Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152308547T>A | CA420928699 | FLG | c.6339A>T (p.Gly2113=) | |
1 | g.152308547T>C | CA420928702 | FLG | c.6339A>G (p.Gly2113=) | |
1 | g.152308547T>G | CA420928703 | FLG | c.6339A>C (p.Gly2113=) | |
1 | g.152308548C>A | CA342054003 | FLG | c.6338G>T (p.Gly2113Val) | gnomAD v4 |
1 | g.152308548C>G | CA342054020 | FLG | c.6338G>C (p.Gly2113Ala) | dbSNP |
1 | g.152308548C>T | CA342054023 | FLG | c.6338G>A (p.Gly2113Glu) | COSMIC |
1 | g.152308549C>A | CA342054027 | FLG | c.6337G>T (p.Gly2113Ter) | |
1 | g.152308549C= | CA2479949619 | FLG | c.6337G= (p.Gly2113=) | |
1 | g.152308549C>G | CA342054031 | FLG | c.6337G>C (p.Gly2113Arg) | dbSNP gnomAD v4 |
1 | g.152308549C>T | CA342054045 | FLG | c.6337G>A (p.Gly2113Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308550T>A | CA420928711 | FLG | c.6336A>T (p.Gly2112=) | gnomAD v4 |
1 | g.152308550T>C | CA1105292 | FLG | c.6336A>G (p.Gly2112=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308550T>G | CA420928706 | FLG | c.6336A>C (p.Gly2112=) | |
1 | g.152308550T= | CA1145954887 | FLG | c.6336A= (p.Gly2112=) | |
1 | g.152308550_152308551delinsTC | CA2479949621 | FLG | c.6335_6336delinsGA (p.Gly2112=) | |
1 | g.152308551C>A | CA342054054 | FLG | c.6335G>T (p.Gly2112Val) | |
1 | g.152308551C= | CA1141940548 | FLG | c.6335G= (p.Gly2112=) | |
1 | g.152308551C>G | CA342054058 | FLG | c.6335G>C (p.Gly2112Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308551C>T | CA1105293 | FLG | c.6335G>A (p.Gly2112Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308552del | CA889399855 | FLG | c.6335del (p.Gly2112GlufsTer?) | dbSNP |
1 | g.152308552C>A | CA1105294 | FLG | c.6334G>T (p.Gly2112Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308552C= | CA2479949623 | FLG | c.6334G= (p.Gly2112=) | |
1 | g.152308552C>G | CA342054067 | FLG | c.6334G>C (p.Gly2112Arg) | |
1 | g.152308552C>T | CA1105295 | FLG | c.6334G>A (p.Gly2112Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308553A= | CA2479949625 | FLG | c.6333T= (p.Thr2111=) | |
1 | g.152308553A>C | CA420928719 | FLG | c.6333T>G (p.Thr2111=) | gnomAD v4 |
1 | g.152308553A>G | CA420928720 | FLG | c.6333T>C (p.Thr2111=) | dbSNP gnomAD v4 |
1 | g.152308553A>T | CA420928723 | FLG | c.6333T>A (p.Thr2111=) | |
1 | g.152308554G>A | CA342054071 | FLG | c.6332C>T (p.Thr2111Ile) | dbSNP |
1 | g.152308554G>C | CA342054080 | FLG | c.6332C>G (p.Thr2111Ser) | |
1 | g.152308554G= | CA2479949628 | FLG | c.6332C= (p.Thr2111=) | |
1 | g.152308554G>T | CA342054084 | FLG | c.6332C>A (p.Thr2111Asn) | dbSNP |
1 | g.152308555T>A | CA342054088 | FLG | c.6331A>T (p.Thr2111Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308555T>C | CA1105296 | FLG | c.6331A>G (p.Thr2111Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308555T>G | CA342054104 | FLG | c.6331A>C (p.Thr2111Pro) | |
1 | g.152308555T= | CA2479949629 | FLG | c.6331A= (p.Thr2111=) | |
1 | g.152308556G>A | CA420928730 | FLG | c.6330C>T (p.Ser2110=) | dbSNP gnomAD v4 |
1 | g.152308556G>C | CA342054105 | FLG | c.6330C>G (p.Ser2110Arg) | |
1 | g.152308556G= | CA2479949631 | FLG | c.6330C= (p.Ser2110=) | |
1 | g.152308556G>T | CA1105297 | FLG | c.6330C>A (p.Ser2110Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308557C>A | CA342054107 | FLG | c.6329G>T (p.Ser2110Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308557C= | CA1143943728 | FLG | c.6329G= (p.Ser2110=) | |
1 | g.152308557C>G | CA342054109 | FLG | c.6329G>C (p.Ser2110Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308557C>T | CA1105298 | FLG | c.6329G>A (p.Ser2110Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308558T>A | CA342054110 | FLG | c.6328A>T (p.Ser2110Cys) | |
1 | g.152308558T>C | CA342054113 | FLG | c.6328A>G (p.Ser2110Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308558T>G | CA342054116 | FLG | c.6328A>C (p.Ser2110Arg) | |
1 | g.152308558T= | CA2479949633 | FLG | c.6328A= (p.Ser2110=) | |
1 | g.152308559G>A | CA420928740 | FLG | c.6327C>T (p.Pro2109=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308559G>C | CA420928741 | FLG | c.6327C>G (p.Pro2109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |