Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152313767_152313835delinsATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTC | CA2479952639 | FLG | c.1051_1119delinsGACAGCTCCAGACAATCAGGCACTCGTCACGCAGAGACTTCCTCTCGTGGACAGACTGCATCATCCCAT (p.Asp351=) n.309_377delinsATGGGATGATGCAGTCTGTCCACGAGAGGAAGTCTCTGCGTGACGAGTGCCTGATTGTCTGGAGCTGTC | |
1 | g.152313770_152313837del | CA526662278 | FLG | c.1051_1118del (p.Asp351Ter) n.312_379del | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313798G>A | CA342101297 | FLG | c.1088C>T (p.Thr363Ile) n.340G>A | |
1 | g.152313798G>C | CA342101289 | FLG | c.1088C>G (p.Thr363Ser) n.340G>C | |
1 | g.152313798G= | CA2479952654 | FLG | c.1088C= (p.Thr363=) n.340G= | |
1 | g.152313798G>T | CA342101296 | FLG | c.1088C>A (p.Thr363Asn) n.340G>T | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313799T>A | CA342101300 | FLG | c.1087A>T (p.Thr363Ser) n.341T>A | gnomAD v4 |
1 | g.152313799T>C | CA342101303 | FLG | c.1087A>G (p.Thr363Ala) n.341T>C | dbSNP gnomAD v4 |
1 | g.152313799T>G | CA342101305 | FLG | c.1087A>C (p.Thr363Pro) n.341T>G | |
1 | g.152313799T= | CA2479952655 | FLG | c.1087A= (p.Thr363=) n.341T= | |
1 | g.152313800C>A | CA1107794 | FLG | c.1086G>T (p.Glu362Asp) n.342C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313800C= | CA2479952656 | FLG | c.1086G= (p.Glu362=) n.342C= | |
1 | g.152313800C>G | CA342101308 | FLG | c.1086G>C (p.Glu362Asp) n.342C>G | gnomAD v4 |
1 | g.152313800C>T | CA420931835 | FLG | c.1086G>A (p.Glu362=) n.342C>T | |
1 | g.152313801T>A | CA342101313 | FLG | c.1085A>T (p.Glu362Val) n.343T>A | |
1 | g.152313801T>C | CA342101317 | FLG | c.1085A>G (p.Glu362Gly) n.343T>C | |
1 | g.152313801T>G | CA342101315 | FLG | c.1085A>C (p.Glu362Ala) n.343T>G | dbSNP gnomAD v4 |
1 | g.152313801T= | CA2479952657 | FLG | c.1085A= (p.Glu362=) n.343T= | |
1 | g.152313802C>A | CA342101320 | FLG | c.1084G>T (p.Glu362Ter) n.344C>A | |
1 | g.152313802C= | CA2479952658 | FLG | c.1084G= (p.Glu362=) n.344C= | |
1 | g.152313802C>G | CA1107795 | FLG | c.1084G>C (p.Glu362Gln) n.344C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313802C>T | CA342101323 | FLG | c.1084G>A (p.Glu362Lys) n.344C>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313803T>A | CA420931837 | FLG | c.1083A>T (p.Ala361=) n.345T>A | |
1 | g.152313803T>C | CA1107796 | FLG | c.1083A>G (p.Ala361=) n.345T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313803T>G | CA420931838 | FLG | c.1083A>C (p.Ala361=) n.345T>G | |
1 | g.152313803T= | CA2479952659 | FLG | c.1083A= (p.Ala361=) n.345T= | |
1 | g.152313804G>A | CA342101330 | FLG | c.1082C>T (p.Ala361Val) n.346G>A | |
1 | g.152313804G>C | CA342101333 | FLG | c.1082C>G (p.Ala361Gly) n.346G>C | |
1 | g.152313804G= | CA2479952660 | FLG | c.1082C= (p.Ala361=) n.346G= | |
1 | g.152313804G>T | CA1107797 | FLG | c.1082C>A (p.Ala361Glu) n.346G>T | dbSNP ExAC gnomAD v4 |
1 | g.152313805C>A | CA342101345 | FLG | c.1081G>T (p.Ala361Ser) n.347C>A | gnomAD v4 |
1 | g.152313805C= | CA1142339938 | FLG | c.1081G= (p.Ala361=) n.347C= | |
1 | g.152313805C>G | CA342101348 | FLG | c.1081G>C (p.Ala361Pro) n.347C>G | dbSNP gnomAD v4 |
1 | g.152313805C>T | CA1107798 | FLG | c.1081G>A (p.Ala361Thr) n.347C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152313806G>A | CA1107799 | FLG | c.1080C>T (p.His360=) n.348G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313806G>C | CA342101362 | FLG | c.1080C>G (p.His360Gln) n.348G>C | gnomAD v4 |
1 | g.152313806G= | CA1144083638 | FLG | c.1080C= (p.His360=) n.348G= | |
1 | g.152313806G>T | CA342101359 | FLG | c.1080C>A (p.His360Gln) n.348G>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313807T>A | CA342101370 | FLG | c.1079A>T (p.His360Leu) n.349T>A | |
1 | g.152313807T>C | CA342101376 | FLG | c.1079A>G (p.His360Arg) n.349T>C | |
1 | g.152313807T>G | CA342101372 | FLG | c.1079A>C (p.His360Pro) n.349T>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313807T= | CA2479952661 | FLG | c.1079A= (p.His360=) n.349T= | |
1 | g.152313808G>A | CA342101380 | FLG | c.1078C>T (p.His360Tyr) n.350G>A | gnomAD v4 |
1 | g.152313808G>C | CA342101382 | FLG | c.1078C>G (p.His360Asp) n.350G>C | |
1 | g.152313808G>T | CA342101384 | FLG | c.1078C>A (p.His360Asn) n.350G>T | |
1 | g.152313809A= | CA2479952662 | FLG | c.1077T= (p.Arg359=) n.351A= | |
1 | g.152313809A>C | CA420931839 | FLG | c.1077T>G (p.Arg359=) n.351A>C | |
1 | g.152313809A>G | CA420931840 | FLG | c.1077T>C (p.Arg359=) n.351A>G | gnomAD v4 |
1 | g.152313809A>T | CA1107800 | FLG | c.1077T>A (p.Arg359=) n.351A>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313810C>A | CA1107802 | FLG | c.1076G>T (p.Arg359Leu) n.352C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |