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.152313788A= | CA2479952649 | FLG | c.1098T= (p.Arg366=) n.330A= | |
1 | g.152313788A>C | CA1107790 | FLG | c.1098T>G (p.Arg366=) n.330A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313788A>G | CA420931819 | FLG | c.1098T>C (p.Arg366=) n.330A>G | gnomAD v4 |
1 | g.152313788A>T | CA420931820 | FLG | c.1098T>A (p.Arg366=) n.330A>T | |
1 | g.152313789C>A | CA342101236 | FLG | c.1097G>T (p.Arg366Leu) n.331C>A | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313789C= | CA1142182651 | FLG | c.1097G= (p.Arg366=) n.331C= | |
1 | g.152313789C>G | CA342101240 | FLG | c.1097G>C (p.Arg366Pro) n.331C>G | |
1 | g.152313789C>T | CA1107791 | FLG | c.1097G>A (p.Arg366His) n.331C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313790G>A | CA30567213 | FLG | c.1096C>T (p.Arg366Cys) n.332G>A | dbSNP gnomAD v4 |
1 | g.152313790G>C | CA342101246 | FLG | c.1096C>G (p.Arg366Gly) n.332G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313790G= | CA1143828667 | FLG | c.1096C= (p.Arg366=) n.332G= | |
1 | g.152313790G>T | CA1107792 | FLG | c.1096C>A (p.Arg366Ser) n.332G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152313791A>C | CA420931822 | FLG | c.1095T>G (p.Ser365=) n.333A>C | |
1 | g.152313791A>G | CA420931823 | FLG | c.1095T>C (p.Ser365=) n.333A>G | gnomAD v4 |
1 | g.152313791A>T | CA420931824 | FLG | c.1095T>A (p.Ser365=) n.333A>T | |
1 | g.152313792G>A | CA342101250 | FLG | c.1094C>T (p.Ser365Phe) n.334G>A | gnomAD v4 COSMIC |
1 | g.152313792G>C | CA1107793 | FLG | c.1094C>G (p.Ser365Cys) n.334G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152313792G= | CA2479952650 | FLG | c.1094C= (p.Ser365=) n.334G= | |
1 | g.152313792G>T | CA342101254 | FLG | c.1094C>A (p.Ser365Tyr) n.334G>T | COSMIC |
1 | g.152313793A= | CA2479952651 | FLG | c.1093T= (p.Ser365=) n.335A= | |
1 | g.152313793A>C | CA342101259 | FLG | c.1093T>G (p.Ser365Ala) n.335A>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152313793A>G | CA342101258 | FLG | c.1093T>C (p.Ser365Pro) n.335A>G | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152313793A>T | CA342101257 | FLG | c.1093T>A (p.Ser365Thr) n.335A>T | |
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= |