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.152303331_152303350dup | CA2647993394 | FLG | c.11537_11556dup (p.Ser3853AlafsTer?) c.9593_9612dup (p.Ser3205AlafsTer?) | gnomAD v4 |
| 1 | g.152303334G>A | CA1102865 | FLG | c.11552C>T (p.Ala3851Val) c.9608C>T (p.Ala3203Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303334G>C | CA342057084 | FLG | c.11552C>G (p.Ala3851Gly) c.9608C>G (p.Ala3203Gly) | |
| 1 | g.152303334G= | CA1142368541 | FLG | c.11552C= (p.Ala3851=) c.9608C= (p.Ala3203=) | |
| 1 | g.152303334G>T | CA342057082 | FLG | c.11552C>A (p.Ala3851Glu) c.9608C>A (p.Ala3203Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303335C>A | CA342057093 | FLG | c.11551G>T (p.Ala3851Ser) c.9607G>T (p.Ala3203Ser) | COSMIC |
| 1 | g.152303335C>G | CA342057098 | FLG | c.11551G>C (p.Ala3851Pro) c.9607G>C (p.Ala3203Pro) | gnomAD v4 COSMIC |
| 1 | g.152303335C>T | CA342057102 | FLG | c.11551G>A (p.Ala3851Thr) c.9607G>A (p.Ala3203Thr) | |
| 1 | g.152303336T>A | CA420925956 | FLG | c.11550A>T (p.Ser3850=) c.9606A>T (p.Ser3202=) | dbSNP gnomAD v4 |
| 1 | g.152303336T>C | CA420925957 | FLG | c.11550A>G (p.Ser3850=) c.9606A>G (p.Ser3202=) | gnomAD v4 COSMIC |
| 1 | g.152303336T>G | CA420925955 | FLG | c.11550A>C (p.Ser3850=) c.9606A>C (p.Ser3202=) | |
| 1 | g.152303336T= | CA2479946919 | FLG | c.11550A= (p.Ser3850=) c.9606A= (p.Ser3202=) | |
| 1 | g.152303337G>A | CA342057106 | FLG | c.11549C>T (p.Ser3850Leu) c.9605C>T (p.Ser3202Leu) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303337G>C | CA342057108 | FLG | c.11549C>G (p.Ser3850Ter) c.9605C>G (p.Ser3202Ter) | |
| 1 | g.152303337G= | CA2479946920 | FLG | c.11549C= (p.Ser3850=) c.9605C= (p.Ser3202=) | |
| 1 | g.152303337G>T | CA342057110 | FLG | c.11549C>A (p.Ser3850Ter) c.9605C>A (p.Ser3202Ter) | |
| 1 | g.152303338A>C | CA342057112 | FLG | c.11548T>G (p.Ser3850Ala) c.9604T>G (p.Ser3202Ala) | |
| 1 | g.152303338A>G | CA342057115 | FLG | c.11548T>C (p.Ser3850Pro) c.9604T>C (p.Ser3202Pro) | |
| 1 | g.152303338A>T | CA342057117 | FLG | c.11548T>A (p.Ser3850Thr) c.9604T>A (p.Ser3202Thr) | |
| 1 | g.152303339T>A | CA342057120 | FLG | c.11547A>T (p.Glu3849Asp) c.9603A>T (p.Glu3201Asp) | |
| 1 | g.152303339T>C | CA1102866 | FLG | c.11547A>G (p.Glu3849=) c.9603A>G (p.Glu3201=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303339T>G | CA342057124 | FLG | c.11547A>C (p.Glu3849Asp) c.9603A>C (p.Glu3201Asp) | |
| 1 | g.152303339T= | CA2479946921 | FLG | c.11547A= (p.Glu3849=) c.9603A= (p.Glu3201=) | |
| 1 | g.152303340T>A | CA342057131 | FLG | c.11546A>T (p.Glu3849Val) c.9602A>T (p.Glu3201Val) | gnomAD v4 |
| 1 | g.152303340T>C | CA342057130 | FLG | c.11546A>G (p.Glu3849Gly) c.9602A>G (p.Glu3201Gly) | |
| 1 | g.152303340T>G | CA342057128 | FLG | c.11546A>C (p.Glu3849Ala) c.9602A>C (p.Glu3201Ala) | |
| 1 | g.152303341C>A | CA342057133 | FLG | c.11545G>T (p.Glu3849Ter) c.9601G>T (p.Glu3201Ter) | gnomAD v4 |
| 1 | g.152303341C= | CA2479946922 | FLG | c.11545G= (p.Glu3849=) c.9601G= (p.Glu3201=) | |
| 1 | g.152303341C>G | CA342057135 | FLG | c.11545G>C (p.Glu3849Gln) c.9601G>C (p.Glu3201Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303341C>T | CA342057137 | FLG | c.11545G>A (p.Glu3849Lys) c.9601G>A (p.Glu3201Lys) | dbSNP COSMIC |
| 1 | g.152303342_152303344del | CA2574057943 | FLG | c.11543_11545del (p.Gly3848del) c.9599_9601del (p.Gly3200del) | gnomAD v4 |
| 1 | g.152303342A= | CA2479946923 | FLG | c.11544T= (p.Gly3848=) c.9600T= (p.Gly3200=) | |
| 1 | g.152303342A>C | CA420925958 | FLG | c.11544T>G (p.Gly3848=) c.9600T>G (p.Gly3200=) | |
| 1 | g.152303342A>G | CA420925960 | FLG | c.11544T>C (p.Gly3848=) c.9600T>C (p.Gly3200=) | dbSNP |
| 1 | g.152303342A>T | CA420925959 | FLG | c.11544T>A (p.Gly3848=) c.9600T>A (p.Gly3200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303343C>A | CA1102867 | FLG | c.11543G>T (p.Gly3848Val) c.9599G>T (p.Gly3200Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303343C= | CA2479946924 | FLG | c.11543G= (p.Gly3848=) c.9599G= (p.Gly3200=) | |
| 1 | g.152303343C>G | CA342057144 | FLG | c.11543G>C (p.Gly3848Ala) c.9599G>C (p.Gly3200Ala) | |
| 1 | g.152303343C>T | CA342057146 | FLG | c.11543G>A (p.Gly3848Asp) c.9599G>A (p.Gly3200Asp) | |
| 1 | g.152303344C>A | CA342057152 | FLG | c.11542G>T (p.Gly3848Cys) c.9598G>T (p.Gly3200Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303344C= | CA1143938459 | FLG | c.11542G= (p.Gly3848=) c.9598G= (p.Gly3200=) | |
| 1 | g.152303344C>G | CA30597146 | FLG | c.11542G>C (p.Gly3848Arg) c.9598G>C (p.Gly3200Arg) | dbSNP gnomAD v4 |
| 1 | g.152303344C>T | CA342057150 | FLG | c.11542G>A (p.Gly3848Ser) c.9598G>A (p.Gly3200Ser) | dbSNP gnomAD v4 |
| 1 | g.152303345C>A | CA342057155 | FLG | c.11541G>T (p.Gln3847His) c.9597G>T (p.Gln3199His) | |
| 1 | g.152303345C= | CA1148560308 | FLG | c.11541G= (p.Gln3847=) c.9597G= (p.Gln3199=) | |
| 1 | g.152303345C>G | CA1102868 | FLG | c.11541G>C (p.Gln3847His) c.9597G>C (p.Gln3199His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303345C>T | CA420925961 | FLG | c.11541G>A (p.Gln3847=) c.9597G>A (p.Gln3199=) | gnomAD v4 |
| 1 | g.152303346T>A | CA342057160 | FLG | c.11540A>T (p.Gln3847Leu) c.9596A>T (p.Gln3199Leu) | |
| 1 | g.152303346T>C | CA342057162 | FLG | c.11540A>G (p.Gln3847Arg) c.9596A>G (p.Gln3199Arg) | |
| 1 | g.152303346T>G | CA342057164 | FLG | c.11540A>C (p.Gln3847Pro) c.9596A>C (p.Gln3199Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303346T= | CA2479946925 | FLG | c.11540A= (p.Gln3847=) c.9596A= (p.Gln3199=) | |
| 1 | g.152303347G>A | CA342057167 | FLG | c.11539C>T (p.Gln3847Ter) c.9595C>T (p.Gln3199Ter) | ClinVar dbSNP |
| 1 | g.152303347G>C | CA342057170 | FLG | c.11539C>G (p.Gln3847Glu) c.9595C>G (p.Gln3199Glu) | gnomAD v4 |
| 1 | g.152303347G= | CA2479946926 | FLG | c.11539C= (p.Gln3847=) c.9595C= (p.Gln3199=) | |
| 1 | g.152303347G>T | CA342057169 | FLG | c.11539C>A (p.Gln3847Lys) c.9595C>A (p.Gln3199Lys) | gnomAD v4 |
| 1 | g.152303348G>A | CA420925962 | FLG | c.11538C>T (p.Gly3846=) c.9594C>T (p.Gly3198=) | dbSNP |
| 1 | g.152303348G>C | CA30597196 | FLG | c.11538C>G (p.Gly3846=) c.9594C>G (p.Gly3198=) | dbSNP |
| 1 | g.152303348G= | CA2479946927 | FLG | c.11538C= (p.Gly3846=) c.9594C= (p.Gly3198=) | |
| 1 | g.152303348G>T | CA420925963 | FLG | c.11538C>A (p.Gly3846=) c.9594C>A (p.Gly3198=) | gnomAD v4 |
| 1 | g.152303349C>A | CA1102870 | FLG | c.11537G>T (p.Gly3846Val) c.9593G>T (p.Gly3198Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303349C= | CA1143506861 | FLG | c.11537G= (p.Gly3846=) c.9593G= (p.Gly3198=) | |
| 1 | g.152303349C>G | CA342057174 | FLG | c.11537G>C (p.Gly3846Ala) c.9593G>C (p.Gly3198Ala) | |
| 1 | g.152303349C>T | CA1102869 | FLG | c.11537G>A (p.Gly3846Asp) c.9593G>A (p.Gly3198Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303350C>A | CA1102872 | FLG | c.11536G>T (p.Gly3846Cys) c.9592G>T (p.Gly3198Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303350C= | CA1141916558 | FLG | c.11536G= (p.Gly3846=) c.9592G= (p.Gly3198=) | |
| 1 | g.152303350C>G | CA342057181 | FLG | c.11536G>C (p.Gly3846Arg) c.9592G>C (p.Gly3198Arg) | |
| 1 | g.152303350C>T | CA1102871 | FLG | c.11536G>A (p.Gly3846Ser) c.9592G>A (p.Gly3198Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303351G>A | CA1102873 | FLG | c.11535C>T (p.Ser3845=) c.9591C>T (p.Ser3197=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303351G>C | CA30597231 | FLG | c.11535C>G (p.Ser3845=) c.9591C>G (p.Ser3197=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303351G= | CA1147040431 | FLG | c.11535C= (p.Ser3845=) c.9591C= (p.Ser3197=) | |
| 1 | g.152303351G>T | CA420925964 | FLG | c.11535C>A (p.Ser3845=) c.9591C>A (p.Ser3197=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303352G>A | CA342057187 | FLG | c.11534C>T (p.Ser3845Phe) c.9590C>T (p.Ser3197Phe) | dbSNP |
| 1 | g.152303352G>C | CA342057188 | FLG | c.11534C>G (p.Ser3845Cys) c.9590C>G (p.Ser3197Cys) | gnomAD v4 |
| 1 | g.152303352G= | CA2479946928 | FLG | c.11534C= (p.Ser3845=) c.9590C= (p.Ser3197=) | |
| 1 | g.152303352G>T | CA342057190 | FLG | c.11534C>A (p.Ser3845Tyr) c.9590C>A (p.Ser3197Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303353A= | CA2479946929 | FLG | c.11533T= (p.Ser3845=) c.9589T= (p.Ser3197=) | |
| 1 | g.152303353A>C | CA342057197 | FLG | c.11533T>G (p.Ser3845Ala) c.9589T>G (p.Ser3197Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303353A>G | CA342057194 | FLG | c.11533T>C (p.Ser3845Pro) c.9589T>C (p.Ser3197Pro) | |
| 1 | g.152303353A>T | CA342057193 | FLG | c.11533T>A (p.Ser3845Thr) c.9589T>A (p.Ser3197Thr) | |
| 1 | g.152303354C>A | CA342057205 | FLG | c.11532G>T (p.Gln3844His) c.9588G>T (p.Gln3196His) | |
| 1 | g.152303354C= | CA2479946931 | FLG | c.11532G= (p.Gln3844=) c.9588G= (p.Gln3196=) | |
| 1 | g.152303354C>G | CA342057203 | FLG | c.11532G>C (p.Gln3844His) c.9588G>C (p.Gln3196His) | |
| 1 | g.152303354C>T | CA420925965 | FLG | c.11532G>A (p.Gln3844=) c.9588G>A (p.Gln3196=) | dbSNP gnomAD v4 |
| 1 | g.152303354_152303356delinsCTG | CA2479946930 | FLG | c.11530_11532delinsCAG (p.Gln3844=) c.9586_9588delinsCAG (p.Gln3196=) | |
| 1 | g.152303355T>A | CA342057216 | FLG | c.11531A>T (p.Gln3844Leu) c.9587A>T (p.Gln3196Leu) | |
| 1 | g.152303355T>C | CA342057211 | FLG | c.11531A>G (p.Gln3844Arg) c.9587A>G (p.Gln3196Arg) | gnomAD v4 |
| 1 | g.152303355T>G | CA342057218 | FLG | c.11531A>C (p.Gln3844Pro) c.9587A>C (p.Gln3196Pro) | gnomAD v4 |
| 1 | g.152303357_152303358del | CA526662115 | FLG | c.11530_11531del (p.Gln3844ValfsTer5) c.9586_9587del (p.Gln3196ValfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303356G>A | CA1102875 | FLG | c.11530C>T (p.Gln3844Ter) c.9586C>T (p.Gln3196Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303356G>C | CA1102874 | FLG | c.11530C>G (p.Gln3844Glu) c.9586C>G (p.Gln3196Glu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303356G= | CA2479946932 | FLG | c.11530C= (p.Gln3844=) c.9586C= (p.Gln3196=) | |
| 1 | g.152303356G>T | CA342057225 | FLG | c.11530C>A (p.Gln3844Lys) c.9586C>A (p.Gln3196Lys) | |
| 1 | g.152303357T>A | CA420925967 | FLG | c.11529A>T (p.Ser3843=) c.9585A>T (p.Ser3195=) | |
| 1 | g.152303357T>C | CA420925968 | FLG | c.11529A>G (p.Ser3843=) c.9585A>G (p.Ser3195=) | |
| 1 | g.152303357T>G | CA420925966 | FLG | c.11529A>C (p.Ser3843=) c.9585A>C (p.Ser3195=) | dbSNP gnomAD v4 |
| 1 | g.152303357T= | CA2479946933 | FLG | c.11529A= (p.Ser3843=) c.9585A= (p.Ser3195=) | |
| 1 | g.152303358G>A | CA342057233 | FLG | c.11528C>T (p.Ser3843Leu) c.9584C>T (p.Ser3195Leu) | |
| 1 | g.152303358G>C | CA16042294 | FLG | c.11528C>G (p.Ser3843Ter) c.9584C>G (p.Ser3195Ter) | ClinVar dbSNP |
| 1 | g.152303358G= | CA2479946934 | FLG | c.11528C= (p.Ser3843=) c.9584C= (p.Ser3195=) | |
| 1 | g.152303358G>T | CA342057237 | FLG | c.11528C>A (p.Ser3843Ter) c.9584C>A (p.Ser3195Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303359A>C | CA342057244 | FLG | c.11527T>G (p.Ser3843Ala) c.9583T>G (p.Ser3195Ala) | |
| 1 | g.152303359A>G | CA342057247 | FLG | c.11527T>C (p.Ser3843Pro) c.9583T>C (p.Ser3195Pro) | gnomAD v4 |
| 1 | g.152303359A>T | CA342057250 | FLG | c.11527T>A (p.Ser3843Thr) c.9583T>A (p.Ser3195Thr) | |
| 1 | g.152303360G>A | CA420925969 | FLG | c.11526C>T (p.His3842=) c.9582C>T (p.His3194=) | |
| 1 | g.152303360G>C | CA342057253 | FLG | c.11526C>G (p.His3842Gln) c.9582C>G (p.His3194Gln) | |
| 1 | g.152303360G= | CA2479946935 | FLG | c.11526C= (p.His3842=) c.9582C= (p.His3194=) | |
| 1 | g.152303360G>T | CA342057257 | FLG | c.11526C>A (p.His3842Gln) c.9582C>A (p.His3194Gln) | dbSNP |
| 1 | g.152303361T>A | CA342057262 | FLG | c.11525A>T (p.His3842Leu) c.9581A>T (p.His3194Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303361T>C | CA342057267 | FLG | c.11525A>G (p.His3842Arg) c.9581A>G (p.His3194Arg) | |
| 1 | g.152303361T>G | CA342057269 | FLG | c.11525A>C (p.His3842Pro) c.9581A>C (p.His3194Pro) | |
| 1 | g.152303361T= | CA2479946936 | FLG | c.11525A= (p.His3842=) c.9581A= (p.His3194=) | |
| 1 | g.152303362G>A | CA342057276 | FLG | c.11524C>T (p.His3842Tyr) c.9580C>T (p.His3194Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303362G>C | CA342057271 | FLG | c.11524C>G (p.His3842Asp) c.9580C>G (p.His3194Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303362G= | CA2479946937 | FLG | c.11524C= (p.His3842=) c.9580C= (p.His3194=) | |
| 1 | g.152303362G>T | CA342057273 | FLG | c.11524C>A (p.His3842Asn) c.9580C>A (p.His3194Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303363T>A | CA342057279 | FLG | c.11523A>T (p.Arg3841Ser) c.9579A>T (p.Arg3193Ser) | |
| 1 | g.152303363T>C | CA420925978 | FLG | c.11523A>G (p.Arg3841=) c.9579A>G (p.Arg3193=) | |
| 1 | g.152303363T>G | CA342057281 | FLG | c.11523A>C (p.Arg3841Ser) c.9579A>C (p.Arg3193Ser) | |
| 1 | g.152303364C>A | CA342057285 | FLG | c.11522G>T (p.Arg3841Ile) c.9578G>T (p.Arg3193Ile) | |
| 1 | g.152303364C>G | CA342057286 | FLG | c.11522G>C (p.Arg3841Thr) c.9578G>C (p.Arg3193Thr) | |
| 1 | g.152303364C>T | CA342057292 | FLG | c.11522G>A (p.Arg3841Lys) c.9578G>A (p.Arg3193Lys) | |
| 1 | g.152303365T>A | CA342057295 | FLG | c.11521A>T (p.Arg3841Ter) c.9577A>T (p.Arg3193Ter) | |
| 1 | g.152303365T>C | CA342057298 | FLG | c.11521A>G (p.Arg3841Gly) c.9577A>G (p.Arg3193Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303365T>G | CA420925979 | FLG | c.11521A>C (p.Arg3841=) c.9577A>C (p.Arg3193=) | |
| 1 | g.152303365T= | CA2479946938 | FLG | c.11521A= (p.Arg3841=) c.9577A= (p.Arg3193=) | |
| 1 | g.152303366A= | CA2479946939 | FLG | c.11520T= (p.Ser3840=) c.9576T= (p.Ser3192=) | |
| 1 | g.152303366A>C | CA420925980 | FLG | c.11520T>G (p.Ser3840=) c.9576T>G (p.Ser3192=) | |
| 1 | g.152303366A>G | CA30597244 | FLG | c.11520T>C (p.Ser3840=) c.9576T>C (p.Ser3192=) | dbSNP gnomAD v4 |
| 1 | g.152303366A>T | CA420925981 | FLG | c.11520T>A (p.Ser3840=) c.9576T>A (p.Ser3192=) | |
| 1 | g.152303367G>A | CA342057299 | FLG | c.11519C>T (p.Ser3840Phe) c.9575C>T (p.Ser3192Phe) | |
| 1 | g.152303367G>C | CA342057300 | FLG | c.11519C>G (p.Ser3840Cys) c.9575C>G (p.Ser3192Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303367G= | CA2479946940 | FLG | c.11519C= (p.Ser3840=) c.9575C= (p.Ser3192=) | |
| 1 | g.152303367G>T | CA342057301 | FLG | c.11519C>A (p.Ser3840Tyr) c.9575C>A (p.Ser3192Tyr) | |
| 1 | g.152303368A= | CA2479946941 | FLG | c.11518T= (p.Ser3840=) c.9574T= (p.Ser3192=) | |
| 1 | g.152303368A>C | CA342057305 | FLG | c.11518T>G (p.Ser3840Ala) c.9574T>G (p.Ser3192Ala) | |
| 1 | g.152303368A>G | CA342057308 | FLG | c.11518T>C (p.Ser3840Pro) c.9574T>C (p.Ser3192Pro) | |
| 1 | g.152303368A>T | CA342057302 | FLG | c.11518T>A (p.Ser3840Thr) c.9574T>A (p.Ser3192Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303369G>A | CA420925983 | FLG | c.11517C>T (p.Ser3839=) c.9573C>T (p.Ser3191=) | |
| 1 | g.152303369G>C | CA342057311 | FLG | c.11517C>G (p.Ser3839Arg) c.9573C>G (p.Ser3191Arg) | |
| 1 | g.152303369G>T | CA342057315 | FLG | c.11517C>A (p.Ser3839Arg) c.9573C>A (p.Ser3191Arg) | |
| 1 | g.152303370C>A | CA1102876 | FLG | c.11516G>T (p.Ser3839Ile) c.9572G>T (p.Ser3191Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303370C= | CA2479946942 | FLG | c.11516G= (p.Ser3839=) c.9572G= (p.Ser3191=) | |
| 1 | g.152303370C>G | CA342057327 | FLG | c.11516G>C (p.Ser3839Thr) c.9572G>C (p.Ser3191Thr) | |
| 1 | g.152303370C>T | CA342057329 | FLG | c.11516G>A (p.Ser3839Asn) c.9572G>A (p.Ser3191Asn) | gnomAD v4 |
| 1 | g.152303371T>A | CA342057345 | FLG | c.11515A>T (p.Ser3839Cys) c.9571A>T (p.Ser3191Cys) | |
| 1 | g.152303371T>C | CA1102877 | FLG | c.11515A>G (p.Ser3839Gly) c.9571A>G (p.Ser3191Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303371T>G | CA342057340 | FLG | c.11515A>C (p.Ser3839Arg) c.9571A>C (p.Ser3191Arg) | COSMIC |
| 1 | g.152303371T= | CA2479946943 | FLG | c.11515A= (p.Ser3839=) c.9571A= (p.Ser3191=) | |
| 1 | g.152303372G>A | CA420925985 | FLG | c.11514C>T (p.Asp3838=) c.9570C>T (p.Asp3190=) | |
| 1 | g.152303372G>C | CA1102878 | FLG | c.11514C>G (p.Asp3838Glu) c.9570C>G (p.Asp3190Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303372G= | CA2479946944 | FLG | c.11514C= (p.Asp3838=) c.9570C= (p.Asp3190=) | |
| 1 | g.152303372G>T | CA342057354 | FLG | c.11514C>A (p.Asp3838Glu) c.9570C>A (p.Asp3190Glu) | dbSNP gnomAD v4 |
| 1 | g.152303373T>A | CA342057356 | FLG | c.11513A>T (p.Asp3838Val) c.9569A>T (p.Asp3190Val) | gnomAD v4 |
| 1 | g.152303373T>C | CA342057359 | FLG | c.11513A>G (p.Asp3838Gly) c.9569A>G (p.Asp3190Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303373T>G | CA342057375 | FLG | c.11513A>C (p.Asp3838Ala) c.9569A>C (p.Asp3190Ala) | |
| 1 | g.152303373T= | CA2479946945 | FLG | c.11513A= (p.Asp3838=) c.9569A= (p.Asp3190=) | |
| 1 | g.152303374C>A | CA342057380 | FLG | c.11512G>T (p.Asp3838Tyr) c.9568G>T (p.Asp3190Tyr) | |
| 1 | g.152303374C>G | CA342057391 | FLG | c.11512G>C (p.Asp3838His) c.9568G>C (p.Asp3190His) | |
| 1 | g.152303374C>T | CA342057386 | FLG | c.11512G>A (p.Asp3838Asn) c.9568G>A (p.Asp3190Asn) | |
| 1 | g.152303375A= | CA2479946946 | FLG | c.11511T= (p.Ala3837=) c.9567T= (p.Ala3189=) | |
| 1 | g.152303375A>C | CA1102879 | FLG | c.11511T>G (p.Ala3837=) c.9567T>G (p.Ala3189=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303375A>G | CA420925988 | FLG | c.11511T>C (p.Ala3837=) c.9567T>C (p.Ala3189=) | dbSNP gnomAD v2 |
| 1 | g.152303375A>T | CA420925990 | FLG | c.11511T>A (p.Ala3837=) c.9567T>A (p.Ala3189=) | |
| 1 | g.152303376G>A | CA342057402 | FLG | c.11510C>T (p.Ala3837Val) c.9566C>T (p.Ala3189Val) | |
| 1 | g.152303376G>C | CA342057405 | FLG | c.11510C>G (p.Ala3837Gly) c.9566C>G (p.Ala3189Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303376G= | CA2479946947 | FLG | c.11510C= (p.Ala3837=) c.9566C= (p.Ala3189=) | |
| 1 | g.152303376G>T | CA342057408 | FLG | c.11510C>A (p.Ala3837Asp) c.9566C>A (p.Ala3189Asp) | |
| 1 | g.152303377C>A | CA342057415 | FLG | c.11509G>T (p.Ala3837Ser) c.9565G>T (p.Ala3189Ser) | |
| 1 | g.152303377C= | CA2479946948 | FLG | c.11509G= (p.Ala3837=) c.9565G= (p.Ala3189=) | |
| 1 | g.152303377C>G | CA342057418 | FLG | c.11509G>C (p.Ala3837Pro) c.9565G>C (p.Ala3189Pro) | dbSNP |
| 1 | g.152303377C>T | CA342057421 | FLG | c.11509G>A (p.Ala3837Thr) c.9565G>A (p.Ala3189Thr) | gnomAD v4 |
| 1 | g.152303378C>A | CA342057424 | FLG | c.11508G>T (p.Gln3836His) c.9564G>T (p.Gln3188His) | |
| 1 | g.152303378C>G | CA342057426 | FLG | c.11508G>C (p.Gln3836His) c.9564G>C (p.Gln3188His) | |
| 1 | g.152303378C>T | CA420925992 | FLG | c.11508G>A (p.Gln3836=) c.9564G>A (p.Gln3188=) | gnomAD v4 |
| 1 | g.152303379T>A | CA342057432 | FLG | c.11507A>T (p.Gln3836Leu) c.9563A>T (p.Gln3188Leu) | |
| 1 | g.152303379T>C | CA1102880 | FLG | c.11507A>G (p.Gln3836Arg) c.9563A>G (p.Gln3188Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303379T>G | CA342057437 | FLG | c.11507A>C (p.Gln3836Pro) c.9563A>C (p.Gln3188Pro) | gnomAD v4 |
| 1 | g.152303379T= | CA2479946949 | FLG | c.11507A= (p.Gln3836=) c.9563A= (p.Gln3188=) | |
| 1 | g.152303380G>A | CA342057449 | FLG | c.11506C>T (p.Gln3836Ter) c.9562C>T (p.Gln3188Ter) | dbSNP gnomAD v2 |
| 1 | g.152303380G>C | CA342057452 | FLG | c.11506C>G (p.Gln3836Glu) c.9562C>G (p.Gln3188Glu) | |
| 1 | g.152303380G= | CA2479946950 | FLG | c.11506C= (p.Gln3836=) c.9562C= (p.Gln3188=) | |
| 1 | g.152303380G>T | CA342057446 | FLG | c.11506C>A (p.Gln3836Lys) c.9562C>A (p.Gln3188Lys) | |
| 1 | g.152303381A>C | CA420925994 | FLG | c.11505T>G (p.Thr3835=) c.9561T>G (p.Thr3187=) | |
| 1 | g.152303381A>G | CA420925996 | FLG | c.11505T>C (p.Thr3835=) c.9561T>C (p.Thr3187=) | |
| 1 | g.152303381A>T | CA420925998 | FLG | c.11505T>A (p.Thr3835=) c.9561T>A (p.Thr3187=) | |
| 1 | g.152303382G>A | CA342057469 | FLG | c.11504C>T (p.Thr3835Ile) c.9560C>T (p.Thr3187Ile) | gnomAD v4 |
| 1 | g.152303382G>C | CA342057457 | FLG | c.11504C>G (p.Thr3835Ser) c.9560C>G (p.Thr3187Ser) | |
| 1 | g.152303382G>T | CA342057459 | FLG | c.11504C>A (p.Thr3835Asn) c.9560C>A (p.Thr3187Asn) | gnomAD v4 |
| 1 | g.152303383T>A | CA1102881 | FLG | c.11503A>T (p.Thr3835Ser) c.9559A>T (p.Thr3187Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303383T>C | CA342057474 | FLG | c.11503A>G (p.Thr3835Ala) c.9559A>G (p.Thr3187Ala) | COSMIC |
| 1 | g.152303383T>G | CA342057481 | FLG | c.11503A>C (p.Thr3835Pro) c.9559A>C (p.Thr3187Pro) | |
| 1 | g.152303383T= | CA2479946951 | FLG | c.11503A= (p.Thr3835=) c.9559A= (p.Thr3187=) | |
| 1 | g.152303384G>A | CA420925999 | FLG | c.11502C>T (p.Ser3834=) c.9558C>T (p.Ser3186=) | |
| 1 | g.152303384G>C | CA420926001 | FLG | c.11502C>G (p.Ser3834=) c.9558C>G (p.Ser3186=) | |
| 1 | g.152303384G>T | CA420926002 | FLG | c.11502C>A (p.Ser3834=) c.9558C>A (p.Ser3186=) | |
| 1 | g.152303385G>A | CA342057484 | FLG | c.11501C>T (p.Ser3834Phe) c.9557C>T (p.Ser3186Phe) | |
| 1 | g.152303385G>C | CA342057485 | FLG | c.11501C>G (p.Ser3834Cys) c.9557C>G (p.Ser3186Cys) | |
| 1 | g.152303385G>T | CA342057486 | FLG | c.11501C>A (p.Ser3834Tyr) c.9557C>A (p.Ser3186Tyr) | |
| 1 | g.152303386A>C | CA342057490 | FLG | c.11500T>G (p.Ser3834Ala) c.9556T>G (p.Ser3186Ala) | |
| 1 | g.152303386A>G | CA342057491 | FLG | c.11500T>C (p.Ser3834Pro) c.9556T>C (p.Ser3186Pro) | |
| 1 | g.152303386A>T | CA342057500 | FLG | c.11500T>A (p.Ser3834Thr) c.9556T>A (p.Ser3186Thr) | |
| 1 | g.152303387A= | CA2479946952 | FLG | c.11499T= (p.Ala3833=) c.9555T= (p.Ala3185=) | |
| 1 | g.152303387A>C | CA420926005 | FLG | c.11499T>G (p.Ala3833=) c.9555T>G (p.Ala3185=) | |
| 1 | g.152303387A>G | CA1102882 | FLG | c.11499T>C (p.Ala3833=) c.9555T>C (p.Ala3185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303387A>T | CA420926007 | FLG | c.11499T>A (p.Ala3833=) c.9555T>A (p.Ala3185=) | |
| 1 | g.152303388G>A | CA1102883 | FLG | c.11498C>T (p.Ala3833Val) c.9554C>T (p.Ala3185Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303388G>C | CA342057516 | FLG | c.11498C>G (p.Ala3833Gly) c.9554C>G (p.Ala3185Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303388G= | CA2479946953 | FLG | c.11498C= (p.Ala3833=) c.9554C= (p.Ala3185=) | |
| 1 | g.152303388G>T | CA342057510 | FLG | c.11498C>A (p.Ala3833Asp) c.9554C>A (p.Ala3185Asp) | |
| 1 | g.152303389C>A | CA342057523 | FLG | c.11497G>T (p.Ala3833Ser) c.9553G>T (p.Ala3185Ser) | |
| 1 | g.152303389C= | CA2479946954 | FLG | c.11497G= (p.Ala3833=) c.9553G= (p.Ala3185=) | |
| 1 | g.152303389C>G | CA342057527 | FLG | c.11497G>C (p.Ala3833Pro) c.9553G>C (p.Ala3185Pro) | |
| 1 | g.152303389C>T | CA342057531 | FLG | c.11497G>A (p.Ala3833Thr) c.9553G>A (p.Ala3185Thr) | dbSNP gnomAD v4 |
| 1 | g.152303390T>A | CA342057536 | FLG | c.11496A>T (p.Glu3832Asp) c.9552A>T (p.Glu3184Asp) | |
| 1 | g.152303390T>C | CA420926010 | FLG | c.11496A>G (p.Glu3832=) c.9552A>G (p.Glu3184=) | |
| 1 | g.152303390T>G | CA342057538 | FLG | c.11496A>C (p.Glu3832Asp) c.9552A>C (p.Glu3184Asp) | |
| 1 | g.152303391T>A | CA342057544 | FLG | c.11495A>T (p.Glu3832Val) c.9551A>T (p.Glu3184Val) | gnomAD v4 |
| 1 | g.152303391T>C | CA342057541 | FLG | c.11495A>G (p.Glu3832Gly) c.9551A>G (p.Glu3184Gly) | |
| 1 | g.152303391T>G | CA342057543 | FLG | c.11495A>C (p.Glu3832Ala) c.9551A>C (p.Glu3184Ala) | |
| 1 | g.152303392C>A | CA342057548 | FLG | c.11494G>T (p.Glu3832Ter) c.9550G>T (p.Glu3184Ter) | COSMIC |
| 1 | g.152303392C= | CA1141670430 | FLG | c.11494G= (p.Glu3832=) c.9550G= (p.Glu3184=) | |
| 1 | g.152303392C>G | CA342057551 | FLG | c.11494G>C (p.Glu3832Gln) c.9550G>C (p.Glu3184Gln) | |
| 1 | g.152303392C>T | CA1102884 | FLG | c.11494G>A (p.Glu3832Lys) c.9550G>A (p.Glu3184Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303393A= | CA2479946955 | FLG | c.11493T= (p.His3831=) c.9549T= (p.His3183=) | |
| 1 | g.152303393A>C | CA342057560 | FLG | c.11493T>G (p.His3831Gln) c.9549T>G (p.His3183Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303393A>G | CA420926014 | FLG | c.11493T>C (p.His3831=) c.9549T>C (p.His3183=) | |
| 1 | g.152303393A>T | CA342057562 | FLG | c.11493T>A (p.His3831Gln) c.9549T>A (p.His3183Gln) | |
| 1 | g.152303394T>A | CA342057569 | FLG | c.11492A>T (p.His3831Leu) c.9548A>T (p.His3183Leu) | |
| 1 | g.152303394T>C | CA342057566 | FLG | c.11492A>G (p.His3831Arg) c.9548A>G (p.His3183Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303394T>G | CA342057565 | FLG | c.11492A>C (p.His3831Pro) c.9548A>C (p.His3183Pro) | |
| 1 | g.152303394T= | CA2479946956 | FLG | c.11492A= (p.His3831=) c.9548A= (p.His3183=) | |
| 1 | g.152303395G>A | CA342057576 | FLG | c.11491C>T (p.His3831Tyr) c.9547C>T (p.His3183Tyr) | |
| 1 | g.152303395G>C | CA342057583 | FLG | c.11491C>G (p.His3831Asp) c.9547C>G (p.His3183Asp) | |
| 1 | g.152303395G>T | CA342057585 | FLG | c.11491C>A (p.His3831Asn) c.9547C>A (p.His3183Asn) | gnomAD v4 |
| 1 | g.152303396G>A | CA30597258 | FLG | c.11490C>T (p.His3830=) c.9546C>T (p.His3182=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303396G>C | CA342057607 | FLG | c.11490C>G (p.His3830Gln) c.9546C>G (p.His3182Gln) | gnomAD v4 |
| 1 | g.152303396G= | CA1143472837 | FLG | c.11490C= (p.His3830=) c.9546C= (p.His3182=) | |
| 1 | g.152303396G>T | CA342057608 | FLG | c.11490C>A (p.His3830Gln) c.9546C>A (p.His3182Gln) | gnomAD v4 |
| 1 | g.152303397T>A | CA342057610 | FLG | c.11489A>T (p.His3830Leu) c.9545A>T (p.His3182Leu) | gnomAD v4 |
| 1 | g.152303397T>C | CA342057613 | FLG | c.11489A>G (p.His3830Arg) c.9545A>G (p.His3182Arg) | COSMIC |
| 1 | g.152303397T>G | CA342057614 | FLG | c.11489A>C (p.His3830Pro) c.9545A>C (p.His3182Pro) | |
| 1 | g.152303398G>A | CA1102885 | FLG | c.11488C>T (p.His3830Tyr) c.9544C>T (p.His3182Tyr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303398G>C | CA342057617 | FLG | c.11488C>G (p.His3830Asp) c.9544C>G (p.His3182Asp) | |
| 1 | g.152303398G= | CA1144674251 | FLG | c.11488C= (p.His3830=) c.9544C= (p.His3182=) | |
| 1 | g.152303398G>T | CA342057618 | FLG | c.11488C>A (p.His3830Asn) c.9544C>A (p.His3182Asn) | |
| 1 | g.152303399A= | CA2479946957 | FLG | c.11487T= (p.Arg3829=) c.9543T= (p.Arg3181=) | |
| 1 | g.152303399A>C | CA420926020 | FLG | c.11487T>G (p.Arg3829=) c.9543T>G (p.Arg3181=) | COSMIC |
| 1 | g.152303399A>G | CA420926021 | FLG | c.11487T>C (p.Arg3829=) c.9543T>C (p.Arg3181=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303399A>T | CA420926022 | FLG | c.11487T>A (p.Arg3829=) c.9543T>A (p.Arg3181=) | |
| 1 | g.152303400C>A | CA342057625 | FLG | c.11486G>T (p.Arg3829Leu) c.9542G>T (p.Arg3181Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303400C= | CA1142032071 | FLG | c.11486G= (p.Arg3829=) c.9542G= (p.Arg3181=) | |
| 1 | g.152303400C>G | CA342057628 | FLG | c.11486G>C (p.Arg3829Pro) c.9542G>C (p.Arg3181Pro) | gnomAD v4 |
| 1 | g.152303400C>T | CA1102886 | FLG | c.11486G>A (p.Arg3829His) c.9542G>A (p.Arg3181His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303401G>A | CA1102887 | FLG | c.11485C>T (p.Arg3829Cys) c.9541C>T (p.Arg3181Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303401G>C | CA1102888 | FLG | c.11485C>G (p.Arg3829Gly) c.9541C>G (p.Arg3181Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303401G= | CA1140145087 | FLG | c.11485C= (p.Arg3829=) c.9541C= (p.Arg3181=) | |
| 1 | g.152303401G>T | CA342057633 | FLG | c.11485C>A (p.Arg3829Ser) c.9541C>A (p.Arg3181Ser) | |
| 1 | g.152303402C>A | CA420926024 | FLG | c.11484G>T (p.Ser3828=) c.9540G>T (p.Ser3180=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303402C= | CA1143758673 | FLG | c.11484G= (p.Ser3828=) c.9540G= (p.Ser3180=) | |
| 1 | g.152303402C>G | CA420926025 | FLG | c.11484G>C (p.Ser3828=) c.9540G>C (p.Ser3180=) | |
| 1 | g.152303402C>T | CA1102889 | FLG | c.11484G>A (p.Ser3828=) c.9540G>A (p.Ser3180=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303403G>A | CA342057652 | FLG | c.11483C>T (p.Ser3828Leu) c.9539C>T (p.Ser3180Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152303403G>C | CA1102890 | FLG | c.11483C>G (p.Ser3828Trp) c.9539C>G (p.Ser3180Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303403G= | CA2479946958 | FLG | c.11483C= (p.Ser3828=) c.9539C= (p.Ser3180=) | |
| 1 | g.152303403G>T | CA342057645 | FLG | c.11483C>A (p.Ser3828Ter) c.9539C>A (p.Ser3180Ter) | gnomAD v4 |
| 1 | g.152303404A= | CA2479946959 | FLG | c.11482T= (p.Ser3828=) c.9538T= (p.Ser3180=) | |
| 1 | g.152303404A>C | CA342057655 | FLG | c.11482T>G (p.Ser3828Ala) c.9538T>G (p.Ser3180Ala) | |
| 1 | g.152303404A>G | CA342057656 | FLG | c.11482T>C (p.Ser3828Pro) c.9538T>C (p.Ser3180Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303404A>T | CA342057657 | FLG | c.11482T>A (p.Ser3828Thr) c.9538T>A (p.Ser3180Thr) | |
| 1 | g.152303405C>A | CA420926027 | FLG | c.11481G>T (p.Gly3827=) c.9537G>T (p.Gly3179=) | dbSNP |
| 1 | g.152303405C= | CA2479946960 | FLG | c.11481G= (p.Gly3827=) c.9537G= (p.Gly3179=) | |
| 1 | g.152303405C>G | CA420926028 | FLG | c.11481G>C (p.Gly3827=) c.9537G>C (p.Gly3179=) | |
| 1 | g.152303405C>T | CA420926029 | FLG | c.11481G>A (p.Gly3827=) c.9537G>A (p.Gly3179=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303406C>A | CA1102891 | FLG | c.11480G>T (p.Gly3827Val) c.9536G>T (p.Gly3179Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303406C= | CA1148305136 | FLG | c.11480G= (p.Gly3827=) c.9536G= (p.Gly3179=) | |
| 1 | g.152303406C>G | CA342057660 | FLG | c.11480G>C (p.Gly3827Ala) c.9536G>C (p.Gly3179Ala) | |
| 1 | g.152303406C>T | CA1102892 | FLG | c.11480G>A (p.Gly3827Glu) c.9536G>A (p.Gly3179Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303411_152303431dup | CA2647993395 | FLG | c.11460_11480dup (p.Gly3827_Ser3828insAspGlySerArgHisSerGly) c.9516_9536dup (p.Gly3179_Ser3180insAspGlySerArgHisSerGly) | gnomAD v4 |
| 1 | g.152303407C>A | CA1102893 | FLG | c.11479G>T (p.Gly3827Trp) c.9535G>T (p.Gly3179Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303407C= | CA1141745025 | FLG | c.11479G= (p.Gly3827=) c.9535G= (p.Gly3179=) | |
| 1 | g.152303407C>G | CA342057664 | FLG | c.11479G>C (p.Gly3827Arg) c.9535G>C (p.Gly3179Arg) | gnomAD v4 |
| 1 | g.152303407C>T | CA342057663 | FLG | c.11479G>A (p.Gly3827Arg) c.9535G>A (p.Gly3179Arg) | |
| 1 | g.152303407_152303408insCGAG | CA2647993396 | FLG | c.11478_11479insCTCG (p.Gly3827LeufsTer7) c.9534_9535insCTCG (p.Gly3179LeufsTer7) | gnomAD v4 |
| 1 | g.152303408T>A | CA420926031 | FLG | c.11478A>T (p.Ser3826=) c.9534A>T (p.Ser3178=) | |
| 1 | g.152303408T>C | CA420926032 | FLG | c.11478A>G (p.Ser3826=) c.9534A>G (p.Ser3178=) | gnomAD v4 |
| 1 | g.152303408T>G | CA420926033 | FLG | c.11478A>C (p.Ser3826=) c.9534A>C (p.Ser3178=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303408T= | CA2479946961 | FLG | c.11478A= (p.Ser3826=) c.9534A= (p.Ser3178=) | |
| 1 | g.152303409G>A | CA342057675 | FLG | c.11477C>T (p.Ser3826Leu) c.9533C>T (p.Ser3178Leu) | |
| 1 | g.152303409G>C | CA342057681 | FLG | c.11477C>G (p.Ser3826Ter) c.9533C>G (p.Ser3178Ter) | |
| 1 | g.152303409G>T | CA342057678 | FLG | c.11477C>A (p.Ser3826Ter) c.9533C>A (p.Ser3178Ter) | |
| 1 | g.152303410A= | CA1143494580 | FLG | c.11476T= (p.Ser3826=) c.9532T= (p.Ser3178=) | |
| 1 | g.152303410A>C | CA342057686 | FLG | c.11476T>G (p.Ser3826Ala) c.9532T>G (p.Ser3178Ala) | |
| 1 | g.152303410A>G | CA1102894 | FLG | c.11476T>C (p.Ser3826Pro) c.9532T>C (p.Ser3178Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303410A>T | CA342057692 | FLG | c.11476T>A (p.Ser3826Thr) c.9532T>A (p.Ser3178Thr) | |
| 1 | g.152303411G>A | CA420926038 | FLG | c.11475C>T (p.His3825=) c.9531C>T (p.His3177=) | dbSNP |
| 1 | g.152303411G>C | CA342057696 | FLG | c.11475C>G (p.His3825Gln) c.9531C>G (p.His3177Gln) | |
| 1 | g.152303411G= | CA2479946962 | FLG | c.11475C= (p.His3825=) c.9531C= (p.His3177=) | |
| 1 | g.152303411G>T | CA342057697 | FLG | c.11475C>A (p.His3825Gln) c.9531C>A (p.His3177Gln) | |
| 1 | g.152303412T>A | CA342057698 | FLG | c.11474A>T (p.His3825Leu) c.9530A>T (p.His3177Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303412T>C | CA342057700 | FLG | c.11474A>G (p.His3825Arg) c.9530A>G (p.His3177Arg) | COSMIC |
| 1 | g.152303412T>G | CA342057702 | FLG | c.11474A>C (p.His3825Pro) c.9530A>C (p.His3177Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303412T= | CA2479946963 | FLG | c.11474A= (p.His3825=) c.9530A= (p.His3177=) | |
| 1 | g.152303413G>A | CA342057711 | FLG | c.11473C>T (p.His3825Tyr) c.9529C>T (p.His3177Tyr) | |
| 1 | g.152303413G>C | CA342057716 | FLG | c.11473C>G (p.His3825Asp) c.9529C>G (p.His3177Asp) | |
| 1 | g.152303413G>T | CA342057717 | FLG | c.11473C>A (p.His3825Asn) c.9529C>A (p.His3177Asn) | COSMIC |
| 1 | g.152303414C>A | CA342057726 | FLG | c.11472G>T (p.Arg3824Ser) c.9528G>T (p.Arg3176Ser) | |
| 1 | g.152303414C= | CA2479946964 | FLG | c.11472G= (p.Arg3824=) c.9528G= (p.Arg3176=) | |
| 1 | g.152303414C>G | CA342057723 | FLG | c.11472G>C (p.Arg3824Ser) c.9528G>C (p.Arg3176Ser) | |
| 1 | g.152303414C>T | CA1102895 | FLG | c.11472G>A (p.Arg3824=) c.9528G>A (p.Arg3176=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303415C>A | CA342057732 | FLG | c.11471G>T (p.Arg3824Met) c.9527G>T (p.Arg3176Met) | |
| 1 | g.152303415C= | CA2479946965 | FLG | c.11471G= (p.Arg3824=) c.9527G= (p.Arg3176=) | |
| 1 | g.152303415C>G | CA342057735 | FLG | c.11471G>C (p.Arg3824Thr) c.9527G>C (p.Arg3176Thr) | dbSNP gnomAD v4 |
| 1 | g.152303415C>T | CA342057749 | FLG | c.11471G>A (p.Arg3824Lys) c.9527G>A (p.Arg3176Lys) | |
| 1 | g.152303416T>A | CA342057758 | FLG | c.11470A>T (p.Arg3824Trp) c.9526A>T (p.Arg3176Trp) | gnomAD v4 |
| 1 | g.152303416T>C | CA342057763 | FLG | c.11470A>G (p.Arg3824Gly) c.9526A>G (p.Arg3176Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303416T>G | CA420926044 | FLG | c.11470A>C (p.Arg3824=) c.9526A>C (p.Arg3176=) | gnomAD v4 |
| 1 | g.152303416T= | CA2479946966 | FLG | c.11470A= (p.Arg3824=) c.9526A= (p.Arg3176=) | |
| 1 | g.152303417G>A | CA420926045 | FLG | c.11469C>T (p.Ser3823=) c.9525C>T (p.Ser3175=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303417G>C | CA420926046 | FLG | c.11469C>G (p.Ser3823=) c.9525C>G (p.Ser3175=) | |
| 1 | g.152303417G= | CA2479946967 | FLG | c.11469C= (p.Ser3823=) c.9525C= (p.Ser3175=) | |
| 1 | g.152303417G>T | CA420926047 | FLG | c.11469C>A (p.Ser3823=) c.9525C>A (p.Ser3175=) | gnomAD v4 |
| 1 | g.152303418G>A | CA342057770 | FLG | c.11468C>T (p.Ser3823Phe) c.9524C>T (p.Ser3175Phe) | |
| 1 | g.152303418G>C | CA342057777 | FLG | c.11468C>G (p.Ser3823Cys) c.9524C>G (p.Ser3175Cys) | |
| 1 | g.152303418G>T | CA342057779 | FLG | c.11468C>A (p.Ser3823Tyr) c.9524C>A (p.Ser3175Tyr) | COSMIC |
| 1 | g.152303419A>C | CA342057790 | FLG | c.11467T>G (p.Ser3823Ala) c.9523T>G (p.Ser3175Ala) | |
| 1 | g.152303419A>G | CA342057796 | FLG | c.11467T>C (p.Ser3823Pro) c.9523T>C (p.Ser3175Pro) | |
| 1 | g.152303419A>T | CA342057799 | FLG | c.11467T>A (p.Ser3823Thr) c.9523T>A (p.Ser3175Thr) | gnomAD v4 |
| 1 | g.152303420G>A | CA420926051 | FLG | c.11466C>T (p.Gly3822=) c.9522C>T (p.Gly3174=) | gnomAD v4 |
| 1 | g.152303420G>C | CA30597304 | FLG | c.11466C>G (p.Gly3822=) c.9522C>G (p.Gly3174=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303420G= | CA1141618200 | FLG | c.11466C= (p.Gly3822=) c.9522C= (p.Gly3174=) | |
| 1 | g.152303420G>T | CA420926052 | FLG | c.11466C>A (p.Gly3822=) c.9522C>A (p.Gly3174=) | |
| 1 | g.152303421C>A | CA342057803 | FLG | c.11465G>T (p.Gly3822Val) c.9521G>T (p.Gly3174Val) | |
| 1 | g.152303421C= | CA1142131275 | FLG | c.11465G= (p.Gly3822=) c.9521G= (p.Gly3174=) | |
| 1 | g.152303421C>G | CA1102896 | FLG | c.11465G>C (p.Gly3822Ala) c.9521G>C (p.Gly3174Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303421C>T | CA342057801 | FLG | c.11465G>A (p.Gly3822Asp) c.9521G>A (p.Gly3174Asp) | dbSNP |
| 1 | g.152303422C>A | CA1102897 | FLG | c.11464G>T (p.Gly3822Cys) c.9520G>T (p.Gly3174Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303422C= | CA1143360263 | FLG | c.11464G= (p.Gly3822=) c.9520G= (p.Gly3174=) | |
| 1 | g.152303422C>G | CA342057815 | FLG | c.11464G>C (p.Gly3822Arg) c.9520G>C (p.Gly3174Arg) | |
| 1 | g.152303422C>T | CA1102898 | FLG | c.11464G>A (p.Gly3822Ser) c.9520G>A (p.Gly3174Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303422_152303423insAGTGTTAGCCAG | CA2479946968 | FLG | c.11463_11464insCTGGCTAACACT (p.Asp3821_Gly3822insLeuAlaAsnThr) c.9519_9520insCTGGCTAACACT (p.Asp3173_Gly3174insLeuAlaAsnThr) | dbSNP |
| 1 | g.152303423G>A | CA1102899 | FLG | c.11463C>T (p.Asp3821=) c.9519C>T (p.Asp3173=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303423G>C | CA342057853 | FLG | c.11463C>G (p.Asp3821Glu) c.9519C>G (p.Asp3173Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303423G= | CA1142314088 | FLG | c.11463C= (p.Asp3821=) c.9519C= (p.Asp3173=) | |
| 1 | g.152303423G>T | CA1102900 | FLG | c.11463C>A (p.Asp3821Glu) c.9519C>A (p.Asp3173Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303424T>A | CA342057883 | FLG | c.11462A>T (p.Asp3821Val) c.9518A>T (p.Asp3173Val) | |
| 1 | g.152303424T>C | CA342057881 | FLG | c.11462A>G (p.Asp3821Gly) c.9518A>G (p.Asp3173Gly) | gnomAD v4 |
| 1 | g.152303424T>G | CA342057873 | FLG | c.11462A>C (p.Asp3821Ala) c.9518A>C (p.Asp3173Ala) | |
| 1 | g.152303425C>A | CA342057886 | FLG | c.11461G>T (p.Asp3821Tyr) c.9517G>T (p.Asp3173Tyr) | |
| 1 | g.152303425C= | CA2479946969 | FLG | c.11461G= (p.Asp3821=) c.9517G= (p.Asp3173=) | |
| 1 | g.152303425C>G | CA342057887 | FLG | c.11461G>C (p.Asp3821His) c.9517G>C (p.Asp3173His) | |
| 1 | g.152303425C>T | CA342057889 | FLG | c.11461G>A (p.Asp3821Asn) c.9517G>A (p.Asp3173Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152303426T>A | CA420926057 | FLG | c.11460A>T (p.Gly3820=) c.9516A>T (p.Gly3172=) | |
| 1 | g.152303426T>C | CA420926058 | FLG | c.11460A>G (p.Gly3820=) c.9516A>G (p.Gly3172=) | |
| 1 | g.152303426T>G | CA420926059 | FLG | c.11460A>C (p.Gly3820=) c.9516A>C (p.Gly3172=) | |
| 1 | g.152303427C>A | CA342057898 | FLG | c.11459G>T (p.Gly3820Val) c.9515G>T (p.Gly3172Val) | |
| 1 | g.152303427C= | CA2479946970 | FLG | c.11459G= (p.Gly3820=) c.9515G= (p.Gly3172=) | |
| 1 | g.152303427C>G | CA342057902 | FLG | c.11459G>C (p.Gly3820Ala) c.9515G>C (p.Gly3172Ala) | |
| 1 | g.152303427C>T | CA342057904 | FLG | c.11459G>A (p.Gly3820Glu) c.9515G>A (p.Gly3172Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152303428C>A | CA342057909 | FLG | c.11458G>T (p.Gly3820Ter) c.9514G>T (p.Gly3172Ter) | |
| 1 | g.152303428C>G | CA342057912 | FLG | c.11458G>C (p.Gly3820Arg) c.9514G>C (p.Gly3172Arg) | gnomAD v3 gnomAD v4 |
| 1 | g.152303428C>T | CA342057910 | FLG | c.11458G>A (p.Gly3820Arg) c.9514G>A (p.Gly3172Arg) | |
| 1 | g.152303429T>A | CA420926063 | FLG | c.11457A>T (p.Ser3819=) c.9513A>T (p.Ser3171=) | |
| 1 | g.152303429T>C | CA420926064 | FLG | c.11457A>G (p.Ser3819=) c.9513A>G (p.Ser3171=) | |
| 1 | g.152303429T>G | CA420926065 | FLG | c.11457A>C (p.Ser3819=) c.9513A>C (p.Ser3171=) | |
| 1 | g.152303430G>A | CA342057918 | FLG | c.11456C>T (p.Ser3819Leu) c.9512C>T (p.Ser3171Leu) | |
| 1 | g.152303430G>C | CA1102901 | FLG | c.11456C>G (p.Ser3819Ter) c.9512C>G (p.Ser3171Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303430G= | CA2479946971 | FLG | c.11456C= (p.Ser3819=) c.9512C= (p.Ser3171=) | |
| 1 | g.152303430G>T | CA342057926 | FLG | c.11456C>A (p.Ser3819Ter) c.9512C>A (p.Ser3171Ter) | |
| 1 | g.152303431A= | CA2479946972 | FLG | c.11455T= (p.Ser3819=) c.9511T= (p.Ser3171=) | |
| 1 | g.152303431A>C | CA342057932 | FLG | c.11455T>G (p.Ser3819Ala) c.9511T>G (p.Ser3171Ala) | |
| 1 | g.152303431A>G | CA342057949 | FLG | c.11455T>C (p.Ser3819Pro) c.9511T>C (p.Ser3171Pro) | dbSNP gnomAD v4 |
| 1 | g.152303431A>T | CA342057955 | FLG | c.11455T>A (p.Ser3819Thr) c.9511T>A (p.Ser3171Thr) | |
| 1 | g.152303432C>A | CA1102902 | FLG | c.11454G>T (p.Gln3818His) c.9510G>T (p.Gln3170His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152303432C= | CA2479946973 | FLG | c.11454G= (p.Gln3818=) c.9510G= (p.Gln3170=) | |
| 1 | g.152303432C>G | CA342057961 | FLG | c.11454G>C (p.Gln3818His) c.9510G>C (p.Gln3170His) | gnomAD v4 |
| 1 | g.152303432C>T | CA1102903 | FLG | c.11454G>A (p.Gln3818=) c.9510G>A (p.Gln3170=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152303433T>A | CA342057967 | FLG | c.11453A>T (p.Gln3818Leu) c.9509A>T (p.Gln3170Leu) | dbSNP gnomAD v4 |
| 1 | g.152303433T>C | CA342057969 | FLG | c.11453A>G (p.Gln3818Arg) c.9509A>G (p.Gln3170Arg) | |
| 1 | g.152303433T>G | CA342057973 | FLG | c.11453A>C (p.Gln3818Pro) c.9509A>C (p.Gln3170Pro) | |
| 1 | g.152303433T= | CA2479946974 | FLG | c.11453A= (p.Gln3818=) c.9509A= (p.Gln3170=) | |
| 1 | g.152303434G>A | CA1102904 | FLG | c.11452C>T (p.Gln3818Ter) c.9508C>T (p.Gln3170Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303434G>C | CA342057983 | FLG | c.11452C>G (p.Gln3818Glu) c.9508C>G (p.Gln3170Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152303434G= | CA1142251314 | FLG | c.11452C= (p.Gln3818=) c.9508C= (p.Gln3170=) | |
| 1 | g.152303434G>T | CA1102905 | FLG | c.11452C>A (p.Gln3818Lys) c.9508C>A (p.Gln3170Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |