1 | g.152308832_152308849delinsTCTGGAGCTGTCTGCTGA | CA2479949936 | FLG | c.6037_6054delinsTCAGCAGACAGCTCCAGA (p.Ser2013=)
| |
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.152308834T>A | CA342058303 | FLG | c.6052A>T (p.Arg2018Ter)
| |
1 | g.152308834T>C | CA342058306 | FLG | c.6052A>G (p.Arg2018Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308834T>G | CA420928911 | FLG | c.6052A>C (p.Arg2018=)
| |
1 | g.152308834T= | CA2479949937 | FLG | c.6052A= (p.Arg2018=)
| |
1 | g.152308835G>A | CA420928912 | FLG | c.6051C>T (p.Ser2017=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308835G>C | CA420928914 | FLG | c.6051C>G (p.Ser2017=)
| |
1 | g.152308835G>T | CA420928913 | FLG | c.6051C>A (p.Ser2017=)
| |
1 | g.152308836G>A | CA342058311 | FLG | c.6050C>T (p.Ser2017Phe)
| |
1 | g.152308836G>C | CA342058313 | FLG | c.6050C>G (p.Ser2017Cys)
| |
1 | g.152308836G>T | CA342058319 | FLG | c.6050C>A (p.Ser2017Tyr)
| |
1 | g.152308837A= | CA2479949938 | FLG | c.6049T= (p.Ser2017=)
| |
1 | g.152308837A>C | CA342058327 | FLG | c.6049T>G (p.Ser2017Ala)
| |
1 | g.152308837A>G | CA1105446 | FLG | c.6049T>C (p.Ser2017Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308837A>T | CA342058332 | FLG | c.6049T>A (p.Ser2017Thr)
| |
1 | g.152308838G>A | CA1105447 | FLG | c.6048C>T (p.Ser2016=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308838G>C | CA342058336 | FLG | c.6048C>G (p.Ser2016Arg)
| |
1 | g.152308838G= | CA2479949939 | FLG | c.6048C= (p.Ser2016=)
| |
1 | g.152308838G>T | CA342058339 | FLG | c.6048C>A (p.Ser2016Arg)
| |
1 | g.152308839C>A | CA342058365 | FLG | c.6047G>T (p.Ser2016Ile)
| |
1 | g.152308839C= | CA2479949940 | FLG | c.6047G= (p.Ser2016=)
| |
1 | g.152308839C>G | CA342058372 | FLG | c.6047G>C (p.Ser2016Thr)
| gnomAD v4 |
1 | g.152308839C>T | CA342058357 | FLG | c.6047G>A (p.Ser2016Asn)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308840T>A | CA342058377 | FLG | c.6046A>T (p.Ser2016Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308840T>C | CA1105448 | FLG | c.6046A>G (p.Ser2016Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308840T>G | CA342058388 | FLG | c.6046A>C (p.Ser2016Arg)
| |
1 | g.152308840T= | CA1148567099 | FLG | c.6046A= (p.Ser2016=)
| |
1 | g.152308841G>A | CA420928915 | FLG | c.6045C>T (p.Asp2015=)
| dbSNP gnomAD v4 |
1 | g.152308841G>C | CA342058392 | FLG | c.6045C>G (p.Asp2015Glu)
| |
1 | g.152308841G= | CA1140788911 | FLG | c.6045C= (p.Asp2015=)
| |
1 | g.152308841G>T | CA1105449 | FLG | c.6045C>A (p.Asp2015Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308842T>A | CA342058404 | FLG | c.6044A>T (p.Asp2015Val)
| |
1 | g.152308842T>C | CA342058400 | FLG | c.6044A>G (p.Asp2015Gly)
| |
1 | g.152308842T>G | CA342058397 | FLG | c.6044A>C (p.Asp2015Ala)
| |
1 | g.152308843C>A | CA342058406 | FLG | c.6043G>T (p.Asp2015Tyr)
| |
1 | g.152308843C>G | CA342058410 | FLG | c.6043G>C (p.Asp2015His)
| |
1 | g.152308843C>T | CA342058412 | FLG | c.6043G>A (p.Asp2015Asn)
| |
1 | g.152308844T>A | CA420928916 | FLG | c.6042A>T (p.Ala2014=)
| |
1 | g.152308844T>C | CA420928917 | FLG | c.6042A>G (p.Ala2014=)
| |
1 | g.152308844T>G | CA420928918 | FLG | c.6042A>C (p.Ala2014=)
| |
1 | g.152308845G>A | CA342058415 | FLG | c.6041C>T (p.Ala2014Val)
| ClinVar dbSNP gnomAD v4 |
1 | g.152308845G>C | CA342058418 | FLG | c.6041C>G (p.Ala2014Gly)
| COSMIC |
1 | g.152308845G= | CA2479949941 | FLG | c.6041C= (p.Ala2014=)
| |
1 | g.152308845G>T | CA342058420 | FLG | c.6041C>A (p.Ala2014Glu)
| |
1 | g.152308846C>A | CA342058424 | FLG | c.6040G>T (p.Ala2014Ser)
| gnomAD v4 |
1 | g.152308846C= | CA2479949942 | FLG | c.6040G= (p.Ala2014=)
| |
1 | g.152308846C>G | CA342058430 | FLG | c.6040G>C (p.Ala2014Pro)
| ClinVar gnomAD v4 |
1 | g.152308846C>T | CA342058427 | FLG | c.6040G>A (p.Ala2014Thr)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308847T>A | CA1105450 | FLG | c.6039A>T (p.Ser2013=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308847T>C | CA420928919 | FLG | c.6039A>G (p.Ser2013=)
| |
1 | g.152308847T>G | CA420928920 | FLG | c.6039A>C (p.Ser2013=)
| gnomAD v4 |
1 | g.152308847T= | CA2479949943 | FLG | c.6039A= (p.Ser2013=)
| |
1 | g.152308848G>A | CA342058436 | FLG | c.6038C>T (p.Ser2013Leu)
| dbSNP COSMIC |
1 | g.152308848G>C | CA342058438 | FLG | c.6038C>G (p.Ser2013Ter)
| gnomAD v4 COSMIC |
1 | g.152308848G= | CA2479949944 | FLG | c.6038C= (p.Ser2013=)
| |
1 | g.152308848G>T | CA342058442 | FLG | c.6038C>A (p.Ser2013Ter)
| |
1 | g.152308849A= | CA2479949945 | FLG | c.6037T= (p.Ser2013=)
| |
1 | g.152308849A>C | CA342058465 | FLG | c.6037T>G (p.Ser2013Ala)
| |
1 | g.152308849A>G | CA342058470 | FLG | c.6037T>C (p.Ser2013Pro)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308849A>T | CA342058472 | FLG | c.6037T>A (p.Ser2013Thr)
| gnomAD v4 |
1 | g.152308850C>A | CA342058476 | FLG | c.6036G>T (p.Gln2012His)
| |
1 | g.152308850C= | CA2479949947 | FLG | c.6036G= (p.Gln2012=)
| |
1 | g.152308850C>G | CA342058477 | FLG | c.6036G>C (p.Gln2012His)
| gnomAD v4 |
1 | g.152308850C>T | CA420928921 | FLG | c.6036G>A (p.Gln2012=)
| dbSNP |
1 | g.152308850_152308852delinsCTG | CA2479949946 | FLG | c.6034_6036delinsCAG (p.Gln2012=)
| |
1 | g.152308851T>A | CA342058479 | FLG | c.6035A>T (p.Gln2012Leu)
| |
1 | g.152308851T>C | CA342058481 | FLG | c.6035A>G (p.Gln2012Arg)
| dbSNP |
1 | g.152308851T>G | CA342058483 | FLG | c.6035A>C (p.Gln2012Pro)
| dbSNP gnomAD v4 |
1 | g.152308851T= | CA2479949948 | FLG | c.6035A= (p.Gln2012=)
| |
1 | g.152308851_152308852del | CA526662220 | FLG | c.6034_6035del (p.Gln2012ValfsTer30)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308851_152308854delinsTGGA | CA2479949949 | FLG | c.6032_6035delinsTCCA (p.Leu2011=)
| |
1 | g.152308852G>A | CA342058495 | FLG | c.6034C>T (p.Gln2012Ter)
| ClinVar gnomAD v4 |
1 | g.152308852G>C | CA342058499 | FLG | c.6034C>G (p.Gln2012Glu)
| |
1 | g.152308852G>T | CA342058502 | FLG | c.6034C>A (p.Gln2012Lys)
| |
1 | g.152308853del | CA2574058017 | FLG | c.6034del (p.Gln2012SerfsTer?)
| |
1 | g.152308853_152308855del | CA1105451 | FLG | c.6032_6034del (p.Leu2011del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308853G>A | CA1105452 | FLG | c.6033C>T (p.Leu2011=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308853G>C | CA420928922 | FLG | c.6033C>G (p.Leu2011=)
| |
1 | g.152308853G= | CA1149132787 | FLG | c.6033C= (p.Leu2011=)
| |
1 | g.152308853G>T | CA420928923 | FLG | c.6033C>A (p.Leu2011=)
| |
1 | g.152308854A= | CA2479949950 | FLG | c.6032T= (p.Leu2011=)
| |
1 | g.152308854A>C | CA342058513 | FLG | c.6032T>G (p.Leu2011Arg)
| |
1 | g.152308854A>G | CA1105453 | FLG | c.6032T>C (p.Leu2011Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308854A>T | CA342058517 | FLG | c.6032T>A (p.Leu2011His)
| |
1 | g.152308855G>A | CA1105455 | FLG | c.6031C>T (p.Leu2011Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308855G>C | CA342058528 | FLG | c.6031C>G (p.Leu2011Val)
| |
1 | g.152308855G= | CA1141750778 | FLG | c.6031C= (p.Leu2011=)
| |
1 | g.152308855G>T | CA1105454 | FLG | c.6031C>A (p.Leu2011Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 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)
| |
1 | g.152308866_152308868del | CA1105461 | FLG | c.6018_6020del (p.Ser2007del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308867A= | CA2479949960 | FLG | c.6019T= (p.Ser2007=)
| |
1 | g.152308867A>C | CA342058629 | FLG | c.6019T>G (p.Ser2007Ala)
| gnomAD v4 |
1 | g.152308867A>G | CA342058632 | FLG | c.6019T>C (p.Ser2007Pro)
| gnomAD v4 |
1 | g.152308867A>T | CA342058636 | FLG | c.6019T>A (p.Ser2007Thr)
| dbSNP gnomAD v4 |
1 | g.152308868T>A | CA420929054 | FLG | c.6018A>T (p.Gly2006=)
| gnomAD v4 |
1 | g.152308868T>C | CA1105462 | FLG | c.6018A>G (p.Gly2006=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308868T>G | CA420929057 | FLG | c.6018A>C (p.Gly2006=)
| |
1 | g.152308868T= | CA2479949961 | FLG | c.6018A= (p.Gly2006=)
| |
1 | g.152308869C>A | CA342058661 | FLG | c.6017G>T (p.Gly2006Val)
| |
1 | g.152308869C= | CA2479949962 | FLG | c.6017G= (p.Gly2006=)
| |
1 | g.152308869C>G | CA342058667 | FLG | c.6017G>C (p.Gly2006Ala)
| |
1 | g.152308869C>T | CA342058671 | FLG | c.6017G>A (p.Gly2006Glu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308870C>A | CA342058693 | FLG | c.6016G>T (p.Gly2006Ter)
| |
1 | g.152308870C>G | CA342058687 | FLG | c.6016G>C (p.Gly2006Arg)
| |
1 | g.152308870C>T | CA342058678 | FLG | c.6016G>A (p.Gly2006Arg)
| |
1 | g.152308870_152308872delinsCAT | CA2479949963 | FLG | c.6014_6016delinsATG (p.His2005=)
| |
1 | g.152308871A= | CA2479949964 | FLG | c.6015T= (p.His2005=)
| |
1 | g.152308871A>C | CA342058696 | FLG | c.6015T>G (p.His2005Gln)
| dbSNP |
1 | g.152308871A>G | CA420929063 | FLG | c.6015T>C (p.His2005=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308871A>T | CA342058698 | FLG | c.6015T>A (p.His2005Gln)
| |
1 | g.152308871_152308872del | CA889399856 | FLG | c.6014_6015del (p.His2005ArgfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308872T>A | CA342058702 | FLG | c.6014A>T (p.His2005Leu)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.152308872T>C | CA342058710 | FLG | c.6014A>G (p.His2005Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308872T>G | CA342058712 | FLG | c.6014A>C (p.His2005Pro)
| |
1 | g.152308872T= | CA2479949965 | FLG | c.6014A= (p.His2005=)
| |
1 | g.152308873G>A | CA342058727 | FLG | c.6013C>T (p.His2005Tyr)
| gnomAD v4 |
1 | g.152308873G>C | CA342058732 | FLG | c.6013C>G (p.His2005Asp)
| |
1 | g.152308873G>T | CA342058738 | FLG | c.6013C>A (p.His2005Asn)
| |
1 | g.152308874T>A | CA342058742 | FLG | c.6012A>T (p.Arg2004Ser)
| |
1 | g.152308874T>C | CA420929068 | FLG | c.6012A>G (p.Arg2004=)
| |
1 | g.152308874T>G | CA342058747 | FLG | c.6012A>C (p.Arg2004Ser)
| COSMIC |
1 | g.152308875C>A | CA342058751 | FLG | c.6011G>T (p.Arg2004Ile)
| |
1 | g.152308875C= | CA2479949966 | FLG | c.6011G= (p.Arg2004=)
| |
1 | g.152308875C>G | CA342058756 | FLG | c.6011G>C (p.Arg2004Thr)
| dbSNP gnomAD v2 |
1 | g.152308875C>T | CA342058760 | FLG | c.6011G>A (p.Arg2004Lys)
| |
1 | g.152308876T>A | CA342058762 | FLG | c.6010A>T (p.Arg2004Ter)
| |
1 | g.152308876T>C | CA342058761 | FLG | c.6010A>G (p.Arg2004Gly)
| |
1 | g.152308876T>G | CA420929072 | FLG | c.6010A>C (p.Arg2004=)
| |
1 | g.152308877T>A | CA342058764 | FLG | c.6009A>T (p.Glu2003Asp)
| |
1 | g.152308877T>C | CA1105463 | FLG | c.6009A>G (p.Glu2003=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308877T>G | CA1105464 | FLG | c.6009A>C (p.Glu2003Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308877T= | CA2479949967 | FLG | c.6009A= (p.Glu2003=)
| |
1 | g.152308878T>A | CA342058772 | FLG | c.6008A>T (p.Glu2003Val)
| |
1 | g.152308878T>C | CA342058773 | FLG | c.6008A>G (p.Glu2003Gly)
| gnomAD v4 |
1 | g.152308878T>G | CA342058774 | FLG | c.6008A>C (p.Glu2003Ala)
| |
1 | g.152308879C>A | CA342058777 | FLG | c.6007G>T (p.Glu2003Ter)
| |
1 | g.152308879C= | CA2479949968 | FLG | c.6007G= (p.Glu2003=)
| |
1 | g.152308879C>G | CA1105465 | FLG | c.6007G>C (p.Glu2003Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308879C>T | CA342058783 | FLG | c.6007G>A (p.Glu2003Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308880T>A | CA420929081 | FLG | c.6006A>T (p.Gly2002=)
| |
1 | g.152308880T>C | CA1105466 | FLG | c.6006A>G (p.Gly2002=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308880T>G | CA420929082 | FLG | c.6006A>C (p.Gly2002=)
| |
1 | g.152308880T= | CA2479949969 | FLG | c.6006A= (p.Gly2002=)
| |
1 | g.152308881C>A | CA342058789 | FLG | c.6005G>T (p.Gly2002Val)
| |
1 | g.152308881C= | CA2479949970 | FLG | c.6005G= (p.Gly2002=)
| |
1 | g.152308881C>G | CA342058795 | FLG | c.6005G>C (p.Gly2002Ala)
| gnomAD v4 |
1 | g.152308881C>T | CA1105467 | FLG | c.6005G>A (p.Gly2002Glu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308882C>A | CA342058821 | FLG | c.6004G>T (p.Gly2002Ter)
| |
1 | g.152308882C= | CA2479949971 | FLG | c.6004G= (p.Gly2002=)
| |
1 | g.152308882C>G | CA342058807 | FLG | c.6004G>C (p.Gly2002Arg)
| |
1 | g.152308882C>T | CA1105468 | FLG | c.6004G>A (p.Gly2002Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308883T>A | CA420929088 | FLG | c.6003A>T (p.Ala2001=)
| |
1 | g.152308883T>C | CA420929089 | FLG | c.6003A>G (p.Ala2001=)
| |
1 | g.152308883T>G | CA420929090 | FLG | c.6003A>C (p.Ala2001=)
| |
1 | g.152308885_152308890del | CA2574058018 | FLG | c.5998_6003del (p.Ser2000_Ala2001del)
| gnomAD v4 |
1 | g.152308884G>A | CA342058825 | FLG | c.6002C>T (p.Ala2001Val)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308884G>C | CA342058832 | FLG | c.6002C>G (p.Ala2001Gly)
| |
1 | g.152308884G= | CA2479949972 | FLG | c.6002C= (p.Ala2001=)
| |
1 | g.152308884G>T | CA342058835 | FLG | c.6002C>A (p.Ala2001Glu)
| |
1 | g.152308885C>A | CA342058837 | FLG | c.6001G>T (p.Ala2001Ser)
| |
1 | g.152308885C= | CA2479949973 | FLG | c.6001G= (p.Ala2001=)
| |
1 | g.152308885C>G | CA1105469 | FLG | c.6001G>C (p.Ala2001Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308885C>T | CA342058844 | FLG | c.6001G>A (p.Ala2001Thr)
| dbSNP |
1 | g.152308886A>C | CA342058848 | FLG | c.6000T>G (p.Ser2000Arg)
| |
1 | g.152308886A>G | CA420929098 | FLG | c.6000T>C (p.Ser2000=)
| |
1 | g.152308886A>T | CA342058851 | FLG | c.6000T>A (p.Ser2000Arg)
| |
1 | g.152308887C>A | CA342058858 | FLG | c.5999G>T (p.Ser2000Ile)
| |
1 | g.152308887C>G | CA342058862 | FLG | c.5999G>C (p.Ser2000Thr)
| |
1 | g.152308887C>T | CA342058864 | FLG | c.5999G>A (p.Ser2000Asn)
| gnomAD v4 |
1 | g.152308888T>A | CA342058870 | FLG | c.5998A>T (p.Ser2000Cys)
| |
1 | g.152308888T>C | CA342058873 | FLG | c.5998A>G (p.Ser2000Gly)
| |
1 | g.152308888T>G | CA342058876 | FLG | c.5998A>C (p.Ser2000Arg)
| |
1 | g.152308889T>A | CA420929110 | FLG | c.5997A>T (p.Ser1999=)
| |
1 | g.152308889T>C | CA420929112 | FLG | c.5997A>G (p.Ser1999=)
| |
1 | g.152308889T>G | CA420929114 | FLG | c.5997A>C (p.Ser1999=)
| gnomAD v4 |
1 | g.152308890G>A | CA342058882 | FLG | c.5996C>T (p.Ser1999Leu)
| |
1 | g.152308890G>C | CA1105470 | FLG | c.5996C>G (p.Ser1999Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308890G= | CA2479949974 | FLG | c.5996C= (p.Ser1999=)
| |
1 | g.152308890G>T | CA342058880 | FLG | c.5996C>A (p.Ser1999Ter)
| |
1 | g.152308891A>C | CA342058888 | FLG | c.5995T>G (p.Ser1999Ala)
| gnomAD v4 |
1 | g.152308891A>G | CA342058889 | FLG | c.5995T>C (p.Ser1999Pro)
| |
1 | g.152308891A>T | CA342058890 | FLG | c.5995T>A (p.Ser1999Thr)
| gnomAD v4 |
1 | g.152308892T>A | CA30551367 | FLG | c.5994A>T (p.Arg1998Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308892T>C | CA420929122 | FLG | c.5994A>G (p.Arg1998=)
| gnomAD v4 |
1 | g.152308892T>G | CA342058891 | FLG | c.5994A>C (p.Arg1998Ser)
| |
1 | g.152308892T= | CA1143970251 | FLG | c.5994A= (p.Arg1998=)
| |
1 | g.152308893C>A | CA342058896 | FLG | c.5993G>T (p.Arg1998Ile)
| dbSNP gnomAD v4 |
1 | g.152308893C= | CA2479949975 | FLG | c.5993G= (p.Arg1998=)
| |
1 | g.152308893C>G | CA342058899 | FLG | c.5993G>C (p.Arg1998Thr)
| gnomAD v4 |
1 | g.152308893C>T | CA342058902 | FLG | c.5993G>A (p.Arg1998Lys)
| dbSNP gnomAD v4 |
1 | g.152308894T>A | CA342058907 | FLG | c.5992A>T (p.Arg1998Ter)
| |
1 | g.152308894T>C | CA342058919 | FLG | c.5992A>G (p.Arg1998Gly)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308894T>G | CA420929124 | FLG | c.5992A>C (p.Arg1998=)
| dbSNP |
1 | g.152308894T= | CA2479949976 | FLG | c.5992A= (p.Arg1998=)
| |
1 | g.152308895T>A | CA420929126 | FLG | c.5991A>T (p.Ala1997=)
| gnomAD v4 |
1 | g.152308895T>C | CA420929128 | FLG | c.5991A>G (p.Ala1997=)
| |
1 | g.152308895T>G | CA420929130 | FLG | c.5991A>C (p.Ala1997=)
| |
1 | g.152308896G>A | CA342058922 | FLG | c.5990C>T (p.Ala1997Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308896G>C | CA342058924 | FLG | c.5990C>G (p.Ala1997Gly)
| |
1 | g.152308896G= | CA2479949977 | FLG | c.5990C= (p.Ala1997=)
| |
1 | g.152308896G>T | CA342058927 | FLG | c.5990C>A (p.Ala1997Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308897C>A | CA342058937 | FLG | c.5989G>T (p.Ala1997Ser)
| gnomAD v4 |
1 | g.152308897C= | CA1142159126 | FLG | c.5989G= (p.Ala1997=)
| |
1 | g.152308897C>G | CA342058932 | FLG | c.5989G>C (p.Ala1997Pro)
| |
1 | g.152308897C>T | CA1105471 | FLG | c.5989G>A (p.Ala1997Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308898del | CA2746124208 | FLG | c.5989del (p.Ala1997GlnfsTer?)
| |
1 | g.152308898C>A | CA342058940 | FLG | c.5988G>T (p.Gln1996His)
| |
1 | g.152308898C>G | CA342058941 | FLG | c.5988G>C (p.Gln1996His)
| |
1 | g.152308898C>T | CA420929138 | FLG | c.5988G>A (p.Gln1996=)
| gnomAD v4 |
1 | g.152308899T>A | CA342058942 | FLG | c.5987A>T (p.Gln1996Leu)
| |
1 | g.152308899T>C | CA1105472 | FLG | c.5987A>G (p.Gln1996Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308899T>G | CA342058945 | FLG | c.5987A>C (p.Gln1996Pro)
| |
1 | g.152308899T= | CA2479949978 | FLG | c.5987A= (p.Gln1996=)
| |
1 | g.152308900G>A | CA342058946 | FLG | c.5986C>T (p.Gln1996Ter)
| |
1 | g.152308900G>C | CA342058947 | FLG | c.5986C>G (p.Gln1996Glu)
| gnomAD v4 |
1 | g.152308900G>T | CA342058949 | FLG | c.5986C>A (p.Gln1996Lys)
| |
1 | g.152308901T>A | CA342058953 | FLG | c.5985A>T (p.Glu1995Asp)
| |
1 | g.152308901T>C | CA1105473 | FLG | c.5985A>G (p.Glu1995=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308901T>G | CA342058956 | FLG | c.5985A>C (p.Glu1995Asp)
| |
1 | g.152308901T= | CA2479949979 | FLG | c.5985A= (p.Glu1995=)
| |
1 | g.152308902T>A | CA342058973 | FLG | c.5984A>T (p.Glu1995Val)
| |
1 | g.152308902T>C | CA342058968 | FLG | c.5984A>G (p.Glu1995Gly)
| gnomAD v3 gnomAD v4 |
1 | g.152308902T>G | CA342058964 | FLG | c.5984A>C (p.Glu1995Ala)
| |
1 | g.152308903C>A | CA342058980 | FLG | c.5983G>T (p.Glu1995Ter)
| gnomAD v4 |
1 | g.152308903C= | CA2479949980 | FLG | c.5983G= (p.Glu1995=)
| |
1 | g.152308903C>G | CA342058987 | FLG | c.5983G>C (p.Glu1995Gln)
| COSMIC |
1 | g.152308903C>T | CA342058983 | FLG | c.5983G>A (p.Glu1995Lys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308904A= | CA1148334960 | FLG | c.5982T= (p.His1994=)
| |
1 | g.152308904A>C | CA342058992 | FLG | c.5982T>G (p.His1994Gln)
| gnomAD v4 |
1 | g.152308904A>G | CA1105474 | FLG | c.5982T>C (p.His1994=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308904A>T | CA342058996 | FLG | c.5982T>A (p.His1994Gln)
| |
1 | g.152308905T>A | CA342059003 | FLG | c.5981A>T (p.His1994Leu)
| |
1 | g.152308905T>C | CA1105475 | FLG | c.5981A>G (p.His1994Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308905T>G | CA342059014 | FLG | c.5981A>C (p.His1994Pro)
| |
1 | g.152308905T= | CA2479949981 | FLG | c.5981A= (p.His1994=)
| |
1 | g.152308906G>A | CA342059022 | FLG | c.5980C>T (p.His1994Tyr)
| |
1 | g.152308906G>C | CA342059025 | FLG | c.5980C>G (p.His1994Asp)
| |
1 | g.152308906G>T | CA342059040 | FLG | c.5980C>A (p.His1994Asn)
| gnomAD v4 COSMIC |
1 | g.152308908del | CA2647993624 | FLG | c.5980del (p.His1994MetfsTer?)
| gnomAD v4 |
1 | g.152308907G>A | CA420929151 | FLG | c.5979C>T (p.Ser1993=)
| gnomAD v4 |
1 | g.152308907G>C | CA420929153 | FLG | c.5979C>G (p.Ser1993=)
| gnomAD v4 |
1 | g.152308907G>T | CA420929152 | FLG | c.5979C>A (p.Ser1993=)
| |
1 | g.152308908G>A | CA342059043 | FLG | c.5978C>T (p.Ser1993Phe)
| gnomAD v4 |
1 | g.152308908G>C | CA342059048 | FLG | c.5978C>G (p.Ser1993Cys)
| |
1 | g.152308908G>T | CA342059051 | FLG | c.5978C>A (p.Ser1993Tyr)
| gnomAD v4 |
1 | g.152308909A>C | CA342059057 | FLG | c.5977T>G (p.Ser1993Ala)
| |
1 | g.152308909A>G | CA342059070 | FLG | c.5977T>C (p.Ser1993Pro)
| |
1 | g.152308909A>T | CA342059086 | FLG | c.5977T>A (p.Ser1993Thr)
| |
1 | g.152308910T>A | CA420929158 | FLG | c.5976A>T (p.Ser1992=)
| |
1 | g.152308910T>C | CA420929159 | FLG | c.5976A>G (p.Ser1992=)
| |
1 | g.152308910T>G | CA420929160 | FLG | c.5976A>C (p.Ser1992=)
| |
1 | g.152308911G>A | CA342059096 | FLG | c.5975C>T (p.Ser1992Leu)
| |
1 | g.152308911G>C | CA342059090 | FLG | c.5975C>G (p.Ser1992Ter)
| |
1 | g.152308911G>T | CA342059093 | FLG | c.5975C>A (p.Ser1992Ter)
| |
1 | g.152308912A= | CA2479949982 | FLG | c.5974T= (p.Ser1992=)
| |
1 | g.152308912A>C | CA342059100 | FLG | c.5974T>G (p.Ser1992Ala)
| |
1 | g.152308912A>G | CA342059106 | FLG | c.5974T>C (p.Ser1992Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308912A>T | CA342059110 | FLG | c.5974T>A (p.Ser1992Thr)
| dbSNP gnomAD v4 |
1 | g.152308913C>A | CA420929167 | FLG | c.5973G>T (p.Ala1991=)
| gnomAD v4 |
1 | g.152308913C= | CA1141630796 | FLG | c.5973G= (p.Ala1991=)
| |
1 | g.152308913C>G | CA420929169 | FLG | c.5973G>C (p.Ala1991=)
| dbSNP |
1 | g.152308913C>T | CA1105476 | FLG | c.5973G>A (p.Ala1991=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308914G>A | CA1105477 | FLG | c.5972C>T (p.Ala1991Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308914G>C | CA342059118 | FLG | c.5972C>G (p.Ala1991Gly)
| |
1 | g.152308914G= | CA1146471627 | FLG | c.5972C= (p.Ala1991=)
| |
1 | g.152308914G>T | CA342059124 | FLG | c.5972C>A (p.Ala1991Glu)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308915C>A | CA342059129 | FLG | c.5971G>T (p.Ala1991Ser)
| |
1 | g.152308915C= | CA2479949983 | FLG | c.5971G= (p.Ala1991=)
| |
1 | g.152308915C>G | CA1105478 | FLG | c.5971G>C (p.Ala1991Pro)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308915C>T | CA342059140 | FLG | c.5971G>A (p.Ala1991Thr)
| |
1 | g.152308916A>C | CA420929184 | FLG | c.5970T>G (p.Ala1990=)
| |
1 | g.152308916A>G | CA420929185 | FLG | c.5970T>C (p.Ala1990=)
| |
1 | g.152308916A>T | CA420929187 | FLG | c.5970T>A (p.Ala1990=)
| |
1 | g.152308917G>A | CA342059175 | FLG | c.5969C>T (p.Ala1990Val)
| |
1 | g.152308917G>C | CA342059172 | FLG | c.5969C>G (p.Ala1990Gly)
| |
1 | g.152308917G>T | CA342059144 | FLG | c.5969C>A (p.Ala1990Asp)
| |
1 | g.152308918C>A | CA342059179 | FLG | c.5968G>T (p.Ala1990Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308918C= | CA2479949984 | FLG | c.5968G= (p.Ala1990=)
| |
1 | g.152308918C>G | CA342059182 | FLG | c.5968G>C (p.Ala1990Pro)
| |
1 | g.152308918C>T | CA1105479 | FLG | c.5968G>A (p.Ala1990Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
1 | g.152308919C>A | CA342059190 | FLG | c.5967G>T (p.Gln1989His)
| |
1 | g.152308919C>G | CA342059193 | FLG | c.5967G>C (p.Gln1989His)
| |
1 | g.152308919C>T | CA420929192 | FLG | c.5967G>A (p.Gln1989=)
| |
1 | g.152308919_152309499del | CA2580611196 | FLG | c.5387_5967del (p.Gln1796ArgfsTer6)
| ClinVar |
1 | g.152308920T>A | CA342059198 | FLG | c.5966A>T (p.Gln1989Leu)
| |
1 | g.152308920T>C | CA342059209 | FLG | c.5966A>G (p.Gln1989Arg)
| |
1 | g.152308920T>G | CA342059212 | FLG | c.5966A>C (p.Gln1989Pro)
| |
1 | g.152308921G>A | CA342059214 | FLG | c.5965C>T (p.Gln1989Ter)
| |
1 | g.152308921G>C | CA30551414 | FLG | c.5965C>G (p.Gln1989Glu)
| dbSNP gnomAD v4 |
1 | g.152308921G= | CA2479949985 | FLG | c.5965C= (p.Gln1989=)
| |
1 | g.152308921G>T | CA342059218 | FLG | c.5965C>A (p.Gln1989Lys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308922T>A | CA420929199 | FLG | c.5964A>T (p.Gly1988=)
| |
1 | g.152308922T>C | CA420929200 | FLG | c.5964A>G (p.Gly1988=)
| |
1 | g.152308922T>G | CA420929201 | FLG | c.5964A>C (p.Gly1988=)
| |
1 | g.152308923C>A | CA342059224 | FLG | c.5963G>T (p.Gly1988Val)
| |
1 | g.152308923C= | CA2479949986 | FLG | c.5963G= (p.Gly1988=)
| |
1 | g.152308923C>G | CA342059220 | FLG | c.5963G>C (p.Gly1988Ala)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308923C>T | CA342059219 | FLG | c.5963G>A (p.Gly1988Glu)
| |
1 | g.152308924C>A | CA342059227 | FLG | c.5962G>T (p.Gly1988Ter)
| COSMIC |
1 | g.152308924C= | CA1147998794 | FLG | c.5962G= (p.Gly1988=)
| |
1 | g.152308924C>G | CA342059228 | FLG | c.5962G>C (p.Gly1988Arg)
| |
1 | g.152308924C>T | CA1105480 | FLG | c.5962G>A (p.Gly1988Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308925A>C | CA420929202 | FLG | c.5961T>G (p.Arg1987=)
| |
1 | g.152308925A>G | CA420929204 | FLG | c.5961T>C (p.Arg1987=)
| |
1 | g.152308925A>T | CA420929203 | FLG | c.5961T>A (p.Arg1987=)
| |
1 | g.152308926C>A | CA342059230 | FLG | c.5960G>T (p.Arg1987Leu)
| gnomAD v4 |
1 | g.152308926C= | CA1142382460 | FLG | c.5960G= (p.Arg1987=)
| |
1 | g.152308926C>G | CA1105482 | FLG | c.5960G>C (p.Arg1987Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308926C>T | CA1105481 | FLG | c.5960G>A (p.Arg1987His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308927G>A | CA342059247 | FLG | c.5959C>T (p.Arg1987Cys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308927G>C | CA342059251 | FLG | c.5959C>G (p.Arg1987Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308927G= | CA2479949987 | FLG | c.5959C= (p.Arg1987=)
| |
1 | g.152308927G>T | CA1105483 | FLG | c.5959C>A (p.Arg1987Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.152308928A= | CA2479949988 | FLG | c.5958T= (p.Ser1986=)
| |
1 | g.152308928A>C | CA420929207 | FLG | c.5958T>G (p.Ser1986=)
| |
1 | g.152308928A>G | CA420929208 | FLG | c.5958T>C (p.Ser1986=)
| |
1 | g.152308928A>T | CA1105484 | FLG | c.5958T>A (p.Ser1986=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308929G>A | CA342059263 | FLG | c.5957C>T (p.Ser1986Phe)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.152308929G>C | CA342059264 | FLG | c.5957C>G (p.Ser1986Cys)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.152308929G= | CA2479949989 | FLG | c.5957C= (p.Ser1986=)
| |
1 | g.152308929G>T | CA1105485 | FLG | c.5957C>A (p.Ser1986Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308930A= | CA1142306015 | FLG | c.5956T= (p.Ser1986=)
| |
1 | g.152308930A>C | CA342059298 | FLG | c.5956T>G (p.Ser1986Ala)
| gnomAD v4 |
1 | g.152308930A>G | CA342059294 | FLG | c.5956T>C (p.Ser1986Pro)
| |
1 | g.152308930A>T | CA1105486 | FLG | c.5956T>A (p.Ser1986Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308931G>A | CA1105487 | FLG | c.5955C>T (p.Ser1985=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308931G>C | CA420929213 | FLG | c.5955C>G (p.Ser1985=)
| gnomAD v4 |
1 | g.152308931G= | CA2479949990 | FLG | c.5955C= (p.Ser1985=)
| |
1 | g.152308931G>T | CA420929214 | FLG | c.5955C>A (p.Ser1985=)
| |
1 | g.152308932G>A | CA1105488 | FLG | c.5954C>T (p.Ser1985Phe)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.152308932G>C | CA342059308 | FLG | c.5954C>G (p.Ser1985Cys)
| |
1 | g.152308932G= | CA2479949991 | FLG | c.5954C= (p.Ser1985=)
| |
1 | g.152308932G>T | CA342059306 | FLG | c.5954C>A (p.Ser1985Tyr)
| gnomAD v4 |
1 | g.152308933A>C | CA342059315 | FLG | c.5953T>G (p.Ser1985Ala)
| |
1 | g.152308933A>G | CA342059318 | FLG | c.5953T>C (p.Ser1985Pro)
| |
1 | g.152308933A>T | CA342059334 | FLG | c.5953T>A (p.Ser1985Thr)
| |
1 | g.152308934A= | CA2479949992 | FLG | c.5952T= (p.Ser1984=)
| |
1 | g.152308934A>C | CA420929225 | FLG | c.5952T>G (p.Ser1984=)
| |
1 | g.152308934A>G | CA1105489 | FLG | c.5952T>C (p.Ser1984=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.152308934A>T | CA420929224 | FLG | c.5952T>A (p.Ser1984=)
| |
1 | g.152308935_152308936del | CA2647993627 | FLG | c.5951_5952del (p.Ser1984PhefsTer11)
| gnomAD v4 |