Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304762_152304858del | CA2647993540 | FLG | c.10030_10126del (p.Glu3344GlnfsTer15) c.9108+922_9109-927del (n.9108+922_9109-927del) | gnomAD v4 |
1 | g.152304831G>A | CA342073487 | FLG | c.10055C>T (p.Thr3352Ile) c.9108+947C>T (n.9108+947C>T) | gnomAD v4 |
1 | g.152304831G>C | CA1103563 | FLG | c.10055C>G (p.Thr3352Arg) c.9108+947C>G (n.9108+947C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304831G= | CA1142310995 | FLG | c.10055C= (p.Thr3352=) c.9108+947C= (n.9108+947C=) | |
1 | g.152304831G>T | CA342073480 | FLG | c.10055C>A (p.Thr3352Lys) c.9108+947C>A (n.9108+947C>A) | gnomAD v4 |
1 | g.152304831_152304835delinsGTGTC | CA2479947666 | FLG | c.10051_10055delinsGACAC (p.Asp3351=) c.9108+943_9108+947delinsGACAC (n.9108+943_9108+947delinsGACAC) | |
1 | g.152304831_152304848delinsGTGTCTGACTCTTCTGAA | CA2479947667 | FLG | c.10038_10055delinsTTCAGAAGAGTCAGACAC (p.His3346=) c.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC (n.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC) | |
1 | g.152304832T>A | CA342073490 | FLG | c.10054A>T (p.Thr3352Ser) c.9108+946A>T (n.9108+946A>T) | |
1 | g.152304832T>C | CA1103565 | FLG | c.10054A>G (p.Thr3352Ala) c.9108+946A>G (n.9108+946A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304832T>G | CA342073495 | FLG | c.10054A>C (p.Thr3352Pro) c.9108+946A>C (n.9108+946A>C) | |
1 | g.152304832T= | CA2479947668 | FLG | c.10054A= (p.Thr3352=) c.9108+946A= (n.9108+946A=) | |
1 | g.152304832_152304837delinsTGTCTG | CA1148399511 | FLG | c.10049_10054delinsCAGACA (p.Ser3350=) c.9108+941_9108+946delinsCAGACA (n.9108+941_9108+946delinsCAGACA) | |
1 | g.152304834_152304837del | CA1103564 | FLG | c.10051_10054del (p.Asp3351HisfsTer?) c.9108+943_9108+946del (n.9108+943_9108+946del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304836_152304852del | CA889396928 | FLG | c.10038_10054del (p.Ser3347ThrfsTer22) c.9108+930_9108+946del (n.9108+930_9108+946del) | dbSNP gnomAD v4 |
1 | g.152304833G>A | CA1103566 | FLG | c.10053C>T (p.Asp3351=) c.9108+945C>T (n.9108+945C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304833G>C | CA342073501 | FLG | c.10053C>G (p.Asp3351Glu) c.9108+945C>G (n.9108+945C>G) | gnomAD v4 |
1 | g.152304833G= | CA1140532684 | FLG | c.10053C= (p.Asp3351=) c.9108+945C= (n.9108+945C=) | |
1 | g.152304833G>T | CA342073504 | FLG | c.10053C>A (p.Asp3351Glu) c.9108+945C>A (n.9108+945C>A) | gnomAD v4 |
1 | g.152304834T>A | CA342073509 | FLG | c.10052A>T (p.Asp3351Val) c.9108+944A>T (n.9108+944A>T) | |
1 | g.152304834T>C | CA342073513 | FLG | c.10052A>G (p.Asp3351Gly) c.9108+944A>G (n.9108+944A>G) | |
1 | g.152304834T>G | CA342073520 | FLG | c.10052A>C (p.Asp3351Ala) c.9108+944A>C (n.9108+944A>C) | |
1 | g.152304835C>A | CA342073524 | FLG | c.10051G>T (p.Asp3351Tyr) c.9108+943G>T (n.9108+943G>T) | |
1 | g.152304835C= | CA2479947669 | FLG | c.10051G= (p.Asp3351=) c.9108+943G= (n.9108+943G=) | |
1 | g.152304835C>G | CA342073526 | FLG | c.10051G>C (p.Asp3351His) c.9108+943G>C (n.9108+943G>C) | |
1 | g.152304835C>T | CA1103567 | FLG | c.10051G>A (p.Asp3351Asn) c.9108+943G>A (n.9108+943G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304836T>A | CA420927163 | FLG | c.10050A>T (p.Ser3350=) c.9108+942A>T (n.9108+942A>T) | |
1 | g.152304836T>C | CA420927166 | FLG | c.10050A>G (p.Ser3350=) c.9108+942A>G (n.9108+942A>G) | |
1 | g.152304836T>G | CA420927168 | FLG | c.10050A>C (p.Ser3350=) c.9108+942A>C (n.9108+942A>C) | gnomAD v4 |
1 | g.152304837G>A | CA342073536 | FLG | c.10049C>T (p.Ser3350Leu) c.9108+941C>T (n.9108+941C>T) | |
1 | g.152304837G>C | CA342073533 | FLG | c.10049C>G (p.Ser3350Ter) c.9108+941C>G (n.9108+941C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304837G= | CA2479947670 | FLG | c.10049C= (p.Ser3350=) c.9108+941C= (n.9108+941C=) | |
1 | g.152304837G>T | CA342073534 | FLG | c.10049C>A (p.Ser3350Ter) c.9108+941C>A (n.9108+941C>A) | |
1 | g.152304838A= | CA2479947671 | FLG | c.10048T= (p.Ser3350=) c.9108+940T= (n.9108+940T=) | |
1 | g.152304838A>C | CA342073539 | FLG | c.10048T>G (p.Ser3350Ala) c.9108+940T>G (n.9108+940T>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304838A>G | CA342073543 | FLG | c.10048T>C (p.Ser3350Pro) c.9108+940T>C (n.9108+940T>C) | |
1 | g.152304838A>T | CA342073552 | FLG | c.10048T>A (p.Ser3350Thr) c.9108+940T>A (n.9108+940T>A) | |
1 | g.152304839C>A | CA342073562 | FLG | c.10047G>T (p.Glu3349Asp) c.9108+939G>T (n.9108+939G>T) | |
1 | g.152304839C= | CA2479947672 | FLG | c.10047G= (p.Glu3349=) c.9108+939G= (n.9108+939G=) | |
1 | g.152304839C>G | CA1103568 | FLG | c.10047G>C (p.Glu3349Asp) c.9108+939G>C (n.9108+939G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304839C>T | CA1103569 | FLG | c.10047G>A (p.Glu3349=) c.9108+939G>A (n.9108+939G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304840T>A | CA342073577 | FLG | c.10046A>T (p.Glu3349Val) c.9108+938A>T (n.9108+938A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304840T>C | CA342073569 | FLG | c.10046A>G (p.Glu3349Gly) c.9108+938A>G (n.9108+938A>G) | |
1 | g.152304840T>G | CA342073566 | FLG | c.10046A>C (p.Glu3349Ala) c.9108+938A>C (n.9108+938A>C) | |
1 | g.152304840T= | CA2479947673 | FLG | c.10046A= (p.Glu3349=) c.9108+938A= (n.9108+938A=) | |
1 | g.152304841C>A | CA342073580 | FLG | c.10045G>T (p.Glu3349Ter) c.9108+937G>T (n.9108+937G>T) | gnomAD v4 |
1 | g.152304841C>G | CA342073581 | FLG | c.10045G>C (p.Glu3349Gln) c.9108+937G>C (n.9108+937G>C) | |
1 | g.152304841C>T | CA342073582 | FLG | c.10045G>A (p.Glu3349Lys) c.9108+937G>A (n.9108+937G>A) | gnomAD v4 |
1 | g.152304842T>A | CA342073588 | FLG | c.10044A>T (p.Glu3348Asp) c.9108+936A>T (n.9108+936A>T) | |
1 | g.152304842T>C | CA1103570 | FLG | c.10044A>G (p.Glu3348=) c.9108+936A>G (n.9108+936A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304842T>G | CA1103571 | FLG | c.10044A>C (p.Glu3348Asp) c.9108+936A>C (n.9108+936A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |