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.152313793_152313794delinsAG | CA2479952652 | FLG | c.1092_1093delinsCT (p.Ser364=) n.335_336delinsAG | |
1 | g.152313794G>A | CA420931826 | FLG | c.1092C>T (p.Ser364=) n.336G>A | |
1 | g.152313794G>C | CA420931827 | FLG | c.1092C>G (p.Ser364=) n.336G>C | |
1 | g.152313794G>T | CA420931828 | FLG | c.1092C>A (p.Ser364=) n.336G>T | gnomAD v4 |
1 | g.152313795del | CA889445788 | FLG | c.1092del (p.Ser365LeufsTer?) n.337del | dbSNP |
1 | g.152313795G>A | CA342101264 | FLG | c.1091C>T (p.Ser364Phe) n.337G>A | gnomAD v4 |
1 | g.152313795G>C | CA342101267 | FLG | c.1091C>G (p.Ser364Cys) n.337G>C | |
1 | g.152313795G>T | CA342101270 | FLG | c.1091C>A (p.Ser364Tyr) n.337G>T | |
1 | g.152313796A= | CA2479952653 | FLG | c.1090T= (p.Ser364=) n.338A= | |
1 | g.152313796A>C | CA342101273 | FLG | c.1090T>G (p.Ser364Ala) n.338A>C | |
1 | g.152313796A>G | CA342101281 | FLG | c.1090T>C (p.Ser364Pro) n.338A>G | gnomAD v4 |
1 | g.152313796A>T | CA342101284 | FLG | c.1090T>A (p.Ser364Thr) n.338A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313797A>C | CA420931831 | FLG | c.1089T>G (p.Thr363=) n.339A>C | |
1 | g.152313797A>G | CA420931833 | FLG | c.1089T>C (p.Thr363=) n.339A>G | |
1 | g.152313797A>T | CA420931834 | FLG | c.1089T>A (p.Thr363=) n.339A>T | |
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 |