UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |
| 1 | g.152304492C>A | CA342070217 | FLG | c.10394G>T (p.Ser3465Ile) c.9109-659G>T (n.9109-659G>T) | |
| 1 | g.152304492C= | CA1145775080 | FLG | c.10394G= (p.Ser3465=) c.9109-659G= (n.9109-659G=) | |
| 1 | g.152304492C>G | CA342070219 | FLG | c.10394G>C (p.Ser3465Thr) c.9109-659G>C (n.9109-659G>C) | gnomAD v4 |
| 1 | g.152304492C>T | CA1103368 | FLG | c.10394G>A (p.Ser3465Asn) c.9109-659G>A (n.9109-659G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304493T>A | CA342070225 | FLG | c.10393A>T (p.Ser3465Cys) c.9109-660A>T (n.9109-660A>T) | gnomAD v4 |
| 1 | g.152304493T>C | CA342070228 | FLG | c.10393A>G (p.Ser3465Gly) c.9109-660A>G (n.9109-660A>G) | |
| 1 | g.152304493T>G | CA342070231 | FLG | c.10393A>C (p.Ser3465Arg) c.9109-660A>C (n.9109-660A>C) | |
| 1 | g.152304494G>A | CA420926592 | FLG | c.10392C>T (p.His3464=) c.9109-661C>T (n.9109-661C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304494G>C | CA1103369 | FLG | c.10392C>G (p.His3464Gln) c.9109-661C>G (n.9109-661C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304494G= | CA2479947472 | FLG | c.10392C= (p.His3464=) c.9109-661C= (n.9109-661C=) | |
| 1 | g.152304494G>T | CA342070253 | FLG | c.10392C>A (p.His3464Gln) c.9109-661C>A (n.9109-661C>A) | gnomAD v4 |
| 1 | g.152304495T>A | CA342070256 | FLG | c.10391A>T (p.His3464Leu) c.9109-662A>T (n.9109-662A>T) | |
| 1 | g.152304495T>C | CA342070257 | FLG | c.10391A>G (p.His3464Arg) c.9109-662A>G (n.9109-662A>G) | |
| 1 | g.152304495T>G | CA342070258 | FLG | c.10391A>C (p.His3464Pro) c.9109-662A>C (n.9109-662A>C) | dbSNP |
| 1 | g.152304495T= | CA2479947473 | FLG | c.10391A= (p.His3464=) c.9109-662A= (n.9109-662A=) | |
| 1 | g.152304496G>A | CA342070259 | FLG | c.10390C>T (p.His3464Tyr) c.9109-663C>T (n.9109-663C>T) | |
| 1 | g.152304496G>C | CA342070262 | FLG | c.10390C>G (p.His3464Asp) c.9109-663C>G (n.9109-663C>G) | gnomAD v4 |
| 1 | g.152304496G>T | CA342070265 | FLG | c.10390C>A (p.His3464Asn) c.9109-663C>A (n.9109-663C>A) | |
| 1 | g.152304497A= | CA2479947474 | FLG | c.10389T= (p.His3463=) c.9109-664T= (n.9109-664T=) | |
| 1 | g.152304497A>C | CA342070267 | FLG | c.10389T>G (p.His3463Gln) c.9109-664T>G (n.9109-664T>G) | |
| 1 | g.152304497A>G | CA420926595 | FLG | c.10389T>C (p.His3463=) c.9109-664T>C (n.9109-664T>C) | |
| 1 | g.152304497A>T | CA342070269 | FLG | c.10389T>A (p.His3463Gln) c.9109-664T>A (n.9109-664T>A) | dbSNP gnomAD v4 |
| 1 | g.152304498T>A | CA342070271 | FLG | c.10388A>T (p.His3463Leu) c.9109-665A>T (n.9109-665A>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304498T>C | CA342070273 | FLG | c.10388A>G (p.His3463Arg) c.9109-665A>G (n.9109-665A>G) | |
| 1 | g.152304498T>G | CA342070275 | FLG | c.10388A>C (p.His3463Pro) c.9109-665A>C (n.9109-665A>C) | |
| 1 | g.152304498T= | CA2479947475 | FLG | c.10388A= (p.His3463=) c.9109-665A= (n.9109-665A=) | |
| 1 | g.152304499G>A | CA342070279 | FLG | c.10387C>T (p.His3463Tyr) c.9109-666C>T (n.9109-666C>T) | |
| 1 | g.152304499G>C | CA342070283 | FLG | c.10387C>G (p.His3463Asp) c.9109-666C>G (n.9109-666C>G) | |
| 1 | g.152304499G>T | CA342070289 | FLG | c.10387C>A (p.His3463Asn) c.9109-666C>A (n.9109-666C>A) | |
| 1 | g.152304500G>A | CA1103370 | FLG | c.10386C>T (p.Ser3462=) c.9109-667C>T (n.9109-667C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304500G>C | CA420926604 | FLG | c.10386C>G (p.Ser3462=) c.9109-667C>G (n.9109-667C>G) | |
| 1 | g.152304500G= | CA1141734246 | FLG | c.10386C= (p.Ser3462=) c.9109-667C= (n.9109-667C=) | |
| 1 | g.152304500G>T | CA420926605 | FLG | c.10386C>A (p.Ser3462=) c.9109-667C>A (n.9109-667C>A) | |
| 1 | g.152304500_152304501insTCCGT | CA2647993501 | FLG | c.10385_10386insACGGA (p.His3463ArgfsTer?) c.9109-668_9109-667insACGGA (n.9109-668_9109-667insACGGA) | gnomAD v4 |
| 1 | g.152304501G>A | CA342070310 | FLG | c.10385C>T (p.Ser3462Phe) c.9109-668C>T (n.9109-668C>T) | |
| 1 | g.152304501G>C | CA342070314 | FLG | c.10385C>G (p.Ser3462Cys) c.9109-668C>G (n.9109-668C>G) | |
| 1 | g.152304501G>T | CA342070317 | FLG | c.10385C>A (p.Ser3462Tyr) c.9109-668C>A (n.9109-668C>A) | |
| 1 | g.152304502A= | CA2479947476 | FLG | c.10384T= (p.Ser3462=) c.9109-669T= (n.9109-669T=) | |
| 1 | g.152304502A>C | CA342070320 | FLG | c.10384T>G (p.Ser3462Ala) c.9109-669T>G (n.9109-669T>G) | gnomAD v4 |
| 1 | g.152304502A>G | CA1103371 | FLG | c.10384T>C (p.Ser3462Pro) c.9109-669T>C (n.9109-669T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304502A>T | CA342070325 | FLG | c.10384T>A (p.Ser3462Thr) c.9109-669T>A (n.9109-669T>A) | |
| 1 | g.152304503C>A | CA1103373 | FLG | c.10383G>T (p.Gly3461=) c.9109-670G>T (n.9109-670G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304503C= | CA1142055505 | FLG | c.10383G= (p.Gly3461=) c.9109-670G= (n.9109-670G=) | |
| 1 | g.152304503C>G | CA420926612 | FLG | c.10383G>C (p.Gly3461=) c.9109-670G>C (n.9109-670G>C) | |
| 1 | g.152304503C>T | CA1103372 | FLG | c.10383G>A (p.Gly3461=) c.9109-670G>A (n.9109-670G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304504C>A | CA342070328 | FLG | c.10382G>T (p.Gly3461Val) c.9109-671G>T (n.9109-671G>T) | |
| 1 | g.152304504C= | CA2479947477 | FLG | c.10382G= (p.Gly3461=) c.9109-671G= (n.9109-671G=) | |
| 1 | g.152304504C>G | CA342070329 | FLG | c.10382G>C (p.Gly3461Ala) c.9109-671G>C (n.9109-671G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304504C>T | CA342070332 | FLG | c.10382G>A (p.Gly3461Glu) c.9109-671G>A (n.9109-671G>A) | gnomAD v4 |
| 1 | g.152304504_152304505insAATGC | CA2647993502 | FLG | c.10382_10383insCATTG (p.Ser3462IlefsTer?) c.9109-671_9109-670insCATTG (n.9109-671_9109-670insCATTG) | gnomAD v4 |
| 1 | g.152304505C>A | CA342070338 | FLG | c.10381G>T (p.Gly3461Trp) c.9109-672G>T (n.9109-672G>T) | |
| 1 | g.152304505C>G | CA342070341 | FLG | c.10381G>C (p.Gly3461Arg) c.9109-672G>C (n.9109-672G>C) | |
| 1 | g.152304505C>T | CA342070344 | FLG | c.10381G>A (p.Gly3461Arg) c.9109-672G>A (n.9109-672G>A) | gnomAD v4 |
| 1 | g.152304506T>A | CA420926617 | FLG | c.10380A>T (p.Ser3460=) c.9109-673A>T (n.9109-673A>T) | gnomAD v4 |
| 1 | g.152304506T>C | CA1103374 | FLG | c.10380A>G (p.Ser3460=) c.9109-673A>G (n.9109-673A>G) | dbSNP ExAC gnomAD v2 |
| 1 | g.152304506T>G | CA1103375 | FLG | c.10380A>C (p.Ser3460=) c.9109-673A>C (n.9109-673A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304506T= | CA2479947478 | FLG | c.10380A= (p.Ser3460=) c.9109-673A= (n.9109-673A=) | |
| 1 | g.152304507G>A | CA342070354 | FLG | c.10379C>T (p.Ser3460Leu) c.9109-674C>T (n.9109-674C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304507G>C | CA342070358 | FLG | c.10379C>G (p.Ser3460Ter) c.9109-674C>G (n.9109-674C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304507G= | CA2479947479 | FLG | c.10379C= (p.Ser3460=) c.9109-674C= (n.9109-674C=) | |
| 1 | g.152304507G>T | CA342070362 | FLG | c.10379C>A (p.Ser3460Ter) c.9109-674C>A (n.9109-674C>A) | |
| 1 | g.152304508A>C | CA342070370 | FLG | c.10378T>G (p.Ser3460Ala) c.9109-675T>G (n.9109-675T>G) | gnomAD v4 |
| 1 | g.152304508A>G | CA342070384 | FLG | c.10378T>C (p.Ser3460Pro) c.9109-675T>C (n.9109-675T>C) | |
| 1 | g.152304508A>T | CA342070387 | FLG | c.10378T>A (p.Ser3460Thr) c.9109-675T>A (n.9109-675T>A) | |
| 1 | g.152304509G>A | CA420926619 | FLG | c.10377C>T (p.His3459=) c.9109-676C>T (n.9109-676C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304509G>C | CA342070394 | FLG | c.10377C>G (p.His3459Gln) c.9109-676C>G (n.9109-676C>G) | |
| 1 | g.152304509G= | CA2479947480 | FLG | c.10377C= (p.His3459=) c.9109-676C= (n.9109-676C=) | |
| 1 | g.152304509G>T | CA342070390 | FLG | c.10377C>A (p.His3459Gln) c.9109-676C>A (n.9109-676C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304510T>A | CA342070401 | FLG | c.10376A>T (p.His3459Leu) c.9109-677A>T (n.9109-677A>T) | |
| 1 | g.152304510T>C | CA342070405 | FLG | c.10376A>G (p.His3459Arg) c.9109-677A>G (n.9109-677A>G) | |
| 1 | g.152304510T>G | CA342070403 | FLG | c.10376A>C (p.His3459Pro) c.9109-677A>C (n.9109-677A>C) | |
| 1 | g.152304511G>A | CA342070410 | FLG | c.10375C>T (p.His3459Tyr) c.9109-678C>T (n.9109-678C>T) | gnomAD v4 |
| 1 | g.152304511G>C | CA342070420 | FLG | c.10375C>G (p.His3459Asp) c.9109-678C>G (n.9109-678C>G) | |
| 1 | g.152304511G>T | CA342070414 | FLG | c.10375C>A (p.His3459Asn) c.9109-678C>A (n.9109-678C>A) | |
| 1 | g.152304512T>A | CA420926625 | FLG | c.10374A>T (p.Gly3458=) c.9109-679A>T (n.9109-679A>T) | |
| 1 | g.152304512T>C | CA420926628 | FLG | c.10374A>G (p.Gly3458=) c.9109-679A>G (n.9109-679A>G) | dbSNP gnomAD v4 |
| 1 | g.152304512T>G | CA420926629 | FLG | c.10374A>C (p.Gly3458=) c.9109-679A>C (n.9109-679A>C) | COSMIC |
| 1 | g.152304512T= | CA2479947481 | FLG | c.10374A= (p.Gly3458=) c.9109-679A= (n.9109-679A=) | |
| 1 | g.152304513C>A | CA342070430 | FLG | c.10373G>T (p.Gly3458Val) c.9109-680G>T (n.9109-680G>T) | |
| 1 | g.152304513C>G | CA342070432 | FLG | c.10373G>C (p.Gly3458Ala) c.9109-680G>C (n.9109-680G>C) | |
| 1 | g.152304513C>T | CA342070436 | FLG | c.10373G>A (p.Gly3458Glu) c.9109-680G>A (n.9109-680G>A) | |
| 1 | g.152304514C>A | CA342070443 | FLG | c.10372G>T (p.Gly3458Ter) c.9109-681G>T (n.9109-681G>T) | |
| 1 | g.152304514C= | CA2479947482 | FLG | c.10372G= (p.Gly3458=) c.9109-681G= (n.9109-681G=) | |
| 1 | g.152304514C>G | CA342070447 | FLG | c.10372G>C (p.Gly3458Arg) c.9109-681G>C (n.9109-681G>C) | |
| 1 | g.152304514C>T | CA342070449 | FLG | c.10372G>A (p.Gly3458Arg) c.9109-681G>A (n.9109-681G>A) | dbSNP gnomAD v4 |
| 1 | g.152304515A= | CA2479947483 | FLG | c.10371T= (p.Ser3457=) c.9109-682T= (n.9109-682T=) | |
| 1 | g.152304515A>C | CA420926790 | FLG | c.10371T>G (p.Ser3457=) c.9109-682T>G (n.9109-682T>G) | |
| 1 | g.152304515A>G | CA1103376 | FLG | c.10371T>C (p.Ser3457=) c.9109-682T>C (n.9109-682T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304515A>T | CA420926792 | FLG | c.10371T>A (p.Ser3457=) c.9109-682T>A (n.9109-682T>A) | |
| 1 | g.152304516G>A | CA342070453 | FLG | c.10370C>T (p.Ser3457Phe) c.9109-683C>T (n.9109-683C>T) | |
| 1 | g.152304516G>C | CA342070454 | FLG | c.10370C>G (p.Ser3457Cys) c.9109-683C>G (n.9109-683C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304516G= | CA2479947484 | FLG | c.10370C= (p.Ser3457=) c.9109-683C= (n.9109-683C=) | |
| 1 | g.152304516G>T | CA342070455 | FLG | c.10370C>A (p.Ser3457Tyr) c.9109-683C>A (n.9109-683C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304517A= | CA2479947485 | FLG | c.10369T= (p.Ser3457=) c.9109-684T= (n.9109-684T=) | |
| 1 | g.152304517A>C | CA1103377 | FLG | c.10369T>G (p.Ser3457Ala) c.9109-684T>G (n.9109-684T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304517A>G | CA342070469 | FLG | c.10369T>C (p.Ser3457Pro) c.9109-684T>C (n.9109-684T>C) | |
| 1 | g.152304517A>T | CA342070473 | FLG | c.10369T>A (p.Ser3457Thr) c.9109-684T>A (n.9109-684T>A) | |
| 1 | g.152304518C>A | CA342070483 | FLG | c.10368G>T (p.Arg3456Ser) c.9109-685G>T (n.9109-685G>T) | dbSNP |
| 1 | g.152304518C= | CA1145966677 | FLG | c.10368G= (p.Arg3456=) c.9109-685G= (n.9109-685G=) | |
| 1 | g.152304518C>G | CA1103379 | FLG | c.10368G>C (p.Arg3456Ser) c.9109-685G>C (n.9109-685G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304518C>T | CA1103378 | FLG | c.10368G>A (p.Arg3456=) c.9109-685G>A (n.9109-685G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304519del | CA2647993503 | FLG | c.10368del (p.Arg3456SerfsTer?) c.9109-685del (n.9109-685del) | gnomAD v4 |
| 1 | g.152304519C>A | CA342070485 | FLG | c.10367G>T (p.Arg3456Met) c.9109-686G>T (n.9109-686G>T) | |
| 1 | g.152304519C= | CA2479947486 | FLG | c.10367G= (p.Arg3456=) c.9109-686G= (n.9109-686G=) | |
| 1 | g.152304519C>G | CA342070487 | FLG | c.10367G>C (p.Arg3456Thr) c.9109-686G>C (n.9109-686G>C) | dbSNP |
| 1 | g.152304519C>T | CA342070490 | FLG | c.10367G>A (p.Arg3456Lys) c.9109-686G>A (n.9109-686G>A) | dbSNP gnomAD v4 |
| 1 | g.152304520T>A | CA342070498 | FLG | c.10366A>T (p.Arg3456Trp) c.9109-687A>T (n.9109-687A>T) | |
| 1 | g.152304520T>C | CA342070499 | FLG | c.10366A>G (p.Arg3456Gly) c.9109-687A>G (n.9109-687A>G) | gnomAD v4 |
| 1 | g.152304520T>G | CA420926799 | FLG | c.10366A>C (p.Arg3456=) c.9109-687A>C (n.9109-687A>C) | |
| 1 | g.152304521A= | CA2479947487 | FLG | c.10365T= (p.Asp3455=) c.9109-688T= (n.9109-688T=) | |
| 1 | g.152304521A>C | CA1103380 | FLG | c.10365T>G (p.Asp3455Glu) c.9109-688T>G (n.9109-688T>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304521A>G | CA1103381 | FLG | c.10365T>C (p.Asp3455=) c.9109-688T>C (n.9109-688T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304521A>T | CA342070500 | FLG | c.10365T>A (p.Asp3455Glu) c.9109-688T>A (n.9109-688T>A) | |
| 1 | g.152304522T>A | CA342070505 | FLG | c.10364A>T (p.Asp3455Val) c.9109-689A>T (n.9109-689A>T) | |
| 1 | g.152304522T>C | CA342070507 | FLG | c.10364A>G (p.Asp3455Gly) c.9109-689A>G (n.9109-689A>G) | gnomAD v4 |
| 1 | g.152304522T>G | CA342070509 | FLG | c.10364A>C (p.Asp3455Ala) c.9109-689A>C (n.9109-689A>C) | |
| 1 | g.152304523C>A | CA342070510 | FLG | c.10363G>T (p.Asp3455Tyr) c.9109-690G>T (n.9109-690G>T) | |
| 1 | g.152304523C= | CA2479947488 | FLG | c.10363G= (p.Asp3455=) c.9109-690G= (n.9109-690G=) | |
| 1 | g.152304523C>G | CA342070511 | FLG | c.10363G>C (p.Asp3455His) c.9109-690G>C (n.9109-690G>C) | gnomAD v4 |
| 1 | g.152304523C>T | CA1103382 | FLG | c.10363G>A (p.Asp3455Asn) c.9109-690G>A (n.9109-690G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304524T>A | CA420926806 | FLG | c.10362A>T (p.Val3454=) c.9109-691A>T (n.9109-691A>T) | gnomAD v4 |
| 1 | g.152304524T>C | CA420926811 | FLG | c.10362A>G (p.Val3454=) c.9109-691A>G (n.9109-691A>G) | |
| 1 | g.152304524T>G | CA420926809 | FLG | c.10362A>C (p.Val3454=) c.9109-691A>C (n.9109-691A>C) | |
| 1 | g.152304525A= | CA1149050004 | FLG | c.10361T= (p.Val3454=) c.9109-692T= (n.9109-692T=) | |
| 1 | g.152304525A>C | CA1103384 | FLG | c.10361T>G (p.Val3454Gly) c.9109-692T>G (n.9109-692T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304525A>G | CA1103383 | FLG | c.10361T>C (p.Val3454Ala) c.9109-692T>C (n.9109-692T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304525A>T | CA342070518 | FLG | c.10361T>A (p.Val3454Glu) c.9109-692T>A (n.9109-692T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304526C>A | CA342070525 | FLG | c.10360G>T (p.Val3454Leu) c.9109-693G>T (n.9109-693G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304526C= | CA2479947489 | FLG | c.10360G= (p.Val3454=) c.9109-693G= (n.9109-693G=) | |
| 1 | g.152304526C>G | CA342070528 | FLG | c.10360G>C (p.Val3454Leu) c.9109-693G>C (n.9109-693G>C) | |
| 1 | g.152304526C>T | CA342070547 | FLG | c.10360G>A (p.Val3454Ile) c.9109-693G>A (n.9109-693G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304527C>A | CA1103387 | FLG | c.10359G>T (p.Ser3453=) c.9109-694G>T (n.9109-694G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304527C= | CA1141144266 | FLG | c.10359G= (p.Ser3453=) c.9109-694G= (n.9109-694G=) | |
| 1 | g.152304527C>G | CA1103386 | FLG | c.10359G>C (p.Ser3453=) c.9109-694G>C (n.9109-694G>C) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.152304527C>T | CA1103385 | FLG | c.10359G>A (p.Ser3453=) c.9109-694G>A (n.9109-694G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304528G>A | CA1103388 | FLG | c.10358C>T (p.Ser3453Leu) c.9109-695C>T (n.9109-695C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304528G>C | CA342070561 | FLG | c.10358C>G (p.Ser3453Trp) c.9109-695C>G (n.9109-695C>G) | gnomAD v4 |
| 1 | g.152304528G= | CA2479947490 | FLG | c.10358C= (p.Ser3453=) c.9109-695C= (n.9109-695C=) | |
| 1 | g.152304528G>T | CA342070562 | FLG | c.10358C>A (p.Ser3453Ter) c.9109-695C>A (n.9109-695C>A) | |
| 1 | g.152304529A= | CA2479947491 | FLG | c.10357T= (p.Ser3453=) c.9109-696T= (n.9109-696T=) | |
| 1 | g.152304529A>C | CA342070569 | FLG | c.10357T>G (p.Ser3453Ala) c.9109-696T>G (n.9109-696T>G) | |
| 1 | g.152304529A>G | CA342070571 | FLG | c.10357T>C (p.Ser3453Pro) c.9109-696T>C (n.9109-696T>C) | gnomAD v4 |
| 1 | g.152304529A>T | CA1103389 | FLG | c.10357T>A (p.Ser3453Thr) c.9109-696T>A (n.9109-696T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304530T>A | CA1103391 | FLG | c.10356A>T (p.Gln3452His) c.9109-697A>T (n.9109-697A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304530T>C | CA420926821 | FLG | c.10356A>G (p.Gln3452=) c.9109-697A>G (n.9109-697A>G) | |
| 1 | g.152304530T>G | CA342070587 | FLG | c.10356A>C (p.Gln3452His) c.9109-697A>C (n.9109-697A>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304530T= | CA2479947492 | FLG | c.10356A= (p.Gln3452=) c.9109-697A= (n.9109-697A=) | |
| 1 | g.152304531T>A | CA342070591 | FLG | c.10355A>T (p.Gln3452Leu) c.9109-698A>T (n.9109-698A>T) | |
| 1 | g.152304531T>C | CA342070599 | FLG | c.10355A>G (p.Gln3452Arg) c.9109-698A>G (n.9109-698A>G) | |
| 1 | g.152304531T>G | CA342070595 | FLG | c.10355A>C (p.Gln3452Pro) c.9109-698A>C (n.9109-698A>C) | |
| 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.152304532G>A | CA342070602 | FLG | c.10354C>T (p.Gln3452Ter) c.9109-699C>T (n.9109-699C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304532G>C | CA342070607 | FLG | c.10354C>G (p.Gln3452Glu) c.9109-699C>G (n.9109-699C>G) | |
| 1 | g.152304532G= | CA2479947493 | FLG | c.10354C= (p.Gln3452=) c.9109-699C= (n.9109-699C=) | |
| 1 | g.152304532G>T | CA342070611 | FLG | c.10354C>A (p.Gln3452Lys) c.9109-699C>A (n.9109-699C>A) | gnomAD v4 |
| 1 | g.152304533C>A | CA1103392 | FLG | c.10353G>T (p.Glu3451Asp) c.9109-700G>T (n.9109-700G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304533C= | CA2479947494 | FLG | c.10353G= (p.Glu3451=) c.9109-700G= (n.9109-700G=) | |
| 1 | g.152304533C>G | CA342070617 | FLG | c.10353G>C (p.Glu3451Asp) c.9109-700G>C (n.9109-700G>C) | |
| 1 | g.152304533C>T | CA30600996 | FLG | c.10353G>A (p.Glu3451=) c.9109-700G>A (n.9109-700G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304534T>A | CA342070620 | FLG | c.10352A>T (p.Glu3451Val) c.9109-701A>T (n.9109-701A>T) | |
| 1 | g.152304534T>C | CA342070629 | FLG | c.10352A>G (p.Glu3451Gly) c.9109-701A>G (n.9109-701A>G) | |
| 1 | g.152304534T>G | CA342070632 | FLG | c.10352A>C (p.Glu3451Ala) c.9109-701A>C (n.9109-701A>C) | |
| 1 | g.152304535C>A | CA1103394 | FLG | c.10351G>T (p.Glu3451Ter) c.9109-702G>T (n.9109-702G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304535C= | CA1143749874 | FLG | c.10351G= (p.Glu3451=) c.9109-702G= (n.9109-702G=) | |
| 1 | g.152304535C>G | CA342070647 | FLG | c.10351G>C (p.Glu3451Gln) c.9109-702G>C (n.9109-702G>C) | |
| 1 | g.152304535C>T | CA1103393 | FLG | c.10351G>A (p.Glu3451Lys) c.9109-702G>A (n.9109-702G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304535_152304541dup | CA2647993504 | FLG | c.10345_10351dup (p.Glu3451AlafsTer8) c.9109-708_9109-702dup (n.9109-708_9109-702dup) | gnomAD v4 |
| 1 | g.152304536G>A | CA1103395 | FLG | c.10350C>T (p.Tyr3450=) c.9109-703C>T (n.9109-703C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304536G>C | CA1103396 | FLG | c.10350C>G (p.Tyr3450Ter) c.9109-703C>G (n.9109-703C>G) | dbSNP ExAC gnomAD v4 |
| 1 | g.152304536G= | CA2479947495 | FLG | c.10350C= (p.Tyr3450=) c.9109-703C= (n.9109-703C=) | |
| 1 | g.152304536G>T | CA342070667 | FLG | c.10350C>A (p.Tyr3450Ter) c.9109-703C>A (n.9109-703C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304537T>A | CA342070672 | FLG | c.10349A>T (p.Tyr3450Phe) c.9109-704A>T (n.9109-704A>T) | |
| 1 | g.152304537T>C | CA1103397 | FLG | c.10349A>G (p.Tyr3450Cys) c.9109-704A>G (n.9109-704A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304537T>G | CA342070675 | FLG | c.10349A>C (p.Tyr3450Ser) c.9109-704A>C (n.9109-704A>C) | |
| 1 | g.152304537T= | CA2479947496 | FLG | c.10349A= (p.Tyr3450=) c.9109-704A= (n.9109-704A=) | |
| 1 | g.152304538A= | CA1143472838 | FLG | c.10348T= (p.Tyr3450=) c.9109-705T= (n.9109-705T=) | |
| 1 | g.152304538A>C | CA342070697 | FLG | c.10348T>G (p.Tyr3450Asp) c.9109-705T>G (n.9109-705T>G) | |
| 1 | g.152304538A>G | CA1103398 | FLG | c.10348T>C (p.Tyr3450His) c.9109-705T>C (n.9109-705T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304538A>T | CA342070710 | FLG | c.10348T>A (p.Tyr3450Asn) c.9109-705T>A (n.9109-705T>A) | |
| 1 | g.152304539G>A | CA30601005 | FLG | c.10347C>T (p.His3449=) c.9109-706C>T (n.9109-706C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304539G>C | CA1103399 | FLG | c.10347C>G (p.His3449Gln) c.9109-706C>G (n.9109-706C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304539G= | CA2479947497 | FLG | c.10347C= (p.His3449=) c.9109-706C= (n.9109-706C=) | |
| 1 | g.152304539G>T | CA342070717 | FLG | c.10347C>A (p.His3449Gln) c.9109-706C>A (n.9109-706C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304540T>A | CA342070722 | FLG | c.10346A>T (p.His3449Leu) c.9109-707A>T (n.9109-707A>T) | |
| 1 | g.152304540T>C | CA30601007 | FLG | c.10346A>G (p.His3449Arg) c.9109-707A>G (n.9109-707A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304540T>G | CA342070728 | FLG | c.10346A>C (p.His3449Pro) c.9109-707A>C (n.9109-707A>C) | |
| 1 | g.152304540T= | CA1145117378 | FLG | c.10346A= (p.His3449=) c.9109-707A= (n.9109-707A=) | |
| 1 | g.152304541G>A | CA1103400 | FLG | c.10345C>T (p.His3449Tyr) c.9109-708C>T (n.9109-708C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304541G>C | CA342070742 | FLG | c.10345C>G (p.His3449Asp) c.9109-708C>G (n.9109-708C>G) | |
| 1 | g.152304541G= | CA2479947498 | FLG | c.10345C= (p.His3449=) c.9109-708C= (n.9109-708C=) | |
| 1 | g.152304541G>T | CA342070743 | FLG | c.10345C>A (p.His3449Asn) c.9109-708C>A (n.9109-708C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304542G>A | CA1103401 | FLG | c.10344C>T (p.Ser3448=) c.9109-709C>T (n.9109-709C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304542G>C | CA420926850 | FLG | c.10344C>G (p.Ser3448=) c.9109-709C>G (n.9109-709C>G) | |
| 1 | g.152304542G= | CA2479947499 | FLG | c.10344C= (p.Ser3448=) c.9109-709C= (n.9109-709C=) | |
| 1 | g.152304542G>T | CA420926848 | FLG | c.10344C>A (p.Ser3448=) c.9109-709C>A (n.9109-709C>A) | |
| 1 | g.152304543G>A | CA342070751 | FLG | c.10343C>T (p.Ser3448Phe) c.9109-710C>T (n.9109-710C>T) | |
| 1 | g.152304543G>C | CA342070745 | FLG | c.10343C>G (p.Ser3448Cys) c.9109-710C>G (n.9109-710C>G) | |
| 1 | g.152304543G= | CA2479947500 | FLG | c.10343C= (p.Ser3448=) c.9109-710C= (n.9109-710C=) | |
| 1 | g.152304543G>T | CA1103402 | FLG | c.10343C>A (p.Ser3448Tyr) c.9109-710C>A (n.9109-710C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304545_152304568del | CA2604727343 | FLG | c.10320_10343del (p.Ser3441_Ser3448del) c.9109-733_9109-710del (n.9109-733_9109-710del) | gnomAD v3 gnomAD v4 |
| 1 | g.152304544A>C | CA342070753 | FLG | c.10342T>G (p.Ser3448Ala) c.9109-711T>G (n.9109-711T>G) | |
| 1 | g.152304544A>G | CA342070755 | FLG | c.10342T>C (p.Ser3448Pro) c.9109-711T>C (n.9109-711T>C) | |
| 1 | g.152304544A>T | CA342070764 | FLG | c.10342T>A (p.Ser3448Thr) c.9109-711T>A (n.9109-711T>A) | gnomAD v4 |
| 1 | g.152304545T>A | CA1103404 | FLG | c.10341A>T (p.Gly3447=) c.9109-712A>T (n.9109-712A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304545T>C | CA1103403 | FLG | c.10341A>G (p.Gly3447=) c.9109-712A>G (n.9109-712A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304545T>G | CA420926856 | FLG | c.10341A>C (p.Gly3447=) c.9109-712A>C (n.9109-712A>C) | |
| 1 | g.152304545T= | CA1143530501 | FLG | c.10341A= (p.Gly3447=) c.9109-712A= (n.9109-712A=) | |
| 1 | g.152304545_152304548delinsTCCC | CA2479947501 | FLG | c.10338_10341delinsGGGA (p.Gln3446=) c.9109-715_9109-712delinsGGGA (n.9109-715_9109-712delinsGGGA) | |
| 1 | g.152304546C>A | CA342070776 | FLG | c.10340G>T (p.Gly3447Val) c.9109-713G>T (n.9109-713G>T) | |
| 1 | g.152304546C= | CA1141600138 | FLG | c.10340G= (p.Gly3447=) c.9109-713G= (n.9109-713G=) | |
| 1 | g.152304546C>G | CA342070781 | FLG | c.10340G>C (p.Gly3447Ala) c.9109-713G>C (n.9109-713G>C) | |
| 1 | g.152304546C>T | CA1103405 | FLG | c.10340G>A (p.Gly3447Glu) c.9109-713G>A (n.9109-713G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304546_152304548del | CA2479947502 | FLG | c.10338_10340del (p.Gly3447del) c.9109-715_9109-713del (n.9109-715_9109-713del) | dbSNP |
| 1 | g.152304547C>A | CA342070789 | FLG | c.10339G>T (p.Gly3447Ter) c.9109-714G>T (n.9109-714G>T) | gnomAD v4 |
| 1 | g.152304547C= | CA1143533505 | FLG | c.10339G= (p.Gly3447=) c.9109-714G= (n.9109-714G=) | |
| 1 | g.152304547C>G | CA342070796 | FLG | c.10339G>C (p.Gly3447Arg) c.9109-714G>C (n.9109-714G>C) | |
| 1 | g.152304547C>T | CA1103406 | FLG | c.10339G>A (p.Gly3447Arg) c.9109-714G>A (n.9109-714G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304548C>A | CA342070809 | FLG | c.10338G>T (p.Gln3446His) c.9109-715G>T (n.9109-715G>T) | |
| 1 | g.152304548C= | CA2479947503 | FLG | c.10338G= (p.Gln3446=) c.9109-715G= (n.9109-715G=) | |
| 1 | g.152304548C>G | CA342070824 | FLG | c.10338G>C (p.Gln3446His) c.9109-715G>C (n.9109-715G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304548C>T | CA420926858 | FLG | c.10338G>A (p.Gln3446=) c.9109-715G>A (n.9109-715G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304549T>A | CA342070831 | FLG | c.10337A>T (p.Gln3446Leu) c.9109-716A>T (n.9109-716A>T) | dbSNP |
| 1 | g.152304549T>C | CA342070838 | FLG | c.10337A>G (p.Gln3446Arg) c.9109-716A>G (n.9109-716A>G) | |
| 1 | g.152304549T>G | CA342070840 | FLG | c.10337A>C (p.Gln3446Pro) c.9109-716A>C (n.9109-716A>C) | |
| 1 | g.152304549T= | CA2479947504 | FLG | c.10337A= (p.Gln3446=) c.9109-716A= (n.9109-716A=) | |
| 1 | g.152304550G>A | CA342070843 | FLG | c.10336C>T (p.Gln3446Ter) c.9109-717C>T (n.9109-717C>T) | |
| 1 | g.152304550G>C | CA1103407 | FLG | c.10336C>G (p.Gln3446Glu) c.9109-717C>G (n.9109-717C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304550G= | CA1148463048 | FLG | c.10336C= (p.Gln3446=) c.9109-717C= (n.9109-717C=) | |
| 1 | g.152304550G>T | CA342070844 | FLG | c.10336C>A (p.Gln3446Lys) c.9109-717C>A (n.9109-717C>A) | COSMIC |
| 1 | g.152304551C>A | CA342070845 | FLG | c.10335G>T (p.Arg3445Ser) c.9109-718G>T (n.9109-718G>T) | |
| 1 | g.152304551C= | CA1147349798 | FLG | c.10335G= (p.Arg3445=) c.9109-718G= (n.9109-718G=) | |
| 1 | g.152304551C>G | CA1103408 | FLG | c.10335G>C (p.Arg3445Ser) c.9109-718G>C (n.9109-718G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304551C>T | CA1103409 | FLG | c.10335G>A (p.Arg3445=) c.9109-718G>A (n.9109-718G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304552del | CA2647993506 | FLG | c.10335del (p.Arg3445SerfsTer10) c.9109-718del (n.9109-718del) | gnomAD v4 |
| 1 | g.152304552C>A | CA342070864 | FLG | c.10334G>T (p.Arg3445Met) c.9109-719G>T (n.9109-719G>T) | |
| 1 | g.152304552C= | CA2479947505 | FLG | c.10334G= (p.Arg3445=) c.9109-719G= (n.9109-719G=) | |
| 1 | g.152304552C>G | CA342070867 | FLG | c.10334G>C (p.Arg3445Thr) c.9109-719G>C (n.9109-719G>C) | |
| 1 | g.152304552C>T | CA342070869 | FLG | c.10334G>A (p.Arg3445Lys) c.9109-719G>A (n.9109-719G>A) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304553T>A | CA342070879 | FLG | c.10333A>T (p.Arg3445Trp) c.9109-720A>T (n.9109-720A>T) | gnomAD v4 |
| 1 | g.152304553T>C | CA342070873 | FLG | c.10333A>G (p.Arg3445Gly) c.9109-720A>G (n.9109-720A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304553T>G | CA420926875 | FLG | c.10333A>C (p.Arg3445=) c.9109-720A>C (n.9109-720A>C) | |
| 1 | g.152304553T= | CA2479947506 | FLG | c.10333A= (p.Arg3445=) c.9109-720A= (n.9109-720A=) | |
| 1 | g.152304554T>A | CA420926877 | FLG | c.10332A>T (p.Gly3444=) c.9109-721A>T (n.9109-721A>T) | |
| 1 | g.152304554T>C | CA420926878 | FLG | c.10332A>G (p.Gly3444=) c.9109-721A>G (n.9109-721A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304554T>G | CA420926879 | FLG | c.10332A>C (p.Gly3444=) c.9109-721A>C (n.9109-721A>C) | |
| 1 | g.152304554T= | CA2479947507 | FLG | c.10332A= (p.Gly3444=) c.9109-721A= (n.9109-721A=) | |
| 1 | g.152304554_152304555delinsAT | CA645537913 | FLG | c.10331_10332delinsAT (p.Gly3444Asp) c.9109-722_9109-721delinsAT (n.9109-722_9109-721delinsAT) | COSMIC |
| 1 | g.152304555C>A | CA1103410 | FLG | c.10331G>T (p.Gly3444Val) c.9109-722G>T (n.9109-722G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304555C= | CA2479947508 | FLG | c.10331G= (p.Gly3444=) c.9109-722G= (n.9109-722G=) | |
| 1 | g.152304555C>G | CA1103411 | FLG | c.10331G>C (p.Gly3444Ala) c.9109-722G>C (n.9109-722G>C) | dbSNP ExAC gnomAD v4 |
| 1 | g.152304555C>T | CA342070890 | FLG | c.10331G>A (p.Gly3444Glu) c.9109-722G>A (n.9109-722G>A) | gnomAD v4 COSMIC |
| 1 | g.152304556C>A | CA342070893 | FLG | c.10330G>T (p.Gly3444Ter) c.9109-723G>T (n.9109-723G>T) | gnomAD v4 |
| 1 | g.152304556C= | CA2479947509 | FLG | c.10330G= (p.Gly3444=) c.9109-723G= (n.9109-723G=) | |
| 1 | g.152304556C>G | CA342070897 | FLG | c.10330G>C (p.Gly3444Arg) c.9109-723G>C (n.9109-723G>C) | |
| 1 | g.152304556C>T | CA342070903 | FLG | c.10330G>A (p.Gly3444Arg) c.9109-723G>A (n.9109-723G>A) | dbSNP gnomAD v4 |
| 1 | g.152304557T>A | CA1103412 | FLG | c.10329A>T (p.Arg3443Ser) c.9109-724A>T (n.9109-724A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304557T>C | CA30601079 | FLG | c.10329A>G (p.Arg3443=) c.9109-724A>G (n.9109-724A>G) | dbSNP gnomAD v2 |
| 1 | g.152304557T>G | CA342070920 | FLG | c.10329A>C (p.Arg3443Ser) c.9109-724A>C (n.9109-724A>C) | |
| 1 | g.152304557T= | CA2479947510 | FLG | c.10329A= (p.Arg3443=) c.9109-724A= (n.9109-724A=) | |
| 1 | g.152304558del | CA2647993507 | FLG | c.10328del (p.Arg3443LysfsTer12) c.9109-725del (n.9109-725del) | gnomAD v4 |
| 1 | g.152304558C>A | CA1103413 | FLG | c.10328G>T (p.Arg3443Ile) c.9109-725G>T (n.9109-725G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304558C= | CA2479947511 | FLG | c.10328G= (p.Arg3443=) c.9109-725G= (n.9109-725G=) | |
| 1 | g.152304558C>G | CA342070925 | FLG | c.10328G>C (p.Arg3443Thr) c.9109-725G>C (n.9109-725G>C) | |
| 1 | g.152304558C>T | CA1103414 | FLG | c.10328G>A (p.Arg3443Lys) c.9109-725G>A (n.9109-725G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304559T>A | CA342070933 | FLG | c.10327A>T (p.Arg3443Ter) c.9109-726A>T (n.9109-726A>T) | |
| 1 | g.152304559T>C | CA1103415 | FLG | c.10327A>G (p.Arg3443Gly) c.9109-726A>G (n.9109-726A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304559T>G | CA420926882 | FLG | c.10327A>C (p.Arg3443=) c.9109-726A>C (n.9109-726A>C) | gnomAD v4 |
| 1 | g.152304559T= | CA1146292040 | FLG | c.10327A= (p.Arg3443=) c.9109-726A= (n.9109-726A=) | |
| 1 | g.152304560T>A | CA1103416 | FLG | c.10326A>T (p.Arg3442Ser) c.9109-727A>T (n.9109-727A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304560T>C | CA420926883 | FLG | c.10326A>G (p.Arg3442=) c.9109-727A>G (n.9109-727A>G) | |
| 1 | g.152304560T>G | CA342070938 | FLG | c.10326A>C (p.Arg3442Ser) c.9109-727A>C (n.9109-727A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304560T= | CA1147834764 | FLG | c.10326A= (p.Arg3442=) c.9109-727A= (n.9109-727A=) | |
| 1 | g.152304561C>A | CA342070940 | FLG | c.10325G>T (p.Arg3442Ile) c.9109-728G>T (n.9109-728G>T) | |
| 1 | g.152304561C>G | CA342070944 | FLG | c.10325G>C (p.Arg3442Thr) c.9109-728G>C (n.9109-728G>C) | |
| 1 | g.152304561C>T | CA342070941 | FLG | c.10325G>A (p.Arg3442Lys) c.9109-728G>A (n.9109-728G>A) | gnomAD v4 COSMIC |
| 1 | g.152304562T>A | CA1103417 | FLG | c.10324A>T (p.Arg3442Ter) c.9109-729A>T (n.9109-729A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304562T>C | CA342070947 | FLG | c.10324A>G (p.Arg3442Gly) c.9109-729A>G (n.9109-729A>G) | |
| 1 | g.152304562T>G | CA420926884 | FLG | c.10324A>C (p.Arg3442=) c.9109-729A>C (n.9109-729A>C) | COSMIC |
| 1 | g.152304562T= | CA2479947512 | FLG | c.10324A= (p.Arg3442=) c.9109-729A= (n.9109-729A=) | |
| 1 | g.152304563G>A | CA420926885 | FLG | c.10323C>T (p.Ser3441=) c.9109-730C>T (n.9109-730C>T) | gnomAD v4 |
| 1 | g.152304563G>C | CA342070949 | FLG | c.10323C>G (p.Ser3441Arg) c.9109-730C>G (n.9109-730C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304563G= | CA2479947513 | FLG | c.10323C= (p.Ser3441=) c.9109-730C= (n.9109-730C=) | |
| 1 | g.152304563G>T | CA30601099 | FLG | c.10323C>A (p.Ser3441Arg) c.9109-730C>A (n.9109-730C>A) | dbSNP gnomAD v3 gnomAD v4 |