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.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) | 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 |
| 1 | g.152304694A>C | CA342072651 | FLG | c.10192T>G (p.Ser3398Ala) c.9109-861T>G (n.9109-861T>G) | |
| 1 | g.152304694A>G | CA342072653 | FLG | c.10192T>C (p.Ser3398Pro) c.9109-861T>C (n.9109-861T>C) | |
| 1 | g.152304694A>T | CA342072652 | FLG | c.10192T>A (p.Ser3398Thr) c.9109-861T>A (n.9109-861T>A) | |
| 1 | g.152304694_152304695delinsAC | CA2479947582 | FLG | c.10191_10192delinsGT (p.Glu3397=) c.9109-862_9109-861delinsGT (n.9109-862_9109-861delinsGT) | |
| 1 | g.152304695del | CA16616972 | FLG | c.10191del (p.Glu3397AspfsTer?) c.9109-862del (n.9109-862del) | ClinVar dbSNP |
| 1 | g.152304695C>A | CA342072655 | FLG | c.10191G>T (p.Glu3397Asp) c.9109-862G>T (n.9109-862G>T) | |
| 1 | g.152304695C= | CA1147188142 | FLG | c.10191G= (p.Glu3397=) c.9109-862G= (n.9109-862G=) | |
| 1 | g.152304695C>G | CA1103487 | FLG | c.10191G>C (p.Glu3397Asp) c.9109-862G>C (n.9109-862G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304695C>T | CA1103488 | FLG | c.10191G>A (p.Glu3397=) c.9109-862G>A (n.9109-862G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304696T>A | CA342072657 | FLG | c.10190A>T (p.Glu3397Val) c.9109-863A>T (n.9109-863A>T) | |
| 1 | g.152304696T>C | CA342072658 | FLG | c.10190A>G (p.Glu3397Gly) c.9109-863A>G (n.9109-863A>G) | |
| 1 | g.152304696T>G | CA342072660 | FLG | c.10190A>C (p.Glu3397Ala) c.9109-863A>C (n.9109-863A>C) | |
| 1 | g.152304697C>A | CA342072661 | FLG | c.10189G>T (p.Glu3397Ter) c.9109-864G>T (n.9109-864G>T) | gnomAD v4 |
| 1 | g.152304697C= | CA2479947583 | FLG | c.10189G= (p.Glu3397=) c.9109-864G= (n.9109-864G=) | |
| 1 | g.152304697C>G | CA342072663 | FLG | c.10189G>C (p.Glu3397Gln) c.9109-864G>C (n.9109-864G>C) | dbSNP |
| 1 | g.152304697C>T | CA342072664 | FLG | c.10189G>A (p.Glu3397Lys) c.9109-864G>A (n.9109-864G>A) | dbSNP gnomAD v4 |
| 1 | g.152304698A>C | CA420926728 | FLG | c.10188T>G (p.Ser3396=) c.9109-865T>G (n.9109-865T>G) | COSMIC |
| 1 | g.152304698A>G | CA420926731 | FLG | c.10188T>C (p.Ser3396=) c.9109-865T>C (n.9109-865T>C) | |
| 1 | g.152304698A>T | CA420926730 | FLG | c.10188T>A (p.Ser3396=) c.9109-865T>A (n.9109-865T>A) | COSMIC |
| 1 | g.152304699G>A | CA342072665 | FLG | c.10187C>T (p.Ser3396Phe) c.9109-866C>T (n.9109-866C>T) | gnomAD v4 |
| 1 | g.152304699G>C | CA342072666 | FLG | c.10187C>G (p.Ser3396Cys) c.9109-866C>G (n.9109-866C>G) | |
| 1 | g.152304699G>T | CA342072668 | FLG | c.10187C>A (p.Ser3396Tyr) c.9109-866C>A (n.9109-866C>A) | |
| 1 | g.152304700A= | CA1144316956 | FLG | c.10186T= (p.Ser3396=) c.9109-867T= (n.9109-867T=) | |
| 1 | g.152304700A>C | CA342072672 | FLG | c.10186T>G (p.Ser3396Ala) c.9109-867T>G (n.9109-867T>G) | |
| 1 | g.152304700A>G | CA1103489 | FLG | c.10186T>C (p.Ser3396Pro) c.9109-867T>C (n.9109-867T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304700A>T | CA342072671 | FLG | c.10186T>A (p.Ser3396Thr) c.9109-867T>A (n.9109-867T>A) | |
| 1 | g.152304701C>A | CA342072674 | FLG | c.10185G>T (p.Gln3395His) c.9109-868G>T (n.9109-868G>T) | ClinVar gnomAD v4 |
| 1 | g.152304701C= | CA2479947584 | FLG | c.10185G= (p.Gln3395=) c.9109-868G= (n.9109-868G=) | |
| 1 | g.152304701C>G | CA342072676 | FLG | c.10185G>C (p.Gln3395His) c.9109-868G>C (n.9109-868G>C) | dbSNP |
| 1 | g.152304701C>T | CA420926735 | FLG | c.10185G>A (p.Gln3395=) c.9109-868G>A (n.9109-868G>A) | |
| 1 | g.152304702T>A | CA342072677 | FLG | c.10184A>T (p.Gln3395Leu) c.9109-869A>T (n.9109-869A>T) | |
| 1 | g.152304702T>C | CA342072678 | FLG | c.10184A>G (p.Gln3395Arg) c.9109-869A>G (n.9109-869A>G) | |
| 1 | g.152304702T>G | CA342072679 | FLG | c.10184A>C (p.Gln3395Pro) c.9109-869A>C (n.9109-869A>C) | gnomAD v4 |
| 1 | g.152304703G>A | CA342072681 | FLG | c.10183C>T (p.Gln3395Ter) c.9109-870C>T (n.9109-870C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304703G>C | CA342072683 | FLG | c.10183C>G (p.Gln3395Glu) c.9109-870C>G (n.9109-870C>G) | ClinVar dbSNP |
| 1 | g.152304703G= | CA2479947585 | FLG | c.10183C= (p.Gln3395=) c.9109-870C= (n.9109-870C=) | |
| 1 | g.152304703G>T | CA342072687 | FLG | c.10183C>A (p.Gln3395Lys) c.9109-870C>A (n.9109-870C>A) | |
| 1 | g.152304703_152304704insC | CA1103490 | FLG | c.10182_10183insG (p.Gln3395AlafsTer3) c.9109-871_9109-870insG (n.9109-871_9109-870insG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304704T>A | CA1103491 | FLG | c.10182A>T (p.Glu3394Asp) c.9109-871A>T (n.9109-871A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304704T>C | CA420926744 | FLG | c.10182A>G (p.Glu3394=) c.9109-871A>G (n.9109-871A>G) | COSMIC |
| 1 | g.152304704T>G | CA1103492 | FLG | c.10182A>C (p.Glu3394Asp) c.9109-871A>C (n.9109-871A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304704T= | CA2479947586 | FLG | c.10182A= (p.Glu3394=) c.9109-871A= (n.9109-871A=) | |
| 1 | g.152304704_152304705insCAGAC | CA1103493 | FLG | c.10181_10182insGTCTG (p.Gln3395SerfsTer?) c.9109-872_9109-871insGTCTG (n.9109-872_9109-871insGTCTG) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304705T>A | CA342072698 | FLG | c.10181A>T (p.Glu3394Val) c.9109-872A>T (n.9109-872A>T) | |
| 1 | g.152304705T>C | CA342072701 | FLG | c.10181A>G (p.Glu3394Gly) c.9109-872A>G (n.9109-872A>G) | |
| 1 | g.152304705T>G | CA342072695 | FLG | c.10181A>C (p.Glu3394Ala) c.9109-872A>C (n.9109-872A>C) | |
| 1 | g.152304705_152304706delinsTC | CA2479947587 | FLG | c.10180_10181delinsGA (p.Glu3394=) c.9109-873_9109-872delinsGA (n.9109-873_9109-872delinsGA) | |
| 1 | g.152304706del | CA526662126 | FLG | c.10180del (p.Glu3394AsnfsTer?) c.9109-873del (n.9109-873del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304706C>A | CA342072704 | FLG | c.10180G>T (p.Glu3394Ter) c.9109-873G>T (n.9109-873G>T) | gnomAD v4 |
| 1 | g.152304706C>G | CA342072707 | FLG | c.10180G>C (p.Glu3394Gln) c.9109-873G>C (n.9109-873G>C) | |
| 1 | g.152304706C>T | CA342072709 | FLG | c.10180G>A (p.Glu3394Lys) c.9109-873G>A (n.9109-873G>A) | gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.152304706_152304708delinsCAT | CA2479947588 | FLG | c.10178_10180delinsATG (p.His3393=) c.9109-875_9109-873delinsATG (n.9109-875_9109-873delinsATG) | |
| 1 | g.152304707A= | CA2479947589 | FLG | c.10179T= (p.His3393=) c.9109-874T= (n.9109-874T=) | |
| 1 | g.152304707A>C | CA342072711 | FLG | c.10179T>G (p.His3393Gln) c.9109-874T>G (n.9109-874T>G) | |
| 1 | g.152304707A>G | CA420926747 | FLG | c.10179T>C (p.His3393=) c.9109-874T>C (n.9109-874T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304707A>T | CA342072714 | FLG | c.10179T>A (p.His3393Gln) c.9109-874T>A (n.9109-874T>A) | |
| 1 | g.152304707_152304708del | CA1103494 | FLG | c.10178_10179del (p.His3393ArgfsTer4) c.9109-875_9109-874del (n.9109-875_9109-874del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304707_152304708delinsAT | CA1149131781 | FLG | c.10178_10179delinsAT (p.His3393=) c.9109-875_9109-874delinsAT (n.9109-875_9109-874delinsAT) | |
| 1 | g.152304708T>A | CA1103496 | FLG | c.10178A>T (p.His3393Leu) c.9109-875A>T (n.9109-875A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304708T>C | CA1103495 | FLG | c.10178A>G (p.His3393Arg) c.9109-875A>G (n.9109-875A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304708T>G | CA342072722 | FLG | c.10178A>C (p.His3393Pro) c.9109-875A>C (n.9109-875A>C) | |
| 1 | g.152304708T= | CA1142103215 | FLG | c.10178A= (p.His3393=) c.9109-875A= (n.9109-875A=) | |
| 1 | g.152304709G>A | CA342072724 | FLG | c.10177C>T (p.His3393Tyr) c.9109-876C>T (n.9109-876C>T) | gnomAD v4 |
| 1 | g.152304709G>C | CA342072727 | FLG | c.10177C>G (p.His3393Asp) c.9109-876C>G (n.9109-876C>G) | dbSNP |
| 1 | g.152304709G= | CA2479947590 | FLG | c.10177C= (p.His3393=) c.9109-876C= (n.9109-876C=) | |
| 1 | g.152304709G>T | CA342072729 | FLG | c.10177C>A (p.His3393Asn) c.9109-876C>A (n.9109-876C>A) | |
| 1 | g.152304710A= | CA2479947591 | FLG | c.10176T= (p.Thr3392=) c.9109-877T= (n.9109-877T=) | |
| 1 | g.152304710A>C | CA420926750 | FLG | c.10176T>G (p.Thr3392=) c.9109-877T>G (n.9109-877T>G) | |
| 1 | g.152304710A>G | CA420926752 | FLG | c.10176T>C (p.Thr3392=) c.9109-877T>C (n.9109-877T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304710A>T | CA420926754 | FLG | c.10176T>A (p.Thr3392=) c.9109-877T>A (n.9109-877T>A) | |
| 1 | g.152304711G>A | CA1103497 | FLG | c.10175C>T (p.Thr3392Ile) c.9109-878C>T (n.9109-878C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304711G>C | CA342072733 | FLG | c.10175C>G (p.Thr3392Ser) c.9109-878C>G (n.9109-878C>G) | gnomAD v4 |
| 1 | g.152304711G= | CA1142334704 | FLG | c.10175C= (p.Thr3392=) c.9109-878C= (n.9109-878C=) | |
| 1 | g.152304711G>T | CA1103498 | FLG | c.10175C>A (p.Thr3392Asn) c.9109-878C>A (n.9109-878C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304712T>A | CA342072738 | FLG | c.10174A>T (p.Thr3392Ser) c.9109-879A>T (n.9109-879A>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304712T>C | CA342072741 | FLG | c.10174A>G (p.Thr3392Ala) c.9109-879A>G (n.9109-879A>G) | gnomAD v4 |
| 1 | g.152304712T>G | CA342072742 | FLG | c.10174A>C (p.Thr3392Pro) c.9109-879A>C (n.9109-879A>C) | |
| 1 | g.152304712T= | CA2479947592 | FLG | c.10174A= (p.Thr3392=) c.9109-879A= (n.9109-879A=) | |
| 1 | g.152304713G>A | CA420926758 | FLG | c.10173C>T (p.Ser3391=) c.9109-880C>T (n.9109-880C>T) | |
| 1 | g.152304713G>C | CA342072746 | FLG | c.10173C>G (p.Ser3391Arg) c.9109-880C>G (n.9109-880C>G) | |
| 1 | g.152304713G>T | CA342072747 | FLG | c.10173C>A (p.Ser3391Arg) c.9109-880C>A (n.9109-880C>A) | |
| 1 | g.152304714C>A | CA342072750 | FLG | c.10172G>T (p.Ser3391Ile) c.9109-881G>T (n.9109-881G>T) | |
| 1 | g.152304714C>G | CA342072751 | FLG | c.10172G>C (p.Ser3391Thr) c.9109-881G>C (n.9109-881G>C) | |
| 1 | g.152304714C>T | CA342072753 | FLG | c.10172G>A (p.Ser3391Asn) c.9109-881G>A (n.9109-881G>A) | gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304715T>A | CA342072754 | FLG | c.10171A>T (p.Ser3391Cys) c.9109-882A>T (n.9109-882A>T) | |
| 1 | g.152304715T>C | CA342072755 | FLG | c.10171A>G (p.Ser3391Gly) c.9109-882A>G (n.9109-882A>G) | |
| 1 | g.152304715T>G | CA342072756 | FLG | c.10171A>C (p.Ser3391Arg) c.9109-882A>C (n.9109-882A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.152304715T= | CA2479947593 | FLG | c.10171A= (p.Ser3391=) c.9109-882A= (n.9109-882A=) | |
| 1 | g.152304716C>A | CA420926762 | FLG | c.10170G>T (p.Val3390=) c.9109-883G>T (n.9109-883G>T) | |
| 1 | g.152304716C= | CA2479947594 | FLG | c.10170G= (p.Val3390=) c.9109-883G= (n.9109-883G=) | |
| 1 | g.152304716C>G | CA420926763 | FLG | c.10170G>C (p.Val3390=) c.9109-883G>C (n.9109-883G>C) | |
| 1 | g.152304716C>T | CA1103499 | FLG | c.10170G>A (p.Val3390=) c.9109-883G>A (n.9109-883G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304717A>C | CA342072767 | FLG | c.10169T>G (p.Val3390Gly) c.9109-884T>G (n.9109-884T>G) | |
| 1 | g.152304717A>G | CA342072766 | FLG | c.10169T>C (p.Val3390Ala) c.9109-884T>C (n.9109-884T>C) | |
| 1 | g.152304717A>T | CA342072765 | FLG | c.10169T>A (p.Val3390Glu) c.9109-884T>A (n.9109-884T>A) | |
| 1 | g.152304718C>A | CA342072769 | FLG | c.10168G>T (p.Val3390Leu) c.9109-885G>T (n.9109-885G>T) | |
| 1 | g.152304718C= | CA2479947595 | FLG | c.10168G= (p.Val3390=) c.9109-885G= (n.9109-885G=) | |
| 1 | g.152304718C>G | CA342072772 | FLG | c.10168G>C (p.Val3390Leu) c.9109-885G>C (n.9109-885G>C) | gnomAD v4 |
| 1 | g.152304718C>T | CA1103500 | FLG | c.10168G>A (p.Val3390Met) c.9109-885G>A (n.9109-885G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304719C>A | CA1103501 | FLG | c.10167G>T (p.Gln3389His) c.9109-886G>T (n.9109-886G>T) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304719C= | CA2479947596 | FLG | c.10167G= (p.Gln3389=) c.9109-886G= (n.9109-886G=) | |
| 1 | g.152304719C>G | CA342072776 | FLG | c.10167G>C (p.Gln3389His) c.9109-886G>C (n.9109-886G>C) | dbSNP |
| 1 | g.152304719C>T | CA420926768 | FLG | c.10167G>A (p.Gln3389=) c.9109-886G>A (n.9109-886G>A) | |
| 1 | g.152304720T>A | CA342072778 | FLG | c.10166A>T (p.Gln3389Leu) c.9109-887A>T (n.9109-887A>T) | |
| 1 | g.152304720T>C | CA342072780 | FLG | c.10166A>G (p.Gln3389Arg) c.9109-887A>G (n.9109-887A>G) | |
| 1 | g.152304720T>G | CA342072782 | FLG | c.10166A>C (p.Gln3389Pro) c.9109-887A>C (n.9109-887A>C) | |
| 1 | g.152304721G>A | CA342072789 | FLG | c.10165C>T (p.Gln3389Ter) c.9109-888C>T (n.9109-888C>T) | gnomAD v4 |
| 1 | g.152304721G>C | CA30602136 | FLG | c.10165C>G (p.Gln3389Glu) c.9109-888C>G (n.9109-888C>G) | dbSNP gnomAD v4 |
| 1 | g.152304721G= | CA2479947597 | FLG | c.10165C= (p.Gln3389=) c.9109-888C= (n.9109-888C=) | |
| 1 | g.152304721G>T | CA342072785 | FLG | c.10165C>A (p.Gln3389Lys) c.9109-888C>A (n.9109-888C>A) | gnomAD v4 |
| 1 | g.152304722G>A | CA1103502 | FLG | c.10164C>T (p.Tyr3388=) c.9109-889C>T (n.9109-889C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304722G>C | CA342072791 | FLG | c.10164C>G (p.Tyr3388Ter) c.9109-889C>G (n.9109-889C>G) | dbSNP |
| 1 | g.152304722G= | CA2479947598 | FLG | c.10164C= (p.Tyr3388=) c.9109-889C= (n.9109-889C=) | |
| 1 | g.152304722G>T | CA342072792 | FLG | c.10164C>A (p.Tyr3388Ter) c.9109-889C>A (n.9109-889C>A) | |
| 1 | g.152304723T>A | CA342072795 | FLG | c.10163A>T (p.Tyr3388Phe) c.9109-890A>T (n.9109-890A>T) | |
| 1 | g.152304723T>C | CA1103503 | FLG | c.10163A>G (p.Tyr3388Cys) c.9109-890A>G (n.9109-890A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304723T>G | CA342072798 | FLG | c.10163A>C (p.Tyr3388Ser) c.9109-890A>C (n.9109-890A>C) | gnomAD v4 |
| 1 | g.152304723T= | CA2479947599 | FLG | c.10163A= (p.Tyr3388=) c.9109-890A= (n.9109-890A=) | |
| 1 | g.152304724A>C | CA342072803 | FLG | c.10162T>G (p.Tyr3388Asp) c.9109-891T>G (n.9109-891T>G) | |
| 1 | g.152304724A>G | CA342072801 | FLG | c.10162T>C (p.Tyr3388His) c.9109-891T>C (n.9109-891T>C) | |
| 1 | g.152304724A>T | CA342072802 | FLG | c.10162T>A (p.Tyr3388Asn) c.9109-891T>A (n.9109-891T>A) | |
| 1 | g.152304725G>A | CA420926772 | FLG | c.10161C>T (p.Leu3387=) c.9109-892C>T (n.9109-892C>T) | dbSNP |
| 1 | g.152304725G>C | CA420926774 | FLG | c.10161C>G (p.Leu3387=) c.9109-892C>G (n.9109-892C>G) | dbSNP |
| 1 | g.152304725G= | CA2479947600 | FLG | c.10161C= (p.Leu3387=) c.9109-892C= (n.9109-892C=) | |
| 1 | g.152304725G>T | CA420926776 | FLG | c.10161C>A (p.Leu3387=) c.9109-892C>A (n.9109-892C>A) | |
| 1 | g.152304726A>C | CA342072805 | FLG | c.10160T>G (p.Leu3387Arg) c.9109-893T>G (n.9109-893T>G) | |
| 1 | g.152304726A>G | CA342072807 | FLG | c.10160T>C (p.Leu3387Pro) c.9109-893T>C (n.9109-893T>C) | |
| 1 | g.152304726A>T | CA342072808 | FLG | c.10160T>A (p.Leu3387His) c.9109-893T>A (n.9109-893T>A) | |
| 1 | g.152304727G>A | CA1103505 | FLG | c.10159C>T (p.Leu3387Phe) c.9109-894C>T (n.9109-894C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304727G>C | CA342072812 | FLG | c.10159C>G (p.Leu3387Val) c.9109-894C>G (n.9109-894C>G) | |
| 1 | g.152304727G= | CA1147334147 | FLG | c.10159C= (p.Leu3387=) c.9109-894C= (n.9109-894C=) | |
| 1 | g.152304727G>T | CA1103504 | FLG | c.10159C>A (p.Leu3387Ile) c.9109-894C>A (n.9109-894C>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304728G>A | CA1103506 | FLG | c.10158C>T (p.Phe3386=) c.9109-895C>T (n.9109-895C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304728G>C | CA342072814 | FLG | c.10158C>G (p.Phe3386Leu) c.9109-895C>G (n.9109-895C>G) | |
| 1 | g.152304728G= | CA2479947601 | FLG | c.10158C= (p.Phe3386=) c.9109-895C= (n.9109-895C=) | |
| 1 | g.152304728G>T | CA342072815 | FLG | c.10158C>A (p.Phe3386Leu) c.9109-895C>A (n.9109-895C>A) | |
| 1 | g.152304729A= | CA2479947602 | FLG | c.10157T= (p.Phe3386=) c.9109-896T= (n.9109-896T=) | |
| 1 | g.152304729A>C | CA342072816 | FLG | c.10157T>G (p.Phe3386Cys) c.9109-896T>G (n.9109-896T>G) | |
| 1 | g.152304729A>G | CA342072818 | FLG | c.10157T>C (p.Phe3386Ser) c.9109-896T>C (n.9109-896T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304729A>T | CA342072820 | FLG | c.10157T>A (p.Phe3386Tyr) c.9109-896T>A (n.9109-896T>A) | |
| 1 | g.152304730A= | CA2479947603 | FLG | c.10156T= (p.Phe3386=) c.9109-897T= (n.9109-897T=) | |
| 1 | g.152304730A>C | CA342072823 | FLG | c.10156T>G (p.Phe3386Val) c.9109-897T>G (n.9109-897T>G) | gnomAD v4 |
| 1 | g.152304730A>G | CA30602155 | FLG | c.10156T>C (p.Phe3386Leu) c.9109-897T>C (n.9109-897T>C) | dbSNP |
| 1 | g.152304730A>T | CA342072826 | FLG | c.10156T>A (p.Phe3386Ile) c.9109-897T>A (n.9109-897T>A) | |
| 1 | g.152304730_152304731insGGC | CA2479947604 | FLG | c.10155_10156insGCC (p.Ser3385_Phe3386insAla) c.9109-898_9109-897insGCC (n.9109-898_9109-897insGCC) | dbSNP |
| 1 | g.152304731A>C | CA420926784 | FLG | c.10155T>G (p.Ser3385=) c.9109-898T>G (n.9109-898T>G) | |
| 1 | g.152304731A>G | CA420926786 | FLG | c.10155T>C (p.Ser3385=) c.9109-898T>C (n.9109-898T>C) | |
| 1 | g.152304731A>T | CA420926788 | FLG | c.10155T>A (p.Ser3385=) c.9109-898T>A (n.9109-898T>A) | gnomAD v4 |
| 1 | g.152304732G>A | CA342072837 | FLG | c.10154C>T (p.Ser3385Phe) c.9109-899C>T (n.9109-899C>T) | gnomAD v4 |
| 1 | g.152304732G>C | CA342072838 | FLG | c.10154C>G (p.Ser3385Cys) c.9109-899C>G (n.9109-899C>G) | dbSNP |
| 1 | g.152304732G= | CA2479947605 | FLG | c.10154C= (p.Ser3385=) c.9109-899C= (n.9109-899C=) | |
| 1 | g.152304732G>T | CA342072840 | FLG | c.10154C>A (p.Ser3385Tyr) c.9109-899C>A (n.9109-899C>A) | |
| 1 | g.152304733A>C | CA342072842 | FLG | c.10153T>G (p.Ser3385Ala) c.9109-900T>G (n.9109-900T>G) | |
| 1 | g.152304733A>G | CA342072843 | FLG | c.10153T>C (p.Ser3385Pro) c.9109-900T>C (n.9109-900T>C) | |
| 1 | g.152304733A>T | CA342072845 | FLG | c.10153T>A (p.Ser3385Thr) c.9109-900T>A (n.9109-900T>A) | |
| 1 | g.152304734C>A | CA1103508 | FLG | c.10152G>T (p.Gly3384=) c.9109-901G>T (n.9109-901G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304734C= | CA1141106731 | FLG | c.10152G= (p.Gly3384=) c.9109-901G= (n.9109-901G=) | |
| 1 | g.152304734C>G | CA420926791 | FLG | c.10152G>C (p.Gly3384=) c.9109-901G>C (n.9109-901G>C) | |
| 1 | g.152304734C>T | CA1103507 | FLG | c.10152G>A (p.Gly3384=) c.9109-901G>A (n.9109-901G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304735C>A | CA342072848 | FLG | c.10151G>T (p.Gly3384Val) c.9109-902G>T (n.9109-902G>T) | |
| 1 | g.152304735C= | CA2479947606 | FLG | c.10151G= (p.Gly3384=) c.9109-902G= (n.9109-902G=) | |
| 1 | g.152304735C>G | CA1103510 | FLG | c.10151G>C (p.Gly3384Ala) c.9109-902G>C (n.9109-902G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304735C>T | CA1103509 | FLG | c.10151G>A (p.Gly3384Glu) c.9109-902G>A (n.9109-902G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304736C>A | CA342072855 | FLG | c.10150G>T (p.Gly3384Trp) c.9109-903G>T (n.9109-903G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304736C= | CA2479947607 | FLG | c.10150G= (p.Gly3384=) c.9109-903G= (n.9109-903G=) | |
| 1 | g.152304736C>G | CA342072853 | FLG | c.10150G>C (p.Gly3384Arg) c.9109-903G>C (n.9109-903G>C) | gnomAD v4 COSMIC |
| 1 | g.152304736C>T | CA342072851 | FLG | c.10150G>A (p.Gly3384Arg) c.9109-903G>A (n.9109-903G>A) | |
| 1 | g.152304737T>A | CA420926795 | FLG | c.10149A>T (p.Ser3383=) c.9109-904A>T (n.9109-904A>T) | dbSNP gnomAD v4 |
| 1 | g.152304737T>C | CA420926796 | FLG | c.10149A>G (p.Ser3383=) c.9109-904A>G (n.9109-904A>G) | gnomAD v4 COSMIC |
| 1 | g.152304737T>G | CA420926797 | FLG | c.10149A>C (p.Ser3383=) c.9109-904A>C (n.9109-904A>C) | |
| 1 | g.152304737T= | CA2479947608 | FLG | c.10149A= (p.Ser3383=) c.9109-904A= (n.9109-904A=) | |
| 1 | g.152304738G>A | CA1103512 | FLG | c.10148C>T (p.Ser3383Leu) c.9109-905C>T (n.9109-905C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304738G>C | CA1103511 | FLG | c.10148C>G (p.Ser3383Ter) c.9109-905C>G (n.9109-905C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304738G= | CA2479947609 | FLG | c.10148C= (p.Ser3383=) c.9109-905C= (n.9109-905C=) | |
| 1 | g.152304738G>T | CA342072857 | FLG | c.10148C>A (p.Ser3383Ter) c.9109-905C>A (n.9109-905C>A) | |
| 1 | g.152304739A>C | CA342072861 | FLG | c.10147T>G (p.Ser3383Ala) c.9109-906T>G (n.9109-906T>G) | |
| 1 | g.152304739A>G | CA342072862 | FLG | c.10147T>C (p.Ser3383Pro) c.9109-906T>C (n.9109-906T>C) | |
| 1 | g.152304739A>T | CA342072865 | FLG | c.10147T>A (p.Ser3383Thr) c.9109-906T>A (n.9109-906T>A) | |
| 1 | g.152304740A= | CA2479947610 | FLG | c.10146T= (p.Arg3382=) c.9109-907T= (n.9109-907T=) | |
| 1 | g.152304740A>C | CA420926800 | FLG | c.10146T>G (p.Arg3382=) c.9109-907T>G (n.9109-907T>G) | |
| 1 | g.152304740A>G | CA420926801 | FLG | c.10146T>C (p.Arg3382=) c.9109-907T>C (n.9109-907T>C) | dbSNP gnomAD v4 |
| 1 | g.152304740A>T | CA420926802 | FLG | c.10146T>A (p.Arg3382=) c.9109-907T>A (n.9109-907T>A) | |
| 1 | g.152304741C>A | CA342072868 | FLG | c.10145G>T (p.Arg3382Leu) c.9109-908G>T (n.9109-908G>T) | gnomAD v4 |
| 1 | g.152304741C= | CA1145091696 | FLG | c.10145G= (p.Arg3382=) c.9109-908G= (n.9109-908G=) | |
| 1 | g.152304741C>G | CA342072871 | FLG | c.10145G>C (p.Arg3382Pro) c.9109-908G>C (n.9109-908G>C) | |
| 1 | g.152304741C>T | CA1103513 | FLG | c.10145G>A (p.Arg3382His) c.9109-908G>A (n.9109-908G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304742G>A | CA1103514 | FLG | c.10144C>T (p.Arg3382Cys) c.9109-909C>T (n.9109-909C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.152304742G>C | CA342072874 | FLG | c.10144C>G (p.Arg3382Gly) c.9109-909C>G (n.9109-909C>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304742G= | CA1142154828 | FLG | c.10144C= (p.Arg3382=) c.9109-909C= (n.9109-909C=) | |
| 1 | g.152304742G>T | CA342072876 | FLG | c.10144C>A (p.Arg3382Ser) c.9109-909C>A (n.9109-909C>A) | gnomAD v4 |
| 1 | g.152304743T>A | CA420926810 | FLG | c.10143A>T (p.Gly3381=) c.9109-910A>T (n.9109-910A>T) | |
| 1 | g.152304743T>C | CA420926812 | FLG | c.10143A>G (p.Gly3381=) c.9109-910A>G (n.9109-910A>G) | |
| 1 | g.152304743T>G | CA420926807 | FLG | c.10143A>C (p.Gly3381=) c.9109-910A>C (n.9109-910A>C) | |
| 1 | g.152304744C>A | CA342072883 | FLG | c.10142G>T (p.Gly3381Val) c.9109-911G>T (n.9109-911G>T) | |
| 1 | g.152304744C= | CA1141620137 | FLG | c.10142G= (p.Gly3381=) c.9109-911G= (n.9109-911G=) | |
| 1 | g.152304744C>G | CA342072880 | FLG | c.10142G>C (p.Gly3381Ala) c.9109-911G>C (n.9109-911G>C) | |
| 1 | g.152304744C>T | CA1103515 | FLG | c.10142G>A (p.Gly3381Glu) c.9109-911G>A (n.9109-911G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304745C>A | CA342072888 | FLG | c.10141G>T (p.Gly3381Ter) c.9109-912G>T (n.9109-912G>T) | dbSNP |
| 1 | g.152304745C= | CA2479947611 | FLG | c.10141G= (p.Gly3381=) c.9109-912G= (n.9109-912G=) | |
| 1 | g.152304745C>G | CA1103516 | FLG | c.10141G>C (p.Gly3381Arg) c.9109-912G>C (n.9109-912G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304745C>T | CA342072891 | FLG | c.10141G>A (p.Gly3381Arg) c.9109-912G>A (n.9109-912G>A) | |
| 1 | g.152304746A= | CA2479947612 | FLG | c.10140T= (p.Ser3380=) c.9109-913T= (n.9109-913T=) | |
| 1 | g.152304746A>C | CA420926817 | FLG | c.10140T>G (p.Ser3380=) c.9109-913T>G (n.9109-913T>G) | |
| 1 | g.152304746A>G | CA420926815 | FLG | c.10140T>C (p.Ser3380=) c.9109-913T>C (n.9109-913T>C) | |
| 1 | g.152304746A>T | CA1103517 | FLG | c.10140T>A (p.Ser3380=) c.9109-913T>A (n.9109-913T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304747G>A | CA342072895 | FLG | c.10139C>T (p.Ser3380Phe) c.9109-914C>T (n.9109-914C>T) | dbSNP |
| 1 | g.152304747G>C | CA342072897 | FLG | c.10139C>G (p.Ser3380Cys) c.9109-914C>G (n.9109-914C>G) | |
| 1 | g.152304747G= | CA2479947613 | FLG | c.10139C= (p.Ser3380=) c.9109-914C= (n.9109-914C=) | |
| 1 | g.152304747G>T | CA342072899 | FLG | c.10139C>A (p.Ser3380Tyr) c.9109-914C>A (n.9109-914C>A) | |
| 1 | g.152304748A= | CA2479947614 | FLG | c.10138T= (p.Ser3380=) c.9109-915T= (n.9109-915T=) | |
| 1 | g.152304748A>C | CA342072904 | FLG | c.10138T>G (p.Ser3380Ala) c.9109-915T>G (n.9109-915T>G) | |
| 1 | g.152304748A>G | CA342072906 | FLG | c.10138T>C (p.Ser3380Pro) c.9109-915T>C (n.9109-915T>C) | |
| 1 | g.152304748A>T | CA342072908 | FLG | c.10138T>A (p.Ser3380Thr) c.9109-915T>A (n.9109-915T>A) | dbSNP gnomAD v4 |
| 1 | g.152304748_152304749delinsAC | CA2479947615 | FLG | c.10137_10138delinsGT (p.Arg3379=) c.9109-916_9109-915delinsGT (n.9109-916_9109-915delinsGT) | |
| 1 | g.152304749C>A | CA342072910 | FLG | c.10137G>T (p.Arg3379Ser) c.9109-916G>T (n.9109-916G>T) | gnomAD v4 |
| 1 | g.152304749C= | CA2479947617 | FLG | c.10137G= (p.Arg3379=) c.9109-916G= (n.9109-916G=) | |
| 1 | g.152304749C>G | CA342072912 | FLG | c.10137G>C (p.Arg3379Ser) c.9109-916G>C (n.9109-916G>C) | |
| 1 | g.152304749C>T | CA420926820 | FLG | c.10137G>A (p.Arg3379=) c.9109-916G>A (n.9109-916G>A) | dbSNP gnomAD v4 |
| 1 | g.152304750del | CA2479947616 | FLG | c.10137del (p.Arg3379SerfsTer12) c.9109-916del (n.9109-916del) | dbSNP gnomAD v4 |
| 1 | g.152304750C>A | CA1103519 | FLG | c.10136G>T (p.Arg3379Met) c.9109-917G>T (n.9109-917G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.152304750C= | CA1143492661 | FLG | c.10136G= (p.Arg3379=) c.9109-917G= (n.9109-917G=) | |
| 1 | g.152304750C>G | CA1103518 | FLG | c.10136G>C (p.Arg3379Thr) c.9109-917G>C (n.9109-917G>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304750C>T | CA342072920 | FLG | c.10136G>A (p.Arg3379Lys) c.9109-917G>A (n.9109-917G>A) | gnomAD v4 |
| 1 | g.152304751T>A | CA342072925 | FLG | c.10135A>T (p.Arg3379Trp) c.9109-918A>T (n.9109-918A>T) | dbSNP gnomAD v4 |
| 1 | g.152304751T>C | CA342072922 | FLG | c.10135A>G (p.Arg3379Gly) c.9109-918A>G (n.9109-918A>G) | dbSNP |
| 1 | g.152304751T>G | CA420926826 | FLG | c.10135A>C (p.Arg3379=) c.9109-918A>C (n.9109-918A>C) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304751T= | CA2479947618 | FLG | c.10135A= (p.Arg3379=) c.9109-918A= (n.9109-918A=) | |
| 1 | g.152304752T>A | CA420926832 | FLG | c.10134A>T (p.Gly3378=) c.9109-919A>T (n.9109-919A>T) | |
| 1 | g.152304752T>C | CA420926831 | FLG | c.10134A>G (p.Gly3378=) c.9109-919A>G (n.9109-919A>G) | |
| 1 | g.152304752T>G | CA420926829 | FLG | c.10134A>C (p.Gly3378=) c.9109-919A>C (n.9109-919A>C) | |
| 1 | g.152304752_152304753delinsTC | CA2479947619 | FLG | c.10133_10134delinsGA (p.Gly3378=) c.9109-920_9109-919delinsGA (n.9109-920_9109-919delinsGA) | |
| 1 | g.152304753C>A | CA342072929 | FLG | c.10133G>T (p.Gly3378Val) c.9109-920G>T (n.9109-920G>T) | |
| 1 | g.152304753C= | CA1147698140 | FLG | c.10133G= (p.Gly3378=) c.9109-920G= (n.9109-920G=) | |
| 1 | g.152304753C>G | CA342072930 | FLG | c.10133G>C (p.Gly3378Ala) c.9109-920G>C (n.9109-920G>C) | |
| 1 | g.152304753C>T | CA1103520 | FLG | c.10133G>A (p.Gly3378Glu) c.9109-920G>A (n.9109-920G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.152304757del | CA526662128 | FLG | c.10133del (p.Gly3378GlufsTer13) c.9109-920del (n.9109-920del) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.152304754C>A | CA342072934 | FLG | c.10132G>T (p.Gly3378Ter) c.9109-921G>T (n.9109-921G>T) | |
| 1 | g.152304754C= | CA2479947620 | FLG | c.10132G= (p.Gly3378=) c.9109-921G= (n.9109-921G=) | |
| 1 | g.152304754C>G | CA342072936 | FLG | c.10132G>C (p.Gly3378Arg) c.9109-921G>C (n.9109-921G>C) | |
| 1 | g.152304754C>T | CA1103521 | FLG | c.10132G>A (p.Gly3378Arg) c.9109-921G>A (n.9109-921G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |