Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.39446706_39446725delCA2670372690KLBc.1980_1999del (p.Trp661ArgfsTer28)
c.1953_1972del (p.Trp652ArgfsTer28)
 gnomAD v4
4g.39446719T>ACA356656990KLBc.1993T>A (p.Ser665Thr)
c.1966T>A (p.Ser656Thr)
4g.39446719T>CCA356656992KLBc.1993T>C (p.Ser665Pro)
c.1966T>C (p.Ser656Pro)
4g.39446719T>GCA356656994KLBc.1993T>G (p.Ser665Ala)
c.1966T>G (p.Ser656Ala)
4g.39446720C>ACA356656997KLBc.1994C>A (p.Ser665Ter)
c.1967C>A (p.Ser656Ter)
 gnomAD v4
4g.39446720C>GCA356656999KLBc.1994C>G (p.Ser665Trp)
c.1967C>G (p.Ser656Trp)
4g.39446720C>TCA356656996KLBc.1994C>T (p.Ser665Leu)
c.1967C>T (p.Ser656Leu)
4g.39446721G>ACA439137893KLBc.1995G>A (p.Ser665=)
c.1968G>A (p.Ser656=)
 gnomAD v4 COSMIC
4g.39446721G>CCA439137895KLBc.1995G>C (p.Ser665=)
c.1968G>C (p.Ser656=)
4g.39446721G>TCA439137897KLBc.1995G>T (p.Ser665=)
c.1968G>T (p.Ser656=)
 gnomAD v4
4g.39446722A=CA1452209684KLBc.1996A= (p.Thr666=)
c.1969A= (p.Thr657=)
4g.39446722A>CCA356657000KLBc.1996A>C (p.Thr666Pro)
c.1969A>C (p.Thr657Pro)
4g.39446722A>GCA356657002KLBc.1996A>G (p.Thr666Ala)
c.1969A>G (p.Thr657Ala)
4g.39446722A>TCA356657004KLBc.1996A>T (p.Thr666Ser)
c.1969A>T (p.Thr657Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39446723C>ACA356657006KLBc.1997C>A (p.Thr666Lys)
c.1970C>A (p.Thr657Lys)
4g.39446723C>GCA356657007KLBc.1997C>G (p.Thr666Arg)
c.1970C>G (p.Thr657Arg)
4g.39446723C>TCA356657009KLBc.1997C>T (p.Thr666Met)
c.1970C>T (p.Thr657Met)
 gnomAD v4
4g.39446724G>ACA439137904KLBc.1998G>A (p.Thr666=)
c.1971G>A (p.Thr657=)
 gnomAD v4
4g.39446724G>CCA439137905KLBc.1998G>C (p.Thr666=)
c.1971G>C (p.Thr657=)
4g.39446724G>TCA439137906KLBc.1998G>T (p.Thr666=)
c.1971G>T (p.Thr657=)
4g.39446725G>ACA2893924KLBc.1999G>A (p.Ala667Thr)
c.1972G>A (p.Ala658Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446725G>CCA356657012KLBc.1999G>C (p.Ala667Pro)
c.1972G>C (p.Ala658Pro)
4g.39446725G=CA1452209685KLBc.1999G= (p.Ala667=)
c.1972G= (p.Ala658=)
4g.39446725G>TCA356657013KLBc.1999G>T (p.Ala667Ser)
c.1972G>T (p.Ala658Ser)
4g.39446725_39446726delinsGCCA1452209686KLBc.1999_2000delinsGC (p.Ala667=)
c.1972_1973delinsGC (p.Ala658=)
4g.39446726C>ACA356657016KLBc.2000C>A (p.Ala667Asp)
c.1973C>A (p.Ala658Asp)
 gnomAD v4
4g.39446726C>GCA356657017KLBc.2000C>G (p.Ala667Gly)
c.1973C>G (p.Ala658Gly)
4g.39446726C>TCA356657018KLBc.2000C>T (p.Ala667Val)
c.1973C>T (p.Ala658Val)
4g.39446727delCA2893925KLBc.2001del (p.Glu668ArgfsTer18)
c.1974del (p.Glu659ArgfsTer18)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446727C>ACA439137917KLBc.2001C>A (p.Ala667=)
c.1974C>A (p.Ala658=)
4g.39446727C=CA1452209687KLBc.2001C= (p.Ala667=)
c.1974C= (p.Ala658=)
4g.39446727C>GCA439137919KLBc.2001C>G (p.Ala667=)
c.1974C>G (p.Ala658=)
 dbSNP gnomAD v3 gnomAD v4
4g.39446727C>TCA439137920KLBc.2001C>T (p.Ala667=)
c.1974C>T (p.Ala658=)
4g.39446728G>ACA356657024KLBc.2002G>A (p.Glu668Lys)
c.1975G>A (p.Glu659Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.39446728G>CCA356657023KLBc.2002G>C (p.Glu668Gln)
c.1975G>C (p.Glu659Gln)
4g.39446728G=CA1452209688KLBc.2002G= (p.Glu668=)
c.1975G= (p.Glu659=)
4g.39446728G>TCA356657021KLBc.2002G>T (p.Glu668Ter)
c.1975G>T (p.Glu659Ter)
 gnomAD v4
4g.39446729A>CCA356657026KLBc.2003A>C (p.Glu668Ala)
c.1976A>C (p.Glu659Ala)
4g.39446729A>GCA356657027KLBc.2003A>G (p.Glu668Gly)
c.1976A>G (p.Glu659Gly)
4g.39446729A>TCA356657029KLBc.2003A>T (p.Glu668Val)
c.1976A>T (p.Glu659Val)
4g.39446730G>ACA439137925KLBc.2004G>A (p.Glu668=)
c.1977G>A (p.Glu659=)
 gnomAD v4
4g.39446730G>CCA356657030KLBc.2004G>C (p.Glu668Asp)
c.1977G>C (p.Glu659Asp)
4g.39446730G>TCA356657032KLBc.2004G>T (p.Glu668Asp)
c.1977G>T (p.Glu659Asp)
 gnomAD v4
4g.39446731G>ACA356657034KLBc.2005G>A (p.Ala669Thr)
c.1978G>A (p.Ala660Thr)
4g.39446731G>CCA356657036KLBc.2005G>C (p.Ala669Pro)
c.1978G>C (p.Ala660Pro)
4g.39446731G>TCA356657037KLBc.2005G>T (p.Ala669Ser)
c.1978G>T (p.Ala660Ser)
4g.39446732C>ACA356657039KLBc.2006C>A (p.Ala669Asp)
c.1979C>A (p.Ala660Asp)
 gnomAD v4
4g.39446732C>GCA356657041KLBc.2006C>G (p.Ala669Gly)
c.1979C>G (p.Ala660Gly)
4g.39446732C>TCA356657042KLBc.2006C>T (p.Ala669Val)
c.1979C>T (p.Ala660Val)
4g.39446733C>ACA439137933KLBc.2007C>A (p.Ala669=)
c.1980C>A (p.Ala660=)
4g.39446733C=CA1452209689KLBc.2007C= (p.Ala669=)
c.1980C= (p.Ala660=)
4g.39446733C>GCA439137934KLBc.2007C>G (p.Ala669=)
c.1980C>G (p.Ala660=)
4g.39446733C>TCA439137935KLBc.2007C>T (p.Ala669=)
c.1980C>T (p.Ala660=)
 dbSNP gnomAD v2 gnomAD v4
4g.39446734T>ACA356657044KLBc.2008T>A (p.Phe670Ile)
c.1981T>A (p.Phe661Ile)
4g.39446734T>CCA356657045KLBc.2008T>C (p.Phe670Leu)
c.1981T>C (p.Phe661Leu)
4g.39446734T>GCA356657046KLBc.2008T>G (p.Phe670Val)
c.1981T>G (p.Phe661Val)
4g.39446735T>ACA2893926KLBc.2009T>A (p.Phe670Tyr)
c.1982T>A (p.Phe661Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446735T>CCA356657048KLBc.2009T>C (p.Phe670Ser)
c.1982T>C (p.Phe661Ser)
4g.39446735T>GCA356657047KLBc.2009T>G (p.Phe670Cys)
c.1982T>G (p.Phe661Cys)
4g.39446735T=CA1452209690KLBc.2009T= (p.Phe670=)
c.1982T= (p.Phe661=)
4g.39446736C>ACA356657049KLBc.2010C>A (p.Phe670Leu)
c.1983C>A (p.Phe661Leu)
4g.39446736C>GCA356657050KLBc.2010C>G (p.Phe670Leu)
c.1983C>G (p.Phe661Leu)
 gnomAD v4
4g.39446736C>TCA439137955KLBc.2010C>T (p.Phe670=)
c.1983C>T (p.Phe661=)
4g.39446736_39446737delCA2670372693KLBc.2010_2011del (p.Phe670LeufsTer25)
c.1983_1984del (p.Phe661LeufsTer25)
 gnomAD v4
4g.39446737C>ACA356657051KLBc.2011C>A (p.Gln671Lys)
c.1984C>A (p.Gln662Lys)
 gnomAD v4
4g.39446737C>GCA356657055KLBc.2011C>G (p.Gln671Glu)
c.1984C>G (p.Gln662Glu)
4g.39446737C>TCA356657053KLBc.2011C>T (p.Gln671Ter)
c.1984C>T (p.Gln662Ter)
4g.39446738A>CCA356657057KLBc.2012A>C (p.Gln671Pro)
c.1985A>C (p.Gln662Pro)
4g.39446738A>GCA356657060KLBc.2012A>G (p.Gln671Arg)
c.1985A>G (p.Gln662Arg)
4g.39446738A>TCA356657058KLBc.2012A>T (p.Gln671Leu)
c.1985A>T (p.Gln662Leu)
4g.39446739G>ACA439137959KLBc.2013G>A (p.Gln671=)
c.1986G>A (p.Gln662=)
4g.39446739G>CCA356657062KLBc.2013G>C (p.Gln671His)
c.1986G>C (p.Gln662His)
4g.39446739G>TCA356657064KLBc.2013G>T (p.Gln671His)
c.1986G>T (p.Gln662His)
4g.39446740G>ACA356657065KLBc.2014G>A (p.Ala672Thr)
c.1987G>A (p.Ala663Thr)
 dbSNP
4g.39446740G>CCA356657066KLBc.2014G>C (p.Ala672Pro)
c.1987G>C (p.Ala663Pro)
4g.39446740G=CA1452209691KLBc.2014G= (p.Ala672=)
c.1987G= (p.Ala663=)
4g.39446740G>TCA356657067KLBc.2014G>T (p.Ala672Ser)
c.1987G>T (p.Ala663Ser)
4g.39446741C>ACA356657068KLBc.2015C>A (p.Ala672Asp)
c.1988C>A (p.Ala663Asp)
4g.39446741C>GCA356657070KLBc.2015C>G (p.Ala672Gly)
c.1988C>G (p.Ala663Gly)
4g.39446741C>TCA356657072KLBc.2015C>T (p.Ala672Val)
c.1988C>T (p.Ala663Val)
 gnomAD v4
4g.39446742C>ACA439137968KLBc.2016C>A (p.Ala672=)
c.1989C>A (p.Ala663=)
4g.39446742C>GCA439137971KLBc.2016C>G (p.Ala672=)
c.1989C>G (p.Ala663=)
 gnomAD v4
4g.39446742C>TCA439137973KLBc.2016C>T (p.Ala672=)
c.1989C>T (p.Ala663=)
 gnomAD v4
4g.39446743T>ACA95711752KLBc.2017T>A (p.Tyr673Asn)
c.1990T>A (p.Tyr664Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39446743T>CCA2893927KLBc.2017T>C (p.Tyr673His)
c.1990T>C (p.Tyr664His)
 dbSNP ExAC gnomAD v2
4g.39446743T>GCA356657074KLBc.2017T>G (p.Tyr673Asp)
c.1990T>G (p.Tyr664Asp)
4g.39446743T=CA1452209692KLBc.2017T= (p.Tyr673=)
c.1990T= (p.Tyr664=)
4g.39446744A=CA1452209693KLBc.2018A= (p.Tyr673=)
c.1991A= (p.Tyr664=)
4g.39446744A>CCA356657076KLBc.2018A>C (p.Tyr673Ser)
c.1991A>C (p.Tyr664Ser)
4g.39446744A>GCA356657078KLBc.2018A>G (p.Tyr673Cys)
c.1991A>G (p.Tyr664Cys)
 dbSNP
4g.39446744A>TCA356657079KLBc.2018A>T (p.Tyr673Phe)
c.1991A>T (p.Tyr664Phe)
4g.39446745C>ACA2893928KLBc.2019C>A (p.Tyr673Ter)
c.1992C>A (p.Tyr664Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446745C=CA1452209694KLBc.2019C= (p.Tyr673=)
c.1992C= (p.Tyr664=)
4g.39446745C>GCA356657081KLBc.2019C>G (p.Tyr673Ter)
c.1992C>G (p.Tyr664Ter)
4g.39446745C>TCA439137983KLBc.2019C>T (p.Tyr673=)
c.1992C>T (p.Tyr664=)
 gnomAD v4
4g.39446746G>ACA356657083KLBc.2020G>A (p.Ala674Thr)
c.1993G>A (p.Ala665Thr)
4g.39446746G>CCA356657084KLBc.2020G>C (p.Ala674Pro)
c.1993G>C (p.Ala665Pro)
4g.39446746G>TCA356657086KLBc.2020G>T (p.Ala674Ser)
c.1993G>T (p.Ala665Ser)
4g.39446747C>ACA356657088KLBc.2021C>A (p.Ala674Asp)
c.1994C>A (p.Ala665Asp)
4g.39446747C>GCA356657090KLBc.2021C>G (p.Ala674Gly)
c.1994C>G (p.Ala665Gly)
 gnomAD v4
4g.39446747C>TCA356657091KLBc.2021C>T (p.Ala674Val)
c.1994C>T (p.Ala665Val)
4g.39446748T>ACA439137989KLBc.2022T>A (p.Ala674=)
c.1995T>A (p.Ala665=)
4g.39446748T>CCA439137991KLBc.2022T>C (p.Ala674=)
c.1995T>C (p.Ala665=)
4g.39446748T>GCA439137995KLBc.2022T>G (p.Ala674=)
c.1995T>G (p.Ala665=)
4g.39446749G>ACA356657093KLBc.2023G>A (p.Gly675Arg)
c.1996G>A (p.Gly666Arg)
4g.39446749G>CCA356657095KLBc.2023G>C (p.Gly675Arg)
c.1996G>C (p.Gly666Arg)
4g.39446749G>TCA356657097KLBc.2023G>T (p.Gly675Trp)
c.1996G>T (p.Gly666Trp)
4g.39446750G>ACA356657098KLBc.2024G>A (p.Gly675Glu)
c.1997G>A (p.Gly666Glu)
 dbSNP gnomAD v2 gnomAD v4
4g.39446750G>CCA356657100KLBc.2024G>C (p.Gly675Ala)
c.1997G>C (p.Gly666Ala)
4g.39446750G=CA1452209695KLBc.2024G= (p.Gly675=)
c.1997G= (p.Gly666=)
4g.39446750G>TCA356657101KLBc.2024G>T (p.Gly675Val)
c.1997G>T (p.Gly666Val)
 gnomAD v4
4g.39446751G>ACA439138002KLBc.2025G>A (p.Gly675=)
c.1998G>A (p.Gly666=)
4g.39446751G>CCA439138003KLBc.2025G>C (p.Gly675=)
c.1998G>C (p.Gly666=)
4g.39446751G>TCA439138004KLBc.2025G>T (p.Gly675=)
c.1998G>T (p.Gly666=)
 gnomAD v4
4g.39446752C>ACA2893929KLBc.2026C>A (p.Leu676Met)
c.1999C>A (p.Leu667Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446752C=CA1452209696KLBc.2026C= (p.Leu676=)
c.1999C= (p.Leu667=)
4g.39446752C>GCA356657103KLBc.2026C>G (p.Leu676Val)
c.1999C>G (p.Leu667Val)
4g.39446752C>TCA439138006KLBc.2026C>T (p.Leu676=)
c.1999C>T (p.Leu667=)
 gnomAD v4
4g.39446753T>ACA356657106KLBc.2027T>A (p.Leu676Gln)
c.2000T>A (p.Leu667Gln)
 dbSNP
4g.39446753T>CCA356657107KLBc.2027T>C (p.Leu676Pro)
c.2000T>C (p.Leu667Pro)
4g.39446753T>GCA356657109KLBc.2027T>G (p.Leu676Arg)
c.2000T>G (p.Leu667Arg)
4g.39446753T=CA1452209697KLBc.2027T= (p.Leu676=)
c.2000T= (p.Leu667=)
4g.39446754G>ACA439138013KLBc.2028G>A (p.Leu676=)
c.2001G>A (p.Leu667=)
4g.39446754G>CCA439138015KLBc.2028G>C (p.Leu676=)
c.2001G>C (p.Leu667=)
 dbSNP gnomAD v4
4g.39446754G=CA1452209698KLBc.2028G= (p.Leu676=)
c.2001G= (p.Leu667=)
4g.39446754G>TCA439138016KLBc.2028G>T (p.Leu676=)
c.2001G>T (p.Leu667=)
4g.39446755T>ACA356657110KLBc.2029T>A (p.Cys677Ser)
c.2002T>A (p.Cys668Ser)
4g.39446755T>CCA356657112KLBc.2029T>C (p.Cys677Arg)
c.2002T>C (p.Cys668Arg)
4g.39446755T>GCA356657114KLBc.2029T>G (p.Cys677Gly)
c.2002T>G (p.Cys668Gly)
4g.39446756G>ACA356657118KLBc.2030G>A (p.Cys677Tyr)
c.2003G>A (p.Cys668Tyr)
4g.39446756G>CCA356657116KLBc.2030G>C (p.Cys677Ser)
c.2003G>C (p.Cys668Ser)
4g.39446756G>TCA356657117KLBc.2030G>T (p.Cys677Phe)
c.2003G>T (p.Cys668Phe)
4g.39446757C>ACA356657120KLBc.2031C>A (p.Cys677Ter)
c.2004C>A (p.Cys668Ter)
4g.39446757C>GCA356657122KLBc.2031C>G (p.Cys677Trp)
c.2004C>G (p.Cys668Trp)
4g.39446757C>TCA439138021KLBc.2031C>T (p.Cys677=)
c.2004C>T (p.Cys668=)
4g.39446758T>ACA356657123KLBc.2032T>A (p.Phe678Ile)
c.2005T>A (p.Phe669Ile)
4g.39446758T>CCA356657125KLBc.2032T>C (p.Phe678Leu)
c.2005T>C (p.Phe669Leu)
 gnomAD v4
4g.39446758T>GCA356657126KLBc.2032T>G (p.Phe678Val)
c.2005T>G (p.Phe669Val)
4g.39446758_39446791delinsTTCCAGGAGCTGGGGGACCTGGTGAAGCTCTGGACA1452209699KLBc.2032_2065delinsTTCCAGGAGCTGGGGGACCTGGTGAAGCTCTGGA (p.Phe678=)
c.2005_2038delinsTTCCAGGAGCTGGGGGACCTGGTGAAGCTCTGGA (p.Phe669=)
4g.39446759T>ACA356657128KLBc.2033T>A (p.Phe678Tyr)
c.2006T>A (p.Phe669Tyr)
 gnomAD v4
4g.39446759T>CCA356657131KLBc.2033T>C (p.Phe678Ser)
c.2006T>C (p.Phe669Ser)
4g.39446759T>GCA356657130KLBc.2033T>G (p.Phe678Cys)
c.2006T>G (p.Phe669Cys)
4g.39446761_39446793delCA551140287KLBc.2035_2067del (p.Gln679_Ile689del)
c.2008_2040del (p.Gln670_Ile680del)
 dbSNP gnomAD v2 gnomAD v4
4g.39446760C>ACA356657133KLBc.2034C>A (p.Phe678Leu)
c.2007C>A (p.Phe669Leu)
4g.39446760C>GCA356657135KLBc.2034C>G (p.Phe678Leu)
c.2007C>G (p.Phe669Leu)
4g.39446760C>TCA439138030KLBc.2034C>T (p.Phe678=)
c.2007C>T (p.Phe669=)
4g.39446761C>ACA356657137KLBc.2035C>A (p.Gln679Lys)
c.2008C>A (p.Gln670Lys)
4g.39446761C>GCA356657138KLBc.2035C>G (p.Gln679Glu)
c.2008C>G (p.Gln670Glu)
4g.39446761C>TCA356657139KLBc.2035C>T (p.Gln679Ter)
c.2008C>T (p.Gln670Ter)
 gnomAD v4
4g.39446762A=CA1452131037KLBc.2036A= (p.Gln679=)
c.2009A= (p.Gln670=)
4g.39446762A>CCA356657140KLBc.2036A>C (p.Gln679Pro)
c.2009A>C (p.Gln670Pro)
4g.39446762A>GCA356657142KLBc.2036A>G (p.Gln679Arg)
c.2009A>G (p.Gln670Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.39446762A>TCA356657144KLBc.2036A>T (p.Gln679Leu)
c.2009A>T (p.Gln670Leu)
4g.39446763G>ACA439138037KLBc.2037G>A (p.Gln679=)
c.2010G>A (p.Gln670=)
4g.39446763G>CCA356657146KLBc.2037G>C (p.Gln679His)
c.2010G>C (p.Gln670His)
4g.39446763G>TCA356657147KLBc.2037G>T (p.Gln679His)
c.2010G>T (p.Gln670His)
4g.39446764G>ACA356657151KLBc.2038G>A (p.Glu680Lys)
c.2011G>A (p.Glu671Lys)
 gnomAD v4
4g.39446764G>CCA356657150KLBc.2038G>C (p.Glu680Gln)
c.2011G>C (p.Glu671Gln)
4g.39446764G>TCA356657149KLBc.2038G>T (p.Glu680Ter)
c.2011G>T (p.Glu671Ter)
 gnomAD v4
4g.39446765A>CCA356657153KLBc.2039A>C (p.Glu680Ala)
c.2012A>C (p.Glu671Ala)
4g.39446765A>GCA356657154KLBc.2039A>G (p.Glu680Gly)
c.2012A>G (p.Glu671Gly)
4g.39446765A>TCA356657156KLBc.2039A>T (p.Glu680Val)
c.2012A>T (p.Glu671Val)
4g.39446766G>ACA439138046KLBc.2040G>A (p.Glu680=)
c.2013G>A (p.Glu671=)
 dbSNP gnomAD v3 gnomAD v4
4g.39446766G>CCA356657157KLBc.2040G>C (p.Glu680Asp)
c.2013G>C (p.Glu671Asp)
4g.39446766G=CA1452131038KLBc.2040G= (p.Glu680=)
c.2013G= (p.Glu671=)
4g.39446766G>TCA356657159KLBc.2040G>T (p.Glu680Asp)
c.2013G>T (p.Glu671Asp)
4g.39446767C>ACA356657161KLBc.2041C>A (p.Leu681Met)
c.2014C>A (p.Leu672Met)
 gnomAD v4
4g.39446767C>GCA356657162KLBc.2041C>G (p.Leu681Val)
c.2014C>G (p.Leu672Val)
4g.39446767C>TCA439138052KLBc.2041C>T (p.Leu681=)
c.2014C>T (p.Leu672=)
 gnomAD v4
4g.39446768T>ACA356657163KLBc.2042T>A (p.Leu681Gln)
c.2015T>A (p.Leu672Gln)
4g.39446768T>CCA356657165KLBc.2042T>C (p.Leu681Pro)
c.2015T>C (p.Leu672Pro)
4g.39446768T>GCA356657167KLBc.2042T>G (p.Leu681Arg)
c.2015T>G (p.Leu672Arg)
4g.39446769G>ACA439138056KLBc.2043G>A (p.Leu681=)
c.2016G>A (p.Leu672=)
4g.39446769G>CCA439138057KLBc.2043G>C (p.Leu681=)
c.2016G>C (p.Leu672=)
4g.39446769G>TCA439138058KLBc.2043G>T (p.Leu681=)
c.2016G>T (p.Leu672=)
4g.39446773delCA2670372694KLBc.2047del (p.Asp683ThrfsTer3)
c.2020del (p.Asp674ThrfsTer3)
 gnomAD v4
4g.39446770G>ACA356657169KLBc.2044G>A (p.Gly682Arg)
c.2017G>A (p.Gly673Arg)
4g.39446770G>CCA356657170KLBc.2044G>C (p.Gly682Arg)
c.2017G>C (p.Gly673Arg)
 dbSNP gnomAD v3 gnomAD v4
4g.39446770G=CA1452131039KLBc.2044G= (p.Gly682=)
c.2017G= (p.Gly673=)
4g.39446770G>TCA356657171KLBc.2044G>T (p.Gly682Trp)
c.2017G>T (p.Gly673Trp)
4g.39446771G>ACA356657177KLBc.2045G>A (p.Gly682Glu)
c.2018G>A (p.Gly673Glu)
4g.39446771G>CCA356657176KLBc.2045G>C (p.Gly682Ala)
c.2018G>C (p.Gly673Ala)
4g.39446771G>TCA356657174KLBc.2045G>T (p.Gly682Val)
c.2018G>T (p.Gly673Val)
4g.39446772G>ACA439138065KLBc.2046G>A (p.Gly682=)
c.2019G>A (p.Gly673=)
4g.39446772G>CCA439138066KLBc.2046G>C (p.Gly682=)
c.2019G>C (p.Gly673=)
4g.39446772G>TCA439138067KLBc.2046G>T (p.Gly682=)
c.2019G>T (p.Gly673=)
4g.39446773G>ACA356657179KLBc.2047G>A (p.Asp683Asn)
c.2020G>A (p.Asp674Asn)
 gnomAD v4
4g.39446773G>CCA2893930KLBc.2047G>C (p.Asp683His)
c.2020G>C (p.Asp674His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446773G=CA1452131040KLBc.2047G= (p.Asp683=)
c.2020G= (p.Asp674=)
4g.39446773G>TCA356657182KLBc.2047G>T (p.Asp683Tyr)
c.2020G>T (p.Asp674Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39446774A>CCA356657184KLBc.2048A>C (p.Asp683Ala)
c.2021A>C (p.Asp674Ala)
4g.39446774A>GCA356657186KLBc.2048A>G (p.Asp683Gly)
c.2021A>G (p.Asp674Gly)
4g.39446774A>TCA356657187KLBc.2048A>T (p.Asp683Val)
c.2021A>T (p.Asp674Val)
4g.39446775C>ACA356657189KLBc.2049C>A (p.Asp683Glu)
c.2022C>A (p.Asp674Glu)
4g.39446775C>GCA356657190KLBc.2049C>G (p.Asp683Glu)
c.2022C>G (p.Asp674Glu)
4g.39446775C>TCA439138072KLBc.2049C>T (p.Asp683=)
c.2022C>T (p.Asp674=)
4g.39446776C>ACA356657192KLBc.2050C>A (p.Leu684Met)
c.2023C>A (p.Leu675Met)
4g.39446776C>GCA356657194KLBc.2050C>G (p.Leu684Val)
c.2023C>G (p.Leu675Val)
4g.39446776C>TCA439138074KLBc.2050C>T (p.Leu684=)
c.2023C>T (p.Leu675=)
4g.39446777T>ACA356657196KLBc.2051T>A (p.Leu684Gln)
c.2024T>A (p.Leu675Gln)
4g.39446777T>CCA356657198KLBc.2051T>C (p.Leu684Pro)
c.2024T>C (p.Leu675Pro)
4g.39446777T>GCA356657199KLBc.2051T>G (p.Leu684Arg)
c.2024T>G (p.Leu675Arg)
 gnomAD v4
4g.39446778G>ACA439138078KLBc.2052G>A (p.Leu684=)
c.2025G>A (p.Leu675=)
4g.39446778G>CCA439138079KLBc.2052G>C (p.Leu684=)
c.2025G>C (p.Leu675=)
 gnomAD v4
4g.39446778G>TCA439138080KLBc.2052G>T (p.Leu684=)
c.2025G>T (p.Leu675=)
4g.39446779G>ACA356657203KLBc.2053G>A (p.Val685Met)
c.2026G>A (p.Val676Met)
 gnomAD v4
4g.39446779G>CCA356657205KLBc.2053G>C (p.Val685Leu)
c.2026G>C (p.Val676Leu)
4g.39446779G>TCA356657201KLBc.2053G>T (p.Val685Leu)
c.2026G>T (p.Val676Leu)
4g.39446780T>ACA356657206KLBc.2054T>A (p.Val685Glu)
c.2027T>A (p.Val676Glu)
4g.39446780T>CCA356657208KLBc.2054T>C (p.Val685Ala)
c.2027T>C (p.Val676Ala)
4g.39446780T>GCA356657210KLBc.2054T>G (p.Val685Gly)
c.2027T>G (p.Val676Gly)
4g.39446781G>ACA439138084KLBc.2055G>A (p.Val685=)
c.2028G>A (p.Val676=)
4g.39446781G>CCA439138085KLBc.2055G>C (p.Val685=)
c.2028G>C (p.Val676=)
4g.39446781G=CA1452131041KLBc.2055G= (p.Val685=)
c.2028G= (p.Val676=)
4g.39446781G>TCA439138087KLBc.2055G>T (p.Val685=)
c.2028G>T (p.Val676=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.39446782A>CCA356657212KLBc.2056A>C (p.Lys686Gln)
c.2029A>C (p.Lys677Gln)
4g.39446782A>GCA356657213KLBc.2056A>G (p.Lys686Glu)
c.2029A>G (p.Lys677Glu)
4g.39446782A>TCA356657214KLBc.2056A>T (p.Lys686Ter)
c.2029A>T (p.Lys677Ter)
4g.39446783A>CCA356657217KLBc.2057A>C (p.Lys686Thr)
c.2030A>C (p.Lys677Thr)
4g.39446783A>GCA356657218KLBc.2057A>G (p.Lys686Arg)
c.2030A>G (p.Lys677Arg)
4g.39446783A>TCA356657219KLBc.2057A>T (p.Lys686Met)
c.2030A>T (p.Lys677Met)
4g.39446784G>ACA439138094KLBc.2058G>A (p.Lys686=)
c.2031G>A (p.Lys677=)
 gnomAD v4
4g.39446784G>CCA356657221KLBc.2058G>C (p.Lys686Asn)
c.2031G>C (p.Lys677Asn)
4g.39446784G>TCA356657223KLBc.2058G>T (p.Lys686Asn)
c.2031G>T (p.Lys677Asn)
 gnomAD v4
4g.39446785C>ACA356657228KLBc.2059C>A (p.Leu687Ile)
c.2032C>A (p.Leu678Ile)
 gnomAD v4
4g.39446785C>GCA356657226KLBc.2059C>G (p.Leu687Val)
c.2032C>G (p.Leu678Val)
4g.39446785C>TCA356657225KLBc.2059C>T (p.Leu687Phe)
c.2032C>T (p.Leu678Phe)
4g.39446785dupCA2839746504KLBc.2059dup (p.Leu687ProfsTer9)
c.2032dup (p.Leu678ProfsTer9)
4g.39446786T>ACA356657230KLBc.2060T>A (p.Leu687His)
c.2033T>A (p.Leu678His)
4g.39446786T>CCA356657231KLBc.2060T>C (p.Leu687Pro)
c.2033T>C (p.Leu678Pro)
4g.39446786T>GCA356657233KLBc.2060T>G (p.Leu687Arg)
c.2033T>G (p.Leu678Arg)
4g.39446787C>ACA439138105KLBc.2061C>A (p.Leu687=)
c.2034C>A (p.Leu678=)
4g.39446787C=CA1452131042KLBc.2061C= (p.Leu687=)
c.2034C= (p.Leu678=)
4g.39446787C>GCA439138102KLBc.2061C>G (p.Leu687=)
c.2034C>G (p.Leu678=)
4g.39446787C>TCA439138100KLBc.2061C>T (p.Leu687=)
c.2034C>T (p.Leu678=)
 dbSNP gnomAD v2
4g.39446787dupCA2761121601KLBc.2061dup (p.Trp688LeufsTer8)
c.2034dup (p.Trp679LeufsTer8)
4g.39446788T>ACA356657235KLBc.2062T>A (p.Trp688Arg)
c.2035T>A (p.Trp679Arg)
4g.39446788T>CCA356657236KLBc.2062T>C (p.Trp688Arg)
c.2035T>C (p.Trp679Arg)
4g.39446788T>GCA356657238KLBc.2062T>G (p.Trp688Gly)
c.2035T>G (p.Trp679Gly)
4g.39446789G>ACA356657240KLBc.2063G>A (p.Trp688Ter)
c.2036G>A (p.Trp679Ter)
 dbSNP
4g.39446789G>CCA356657241KLBc.2063G>C (p.Trp688Ser)
c.2036G>C (p.Trp679Ser)
4g.39446789G=CA1452131043KLBc.2063G= (p.Trp688=)
c.2036G= (p.Trp679=)
4g.39446789G>TCA356657243KLBc.2063G>T (p.Trp688Leu)
c.2036G>T (p.Trp679Leu)
4g.39446790G>ACA356657245KLBc.2064G>A (p.Trp688Ter)
c.2037G>A (p.Trp679Ter)
4g.39446790G>CCA356657246KLBc.2064G>C (p.Trp688Cys)
c.2037G>C (p.Trp679Cys)
4g.39446790G>TCA356657248KLBc.2064G>T (p.Trp688Cys)
c.2037G>T (p.Trp679Cys)
4g.39446791A=CA1452131044KLBc.2065A= (p.Ile689=)
c.2038A= (p.Ile680=)
4g.39446791A>CCA356657253KLBc.2065A>C (p.Ile689Leu)
c.2038A>C (p.Ile680Leu)
4g.39446791A>GCA2893931KLBc.2065A>G (p.Ile689Val)
c.2038A>G (p.Ile680Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446791A>TCA356657250KLBc.2065A>T (p.Ile689Phe)
c.2038A>T (p.Ile680Phe)
4g.39446792T>ACA356657254KLBc.2066T>A (p.Ile689Asn)
c.2039T>A (p.Ile680Asn)
4g.39446792T>CCA356657256KLBc.2066T>C (p.Ile689Thr)
c.2039T>C (p.Ile680Thr)
4g.39446792T>GCA356657255KLBc.2066T>G (p.Ile689Ser)
c.2039T>G (p.Ile680Ser)
4g.39446793C>ACA439138111KLBc.2067C>A (p.Ile689=)
c.2040C>A (p.Ile680=)
4g.39446793C>GCA356657257KLBc.2067C>G (p.Ile689Met)
c.2040C>G (p.Ile680Met)
4g.39446793C>TCA439138112KLBc.2067C>T (p.Ile689=)
c.2040C>T (p.Ile680=)
4g.39446794A>CCA356657259KLBc.2068A>C (p.Thr690Pro)
c.2041A>C (p.Thr681Pro)
4g.39446794A>GCA356657261KLBc.2068A>G (p.Thr690Ala)
c.2041A>G (p.Thr681Ala)
4g.39446794A>TCA356657262KLBc.2068A>T (p.Thr690Ser)
c.2041A>T (p.Thr681Ser)
4g.39446795C>ACA356657264KLBc.2069C>A (p.Thr690Asn)
c.2042C>A (p.Thr681Asn)
4g.39446795C>GCA356657266KLBc.2069C>G (p.Thr690Ser)
c.2042C>G (p.Thr681Ser)
4g.39446795C>TCA356657268KLBc.2069C>T (p.Thr690Ile)
c.2042C>T (p.Thr681Ile)
4g.39446796C>ACA439138115KLBc.2070C>A (p.Thr690=)
c.2043C>A (p.Thr681=)
 gnomAD v4
4g.39446796C>GCA439138116KLBc.2070C>G (p.Thr690=)
c.2043C>G (p.Thr681=)
4g.39446796C>TCA439138117KLBc.2070C>T (p.Thr690=)
c.2043C>T (p.Thr681=)
4g.39446797A>CCA356657270KLBc.2071A>C (p.Ile691Leu)
c.2044A>C (p.Ile682Leu)
4g.39446797A>GCA356657273KLBc.2071A>G (p.Ile691Val)
c.2044A>G (p.Ile682Val)
4g.39446797A>TCA356657271KLBc.2071A>T (p.Ile691Phe)
c.2044A>T (p.Ile682Phe)
4g.39446798T>ACA356657275KLBc.2072T>A (p.Ile691Asn)
c.2045T>A (p.Ile682Asn)
4g.39446798T>CCA356657276KLBc.2072T>C (p.Ile691Thr)
c.2045T>C (p.Ile682Thr)
 dbSNP
4g.39446798T>GCA356657277KLBc.2072T>G (p.Ile691Ser)
c.2045T>G (p.Ile682Ser)
4g.39446798T=CA1452131045KLBc.2072T= (p.Ile691=)
c.2045T= (p.Ile682=)
4g.39446799C>ACA439138119KLBc.2073C>A (p.Ile691=)
c.2046C>A (p.Ile682=)
4g.39446799C=CA1452131046KLBc.2073C= (p.Ile691=)
c.2046C= (p.Ile682=)
4g.39446799C>GCA2893932KLBc.2073C>G (p.Ile691Met)
c.2046C>G (p.Ile682Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446799C>TCA439138121KLBc.2073C>T (p.Ile691=)
c.2046C>T (p.Ile682=)
4g.39446800A>CCA356657280KLBc.2074A>C (p.Asn692His)
c.2047A>C (p.Asn683His)
4g.39446800A>GCA356657278KLBc.2074A>G (p.Asn692Asp)
c.2047A>G (p.Asn683Asp)
4g.39446800A>TCA356657279KLBc.2074A>T (p.Asn692Tyr)
c.2047A>T (p.Asn683Tyr)
4g.39446801delCA2578069608KLBc.2075del (p.Asn692ThrfsTer6)
c.2048del (p.Asn683ThrfsTer6)
4g.39446801A>CCA356657281KLBc.2075A>C (p.Asn692Thr)
c.2048A>C (p.Asn683Thr)
4g.39446801A>GCA356657282KLBc.2075A>G (p.Asn692Ser)
c.2048A>G (p.Asn683Ser)
4g.39446801A>TCA356657283KLBc.2075A>T (p.Asn692Ile)
c.2048A>T (p.Asn683Ile)
4g.39446802C>ACA356657284KLBc.2076C>A (p.Asn692Lys)
c.2049C>A (p.Asn683Lys)
 gnomAD v4
4g.39446802C=CA1452131047KLBc.2076C= (p.Asn692=)
c.2049C= (p.Asn683=)
4g.39446802C>GCA356657285KLBc.2076C>G (p.Asn692Lys)
c.2049C>G (p.Asn683Lys)
4g.39446802C>TCA2893933KLBc.2076C>T (p.Asn692=)
c.2049C>T (p.Asn683=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446803G>ACA356657286KLBc.2077G>A (p.Glu693Lys)
c.2050G>A (p.Glu684Lys)
 dbSNP gnomAD v3 gnomAD v4
4g.39446803G>CCA356657287KLBc.2077G>C (p.Glu693Gln)
c.2050G>C (p.Glu684Gln)
 gnomAD v4
4g.39446803G=CA1452131048KLBc.2077G= (p.Glu693=)
c.2050G= (p.Glu684=)
4g.39446803G>TCA356657288KLBc.2077G>T (p.Glu693Ter)
c.2050G>T (p.Glu684Ter)
 gnomAD v4
4g.39446804A>CCA356657289KLBc.2078A>C (p.Glu693Ala)
c.2051A>C (p.Glu684Ala)
4g.39446804A>GCA356657290KLBc.2078A>G (p.Glu693Gly)
c.2051A>G (p.Glu684Gly)
4g.39446804A>TCA356657291KLBc.2078A>T (p.Glu693Val)
c.2051A>T (p.Glu684Val)
4g.39446805G>ACA2893934KLBc.2079G>A (p.Glu693=)
c.2052G>A (p.Glu684=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446805G>CCA356657293KLBc.2079G>C (p.Glu693Asp)
c.2052G>C (p.Glu684Asp)
4g.39446805G=CA1452131049KLBc.2079G= (p.Glu693=)
c.2052G= (p.Glu684=)
4g.39446805G>TCA356657292KLBc.2079G>T (p.Glu693Asp)
c.2052G>T (p.Glu684Asp)
4g.39446806C>ACA356657294KLBc.2080C>A (p.Pro694Thr)
c.2053C>A (p.Pro685Thr)
4g.39446806C>GCA356657295KLBc.2080C>G (p.Pro694Ala)
c.2053C>G (p.Pro685Ala)
4g.39446806C>TCA356657296KLBc.2080C>T (p.Pro694Ser)
c.2053C>T (p.Pro685Ser)
 gnomAD v4
4g.39446807C>ACA356657297KLBc.2081C>A (p.Pro694His)
c.2054C>A (p.Pro685His)
4g.39446807C>GCA356657298KLBc.2081C>G (p.Pro694Arg)
c.2054C>G (p.Pro685Arg)
4g.39446807C>TCA356657299KLBc.2081C>T (p.Pro694Leu)
c.2054C>T (p.Pro685Leu)
 gnomAD v4
4g.39446808T>ACA439138134KLBc.2082T>A (p.Pro694=)
c.2055T>A (p.Pro685=)
4g.39446808T>CCA439138135KLBc.2082T>C (p.Pro694=)
c.2055T>C (p.Pro685=)
4g.39446808T>GCA439138137KLBc.2082T>G (p.Pro694=)
c.2055T>G (p.Pro685=)
4g.39446809A>CCA356657300KLBc.2083A>C (p.Asn695His)
c.2056A>C (p.Asn686His)
4g.39446809A>GCA356657301KLBc.2083A>G (p.Asn695Asp)
c.2056A>G (p.Asn686Asp)
4g.39446809A>TCA356657302KLBc.2083A>T (p.Asn695Tyr)
c.2056A>T (p.Asn686Tyr)
4g.39446810dupCA2838765999KLBc.2084dup (p.Asn695LysfsTer5)
c.2057dup (p.Asn686LysfsTer5)
4g.39446810A>CCA356657303KLBc.2084A>C (p.Asn695Thr)
c.2057A>C (p.Asn686Thr)
4g.39446810A>GCA356657304KLBc.2084A>G (p.Asn695Ser)
c.2057A>G (p.Asn686Ser)
4g.39446810A>TCA356657305KLBc.2084A>T (p.Asn695Ile)
c.2057A>T (p.Asn686Ile)
4g.39446811C>ACA356657307KLBc.2085C>A (p.Asn695Lys)
c.2058C>A (p.Asn686Lys)
4g.39446811C=CA1452131050KLBc.2085C= (p.Asn695=)
c.2058C= (p.Asn686=)
4g.39446811C>GCA356657306KLBc.2085C>G (p.Asn695Lys)
c.2058C>G (p.Asn686Lys)
4g.39446811C>TCA2893935KLBc.2085C>T (p.Asn695=)
c.2058C>T (p.Asn686=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.39446812C>ACA439138143KLBc.2086C>A (p.Arg696=)
c.2059C>A (p.Arg687=)
 gnomAD v4
4g.39446812C>GCA356657308KLBc.2086C>G (p.Arg696Gly)
c.2059C>G (p.Arg687Gly)
4g.39446812C>TCA356657309KLBc.2086C>T (p.Arg696Trp)
c.2059C>T (p.Arg687Trp)
 gnomAD v4
4g.39446813G>ACA356657310KLBc.2087G>A (p.Arg696Gln)
c.2060G>A (p.Arg687Gln)
 gnomAD v4
4g.39446813G>CCA356657311KLBc.2087G>C (p.Arg696Pro)
c.2060G>C (p.Arg687Pro)
4g.39446813G>TCA356657312KLBc.2087G>T (p.Arg696Leu)
c.2060G>T (p.Arg687Leu)
 gnomAD v4
4g.39446814G>ACA2893936KLBc.2088G>A (p.Arg696=)
c.2061G>A (p.Arg687=)
 dbSNP ExAC gnomAD v2 gnomAD v4
4g.39446814G>CCA439138150KLBc.2088G>C (p.Arg696=)
c.2061G>C (p.Arg687=)
 gnomAD v4
4g.39446814G=CA1452131051KLBc.2088G= (p.Arg696=)
c.2061G= (p.Arg687=)
4g.39446814G>TCA439138149KLBc.2088G>T (p.Arg696=)
c.2061G>T (p.Arg687=)
 gnomAD v4
4g.39446815C>ACA356657313KLBc.2089C>A (p.Leu697Ile)
c.2062C>A (p.Leu688Ile)
4g.39446815C>GCA356657314KLBc.2089C>G (p.Leu697Val)
c.2062C>G (p.Leu688Val)
 gnomAD v4
4g.39446815C>TCA439138153KLBc.2089C>T (p.Leu697=)
c.2062C>T (p.Leu688=)
4g.39446816delCA2839342381KLBc.2090del (p.Leu697GlnfsTer?)
c.2063del (p.Leu688GlnfsTer?)
4g.39446816T>ACA356657315KLBc.2090T>A (p.Leu697Gln)
c.2063T>A (p.Leu688Gln)
4g.39446816T>CCA356657316KLBc.2090T>C (p.Leu697Pro)
c.2063T>C (p.Leu688Pro)
4g.39446816T>GCA356657317KLBc.2090T>G (p.Leu697Arg)
c.2063T>G (p.Leu688Arg)
4g.39446817A>CCA439138154KLBc.2091A>C (p.Leu697=)
c.2064A>C (p.Leu688=)
4g.39446817A>GCA439138155KLBc.2091A>G (p.Leu697=)
c.2064A>G (p.Leu688=)
4g.39446817A>TCA439138156KLBc.2091A>T (p.Leu697=)
c.2064A>T (p.Leu688=)
4g.39446818A>CCA356657320KLBc.2092A>C (p.Ser698Arg)
c.2065A>C (p.Ser689Arg)
4g.39446818A>GCA356657319KLBc.2092A>G (p.Ser698Gly)
c.2065A>G (p.Ser689Gly)
4g.39446818A>TCA356657318KLBc.2092A>T (p.Ser698Cys)
c.2065A>T (p.Ser689Cys)
4g.39446819G>ACA356657321KLBc.2093G>A (p.Ser698Asn)
c.2066G>A (p.Ser689Asn)
 gnomAD v4
4g.39446819G>CCA2893937KLBc.2093G>C (p.Ser698Thr)
c.2066G>C (p.Ser689Thr)
 dbSNP ExAC gnomAD v3 gnomAD v4
4g.39446819G=CA1452131052KLBc.2093G= (p.Ser698=)
c.2066G= (p.Ser689=)
4g.39446819G>TCA356657322KLBc.2093G>T (p.Ser698Ile)
c.2066G>T (p.Ser689Ile)

Number of alleles fetched