| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.152304939G>A | CA342074416 | FLG | c.9947C>T (p.Ser3316Leu) c.9108+839C>T (n.9108+839C>T) | |
| 1 | g.152304939G>C | CA1103615 | FLG | c.9947C>G (p.Ser3316Ter) c.9108+839C>G (n.9108+839C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304939G= | CA1142305986 | FLG | c.9947C= (p.Ser3316=) c.9108+839C= (n.9108+839C=) | |
| 1 | g.152304939G>T | CA342074419 | FLG | c.9947C>A (p.Ser3316Ter) c.9108+839C>A (n.9108+839C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304940A>C | CA342074428 | FLG | c.9946T>G (p.Ser3316Ala) c.9108+838T>G (n.9108+838T>G) | |
| 1 | g.152304940A>G | CA342074425 | FLG | c.9946T>C (p.Ser3316Pro) c.9108+838T>C (n.9108+838T>C) | |
| 1 | g.152304940A>T | CA342074422 | FLG | c.9946T>A (p.Ser3316Thr) c.9108+838T>A (n.9108+838T>A) | |
| 1 | g.152304941G>A | CA420926732 | FLG | c.9945C>T (p.His3315=) c.9108+837C>T (n.9108+837C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304941G>C | CA1103616 | FLG | c.9945C>G (p.His3315Gln) c.9108+837C>G (n.9108+837C>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.152304941G= | CA2479947732 | FLG | c.9945C= (p.His3315=) c.9108+837C= (n.9108+837C=) | |
| 1 | g.152304941G>T | CA342074439 | FLG | c.9945C>A (p.His3315Gln) c.9108+837C>A (n.9108+837C>A) | |
| 1 | g.152304942T>A | CA342074443 | FLG | c.9944A>T (p.His3315Leu) c.9108+836A>T (n.9108+836A>T) | |
| 1 | g.152304942T>C | CA342074447 | FLG | c.9944A>G (p.His3315Arg) c.9108+836A>G (n.9108+836A>G) | |
| 1 | g.152304942T>G | CA342074451 | FLG | c.9944A>C (p.His3315Pro) c.9108+836A>C (n.9108+836A>C) | COSMIC |
| 1 | g.152304943G>A | CA342074457 | FLG | c.9943C>T (p.His3315Tyr) c.9108+835C>T (n.9108+835C>T) | dbSNP gnomAD v4 |
| 1 | g.152304943G>C | CA342074459 | FLG | c.9943C>G (p.His3315Asp) c.9108+835C>G (n.9108+835C>G) | |
| 1 | g.152304943G= | CA2479947733 | FLG | c.9943C= (p.His3315=) c.9108+835C= (n.9108+835C=) | |
| 1 | g.152304943G>T | CA342074461 | FLG | c.9943C>A (p.His3315Asn) c.9108+835C>A (n.9108+835C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304944T>A | CA342074463 | FLG | c.9942A>T (p.Arg3314Ser) c.9108+834A>T (n.9108+834A>T) | |
| 1 | g.152304944T>C | CA420926736 | FLG | c.9942A>G (p.Arg3314=) c.9108+834A>G (n.9108+834A>G) | |
| 1 | g.152304944T>G | CA342074464 | FLG | c.9942A>C (p.Arg3314Ser) c.9108+834A>C (n.9108+834A>C) | |
| 1 | g.152304945C>A | CA342074465 | FLG | c.9941G>T (p.Arg3314Ile) c.9108+833G>T (n.9108+833G>T) | |
| 1 | g.152304945C>G | CA342074466 | FLG | c.9941G>C (p.Arg3314Thr) c.9108+833G>C (n.9108+833G>C) | |
| 1 | g.152304945C>T | CA342074467 | FLG | c.9941G>A (p.Arg3314Lys) c.9108+833G>A (n.9108+833G>A) | gnomAD v4 |
| 1 | g.152304946T>A | CA342074469 | FLG | c.9940A>T (p.Arg3314Ter) c.9108+832A>T (n.9108+832A>T) | COSMIC |
| 1 | g.152304946T>C | CA1103617 | FLG | c.9940A>G (p.Arg3314Gly) c.9108+832A>G (n.9108+832A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304946T>G | CA420926739 | FLG | c.9940A>C (p.Arg3314=) c.9108+832A>C (n.9108+832A>C) | |
| 1 | g.152304946T= | CA2479947734 | FLG | c.9940A= (p.Arg3314=) c.9108+832A= (n.9108+832A=) | |
| 1 | g.152304947G>A | CA420926741 | FLG | c.9939C>T (p.Ser3313=) c.9108+831C>T (n.9108+831C>T) | |
| 1 | g.152304947G>C | CA420926742 | FLG | c.9939C>G (p.Ser3313=) c.9108+831C>G (n.9108+831C>G) | |
| 1 | g.152304947G>T | CA420926743 | FLG | c.9939C>A (p.Ser3313=) c.9108+831C>A (n.9108+831C>A) | |
| 1 | g.152304948G>A | CA342074473 | FLG | c.9938C>T (p.Ser3313Phe) c.9108+830C>T (n.9108+830C>T) | gnomAD v4 |
| 1 | g.152304948G>C | CA1103618 | FLG | c.9938C>G (p.Ser3313Cys) c.9108+830C>G (n.9108+830C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304948G= | CA2479947735 | FLG | c.9938C= (p.Ser3313=) c.9108+830C= (n.9108+830C=) | |
| 1 | g.152304948G>T | CA342074475 | FLG | c.9938C>A (p.Ser3313Tyr) c.9108+830C>A (n.9108+830C>A) | dbSNP |
| 1 | g.152304949A= | CA2479947736 | FLG | c.9937T= (p.Ser3313=) c.9108+829T= (n.9108+829T=) | |
| 1 | g.152304949A>C | CA342074478 | FLG | c.9937T>G (p.Ser3313Ala) c.9108+829T>G (n.9108+829T>G) | gnomAD v4 |
| 1 | g.152304949A>G | CA342074485 | FLG | c.9937T>C (p.Ser3313Pro) c.9108+829T>C (n.9108+829T>C) | dbSNP |
| 1 | g.152304949A>T | CA342074489 | FLG | c.9937T>A (p.Ser3313Thr) c.9108+829T>A (n.9108+829T>A) | |
| 1 | g.152304950G>A | CA420926746 | FLG | c.9936C>T (p.Ser3312=) c.9108+828C>T (n.9108+828C>T) | |
| 1 | g.152304950G>C | CA342074493 | FLG | c.9936C>G (p.Ser3312Arg) c.9108+828C>G (n.9108+828C>G) | |
| 1 | g.152304950G>T | CA342074500 | FLG | c.9936C>A (p.Ser3312Arg) c.9108+828C>A (n.9108+828C>A) | |
| 1 | g.152304951C>A | CA342074503 | FLG | c.9935G>T (p.Ser3312Ile) c.9108+827G>T (n.9108+827G>T) | |
| 1 | g.152304951C= | CA2479947737 | FLG | c.9935G= (p.Ser3312=) c.9108+827G= (n.9108+827G=) | |
| 1 | g.152304951C>G | CA342074505 | FLG | c.9935G>C (p.Ser3312Thr) c.9108+827G>C (n.9108+827G>C) | dbSNP |
| 1 | g.152304951C>T | CA342074507 | FLG | c.9935G>A (p.Ser3312Asn) c.9108+827G>A (n.9108+827G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304952T>A | CA342074511 | FLG | c.9934A>T (p.Ser3312Cys) c.9108+826A>T (n.9108+826A>T) | dbSNP |
| 1 | g.152304952T>C | CA342074514 | FLG | c.9934A>G (p.Ser3312Gly) c.9108+826A>G (n.9108+826A>G) | |
| 1 | g.152304952T>G | CA342074518 | FLG | c.9934A>C (p.Ser3312Arg) c.9108+826A>C (n.9108+826A>C) | |
| 1 | g.152304952T= | CA2479947738 | FLG | c.9934A= (p.Ser3312=) c.9108+826A= (n.9108+826A=) |