595C>G | CA342090681 | FLG | c.2291G>C (p.Gly764Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312595C>T | CA342090683 | FLG | c.2291G>A (p.Gly764Asp)
| |
| 1 | g.152312596C>A | CA342090688 | FLG | c.2290G>T (p.Gly764Cys)
| |
| 1 | g.152312596C= | CA1148441148 | FLG | c.2290G= (p.Gly764=)
| |
| 1 | g.152312596C>G | CA1107249 | FLG | c.2290G>C (p.Gly764Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312596C>T | CA342090690 | FLG | c.2290G>A (p.Gly764Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152312597T>A | CA420930934 | FLG | c.2289A>T (p.Ser763=)
| |
| 1 | g.152312597T>C | CA420930933 | FLG | c.2289A>G (p.Ser763=)
| |
| 1 | g.152312597T>G | CA420930932 | FLG | c.2289A>C (p.Ser763=)
| gnomAD v4 |
| 1 | g.152312598G>A | CA342090700 | FLG | c.2288C>T (p.Ser763Leu)
| |
| 1 | g.152312598G>C | CA342090697 | FLG | c.2288C>G (p.Ser763Ter)
| |
| 1 | g.152312598G>T | CA342090694 | FLG | c.2288C>A (p.Ser763Ter)
| |
| 1 | g.152312599A>C | CA342090703 | FLG | c.2287T>G (p.Ser763Ala)
| |
| 1 | g.152312599A>G | CA342090705 | FLG | c.2287T>C (p.Ser763Pro)
| |
| 1 | g.152312599A>T | CA342090706 | FLG | c.2287T>A (p.Ser763Thr)
| |
| 1 | g.152312600C>A | CA1107250 | FLG | c.2286G>T (p.Val762=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312600C= | CA1141613844 | FLG | c.2286G= (p.Val762=)
| |
| 1 | g.152312600C>G | CA420930935 | FLG | c.2286G>C (p.Val762=)
| |
| 1 | g.152312600C>T | CA30562387 | FLG | c.2286G>A (p.Val762=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312600_152312604delinsCACTG | CA2479952007 | FLG | c.2282_2286delinsCAGTG (p.Ser761=)
| |
| 1 | g.152312601A= | CA2479952008 | FLG | c.2285T= (p.Val762=)
| |
| 1 | g.152312601A>C | CA342090712 | FLG | c.2285T>G (p.Val762Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312601A>G | CA342090713 | FLG | c.2285T>C (p.Val762Ala)
| |
| 1 | g.152312601A>T | CA342090717 | FLG | c.2285T>A (p.Val762Glu)
| |
| 1 | g.152312601_152312608delinsACTGACTG | CA1146598331 | FLG | c.2278_2285delinsCAGTCAGT (p.Gln760=)
| |
| 1 | g.152312605_152312608del | CA126361 | FLG | c.2282_2285del (p.Ser761CysfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152312602C>A | CA342090721 | FLG | c.2284G>T (p.Val762Leu)
| |
| 1 | g.152312602C>G | CA342090724 | FLG | c.2284G>C (p.Val762Leu)
| |
| 1 | g.152312602C>T | CA342090727 | FLG | c.2284G>A (p.Val762Met)
| gnomAD v4 |
| 1 | g.152312603T>A | CA420930936 | FLG | c.2283A>T (p.Ser761=)
| |
| 1 | g.152312603T>C | CA1107252 | FLG | c.2283A>G (p.Ser761=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312603T>G | CA1107251 | FLG | c.2283A>C (p.Ser761=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152312603T= | CA1140244462 | FLG | c.2283A= (p.Ser761=)
| |
| 1 | g.152312604G>A | CA1107253 | FLG | c.2282C>T (p.Ser761Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152312604G>C | CA342090731 | FLG | c.2282C>G (p.Ser761Ter)
| dbSNP |
| 1 | g.152312604G= | CA2479952009 | FLG | c.2282C= (p.Ser761=)
| |
| 1 | g.152312604G>T | CA342090734 | FLG | c.2282C>A (p.Ser761Ter)
| |
| 1 | g.152312605A= | CA2479952010 | FLG | c.2281T= (p.Ser761=)
| |
| 1 | g.152312605A>C | CA342090737 | FLG | c.2281T>G (p.Ser761Ala)
| |
| 1 | g.152312605A>G | CA342090739 | FLG | c.2281T>C (p.Ser761Pro)
| dbSNP gnomAD v4 |
| 1 | g.152312605A>T | CA342090740 | FLG | c.2281T>A (p.Ser761Thr)
| |
