| 1 | g.152307824_152307833delinsTGCAGATGAA | CA2479949339 | FLG | c.7053_7062delinsTTCATCTGCA (p.Ala2351=)
| |
| 1 | g.152307827_152307835del | CA30549207 | FLG | c.7053_7061del (p.Ser2352_Ala2354del)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307832A>C | CA342049384 | FLG | c.7054T>G (p.Ser2352Ala)
| |
| 1 | g.152307832A>G | CA342049385 | FLG | c.7054T>C (p.Ser2352Pro)
| |
| 1 | g.152307832A>T | CA342049386 | FLG | c.7054T>A (p.Ser2352Thr)
| gnomAD v4 |
| 1 | g.152307833A>C | CA420928457 | FLG | c.7053T>G (p.Ala2351=)
| gnomAD v4 |
| 1 | g.152307833A>G | CA420928459 | FLG | c.7053T>C (p.Ala2351=)
| |
| 1 | g.152307833A>T | CA420928460 | FLG | c.7053T>A (p.Ala2351=)
| |
| 1 | g.152307834G>A | CA342049387 | FLG | c.7052C>T (p.Ala2351Val)
| |
| 1 | g.152307834G>C | CA342049389 | FLG | c.7052C>G (p.Ala2351Gly)
| gnomAD v4 |
| 1 | g.152307834G= | CA2479949341 | FLG | c.7052C= (p.Ala2351=)
| |
| 1 | g.152307834G>T | CA342049388 | FLG | c.7052C>A (p.Ala2351Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307835C>A | CA342049390 | FLG | c.7051G>T (p.Ala2351Ser)
| |
| 1 | g.152307835C>G | CA342049391 | FLG | c.7051G>C (p.Ala2351Pro)
| gnomAD v4 |
| 1 | g.152307835C>T | CA342049392 | FLG | c.7051G>A (p.Ala2351Thr)
| |
| 1 | g.152307836T>A | CA342049393 | FLG | c.7050A>T (p.Gln2350His)
| |
| 1 | g.152307836T>C | CA420928464 | FLG | c.7050A>G (p.Gln2350=)
| |
| 1 | g.152307836T>G | CA342049395 | FLG | c.7050A>C (p.Gln2350His)
| |
| 1 | g.152307837T>A | CA342049396 | FLG | c.7049A>T (p.Gln2350Leu)
| |
| 1 | g.152307837T>C | CA342049397 | FLG | c.7049A>G (p.Gln2350Arg)
| |
| 1 | g.152307837T>G | CA342049398 | FLG | c.7049A>C (p.Gln2350Pro)
| |
| 1 | g.152307838_152307839del | CA2647993488 | FLG | c.7048_7049del (p.Gln2350SerfsTer16)
| gnomAD v4 |
| 1 | g.152307838G>A | CA1104918 | FLG | c.7048C>T (p.Gln2350Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307838G>C | CA342049399 | FLG | c.7048C>G (p.Gln2350Glu)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307838G= | CA2479949342 | FLG | c.7048C= (p.Gln2350=)
| |
| 1 | g.152307838G>T | CA342049400 | FLG | c.7048C>A (p.Gln2350Lys)
| dbSNP |
| 1 | g.152307839T>A | CA420928469 | FLG | c.7047A>T (p.Gly2349=)
| |
| 1 | g.152307839T>C | CA420928470 | FLG | c.7047A>G (p.Gly2349=)
| dbSNP |
| 1 | g.152307839T>G | CA420928472 | FLG | c.7047A>C (p.Gly2349=)
| |
| 1 | g.152307839T= | CA2479949343 | FLG | c.7047A= (p.Gly2349=)
| |
| 1 | g.152307840C>A | CA342049401 | FLG | c.7046G>T (p.Gly2349Val)
| gnomAD v4 |
| 1 | g.152307840C= | CA2479949345 | FLG | c.7046G= (p.Gly2349=)
| |
| 1 | g.152307840C>G | CA342049403 | FLG | c.7046G>C (p.Gly2349Ala)
| |
| 1 | g.152307840C>T | CA342049402 | FLG | c.7046G>A (p.Gly2349Glu)
| dbSNP gnomAD v4 COSMIC |
| 1 | g.152307840_152307842delinsCCG | CA2479949344 | FLG | c.7044_7046delinsCGG (p.His2348=)
| |
| 1 | g.152307841C>A | CA342049404 | FLG | c.7045G>T (p.Gly2349Ter)
| dbSNP |
| 1 | g.152307841C= | CA2479949346 | FLG | c.7045G= (p.Gly2349=)
| |
| 1 | g.152307841C>G | CA342049406 | FLG | c.7045G>C (p.Gly2349Arg)
| gnomAD v4 |
| 1 | g.152307841C>T | CA342049405 | FLG | c.7045G>A (p.Gly2349Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307841_152307842del | CA526662205 | FLG | c.7044_7045del (p.His2348GlnfsTer18)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307842G>A | CA1104919 | FLG | c.7044C>T (p.His2348=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307842G>C | CA1104920 | FLG | c.7044C>G (p.His2348Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307842G= | CA1142156106 | FLG | c.7044C= (p.His2348=)
| |
| 1 | g.152307842G>T | CA342049407 | FLG | c.7044C>A (p.His2348Gln)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152307843T>A | CA342049408 | FLG | c.7043A>T (p.His2348Leu)
| |
| 1 | g.152307843T>C | CA30549223 | FLG | c.7043A>G (p.His2348Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307843T>G | CA342049409 | FLG | c.7043A>C (p.His2348Pro)
| |
| 1 | g.152307843T= | CA2479949347 | FLG | c.7043A= (p.His2348=)
| |
| 1 | g.152307844G>A | CA342049410 | FLG | c.7042C>T (p.His2348Tyr)
| |
| 1 | g.152307844G>C | CA342049411 | FLG | c.7042C>G (p.His2348Asp)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307844G= | CA2479949348 | FLG | c.7042C= (p.His2348=)
| |
| 1 | g.152307844G>T | CA342049412 | FLG | c.7042C>A (p.His2348Asn)
| |
| 1 | g.152307845C>A | CA420928583 | FLG | c.7041G>T (p.Gly2347=)
| |
| 1 | g.152307845C= | CA2479949349 | FLG | c.7041G= (p.Gly2347=)
| |
| 1 | g.152307845C>G | CA420928581 | FLG | c.7041G>C (p.Gly2347=)
| |
| 1 | g.152307845C>T | CA420928580 | FLG | c.7041G>A (p.Gly2347=)
| dbSNP gnomAD v4 |
| 1 | g.152307845_152307846insAC | CA2647993489 | FLG | c.7041_7042insTG (p.His2348CysfsTer?)
| gnomAD v4 |
| 1 | g.152307846C>A | CA342049413 | FLG | c.7040G>T (p.Gly2347Val)
| |
| 1 | g.152307846C= | CA2479949350 | FLG | c.7040G= (p.Gly2347=)
| |
| 1 | g.152307846C>G | CA30549227 | FLG | c.7040G>C (p.Gly2347Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307846C>T | CA342049414 | FLG | c.7040G>A (p.Gly2347Glu)
| dbSNP gnomAD v4 |
| 1 | g.152307847C>A | CA342049415 | FLG | c.7039G>T (p.Gly2347Trp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307847C= | CA2479949351 | FLG | c.7039G= (p.Gly2347=)
| |
| 1 | g.152307847C>G | CA30549228 | FLG | c.7039G>C (p.Gly2347Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307847C>T | CA342049416 | FLG | c.7039G>A (p.Gly2347Arg)
| |
| 1 | g.152307847_152307848insGG | CA526662206 | FLG | c.7038_7039insCC (p.Gly2347ProfsTer?)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307848A>C | CA342049417 | FLG | c.7038T>G (p.Ile2346Met)
| |
| 1 | g.152307848A>G | CA420928592 | FLG | c.7038T>C (p.Ile2346=)
| gnomAD v4 |
| 1 | g.152307848A>T | CA420928591 | FLG | c.7038T>A (p.Ile2346=)
| |
| 1 | g.152307849A= | CA1141713102 | FLG | c.7037T= (p.Ile2346=)
| |
| 1 | g.152307849A>C | CA342049418 | FLG | c.7037T>G (p.Ile2346Ser)
| |
| 1 | g.152307849A>G | CA1104921 | FLG | c.7037T>C (p.Ile2346Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307849A>T | CA1104922 | FLG | c.7037T>A (p.Ile2346Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307850T>A | CA342049419 | FLG | c.7036A>T (p.Ile2346Phe)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307850T>C | CA342049420 | FLG | c.7036A>G (p.Ile2346Val)
| |
| 1 | g.152307850T>G | CA342049421 | FLG | c.7036A>C (p.Ile2346Leu)
| |
| 1 | g.152307850T= | CA2479949352 | FLG | c.7036A= (p.Ile2346=)
| |
| 1 | g.152307851G>A | CA420928598 | FLG | c.7035C>T (p.Gly2345=)
| gnomAD v4 |
| 1 | g.152307851G>C | CA420928604 | FLG | c.7035C>G (p.Gly2345=)
| |
| 1 | g.152307851G>T | CA420928600 | FLG | c.7035C>A (p.Gly2345=)
| gnomAD v4 |
| 1 | g.152307852C>A | CA342049422 | FLG | c.7034G>T (p.Gly2345Val)
| |
| 1 | g.152307852C= | CA2479949353 | FLG | c.7034G= (p.Gly2345=)
| |
| 1 | g.152307852C>G | CA342049423 | FLG | c.7034G>C (p.Gly2345Ala)
| dbSNP gnomAD v4 |
| 1 | g.152307852C>T | CA342049424 | FLG | c.7034G>A (p.Gly2345Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307853C>A | CA342049426 | FLG | c.7033G>T (p.Gly2345Cys)
| |
| 1 | g.152307853C= | CA2479949354 | FLG | c.7033G= (p.Gly2345=)
| |
| 1 | g.152307853C>G | CA342049427 | FLG | c.7033G>C (p.Gly2345Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307853C>T | CA342049425 | FLG | c.7033G>A (p.Gly2345Ser)
| gnomAD v4 |
| 1 | g.152307854T>A | CA1104923 | FLG | c.7032A>T (p.Ser2344=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307854T>C | CA420928610 | FLG | c.7032A>G (p.Ser2344=)
| gnomAD v4 |
| 1 | g.152307854T>G | CA420928611 | FLG | c.7032A>C (p.Ser2344=)
| |
| 1 | g.152307854T= | CA1143620221 | FLG | c.7032A= (p.Ser2344=)
| |
| 1 | g.152307855G>A | CA342049428 | FLG | c.7031C>T (p.Ser2344Leu)
| gnomAD v4 |
| 1 | g.152307855G>C | CA1104924 | FLG | c.7031C>G (p.Ser2344Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307855G= | CA1143883112 | FLG | c.7031C= (p.Ser2344=)
| |
| 1 | g.152307855G>T | CA342049429 | FLG | c.7031C>A (p.Ser2344Ter)
| gnomAD v4 |
| 1 | g.152307856A= | CA2479949355 | FLG | c.7030T= (p.Ser2344=)
| |
| 1 | g.152307856A>C | CA342049430 | FLG | c.7030T>G (p.Ser2344Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307856A>G | CA342049431 | FLG | c.7030T>C (p.Ser2344Pro)
| |
| 1 | g.152307856A>T | CA1104925 | FLG | c.7030T>A (p.Ser2344Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307857G>A | CA1104926 | FLG | c.7029C>T (p.His2343=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307857G>C | CA342049432 | FLG | c.7029C>G (p.His2343Gln)
| |
| 1 | g.152307857G= | CA2479949356 | FLG | c.7029C= (p.His2343=)
| |
| 1 | g.152307857G>T | CA342049433 | FLG | c.7029C>A (p.His2343Gln)
| |
| 1 | g.152307858T>A | CA342049434 | FLG | c.7028A>T (p.His2343Leu)
| |
| 1 | g.152307858T>C | CA342049435 | FLG | c.7028A>G (p.His2343Arg)
| |
| 1 | g.152307858T>G | CA342049436 | FLG | c.7028A>C (p.His2343Pro)
| |
| 1 | g.152307859G>A | CA342049439 | FLG | c.7027C>T (p.His2343Tyr)
| dbSNP |
| 1 | g.152307859G>C | CA342049438 | FLG | c.7027C>G (p.His2343Asp)
| |
| 1 | g.152307859G= | CA2479949357 | FLG | c.7027C= (p.His2343=)
| |
| 1 | g.152307859G>T | CA342049437 | FLG | c.7027C>A (p.His2343Asn)
| |
| 1 | g.152307860T>A | CA342049440 | FLG | c.7026A>T (p.Arg2342Ser)
| |
| 1 | g.152307860T>C | CA420928628 | FLG | c.7026A>G (p.Arg2342=)
| gnomAD v4 |
| 1 | g.152307860T>G | CA342049441 | FLG | c.7026A>C (p.Arg2342Ser)
| |
| 1 | g.152307861C>A | CA342049442 | FLG | c.7025G>T (p.Arg2342Ile)
| |
| 1 | g.152307861C= | CA1143524871 | FLG | c.7025G= (p.Arg2342=)
| |
| 1 | g.152307861C>G | CA1104927 | FLG | c.7025G>C (p.Arg2342Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307861C>T | CA342049443 | FLG | c.7025G>A (p.Arg2342Lys)
| |
| 1 | g.152307862T>A | CA342049444 | FLG | c.7024A>T (p.Arg2342Ter)
| |
| 1 | g.152307862T>C | CA1104928 | FLG | c.7024A>G (p.Arg2342Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307862T>G | CA420928632 | FLG | c.7024A>C (p.Arg2342=)
| |
| 1 | g.152307862T= | CA2479949358 | FLG | c.7024A= (p.Arg2342=)
| |
| 1 | g.152307862_152307863del | CA2647993493 | FLG | c.7023_7024del (p.Arg2342ThrfsTer24)
| gnomAD v4 |
| 1 | g.152307863G>A | CA420928633 | FLG | c.7023C>T (p.Ser2341=)
| gnomAD v4 |
| 1 | g.152307863G>C | CA420928635 | FLG | c.7023C>G (p.Ser2341=)
| |
| 1 | g.152307863G>T | CA420928637 | FLG | c.7023C>A (p.Ser2341=)
| |
| 1 | g.152307864G>A | CA342049445 | FLG | c.7022C>T (p.Ser2341Phe)
| |
| 1 | g.152307864G>C | CA342049446 | FLG | c.7022C>G (p.Ser2341Cys)
| gnomAD v4 |
| 1 | g.152307864G>T | CA342049447 | FLG | c.7022C>A (p.Ser2341Tyr)
| gnomAD v4 |
| 1 | g.152307865A= | CA2479949359 | FLG | c.7021T= (p.Ser2341=)
| |
| 1 | g.152307865A>C | CA342049448 | FLG | c.7021T>G (p.Ser2341Ala)
| |
| 1 | g.152307865A>G | CA342049449 | FLG | c.7021T>C (p.Ser2341Pro)
| |
| 1 | g.152307865A>T | CA1104929 | FLG | c.7021T>A (p.Ser2341Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307866G>A | CA420928644 | FLG | c.7020C>T (p.Ser2340=)
| gnomAD v4 |
| 1 | g.152307866G>C | CA342049451 | FLG | c.7020C>G (p.Ser2340Arg)
| |
| 1 | g.152307866G>T | CA342049450 | FLG | c.7020C>A (p.Ser2340Arg)
| |
| 1 | g.152307867C>A | CA342049452 | FLG | c.7019G>T (p.Ser2340Ile)
| |
| 1 | g.152307867C= | CA2479949360 | FLG | c.7019G= (p.Ser2340=)
| |
| 1 | g.152307867C>G | CA1104930 | FLG | c.7019G>C (p.Ser2340Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307867C>T | CA342049453 | FLG | c.7019G>A (p.Ser2340Asn)
| gnomAD v4 |
| 1 | g.152307868T>A | CA342049454 | FLG | c.7018A>T (p.Ser2340Cys)
| gnomAD v4 |
| 1 | g.152307868T>C | CA342049456 | FLG | c.7018A>G (p.Ser2340Gly)
| |
| 1 | g.152307868T>G | CA342049455 | FLG | c.7018A>C (p.Ser2340Arg)
| |
| 1 | g.152307869G>A | CA420928657 | FLG | c.7017C>T (p.Asp2339=)
| dbSNP gnomAD v4 |
| 1 | g.152307869G>C | CA1104931 | FLG | c.7017C>G (p.Asp2339Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307869G= | CA2479949361 | FLG | c.7017C= (p.Asp2339=)
| |
| 1 | g.152307869G>T | CA342049457 | FLG | c.7017C>A (p.Asp2339Glu)
| |
| 1 | g.152307870T>A | CA342049458 | FLG | c.7016A>T (p.Asp2339Val)
| |
| 1 | g.152307870T>C | CA342049459 | FLG | c.7016A>G (p.Asp2339Gly)
| |
| 1 | g.152307870T>G | CA342049460 | FLG | c.7016A>C (p.Asp2339Ala)
| |
| 1 | g.152307871C>A | CA342049461 | FLG | c.7015G>T (p.Asp2339Tyr)
| |
| 1 | g.152307871C= | CA1141682345 | FLG | c.7015G= (p.Asp2339=)
| |
| 1 | g.152307871C>G | CA342049462 | FLG | c.7015G>C (p.Asp2339His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307871C>T | CA1104932 | FLG | c.7015G>A (p.Asp2339Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307872T>A | CA420928661 | FLG | c.7014A>T (p.Ala2338=)
| |
| 1 | g.152307872T>C | CA420928662 | FLG | c.7014A>G (p.Ala2338=)
| |
| 1 | g.152307872T>G | CA420928663 | FLG | c.7014A>C (p.Ala2338=)
| |
| 1 | g.152307873G>A | CA342049463 | FLG | c.7013C>T (p.Ala2338Val)
| |
| 1 | g.152307873G>C | CA342049465 | FLG | c.7013C>G (p.Ala2338Gly)
| |
| 1 | g.152307873G= | CA2479949362 | FLG | c.7013C= (p.Ala2338=)
| |
| 1 | g.152307873G>T | CA342049464 | FLG | c.7013C>A (p.Ala2338Glu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152307874C>A | CA342049466 | FLG | c.7012G>T (p.Ala2338Ser)
| gnomAD v4 |
| 1 | g.152307874C>G | CA342049467 | FLG | c.7012G>C (p.Ala2338Pro)
| |
| 1 | g.152307874C>T | CA342049468 | FLG | c.7012G>A (p.Ala2338Thr)
| gnomAD v4 |
| 1 | g.152307875T>A | CA420928668 | FLG | c.7011A>T (p.Ser2337=)
| |
| 1 | g.152307875T>C | CA1104933 | FLG | c.7011A>G (p.Ser2337=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307875T>G | CA1104934 | FLG | c.7011A>C (p.Ser2337=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307875T= | CA2479949363 | FLG | c.7011A= (p.Ser2337=)
| |
| 1 | g.152307876G>A | CA342049469 | FLG | c.7010C>T (p.Ser2337Leu)
| dbSNP COSMIC |
| 1 | g.152307876G>C | CA342049471 | FLG | c.7010C>G (p.Ser2337Ter)
| |
| 1 | g.152307876G= | CA2479949364 | FLG | c.7010C= (p.Ser2337=)
| |
| 1 | g.152307876G>T | CA342049470 | FLG | c.7010C>A (p.Ser2337Ter)
| |
| 1 | g.152307877A>C | CA342049472 | FLG | c.7009T>G (p.Ser2337Ala)
| gnomAD v4 |
| 1 | g.152307877A>G | CA342049473 | FLG | c.7009T>C (p.Ser2337Pro)
| |
| 1 | g.152307877A>T | CA342049474 | FLG | c.7009T>A (p.Ser2337Thr)
| |
| 1 | g.152307878C>A | CA342049475 | FLG | c.7008G>T (p.Gln2336His)
| |
| 1 | g.152307878C= | CA2479949365 | FLG | c.7008G= (p.Gln2336=)
| |
| 1 | g.152307878C>G | CA342049476 | FLG | c.7008G>C (p.Gln2336His)
| dbSNP gnomAD v4 |
| 1 | g.152307878C>T | CA420928681 | FLG | c.7008G>A (p.Gln2336=)
| gnomAD v4 |
| 1 | g.152307879T>A | CA342049477 | FLG | c.7007A>T (p.Gln2336Leu)
| |
| 1 | g.152307879T>C | CA342049478 | FLG | c.7007A>G (p.Gln2336Arg)
| |
| 1 | g.152307879T>G | CA342049479 | FLG | c.7007A>C (p.Gln2336Pro)
| |
| 1 | g.152307880G>A | CA1104935 | FLG | c.7006C>T (p.Gln2336Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307880G>C | CA1104936 | FLG | c.7006C>G (p.Gln2336Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307880G= | CA2479949366 | FLG | c.7006C= (p.Gln2336=)
| |
| 1 | g.152307880G>T | CA342049480 | FLG | c.7006C>A (p.Gln2336Lys)
| |
| 1 | g.152307880_152307881insGAG | CA2647993494 | FLG | c.7006_7007insTCC (p.Gln2335_Gln2336insLeu)
| gnomAD v4 |
| 1 | g.152307881C>A | CA342049481 | FLG | c.7005G>T (p.Gln2335His)
| |
| 1 | g.152307881C= | CA2479949367 | FLG | c.7005G= (p.Gln2335=)
| |
| 1 | g.152307881C>G | CA342049482 | FLG | c.7005G>C (p.Gln2335His)
| dbSNP gnomAD v2 |
| 1 | g.152307881C>T | CA420928685 | FLG | c.7005G>A (p.Gln2335=)
| |
| 1 | g.152307882T>A | CA342049483 | FLG | c.7004A>T (p.Gln2335Leu)
| |
| 1 | g.152307882T>C | CA342049485 | FLG | c.7004A>G (p.Gln2335Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307882T>G | CA342049484 | FLG | c.7004A>C (p.Gln2335Pro)
| |
| 1 | g.152307882T= | CA2479949368 | FLG | c.7004A= (p.Gln2335=)
| |
| 1 | g.152307883G>A | CA342049486 | FLG | c.7003C>T (p.Gln2335Ter)
| |
| 1 | g.152307883G>C | CA342049487 | FLG | c.7003C>G (p.Gln2335Glu)
| |
| 1 | g.152307883G= | CA1148560204 | FLG | c.7003C= (p.Gln2335=)
| |
| 1 | g.152307883G>T | CA1104937 | FLG | c.7003C>A (p.Gln2335Lys)
| dbSNP ExAC gnomAD v4 |
| 1 | g.152307884dup | CA889399807 | FLG | c.7003dup (p.Gln2335ProfsTer?)
| dbSNP |
| 1 | g.152307884G>A | CA420928691 | FLG | c.7002C>T (p.His2334=)
| |
| 1 | g.152307884G>C | CA1104938 | FLG | c.7002C>G (p.His2334Gln)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307884G= | CA2479949369 | FLG | c.7002C= (p.His2334=)
| |
| 1 | g.152307884G>T | CA342049488 | FLG | c.7002C>A (p.His2334Gln)
| gnomAD v4 |
| 1 | g.152307885T>A | CA342049489 | FLG | c.7001A>T (p.His2334Leu)
| |
| 1 | g.152307885T>C | CA342049490 | FLG | c.7001A>G (p.His2334Arg)
| |
| 1 | g.152307885T>G | CA342049491 | FLG | c.7001A>C (p.His2334Pro)
| dbSNP |
| 1 | g.152307885T= | CA2479949370 | FLG | c.7001A= (p.His2334=)
| |
| 1 | g.152307886G>A | CA1104939 | FLG | c.7000C>T (p.His2334Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307886G>C | CA1104940 | FLG | c.7000C>G (p.His2334Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307886G= | CA1147081410 | FLG | c.7000C= (p.His2334=)
| |
| 1 | g.152307886G>T | CA342049492 | FLG | c.7000C>A (p.His2334Asn)
| |
| 1 | g.152307887G>A | CA420928704 | FLG | c.6999C>T (p.His2333=)
| dbSNP |
| 1 | g.152307887G>C | CA342049493 | FLG | c.6999C>G (p.His2333Gln)
| |
| 1 | g.152307887G= | CA2479949371 | FLG | c.6999C= (p.His2333=)
| |
| 1 | g.152307887G>T | CA342049494 | FLG | c.6999C>A (p.His2333Gln)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307888T>A | CA342049496 | FLG | c.6998A>T (p.His2333Leu)
| |
| 1 | g.152307888T>C | CA1104941 | FLG | c.6998A>G (p.His2333Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307888T>G | CA342049495 | FLG | c.6998A>C (p.His2333Pro)
| dbSNP |
| 1 | g.152307888T= | CA1141277295 | FLG | c.6998A= (p.His2333=)
| |
| 1 | g.152307889G>A | CA1104942 | FLG | c.6997C>T (p.His2333Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307889G>C | CA342049498 | FLG | c.6997C>G (p.His2333Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307889G= | CA1143543440 | FLG | c.6997C= (p.His2333=)
| |
| 1 | g.152307889G>T | CA342049499 | FLG | c.6997C>A (p.His2333Asn)
| COSMIC |
| 1 | g.152307890G>A | CA420928707 | FLG | c.6996C>T (p.Ser2332=)
| dbSNP gnomAD v4 |
| 1 | g.152307890G>C | CA420928709 | FLG | c.6996C>G (p.Ser2332=)
| |
| 1 | g.152307890G= | CA2479949372 | FLG | c.6996C= (p.Ser2332=)
| |
| 1 | g.152307890G>T | CA420928714 | FLG | c.6996C>A (p.Ser2332=)
| |
| 1 | g.152307891G>A | CA342049501 | FLG | c.6995C>T (p.Ser2332Phe)
| gnomAD v4 |
| 1 | g.152307891G>C | CA342049503 | FLG | c.6995C>G (p.Ser2332Cys)
| gnomAD v4 |
| 1 | g.152307891G>T | CA342049504 | FLG | c.6995C>A (p.Ser2332Tyr)
| gnomAD v4 |
| 1 | g.152307892A= | CA2479949373 | FLG | c.6994T= (p.Ser2332=)
| |
| 1 | g.152307892A>C | CA342049506 | FLG | c.6994T>G (p.Ser2332Ala)
| |
| 1 | g.152307892A>G | CA342049507 | FLG | c.6994T>C (p.Ser2332Pro)
| dbSNP |
| 1 | g.152307892A>T | CA342049509 | FLG | c.6994T>A (p.Ser2332Thr)
| gnomAD v4 |
| 1 | g.152307893T>A | CA420928727 | FLG | c.6993A>T (p.Gly2331=)
| |
| 1 | g.152307893T>C | CA420928722 | FLG | c.6993A>G (p.Gly2331=)
| |
| 1 | g.152307893T>G | CA420928726 | FLG | c.6993A>C (p.Gly2331=)
| |
| 1 | g.152307894C>A | CA342049512 | FLG | c.6992G>T (p.Gly2331Val)
| gnomAD v4 |
| 1 | g.152307894C= | CA2479949374 | FLG | c.6992G= (p.Gly2331=)
| |
| 1 | g.152307894C>G | CA342049513 | FLG | c.6992G>C (p.Gly2331Ala)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307894C>T | CA342049515 | FLG | c.6992G>A (p.Gly2331Glu)
| COSMIC |
| 1 | g.152307895del | CA420928734 | FLG | c.6992del (p.Gly2331AspfsTer?)
| gnomAD v4 COSMIC |
| 1 | g.152307895C>A | CA342049517 | FLG | c.6991G>T (p.Gly2331Ter)
| |
| 1 | g.152307895C= | CA2479949375 | FLG | c.6991G= (p.Gly2331=)
| |
| 1 | g.152307895C>G | CA342049520 | FLG | c.6991G>C (p.Gly2331Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307895C>T | CA1104943 | FLG | c.6991G>A (p.Gly2331Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307896G>A | CA1104944 | FLG | c.6990C>T (p.His2330=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307896G>C | CA342049525 | FLG | c.6990C>G (p.His2330Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307896G= | CA1140079334 | FLG | c.6990C= (p.His2330=)
| |
| 1 | g.152307896G>T | CA1104945 | FLG | c.6990C>A (p.His2330Gln)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307897T>A | CA342049527 | FLG | c.6989A>T (p.His2330Leu)
| |
| 1 | g.152307897T>C | CA1104946 | FLG | c.6989A>G (p.His2330Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307897T>G | CA342049529 | FLG | c.6989A>C (p.His2330Pro)
| |
| 1 | g.152307897T= | CA2479949376 | FLG | c.6989A= (p.His2330=)
| |
| 1 | g.152307898del | CA2647993496 | FLG | c.6988del (p.His2330ThrfsTer?)
| gnomAD v4 |
| 1 | g.152307898G>A | CA342049530 | FLG | c.6988C>T (p.His2330Tyr)
| |
| 1 | g.152307898G>C | CA342049532 | FLG | c.6988C>G (p.His2330Asp)
| |
| 1 | g.152307898G>T | CA342049534 | FLG | c.6988C>A (p.His2330Asn)
| |
| 1 | g.152307898_152307900delinsGTC | CA2479949377 | FLG | c.6986_6988delinsGAC (p.Arg2329=)
| |
| 1 | g.152307899T>A | CA342049536 | FLG | c.6987A>T (p.Arg2329Ser)
| |
| 1 | g.152307899T>C | CA420928755 | FLG | c.6987A>G (p.Arg2329=)
| gnomAD v4 |
| 1 | g.152307899T>G | CA342049538 | FLG | c.6987A>C (p.Arg2329Ser)
| |
| 1 | g.152307905_152307906del | CA1104947 | FLG | c.6986_6987del (p.Arg2329ThrfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307900C>A | CA342049541 | FLG | c.6986G>T (p.Arg2329Ile)
| |
| 1 | g.152307900C>G | CA342049542 | FLG | c.6986G>C (p.Arg2329Thr)
| gnomAD v4 |
| 1 | g.152307900C>T | CA342049543 | FLG | c.6986G>A (p.Arg2329Lys)
| gnomAD v4 |
| 1 | g.152307901T>A | CA342049548 | FLG | c.6985A>T (p.Arg2329Ter)
| |
| 1 | g.152307901T>C | CA342049546 | FLG | c.6985A>G (p.Arg2329Gly)
| |
| 1 | g.152307901T>G | CA420928760 | FLG | c.6985A>C (p.Arg2329=)
| |
| 1 | g.152307902C>A | CA342049552 | FLG | c.6984G>T (p.Glu2328Asp)
| |
| 1 | g.152307902C= | CA1145714329 | FLG | c.6984G= (p.Glu2328=)
| |
| 1 | g.152307902C>G | CA1104949 | FLG | c.6984G>C (p.Glu2328Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307902C>T | CA1104948 | FLG | c.6984G>A (p.Glu2328=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307903T>A | CA342049560 | FLG | c.6983A>T (p.Glu2328Val)
| |
| 1 | g.152307903T>C | CA342049561 | FLG | c.6983A>G (p.Glu2328Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307903T>G | CA342049563 | FLG | c.6983A>C (p.Glu2328Ala)
| |
| 1 | g.152307903T= | CA2479949378 | FLG | c.6983A= (p.Glu2328=)
| |
| 1 | g.152307904C>A | CA342049568 | FLG | c.6982G>T (p.Glu2328Ter)
| |
| 1 | g.152307904C= | CA2479949379 | FLG | c.6982G= (p.Glu2328=)
| |
| 1 | g.152307904C>G | CA342049571 | FLG | c.6982G>C (p.Glu2328Gln)
| dbSNP gnomAD v2 |
| 1 | g.152307904C>T | CA1104950 | FLG | c.6982G>A (p.Glu2328Lys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307905T>A | CA420928773 | FLG | c.6981A>T (p.Gly2327=)
| |
| 1 | g.152307905T>C | CA420928774 | FLG | c.6981A>G (p.Gly2327=)
| |
| 1 | g.152307905T>G | CA420928775 | FLG | c.6981A>C (p.Gly2327=)
| |
| 1 | g.152307906C>A | CA1104952 | FLG | c.6980G>T (p.Gly2327Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307906C= | CA2479949380 | FLG | c.6980G= (p.Gly2327=)
| |
| 1 | g.152307906C>G | CA1104951 | FLG | c.6980G>C (p.Gly2327Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307906C>T | CA1104953 | FLG | c.6980G>A (p.Gly2327Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307907C>A | CA342049589 | FLG | c.6979G>T (p.Gly2327Ter)
| |
| 1 | g.152307907C= | CA2479949381 | FLG | c.6979G= (p.Gly2327=)
| |
| 1 | g.152307907C>G | CA342049587 | FLG | c.6979G>C (p.Gly2327Arg)
| |
| 1 | g.152307907C>T | CA1104954 | FLG | c.6979G>A (p.Gly2327Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307908T>A | CA420928782 | FLG | c.6978A>T (p.Ala2326=)
| |
| 1 | g.152307908T>C | CA420928779 | FLG | c.6978A>G (p.Ala2326=)
| |
| 1 | g.152307908T>G | CA420928783 | FLG | c.6978A>C (p.Ala2326=)
| gnomAD v4 |
| 1 | g.152307909G>A | CA342049591 | FLG | c.6977C>T (p.Ala2326Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307909G>C | CA342049592 | FLG | c.6977C>G (p.Ala2326Gly)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307909G= | CA2479949382 | FLG | c.6977C= (p.Ala2326=)
| |
| 1 | g.152307909G>T | CA342049593 | FLG | c.6977C>A (p.Ala2326Glu)
| gnomAD v4 |
| 1 | g.152307910C>A | CA342049594 | FLG | c.6976G>T (p.Ala2326Ser)
| |
| 1 | g.152307910C= | CA2479949383 | FLG | c.6976G= (p.Ala2326=)
| |
| 1 | g.152307910C>G | CA1104955 | FLG | c.6976G>C (p.Ala2326Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307910C>T | CA1104956 | FLG | c.6976G>A (p.Ala2326Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307911A= | CA2479949384 | FLG | c.6975T= (p.Ser2325=)
| |
| 1 | g.152307911A>C | CA342049600 | FLG | c.6975T>G (p.Ser2325Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307911A>G | CA30549296 | FLG | c.6975T>C (p.Ser2325=)
| dbSNP gnomAD v4 |
| 1 | g.152307911A>T | CA342049597 | FLG | c.6975T>A (p.Ser2325Arg)
| |
| 1 | g.152307912C>A | CA342049603 | FLG | c.6974G>T (p.Ser2325Ile)
| |
| 1 | g.152307912C= | CA2479949385 | FLG | c.6974G= (p.Ser2325=)
| |
| 1 | g.152307912C>G | CA342049605 | FLG | c.6974G>C (p.Ser2325Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307912C>T | CA342049608 | FLG | c.6974G>A (p.Ser2325Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307913T>A | CA342049612 | FLG | c.6973A>T (p.Ser2325Cys)
| |
| 1 | g.152307913T>C | CA342049614 | FLG | c.6973A>G (p.Ser2325Gly)
| |
| 1 | g.152307913T>G | CA342049617 | FLG | c.6973A>C (p.Ser2325Arg)
| |
| 1 | g.152307914T>A | CA420928797 | FLG | c.6972A>T (p.Ser2324=)
| |
| 1 | g.152307914T>C | CA420928800 | FLG | c.6972A>G (p.Ser2324=)
| |
| 1 | g.152307914T>G | CA420928798 | FLG | c.6972A>C (p.Ser2324=)
| |
| 1 | g.152307915G>A | CA342049621 | FLG | c.6971C>T (p.Ser2324Leu)
| COSMIC |
| 1 | g.152307915G>C | CA342049626 | FLG | c.6971C>G (p.Ser2324Ter)
| |
| 1 | g.152307915G>T | CA342049624 | FLG | c.6971C>A (p.Ser2324Ter)
| |
| 1 | g.152307916A>C | CA342049630 | FLG | c.6970T>G (p.Ser2324Ala)
| |
| 1 | g.152307916A>G | CA342049633 | FLG | c.6970T>C (p.Ser2324Pro)
| |
| 1 | g.152307916A>T | CA342049636 | FLG | c.6970T>A (p.Ser2324Thr)
| |
| 1 | g.152307917T>A | CA342049643 | FLG | c.6969A>T (p.Arg2323Ser)
| dbSNP gnomAD v4 |
| 1 | g.152307917T>C | CA420928807 | FLG | c.6969A>G (p.Arg2323=)
| |
| 1 | g.152307917T>G | CA342049644 | FLG | c.6969A>C (p.Arg2323Ser)
| |
| 1 | g.152307917T= | CA2479949386 | FLG | c.6969A= (p.Arg2323=)
| |
| 1 | g.152307918C>A | CA342049650 | FLG | c.6968G>T (p.Arg2323Ile)
| |
| 1 | g.152307918C= | CA2479949387 | FLG | c.6968G= (p.Arg2323=)
| |
| 1 | g.152307918C>G | CA1104957 | FLG | c.6968G>C (p.Arg2323Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307918C>T | CA342049654 | FLG | c.6968G>A (p.Arg2323Lys)
| gnomAD v4 |
| 1 | g.152307919T>A | CA342049659 | FLG | c.6967A>T (p.Arg2323Ter)
| |
| 1 | g.152307919T>C | CA342049661 | FLG | c.6967A>G (p.Arg2323Gly)
| |
| 1 | g.152307919T>G | CA420928810 | FLG | c.6967A>C (p.Arg2323=)
| |
| 1 | g.152307920T>A | CA420928813 | FLG | c.6966A>T (p.Ala2322=)
| |
| 1 | g.152307920T>C | CA420928814 | FLG | c.6966A>G (p.Ala2322=)
| |
| 1 | g.152307920T>G | CA420928816 | FLG | c.6966A>C (p.Ala2322=)
| |
| 1 | g.152307921G>A | CA342049671 | FLG | c.6965C>T (p.Ala2322Val)
| |
| 1 | g.152307921G>C | CA342049665 | FLG | c.6965C>G (p.Ala2322Gly)
| |
| 1 | g.152307921G>T | CA342049667 | FLG | c.6965C>A (p.Ala2322Glu)
| gnomAD v4 COSMIC |
| 1 | g.152307922C>A | CA342049674 | FLG | c.6964G>T (p.Ala2322Ser)
| dbSNP |
| 1 | g.152307922C= | CA1149129135 | FLG | c.6964G= (p.Ala2322=)
| |
| 1 | g.152307922C>G | CA342049676 | FLG | c.6964G>C (p.Ala2322Pro)
| |
| 1 | g.152307922C>T | CA1104958 | FLG | c.6964G>A (p.Ala2322Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307923C>A | CA342049681 | FLG | c.6963G>T (p.Gln2321His)
| |
| 1 | g.152307923C>G | CA342049682 | FLG | c.6963G>C (p.Gln2321His)
| |
| 1 | g.152307923C>T | CA420928823 | FLG | c.6963G>A (p.Gln2321=)
| |
| 1 | g.152307924T>A | CA342049685 | FLG | c.6962A>T (p.Gln2321Leu)
| |
| 1 | g.152307924T>C | CA342049689 | FLG | c.6962A>G (p.Gln2321Arg)
| |
| 1 | g.152307924T>G | CA342049691 | FLG | c.6962A>C (p.Gln2321Pro)
| ClinVar |
| 1 | g.152307925G>A | CA342049695 | FLG | c.6961C>T (p.Gln2321Ter)
| gnomAD v4 |
| 1 | g.152307925G>C | CA342049702 | FLG | c.6961C>G (p.Gln2321Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307925G= | CA2479949388 | FLG | c.6961C= (p.Gln2321=)
| |
| 1 | g.152307925G>T | CA342049699 | FLG | c.6961C>A (p.Gln2321Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307926T>A | CA342049703 | FLG | c.6960A>T (p.Glu2320Asp)
| |
| 1 | g.152307926T>C | CA420928834 | FLG | c.6960A>G (p.Glu2320=)
| |
| 1 | g.152307926T>G | CA342049708 | FLG | c.6960A>C (p.Glu2320Asp)
| |
| 1 | g.152307927T>A | CA342049710 | FLG | c.6959A>T (p.Glu2320Val)
| |
| 1 | g.152307927T>C | CA342049713 | FLG | c.6959A>G (p.Glu2320Gly)
| gnomAD v4 |
| 1 | g.152307927T>G | CA1104959 | FLG | c.6959A>C (p.Glu2320Ala)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307927T= | CA1141816583 | FLG | c.6959A= (p.Glu2320=)
| |
| 1 | g.152307928C>A | CA342049720 | FLG | c.6958G>T (p.Glu2320Ter)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152307928C= | CA2479949390 | FLG | c.6958G= (p.Glu2320=)
| |
| 1 | g.152307928C>G | CA342049727 | FLG | c.6958G>C (p.Glu2320Gln)
| dbSNP gnomAD v4 |
| 1 | g.152307928C>T | CA342049724 | FLG | c.6958G>A (p.Glu2320Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152307928_152307936delinsCATGGGATG | CA2479949389 | FLG | c.6950_6958delinsCATCCCATG (p.Ser2317=)
| |
| 1 | g.152307929A= | CA2479949392 | FLG | c.6957T= (p.His2319=)
| |
| 1 | g.152307929A>C | CA342049730 | FLG | c.6957T>G (p.His2319Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307929A>G | CA420928838 | FLG | c.6957T>C (p.His2319=)
| dbSNP |
| 1 | g.152307929A>T | CA342049731 | FLG | c.6957T>A (p.His2319Gln)
| |
| 1 | g.152307929dup | CA2479949391 | FLG | c.6957dup (p.Glu2320Ter)
| dbSNP |
| 1 | g.152307929_152307939delinsATGGGATGATG | CA1148116138 | FLG | c.6947_6957delinsCATCATCCCAT (p.Ala2316=)
| |
| 1 | g.152307932_152307939del | CA1104960 | FLG | c.6950_6957del (p.Ser2317Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307930T>A | CA342049736 | FLG | c.6956A>T (p.His2319Leu)
| |
| 1 | g.152307930T>C | CA1104961 | FLG | c.6956A>G (p.His2319Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152307930T>G | CA342049741 | FLG | c.6956A>C (p.His2319Pro)
| dbSNP gnomAD v4 |
| 1 | g.152307930T= | CA2479949393 | FLG | c.6956A= (p.His2319=)
| |
| 1 | g.152307931G>A | CA342049746 | FLG | c.6955C>T (p.His2319Tyr)
| gnomAD v4 |
| 1 | g.152307931G>C | CA342049748 | FLG | c.6955C>G (p.His2319Asp)
| |
| 1 | g.152307931G>T | CA342049749 | FLG | c.6955C>A (p.His2319Asn)
| |
| 1 | g.152307932G>A | CA420928847 | FLG | c.6954C>T (p.Ser2318=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152307932G>C | CA30549318 | FLG | c.6954C>G (p.Ser2318=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152307932G= | CA2479949394 | FLG | c.6954C= (p.Ser2318=)
| |
| 1 | g.152307932G>T | CA420928848 | FLG | c.6954C>A (p.Ser2318=)
| |
