| 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.152304831_152304848delinsGTGTCTGACTCTTCTGAA | CA2479947667 | FLG | c.10038_10055delinsTTCAGAAGAGTCAGACAC (p.His3346=) c.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC (n.9108+930_9108+947delinsTTCAGAAGAGTCAGACAC) | |
| 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.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 |
| 1 | g.152304842T= | CA2479947674 | FLG | c.10044A= (p.Glu3348=) c.9108+936A= (n.9108+936A=) | |
| 1 | g.152304843T>A | CA342073595 | FLG | c.10043A>T (p.Glu3348Val) c.9108+935A>T (n.9108+935A>T) | |
| 1 | g.152304843T>C | CA342073603 | FLG | c.10043A>G (p.Glu3348Gly) c.9108+935A>G (n.9108+935A>G) | |
| 1 | g.152304843T>G | CA342073599 | FLG | c.10043A>C (p.Glu3348Ala) c.9108+935A>C (n.9108+935A>C) | |
| 1 | g.152304844C>A | CA342073609 | FLG | c.10042G>T (p.Glu3348Ter) c.9108+934G>T (n.9108+934G>T) | gnomAD v4 |
| 1 | g.152304844C>G | CA342073612 | FLG | c.10042G>C (p.Glu3348Gln) c.9108+934G>C (n.9108+934G>C) | |
| 1 | g.152304844C>T | CA342073617 | FLG | c.10042G>A (p.Glu3348Lys) c.9108+934G>A (n.9108+934G>A) | gnomAD v4 |
| 1 | g.152304845T>A | CA420927194 | FLG | c.10041A>T (p.Ser3347=) c.9108+933A>T (n.9108+933A>T) | |
| 1 | g.152304845T>C | CA420927192 | FLG | c.10041A>G (p.Ser3347=) c.9108+933A>G (n.9108+933A>G) | |
| 1 | g.152304845T>G | CA420927193 | FLG | c.10041A>C (p.Ser3347=) c.9108+933A>C (n.9108+933A>C) | |
| 1 | g.152304846G>A | CA1103572 | FLG | c.10040C>T (p.Ser3347Leu) c.9108+932C>T (n.9108+932C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304846G>C | CA342073622 | FLG | c.10040C>G (p.Ser3347Ter) c.9108+932C>G (n.9108+932C>G) | |
| 1 | g.152304846G= | CA2479947675 | FLG | c.10040C= (p.Ser3347=) c.9108+932C= (n.9108+932C=) | |
| 1 | g.152304846G>T | CA342073623 | FLG | c.10040C>A (p.Ser3347Ter) c.9108+932C>A (n.9108+932C>A) | |
| 1 | g.152304847A= | CA2479947676 | FLG | c.10039T= (p.Ser3347=) c.9108+931T= (n.9108+931T=) | |
| 1 | g.152304847A>C | CA342073626 | FLG | c.10039T>G (p.Ser3347Ala) c.9108+931T>G (n.9108+931T>G) | |
| 1 | g.152304847A>G | CA342073629 | FLG | c.10039T>C (p.Ser3347Pro) c.9108+931T>C (n.9108+931T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304847A>T | CA342073636 | FLG | c.10039T>A (p.Ser3347Thr) c.9108+931T>A (n.9108+931T>A) | |
| 1 | g.152304848del | CA2574057967 | FLG | c.10039del (p.Ser3347GlnfsTer?) c.9108+931del (n.9108+931del) | |
| 1 | g.152304848A= | CA2479947677 | FLG | c.10038T= (p.His3346=) c.9108+930T= (n.9108+930T=) | |
| 1 | g.152304848A>C | CA342073638 | FLG | c.10038T>G (p.His3346Gln) c.9108+930T>G (n.9108+930T>G) | |
| 1 | g.152304848A>G | CA420927203 | FLG | c.10038T>C (p.His3346=) c.9108+930T>C (n.9108+930T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304848A>T | CA342073646 | FLG | c.10038T>A (p.His3346Gln) c.9108+930T>A (n.9108+930T>A) | |
| 1 | g.152304849T>A | CA342073658 | FLG | c.10037A>T (p.His3346Leu) c.9108+929A>T (n.9108+929A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304849T>C | CA342073651 | FLG | c.10037A>G (p.His3346Arg) c.9108+929A>G (n.9108+929A>G) | |
| 1 | g.152304849T>G | CA342073654 | FLG | c.10037A>C (p.His3346Pro) c.9108+929A>C (n.9108+929A>C) | |
| 1 | g.152304849T= | CA2479947678 | FLG | c.10037A= (p.His3346=) c.9108+929A= (n.9108+929A=) | |
| 1 | g.152304850G>A | CA342073661 | FLG | c.10036C>T (p.His3346Tyr) c.9108+928C>T (n.9108+928C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304850G>C | CA342073675 | FLG | c.10036C>G (p.His3346Asp) c.9108+928C>G (n.9108+928C>G) | gnomAD v4 |
| 1 | g.152304850G= | CA2479947679 | FLG | c.10036C= (p.His3346=) c.9108+928C= (n.9108+928C=) | |
| 1 | g.152304850G>T | CA342073672 | FLG | c.10036C>A (p.His3346Asn) c.9108+928C>A (n.9108+928C>A) | gnomAD v4 |
| 1 | g.152304851T>A | CA420927208 | FLG | c.10035A>T (p.Gly3345=) c.9108+927A>T (n.9108+927A>T) | |
| 1 | g.152304851T>C | CA420927209 | FLG | c.10035A>G (p.Gly3345=) c.9108+927A>G (n.9108+927A>G) | dbSNP gnomAD v3 gnomAD v4 |