Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.235806594_235806597delinsCCTT | CA2486650236 | LYST | c.2539_2542delinsAAGG (p.Lys847=) c.1942_1945delinsAAGG (p.Lys648=) n.3090_3093delinsAAGG c.202_205delinsAAGG (p.Lys68=) n.2721_2724delinsAAGG | |
1 | g.235806595C>A | CA344956759 | LYST | c.2541G>T (p.Lys847Asn) c.1944G>T (p.Lys648Asn) n.3092G>T c.204G>T (p.Lys68Asn) n.2723G>T | |
1 | g.235806595C>G | CA344956755 | LYST | c.2541G>C (p.Lys847Asn) c.1944G>C (p.Lys648Asn) n.3092G>C c.204G>C (p.Lys68Asn) n.2723G>C | |
1 | g.235806595C>T | CA424027572 | LYST | c.2541G>A (p.Lys847=) c.1944G>A (p.Lys648=) n.3092G>A c.204G>A (p.Lys68=) n.2723G>A | |
1 | g.235806595_235806596delinsCT | CA2486650238 | LYST | c.2540_2541delinsAG (p.Lys847=) c.1943_1944delinsAG (p.Lys648=) n.3091_3092delinsAG c.203_204delinsAG (p.Lys68=) n.2722_2723delinsAG | |
1 | g.235806597_235806599del | CA1467257 | LYST | c.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 |
1 | g.235806596T>A | CA344956760 | LYST | c.2540A>T (p.Lys847Met) c.1943A>T (p.Lys648Met) n.3091A>T c.203A>T (p.Lys68Met) n.2722A>T | |
1 | g.235806596T>C | CA344956762 | LYST | c.2540A>G (p.Lys847Arg) c.1943A>G (p.Lys648Arg) n.3091A>G c.203A>G (p.Lys68Arg) n.2722A>G | |
1 | g.235806596T>G | CA344956764 | LYST | c.2540A>C (p.Lys847Thr) c.1943A>C (p.Lys648Thr) n.3091A>C c.203A>C (p.Lys68Thr) n.2722A>C | |
1 | g.235806597del | CA2486650239 | LYST | c.2540del (p.Lys847ArgfsTer?) c.1943del (p.Lys648ArgfsTer?) n.3091del c.203del (p.Lys68ArgfsTer?) n.2722del | ClinVar dbSNP gnomAD v4 |
1 | g.235806597T>A | CA344956766 | LYST | c.2539A>T (p.Lys847Ter) c.1942A>T (p.Lys648Ter) n.3090A>T c.202A>T (p.Lys68Ter) n.2721A>T | |
1 | g.235806597T>C | CA344956768 | LYST | c.2539A>G (p.Lys847Glu) c.1942A>G (p.Lys648Glu) n.3090A>G c.202A>G (p.Lys68Glu) n.2721A>G | |
1 | g.235806597T>G | CA344956770 | LYST | c.2539A>C (p.Lys847Gln) c.1942A>C (p.Lys648Gln) n.3090A>C c.202A>C (p.Lys68Gln) n.2721A>C | |
1 | g.235806598C>A | CA344956772 | LYST | c.2538G>T (p.Gln846His) c.1941G>T (p.Gln647His) n.3089G>T c.201G>T (p.Gln67His) n.2720G>T | |
1 | g.235806598C= | CA2486650240 | LYST | c.2538G= (p.Gln846=) c.1941G= (p.Gln647=) n.3089G= c.201G= (p.Gln67=) n.2720G= | |
1 | g.235806598C>G | CA344956774 | LYST | c.2538G>C (p.Gln846His) c.1941G>C (p.Gln647His) n.3089G>C c.201G>C (p.Gln67His) n.2720G>C | dbSNP gnomAD v4 |
1 | g.235806598C>T | CA424027573 | LYST | c.2538G>A (p.Gln846=) c.1941G>A (p.Gln647=) n.3089G>A c.201G>A (p.Gln67=) n.2720G>A | |
1 | g.235806599T>A | CA344956777 | LYST | c.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 |
1 | g.235806599T>C | CA344956778 | LYST | c.2537A>G (p.Gln846Arg) c.1940A>G (p.Gln647Arg) n.3088A>G c.200A>G (p.Gln67Arg) n.2719A>G | |
1 | g.235806599T>G | CA344956780 | LYST | c.2537A>C (p.Gln846Pro) c.1940A>C (p.Gln647Pro) n.3088A>C c.200A>C (p.Gln67Pro) n.2719A>C | |
1 | g.235806599T= | CA2486650241 | LYST | c.2537A= (p.Gln846=) c.1940A= (p.Gln647=) n.3088A= c.200A= (p.Gln67=) n.2719A= | |
1 | g.235806600G>A | CA344956783 | LYST | c.2536C>T (p.Gln846Ter) c.1939C>T (p.Gln647Ter) n.3087C>T c.199C>T (p.Gln67Ter) n.2718C>T | |
1 | g.235806600G>C | CA344956786 | LYST | c.2536C>G (p.Gln846Glu) c.1939C>G (p.Gln647Glu) n.3087C>G c.199C>G (p.Gln67Glu) n.2718C>G | gnomAD v4 |
1 | g.235806600G>T | CA344956785 | LYST | c.2536C>A (p.Gln846Lys) c.1939C>A (p.Gln647Lys) n.3087C>A c.199C>A (p.Gln67Lys) n.2718C>A | |
1 | g.235806601T>A | CA344956788 | LYST | c.2535A>T (p.Glu845Asp) c.1938A>T (p.Glu646Asp) n.3086A>T c.198A>T (p.Glu66Asp) n.2717A>T | |
1 | g.235806601T>C | CA424027574 | LYST | c.2535A>G (p.Glu845=) c.1938A>G (p.Glu646=) n.3086A>G c.198A>G (p.Glu66=) n.2717A>G | |
1 | g.235806601T>G | CA344956790 | LYST | c.2535A>C (p.Glu845Asp) c.1938A>C (p.Glu646Asp) n.3086A>C c.198A>C (p.Glu66Asp) n.2717A>C | |
1 | g.235806602T>A | CA344956793 | LYST | c.2534A>T (p.Glu845Val) c.1937A>T (p.Glu646Val) n.3085A>T c.197A>T (p.Glu66Val) n.2716A>T | |
1 | g.235806602T>C | CA344956796 | LYST | c.2534A>G (p.Glu845Gly) c.1937A>G (p.Glu646Gly) n.3085A>G c.197A>G (p.Glu66Gly) n.2716A>G | |
1 | g.235806602T>G | CA344956794 | LYST | c.2534A>C (p.Glu845Ala) c.1937A>C (p.Glu646Ala) n.3085A>C c.197A>C (p.Glu66Ala) n.2716A>C | |
1 | g.235806603C>A | CA344956798 | LYST | c.2533G>T (p.Glu845Ter) c.1936G>T (p.Glu646Ter) n.3084G>T c.196G>T (p.Glu66Ter) n.2715G>T | |
1 | g.235806603C>G | CA344956802 | LYST | c.2533G>C (p.Glu845Gln) c.1936G>C (p.Glu646Gln) n.3084G>C c.196G>C (p.Glu66Gln) n.2715G>C | |
1 | g.235806603C>T | CA344956799 | LYST | c.2533G>A (p.Glu845Lys) c.1936G>A (p.Glu646Lys) n.3084G>A c.196G>A (p.Glu66Lys) n.2715G>A | |
1 | g.235806604A= | CA2486650242 | LYST | c.2532T= (p.Ile844=) c.1935T= (p.Ile645=) n.3083T= c.195T= (p.Ile65=) n.2714T= | |
1 | g.235806604A>C | CA344956804 | LYST | c.2532T>G (p.Ile844Met) c.1935T>G (p.Ile645Met) n.3083T>G c.195T>G (p.Ile65Met) n.2714T>G | |
1 | g.235806604A>G | CA424027576 | LYST | c.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 |
1 | g.235806604A>T | CA424027575 | LYST | c.2532T>A (p.Ile844=) c.1935T>A (p.Ile645=) n.3083T>A c.195T>A (p.Ile65=) n.2714T>A | |
1 | g.235806605A= | CA2486650243 | LYST | c.2531T= (p.Ile844=) c.1934T= (p.Ile645=) n.3082T= c.194T= (p.Ile65=) n.2713T= | |
1 | g.235806605A>C | CA344956806 | LYST | c.2531T>G (p.Ile844Ser) c.1934T>G (p.Ile645Ser) n.3082T>G c.194T>G (p.Ile65Ser) n.2713T>G | ClinVar |
1 | g.235806605A>G | CA344956808 | LYST | c.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 |
1 | g.235806605A>T | CA344956809 | LYST | c.2531T>A (p.Ile844Asn) c.1934T>A (p.Ile645Asn) n.3082T>A c.194T>A (p.Ile65Asn) n.2713T>A | |
1 | g.235806606T>A | CA344956813 | LYST | c.2530A>T (p.Ile844Phe) c.1933A>T (p.Ile645Phe) n.3081A>T c.193A>T (p.Ile65Phe) n.2712A>T | |
1 | g.235806606T>C | CA344956815 | LYST | c.2530A>G (p.Ile844Val) c.1933A>G (p.Ile645Val) n.3081A>G c.193A>G (p.Ile65Val) n.2712A>G | |
1 | g.235806606T>G | CA344956817 | LYST | c.2530A>C (p.Ile844Leu) c.1933A>C (p.Ile645Leu) n.3081A>C c.193A>C (p.Ile65Leu) n.2712A>C | |
1 | g.235806607G>A | CA424027577 | LYST | c.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 |
1 | g.235806607G>C | CA344956819 | LYST | c.2529C>G (p.Asp843Glu) c.1932C>G (p.Asp644Glu) n.3080C>G c.192C>G (p.Asp64Glu) n.2711C>G | gnomAD v4 COSMIC |
1 | g.235806607G= | CA2486650244 | LYST | c.2529C= (p.Asp843=) c.1932C= (p.Asp644=) n.3080C= c.192C= (p.Asp64=) n.2711C= | |
1 | g.235806607G>T | CA344956821 | LYST | c.2529C>A (p.Asp843Glu) c.1932C>A (p.Asp644Glu) n.3080C>A c.192C>A (p.Asp64Glu) n.2711C>A | |
1 | g.235806608T>A | CA344956824 | LYST | c.2528A>T (p.Asp843Val) c.1931A>T (p.Asp644Val) n.3079A>T c.191A>T (p.Asp64Val) n.2710A>T | |
1 | g.235806608T>C | CA344956825 | LYST | c.2528A>G (p.Asp843Gly) c.1931A>G (p.Asp644Gly) n.3079A>G c.191A>G (p.Asp64Gly) n.2710A>G | |
1 | g.235806608T>G | CA344956828 | LYST | c.2528A>C (p.Asp843Ala) c.1931A>C (p.Asp644Ala) n.3079A>C c.191A>C (p.Asp64Ala) n.2710A>C | |
1 | g.235806609C>A | CA344956833 | LYST | c.2527G>T (p.Asp843Tyr) c.1930G>T (p.Asp644Tyr) n.3078G>T c.190G>T (p.Asp64Tyr) n.2709G>T | |
1 | g.235806609C>G | CA344956830 | LYST | c.2527G>C (p.Asp843His) c.1930G>C (p.Asp644His) n.3078G>C c.190G>C (p.Asp64His) n.2709G>C | |
1 | g.235806609C>T | CA344956832 | LYST | c.2527G>A (p.Asp843Asn) c.1930G>A (p.Asp644Asn) n.3078G>A c.190G>A (p.Asp64Asn) n.2709G>A | |
1 | g.235806610T>A | CA424027578 | LYST | c.2526A>T (p.Ile842=) c.1929A>T (p.Ile643=) n.3077A>T c.189A>T (p.Ile63=) n.2708A>T | |
1 | g.235806610T>C | CA344956836 | LYST | c.2526A>G (p.Ile842Met) c.1929A>G (p.Ile643Met) n.3077A>G c.189A>G (p.Ile63Met) n.2708A>G | |
1 | g.235806610T>G | CA424027579 | LYST | c.2526A>C (p.Ile842=) c.1929A>C (p.Ile643=) n.3077A>C c.189A>C (p.Ile63=) n.2708A>C | |
1 | g.235806611A= | CA2486650245 | LYST | c.2525T= (p.Ile842=) c.1928T= (p.Ile643=) n.3076T= c.188T= (p.Ile63=) n.2707T= | |
1 | g.235806611A>C | CA344956838 | LYST | c.2525T>G (p.Ile842Arg) c.1928T>G (p.Ile643Arg) n.3076T>G c.188T>G (p.Ile63Arg) n.2707T>G | |
1 | g.235806611A>G | CA1467258 | LYST | c.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 |
1 | g.235806611A>T | CA344956842 | LYST | c.2525T>A (p.Ile842Lys) c.1928T>A (p.Ile643Lys) n.3076T>A c.188T>A (p.Ile63Lys) n.2707T>A | |
1 | g.235806612T>A | CA344956843 | LYST | c.2524A>T (p.Ile842Leu) c.1927A>T (p.Ile643Leu) n.3075A>T c.187A>T (p.Ile63Leu) n.2706A>T | |
1 | g.235806612T>C | CA344956845 | LYST | c.2524A>G (p.Ile842Val) c.1927A>G (p.Ile643Val) n.3075A>G c.187A>G (p.Ile63Val) n.2706A>G | |
1 | g.235806612T>G | CA344956847 | LYST | c.2524A>C (p.Ile842Leu) c.1927A>C (p.Ile643Leu) n.3075A>C c.187A>C (p.Ile63Leu) n.2706A>C | dbSNP |
1 | g.235806612T= | CA2486650246 | LYST | c.2524A= (p.Ile842=) c.1927A= (p.Ile643=) n.3075A= c.187A= (p.Ile63=) n.2706A= | |
1 | g.235806613C>A | CA424027580 | LYST | c.2523G>T (p.Gly841=) c.1926G>T (p.Gly642=) n.3074G>T c.186G>T (p.Gly62=) n.2705G>T | |
1 | g.235806613C= | CA2486650247 | LYST | c.2523G= (p.Gly841=) c.1926G= (p.Gly642=) n.3074G= c.186G= (p.Gly62=) n.2705G= | |
1 | g.235806613C>G | CA424027581 | LYST | c.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 |
1 | g.235806613C>T | CA424027582 | LYST | c.2523G>A (p.Gly841=) c.1926G>A (p.Gly642=) n.3074G>A c.186G>A (p.Gly62=) n.2705G>A | ClinVar |
1 | g.235806614C>A | CA344956849 | LYST | c.2522G>T (p.Gly841Val) c.1925G>T (p.Gly642Val) n.3073G>T c.185G>T (p.Gly62Val) n.2704G>T | |
1 | g.235806614C= | CA2486650248 | LYST | c.2522G= (p.Gly841=) c.1925G= (p.Gly642=) n.3073G= c.185G= (p.Gly62=) n.2704G= | |
1 | g.235806614C>G | CA344956851 | LYST | c.2522G>C (p.Gly841Ala) c.1925G>C (p.Gly642Ala) n.3073G>C c.185G>C (p.Gly62Ala) n.2704G>C | |
1 | g.235806614C>T | CA344956853 | LYST | c.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 |
1 | g.235806615C>A | CA344956859 | LYST | c.2521G>T (p.Gly841Trp) c.1924G>T (p.Gly642Trp) n.3072G>T c.184G>T (p.Gly62Trp) n.2703G>T | |
1 | g.235806615C= | CA2486650249 | LYST | c.2521G= (p.Gly841=) c.1924G= (p.Gly642=) n.3072G= c.184G= (p.Gly62=) n.2703G= | |
1 | g.235806615C>G | CA1467259 | LYST | c.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 |
1 | g.235806615C>T | CA344956856 | LYST | c.2521G>A (p.Gly841Arg) c.1924G>A (p.Gly642Arg) n.3072G>A c.184G>A (p.Gly62Arg) n.2703G>A | |
1 | g.235806616A= | CA2486650250 | LYST | c.2520T= (p.Asp840=) c.1923T= (p.Asp641=) n.3071T= c.183T= (p.Asp61=) n.2702T= | |
1 | g.235806616A>C | CA344956861 | LYST | c.2520T>G (p.Asp840Glu) c.1923T>G (p.Asp641Glu) n.3071T>G c.183T>G (p.Asp61Glu) n.2702T>G | |
1 | g.235806616A>G | CA424027583 | LYST | c.2520T>C (p.Asp840=) c.1923T>C (p.Asp641=) n.3071T>C c.183T>C (p.Asp61=) n.2702T>C | |
1 | g.235806616A>T | CA1467260 | LYST | c.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 |
1 | g.235806617T>A | CA344956866 | LYST | c.2519A>T (p.Asp840Val) c.1922A>T (p.Asp641Val) n.3070A>T c.182A>T (p.Asp61Val) n.2701A>T | |
1 | g.235806617T>C | CA344956868 | LYST | c.2519A>G (p.Asp840Gly) c.1922A>G (p.Asp641Gly) n.3070A>G c.182A>G (p.Asp61Gly) n.2701A>G | gnomAD v4 |
1 | g.235806617T>G | CA344956870 | LYST | c.2519A>C (p.Asp840Ala) c.1922A>C (p.Asp641Ala) n.3070A>C c.182A>C (p.Asp61Ala) n.2701A>C | |
1 | g.235806618C>A | CA344956872 | LYST | c.2518G>T (p.Asp840Tyr) c.1921G>T (p.Asp641Tyr) n.3069G>T c.181G>T (p.Asp61Tyr) n.2700G>T | |
1 | g.235806618C= | CA2486650251 | LYST | c.2518G= (p.Asp840=) c.1921G= (p.Asp641=) n.3069G= c.181G= (p.Asp61=) n.2700G= | |
1 | g.235806618C>G | CA344956873 | LYST | c.2518G>C (p.Asp840His) c.1921G>C (p.Asp641His) n.3069G>C c.181G>C (p.Asp61His) n.2700G>C | |
1 | g.235806618C>T | CA1467261 | LYST | c.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 |
1 | g.235806619A= | CA1141079812 | LYST | c.2517T= (p.Ile839=) c.1920T= (p.Ile640=) n.3068T= c.180T= (p.Ile60=) n.2699T= | |
1 | g.235806619A>C | CA39616375 | LYST | c.2517T>G (p.Ile839Met) c.1920T>G (p.Ile640Met) n.3068T>G c.180T>G (p.Ile60Met) n.2699T>G | dbSNP |
1 | g.235806619A>G | CA1467262 | LYST | c.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 |
1 | g.235806619A>T | CA424027584 | LYST | c.2517T>A (p.Ile839=) c.1920T>A (p.Ile640=) n.3068T>A c.180T>A (p.Ile60=) n.2699T>A | |
1 | g.235806620A>C | CA344956880 | LYST | c.2516T>G (p.Ile839Ser) c.1919T>G (p.Ile640Ser) n.3067T>G c.179T>G (p.Ile60Ser) n.2698T>G | |
1 | g.235806620A>G | CA344956882 | LYST | c.2516T>C (p.Ile839Thr) c.1919T>C (p.Ile640Thr) n.3067T>C c.179T>C (p.Ile60Thr) n.2698T>C | |
1 | g.235806620A>T | CA344956884 | LYST | c.2516T>A (p.Ile839Asn) c.1919T>A (p.Ile640Asn) n.3067T>A c.179T>A (p.Ile60Asn) n.2698T>A | |
1 | g.235806621T>A | CA344956886 | LYST | c.2515A>T (p.Ile839Phe) c.1918A>T (p.Ile640Phe) n.3066A>T c.178A>T (p.Ile60Phe) n.2697A>T | |
1 | g.235806621T>C | CA344956889 | LYST | c.2515A>G (p.Ile839Val) c.1918A>G (p.Ile640Val) n.3066A>G c.178A>G (p.Ile60Val) n.2697A>G | |
1 | g.235806621T>G | CA344956888 | LYST | c.2515A>C (p.Ile839Leu) c.1918A>C (p.Ile640Leu) n.3066A>C c.178A>C (p.Ile60Leu) n.2697A>C | |
1 | g.235806622A= | CA2486650252 | LYST | c.2514T= (p.Asp838=) c.1917T= (p.Asp639=) n.3065T= c.177T= (p.Asp59=) n.2696T= | |
1 | g.235806622A>C | CA39616378 | LYST | c.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 |
1 | g.235806622A>G | CA424027586 | LYST | c.2514T>C (p.Asp838=) c.1917T>C (p.Asp639=) n.3065T>C c.177T>C (p.Asp59=) n.2696T>C | |
1 | g.235806622A>T | CA39616380 | LYST | c.2514T>A (p.Asp838Glu) c.1917T>A (p.Asp639Glu) n.3065T>A c.177T>A (p.Asp59Glu) n.2696T>A | ClinVar dbSNP |
1 | g.235806623T>A | CA344956890 | LYST | c.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 |
1 | g.235806623T>C | CA344956891 | LYST | c.2513A>G (p.Asp838Gly) c.1916A>G (p.Asp639Gly) n.3064A>G c.176A>G (p.Asp59Gly) n.2695A>G | dbSNP |
1 | g.235806623T>G | CA344956892 | LYST | c.2513A>C (p.Asp838Ala) c.1916A>C (p.Asp639Ala) n.3064A>C c.176A>C (p.Asp59Ala) n.2695A>C | |
1 | g.235806623T= | CA2486650253 | LYST | c.2513A= (p.Asp838=) c.1916A= (p.Asp639=) n.3064A= c.176A= (p.Asp59=) n.2695A= | |
1 | g.235806624C>A | CA344956894 | LYST | c.2512G>T (p.Asp838Tyr) c.1915G>T (p.Asp639Tyr) n.3063G>T c.175G>T (p.Asp59Tyr) n.2694G>T | |
1 | g.235806624C>G | CA344956896 | LYST | c.2512G>C (p.Asp838His) c.1915G>C (p.Asp639His) n.3063G>C c.175G>C (p.Asp59His) n.2694G>C | |
1 | g.235806624C>T | CA344956897 | LYST | c.2512G>A (p.Asp838Asn) c.1915G>A (p.Asp639Asn) n.3063G>A c.175G>A (p.Asp59Asn) n.2694G>A | gnomAD v4 |
1 | g.235806625T>A | CA424027594 | LYST | c.2511A>T (p.Pro837=) c.1914A>T (p.Pro638=) n.3062A>T c.174A>T (p.Pro58=) n.2693A>T | |
1 | g.235806625T>C | CA39616383 | LYST | c.2511A>G (p.Pro837=) c.1914A>G (p.Pro638=) n.3062A>G c.174A>G (p.Pro58=) n.2693A>G | dbSNP |
1 | g.235806625T>G | CA424027595 | LYST | c.2511A>C (p.Pro837=) c.1914A>C (p.Pro638=) n.3062A>C c.174A>C (p.Pro58=) n.2693A>C | |
1 | g.235806625T= | CA2486650254 | LYST | c.2511A= (p.Pro837=) c.1914A= (p.Pro638=) n.3062A= c.174A= (p.Pro58=) n.2693A= | |
1 | g.235806626G>A | CA344956899 | LYST | c.2510C>T (p.Pro837Leu) c.1913C>T (p.Pro638Leu) n.3061C>T c.173C>T (p.Pro58Leu) n.2692C>T | |
1 | g.235806626G>C | CA344956901 | LYST | c.2510C>G (p.Pro837Arg) c.1913C>G (p.Pro638Arg) n.3061C>G c.173C>G (p.Pro58Arg) n.2692C>G | |
1 | g.235806626G>T | CA344956903 | LYST | c.2510C>A (p.Pro837Gln) c.1913C>A (p.Pro638Gln) n.3061C>A c.173C>A (p.Pro58Gln) n.2692C>A | |
1 | g.235806627G>A | CA344956909 | LYST | c.2509C>T (p.Pro837Ser) c.1912C>T (p.Pro638Ser) n.3060C>T c.172C>T (p.Pro58Ser) n.2691C>T | COSMIC |
1 | g.235806627G>C | CA344956907 | LYST | c.2509C>G (p.Pro837Ala) c.1912C>G (p.Pro638Ala) n.3060C>G c.172C>G (p.Pro58Ala) n.2691C>G | ClinVar |
1 | g.235806627G>T | CA344956904 | LYST | c.2509C>A (p.Pro837Thr) c.1912C>A (p.Pro638Thr) n.3060C>A c.172C>A (p.Pro58Thr) n.2691C>A | gnomAD v4 |
1 | g.235806628A>C | CA424027601 | LYST | c.2508T>G (p.Val836=) c.1911T>G (p.Val637=) n.3059T>G c.171T>G (p.Val57=) n.2690T>G | |
1 | g.235806628A>G | CA424027605 | LYST | c.2508T>C (p.Val836=) c.1911T>C (p.Val637=) n.3059T>C c.171T>C (p.Val57=) n.2690T>C | |
1 | g.235806628A>T | CA424027606 | LYST | c.2508T>A (p.Val836=) c.1911T>A (p.Val637=) n.3059T>A c.171T>A (p.Val57=) n.2690T>A | |
1 | g.235806629A>C | CA344956915 | LYST | c.2507T>G (p.Val836Gly) c.1910T>G (p.Val637Gly) n.3058T>G c.170T>G (p.Val57Gly) n.2689T>G | |
1 | g.235806629A>G | CA344956911 | LYST | c.2507T>C (p.Val836Ala) c.1910T>C (p.Val637Ala) n.3058T>C c.170T>C (p.Val57Ala) n.2689T>C | |
1 | g.235806629A>T | CA344956913 | LYST | c.2507T>A (p.Val836Asp) c.1910T>A (p.Val637Asp) n.3058T>A c.170T>A (p.Val57Asp) n.2689T>A | |
1 | g.235806630C>A | CA344956916 | LYST | c.2506G>T (p.Val836Phe) c.1909G>T (p.Val637Phe) n.3057G>T c.169G>T (p.Val57Phe) n.2688G>T | |
1 | g.235806630C>G | CA344956918 | LYST | c.2506G>C (p.Val836Leu) c.1909G>C (p.Val637Leu) n.3057G>C c.169G>C (p.Val57Leu) n.2688G>C | |
1 | g.235806630C>T | CA344956920 | LYST | c.2506G>A (p.Val836Ile) c.1909G>A (p.Val637Ile) n.3057G>A c.169G>A (p.Val57Ile) n.2688G>A | COSMIC |
1 | g.235806631T>A | CA424027608 | LYST | c.2505A>T (p.Ser835=) c.1908A>T (p.Ser636=) n.3056A>T c.168A>T (p.Ser56=) n.2687A>T | |
1 | g.235806631T>C | CA424027610 | LYST | c.2505A>G (p.Ser835=) c.1908A>G (p.Ser636=) n.3056A>G c.168A>G (p.Ser56=) n.2687A>G | ClinVar |
1 | g.235806631T>G | CA424027609 | LYST | c.2505A>C (p.Ser835=) c.1908A>C (p.Ser636=) n.3056A>C c.168A>C (p.Ser56=) n.2687A>C | |
1 | g.235806632G>A | CA344956922 | LYST | c.2504C>T (p.Ser835Leu) c.1907C>T (p.Ser636Leu) n.3055C>T c.167C>T (p.Ser56Leu) n.2686C>T | |
1 | g.235806632G>C | CA344956924 | LYST | c.2504C>G (p.Ser835Ter) c.1907C>G (p.Ser636Ter) n.3055C>G c.167C>G (p.Ser56Ter) n.2686C>G | |
1 | g.235806632G>T | CA344956926 | LYST | c.2504C>A (p.Ser835Ter) c.1907C>A (p.Ser636Ter) n.3055C>A c.167C>A (p.Ser56Ter) n.2686C>A | |
1 | g.235806633A>C | CA344956928 | LYST | c.2503T>G (p.Ser835Ala) c.1906T>G (p.Ser636Ala) n.3054T>G c.166T>G (p.Ser56Ala) n.2685T>G | |
1 | g.235806633A>G | CA344956932 | LYST | c.2503T>C (p.Ser835Pro) c.1906T>C (p.Ser636Pro) n.3054T>C c.166T>C (p.Ser56Pro) n.2685T>C | |
1 | g.235806633A>T | CA344956930 | LYST | c.2503T>A (p.Ser835Thr) c.1906T>A (p.Ser636Thr) n.3054T>A c.166T>A (p.Ser56Thr) n.2685T>A | |
1 | g.235806634G>A | CA1467263 | LYST | c.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 |
1 | g.235806634G>C | CA424027617 | LYST | c.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 |
1 | g.235806634G= | CA2486650255 | LYST | c.2502C= (p.Ala834=) c.1905C= (p.Ala635=) n.3053C= c.165C= (p.Ala55=) n.2684C= | |
1 | g.235806634G>T | CA424027619 | LYST | c.2502C>A (p.Ala834=) c.1905C>A (p.Ala635=) n.3053C>A c.165C>A (p.Ala55=) n.2684C>A | |
1 | g.235806635G>A | CA344956936 | LYST | c.2501C>T (p.Ala834Val) c.1904C>T (p.Ala635Val) n.3052C>T c.164C>T (p.Ala55Val) n.2683C>T | dbSNP |
1 | g.235806635G>C | CA344956938 | LYST | c.2501C>G (p.Ala834Gly) c.1904C>G (p.Ala635Gly) n.3052C>G c.164C>G (p.Ala55Gly) n.2683C>G | |
1 | g.235806635G= | CA2486650256 | LYST | c.2501C= (p.Ala834=) c.1904C= (p.Ala635=) n.3052C= c.164C= (p.Ala55=) n.2683C= | |
1 | g.235806635G>T | CA344956940 | LYST | c.2501C>A (p.Ala834Asp) c.1904C>A (p.Ala635Asp) n.3052C>A c.164C>A (p.Ala55Asp) n.2683C>A | |
1 | g.235806636C>A | CA344956942 | LYST | c.2500G>T (p.Ala834Ser) c.1903G>T (p.Ala635Ser) n.3051G>T c.163G>T (p.Ala55Ser) n.2682G>T | gnomAD v4 |
1 | g.235806636C= | CA2486650257 | LYST | c.2500G= (p.Ala834=) c.1903G= (p.Ala635=) n.3051G= c.163G= (p.Ala55=) n.2682G= | |
1 | g.235806636C>G | CA344956946 | LYST | c.2500G>C (p.Ala834Pro) c.1903G>C (p.Ala635Pro) n.3051G>C c.163G>C (p.Ala55Pro) n.2682G>C | |
1 | g.235806636C>T | CA344956944 | LYST | c.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 |
1 | g.235806637A= | CA2486650258 | LYST | c.2499T= (p.Asp833=) c.1902T= (p.Asp634=) n.3050T= c.162T= (p.Asp54=) n.2681T= | |
1 | g.235806637A>C | CA344956949 | LYST | c.2499T>G (p.Asp833Glu) c.1902T>G (p.Asp634Glu) n.3050T>G c.162T>G (p.Asp54Glu) n.2681T>G | |
1 | g.235806637A>G | CA1467264 | LYST | c.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 |
1 | g.235806637A>T | CA344956952 | LYST | c.2499T>A (p.Asp833Glu) c.1902T>A (p.Asp634Glu) n.3050T>A c.162T>A (p.Asp54Glu) n.2681T>A | |
1 | g.235806638T>A | CA344956954 | LYST | c.2498A>T (p.Asp833Val) c.1901A>T (p.Asp634Val) n.3049A>T c.161A>T (p.Asp54Val) n.2680A>T | |
1 | g.235806638T>C | CA344956956 | LYST | c.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 |
1 | g.235806638T>G | CA344956957 | LYST | c.2498A>C (p.Asp833Ala) c.1901A>C (p.Asp634Ala) n.3049A>C c.161A>C (p.Asp54Ala) n.2680A>C | |
1 | g.235806638T= | CA2486650259 | LYST | c.2498A= (p.Asp833=) c.1901A= (p.Asp634=) n.3049A= c.161A= (p.Asp54=) n.2680A= | |
1 | g.235806639C>A | CA344956959 | LYST | c.2497G>T (p.Asp833Tyr) c.1900G>T (p.Asp634Tyr) n.3048G>T c.160G>T (p.Asp54Tyr) n.2679G>T | COSMIC |
1 | g.235806639C>G | CA344956960 | LYST | c.2497G>C (p.Asp833His) c.1900G>C (p.Asp634His) n.3048G>C c.160G>C (p.Asp54His) n.2679G>C | |
1 | g.235806639C>T | CA344956962 | LYST | c.2497G>A (p.Asp833Asn) c.1900G>A (p.Asp634Asn) n.3048G>A c.160G>A (p.Asp54Asn) n.2679G>A | gnomAD v4 |
1 | g.235806640T>A | CA344956964 | LYST | c.2496A>T (p.Lys832Asn) c.1899A>T (p.Lys633Asn) n.3047A>T c.159A>T (p.Lys53Asn) n.2678A>T | |
1 | g.235806640T>C | CA1467265 | LYST | c.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 |
1 | g.235806640T>G | CA344956966 | LYST | c.2496A>C (p.Lys832Asn) c.1899A>C (p.Lys633Asn) n.3047A>C c.159A>C (p.Lys53Asn) n.2678A>C | |
1 | g.235806640T= | CA1146821198 | LYST | c.2496A= (p.Lys832=) c.1899A= (p.Lys633=) n.3047A= c.159A= (p.Lys53=) n.2678A= | |
1 | g.235806641T>A | CA344956969 | LYST | c.2495A>T (p.Lys832Ile) c.1898A>T (p.Lys633Ile) n.3046A>T c.158A>T (p.Lys53Ile) n.2677A>T | |
1 | g.235806641T>C | CA344956972 | LYST | c.2495A>G (p.Lys832Arg) c.1898A>G (p.Lys633Arg) n.3046A>G c.158A>G (p.Lys53Arg) n.2677A>G | |
1 | g.235806641T>G | CA344956970 | LYST | c.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 |
1 | g.235806641T= | CA2486650260 | LYST | c.2495A= (p.Lys832=) c.1898A= (p.Lys633=) n.3046A= c.158A= (p.Lys53=) n.2677A= | |
1 | g.235806642T>A | CA344956975 | LYST | c.2494A>T (p.Lys832Ter) c.1897A>T (p.Lys633Ter) n.3045A>T c.157A>T (p.Lys53Ter) n.2676A>T | |
1 | g.235806642T>C | CA344956978 | LYST | c.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 |
1 | g.235806642T>G | CA344956980 | LYST | c.2494A>C (p.Lys832Gln) c.1897A>C (p.Lys633Gln) n.3045A>C c.157A>C (p.Lys53Gln) n.2676A>C | |
1 | g.235806642T= | CA2486650261 | LYST | c.2494A= (p.Lys832=) c.1897A= (p.Lys633=) n.3045A= c.157A= (p.Lys53=) n.2676A= | |
1 | g.235806643C>A | CA344956982 | LYST | c.2493G>T (p.Gln831His) c.1896G>T (p.Gln632His) n.3044G>T c.156G>T (p.Gln52His) n.2675G>T | |
1 | g.235806643C>G | CA344956984 | LYST | c.2493G>C (p.Gln831His) c.1896G>C (p.Gln632His) n.3044G>C c.156G>C (p.Gln52His) n.2675G>C | |
1 | g.235806643C>T | CA424027639 | LYST | c.2493G>A (p.Gln831=) c.1896G>A (p.Gln632=) n.3044G>A c.156G>A (p.Gln52=) n.2675G>A | gnomAD v4 |
1 | g.235806644T>A | CA344956985 | LYST | c.2492A>T (p.Gln831Leu) c.1895A>T (p.Gln632Leu) n.3043A>T c.155A>T (p.Gln52Leu) n.2674A>T | |
1 | g.235806644T>C | CA344956987 | LYST | c.2492A>G (p.Gln831Arg) c.1895A>G (p.Gln632Arg) n.3043A>G c.155A>G (p.Gln52Arg) n.2674A>G | dbSNP |
1 | g.235806644T>G | CA344956989 | LYST | c.2492A>C (p.Gln831Pro) c.1895A>C (p.Gln632Pro) n.3043A>C c.155A>C (p.Gln52Pro) n.2674A>C | |
1 | g.235806644T= | CA2486650262 | LYST | c.2492A= (p.Gln831=) c.1895A= (p.Gln632=) n.3043A= c.155A= (p.Gln52=) n.2674A= | |
1 | g.235806645_235806646del | CA2651137532 | LYST | c.2491_2492del (p.Gln831GlufsTer9) c.1894_1895del (p.Gln632GlufsTer9) n.3042_3043del c.154_155del (p.Gln52GlufsTer9) n.2673_2674del | gnomAD v4 |
1 | g.235806645G>A | CA344956990 | LYST | c.2491C>T (p.Gln831Ter) c.1894C>T (p.Gln632Ter) n.3042C>T c.154C>T (p.Gln52Ter) n.2673C>T | gnomAD v4 |
1 | g.235806645G>C | CA344956991 | LYST | c.2491C>G (p.Gln831Glu) c.1894C>G (p.Gln632Glu) n.3042C>G c.154C>G (p.Gln52Glu) n.2673C>G | |
1 | g.235806645G>T | CA344956992 | LYST | c.2491C>A (p.Gln831Lys) c.1894C>A (p.Gln632Lys) n.3042C>A c.154C>A (p.Gln52Lys) n.2673C>A | |
1 | g.235806646T>A | CA344956994 | LYST | c.2490A>T (p.Gln830His) c.1893A>T (p.Gln631His) n.3041A>T c.153A>T (p.Gln51His) n.2672A>T | |
1 | g.235806646T>C | CA424027647 | LYST | c.2490A>G (p.Gln830=) c.1893A>G (p.Gln631=) n.3041A>G c.153A>G (p.Gln51=) n.2672A>G | |
1 | g.235806646T>G | CA344956996 | LYST | c.2490A>C (p.Gln830His) c.1893A>C (p.Gln631His) n.3041A>C c.153A>C (p.Gln51His) n.2672A>C | |
1 | g.235806647T>A | CA344957002 | LYST | c.2489A>T (p.Gln830Leu) c.1892A>T (p.Gln631Leu) n.3040A>T c.152A>T (p.Gln51Leu) n.2671A>T | |
1 | g.235806647T>C | CA344956998 | LYST | c.2489A>G (p.Gln830Arg) c.1892A>G (p.Gln631Arg) n.3040A>G c.152A>G (p.Gln51Arg) n.2671A>G | |
1 | g.235806647T>G | CA344957000 | LYST | c.2489A>C (p.Gln830Pro) c.1892A>C (p.Gln631Pro) n.3040A>C c.152A>C (p.Gln51Pro) n.2671A>C | |
1 | g.235806648G>A | CA344957004 | LYST | c.2488C>T (p.Gln830Ter) c.1891C>T (p.Gln631Ter) n.3039C>T c.151C>T (p.Gln51Ter) n.2670C>T | |
1 | g.235806648G>C | CA344957006 | LYST | c.2488C>G (p.Gln830Glu) c.1891C>G (p.Gln631Glu) n.3039C>G c.151C>G (p.Gln51Glu) n.2670C>G | gnomAD v4 |
1 | g.235806648G>T | CA344957007 | LYST | c.2488C>A (p.Gln830Lys) c.1891C>A (p.Gln631Lys) n.3039C>A c.151C>A (p.Gln51Lys) n.2670C>A | |
1 | g.235806649C>A | CA344957009 | LYST | c.2487G>T (p.Glu829Asp) c.1890G>T (p.Glu630Asp) n.3038G>T c.150G>T (p.Glu50Asp) n.2669G>T | |
1 | g.235806649C= | CA2486650263 | LYST | c.2487G= (p.Glu829=) c.1890G= (p.Glu630=) n.3038G= c.150G= (p.Glu50=) n.2669G= | |
1 | g.235806649C>G | CA344957011 | LYST | c.2487G>C (p.Glu829Asp) c.1890G>C (p.Glu630Asp) n.3038G>C c.150G>C (p.Glu50Asp) n.2669G>C | |
1 | g.235806649C>T | CA1467266 | LYST | c.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 |
1 | g.235806650T>A | CA344957015 | LYST | c.2486A>T (p.Glu829Val) c.1889A>T (p.Glu630Val) n.3037A>T c.149A>T (p.Glu50Val) n.2668A>T | |
1 | g.235806650T>C | CA344957016 | LYST | c.2486A>G (p.Glu829Gly) c.1889A>G (p.Glu630Gly) n.3037A>G c.149A>G (p.Glu50Gly) n.2668A>G | |
1 | g.235806650T>G | CA344957017 | LYST | c.2486A>C (p.Glu829Ala) c.1889A>C (p.Glu630Ala) n.3037A>C c.149A>C (p.Glu50Ala) n.2668A>C | |
1 | g.235806651C>A | CA344957020 | LYST | c.2485G>T (p.Glu829Ter) c.1888G>T (p.Glu630Ter) n.3036G>T c.148G>T (p.Glu50Ter) n.2667G>T | |
1 | g.235806651C>G | CA344957022 | LYST | c.2485G>C (p.Glu829Gln) c.1888G>C (p.Glu630Gln) n.3036G>C c.148G>C (p.Glu50Gln) n.2667G>C | gnomAD v4 |
1 | g.235806651C>T | CA344957024 | LYST | c.2485G>A (p.Glu829Lys) c.1888G>A (p.Glu630Lys) n.3036G>A c.148G>A (p.Glu50Lys) n.2667G>A | |
1 | g.235806652C>A | CA424027655 | LYST | c.2484G>T (p.Gly828=) c.1887G>T (p.Gly629=) n.3035G>T c.147G>T (p.Gly49=) n.2666G>T | |
1 | g.235806652C>G | CA424027656 | LYST | c.2484G>C (p.Gly828=) c.1887G>C (p.Gly629=) n.3035G>C c.147G>C (p.Gly49=) n.2666G>C | |
1 | g.235806652C>T | CA424027657 | LYST | c.2484G>A (p.Gly828=) c.1887G>A (p.Gly629=) n.3035G>A c.147G>A (p.Gly49=) n.2666G>A | ClinVar gnomAD v4 |
1 | g.235806653C>A | CA344957030 | LYST | c.2483G>T (p.Gly828Val) c.1886G>T (p.Gly629Val) n.3034G>T c.146G>T (p.Gly49Val) n.2665G>T | |
1 | g.235806653C= | CA2486650264 | LYST | c.2483G= (p.Gly828=) c.1886G= (p.Gly629=) n.3034G= c.146G= (p.Gly49=) n.2665G= | |
1 | g.235806653C>G | CA344957029 | LYST | c.2483G>C (p.Gly828Ala) c.1886G>C (p.Gly629Ala) n.3034G>C c.146G>C (p.Gly49Ala) n.2665G>C | |
1 | g.235806653C>T | CA344957026 | LYST | c.2483G>A (p.Gly828Glu) c.1886G>A (p.Gly629Glu) n.3034G>A c.146G>A (p.Gly49Glu) n.2665G>A | dbSNP gnomAD v4 |
1 | g.235806654C>A | CA344957033 | LYST | c.2482G>T (p.Gly828Trp) c.1885G>T (p.Gly629Trp) n.3033G>T c.145G>T (p.Gly49Trp) n.2664G>T | |
1 | g.235806654C= | CA2486650265 | LYST | c.2482G= (p.Gly828=) c.1885G= (p.Gly629=) n.3033G= c.145G= (p.Gly49=) n.2664G= | |
1 | g.235806654C>G | CA344957036 | LYST | c.2482G>C (p.Gly828Arg) c.1885G>C (p.Gly629Arg) n.3033G>C c.145G>C (p.Gly49Arg) n.2664G>C | |
1 | g.235806654C>T | CA344957034 | LYST | c.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 |
1 | g.235806655T>A | CA424027662 | LYST | c.2481A>T (p.Leu827=) c.1884A>T (p.Leu628=) n.3032A>T c.144A>T (p.Leu48=) n.2663A>T | |
1 | g.235806655T>C | CA1467267 | LYST | c.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 |
1 | g.235806655T>G | CA424027663 | LYST | c.2481A>C (p.Leu827=) c.1884A>C (p.Leu628=) n.3032A>C c.144A>C (p.Leu48=) n.2663A>C | |
1 | g.235806655T= | CA2486650266 | LYST | c.2481A= (p.Leu827=) c.1884A= (p.Leu628=) n.3032A= c.144A= (p.Leu48=) n.2663A= | |
1 | g.235806656A= | CA1142908835 | LYST | c.2480T= (p.Leu827=) c.1883T= (p.Leu628=) n.3031T= c.143T= (p.Leu48=) n.2662T= | |
1 | g.235806656A>C | CA344957042 | LYST | c.2480T>G (p.Leu827Arg) c.1883T>G (p.Leu628Arg) n.3031T>G c.143T>G (p.Leu48Arg) n.2662T>G | |
1 | g.235806656A>G | CA344957044 | LYST | c.2480T>C (p.Leu827Pro) c.1883T>C (p.Leu628Pro) n.3031T>C c.143T>C (p.Leu48Pro) n.2662T>C | gnomAD v4 |
1 | g.235806656A>T | CA1467268 | LYST | c.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 |
1 | g.235806657G>A | CA424027668 | LYST | c.2479C>T (p.Leu827=) c.1882C>T (p.Leu628=) n.3030C>T c.142C>T (p.Leu48=) n.2661C>T | |
1 | g.235806657G>C | CA344957047 | LYST | c.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 |
1 | g.235806657G= | CA2486650267 | LYST | c.2479C= (p.Leu827=) c.1882C= (p.Leu628=) n.3030C= c.142C= (p.Leu48=) n.2661C= | |
1 | g.235806657G>T | CA344957048 | LYST | c.2479C>A (p.Leu827Ile) c.1882C>A (p.Leu628Ile) n.3030C>A c.142C>A (p.Leu48Ile) n.2661C>A | |
1 | g.235806658G>A | CA424027669 | LYST | c.2478C>T (p.Ser826=) c.1881C>T (p.Ser627=) n.3029C>T c.141C>T (p.Ser47=) n.2660C>T | ClinVar |
1 | g.235806658G>C | CA344957050 | LYST | c.2478C>G (p.Ser826Arg) c.1881C>G (p.Ser627Arg) n.3029C>G c.141C>G (p.Ser47Arg) n.2660C>G | ClinVar |
1 | g.235806658G>T | CA344957052 | LYST | c.2478C>A (p.Ser826Arg) c.1881C>A (p.Ser627Arg) n.3029C>A c.141C>A (p.Ser47Arg) n.2660C>A | |
1 | g.235806659C>A | CA344957055 | LYST | c.2477G>T (p.Ser826Ile) c.1880G>T (p.Ser627Ile) n.3028G>T c.140G>T (p.Ser47Ile) n.2659G>T | |
1 | g.235806659C>G | CA344957056 | LYST | c.2477G>C (p.Ser826Thr) c.1880G>C (p.Ser627Thr) n.3028G>C c.140G>C (p.Ser47Thr) n.2659G>C | |
1 | g.235806659C>T | CA344957058 | LYST | c.2477G>A (p.Ser826Asn) c.1880G>A (p.Ser627Asn) n.3028G>A c.140G>A (p.Ser47Asn) n.2659G>A | COSMIC |
1 | g.235806660T>A | CA344957064 | LYST | c.2476A>T (p.Ser826Cys) c.1879A>T (p.Ser627Cys) n.3027A>T c.139A>T (p.Ser47Cys) n.2658A>T | |
1 | g.235806660T>C | CA344957066 | LYST | c.2476A>G (p.Ser826Gly) c.1879A>G (p.Ser627Gly) n.3027A>G c.139A>G (p.Ser47Gly) n.2658A>G | |
1 | g.235806660T>G | CA344957067 | LYST | c.2476A>C (p.Ser826Arg) c.1879A>C (p.Ser627Arg) n.3027A>C c.139A>C (p.Ser47Arg) n.2658A>C | |
1 | g.235806661G>A | CA424027677 | LYST | c.2475C>T (p.Ile825=) c.1878C>T (p.Ile626=) n.3026C>T c.138C>T (p.Ile46=) n.2657C>T | |
1 | g.235806661G>C | CA344957069 | LYST | c.2475C>G (p.Ile825Met) c.1878C>G (p.Ile626Met) n.3026C>G c.138C>G (p.Ile46Met) n.2657C>G | |
1 | g.235806661G= | CA2486650268 | LYST | c.2475C= (p.Ile825=) c.1878C= (p.Ile626=) n.3026C= c.138C= (p.Ile46=) n.2657C= | |
1 | g.235806661G>T | CA424027675 | LYST | c.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 |
1 | g.235806662A= | CA2486650269 | LYST | c.2474T= (p.Ile825=) c.1877T= (p.Ile626=) n.3025T= c.137T= (p.Ile46=) n.2656T= | |
1 | g.235806662A>C | CA344957073 | LYST | c.2474T>G (p.Ile825Ser) c.1877T>G (p.Ile626Ser) n.3025T>G c.137T>G (p.Ile46Ser) n.2656T>G | |
1 | g.235806662A>G | CA1467269 | LYST | c.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 |
1 | g.235806662A>T | CA344957076 | LYST | c.2474T>A (p.Ile825Asn) c.1877T>A (p.Ile626Asn) n.3025T>A c.137T>A (p.Ile46Asn) n.2656T>A | |
1 | g.235806663T>A | CA344957077 | LYST | c.2473A>T (p.Ile825Phe) c.1876A>T (p.Ile626Phe) n.3024A>T c.136A>T (p.Ile46Phe) n.2655A>T | |
1 | g.235806663T>C | CA344957079 | LYST | c.2473A>G (p.Ile825Val) c.1876A>G (p.Ile626Val) n.3024A>G c.136A>G (p.Ile46Val) n.2655A>G | dbSNP |
1 | g.235806663T>G | CA344957081 | LYST | c.2473A>C (p.Ile825Leu) c.1876A>C (p.Ile626Leu) n.3024A>C c.136A>C (p.Ile46Leu) n.2655A>C | |
1 | g.235806664T>A | CA424027683 | LYST | c.2472A>T (p.Ile824=) c.1875A>T (p.Ile625=) n.3023A>T c.135A>T (p.Ile45=) n.2654A>T | |
1 | g.235806664T>C | CA344957083 | LYST | c.2472A>G (p.Ile824Met) c.1875A>G (p.Ile625Met) n.3023A>G c.135A>G (p.Ile45Met) n.2654A>G | gnomAD v4 |
1 | g.235806664T>G | CA424027685 | LYST | c.2472A>C (p.Ile824=) c.1875A>C (p.Ile625=) n.3023A>C c.135A>C (p.Ile45=) n.2654A>C | |
1 | g.235806665A= | CA2486650270 | LYST | c.2471T= (p.Ile824=) c.1874T= (p.Ile625=) n.3022T= c.134T= (p.Ile45=) n.2653T= | |
1 | g.235806665A>C | CA344957085 | LYST | c.2471T>G (p.Ile824Arg) c.1874T>G (p.Ile625Arg) n.3022T>G c.134T>G (p.Ile45Arg) n.2653T>G | |
1 | g.235806665A>G | CA344957087 | LYST | c.2471T>C (p.Ile824Thr) c.1874T>C (p.Ile625Thr) n.3022T>C c.134T>C (p.Ile45Thr) n.2653T>C | dbSNP |
1 | g.235806665A>T | CA344957089 | LYST | c.2471T>A (p.Ile824Lys) c.1874T>A (p.Ile625Lys) n.3022T>A c.134T>A (p.Ile45Lys) n.2653T>A | |
1 | g.235806666T>A | CA344957090 | LYST | c.2470A>T (p.Ile824Leu) c.1873A>T (p.Ile625Leu) n.3021A>T c.133A>T (p.Ile45Leu) n.2652A>T | |
1 | g.235806666T>C | CA344957092 | LYST | c.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 |
1 | g.235806666T>G | CA39616395 | LYST | c.2470A>C (p.Ile824Leu) c.1873A>C (p.Ile625Leu) n.3021A>C c.133A>C (p.Ile45Leu) n.2652A>C | dbSNP |
1 | g.235806666T= | CA2486650271 | LYST | c.2470A= (p.Ile824=) c.1873A= (p.Ile625=) n.3021A= c.133A= (p.Ile45=) n.2652A= | |
1 | g.235806667C>A | CA424027696 | LYST | c.2469G>T (p.Leu823=) c.1872G>T (p.Leu624=) n.3020G>T c.132G>T (p.Leu44=) n.2651G>T | |
1 | g.235806667C= | CA2486650272 | LYST | c.2469G= (p.Leu823=) c.1872G= (p.Leu624=) n.3020G= c.132G= (p.Leu44=) n.2651G= | |
1 | g.235806667C>G | CA424027694 | LYST | c.2469G>C (p.Leu823=) c.1872G>C (p.Leu624=) n.3020G>C c.132G>C (p.Leu44=) n.2651G>C | |
1 | g.235806667C>T | CA424027690 | LYST | c.2469G>A (p.Leu823=) c.1872G>A (p.Leu624=) n.3020G>A c.132G>A (p.Leu44=) n.2651G>A | ClinVar dbSNP |
1 | g.235806668A>C | CA344957095 | LYST | c.2468T>G (p.Leu823Arg) c.1871T>G (p.Leu624Arg) n.3019T>G c.131T>G (p.Leu44Arg) n.2650T>G | |
1 | g.235806668A>G | CA344957099 | LYST | c.2468T>C (p.Leu823Pro) c.1871T>C (p.Leu624Pro) n.3019T>C c.131T>C (p.Leu44Pro) n.2650T>C | |
1 | g.235806668A>T | CA344957097 | LYST | c.2468T>A (p.Leu823Gln) c.1871T>A (p.Leu624Gln) n.3019T>A c.131T>A (p.Leu44Gln) n.2650T>A | |
1 | g.235806670_235806671del | CA2748227981 | LYST | c.2467_2468del (p.Leu823AspfsTer17) c.1870_1871del (p.Leu624AspfsTer17) n.3018_3019del c.130_131del (p.Leu44AspfsTer17) n.2649_2650del | |
1 | g.235806669G>A | CA424027699 | LYST | c.2467C>T (p.Leu823=) c.1870C>T (p.Leu624=) n.3018C>T c.130C>T (p.Leu44=) n.2649C>T | |
1 | g.235806669G>C | CA344957101 | LYST | c.2467C>G (p.Leu823Val) c.1870C>G (p.Leu624Val) n.3018C>G c.130C>G (p.Leu44Val) n.2649C>G | |
1 | g.235806669G>T | CA344957103 | LYST | c.2467C>A (p.Leu823Met) c.1870C>A (p.Leu624Met) n.3018C>A c.130C>A (p.Leu44Met) n.2649C>A | |
1 | g.235806670A= | CA2486650273 | LYST | c.2466T= (p.Thr822=) c.1869T= (p.Thr623=) n.3017T= c.129T= (p.Thr43=) n.2648T= | |
1 | g.235806670A>C | CA424027702 | LYST | c.2466T>G (p.Thr822=) c.1869T>G (p.Thr623=) n.3017T>G c.129T>G (p.Thr43=) n.2648T>G | ClinVar dbSNP gnomAD v4 |
1 | g.235806670A>G | CA424027703 | LYST | c.2466T>C (p.Thr822=) c.1869T>C (p.Thr623=) n.3017T>C c.129T>C (p.Thr43=) n.2648T>C | |
1 | g.235806670A>T | CA424027705 | LYST | c.2466T>A (p.Thr822=) c.1869T>A (p.Thr623=) n.3017T>A c.129T>A (p.Thr43=) n.2648T>A | |
1 | g.235806671G>A | CA1467270 | LYST | c.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 |
1 | g.235806671G>C | CA344957107 | LYST | c.2465C>G (p.Thr822Ser) c.1868C>G (p.Thr623Ser) n.3016C>G c.128C>G (p.Thr43Ser) n.2647C>G | |
1 | g.235806671G= | CA1143372684 | LYST | c.2465C= (p.Thr822=) c.1868C= (p.Thr623=) n.3016C= c.128C= (p.Thr43=) n.2647C= | |
1 | g.235806671G>T | CA344957109 | LYST | c.2465C>A (p.Thr822Asn) c.1868C>A (p.Thr623Asn) n.3016C>A c.128C>A (p.Thr43Asn) n.2647C>A | |
1 | g.235806672T>A | CA344957111 | LYST | c.2464A>T (p.Thr822Ser) c.1867A>T (p.Thr623Ser) n.3015A>T c.127A>T (p.Thr43Ser) n.2646A>T | |
1 | g.235806672T>C | CA344957112 | LYST | c.2464A>G (p.Thr822Ala) c.1867A>G (p.Thr623Ala) n.3015A>G c.127A>G (p.Thr43Ala) n.2646A>G | |
1 | g.235806672T>G | CA344957114 | LYST | c.2464A>C (p.Thr822Pro) c.1867A>C (p.Thr623Pro) n.3015A>C c.127A>C (p.Thr43Pro) n.2646A>C | |
1 | g.235806673T>A | CA344957115 | LYST | c.2463A>T (p.Glu821Asp) c.1866A>T (p.Glu622Asp) n.3014A>T c.126A>T (p.Glu42Asp) n.2645A>T | |
1 | g.235806673T>C | CA39616400 | LYST | c.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 |
1 | g.235806673T>G | CA344957118 | LYST | c.2463A>C (p.Glu821Asp) c.1866A>C (p.Glu622Asp) n.3014A>C c.126A>C (p.Glu42Asp) n.2645A>C | |
1 | g.235806673T= | CA1147623610 | LYST | c.2463A= (p.Glu821=) c.1866A= (p.Glu622=) n.3014A= c.126A= (p.Glu42=) n.2645A= | |
1 | g.235806674T>A | CA344957125 | LYST | c.2462A>T (p.Glu821Val) c.1865A>T (p.Glu622Val) n.3013A>T c.125A>T (p.Glu42Val) n.2644A>T | |
1 | g.235806674T>C | CA344957124 | LYST | c.2462A>G (p.Glu821Gly) c.1865A>G (p.Glu622Gly) n.3013A>G c.125A>G (p.Glu42Gly) n.2644A>G | |
1 | g.235806674T>G | CA344957122 | LYST | c.2462A>C (p.Glu821Ala) c.1865A>C (p.Glu622Ala) n.3013A>C c.125A>C (p.Glu42Ala) n.2644A>C | gnomAD v4 |
1 | g.235806675C>A | CA344957126 | LYST | c.2461G>T (p.Glu821Ter) c.1864G>T (p.Glu622Ter) n.3012G>T c.124G>T (p.Glu42Ter) n.2643G>T | |
1 | g.235806675C>G | CA344957128 | LYST | c.2461G>C (p.Glu821Gln) c.1864G>C (p.Glu622Gln) n.3012G>C c.124G>C (p.Glu42Gln) n.2643G>C | |
1 | g.235806675C>T | CA344957130 | LYST | c.2461G>A (p.Glu821Lys) c.1864G>A (p.Glu622Lys) n.3012G>A c.124G>A (p.Glu42Lys) n.2643G>A | |
1 | g.235806676A= | CA1140562640 | LYST | c.2460T= (p.Phe820=) c.1863T= (p.Phe621=) n.3011T= c.123T= (p.Phe41=) n.2642T= | |
1 | g.235806676A>C | CA1467271 | LYST | c.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 |
1 | g.235806676A>G | CA424027716 | LYST | c.2460T>C (p.Phe820=) c.1863T>C (p.Phe621=) n.3011T>C c.123T>C (p.Phe41=) n.2642T>C | |
1 | g.235806676A>T | CA344957133 | LYST | c.2460T>A (p.Phe820Leu) c.1863T>A (p.Phe621Leu) n.3011T>A c.123T>A (p.Phe41Leu) n.2642T>A | |
1 | g.235806677A>C | CA344957135 | LYST | c.2459T>G (p.Phe820Cys) c.1862T>G (p.Phe621Cys) n.3010T>G c.122T>G (p.Phe41Cys) n.2641T>G | |
1 | g.235806677A>G | CA344957137 | LYST | c.2459T>C (p.Phe820Ser) c.1862T>C (p.Phe621Ser) n.3010T>C c.122T>C (p.Phe41Ser) n.2641T>C | |
1 | g.235806677A>T | CA344957139 | LYST | c.2459T>A (p.Phe820Tyr) c.1862T>A (p.Phe621Tyr) n.3010T>A c.122T>A (p.Phe41Tyr) n.2641T>A | |
1 | g.235806678A>C | CA344957142 | LYST | c.2458T>G (p.Phe820Val) c.1861T>G (p.Phe621Val) n.3009T>G c.121T>G (p.Phe41Val) n.2640T>G | |
1 | g.235806678A>G | CA344957144 | LYST | c.2458T>C (p.Phe820Leu) c.1861T>C (p.Phe621Leu) n.3009T>C c.121T>C (p.Phe41Leu) n.2640T>C | |
1 | g.235806678A>T | CA344957145 | LYST | c.2458T>A (p.Phe820Ile) c.1861T>A (p.Phe621Ile) n.3009T>A c.121T>A (p.Phe41Ile) n.2640T>A | |
1 | g.235806679T>A | CA424027725 | LYST | c.2457A>T (p.Ala819=) c.1860A>T (p.Ala620=) n.3008A>T c.120A>T (p.Ala40=) n.2639A>T | |
1 | g.235806679T>C | CA39616404 | LYST | c.2457A>G (p.Ala819=) c.1860A>G (p.Ala620=) n.3008A>G c.120A>G (p.Ala40=) n.2639A>G | dbSNP gnomAD v4 |
1 | g.235806679T>G | CA424027727 | LYST | c.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 |
1 | g.235806679T= | CA1143728931 | LYST | c.2457A= (p.Ala819=) c.1860A= (p.Ala620=) n.3008A= c.120A= (p.Ala40=) n.2639A= | |
1 | g.235806680G>A | CA344957155 | LYST | c.2456C>T (p.Ala819Val) c.1859C>T (p.Ala620Val) n.3007C>T c.119C>T (p.Ala40Val) n.2638C>T | |
1 | g.235806680G>C | CA344957149 | LYST | c.2456C>G (p.Ala819Gly) c.1859C>G (p.Ala620Gly) n.3007C>G c.119C>G (p.Ala40Gly) n.2638C>G | |
1 | g.235806680G>T | CA344957147 | LYST | c.2456C>A (p.Ala819Glu) c.1859C>A (p.Ala620Glu) n.3007C>A c.119C>A (p.Ala40Glu) n.2638C>A | |
1 | g.235806681C>A | CA344957159 | LYST | c.2455G>T (p.Ala819Ser) c.1858G>T (p.Ala620Ser) n.3006G>T c.118G>T (p.Ala40Ser) n.2637G>T | |
1 | g.235806681C= | CA1141782553 | LYST | c.2455G= (p.Ala819=) c.1858G= (p.Ala620=) n.3006G= c.118G= (p.Ala40=) n.2637G= | |
1 | g.235806681C>G | CA344957157 | LYST | c.2455G>C (p.Ala819Pro) c.1858G>C (p.Ala620Pro) n.3006G>C c.118G>C (p.Ala40Pro) n.2637G>C | |
1 | g.235806681C>T | CA1467272 | LYST | c.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 |
1 | g.235806681_235806682delinsCT | CA2486650274 | LYST | c.2454_2455delinsAG (p.Lys818=) c.1857_1858delinsAG (p.Lys619=) n.3005_3006delinsAG c.117_118delinsAG (p.Lys39=) n.2636_2637delinsAG | |
1 | g.235806682T>A | CA344957162 | LYST | c.2454A>T (p.Lys818Asn) c.1857A>T (p.Lys619Asn) n.3005A>T c.117A>T (p.Lys39Asn) n.2636A>T | |
1 | g.235806682T>C | CA424027732 | LYST | c.2454A>G (p.Lys818=) c.1857A>G (p.Lys619=) n.3005A>G c.117A>G (p.Lys39=) n.2636A>G | |
1 | g.235806682T>G | CA344957164 | LYST | c.2454A>C (p.Lys818Asn) c.1857A>C (p.Lys619Asn) n.3005A>C c.117A>C (p.Lys39Asn) n.2636A>C | |
1 | g.235806682_235806685delinsTTTT | CA1141188443 | LYST | c.2451_2454delinsAAAA (p.Leu817=) c.1854_1857delinsAAAA (p.Leu618=) n.3002_3005delinsAAAA c.114_117delinsAAAA (p.Leu38=) n.2633_2636delinsAAAA | |
1 | g.235806685del | CA344845 | LYST | c.2454del (p.Ala819HisfsTer5) c.1857del (p.Ala620HisfsTer5) n.3005del c.117del (p.Ala40HisfsTer5) n.2636del | ClinVar dbSNP gnomAD v4 |
1 | g.235806683T>A | CA1467273 | LYST | c.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 |
1 | g.235806683T>C | CA344957168 | LYST | c.2453A>G (p.Lys818Arg) c.1856A>G (p.Lys619Arg) n.3004A>G c.116A>G (p.Lys39Arg) n.2635A>G | |
1 | g.235806683T>G | CA344957170 | LYST | c.2453A>C (p.Lys818Thr) c.1856A>C (p.Lys619Thr) n.3004A>C c.116A>C (p.Lys39Thr) n.2635A>C | |
1 | g.235806683T= | CA1145171490 | LYST | c.2453A= (p.Lys818=) c.1856A= (p.Lys619=) n.3004A= c.116A= (p.Lys39=) n.2635A= | |
1 | g.235806684T>A | CA344957172 | LYST | c.2452A>T (p.Lys818Ter) c.1855A>T (p.Lys619Ter) n.3003A>T c.115A>T (p.Lys39Ter) n.2634A>T | |
1 | g.235806684T>C | CA344957174 | LYST | c.2452A>G (p.Lys818Glu) c.1855A>G (p.Lys619Glu) n.3003A>G c.115A>G (p.Lys39Glu) n.2634A>G | |
1 | g.235806684T>G | CA344957176 | LYST | c.2452A>C (p.Lys818Gln) c.1855A>C (p.Lys619Gln) n.3003A>C c.115A>C (p.Lys39Gln) n.2634A>C | |
1 | g.235806685T>A | CA424027737 | LYST | c.2451A>T (p.Leu817=) c.1854A>T (p.Leu618=) n.3002A>T c.114A>T (p.Leu38=) n.2633A>T | |
1 | g.235806685T>C | CA1467274 | LYST | c.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 |
1 | g.235806685T>G | CA424027738 | LYST | c.2451A>C (p.Leu817=) c.1854A>C (p.Leu618=) n.3002A>C c.114A>C (p.Leu38=) n.2633A>C | |
1 | g.235806685T= | CA1146081562 | LYST | c.2451A= (p.Leu817=) c.1854A= (p.Leu618=) n.3002A= c.114A= (p.Leu38=) n.2633A= | |
1 | g.235806686A>C | CA344957179 | LYST | c.2450T>G (p.Leu817Arg) c.1853T>G (p.Leu618Arg) n.3001T>G c.113T>G (p.Leu38Arg) n.2632T>G | |
1 | g.235806686A>G | CA344957181 | LYST | c.2450T>C (p.Leu817Pro) c.1853T>C (p.Leu618Pro) n.3001T>C c.113T>C (p.Leu38Pro) n.2632T>C | |
1 | g.235806686A>T | CA344957182 | LYST | c.2450T>A (p.Leu817Gln) c.1853T>A (p.Leu618Gln) n.3001T>A c.113T>A (p.Leu38Gln) n.2632T>A | |
1 | g.235806687G>A | CA424027742 | LYST | c.2449C>T (p.Leu817=) c.1852C>T (p.Leu618=) n.3000C>T c.112C>T (p.Leu38=) n.2631C>T | |
1 | g.235806687G>C | CA344957184 | LYST | c.2449C>G (p.Leu817Val) c.1852C>G (p.Leu618Val) n.3000C>G c.112C>G (p.Leu38Val) n.2631C>G | |
1 | g.235806687G>T | CA344957186 | LYST | c.2449C>A (p.Leu817Ile) c.1852C>A (p.Leu618Ile) n.3000C>A c.112C>A (p.Leu38Ile) n.2631C>A | |
1 | g.235806688A>C | CA424027743 | LYST | c.2448T>G (p.Ser816=) c.1851T>G (p.Ser617=) n.2999T>G c.111T>G (p.Ser37=) n.2630T>G | |
1 | g.235806688A>G | CA424027744 | LYST | c.2448T>C (p.Ser816=) c.1851T>C (p.Ser617=) n.2999T>C c.111T>C (p.Ser37=) n.2630T>C | |
1 | g.235806688A>T | CA424027746 | LYST | c.2448T>A (p.Ser816=) c.1851T>A (p.Ser617=) n.2999T>A c.111T>A (p.Ser37=) n.2630T>A | |
1 | g.235806689G>A | CA344957188 | LYST | c.2447C>T (p.Ser816Phe) c.1850C>T (p.Ser617Phe) n.2998C>T c.110C>T (p.Ser37Phe) n.2629C>T | COSMIC |
1 | g.235806689G>C | CA344957191 | LYST | c.2447C>G (p.Ser816Cys) c.1850C>G (p.Ser617Cys) n.2998C>G c.110C>G (p.Ser37Cys) n.2629C>G | |
1 | g.235806689G>T | CA344957193 | LYST | c.2447C>A (p.Ser816Tyr) c.1850C>A (p.Ser617Tyr) n.2998C>A c.110C>A (p.Ser37Tyr) n.2629C>A | |
1 | g.235806690A>C | CA344957196 | LYST | c.2446T>G (p.Ser816Ala) c.1849T>G (p.Ser617Ala) n.2997T>G c.109T>G (p.Ser37Ala) n.2628T>G | |
1 | g.235806690A>G | CA344957198 | LYST | c.2446T>C (p.Ser816Pro) c.1849T>C (p.Ser617Pro) n.2997T>C c.109T>C (p.Ser37Pro) n.2628T>C | |
1 | g.235806690A>T | CA344957199 | LYST | c.2446T>A (p.Ser816Thr) c.1849T>A (p.Ser617Thr) n.2997T>A c.109T>A (p.Ser37Thr) n.2628T>A | |
1 | g.235806691A= | CA2486650275 | LYST | c.2445T= (p.His815=) c.1848T= (p.His616=) n.2996T= c.108T= (p.His36=) n.2627T= | |
1 | g.235806691A>C | CA344957201 | LYST | c.2445T>G (p.His815Gln) c.1848T>G (p.His616Gln) n.2996T>G c.108T>G (p.His36Gln) n.2627T>G | |
1 | g.235806691A>G | CA424027755 | LYST | c.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 |
1 | g.235806691A>T | CA344957202 | LYST | c.2445T>A (p.His815Gln) c.1848T>A (p.His616Gln) n.2996T>A c.108T>A (p.His36Gln) n.2627T>A | |
1 | g.235806692T>A | CA344957205 | LYST | c.2444A>T (p.His815Leu) c.1847A>T (p.His616Leu) n.2995A>T c.107A>T (p.His36Leu) n.2626A>T | dbSNP |
1 | g.235806692T>C | CA344957206 | LYST | c.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 |
1 | g.235806692T>G | CA344957208 | LYST | c.2444A>C (p.His815Pro) c.1847A>C (p.His616Pro) n.2995A>C c.107A>C (p.His36Pro) n.2626A>C | |
1 | g.235806692T= | CA2486650276 | LYST | c.2444A= (p.His815=) c.1847A= (p.His616=) n.2995A= c.107A= (p.His36=) n.2626A= | |
1 | g.235806693G>A | CA1467275 | LYST | c.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 |
1 | g.235806693G>C | CA344957213 | LYST | c.2443C>G (p.His815Asp) c.1846C>G (p.His616Asp) n.2994C>G c.106C>G (p.His36Asp) n.2625C>G | |
1 | g.235806693G= | CA1141825534 | LYST | c.2443C= (p.His815=) c.1846C= (p.His616=) n.2994C= c.106C= (p.His36=) n.2625C= | |
1 | g.235806693G>T | CA344957210 | LYST | c.2443C>A (p.His815Asn) c.1846C>A (p.His616Asn) n.2994C>A c.106C>A (p.His36Asn) n.2625C>A | gnomAD v4 |
1 | g.235806694A= | CA1144178428 | LYST | c.2442T= (p.Ser814=) c.1845T= (p.Ser615=) n.2993T= c.105T= (p.Ser35=) n.2624T= | |
1 | g.235806694A>C | CA344957216 | LYST | c.2442T>G (p.Ser814Arg) c.1845T>G (p.Ser615Arg) n.2993T>G c.105T>G (p.Ser35Arg) n.2624T>G | gnomAD v4 |
1 | g.235806694A>G | CA1467277 | LYST | c.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 |
1 | g.235806694A>T | CA1467276 | LYST | c.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 |
1 | g.235806695C>A | CA39616419 | LYST | c.2441G>T (p.Ser814Ile) c.1844G>T (p.Ser615Ile) n.2992G>T c.104G>T (p.Ser35Ile) n.2623G>T | dbSNP |
1 | g.235806695C= | CA1143746821 | LYST | c.2441G= (p.Ser814=) c.1844G= (p.Ser615=) n.2992G= c.104G= (p.Ser35=) n.2623G= | |
1 | g.235806695C>G | CA344957224 | LYST | c.2441G>C (p.Ser814Thr) c.1844G>C (p.Ser615Thr) n.2992G>C c.104G>C (p.Ser35Thr) n.2623G>C | |
1 | g.235806695C>T | CA344957226 | LYST | c.2441G>A (p.Ser814Asn) c.1844G>A (p.Ser615Asn) n.2992G>A c.104G>A (p.Ser35Asn) n.2623G>A |