| 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.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) |