Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152310678_152310688delinsTCTGAATGTCC | CA2479951007 | FLG | c.4198_4208delinsGGACATTCAGA (p.Gly1400=) | |
1 | g.152310681_152310690del | CA1007765919 | FLG | c.4198_4207del (p.Gly1400LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310683A= | CA1144108406 | FLG | c.4203T= (p.His1401=) | |
1 | g.152310683A>C | CA342076584 | FLG | c.4203T>G (p.His1401Gln) | |
1 | g.152310683A>G | CA420930299 | FLG | c.4203T>C (p.His1401=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310683A>T | CA1106330 | FLG | c.4203T>A (p.His1401Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310683_152310699delinsATGTCCCTCACTGTTAG | CA2479951008 | FLG | c.4187_4203delinsCTAACAGTGAGGGACAT (p.Thr1396=) | |
1 | g.152310684T>A | CA342076588 | FLG | c.4202A>T (p.His1401Leu) | |
1 | g.152310684T>C | CA1106331 | FLG | c.4202A>G (p.His1401Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310684T>G | CA342076593 | FLG | c.4202A>C (p.His1401Pro) | |
1 | g.152310684T= | CA1144168938 | FLG | c.4202A= (p.His1401=) | |
1 | g.152310686_152310701del | CA889438152 | FLG | c.4187_4202del (p.Thr1396IlefsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310685G>A | CA1106332 | FLG | c.4201C>T (p.His1401Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152310685G>C | CA342076598 | FLG | c.4201C>G (p.His1401Asp) | |
1 | g.152310685G= | CA1149147543 | FLG | c.4201C= (p.His1401=) | |
1 | g.152310685G>T | CA342076601 | FLG | c.4201C>A (p.His1401Asn) | |
1 | g.152310686T>A | CA420930303 | FLG | c.4200A>T (p.Gly1400=) | |
1 | g.152310686T>C | CA420930304 | FLG | c.4200A>G (p.Gly1400=) | |
1 | g.152310686T>G | CA420930305 | FLG | c.4200A>C (p.Gly1400=) | |
1 | g.152310687C>A | CA342076610 | FLG | c.4199G>T (p.Gly1400Val) | dbSNP gnomAD v4 COSMIC |
1 | g.152310687C= | CA2479951009 | FLG | c.4199G= (p.Gly1400=) | |
1 | g.152310687C>G | CA342076607 | FLG | c.4199G>C (p.Gly1400Ala) | |
1 | g.152310687C>T | CA342076605 | FLG | c.4199G>A (p.Gly1400Glu) | |
1 | g.152310688C>A | CA342076613 | FLG | c.4198G>T (p.Gly1400Ter) | gnomAD v4 |
1 | g.152310688C>G | CA342076616 | FLG | c.4198G>C (p.Gly1400Arg) | gnomAD v4 |
1 | g.152310688C>T | CA342076619 | FLG | c.4198G>A (p.Gly1400Arg) | gnomAD v4 |
1 | g.152310688_152310690delinsCCT | CA2479951011 | FLG | c.4196_4198delinsAGG (p.Glu1399=) | |
1 | g.152310688_152310692delinsCCTCA | CA2479951010 | FLG | c.4194_4198delinsTGAGG (p.Ser1398=) | |
1 | g.152310689C>A | CA342076630 | FLG | c.4197G>T (p.Glu1399Asp) | |
1 | g.152310689C>G | CA342076633 | FLG | c.4197G>C (p.Glu1399Asp) | |
1 | g.152310689C>T | CA420930309 | FLG | c.4197G>A (p.Glu1399=) | gnomAD v4 |
1 | g.152310690_152310691del | CA889438167 | FLG | c.4196_4197del (p.Glu1399GlyfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310691_152310694del | CA1106333 | FLG | c.4194_4197del (p.Ser1398ArgfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310690T>A | CA342076644 | FLG | c.4196A>T (p.Glu1399Val) | |
1 | g.152310690T>C | CA342076639 | FLG | c.4196A>G (p.Glu1399Gly) | |
1 | g.152310690T>G | CA342076642 | FLG | c.4196A>C (p.Glu1399Ala) | |
1 | g.152310691C>A | CA342076648 | FLG | c.4195G>T (p.Glu1399Ter) | |
1 | g.152310691C= | CA2479951012 | FLG | c.4195G= (p.Glu1399=) | |
1 | g.152310691C>G | CA342076650 | FLG | c.4195G>C (p.Glu1399Gln) | |
1 | g.152310691C>T | CA30555077 | FLG | c.4195G>A (p.Glu1399Lys) | dbSNP gnomAD v4 |
1 | g.152310692A= | CA2479951013 | FLG | c.4194T= (p.Ser1398=) | |
1 | g.152310692A>C | CA1106334 | FLG | c.4194T>G (p.Ser1398Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310692A>G | CA420930314 | FLG | c.4194T>C (p.Ser1398=) | |
1 | g.152310692A>T | CA342076657 | FLG | c.4194T>A (p.Ser1398Arg) | gnomAD v4 |
1 | g.152310693C>A | CA342076663 | FLG | c.4193G>T (p.Ser1398Ile) | |
1 | g.152310693C= | CA2479951014 | FLG | c.4193G= (p.Ser1398=) | |
1 | g.152310693C>G | CA342076665 | FLG | c.4193G>C (p.Ser1398Thr) | gnomAD v4 |
1 | g.152310693C>T | CA342076668 | FLG | c.4193G>A (p.Ser1398Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310694T>A | CA342076671 | FLG | c.4192A>T (p.Ser1398Cys) | |
1 | g.152310694T>C | CA342076674 | FLG | c.4192A>G (p.Ser1398Gly) | gnomAD v4 |