Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152310681_152310690del | CA1007765919 | FLG | c.4198_4207del (p.Gly1400LysfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152310683_152310699delinsATGTCCCTCACTGTTAG | CA2479951008 | FLG | c.4187_4203delinsCTAACAGTGAGGGACAT (p.Thr1396=) | |
1 | g.152310686_152310701del | CA889438152 | FLG | c.4187_4202del (p.Thr1396IlefsTer?) | dbSNP gnomAD v3 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.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 |
1 | g.152310694T>G | CA342076678 | FLG | c.4192A>C (p.Ser1398Arg) | COSMIC |
1 | g.152310695G>A | CA420930319 | FLG | c.4191C>T (p.Asn1397=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310695G>C | CA342076682 | FLG | c.4191C>G (p.Asn1397Lys) | COSMIC |
1 | g.152310695G= | CA2479951015 | FLG | c.4191C= (p.Asn1397=) | |
1 | g.152310695G>T | CA342076685 | FLG | c.4191C>A (p.Asn1397Lys) | |
1 | g.152310696T>A | CA342076693 | FLG | c.4190A>T (p.Asn1397Ile) | |
1 | g.152310696T>C | CA342076688 | FLG | c.4190A>G (p.Asn1397Ser) | |
1 | g.152310696T>G | CA342076690 | FLG | c.4190A>C (p.Asn1397Thr) | |
1 | g.152310697T>A | CA342076698 | FLG | c.4189A>T (p.Asn1397Tyr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152310697T>C | CA1106335 | FLG | c.4189A>G (p.Asn1397Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310697T>G | CA342076708 | FLG | c.4189A>C (p.Asn1397His) | |
1 | g.152310697T= | CA1141258317 | FLG | c.4189A= (p.Asn1397=) | |
1 | g.152310698A>C | CA420930325 | FLG | c.4188T>G (p.Thr1396=) | |
1 | g.152310698A>G | CA420930326 | FLG | c.4188T>C (p.Thr1396=) | |
1 | g.152310698A>T | CA420930328 | FLG | c.4188T>A (p.Thr1396=) | |
1 | g.152310699G>A | CA342076713 | FLG | c.4187C>T (p.Thr1396Ile) | dbSNP |
1 | g.152310699G>C | CA1106336 | FLG | c.4187C>G (p.Thr1396Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152310699G= | CA1147142238 | FLG | c.4187C= (p.Thr1396=) | |
1 | g.152310699G>T | CA342076718 | FLG | c.4187C>A (p.Thr1396Asn) | |
1 | g.152310700T>A | CA342076723 | FLG | c.4186A>T (p.Thr1396Ser) | gnomAD v4 |
1 | g.152310700T>C | CA342076726 | FLG | c.4186A>G (p.Thr1396Ala) | |
1 | g.152310700T>G | CA342076731 | FLG | c.4186A>C (p.Thr1396Pro) | |
1 | g.152310701G>A | CA420930331 | FLG | c.4185C>T (p.Val1395=) | |
1 | g.152310701G>C | CA420930333 | FLG | c.4185C>G (p.Val1395=) | |
1 | g.152310701G= | CA1143477871 | FLG | c.4185C= (p.Val1395=) | |
1 | g.152310701G>T | CA1106337 | FLG | c.4185C>A (p.Val1395=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |