1 | g.152312393_152312416delinsGTGCCTGGAGTTGTCTCGTGCCTG | CA1147109305 | FLG | c.2470_2493delinsCAGGCACGAGACAACTCCAGGCAC (p.Gln824=)
| |
1 | g.152312400_152312416dup | CA1107144 | FLG | c.2477_2493dup (p.Ser832GlufsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312412G>A | CA342089421 | FLG | c.2474C>T (p.Ala825Val)
| |
1 | g.152312412G>C | CA342089423 | FLG | c.2474C>G (p.Ala825Gly)
| |
1 | g.152312412G>T | CA342089425 | FLG | c.2474C>A (p.Ala825Glu)
| |
1 | g.152312413C>A | CA342089431 | FLG | c.2473G>T (p.Ala825Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312413C= | CA2479951907 | FLG | c.2473G= (p.Ala825=)
| |
1 | g.152312413C>G | CA342089434 | FLG | c.2473G>C (p.Ala825Pro)
| |
1 | g.152312413C>T | CA342089436 | FLG | c.2473G>A (p.Ala825Thr)
| dbSNP |
1 | g.152312414C>A | CA342089443 | FLG | c.2472G>T (p.Gln824His)
| |
1 | g.152312414C= | CA2479951908 | FLG | c.2472G= (p.Gln824=)
| |
1 | g.152312414C>G | CA342089444 | FLG | c.2472G>C (p.Gln824His)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312414C>T | CA420930648 | FLG | c.2472G>A (p.Gln824=)
| gnomAD v4 |
1 | g.152312415T>A | CA342089448 | FLG | c.2471A>T (p.Gln824Leu)
| |
1 | g.152312415T>C | CA342089451 | FLG | c.2471A>G (p.Gln824Arg)
| gnomAD v4 |
1 | g.152312415T>G | CA342089453 | FLG | c.2471A>C (p.Gln824Pro)
| |
1 | g.152312416G>A | CA342089461 | FLG | c.2470C>T (p.Gln824Ter)
| |
1 | g.152312416G>C | CA342089459 | FLG | c.2470C>G (p.Gln824Glu)
| |
1 | g.152312416G>T | CA342089457 | FLG | c.2470C>A (p.Gln824Lys)
| |
1 | g.152312417C>A | CA1107153 | FLG | c.2469G>T (p.Glu823Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312417C= | CA2479951909 | FLG | c.2469G= (p.Glu823=)
| |
1 | g.152312417C>G | CA342089464 | FLG | c.2469G>C (p.Glu823Asp)
| |
1 | g.152312417C>T | CA420930651 | FLG | c.2469G>A (p.Glu823=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312418T>A | CA342089469 | FLG | c.2468A>T (p.Glu823Val)
| |
1 | g.152312418T>C | CA342089470 | FLG | c.2468A>G (p.Glu823Gly)
| |
1 | g.152312418T>G | CA342089474 | FLG | c.2468A>C (p.Glu823Ala)
| |
1 | g.152312419C>A | CA342089479 | FLG | c.2467G>T (p.Glu823Ter)
| |
1 | g.152312419C= | CA2479951910 | FLG | c.2467G= (p.Glu823=)
| |
1 | g.152312419C>G | CA342089483 | FLG | c.2467G>C (p.Glu823Gln)
| gnomAD v4 |
1 | g.152312419C>T | CA1107154 | FLG | c.2467G>A (p.Glu823Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312420A= | CA2479951911 | FLG | c.2466T= (p.His822=)
| |
1 | g.152312420A>C | CA342089490 | FLG | c.2466T>G (p.His822Gln)
| |
1 | g.152312420A>G | CA1107155 | FLG | c.2466T>C (p.His822=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312420A>T | CA342089499 | FLG | c.2466T>A (p.His822Gln)
| |
1 | g.152312421T>A | CA342089503 | FLG | c.2465A>T (p.His822Leu)
| gnomAD v4 |
1 | g.152312421T>C | CA342089505 | FLG | c.2465A>G (p.His822Arg)
| dbSNP |
1 | g.152312421T>G | CA342089509 | FLG | c.2465A>C (p.His822Pro)
| |
1 | g.152312421T= | CA2479951912 | FLG | c.2465A= (p.His822=)
| |
1 | g.152312422G>A | CA342089517 | FLG | c.2464C>T (p.His822Tyr)
| |
1 | g.152312422G>C | CA342089512 | FLG | c.2464C>G (p.His822Asp)
| |
1 | g.152312422G>T | CA342089515 | FLG | c.2464C>A (p.His822Asn)
| COSMIC |
1 | g.152312423G>A | CA420930653 | FLG | c.2463C>T (p.His821=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312423G>C | CA342089521 | FLG | c.2463C>G (p.His821Gln)
| |
1 | g.152312423G= | CA1145445775 | FLG | c.2463C= (p.His821=)
| |
1 | g.152312423G>T | CA1107156 | FLG | c.2463C>A (p.His821Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312424T>A | CA342089526 | FLG | c.2462A>T (p.His821Leu)
| |
1 | g.152312424T>C | CA1107157 | FLG | c.2462A>G (p.His821Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312424T>G | CA342089531 | FLG | c.2462A>C (p.His821Pro)
| |
1 | g.152312424T= | CA2479951913 | FLG | c.2462A= (p.His821=)
| |
1 | g.152312425G>A | CA342089536 | FLG | c.2461C>T (p.His821Tyr)
| gnomAD v4 |
1 | g.152312425G>C | CA342089541 | FLG | c.2461C>G (p.His821Asp)
| |
1 | g.152312425G>T | CA342089543 | FLG | c.2461C>A (p.His821Asn)
| |
1 | g.152312426G>A | CA1107159 | FLG | c.2460C>T (p.Ser820=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312426G>C | CA1107158 | FLG | c.2460C>G (p.Ser820=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312426G= | CA1141863073 | FLG | c.2460C= (p.Ser820=)
| |
1 | g.152312426G>T | CA420930659 | FLG | c.2460C>A (p.Ser820=)
| gnomAD v4 |
1 | g.152312427G>A | CA342089549 | FLG | c.2459C>T (p.Ser820Phe)
| COSMIC |
1 | g.152312427G>C | CA342089552 | FLG | c.2459C>G (p.Ser820Cys)
| dbSNP gnomAD v4 |
1 | g.152312427G= | CA1141295939 | FLG | c.2459C= (p.Ser820=)
| |
1 | g.152312427G>T | CA1107160 | FLG | c.2459C>A (p.Ser820Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312428A= | CA2479951914 | FLG | c.2458T= (p.Ser820=)
| |
1 | g.152312428A>C | CA342089558 | FLG | c.2458T>G (p.Ser820Ala)
| |
1 | g.152312428A>G | CA342089560 | FLG | c.2458T>C (p.Ser820Pro)
| |
1 | g.152312428A>T | CA342089556 | FLG | c.2458T>A (p.Ser820Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312429T>A | CA1107161 | FLG | c.2457A>T (p.Gly819=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312429T>C | CA420930663 | FLG | c.2457A>G (p.Gly819=)
| |
1 | g.152312429T>G | CA420930661 | FLG | c.2457A>C (p.Gly819=)
| |
1 | g.152312429T= | CA1148238590 | FLG | c.2457A= (p.Gly819=)
| |
1 | g.152312430C>A | CA342089570 | FLG | c.2456G>T (p.Gly819Val)
| |
1 | g.152312430C= | CA2479951915 | FLG | c.2456G= (p.Gly819=)
| |
1 | g.152312430C>G | CA342089567 | FLG | c.2456G>C (p.Gly819Ala)
| dbSNP gnomAD v2 |
1 | g.152312430C>T | CA1107162 | FLG | c.2456G>A (p.Gly819Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312431C>A | CA342089574 | FLG | c.2455G>T (p.Gly819Ter)
| |
1 | g.152312431C>G | CA342089576 | FLG | c.2455G>C (p.Gly819Arg)
| |
1 | g.152312431C>T | CA342089579 | FLG | c.2455G>A (p.Gly819Arg)
| gnomAD v4 |
1 | g.152312432T>A | CA342089581 | FLG | c.2454A>T (p.Gln818His)
| |
1 | g.152312432T>C | CA420930665 | FLG | c.2454A>G (p.Gln818=)
| gnomAD v4 |
1 | g.152312432T>G | CA342089583 | FLG | c.2454A>C (p.Gln818His)
| |
1 | g.152312433T>A | CA342089588 | FLG | c.2453A>T (p.Gln818Leu)
| |
1 | g.152312433T>C | CA342089590 | FLG | c.2453A>G (p.Gln818Arg)
| |
1 | g.152312433T>G | CA342089592 | FLG | c.2453A>C (p.Gln818Pro)
| |
1 | g.152312434G>A | CA342089594 | FLG | c.2452C>T (p.Gln818Ter)
| |
1 | g.152312434G>C | CA1107163 | FLG | c.2452C>G (p.Gln818Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312434G= | CA1142197539 | FLG | c.2452C= (p.Gln818=)
| |
1 | g.152312434G>T | CA342089599 | FLG | c.2452C>A (p.Gln818Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312435T>A | CA342089604 | FLG | c.2451A>T (p.Arg817Ser)
| |
1 | g.152312435T>C | CA420930666 | FLG | c.2451A>G (p.Arg817=)
| |
1 | g.152312435T>G | CA342089601 | FLG | c.2451A>C (p.Arg817Ser)
| |
1 | g.152312436C>A | CA342089608 | FLG | c.2450G>T (p.Arg817Ile)
| |
1 | g.152312436C= | CA2479951916 | FLG | c.2450G= (p.Arg817=)
| |
1 | g.152312436C>G | CA342089610 | FLG | c.2450G>C (p.Arg817Thr)
| |
1 | g.152312436C>T | CA342089614 | FLG | c.2450G>A (p.Arg817Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312437T>A | CA342089618 | FLG | c.2449A>T (p.Arg817Ter)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312437T>C | CA342089621 | FLG | c.2449A>G (p.Arg817Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312437T>G | CA420930667 | FLG | c.2449A>C (p.Arg817=)
| |
1 | g.152312437T= | CA2479951917 | FLG | c.2449A= (p.Arg817=)
| |
1 | g.152312437_152312438insC | CA2647993757 | FLG | c.2448_2449insG (p.Arg817GlufsTer7)
| gnomAD v4 |
1 | g.152312438T>A | CA420930668 | FLG | c.2448A>T (p.Val816=)
| |
1 | g.152312438T>C | CA420930669 | FLG | c.2448A>G (p.Val816=)
| gnomAD v4 |
1 | g.152312438T>G | CA420930670 | FLG | c.2448A>C (p.Val816=)
| |
1 | g.152312439A= | CA1142355424 | FLG | c.2447T= (p.Val816=)
| |
1 | g.152312439A>C | CA1107164 | FLG | c.2447T>G (p.Val816Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312439A>G | CA342089624 | FLG | c.2447T>C (p.Val816Ala)
| |
1 | g.152312439A>T | CA342089625 | FLG | c.2447T>A (p.Val816Glu)
| |
1 | g.152312440C>A | CA342089627 | FLG | c.2446G>T (p.Val816Leu)
| |
1 | g.152312440C= | CA2479951918 | FLG | c.2446G= (p.Val816=)
| |
1 | g.152312440C>G | CA1107166 | FLG | c.2446G>C (p.Val816Leu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312440C>T | CA342089630 | FLG | c.2446G>A (p.Val816Ile)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312441T>A | CA420930674 | FLG | c.2445A>T (p.Gly815=)
| |
1 | g.152312441T>C | CA420930675 | FLG | c.2445A>G (p.Gly815=)
| |
1 | g.152312441T>G | CA420930676 | FLG | c.2445A>C (p.Gly815=)
| |
1 | g.152312441_152312444dup | CA1107165 | FLG | c.2442_2445dup (p.Val816TrpfsTer9)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312442C>A | CA342089633 | FLG | c.2444G>T (p.Gly815Val)
| |
1 | g.152312442C= | CA2479951919 | FLG | c.2444G= (p.Gly815=)
| |
1 | g.152312442C>G | CA342089632 | FLG | c.2444G>C (p.Gly815Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312442C>T | CA342089631 | FLG | c.2444G>A (p.Gly815Glu)
| dbSNP gnomAD v4 |
1 | g.152312443C>A | CA342089634 | FLG | c.2443G>T (p.Gly815Ter)
| |
1 | g.152312443C= | CA1143732995 | FLG | c.2443G= (p.Gly815=)
| |
1 | g.152312443C>G | CA342089636 | FLG | c.2443G>C (p.Gly815Arg)
| |
1 | g.152312443C>T | CA1107167 | FLG | c.2443G>A (p.Gly815Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312444A>C | CA420930680 | FLG | c.2442T>G (p.Thr814=)
| |
1 | g.152312444A>G | CA420930678 | FLG | c.2442T>C (p.Thr814=)
| |
1 | g.152312444A>T | CA420930679 | FLG | c.2442T>A (p.Thr814=)
| gnomAD v4 |
1 | g.152312445G>A | CA1107168 | FLG | c.2441C>T (p.Thr814Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312445G>C | CA342089639 | FLG | c.2441C>G (p.Thr814Ser)
| dbSNP gnomAD v4 |
1 | g.152312445G= | CA2479951920 | FLG | c.2441C= (p.Thr814=)
| |
1 | g.152312445G>T | CA342089640 | FLG | c.2441C>A (p.Thr814Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312447_152312458del | CA2647993758 | FLG | c.2430_2441del (p.Gly811_Thr814del)
| gnomAD v4 |
1 | g.152312446T>A | CA342089645 | FLG | c.2440A>T (p.Thr814Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312446T>C | CA1107169 | FLG | c.2440A>G (p.Thr814Ala)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312446T>G | CA342089644 | FLG | c.2440A>C (p.Thr814Pro)
| gnomAD v4 |
1 | g.152312446T= | CA1144256116 | FLG | c.2440A= (p.Thr814=)
| |
1 | g.152312447G>A | CA420930682 | FLG | c.2439C>T (p.Ser813=)
| |
1 | g.152312447G>C | CA342089649 | FLG | c.2439C>G (p.Ser813Arg)
| dbSNP |
1 | g.152312447G= | CA2479951921 | FLG | c.2439C= (p.Ser813=)
| |
1 | g.152312447G>T | CA342089654 | FLG | c.2439C>A (p.Ser813Arg)
| |
1 | g.152312448C>A | CA342089657 | FLG | c.2438G>T (p.Ser813Ile)
| |
1 | g.152312448C= | CA1143401946 | FLG | c.2438G= (p.Ser813=)
| |
1 | g.152312448C>G | CA1107170 | FLG | c.2438G>C (p.Ser813Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312448C>T | CA30561888 | FLG | c.2438G>A (p.Ser813Asn)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312449T>A | CA342089665 | FLG | c.2437A>T (p.Ser813Cys)
| |
1 | g.152312449T>C | CA342089667 | FLG | c.2437A>G (p.Ser813Gly)
| |
1 | g.152312449T>G | CA342089666 | FLG | c.2437A>C (p.Ser813Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312449T= | CA2479951922 | FLG | c.2437A= (p.Ser813=)
| |
1 | g.152312450G>A | CA420930701 | FLG | c.2436C>T (p.Pro812=)
| gnomAD v4 |
1 | g.152312450G>C | CA420930702 | FLG | c.2436C>G (p.Pro812=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312450G= | CA1141989123 | FLG | c.2436C= (p.Pro812=)
| |
1 | g.152312450G>T | CA1107171 | FLG | c.2436C>A (p.Pro812=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312451G>A | CA342089668 | FLG | c.2435C>T (p.Pro812Leu)
| gnomAD v4 |
1 | g.152312451G>C | CA342089671 | FLG | c.2435C>G (p.Pro812Arg)
| |
1 | g.152312451G= | CA2479951923 | FLG | c.2435C= (p.Pro812=)
| |
1 | g.152312451G>T | CA342089674 | FLG | c.2435C>A (p.Pro812His)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312452G>A | CA342089677 | FLG | c.2434C>T (p.Pro812Ser)
| dbSNP gnomAD v4 |
1 | g.152312452G>C | CA342089680 | FLG | c.2434C>G (p.Pro812Ala)
| |
1 | g.152312452G= | CA1144415790 | FLG | c.2434C= (p.Pro812=)
| |
1 | g.152312452G>T | CA1107172 | FLG | c.2434C>A (p.Pro812Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312453C>A | CA420930703 | FLG | c.2433G>T (p.Gly811=)
| gnomAD v4 COSMIC |
1 | g.152312453C= | CA1145959898 | FLG | c.2433G= (p.Gly811=)
| |
1 | g.152312453C>G | CA420930704 | FLG | c.2433G>C (p.Gly811=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312453C>T | CA1107173 | FLG | c.2433G>A (p.Gly811=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312454C>A | CA1107174 | FLG | c.2432G>T (p.Gly811Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312454C= | CA1144033245 | FLG | c.2432G= (p.Gly811=)
| |
1 | g.152312454C>G | CA1107175 | FLG | c.2432G>C (p.Gly811Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312454C>T | CA1107176 | FLG | c.2432G>A (p.Gly811Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312455C>A | CA342089696 | FLG | c.2431G>T (p.Gly811Trp)
| |
1 | g.152312455C= | CA2479951924 | FLG | c.2431G= (p.Gly811=)
| |
1 | g.152312455C>G | CA342089699 | FLG | c.2431G>C (p.Gly811Arg)
| |
1 | g.152312455C>T | CA342089693 | FLG | c.2431G>A (p.Gly811Arg)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152312456T>A | CA420930705 | FLG | c.2430A>T (p.Thr810=)
| gnomAD v4 |
1 | g.152312456T>C | CA1107178 | FLG | c.2430A>G (p.Thr810=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312456T>G | CA1107177 | FLG | c.2430A>C (p.Thr810=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312456T= | CA1141628153 | FLG | c.2430A= (p.Thr810=)
| |
1 | g.152312457G>A | CA342089705 | FLG | c.2429C>T (p.Thr810Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312457G>C | CA342089713 | FLG | c.2429C>G (p.Thr810Arg)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312457G= | CA2479951925 | FLG | c.2429C= (p.Thr810=)
| |
1 | g.152312457G>T | CA342089709 | FLG | c.2429C>A (p.Thr810Lys)
| |
1 | g.152312458T>A | CA342089726 | FLG | c.2428A>T (p.Thr810Ser)
| |
1 | g.152312458T>C | CA342089729 | FLG | c.2428A>G (p.Thr810Ala)
| COSMIC |
1 | g.152312458T>G | CA342089728 | FLG | c.2428A>C (p.Thr810Pro)
| |
1 | g.152312459C>A | CA342089730 | FLG | c.2427G>T (p.Trp809Cys)
| dbSNP |
1 | g.152312459C= | CA1148241786 | FLG | c.2427G= (p.Trp809=)
| |
1 | g.152312459C>G | CA1107179 | FLG | c.2427G>C (p.Trp809Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312459C>T | CA10602756 | FLG | c.2427G>A (p.Trp809Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312460C>A | CA342089733 | FLG | c.2426G>T (p.Trp809Leu)
| |
1 | g.152312460C>G | CA342089735 | FLG | c.2426G>C (p.Trp809Ser)
| |
1 | g.152312460C>T | CA342089739 | FLG | c.2426G>A (p.Trp809Ter)
| gnomAD v4 |
1 | g.152312461A= | CA2479951926 | FLG | c.2425T= (p.Trp809=)
| |
1 | g.152312461A>C | CA342089747 | FLG | c.2425T>G (p.Trp809Gly)
| |
1 | g.152312461A>G | CA1107180 | FLG | c.2425T>C (p.Trp809Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312461A>T | CA342089748 | FLG | c.2425T>A (p.Trp809Arg)
| dbSNP |
1 | g.152312462T>A | CA420930706 | FLG | c.2424A>T (p.Gly808=)
| |
1 | g.152312462T>C | CA420930707 | FLG | c.2424A>G (p.Gly808=)
| gnomAD v4 |
1 | g.152312462T>G | CA420930708 | FLG | c.2424A>C (p.Gly808=)
| |
1 | g.152312463C>A | CA30561961 | FLG | c.2423G>T (p.Gly808Val)
| dbSNP |
1 | g.152312463C= | CA1143379197 | FLG | c.2423G= (p.Gly808=)
| |
1 | g.152312463C>G | CA342089749 | FLG | c.2423G>C (p.Gly808Ala)
| |
1 | g.152312463C>T | CA342089751 | FLG | c.2423G>A (p.Gly808Glu)
| gnomAD v4 |
1 | g.152312464C>A | CA342089758 | FLG | c.2422G>T (p.Gly808Ter)
| gnomAD v4 |
1 | g.152312464C>G | CA342089753 | FLG | c.2422G>C (p.Gly808Arg)
| |
1 | g.152312464C>T | CA342089755 | FLG | c.2422G>A (p.Gly808Arg)
| gnomAD v4 |
1 | g.152312465A= | CA1142125413 | FLG | c.2421T= (p.His807=)
| |
1 | g.152312465A>C | CA1107182 | FLG | c.2421T>G (p.His807Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312465A>G | CA1107181 | FLG | c.2421T>C (p.His807=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312465A>T | CA342089760 | FLG | c.2421T>A (p.His807Gln)
| |
1 | g.152312466T>A | CA342089765 | FLG | c.2420A>T (p.His807Leu)
| |
1 | g.152312466T>C | CA30561974 | FLG | c.2420A>G (p.His807Arg)
| dbSNP gnomAD v4 |
1 | g.152312466T>G | CA30561977 | FLG | c.2420A>C (p.His807Pro)
| dbSNP |
1 | g.152312466T= | CA1143369728 | FLG | c.2420A= (p.His807=)
| |
1 | g.152312467G>A | CA342089773 | FLG | c.2419C>T (p.His807Tyr)
| dbSNP |
1 | g.152312467G>C | CA342089776 | FLG | c.2419C>G (p.His807Asp)
| gnomAD v4 |
1 | g.152312467G= | CA2479951927 | FLG | c.2419C= (p.His807=)
| |
1 | g.152312467G>T | CA342089779 | FLG | c.2419C>A (p.His807Asn)
| COSMIC |
1 | g.152312468G>A | CA1107183 | FLG | c.2418C>T (p.Ser806=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312468G>C | CA420930709 | FLG | c.2418C>G (p.Ser806=)
| |
1 | g.152312468G= | CA2479951928 | FLG | c.2418C= (p.Ser806=)
| |
1 | g.152312468G>T | CA420930710 | FLG | c.2418C>A (p.Ser806=)
| gnomAD v4 |
1 | g.152312469G>A | CA342089789 | FLG | c.2417C>T (p.Ser806Phe)
| gnomAD v4 COSMIC |
1 | g.152312469G>C | CA342089787 | FLG | c.2417C>G (p.Ser806Cys)
| gnomAD v4 |
1 | g.152312469G>T | CA342089785 | FLG | c.2417C>A (p.Ser806Tyr)
| |
1 | g.152312470A= | CA2479951929 | FLG | c.2416T= (p.Ser806=)
| |
1 | g.152312470A>C | CA342089802 | FLG | c.2416T>G (p.Ser806Ala)
| dbSNP gnomAD v4 |
1 | g.152312470A>G | CA342089804 | FLG | c.2416T>C (p.Ser806Pro)
| gnomAD v4 |
1 | g.152312470A>T | CA342089808 | FLG | c.2416T>A (p.Ser806Thr)
| dbSNP gnomAD v4 |
1 | g.152312471G>A | CA1107184 | FLG | c.2415C>T (p.Ser805=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312471G>C | CA420930712 | FLG | c.2415C>G (p.Ser805=)
| |
1 | g.152312471G= | CA2479951930 | FLG | c.2415C= (p.Ser805=)
| |
1 | g.152312471G>T | CA420930711 | FLG | c.2415C>A (p.Ser805=)
| |
1 | g.152312472G>A | CA1107185 | FLG | c.2414C>T (p.Ser805Phe)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312472G>C | CA342089814 | FLG | c.2414C>G (p.Ser805Cys)
| |
1 | g.152312472G= | CA1140814080 | FLG | c.2414C= (p.Ser805=)
| |
1 | g.152312472G>T | CA1107186 | FLG | c.2414C>A (p.Ser805Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312473A>C | CA342089826 | FLG | c.2413T>G (p.Ser805Ala)
| |
1 | g.152312473A>G | CA342089830 | FLG | c.2413T>C (p.Ser805Pro)
| |
1 | g.152312473A>T | CA342089834 | FLG | c.2413T>A (p.Ser805Thr)
| gnomAD v4 |
1 | g.152312474C>A | CA342089836 | FLG | c.2412G>T (p.Glu804Asp)
| |
1 | g.152312474C>G | CA342089838 | FLG | c.2412G>C (p.Glu804Asp)
| gnomAD v4 |
1 | g.152312474C>T | CA420930713 | FLG | c.2412G>A (p.Glu804=)
| |
1 | g.152312475T>A | CA342089847 | FLG | c.2411A>T (p.Glu804Val)
| |
1 | g.152312475T>C | CA342089841 | FLG | c.2411A>G (p.Glu804Gly)
| |
1 | g.152312475T>G | CA342089844 | FLG | c.2411A>C (p.Glu804Ala)
| |
1 | g.152312476C>A | CA342089851 | FLG | c.2410G>T (p.Glu804Ter)
| COSMIC |
1 | g.152312476C= | CA2479951931 | FLG | c.2410G= (p.Glu804=)
| |
1 | g.152312476C>G | CA342089852 | FLG | c.2410G>C (p.Glu804Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312476C>T | CA342089853 | FLG | c.2410G>A (p.Glu804Lys)
| |
1 | g.152312477A= | CA2479951932 | FLG | c.2409T= (p.Ser803=)
| |
1 | g.152312477A>C | CA420930714 | FLG | c.2409T>G (p.Ser803=)
| |
1 | g.152312477A>G | CA420930716 | FLG | c.2409T>C (p.Ser803=)
| gnomAD v4 |
1 | g.152312477A>T | CA420930715 | FLG | c.2409T>A (p.Ser803=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312478G>A | CA342089855 | FLG | c.2408C>T (p.Ser803Phe)
| |
1 | g.152312478G>C | CA342089860 | FLG | c.2408C>G (p.Ser803Cys)
| dbSNP |
1 | g.152312478G= | CA2479951933 | FLG | c.2408C= (p.Ser803=)
| |
1 | g.152312478G>T | CA342089863 | FLG | c.2408C>A (p.Ser803Tyr)
| |
1 | g.152312479A= | CA1147606268 | FLG | c.2407T= (p.Ser803=)
| |
1 | g.152312479A>C | CA342089868 | FLG | c.2407T>G (p.Ser803Ala)
| |
1 | g.152312479A>G | CA1107187 | FLG | c.2407T>C (p.Ser803Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312479A>T | CA342089872 | FLG | c.2407T>A (p.Ser803Thr)
| |
1 | g.152312480C>A | CA342089878 | FLG | c.2406G>T (p.Gln802His)
| |
1 | g.152312480C>G | CA342089882 | FLG | c.2406G>C (p.Gln802His)
| |
1 | g.152312480C>T | CA420930717 | FLG | c.2406G>A (p.Gln802=)
| gnomAD v4 |
1 | g.152312480_152312484delinsCTGTT | CA2479951934 | FLG | c.2402_2406delinsAACAG (p.Lys801=)
| |
1 | g.152312481T>A | CA342089895 | FLG | c.2405A>T (p.Gln802Leu)
| |
1 | g.152312481T>C | CA342089891 | FLG | c.2405A>G (p.Gln802Arg)
| |
1 | g.152312481T>G | CA342089886 | FLG | c.2405A>C (p.Gln802Pro)
| gnomAD v4 |
1 | g.152312482_152312485del | CA526662265 | FLG | c.2402_2405del (p.Lys801SerfsTer15)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312482G>A | CA342089896 | FLG | c.2404C>T (p.Gln802Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312482G>C | CA342089899 | FLG | c.2404C>G (p.Gln802Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312482G= | CA1142375622 | FLG | c.2404C= (p.Gln802=)
| |
1 | g.152312482G>T | CA1107188 | FLG | c.2404C>A (p.Gln802Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312483T>A | CA342089901 | FLG | c.2403A>T (p.Lys801Asn)
| |
1 | g.152312483T>C | CA420930719 | FLG | c.2403A>G (p.Lys801=)
| |
1 | g.152312483T>G | CA342089903 | FLG | c.2403A>C (p.Lys801Asn)
| |
1 | g.152312484T>A | CA342089908 | FLG | c.2402A>T (p.Lys801Ile)
| |
1 | g.152312484T>C | CA342089910 | FLG | c.2402A>G (p.Lys801Arg)
| |
1 | g.152312484T>G | CA342089912 | FLG | c.2402A>C (p.Lys801Thr)
| |
1 | g.152312485T>A | CA342089913 | FLG | c.2401A>T (p.Lys801Ter)
| |
1 | g.152312485T>C | CA1107189 | FLG | c.2401A>G (p.Lys801Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152312485T>G | CA342089914 | FLG | c.2401A>C (p.Lys801Gln)
| |
1 | g.152312485T= | CA1142180978 | FLG | c.2401A= (p.Lys801=)
| |
1 | g.152312486A= | CA2479951935 | FLG | c.2400T= (p.His800=)
| |
1 | g.152312486A>C | CA342089916 | FLG | c.2400T>G (p.His800Gln)
| |
1 | g.152312486A>G | CA420930723 | FLG | c.2400T>C (p.His800=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312486A>T | CA342089918 | FLG | c.2400T>A (p.His800Gln)
| dbSNP |
1 | g.152312487T>A | CA342089926 | FLG | c.2399A>T (p.His800Leu)
| |
1 | g.152312487T>C | CA342089924 | FLG | c.2399A>G (p.His800Arg)
| |
1 | g.152312487T>G | CA342089921 | FLG | c.2399A>C (p.His800Pro)
| |
1 | g.152312488G>A | CA342089929 | FLG | c.2398C>T (p.His800Tyr)
| |
1 | g.152312488G>C | CA342089933 | FLG | c.2398C>G (p.His800Asp)
| |
1 | g.152312488G>T | CA342089935 | FLG | c.2398C>A (p.His800Asn)
| |
1 | g.152312489A>C | CA420930725 | FLG | c.2397T>G (p.Thr799=)
| gnomAD v4 |
1 | g.152312489A>G | CA420930726 | FLG | c.2397T>C (p.Thr799=)
| |
1 | g.152312489A>T | CA420930727 | FLG | c.2397T>A (p.Thr799=)
| |
1 | g.152312490G>A | CA342089939 | FLG | c.2396C>T (p.Thr799Ile)
| gnomAD v4 |
1 | g.152312490G>C | CA342089942 | FLG | c.2396C>G (p.Thr799Ser)
| |
1 | g.152312490G>T | CA342089945 | FLG | c.2396C>A (p.Thr799Asn)
| gnomAD v4 |
1 | g.152312491T>A | CA342089950 | FLG | c.2395A>T (p.Thr799Ser)
| gnomAD v4 |
1 | g.152312491T>C | CA342089953 | FLG | c.2395A>G (p.Thr799Ala)
| dbSNP |
1 | g.152312491T>G | CA342089957 | FLG | c.2395A>C (p.Thr799Pro)
| |
1 | g.152312491T= | CA2479951937 | FLG | c.2395A= (p.Thr799=)
| |
1 | g.152312491_152312492delinsTG | CA2479951936 | FLG | c.2394_2395delinsCA (p.Ser798=)
| |
1 | g.152312491_152312497delinsTGCTCAC | CA2479951939 | FLG | c.2389_2395delinsGTGAGCA (p.Val797=)
| |
1 | g.152312491_152312507delinsTGCTCACCTGGTAGAGG | CA2479951938 | FLG | c.2379_2395delinsCCTCTACCAGGTGAGCA (p.Phe793=)
| |
1 | g.152312492del | CA1107190 | FLG | c.2394del (p.Ser798ArgfsTer19)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312492G>A | CA420930730 | FLG | c.2394C>T (p.Ser798=)
| |
1 | g.152312492G>C | CA342089958 | FLG | c.2394C>G (p.Ser798Arg)
| |
1 | g.152312492G>T | CA342089959 | FLG | c.2394C>A (p.Ser798Arg)
| |
1 | g.152312492_152312497del | CA889442620 | FLG | c.2389_2394del (p.Val797_Ser798del)
| dbSNP |
1 | g.152312492_152312507delinsCTGAGGA | CA658821143 | FLG | c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln)
| ClinVar dbSNP |
1 | g.152312493C>A | CA30562007 | FLG | c.2393G>T (p.Ser798Ile)
| dbSNP |
1 | g.152312493C= | CA2479951940 | FLG | c.2393G= (p.Ser798=)
| |
1 | g.152312493C>G | CA342089962 | FLG | c.2393G>C (p.Ser798Thr)
| gnomAD v4 |
1 | g.152312493C>T | CA342089961 | FLG | c.2393G>A (p.Ser798Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312494T>A | CA342089965 | FLG | c.2392A>T (p.Ser798Cys)
| |
1 | g.152312494T>C | CA342089972 | FLG | c.2392A>G (p.Ser798Gly)
| gnomAD v4 |
1 | g.152312494T>G | CA342089976 | FLG | c.2392A>C (p.Ser798Arg)
| |
1 | g.152312494_152312503delinsTCACCTGGTA | CA2479951941 | FLG | c.2383_2392delinsTACCAGGTGA (p.Tyr795=)
| |
1 | g.152312495C>A | CA420930732 | FLG | c.2391G>T (p.Val797=)
| |
1 | g.152312495C>G | CA420930733 | FLG | c.2391G>C (p.Val797=)
| |
1 | g.152312495C>T | CA420930734 | FLG | c.2391G>A (p.Val797=)
| gnomAD v4 |
1 | g.152312495_152312503del | CA1107191 | FLG | c.2383_2391del (p.Tyr795_Val797del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312496A>C | CA342089981 | FLG | c.2390T>G (p.Val797Gly)
| |
1 | g.152312496A>G | CA342089982 | FLG | c.2390T>C (p.Val797Ala)
| |
1 | g.152312496A>T | CA342089983 | FLG | c.2390T>A (p.Val797Glu)
| gnomAD v4 |
1 | g.152312497C>A | CA342089984 | FLG | c.2389G>T (p.Val797Leu)
| |
1 | g.152312497C= | CA1143433137 | FLG | c.2389G= (p.Val797=)
| |
1 | g.152312497C>G | CA342089985 | FLG | c.2389G>C (p.Val797Leu)
| |
1 | g.152312497C>T | CA1107192 | FLG | c.2389G>A (p.Val797Met)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312498C>A | CA342089991 | FLG | c.2388G>T (p.Gln796His)
| |
1 | g.152312498C= | CA2479951942 | FLG | c.2388G= (p.Gln796=)
| |
1 | g.152312498C>G | CA1107193 | FLG | c.2388G>C (p.Gln796His)
| dbSNP ExAC gnomAD v4 |
1 | g.152312498C>T | CA420930738 | FLG | c.2388G>A (p.Gln796=)
| |
1 | g.152312499T>A | CA342090001 | FLG | c.2387A>T (p.Gln796Leu)
| |
1 | g.152312499T>C | CA342090003 | FLG | c.2387A>G (p.Gln796Arg)
| |
1 | g.152312499T>G | CA342089997 | FLG | c.2387A>C (p.Gln796Pro)
| |
1 | g.152312499_152312503delinsTGGTA | CA2479951943 | FLG | c.2383_2387delinsTACCA (p.Tyr795=)
| |
1 | g.152312500G>A | CA342090005 | FLG | c.2386C>T (p.Gln796Ter)
| gnomAD v4 |
1 | g.152312500G>C | CA1107194 | FLG | c.2386C>G (p.Gln796Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152312500G= | CA2479951944 | FLG | c.2386C= (p.Gln796=)
| |
1 | g.152312500G>T | CA342090014 | FLG | c.2386C>A (p.Gln796Lys)
| gnomAD v4 |
1 | g.152312501del | CA2647993761 | FLG | c.2386del (p.Gln796ArgfsTer2)
| gnomAD v4 |
1 | g.152312501_152312504del | CA2479951945 | FLG | c.2383_2386del (p.Tyr795ArgfsTer2)
| dbSNP |
1 | g.152312501G>A | CA420930740 | FLG | c.2385C>T (p.Tyr795=)
| COSMIC |
1 | g.152312501G>C | CA342090020 | FLG | c.2385C>G (p.Tyr795Ter)
| |
1 | g.152312501G= | CA2479951946 | FLG | c.2385C= (p.Tyr795=)
| |
1 | g.152312501G>T | CA1107195 | FLG | c.2385C>A (p.Tyr795Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312502T>A | CA342090039 | FLG | c.2384A>T (p.Tyr795Phe)
| |
1 | g.152312502T>C | CA342090027 | FLG | c.2384A>G (p.Tyr795Cys)
| |
1 | g.152312502T>G | CA342090030 | FLG | c.2384A>C (p.Tyr795Ser)
| |
1 | g.152312503A= | CA2479951947 | FLG | c.2383T= (p.Tyr795=)
| |
1 | g.152312503A>C | CA342090043 | FLG | c.2383T>G (p.Tyr795Asp)
| |
1 | g.152312503A>G | CA1107196 | FLG | c.2383T>C (p.Tyr795His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312503A>T | CA342090050 | FLG | c.2383T>A (p.Tyr795Asn)
| |
1 | g.152312504G>A | CA420930742 | FLG | c.2382C>T (p.Leu794=)
| |
1 | g.152312504G>C | CA420930743 | FLG | c.2382C>G (p.Leu794=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152312504G= | CA2479951948 | FLG | c.2382C= (p.Leu794=)
| |
1 | g.152312504G>T | CA420930744 | FLG | c.2382C>A (p.Leu794=)
| gnomAD v4 |
1 | g.152312505A>C | CA342090052 | FLG | c.2381T>G (p.Leu794Arg)
| |
1 | g.152312505A>G | CA342090054 | FLG | c.2381T>C (p.Leu794Pro)
| |
1 | g.152312505A>T | CA342090057 | FLG | c.2381T>A (p.Leu794His)
| |
1 | g.152312506G>A | CA342090066 | FLG | c.2380C>T (p.Leu794Phe)
| gnomAD v4 |
1 | g.152312506G>C | CA342090064 | FLG | c.2380C>G (p.Leu794Val)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312506G= | CA2479951949 | FLG | c.2380C= (p.Leu794=)
| |
1 | g.152312506G>T | CA342090062 | FLG | c.2380C>A (p.Leu794Ile)
| gnomAD v4 COSMIC |
1 | g.152312506_152312507insA | CA30562068 | FLG | c.2379_2380insT (p.Leu794SerfsTer8)
| |
1 | g.152312507G>A | CA1107198 | FLG | c.2379C>T (p.Phe793=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312507G>C | CA342090093 | FLG | c.2379C>G (p.Phe793Leu)
| |
1 | g.152312507G= | CA2479951950 | FLG | c.2379C= (p.Phe793=)
| |
1 | g.152312507G>T | CA342090082 | FLG | c.2379C>A (p.Phe793Leu)
| |
1 | g.152312508A= | CA1149155565 | FLG | c.2378T= (p.Phe793=)
| |
1 | g.152312508A>C | CA342090107 | FLG | c.2378T>G (p.Phe793Cys)
| |
1 | g.152312508A>G | CA1107199 | FLG | c.2378T>C (p.Phe793Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312508A>T | CA342090104 | FLG | c.2378T>A (p.Phe793Tyr)
| |
1 | g.152312510dup | CA1107197 | FLG | c.2378dup (p.Leu794ProfsTer8)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312509A= | CA2479951951 | FLG | c.2377T= (p.Phe793=)
| |
1 | g.152312509A>C | CA342090108 | FLG | c.2377T>G (p.Phe793Val)
| |
1 | g.152312509A>G | CA1107200 | FLG | c.2377T>C (p.Phe793Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312509A>T | CA342090111 | FLG | c.2377T>A (p.Phe793Ile)
| |
1 | g.152312510A= | CA2479951952 | FLG | c.2376T= (p.Ser792=)
| |
1 | g.152312510A>C | CA1107201 | FLG | c.2376T>G (p.Ser792=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312510A>G | CA420930753 | FLG | c.2376T>C (p.Ser792=)
| gnomAD v4 |
1 | g.152312510A>T | CA420930755 | FLG | c.2376T>A (p.Ser792=)
| |
1 | g.152312511G>A | CA30562085 | FLG | c.2375C>T (p.Ser792Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152312511G>C | CA342090123 | FLG | c.2375C>G (p.Ser792Cys)
| gnomAD v4 |
1 | g.152312511G= | CA1141716143 | FLG | c.2375C= (p.Ser792=)
| |
1 | g.152312511G>T | CA342090126 | FLG | c.2375C>A (p.Ser792Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152312512A= | CA2479951953 | FLG | c.2374T= (p.Ser792=)
| |
1 | g.152312512A>C | CA342090129 | FLG | c.2374T>G (p.Ser792Ala)
| |
1 | g.152312512A>G | CA342090131 | FLG | c.2374T>C (p.Ser792Pro)
| |
1 | g.152312512A>T | CA342090137 | FLG | c.2374T>A (p.Ser792Thr)
| dbSNP |