Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304391A= | CA2479947419 | FLG | c.10495T= (p.Ser3499=) c.9109-558T= (n.9109-558T=) | |
1 | g.152304391A>C | CA342069464 | FLG | c.10495T>G (p.Ser3499Ala) c.9109-558T>G (n.9109-558T>G) | dbSNP |
1 | g.152304391A>G | CA342069465 | FLG | c.10495T>C (p.Ser3499Pro) c.9109-558T>C (n.9109-558T>C) | |
1 | g.152304391A>T | CA342069468 | FLG | c.10495T>A (p.Ser3499Thr) c.9109-558T>A (n.9109-558T>A) | gnomAD v4 |
1 | g.152304391_152304508del | CA2647993492 | FLG | c.10378_10495del (p.Ser3460ProfsTer?) c.9109-675_9109-558del (n.9109-675_9109-558del) | gnomAD v4 |
1 | g.152304392G>A | CA420926370 | FLG | c.10494C>T (p.Gly3498=) c.9109-559C>T (n.9109-559C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304392G>C | CA420926372 | FLG | c.10494C>G (p.Gly3498=) c.9109-559C>G (n.9109-559C>G) | |
1 | g.152304392G= | CA2479947420 | FLG | c.10494C= (p.Gly3498=) c.9109-559C= (n.9109-559C=) | |
1 | g.152304392G>T | CA420926369 | FLG | c.10494C>A (p.Gly3498=) c.9109-559C>A (n.9109-559C>A) | |
1 | g.152304393C>A | CA342069472 | FLG | c.10493G>T (p.Gly3498Val) c.9109-560G>T (n.9109-560G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304393C= | CA2479947421 | FLG | c.10493G= (p.Gly3498=) c.9109-560G= (n.9109-560G=) | |
1 | g.152304393C>G | CA342069473 | FLG | c.10493G>C (p.Gly3498Ala) c.9109-560G>C (n.9109-560G>C) | |
1 | g.152304393C>T | CA342069475 | FLG | c.10493G>A (p.Gly3498Asp) c.9109-560G>A (n.9109-560G>A) | gnomAD v4 |
1 | g.152304394C>A | CA1103325 | FLG | c.10492G>T (p.Gly3498Cys) c.9109-561G>T (n.9109-561G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304394C= | CA1142131190 | FLG | c.10492G= (p.Gly3498=) c.9109-561G= (n.9109-561G=) | |
1 | g.152304394C>G | CA342069486 | FLG | c.10492G>C (p.Gly3498Arg) c.9109-561G>C (n.9109-561G>C) | |
1 | g.152304394C>T | CA1103324 | FLG | c.10492G>A (p.Gly3498Ser) c.9109-561G>A (n.9109-561G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304395A= | CA1139987786 | FLG | c.10491T= (p.Asp3497=) c.9109-562T= (n.9109-562T=) | |
1 | g.152304395A>C | CA342069487 | FLG | c.10491T>G (p.Asp3497Glu) c.9109-562T>G (n.9109-562T>G) | |
1 | g.152304395A>G | CA1103326 | FLG | c.10491T>C (p.Asp3497=) c.9109-562T>C (n.9109-562T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304395A>T | CA342069489 | FLG | c.10491T>A (p.Asp3497Glu) c.9109-562T>A (n.9109-562T>A) | |
1 | g.152304396T>A | CA342069490 | FLG | c.10490A>T (p.Asp3497Val) c.9109-563A>T (n.9109-563A>T) | |
1 | g.152304396T>C | CA342069491 | FLG | c.10490A>G (p.Asp3497Gly) c.9109-563A>G (n.9109-563A>G) | |
1 | g.152304396T>G | CA342069492 | FLG | c.10490A>C (p.Asp3497Ala) c.9109-563A>C (n.9109-563A>C) | |
1 | g.152304397C>A | CA342069493 | FLG | c.10489G>T (p.Asp3497Tyr) c.9109-564G>T (n.9109-564G>T) | gnomAD v4 |
1 | g.152304397C= | CA1143451099 | FLG | c.10489G= (p.Asp3497=) c.9109-564G= (n.9109-564G=) | |
1 | g.152304397C>G | CA1103327 | FLG | c.10489G>C (p.Asp3497His) c.9109-564G>C (n.9109-564G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304397C>T | CA342069495 | FLG | c.10489G>A (p.Asp3497Asn) c.9109-564G>A (n.9109-564G>A) | dbSNP gnomAD v4 |
1 | g.152304398T>A | CA420926385 | FLG | c.10488A>T (p.Gly3496=) c.9109-565A>T (n.9109-565A>T) | |
1 | g.152304398T>C | CA420926387 | FLG | c.10488A>G (p.Gly3496=) c.9109-565A>G (n.9109-565A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304398T>G | CA420926386 | FLG | c.10488A>C (p.Gly3496=) c.9109-565A>C (n.9109-565A>C) | |
1 | g.152304398T= | CA2479947422 | FLG | c.10488A= (p.Gly3496=) c.9109-565A= (n.9109-565A=) | |
1 | g.152304399C>A | CA342069496 | FLG | c.10487G>T (p.Gly3496Val) c.9109-566G>T (n.9109-566G>T) | |
1 | g.152304399C= | CA1141535090 | FLG | c.10487G= (p.Gly3496=) c.9109-566G= (n.9109-566G=) | |
1 | g.152304399C>G | CA342069498 | FLG | c.10487G>C (p.Gly3496Ala) c.9109-566G>C (n.9109-566G>C) | |
1 | g.152304399C>T | CA1103328 | FLG | c.10487G>A (p.Gly3496Glu) c.9109-566G>A (n.9109-566G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304400C>A | CA342069513 | FLG | c.10486G>T (p.Gly3496Ter) c.9109-567G>T (n.9109-567G>T) | |
1 | g.152304400C>G | CA342069514 | FLG | c.10486G>C (p.Gly3496Arg) c.9109-567G>C (n.9109-567G>C) | |
1 | g.152304400C>T | CA342069508 | FLG | c.10486G>A (p.Gly3496Arg) c.9109-567G>A (n.9109-567G>A) | gnomAD v4 |
1 | g.152304401T>A | CA420926390 | FLG | c.10485A>T (p.Ser3495=) c.9109-568A>T (n.9109-568A>T) | |
1 | g.152304401T>C | CA420926391 | FLG | c.10485A>G (p.Ser3495=) c.9109-568A>G (n.9109-568A>G) | |
1 | g.152304401T>G | CA1103329 | FLG | c.10485A>C (p.Ser3495=) c.9109-568A>C (n.9109-568A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304401T= | CA1143441657 | FLG | c.10485A= (p.Ser3495=) c.9109-568A= (n.9109-568A=) | |
1 | g.152304402G>A | CA342069515 | FLG | c.10484C>T (p.Ser3495Leu) c.9109-569C>T (n.9109-569C>T) | COSMIC |
1 | g.152304402G>C | CA342069516 | FLG | c.10484C>G (p.Ser3495Ter) c.9109-569C>G (n.9109-569C>G) | |
1 | g.152304402G>T | CA342069519 | FLG | c.10484C>A (p.Ser3495Ter) c.9109-569C>A (n.9109-569C>A) | |
1 | g.152304403A= | CA2479947423 | FLG | c.10483T= (p.Ser3495=) c.9109-570T= (n.9109-570T=) | |
1 | g.152304403A>C | CA342069529 | FLG | c.10483T>G (p.Ser3495Ala) c.9109-570T>G (n.9109-570T>G) | |
1 | g.152304403A>G | CA342069525 | FLG | c.10483T>C (p.Ser3495Pro) c.9109-570T>C (n.9109-570T>C) | |
1 | g.152304403A>T | CA1103330 | FLG | c.10483T>A (p.Ser3495Thr) c.9109-570T>A (n.9109-570T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304404T>A | CA342069543 | FLG | c.10482A>T (p.Gln3494His) c.9109-571A>T (n.9109-571A>T) | |
1 | g.152304404T>C | CA1103331 | FLG | c.10482A>G (p.Gln3494=) c.9109-571A>G (n.9109-571A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304404T>G | CA342069555 | FLG | c.10482A>C (p.Gln3494His) c.9109-571A>C (n.9109-571A>C) | |
1 | g.152304404T= | CA1141733080 | FLG | c.10482A= (p.Gln3494=) c.9109-571A= (n.9109-571A=) | |
1 | g.152304405T>A | CA342069560 | FLG | c.10481A>T (p.Gln3494Leu) c.9109-572A>T (n.9109-572A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304405T>C | CA342069562 | FLG | c.10481A>G (p.Gln3494Arg) c.9109-572A>G (n.9109-572A>G) | |
1 | g.152304405T>G | CA342069564 | FLG | c.10481A>C (p.Gln3494Pro) c.9109-572A>C (n.9109-572A>C) | |
1 | g.152304405T= | CA2479947424 | FLG | c.10481A= (p.Gln3494=) c.9109-572A= (n.9109-572A=) | |
1 | g.152304406G>A | CA342069567 | FLG | c.10480C>T (p.Gln3494Ter) c.9109-573C>T (n.9109-573C>T) | gnomAD v4 COSMIC |
1 | g.152304406G>C | CA342069574 | FLG | c.10480C>G (p.Gln3494Glu) c.9109-573C>G (n.9109-573C>G) | |
1 | g.152304406G= | CA2479947425 | FLG | c.10480C= (p.Gln3494=) c.9109-573C= (n.9109-573C=) | |
1 | g.152304406G>T | CA342069571 | FLG | c.10480C>A (p.Gln3494Lys) c.9109-573C>A (n.9109-573C>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304407T>A | CA342069578 | FLG | c.10479A>T (p.Glu3493Asp) c.9109-574A>T (n.9109-574A>T) | |
1 | g.152304407T>C | CA420926405 | FLG | c.10479A>G (p.Glu3493=) c.9109-574A>G (n.9109-574A>G) | dbSNP gnomAD v4 |
1 | g.152304407T>G | CA342069587 | FLG | c.10479A>C (p.Glu3493Asp) c.9109-574A>C (n.9109-574A>C) | |
1 | g.152304407T= | CA2479947426 | FLG | c.10479A= (p.Glu3493=) c.9109-574A= (n.9109-574A=) | |
1 | g.152304408T>A | CA342069588 | FLG | c.10478A>T (p.Glu3493Val) c.9109-575A>T (n.9109-575A>T) | dbSNP |
1 | g.152304408T>C | CA342069590 | FLG | c.10478A>G (p.Glu3493Gly) c.9109-575A>G (n.9109-575A>G) | |
1 | g.152304408T>G | CA342069589 | FLG | c.10478A>C (p.Glu3493Ala) c.9109-575A>C (n.9109-575A>C) | |
1 | g.152304408T= | CA2479947427 | FLG | c.10478A= (p.Glu3493=) c.9109-575A= (n.9109-575A=) | |
1 | g.152304409C>A | CA342069592 | FLG | c.10477G>T (p.Glu3493Ter) c.9109-576G>T (n.9109-576G>T) | |
1 | g.152304409C= | CA1142026727 | FLG | c.10477G= (p.Glu3493=) c.9109-576G= (n.9109-576G=) | |
1 | g.152304409C>G | CA342069598 | FLG | c.10477G>C (p.Glu3493Gln) c.9109-576G>C (n.9109-576G>C) | |
1 | g.152304409C>T | CA1103332 | FLG | c.10477G>A (p.Glu3493Lys) c.9109-576G>A (n.9109-576G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304409_152304410insCTT | CA526662116 | FLG | c.10476_10477insAAG (p.Asp3492_Glu3493insLys) c.9109-577_9109-576insAAG (n.9109-577_9109-576insAAG) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304410G>A | CA1103333 | FLG | c.10476C>T (p.Asp3492=) c.9109-577C>T (n.9109-577C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304410G>C | CA1103334 | FLG | c.10476C>G (p.Asp3492Glu) c.9109-577C>G (n.9109-577C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304410G= | CA1142020920 | FLG | c.10476C= (p.Asp3492=) c.9109-577C= (n.9109-577C=) | |
1 | g.152304410G>T | CA342069599 | FLG | c.10476C>A (p.Asp3492Glu) c.9109-577C>A (n.9109-577C>A) | |
1 | g.152304411T>A | CA342069600 | FLG | c.10475A>T (p.Asp3492Val) c.9109-578A>T (n.9109-578A>T) | gnomAD v4 |
1 | g.152304411T>C | CA342069602 | FLG | c.10475A>G (p.Asp3492Gly) c.9109-578A>G (n.9109-578A>G) | COSMIC |
1 | g.152304411T>G | CA342069604 | FLG | c.10475A>C (p.Asp3492Ala) c.9109-578A>C (n.9109-578A>C) | |
1 | g.152304412C>A | CA342069612 | FLG | c.10474G>T (p.Asp3492Tyr) c.9109-579G>T (n.9109-579G>T) | dbSNP COSMIC |
1 | g.152304412C= | CA2479947428 | FLG | c.10474G= (p.Asp3492=) c.9109-579G= (n.9109-579G=) | |
1 | g.152304412C>G | CA342069616 | FLG | c.10474G>C (p.Asp3492His) c.9109-579G>C (n.9109-579G>C) | |
1 | g.152304412C>T | CA1103335 | FLG | c.10474G>A (p.Asp3492Asn) c.9109-579G>A (n.9109-579G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304413A= | CA1139987787 | FLG | c.10473T= (p.Asn3491=) c.9109-580T= (n.9109-580T=) | |
1 | g.152304413A>C | CA1103337 | FLG | c.10473T>G (p.Asn3491Lys) c.9109-580T>G (n.9109-580T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304413A>G | CA1103336 | FLG | c.10473T>C (p.Asn3491=) c.9109-580T>C (n.9109-580T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304413A>T | CA342069632 | FLG | c.10473T>A (p.Asn3491Lys) c.9109-580T>A (n.9109-580T>A) | |
1 | g.152304414T>A | CA342069636 | FLG | c.10472A>T (p.Asn3491Ile) c.9109-581A>T (n.9109-581A>T) | |
1 | g.152304414T>C | CA342069642 | FLG | c.10472A>G (p.Asn3491Ser) c.9109-581A>G (n.9109-581A>G) | |
1 | g.152304414T>G | CA342069640 | FLG | c.10472A>C (p.Asn3491Thr) c.9109-581A>C (n.9109-581A>C) | |
1 | g.152304414_152304417delinsTTAC | CA2479947429 | FLG | c.10469_10472delinsGTAA (p.Arg3490=) c.9109-584_9109-581delinsGTAA (n.9109-584_9109-581delinsGTAA) | |
1 | g.152304415T>A | CA342069646 | FLG | c.10471A>T (p.Asn3491Tyr) c.9109-582A>T (n.9109-582A>T) | |
1 | g.152304415T>C | CA342069651 | FLG | c.10471A>G (p.Asn3491Asp) c.9109-582A>G (n.9109-582A>G) | dbSNP |
1 | g.152304415T>G | CA342069655 | FLG | c.10471A>C (p.Asn3491His) c.9109-582A>C (n.9109-582A>C) | |
1 | g.152304415T= | CA2479947430 | FLG | c.10471A= (p.Asn3491=) c.9109-582A= (n.9109-582A=) | |
1 | g.152304415_152304417del | CA526662117 | FLG | c.10469_10471del (p.Arg3490_Asn3491delinsHis) c.9109-584_9109-582del (n.9109-584_9109-582del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304416A= | CA1148265405 | FLG | c.10470T= (p.Arg3490=) c.9109-583T= (n.9109-583T=) | |
1 | g.152304416A>C | CA420926425 | FLG | c.10470T>G (p.Arg3490=) c.9109-583T>G (n.9109-583T>G) | |
1 | g.152304416A>G | CA1103338 | FLG | c.10470T>C (p.Arg3490=) c.9109-583T>C (n.9109-583T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304416A>T | CA420926422 | FLG | c.10470T>A (p.Arg3490=) c.9109-583T>A (n.9109-583T>A) | |
1 | g.152304417C>A | CA342069664 | FLG | c.10469G>T (p.Arg3490Leu) c.9109-584G>T (n.9109-584G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304417C= | CA1143936861 | FLG | c.10469G= (p.Arg3490=) c.9109-584G= (n.9109-584G=) | |
1 | g.152304417C>G | CA1103340 | FLG | c.10469G>C (p.Arg3490Pro) c.9109-584G>C (n.9109-584G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304417C>T | CA1103339 | FLG | c.10469G>A (p.Arg3490His) c.9109-584G>A (n.9109-584G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304418G>A | CA1103341 | FLG | c.10468C>T (p.Arg3490Cys) c.9109-585C>T (n.9109-585C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304418G>C | CA342069677 | FLG | c.10468C>G (p.Arg3490Gly) c.9109-585C>G (n.9109-585C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304418G= | CA1141369372 | FLG | c.10468C= (p.Arg3490=) c.9109-585C= (n.9109-585C=) | |
1 | g.152304418G>T | CA342069678 | FLG | c.10468C>A (p.Arg3490Ser) c.9109-585C>A (n.9109-585C>A) | COSMIC |
1 | g.152304419A= | CA2479947431 | FLG | c.10467T= (p.Thr3489=) c.9109-586T= (n.9109-586T=) | |
1 | g.152304419A>C | CA420926429 | FLG | c.10467T>G (p.Thr3489=) c.9109-586T>G (n.9109-586T>G) | |
1 | g.152304419A>G | CA420926428 | FLG | c.10467T>C (p.Thr3489=) c.9109-586T>C (n.9109-586T>C) | dbSNP |
1 | g.152304419A>T | CA1103342 | FLG | c.10467T>A (p.Thr3489=) c.9109-586T>A (n.9109-586T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304420G>A | CA1103343 | FLG | c.10466C>T (p.Thr3489Ile) c.9109-587C>T (n.9109-587C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304420G>C | CA342069682 | FLG | c.10466C>G (p.Thr3489Ser) c.9109-587C>G (n.9109-587C>G) | |
1 | g.152304420G= | CA2479947432 | FLG | c.10466C= (p.Thr3489=) c.9109-587C= (n.9109-587C=) | |
1 | g.152304420G>T | CA342069684 | FLG | c.10466C>A (p.Thr3489Asn) c.9109-587C>A (n.9109-587C>A) | |
1 | g.152304421T>A | CA342069691 | FLG | c.10465A>T (p.Thr3489Ser) c.9109-588A>T (n.9109-588A>T) | |
1 | g.152304421T>C | CA342069701 | FLG | c.10465A>G (p.Thr3489Ala) c.9109-588A>G (n.9109-588A>G) | |
1 | g.152304421T>G | CA342069705 | FLG | c.10465A>C (p.Thr3489Pro) c.9109-588A>C (n.9109-588A>C) | |
1 | g.152304421T= | CA2479947433 | FLG | c.10465A= (p.Thr3489=) c.9109-588A= (n.9109-588A=) | |
1 | g.152304423del | CA2647993495 | FLG | c.10465del (p.Thr3489LeufsTer?) c.9109-588del (n.9109-588del) | gnomAD v4 |
1 | g.152304421_152304422insGAAC | CA1103344 | FLG | c.10464_10465insGTTC (p.Thr3489ValfsTer4) c.9109-589_9109-588insGTTC (n.9109-589_9109-588insGTTC) | dbSNP ExAC |
1 | g.152304422T>A | CA342069711 | FLG | c.10464A>T (p.Gln3488His) c.9109-589A>T (n.9109-589A>T) | |
1 | g.152304422T>C | CA420926436 | FLG | c.10464A>G (p.Gln3488=) c.9109-589A>G (n.9109-589A>G) | gnomAD v4 |
1 | g.152304422T>G | CA342069716 | FLG | c.10464A>C (p.Gln3488His) c.9109-589A>C (n.9109-589A>C) | |
1 | g.152304423T>A | CA342069721 | FLG | c.10463A>T (p.Gln3488Leu) c.9109-590A>T (n.9109-590A>T) | |
1 | g.152304423T>C | CA342069724 | FLG | c.10463A>G (p.Gln3488Arg) c.9109-590A>G (n.9109-590A>G) | |
1 | g.152304423T>G | CA342069726 | FLG | c.10463A>C (p.Gln3488Pro) c.9109-590A>C (n.9109-590A>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304423T= | CA2479947435 | FLG | c.10463A= (p.Gln3488=) c.9109-590A= (n.9109-590A=) | |
1 | g.152304423_152304424delinsTG | CA2479947434 | FLG | c.10462_10463delinsCA (p.Gln3488=) c.9109-591_9109-590delinsCA (n.9109-591_9109-590delinsCA) | |
1 | g.152304424del | CA526662118 | FLG | c.10462del (p.Gln3488LysfsTer?) c.9109-591del (n.9109-591del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304424G>A | CA342069733 | FLG | c.10462C>T (p.Gln3488Ter) c.9109-591C>T (n.9109-591C>T) | |
1 | g.152304424G>C | CA342069731 | FLG | c.10462C>G (p.Gln3488Glu) c.9109-591C>G (n.9109-591C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304424G= | CA1148481828 | FLG | c.10462C= (p.Gln3488=) c.9109-591C= (n.9109-591C=) | |
1 | g.152304424G>T | CA1103345 | FLG | c.10462C>A (p.Gln3488Lys) c.9109-591C>A (n.9109-591C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304425T>A | CA342069735 | FLG | c.10461A>T (p.Arg3487Ser) c.9109-592A>T (n.9109-592A>T) | |
1 | g.152304425T>C | CA420926442 | FLG | c.10461A>G (p.Arg3487=) c.9109-592A>G (n.9109-592A>G) | dbSNP gnomAD v2 |
1 | g.152304425T>G | CA342069738 | FLG | c.10461A>C (p.Arg3487Ser) c.9109-592A>C (n.9109-592A>C) | |
1 | g.152304425T= | CA2479947436 | FLG | c.10461A= (p.Arg3487=) c.9109-592A= (n.9109-592A=) | |
1 | g.152304426C>A | CA342069743 | FLG | c.10460G>T (p.Arg3487Ile) c.9109-593G>T (n.9109-593G>T) | |
1 | g.152304426C>G | CA342069746 | FLG | c.10460G>C (p.Arg3487Thr) c.9109-593G>C (n.9109-593G>C) | |
1 | g.152304426C>T | CA342069749 | FLG | c.10460G>A (p.Arg3487Lys) c.9109-593G>A (n.9109-593G>A) | gnomAD v4 |
1 | g.152304427T>A | CA342069752 | FLG | c.10459A>T (p.Arg3487Ter) c.9109-594A>T (n.9109-594A>T) | ClinVar dbSNP gnomAD v4 |
1 | g.152304427T>C | CA342069753 | FLG | c.10459A>G (p.Arg3487Gly) c.9109-594A>G (n.9109-594A>G) | |
1 | g.152304427T>G | CA420926448 | FLG | c.10459A>C (p.Arg3487=) c.9109-594A>C (n.9109-594A>C) | |
1 | g.152304427T= | CA2479947437 | FLG | c.10459A= (p.Arg3487=) c.9109-594A= (n.9109-594A=) | |
1 | g.152304428G>A | CA420926449 | FLG | c.10458C>T (p.Ser3486=) c.9109-595C>T (n.9109-595C>T) | gnomAD v4 |
1 | g.152304428G>C | CA342069754 | FLG | c.10458C>G (p.Ser3486Arg) c.9109-595C>G (n.9109-595C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304428G= | CA2479947438 | FLG | c.10458C= (p.Ser3486=) c.9109-595C= (n.9109-595C=) | |
1 | g.152304428G>T | CA342069755 | FLG | c.10458C>A (p.Ser3486Arg) c.9109-595C>A (n.9109-595C>A) | |
1 | g.152304429C>A | CA342069757 | FLG | c.10457G>T (p.Ser3486Ile) c.9109-596G>T (n.9109-596G>T) | |
1 | g.152304429C>G | CA342069760 | FLG | c.10457G>C (p.Ser3486Thr) c.9109-596G>C (n.9109-596G>C) | |
1 | g.152304429C>T | CA342069766 | FLG | c.10457G>A (p.Ser3486Asn) c.9109-596G>A (n.9109-596G>A) | |
1 | g.152304430T>A | CA342069771 | FLG | c.10456A>T (p.Ser3486Cys) c.9109-597A>T (n.9109-597A>T) | |
1 | g.152304430T>C | CA342069772 | FLG | c.10456A>G (p.Ser3486Gly) c.9109-597A>G (n.9109-597A>G) | |
1 | g.152304430T>G | CA342069770 | FLG | c.10456A>C (p.Ser3486Arg) c.9109-597A>C (n.9109-597A>C) | |
1 | g.152304431G>A | CA420926456 | FLG | c.10455C>T (p.Ala3485=) c.9109-598C>T (n.9109-598C>T) | |
1 | g.152304431G>C | CA420926457 | FLG | c.10455C>G (p.Ala3485=) c.9109-598C>G (n.9109-598C>G) | |
1 | g.152304431G= | CA1147975596 | FLG | c.10455C= (p.Ala3485=) c.9109-598C= (n.9109-598C=) | |
1 | g.152304431G>T | CA1103346 | FLG | c.10455C>A (p.Ala3485=) c.9109-598C>A (n.9109-598C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304432G>A | CA1103347 | FLG | c.10454C>T (p.Ala3485Val) c.9109-599C>T (n.9109-599C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304432G>C | CA342069776 | FLG | c.10454C>G (p.Ala3485Gly) c.9109-599C>G (n.9109-599C>G) | |
1 | g.152304432G= | CA1143391554 | FLG | c.10454C= (p.Ala3485=) c.9109-599C= (n.9109-599C=) | |
1 | g.152304432G>T | CA342069778 | FLG | c.10454C>A (p.Ala3485Asp) c.9109-599C>A (n.9109-599C>A) | gnomAD v4 |
1 | g.152304433C>A | CA342069779 | FLG | c.10453G>T (p.Ala3485Ser) c.9109-600G>T (n.9109-600G>T) | |
1 | g.152304433C>G | CA342069780 | FLG | c.10453G>C (p.Ala3485Pro) c.9109-600G>C (n.9109-600G>C) | |
1 | g.152304433C>T | CA342069782 | FLG | c.10453G>A (p.Ala3485Thr) c.9109-600G>A (n.9109-600G>A) | gnomAD v4 |
1 | g.152304434A= | CA2479947439 | FLG | c.10452T= (p.Ser3484=) c.9109-601T= (n.9109-601T=) | |
1 | g.152304434A>C | CA342069790 | FLG | c.10452T>G (p.Ser3484Arg) c.9109-601T>G (n.9109-601T>G) | |
1 | g.152304434A>G | CA420926463 | FLG | c.10452T>C (p.Ser3484=) c.9109-601T>C (n.9109-601T>C) | dbSNP |
1 | g.152304434A>T | CA342069786 | FLG | c.10452T>A (p.Ser3484Arg) c.9109-601T>A (n.9109-601T>A) | |
1 | g.152304435C>A | CA342069792 | FLG | c.10451G>T (p.Ser3484Ile) c.9109-602G>T (n.9109-602G>T) | |
1 | g.152304435C= | CA2479947440 | FLG | c.10451G= (p.Ser3484=) c.9109-602G= (n.9109-602G=) | |
1 | g.152304435C>G | CA342069793 | FLG | c.10451G>C (p.Ser3484Thr) c.9109-602G>C (n.9109-602G>C) | |
1 | g.152304435C>T | CA342069794 | FLG | c.10451G>A (p.Ser3484Asn) c.9109-602G>A (n.9109-602G>A) | dbSNP gnomAD v4 |
1 | g.152304436T>A | CA342069796 | FLG | c.10450A>T (p.Ser3484Cys) c.9109-603A>T (n.9109-603A>T) | |
1 | g.152304436T>C | CA342069798 | FLG | c.10450A>G (p.Ser3484Gly) c.9109-603A>G (n.9109-603A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304436T>G | CA342069800 | FLG | c.10450A>C (p.Ser3484Arg) c.9109-603A>C (n.9109-603A>C) | COSMIC |
1 | g.152304436T= | CA2479947441 | FLG | c.10450A= (p.Ser3484=) c.9109-603A= (n.9109-603A=) | |
1 | g.152304437T>A | CA342069807 | FLG | c.10449A>T (p.Arg3483Ser) c.9109-604A>T (n.9109-604A>T) | |
1 | g.152304437T>C | CA1103348 | FLG | c.10449A>G (p.Arg3483=) c.9109-604A>G (n.9109-604A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304437T>G | CA1103349 | FLG | c.10449A>C (p.Arg3483Ser) c.9109-604A>C (n.9109-604A>C) | dbSNP ExAC gnomAD v2 COSMIC |
1 | g.152304437T= | CA2479947442 | FLG | c.10449A= (p.Arg3483=) c.9109-604A= (n.9109-604A=) | |
1 | g.152304438C>A | CA342069832 | FLG | c.10448G>T (p.Arg3483Ile) c.9109-605G>T (n.9109-605G>T) | dbSNP |
1 | g.152304438C= | CA2479947443 | FLG | c.10448G= (p.Arg3483=) c.9109-605G= (n.9109-605G=) | |
1 | g.152304438C>G | CA342069833 | FLG | c.10448G>C (p.Arg3483Thr) c.9109-605G>C (n.9109-605G>C) | |
1 | g.152304438C>T | CA342069838 | FLG | c.10448G>A (p.Arg3483Lys) c.9109-605G>A (n.9109-605G>A) | |
1 | g.152304439T>A | CA342069847 | FLG | c.10447A>T (p.Arg3483Ter) c.9109-606A>T (n.9109-606A>T) | |
1 | g.152304439T>C | CA342069857 | FLG | c.10447A>G (p.Arg3483Gly) c.9109-606A>G (n.9109-606A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304439T>G | CA420926471 | FLG | c.10447A>C (p.Arg3483=) c.9109-606A>C (n.9109-606A>C) | |
1 | g.152304439T= | CA2479947444 | FLG | c.10447A= (p.Arg3483=) c.9109-606A= (n.9109-606A=) | |
1 | g.152304440G>A | CA420926473 | FLG | c.10446C>T (p.Ser3482=) c.9109-607C>T (n.9109-607C>T) | |
1 | g.152304440G>C | CA30600675 | FLG | c.10446C>G (p.Ser3482=) c.9109-607C>G (n.9109-607C>G) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304440G= | CA2479947445 | FLG | c.10446C= (p.Ser3482=) c.9109-607C= (n.9109-607C=) | |
1 | g.152304440G>T | CA420926475 | FLG | c.10446C>A (p.Ser3482=) c.9109-607C>A (n.9109-607C>A) | |
1 | g.152304441G>A | CA342069858 | FLG | c.10445C>T (p.Ser3482Phe) c.9109-608C>T (n.9109-608C>T) | |
1 | g.152304441G>C | CA342069859 | FLG | c.10445C>G (p.Ser3482Cys) c.9109-608C>G (n.9109-608C>G) | |
1 | g.152304441G>T | CA342069860 | FLG | c.10445C>A (p.Ser3482Tyr) c.9109-608C>A (n.9109-608C>A) | gnomAD v4 |
1 | g.152304442A>C | CA342069862 | FLG | c.10444T>G (p.Ser3482Ala) c.9109-609T>G (n.9109-609T>G) | |
1 | g.152304442A>G | CA342069865 | FLG | c.10444T>C (p.Ser3482Pro) c.9109-609T>C (n.9109-609T>C) | gnomAD v4 |
1 | g.152304442A>T | CA342069878 | FLG | c.10444T>A (p.Ser3482Thr) c.9109-609T>A (n.9109-609T>A) | |
1 | g.152304443T>A | CA420926481 | FLG | c.10443A>T (p.Gly3481=) c.9109-610A>T (n.9109-610A>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304443T>C | CA420926482 | FLG | c.10443A>G (p.Gly3481=) c.9109-610A>G (n.9109-610A>G) | gnomAD v4 |
1 | g.152304443T>G | CA420926483 | FLG | c.10443A>C (p.Gly3481=) c.9109-610A>C (n.9109-610A>C) | |
1 | g.152304443T= | CA2479947446 | FLG | c.10443A= (p.Gly3481=) c.9109-610A= (n.9109-610A=) | |
1 | g.152304444C>A | CA342069891 | FLG | c.10442G>T (p.Gly3481Val) c.9109-611G>T (n.9109-611G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304444C= | CA2479947447 | FLG | c.10442G= (p.Gly3481=) c.9109-611G= (n.9109-611G=) | |
1 | g.152304444C>G | CA342069887 | FLG | c.10442G>C (p.Gly3481Ala) c.9109-611G>C (n.9109-611G>C) | gnomAD v4 |
1 | g.152304444C>T | CA342069883 | FLG | c.10442G>A (p.Gly3481Glu) c.9109-611G>A (n.9109-611G>A) | gnomAD v4 COSMIC |
1 | g.152304445C>A | CA342069895 | FLG | c.10441G>T (p.Gly3481Ter) c.9109-612G>T (n.9109-612G>T) | |
1 | g.152304445C= | CA2479947448 | FLG | c.10441G= (p.Gly3481=) c.9109-612G= (n.9109-612G=) | |
1 | g.152304445C>G | CA342069897 | FLG | c.10441G>C (p.Gly3481Arg) c.9109-612G>C (n.9109-612G>C) | |
1 | g.152304445C>T | CA1103350 | FLG | c.10441G>A (p.Gly3481Arg) c.9109-612G>A (n.9109-612G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304446T>A | CA420926484 | FLG | c.10440A>T (p.Ser3480=) c.9109-613A>T (n.9109-613A>T) | |
1 | g.152304446T>C | CA420926485 | FLG | c.10440A>G (p.Ser3480=) c.9109-613A>G (n.9109-613A>G) | |
1 | g.152304446T>G | CA420926487 | FLG | c.10440A>C (p.Ser3480=) c.9109-613A>C (n.9109-613A>C) | |
1 | g.152304447del | CA2647993498 | FLG | c.10439del (p.Ser3480Ter) c.9109-614del (n.9109-614del) | gnomAD v4 |
1 | g.152304447G>A | CA342069903 | FLG | c.10439C>T (p.Ser3480Leu) c.9109-614C>T (n.9109-614C>T) | dbSNP |
1 | g.152304447G>C | CA342069908 | FLG | c.10439C>G (p.Ser3480Ter) c.9109-614C>G (n.9109-614C>G) | |
1 | g.152304447G= | CA2479947449 | FLG | c.10439C= (p.Ser3480=) c.9109-614C= (n.9109-614C=) | |
1 | g.152304447G>T | CA342069909 | FLG | c.10439C>A (p.Ser3480Ter) c.9109-614C>A (n.9109-614C>A) | dbSNP |
1 | g.152304448A>C | CA342069913 | FLG | c.10438T>G (p.Ser3480Ala) c.9109-615T>G (n.9109-615T>G) | |
1 | g.152304448A>G | CA342069910 | FLG | c.10438T>C (p.Ser3480Pro) c.9109-615T>C (n.9109-615T>C) | |
1 | g.152304448A>T | CA342069911 | FLG | c.10438T>A (p.Ser3480Thr) c.9109-615T>A (n.9109-615T>A) | |
1 | g.152304449C>A | CA342069918 | FLG | c.10437G>T (p.Gln3479His) c.9109-616G>T (n.9109-616G>T) | |
1 | g.152304449C= | CA2479947450 | FLG | c.10437G= (p.Gln3479=) c.9109-616G= (n.9109-616G=) | |
1 | g.152304449C>G | CA1103351 | FLG | c.10437G>C (p.Gln3479His) c.9109-616G>C (n.9109-616G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304449C>T | CA420926489 | FLG | c.10437G>A (p.Gln3479=) c.9109-616G>A (n.9109-616G>A) | dbSNP gnomAD v4 |
1 | g.152304450T>A | CA1103352 | FLG | c.10436A>T (p.Gln3479Leu) c.9109-617A>T (n.9109-617A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304450T>C | CA342069935 | FLG | c.10436A>G (p.Gln3479Arg) c.9109-617A>G (n.9109-617A>G) | |
1 | g.152304450T>G | CA342069938 | FLG | c.10436A>C (p.Gln3479Pro) c.9109-617A>C (n.9109-617A>C) | dbSNP gnomAD v4 |
1 | g.152304450T= | CA2479947451 | FLG | c.10436A= (p.Gln3479=) c.9109-617A= (n.9109-617A=) | |
1 | g.152304451G>A | CA342069942 | FLG | c.10435C>T (p.Gln3479Ter) c.9109-618C>T (n.9109-618C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304451G>C | CA342069949 | FLG | c.10435C>G (p.Gln3479Glu) c.9109-618C>G (n.9109-618C>G) | |
1 | g.152304451G= | CA2479947453 | FLG | c.10435C= (p.Gln3479=) c.9109-618C= (n.9109-618C=) | |
1 | g.152304451G>T | CA342069945 | FLG | c.10435C>A (p.Gln3479Lys) c.9109-618C>A (n.9109-618C>A) | |
1 | g.152304451_152304452delinsGC | CA2479947452 | FLG | c.10434_10435delinsGC (p.Gly3478=) c.9109-619_9109-618delinsGC (n.9109-619_9109-618delinsGC) | |
1 | g.152304452C>A | CA1103354 | FLG | c.10434G>T (p.Gly3478=) c.9109-619G>T (n.9109-619G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304452C= | CA1141067759 | FLG | c.10434G= (p.Gly3478=) c.9109-619G= (n.9109-619G=) | |
1 | g.152304452C>G | CA420926497 | FLG | c.10434G>C (p.Gly3478=) c.9109-619G>C (n.9109-619G>C) | |
1 | g.152304452C>T | CA420926496 | FLG | c.10434G>A (p.Gly3478=) c.9109-619G>A (n.9109-619G>A) | gnomAD v4 |
1 | g.152304454del | CA1103353 | FLG | c.10434del (p.Gln3479SerfsTer?) c.9109-619del (n.9109-619del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304453C>A | CA342069962 | FLG | c.10433G>T (p.Gly3478Val) c.9109-620G>T (n.9109-620G>T) | gnomAD v4 |
1 | g.152304453C= | CA2479947454 | FLG | c.10433G= (p.Gly3478=) c.9109-620G= (n.9109-620G=) | |
1 | g.152304453C>G | CA342069965 | FLG | c.10433G>C (p.Gly3478Ala) c.9109-620G>C (n.9109-620G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304453C>T | CA342069969 | FLG | c.10433G>A (p.Gly3478Glu) c.9109-620G>A (n.9109-620G>A) | gnomAD v4 |
1 | g.152304454C>A | CA30600716 | FLG | c.10432G>T (p.Gly3478Trp) c.9109-621G>T (n.9109-621G>T) | dbSNP gnomAD v4 |
1 | g.152304454C= | CA2479947455 | FLG | c.10432G= (p.Gly3478=) c.9109-621G= (n.9109-621G=) | |
1 | g.152304454C>G | CA342069975 | FLG | c.10432G>C (p.Gly3478Arg) c.9109-621G>C (n.9109-621G>C) | |
1 | g.152304454C>T | CA342069978 | FLG | c.10432G>A (p.Gly3478Arg) c.9109-621G>A (n.9109-621G>A) | gnomAD v4 |
1 | g.152304455A>C | CA420926504 | FLG | c.10431T>G (p.Arg3477=) c.9109-622T>G (n.9109-622T>G) | |
1 | g.152304455A>G | CA420926506 | FLG | c.10431T>C (p.Arg3477=) c.9109-622T>C (n.9109-622T>C) | |
1 | g.152304455A>T | CA420926505 | FLG | c.10431T>A (p.Arg3477=) c.9109-622T>A (n.9109-622T>A) | |
1 | g.152304455_152304456delinsAC | CA2479947456 | FLG | c.10430_10431delinsGT (p.Arg3477=) c.9109-623_9109-622delinsGT (n.9109-623_9109-622delinsGT) | |
1 | g.152304456del | CA916311161 | FLG | c.10430del (p.Arg3477LeufsTer?) c.9109-623del (n.9109-623del) | dbSNP gnomAD v4 |
1 | g.152304456C>A | CA342069981 | FLG | c.10430G>T (p.Arg3477Leu) c.9109-623G>T (n.9109-623G>T) | dbSNP gnomAD v4 |
1 | g.152304456C= | CA1143510672 | FLG | c.10430G= (p.Arg3477=) c.9109-623G= (n.9109-623G=) | |
1 | g.152304456C>G | CA342069982 | FLG | c.10430G>C (p.Arg3477Pro) c.9109-623G>C (n.9109-623G>C) | gnomAD v4 |
1 | g.152304456C>T | CA1103355 | FLG | c.10430G>A (p.Arg3477His) c.9109-623G>A (n.9109-623G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304457G>A | CA1103356 | FLG | c.10429C>T (p.Arg3477Cys) c.9109-624C>T (n.9109-624C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304457G>C | CA342069989 | FLG | c.10429C>G (p.Arg3477Gly) c.9109-624C>G (n.9109-624C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304457G= | CA2479947457 | FLG | c.10429C= (p.Arg3477=) c.9109-624C= (n.9109-624C=) | |
1 | g.152304457G>T | CA342069984 | FLG | c.10429C>A (p.Arg3477Ser) c.9109-624C>A (n.9109-624C>A) | |
1 | g.152304458G>A | CA1103357 | FLG | c.10428C>T (p.Ser3476=) c.9109-625C>T (n.9109-625C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304458G>C | CA420926510 | FLG | c.10428C>G (p.Ser3476=) c.9109-625C>G (n.9109-625C>G) | |
1 | g.152304458G= | CA2479947458 | FLG | c.10428C= (p.Ser3476=) c.9109-625C= (n.9109-625C=) | |
1 | g.152304458G>T | CA420926512 | FLG | c.10428C>A (p.Ser3476=) c.9109-625C>A (n.9109-625C>A) | |
1 | g.152304459G>A | CA342070001 | FLG | c.10427C>T (p.Ser3476Phe) c.9109-626C>T (n.9109-626C>T) | |
1 | g.152304459G>C | CA342069996 | FLG | c.10427C>G (p.Ser3476Cys) c.9109-626C>G (n.9109-626C>G) | |
1 | g.152304459G>T | CA342069998 | FLG | c.10427C>A (p.Ser3476Tyr) c.9109-626C>A (n.9109-626C>A) | |
1 | g.152304460A= | CA2479947459 | FLG | c.10426T= (p.Ser3476=) c.9109-627T= (n.9109-627T=) | |
1 | g.152304460A>C | CA342070005 | FLG | c.10426T>G (p.Ser3476Ala) c.9109-627T>G (n.9109-627T>G) | gnomAD v4 |
1 | g.152304460A>G | CA342070007 | FLG | c.10426T>C (p.Ser3476Pro) c.9109-627T>C (n.9109-627T>C) | dbSNP |
1 | g.152304460A>T | CA342070013 | FLG | c.10426T>A (p.Ser3476Thr) c.9109-627T>A (n.9109-627T>A) | |
1 | g.152304461G>A | CA1103358 | FLG | c.10425C>T (p.Ala3475=) c.9109-628C>T (n.9109-628C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304461G>C | CA420926526 | FLG | c.10425C>G (p.Ala3475=) c.9109-628C>G (n.9109-628C>G) | gnomAD v4 |
1 | g.152304461G= | CA2479947460 | FLG | c.10425C= (p.Ala3475=) c.9109-628C= (n.9109-628C=) | |
1 | g.152304461G>T | CA420926522 | FLG | c.10425C>A (p.Ala3475=) c.9109-628C>A (n.9109-628C>A) | |
1 | g.152304462G>A | CA1103359 | FLG | c.10424C>T (p.Ala3475Val) c.9109-629C>T (n.9109-629C>T) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.152304462G>C | CA342070029 | FLG | c.10424C>G (p.Ala3475Gly) c.9109-629C>G (n.9109-629C>G) | |
1 | g.152304462G= | CA2479947461 | FLG | c.10424C= (p.Ala3475=) c.9109-629C= (n.9109-629C=) | |
1 | g.152304462G>T | CA342070031 | FLG | c.10424C>A (p.Ala3475Asp) c.9109-629C>A (n.9109-629C>A) | |
1 | g.152304463C>A | CA342070041 | FLG | c.10423G>T (p.Ala3475Ser) c.9109-630G>T (n.9109-630G>T) | |
1 | g.152304463C>G | CA342070042 | FLG | c.10423G>C (p.Ala3475Pro) c.9109-630G>C (n.9109-630G>C) | |
1 | g.152304463C>T | CA342070047 | FLG | c.10423G>A (p.Ala3475Thr) c.9109-630G>A (n.9109-630G>A) | |
1 | g.152304464A>C | CA342070051 | FLG | c.10422T>G (p.Asp3474Glu) c.9109-631T>G (n.9109-631T>G) | |
1 | g.152304464A>G | CA420926532 | FLG | c.10422T>C (p.Asp3474=) c.9109-631T>C (n.9109-631T>C) | |
1 | g.152304464A>T | CA342070054 | FLG | c.10422T>A (p.Asp3474Glu) c.9109-631T>A (n.9109-631T>A) | |
1 | g.152304465T>A | CA1103360 | FLG | c.10421A>T (p.Asp3474Val) c.9109-632A>T (n.9109-632A>T) | dbSNP ExAC gnomAD v2 |
1 | g.152304465T>C | CA342070065 | FLG | c.10421A>G (p.Asp3474Gly) c.9109-632A>G (n.9109-632A>G) | |
1 | g.152304465T>G | CA342070063 | FLG | c.10421A>C (p.Asp3474Ala) c.9109-632A>C (n.9109-632A>C) | |
1 | g.152304465T= | CA1148417741 | FLG | c.10421A= (p.Asp3474=) c.9109-632A= (n.9109-632A=) | |
1 | g.152304466C>A | CA342070068 | FLG | c.10420G>T (p.Asp3474Tyr) c.9109-633G>T (n.9109-633G>T) | |
1 | g.152304466C>G | CA342070070 | FLG | c.10420G>C (p.Asp3474His) c.9109-633G>C (n.9109-633G>C) | COSMIC |
1 | g.152304466C>T | CA342070073 | FLG | c.10420G>A (p.Asp3474Asn) c.9109-633G>A (n.9109-633G>A) | COSMIC |
1 | g.152304467A>C | CA420926537 | FLG | c.10419T>G (p.Ser3473=) c.9109-634T>G (n.9109-634T>G) | gnomAD v4 |
1 | g.152304467A>G | CA420926539 | FLG | c.10419T>C (p.Ser3473=) c.9109-634T>C (n.9109-634T>C) | |
1 | g.152304467A>T | CA420926540 | FLG | c.10419T>A (p.Ser3473=) c.9109-634T>A (n.9109-634T>A) | |
1 | g.152304468G>A | CA342070076 | FLG | c.10418C>T (p.Ser3473Phe) c.9109-635C>T (n.9109-635C>T) | |
1 | g.152304468G>C | CA342070077 | FLG | c.10418C>G (p.Ser3473Cys) c.9109-635C>G (n.9109-635C>G) | dbSNP |
1 | g.152304468G= | CA2479947462 | FLG | c.10418C= (p.Ser3473=) c.9109-635C= (n.9109-635C=) | |
1 | g.152304468G>T | CA342070081 | FLG | c.10418C>A (p.Ser3473Tyr) c.9109-635C>A (n.9109-635C>A) | |
1 | g.152304469A>C | CA342070084 | FLG | c.10417T>G (p.Ser3473Ala) c.9109-636T>G (n.9109-636T>G) | |
1 | g.152304469A>G | CA342070085 | FLG | c.10417T>C (p.Ser3473Pro) c.9109-636T>C (n.9109-636T>C) | |
1 | g.152304469A>T | CA342070086 | FLG | c.10417T>A (p.Ser3473Thr) c.9109-636T>A (n.9109-636T>A) | |
1 | g.152304470C>A | CA342070087 | FLG | c.10416G>T (p.Arg3472Ser) c.9109-637G>T (n.9109-637G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304470C= | CA2479947463 | FLG | c.10416G= (p.Arg3472=) c.9109-637G= (n.9109-637G=) | |
1 | g.152304470C>G | CA342070088 | FLG | c.10416G>C (p.Arg3472Ser) c.9109-637G>C (n.9109-637G>C) | dbSNP |
1 | g.152304470C>T | CA420926547 | FLG | c.10416G>A (p.Arg3472=) c.9109-637G>A (n.9109-637G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304471del | CA420926549 | FLG | c.10416del (p.Arg3472SerfsTer?) c.9109-637del (n.9109-637del) | COSMIC |
1 | g.152304471C>A | CA342070089 | FLG | c.10415G>T (p.Arg3472Met) c.9109-638G>T (n.9109-638G>T) | gnomAD v4 |
1 | g.152304471C= | CA1144270088 | FLG | c.10415G= (p.Arg3472=) c.9109-638G= (n.9109-638G=) | |
1 | g.152304471C>G | CA342070092 | FLG | c.10415G>C (p.Arg3472Thr) c.9109-638G>C (n.9109-638G>C) | |
1 | g.152304471C>T | CA1103361 | FLG | c.10415G>A (p.Arg3472Lys) c.9109-638G>A (n.9109-638G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304472T>A | CA342070094 | FLG | c.10414A>T (p.Arg3472Trp) c.9109-639A>T (n.9109-639A>T) | |
1 | g.152304472T>C | CA342070103 | FLG | c.10414A>G (p.Arg3472Gly) c.9109-639A>G (n.9109-639A>G) | |
1 | g.152304472T>G | CA420926552 | FLG | c.10414A>C (p.Arg3472=) c.9109-639A>C (n.9109-639A>C) | |
1 | g.152304473T>A | CA420926553 | FLG | c.10413A>T (p.Gly3471=) c.9109-640A>T (n.9109-640A>T) | gnomAD v4 |
1 | g.152304473T>C | CA420926555 | FLG | c.10413A>G (p.Gly3471=) c.9109-640A>G (n.9109-640A>G) | |
1 | g.152304473T>G | CA420926557 | FLG | c.10413A>C (p.Gly3471=) c.9109-640A>C (n.9109-640A>C) | |
1 | g.152304474C>A | CA342070110 | FLG | c.10412G>T (p.Gly3471Val) c.9109-641G>T (n.9109-641G>T) | gnomAD v4 COSMIC |
1 | g.152304474C= | CA2479947464 | FLG | c.10412G= (p.Gly3471=) c.9109-641G= (n.9109-641G=) | |
1 | g.152304474C>G | CA342070112 | FLG | c.10412G>C (p.Gly3471Ala) c.9109-641G>C (n.9109-641G>C) | |
1 | g.152304474C>T | CA342070117 | FLG | c.10412G>A (p.Gly3471Glu) c.9109-641G>A (n.9109-641G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304476del | CA2574057963 | FLG | c.10412del (p.Gly3471GlufsTer?) c.9109-641del (n.9109-641del) | |
1 | g.152304475C>A | CA342070124 | FLG | c.10411G>T (p.Gly3471Ter) c.9109-642G>T (n.9109-642G>T) | |
1 | g.152304475C>G | CA342070131 | FLG | c.10411G>C (p.Gly3471Arg) c.9109-642G>C (n.9109-642G>C) | |
1 | g.152304475C>T | CA342070133 | FLG | c.10411G>A (p.Gly3471Arg) c.9109-642G>A (n.9109-642G>A) | |
1 | g.152304476C>A | CA342070142 | FLG | c.10410G>T (p.Gln3470His) c.9109-643G>T (n.9109-643G>T) | |
1 | g.152304476C>G | CA342070144 | FLG | c.10410G>C (p.Gln3470His) c.9109-643G>C (n.9109-643G>C) | |
1 | g.152304476C>T | CA420926559 | FLG | c.10410G>A (p.Gln3470=) c.9109-643G>A (n.9109-643G>A) | |
1 | g.152304477T>A | CA342070146 | FLG | c.10409A>T (p.Gln3470Leu) c.9109-644A>T (n.9109-644A>T) | |
1 | g.152304477T>C | CA342070150 | FLG | c.10409A>G (p.Gln3470Arg) c.9109-644A>G (n.9109-644A>G) | |
1 | g.152304477T>G | CA342070151 | FLG | c.10409A>C (p.Gln3470Pro) c.9109-644A>C (n.9109-644A>C) | |
1 | g.152304478G>A | CA342070154 | FLG | c.10408C>T (p.Gln3470Ter) c.9109-645C>T (n.9109-645C>T) | |
1 | g.152304478G>C | CA342070158 | FLG | c.10408C>G (p.Gln3470Glu) c.9109-645C>G (n.9109-645C>G) | |
1 | g.152304478G>T | CA342070157 | FLG | c.10408C>A (p.Gln3470Lys) c.9109-645C>A (n.9109-645C>A) | |
1 | g.152304480del | CA2647993499 | FLG | c.10408del (p.Gln3470ArgfsTer?) c.9109-645del (n.9109-645del) | gnomAD v4 |
1 | g.152304479G>A | CA420926561 | FLG | c.10407C>T (p.Ser3469=) c.9109-646C>T (n.9109-646C>T) | gnomAD v4 |
1 | g.152304479G>C | CA1103362 | FLG | c.10407C>G (p.Ser3469=) c.9109-646C>G (n.9109-646C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304479G= | CA2479947465 | FLG | c.10407C= (p.Ser3469=) c.9109-646C= (n.9109-646C=) | |
1 | g.152304479G>T | CA420926562 | FLG | c.10407C>A (p.Ser3469=) c.9109-646C>A (n.9109-646C>A) | |
1 | g.152304480G>A | CA342070164 | FLG | c.10406C>T (p.Ser3469Phe) c.9109-647C>T (n.9109-647C>T) | dbSNP gnomAD v4 |
1 | g.152304480G>C | CA342070167 | FLG | c.10406C>G (p.Ser3469Cys) c.9109-647C>G (n.9109-647C>G) | |
1 | g.152304480G= | CA2479947466 | FLG | c.10406C= (p.Ser3469=) c.9109-647C= (n.9109-647C=) | |
1 | g.152304480G>T | CA342070168 | FLG | c.10406C>A (p.Ser3469Tyr) c.9109-647C>A (n.9109-647C>A) | COSMIC |
1 | g.152304481A>C | CA342070169 | FLG | c.10405T>G (p.Ser3469Ala) c.9109-648T>G (n.9109-648T>G) | |
1 | g.152304481A>G | CA342070172 | FLG | c.10405T>C (p.Ser3469Pro) c.9109-648T>C (n.9109-648T>C) | |
1 | g.152304481A>T | CA342070176 | FLG | c.10405T>A (p.Ser3469Thr) c.9109-648T>A (n.9109-648T>A) | |
1 | g.152304482T>A | CA420926568 | FLG | c.10404A>T (p.Thr3468=) c.9109-649A>T (n.9109-649A>T) | |
1 | g.152304482T>C | CA420926569 | FLG | c.10404A>G (p.Thr3468=) c.9109-649A>G (n.9109-649A>G) | dbSNP |
1 | g.152304482T>G | CA420926570 | FLG | c.10404A>C (p.Thr3468=) c.9109-649A>C (n.9109-649A>C) | dbSNP |
1 | g.152304482T= | CA2479947467 | FLG | c.10404A= (p.Thr3468=) c.9109-649A= (n.9109-649A=) | |
1 | g.152304483G>A | CA1103363 | FLG | c.10403C>T (p.Thr3468Ile) c.9109-650C>T (n.9109-650C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304483G>C | CA342070177 | FLG | c.10403C>G (p.Thr3468Arg) c.9109-650C>G (n.9109-650C>G) | |
1 | g.152304483G= | CA1148569023 | FLG | c.10403C= (p.Thr3468=) c.9109-650C= (n.9109-650C=) | |
1 | g.152304483G>T | CA342070178 | FLG | c.10403C>A (p.Thr3468Lys) c.9109-650C>A (n.9109-650C>A) | |
1 | g.152304484T>A | CA342070181 | FLG | c.10402A>T (p.Thr3468Ser) c.9109-651A>T (n.9109-651A>T) | |
1 | g.152304484T>C | CA342070182 | FLG | c.10402A>G (p.Thr3468Ala) c.9109-651A>G (n.9109-651A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304484T>G | CA342070180 | FLG | c.10402A>C (p.Thr3468Pro) c.9109-651A>C (n.9109-651A>C) | gnomAD v4 |
1 | g.152304484T= | CA2479947468 | FLG | c.10402A= (p.Thr3468=) c.9109-651A= (n.9109-651A=) | |
1 | g.152304485G>A | CA420926575 | FLG | c.10401C>T (p.Thr3467=) c.9109-652C>T (n.9109-652C>T) | |
1 | g.152304485G>C | CA420926576 | FLG | c.10401C>G (p.Thr3467=) c.9109-652C>G (n.9109-652C>G) | COSMIC |
1 | g.152304485G>T | CA420926574 | FLG | c.10401C>A (p.Thr3467=) c.9109-652C>A (n.9109-652C>A) | |
1 | g.152304486G>A | CA342070187 | FLG | c.10400C>T (p.Thr3467Ile) c.9109-653C>T (n.9109-653C>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304486G>C | CA342070185 | FLG | c.10400C>G (p.Thr3467Ser) c.9109-653C>G (n.9109-653C>G) | |
1 | g.152304486G= | CA2479947469 | FLG | c.10400C= (p.Thr3467=) c.9109-653C= (n.9109-653C=) | |
1 | g.152304486G>T | CA1103364 | FLG | c.10400C>A (p.Thr3467Asn) c.9109-653C>A (n.9109-653C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304487T>A | CA1103365 | FLG | c.10399A>T (p.Thr3467Ser) c.9109-654A>T (n.9109-654A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304487T>C | CA1103366 | FLG | c.10399A>G (p.Thr3467Ala) c.9109-654A>G (n.9109-654A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304487T>G | CA342070190 | FLG | c.10399A>C (p.Thr3467Pro) c.9109-654A>C (n.9109-654A>C) | gnomAD v4 |
1 | g.152304487T= | CA2479947470 | FLG | c.10399A= (p.Thr3467=) c.9109-654A= (n.9109-654A=) | |
1 | g.152304488del | CA2574057964 | FLG | c.10398del (p.His3466GlnfsTer?) c.9109-655del (n.9109-655del) | |
1 | g.152304488G>A | CA420926582 | FLG | c.10398C>T (p.His3466=) c.9109-655C>T (n.9109-655C>T) | |
1 | g.152304488G>C | CA342070191 | FLG | c.10398C>G (p.His3466Gln) c.9109-655C>G (n.9109-655C>G) | |
1 | g.152304488G>T | CA342070193 | FLG | c.10398C>A (p.His3466Gln) c.9109-655C>A (n.9109-655C>A) | |
1 | g.152304489T>A | CA342070196 | FLG | c.10397A>T (p.His3466Leu) c.9109-656A>T (n.9109-656A>T) | gnomAD v4 |
1 | g.152304489T>C | CA342070197 | FLG | c.10397A>G (p.His3466Arg) c.9109-656A>G (n.9109-656A>G) | |
1 | g.152304489T>G | CA342070198 | FLG | c.10397A>C (p.His3466Pro) c.9109-656A>C (n.9109-656A>C) | |
1 | g.152304490G>A | CA342070199 | FLG | c.10396C>T (p.His3466Tyr) c.9109-657C>T (n.9109-657C>T) | |
1 | g.152304490G>C | CA342070200 | FLG | c.10396C>G (p.His3466Asp) c.9109-657C>G (n.9109-657C>G) | |
1 | g.152304490G= | CA2479947471 | FLG | c.10396C= (p.His3466=) c.9109-657C= (n.9109-657C=) | |
1 | g.152304490G>T | CA1103367 | FLG | c.10396C>A (p.His3466Asn) c.9109-657C>A (n.9109-657C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304491G>A | CA420926588 | FLG | c.10395C>T (p.Ser3465=) c.9109-658C>T (n.9109-658C>T) | gnomAD v4 |
1 | g.152304491G>C | CA342070213 | FLG | c.10395C>G (p.Ser3465Arg) c.9109-658C>G (n.9109-658C>G) | |
1 | g.152304491G>T | CA342070204 | FLG | c.10395C>A (p.Ser3465Arg) c.9109-658C>A (n.9109-658C>A) | COSMIC |