Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.152308833_152308858delinsCTGGAGCTGTCTGCTGACTGGAGCTG | CA1148869125 | FLG | c.6028_6053delinsCAGCTCCAGTCAGCAGACAGCTCCAG (p.Gln2010=) | |
1 | g.152308842_152308858del | CA1105443 | FLG | c.6037_6053del (p.Ser2013ThrfsTer24) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308856C>A | CA342058538 | FLG | c.6030G>T (p.Gln2010His) | |
1 | g.152308856C= | CA1143520124 | FLG | c.6030G= (p.Gln2010=) | |
1 | g.152308856C>G | CA342058539 | FLG | c.6030G>C (p.Gln2010His) | |
1 | g.152308856C>T | CA1105456 | FLG | c.6030G>A (p.Gln2010=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308856_152308859delinsCTGG | CA2479949951 | FLG | c.6027_6030delinsCCAG (p.His2009=) | |
1 | g.152308857T>A | CA342058546 | FLG | c.6029A>T (p.Gln2010Leu) | |
1 | g.152308857T>C | CA342058549 | FLG | c.6029A>G (p.Gln2010Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308857T>G | CA342058558 | FLG | c.6029A>C (p.Gln2010Pro) | |
1 | g.152308857T= | CA2479949952 | FLG | c.6029A= (p.Gln2010=) | |
1 | g.152308863_152308865del | CA526662222 | FLG | c.6027_6029del (p.His2009del) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308858G>A | CA1105457 | FLG | c.6028C>T (p.Gln2010Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308858G>C | CA342058559 | FLG | c.6028C>G (p.Gln2010Glu) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308858G= | CA2479949953 | FLG | c.6028C= (p.Gln2010=) | |
1 | g.152308858G>T | CA342058561 | FLG | c.6028C>A (p.Gln2010Lys) | |
1 | g.152308859G>A | CA420928924 | FLG | c.6027C>T (p.His2009=) | |
1 | g.152308859G>C | CA342058570 | FLG | c.6027C>G (p.His2009Gln) | gnomAD v4 |
1 | g.152308859G= | CA2479949954 | FLG | c.6027C= (p.His2009=) | |
1 | g.152308859G>T | CA342058564 | FLG | c.6027C>A (p.His2009Gln) | dbSNP gnomAD v4 |
1 | g.152308860T>A | CA342058574 | FLG | c.6026A>T (p.His2009Leu) | |
1 | g.152308860T>C | CA342058579 | FLG | c.6026A>G (p.His2009Arg) | |
1 | g.152308860T>G | CA342058585 | FLG | c.6026A>C (p.His2009Pro) | dbSNP gnomAD v4 |
1 | g.152308860T= | CA2479949955 | FLG | c.6026A= (p.His2009=) | |
1 | g.152308861G>A | CA30551329 | FLG | c.6025C>T (p.His2009Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308861G>C | CA342058589 | FLG | c.6025C>G (p.His2009Asp) | dbSNP gnomAD v4 |
1 | g.152308861G= | CA1145807014 | FLG | c.6025C= (p.His2009=) | |
1 | g.152308861G>T | CA342058597 | FLG | c.6025C>A (p.His2009Asn) | COSMIC |
1 | g.152308862G>A | CA420928925 | FLG | c.6024C>T (p.His2008=) | gnomAD v4 |
1 | g.152308862G>C | CA1105458 | FLG | c.6024C>G (p.His2008Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308862G= | CA2479949956 | FLG | c.6024C= (p.His2008=) | |
1 | g.152308862G>T | CA342058602 | FLG | c.6024C>A (p.His2008Gln) | dbSNP |
1 | g.152308863del | CA2746124206 | FLG | c.6023del (p.His2008ProfsTer?) | |
1 | g.152308863T>A | CA342058606 | FLG | c.6023A>T (p.His2008Leu) | |
1 | g.152308863T>C | CA1105459 | FLG | c.6023A>G (p.His2008Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308863T>G | CA342058609 | FLG | c.6023A>C (p.His2008Pro) | dbSNP |
1 | g.152308863T= | CA1141322024 | FLG | c.6023A= (p.His2008=) | |
1 | g.152308863dup | CA526662223 | FLG | c.6023dup (p.His2008GlnfsTer?) | gnomAD v2 gnomAD v4 |
1 | g.152308864G>A | CA342058613 | FLG | c.6022C>T (p.His2008Tyr) | |
1 | g.152308864G>C | CA342058611 | FLG | c.6022C>G (p.His2008Asp) | |
1 | g.152308864G>T | CA342058610 | FLG | c.6022C>A (p.His2008Asn) | |
1 | g.152308865G>A | CA1105460 | FLG | c.6021C>T (p.Ser2007=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308865G>C | CA420929047 | FLG | c.6021C>G (p.Ser2007=) | |
1 | g.152308865G= | CA2479949958 | FLG | c.6021C= (p.Ser2007=) | |
1 | g.152308865G>T | CA420929043 | FLG | c.6021C>A (p.Ser2007=) | gnomAD v4 |
1 | g.152308865_152308868delinsGGAT | CA2479949957 | FLG | c.6018_6021delinsATCC (p.Gly2006=) | |
1 | g.152308866G>A | CA342058618 | FLG | c.6020C>T (p.Ser2007Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152308866G>C | CA342058622 | FLG | c.6020C>G (p.Ser2007Cys) | |
1 | g.152308866G= | CA2479949959 | FLG | c.6020C= (p.Ser2007=) | |
1 | g.152308866G>T | CA342058624 | FLG | c.6020C>A (p.Ser2007Tyr) |