Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152304538_152304642del | CA1103390 | FLG | c.10251_10355del (p.Ala3418_Gln3452del) c.9109-802_9109-698del (n.9109-802_9109-698del) | ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304573_152304653del | CA2604727345 | FLG | c.10233_10313del (p.Gly3412_Pro3438del) c.9109-820_9109-740del (n.9109-820_9109-740del) | gnomAD v3 gnomAD v4 |
1 | g.152304593C>A | CA342071135 | FLG | c.10293G>T (p.Gln3431His) c.9109-760G>T (n.9109-760G>T) | |
1 | g.152304593C= | CA2479947522 | FLG | c.10293G= (p.Gln3431=) c.9109-760G= (n.9109-760G=) | |
1 | g.152304593C>G | CA342071139 | FLG | c.10293G>C (p.Gln3431His) c.9109-760G>C (n.9109-760G>C) | |
1 | g.152304593C>T | CA420926906 | FLG | c.10293G>A (p.Gln3431=) c.9109-760G>A (n.9109-760G>A) | dbSNP |
1 | g.152304594del | CA2558206033 | FLG | c.10292del (p.Gln3431ArgfsTer24) c.9109-761del (n.9109-761del) | |
1 | g.152304594T>A | CA342071141 | FLG | c.10292A>T (p.Gln3431Leu) c.9109-761A>T (n.9109-761A>T) | |
1 | g.152304594T>C | CA342071152 | FLG | c.10292A>G (p.Gln3431Arg) c.9109-761A>G (n.9109-761A>G) | |
1 | g.152304594T>G | CA30601176 | FLG | c.10292A>C (p.Gln3431Pro) c.9109-761A>C (n.9109-761A>C) | dbSNP |
1 | g.152304594T= | CA2479947523 | FLG | c.10292A= (p.Gln3431=) c.9109-761A= (n.9109-761A=) | |
1 | g.152304595G>A | CA342071162 | FLG | c.10291C>T (p.Gln3431Ter) c.9109-762C>T (n.9109-762C>T) | COSMIC |
1 | g.152304595G>C | CA342071165 | FLG | c.10291C>G (p.Gln3431Glu) c.9109-762C>G (n.9109-762C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304595G= | CA1145601446 | FLG | c.10291C= (p.Gln3431=) c.9109-762C= (n.9109-762C=) | |
1 | g.152304595G>T | CA1103430 | FLG | c.10291C>A (p.Gln3431Lys) c.9109-762C>A (n.9109-762C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304596A= | CA2479947524 | FLG | c.10290T= (p.Gly3430=) c.9109-763T= (n.9109-763T=) | |
1 | g.152304596A>C | CA420926908 | FLG | c.10290T>G (p.Gly3430=) c.9109-763T>G (n.9109-763T>G) | |
1 | g.152304596A>G | CA1103431 | FLG | c.10290T>C (p.Gly3430=) c.9109-763T>C (n.9109-763T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304596A>T | CA420926907 | FLG | c.10290T>A (p.Gly3430=) c.9109-763T>A (n.9109-763T>A) | |
1 | g.152304597C>A | CA342071174 | FLG | c.10289G>T (p.Gly3430Val) c.9109-764G>T (n.9109-764G>T) | gnomAD v4 |
1 | g.152304597C>G | CA342071176 | FLG | c.10289G>C (p.Gly3430Ala) c.9109-764G>C (n.9109-764G>C) | |
1 | g.152304597C>T | CA342071180 | FLG | c.10289G>A (p.Gly3430Asp) c.9109-764G>A (n.9109-764G>A) | gnomAD v4 |
1 | g.152304598C>A | CA342071190 | FLG | c.10288G>T (p.Gly3430Cys) c.9109-765G>T (n.9109-765G>T) | gnomAD v3 gnomAD v4 |
1 | g.152304598C= | CA2479947525 | FLG | c.10288G= (p.Gly3430=) c.9109-765G= (n.9109-765G=) | |
1 | g.152304598C>G | CA342071192 | FLG | c.10288G>C (p.Gly3430Arg) c.9109-765G>C (n.9109-765G>C) | dbSNP gnomAD v4 |
1 | g.152304598C>T | CA342071197 | FLG | c.10288G>A (p.Gly3430Ser) c.9109-765G>A (n.9109-765G>A) | gnomAD v4 |
1 | g.152304599C>A | CA342071206 | FLG | c.10287G>T (p.Glu3429Asp) c.9109-766G>T (n.9109-766G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304599C= | CA2479947526 | FLG | c.10287G= (p.Glu3429=) c.9109-766G= (n.9109-766G=) | |
1 | g.152304599C>G | CA1103432 | FLG | c.10287G>C (p.Glu3429Asp) c.9109-766G>C (n.9109-766G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304599C>T | CA1103433 | FLG | c.10287G>A (p.Glu3429=) c.9109-766G>A (n.9109-766G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304600T>A | CA342071226 | FLG | c.10286A>T (p.Glu3429Val) c.9109-767A>T (n.9109-767A>T) | |
1 | g.152304600T>C | CA342071224 | FLG | c.10286A>G (p.Glu3429Gly) c.9109-767A>G (n.9109-767A>G) | |
1 | g.152304600T>G | CA342071220 | FLG | c.10286A>C (p.Glu3429Ala) c.9109-767A>C (n.9109-767A>C) | |
1 | g.152304601C>A | CA1103434 | FLG | c.10285G>T (p.Glu3429Ter) c.9109-768G>T (n.9109-768G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304601C= | CA2479947527 | FLG | c.10285G= (p.Glu3429=) c.9109-768G= (n.9109-768G=) | |
1 | g.152304601C>G | CA342071237 | FLG | c.10285G>C (p.Glu3429Gln) c.9109-768G>C (n.9109-768G>C) | |
1 | g.152304601C>T | CA342071242 | FLG | c.10285G>A (p.Glu3429Lys) c.9109-768G>A (n.9109-768G>A) | |
1 | g.152304602T>A | CA342071246 | FLG | c.10284A>T (p.Gln3428His) c.9109-769A>T (n.9109-769A>T) | |
1 | g.152304602T>C | CA420926909 | FLG | c.10284A>G (p.Gln3428=) c.9109-769A>G (n.9109-769A>G) | gnomAD v4 |
1 | g.152304602T>G | CA342071253 | FLG | c.10284A>C (p.Gln3428His) c.9109-769A>C (n.9109-769A>C) | gnomAD v4 |
1 | g.152304603T>A | CA342071273 | FLG | c.10283A>T (p.Gln3428Leu) c.9109-770A>T (n.9109-770A>T) | |
1 | g.152304603T>C | CA342071261 | FLG | c.10283A>G (p.Gln3428Arg) c.9109-770A>G (n.9109-770A>G) | |
1 | g.152304603T>G | CA342071258 | FLG | c.10283A>C (p.Gln3428Pro) c.9109-770A>C (n.9109-770A>C) | |
1 | g.152304604G>A | CA342071276 | FLG | c.10282C>T (p.Gln3428Ter) c.9109-771C>T (n.9109-771C>T) | |
1 | g.152304604G>C | CA342071280 | FLG | c.10282C>G (p.Gln3428Glu) c.9109-771C>G (n.9109-771C>G) | |
1 | g.152304604G>T | CA342071284 | FLG | c.10282C>A (p.Gln3428Lys) c.9109-771C>A (n.9109-771C>A) | gnomAD v4 |
1 | g.152304605G>A | CA420926910 | FLG | c.10281C>T (p.Ser3427=) c.9109-772C>T (n.9109-772C>T) | |
1 | g.152304605G>C | CA420926911 | FLG | c.10281C>G (p.Ser3427=) c.9109-772C>G (n.9109-772C>G) | |
1 | g.152304605G>T | CA420926912 | FLG | c.10281C>A (p.Ser3427=) c.9109-772C>A (n.9109-772C>A) | |
1 | g.152304606G>A | CA342071291 | FLG | c.10280C>T (p.Ser3427Phe) c.9109-773C>T (n.9109-773C>T) | |
1 | g.152304606G>C | CA342071294 | FLG | c.10280C>G (p.Ser3427Cys) c.9109-773C>G (n.9109-773C>G) | |
1 | g.152304606G>T | CA342071299 | FLG | c.10280C>A (p.Ser3427Tyr) c.9109-773C>A (n.9109-773C>A) | |
1 | g.152304607A>C | CA342071300 | FLG | c.10279T>G (p.Ser3427Ala) c.9109-774T>G (n.9109-774T>G) | |
1 | g.152304607A>G | CA342071302 | FLG | c.10279T>C (p.Ser3427Pro) c.9109-774T>C (n.9109-774T>C) | |
1 | g.152304607A>T | CA342071301 | FLG | c.10279T>A (p.Ser3427Thr) c.9109-774T>A (n.9109-774T>A) | |
1 | g.152304608C>A | CA1103436 | FLG | c.10278G>T (p.Ala3426=) c.9109-775G>T (n.9109-775G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304608C= | CA1142144895 | FLG | c.10278G= (p.Ala3426=) c.9109-775G= (n.9109-775G=) | |
1 | g.152304608C>G | CA420926913 | FLG | c.10278G>C (p.Ala3426=) c.9109-775G>C (n.9109-775G>C) | |
1 | g.152304608C>T | CA1103435 | FLG | c.10278G>A (p.Ala3426=) c.9109-775G>A (n.9109-775G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304609G>A | CA1103437 | FLG | c.10277C>T (p.Ala3426Val) c.9109-776C>T (n.9109-776C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304609G>C | CA342071326 | FLG | c.10277C>G (p.Ala3426Gly) c.9109-776C>G (n.9109-776C>G) | |
1 | g.152304609G= | CA1141131340 | FLG | c.10277C= (p.Ala3426=) c.9109-776C= (n.9109-776C=) | |
1 | g.152304609G>T | CA342071330 | FLG | c.10277C>A (p.Ala3426Glu) c.9109-776C>A (n.9109-776C>A) | gnomAD v4 |
1 | g.152304610C>A | CA342071335 | FLG | c.10276G>T (p.Ala3426Ser) c.9109-777G>T (n.9109-777G>T) | |
1 | g.152304610C= | CA2479947528 | FLG | c.10276G= (p.Ala3426=) c.9109-777G= (n.9109-777G=) | |
1 | g.152304610C>G | CA342071338 | FLG | c.10276G>C (p.Ala3426Pro) c.9109-777G>C (n.9109-777G>C) | |
1 | g.152304610C>T | CA1103438 | FLG | c.10276G>A (p.Ala3426Thr) c.9109-777G>A (n.9109-777G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304611T>A | CA420926914 | FLG | c.10275A>T (p.Ser3425=) c.9109-778A>T (n.9109-778A>T) | |
1 | g.152304611T>C | CA420926915 | FLG | c.10275A>G (p.Ser3425=) c.9109-778A>G (n.9109-778A>G) | gnomAD v4 |
1 | g.152304611T>G | CA420926916 | FLG | c.10275A>C (p.Ser3425=) c.9109-778A>C (n.9109-778A>C) | |
1 | g.152304612G>A | CA342071346 | FLG | c.10274C>T (p.Ser3425Leu) c.9109-779C>T (n.9109-779C>T) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152304612G>C | CA342071349 | FLG | c.10274C>G (p.Ser3425Ter) c.9109-779C>G (n.9109-779C>G) | |
1 | g.152304612G= | CA2479947529 | FLG | c.10274C= (p.Ser3425=) c.9109-779C= (n.9109-779C=) | |
1 | g.152304612G>T | CA342071355 | FLG | c.10274C>A (p.Ser3425Ter) c.9109-779C>A (n.9109-779C>A) | |
1 | g.152304613A= | CA2479947530 | FLG | c.10273T= (p.Ser3425=) c.9109-780T= (n.9109-780T=) | |
1 | g.152304613A>C | CA342071368 | FLG | c.10273T>G (p.Ser3425Ala) c.9109-780T>G (n.9109-780T>G) | |
1 | g.152304613A>G | CA30601241 | FLG | c.10273T>C (p.Ser3425Pro) c.9109-780T>C (n.9109-780T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304613A>T | CA342071361 | FLG | c.10273T>A (p.Ser3425Thr) c.9109-780T>A (n.9109-780T>A) | dbSNP |
1 | g.152304614G>A | CA1103439 | FLG | c.10272C>T (p.His3424=) c.9109-781C>T (n.9109-781C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304614G>C | CA30601254 | FLG | c.10272C>G (p.His3424Gln) c.9109-781C>G (n.9109-781C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304614G= | CA2479947531 | FLG | c.10272C= (p.His3424=) c.9109-781C= (n.9109-781C=) | |
1 | g.152304614G>T | CA342071383 | FLG | c.10272C>A (p.His3424Gln) c.9109-781C>A (n.9109-781C>A) | dbSNP gnomAD v4 |
1 | g.152304615T>A | CA342071386 | FLG | c.10271A>T (p.His3424Leu) c.9109-782A>T (n.9109-782A>T) | |
1 | g.152304615T>C | CA342071401 | FLG | c.10271A>G (p.His3424Arg) c.9109-782A>G (n.9109-782A>G) | |
1 | g.152304615T>G | CA342071394 | FLG | c.10271A>C (p.His3424Pro) c.9109-782A>C (n.9109-782A>C) | |
1 | g.152304616G>A | CA342071405 | FLG | c.10270C>T (p.His3424Tyr) c.9109-783C>T (n.9109-783C>T) | |
1 | g.152304616G>C | CA342071409 | FLG | c.10270C>G (p.His3424Asp) c.9109-783C>G (n.9109-783C>G) | |
1 | g.152304616G>T | CA342071412 | FLG | c.10270C>A (p.His3424Asn) c.9109-783C>A (n.9109-783C>A) | |
1 | g.152304616_152304617delinsGC | CA2479947532 | FLG | c.10269_10270delinsGC (p.Arg3423=) c.9109-784_9109-783delinsGC (n.9109-784_9109-783delinsGC) | |
1 | g.152304617C>A | CA342071416 | FLG | c.10269G>T (p.Arg3423Ser) c.9109-784G>T (n.9109-784G>T) | |
1 | g.152304617C>G | CA342071422 | FLG | c.10269G>C (p.Arg3423Ser) c.9109-784G>C (n.9109-784G>C) | |
1 | g.152304617C>T | CA420926917 | FLG | c.10269G>A (p.Arg3423=) c.9109-784G>A (n.9109-784G>A) | gnomAD v4 COSMIC |
1 | g.152304618del | CA1103440 | FLG | c.10269del (p.Arg3423SerfsTer?) c.9109-784del (n.9109-784del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304618C>A | CA342071429 | FLG | c.10268G>T (p.Arg3423Met) c.9109-785G>T (n.9109-785G>T) | |
1 | g.152304618C= | CA2479947533 | FLG | c.10268G= (p.Arg3423=) c.9109-785G= (n.9109-785G=) | |
1 | g.152304618C>G | CA342071431 | FLG | c.10268G>C (p.Arg3423Thr) c.9109-785G>C (n.9109-785G>C) | dbSNP |
1 | g.152304618C>T | CA342071434 | FLG | c.10268G>A (p.Arg3423Lys) c.9109-785G>A (n.9109-785G>A) | |
1 | g.152304619T>A | CA342071437 | FLG | c.10267A>T (p.Arg3423Trp) c.9109-786A>T (n.9109-786A>T) | dbSNP gnomAD v4 COSMIC |
1 | g.152304619T>C | CA1103441 | FLG | c.10267A>G (p.Arg3423Gly) c.9109-786A>G (n.9109-786A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304619T>G | CA420926918 | FLG | c.10267A>C (p.Arg3423=) c.9109-786A>C (n.9109-786A>C) | gnomAD v4 |
1 | g.152304619T= | CA2479947534 | FLG | c.10267A= (p.Arg3423=) c.9109-786A= (n.9109-786A=) | |
1 | g.152304620G>A | CA30601262 | FLG | c.10266C>T (p.Ser3422=) c.9109-787C>T (n.9109-787C>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304620G>C | CA420926919 | FLG | c.10266C>G (p.Ser3422=) c.9109-787C>G (n.9109-787C>G) | |
1 | g.152304620G= | CA2479947535 | FLG | c.10266C= (p.Ser3422=) c.9109-787C= (n.9109-787C=) | |
1 | g.152304620G>T | CA420926920 | FLG | c.10266C>A (p.Ser3422=) c.9109-787C>A (n.9109-787C>A) | |
1 | g.152304621G>A | CA342071454 | FLG | c.10265C>T (p.Ser3422Phe) c.9109-788C>T (n.9109-788C>T) | COSMIC |
1 | g.152304621G>C | CA342071448 | FLG | c.10265C>G (p.Ser3422Cys) c.9109-788C>G (n.9109-788C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304621G= | CA2479947536 | FLG | c.10265C= (p.Ser3422=) c.9109-788C= (n.9109-788C=) | |
1 | g.152304621G>T | CA342071451 | FLG | c.10265C>A (p.Ser3422Tyr) c.9109-788C>A (n.9109-788C>A) | |
1 | g.152304622A>C | CA342071457 | FLG | c.10264T>G (p.Ser3422Ala) c.9109-789T>G (n.9109-789T>G) | gnomAD v4 |
1 | g.152304622A>G | CA342071458 | FLG | c.10264T>C (p.Ser3422Pro) c.9109-789T>C (n.9109-789T>C) | |
1 | g.152304622A>T | CA342071461 | FLG | c.10264T>A (p.Ser3422Thr) c.9109-789T>A (n.9109-789T>A) | |
1 | g.152304623G>A | CA420926921 | FLG | c.10263C>T (p.Ser3421=) c.9109-790C>T (n.9109-790C>T) | dbSNP gnomAD v4 |
1 | g.152304623G>C | CA1103442 | FLG | c.10263C>G (p.Ser3421Arg) c.9109-790C>G (n.9109-790C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304623G= | CA2479947537 | FLG | c.10263C= (p.Ser3421=) c.9109-790C= (n.9109-790C=) | |
1 | g.152304623G>T | CA342071465 | FLG | c.10263C>A (p.Ser3421Arg) c.9109-790C>A (n.9109-790C>A) | gnomAD v4 |
1 | g.152304624C>A | CA342071468 | FLG | c.10262G>T (p.Ser3421Ile) c.9109-791G>T (n.9109-791G>T) | |
1 | g.152304624C= | CA1141669440 | FLG | c.10262G= (p.Ser3421=) c.9109-791G= (n.9109-791G=) | |
1 | g.152304624C>G | CA342071471 | FLG | c.10262G>C (p.Ser3421Thr) c.9109-791G>C (n.9109-791G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304624C>T | CA1103443 | FLG | c.10262G>A (p.Ser3421Asn) c.9109-791G>A (n.9109-791G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304625T>A | CA342071477 | FLG | c.10261A>T (p.Ser3421Cys) c.9109-792A>T (n.9109-792A>T) | |
1 | g.152304625T>C | CA342071480 | FLG | c.10261A>G (p.Ser3421Gly) c.9109-792A>G (n.9109-792A>G) | dbSNP |
1 | g.152304625T>G | CA342071483 | FLG | c.10261A>C (p.Ser3421Arg) c.9109-792A>C (n.9109-792A>C) | |
1 | g.152304625T= | CA2479947538 | FLG | c.10261A= (p.Ser3421=) c.9109-792A= (n.9109-792A=) | |
1 | g.152304626G>A | CA420926922 | FLG | c.10260C>T (p.Asp3420=) c.9109-793C>T (n.9109-793C>T) | gnomAD v4 |
1 | g.152304626G>C | CA1103444 | FLG | c.10260C>G (p.Asp3420Glu) c.9109-793C>G (n.9109-793C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304626G= | CA1143542230 | FLG | c.10260C= (p.Asp3420=) c.9109-793C= (n.9109-793C=) | |
1 | g.152304626G>T | CA342071488 | FLG | c.10260C>A (p.Asp3420Glu) c.9109-793C>A (n.9109-793C>A) | |
1 | g.152304627T>A | CA342071492 | FLG | c.10259A>T (p.Asp3420Val) c.9109-794A>T (n.9109-794A>T) | |
1 | g.152304627T>C | CA1103445 | FLG | c.10259A>G (p.Asp3420Gly) c.9109-794A>G (n.9109-794A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304627T>G | CA342071496 | FLG | c.10259A>C (p.Asp3420Ala) c.9109-794A>C (n.9109-794A>C) | |
1 | g.152304627T= | CA1148896796 | FLG | c.10259A= (p.Asp3420=) c.9109-794A= (n.9109-794A=) | |
1 | g.152304628C>A | CA342071501 | FLG | c.10258G>T (p.Asp3420Tyr) c.9109-795G>T (n.9109-795G>T) | |
1 | g.152304628C= | CA2479947539 | FLG | c.10258G= (p.Asp3420=) c.9109-795G= (n.9109-795G=) | |
1 | g.152304628C>G | CA342071503 | FLG | c.10258G>C (p.Asp3420His) c.9109-795G>C (n.9109-795G>C) | dbSNP gnomAD v4 |
1 | g.152304628C>T | CA342071505 | FLG | c.10258G>A (p.Asp3420Asn) c.9109-795G>A (n.9109-795G>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304629T>A | CA420926923 | FLG | c.10257A>T (p.Arg3419=) c.9109-796A>T (n.9109-796A>T) | |
1 | g.152304629T>C | CA420926924 | FLG | c.10257A>G (p.Arg3419=) c.9109-796A>G (n.9109-796A>G) | gnomAD v4 |
1 | g.152304629T>G | CA420926925 | FLG | c.10257A>C (p.Arg3419=) c.9109-796A>C (n.9109-796A>C) | |
1 | g.152304630C>A | CA342071509 | FLG | c.10256G>T (p.Arg3419Leu) c.9109-797G>T (n.9109-797G>T) | dbSNP gnomAD v4 |
1 | g.152304630C= | CA1143536893 | FLG | c.10256G= (p.Arg3419=) c.9109-797G= (n.9109-797G=) | |
1 | g.152304630C>G | CA1103446 | FLG | c.10256G>C (p.Arg3419Pro) c.9109-797G>C (n.9109-797G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304630C>T | CA1103447 | FLG | c.10256G>A (p.Arg3419Gln) c.9109-797G>A (n.9109-797G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304631G>A | CA1103448 | FLG | c.10255C>T (p.Arg3419Ter) c.9109-798C>T (n.9109-798C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304631G>C | CA342071515 | FLG | c.10255C>G (p.Arg3419Gly) c.9109-798C>G (n.9109-798C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304631G= | CA1141928641 | FLG | c.10255C= (p.Arg3419=) c.9109-798C= (n.9109-798C=) | |
1 | g.152304631G>T | CA1103449 | FLG | c.10255C>A (p.Arg3419=) c.9109-798C>A (n.9109-798C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304632T>A | CA420926926 | FLG | c.10254A>T (p.Ala3418=) c.9109-799A>T (n.9109-799A>T) | gnomAD v4 |
1 | g.152304632T>C | CA420926927 | FLG | c.10254A>G (p.Ala3418=) c.9109-799A>G (n.9109-799A>G) | |
1 | g.152304632T>G | CA420926928 | FLG | c.10254A>C (p.Ala3418=) c.9109-799A>C (n.9109-799A>C) | |
1 | g.152304633G>A | CA342071524 | FLG | c.10253C>T (p.Ala3418Val) c.9109-800C>T (n.9109-800C>T) | dbSNP gnomAD v4 |
1 | g.152304633G>C | CA342071527 | FLG | c.10253C>G (p.Ala3418Gly) c.9109-800C>G (n.9109-800C>G) | |
1 | g.152304633G= | CA2479947541 | FLG | c.10253C= (p.Ala3418=) c.9109-800C= (n.9109-800C=) | |
1 | g.152304633G>T | CA342071521 | FLG | c.10253C>A (p.Ala3418Glu) c.9109-800C>A (n.9109-800C>A) | |
1 | g.152304633_152304634delinsGC | CA2479947540 | FLG | c.10252_10253delinsGC (p.Ala3418=) c.9109-801_9109-800delinsGC (n.9109-801_9109-800delinsGC) | |
1 | g.152304634C>A | CA342071530 | FLG | c.10252G>T (p.Ala3418Ser) c.9109-801G>T (n.9109-801G>T) | gnomAD v4 COSMIC |
1 | g.152304634C= | CA1144035220 | FLG | c.10252G= (p.Ala3418=) c.9109-801G= (n.9109-801G=) | |
1 | g.152304634C>G | CA342071533 | FLG | c.10252G>C (p.Ala3418Pro) c.9109-801G>C (n.9109-801G>C) | |
1 | g.152304634C>T | CA1103450 | FLG | c.10252G>A (p.Ala3418Thr) c.9109-801G>A (n.9109-801G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304635del | CA889396656 | FLG | c.10252del (p.Ala3418HisfsTer?) c.9109-801del (n.9109-801del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304635C>A | CA342071537 | FLG | c.10251G>T (p.Gln3417His) c.9109-802G>T (n.9109-802G>T) | |
1 | g.152304635C= | CA2479947543 | FLG | c.10251G= (p.Gln3417=) c.9109-802G= (n.9109-802G=) | |
1 | g.152304635C>G | CA342071540 | FLG | c.10251G>C (p.Gln3417His) c.9109-802G>C (n.9109-802G>C) | |
1 | g.152304635C>T | CA420926932 | FLG | c.10251G>A (p.Gln3417=) c.9109-802G>A (n.9109-802G>A) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304635_152304636delinsCT | CA2479947542 | FLG | c.10250_10251delinsAG (p.Gln3417=) c.9109-803_9109-802delinsAG (n.9109-803_9109-802delinsAG) | |
1 | g.152304636del | CA1103451 | FLG | c.10250del (p.Gln3417ArgfsTer?) c.9109-803del (n.9109-803del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304636T>A | CA342071549 | FLG | c.10250A>T (p.Gln3417Leu) c.9109-803A>T (n.9109-803A>T) | |
1 | g.152304636T>C | CA342071543 | FLG | c.10250A>G (p.Gln3417Arg) c.9109-803A>G (n.9109-803A>G) | |
1 | g.152304636T>G | CA342071547 | FLG | c.10250A>C (p.Gln3417Pro) c.9109-803A>C (n.9109-803A>C) | |
1 | g.152304636T= | CA1148871131 | FLG | c.10250A= (p.Gln3417=) c.9109-803A= (n.9109-803A=) | |
1 | g.152304636_152304645del | CA2746124055 | FLG | c.10241_10250del (p.His3414ArgfsTer?) c.9109-812_9109-803del (n.9109-812_9109-803del) | |
1 | g.152304637G>A | CA342071552 | FLG | c.10249C>T (p.Gln3417Ter) c.9109-804C>T (n.9109-804C>T) | |
1 | g.152304637G>C | CA342071555 | FLG | c.10249C>G (p.Gln3417Glu) c.9109-804C>G (n.9109-804C>G) | |
1 | g.152304637G>T | CA342071556 | FLG | c.10249C>A (p.Gln3417Lys) c.9109-804C>A (n.9109-804C>A) | |
1 | g.152304638C>A | CA342071560 | FLG | c.10248G>T (p.Glu3416Asp) c.9109-805G>T (n.9109-805G>T) | |
1 | g.152304638C= | CA2479947544 | FLG | c.10248G= (p.Glu3416=) c.9109-805G= (n.9109-805G=) | |
1 | g.152304638C>G | CA342071562 | FLG | c.10248G>C (p.Glu3416Asp) c.9109-805G>C (n.9109-805G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304638C>T | CA420926938 | FLG | c.10248G>A (p.Glu3416=) c.9109-805G>A (n.9109-805G>A) | gnomAD v4 |
1 | g.152304639T>A | CA342071570 | FLG | c.10247A>T (p.Glu3416Val) c.9109-806A>T (n.9109-806A>T) | |
1 | g.152304639T>C | CA342071568 | FLG | c.10247A>G (p.Glu3416Gly) c.9109-806A>G (n.9109-806A>G) | |
1 | g.152304639T>G | CA342071565 | FLG | c.10247A>C (p.Glu3416Ala) c.9109-806A>C (n.9109-806A>C) | |
1 | g.152304640C>A | CA342071576 | FLG | c.10246G>T (p.Glu3416Ter) c.9109-807G>T (n.9109-807G>T) | dbSNP gnomAD v4 |
1 | g.152304640C= | CA1141738852 | FLG | c.10246G= (p.Glu3416=) c.9109-807G= (n.9109-807G=) | |
1 | g.152304640C>G | CA342071575 | FLG | c.10246G>C (p.Glu3416Gln) c.9109-807G>C (n.9109-807G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304640C>T | CA1103452 | FLG | c.10246G>A (p.Glu3416Lys) c.9109-807G>A (n.9109-807G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304641G>A | CA1103453 | FLG | c.10245C>T (p.His3415=) c.9109-808C>T (n.9109-808C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304641G>C | CA342072442 | FLG | c.10245C>G (p.His3415Gln) c.9109-808C>G (n.9109-808C>G) | |
1 | g.152304641G= | CA1142401326 | FLG | c.10245C= (p.His3415=) c.9109-808C= (n.9109-808C=) | |
1 | g.152304641G>T | CA342072446 | FLG | c.10245C>A (p.His3415Gln) c.9109-808C>A (n.9109-808C>A) | |
1 | g.152304642T>A | CA342072449 | FLG | c.10244A>T (p.His3415Leu) c.9109-809A>T (n.9109-809A>T) | |
1 | g.152304642T>C | CA1103454 | FLG | c.10244A>G (p.His3415Arg) c.9109-809A>G (n.9109-809A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304642T>G | CA342072453 | FLG | c.10244A>C (p.His3415Pro) c.9109-809A>C (n.9109-809A>C) | |
1 | g.152304642T= | CA2479947545 | FLG | c.10244A= (p.His3415=) c.9109-809A= (n.9109-809A=) | |
1 | g.152304642_152304643delinsTG | CA2479947546 | FLG | c.10243_10244delinsCA (p.His3415=) c.9109-810_9109-809delinsCA (n.9109-810_9109-809delinsCA) | |
1 | g.152304643G>A | CA342072460 | FLG | c.10243C>T (p.His3415Tyr) c.9109-810C>T (n.9109-810C>T) | gnomAD v4 |
1 | g.152304643G>C | CA342072456 | FLG | c.10243C>G (p.His3415Asp) c.9109-810C>G (n.9109-810C>G) | |
1 | g.152304643G>T | CA342072458 | FLG | c.10243C>A (p.His3415Asn) c.9109-810C>A (n.9109-810C>A) | |
1 | g.152304644del | CA2479947547 | FLG | c.10243del (p.His3415ThrfsTer?) c.9109-810del (n.9109-810del) | dbSNP gnomAD v4 |
1 | g.152304644G>A | CA30601961 | FLG | c.10242C>T (p.His3414=) c.9109-811C>T (n.9109-811C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304644G>C | CA342072463 | FLG | c.10242C>G (p.His3414Gln) c.9109-811C>G (n.9109-811C>G) | |
1 | g.152304644G= | CA1142350903 | FLG | c.10242C= (p.His3414=) c.9109-811C= (n.9109-811C=) | |
1 | g.152304644G>T | CA1103455 | FLG | c.10242C>A (p.His3414Gln) c.9109-811C>A (n.9109-811C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304645T>A | CA342072468 | FLG | c.10241A>T (p.His3414Leu) c.9109-812A>T (n.9109-812A>T) | |
1 | g.152304645T>C | CA1103456 | FLG | c.10241A>G (p.His3414Arg) c.9109-812A>G (n.9109-812A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304645T>G | CA342072471 | FLG | c.10241A>C (p.His3414Pro) c.9109-812A>C (n.9109-812A>C) | |
1 | g.152304645T= | CA1143437866 | FLG | c.10241A= (p.His3414=) c.9109-812A= (n.9109-812A=) | |
1 | g.152304645_152304646delinsTG | CA2479947548 | FLG | c.10240_10241delinsCA (p.His3414=) c.9109-813_9109-812delinsCA (n.9109-813_9109-812delinsCA) | |
1 | g.152304646G>A | CA342072473 | FLG | c.10240C>T (p.His3414Tyr) c.9109-813C>T (n.9109-813C>T) | dbSNP |
1 | g.152304646G>C | CA342072478 | FLG | c.10240C>G (p.His3414Asp) c.9109-813C>G (n.9109-813C>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304646G= | CA2479947549 | FLG | c.10240C= (p.His3414=) c.9109-813C= (n.9109-813C=) | |
1 | g.152304646G>T | CA342072475 | FLG | c.10240C>A (p.His3414Asn) c.9109-813C>A (n.9109-813C>A) | gnomAD v4 |
1 | g.152304648del | CA1007764046 | FLG | c.10240del (p.His3414ThrfsTer?) c.9109-813del (n.9109-813del) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304647G>A | CA420926638 | FLG | c.10239C>T (p.Ser3413=) c.9109-814C>T (n.9109-814C>T) | dbSNP gnomAD v2 |
1 | g.152304647G>C | CA420926639 | FLG | c.10239C>G (p.Ser3413=) c.9109-814C>G (n.9109-814C>G) | |
1 | g.152304647G= | CA2479947550 | FLG | c.10239C= (p.Ser3413=) c.9109-814C= (n.9109-814C=) | |
1 | g.152304647G>T | CA420926640 | FLG | c.10239C>A (p.Ser3413=) c.9109-814C>A (n.9109-814C>A) | |
1 | g.152304648G>A | CA342072480 | FLG | c.10238C>T (p.Ser3413Phe) c.9109-815C>T (n.9109-815C>T) | gnomAD v4 |
1 | g.152304648G>C | CA342072482 | FLG | c.10238C>G (p.Ser3413Cys) c.9109-815C>G (n.9109-815C>G) | |
1 | g.152304648G>T | CA342072483 | FLG | c.10238C>A (p.Ser3413Tyr) c.9109-815C>A (n.9109-815C>A) | |
1 | g.152304649A= | CA1141819279 | FLG | c.10237T= (p.Ser3413=) c.9109-816T= (n.9109-816T=) | |
1 | g.152304649A>C | CA342072487 | FLG | c.10237T>G (p.Ser3413Ala) c.9109-816T>G (n.9109-816T>G) | |
1 | g.152304649A>G | CA1103457 | FLG | c.10237T>C (p.Ser3413Pro) c.9109-816T>C (n.9109-816T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304649A>T | CA342072490 | FLG | c.10237T>A (p.Ser3413Thr) c.9109-816T>A (n.9109-816T>A) | |
1 | g.152304650T>A | CA1103458 | FLG | c.10236A>T (p.Gly3412=) c.9109-817A>T (n.9109-817A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304650T>C | CA420926641 | FLG | c.10236A>G (p.Gly3412=) c.9109-817A>G (n.9109-817A>G) | |
1 | g.152304650T>G | CA420926642 | FLG | c.10236A>C (p.Gly3412=) c.9109-817A>C (n.9109-817A>C) | |
1 | g.152304650T= | CA2479947551 | FLG | c.10236A= (p.Gly3412=) c.9109-817A= (n.9109-817A=) | |
1 | g.152304651C>A | CA342072494 | FLG | c.10235G>T (p.Gly3412Val) c.9109-818G>T (n.9109-818G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304651C= | CA2479947552 | FLG | c.10235G= (p.Gly3412=) c.9109-818G= (n.9109-818G=) | |
1 | g.152304651C>G | CA342072496 | FLG | c.10235G>C (p.Gly3412Ala) c.9109-818G>C (n.9109-818G>C) | dbSNP |
1 | g.152304651C>T | CA30601979 | FLG | c.10235G>A (p.Gly3412Glu) c.9109-818G>A (n.9109-818G>A) | dbSNP |
1 | g.152304652C>A | CA342072504 | FLG | c.10234G>T (p.Gly3412Ter) c.9109-819G>T (n.9109-819G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304652C= | CA2479947553 | FLG | c.10234G= (p.Gly3412=) c.9109-819G= (n.9109-819G=) | |
1 | g.152304652C>G | CA342072502 | FLG | c.10234G>C (p.Gly3412Arg) c.9109-819G>C (n.9109-819G>C) | |
1 | g.152304652C>T | CA1103459 | FLG | c.10234G>A (p.Gly3412Arg) c.9109-819G>A (n.9109-819G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304653T>A | CA342072507 | FLG | c.10233A>T (p.Gln3411His) c.9109-820A>T (n.9109-820A>T) | ClinVar dbSNP |
1 | g.152304653T>C | CA420926643 | FLG | c.10233A>G (p.Gln3411=) c.9109-820A>G (n.9109-820A>G) | gnomAD v4 |
1 | g.152304653T>G | CA342072509 | FLG | c.10233A>C (p.Gln3411His) c.9109-820A>C (n.9109-820A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304653T= | CA2479947554 | FLG | c.10233A= (p.Gln3411=) c.9109-820A= (n.9109-820A=) | |
1 | g.152304654_152304679del | CA2574057965 | FLG | c.10208_10233del (p.Thr3403ArgfsTer?) c.9109-845_9109-820del (n.9109-845_9109-820del) | gnomAD v4 |
1 | g.152304654T>A | CA342072512 | FLG | c.10232A>T (p.Gln3411Leu) c.9109-821A>T (n.9109-821A>T) | |
1 | g.152304654T>C | CA342072514 | FLG | c.10232A>G (p.Gln3411Arg) c.9109-821A>G (n.9109-821A>G) | dbSNP |
1 | g.152304654T>G | CA342072516 | FLG | c.10232A>C (p.Gln3411Pro) c.9109-821A>C (n.9109-821A>C) | |
1 | g.152304654T= | CA2479947555 | FLG | c.10232A= (p.Gln3411=) c.9109-821A= (n.9109-821A=) | |
1 | g.152304655G>A | CA342072518 | FLG | c.10231C>T (p.Gln3411Ter) c.9109-822C>T (n.9109-822C>T) | gnomAD v4 |
1 | g.152304655G>C | CA342072520 | FLG | c.10231C>G (p.Gln3411Glu) c.9109-822C>G (n.9109-822C>G) | |
1 | g.152304655G= | CA2479947556 | FLG | c.10231C= (p.Gln3411=) c.9109-822C= (n.9109-822C=) | |
1 | g.152304655G>T | CA342072522 | FLG | c.10231C>A (p.Gln3411Lys) c.9109-822C>A (n.9109-822C>A) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304656T>A | CA342072524 | FLG | c.10230A>T (p.Arg3410Ser) c.9109-823A>T (n.9109-823A>T) | |
1 | g.152304656T>C | CA420926644 | FLG | c.10230A>G (p.Arg3410=) c.9109-823A>G (n.9109-823A>G) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304656T>G | CA342072525 | FLG | c.10230A>C (p.Arg3410Ser) c.9109-823A>C (n.9109-823A>C) | |
1 | g.152304656T= | CA2479947557 | FLG | c.10230A= (p.Arg3410=) c.9109-823A= (n.9109-823A=) | |
1 | g.152304657C>A | CA342072528 | FLG | c.10229G>T (p.Arg3410Ile) c.9109-824G>T (n.9109-824G>T) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304657C= | CA2479947558 | FLG | c.10229G= (p.Arg3410=) c.9109-824G= (n.9109-824G=) | |
1 | g.152304657C>G | CA342072530 | FLG | c.10229G>C (p.Arg3410Thr) c.9109-824G>C (n.9109-824G>C) | gnomAD v4 |
1 | g.152304657C>T | CA342072532 | FLG | c.10229G>A (p.Arg3410Lys) c.9109-824G>A (n.9109-824G>A) | dbSNP gnomAD v2 |
1 | g.152304658T>A | CA342072537 | FLG | c.10228A>T (p.Arg3410Ter) c.9109-825A>T (n.9109-825A>T) | COSMIC |
1 | g.152304658T>C | CA342072535 | FLG | c.10228A>G (p.Arg3410Gly) c.9109-825A>G (n.9109-825A>G) | |
1 | g.152304658T>G | CA420926646 | FLG | c.10228A>C (p.Arg3410=) c.9109-825A>C (n.9109-825A>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304658T= | CA2479947559 | FLG | c.10228A= (p.Arg3410=) c.9109-825A= (n.9109-825A=) | |
1 | g.152304659T>A | CA420926648 | FLG | c.10227A>T (p.Arg3409=) c.9109-826A>T (n.9109-826A>T) | |
1 | g.152304659T>C | CA420926649 | FLG | c.10227A>G (p.Arg3409=) c.9109-826A>G (n.9109-826A>G) | gnomAD v4 |
1 | g.152304659T>G | CA420926647 | FLG | c.10227A>C (p.Arg3409=) c.9109-826A>C (n.9109-826A>C) | |
1 | g.152304660C>A | CA342072540 | FLG | c.10226G>T (p.Arg3409Leu) c.9109-827G>T (n.9109-827G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304660C= | CA2479947560 | FLG | c.10226G= (p.Arg3409=) c.9109-827G= (n.9109-827G=) | |
1 | g.152304660C>G | CA342072542 | FLG | c.10226G>C (p.Arg3409Pro) c.9109-827G>C (n.9109-827G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304660C>T | CA1103460 | FLG | c.10226G>A (p.Arg3409Gln) c.9109-827G>A (n.9109-827G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304661G>A | CA1103462 | FLG | c.10225C>T (p.Arg3409Ter) c.9109-828C>T (n.9109-828C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304661G>C | CA1103461 | FLG | c.10225C>G (p.Arg3409Gly) c.9109-828C>G (n.9109-828C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304661G= | CA1143477615 | FLG | c.10225C= (p.Arg3409=) c.9109-828C= (n.9109-828C=) | |
1 | g.152304661G>T | CA420926654 | FLG | c.10225C>A (p.Arg3409=) c.9109-828C>A (n.9109-828C>A) | gnomAD v4 |
1 | g.152304662T>A | CA420926657 | FLG | c.10224A>T (p.Gly3408=) c.9109-829A>T (n.9109-829A>T) | |
1 | g.152304662T>C | CA420926655 | FLG | c.10224A>G (p.Gly3408=) c.9109-829A>G (n.9109-829A>G) | |
1 | g.152304662T>G | CA420926656 | FLG | c.10224A>C (p.Gly3408=) c.9109-829A>C (n.9109-829A>C) | |
1 | g.152304663C>A | CA1103463 | FLG | c.10223G>T (p.Gly3408Val) c.9109-830G>T (n.9109-830G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304663C= | CA2479947561 | FLG | c.10223G= (p.Gly3408=) c.9109-830G= (n.9109-830G=) | |
1 | g.152304663C>G | CA1103464 | FLG | c.10223G>C (p.Gly3408Ala) c.9109-830G>C (n.9109-830G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304663C>T | CA342072550 | FLG | c.10223G>A (p.Gly3408Glu) c.9109-830G>A (n.9109-830G>A) | gnomAD v3 gnomAD v4 |
1 | g.152304664C>A | CA342072553 | FLG | c.10222G>T (p.Gly3408Ter) c.9109-831G>T (n.9109-831G>T) | gnomAD v4 |
1 | g.152304664C= | CA2479947562 | FLG | c.10222G= (p.Gly3408=) c.9109-831G= (n.9109-831G=) | |
1 | g.152304664C>G | CA342072555 | FLG | c.10222G>C (p.Gly3408Arg) c.9109-831G>C (n.9109-831G>C) | |
1 | g.152304664C>T | CA1103465 | FLG | c.10222G>A (p.Gly3408Arg) c.9109-831G>A (n.9109-831G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304665A= | CA2479947563 | FLG | c.10221T= (p.Thr3407=) c.9109-832T= (n.9109-832T=) | |
1 | g.152304665A>C | CA420926666 | FLG | c.10221T>G (p.Thr3407=) c.9109-832T>G (n.9109-832T>G) | |
1 | g.152304665A>G | CA420926667 | FLG | c.10221T>C (p.Thr3407=) c.9109-832T>C (n.9109-832T>C) | dbSNP |
1 | g.152304665A>T | CA420926665 | FLG | c.10221T>A (p.Thr3407=) c.9109-832T>A (n.9109-832T>A) | |
1 | g.152304666G>A | CA1103466 | FLG | c.10220C>T (p.Thr3407Ile) c.9109-833C>T (n.9109-833C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304666G>C | CA1103468 | FLG | c.10220C>G (p.Thr3407Ser) c.9109-833C>G (n.9109-833C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304666G= | CA1143660761 | FLG | c.10220C= (p.Thr3407=) c.9109-833C= (n.9109-833C=) | |
1 | g.152304666G>T | CA1103467 | FLG | c.10220C>A (p.Thr3407Asn) c.9109-833C>A (n.9109-833C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304667T>A | CA342072567 | FLG | c.10219A>T (p.Thr3407Ser) c.9109-834A>T (n.9109-834A>T) | |
1 | g.152304667T>C | CA342072569 | FLG | c.10219A>G (p.Thr3407Ala) c.9109-834A>G (n.9109-834A>G) | dbSNP gnomAD v4 |
1 | g.152304667T>G | CA342072565 | FLG | c.10219A>C (p.Thr3407Pro) c.9109-834A>C (n.9109-834A>C) | |
1 | g.152304667T= | CA2479947564 | FLG | c.10219A= (p.Thr3407=) c.9109-834A= (n.9109-834A=) | |
1 | g.152304668G>A | CA420926674 | FLG | c.10218C>T (p.Ser3406=) c.9109-835C>T (n.9109-835C>T) | |
1 | g.152304668G>C | CA342072572 | FLG | c.10218C>G (p.Ser3406Arg) c.9109-835C>G (n.9109-835C>G) | |
1 | g.152304668G>T | CA342072574 | FLG | c.10218C>A (p.Ser3406Arg) c.9109-835C>A (n.9109-835C>A) | |
1 | g.152304669C>A | CA342072577 | FLG | c.10217G>T (p.Ser3406Ile) c.9109-836G>T (n.9109-836G>T) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304669C= | CA2479947565 | FLG | c.10217G= (p.Ser3406=) c.9109-836G= (n.9109-836G=) | |
1 | g.152304669C>G | CA342072579 | FLG | c.10217G>C (p.Ser3406Thr) c.9109-836G>C (n.9109-836G>C) | |
1 | g.152304669C>T | CA342072580 | FLG | c.10217G>A (p.Ser3406Asn) c.9109-836G>A (n.9109-836G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304670T>A | CA342072581 | FLG | c.10216A>T (p.Ser3406Cys) c.9109-837A>T (n.9109-837A>T) | |
1 | g.152304670T>C | CA342072583 | FLG | c.10216A>G (p.Ser3406Gly) c.9109-837A>G (n.9109-837A>G) | gnomAD v4 |
1 | g.152304670T>G | CA342072585 | FLG | c.10216A>C (p.Ser3406Arg) c.9109-837A>C (n.9109-837A>C) | |
1 | g.152304670T= | CA2479947566 | FLG | c.10216A= (p.Ser3406=) c.9109-837A= (n.9109-837A=) | |
1 | g.152304673_152304689del | CA2647993512 | FLG | c.10200_10216del (p.His3400GlnfsTer?) c.9109-853_9109-837del (n.9109-853_9109-837del) | gnomAD v4 |
1 | g.152304671G>A | CA420926682 | FLG | c.10215C>T (p.Thr3405=) c.9109-838C>T (n.9109-838C>T) | |
1 | g.152304671G>C | CA1103469 | FLG | c.10215C>G (p.Thr3405=) c.9109-838C>G (n.9109-838C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304671G= | CA1141621044 | FLG | c.10215C= (p.Thr3405=) c.9109-838C= (n.9109-838C=) | |
1 | g.152304671G>T | CA420926681 | FLG | c.10215C>A (p.Thr3405=) c.9109-838C>A (n.9109-838C>A) | gnomAD v4 |
1 | g.152304672dup | CA2479947567 | FLG | c.10215dup (p.Ser3406GlnfsTer?) c.9109-838dup (n.9109-838dup) | dbSNP |
1 | g.152304672G>A | CA342072591 | FLG | c.10214C>T (p.Thr3405Ile) c.9109-839C>T (n.9109-839C>T) | dbSNP gnomAD v4 |
1 | g.152304672G>C | CA342072586 | FLG | c.10214C>G (p.Thr3405Ser) c.9109-839C>G (n.9109-839C>G) | gnomAD v4 |
1 | g.152304672G= | CA2479947568 | FLG | c.10214C= (p.Thr3405=) c.9109-839C= (n.9109-839C=) | |
1 | g.152304672G>T | CA342072589 | FLG | c.10214C>A (p.Thr3405Asn) c.9109-839C>A (n.9109-839C>A) | |
1 | g.152304673T>A | CA342072592 | FLG | c.10213A>T (p.Thr3405Ser) c.9109-840A>T (n.9109-840A>T) | |
1 | g.152304673T>C | CA342072593 | FLG | c.10213A>G (p.Thr3405Ala) c.9109-840A>G (n.9109-840A>G) | gnomAD v4 |
1 | g.152304673T>G | CA1103470 | FLG | c.10213A>C (p.Thr3405Pro) c.9109-840A>C (n.9109-840A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304673T= | CA2479947569 | FLG | c.10213A= (p.Thr3405=) c.9109-840A= (n.9109-840A=) | |
1 | g.152304674C>A | CA342072594 | FLG | c.10212G>T (p.Arg3404Ser) c.9109-841G>T (n.9109-841G>T) | |
1 | g.152304674C= | CA2479947570 | FLG | c.10212G= (p.Arg3404=) c.9109-841G= (n.9109-841G=) | |
1 | g.152304674C>G | CA342072596 | FLG | c.10212G>C (p.Arg3404Ser) c.9109-841G>C (n.9109-841G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304674C>T | CA420926688 | FLG | c.10212G>A (p.Arg3404=) c.9109-841G>A (n.9109-841G>A) | dbSNP gnomAD v4 |
1 | g.152304674_152304675insGCAGA | CA2647993514 | FLG | c.10211_10212insTCTGC (p.Arg3404SerfsTer?) c.9109-842_9109-841insTCTGC (n.9109-842_9109-841insTCTGC) | gnomAD v4 |
1 | g.152304675C>A | CA342072599 | FLG | c.10211G>T (p.Arg3404Met) c.9109-842G>T (n.9109-842G>T) | |
1 | g.152304675C= | CA2479947571 | FLG | c.10211G= (p.Arg3404=) c.9109-842G= (n.9109-842G=) | |
1 | g.152304675C>G | CA342072604 | FLG | c.10211G>C (p.Arg3404Thr) c.9109-842G>C (n.9109-842G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304675C>T | CA342072602 | FLG | c.10211G>A (p.Arg3404Lys) c.9109-842G>A (n.9109-842G>A) | dbSNP |
1 | g.152304676T>A | CA342072605 | FLG | c.10210A>T (p.Arg3404Trp) c.9109-843A>T (n.9109-843A>T) | |
1 | g.152304676T>C | CA1103471 | FLG | c.10210A>G (p.Arg3404Gly) c.9109-843A>G (n.9109-843A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304676T>G | CA420926690 | FLG | c.10210A>C (p.Arg3404=) c.9109-843A>C (n.9109-843A>C) | |
1 | g.152304676T= | CA2479947572 | FLG | c.10210A= (p.Arg3404=) c.9109-843A= (n.9109-843A=) | |
1 | g.152304676_152304677delinsTG | CA2479947573 | FLG | c.10209_10210delinsCA (p.Thr3403=) c.9109-844_9109-843delinsCA (n.9109-844_9109-843delinsCA) | |
1 | g.152304676_152304679del | CA2647993515 | FLG | c.10207_10210del (p.Thr3403GlyfsTer?) c.9109-846_9109-843del (n.9109-846_9109-843del) | gnomAD v4 |
1 | g.152304679_152304689del | CA2647993516 | FLG | c.10200_10210del (p.His3400GlnfsTer?) c.9109-853_9109-843del (n.9109-853_9109-843del) | gnomAD v4 |
1 | g.152304677G>A | CA420926691 | FLG | c.10209C>T (p.Thr3403=) c.9109-844C>T (n.9109-844C>T) | gnomAD v4 |
1 | g.152304677G>C | CA1103473 | FLG | c.10209C>G (p.Thr3403=) c.9109-844C>G (n.9109-844C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304677G= | CA1148569024 | FLG | c.10209C= (p.Thr3403=) c.9109-844C= (n.9109-844C=) | |
1 | g.152304677G>T | CA1103472 | FLG | c.10209C>A (p.Thr3403=) c.9109-844C>A (n.9109-844C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304678del | CA916311162 | FLG | c.10209del (p.Arg3404GlyfsTer?) c.9109-844del (n.9109-844del) | dbSNP gnomAD v4 |
1 | g.152304677_152304678insA | CA2574057966 | FLG | c.10208_10209insT (p.Arg3404GlnfsTer?) c.9109-845_9109-844insT (n.9109-845_9109-844insT) | |
1 | g.152304678G>A | CA1103474 | FLG | c.10208C>T (p.Thr3403Ile) c.9109-845C>T (n.9109-845C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304678G>C | CA342072606 | FLG | c.10208C>G (p.Thr3403Ser) c.9109-845C>G (n.9109-845C>G) | |
1 | g.152304678G= | CA2479947574 | FLG | c.10208C= (p.Thr3403=) c.9109-845C= (n.9109-845C=) | |
1 | g.152304678G>T | CA1103475 | FLG | c.10208C>A (p.Thr3403Asn) c.9109-845C>A (n.9109-845C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304679T>A | CA342072607 | FLG | c.10207A>T (p.Thr3403Ser) c.9109-846A>T (n.9109-846A>T) | |
1 | g.152304679T>C | CA342072608 | FLG | c.10207A>G (p.Thr3403Ala) c.9109-846A>G (n.9109-846A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304679T>G | CA342072609 | FLG | c.10207A>C (p.Thr3403Pro) c.9109-846A>C (n.9109-846A>C) | |
1 | g.152304679T= | CA2479947575 | FLG | c.10207A= (p.Thr3403=) c.9109-846A= (n.9109-846A=) | |
1 | g.152304679_152304680del | CA2647993517 | FLG | c.10206_10207del (p.Thr3403GlnfsTer?) c.9109-847_9109-846del (n.9109-847_9109-846del) | gnomAD v4 |
1 | g.152304680C>A | CA420926694 | FLG | c.10206G>T (p.Arg3402=) c.9109-847G>T (n.9109-847G>T) | |
1 | g.152304680C= | CA2479947576 | FLG | c.10206G= (p.Arg3402=) c.9109-847G= (n.9109-847G=) | |
1 | g.152304680C>G | CA1103476 | FLG | c.10206G>C (p.Arg3402=) c.9109-847G>C (n.9109-847G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304680C>T | CA420926698 | FLG | c.10206G>A (p.Arg3402=) c.9109-847G>A (n.9109-847G>A) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304682_152304685del | CA2647993518 | FLG | c.10203_10206del (p.Arg3402ProfsTer?) c.9109-850_9109-847del (n.9109-850_9109-847del) | gnomAD v4 |
1 | g.152304681C>A | CA1103478 | FLG | c.10205G>T (p.Arg3402Leu) c.9109-848G>T (n.9109-848G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304681C= | CA1141220677 | FLG | c.10205G= (p.Arg3402=) c.9109-848G= (n.9109-848G=) | |
1 | g.152304681C>G | CA342072613 | FLG | c.10205G>C (p.Arg3402Pro) c.9109-848G>C (n.9109-848G>C) | gnomAD v4 |
1 | g.152304681C>T | CA1103477 | FLG | c.10205G>A (p.Arg3402Gln) c.9109-848G>A (n.9109-848G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304682G>A | CA1103479 | FLG | c.10204C>T (p.Arg3402Trp) c.9109-849C>T (n.9109-849C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304682G>C | CA342072616 | FLG | c.10204C>G (p.Arg3402Gly) c.9109-849C>G (n.9109-849C>G) | |
1 | g.152304682G= | CA1141818271 | FLG | c.10204C= (p.Arg3402=) c.9109-849C= (n.9109-849C=) | |
1 | g.152304682G>T | CA1103480 | FLG | c.10204C>A (p.Arg3402=) c.9109-849C>A (n.9109-849C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304683C>A | CA420926704 | FLG | c.10203G>T (p.Gly3401=) c.9109-850G>T (n.9109-850G>T) | |
1 | g.152304683C= | CA1147016483 | FLG | c.10203G= (p.Gly3401=) c.9109-850G= (n.9109-850G=) | |
1 | g.152304683C>G | CA420926706 | FLG | c.10203G>C (p.Gly3401=) c.9109-850G>C (n.9109-850G>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304683C>T | CA1103481 | FLG | c.10203G>A (p.Gly3401=) c.9109-850G>A (n.9109-850G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152304685del | CA2647993520 | FLG | c.10203del (p.Arg3402GlyfsTer?) c.9109-850del (n.9109-850del) | gnomAD v4 |
1 | g.152304683_152304684insGT | CA2647993522 | FLG | c.10202_10203insAC (p.Thr3403GlyfsTer?) c.9109-851_9109-850insAC (n.9109-851_9109-850insAC) | gnomAD v4 |
1 | g.152304684C>A | CA1103482 | FLG | c.10202G>T (p.Gly3401Val) c.9109-851G>T (n.9109-851G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304684C= | CA2479947577 | FLG | c.10202G= (p.Gly3401=) c.9109-851G= (n.9109-851G=) | |
1 | g.152304684C>G | CA342072620 | FLG | c.10202G>C (p.Gly3401Ala) c.9109-851G>C (n.9109-851G>C) | gnomAD v4 |
1 | g.152304684C>T | CA342072622 | FLG | c.10202G>A (p.Gly3401Glu) c.9109-851G>A (n.9109-851G>A) | |
1 | g.152304685C>A | CA1103483 | FLG | c.10201G>T (p.Gly3401Trp) c.9109-852G>T (n.9109-852G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152304685C= | CA2479947578 | FLG | c.10201G= (p.Gly3401=) c.9109-852G= (n.9109-852G=) | |
1 | g.152304685C>G | CA342072625 | FLG | c.10201G>C (p.Gly3401Arg) c.9109-852G>C (n.9109-852G>C) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152304685C>T | CA342072627 | FLG | c.10201G>A (p.Gly3401Arg) c.9109-852G>A (n.9109-852G>A) | gnomAD v4 |
1 | g.152304686A= | CA1144625378 | FLG | c.10200T= (p.His3400=) c.9109-853T= (n.9109-853T=) | |
1 | g.152304686A>C | CA342072629 | FLG | c.10200T>G (p.His3400Gln) c.9109-853T>G (n.9109-853T>G) | |
1 | g.152304686A>G | CA30602043 | FLG | c.10200T>C (p.His3400=) c.9109-853T>C (n.9109-853T>C) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152304686A>T | CA342072631 | FLG | c.10200T>A (p.His3400Gln) c.9109-853T>A (n.9109-853T>A) | dbSNP gnomAD v4 |
1 | g.152304687T>A | CA342072632 | FLG | c.10199A>T (p.His3400Leu) c.9109-854A>T (n.9109-854A>T) | |
1 | g.152304687T>C | CA1103484 | FLG | c.10199A>G (p.His3400Arg) c.9109-854A>G (n.9109-854A>G) | dbSNP ExAC gnomAD v4 |
1 | g.152304687T>G | CA342072634 | FLG | c.10199A>C (p.His3400Pro) c.9109-854A>C (n.9109-854A>C) | |
1 | g.152304687T= | CA2479947579 | FLG | c.10199A= (p.His3400=) c.9109-854A= (n.9109-854A=) | |
1 | g.152304688G>A | CA342072635 | FLG | c.10198C>T (p.His3400Tyr) c.9109-855C>T (n.9109-855C>T) | |
1 | g.152304688G>C | CA342072637 | FLG | c.10198C>G (p.His3400Asp) c.9109-855C>G (n.9109-855C>G) | gnomAD v4 |
1 | g.152304688G>T | CA342072638 | FLG | c.10198C>A (p.His3400Asn) c.9109-855C>A (n.9109-855C>A) | |
1 | g.152304689G>A | CA420926714 | FLG | c.10197C>T (p.Ala3399=) c.9109-856C>T (n.9109-856C>T) | |
1 | g.152304689G>C | CA420926715 | FLG | c.10197C>G (p.Ala3399=) c.9109-856C>G (n.9109-856C>G) | |
1 | g.152304689G>T | CA420926716 | FLG | c.10197C>A (p.Ala3399=) c.9109-856C>A (n.9109-856C>A) | gnomAD v4 |
1 | g.152304690G>A | CA342072640 | FLG | c.10196C>T (p.Ala3399Val) c.9109-857C>T (n.9109-857C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304690G>C | CA342072642 | FLG | c.10196C>G (p.Ala3399Gly) c.9109-857C>G (n.9109-857C>G) | |
1 | g.152304690G= | CA2479947580 | FLG | c.10196C= (p.Ala3399=) c.9109-857C= (n.9109-857C=) | |
1 | g.152304690G>T | CA342072643 | FLG | c.10196C>A (p.Ala3399Asp) c.9109-857C>A (n.9109-857C>A) | gnomAD v4 |
1 | g.152304691C>A | CA342072644 | FLG | c.10195G>T (p.Ala3399Ser) c.9109-858G>T (n.9109-858G>T) | dbSNP gnomAD v4 |
1 | g.152304691C= | CA2479947581 | FLG | c.10195G= (p.Ala3399=) c.9109-858G= (n.9109-858G=) | |
1 | g.152304691C>G | CA342072645 | FLG | c.10195G>C (p.Ala3399Pro) c.9109-858G>C (n.9109-858G>C) | |
1 | g.152304691C>T | CA1103485 | FLG | c.10195G>A (p.Ala3399Thr) c.9109-858G>A (n.9109-858G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304692A= | CA1139984955 | FLG | c.10194T= (p.Ser3398=) c.9109-859T= (n.9109-859T=) | |
1 | g.152304692A>C | CA420926720 | FLG | c.10194T>G (p.Ser3398=) c.9109-859T>G (n.9109-859T>G) | dbSNP |
1 | g.152304692A>G | CA1103486 | FLG | c.10194T>C (p.Ser3398=) c.9109-859T>C (n.9109-859T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152304692A>T | CA420926722 | FLG | c.10194T>A (p.Ser3398=) c.9109-859T>A (n.9109-859T>A) | dbSNP |
1 | g.152304693G>A | CA342072650 | FLG | c.10193C>T (p.Ser3398Phe) c.9109-860C>T (n.9109-860C>T) | |
1 | g.152304693G>C | CA342072648 | FLG | c.10193C>G (p.Ser3398Cys) c.9109-860C>G (n.9109-860C>G) | |
1 | g.152304693G>T | CA342072647 | FLG | c.10193C>A (p.Ser3398Tyr) c.9109-860C>A (n.9109-860C>A) | |
1 | g.152304693_152304696del | CA2647993525 | FLG | c.10190_10193del (p.Glu3397ValfsTer?) c.9109-863_9109-860del (n.9109-863_9109-860del) | gnomAD v4 |