Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304932A>C | CA342074372 | FLG | c.9954T>G (p.Ile3318Met) c.9108+846T>G (n.9108+846T>G) | |
1 | g.152304932A>G | CA420926717 | FLG | c.9954T>C (p.Ile3318=) c.9108+846T>C (n.9108+846T>C) | |
1 | g.152304932A>T | CA420926718 | FLG | c.9954T>A (p.Ile3318=) c.9108+846T>A (n.9108+846T>A) | |
1 | g.152304933A= | CA1142048012 | FLG | c.9953T= (p.Ile3318=) c.9108+845T= (n.9108+845T=) | |
1 | g.152304933A>C | CA342074373 | FLG | c.9953T>G (p.Ile3318Ser) c.9108+845T>G (n.9108+845T>G) | |
1 | g.152304933A>G | CA1103613 | FLG | c.9953T>C (p.Ile3318Thr) c.9108+845T>C (n.9108+845T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304933A>T | CA342074378 | FLG | c.9953T>A (p.Ile3318Asn) c.9108+845T>A (n.9108+845T>A) | |
1 | g.152304934T>A | CA342074382 | FLG | c.9952A>T (p.Ile3318Phe) c.9108+844A>T (n.9108+844A>T) | gnomAD v4 |
1 | g.152304934T>C | CA342074387 | FLG | c.9952A>G (p.Ile3318Val) c.9108+844A>G (n.9108+844A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304934T>G | CA342074384 | FLG | c.9952A>C (p.Ile3318Leu) c.9108+844A>C (n.9108+844A>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304934T= | CA2479947728 | FLG | c.9952A= (p.Ile3318=) c.9108+844A= (n.9108+844A=) | |
1 | g.152304935G>A | CA420926723 | FLG | c.9951C>T (p.Gly3317=) c.9108+843C>T (n.9108+843C>T) | |
1 | g.152304935G>C | CA420926724 | FLG | c.9951C>G (p.Gly3317=) c.9108+843C>G (n.9108+843C>G) | dbSNP |
1 | g.152304935G= | CA2479947729 | FLG | c.9951C= (p.Gly3317=) c.9108+843C= (n.9108+843C=) | |
1 | g.152304935G>T | CA420926725 | FLG | c.9951C>A (p.Gly3317=) c.9108+843C>A (n.9108+843C>A) | gnomAD v4 |
1 | g.152304936C>A | CA342074395 | FLG | c.9950G>T (p.Gly3317Val) c.9108+842G>T (n.9108+842G>T) | |
1 | g.152304936C>G | CA342074397 | FLG | c.9950G>C (p.Gly3317Ala) c.9108+842G>C (n.9108+842G>C) | |
1 | g.152304936C>T | CA342074400 | FLG | c.9950G>A (p.Gly3317Asp) c.9108+842G>A (n.9108+842G>A) | |
1 | g.152304937C>A | CA342074402 | FLG | c.9949G>T (p.Gly3317Cys) c.9108+841G>T (n.9108+841G>T) | |
1 | g.152304937C= | CA2479947730 | FLG | c.9949G= (p.Gly3317=) c.9108+841G= (n.9108+841G=) | |
1 | g.152304937C>G | CA30602680 | FLG | c.9949G>C (p.Gly3317Arg) c.9108+841G>C (n.9108+841G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304937C>T | CA342074407 | FLG | c.9949G>A (p.Gly3317Ser) c.9108+841G>A (n.9108+841G>A) | |
1 | g.152304938T>A | CA420926727 | FLG | c.9948A>T (p.Ser3316=) c.9108+840A>T (n.9108+840A>T) | |
1 | g.152304938T>C | CA1103614 | FLG | c.9948A>G (p.Ser3316=) c.9108+840A>G (n.9108+840A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304938T>G | CA420926726 | FLG | c.9948A>C (p.Ser3316=) c.9108+840A>C (n.9108+840A>C) | |
1 | g.152304938T= | CA2479947731 | FLG | c.9948A= (p.Ser3316=) c.9108+840A= (n.9108+840A=) | |
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=) | |
1 | g.152304953G>A | CA420926748 | FLG | c.9933C>T (p.Asp3311=) c.9108+825C>T (n.9108+825C>T) | |
1 | g.152304953G>C | CA342074521 | FLG | c.9933C>G (p.Asp3311Glu) c.9108+825C>G (n.9108+825C>G) | |
1 | g.152304953G>T | CA342074524 | FLG | c.9933C>A (p.Asp3311Glu) c.9108+825C>A (n.9108+825C>A) | |
1 | g.152304954T>A | CA342074527 | FLG | c.9932A>T (p.Asp3311Val) c.9108+824A>T (n.9108+824A>T) | |
1 | g.152304954T>C | CA342074534 | FLG | c.9932A>G (p.Asp3311Gly) c.9108+824A>G (n.9108+824A>G) | |
1 | g.152304954T>G | CA342074532 | FLG | c.9932A>C (p.Asp3311Ala) c.9108+824A>C (n.9108+824A>C) | |
1 | g.152304955C>A | CA342074538 | FLG | c.9931G>T (p.Asp3311Tyr) c.9108+823G>T (n.9108+823G>T) | |
1 | g.152304955C>G | CA342074541 | FLG | c.9931G>C (p.Asp3311His) c.9108+823G>C (n.9108+823G>C) | |
1 | g.152304955C>T | CA342074543 | FLG | c.9931G>A (p.Asp3311Asn) c.9108+823G>A (n.9108+823G>A) | |
1 | g.152304956T>A | CA420926749 | FLG | c.9930A>T (p.Ala3310=) c.9108+822A>T (n.9108+822A>T) | |
1 | g.152304956T>C | CA420926751 | FLG | c.9930A>G (p.Ala3310=) c.9108+822A>G (n.9108+822A>G) | dbSNP gnomAD v4 |
1 | g.152304956T>G | CA420926753 | FLG | c.9930A>C (p.Ala3310=) c.9108+822A>C (n.9108+822A>C) | |
1 | g.152304956T= | CA2479947739 | FLG | c.9930A= (p.Ala3310=) c.9108+822A= (n.9108+822A=) | |
1 | g.152304959_152305091del | CA526662124 | FLG | c.9798_9930del (p.His3266GlnfsTer?) c.9108+690_9108+822del (n.9108+690_9108+822del) | gnomAD v2 |
1 | g.152304957G>A | CA1103619 | FLG | c.9929C>T (p.Ala3310Val) c.9108+821C>T (n.9108+821C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304957G>C | CA342074549 | FLG | c.9929C>G (p.Ala3310Gly) c.9108+821C>G (n.9108+821C>G) | gnomAD v4 |
1 | g.152304957G= | CA2479947740 | FLG | c.9929C= (p.Ala3310=) c.9108+821C= (n.9108+821C=) | |
1 | g.152304957G>T | CA342074553 | FLG | c.9929C>A (p.Ala3310Glu) c.9108+821C>A (n.9108+821C>A) | dbSNP gnomAD v4 |
1 | g.152304958C>A | CA342074554 | FLG | c.9928G>T (p.Ala3310Ser) c.9108+820G>T (n.9108+820G>T) | |
1 | g.152304958C= | CA2479947741 | FLG | c.9928G= (p.Ala3310=) c.9108+820G= (n.9108+820G=) | |
1 | g.152304958C>G | CA342074555 | FLG | c.9928G>C (p.Ala3310Pro) c.9108+820G>C (n.9108+820G>C) | dbSNP |
1 | g.152304958C>T | CA342074556 | FLG | c.9928G>A (p.Ala3310Thr) c.9108+820G>A (n.9108+820G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304959T>A | CA420926759 | FLG | c.9927A>T (p.Ser3309=) c.9108+819A>T (n.9108+819A>T) | |
1 | g.152304959T>C | CA420926761 | FLG | c.9927A>G (p.Ser3309=) c.9108+819A>G (n.9108+819A>G) | |
1 | g.152304959T>G | CA420926760 | FLG | c.9927A>C (p.Ser3309=) c.9108+819A>C (n.9108+819A>C) | |
1 | g.152304960G>A | CA342074558 | FLG | c.9926C>T (p.Ser3309Leu) c.9108+818C>T (n.9108+818C>T) | |
1 | g.152304960G>C | CA342074561 | FLG | c.9926C>G (p.Ser3309Ter) c.9108+818C>G (n.9108+818C>G) | dbSNP |
1 | g.152304960G= | CA2479947742 | FLG | c.9926C= (p.Ser3309=) c.9108+818C= (n.9108+818C=) | |
1 | g.152304960G>T | CA342074563 | FLG | c.9926C>A (p.Ser3309Ter) c.9108+818C>A (n.9108+818C>A) | |
1 | g.152304961A>C | CA342074584 | FLG | c.9925T>G (p.Ser3309Ala) c.9108+817T>G (n.9108+817T>G) | |
1 | g.152304961A>G | CA342074567 | FLG | c.9925T>C (p.Ser3309Pro) c.9108+817T>C (n.9108+817T>C) | gnomAD v4 |
1 | g.152304961A>T | CA342074574 | FLG | c.9925T>A (p.Ser3309Thr) c.9108+817T>A (n.9108+817T>A) | |
1 | g.152304962C>A | CA342074589 | FLG | c.9924G>T (p.Gln3308His) c.9108+816G>T (n.9108+816G>T) | gnomAD v4 |
1 | g.152304962C>G | CA342074590 | FLG | c.9924G>C (p.Gln3308His) c.9108+816G>C (n.9108+816G>C) | |
1 | g.152304962C>T | CA420926764 | FLG | c.9924G>A (p.Gln3308=) c.9108+816G>A (n.9108+816G>A) | |
1 | g.152304963T>A | CA1103620 | FLG | c.9923A>T (p.Gln3308Leu) c.9108+815A>T (n.9108+815A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304963T>C | CA342074597 | FLG | c.9923A>G (p.Gln3308Arg) c.9108+815A>G (n.9108+815A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304963T>G | CA342074600 | FLG | c.9923A>C (p.Gln3308Pro) c.9108+815A>C (n.9108+815A>C) | gnomAD v4 |
1 | g.152304963T= | CA1141894834 | FLG | c.9923A= (p.Gln3308=) c.9108+815A= (n.9108+815A=) | |
1 | g.152304964G>A | CA342074603 | FLG | c.9922C>T (p.Gln3308Ter) c.9108+814C>T (n.9108+814C>T) | |
1 | g.152304964G>C | CA1103621 | FLG | c.9922C>G (p.Gln3308Glu) c.9108+814C>G (n.9108+814C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304964G= | CA1148463973 | FLG | c.9922C= (p.Gln3308=) c.9108+814C= (n.9108+814C=) | |
1 | g.152304964G>T | CA342074608 | FLG | c.9922C>A (p.Gln3308Lys) c.9108+814C>A (n.9108+814C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304964_152304965insGAG | CA2581934940 | FLG | c.9922_9923insTCC (p.Gln3307_Gln3308insLeu) c.9108+814_9108+815insTCC (n.9108+814_9108+815insTCC) | |
1 | g.152304965C>A | CA342074611 | FLG | c.9921G>T (p.Gln3307His) c.9108+813G>T (n.9108+813G>T) | |
1 | g.152304965C= | CA1143742104 | FLG | c.9921G= (p.Gln3307=) c.9108+813G= (n.9108+813G=) | |
1 | g.152304965C>G | CA342074615 | FLG | c.9921G>C (p.Gln3307His) c.9108+813G>C (n.9108+813G>C) | |
1 | g.152304965C>T | CA1103622 | FLG | c.9921G>A (p.Gln3307=) c.9108+813G>A (n.9108+813G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304966T>A | CA342074632 | FLG | c.9920A>T (p.Gln3307Leu) c.9108+812A>T (n.9108+812A>T) | |
1 | g.152304966T>C | CA342074633 | FLG | c.9920A>G (p.Gln3307Arg) c.9108+812A>G (n.9108+812A>G) | dbSNP |
1 | g.152304966T>G | CA342074631 | FLG | c.9920A>C (p.Gln3307Pro) c.9108+812A>C (n.9108+812A>C) | |
1 | g.152304967G>A | CA342074634 | FLG | c.9919C>T (p.Gln3307Ter) c.9108+811C>T (n.9108+811C>T) | dbSNP |
1 | g.152304967G>C | CA342074635 | FLG | c.9919C>G (p.Gln3307Glu) c.9108+811C>G (n.9108+811C>G) | |
1 | g.152304967G= | CA2479947743 | FLG | c.9919C= (p.Gln3307=) c.9108+811C= (n.9108+811C=) | |
1 | g.152304967G>T | CA342074637 | FLG | c.9919C>A (p.Gln3307Lys) c.9108+811C>A (n.9108+811C>A) | COSMIC |
1 | g.152304968G>A | CA420926770 | FLG | c.9918C>T (p.His3306=) c.9108+810C>T (n.9108+810C>T) | gnomAD v4 |
1 | g.152304968G>C | CA342074639 | FLG | c.9918C>G (p.His3306Gln) c.9108+810C>G (n.9108+810C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304968G= | CA2479947744 | FLG | c.9918C= (p.His3306=) c.9108+810C= (n.9108+810C=) | |
1 | g.152304968G>T | CA1103623 | FLG | c.9918C>A (p.His3306Gln) c.9108+810C>A (n.9108+810C>A) | dbSNP ExAC gnomAD v2 |
1 | g.152304969T>A | CA342074653 | FLG | c.9917A>T (p.His3306Leu) c.9108+809A>T (n.9108+809A>T) | |
1 | g.152304969T>C | CA342074649 | FLG | c.9917A>G (p.His3306Arg) c.9108+809A>G (n.9108+809A>G) | |
1 | g.152304969T>G | CA342074646 | FLG | c.9917A>C (p.His3306Pro) c.9108+809A>C (n.9108+809A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304969T= | CA2479947745 | FLG | c.9917A= (p.His3306=) c.9108+809A= (n.9108+809A=) | |
1 | g.152304970G>A | CA342074660 | FLG | c.9916C>T (p.His3306Tyr) c.9108+808C>T (n.9108+808C>T) | |
1 | g.152304970G>C | CA342074670 | FLG | c.9916C>G (p.His3306Asp) c.9108+808C>G (n.9108+808C>G) | |
1 | g.152304970G>T | CA342074674 | FLG | c.9916C>A (p.His3306Asn) c.9108+808C>A (n.9108+808C>A) | |
1 | g.152304971G>A | CA420926773 | FLG | c.9915C>T (p.Arg3305=) c.9108+807C>T (n.9108+807C>T) | |
1 | g.152304971G>C | CA420926775 | FLG | c.9915C>G (p.Arg3305=) c.9108+807C>G (n.9108+807C>G) | |
1 | g.152304971G= | CA2479947746 | FLG | c.9915C= (p.Arg3305=) c.9108+807C= (n.9108+807C=) | |
1 | g.152304971G>T | CA420926777 | FLG | c.9915C>A (p.Arg3305=) c.9108+807C>A (n.9108+807C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304972C>A | CA342074681 | FLG | c.9914G>T (p.Arg3305Leu) c.9108+806G>T (n.9108+806G>T) | |
1 | g.152304972C= | CA1142178946 | FLG | c.9914G= (p.Arg3305=) c.9108+806G= (n.9108+806G=) | |
1 | g.152304972C>G | CA342074683 | FLG | c.9914G>C (p.Arg3305Pro) c.9108+806G>C (n.9108+806G>C) | |
1 | g.152304972C>T | CA1103624 | FLG | c.9914G>A (p.Arg3305His) c.9108+806G>A (n.9108+806G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304973G>A | CA342074688 | FLG | c.9913C>T (p.Arg3305Cys) c.9108+805C>T (n.9108+805C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304973G>C | CA342074694 | FLG | c.9913C>G (p.Arg3305Gly) c.9108+805C>G (n.9108+805C>G) | gnomAD v4 |
1 | g.152304973G= | CA2479947747 | FLG | c.9913C= (p.Arg3305=) c.9108+805C= (n.9108+805C=) | |
1 | g.152304973G>T | CA342074691 | FLG | c.9913C>A (p.Arg3305Ser) c.9108+805C>A (n.9108+805C>A) | COSMIC |
1 | g.152304974G>A | CA420926779 | FLG | c.9912C>T (p.Ser3304=) c.9108+804C>T (n.9108+804C>T) | |
1 | g.152304974G>C | CA420926780 | FLG | c.9912C>G (p.Ser3304=) c.9108+804C>G (n.9108+804C>G) | |
1 | g.152304974G>T | CA420926781 | FLG | c.9912C>A (p.Ser3304=) c.9108+804C>A (n.9108+804C>A) | COSMIC |
1 | g.152304975G>A | CA1103625 | FLG | c.9911C>T (p.Ser3304Phe) c.9108+803C>T (n.9108+803C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304975G>C | CA342074702 | FLG | c.9911C>G (p.Ser3304Cys) c.9108+803C>G (n.9108+803C>G) | |
1 | g.152304975G= | CA2479947748 | FLG | c.9911C= (p.Ser3304=) c.9108+803C= (n.9108+803C=) | |
1 | g.152304975G>T | CA342074705 | FLG | c.9911C>A (p.Ser3304Tyr) c.9108+803C>A (n.9108+803C>A) | |
1 | g.152304975_152304976delinsGA | CA2479947749 | FLG | c.9910_9911delinsTC (p.Ser3304=) c.9108+802_9108+803delinsTC (n.9108+802_9108+803delinsTC) | |
1 | g.152304976del | CA526662125 | FLG | c.9910del (p.Ser3304ProfsTer?) c.9108+802del (n.9108+802del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304976A= | CA2479947750 | FLG | c.9910T= (p.Ser3304=) c.9108+802T= (n.9108+802T=) | |
1 | g.152304976A>C | CA342074706 | FLG | c.9910T>G (p.Ser3304Ala) c.9108+802T>G (n.9108+802T>G) | |
1 | g.152304976A>G | CA342074708 | FLG | c.9910T>C (p.Ser3304Pro) c.9108+802T>C (n.9108+802T>C) | dbSNP |
1 | g.152304976A>T | CA342074710 | FLG | c.9910T>A (p.Ser3304Thr) c.9108+802T>A (n.9108+802T>A) | |
1 | g.152304977T>A | CA420926783 | FLG | c.9909A>T (p.Gly3303=) c.9108+801A>T (n.9108+801A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304977T>C | CA420926785 | FLG | c.9909A>G (p.Gly3303=) c.9108+801A>G (n.9108+801A>G) | |
1 | g.152304977T>G | CA420926787 | FLG | c.9909A>C (p.Gly3303=) c.9108+801A>C (n.9108+801A>C) | |
1 | g.152304977T= | CA2479947751 | FLG | c.9909A= (p.Gly3303=) c.9108+801A= (n.9108+801A=) | |
1 | g.152304977_152304978delinsTC | CA2479947752 | FLG | c.9908_9909delinsGA (p.Gly3303=) c.9108+800_9108+801delinsGA (n.9108+800_9108+801delinsGA) | |
1 | g.152304978C>A | CA342074712 | FLG | c.9908G>T (p.Gly3303Val) c.9108+800G>T (n.9108+800G>T) | |
1 | g.152304978C>G | CA342074714 | FLG | c.9908G>C (p.Gly3303Ala) c.9108+800G>C (n.9108+800G>C) | |
1 | g.152304978C>T | CA342074716 | FLG | c.9908G>A (p.Gly3303Glu) c.9108+800G>A (n.9108+800G>A) | gnomAD v4 COSMIC |
1 | g.152304979del | CA2479947753 | FLG | c.9908del (p.Gly3303AspfsTer?) c.9108+800del (n.9108+800del) | dbSNP |
1 | g.152304979C>A | CA342074718 | FLG | c.9907G>T (p.Gly3303Ter) c.9108+799G>T (n.9108+799G>T) | |
1 | g.152304979C= | CA2479947754 | FLG | c.9907G= (p.Gly3303=) c.9108+799G= (n.9108+799G=) | |
1 | g.152304979C>G | CA342074720 | FLG | c.9907G>C (p.Gly3303Arg) c.9108+799G>C (n.9108+799G>C) | gnomAD v4 |
1 | g.152304979C>T | CA1103626 | FLG | c.9907G>A (p.Gly3303Arg) c.9108+799G>A (n.9108+799G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304980G>A | CA1103627 | FLG | c.9906C>T (p.His3302=) c.9108+798C>T (n.9108+798C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304980G>C | CA342074723 | FLG | c.9906C>G (p.His3302Gln) c.9108+798C>G (n.9108+798C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304980G= | CA1142050982 | FLG | c.9906C= (p.His3302=) c.9108+798C= (n.9108+798C=) | |
1 | g.152304980G>T | CA342074726 | FLG | c.9906C>A (p.His3302Gln) c.9108+798C>A (n.9108+798C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304981T>A | CA30602741 | FLG | c.9905A>T (p.His3302Leu) c.9108+797A>T (n.9108+797A>T) | ClinVar dbSNP gnomAD v4 |
1 | g.152304981T>C | CA342074739 | FLG | c.9905A>G (p.His3302Arg) c.9108+797A>G (n.9108+797A>G) | |
1 | g.152304981T>G | CA342074736 | FLG | c.9905A>C (p.His3302Pro) c.9108+797A>C (n.9108+797A>C) | |
1 | g.152304981T= | CA2479947755 | FLG | c.9905A= (p.His3302=) c.9108+797A= (n.9108+797A=) | |
1 | g.152304982G>A | CA342074749 | FLG | c.9904C>T (p.His3302Tyr) c.9108+796C>T (n.9108+796C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304982G>C | CA342074751 | FLG | c.9904C>G (p.His3302Asp) c.9108+796C>G (n.9108+796C>G) | |
1 | g.152304982G= | CA2479947756 | FLG | c.9904C= (p.His3302=) c.9108+796C= (n.9108+796C=) | |
1 | g.152304982G>T | CA342074755 | FLG | c.9904C>A (p.His3302Asn) c.9108+796C>A (n.9108+796C>A) | |
1 | g.152304983T>A | CA342074758 | FLG | c.9903A>T (p.Arg3301Ser) c.9108+795A>T (n.9108+795A>T) | |
1 | g.152304983T>C | CA420926794 | FLG | c.9903A>G (p.Arg3301=) c.9108+795A>G (n.9108+795A>G) | |
1 | g.152304983T>G | CA342074764 | FLG | c.9903A>C (p.Arg3301Ser) c.9108+795A>C (n.9108+795A>C) | |
1 | g.152304984C>A | CA1103628 | FLG | c.9902G>T (p.Arg3301Ile) c.9108+794G>T (n.9108+794G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304984C= | CA2479947757 | FLG | c.9902G= (p.Arg3301=) c.9108+794G= (n.9108+794G=) | |
1 | g.152304984C>G | CA342074767 | FLG | c.9902G>C (p.Arg3301Thr) c.9108+794G>C (n.9108+794G>C) | |
1 | g.152304984C>T | CA342074769 | FLG | c.9902G>A (p.Arg3301Lys) c.9108+794G>A (n.9108+794G>A) | gnomAD v4 |
1 | g.152304985T>A | CA342074772 | FLG | c.9901A>T (p.Arg3301Ter) c.9108+793A>T (n.9108+793A>T) | ClinVar gnomAD v4 |
1 | g.152304985T>C | CA342074775 | FLG | c.9901A>G (p.Arg3301Gly) c.9108+793A>G (n.9108+793A>G) | gnomAD v4 |
1 | g.152304985T>G | CA420926798 | FLG | c.9901A>C (p.Arg3301=) c.9108+793A>C (n.9108+793A>C) | gnomAD v4 |
1 | g.152304986C>A | CA342074778 | FLG | c.9900G>T (p.Glu3300Asp) c.9108+792G>T (n.9108+792G>T) | |
1 | g.152304986C= | CA1147042453 | FLG | c.9900G= (p.Glu3300=) c.9108+792G= (n.9108+792G=) | |
1 | g.152304986C>G | CA342074781 | FLG | c.9900G>C (p.Glu3300Asp) c.9108+792G>C (n.9108+792G>C) | dbSNP |
1 | g.152304986C>T | CA1103629 | FLG | c.9900G>A (p.Glu3300=) c.9108+792G>A (n.9108+792G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304987T>A | CA342074789 | FLG | c.9899A>T (p.Glu3300Val) c.9108+791A>T (n.9108+791A>T) | |
1 | g.152304987T>C | CA342074787 | FLG | c.9899A>G (p.Glu3300Gly) c.9108+791A>G (n.9108+791A>G) | |
1 | g.152304987T>G | CA342074784 | FLG | c.9899A>C (p.Glu3300Ala) c.9108+791A>C (n.9108+791A>C) | |
1 | g.152304988C>A | CA342074794 | FLG | c.9898G>T (p.Glu3300Ter) c.9108+790G>T (n.9108+790G>T) | |
1 | g.152304988C>G | CA342074797 | FLG | c.9898G>C (p.Glu3300Gln) c.9108+790G>C (n.9108+790G>C) | COSMIC |
1 | g.152304988C>T | CA342074799 | FLG | c.9898G>A (p.Glu3300Lys) c.9108+790G>A (n.9108+790G>A) | |
1 | g.152304989T>A | CA420926804 | FLG | c.9897A>T (p.Gly3299=) c.9108+789A>T (n.9108+789A>T) | |
1 | g.152304989T>C | CA420926805 | FLG | c.9897A>G (p.Gly3299=) c.9108+789A>G (n.9108+789A>G) | |
1 | g.152304989T>G | CA420926808 | FLG | c.9897A>C (p.Gly3299=) c.9108+789A>C (n.9108+789A>C) | |
1 | g.152304990C>A | CA342074803 | FLG | c.9896G>T (p.Gly3299Val) c.9108+788G>T (n.9108+788G>T) | |
1 | g.152304990C= | CA2479947758 | FLG | c.9896G= (p.Gly3299=) c.9108+788G= (n.9108+788G=) | |
1 | g.152304990C>G | CA342074805 | FLG | c.9896G>C (p.Gly3299Ala) c.9108+788G>C (n.9108+788G>C) | dbSNP gnomAD v2 |
1 | g.152304990C>T | CA342074810 | FLG | c.9896G>A (p.Gly3299Glu) c.9108+788G>A (n.9108+788G>A) | |
1 | g.152304991C>A | CA342074815 | FLG | c.9895G>T (p.Gly3299Ter) c.9108+787G>T (n.9108+787G>T) | |
1 | g.152304991C= | CA2479947760 | FLG | c.9895G= (p.Gly3299=) c.9108+787G= (n.9108+787G=) | |
1 | g.152304991C>G | CA342074818 | FLG | c.9895G>C (p.Gly3299Arg) c.9108+787G>C (n.9108+787G>C) | gnomAD v4 |
1 | g.152304991C>T | CA342074821 | FLG | c.9895G>A (p.Gly3299Arg) c.9108+787G>A (n.9108+787G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304991_152304992delinsCT | CA2479947759 | FLG | c.9894_9895delinsAG (p.Pro3298=) c.9108+786_9108+787delinsAG (n.9108+786_9108+787delinsAG) | |
1 | g.152304992del | CA1103630 | FLG | c.9894del (p.Gly3299GlufsTer?) c.9108+786del (n.9108+786del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304992T>A | CA420926814 | FLG | c.9894A>T (p.Pro3298=) c.9108+786A>T (n.9108+786A>T) | |
1 | g.152304992T>C | CA420926813 | FLG | c.9894A>G (p.Pro3298=) c.9108+786A>G (n.9108+786A>G) | |
1 | g.152304992T>G | CA420926816 | FLG | c.9894A>C (p.Pro3298=) c.9108+786A>C (n.9108+786A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304992T= | CA2479947761 | FLG | c.9894A= (p.Pro3298=) c.9108+786A= (n.9108+786A=) | |
1 | g.152304993G>A | CA342074825 | FLG | c.9893C>T (p.Pro3298Leu) c.9108+785C>T (n.9108+785C>T) | COSMIC |
1 | g.152304993G>C | CA342074827 | FLG | c.9893C>G (p.Pro3298Arg) c.9108+785C>G (n.9108+785C>G) | |
1 | g.152304993G>T | CA342074829 | FLG | c.9893C>A (p.Pro3298Gln) c.9108+785C>A (n.9108+785C>A) | COSMIC |
1 | g.152304994G>A | CA342074834 | FLG | c.9892C>T (p.Pro3298Ser) c.9108+784C>T (n.9108+784C>T) | |
1 | g.152304994G>C | CA1103631 | FLG | c.9892C>G (p.Pro3298Ala) c.9108+784C>G (n.9108+784C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304994G= | CA1142076435 | FLG | c.9892C= (p.Pro3298=) c.9108+784C= (n.9108+784C=) | |
1 | g.152304994G>T | CA342074832 | FLG | c.9892C>A (p.Pro3298Thr) c.9108+784C>A (n.9108+784C>A) | |
1 | g.152304995A= | CA2479947763 | FLG | c.9891T= (p.Ser3297=) c.9108+783T= (n.9108+783T=) | |
1 | g.152304995A>C | CA342074838 | FLG | c.9891T>G (p.Ser3297Arg) c.9108+783T>G (n.9108+783T>G) | gnomAD v4 |
1 | g.152304995A>G | CA1103632 | FLG | c.9891T>C (p.Ser3297=) c.9108+783T>C (n.9108+783T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304995A>T | CA342074843 | FLG | c.9891T>A (p.Ser3297Arg) c.9108+783T>A (n.9108+783T>A) | |
1 | g.152304995_152304996delinsAC | CA2479947762 | FLG | c.9890_9891delinsGT (p.Ser3297=) c.9108+782_9108+783delinsGT (n.9108+782_9108+783delinsGT) | |
1 | g.152304996del | CA526662127 | FLG | c.9890del (p.Ser3297IlefsTer?) c.9108+782del (n.9108+782del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304996C>A | CA342074847 | FLG | c.9890G>T (p.Ser3297Ile) c.9108+782G>T (n.9108+782G>T) | dbSNP COSMIC |
1 | g.152304996C= | CA2479947764 | FLG | c.9890G= (p.Ser3297=) c.9108+782G= (n.9108+782G=) | |
1 | g.152304996C>G | CA342074849 | FLG | c.9890G>C (p.Ser3297Thr) c.9108+782G>C (n.9108+782G>C) | |
1 | g.152304996C>T | CA342074851 | FLG | c.9890G>A (p.Ser3297Asn) c.9108+782G>A (n.9108+782G>A) | gnomAD v4 |
1 | g.152304997T>A | CA1103633 | FLG | c.9889A>T (p.Ser3297Cys) c.9108+781A>T (n.9108+781A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304997T>C | CA342074856 | FLG | c.9889A>G (p.Ser3297Gly) c.9108+781A>G (n.9108+781A>G) | |
1 | g.152304997T>G | CA342074864 | FLG | c.9889A>C (p.Ser3297Arg) c.9108+781A>C (n.9108+781A>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304997T= | CA1144051049 | FLG | c.9889A= (p.Ser3297=) c.9108+781A= (n.9108+781A=) | |
1 | g.152304998T>A | CA420926825 | FLG | c.9888A>T (p.Ser3296=) c.9108+780A>T (n.9108+780A>T) | |
1 | g.152304998T>C | CA420926827 | FLG | c.9888A>G (p.Ser3296=) c.9108+780A>G (n.9108+780A>G) | |
1 | g.152304998T>G | CA420926828 | FLG | c.9888A>C (p.Ser3296=) c.9108+780A>C (n.9108+780A>C) | |
1 | g.152304999G>A | CA342074868 | FLG | c.9887C>T (p.Ser3296Leu) c.9108+779C>T (n.9108+779C>T) | |
1 | g.152304999G>C | CA342074872 | FLG | c.9887C>G (p.Ser3296Ter) c.9108+779C>G (n.9108+779C>G) | gnomAD v4 |
1 | g.152304999G= | CA2479947765 | FLG | c.9887C= (p.Ser3296=) c.9108+779C= (n.9108+779C=) | |
1 | g.152304999G>T | CA1103634 | FLG | c.9887C>A (p.Ser3296Ter) c.9108+779C>A (n.9108+779C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305000A= | CA2479947766 | FLG | c.9886T= (p.Ser3296=) c.9108+778T= (n.9108+778T=) | |
1 | g.152305000A>C | CA342074885 | FLG | c.9886T>G (p.Ser3296Ala) c.9108+778T>G (n.9108+778T>G) | COSMIC |
1 | g.152305000A>G | CA342074877 | FLG | c.9886T>C (p.Ser3296Pro) c.9108+778T>C (n.9108+778T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305000A>T | CA342074880 | FLG | c.9886T>A (p.Ser3296Thr) c.9108+778T>A (n.9108+778T>A) | |
1 | g.152305001T>A | CA342074893 | FLG | c.9885A>T (p.Arg3295Ser) c.9108+777A>T (n.9108+777A>T) | |
1 | g.152305001T>C | CA420926833 | FLG | c.9885A>G (p.Arg3295=) c.9108+777A>G (n.9108+777A>G) | gnomAD v4 |
1 | g.152305001T>G | CA342074894 | FLG | c.9885A>C (p.Arg3295Ser) c.9108+777A>C (n.9108+777A>C) | |
1 | g.152305002C>A | CA342074901 | FLG | c.9884G>T (p.Arg3295Ile) c.9108+776G>T (n.9108+776G>T) | gnomAD v4 |
1 | g.152305002C= | CA2479947767 | FLG | c.9884G= (p.Arg3295=) c.9108+776G= (n.9108+776G=) | |
1 | g.152305002C>G | CA342074903 | FLG | c.9884G>C (p.Arg3295Thr) c.9108+776G>C (n.9108+776G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305002C>T | CA342074905 | FLG | c.9884G>A (p.Arg3295Lys) c.9108+776G>A (n.9108+776G>A) | |
1 | g.152305003T>A | CA342074909 | FLG | c.9883A>T (p.Arg3295Ter) c.9108+775A>T (n.9108+775A>T) | dbSNP |
1 | g.152305003T>C | CA342074910 | FLG | c.9883A>G (p.Arg3295Gly) c.9108+775A>G (n.9108+775A>G) | gnomAD v4 |
1 | g.152305003T>G | CA1103635 | FLG | c.9883A>C (p.Arg3295=) c.9108+775A>C (n.9108+775A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305003T= | CA2479947768 | FLG | c.9883A= (p.Arg3295=) c.9108+775A= (n.9108+775A=) | |
1 | g.152305004T>A | CA420926838 | FLG | c.9882A>T (p.Ala3294=) c.9108+774A>T (n.9108+774A>T) | |
1 | g.152305004T>C | CA420926839 | FLG | c.9882A>G (p.Ala3294=) c.9108+774A>G (n.9108+774A>G) | |
1 | g.152305004T>G | CA420926840 | FLG | c.9882A>C (p.Ala3294=) c.9108+774A>C (n.9108+774A>C) | dbSNP gnomAD v4 |
1 | g.152305004T= | CA2479947769 | FLG | c.9882A= (p.Ala3294=) c.9108+774A= (n.9108+774A=) | |
1 | g.152305005G>A | CA1103636 | FLG | c.9881C>T (p.Ala3294Val) c.9108+773C>T (n.9108+773C>T) | dbSNP ExAC gnomAD v2 |
1 | g.152305005G>C | CA342074933 | FLG | c.9881C>G (p.Ala3294Gly) c.9108+773C>G (n.9108+773C>G) | dbSNP gnomAD v4 |
1 | g.152305005G= | CA2479947770 | FLG | c.9881C= (p.Ala3294=) c.9108+773C= (n.9108+773C=) | |
1 | g.152305005G>T | CA342074935 | FLG | c.9881C>A (p.Ala3294Glu) c.9108+773C>A (n.9108+773C>A) | gnomAD v4 |
1 | g.152305006C>A | CA342074946 | FLG | c.9880G>T (p.Ala3294Ser) c.9108+772G>T (n.9108+772G>T) | |
1 | g.152305006C= | CA2479947771 | FLG | c.9880G= (p.Ala3294=) c.9108+772G= (n.9108+772G=) | |
1 | g.152305006C>G | CA1103637 | FLG | c.9880G>C (p.Ala3294Pro) c.9108+772G>C (n.9108+772G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152305006C>T | CA342074937 | FLG | c.9880G>A (p.Ala3294Thr) c.9108+772G>A (n.9108+772G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305007C>A | CA342074955 | FLG | c.9879G>T (p.Gln3293His) c.9108+771G>T (n.9108+771G>T) | |
1 | g.152305007C>G | CA342074952 | FLG | c.9879G>C (p.Gln3293His) c.9108+771G>C (n.9108+771G>C) | |
1 | g.152305007C>T | CA420926845 | FLG | c.9879G>A (p.Gln3293=) c.9108+771G>A (n.9108+771G>A) | |
1 | g.152305008T>A | CA342074960 | FLG | c.9878A>T (p.Gln3293Leu) c.9108+770A>T (n.9108+770A>T) | |
1 | g.152305008T>C | CA342074966 | FLG | c.9878A>G (p.Gln3293Arg) c.9108+770A>G (n.9108+770A>G) | |
1 | g.152305008T>G | CA342074968 | FLG | c.9878A>C (p.Gln3293Pro) c.9108+770A>C (n.9108+770A>C) | |
1 | g.152305009G>A | CA342074971 | FLG | c.9877C>T (p.Gln3293Ter) c.9108+769C>T (n.9108+769C>T) | |
1 | g.152305009G>C | CA342074973 | FLG | c.9877C>G (p.Gln3293Glu) c.9108+769C>G (n.9108+769C>G) | COSMIC |
1 | g.152305009G>T | CA342074975 | FLG | c.9877C>A (p.Gln3293Lys) c.9108+769C>A (n.9108+769C>A) | |
1 | g.152305010T>A | CA342074978 | FLG | c.9876A>T (p.Glu3292Asp) c.9108+768A>T (n.9108+768A>T) | |
1 | g.152305010T>C | CA420926847 | FLG | c.9876A>G (p.Glu3292=) c.9108+768A>G (n.9108+768A>G) | dbSNP |
1 | g.152305010T>G | CA342074981 | FLG | c.9876A>C (p.Glu3292Asp) c.9108+768A>C (n.9108+768A>C) | |
1 | g.152305010T= | CA2479947772 | FLG | c.9876A= (p.Glu3292=) c.9108+768A= (n.9108+768A=) | |
1 | g.152305011T>A | CA342074983 | FLG | c.9875A>T (p.Glu3292Val) c.9108+767A>T (n.9108+767A>T) | |
1 | g.152305011T>C | CA1103638 | FLG | c.9875A>G (p.Glu3292Gly) c.9108+767A>G (n.9108+767A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305011T>G | CA342074987 | FLG | c.9875A>C (p.Glu3292Ala) c.9108+767A>C (n.9108+767A>C) | |
1 | g.152305011T= | CA1142128967 | FLG | c.9875A= (p.Glu3292=) c.9108+767A= (n.9108+767A=) | |
1 | g.152305012C>A | CA1103639 | FLG | c.9874G>T (p.Glu3292Ter) c.9108+766G>T (n.9108+766G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152305012C= | CA2479947773 | FLG | c.9874G= (p.Glu3292=) c.9108+766G= (n.9108+766G=) | |
1 | g.152305012C>G | CA342074989 | FLG | c.9874G>C (p.Glu3292Gln) c.9108+766G>C (n.9108+766G>C) | |
1 | g.152305012C>T | CA342074990 | FLG | c.9874G>A (p.Glu3292Lys) c.9108+766G>A (n.9108+766G>A) | |
1 | g.152305013A= | CA2479947774 | FLG | c.9873T= (p.His3291=) c.9108+765T= (n.9108+765T=) | |
1 | g.152305013A>C | CA342074991 | FLG | c.9873T>G (p.His3291Gln) c.9108+765T>G (n.9108+765T>G) | gnomAD v4 COSMIC |
1 | g.152305013A>G | CA420926853 | FLG | c.9873T>C (p.His3291=) c.9108+765T>C (n.9108+765T>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152305013A>T | CA342074992 | FLG | c.9873T>A (p.His3291Gln) c.9108+765T>A (n.9108+765T>A) | |
1 | g.152305014T>A | CA342074994 | FLG | c.9872A>T (p.His3291Leu) c.9108+764A>T (n.9108+764A>T) | |
1 | g.152305014T>C | CA342074996 | FLG | c.9872A>G (p.His3291Arg) c.9108+764A>G (n.9108+764A>G) | dbSNP |
1 | g.152305014T>G | CA342074997 | FLG | c.9872A>C (p.His3291Pro) c.9108+764A>C (n.9108+764A>C) | |
1 | g.152305014T= | CA2479947775 | FLG | c.9872A= (p.His3291=) c.9108+764A= (n.9108+764A=) | |
1 | g.152305015G>A | CA342075000 | FLG | c.9871C>T (p.His3291Tyr) c.9108+763C>T (n.9108+763C>T) | gnomAD v4 |
1 | g.152305015G>C | CA342075006 | FLG | c.9871C>G (p.His3291Asp) c.9108+763C>G (n.9108+763C>G) | |
1 | g.152305015G>T | CA342075009 | FLG | c.9871C>A (p.His3291Asn) c.9108+763C>A (n.9108+763C>A) | gnomAD v4 |
1 | g.152305016G>A | CA1103640 | FLG | c.9870C>T (p.Ser3290=) c.9108+762C>T (n.9108+762C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152305016G>C | CA420926862 | FLG | c.9870C>G (p.Ser3290=) c.9108+762C>G (n.9108+762C>G) | |
1 | g.152305016G= | CA2479947776 | FLG | c.9870C= (p.Ser3290=) c.9108+762C= (n.9108+762C=) | |
1 | g.152305016G>T | CA420926864 | FLG | c.9870C>A (p.Ser3290=) c.9108+762C>A (n.9108+762C>A) | |
1 | g.152305017G>A | CA1103641 | FLG | c.9869C>T (p.Ser3290Phe) c.9108+761C>T (n.9108+761C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305017G>C | CA342075014 | FLG | c.9869C>G (p.Ser3290Cys) c.9108+761C>G (n.9108+761C>G) | |
1 | g.152305017G= | CA2479947777 | FLG | c.9869C= (p.Ser3290=) c.9108+761C= (n.9108+761C=) | |
1 | g.152305017G>T | CA342075018 | FLG | c.9869C>A (p.Ser3290Tyr) c.9108+761C>A (n.9108+761C>A) | COSMIC |
1 | g.152305018A>C | CA342075023 | FLG | c.9868T>G (p.Ser3290Ala) c.9108+760T>G (n.9108+760T>G) | |
1 | g.152305018A>G | CA342075026 | FLG | c.9868T>C (p.Ser3290Pro) c.9108+760T>C (n.9108+760T>C) | gnomAD v4 |
1 | g.152305018A>T | CA342075029 | FLG | c.9868T>A (p.Ser3290Thr) c.9108+760T>A (n.9108+760T>A) | |
1 | g.152305019T>A | CA420926870 | FLG | c.9867A>T (p.Ser3289=) c.9108+759A>T (n.9108+759A>T) | |
1 | g.152305019T>C | CA420926871 | FLG | c.9867A>G (p.Ser3289=) c.9108+759A>G (n.9108+759A>G) | dbSNP |
1 | g.152305019T>G | CA420926872 | FLG | c.9867A>C (p.Ser3289=) c.9108+759A>C (n.9108+759A>C) | |
1 | g.152305019T= | CA2479947778 | FLG | c.9867A= (p.Ser3289=) c.9108+759A= (n.9108+759A=) | |
1 | g.152305020G>A | CA342075039 | FLG | c.9866C>T (p.Ser3289Leu) c.9108+758C>T (n.9108+758C>T) | gnomAD v4 |
1 | g.152305020G>C | CA342075043 | FLG | c.9866C>G (p.Ser3289Ter) c.9108+758C>G (n.9108+758C>G) | dbSNP |
1 | g.152305020G= | CA2479947779 | FLG | c.9866C= (p.Ser3289=) c.9108+758C= (n.9108+758C=) | |
1 | g.152305020G>T | CA342075042 | FLG | c.9866C>A (p.Ser3289Ter) c.9108+758C>A (n.9108+758C>A) | |
1 | g.152305021A= | CA2479947780 | FLG | c.9865T= (p.Ser3289=) c.9108+757T= (n.9108+757T=) | |
1 | g.152305021A>C | CA342075046 | FLG | c.9865T>G (p.Ser3289Ala) c.9108+757T>G (n.9108+757T>G) | |
1 | g.152305021A>G | CA342075049 | FLG | c.9865T>C (p.Ser3289Pro) c.9108+757T>C (n.9108+757T>C) | |
1 | g.152305021A>T | CA1103642 | FLG | c.9865T>A (p.Ser3289Thr) c.9108+757T>A (n.9108+757T>A) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.152305022T>A | CA420926874 | FLG | c.9864A>T (p.Ala3288=) c.9108+756A>T (n.9108+756A>T) | |
1 | g.152305022T>C | CA1103643 | FLG | c.9864A>G (p.Ala3288=) c.9108+756A>G (n.9108+756A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152305022T>G | CA420926876 | FLG | c.9864A>C (p.Ala3288=) c.9108+756A>C (n.9108+756A>C) | |
1 | g.152305022T= | CA1143360257 | FLG | c.9864A= (p.Ala3288=) c.9108+756A= (n.9108+756A=) | |
1 | g.152305023G>A | CA342075057 | FLG | c.9863C>T (p.Ala3288Val) c.9108+755C>T (n.9108+755C>T) | |
1 | g.152305023G>C | CA342075059 | FLG | c.9863C>G (p.Ala3288Gly) c.9108+755C>G (n.9108+755C>G) | |
1 | g.152305023G>T | CA342075061 | FLG | c.9863C>A (p.Ala3288Glu) c.9108+755C>A (n.9108+755C>A) | |
1 | g.152305024C>A | CA342075064 | FLG | c.9862G>T (p.Ala3288Ser) c.9108+754G>T (n.9108+754G>T) | gnomAD v4 |
1 | g.152305024C>G | CA342075068 | FLG | c.9862G>C (p.Ala3288Pro) c.9108+754G>C (n.9108+754G>C) | |
1 | g.152305024C>T | CA342075074 | FLG | c.9862G>A (p.Ala3288Thr) c.9108+754G>A (n.9108+754G>A) | |
1 | g.152305025A= | CA2479947781 | FLG | c.9861T= (p.Ala3287=) c.9108+753T= (n.9108+753T=) | |
1 | g.152305025A>C | CA420926981 | FLG | c.9861T>G (p.Ala3287=) c.9108+753T>G (n.9108+753T>G) | |
1 | g.152305025A>G | CA420926982 | FLG | c.9861T>C (p.Ala3287=) c.9108+753T>C (n.9108+753T>C) | |
1 | g.152305025A>T | CA420926983 | FLG | c.9861T>A (p.Ala3287=) c.9108+753T>A (n.9108+753T>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152305026G>A | CA1103644 | FLG | c.9860C>T (p.Ala3287Val) c.9108+752C>T (n.9108+752C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152305026G>C | CA342075080 | FLG | c.9860C>G (p.Ala3287Gly) c.9108+752C>G (n.9108+752C>G) | |
1 | g.152305026G= | CA2479947782 | FLG | c.9860C= (p.Ala3287=) c.9108+752C= (n.9108+752C=) | |
1 | g.152305026G>T | CA342075083 | FLG | c.9860C>A (p.Ala3287Asp) c.9108+752C>A (n.9108+752C>A) | |
1 | g.152305027C>A | CA342075092 | FLG | c.9859G>T (p.Ala3287Ser) c.9108+751G>T (n.9108+751G>T) | |
1 | g.152305027C>G | CA342075096 | FLG | c.9859G>C (p.Ala3287Pro) c.9108+751G>C (n.9108+751G>C) | |
1 | g.152305027C>T | CA342075095 | FLG | c.9859G>A (p.Ala3287Thr) c.9108+751G>A (n.9108+751G>A) | COSMIC |
1 | g.152305028C>A | CA342075097 | FLG | c.9858G>T (p.Gln3286His) c.9108+750G>T (n.9108+750G>T) | |
1 | g.152305028C>G | CA342075098 | FLG | c.9858G>C (p.Gln3286His) c.9108+750G>C (n.9108+750G>C) | |
1 | g.152305028C>T | CA420926989 | FLG | c.9858G>A (p.Gln3286=) c.9108+750G>A (n.9108+750G>A) | |
1 | g.152305029T>A | CA342075099 | FLG | c.9857A>T (p.Gln3286Leu) c.9108+749A>T (n.9108+749A>T) | COSMIC |
1 | g.152305029T>C | CA342075100 | FLG | c.9857A>G (p.Gln3286Arg) c.9108+749A>G (n.9108+749A>G) | dbSNP gnomAD v4 |
1 | g.152305029T>G | CA342075103 | FLG | c.9857A>C (p.Gln3286Pro) c.9108+749A>C (n.9108+749A>C) | dbSNP |
1 | g.152305029T= | CA2479947783 | FLG | c.9857A= (p.Gln3286=) c.9108+749A= (n.9108+749A=) | |
1 | g.152305030G>A | CA30602874 | FLG | c.9856C>T (p.Gln3286Ter) c.9108+748C>T (n.9108+748C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152305030G>C | CA342075114 | FLG | c.9856C>G (p.Gln3286Glu) c.9108+748C>G (n.9108+748C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152305030G= | CA2479947784 | FLG | c.9856C= (p.Gln3286=) c.9108+748C= (n.9108+748C=) | |
1 | g.152305030G>T | CA342075118 | FLG | c.9856C>A (p.Gln3286Lys) c.9108+748C>A (n.9108+748C>A) | |
1 | g.152305030_152305031insC | CA2647993568 | FLG | c.9855_9856insG (p.Gln3286AlafsTer7) c.9108+747_9108+748insG (n.9108+747_9108+748insG) | gnomAD v4 |
1 | g.152305031T>A | CA420926993 | FLG | c.9855A>T (p.Gly3285=) c.9108+747A>T (n.9108+747A>T) | |
1 | g.152305031T>C | CA420926994 | FLG | c.9855A>G (p.Gly3285=) c.9108+747A>G (n.9108+747A>G) | gnomAD v4 |
1 | g.152305031T>G | CA420926996 | FLG | c.9855A>C (p.Gly3285=) c.9108+747A>C (n.9108+747A>C) | |
1 | g.152305032C>A | CA1103646 | FLG | c.9854G>T (p.Gly3285Val) c.9108+746G>T (n.9108+746G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152305032C= | CA1149119926 | FLG | c.9854G= (p.Gly3285=) c.9108+746G= (n.9108+746G=) | |
1 | g.152305032C>G | CA342075122 | FLG | c.9854G>C (p.Gly3285Ala) c.9108+746G>C (n.9108+746G>C) | dbSNP gnomAD v4 |
1 | g.152305032C>T | CA1103645 | FLG | c.9854G>A (p.Gly3285Glu) c.9108+746G>A (n.9108+746G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152305032_152305033insGTGGTGGTACCCCTGC | CA2647993569 | FLG | c.9854_9855insCAGGGGTACCACCACG (p.Gln3286ArgfsTer12) c.9108+746_9108+747insCAGGGGTACCACCACG (n.9108+746_9108+747insCAGGGGTACCACCACG) | gnomAD v4 |