Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.235806594C>ACA344956750LYSTc.2542G>T (p.Glu848Ter)
c.1945G>T (p.Glu649Ter)
n.3093G>T
c.205G>T (p.Glu69Ter)
n.2724G>T
1g.235806594C=CA2486650237LYSTc.2542G= (p.Glu848=)
c.1945G= (p.Glu649=)
n.3093G=
c.205G= (p.Glu69=)
n.2724G=
1g.235806594C>GCA344956752LYSTc.2542G>C (p.Glu848Gln)
c.1945G>C (p.Glu649Gln)
n.3093G>C
c.205G>C (p.Glu69Gln)
n.2724G>C
 gnomAD v4
1g.235806594C>TCA344956753LYSTc.2542G>A (p.Glu848Lys)
c.1945G>A (p.Glu649Lys)
n.3093G>A
c.205G>A (p.Glu69Lys)
n.2724G>A
 dbSNP
1g.235806594_235806597delinsCCTTCA2486650236LYSTc.2539_2542delinsAAGG (p.Lys847=)
c.1942_1945delinsAAGG (p.Lys648=)
n.3090_3093delinsAAGG
c.202_205delinsAAGG (p.Lys68=)
n.2721_2724delinsAAGG
1g.235806595C>ACA344956759LYSTc.2541G>T (p.Lys847Asn)
c.1944G>T (p.Lys648Asn)
n.3092G>T
c.204G>T (p.Lys68Asn)
n.2723G>T
1g.235806595C>GCA344956755LYSTc.2541G>C (p.Lys847Asn)
c.1944G>C (p.Lys648Asn)
n.3092G>C
c.204G>C (p.Lys68Asn)
n.2723G>C
1g.235806595C>TCA424027572LYSTc.2541G>A (p.Lys847=)
c.1944G>A (p.Lys648=)
n.3092G>A
c.204G>A (p.Lys68=)
n.2723G>A
1g.235806595_235806596delinsCTCA2486650238LYSTc.2540_2541delinsAG (p.Lys847=)
c.1943_1944delinsAG (p.Lys648=)
n.3091_3092delinsAG
c.203_204delinsAG (p.Lys68=)
n.2722_2723delinsAG
1g.235806597_235806599delCA1467257LYSTc.2539_2541del (p.Lys847del)
c.1942_1944del (p.Lys648del)
n.3090_3092del
c.202_204del (p.Lys68del)
n.2721_2723del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806596T>ACA344956760LYSTc.2540A>T (p.Lys847Met)
c.1943A>T (p.Lys648Met)
n.3091A>T
c.203A>T (p.Lys68Met)
n.2722A>T
1g.235806596T>CCA344956762LYSTc.2540A>G (p.Lys847Arg)
c.1943A>G (p.Lys648Arg)
n.3091A>G
c.203A>G (p.Lys68Arg)
n.2722A>G
1g.235806596T>GCA344956764LYSTc.2540A>C (p.Lys847Thr)
c.1943A>C (p.Lys648Thr)
n.3091A>C
c.203A>C (p.Lys68Thr)
n.2722A>C
1g.235806597delCA2486650239LYSTc.2540del (p.Lys847ArgfsTer?)
c.1943del (p.Lys648ArgfsTer?)
n.3091del
c.203del (p.Lys68ArgfsTer?)
n.2722del
 ClinVar dbSNP gnomAD v4
1g.235806597T>ACA344956766LYSTc.2539A>T (p.Lys847Ter)
c.1942A>T (p.Lys648Ter)
n.3090A>T
c.202A>T (p.Lys68Ter)
n.2721A>T
1g.235806597T>CCA344956768LYSTc.2539A>G (p.Lys847Glu)
c.1942A>G (p.Lys648Glu)
n.3090A>G
c.202A>G (p.Lys68Glu)
n.2721A>G
1g.235806597T>GCA344956770LYSTc.2539A>C (p.Lys847Gln)
c.1942A>C (p.Lys648Gln)
n.3090A>C
c.202A>C (p.Lys68Gln)
n.2721A>C
1g.235806598C>ACA344956772LYSTc.2538G>T (p.Gln846His)
c.1941G>T (p.Gln647His)
n.3089G>T
c.201G>T (p.Gln67His)
n.2720G>T
1g.235806598C=CA2486650240LYSTc.2538G= (p.Gln846=)
c.1941G= (p.Gln647=)
n.3089G=
c.201G= (p.Gln67=)
n.2720G=
1g.235806598C>GCA344956774LYSTc.2538G>C (p.Gln846His)
c.1941G>C (p.Gln647His)
n.3089G>C
c.201G>C (p.Gln67His)
n.2720G>C
 dbSNP gnomAD v4
1g.235806598C>TCA424027573LYSTc.2538G>A (p.Gln846=)
c.1941G>A (p.Gln647=)
n.3089G>A
c.201G>A (p.Gln67=)
n.2720G>A
1g.235806599T>ACA344956777LYSTc.2537A>T (p.Gln846Leu)
c.1940A>T (p.Gln647Leu)
n.3088A>T
c.200A>T (p.Gln67Leu)
n.2719A>T
 dbSNP gnomAD v2 gnomAD v4
1g.235806599T>CCA344956778LYSTc.2537A>G (p.Gln846Arg)
c.1940A>G (p.Gln647Arg)
n.3088A>G
c.200A>G (p.Gln67Arg)
n.2719A>G
1g.235806599T>GCA344956780LYSTc.2537A>C (p.Gln846Pro)
c.1940A>C (p.Gln647Pro)
n.3088A>C
c.200A>C (p.Gln67Pro)
n.2719A>C
1g.235806599T=CA2486650241LYSTc.2537A= (p.Gln846=)
c.1940A= (p.Gln647=)
n.3088A=
c.200A= (p.Gln67=)
n.2719A=
1g.235806600G>ACA344956783LYSTc.2536C>T (p.Gln846Ter)
c.1939C>T (p.Gln647Ter)
n.3087C>T
c.199C>T (p.Gln67Ter)
n.2718C>T
1g.235806600G>CCA344956786LYSTc.2536C>G (p.Gln846Glu)
c.1939C>G (p.Gln647Glu)
n.3087C>G
c.199C>G (p.Gln67Glu)
n.2718C>G
 gnomAD v4
1g.235806600G>TCA344956785LYSTc.2536C>A (p.Gln846Lys)
c.1939C>A (p.Gln647Lys)
n.3087C>A
c.199C>A (p.Gln67Lys)
n.2718C>A
1g.235806601T>ACA344956788LYSTc.2535A>T (p.Glu845Asp)
c.1938A>T (p.Glu646Asp)
n.3086A>T
c.198A>T (p.Glu66Asp)
n.2717A>T
1g.235806601T>CCA424027574LYSTc.2535A>G (p.Glu845=)
c.1938A>G (p.Glu646=)
n.3086A>G
c.198A>G (p.Glu66=)
n.2717A>G
1g.235806601T>GCA344956790LYSTc.2535A>C (p.Glu845Asp)
c.1938A>C (p.Glu646Asp)
n.3086A>C
c.198A>C (p.Glu66Asp)
n.2717A>C
1g.235806602T>ACA344956793LYSTc.2534A>T (p.Glu845Val)
c.1937A>T (p.Glu646Val)
n.3085A>T
c.197A>T (p.Glu66Val)
n.2716A>T
1g.235806602T>CCA344956796LYSTc.2534A>G (p.Glu845Gly)
c.1937A>G (p.Glu646Gly)
n.3085A>G
c.197A>G (p.Glu66Gly)
n.2716A>G
1g.235806602T>GCA344956794LYSTc.2534A>C (p.Glu845Ala)
c.1937A>C (p.Glu646Ala)
n.3085A>C
c.197A>C (p.Glu66Ala)
n.2716A>C
1g.235806603C>ACA344956798LYSTc.2533G>T (p.Glu845Ter)
c.1936G>T (p.Glu646Ter)
n.3084G>T
c.196G>T (p.Glu66Ter)
n.2715G>T
1g.235806603C>GCA344956802LYSTc.2533G>C (p.Glu845Gln)
c.1936G>C (p.Glu646Gln)
n.3084G>C
c.196G>C (p.Glu66Gln)
n.2715G>C
1g.235806603C>TCA344956799LYSTc.2533G>A (p.Glu845Lys)
c.1936G>A (p.Glu646Lys)
n.3084G>A
c.196G>A (p.Glu66Lys)
n.2715G>A
1g.235806604A=CA2486650242LYSTc.2532T= (p.Ile844=)
c.1935T= (p.Ile645=)
n.3083T=
c.195T= (p.Ile65=)
n.2714T=
1g.235806604A>CCA344956804LYSTc.2532T>G (p.Ile844Met)
c.1935T>G (p.Ile645Met)
n.3083T>G
c.195T>G (p.Ile65Met)
n.2714T>G
1g.235806604A>GCA424027576LYSTc.2532T>C (p.Ile844=)
c.1935T>C (p.Ile645=)
n.3083T>C
c.195T>C (p.Ile65=)
n.2714T>C
 dbSNP gnomAD v3 gnomAD v4
1g.235806604A>TCA424027575LYSTc.2532T>A (p.Ile844=)
c.1935T>A (p.Ile645=)
n.3083T>A
c.195T>A (p.Ile65=)
n.2714T>A
1g.235806605A=CA2486650243LYSTc.2531T= (p.Ile844=)
c.1934T= (p.Ile645=)
n.3082T=
c.194T= (p.Ile65=)
n.2713T=
1g.235806605A>CCA344956806LYSTc.2531T>G (p.Ile844Ser)
c.1934T>G (p.Ile645Ser)
n.3082T>G
c.194T>G (p.Ile65Ser)
n.2713T>G
 ClinVar
1g.235806605A>GCA344956808LYSTc.2531T>C (p.Ile844Thr)
c.1934T>C (p.Ile645Thr)
n.3082T>C
c.194T>C (p.Ile65Thr)
n.2713T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806605A>TCA344956809LYSTc.2531T>A (p.Ile844Asn)
c.1934T>A (p.Ile645Asn)
n.3082T>A
c.194T>A (p.Ile65Asn)
n.2713T>A
1g.235806606T>ACA344956813LYSTc.2530A>T (p.Ile844Phe)
c.1933A>T (p.Ile645Phe)
n.3081A>T
c.193A>T (p.Ile65Phe)
n.2712A>T
1g.235806606T>CCA344956815LYSTc.2530A>G (p.Ile844Val)
c.1933A>G (p.Ile645Val)
n.3081A>G
c.193A>G (p.Ile65Val)
n.2712A>G
1g.235806606T>GCA344956817LYSTc.2530A>C (p.Ile844Leu)
c.1933A>C (p.Ile645Leu)
n.3081A>C
c.193A>C (p.Ile65Leu)
n.2712A>C
1g.235806607G>ACA424027577LYSTc.2529C>T (p.Asp843=)
c.1932C>T (p.Asp644=)
n.3080C>T
c.192C>T (p.Asp64=)
n.2711C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806607G>CCA344956819LYSTc.2529C>G (p.Asp843Glu)
c.1932C>G (p.Asp644Glu)
n.3080C>G
c.192C>G (p.Asp64Glu)
n.2711C>G
 gnomAD v4 COSMIC
1g.235806607G=CA2486650244LYSTc.2529C= (p.Asp843=)
c.1932C= (p.Asp644=)
n.3080C=
c.192C= (p.Asp64=)
n.2711C=
1g.235806607G>TCA344956821LYSTc.2529C>A (p.Asp843Glu)
c.1932C>A (p.Asp644Glu)
n.3080C>A
c.192C>A (p.Asp64Glu)
n.2711C>A
1g.235806608T>ACA344956824LYSTc.2528A>T (p.Asp843Val)
c.1931A>T (p.Asp644Val)
n.3079A>T
c.191A>T (p.Asp64Val)
n.2710A>T
1g.235806608T>CCA344956825LYSTc.2528A>G (p.Asp843Gly)
c.1931A>G (p.Asp644Gly)
n.3079A>G
c.191A>G (p.Asp64Gly)
n.2710A>G
1g.235806608T>GCA344956828LYSTc.2528A>C (p.Asp843Ala)
c.1931A>C (p.Asp644Ala)
n.3079A>C
c.191A>C (p.Asp64Ala)
n.2710A>C
1g.235806609C>ACA344956833LYSTc.2527G>T (p.Asp843Tyr)
c.1930G>T (p.Asp644Tyr)
n.3078G>T
c.190G>T (p.Asp64Tyr)
n.2709G>T
1g.235806609C>GCA344956830LYSTc.2527G>C (p.Asp843His)
c.1930G>C (p.Asp644His)
n.3078G>C
c.190G>C (p.Asp64His)
n.2709G>C
1g.235806609C>TCA344956832LYSTc.2527G>A (p.Asp843Asn)
c.1930G>A (p.Asp644Asn)
n.3078G>A
c.190G>A (p.Asp64Asn)
n.2709G>A
1g.235806610T>ACA424027578LYSTc.2526A>T (p.Ile842=)
c.1929A>T (p.Ile643=)
n.3077A>T
c.189A>T (p.Ile63=)
n.2708A>T
1g.235806610T>CCA344956836LYSTc.2526A>G (p.Ile842Met)
c.1929A>G (p.Ile643Met)
n.3077A>G
c.189A>G (p.Ile63Met)
n.2708A>G
1g.235806610T>GCA424027579LYSTc.2526A>C (p.Ile842=)
c.1929A>C (p.Ile643=)
n.3077A>C
c.189A>C (p.Ile63=)
n.2708A>C
1g.235806611A=CA2486650245LYSTc.2525T= (p.Ile842=)
c.1928T= (p.Ile643=)
n.3076T=
c.188T= (p.Ile63=)
n.2707T=
1g.235806611A>CCA344956838LYSTc.2525T>G (p.Ile842Arg)
c.1928T>G (p.Ile643Arg)
n.3076T>G
c.188T>G (p.Ile63Arg)
n.2707T>G
1g.235806611A>GCA1467258LYSTc.2525T>C (p.Ile842Thr)
c.1928T>C (p.Ile643Thr)
n.3076T>C
c.188T>C (p.Ile63Thr)
n.2707T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806611A>TCA344956842LYSTc.2525T>A (p.Ile842Lys)
c.1928T>A (p.Ile643Lys)
n.3076T>A
c.188T>A (p.Ile63Lys)
n.2707T>A
1g.235806612T>ACA344956843LYSTc.2524A>T (p.Ile842Leu)
c.1927A>T (p.Ile643Leu)
n.3075A>T
c.187A>T (p.Ile63Leu)
n.2706A>T
1g.235806612T>CCA344956845LYSTc.2524A>G (p.Ile842Val)
c.1927A>G (p.Ile643Val)
n.3075A>G
c.187A>G (p.Ile63Val)
n.2706A>G
1g.235806612T>GCA344956847LYSTc.2524A>C (p.Ile842Leu)
c.1927A>C (p.Ile643Leu)
n.3075A>C
c.187A>C (p.Ile63Leu)
n.2706A>C
 dbSNP
1g.235806612T=CA2486650246LYSTc.2524A= (p.Ile842=)
c.1927A= (p.Ile643=)
n.3075A=
c.187A= (p.Ile63=)
n.2706A=
1g.235806613C>ACA424027580LYSTc.2523G>T (p.Gly841=)
c.1926G>T (p.Gly642=)
n.3074G>T
c.186G>T (p.Gly62=)
n.2705G>T
1g.235806613C=CA2486650247LYSTc.2523G= (p.Gly841=)
c.1926G= (p.Gly642=)
n.3074G=
c.186G= (p.Gly62=)
n.2705G=
1g.235806613C>GCA424027581LYSTc.2523G>C (p.Gly841=)
c.1926G>C (p.Gly642=)
n.3074G>C
c.186G>C (p.Gly62=)
n.2705G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.235806613C>TCA424027582LYSTc.2523G>A (p.Gly841=)
c.1926G>A (p.Gly642=)
n.3074G>A
c.186G>A (p.Gly62=)
n.2705G>A
 ClinVar
1g.235806614C>ACA344956849LYSTc.2522G>T (p.Gly841Val)
c.1925G>T (p.Gly642Val)
n.3073G>T
c.185G>T (p.Gly62Val)
n.2704G>T
1g.235806614C=CA2486650248LYSTc.2522G= (p.Gly841=)
c.1925G= (p.Gly642=)
n.3073G=
c.185G= (p.Gly62=)
n.2704G=
1g.235806614C>GCA344956851LYSTc.2522G>C (p.Gly841Ala)
c.1925G>C (p.Gly642Ala)
n.3073G>C
c.185G>C (p.Gly62Ala)
n.2704G>C
1g.235806614C>TCA344956853LYSTc.2522G>A (p.Gly841Glu)
c.1925G>A (p.Gly642Glu)
n.3073G>A
c.185G>A (p.Gly62Glu)
n.2704G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806615C>ACA344956859LYSTc.2521G>T (p.Gly841Trp)
c.1924G>T (p.Gly642Trp)
n.3072G>T
c.184G>T (p.Gly62Trp)
n.2703G>T
1g.235806615C=CA2486650249LYSTc.2521G= (p.Gly841=)
c.1924G= (p.Gly642=)
n.3072G=
c.184G= (p.Gly62=)
n.2703G=
1g.235806615C>GCA1467259LYSTc.2521G>C (p.Gly841Arg)
c.1924G>C (p.Gly642Arg)
n.3072G>C
c.184G>C (p.Gly62Arg)
n.2703G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806615C>TCA344956856LYSTc.2521G>A (p.Gly841Arg)
c.1924G>A (p.Gly642Arg)
n.3072G>A
c.184G>A (p.Gly62Arg)
n.2703G>A
1g.235806616A=CA2486650250LYSTc.2520T= (p.Asp840=)
c.1923T= (p.Asp641=)
n.3071T=
c.183T= (p.Asp61=)
n.2702T=
1g.235806616A>CCA344956861LYSTc.2520T>G (p.Asp840Glu)
c.1923T>G (p.Asp641Glu)
n.3071T>G
c.183T>G (p.Asp61Glu)
n.2702T>G
1g.235806616A>GCA424027583LYSTc.2520T>C (p.Asp840=)
c.1923T>C (p.Asp641=)
n.3071T>C
c.183T>C (p.Asp61=)
n.2702T>C
1g.235806616A>TCA1467260LYSTc.2520T>A (p.Asp840Glu)
c.1923T>A (p.Asp641Glu)
n.3071T>A
c.183T>A (p.Asp61Glu)
n.2702T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806617T>ACA344956866LYSTc.2519A>T (p.Asp840Val)
c.1922A>T (p.Asp641Val)
n.3070A>T
c.182A>T (p.Asp61Val)
n.2701A>T
1g.235806617T>CCA344956868LYSTc.2519A>G (p.Asp840Gly)
c.1922A>G (p.Asp641Gly)
n.3070A>G
c.182A>G (p.Asp61Gly)
n.2701A>G
 gnomAD v4
1g.235806617T>GCA344956870LYSTc.2519A>C (p.Asp840Ala)
c.1922A>C (p.Asp641Ala)
n.3070A>C
c.182A>C (p.Asp61Ala)
n.2701A>C
1g.235806618C>ACA344956872LYSTc.2518G>T (p.Asp840Tyr)
c.1921G>T (p.Asp641Tyr)
n.3069G>T
c.181G>T (p.Asp61Tyr)
n.2700G>T
1g.235806618C=CA2486650251LYSTc.2518G= (p.Asp840=)
c.1921G= (p.Asp641=)
n.3069G=
c.181G= (p.Asp61=)
n.2700G=
1g.235806618C>GCA344956873LYSTc.2518G>C (p.Asp840His)
c.1921G>C (p.Asp641His)
n.3069G>C
c.181G>C (p.Asp61His)
n.2700G>C
1g.235806618C>TCA1467261LYSTc.2518G>A (p.Asp840Asn)
c.1921G>A (p.Asp641Asn)
n.3069G>A
c.181G>A (p.Asp61Asn)
n.2700G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806619A=CA1141079812LYSTc.2517T= (p.Ile839=)
c.1920T= (p.Ile640=)
n.3068T=
c.180T= (p.Ile60=)
n.2699T=
1g.235806619A>CCA39616375LYSTc.2517T>G (p.Ile839Met)
c.1920T>G (p.Ile640Met)
n.3068T>G
c.180T>G (p.Ile60Met)
n.2699T>G
 dbSNP
1g.235806619A>GCA1467262LYSTc.2517T>C (p.Ile839=)
c.1920T>C (p.Ile640=)
n.3068T>C
c.180T>C (p.Ile60=)
n.2699T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806619A>TCA424027584LYSTc.2517T>A (p.Ile839=)
c.1920T>A (p.Ile640=)
n.3068T>A
c.180T>A (p.Ile60=)
n.2699T>A
1g.235806620A>CCA344956880LYSTc.2516T>G (p.Ile839Ser)
c.1919T>G (p.Ile640Ser)
n.3067T>G
c.179T>G (p.Ile60Ser)
n.2698T>G
1g.235806620A>GCA344956882LYSTc.2516T>C (p.Ile839Thr)
c.1919T>C (p.Ile640Thr)
n.3067T>C
c.179T>C (p.Ile60Thr)
n.2698T>C
1g.235806620A>TCA344956884LYSTc.2516T>A (p.Ile839Asn)
c.1919T>A (p.Ile640Asn)
n.3067T>A
c.179T>A (p.Ile60Asn)
n.2698T>A
1g.235806621T>ACA344956886LYSTc.2515A>T (p.Ile839Phe)
c.1918A>T (p.Ile640Phe)
n.3066A>T
c.178A>T (p.Ile60Phe)
n.2697A>T
1g.235806621T>CCA344956889LYSTc.2515A>G (p.Ile839Val)
c.1918A>G (p.Ile640Val)
n.3066A>G
c.178A>G (p.Ile60Val)
n.2697A>G
1g.235806621T>GCA344956888LYSTc.2515A>C (p.Ile839Leu)
c.1918A>C (p.Ile640Leu)
n.3066A>C
c.178A>C (p.Ile60Leu)
n.2697A>C
1g.235806622A=CA2486650252LYSTc.2514T= (p.Asp838=)
c.1917T= (p.Asp639=)
n.3065T=
c.177T= (p.Asp59=)
n.2696T=
1g.235806622A>CCA39616378LYSTc.2514T>G (p.Asp838Glu)
c.1917T>G (p.Asp639Glu)
n.3065T>G
c.177T>G (p.Asp59Glu)
n.2696T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806622A>GCA424027586LYSTc.2514T>C (p.Asp838=)
c.1917T>C (p.Asp639=)
n.3065T>C
c.177T>C (p.Asp59=)
n.2696T>C
1g.235806622A>TCA39616380LYSTc.2514T>A (p.Asp838Glu)
c.1917T>A (p.Asp639Glu)
n.3065T>A
c.177T>A (p.Asp59Glu)
n.2696T>A
 ClinVar dbSNP
1g.235806623T>ACA344956890LYSTc.2513A>T (p.Asp838Val)
c.1916A>T (p.Asp639Val)
n.3064A>T
c.176A>T (p.Asp59Val)
n.2695A>T
 dbSNP gnomAD v2 gnomAD v4
1g.235806623T>CCA344956891LYSTc.2513A>G (p.Asp838Gly)
c.1916A>G (p.Asp639Gly)
n.3064A>G
c.176A>G (p.Asp59Gly)
n.2695A>G
 dbSNP
1g.235806623T>GCA344956892LYSTc.2513A>C (p.Asp838Ala)
c.1916A>C (p.Asp639Ala)
n.3064A>C
c.176A>C (p.Asp59Ala)
n.2695A>C
1g.235806623T=CA2486650253LYSTc.2513A= (p.Asp838=)
c.1916A= (p.Asp639=)
n.3064A=
c.176A= (p.Asp59=)
n.2695A=
1g.235806624C>ACA344956894LYSTc.2512G>T (p.Asp838Tyr)
c.1915G>T (p.Asp639Tyr)
n.3063G>T
c.175G>T (p.Asp59Tyr)
n.2694G>T
1g.235806624C>GCA344956896LYSTc.2512G>C (p.Asp838His)
c.1915G>C (p.Asp639His)
n.3063G>C
c.175G>C (p.Asp59His)
n.2694G>C
1g.235806624C>TCA344956897LYSTc.2512G>A (p.Asp838Asn)
c.1915G>A (p.Asp639Asn)
n.3063G>A
c.175G>A (p.Asp59Asn)
n.2694G>A
 gnomAD v4
1g.235806625T>ACA424027594LYSTc.2511A>T (p.Pro837=)
c.1914A>T (p.Pro638=)
n.3062A>T
c.174A>T (p.Pro58=)
n.2693A>T
1g.235806625T>CCA39616383LYSTc.2511A>G (p.Pro837=)
c.1914A>G (p.Pro638=)
n.3062A>G
c.174A>G (p.Pro58=)
n.2693A>G
 dbSNP
1g.235806625T>GCA424027595LYSTc.2511A>C (p.Pro837=)
c.1914A>C (p.Pro638=)
n.3062A>C
c.174A>C (p.Pro58=)
n.2693A>C
1g.235806625T=CA2486650254LYSTc.2511A= (p.Pro837=)
c.1914A= (p.Pro638=)
n.3062A=
c.174A= (p.Pro58=)
n.2693A=
1g.235806626G>ACA344956899LYSTc.2510C>T (p.Pro837Leu)
c.1913C>T (p.Pro638Leu)
n.3061C>T
c.173C>T (p.Pro58Leu)
n.2692C>T
1g.235806626G>CCA344956901LYSTc.2510C>G (p.Pro837Arg)
c.1913C>G (p.Pro638Arg)
n.3061C>G
c.173C>G (p.Pro58Arg)
n.2692C>G
1g.235806626G>TCA344956903LYSTc.2510C>A (p.Pro837Gln)
c.1913C>A (p.Pro638Gln)
n.3061C>A
c.173C>A (p.Pro58Gln)
n.2692C>A
1g.235806627G>ACA344956909LYSTc.2509C>T (p.Pro837Ser)
c.1912C>T (p.Pro638Ser)
n.3060C>T
c.172C>T (p.Pro58Ser)
n.2691C>T
 COSMIC
1g.235806627G>CCA344956907LYSTc.2509C>G (p.Pro837Ala)
c.1912C>G (p.Pro638Ala)
n.3060C>G
c.172C>G (p.Pro58Ala)
n.2691C>G
 ClinVar
1g.235806627G>TCA344956904LYSTc.2509C>A (p.Pro837Thr)
c.1912C>A (p.Pro638Thr)
n.3060C>A
c.172C>A (p.Pro58Thr)
n.2691C>A
 gnomAD v4
1g.235806628A>CCA424027601LYSTc.2508T>G (p.Val836=)
c.1911T>G (p.Val637=)
n.3059T>G
c.171T>G (p.Val57=)
n.2690T>G
1g.235806628A>GCA424027605LYSTc.2508T>C (p.Val836=)
c.1911T>C (p.Val637=)
n.3059T>C
c.171T>C (p.Val57=)
n.2690T>C
1g.235806628A>TCA424027606LYSTc.2508T>A (p.Val836=)
c.1911T>A (p.Val637=)
n.3059T>A
c.171T>A (p.Val57=)
n.2690T>A
1g.235806629A>CCA344956915LYSTc.2507T>G (p.Val836Gly)
c.1910T>G (p.Val637Gly)
n.3058T>G
c.170T>G (p.Val57Gly)
n.2689T>G
1g.235806629A>GCA344956911LYSTc.2507T>C (p.Val836Ala)
c.1910T>C (p.Val637Ala)
n.3058T>C
c.170T>C (p.Val57Ala)
n.2689T>C
1g.235806629A>TCA344956913LYSTc.2507T>A (p.Val836Asp)
c.1910T>A (p.Val637Asp)
n.3058T>A
c.170T>A (p.Val57Asp)
n.2689T>A
1g.235806630C>ACA344956916LYSTc.2506G>T (p.Val836Phe)
c.1909G>T (p.Val637Phe)
n.3057G>T
c.169G>T (p.Val57Phe)
n.2688G>T
1g.235806630C>GCA344956918LYSTc.2506G>C (p.Val836Leu)
c.1909G>C (p.Val637Leu)
n.3057G>C
c.169G>C (p.Val57Leu)
n.2688G>C
1g.235806630C>TCA344956920LYSTc.2506G>A (p.Val836Ile)
c.1909G>A (p.Val637Ile)
n.3057G>A
c.169G>A (p.Val57Ile)
n.2688G>A
 COSMIC
1g.235806631T>ACA424027608LYSTc.2505A>T (p.Ser835=)
c.1908A>T (p.Ser636=)
n.3056A>T
c.168A>T (p.Ser56=)
n.2687A>T
1g.235806631T>CCA424027610LYSTc.2505A>G (p.Ser835=)
c.1908A>G (p.Ser636=)
n.3056A>G
c.168A>G (p.Ser56=)
n.2687A>G
 ClinVar
1g.235806631T>GCA424027609LYSTc.2505A>C (p.Ser835=)
c.1908A>C (p.Ser636=)
n.3056A>C
c.168A>C (p.Ser56=)
n.2687A>C
1g.235806632G>ACA344956922LYSTc.2504C>T (p.Ser835Leu)
c.1907C>T (p.Ser636Leu)
n.3055C>T
c.167C>T (p.Ser56Leu)
n.2686C>T
1g.235806632G>CCA344956924LYSTc.2504C>G (p.Ser835Ter)
c.1907C>G (p.Ser636Ter)
n.3055C>G
c.167C>G (p.Ser56Ter)
n.2686C>G
1g.235806632G>TCA344956926LYSTc.2504C>A (p.Ser835Ter)
c.1907C>A (p.Ser636Ter)
n.3055C>A
c.167C>A (p.Ser56Ter)
n.2686C>A
1g.235806633A>CCA344956928LYSTc.2503T>G (p.Ser835Ala)
c.1906T>G (p.Ser636Ala)
n.3054T>G
c.166T>G (p.Ser56Ala)
n.2685T>G
1g.235806633A>GCA344956932LYSTc.2503T>C (p.Ser835Pro)
c.1906T>C (p.Ser636Pro)
n.3054T>C
c.166T>C (p.Ser56Pro)
n.2685T>C
1g.235806633A>TCA344956930LYSTc.2503T>A (p.Ser835Thr)
c.1906T>A (p.Ser636Thr)
n.3054T>A
c.166T>A (p.Ser56Thr)
n.2685T>A
1g.235806634G>ACA1467263LYSTc.2502C>T (p.Ala834=)
c.1905C>T (p.Ala635=)
n.3053C>T
c.165C>T (p.Ala55=)
n.2684C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806634G>CCA424027617LYSTc.2502C>G (p.Ala834=)
c.1905C>G (p.Ala635=)
n.3053C>G
c.165C>G (p.Ala55=)
n.2684C>G
 dbSNP gnomAD v3 gnomAD v4
1g.235806634G=CA2486650255LYSTc.2502C= (p.Ala834=)
c.1905C= (p.Ala635=)
n.3053C=
c.165C= (p.Ala55=)
n.2684C=
1g.235806634G>TCA424027619LYSTc.2502C>A (p.Ala834=)
c.1905C>A (p.Ala635=)
n.3053C>A
c.165C>A (p.Ala55=)
n.2684C>A
1g.235806635G>ACA344956936LYSTc.2501C>T (p.Ala834Val)
c.1904C>T (p.Ala635Val)
n.3052C>T
c.164C>T (p.Ala55Val)
n.2683C>T
 dbSNP
1g.235806635G>CCA344956938LYSTc.2501C>G (p.Ala834Gly)
c.1904C>G (p.Ala635Gly)
n.3052C>G
c.164C>G (p.Ala55Gly)
n.2683C>G
1g.235806635G=CA2486650256LYSTc.2501C= (p.Ala834=)
c.1904C= (p.Ala635=)
n.3052C=
c.164C= (p.Ala55=)
n.2683C=
1g.235806635G>TCA344956940LYSTc.2501C>A (p.Ala834Asp)
c.1904C>A (p.Ala635Asp)
n.3052C>A
c.164C>A (p.Ala55Asp)
n.2683C>A
1g.235806636C>ACA344956942LYSTc.2500G>T (p.Ala834Ser)
c.1903G>T (p.Ala635Ser)
n.3051G>T
c.163G>T (p.Ala55Ser)
n.2682G>T
 gnomAD v4
1g.235806636C=CA2486650257LYSTc.2500G= (p.Ala834=)
c.1903G= (p.Ala635=)
n.3051G=
c.163G= (p.Ala55=)
n.2682G=
1g.235806636C>GCA344956946LYSTc.2500G>C (p.Ala834Pro)
c.1903G>C (p.Ala635Pro)
n.3051G>C
c.163G>C (p.Ala55Pro)
n.2682G>C
1g.235806636C>TCA344956944LYSTc.2500G>A (p.Ala834Thr)
c.1903G>A (p.Ala635Thr)
n.3051G>A
c.163G>A (p.Ala55Thr)
n.2682G>A
 dbSNP gnomAD v2 gnomAD v4
1g.235806637A=CA2486650258LYSTc.2499T= (p.Asp833=)
c.1902T= (p.Asp634=)
n.3050T=
c.162T= (p.Asp54=)
n.2681T=
1g.235806637A>CCA344956949LYSTc.2499T>G (p.Asp833Glu)
c.1902T>G (p.Asp634Glu)
n.3050T>G
c.162T>G (p.Asp54Glu)
n.2681T>G
1g.235806637A>GCA1467264LYSTc.2499T>C (p.Asp833=)
c.1902T>C (p.Asp634=)
n.3050T>C
c.162T>C (p.Asp54=)
n.2681T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806637A>TCA344956952LYSTc.2499T>A (p.Asp833Glu)
c.1902T>A (p.Asp634Glu)
n.3050T>A
c.162T>A (p.Asp54Glu)
n.2681T>A
1g.235806638T>ACA344956954LYSTc.2498A>T (p.Asp833Val)
c.1901A>T (p.Asp634Val)
n.3049A>T
c.161A>T (p.Asp54Val)
n.2680A>T
1g.235806638T>CCA344956956LYSTc.2498A>G (p.Asp833Gly)
c.1901A>G (p.Asp634Gly)
n.3049A>G
c.161A>G (p.Asp54Gly)
n.2680A>G
 dbSNP gnomAD v2 gnomAD v4
1g.235806638T>GCA344956957LYSTc.2498A>C (p.Asp833Ala)
c.1901A>C (p.Asp634Ala)
n.3049A>C
c.161A>C (p.Asp54Ala)
n.2680A>C
1g.235806638T=CA2486650259LYSTc.2498A= (p.Asp833=)
c.1901A= (p.Asp634=)
n.3049A=
c.161A= (p.Asp54=)
n.2680A=
1g.235806639C>ACA344956959LYSTc.2497G>T (p.Asp833Tyr)
c.1900G>T (p.Asp634Tyr)
n.3048G>T
c.160G>T (p.Asp54Tyr)
n.2679G>T
 COSMIC
1g.235806639C>GCA344956960LYSTc.2497G>C (p.Asp833His)
c.1900G>C (p.Asp634His)
n.3048G>C
c.160G>C (p.Asp54His)
n.2679G>C
1g.235806639C>TCA344956962LYSTc.2497G>A (p.Asp833Asn)
c.1900G>A (p.Asp634Asn)
n.3048G>A
c.160G>A (p.Asp54Asn)
n.2679G>A
 gnomAD v4
1g.235806640T>ACA344956964LYSTc.2496A>T (p.Lys832Asn)
c.1899A>T (p.Lys633Asn)
n.3047A>T
c.159A>T (p.Lys53Asn)
n.2678A>T
1g.235806640T>CCA1467265LYSTc.2496A>G (p.Lys832=)
c.1899A>G (p.Lys633=)
n.3047A>G
c.159A>G (p.Lys53=)
n.2678A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806640T>GCA344956966LYSTc.2496A>C (p.Lys832Asn)
c.1899A>C (p.Lys633Asn)
n.3047A>C
c.159A>C (p.Lys53Asn)
n.2678A>C
1g.235806640T=CA1146821198LYSTc.2496A= (p.Lys832=)
c.1899A= (p.Lys633=)
n.3047A=
c.159A= (p.Lys53=)
n.2678A=
1g.235806641T>ACA344956969LYSTc.2495A>T (p.Lys832Ile)
c.1898A>T (p.Lys633Ile)
n.3046A>T
c.158A>T (p.Lys53Ile)
n.2677A>T
1g.235806641T>CCA344956972LYSTc.2495A>G (p.Lys832Arg)
c.1898A>G (p.Lys633Arg)
n.3046A>G
c.158A>G (p.Lys53Arg)
n.2677A>G
1g.235806641T>GCA344956970LYSTc.2495A>C (p.Lys832Thr)
c.1898A>C (p.Lys633Thr)
n.3046A>C
c.158A>C (p.Lys53Thr)
n.2677A>C
 dbSNP gnomAD v2 gnomAD v4
1g.235806641T=CA2486650260LYSTc.2495A= (p.Lys832=)
c.1898A= (p.Lys633=)
n.3046A=
c.158A= (p.Lys53=)
n.2677A=
1g.235806642T>ACA344956975LYSTc.2494A>T (p.Lys832Ter)
c.1897A>T (p.Lys633Ter)
n.3045A>T
c.157A>T (p.Lys53Ter)
n.2676A>T
1g.235806642T>CCA344956978LYSTc.2494A>G (p.Lys832Glu)
c.1897A>G (p.Lys633Glu)
n.3045A>G
c.157A>G (p.Lys53Glu)
n.2676A>G
 dbSNP gnomAD v3 gnomAD v4
1g.235806642T>GCA344956980LYSTc.2494A>C (p.Lys832Gln)
c.1897A>C (p.Lys633Gln)
n.3045A>C
c.157A>C (p.Lys53Gln)
n.2676A>C
1g.235806642T=CA2486650261LYSTc.2494A= (p.Lys832=)
c.1897A= (p.Lys633=)
n.3045A=
c.157A= (p.Lys53=)
n.2676A=
1g.235806643C>ACA344956982LYSTc.2493G>T (p.Gln831His)
c.1896G>T (p.Gln632His)
n.3044G>T
c.156G>T (p.Gln52His)
n.2675G>T
1g.235806643C>GCA344956984LYSTc.2493G>C (p.Gln831His)
c.1896G>C (p.Gln632His)
n.3044G>C
c.156G>C (p.Gln52His)
n.2675G>C
1g.235806643C>TCA424027639LYSTc.2493G>A (p.Gln831=)
c.1896G>A (p.Gln632=)
n.3044G>A
c.156G>A (p.Gln52=)
n.2675G>A
 gnomAD v4
1g.235806644T>ACA344956985LYSTc.2492A>T (p.Gln831Leu)
c.1895A>T (p.Gln632Leu)
n.3043A>T
c.155A>T (p.Gln52Leu)
n.2674A>T
1g.235806644T>CCA344956987LYSTc.2492A>G (p.Gln831Arg)
c.1895A>G (p.Gln632Arg)
n.3043A>G
c.155A>G (p.Gln52Arg)
n.2674A>G
 dbSNP
1g.235806644T>GCA344956989LYSTc.2492A>C (p.Gln831Pro)
c.1895A>C (p.Gln632Pro)
n.3043A>C
c.155A>C (p.Gln52Pro)
n.2674A>C
1g.235806644T=CA2486650262LYSTc.2492A= (p.Gln831=)
c.1895A= (p.Gln632=)
n.3043A=
c.155A= (p.Gln52=)
n.2674A=
1g.235806645_235806646delCA2651137532LYSTc.2491_2492del (p.Gln831GlufsTer9)
c.1894_1895del (p.Gln632GlufsTer9)
n.3042_3043del
c.154_155del (p.Gln52GlufsTer9)
n.2673_2674del
 gnomAD v4
1g.235806645G>ACA344956990LYSTc.2491C>T (p.Gln831Ter)
c.1894C>T (p.Gln632Ter)
n.3042C>T
c.154C>T (p.Gln52Ter)
n.2673C>T
 gnomAD v4
1g.235806645G>CCA344956991LYSTc.2491C>G (p.Gln831Glu)
c.1894C>G (p.Gln632Glu)
n.3042C>G
c.154C>G (p.Gln52Glu)
n.2673C>G
1g.235806645G>TCA344956992LYSTc.2491C>A (p.Gln831Lys)
c.1894C>A (p.Gln632Lys)
n.3042C>A
c.154C>A (p.Gln52Lys)
n.2673C>A
1g.235806646T>ACA344956994LYSTc.2490A>T (p.Gln830His)
c.1893A>T (p.Gln631His)
n.3041A>T
c.153A>T (p.Gln51His)
n.2672A>T
1g.235806646T>CCA424027647LYSTc.2490A>G (p.Gln830=)
c.1893A>G (p.Gln631=)
n.3041A>G
c.153A>G (p.Gln51=)
n.2672A>G
1g.235806646T>GCA344956996LYSTc.2490A>C (p.Gln830His)
c.1893A>C (p.Gln631His)
n.3041A>C
c.153A>C (p.Gln51His)
n.2672A>C
1g.235806647T>ACA344957002LYSTc.2489A>T (p.Gln830Leu)
c.1892A>T (p.Gln631Leu)
n.3040A>T
c.152A>T (p.Gln51Leu)
n.2671A>T
1g.235806647T>CCA344956998LYSTc.2489A>G (p.Gln830Arg)
c.1892A>G (p.Gln631Arg)
n.3040A>G
c.152A>G (p.Gln51Arg)
n.2671A>G
1g.235806647T>GCA344957000LYSTc.2489A>C (p.Gln830Pro)
c.1892A>C (p.Gln631Pro)
n.3040A>C
c.152A>C (p.Gln51Pro)
n.2671A>C
1g.235806648G>ACA344957004LYSTc.2488C>T (p.Gln830Ter)
c.1891C>T (p.Gln631Ter)
n.3039C>T
c.151C>T (p.Gln51Ter)
n.2670C>T
1g.235806648G>CCA344957006LYSTc.2488C>G (p.Gln830Glu)
c.1891C>G (p.Gln631Glu)
n.3039C>G
c.151C>G (p.Gln51Glu)
n.2670C>G
 gnomAD v4
1g.235806648G>TCA344957007LYSTc.2488C>A (p.Gln830Lys)
c.1891C>A (p.Gln631Lys)
n.3039C>A
c.151C>A (p.Gln51Lys)
n.2670C>A
1g.235806649C>ACA344957009LYSTc.2487G>T (p.Glu829Asp)
c.1890G>T (p.Glu630Asp)
n.3038G>T
c.150G>T (p.Glu50Asp)
n.2669G>T
1g.235806649C=CA2486650263LYSTc.2487G= (p.Glu829=)
c.1890G= (p.Glu630=)
n.3038G=
c.150G= (p.Glu50=)
n.2669G=
1g.235806649C>GCA344957011LYSTc.2487G>C (p.Glu829Asp)
c.1890G>C (p.Glu630Asp)
n.3038G>C
c.150G>C (p.Glu50Asp)
n.2669G>C
1g.235806649C>TCA1467266LYSTc.2487G>A (p.Glu829=)
c.1890G>A (p.Glu630=)
n.3038G>A
c.150G>A (p.Glu50=)
n.2669G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806650T>ACA344957015LYSTc.2486A>T (p.Glu829Val)
c.1889A>T (p.Glu630Val)
n.3037A>T
c.149A>T (p.Glu50Val)
n.2668A>T
1g.235806650T>CCA344957016LYSTc.2486A>G (p.Glu829Gly)
c.1889A>G (p.Glu630Gly)
n.3037A>G
c.149A>G (p.Glu50Gly)
n.2668A>G
1g.235806650T>GCA344957017LYSTc.2486A>C (p.Glu829Ala)
c.1889A>C (p.Glu630Ala)
n.3037A>C
c.149A>C (p.Glu50Ala)
n.2668A>C
1g.235806651C>ACA344957020LYSTc.2485G>T (p.Glu829Ter)
c.1888G>T (p.Glu630Ter)
n.3036G>T
c.148G>T (p.Glu50Ter)
n.2667G>T
1g.235806651C>GCA344957022LYSTc.2485G>C (p.Glu829Gln)
c.1888G>C (p.Glu630Gln)
n.3036G>C
c.148G>C (p.Glu50Gln)
n.2667G>C
 gnomAD v4
1g.235806651C>TCA344957024LYSTc.2485G>A (p.Glu829Lys)
c.1888G>A (p.Glu630Lys)
n.3036G>A
c.148G>A (p.Glu50Lys)
n.2667G>A
1g.235806652C>ACA424027655LYSTc.2484G>T (p.Gly828=)
c.1887G>T (p.Gly629=)
n.3035G>T
c.147G>T (p.Gly49=)
n.2666G>T
1g.235806652C>GCA424027656LYSTc.2484G>C (p.Gly828=)
c.1887G>C (p.Gly629=)
n.3035G>C
c.147G>C (p.Gly49=)
n.2666G>C
1g.235806652C>TCA424027657LYSTc.2484G>A (p.Gly828=)
c.1887G>A (p.Gly629=)
n.3035G>A
c.147G>A (p.Gly49=)
n.2666G>A
 ClinVar gnomAD v4
1g.235806653C>ACA344957030LYSTc.2483G>T (p.Gly828Val)
c.1886G>T (p.Gly629Val)
n.3034G>T
c.146G>T (p.Gly49Val)
n.2665G>T
1g.235806653C=CA2486650264LYSTc.2483G= (p.Gly828=)
c.1886G= (p.Gly629=)
n.3034G=
c.146G= (p.Gly49=)
n.2665G=
1g.235806653C>GCA344957029LYSTc.2483G>C (p.Gly828Ala)
c.1886G>C (p.Gly629Ala)
n.3034G>C
c.146G>C (p.Gly49Ala)
n.2665G>C
1g.235806653C>TCA344957026LYSTc.2483G>A (p.Gly828Glu)
c.1886G>A (p.Gly629Glu)
n.3034G>A
c.146G>A (p.Gly49Glu)
n.2665G>A
 dbSNP gnomAD v4
1g.235806654C>ACA344957033LYSTc.2482G>T (p.Gly828Trp)
c.1885G>T (p.Gly629Trp)
n.3033G>T
c.145G>T (p.Gly49Trp)
n.2664G>T
1g.235806654C=CA2486650265LYSTc.2482G= (p.Gly828=)
c.1885G= (p.Gly629=)
n.3033G=
c.145G= (p.Gly49=)
n.2664G=
1g.235806654C>GCA344957036LYSTc.2482G>C (p.Gly828Arg)
c.1885G>C (p.Gly629Arg)
n.3033G>C
c.145G>C (p.Gly49Arg)
n.2664G>C
1g.235806654C>TCA344957034LYSTc.2482G>A (p.Gly828Arg)
c.1885G>A (p.Gly629Arg)
n.3033G>A
c.145G>A (p.Gly49Arg)
n.2664G>A
 dbSNP gnomAD v3 gnomAD v4
1g.235806655T>ACA424027662LYSTc.2481A>T (p.Leu827=)
c.1884A>T (p.Leu628=)
n.3032A>T
c.144A>T (p.Leu48=)
n.2663A>T
1g.235806655T>CCA1467267LYSTc.2481A>G (p.Leu827=)
c.1884A>G (p.Leu628=)
n.3032A>G
c.144A>G (p.Leu48=)
n.2663A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806655T>GCA424027663LYSTc.2481A>C (p.Leu827=)
c.1884A>C (p.Leu628=)
n.3032A>C
c.144A>C (p.Leu48=)
n.2663A>C
1g.235806655T=CA2486650266LYSTc.2481A= (p.Leu827=)
c.1884A= (p.Leu628=)
n.3032A=
c.144A= (p.Leu48=)
n.2663A=
1g.235806656A=CA1142908835LYSTc.2480T= (p.Leu827=)
c.1883T= (p.Leu628=)
n.3031T=
c.143T= (p.Leu48=)
n.2662T=
1g.235806656A>CCA344957042LYSTc.2480T>G (p.Leu827Arg)
c.1883T>G (p.Leu628Arg)
n.3031T>G
c.143T>G (p.Leu48Arg)
n.2662T>G
1g.235806656A>GCA344957044LYSTc.2480T>C (p.Leu827Pro)
c.1883T>C (p.Leu628Pro)
n.3031T>C
c.143T>C (p.Leu48Pro)
n.2662T>C
 gnomAD v4
1g.235806656A>TCA1467268LYSTc.2480T>A (p.Leu827Gln)
c.1883T>A (p.Leu628Gln)
n.3031T>A
c.143T>A (p.Leu48Gln)
n.2662T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806657G>ACA424027668LYSTc.2479C>T (p.Leu827=)
c.1882C>T (p.Leu628=)
n.3030C>T
c.142C>T (p.Leu48=)
n.2661C>T
1g.235806657G>CCA344957047LYSTc.2479C>G (p.Leu827Val)
c.1882C>G (p.Leu628Val)
n.3030C>G
c.142C>G (p.Leu48Val)
n.2661C>G
 dbSNP gnomAD v3 gnomAD v4
1g.235806657G=CA2486650267LYSTc.2479C= (p.Leu827=)
c.1882C= (p.Leu628=)
n.3030C=
c.142C= (p.Leu48=)
n.2661C=
1g.235806657G>TCA344957048LYSTc.2479C>A (p.Leu827Ile)
c.1882C>A (p.Leu628Ile)
n.3030C>A
c.142C>A (p.Leu48Ile)
n.2661C>A
1g.235806658G>ACA424027669LYSTc.2478C>T (p.Ser826=)
c.1881C>T (p.Ser627=)
n.3029C>T
c.141C>T (p.Ser47=)
n.2660C>T
 ClinVar
1g.235806658G>CCA344957050LYSTc.2478C>G (p.Ser826Arg)
c.1881C>G (p.Ser627Arg)
n.3029C>G
c.141C>G (p.Ser47Arg)
n.2660C>G
 ClinVar
1g.235806658G>TCA344957052LYSTc.2478C>A (p.Ser826Arg)
c.1881C>A (p.Ser627Arg)
n.3029C>A
c.141C>A (p.Ser47Arg)
n.2660C>A
1g.235806659C>ACA344957055LYSTc.2477G>T (p.Ser826Ile)
c.1880G>T (p.Ser627Ile)
n.3028G>T
c.140G>T (p.Ser47Ile)
n.2659G>T
1g.235806659C>GCA344957056LYSTc.2477G>C (p.Ser826Thr)
c.1880G>C (p.Ser627Thr)
n.3028G>C
c.140G>C (p.Ser47Thr)
n.2659G>C
1g.235806659C>TCA344957058LYSTc.2477G>A (p.Ser826Asn)
c.1880G>A (p.Ser627Asn)
n.3028G>A
c.140G>A (p.Ser47Asn)
n.2659G>A
 COSMIC
1g.235806660T>ACA344957064LYSTc.2476A>T (p.Ser826Cys)
c.1879A>T (p.Ser627Cys)
n.3027A>T
c.139A>T (p.Ser47Cys)
n.2658A>T
1g.235806660T>CCA344957066LYSTc.2476A>G (p.Ser826Gly)
c.1879A>G (p.Ser627Gly)
n.3027A>G
c.139A>G (p.Ser47Gly)
n.2658A>G
1g.235806660T>GCA344957067LYSTc.2476A>C (p.Ser826Arg)
c.1879A>C (p.Ser627Arg)
n.3027A>C
c.139A>C (p.Ser47Arg)
n.2658A>C
1g.235806661G>ACA424027677LYSTc.2475C>T (p.Ile825=)
c.1878C>T (p.Ile626=)
n.3026C>T
c.138C>T (p.Ile46=)
n.2657C>T
1g.235806661G>CCA344957069LYSTc.2475C>G (p.Ile825Met)
c.1878C>G (p.Ile626Met)
n.3026C>G
c.138C>G (p.Ile46Met)
n.2657C>G
1g.235806661G=CA2486650268LYSTc.2475C= (p.Ile825=)
c.1878C= (p.Ile626=)
n.3026C=
c.138C= (p.Ile46=)
n.2657C=
1g.235806661G>TCA424027675LYSTc.2475C>A (p.Ile825=)
c.1878C>A (p.Ile626=)
n.3026C>A
c.138C>A (p.Ile46=)
n.2657C>A
 dbSNP gnomAD v2 gnomAD v4
1g.235806662A=CA2486650269LYSTc.2474T= (p.Ile825=)
c.1877T= (p.Ile626=)
n.3025T=
c.137T= (p.Ile46=)
n.2656T=
1g.235806662A>CCA344957073LYSTc.2474T>G (p.Ile825Ser)
c.1877T>G (p.Ile626Ser)
n.3025T>G
c.137T>G (p.Ile46Ser)
n.2656T>G
1g.235806662A>GCA1467269LYSTc.2474T>C (p.Ile825Thr)
c.1877T>C (p.Ile626Thr)
n.3025T>C
c.137T>C (p.Ile46Thr)
n.2656T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806662A>TCA344957076LYSTc.2474T>A (p.Ile825Asn)
c.1877T>A (p.Ile626Asn)
n.3025T>A
c.137T>A (p.Ile46Asn)
n.2656T>A
1g.235806663T>ACA344957077LYSTc.2473A>T (p.Ile825Phe)
c.1876A>T (p.Ile626Phe)
n.3024A>T
c.136A>T (p.Ile46Phe)
n.2655A>T
1g.235806663T>CCA344957079LYSTc.2473A>G (p.Ile825Val)
c.1876A>G (p.Ile626Val)
n.3024A>G
c.136A>G (p.Ile46Val)
n.2655A>G
 dbSNP
1g.235806663T>GCA344957081LYSTc.2473A>C (p.Ile825Leu)
c.1876A>C (p.Ile626Leu)
n.3024A>C
c.136A>C (p.Ile46Leu)
n.2655A>C
1g.235806664T>ACA424027683LYSTc.2472A>T (p.Ile824=)
c.1875A>T (p.Ile625=)
n.3023A>T
c.135A>T (p.Ile45=)
n.2654A>T
1g.235806664T>CCA344957083LYSTc.2472A>G (p.Ile824Met)
c.1875A>G (p.Ile625Met)
n.3023A>G
c.135A>G (p.Ile45Met)
n.2654A>G
 gnomAD v4
1g.235806664T>GCA424027685LYSTc.2472A>C (p.Ile824=)
c.1875A>C (p.Ile625=)
n.3023A>C
c.135A>C (p.Ile45=)
n.2654A>C
1g.235806665A=CA2486650270LYSTc.2471T= (p.Ile824=)
c.1874T= (p.Ile625=)
n.3022T=
c.134T= (p.Ile45=)
n.2653T=
1g.235806665A>CCA344957085LYSTc.2471T>G (p.Ile824Arg)
c.1874T>G (p.Ile625Arg)
n.3022T>G
c.134T>G (p.Ile45Arg)
n.2653T>G
1g.235806665A>GCA344957087LYSTc.2471T>C (p.Ile824Thr)
c.1874T>C (p.Ile625Thr)
n.3022T>C
c.134T>C (p.Ile45Thr)
n.2653T>C
 dbSNP
1g.235806665A>TCA344957089LYSTc.2471T>A (p.Ile824Lys)
c.1874T>A (p.Ile625Lys)
n.3022T>A
c.134T>A (p.Ile45Lys)
n.2653T>A
1g.235806666T>ACA344957090LYSTc.2470A>T (p.Ile824Leu)
c.1873A>T (p.Ile625Leu)
n.3021A>T
c.133A>T (p.Ile45Leu)
n.2652A>T
1g.235806666T>CCA344957092LYSTc.2470A>G (p.Ile824Val)
c.1873A>G (p.Ile625Val)
n.3021A>G
c.133A>G (p.Ile45Val)
n.2652A>G
 dbSNP gnomAD v3 gnomAD v4
1g.235806666T>GCA39616395LYSTc.2470A>C (p.Ile824Leu)
c.1873A>C (p.Ile625Leu)
n.3021A>C
c.133A>C (p.Ile45Leu)
n.2652A>C
 dbSNP
1g.235806666T=CA2486650271LYSTc.2470A= (p.Ile824=)
c.1873A= (p.Ile625=)
n.3021A=
c.133A= (p.Ile45=)
n.2652A=
1g.235806667C>ACA424027696LYSTc.2469G>T (p.Leu823=)
c.1872G>T (p.Leu624=)
n.3020G>T
c.132G>T (p.Leu44=)
n.2651G>T
1g.235806667C=CA2486650272LYSTc.2469G= (p.Leu823=)
c.1872G= (p.Leu624=)
n.3020G=
c.132G= (p.Leu44=)
n.2651G=
1g.235806667C>GCA424027694LYSTc.2469G>C (p.Leu823=)
c.1872G>C (p.Leu624=)
n.3020G>C
c.132G>C (p.Leu44=)
n.2651G>C
1g.235806667C>TCA424027690LYSTc.2469G>A (p.Leu823=)
c.1872G>A (p.Leu624=)
n.3020G>A
c.132G>A (p.Leu44=)
n.2651G>A
 ClinVar dbSNP
1g.235806668A>CCA344957095LYSTc.2468T>G (p.Leu823Arg)
c.1871T>G (p.Leu624Arg)
n.3019T>G
c.131T>G (p.Leu44Arg)
n.2650T>G
1g.235806668A>GCA344957099LYSTc.2468T>C (p.Leu823Pro)
c.1871T>C (p.Leu624Pro)
n.3019T>C
c.131T>C (p.Leu44Pro)
n.2650T>C
1g.235806668A>TCA344957097LYSTc.2468T>A (p.Leu823Gln)
c.1871T>A (p.Leu624Gln)
n.3019T>A
c.131T>A (p.Leu44Gln)
n.2650T>A
1g.235806670_235806671delCA2748227981LYSTc.2467_2468del (p.Leu823AspfsTer17)
c.1870_1871del (p.Leu624AspfsTer17)
n.3018_3019del
c.130_131del (p.Leu44AspfsTer17)
n.2649_2650del
1g.235806669G>ACA424027699LYSTc.2467C>T (p.Leu823=)
c.1870C>T (p.Leu624=)
n.3018C>T
c.130C>T (p.Leu44=)
n.2649C>T
1g.235806669G>CCA344957101LYSTc.2467C>G (p.Leu823Val)
c.1870C>G (p.Leu624Val)
n.3018C>G
c.130C>G (p.Leu44Val)
n.2649C>G
1g.235806669G>TCA344957103LYSTc.2467C>A (p.Leu823Met)
c.1870C>A (p.Leu624Met)
n.3018C>A
c.130C>A (p.Leu44Met)
n.2649C>A
1g.235806670A=CA2486650273LYSTc.2466T= (p.Thr822=)
c.1869T= (p.Thr623=)
n.3017T=
c.129T= (p.Thr43=)
n.2648T=
1g.235806670A>CCA424027702LYSTc.2466T>G (p.Thr822=)
c.1869T>G (p.Thr623=)
n.3017T>G
c.129T>G (p.Thr43=)
n.2648T>G
 ClinVar dbSNP gnomAD v4
1g.235806670A>GCA424027703LYSTc.2466T>C (p.Thr822=)
c.1869T>C (p.Thr623=)
n.3017T>C
c.129T>C (p.Thr43=)
n.2648T>C
1g.235806670A>TCA424027705LYSTc.2466T>A (p.Thr822=)
c.1869T>A (p.Thr623=)
n.3017T>A
c.129T>A (p.Thr43=)
n.2648T>A
1g.235806671G>ACA1467270LYSTc.2465C>T (p.Thr822Ile)
c.1868C>T (p.Thr623Ile)
n.3016C>T
c.128C>T (p.Thr43Ile)
n.2647C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806671G>CCA344957107LYSTc.2465C>G (p.Thr822Ser)
c.1868C>G (p.Thr623Ser)
n.3016C>G
c.128C>G (p.Thr43Ser)
n.2647C>G
1g.235806671G=CA1143372684LYSTc.2465C= (p.Thr822=)
c.1868C= (p.Thr623=)
n.3016C=
c.128C= (p.Thr43=)
n.2647C=
1g.235806671G>TCA344957109LYSTc.2465C>A (p.Thr822Asn)
c.1868C>A (p.Thr623Asn)
n.3016C>A
c.128C>A (p.Thr43Asn)
n.2647C>A
1g.235806672T>ACA344957111LYSTc.2464A>T (p.Thr822Ser)
c.1867A>T (p.Thr623Ser)
n.3015A>T
c.127A>T (p.Thr43Ser)
n.2646A>T
1g.235806672T>CCA344957112LYSTc.2464A>G (p.Thr822Ala)
c.1867A>G (p.Thr623Ala)
n.3015A>G
c.127A>G (p.Thr43Ala)
n.2646A>G
1g.235806672T>GCA344957114LYSTc.2464A>C (p.Thr822Pro)
c.1867A>C (p.Thr623Pro)
n.3015A>C
c.127A>C (p.Thr43Pro)
n.2646A>C
1g.235806673T>ACA344957115LYSTc.2463A>T (p.Glu821Asp)
c.1866A>T (p.Glu622Asp)
n.3014A>T
c.126A>T (p.Glu42Asp)
n.2645A>T
1g.235806673T>CCA39616400LYSTc.2463A>G (p.Glu821=)
c.1866A>G (p.Glu622=)
n.3014A>G
c.126A>G (p.Glu42=)
n.2645A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806673T>GCA344957118LYSTc.2463A>C (p.Glu821Asp)
c.1866A>C (p.Glu622Asp)
n.3014A>C
c.126A>C (p.Glu42Asp)
n.2645A>C
1g.235806673T=CA1147623610LYSTc.2463A= (p.Glu821=)
c.1866A= (p.Glu622=)
n.3014A=
c.126A= (p.Glu42=)
n.2645A=
1g.235806674T>ACA344957125LYSTc.2462A>T (p.Glu821Val)
c.1865A>T (p.Glu622Val)
n.3013A>T
c.125A>T (p.Glu42Val)
n.2644A>T
1g.235806674T>CCA344957124LYSTc.2462A>G (p.Glu821Gly)
c.1865A>G (p.Glu622Gly)
n.3013A>G
c.125A>G (p.Glu42Gly)
n.2644A>G
1g.235806674T>GCA344957122LYSTc.2462A>C (p.Glu821Ala)
c.1865A>C (p.Glu622Ala)
n.3013A>C
c.125A>C (p.Glu42Ala)
n.2644A>C
 gnomAD v4
1g.235806675C>ACA344957126LYSTc.2461G>T (p.Glu821Ter)
c.1864G>T (p.Glu622Ter)
n.3012G>T
c.124G>T (p.Glu42Ter)
n.2643G>T
1g.235806675C>GCA344957128LYSTc.2461G>C (p.Glu821Gln)
c.1864G>C (p.Glu622Gln)
n.3012G>C
c.124G>C (p.Glu42Gln)
n.2643G>C
1g.235806675C>TCA344957130LYSTc.2461G>A (p.Glu821Lys)
c.1864G>A (p.Glu622Lys)
n.3012G>A
c.124G>A (p.Glu42Lys)
n.2643G>A
1g.235806676A=CA1140562640LYSTc.2460T= (p.Phe820=)
c.1863T= (p.Phe621=)
n.3011T=
c.123T= (p.Phe41=)
n.2642T=
1g.235806676A>CCA1467271LYSTc.2460T>G (p.Phe820Leu)
c.1863T>G (p.Phe621Leu)
n.3011T>G
c.123T>G (p.Phe41Leu)
n.2642T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806676A>GCA424027716LYSTc.2460T>C (p.Phe820=)
c.1863T>C (p.Phe621=)
n.3011T>C
c.123T>C (p.Phe41=)
n.2642T>C
1g.235806676A>TCA344957133LYSTc.2460T>A (p.Phe820Leu)
c.1863T>A (p.Phe621Leu)
n.3011T>A
c.123T>A (p.Phe41Leu)
n.2642T>A
1g.235806677A>CCA344957135LYSTc.2459T>G (p.Phe820Cys)
c.1862T>G (p.Phe621Cys)
n.3010T>G
c.122T>G (p.Phe41Cys)
n.2641T>G
1g.235806677A>GCA344957137LYSTc.2459T>C (p.Phe820Ser)
c.1862T>C (p.Phe621Ser)
n.3010T>C
c.122T>C (p.Phe41Ser)
n.2641T>C
1g.235806677A>TCA344957139LYSTc.2459T>A (p.Phe820Tyr)
c.1862T>A (p.Phe621Tyr)
n.3010T>A
c.122T>A (p.Phe41Tyr)
n.2641T>A
1g.235806678A>CCA344957142LYSTc.2458T>G (p.Phe820Val)
c.1861T>G (p.Phe621Val)
n.3009T>G
c.121T>G (p.Phe41Val)
n.2640T>G
1g.235806678A>GCA344957144LYSTc.2458T>C (p.Phe820Leu)
c.1861T>C (p.Phe621Leu)
n.3009T>C
c.121T>C (p.Phe41Leu)
n.2640T>C
1g.235806678A>TCA344957145LYSTc.2458T>A (p.Phe820Ile)
c.1861T>A (p.Phe621Ile)
n.3009T>A
c.121T>A (p.Phe41Ile)
n.2640T>A
1g.235806679T>ACA424027725LYSTc.2457A>T (p.Ala819=)
c.1860A>T (p.Ala620=)
n.3008A>T
c.120A>T (p.Ala40=)
n.2639A>T
1g.235806679T>CCA39616404LYSTc.2457A>G (p.Ala819=)
c.1860A>G (p.Ala620=)
n.3008A>G
c.120A>G (p.Ala40=)
n.2639A>G
 dbSNP gnomAD v4
1g.235806679T>GCA424027727LYSTc.2457A>C (p.Ala819=)
c.1860A>C (p.Ala620=)
n.3008A>C
c.120A>C (p.Ala40=)
n.2639A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806679T=CA1143728931LYSTc.2457A= (p.Ala819=)
c.1860A= (p.Ala620=)
n.3008A=
c.120A= (p.Ala40=)
n.2639A=
1g.235806680G>ACA344957155LYSTc.2456C>T (p.Ala819Val)
c.1859C>T (p.Ala620Val)
n.3007C>T
c.119C>T (p.Ala40Val)
n.2638C>T
1g.235806680G>CCA344957149LYSTc.2456C>G (p.Ala819Gly)
c.1859C>G (p.Ala620Gly)
n.3007C>G
c.119C>G (p.Ala40Gly)
n.2638C>G
1g.235806680G>TCA344957147LYSTc.2456C>A (p.Ala819Glu)
c.1859C>A (p.Ala620Glu)
n.3007C>A
c.119C>A (p.Ala40Glu)
n.2638C>A
1g.235806681C>ACA344957159LYSTc.2455G>T (p.Ala819Ser)
c.1858G>T (p.Ala620Ser)
n.3006G>T
c.118G>T (p.Ala40Ser)
n.2637G>T
1g.235806681C=CA1141782553LYSTc.2455G= (p.Ala819=)
c.1858G= (p.Ala620=)
n.3006G=
c.118G= (p.Ala40=)
n.2637G=
1g.235806681C>GCA344957157LYSTc.2455G>C (p.Ala819Pro)
c.1858G>C (p.Ala620Pro)
n.3006G>C
c.118G>C (p.Ala40Pro)
n.2637G>C
1g.235806681C>TCA1467272LYSTc.2455G>A (p.Ala819Thr)
c.1858G>A (p.Ala620Thr)
n.3006G>A
c.118G>A (p.Ala40Thr)
n.2637G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806681_235806682delinsCTCA2486650274LYSTc.2454_2455delinsAG (p.Lys818=)
c.1857_1858delinsAG (p.Lys619=)
n.3005_3006delinsAG
c.117_118delinsAG (p.Lys39=)
n.2636_2637delinsAG
1g.235806682T>ACA344957162LYSTc.2454A>T (p.Lys818Asn)
c.1857A>T (p.Lys619Asn)
n.3005A>T
c.117A>T (p.Lys39Asn)
n.2636A>T
1g.235806682T>CCA424027732LYSTc.2454A>G (p.Lys818=)
c.1857A>G (p.Lys619=)
n.3005A>G
c.117A>G (p.Lys39=)
n.2636A>G
1g.235806682T>GCA344957164LYSTc.2454A>C (p.Lys818Asn)
c.1857A>C (p.Lys619Asn)
n.3005A>C
c.117A>C (p.Lys39Asn)
n.2636A>C
1g.235806682_235806685delinsTTTTCA1141188443LYSTc.2451_2454delinsAAAA (p.Leu817=)
c.1854_1857delinsAAAA (p.Leu618=)
n.3002_3005delinsAAAA
c.114_117delinsAAAA (p.Leu38=)
n.2633_2636delinsAAAA
1g.235806685delCA344845LYSTc.2454del (p.Ala819HisfsTer5)
c.1857del (p.Ala620HisfsTer5)
n.3005del
c.117del (p.Ala40HisfsTer5)
n.2636del
 ClinVar dbSNP gnomAD v4
1g.235806683T>ACA1467273LYSTc.2453A>T (p.Lys818Ile)
c.1856A>T (p.Lys619Ile)
n.3004A>T
c.116A>T (p.Lys39Ile)
n.2635A>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806683T>CCA344957168LYSTc.2453A>G (p.Lys818Arg)
c.1856A>G (p.Lys619Arg)
n.3004A>G
c.116A>G (p.Lys39Arg)
n.2635A>G
1g.235806683T>GCA344957170LYSTc.2453A>C (p.Lys818Thr)
c.1856A>C (p.Lys619Thr)
n.3004A>C
c.116A>C (p.Lys39Thr)
n.2635A>C
1g.235806683T=CA1145171490LYSTc.2453A= (p.Lys818=)
c.1856A= (p.Lys619=)
n.3004A=
c.116A= (p.Lys39=)
n.2635A=
1g.235806684T>ACA344957172LYSTc.2452A>T (p.Lys818Ter)
c.1855A>T (p.Lys619Ter)
n.3003A>T
c.115A>T (p.Lys39Ter)
n.2634A>T
1g.235806684T>CCA344957174LYSTc.2452A>G (p.Lys818Glu)
c.1855A>G (p.Lys619Glu)
n.3003A>G
c.115A>G (p.Lys39Glu)
n.2634A>G
1g.235806684T>GCA344957176LYSTc.2452A>C (p.Lys818Gln)
c.1855A>C (p.Lys619Gln)
n.3003A>C
c.115A>C (p.Lys39Gln)
n.2634A>C
1g.235806685T>ACA424027737LYSTc.2451A>T (p.Leu817=)
c.1854A>T (p.Leu618=)
n.3002A>T
c.114A>T (p.Leu38=)
n.2633A>T
1g.235806685T>CCA1467274LYSTc.2451A>G (p.Leu817=)
c.1854A>G (p.Leu618=)
n.3002A>G
c.114A>G (p.Leu38=)
n.2633A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806685T>GCA424027738LYSTc.2451A>C (p.Leu817=)
c.1854A>C (p.Leu618=)
n.3002A>C
c.114A>C (p.Leu38=)
n.2633A>C
1g.235806685T=CA1146081562LYSTc.2451A= (p.Leu817=)
c.1854A= (p.Leu618=)
n.3002A=
c.114A= (p.Leu38=)
n.2633A=
1g.235806686A>CCA344957179LYSTc.2450T>G (p.Leu817Arg)
c.1853T>G (p.Leu618Arg)
n.3001T>G
c.113T>G (p.Leu38Arg)
n.2632T>G
1g.235806686A>GCA344957181LYSTc.2450T>C (p.Leu817Pro)
c.1853T>C (p.Leu618Pro)
n.3001T>C
c.113T>C (p.Leu38Pro)
n.2632T>C
1g.235806686A>TCA344957182LYSTc.2450T>A (p.Leu817Gln)
c.1853T>A (p.Leu618Gln)
n.3001T>A
c.113T>A (p.Leu38Gln)
n.2632T>A
1g.235806687G>ACA424027742LYSTc.2449C>T (p.Leu817=)
c.1852C>T (p.Leu618=)
n.3000C>T
c.112C>T (p.Leu38=)
n.2631C>T
1g.235806687G>CCA344957184LYSTc.2449C>G (p.Leu817Val)
c.1852C>G (p.Leu618Val)
n.3000C>G
c.112C>G (p.Leu38Val)
n.2631C>G
1g.235806687G>TCA344957186LYSTc.2449C>A (p.Leu817Ile)
c.1852C>A (p.Leu618Ile)
n.3000C>A
c.112C>A (p.Leu38Ile)
n.2631C>A
1g.235806688A>CCA424027743LYSTc.2448T>G (p.Ser816=)
c.1851T>G (p.Ser617=)
n.2999T>G
c.111T>G (p.Ser37=)
n.2630T>G
1g.235806688A>GCA424027744LYSTc.2448T>C (p.Ser816=)
c.1851T>C (p.Ser617=)
n.2999T>C
c.111T>C (p.Ser37=)
n.2630T>C
1g.235806688A>TCA424027746LYSTc.2448T>A (p.Ser816=)
c.1851T>A (p.Ser617=)
n.2999T>A
c.111T>A (p.Ser37=)
n.2630T>A
1g.235806689G>ACA344957188LYSTc.2447C>T (p.Ser816Phe)
c.1850C>T (p.Ser617Phe)
n.2998C>T
c.110C>T (p.Ser37Phe)
n.2629C>T
 COSMIC
1g.235806689G>CCA344957191LYSTc.2447C>G (p.Ser816Cys)
c.1850C>G (p.Ser617Cys)
n.2998C>G
c.110C>G (p.Ser37Cys)
n.2629C>G
1g.235806689G>TCA344957193LYSTc.2447C>A (p.Ser816Tyr)
c.1850C>A (p.Ser617Tyr)
n.2998C>A
c.110C>A (p.Ser37Tyr)
n.2629C>A
1g.235806690A>CCA344957196LYSTc.2446T>G (p.Ser816Ala)
c.1849T>G (p.Ser617Ala)
n.2997T>G
c.109T>G (p.Ser37Ala)
n.2628T>G
1g.235806690A>GCA344957198LYSTc.2446T>C (p.Ser816Pro)
c.1849T>C (p.Ser617Pro)
n.2997T>C
c.109T>C (p.Ser37Pro)
n.2628T>C
1g.235806690A>TCA344957199LYSTc.2446T>A (p.Ser816Thr)
c.1849T>A (p.Ser617Thr)
n.2997T>A
c.109T>A (p.Ser37Thr)
n.2628T>A
1g.235806691A=CA2486650275LYSTc.2445T= (p.His815=)
c.1848T= (p.His616=)
n.2996T=
c.108T= (p.His36=)
n.2627T=
1g.235806691A>CCA344957201LYSTc.2445T>G (p.His815Gln)
c.1848T>G (p.His616Gln)
n.2996T>G
c.108T>G (p.His36Gln)
n.2627T>G
1g.235806691A>GCA424027755LYSTc.2445T>C (p.His815=)
c.1848T>C (p.His616=)
n.2996T>C
c.108T>C (p.His36=)
n.2627T>C
 dbSNP gnomAD v2 gnomAD v4
1g.235806691A>TCA344957202LYSTc.2445T>A (p.His815Gln)
c.1848T>A (p.His616Gln)
n.2996T>A
c.108T>A (p.His36Gln)
n.2627T>A
1g.235806692T>ACA344957205LYSTc.2444A>T (p.His815Leu)
c.1847A>T (p.His616Leu)
n.2995A>T
c.107A>T (p.His36Leu)
n.2626A>T
 dbSNP
1g.235806692T>CCA344957206LYSTc.2444A>G (p.His815Arg)
c.1847A>G (p.His616Arg)
n.2995A>G
c.107A>G (p.His36Arg)
n.2626A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806692T>GCA344957208LYSTc.2444A>C (p.His815Pro)
c.1847A>C (p.His616Pro)
n.2995A>C
c.107A>C (p.His36Pro)
n.2626A>C
1g.235806692T=CA2486650276LYSTc.2444A= (p.His815=)
c.1847A= (p.His616=)
n.2995A=
c.107A= (p.His36=)
n.2626A=
1g.235806693G>ACA1467275LYSTc.2443C>T (p.His815Tyr)
c.1846C>T (p.His616Tyr)
n.2994C>T
c.106C>T (p.His36Tyr)
n.2625C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806693G>CCA344957213LYSTc.2443C>G (p.His815Asp)
c.1846C>G (p.His616Asp)
n.2994C>G
c.106C>G (p.His36Asp)
n.2625C>G
1g.235806693G=CA1141825534LYSTc.2443C= (p.His815=)
c.1846C= (p.His616=)
n.2994C=
c.106C= (p.His36=)
n.2625C=
1g.235806693G>TCA344957210LYSTc.2443C>A (p.His815Asn)
c.1846C>A (p.His616Asn)
n.2994C>A
c.106C>A (p.His36Asn)
n.2625C>A
 gnomAD v4
1g.235806694A=CA1144178428LYSTc.2442T= (p.Ser814=)
c.1845T= (p.Ser615=)
n.2993T=
c.105T= (p.Ser35=)
n.2624T=
1g.235806694A>CCA344957216LYSTc.2442T>G (p.Ser814Arg)
c.1845T>G (p.Ser615Arg)
n.2993T>G
c.105T>G (p.Ser35Arg)
n.2624T>G
 gnomAD v4
1g.235806694A>GCA1467277LYSTc.2442T>C (p.Ser814=)
c.1845T>C (p.Ser615=)
n.2993T>C
c.105T>C (p.Ser35=)
n.2624T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806694A>TCA1467276LYSTc.2442T>A (p.Ser814Arg)
c.1845T>A (p.Ser615Arg)
n.2993T>A
c.105T>A (p.Ser35Arg)
n.2624T>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched