Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.39446727del | CA2893925 | KLB | c.2001del (p.Glu668ArgfsTer18) c.1974del (p.Glu659ArgfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446727C>A | CA439137917 | KLB | c.2001C>A (p.Ala667=) c.1974C>A (p.Ala658=) | |
4 | g.39446727C= | CA1452209687 | KLB | c.2001C= (p.Ala667=) c.1974C= (p.Ala658=) | |
4 | g.39446727C>G | CA439137919 | KLB | c.2001C>G (p.Ala667=) c.1974C>G (p.Ala658=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446727C>T | CA439137920 | KLB | c.2001C>T (p.Ala667=) c.1974C>T (p.Ala658=) | |
4 | g.39446728G>A | CA356657024 | KLB | c.2002G>A (p.Glu668Lys) c.1975G>A (p.Glu659Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446728G>C | CA356657023 | KLB | c.2002G>C (p.Glu668Gln) c.1975G>C (p.Glu659Gln) | |
4 | g.39446728G= | CA1452209688 | KLB | c.2002G= (p.Glu668=) c.1975G= (p.Glu659=) | |
4 | g.39446728G>T | CA356657021 | KLB | c.2002G>T (p.Glu668Ter) c.1975G>T (p.Glu659Ter) | gnomAD v4 |
4 | g.39446729A>C | CA356657026 | KLB | c.2003A>C (p.Glu668Ala) c.1976A>C (p.Glu659Ala) | |
4 | g.39446729A>G | CA356657027 | KLB | c.2003A>G (p.Glu668Gly) c.1976A>G (p.Glu659Gly) | |
4 | g.39446729A>T | CA356657029 | KLB | c.2003A>T (p.Glu668Val) c.1976A>T (p.Glu659Val) | |
4 | g.39446730G>A | CA439137925 | KLB | c.2004G>A (p.Glu668=) c.1977G>A (p.Glu659=) | gnomAD v4 |
4 | g.39446730G>C | CA356657030 | KLB | c.2004G>C (p.Glu668Asp) c.1977G>C (p.Glu659Asp) | |
4 | g.39446730G>T | CA356657032 | KLB | c.2004G>T (p.Glu668Asp) c.1977G>T (p.Glu659Asp) | gnomAD v4 |
4 | g.39446731G>A | CA356657034 | KLB | c.2005G>A (p.Ala669Thr) c.1978G>A (p.Ala660Thr) | |
4 | g.39446731G>C | CA356657036 | KLB | c.2005G>C (p.Ala669Pro) c.1978G>C (p.Ala660Pro) | |
4 | g.39446731G>T | CA356657037 | KLB | c.2005G>T (p.Ala669Ser) c.1978G>T (p.Ala660Ser) | |
4 | g.39446732C>A | CA356657039 | KLB | c.2006C>A (p.Ala669Asp) c.1979C>A (p.Ala660Asp) | gnomAD v4 |
4 | g.39446732C>G | CA356657041 | KLB | c.2006C>G (p.Ala669Gly) c.1979C>G (p.Ala660Gly) | |
4 | g.39446732C>T | CA356657042 | KLB | c.2006C>T (p.Ala669Val) c.1979C>T (p.Ala660Val) | |
4 | g.39446733C>A | CA439137933 | KLB | c.2007C>A (p.Ala669=) c.1980C>A (p.Ala660=) | |
4 | g.39446733C= | CA1452209689 | KLB | c.2007C= (p.Ala669=) c.1980C= (p.Ala660=) | |
4 | g.39446733C>G | CA439137934 | KLB | c.2007C>G (p.Ala669=) c.1980C>G (p.Ala660=) | |
4 | g.39446733C>T | CA439137935 | KLB | c.2007C>T (p.Ala669=) c.1980C>T (p.Ala660=) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.39446734T>A | CA356657044 | KLB | c.2008T>A (p.Phe670Ile) c.1981T>A (p.Phe661Ile) | |
4 | g.39446734T>C | CA356657045 | KLB | c.2008T>C (p.Phe670Leu) c.1981T>C (p.Phe661Leu) | |
4 | g.39446734T>G | CA356657046 | KLB | c.2008T>G (p.Phe670Val) c.1981T>G (p.Phe661Val) | |
4 | g.39446735T>A | CA2893926 | KLB | c.2009T>A (p.Phe670Tyr) c.1982T>A (p.Phe661Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446735T>C | CA356657048 | KLB | c.2009T>C (p.Phe670Ser) c.1982T>C (p.Phe661Ser) | |
4 | g.39446735T>G | CA356657047 | KLB | c.2009T>G (p.Phe670Cys) c.1982T>G (p.Phe661Cys) | |
4 | g.39446735T= | CA1452209690 | KLB | c.2009T= (p.Phe670=) c.1982T= (p.Phe661=) | |
4 | g.39446736C>A | CA356657049 | KLB | c.2010C>A (p.Phe670Leu) c.1983C>A (p.Phe661Leu) | |
4 | g.39446736C>G | CA356657050 | KLB | c.2010C>G (p.Phe670Leu) c.1983C>G (p.Phe661Leu) | gnomAD v4 |
4 | g.39446736C>T | CA439137955 | KLB | c.2010C>T (p.Phe670=) c.1983C>T (p.Phe661=) | |
4 | g.39446736_39446737del | CA2670372693 | KLB | c.2010_2011del (p.Phe670LeufsTer25) c.1983_1984del (p.Phe661LeufsTer25) | gnomAD v4 |
4 | g.39446737C>A | CA356657051 | KLB | c.2011C>A (p.Gln671Lys) c.1984C>A (p.Gln662Lys) | gnomAD v4 |
4 | g.39446737C>G | CA356657055 | KLB | c.2011C>G (p.Gln671Glu) c.1984C>G (p.Gln662Glu) | |
4 | g.39446737C>T | CA356657053 | KLB | c.2011C>T (p.Gln671Ter) c.1984C>T (p.Gln662Ter) | |
4 | g.39446738A>C | CA356657057 | KLB | c.2012A>C (p.Gln671Pro) c.1985A>C (p.Gln662Pro) | |
4 | g.39446738A>G | CA356657060 | KLB | c.2012A>G (p.Gln671Arg) c.1985A>G (p.Gln662Arg) | |
4 | g.39446738A>T | CA356657058 | KLB | c.2012A>T (p.Gln671Leu) c.1985A>T (p.Gln662Leu) | |
4 | g.39446739G>A | CA439137959 | KLB | c.2013G>A (p.Gln671=) c.1986G>A (p.Gln662=) | |
4 | g.39446739G>C | CA356657062 | KLB | c.2013G>C (p.Gln671His) c.1986G>C (p.Gln662His) | |
4 | g.39446739G>T | CA356657064 | KLB | c.2013G>T (p.Gln671His) c.1986G>T (p.Gln662His) | |
4 | g.39446740G>A | CA356657065 | KLB | c.2014G>A (p.Ala672Thr) c.1987G>A (p.Ala663Thr) | dbSNP |
4 | g.39446740G>C | CA356657066 | KLB | c.2014G>C (p.Ala672Pro) c.1987G>C (p.Ala663Pro) | |
4 | g.39446740G= | CA1452209691 | KLB | c.2014G= (p.Ala672=) c.1987G= (p.Ala663=) | |
4 | g.39446740G>T | CA356657067 | KLB | c.2014G>T (p.Ala672Ser) c.1987G>T (p.Ala663Ser) | |
4 | g.39446741C>A | CA356657068 | KLB | c.2015C>A (p.Ala672Asp) c.1988C>A (p.Ala663Asp) | |
4 | g.39446741C>G | CA356657070 | KLB | c.2015C>G (p.Ala672Gly) c.1988C>G (p.Ala663Gly) | |
4 | g.39446741C>T | CA356657072 | KLB | c.2015C>T (p.Ala672Val) c.1988C>T (p.Ala663Val) | gnomAD v4 |
4 | g.39446742C>A | CA439137968 | KLB | c.2016C>A (p.Ala672=) c.1989C>A (p.Ala663=) | |
4 | g.39446742C>G | CA439137971 | KLB | c.2016C>G (p.Ala672=) c.1989C>G (p.Ala663=) | gnomAD v4 |
4 | g.39446742C>T | CA439137973 | KLB | c.2016C>T (p.Ala672=) c.1989C>T (p.Ala663=) | gnomAD v4 |
4 | g.39446743T>A | CA95711752 | KLB | c.2017T>A (p.Tyr673Asn) c.1990T>A (p.Tyr664Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446743T>C | CA2893927 | KLB | c.2017T>C (p.Tyr673His) c.1990T>C (p.Tyr664His) | dbSNP ExAC gnomAD v2 |
4 | g.39446743T>G | CA356657074 | KLB | c.2017T>G (p.Tyr673Asp) c.1990T>G (p.Tyr664Asp) | |
4 | g.39446743T= | CA1452209692 | KLB | c.2017T= (p.Tyr673=) c.1990T= (p.Tyr664=) | |
4 | g.39446744A= | CA1452209693 | KLB | c.2018A= (p.Tyr673=) c.1991A= (p.Tyr664=) | |
4 | g.39446744A>C | CA356657076 | KLB | c.2018A>C (p.Tyr673Ser) c.1991A>C (p.Tyr664Ser) | |
4 | g.39446744A>G | CA356657078 | KLB | c.2018A>G (p.Tyr673Cys) c.1991A>G (p.Tyr664Cys) | dbSNP |
4 | g.39446744A>T | CA356657079 | KLB | c.2018A>T (p.Tyr673Phe) c.1991A>T (p.Tyr664Phe) | |
4 | g.39446745C>A | CA2893928 | KLB | c.2019C>A (p.Tyr673Ter) c.1992C>A (p.Tyr664Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446745C= | CA1452209694 | KLB | c.2019C= (p.Tyr673=) c.1992C= (p.Tyr664=) | |
4 | g.39446745C>G | CA356657081 | KLB | c.2019C>G (p.Tyr673Ter) c.1992C>G (p.Tyr664Ter) | |
4 | g.39446745C>T | CA439137983 | KLB | c.2019C>T (p.Tyr673=) c.1992C>T (p.Tyr664=) | gnomAD v4 |
4 | g.39446746G>A | CA356657083 | KLB | c.2020G>A (p.Ala674Thr) c.1993G>A (p.Ala665Thr) | |
4 | g.39446746G>C | CA356657084 | KLB | c.2020G>C (p.Ala674Pro) c.1993G>C (p.Ala665Pro) | |
4 | g.39446746G>T | CA356657086 | KLB | c.2020G>T (p.Ala674Ser) c.1993G>T (p.Ala665Ser) | |
4 | g.39446747C>A | CA356657088 | KLB | c.2021C>A (p.Ala674Asp) c.1994C>A (p.Ala665Asp) | |
4 | g.39446747C>G | CA356657090 | KLB | c.2021C>G (p.Ala674Gly) c.1994C>G (p.Ala665Gly) | gnomAD v4 |
4 | g.39446747C>T | CA356657091 | KLB | c.2021C>T (p.Ala674Val) c.1994C>T (p.Ala665Val) | |
4 | g.39446748T>A | CA439137989 | KLB | c.2022T>A (p.Ala674=) c.1995T>A (p.Ala665=) | |
4 | g.39446748T>C | CA439137991 | KLB | c.2022T>C (p.Ala674=) c.1995T>C (p.Ala665=) | |
4 | g.39446748T>G | CA439137995 | KLB | c.2022T>G (p.Ala674=) c.1995T>G (p.Ala665=) | |
4 | g.39446749G>A | CA356657093 | KLB | c.2023G>A (p.Gly675Arg) c.1996G>A (p.Gly666Arg) | |
4 | g.39446749G>C | CA356657095 | KLB | c.2023G>C (p.Gly675Arg) c.1996G>C (p.Gly666Arg) | |
4 | g.39446749G>T | CA356657097 | KLB | c.2023G>T (p.Gly675Trp) c.1996G>T (p.Gly666Trp) | |
4 | g.39446750G>A | CA356657098 | KLB | c.2024G>A (p.Gly675Glu) c.1997G>A (p.Gly666Glu) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.39446750G>C | CA356657100 | KLB | c.2024G>C (p.Gly675Ala) c.1997G>C (p.Gly666Ala) | |
4 | g.39446750G= | CA1452209695 | KLB | c.2024G= (p.Gly675=) c.1997G= (p.Gly666=) | |
4 | g.39446750G>T | CA356657101 | KLB | c.2024G>T (p.Gly675Val) c.1997G>T (p.Gly666Val) | gnomAD v4 |
4 | g.39446751G>A | CA439138002 | KLB | c.2025G>A (p.Gly675=) c.1998G>A (p.Gly666=) | |
4 | g.39446751G>C | CA439138003 | KLB | c.2025G>C (p.Gly675=) c.1998G>C (p.Gly666=) | |
4 | g.39446751G>T | CA439138004 | KLB | c.2025G>T (p.Gly675=) c.1998G>T (p.Gly666=) | gnomAD v4 |
4 | g.39446752C>A | CA2893929 | KLB | c.2026C>A (p.Leu676Met) c.1999C>A (p.Leu667Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446752C= | CA1452209696 | KLB | c.2026C= (p.Leu676=) c.1999C= (p.Leu667=) | |
4 | g.39446752C>G | CA356657103 | KLB | c.2026C>G (p.Leu676Val) c.1999C>G (p.Leu667Val) | |
4 | g.39446752C>T | CA439138006 | KLB | c.2026C>T (p.Leu676=) c.1999C>T (p.Leu667=) | gnomAD v4 |
4 | g.39446753T>A | CA356657106 | KLB | c.2027T>A (p.Leu676Gln) c.2000T>A (p.Leu667Gln) | dbSNP |
4 | g.39446753T>C | CA356657107 | KLB | c.2027T>C (p.Leu676Pro) c.2000T>C (p.Leu667Pro) | |
4 | g.39446753T>G | CA356657109 | KLB | c.2027T>G (p.Leu676Arg) c.2000T>G (p.Leu667Arg) | |
4 | g.39446753T= | CA1452209697 | KLB | c.2027T= (p.Leu676=) c.2000T= (p.Leu667=) | |
4 | g.39446754G>A | CA439138013 | KLB | c.2028G>A (p.Leu676=) c.2001G>A (p.Leu667=) | |
4 | g.39446754G>C | CA439138015 | KLB | c.2028G>C (p.Leu676=) c.2001G>C (p.Leu667=) | dbSNP gnomAD v4 |
4 | g.39446754G= | CA1452209698 | KLB | c.2028G= (p.Leu676=) c.2001G= (p.Leu667=) | |
4 | g.39446754G>T | CA439138016 | KLB | c.2028G>T (p.Leu676=) c.2001G>T (p.Leu667=) | |
4 | g.39446755T>A | CA356657110 | KLB | c.2029T>A (p.Cys677Ser) c.2002T>A (p.Cys668Ser) | |
4 | g.39446755T>C | CA356657112 | KLB | c.2029T>C (p.Cys677Arg) c.2002T>C (p.Cys668Arg) | |
4 | g.39446755T>G | CA356657114 | KLB | c.2029T>G (p.Cys677Gly) c.2002T>G (p.Cys668Gly) | |
4 | g.39446756G>A | CA356657118 | KLB | c.2030G>A (p.Cys677Tyr) c.2003G>A (p.Cys668Tyr) | |
4 | g.39446756G>C | CA356657116 | KLB | c.2030G>C (p.Cys677Ser) c.2003G>C (p.Cys668Ser) | |
4 | g.39446756G>T | CA356657117 | KLB | c.2030G>T (p.Cys677Phe) c.2003G>T (p.Cys668Phe) | |
4 | g.39446757C>A | CA356657120 | KLB | c.2031C>A (p.Cys677Ter) c.2004C>A (p.Cys668Ter) | |
4 | g.39446757C>G | CA356657122 | KLB | c.2031C>G (p.Cys677Trp) c.2004C>G (p.Cys668Trp) | |
4 | g.39446757C>T | CA439138021 | KLB | c.2031C>T (p.Cys677=) c.2004C>T (p.Cys668=) | |
4 | g.39446758T>A | CA356657123 | KLB | c.2032T>A (p.Phe678Ile) c.2005T>A (p.Phe669Ile) | |
4 | g.39446758T>C | CA356657125 | KLB | c.2032T>C (p.Phe678Leu) c.2005T>C (p.Phe669Leu) | gnomAD v4 |
4 | g.39446758T>G | CA356657126 | KLB | c.2032T>G (p.Phe678Val) c.2005T>G (p.Phe669Val) | |
4 | g.39446758_39446791delinsTTCCAGGAGCTGGGGGACCTGGTGAAGCTCTGGA | CA1452209699 | KLB | c.2032_2065delinsTTCCAGGAGCTGGGGGACCTGGTGAAGCTCTGGA (p.Phe678=) c.2005_2038delinsTTCCAGGAGCTGGGGGACCTGGTGAAGCTCTGGA (p.Phe669=) | |
4 | g.39446759T>A | CA356657128 | KLB | c.2033T>A (p.Phe678Tyr) c.2006T>A (p.Phe669Tyr) | gnomAD v4 |
4 | g.39446759T>C | CA356657131 | KLB | c.2033T>C (p.Phe678Ser) c.2006T>C (p.Phe669Ser) | |
4 | g.39446759T>G | CA356657130 | KLB | c.2033T>G (p.Phe678Cys) c.2006T>G (p.Phe669Cys) | |
4 | g.39446761_39446793del | CA551140287 | KLB | c.2035_2067del (p.Gln679_Ile689del) c.2008_2040del (p.Gln670_Ile680del) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.39446760C>A | CA356657133 | KLB | c.2034C>A (p.Phe678Leu) c.2007C>A (p.Phe669Leu) | |
4 | g.39446760C>G | CA356657135 | KLB | c.2034C>G (p.Phe678Leu) c.2007C>G (p.Phe669Leu) | |
4 | g.39446760C>T | CA439138030 | KLB | c.2034C>T (p.Phe678=) c.2007C>T (p.Phe669=) | |
4 | g.39446761C>A | CA356657137 | KLB | c.2035C>A (p.Gln679Lys) c.2008C>A (p.Gln670Lys) | |
4 | g.39446761C>G | CA356657138 | KLB | c.2035C>G (p.Gln679Glu) c.2008C>G (p.Gln670Glu) | |
4 | g.39446761C>T | CA356657139 | KLB | c.2035C>T (p.Gln679Ter) c.2008C>T (p.Gln670Ter) | gnomAD v4 |
4 | g.39446762A= | CA1452131037 | KLB | c.2036A= (p.Gln679=) c.2009A= (p.Gln670=) | |
4 | g.39446762A>C | CA356657140 | KLB | c.2036A>C (p.Gln679Pro) c.2009A>C (p.Gln670Pro) | |
4 | g.39446762A>G | CA356657142 | KLB | c.2036A>G (p.Gln679Arg) c.2009A>G (p.Gln670Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446762A>T | CA356657144 | KLB | c.2036A>T (p.Gln679Leu) c.2009A>T (p.Gln670Leu) | |
4 | g.39446763G>A | CA439138037 | KLB | c.2037G>A (p.Gln679=) c.2010G>A (p.Gln670=) | |
4 | g.39446763G>C | CA356657146 | KLB | c.2037G>C (p.Gln679His) c.2010G>C (p.Gln670His) | |
4 | g.39446763G>T | CA356657147 | KLB | c.2037G>T (p.Gln679His) c.2010G>T (p.Gln670His) | |
4 | g.39446764G>A | CA356657151 | KLB | c.2038G>A (p.Glu680Lys) c.2011G>A (p.Glu671Lys) | gnomAD v4 |
4 | g.39446764G>C | CA356657150 | KLB | c.2038G>C (p.Glu680Gln) c.2011G>C (p.Glu671Gln) | |
4 | g.39446764G>T | CA356657149 | KLB | c.2038G>T (p.Glu680Ter) c.2011G>T (p.Glu671Ter) | gnomAD v4 |
4 | g.39446765A>C | CA356657153 | KLB | c.2039A>C (p.Glu680Ala) c.2012A>C (p.Glu671Ala) | |
4 | g.39446765A>G | CA356657154 | KLB | c.2039A>G (p.Glu680Gly) c.2012A>G (p.Glu671Gly) | |
4 | g.39446765A>T | CA356657156 | KLB | c.2039A>T (p.Glu680Val) c.2012A>T (p.Glu671Val) | |
4 | g.39446766G>A | CA439138046 | KLB | c.2040G>A (p.Glu680=) c.2013G>A (p.Glu671=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446766G>C | CA356657157 | KLB | c.2040G>C (p.Glu680Asp) c.2013G>C (p.Glu671Asp) | |
4 | g.39446766G= | CA1452131038 | KLB | c.2040G= (p.Glu680=) c.2013G= (p.Glu671=) | |
4 | g.39446766G>T | CA356657159 | KLB | c.2040G>T (p.Glu680Asp) c.2013G>T (p.Glu671Asp) | |
4 | g.39446767C>A | CA356657161 | KLB | c.2041C>A (p.Leu681Met) c.2014C>A (p.Leu672Met) | gnomAD v4 |
4 | g.39446767C>G | CA356657162 | KLB | c.2041C>G (p.Leu681Val) c.2014C>G (p.Leu672Val) | |
4 | g.39446767C>T | CA439138052 | KLB | c.2041C>T (p.Leu681=) c.2014C>T (p.Leu672=) | gnomAD v4 |
4 | g.39446768T>A | CA356657163 | KLB | c.2042T>A (p.Leu681Gln) c.2015T>A (p.Leu672Gln) | |
4 | g.39446768T>C | CA356657165 | KLB | c.2042T>C (p.Leu681Pro) c.2015T>C (p.Leu672Pro) | |
4 | g.39446768T>G | CA356657167 | KLB | c.2042T>G (p.Leu681Arg) c.2015T>G (p.Leu672Arg) | |
4 | g.39446769G>A | CA439138056 | KLB | c.2043G>A (p.Leu681=) c.2016G>A (p.Leu672=) | |
4 | g.39446769G>C | CA439138057 | KLB | c.2043G>C (p.Leu681=) c.2016G>C (p.Leu672=) | |
4 | g.39446769G>T | CA439138058 | KLB | c.2043G>T (p.Leu681=) c.2016G>T (p.Leu672=) | |
4 | g.39446773del | CA2670372694 | KLB | c.2047del (p.Asp683ThrfsTer3) c.2020del (p.Asp674ThrfsTer3) | gnomAD v4 |
4 | g.39446770G>A | CA356657169 | KLB | c.2044G>A (p.Gly682Arg) c.2017G>A (p.Gly673Arg) | |
4 | g.39446770G>C | CA356657170 | KLB | c.2044G>C (p.Gly682Arg) c.2017G>C (p.Gly673Arg) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446770G= | CA1452131039 | KLB | c.2044G= (p.Gly682=) c.2017G= (p.Gly673=) | |
4 | g.39446770G>T | CA356657171 | KLB | c.2044G>T (p.Gly682Trp) c.2017G>T (p.Gly673Trp) | |
4 | g.39446771G>A | CA356657177 | KLB | c.2045G>A (p.Gly682Glu) c.2018G>A (p.Gly673Glu) | |
4 | g.39446771G>C | CA356657176 | KLB | c.2045G>C (p.Gly682Ala) c.2018G>C (p.Gly673Ala) | |
4 | g.39446771G>T | CA356657174 | KLB | c.2045G>T (p.Gly682Val) c.2018G>T (p.Gly673Val) | |
4 | g.39446772G>A | CA439138065 | KLB | c.2046G>A (p.Gly682=) c.2019G>A (p.Gly673=) | |
4 | g.39446772G>C | CA439138066 | KLB | c.2046G>C (p.Gly682=) c.2019G>C (p.Gly673=) | |
4 | g.39446772G>T | CA439138067 | KLB | c.2046G>T (p.Gly682=) c.2019G>T (p.Gly673=) | |
4 | g.39446773G>A | CA356657179 | KLB | c.2047G>A (p.Asp683Asn) c.2020G>A (p.Asp674Asn) | gnomAD v4 |
4 | g.39446773G>C | CA2893930 | KLB | c.2047G>C (p.Asp683His) c.2020G>C (p.Asp674His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446773G= | CA1452131040 | KLB | c.2047G= (p.Asp683=) c.2020G= (p.Asp674=) | |
4 | g.39446773G>T | CA356657182 | KLB | c.2047G>T (p.Asp683Tyr) c.2020G>T (p.Asp674Tyr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446774A>C | CA356657184 | KLB | c.2048A>C (p.Asp683Ala) c.2021A>C (p.Asp674Ala) | |
4 | g.39446774A>G | CA356657186 | KLB | c.2048A>G (p.Asp683Gly) c.2021A>G (p.Asp674Gly) | |
4 | g.39446774A>T | CA356657187 | KLB | c.2048A>T (p.Asp683Val) c.2021A>T (p.Asp674Val) | |
4 | g.39446775C>A | CA356657189 | KLB | c.2049C>A (p.Asp683Glu) c.2022C>A (p.Asp674Glu) | |
4 | g.39446775C>G | CA356657190 | KLB | c.2049C>G (p.Asp683Glu) c.2022C>G (p.Asp674Glu) | |
4 | g.39446775C>T | CA439138072 | KLB | c.2049C>T (p.Asp683=) c.2022C>T (p.Asp674=) | |
4 | g.39446776C>A | CA356657192 | KLB | c.2050C>A (p.Leu684Met) c.2023C>A (p.Leu675Met) | |
4 | g.39446776C>G | CA356657194 | KLB | c.2050C>G (p.Leu684Val) c.2023C>G (p.Leu675Val) | |
4 | g.39446776C>T | CA439138074 | KLB | c.2050C>T (p.Leu684=) c.2023C>T (p.Leu675=) | |
4 | g.39446777T>A | CA356657196 | KLB | c.2051T>A (p.Leu684Gln) c.2024T>A (p.Leu675Gln) | |
4 | g.39446777T>C | CA356657198 | KLB | c.2051T>C (p.Leu684Pro) c.2024T>C (p.Leu675Pro) | |
4 | g.39446777T>G | CA356657199 | KLB | c.2051T>G (p.Leu684Arg) c.2024T>G (p.Leu675Arg) | gnomAD v4 |
4 | g.39446778G>A | CA439138078 | KLB | c.2052G>A (p.Leu684=) c.2025G>A (p.Leu675=) | |
4 | g.39446778G>C | CA439138079 | KLB | c.2052G>C (p.Leu684=) c.2025G>C (p.Leu675=) | gnomAD v4 |
4 | g.39446778G>T | CA439138080 | KLB | c.2052G>T (p.Leu684=) c.2025G>T (p.Leu675=) | |
4 | g.39446779G>A | CA356657203 | KLB | c.2053G>A (p.Val685Met) c.2026G>A (p.Val676Met) | gnomAD v4 |
4 | g.39446779G>C | CA356657205 | KLB | c.2053G>C (p.Val685Leu) c.2026G>C (p.Val676Leu) | |
4 | g.39446779G>T | CA356657201 | KLB | c.2053G>T (p.Val685Leu) c.2026G>T (p.Val676Leu) | |
4 | g.39446780T>A | CA356657206 | KLB | c.2054T>A (p.Val685Glu) c.2027T>A (p.Val676Glu) | |
4 | g.39446780T>C | CA356657208 | KLB | c.2054T>C (p.Val685Ala) c.2027T>C (p.Val676Ala) | |
4 | g.39446780T>G | CA356657210 | KLB | c.2054T>G (p.Val685Gly) c.2027T>G (p.Val676Gly) | |
4 | g.39446781G>A | CA439138084 | KLB | c.2055G>A (p.Val685=) c.2028G>A (p.Val676=) | |
4 | g.39446781G>C | CA439138085 | KLB | c.2055G>C (p.Val685=) c.2028G>C (p.Val676=) | |
4 | g.39446781G= | CA1452131041 | KLB | c.2055G= (p.Val685=) c.2028G= (p.Val676=) | |
4 | g.39446781G>T | CA439138087 | KLB | c.2055G>T (p.Val685=) c.2028G>T (p.Val676=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446782A>C | CA356657212 | KLB | c.2056A>C (p.Lys686Gln) c.2029A>C (p.Lys677Gln) | |
4 | g.39446782A>G | CA356657213 | KLB | c.2056A>G (p.Lys686Glu) c.2029A>G (p.Lys677Glu) | |
4 | g.39446782A>T | CA356657214 | KLB | c.2056A>T (p.Lys686Ter) c.2029A>T (p.Lys677Ter) | |
4 | g.39446783A>C | CA356657217 | KLB | c.2057A>C (p.Lys686Thr) c.2030A>C (p.Lys677Thr) | |
4 | g.39446783A>G | CA356657218 | KLB | c.2057A>G (p.Lys686Arg) c.2030A>G (p.Lys677Arg) | |
4 | g.39446783A>T | CA356657219 | KLB | c.2057A>T (p.Lys686Met) c.2030A>T (p.Lys677Met) | |
4 | g.39446784G>A | CA439138094 | KLB | c.2058G>A (p.Lys686=) c.2031G>A (p.Lys677=) | gnomAD v4 |
4 | g.39446784G>C | CA356657221 | KLB | c.2058G>C (p.Lys686Asn) c.2031G>C (p.Lys677Asn) | |
4 | g.39446784G>T | CA356657223 | KLB | c.2058G>T (p.Lys686Asn) c.2031G>T (p.Lys677Asn) | gnomAD v4 |
4 | g.39446785C>A | CA356657228 | KLB | c.2059C>A (p.Leu687Ile) c.2032C>A (p.Leu678Ile) | gnomAD v4 |
4 | g.39446785C>G | CA356657226 | KLB | c.2059C>G (p.Leu687Val) c.2032C>G (p.Leu678Val) | |
4 | g.39446785C>T | CA356657225 | KLB | c.2059C>T (p.Leu687Phe) c.2032C>T (p.Leu678Phe) | |
4 | g.39446785dup | CA2839746504 | KLB | c.2059dup (p.Leu687ProfsTer9) c.2032dup (p.Leu678ProfsTer9) | |
4 | g.39446786T>A | CA356657230 | KLB | c.2060T>A (p.Leu687His) c.2033T>A (p.Leu678His) | |
4 | g.39446786T>C | CA356657231 | KLB | c.2060T>C (p.Leu687Pro) c.2033T>C (p.Leu678Pro) | |
4 | g.39446786T>G | CA356657233 | KLB | c.2060T>G (p.Leu687Arg) c.2033T>G (p.Leu678Arg) | |
4 | g.39446787C>A | CA439138105 | KLB | c.2061C>A (p.Leu687=) c.2034C>A (p.Leu678=) | |
4 | g.39446787C= | CA1452131042 | KLB | c.2061C= (p.Leu687=) c.2034C= (p.Leu678=) | |
4 | g.39446787C>G | CA439138102 | KLB | c.2061C>G (p.Leu687=) c.2034C>G (p.Leu678=) | |
4 | g.39446787C>T | CA439138100 | KLB | c.2061C>T (p.Leu687=) c.2034C>T (p.Leu678=) | dbSNP gnomAD v2 |
4 | g.39446787dup | CA2761121601 | KLB | c.2061dup (p.Trp688LeufsTer8) c.2034dup (p.Trp679LeufsTer8) | |
4 | g.39446788T>A | CA356657235 | KLB | c.2062T>A (p.Trp688Arg) c.2035T>A (p.Trp679Arg) | |
4 | g.39446788T>C | CA356657236 | KLB | c.2062T>C (p.Trp688Arg) c.2035T>C (p.Trp679Arg) | |
4 | g.39446788T>G | CA356657238 | KLB | c.2062T>G (p.Trp688Gly) c.2035T>G (p.Trp679Gly) | |
4 | g.39446789G>A | CA356657240 | KLB | c.2063G>A (p.Trp688Ter) c.2036G>A (p.Trp679Ter) | dbSNP |
4 | g.39446789G>C | CA356657241 | KLB | c.2063G>C (p.Trp688Ser) c.2036G>C (p.Trp679Ser) | |
4 | g.39446789G= | CA1452131043 | KLB | c.2063G= (p.Trp688=) c.2036G= (p.Trp679=) | |
4 | g.39446789G>T | CA356657243 | KLB | c.2063G>T (p.Trp688Leu) c.2036G>T (p.Trp679Leu) | |
4 | g.39446790G>A | CA356657245 | KLB | c.2064G>A (p.Trp688Ter) c.2037G>A (p.Trp679Ter) | |
4 | g.39446790G>C | CA356657246 | KLB | c.2064G>C (p.Trp688Cys) c.2037G>C (p.Trp679Cys) | |
4 | g.39446790G>T | CA356657248 | KLB | c.2064G>T (p.Trp688Cys) c.2037G>T (p.Trp679Cys) | |
4 | g.39446791A= | CA1452131044 | KLB | c.2065A= (p.Ile689=) c.2038A= (p.Ile680=) | |
4 | g.39446791A>C | CA356657253 | KLB | c.2065A>C (p.Ile689Leu) c.2038A>C (p.Ile680Leu) | |
4 | g.39446791A>G | CA2893931 | KLB | c.2065A>G (p.Ile689Val) c.2038A>G (p.Ile680Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446791A>T | CA356657250 | KLB | c.2065A>T (p.Ile689Phe) c.2038A>T (p.Ile680Phe) | |
4 | g.39446792T>A | CA356657254 | KLB | c.2066T>A (p.Ile689Asn) c.2039T>A (p.Ile680Asn) | |
4 | g.39446792T>C | CA356657256 | KLB | c.2066T>C (p.Ile689Thr) c.2039T>C (p.Ile680Thr) | |
4 | g.39446792T>G | CA356657255 | KLB | c.2066T>G (p.Ile689Ser) c.2039T>G (p.Ile680Ser) | |
4 | g.39446793C>A | CA439138111 | KLB | c.2067C>A (p.Ile689=) c.2040C>A (p.Ile680=) | |
4 | g.39446793C>G | CA356657257 | KLB | c.2067C>G (p.Ile689Met) c.2040C>G (p.Ile680Met) | |
4 | g.39446793C>T | CA439138112 | KLB | c.2067C>T (p.Ile689=) c.2040C>T (p.Ile680=) | |
4 | g.39446794A>C | CA356657259 | KLB | c.2068A>C (p.Thr690Pro) c.2041A>C (p.Thr681Pro) | |
4 | g.39446794A>G | CA356657261 | KLB | c.2068A>G (p.Thr690Ala) c.2041A>G (p.Thr681Ala) | |
4 | g.39446794A>T | CA356657262 | KLB | c.2068A>T (p.Thr690Ser) c.2041A>T (p.Thr681Ser) | |
4 | g.39446795C>A | CA356657264 | KLB | c.2069C>A (p.Thr690Asn) c.2042C>A (p.Thr681Asn) | |
4 | g.39446795C>G | CA356657266 | KLB | c.2069C>G (p.Thr690Ser) c.2042C>G (p.Thr681Ser) | |
4 | g.39446795C>T | CA356657268 | KLB | c.2069C>T (p.Thr690Ile) c.2042C>T (p.Thr681Ile) | |
4 | g.39446796C>A | CA439138115 | KLB | c.2070C>A (p.Thr690=) c.2043C>A (p.Thr681=) | gnomAD v4 |
4 | g.39446796C>G | CA439138116 | KLB | c.2070C>G (p.Thr690=) c.2043C>G (p.Thr681=) | |
4 | g.39446796C>T | CA439138117 | KLB | c.2070C>T (p.Thr690=) c.2043C>T (p.Thr681=) | |
4 | g.39446797A>C | CA356657270 | KLB | c.2071A>C (p.Ile691Leu) c.2044A>C (p.Ile682Leu) | |
4 | g.39446797A>G | CA356657273 | KLB | c.2071A>G (p.Ile691Val) c.2044A>G (p.Ile682Val) | |
4 | g.39446797A>T | CA356657271 | KLB | c.2071A>T (p.Ile691Phe) c.2044A>T (p.Ile682Phe) | |
4 | g.39446798T>A | CA356657275 | KLB | c.2072T>A (p.Ile691Asn) c.2045T>A (p.Ile682Asn) | |
4 | g.39446798T>C | CA356657276 | KLB | c.2072T>C (p.Ile691Thr) c.2045T>C (p.Ile682Thr) | dbSNP |
4 | g.39446798T>G | CA356657277 | KLB | c.2072T>G (p.Ile691Ser) c.2045T>G (p.Ile682Ser) | |
4 | g.39446798T= | CA1452131045 | KLB | c.2072T= (p.Ile691=) c.2045T= (p.Ile682=) | |
4 | g.39446799C>A | CA439138119 | KLB | c.2073C>A (p.Ile691=) c.2046C>A (p.Ile682=) | |
4 | g.39446799C= | CA1452131046 | KLB | c.2073C= (p.Ile691=) c.2046C= (p.Ile682=) | |
4 | g.39446799C>G | CA2893932 | KLB | c.2073C>G (p.Ile691Met) c.2046C>G (p.Ile682Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446799C>T | CA439138121 | KLB | c.2073C>T (p.Ile691=) c.2046C>T (p.Ile682=) | |
4 | g.39446800A>C | CA356657280 | KLB | c.2074A>C (p.Asn692His) c.2047A>C (p.Asn683His) | |
4 | g.39446800A>G | CA356657278 | KLB | c.2074A>G (p.Asn692Asp) c.2047A>G (p.Asn683Asp) | |
4 | g.39446800A>T | CA356657279 | KLB | c.2074A>T (p.Asn692Tyr) c.2047A>T (p.Asn683Tyr) | |
4 | g.39446801del | CA2578069608 | KLB | c.2075del (p.Asn692ThrfsTer6) c.2048del (p.Asn683ThrfsTer6) | |
4 | g.39446801A>C | CA356657281 | KLB | c.2075A>C (p.Asn692Thr) c.2048A>C (p.Asn683Thr) | |
4 | g.39446801A>G | CA356657282 | KLB | c.2075A>G (p.Asn692Ser) c.2048A>G (p.Asn683Ser) | |
4 | g.39446801A>T | CA356657283 | KLB | c.2075A>T (p.Asn692Ile) c.2048A>T (p.Asn683Ile) | |
4 | g.39446802C>A | CA356657284 | KLB | c.2076C>A (p.Asn692Lys) c.2049C>A (p.Asn683Lys) | gnomAD v4 |
4 | g.39446802C= | CA1452131047 | KLB | c.2076C= (p.Asn692=) c.2049C= (p.Asn683=) | |
4 | g.39446802C>G | CA356657285 | KLB | c.2076C>G (p.Asn692Lys) c.2049C>G (p.Asn683Lys) | |
4 | g.39446802C>T | CA2893933 | KLB | c.2076C>T (p.Asn692=) c.2049C>T (p.Asn683=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446803G>A | CA356657286 | KLB | c.2077G>A (p.Glu693Lys) c.2050G>A (p.Glu684Lys) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446803G>C | CA356657287 | KLB | c.2077G>C (p.Glu693Gln) c.2050G>C (p.Glu684Gln) | gnomAD v4 |
4 | g.39446803G= | CA1452131048 | KLB | c.2077G= (p.Glu693=) c.2050G= (p.Glu684=) | |
4 | g.39446803G>T | CA356657288 | KLB | c.2077G>T (p.Glu693Ter) c.2050G>T (p.Glu684Ter) | gnomAD v4 |
4 | g.39446804A>C | CA356657289 | KLB | c.2078A>C (p.Glu693Ala) c.2051A>C (p.Glu684Ala) | |
4 | g.39446804A>G | CA356657290 | KLB | c.2078A>G (p.Glu693Gly) c.2051A>G (p.Glu684Gly) | |
4 | g.39446804A>T | CA356657291 | KLB | c.2078A>T (p.Glu693Val) c.2051A>T (p.Glu684Val) | |
4 | g.39446805G>A | CA2893934 | KLB | c.2079G>A (p.Glu693=) c.2052G>A (p.Glu684=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446805G>C | CA356657293 | KLB | c.2079G>C (p.Glu693Asp) c.2052G>C (p.Glu684Asp) | |
4 | g.39446805G= | CA1452131049 | KLB | c.2079G= (p.Glu693=) c.2052G= (p.Glu684=) | |
4 | g.39446805G>T | CA356657292 | KLB | c.2079G>T (p.Glu693Asp) c.2052G>T (p.Glu684Asp) | |
4 | g.39446806C>A | CA356657294 | KLB | c.2080C>A (p.Pro694Thr) c.2053C>A (p.Pro685Thr) | |
4 | g.39446806C>G | CA356657295 | KLB | c.2080C>G (p.Pro694Ala) c.2053C>G (p.Pro685Ala) | |
4 | g.39446806C>T | CA356657296 | KLB | c.2080C>T (p.Pro694Ser) c.2053C>T (p.Pro685Ser) | gnomAD v4 |
4 | g.39446807C>A | CA356657297 | KLB | c.2081C>A (p.Pro694His) c.2054C>A (p.Pro685His) | |
4 | g.39446807C>G | CA356657298 | KLB | c.2081C>G (p.Pro694Arg) c.2054C>G (p.Pro685Arg) | |
4 | g.39446807C>T | CA356657299 | KLB | c.2081C>T (p.Pro694Leu) c.2054C>T (p.Pro685Leu) | gnomAD v4 |
4 | g.39446808T>A | CA439138134 | KLB | c.2082T>A (p.Pro694=) c.2055T>A (p.Pro685=) | |
4 | g.39446808T>C | CA439138135 | KLB | c.2082T>C (p.Pro694=) c.2055T>C (p.Pro685=) | |
4 | g.39446808T>G | CA439138137 | KLB | c.2082T>G (p.Pro694=) c.2055T>G (p.Pro685=) | |
4 | g.39446809A>C | CA356657300 | KLB | c.2083A>C (p.Asn695His) c.2056A>C (p.Asn686His) | |
4 | g.39446809A>G | CA356657301 | KLB | c.2083A>G (p.Asn695Asp) c.2056A>G (p.Asn686Asp) | |
4 | g.39446809A>T | CA356657302 | KLB | c.2083A>T (p.Asn695Tyr) c.2056A>T (p.Asn686Tyr) | |
4 | g.39446810dup | CA2838765999 | KLB | c.2084dup (p.Asn695LysfsTer5) c.2057dup (p.Asn686LysfsTer5) | |
4 | g.39446810A>C | CA356657303 | KLB | c.2084A>C (p.Asn695Thr) c.2057A>C (p.Asn686Thr) | |
4 | g.39446810A>G | CA356657304 | KLB | c.2084A>G (p.Asn695Ser) c.2057A>G (p.Asn686Ser) | |
4 | g.39446810A>T | CA356657305 | KLB | c.2084A>T (p.Asn695Ile) c.2057A>T (p.Asn686Ile) | |
4 | g.39446811C>A | CA356657307 | KLB | c.2085C>A (p.Asn695Lys) c.2058C>A (p.Asn686Lys) | |
4 | g.39446811C= | CA1452131050 | KLB | c.2085C= (p.Asn695=) c.2058C= (p.Asn686=) | |
4 | g.39446811C>G | CA356657306 | KLB | c.2085C>G (p.Asn695Lys) c.2058C>G (p.Asn686Lys) | |
4 | g.39446811C>T | CA2893935 | KLB | c.2085C>T (p.Asn695=) c.2058C>T (p.Asn686=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446812C>A | CA439138143 | KLB | c.2086C>A (p.Arg696=) c.2059C>A (p.Arg687=) | gnomAD v4 |
4 | g.39446812C>G | CA356657308 | KLB | c.2086C>G (p.Arg696Gly) c.2059C>G (p.Arg687Gly) | |
4 | g.39446812C>T | CA356657309 | KLB | c.2086C>T (p.Arg696Trp) c.2059C>T (p.Arg687Trp) | gnomAD v4 |
4 | g.39446813G>A | CA356657310 | KLB | c.2087G>A (p.Arg696Gln) c.2060G>A (p.Arg687Gln) | gnomAD v4 |
4 | g.39446813G>C | CA356657311 | KLB | c.2087G>C (p.Arg696Pro) c.2060G>C (p.Arg687Pro) | |
4 | g.39446813G>T | CA356657312 | KLB | c.2087G>T (p.Arg696Leu) c.2060G>T (p.Arg687Leu) | gnomAD v4 |
4 | g.39446814G>A | CA2893936 | KLB | c.2088G>A (p.Arg696=) c.2061G>A (p.Arg687=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.39446814G>C | CA439138150 | KLB | c.2088G>C (p.Arg696=) c.2061G>C (p.Arg687=) | gnomAD v4 |
4 | g.39446814G= | CA1452131051 | KLB | c.2088G= (p.Arg696=) c.2061G= (p.Arg687=) | |
4 | g.39446814G>T | CA439138149 | KLB | c.2088G>T (p.Arg696=) c.2061G>T (p.Arg687=) | gnomAD v4 |
4 | g.39446815C>A | CA356657313 | KLB | c.2089C>A (p.Leu697Ile) c.2062C>A (p.Leu688Ile) | |
4 | g.39446815C>G | CA356657314 | KLB | c.2089C>G (p.Leu697Val) c.2062C>G (p.Leu688Val) | gnomAD v4 |
4 | g.39446815C>T | CA439138153 | KLB | c.2089C>T (p.Leu697=) c.2062C>T (p.Leu688=) | |
4 | g.39446816del | CA2839342381 | KLB | c.2090del (p.Leu697GlnfsTer?) c.2063del (p.Leu688GlnfsTer?) | |
4 | g.39446816T>A | CA356657315 | KLB | c.2090T>A (p.Leu697Gln) c.2063T>A (p.Leu688Gln) | |
4 | g.39446816T>C | CA356657316 | KLB | c.2090T>C (p.Leu697Pro) c.2063T>C (p.Leu688Pro) | |
4 | g.39446816T>G | CA356657317 | KLB | c.2090T>G (p.Leu697Arg) c.2063T>G (p.Leu688Arg) | |
4 | g.39446817A>C | CA439138154 | KLB | c.2091A>C (p.Leu697=) c.2064A>C (p.Leu688=) | |
4 | g.39446817A>G | CA439138155 | KLB | c.2091A>G (p.Leu697=) c.2064A>G (p.Leu688=) | |
4 | g.39446817A>T | CA439138156 | KLB | c.2091A>T (p.Leu697=) c.2064A>T (p.Leu688=) | |
4 | g.39446818A>C | CA356657320 | KLB | c.2092A>C (p.Ser698Arg) c.2065A>C (p.Ser689Arg) | |
4 | g.39446818A>G | CA356657319 | KLB | c.2092A>G (p.Ser698Gly) c.2065A>G (p.Ser689Gly) | |
4 | g.39446818A>T | CA356657318 | KLB | c.2092A>T (p.Ser698Cys) c.2065A>T (p.Ser689Cys) | |
4 | g.39446819G>A | CA356657321 | KLB | c.2093G>A (p.Ser698Asn) c.2066G>A (p.Ser689Asn) | gnomAD v4 |
4 | g.39446819G>C | CA2893937 | KLB | c.2093G>C (p.Ser698Thr) c.2066G>C (p.Ser689Thr) | dbSNP ExAC gnomAD v3 gnomAD v4 |
4 | g.39446819G= | CA1452131052 | KLB | c.2093G= (p.Ser698=) c.2066G= (p.Ser689=) | |
4 | g.39446819G>T | CA356657322 | KLB | c.2093G>T (p.Ser698Ile) c.2066G>T (p.Ser689Ile) | |
4 | g.39446820T>A | CA356657323 | KLB | c.2094T>A (p.Ser698Arg) c.2067T>A (p.Ser689Arg) | dbSNP gnomAD v2 gnomAD v4 |
4 | g.39446820T>C | CA439138158 | KLB | c.2094T>C (p.Ser698=) c.2067T>C (p.Ser689=) | |
4 | g.39446820T>G | CA356657324 | KLB | c.2094T>G (p.Ser698Arg) c.2067T>G (p.Ser689Arg) | |
4 | g.39446820T= | CA1452131053 | KLB | c.2094T= (p.Ser698=) c.2067T= (p.Ser689=) | |
4 | g.39446820dup | CA2839746505 | KLB | c.2094dup (p.Asp699Ter) c.2067dup (p.Asp690Ter) | |
4 | g.39446821G>A | CA356657325 | KLB | c.2095G>A (p.Asp699Asn) c.2068G>A (p.Asp690Asn) | dbSNP |
4 | g.39446821G>C | CA356657326 | KLB | c.2095G>C (p.Asp699His) c.2068G>C (p.Asp690His) | |
4 | g.39446821G= | CA1452131054 | KLB | c.2095G= (p.Asp699=) c.2068G= (p.Asp690=) | |
4 | g.39446821G>T | CA356657327 | KLB | c.2095G>T (p.Asp699Tyr) c.2068G>T (p.Asp690Tyr) | gnomAD v4 |
4 | g.39446822A>C | CA356657328 | KLB | c.2096A>C (p.Asp699Ala) c.2069A>C (p.Asp690Ala) | |
4 | g.39446822A>G | CA356657329 | KLB | c.2096A>G (p.Asp699Gly) c.2069A>G (p.Asp690Gly) | |
4 | g.39446822A>T | CA356657330 | KLB | c.2096A>T (p.Asp699Val) c.2069A>T (p.Asp690Val) | |
4 | g.39446823C>A | CA356657331 | KLB | c.2097C>A (p.Asp699Glu) c.2070C>A (p.Asp690Glu) | |
4 | g.39446823C>G | CA356657332 | KLB | c.2097C>G (p.Asp699Glu) c.2070C>G (p.Asp690Glu) | |
4 | g.39446823C>T | CA439138161 | KLB | c.2097C>T (p.Asp699=) c.2070C>T (p.Asp690=) | |
4 | g.39446824A>C | CA356657335 | KLB | c.2098A>C (p.Ile700Leu) c.2071A>C (p.Ile691Leu) | |
4 | g.39446824A>G | CA356657334 | KLB | c.2098A>G (p.Ile700Val) c.2071A>G (p.Ile691Val) | |
4 | g.39446824A>T | CA356657333 | KLB | c.2098A>T (p.Ile700Phe) c.2071A>T (p.Ile691Phe) | |
4 | g.39446825T>A | CA356657336 | KLB | c.2099T>A (p.Ile700Asn) c.2072T>A (p.Ile691Asn) | |
4 | g.39446825T>C | CA356657337 | KLB | c.2099T>C (p.Ile700Thr) c.2072T>C (p.Ile691Thr) | |
4 | g.39446825T>G | CA356657338 | KLB | c.2099T>G (p.Ile700Ser) c.2072T>G (p.Ile691Ser) | |
4 | g.39446826C>A | CA95711785 | KLB | c.2100C>A (p.Ile700=) c.2073C>A (p.Ile691=) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.39446826C= | CA1452131055 | KLB | c.2100C= (p.Ile700=) c.2073C= (p.Ile691=) | |
4 | g.39446826C>G | CA356657339 | KLB | c.2100C>G (p.Ile700Met) c.2073C>G (p.Ile691Met) | gnomAD v4 |
4 | g.39446826C>T | CA2893938 | KLB | c.2100C>T (p.Ile700=) c.2073C>T (p.Ile691=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
4 | g.39446827T>A | CA356657340 | KLB | c.2101T>A (p.Tyr701Asn) c.2074T>A (p.Tyr692Asn) | |
4 | g.39446827T>C | CA356657341 | KLB | c.2101T>C (p.Tyr701His) c.2074T>C (p.Tyr692His) | |
4 | g.39446827T>G | CA356657342 | KLB | c.2101T>G (p.Tyr701Asp) c.2074T>G (p.Tyr692Asp) |