Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304268T>A | CA342068442 | FLG | c.10618A>T (p.Ser3540Cys) c.9109-435A>T (n.9109-435A>T) | gnomAD v4 |
1 | g.152304268T>C | CA342068445 | FLG | c.10618A>G (p.Ser3540Gly) c.9109-435A>G (n.9109-435A>G) | |
1 | g.152304268T>G | CA342068448 | FLG | c.10618A>C (p.Ser3540Arg) c.9109-435A>C (n.9109-435A>C) | |
1 | g.152304268_152304274del | CA2604727330 | FLG | c.10612_10618del (p.Ser3538AlafsTer?) c.9109-441_9109-435del (n.9109-441_9109-435del) | gnomAD v3 gnomAD v4 |
1 | g.152304269A>C | CA420926445 | FLG | c.10617T>G (p.Val3539=) c.9109-436T>G (n.9109-436T>G) | gnomAD v4 |
1 | g.152304269A>G | CA420926446 | FLG | c.10617T>C (p.Val3539=) c.9109-436T>C (n.9109-436T>C) | |
1 | g.152304269A>T | CA420926447 | FLG | c.10617T>A (p.Val3539=) c.9109-436T>A (n.9109-436T>A) | |
1 | g.152304270A= | CA2479947357 | FLG | c.10616T= (p.Val3539=) c.9109-437T= (n.9109-437T=) | |
1 | g.152304270A>C | CA342068452 | FLG | c.10616T>G (p.Val3539Gly) c.9109-437T>G (n.9109-437T>G) | dbSNP |
1 | g.152304270A>G | CA342068454 | FLG | c.10616T>C (p.Val3539Ala) c.9109-437T>C (n.9109-437T>C) | |
1 | g.152304270A>T | CA342068457 | FLG | c.10616T>A (p.Val3539Asp) c.9109-437T>A (n.9109-437T>A) | |
1 | g.152304271C>A | CA1103258 | FLG | c.10615G>T (p.Val3539Phe) c.9109-438G>T (n.9109-438G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304271C= | CA2479947358 | FLG | c.10615G= (p.Val3539=) c.9109-438G= (n.9109-438G=) | |
1 | g.152304271C>G | CA342068462 | FLG | c.10615G>C (p.Val3539Leu) c.9109-438G>C (n.9109-438G>C) | |
1 | g.152304271C>T | CA342068466 | FLG | c.10615G>A (p.Val3539Ile) c.9109-438G>A (n.9109-438G>A) | |
1 | g.152304272A= | CA2479947359 | FLG | c.10614T= (p.Ser3538=) c.9109-439T= (n.9109-439T=) | |
1 | g.152304272A>C | CA342068472 | FLG | c.10614T>G (p.Ser3538Arg) c.9109-439T>G (n.9109-439T>G) | |
1 | g.152304272A>G | CA420926450 | FLG | c.10614T>C (p.Ser3538=) c.9109-439T>C (n.9109-439T>C) | |
1 | g.152304272A>T | CA342068475 | FLG | c.10614T>A (p.Ser3538Arg) c.9109-439T>A (n.9109-439T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304273C>A | CA342068486 | FLG | c.10613G>T (p.Ser3538Ile) c.9109-440G>T (n.9109-440G>T) | COSMIC |
1 | g.152304273C>G | CA342068479 | FLG | c.10613G>C (p.Ser3538Thr) c.9109-440G>C (n.9109-440G>C) | |
1 | g.152304273C>T | CA342068482 | FLG | c.10613G>A (p.Ser3538Asn) c.9109-440G>A (n.9109-440G>A) | |
1 | g.152304274T>A | CA342068490 | FLG | c.10612A>T (p.Ser3538Cys) c.9109-441A>T (n.9109-441A>T) | |
1 | g.152304274T>C | CA342068491 | FLG | c.10612A>G (p.Ser3538Gly) c.9109-441A>G (n.9109-441A>G) | dbSNP |
1 | g.152304274T>G | CA342068494 | FLG | c.10612A>C (p.Ser3538Arg) c.9109-441A>C (n.9109-441A>C) | gnomAD v4 |
1 | g.152304274T= | CA2479947360 | FLG | c.10612A= (p.Ser3538=) c.9109-441A= (n.9109-441A=) | |
1 | g.152304275G>A | CA420926458 | FLG | c.10611C>T (p.Ser3537=) c.9109-442C>T (n.9109-442C>T) | |
1 | g.152304275G>C | CA420926460 | FLG | c.10611C>G (p.Ser3537=) c.9109-442C>G (n.9109-442C>G) | |
1 | g.152304275G>T | CA420926459 | FLG | c.10611C>A (p.Ser3537=) c.9109-442C>A (n.9109-442C>A) | |
1 | g.152304276G>A | CA342068497 | FLG | c.10610C>T (p.Ser3537Phe) c.9109-443C>T (n.9109-443C>T) | gnomAD v4 |
1 | g.152304276G>C | CA342068499 | FLG | c.10610C>G (p.Ser3537Cys) c.9109-443C>G (n.9109-443C>G) | |
1 | g.152304276G= | CA2479947361 | FLG | c.10610C= (p.Ser3537=) c.9109-443C= (n.9109-443C=) | |
1 | g.152304276G>T | CA30600216 | FLG | c.10610C>A (p.Ser3537Tyr) c.9109-443C>A (n.9109-443C>A) | dbSNP gnomAD v4 |
1 | g.152304276_152304286del | CA2604727332 | FLG | c.10600_10610del (p.Asn3534GlnfsTer3) c.9109-453_9109-443del (n.9109-453_9109-443del) | gnomAD v3 gnomAD v4 |
1 | g.152304277A= | CA1146250119 | FLG | c.10609T= (p.Ser3537=) c.9109-444T= (n.9109-444T=) | |
1 | g.152304277A>C | CA342068506 | FLG | c.10609T>G (p.Ser3537Ala) c.9109-444T>G (n.9109-444T>G) | |
1 | g.152304277A>G | CA1103260 | FLG | c.10609T>C (p.Ser3537Pro) c.9109-444T>C (n.9109-444T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304277A>T | CA1103259 | FLG | c.10609T>A (p.Ser3537Thr) c.9109-444T>A (n.9109-444T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304278T>A | CA420926464 | FLG | c.10608A>T (p.Gly3536=) c.9109-445A>T (n.9109-445A>T) | |
1 | g.152304278T>C | CA420926465 | FLG | c.10608A>G (p.Gly3536=) c.9109-445A>G (n.9109-445A>G) | |
1 | g.152304278T>G | CA420926466 | FLG | c.10608A>C (p.Gly3536=) c.9109-445A>C (n.9109-445A>C) | |
1 | g.152304279C>A | CA342068514 | FLG | c.10607G>T (p.Gly3536Val) c.9109-446G>T (n.9109-446G>T) | |
1 | g.152304279C= | CA2479947362 | FLG | c.10607G= (p.Gly3536=) c.9109-446G= (n.9109-446G=) | |
1 | g.152304279C>G | CA342068517 | FLG | c.10607G>C (p.Gly3536Ala) c.9109-446G>C (n.9109-446G>C) | |
1 | g.152304279C>T | CA342068521 | FLG | c.10607G>A (p.Gly3536Glu) c.9109-446G>A (n.9109-446G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304280C>A | CA342068527 | FLG | c.10606G>T (p.Gly3536Ter) c.9109-447G>T (n.9109-447G>T) | dbSNP gnomAD v4 |
1 | g.152304280C= | CA2479947363 | FLG | c.10606G= (p.Gly3536=) c.9109-447G= (n.9109-447G=) | |
1 | g.152304280C>G | CA1103261 | FLG | c.10606G>C (p.Gly3536Arg) c.9109-447G>C (n.9109-447G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304280C>T | CA342068524 | FLG | c.10606G>A (p.Gly3536Arg) c.9109-447G>A (n.9109-447G>A) | gnomAD v4 |
1 | g.152304281C>A | CA342068533 | FLG | c.10605G>T (p.Gln3535His) c.9109-448G>T (n.9109-448G>T) | |
1 | g.152304281C>G | CA342068535 | FLG | c.10605G>C (p.Gln3535His) c.9109-448G>C (n.9109-448G>C) | |
1 | g.152304281C>T | CA420926470 | FLG | c.10605G>A (p.Gln3535=) c.9109-448G>A (n.9109-448G>A) | |
1 | g.152304282T>A | CA342068540 | FLG | c.10604A>T (p.Gln3535Leu) c.9109-449A>T (n.9109-449A>T) | |
1 | g.152304282T>C | CA342068542 | FLG | c.10604A>G (p.Gln3535Arg) c.9109-449A>G (n.9109-449A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304282T>G | CA342068544 | FLG | c.10604A>C (p.Gln3535Pro) c.9109-449A>C (n.9109-449A>C) | gnomAD v4 |
1 | g.152304282T= | CA2479947364 | FLG | c.10604A= (p.Gln3535=) c.9109-449A= (n.9109-449A=) | |
1 | g.152304283G>A | CA342068549 | FLG | c.10603C>T (p.Gln3535Ter) c.9109-450C>T (n.9109-450C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304283G>C | CA342068552 | FLG | c.10603C>G (p.Gln3535Glu) c.9109-450C>G (n.9109-450C>G) | dbSNP |
1 | g.152304283G= | CA2479947365 | FLG | c.10603C= (p.Gln3535=) c.9109-450C= (n.9109-450C=) | |
1 | g.152304283G>T | CA342068555 | FLG | c.10603C>A (p.Gln3535Lys) c.9109-450C>A (n.9109-450C>A) | |
1 | g.152304284G>A | CA420926477 | FLG | c.10602C>T (p.Asn3534=) c.9109-451C>T (n.9109-451C>T) | gnomAD v4 |
1 | g.152304284G>C | CA1103262 | FLG | c.10602C>G (p.Asn3534Lys) c.9109-451C>G (n.9109-451C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304284G= | CA2479947366 | FLG | c.10602C= (p.Asn3534=) c.9109-451C= (n.9109-451C=) | |
1 | g.152304284G>T | CA342068560 | FLG | c.10602C>A (p.Asn3534Lys) c.9109-451C>A (n.9109-451C>A) | |
1 | g.152304285T>A | CA342068564 | FLG | c.10601A>T (p.Asn3534Ile) c.9109-452A>T (n.9109-452A>T) | gnomAD v4 |
1 | g.152304285T>C | CA1103263 | FLG | c.10601A>G (p.Asn3534Ser) c.9109-452A>G (n.9109-452A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304285T>G | CA342068569 | FLG | c.10601A>C (p.Asn3534Thr) c.9109-452A>C (n.9109-452A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304285T= | CA1147294941 | FLG | c.10601A= (p.Asn3534=) c.9109-452A= (n.9109-452A=) | |
1 | g.152304285_152304286del | CA2647993480 | FLG | c.10600_10601del (p.Asn3534ProfsTer6) c.9109-453_9109-452del (n.9109-453_9109-452del) | gnomAD v4 |
1 | g.152304286T>A | CA1103264 | FLG | c.10600A>T (p.Asn3534Tyr) c.9109-453A>T (n.9109-453A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304286T>C | CA342068575 | FLG | c.10600A>G (p.Asn3534Asp) c.9109-453A>G (n.9109-453A>G) | gnomAD v4 |
1 | g.152304286T>G | CA1103265 | FLG | c.10600A>C (p.Asn3534His) c.9109-453A>C (n.9109-453A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304286T= | CA1140416061 | FLG | c.10600A= (p.Asn3534=) c.9109-453A= (n.9109-453A=) | |
1 | g.152304287C>A | CA342068580 | FLG | c.10599G>T (p.Arg3533Ser) c.9109-454G>T (n.9109-454G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304287C= | CA2479947367 | FLG | c.10599G= (p.Arg3533=) c.9109-454G= (n.9109-454G=) | |
1 | g.152304287C>G | CA342068583 | FLG | c.10599G>C (p.Arg3533Ser) c.9109-454G>C (n.9109-454G>C) | |
1 | g.152304287C>T | CA420926488 | FLG | c.10599G>A (p.Arg3533=) c.9109-454G>A (n.9109-454G>A) | dbSNP gnomAD v4 COSMIC |
1 | g.152304287_152304288insGT | CA2647993481 | FLG | c.10598_10599insAC (p.Asn3534ArgfsTer?) c.9109-455_9109-454insAC (n.9109-455_9109-454insAC) | gnomAD v4 |
1 | g.152304288C>A | CA342068587 | FLG | c.10598G>T (p.Arg3533Met) c.9109-455G>T (n.9109-455G>T) | |
1 | g.152304288C>G | CA342068589 | FLG | c.10598G>C (p.Arg3533Thr) c.9109-455G>C (n.9109-455G>C) | gnomAD v4 |
1 | g.152304288C>T | CA342068592 | FLG | c.10598G>A (p.Arg3533Lys) c.9109-455G>A (n.9109-455G>A) | |
1 | g.152304289T>A | CA342068595 | FLG | c.10597A>T (p.Arg3533Trp) c.9109-456A>T (n.9109-456A>T) | gnomAD v4 |
1 | g.152304289T>C | CA342068598 | FLG | c.10597A>G (p.Arg3533Gly) c.9109-456A>G (n.9109-456A>G) | |
1 | g.152304289T>G | CA420926491 | FLG | c.10597A>C (p.Arg3533=) c.9109-456A>C (n.9109-456A>C) | |
1 | g.152304290G>A | CA1103266 | FLG | c.10596C>T (p.Ser3532=) c.9109-457C>T (n.9109-457C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304290G>C | CA342068602 | FLG | c.10596C>G (p.Ser3532Arg) c.9109-457C>G (n.9109-457C>G) | |
1 | g.152304290G= | CA2479947368 | FLG | c.10596C= (p.Ser3532=) c.9109-457C= (n.9109-457C=) | |
1 | g.152304290G>T | CA342068605 | FLG | c.10596C>A (p.Ser3532Arg) c.9109-457C>A (n.9109-457C>A) | |
1 | g.152304291C>A | CA342068609 | FLG | c.10595G>T (p.Ser3532Ile) c.9109-458G>T (n.9109-458G>T) | dbSNP |
1 | g.152304291C= | CA2479947369 | FLG | c.10595G= (p.Ser3532=) c.9109-458G= (n.9109-458G=) | |
1 | g.152304291C>G | CA342068612 | FLG | c.10595G>C (p.Ser3532Thr) c.9109-458G>C (n.9109-458G>C) | |
1 | g.152304291C>T | CA342068615 | FLG | c.10595G>A (p.Ser3532Asn) c.9109-458G>A (n.9109-458G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304292T>A | CA342068623 | FLG | c.10594A>T (p.Ser3532Cys) c.9109-459A>T (n.9109-459A>T) | gnomAD v4 |
1 | g.152304292T>C | CA342068625 | FLG | c.10594A>G (p.Ser3532Gly) c.9109-459A>G (n.9109-459A>G) | gnomAD v4 COSMIC |
1 | g.152304292T>G | CA342068618 | FLG | c.10594A>C (p.Ser3532Arg) c.9109-459A>C (n.9109-459A>C) | |
1 | g.152304293T>A | CA420926498 | FLG | c.10593A>T (p.Thr3531=) c.9109-460A>T (n.9109-460A>T) | |
1 | g.152304293T>C | CA420926500 | FLG | c.10593A>G (p.Thr3531=) c.9109-460A>G (n.9109-460A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304293T>G | CA420926502 | FLG | c.10593A>C (p.Thr3531=) c.9109-460A>C (n.9109-460A>C) | gnomAD v4 |
1 | g.152304294G>A | CA342068628 | FLG | c.10592C>T (p.Thr3531Ile) c.9109-461C>T (n.9109-461C>T) | gnomAD v4 |
1 | g.152304294G>C | CA1103267 | FLG | c.10592C>G (p.Thr3531Arg) c.9109-461C>G (n.9109-461C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304294G= | CA2479947370 | FLG | c.10592C= (p.Thr3531=) c.9109-461C= (n.9109-461C=) | |
1 | g.152304294G>T | CA342068636 | FLG | c.10592C>A (p.Thr3531Lys) c.9109-461C>A (n.9109-461C>A) | dbSNP |
1 | g.152304295T>A | CA342068640 | FLG | c.10591A>T (p.Thr3531Ser) c.9109-462A>T (n.9109-462A>T) | |
1 | g.152304295T>C | CA342068642 | FLG | c.10591A>G (p.Thr3531Ala) c.9109-462A>G (n.9109-462A>G) | |
1 | g.152304295T>G | CA342068644 | FLG | c.10591A>C (p.Thr3531Pro) c.9109-462A>C (n.9109-462A>C) | |
1 | g.152304296C>A | CA1103268 | FLG | c.10590G>T (p.Arg3530Ser) c.9109-463G>T (n.9109-463G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304296C= | CA1140814079 | FLG | c.10590G= (p.Arg3530=) c.9109-463G= (n.9109-463G=) | |
1 | g.152304296C>G | CA342068649 | FLG | c.10590G>C (p.Arg3530Ser) c.9109-463G>C (n.9109-463G>C) | gnomAD v4 |
1 | g.152304296C>T | CA1103269 | FLG | c.10590G>A (p.Arg3530=) c.9109-463G>A (n.9109-463G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304297C>A | CA342068654 | FLG | c.10589G>T (p.Arg3530Met) c.9109-464G>T (n.9109-464G>T) | |
1 | g.152304297C= | CA2479947371 | FLG | c.10589G= (p.Arg3530=) c.9109-464G= (n.9109-464G=) | |
1 | g.152304297C>G | CA342068657 | FLG | c.10589G>C (p.Arg3530Thr) c.9109-464G>C (n.9109-464G>C) | |
1 | g.152304297C>T | CA30600272 | FLG | c.10589G>A (p.Arg3530Lys) c.9109-464G>A (n.9109-464G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304298T>A | CA342068664 | FLG | c.10588A>T (p.Arg3530Trp) c.9109-465A>T (n.9109-465A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304298T>C | CA342068662 | FLG | c.10588A>G (p.Arg3530Gly) c.9109-465A>G (n.9109-465A>G) | |
1 | g.152304298T>G | CA420926509 | FLG | c.10588A>C (p.Arg3530=) c.9109-465A>C (n.9109-465A>C) | |
1 | g.152304298T= | CA2479947372 | FLG | c.10588A= (p.Arg3530=) c.9109-465A= (n.9109-465A=) | |
1 | g.152304298_152304299delinsTG | CA2479947373 | FLG | c.10587_10588delinsCA (p.Pro3529=) c.9109-466_9109-465delinsCA (n.9109-466_9109-465delinsCA) | |
1 | g.152304299G>A | CA420926517 | FLG | c.10587C>T (p.Pro3529=) c.9109-466C>T (n.9109-466C>T) | |
1 | g.152304299G>C | CA420926515 | FLG | c.10587C>G (p.Pro3529=) c.9109-466C>G (n.9109-466C>G) | |
1 | g.152304299G>T | CA420926513 | FLG | c.10587C>A (p.Pro3529=) c.9109-466C>A (n.9109-466C>A) | gnomAD v4 |
1 | g.152304300_152304301dup | CA2647993482 | FLG | c.10586_10587dup (p.Arg3530ProfsTer?) c.9109-467_9109-466dup (n.9109-467_9109-466dup) | gnomAD v4 |
1 | g.152304301del | CA1103270 | FLG | c.10587del (p.Arg3530GlyfsTer?) c.9109-466del (n.9109-466del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304300G>A | CA342068668 | FLG | c.10586C>T (p.Pro3529Leu) c.9109-467C>T (n.9109-467C>T) | COSMIC |
1 | g.152304300G>C | CA342068671 | FLG | c.10586C>G (p.Pro3529Arg) c.9109-467C>G (n.9109-467C>G) | gnomAD v4 |
1 | g.152304300G>T | CA342068674 | FLG | c.10586C>A (p.Pro3529His) c.9109-467C>A (n.9109-467C>A) | |
1 | g.152304301G>A | CA1103271 | FLG | c.10585C>T (p.Pro3529Ser) c.9109-468C>T (n.9109-468C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304301G>C | CA342068681 | FLG | c.10585C>G (p.Pro3529Ala) c.9109-468C>G (n.9109-468C>G) | |
1 | g.152304301G= | CA1140426999 | FLG | c.10585C= (p.Pro3529=) c.9109-468C= (n.9109-468C=) | |
1 | g.152304301G>T | CA342068685 | FLG | c.10585C>A (p.Pro3529Thr) c.9109-468C>A (n.9109-468C>A) | |
1 | g.152304301_152304302delinsGC | CA2479947374 | FLG | c.10584_10585delinsGC (p.Gly3528=) c.9109-469_9109-468delinsGC (n.9109-469_9109-468delinsGC) | |
1 | g.152304302C>A | CA420926519 | FLG | c.10584G>T (p.Gly3528=) c.9109-469G>T (n.9109-469G>T) | dbSNP gnomAD v4 |
1 | g.152304302C= | CA2479947375 | FLG | c.10584G= (p.Gly3528=) c.9109-469G= (n.9109-469G=) | |
1 | g.152304302C>G | CA420926524 | FLG | c.10584G>C (p.Gly3528=) c.9109-469G>C (n.9109-469G>C) | |
1 | g.152304302C>T | CA420926521 | FLG | c.10584G>A (p.Gly3528=) c.9109-469G>A (n.9109-469G>A) | gnomAD v4 |
1 | g.152304305del | CA1007763776 | FLG | c.10584del (p.Arg3530GlyfsTer?) c.9109-469del (n.9109-469del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304303C>A | CA342068689 | FLG | c.10583G>T (p.Gly3528Val) c.9109-470G>T (n.9109-470G>T) | gnomAD v4 |
1 | g.152304303C= | CA2479947376 | FLG | c.10583G= (p.Gly3528=) c.9109-470G= (n.9109-470G=) | |
1 | g.152304303C>G | CA342068694 | FLG | c.10583G>C (p.Gly3528Ala) c.9109-470G>C (n.9109-470G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304303C>T | CA342068697 | FLG | c.10583G>A (p.Gly3528Glu) c.9109-470G>A (n.9109-470G>A) | dbSNP gnomAD v4 |
1 | g.152304304C>A | CA342068702 | FLG | c.10582G>T (p.Gly3528Trp) c.9109-471G>T (n.9109-471G>T) | |
1 | g.152304304C>G | CA342068704 | FLG | c.10582G>C (p.Gly3528Arg) c.9109-471G>C (n.9109-471G>C) | gnomAD v4 |
1 | g.152304304C>T | CA342068706 | FLG | c.10582G>A (p.Gly3528Arg) c.9109-471G>A (n.9109-471G>A) | |
1 | g.152304305C>A | CA420926527 | FLG | c.10581G>T (p.Ala3527=) c.9109-472G>T (n.9109-472G>T) | |
1 | g.152304305C= | CA1143384904 | FLG | c.10581G= (p.Ala3527=) c.9109-472G= (n.9109-472G=) | |
1 | g.152304305C>G | CA420926529 | FLG | c.10581G>C (p.Ala3527=) c.9109-472G>C (n.9109-472G>C) | gnomAD v4 |
1 | g.152304305C>T | CA1103272 | FLG | c.10581G>A (p.Ala3527=) c.9109-472G>A (n.9109-472G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304306G>A | CA1103274 | FLG | c.10580C>T (p.Ala3527Val) c.9109-473C>T (n.9109-473C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304306G>C | CA342068711 | FLG | c.10580C>G (p.Ala3527Gly) c.9109-473C>G (n.9109-473C>G) | |
1 | g.152304306G= | CA1140427000 | FLG | c.10580C= (p.Ala3527=) c.9109-473C= (n.9109-473C=) | |
1 | g.152304306G>T | CA1103273 | FLG | c.10580C>A (p.Ala3527Glu) c.9109-473C>A (n.9109-473C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304307C>A | CA342068719 | FLG | c.10579G>T (p.Ala3527Ser) c.9109-474G>T (n.9109-474G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304307C= | CA2479947377 | FLG | c.10579G= (p.Ala3527=) c.9109-474G= (n.9109-474G=) | |
1 | g.152304307C>G | CA342068729 | FLG | c.10579G>C (p.Ala3527Pro) c.9109-474G>C (n.9109-474G>C) | |
1 | g.152304307C>T | CA342068722 | FLG | c.10579G>A (p.Ala3527Thr) c.9109-474G>A (n.9109-474G>A) | gnomAD v4 |
1 | g.152304308T>A | CA420926533 | FLG | c.10578A>T (p.Ser3526=) c.9109-475A>T (n.9109-475A>T) | |
1 | g.152304308T>C | CA420926534 | FLG | c.10578A>G (p.Ser3526=) c.9109-475A>G (n.9109-475A>G) | |
1 | g.152304308T>G | CA1103275 | FLG | c.10578A>C (p.Ser3526=) c.9109-475A>C (n.9109-475A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304308T= | CA2479947378 | FLG | c.10578A= (p.Ser3526=) c.9109-475A= (n.9109-475A=) | |
1 | g.152304309G>A | CA342068736 | FLG | c.10577C>T (p.Ser3526Leu) c.9109-476C>T (n.9109-476C>T) | dbSNP |
1 | g.152304309G>C | CA342068737 | FLG | c.10577C>G (p.Ser3526Ter) c.9109-476C>G (n.9109-476C>G) | |
1 | g.152304309G= | CA2479947379 | FLG | c.10577C= (p.Ser3526=) c.9109-476C= (n.9109-476C=) | |
1 | g.152304309G>T | CA342068741 | FLG | c.10577C>A (p.Ser3526Ter) c.9109-476C>A (n.9109-476C>A) | dbSNP gnomAD v4 |
1 | g.152304310A>C | CA342068744 | FLG | c.10576T>G (p.Ser3526Ala) c.9109-477T>G (n.9109-477T>G) | |
1 | g.152304310A>G | CA342068746 | FLG | c.10576T>C (p.Ser3526Pro) c.9109-477T>C (n.9109-477T>C) | |
1 | g.152304310A>T | CA342068748 | FLG | c.10576T>A (p.Ser3526Thr) c.9109-477T>A (n.9109-477T>A) | |
1 | g.152304311T>A | CA342068750 | FLG | c.10575A>T (p.Gln3525His) c.9109-478A>T (n.9109-478A>T) | |
1 | g.152304311T>C | CA420926538 | FLG | c.10575A>G (p.Gln3525=) c.9109-478A>G (n.9109-478A>G) | gnomAD v4 |
1 | g.152304311T>G | CA342068751 | FLG | c.10575A>C (p.Gln3525His) c.9109-478A>C (n.9109-478A>C) | COSMIC |
1 | g.152304312T>A | CA342068752 | FLG | c.10574A>T (p.Gln3525Leu) c.9109-479A>T (n.9109-479A>T) | gnomAD v4 |
1 | g.152304312T>C | CA342068753 | FLG | c.10574A>G (p.Gln3525Arg) c.9109-479A>G (n.9109-479A>G) | |
1 | g.152304312T>G | CA342068754 | FLG | c.10574A>C (p.Gln3525Pro) c.9109-479A>C (n.9109-479A>C) | |
1 | g.152304313G>A | CA342068765 | FLG | c.10573C>T (p.Gln3525Ter) c.9109-480C>T (n.9109-480C>T) | |
1 | g.152304313G>C | CA1103276 | FLG | c.10573C>G (p.Gln3525Glu) c.9109-480C>G (n.9109-480C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304313G= | CA2479947380 | FLG | c.10573C= (p.Gln3525=) c.9109-480C= (n.9109-480C=) | |
1 | g.152304313G>T | CA1103277 | FLG | c.10573C>A (p.Gln3525Lys) c.9109-480C>A (n.9109-480C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304314T>A | CA420926544 | FLG | c.10572A>T (p.Gly3524=) c.9109-481A>T (n.9109-481A>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304314T>C | CA420926545 | FLG | c.10572A>G (p.Gly3524=) c.9109-481A>G (n.9109-481A>G) | dbSNP |
1 | g.152304314T>G | CA420926546 | FLG | c.10572A>C (p.Gly3524=) c.9109-481A>C (n.9109-481A>C) | |
1 | g.152304314T= | CA2479947382 | FLG | c.10572A= (p.Gly3524=) c.9109-481A= (n.9109-481A=) | |
1 | g.152304314_152304315delinsTC | CA2479947381 | FLG | c.10571_10572delinsGA (p.Gly3524=) c.9109-482_9109-481delinsGA (n.9109-482_9109-481delinsGA) | |
1 | g.152304315C>A | CA342068767 | FLG | c.10571G>T (p.Gly3524Val) c.9109-482G>T (n.9109-482G>T) | gnomAD v4 |
1 | g.152304315C= | CA2479947384 | FLG | c.10571G= (p.Gly3524=) c.9109-482G= (n.9109-482G=) | |
1 | g.152304315C>G | CA342068769 | FLG | c.10571G>C (p.Gly3524Ala) c.9109-482G>C (n.9109-482G>C) | |
1 | g.152304315C>T | CA342068772 | FLG | c.10571G>A (p.Gly3524Glu) c.9109-482G>A (n.9109-482G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304317del | CA2479947383 | FLG | c.10571del (p.Gly3524AspfsTer?) c.9109-482del (n.9109-482del) | dbSNP gnomAD v4 |
1 | g.152304316C>A | CA30600351 | FLG | c.10570G>T (p.Gly3524Ter) c.9109-483G>T (n.9109-483G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304316C= | CA2479947385 | FLG | c.10570G= (p.Gly3524=) c.9109-483G= (n.9109-483G=) | |
1 | g.152304316C>G | CA342068779 | FLG | c.10570G>C (p.Gly3524Arg) c.9109-483G>C (n.9109-483G>C) | |
1 | g.152304316C>T | CA1103278 | FLG | c.10570G>A (p.Gly3524Arg) c.9109-483G>A (n.9109-483G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304317C>A | CA342068784 | FLG | c.10569G>T (p.Gln3523His) c.9109-484G>T (n.9109-484G>T) | |
1 | g.152304317C>G | CA342068786 | FLG | c.10569G>C (p.Gln3523His) c.9109-484G>C (n.9109-484G>C) | gnomAD v4 |
1 | g.152304317C>T | CA420926550 | FLG | c.10569G>A (p.Gln3523=) c.9109-484G>A (n.9109-484G>A) | |
1 | g.152304318T>A | CA342068787 | FLG | c.10568A>T (p.Gln3523Leu) c.9109-485A>T (n.9109-485A>T) | |
1 | g.152304318T>C | CA342068789 | FLG | c.10568A>G (p.Gln3523Arg) c.9109-485A>G (n.9109-485A>G) | |
1 | g.152304318T>G | CA342068792 | FLG | c.10568A>C (p.Gln3523Pro) c.9109-485A>C (n.9109-485A>C) | gnomAD v4 |
1 | g.152304318_152304322delinsTGGCC | CA2479947386 | FLG | c.10564_10568delinsGGCCA (p.Gly3522=) c.9109-489_9109-485delinsGGCCA (n.9109-489_9109-485delinsGGCCA) | |
1 | g.152304319G>A | CA342068798 | FLG | c.10567C>T (p.Gln3523Ter) c.9109-486C>T (n.9109-486C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304319G>C | CA342068814 | FLG | c.10567C>G (p.Gln3523Glu) c.9109-486C>G (n.9109-486C>G) | gnomAD v4 |
1 | g.152304319G= | CA2479947387 | FLG | c.10567C= (p.Gln3523=) c.9109-486C= (n.9109-486C=) | |
1 | g.152304319G>T | CA342068797 | FLG | c.10567C>A (p.Gln3523Lys) c.9109-486C>A (n.9109-486C>A) | gnomAD v4 |
1 | g.152304321_152304324del | CA526662129 | FLG | c.10564_10567del (p.Gly3522ArgfsTer?) c.9109-489_9109-486del (n.9109-489_9109-486del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304320G>A | CA420926554 | FLG | c.10566C>T (p.Gly3522=) c.9109-487C>T (n.9109-487C>T) | dbSNP |
1 | g.152304320G>C | CA420926556 | FLG | c.10566C>G (p.Gly3522=) c.9109-487C>G (n.9109-487C>G) | gnomAD v4 |
1 | g.152304320G= | CA2479947388 | FLG | c.10566C= (p.Gly3522=) c.9109-487C= (n.9109-487C=) | |
1 | g.152304320G>T | CA1103279 | FLG | c.10566C>A (p.Gly3522=) c.9109-487C>A (n.9109-487C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304320_152304321insA | CA2647993484 | FLG | c.10565_10566insT (p.Gln3523ProfsTer18) c.9109-488_9109-487insT (n.9109-488_9109-487insT) | gnomAD v4 |
1 | g.152304321C>A | CA1103280 | FLG | c.10565G>T (p.Gly3522Val) c.9109-488G>T (n.9109-488G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304321C= | CA1147658161 | FLG | c.10565G= (p.Gly3522=) c.9109-488G= (n.9109-488G=) | |
1 | g.152304321C>G | CA342068817 | FLG | c.10565G>C (p.Gly3522Ala) c.9109-488G>C (n.9109-488G>C) | |
1 | g.152304321C>T | CA1103281 | FLG | c.10565G>A (p.Gly3522Asp) c.9109-488G>A (n.9109-488G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304322C>A | CA1103283 | FLG | c.10564G>T (p.Gly3522Cys) c.9109-489G>T (n.9109-489G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304322C= | CA1141431108 | FLG | c.10564G= (p.Gly3522=) c.9109-489G= (n.9109-489G=) | |
1 | g.152304322C>G | CA342068826 | FLG | c.10564G>C (p.Gly3522Arg) c.9109-489G>C (n.9109-489G>C) | |
1 | g.152304322C>T | CA1103282 | FLG | c.10564G>A (p.Gly3522Ser) c.9109-489G>A (n.9109-489G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304323G>A | CA1103284 | FLG | c.10563C>T (p.Ser3521=) c.9109-490C>T (n.9109-490C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304323G>C | CA1103286 | FLG | c.10563C>G (p.Ser3521=) c.9109-490C>G (n.9109-490C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304323G= | CA1141626146 | FLG | c.10563C= (p.Ser3521=) c.9109-490C= (n.9109-490C=) | |
1 | g.152304323G>T | CA1103285 | FLG | c.10563C>A (p.Ser3521=) c.9109-490C>A (n.9109-490C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304323_152304325del | CA2647993485 | FLG | c.10561_10563del (p.Ser3521del) c.9109-492_9109-490del (n.9109-492_9109-490del) | gnomAD v4 |
1 | g.152304324G>A | CA1103288 | FLG | c.10562C>T (p.Ser3521Phe) c.9109-491C>T (n.9109-491C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304324G>C | CA342068840 | FLG | c.10562C>G (p.Ser3521Cys) c.9109-491C>G (n.9109-491C>G) | dbSNP gnomAD v4 |
1 | g.152304324G= | CA2479947389 | FLG | c.10562C= (p.Ser3521=) c.9109-491C= (n.9109-491C=) | |
1 | g.152304324G>T | CA1103287 | FLG | c.10562C>A (p.Ser3521Tyr) c.9109-491C>A (n.9109-491C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304325A= | CA1144408182 | FLG | c.10561T= (p.Ser3521=) c.9109-492T= (n.9109-492T=) | |
1 | g.152304325A>C | CA1103289 | FLG | c.10561T>G (p.Ser3521Ala) c.9109-492T>G (n.9109-492T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304325A>G | CA342068864 | FLG | c.10561T>C (p.Ser3521Pro) c.9109-492T>C (n.9109-492T>C) | |
1 | g.152304325A>T | CA342068855 | FLG | c.10561T>A (p.Ser3521Thr) c.9109-492T>A (n.9109-492T>A) | |
1 | g.152304326C>A | CA342068868 | FLG | c.10560G>T (p.Gln3520His) c.9109-493G>T (n.9109-493G>T) | |
1 | g.152304326C>G | CA342068869 | FLG | c.10560G>C (p.Gln3520His) c.9109-493G>C (n.9109-493G>C) | |
1 | g.152304326C>T | CA420926560 | FLG | c.10560G>A (p.Gln3520=) c.9109-493G>A (n.9109-493G>A) | |
1 | g.152304327T>A | CA342068870 | FLG | c.10559A>T (p.Gln3520Leu) c.9109-494A>T (n.9109-494A>T) | gnomAD v4 |
1 | g.152304327T>C | CA342068871 | FLG | c.10559A>G (p.Gln3520Arg) c.9109-494A>G (n.9109-494A>G) | |
1 | g.152304327T>G | CA1103290 | FLG | c.10559A>C (p.Gln3520Pro) c.9109-494A>C (n.9109-494A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304327T= | CA1141175225 | FLG | c.10559A= (p.Gln3520=) c.9109-494A= (n.9109-494A=) | |
1 | g.152304328G>A | CA1103291 | FLG | c.10558C>T (p.Gln3520Ter) c.9109-495C>T (n.9109-495C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304328G>C | CA342068884 | FLG | c.10558C>G (p.Gln3520Glu) c.9109-495C>G (n.9109-495C>G) | gnomAD v4 COSMIC |
1 | g.152304328G= | CA2479947390 | FLG | c.10558C= (p.Gln3520=) c.9109-495C= (n.9109-495C=) | |
1 | g.152304328G>T | CA342068896 | FLG | c.10558C>A (p.Gln3520Lys) c.9109-495C>A (n.9109-495C>A) | |
1 | g.152304328_152304329insCCGG | CA2647993487 | FLG | c.10558_10559insCGGC (p.Gln3520ProfsTer22) c.9109-495_9109-494insCGGC (n.9109-495_9109-494insCGGC) | gnomAD v4 |
1 | g.152304329T>A | CA420926563 | FLG | c.10557A>T (p.Ser3519=) c.9109-496A>T (n.9109-496A>T) | |
1 | g.152304329T>C | CA420926565 | FLG | c.10557A>G (p.Ser3519=) c.9109-496A>G (n.9109-496A>G) | dbSNP |
1 | g.152304329T>G | CA420926564 | FLG | c.10557A>C (p.Ser3519=) c.9109-496A>C (n.9109-496A>C) | |
1 | g.152304329T= | CA2479947391 | FLG | c.10557A= (p.Ser3519=) c.9109-496A= (n.9109-496A=) | |
1 | g.152304330G>A | CA1103292 | FLG | c.10556C>T (p.Ser3519Leu) c.9109-497C>T (n.9109-497C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304330G>C | CA30600398 | FLG | c.10556C>G (p.Ser3519Ter) c.9109-497C>G (n.9109-497C>G) | dbSNP gnomAD v4 |
1 | g.152304330G= | CA2479947392 | FLG | c.10556C= (p.Ser3519=) c.9109-497C= (n.9109-497C=) | |
1 | g.152304330G>T | CA342068921 | FLG | c.10556C>A (p.Ser3519Ter) c.9109-497C>A (n.9109-497C>A) | |
1 | g.152304331A>C | CA342068926 | FLG | c.10555T>G (p.Ser3519Ala) c.9109-498T>G (n.9109-498T>G) | |
1 | g.152304331A>G | CA342068928 | FLG | c.10555T>C (p.Ser3519Pro) c.9109-498T>C (n.9109-498T>C) | |
1 | g.152304331A>T | CA342068930 | FLG | c.10555T>A (p.Ser3519Thr) c.9109-498T>A (n.9109-498T>A) | gnomAD v4 |
1 | g.152304332G>A | CA420926567 | FLG | c.10554C>T (p.His3518=) c.9109-499C>T (n.9109-499C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304332G>C | CA342068932 | FLG | c.10554C>G (p.His3518Gln) c.9109-499C>G (n.9109-499C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304332G= | CA2479947394 | FLG | c.10554C= (p.His3518=) c.9109-499C= (n.9109-499C=) | |
1 | g.152304332G>T | CA342068934 | FLG | c.10554C>A (p.His3518Gln) c.9109-499C>A (n.9109-499C>A) | |
1 | g.152304332_152304333delinsGT | CA2479947393 | FLG | c.10553_10554delinsAC (p.His3518=) c.9109-500_9109-499delinsAC (n.9109-500_9109-499delinsAC) | |
1 | g.152304333del | CA1103293 | FLG | c.10553del (p.His3518ProfsTer?) c.9109-500del (n.9109-500del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304333T>A | CA342068946 | FLG | c.10553A>T (p.His3518Leu) c.9109-500A>T (n.9109-500A>T) | |
1 | g.152304333T>C | CA342068950 | FLG | c.10553A>G (p.His3518Arg) c.9109-500A>G (n.9109-500A>G) | |
1 | g.152304333T>G | CA1103294 | FLG | c.10553A>C (p.His3518Pro) c.9109-500A>C (n.9109-500A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304333T= | CA2479947395 | FLG | c.10553A= (p.His3518=) c.9109-500A= (n.9109-500A=) | |
1 | g.152304334G>A | CA1103295 | FLG | c.10552C>T (p.His3518Tyr) c.9109-501C>T (n.9109-501C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304334G>C | CA342068979 | FLG | c.10552C>G (p.His3518Asp) c.9109-501C>G (n.9109-501C>G) | |
1 | g.152304334G= | CA1148277474 | FLG | c.10552C= (p.His3518=) c.9109-501C= (n.9109-501C=) | |
1 | g.152304334G>T | CA1103296 | FLG | c.10552C>A (p.His3518Asn) c.9109-501C>A (n.9109-501C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304335T>A | CA342068987 | FLG | c.10551A>T (p.Arg3517Ser) c.9109-502A>T (n.9109-502A>T) | |
1 | g.152304335T>C | CA420926572 | FLG | c.10551A>G (p.Arg3517=) c.9109-502A>G (n.9109-502A>G) | |
1 | g.152304335T>G | CA342068986 | FLG | c.10551A>C (p.Arg3517Ser) c.9109-502A>C (n.9109-502A>C) | |
1 | g.152304336C>A | CA1103297 | FLG | c.10550G>T (p.Arg3517Ile) c.9109-503G>T (n.9109-503G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304336C= | CA1142429974 | FLG | c.10550G= (p.Arg3517=) c.9109-503G= (n.9109-503G=) | |
1 | g.152304336C>G | CA342068998 | FLG | c.10550G>C (p.Arg3517Thr) c.9109-503G>C (n.9109-503G>C) | dbSNP |
1 | g.152304336C>T | CA342068999 | FLG | c.10550G>A (p.Arg3517Lys) c.9109-503G>A (n.9109-503G>A) | gnomAD v4 |
1 | g.152304337T>A | CA342069000 | FLG | c.10549A>T (p.Arg3517Ter) c.9109-504A>T (n.9109-504A>T) | |
1 | g.152304337T>C | CA342069001 | FLG | c.10549A>G (p.Arg3517Gly) c.9109-504A>G (n.9109-504A>G) | |
1 | g.152304337T>G | CA420926577 | FLG | c.10549A>C (p.Arg3517=) c.9109-504A>C (n.9109-504A>C) | |
1 | g.152304338A= | CA1148441147 | FLG | c.10548T= (p.Ser3516=) c.9109-505T= (n.9109-505T=) | |
1 | g.152304338A>C | CA420926578 | FLG | c.10548T>G (p.Ser3516=) c.9109-505T>G (n.9109-505T>G) | |
1 | g.152304338A>G | CA1103298 | FLG | c.10548T>C (p.Ser3516=) c.9109-505T>C (n.9109-505T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304338A>T | CA420926581 | FLG | c.10548T>A (p.Ser3516=) c.9109-505T>A (n.9109-505T>A) | |
1 | g.152304339G>A | CA342069024 | FLG | c.10547C>T (p.Ser3516Phe) c.9109-506C>T (n.9109-506C>T) | COSMIC |
1 | g.152304339G>C | CA342069009 | FLG | c.10547C>G (p.Ser3516Cys) c.9109-506C>G (n.9109-506C>G) | dbSNP |
1 | g.152304339G= | CA2479947396 | FLG | c.10547C= (p.Ser3516=) c.9109-506C= (n.9109-506C=) | |
1 | g.152304339G>T | CA342069010 | FLG | c.10547C>A (p.Ser3516Tyr) c.9109-506C>A (n.9109-506C>A) | |
1 | g.152304340A>C | CA342069031 | FLG | c.10546T>G (p.Ser3516Ala) c.9109-507T>G (n.9109-507T>G) | |
1 | g.152304340A>G | CA342069033 | FLG | c.10546T>C (p.Ser3516Pro) c.9109-507T>C (n.9109-507T>C) | |
1 | g.152304340A>T | CA342069034 | FLG | c.10546T>A (p.Ser3516Thr) c.9109-507T>A (n.9109-507T>A) | |
1 | g.152304341G>A | CA420926583 | FLG | c.10545C>T (p.Ser3515=) c.9109-508C>T (n.9109-508C>T) | COSMIC |
1 | g.152304341G>C | CA342069035 | FLG | c.10545C>G (p.Ser3515Arg) c.9109-508C>G (n.9109-508C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304341G= | CA2479947397 | FLG | c.10545C= (p.Ser3515=) c.9109-508C= (n.9109-508C=) | |
1 | g.152304341G>T | CA342069036 | FLG | c.10545C>A (p.Ser3515Arg) c.9109-508C>A (n.9109-508C>A) | |
1 | g.152304342C>A | CA342069040 | FLG | c.10544G>T (p.Ser3515Ile) c.9109-509G>T (n.9109-509G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304342C= | CA2479947398 | FLG | c.10544G= (p.Ser3515=) c.9109-509G= (n.9109-509G=) | |
1 | g.152304342C>G | CA342069042 | FLG | c.10544G>C (p.Ser3515Thr) c.9109-509G>C (n.9109-509G>C) | gnomAD v4 |
1 | g.152304342C>T | CA342069044 | FLG | c.10544G>A (p.Ser3515Asn) c.9109-509G>A (n.9109-509G>A) | |
1 | g.152304343T>A | CA342069046 | FLG | c.10543A>T (p.Ser3515Cys) c.9109-510A>T (n.9109-510A>T) | |
1 | g.152304343T>C | CA342069049 | FLG | c.10543A>G (p.Ser3515Gly) c.9109-510A>G (n.9109-510A>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304343T>G | CA1103299 | FLG | c.10543A>C (p.Ser3515Arg) c.9109-510A>C (n.9109-510A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304343T= | CA2479947399 | FLG | c.10543A= (p.Ser3515=) c.9109-510A= (n.9109-510A=) | |
1 | g.152304344G>A | CA420926587 | FLG | c.10542C>T (p.Asp3514=) c.9109-511C>T (n.9109-511C>T) | gnomAD v4 |
1 | g.152304344G>C | CA342069058 | FLG | c.10542C>G (p.Asp3514Glu) c.9109-511C>G (n.9109-511C>G) | gnomAD v4 COSMIC |
1 | g.152304344G>T | CA342069060 | FLG | c.10542C>A (p.Asp3514Glu) c.9109-511C>A (n.9109-511C>A) | |
1 | g.152304345T>A | CA342069063 | FLG | c.10541A>T (p.Asp3514Val) c.9109-512A>T (n.9109-512A>T) | gnomAD v4 |
1 | g.152304345T>C | CA342069071 | FLG | c.10541A>G (p.Asp3514Gly) c.9109-512A>G (n.9109-512A>G) | |
1 | g.152304345T>G | CA342069065 | FLG | c.10541A>C (p.Asp3514Ala) c.9109-512A>C (n.9109-512A>C) | |
1 | g.152304346C>A | CA342069076 | FLG | c.10540G>T (p.Asp3514Tyr) c.9109-513G>T (n.9109-513G>T) | |
1 | g.152304346C= | CA2479947400 | FLG | c.10540G= (p.Asp3514=) c.9109-513G= (n.9109-513G=) | |
1 | g.152304346C>G | CA342069078 | FLG | c.10540G>C (p.Asp3514His) c.9109-513G>C (n.9109-513G>C) | |
1 | g.152304346C>T | CA30600455 | FLG | c.10540G>A (p.Asp3514Asn) c.9109-513G>A (n.9109-513G>A) | dbSNP |
1 | g.152304347C>A | CA1103301 | FLG | c.10539G>T (p.Ala3513=) c.9109-514G>T (n.9109-514G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304347C= | CA1144585579 | FLG | c.10539G= (p.Ala3513=) c.9109-514G= (n.9109-514G=) | |
1 | g.152304347C>G | CA1103300 | FLG | c.10539G>C (p.Ala3513=) c.9109-514G>C (n.9109-514G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304347C>T | CA30600458 | FLG | c.10539G>A (p.Ala3513=) c.9109-514G>A (n.9109-514G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304348G>A | CA1103302 | FLG | c.10538C>T (p.Ala3513Val) c.9109-515C>T (n.9109-515C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304348G>C | CA342069087 | FLG | c.10538C>G (p.Ala3513Gly) c.9109-515C>G (n.9109-515C>G) | |
1 | g.152304348G= | CA1141919557 | FLG | c.10538C= (p.Ala3513=) c.9109-515C= (n.9109-515C=) | |
1 | g.152304348G>T | CA342069088 | FLG | c.10538C>A (p.Ala3513Glu) c.9109-515C>A (n.9109-515C>A) | |
1 | g.152304349C>A | CA342069089 | FLG | c.10537G>T (p.Ala3513Ser) c.9109-516G>T (n.9109-516G>T) | dbSNP |
1 | g.152304349C= | CA2479947401 | FLG | c.10537G= (p.Ala3513=) c.9109-516G= (n.9109-516G=) | |
1 | g.152304349C>G | CA342069093 | FLG | c.10537G>C (p.Ala3513Pro) c.9109-516G>C (n.9109-516G>C) | |
1 | g.152304349C>T | CA342069094 | FLG | c.10537G>A (p.Ala3513Thr) c.9109-516G>A (n.9109-516G>A) | gnomAD v4 |
1 | g.152304350C>A | CA342069097 | FLG | c.10536G>T (p.Gln3512His) c.9109-517G>T (n.9109-517G>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304350C= | CA2479947402 | FLG | c.10536G= (p.Gln3512=) c.9109-517G= (n.9109-517G=) | |
1 | g.152304350C>G | CA342069098 | FLG | c.10536G>C (p.Gln3512His) c.9109-517G>C (n.9109-517G>C) | |
1 | g.152304350C>T | CA420926593 | FLG | c.10536G>A (p.Gln3512=) c.9109-517G>A (n.9109-517G>A) | COSMIC |
1 | g.152304351T>A | CA342069101 | FLG | c.10535A>T (p.Gln3512Leu) c.9109-518A>T (n.9109-518A>T) | |
1 | g.152304351T>C | CA1103303 | FLG | c.10535A>G (p.Gln3512Arg) c.9109-518A>G (n.9109-518A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304351T>G | CA342069105 | FLG | c.10535A>C (p.Gln3512Pro) c.9109-518A>C (n.9109-518A>C) | dbSNP gnomAD v4 |
1 | g.152304351T= | CA1147588279 | FLG | c.10535A= (p.Gln3512=) c.9109-518A= (n.9109-518A=) | |
1 | g.152304352G>A | CA1103304 | FLG | c.10534C>T (p.Gln3512Ter) c.9109-519C>T (n.9109-519C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304352G>C | CA1103305 | FLG | c.10534C>G (p.Gln3512Glu) c.9109-519C>G (n.9109-519C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304352G= | CA1144274083 | FLG | c.10534C= (p.Gln3512=) c.9109-519C= (n.9109-519C=) | |
1 | g.152304352G>T | CA342069115 | FLG | c.10534C>A (p.Gln3512Lys) c.9109-519C>A (n.9109-519C>A) | dbSNP |
1 | g.152304353A= | CA1142091343 | FLG | c.10533T= (p.Thr3511=) c.9109-520T= (n.9109-520T=) | |
1 | g.152304353A>C | CA420926594 | FLG | c.10533T>G (p.Thr3511=) c.9109-520T>G (n.9109-520T>G) | |
1 | g.152304353A>G | CA1103306 | FLG | c.10533T>C (p.Thr3511=) c.9109-520T>C (n.9109-520T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304353A>T | CA420926596 | FLG | c.10533T>A (p.Thr3511=) c.9109-520T>A (n.9109-520T>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304354G>A | CA1103307 | FLG | c.10532C>T (p.Thr3511Ile) c.9109-521C>T (n.9109-521C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304354G>C | CA342069118 | FLG | c.10532C>G (p.Thr3511Ser) c.9109-521C>G (n.9109-521C>G) | |
1 | g.152304354G= | CA1143477613 | FLG | c.10532C= (p.Thr3511=) c.9109-521C= (n.9109-521C=) | |
1 | g.152304354G>T | CA342069120 | FLG | c.10532C>A (p.Thr3511Asn) c.9109-521C>A (n.9109-521C>A) | dbSNP |
1 | g.152304355T>A | CA1103308 | FLG | c.10531A>T (p.Thr3511Ser) c.9109-522A>T (n.9109-522A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304355T>C | CA342069125 | FLG | c.10531A>G (p.Thr3511Ala) c.9109-522A>G (n.9109-522A>G) | gnomAD v4 |
1 | g.152304355T>G | CA342069127 | FLG | c.10531A>C (p.Thr3511Pro) c.9109-522A>C (n.9109-522A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304355T= | CA1145810027 | FLG | c.10531A= (p.Thr3511=) c.9109-522A= (n.9109-522A=) | |
1 | g.152304356G>A | CA420926599 | FLG | c.10530C>T (p.Ser3510=) c.9109-523C>T (n.9109-523C>T) | dbSNP |
1 | g.152304356G>C | CA420926601 | FLG | c.10530C>G (p.Ser3510=) c.9109-523C>G (n.9109-523C>G) | |
1 | g.152304356G= | CA2479947403 | FLG | c.10530C= (p.Ser3510=) c.9109-523C= (n.9109-523C=) | |
1 | g.152304356G>T | CA420926602 | FLG | c.10530C>A (p.Ser3510=) c.9109-523C>A (n.9109-523C>A) | |
1 | g.152304357G>A | CA342069129 | FLG | c.10529C>T (p.Ser3510Phe) c.9109-524C>T (n.9109-524C>T) | dbSNP gnomAD v4 |
1 | g.152304357G>C | CA1103309 | FLG | c.10529C>G (p.Ser3510Cys) c.9109-524C>G (n.9109-524C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304357G= | CA2479947404 | FLG | c.10529C= (p.Ser3510=) c.9109-524C= (n.9109-524C=) | |
1 | g.152304357G>T | CA342069132 | FLG | c.10529C>A (p.Ser3510Tyr) c.9109-524C>A (n.9109-524C>A) | |
1 | g.152304358A>C | CA342069136 | FLG | c.10528T>G (p.Ser3510Ala) c.9109-525T>G (n.9109-525T>G) | |
1 | g.152304358A>G | CA342069144 | FLG | c.10528T>C (p.Ser3510Pro) c.9109-525T>C (n.9109-525T>C) | |
1 | g.152304358A>T | CA342069139 | FLG | c.10528T>A (p.Ser3510Thr) c.9109-525T>A (n.9109-525T>A) | |
1 | g.152304359A>C | CA420926607 | FLG | c.10527T>G (p.Ala3509=) c.9109-526T>G (n.9109-526T>G) | |
1 | g.152304359A>G | CA420926609 | FLG | c.10527T>C (p.Ala3509=) c.9109-526T>C (n.9109-526T>C) | |
1 | g.152304359A>T | CA420926611 | FLG | c.10527T>A (p.Ala3509=) c.9109-526T>A (n.9109-526T>A) | |
1 | g.152304360G>A | CA342069149 | FLG | c.10526C>T (p.Ala3509Val) c.9109-527C>T (n.9109-527C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304360G>C | CA342069151 | FLG | c.10526C>G (p.Ala3509Gly) c.9109-527C>G (n.9109-527C>G) | gnomAD v4 |
1 | g.152304360G= | CA2479947405 | FLG | c.10526C= (p.Ala3509=) c.9109-527C= (n.9109-527C=) | |
1 | g.152304360G>T | CA342069152 | FLG | c.10526C>A (p.Ala3509Asp) c.9109-527C>A (n.9109-527C>A) | |
1 | g.152304361C>A | CA342069157 | FLG | c.10525G>T (p.Ala3509Ser) c.9109-528G>T (n.9109-528G>T) | dbSNP gnomAD v4 |
1 | g.152304361C= | CA2479947406 | FLG | c.10525G= (p.Ala3509=) c.9109-528G= (n.9109-528G=) | |
1 | g.152304361C>G | CA342069160 | FLG | c.10525G>C (p.Ala3509Pro) c.9109-528G>C (n.9109-528G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304361C>T | CA342069162 | FLG | c.10525G>A (p.Ala3509Thr) c.9109-528G>A (n.9109-528G>A) | gnomAD v4 |
1 | g.152304362T>A | CA342069166 | FLG | c.10524A>T (p.Glu3508Asp) c.9109-529A>T (n.9109-529A>T) | |
1 | g.152304362T>C | CA1103310 | FLG | c.10524A>G (p.Glu3508=) c.9109-529A>G (n.9109-529A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304362T>G | CA342069167 | FLG | c.10524A>C (p.Glu3508Asp) c.9109-529A>C (n.9109-529A>C) | |
1 | g.152304362T= | CA1147312873 | FLG | c.10524A= (p.Glu3508=) c.9109-529A= (n.9109-529A=) | |
1 | g.152304363T>A | CA342069168 | FLG | c.10523A>T (p.Glu3508Val) c.9109-530A>T (n.9109-530A>T) | |
1 | g.152304363T>C | CA342069169 | FLG | c.10523A>G (p.Glu3508Gly) c.9109-530A>G (n.9109-530A>G) | |
1 | g.152304363T>G | CA342069172 | FLG | c.10523A>C (p.Glu3508Ala) c.9109-530A>C (n.9109-530A>C) | |
1 | g.152304364C>A | CA342069184 | FLG | c.10522G>T (p.Glu3508Ter) c.9109-531G>T (n.9109-531G>T) | |
1 | g.152304364C>G | CA342069180 | FLG | c.10522G>C (p.Glu3508Gln) c.9109-531G>C (n.9109-531G>C) | |
1 | g.152304364C>T | CA342069183 | FLG | c.10522G>A (p.Glu3508Lys) c.9109-531G>A (n.9109-531G>A) | COSMIC |
1 | g.152304365A= | CA2479947407 | FLG | c.10521T= (p.His3507=) c.9109-532T= (n.9109-532T=) | |
1 | g.152304365A>C | CA342069189 | FLG | c.10521T>G (p.His3507Gln) c.9109-532T>G (n.9109-532T>G) | |
1 | g.152304365A>G | CA420926616 | FLG | c.10521T>C (p.His3507=) c.9109-532T>C (n.9109-532T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304365A>T | CA342069195 | FLG | c.10521T>A (p.His3507Gln) c.9109-532T>A (n.9109-532T>A) | |
1 | g.152304366T>A | CA342069198 | FLG | c.10520A>T (p.His3507Leu) c.9109-533A>T (n.9109-533A>T) | |
1 | g.152304366T>C | CA342069201 | FLG | c.10520A>G (p.His3507Arg) c.9109-533A>G (n.9109-533A>G) | |
1 | g.152304366T>G | CA342069218 | FLG | c.10520A>C (p.His3507Pro) c.9109-533A>C (n.9109-533A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304366T= | CA2479947408 | FLG | c.10520A= (p.His3507=) c.9109-533A= (n.9109-533A=) | |
1 | g.152304367G>A | CA30600485 | FLG | c.10519C>T (p.His3507Tyr) c.9109-534C>T (n.9109-534C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304367G>C | CA342069227 | FLG | c.10519C>G (p.His3507Asp) c.9109-534C>G (n.9109-534C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304367G= | CA1144937993 | FLG | c.10519C= (p.His3507=) c.9109-534C= (n.9109-534C=) | |
1 | g.152304367G>T | CA342069230 | FLG | c.10519C>A (p.His3507Asn) c.9109-534C>A (n.9109-534C>A) | |
1 | g.152304368G>A | CA1103311 | FLG | c.10518C>T (p.His3506=) c.9109-535C>T (n.9109-535C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304368G>C | CA342069238 | FLG | c.10518C>G (p.His3506Gln) c.9109-535C>G (n.9109-535C>G) | |
1 | g.152304368G= | CA2479947409 | FLG | c.10518C= (p.His3506=) c.9109-535C= (n.9109-535C=) | |
1 | g.152304368G>T | CA1103312 | FLG | c.10518C>A (p.His3506Gln) c.9109-535C>A (n.9109-535C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |