Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.235806695C>ACA39616419LYSTc.2441G>T (p.Ser814Ile)
c.1844G>T (p.Ser615Ile)
n.2992G>T
c.104G>T (p.Ser35Ile)
n.2623G>T
 dbSNP
1g.235806695C=CA1143746821LYSTc.2441G= (p.Ser814=)
c.1844G= (p.Ser615=)
n.2992G=
c.104G= (p.Ser35=)
n.2623G=
1g.235806695C>GCA344957224LYSTc.2441G>C (p.Ser814Thr)
c.1844G>C (p.Ser615Thr)
n.2992G>C
c.104G>C (p.Ser35Thr)
n.2623G>C
1g.235806695C>TCA344957226LYSTc.2441G>A (p.Ser814Asn)
c.1844G>A (p.Ser615Asn)
n.2992G>A
c.104G>A (p.Ser35Asn)
n.2623G>A
1g.235806696T>ACA344957230LYSTc.2440A>T (p.Ser814Cys)
c.1843A>T (p.Ser615Cys)
n.2991A>T
c.103A>T (p.Ser35Cys)
n.2622A>T
1g.235806696T>CCA344957232LYSTc.2440A>G (p.Ser814Gly)
c.1843A>G (p.Ser615Gly)
n.2991A>G
c.103A>G (p.Ser35Gly)
n.2622A>G
1g.235806696T>GCA344957233LYSTc.2440A>C (p.Ser814Arg)
c.1843A>C (p.Ser615Arg)
n.2991A>C
c.103A>C (p.Ser35Arg)
n.2622A>C
 ClinVar dbSNP
1g.235806697T>ACA424027769LYSTc.2439A>T (p.Arg813=)
c.1842A>T (p.Arg614=)
n.2990A>T
c.102A>T (p.Arg34=)
n.2621A>T
1g.235806697T>CCA424027771LYSTc.2439A>G (p.Arg813=)
c.1842A>G (p.Arg614=)
n.2990A>G
c.102A>G (p.Arg34=)
n.2621A>G
1g.235806697T>GCA424027768LYSTc.2439A>C (p.Arg813=)
c.1842A>C (p.Arg614=)
n.2990A>C
c.102A>C (p.Arg34=)
n.2621A>C
 ClinVar dbSNP gnomAD v4
1g.235806697T=CA2486650277LYSTc.2439A= (p.Arg813=)
c.1842A= (p.Arg614=)
n.2990A=
c.102A= (p.Arg34=)
n.2621A=
1g.235806698C>ACA1467279LYSTc.2438G>T (p.Arg813Leu)
c.1841G>T (p.Arg614Leu)
n.2989G>T
c.101G>T (p.Arg34Leu)
n.2620G>T
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
1g.235806698C=CA1146590693LYSTc.2438G= (p.Arg813=)
c.1841G= (p.Arg614=)
n.2989G=
c.101G= (p.Arg34=)
n.2620G=
1g.235806698C>GCA344957238LYSTc.2438G>C (p.Arg813Pro)
c.1841G>C (p.Arg614Pro)
n.2989G>C
c.101G>C (p.Arg34Pro)
n.2620G>C
1g.235806698C>TCA1467278LYSTc.2438G>A (p.Arg813Gln)
c.1841G>A (p.Arg614Gln)
n.2989G>A
c.101G>A (p.Arg34Gln)
n.2620G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.235806699delCA2580062476LYSTc.2437del (p.Arg813GlufsTer5)
c.1840del (p.Arg614GlufsTer5)
n.2988del
c.100del (p.Arg34GlufsTer5)
n.2619del
 ClinVar
1g.235806699G>ACA344957241LYSTc.2437C>T (p.Arg813Ter)
c.1840C>T (p.Arg614Ter)
n.2988C>T
c.100C>T (p.Arg34Ter)
n.2619C>T
 ClinVar gnomAD v4
1g.235806699G>CCA344957243LYSTc.2437C>G (p.Arg813Gly)
c.1840C>G (p.Arg614Gly)
n.2988C>G
c.100C>G (p.Arg34Gly)
n.2619C>G
1g.235806699G>TCA424027778LYSTc.2437C>A (p.Arg813=)
c.1840C>A (p.Arg614=)
n.2988C>A
c.100C>A (p.Arg34=)
n.2619C>A
1g.235806700A>CCA344957245LYSTc.2436T>G (p.Ile812Met)
c.1839T>G (p.Ile613Met)
n.2987T>G
c.99T>G (p.Ile33Met)
n.2618T>G
1g.235806700A>GCA424027779LYSTc.2436T>C (p.Ile812=)
c.1839T>C (p.Ile613=)
n.2987T>C
c.99T>C (p.Ile33=)
n.2618T>C
1g.235806700A>TCA424027780LYSTc.2436T>A (p.Ile812=)
c.1839T>A (p.Ile613=)
n.2987T>A
c.99T>A (p.Ile33=)
n.2618T>A
1g.235806701A>CCA344957247LYSTc.2435T>G (p.Ile812Ser)
c.1838T>G (p.Ile613Ser)
n.2986T>G
c.98T>G (p.Ile33Ser)
n.2617T>G
1g.235806701A>GCA344957250LYSTc.2435T>C (p.Ile812Thr)
c.1838T>C (p.Ile613Thr)
n.2986T>C
c.98T>C (p.Ile33Thr)
n.2617T>C
1g.235806701A>TCA344957251LYSTc.2435T>A (p.Ile812Asn)
c.1838T>A (p.Ile613Asn)
n.2986T>A
c.98T>A (p.Ile33Asn)
n.2617T>A
1g.235806702T>ACA344957252LYSTc.2434A>T (p.Ile812Phe)
c.1837A>T (p.Ile613Phe)
n.2985A>T
c.97A>T (p.Ile33Phe)
n.2616A>T
1g.235806702T>CCA1467280LYSTc.2434A>G (p.Ile812Val)
c.1837A>G (p.Ile613Val)
n.2985A>G
c.97A>G (p.Ile33Val)
n.2616A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806702T>GCA344957253LYSTc.2434A>C (p.Ile812Leu)
c.1837A>C (p.Ile613Leu)
n.2985A>C
c.97A>C (p.Ile33Leu)
n.2616A>C
1g.235806702T=CA2486650278LYSTc.2434A= (p.Ile812=)
c.1837A= (p.Ile613=)
n.2985A=
c.97A= (p.Ile33=)
n.2616A=
1g.235806703A=CA2486650279LYSTc.2433T= (p.Gly811=)
c.1836T= (p.Gly612=)
n.2984T=
c.96T= (p.Gly32=)
n.2615T=
1g.235806703A>CCA424027784LYSTc.2433T>G (p.Gly811=)
c.1836T>G (p.Gly612=)
n.2984T>G
c.96T>G (p.Gly32=)
n.2615T>G
 ClinVar dbSNP gnomAD v4
1g.235806703A>GCA424027787LYSTc.2433T>C (p.Gly811=)
c.1836T>C (p.Gly612=)
n.2984T>C
c.96T>C (p.Gly32=)
n.2615T>C
 gnomAD v4
1g.235806703A>TCA424027783LYSTc.2433T>A (p.Gly811=)
c.1836T>A (p.Gly612=)
n.2984T>A
c.96T>A (p.Gly32=)
n.2615T>A
1g.235806704C>ACA1467281LYSTc.2432G>T (p.Gly811Val)
c.1835G>T (p.Gly612Val)
n.2983G>T
c.95G>T (p.Gly32Val)
n.2614G>T
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806704C=CA2486650280LYSTc.2432G= (p.Gly811=)
c.1835G= (p.Gly612=)
n.2983G=
c.95G= (p.Gly32=)
n.2614G=
1g.235806704C>GCA344957254LYSTc.2432G>C (p.Gly811Ala)
c.1835G>C (p.Gly612Ala)
n.2983G>C
c.95G>C (p.Gly32Ala)
n.2614G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806704C>TCA344957255LYSTc.2432G>A (p.Gly811Asp)
c.1835G>A (p.Gly612Asp)
n.2983G>A
c.95G>A (p.Gly32Asp)
n.2614G>A
1g.235806705C>ACA344957256LYSTc.2431G>T (p.Gly811Cys)
c.1834G>T (p.Gly612Cys)
n.2982G>T
c.94G>T (p.Gly32Cys)
n.2613G>T
 dbSNP gnomAD v2 gnomAD v4
1g.235806705C=CA2486650281LYSTc.2431G= (p.Gly811=)
c.1834G= (p.Gly612=)
n.2982G=
c.94G= (p.Gly32=)
n.2613G=
1g.235806705C>GCA344957257LYSTc.2431G>C (p.Gly811Arg)
c.1834G>C (p.Gly612Arg)
n.2982G>C
c.94G>C (p.Gly32Arg)
n.2613G>C
1g.235806705C>TCA344957258LYSTc.2431G>A (p.Gly811Ser)
c.1834G>A (p.Gly612Ser)
n.2982G>A
c.94G>A (p.Gly32Ser)
n.2613G>A
 dbSNP gnomAD v2 gnomAD v4
1g.235806706A=CA2486650282LYSTc.2430T= (p.Asn810=)
c.1833T= (p.Asn611=)
n.2981T=
c.93T= (p.Asn31=)
n.2612T=
1g.235806706A>CCA344957259LYSTc.2430T>G (p.Asn810Lys)
c.1833T>G (p.Asn611Lys)
n.2981T>G
c.93T>G (p.Asn31Lys)
n.2612T>G
1g.235806706A>GCA424027796LYSTc.2430T>C (p.Asn810=)
c.1833T>C (p.Asn611=)
n.2981T>C
c.93T>C (p.Asn31=)
n.2612T>C
 dbSNP gnomAD v2 gnomAD v4
1g.235806706A>TCA344957260LYSTc.2430T>A (p.Asn810Lys)
c.1833T>A (p.Asn611Lys)
n.2981T>A
c.93T>A (p.Asn31Lys)
n.2612T>A
1g.235806707T>ACA344957262LYSTc.2429A>T (p.Asn810Ile)
c.1832A>T (p.Asn611Ile)
n.2980A>T
c.92A>T (p.Asn31Ile)
n.2611A>T
1g.235806707T>CCA344957263LYSTc.2429A>G (p.Asn810Ser)
c.1832A>G (p.Asn611Ser)
n.2980A>G
c.92A>G (p.Asn31Ser)
n.2611A>G
 gnomAD v4
1g.235806707T>GCA344957261LYSTc.2429A>C (p.Asn810Thr)
c.1832A>C (p.Asn611Thr)
n.2980A>C
c.92A>C (p.Asn31Thr)
n.2611A>C
1g.235806708T>ACA344957264LYSTc.2428A>T (p.Asn810Tyr)
c.1831A>T (p.Asn611Tyr)
n.2979A>T
c.91A>T (p.Asn31Tyr)
n.2610A>T
1g.235806708T>CCA344957266LYSTc.2428A>G (p.Asn810Asp)
c.1831A>G (p.Asn611Asp)
n.2979A>G
c.91A>G (p.Asn31Asp)
n.2610A>G
1g.235806708T>GCA344957265LYSTc.2428A>C (p.Asn810His)
c.1831A>C (p.Asn611His)
n.2979A>C
c.91A>C (p.Asn31His)
n.2610A>C
1g.235806709T>ACA344957267LYSTc.2427A>T (p.Leu809Phe)
c.1830A>T (p.Leu610Phe)
n.2978A>T
c.90A>T (p.Leu30Phe)
n.2609A>T
1g.235806709T>CCA424027798LYSTc.2427A>G (p.Leu809=)
c.1830A>G (p.Leu610=)
n.2978A>G
c.90A>G (p.Leu30=)
n.2609A>G
1g.235806709T>GCA344957268LYSTc.2427A>C (p.Leu809Phe)
c.1830A>C (p.Leu610Phe)
n.2978A>C
c.90A>C (p.Leu30Phe)
n.2609A>C
1g.235806710A>CCA344957269LYSTc.2426T>G (p.Leu809Ter)
c.1829T>G (p.Leu610Ter)
n.2977T>G
c.89T>G (p.Leu30Ter)
n.2608T>G
 gnomAD v4
1g.235806710A>GCA344957271LYSTc.2426T>C (p.Leu809Ser)
c.1829T>C (p.Leu610Ser)
n.2977T>C
c.89T>C (p.Leu30Ser)
n.2608T>C
 gnomAD v4
1g.235806710A>TCA344957270LYSTc.2426T>A (p.Leu809Ter)
c.1829T>A (p.Leu610Ter)
n.2977T>A
c.89T>A (p.Leu30Ter)
n.2608T>A
1g.235806711A=CA2486650283LYSTc.2425T= (p.Leu809=)
c.1828T= (p.Leu610=)
n.2976T=
c.88T= (p.Leu30=)
n.2607T=
1g.235806711A>CCA344957272LYSTc.2425T>G (p.Leu809Val)
c.1828T>G (p.Leu610Val)
n.2976T>G
c.88T>G (p.Leu30Val)
n.2607T>G
1g.235806711A>GCA1467282LYSTc.2425T>C (p.Leu809=)
c.1828T>C (p.Leu610=)
n.2976T>C
c.88T>C (p.Leu30=)
n.2607T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806711A>TCA344957273LYSTc.2425T>A (p.Leu809Ile)
c.1828T>A (p.Leu610Ile)
n.2976T>A
c.88T>A (p.Leu30Ile)
n.2607T>A
1g.235806712G>ACA424027803LYSTc.2424C>T (p.Cys808=)
c.1827C>T (p.Cys609=)
n.2975C>T
c.87C>T (p.Cys29=)
n.2606C>T
1g.235806712G>CCA344957274LYSTc.2424C>G (p.Cys808Trp)
c.1827C>G (p.Cys609Trp)
n.2975C>G
c.87C>G (p.Cys29Trp)
n.2606C>G
1g.235806712G>TCA344957275LYSTc.2424C>A (p.Cys808Ter)
c.1827C>A (p.Cys609Ter)
n.2975C>A
c.87C>A (p.Cys29Ter)
n.2606C>A
1g.235806713C>ACA344957276LYSTc.2423G>T (p.Cys808Phe)
c.1826G>T (p.Cys609Phe)
n.2974G>T
c.86G>T (p.Cys29Phe)
n.2605G>T
1g.235806713C>GCA344957277LYSTc.2423G>C (p.Cys808Ser)
c.1826G>C (p.Cys609Ser)
n.2974G>C
c.86G>C (p.Cys29Ser)
n.2605G>C
1g.235806713C>TCA344957278LYSTc.2423G>A (p.Cys808Tyr)
c.1826G>A (p.Cys609Tyr)
n.2974G>A
c.86G>A (p.Cys29Tyr)
n.2605G>A
 dbSNP
1g.235806714A>CCA344957279LYSTc.2422T>G (p.Cys808Gly)
c.1825T>G (p.Cys609Gly)
n.2973T>G
c.85T>G (p.Cys29Gly)
n.2604T>G
1g.235806714A>GCA344957280LYSTc.2422T>C (p.Cys808Arg)
c.1825T>C (p.Cys609Arg)
n.2973T>C
c.85T>C (p.Cys29Arg)
n.2604T>C
1g.235806714A>TCA344957281LYSTc.2422T>A (p.Cys808Ser)
c.1825T>A (p.Cys609Ser)
n.2973T>A
c.85T>A (p.Cys29Ser)
n.2604T>A
1g.235806715A>CCA344957283LYSTc.2421T>G (p.Asn807Lys)
c.1824T>G (p.Asn608Lys)
n.2972T>G
c.84T>G (p.Asn28Lys)
n.2603T>G
1g.235806715A>GCA424027815LYSTc.2421T>C (p.Asn807=)
c.1824T>C (p.Asn608=)
n.2972T>C
c.84T>C (p.Asn28=)
n.2603T>C
1g.235806715A>TCA344957282LYSTc.2421T>A (p.Asn807Lys)
c.1824T>A (p.Asn608Lys)
n.2972T>A
c.84T>A (p.Asn28Lys)
n.2603T>A
1g.235806716T>ACA344957284LYSTc.2420A>T (p.Asn807Ile)
c.1823A>T (p.Asn608Ile)
n.2971A>T
c.83A>T (p.Asn28Ile)
n.2602A>T
1g.235806716T>CCA344957285LYSTc.2420A>G (p.Asn807Ser)
c.1823A>G (p.Asn608Ser)
n.2971A>G
c.83A>G (p.Asn28Ser)
n.2602A>G
1g.235806716T>GCA344957286LYSTc.2420A>C (p.Asn807Thr)
c.1823A>C (p.Asn608Thr)
n.2971A>C
c.83A>C (p.Asn28Thr)
n.2602A>C
1g.235806717T>ACA344957287LYSTc.2419A>T (p.Asn807Tyr)
c.1822A>T (p.Asn608Tyr)
n.2970A>T
c.82A>T (p.Asn28Tyr)
n.2601A>T
1g.235806717T>CCA344957288LYSTc.2419A>G (p.Asn807Asp)
c.1822A>G (p.Asn608Asp)
n.2970A>G
c.82A>G (p.Asn28Asp)
n.2601A>G
 dbSNP
1g.235806717T>GCA344957289LYSTc.2419A>C (p.Asn807His)
c.1822A>C (p.Asn608His)
n.2970A>C
c.82A>C (p.Asn28His)
n.2601A>C
1g.235806717T=CA2486650284LYSTc.2419A= (p.Asn807=)
c.1822A= (p.Asn608=)
n.2970A=
c.82A= (p.Asn28=)
n.2601A=
1g.235806718T>ACA344957290LYSTc.2418A>T (p.Leu806Phe)
c.1821A>T (p.Leu607Phe)
n.2969A>T
c.81A>T (p.Leu27Phe)
n.2600A>T
1g.235806718T>CCA424027819LYSTc.2418A>G (p.Leu806=)
c.1821A>G (p.Leu607=)
n.2969A>G
c.81A>G (p.Leu27=)
n.2600A>G
1g.235806718T>GCA344957291LYSTc.2418A>C (p.Leu806Phe)
c.1821A>C (p.Leu607Phe)
n.2969A>C
c.81A>C (p.Leu27Phe)
n.2600A>C
1g.235806719A>CCA344957292LYSTc.2417T>G (p.Leu806Ter)
c.1820T>G (p.Leu607Ter)
n.2968T>G
c.80T>G (p.Leu27Ter)
n.2599T>G
1g.235806719A>GCA344957293LYSTc.2417T>C (p.Leu806Ser)
c.1820T>C (p.Leu607Ser)
n.2968T>C
c.80T>C (p.Leu27Ser)
n.2599T>C
 gnomAD v4
1g.235806719A>TCA344957294LYSTc.2417T>A (p.Leu806Ter)
c.1820T>A (p.Leu607Ter)
n.2968T>A
c.80T>A (p.Leu27Ter)
n.2599T>A
1g.235806720A=CA2486650285LYSTc.2416T= (p.Leu806=)
c.1819T= (p.Leu607=)
n.2967T=
c.79T= (p.Leu27=)
n.2598T=
1g.235806720A>CCA344957296LYSTc.2416T>G (p.Leu806Val)
c.1819T>G (p.Leu607Val)
n.2967T>G
c.79T>G (p.Leu27Val)
n.2598T>G
1g.235806720A>GCA1467283LYSTc.2416T>C (p.Leu806=)
c.1819T>C (p.Leu607=)
n.2967T>C
c.79T>C (p.Leu27=)
n.2598T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806720A>TCA344957295LYSTc.2416T>A (p.Leu806Ile)
c.1819T>A (p.Leu607Ile)
n.2967T>A
c.79T>A (p.Leu27Ile)
n.2598T>A
1g.235806721T>ACA344957822LYSTc.2415A>T (p.Glu805Asp)
c.1818A>T (p.Glu606Asp)
n.2966A>T
c.78A>T (p.Glu26Asp)
n.2597A>T
1g.235806721T>CCA423775457LYSTc.2415A>G (p.Glu805=)
c.1818A>G (p.Glu606=)
n.2966A>G
c.78A>G (p.Glu26=)
n.2597A>G
1g.235806721T>GCA344957827LYSTc.2415A>C (p.Glu805Asp)
c.1818A>C (p.Glu606Asp)
n.2966A>C
c.78A>C (p.Glu26Asp)
n.2597A>C
 gnomAD v4
1g.235806722T>ACA344957831LYSTc.2414A>T (p.Glu805Val)
c.1817A>T (p.Glu606Val)
n.2965A>T
c.77A>T (p.Glu26Val)
n.2596A>T
1g.235806722T>CCA344957834LYSTc.2414A>G (p.Glu805Gly)
c.1817A>G (p.Glu606Gly)
n.2965A>G
c.77A>G (p.Glu26Gly)
n.2596A>G
1g.235806722T>GCA344957837LYSTc.2414A>C (p.Glu805Ala)
c.1817A>C (p.Glu606Ala)
n.2965A>C
c.77A>C (p.Glu26Ala)
n.2596A>C
1g.235806722_235806723delinsTCCA2486650286LYSTc.2413_2414delinsGA (p.Glu805=)
c.1816_1817delinsGA (p.Glu606=)
n.2964_2965delinsGA
c.76_77delinsGA (p.Glu26=)
n.2595_2596delinsGA
1g.235806723delCA344844LYSTc.2413del (p.Glu805AsnfsTer2)
c.1816del (p.Glu606AsnfsTer2)
n.2964del
c.76del (p.Glu26AsnfsTer2)
n.2595del
 ClinVar dbSNP gnomAD v4
1g.235806723C>ACA344957843LYSTc.2413G>T (p.Glu805Ter)
c.1816G>T (p.Glu606Ter)
n.2964G>T
c.76G>T (p.Glu26Ter)
n.2595G>T
 ClinVar
1g.235806723C=CA1141188444LYSTc.2413G= (p.Glu805=)
c.1816G= (p.Glu606=)
n.2964G=
c.76G= (p.Glu26=)
n.2595G=
1g.235806723C>GCA344957846LYSTc.2413G>C (p.Glu805Gln)
c.1816G>C (p.Glu606Gln)
n.2964G>C
c.76G>C (p.Glu26Gln)
n.2595G>C
1g.235806723C>TCA1467284LYSTc.2413G>A (p.Glu805Lys)
c.1816G>A (p.Glu606Lys)
n.2964G>A
c.76G>A (p.Glu26Lys)
n.2595G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.235806724G>ACA39617473LYSTc.2412C>T (p.Ile804=)
c.1815C>T (p.Ile605=)
n.2963C>T
c.75C>T (p.Ile25=)
n.2594C>T
 ClinVar dbSNP gnomAD v4
1g.235806724G>CCA344957849LYSTc.2412C>G (p.Ile804Met)
c.1815C>G (p.Ile605Met)
n.2963C>G
c.75C>G (p.Ile25Met)
n.2594C>G
1g.235806724G=CA2486650287LYSTc.2412C= (p.Ile804=)
c.1815C= (p.Ile605=)
n.2963C=
c.75C= (p.Ile25=)
n.2594C=
1g.235806724G>TCA423775459LYSTc.2412C>A (p.Ile804=)
c.1815C>A (p.Ile605=)
n.2963C>A
c.75C>A (p.Ile25=)
n.2594C>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.235806725A>CCA344957851LYSTc.2411T>G (p.Ile804Ser)
c.1814T>G (p.Ile605Ser)
n.2962T>G
c.74T>G (p.Ile25Ser)
n.2593T>G
1g.235806725A>GCA344957853LYSTc.2411T>C (p.Ile804Thr)
c.1814T>C (p.Ile605Thr)
n.2962T>C
c.74T>C (p.Ile25Thr)
n.2593T>C
1g.235806725A>TCA344957855LYSTc.2411T>A (p.Ile804Asn)
c.1814T>A (p.Ile605Asn)
n.2962T>A
c.74T>A (p.Ile25Asn)
n.2593T>A
1g.235806726T>ACA344957859LYSTc.2410A>T (p.Ile804Phe)
c.1813A>T (p.Ile605Phe)
n.2961A>T
c.73A>T (p.Ile25Phe)
n.2592A>T
1g.235806726T>CCA344957858LYSTc.2410A>G (p.Ile804Val)
c.1813A>G (p.Ile605Val)
n.2961A>G
c.73A>G (p.Ile25Val)
n.2592A>G
1g.235806726T>GCA344957857LYSTc.2410A>C (p.Ile804Leu)
c.1813A>C (p.Ile605Leu)
n.2961A>C
c.73A>C (p.Ile25Leu)
n.2592A>C
1g.235806727T>ACA423775461LYSTc.2409A>T (p.Ile803=)
c.1812A>T (p.Ile604=)
n.2960A>T
c.72A>T (p.Ile24=)
n.2591A>T
1g.235806727T>CCA344957862LYSTc.2409A>G (p.Ile803Met)
c.1812A>G (p.Ile604Met)
n.2960A>G
c.72A>G (p.Ile24Met)
n.2591A>G
1g.235806727T>GCA39617475LYSTc.2409A>C (p.Ile803=)
c.1812A>C (p.Ile604=)
n.2960A>C
c.72A>C (p.Ile24=)
n.2591A>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806727T=CA2486650288LYSTc.2409A= (p.Ile803=)
c.1812A= (p.Ile604=)
n.2960A=
c.72A= (p.Ile24=)
n.2591A=
1g.235806728A>CCA344957864LYSTc.2408T>G (p.Ile803Arg)
c.1811T>G (p.Ile604Arg)
n.2959T>G
c.71T>G (p.Ile24Arg)
n.2590T>G
1g.235806728A>GCA344957866LYSTc.2408T>C (p.Ile803Thr)
c.1811T>C (p.Ile604Thr)
n.2959T>C
c.71T>C (p.Ile24Thr)
n.2590T>C
1g.235806728A>TCA344957868LYSTc.2408T>A (p.Ile803Lys)
c.1811T>A (p.Ile604Lys)
n.2959T>A
c.71T>A (p.Ile24Lys)
n.2590T>A
1g.235806729T>ACA344957870LYSTc.2407A>T (p.Ile803Leu)
c.1810A>T (p.Ile604Leu)
n.2958A>T
c.70A>T (p.Ile24Leu)
n.2589A>T
1g.235806729T>CCA344957872LYSTc.2407A>G (p.Ile803Val)
c.1810A>G (p.Ile604Val)
n.2958A>G
c.70A>G (p.Ile24Val)
n.2589A>G
1g.235806729T>GCA344957873LYSTc.2407A>C (p.Ile803Leu)
c.1810A>C (p.Ile604Leu)
n.2958A>C
c.70A>C (p.Ile24Leu)
n.2589A>C
1g.235806730T>ACA344957875LYSTc.2406A>T (p.Gln802His)
c.1809A>T (p.Gln603His)
n.2957A>T
c.69A>T (p.Gln23His)
n.2588A>T
1g.235806730T>CCA423775463LYSTc.2406A>G (p.Gln802=)
c.1809A>G (p.Gln603=)
n.2957A>G
c.69A>G (p.Gln23=)
n.2588A>G
1g.235806730T>GCA344957876LYSTc.2406A>C (p.Gln802His)
c.1809A>C (p.Gln603His)
n.2957A>C
c.69A>C (p.Gln23His)
n.2588A>C
1g.235806731T>ACA344957878LYSTc.2405A>T (p.Gln802Leu)
c.1808A>T (p.Gln603Leu)
n.2956A>T
c.68A>T (p.Gln23Leu)
n.2587A>T
1g.235806731T>CCA344957880LYSTc.2405A>G (p.Gln802Arg)
c.1808A>G (p.Gln603Arg)
n.2956A>G
c.68A>G (p.Gln23Arg)
n.2587A>G
 dbSNP gnomAD v3 gnomAD v4
1g.235806731T>GCA344957882LYSTc.2405A>C (p.Gln802Pro)
c.1808A>C (p.Gln603Pro)
n.2956A>C
c.68A>C (p.Gln23Pro)
n.2587A>C
1g.235806731T=CA2486650289LYSTc.2405A= (p.Gln802=)
c.1808A= (p.Gln603=)
n.2956A=
c.68A= (p.Gln23=)
n.2587A=
1g.235806732G>ACA344957887LYSTc.2404C>T (p.Gln802Ter)
c.1807C>T (p.Gln603Ter)
n.2955C>T
c.67C>T (p.Gln23Ter)
n.2586C>T
1g.235806732G>CCA344957886LYSTc.2404C>G (p.Gln802Glu)
c.1807C>G (p.Gln603Glu)
n.2955C>G
c.67C>G (p.Gln23Glu)
n.2586C>G
1g.235806732G>TCA344957884LYSTc.2404C>A (p.Gln802Lys)
c.1807C>A (p.Gln603Lys)
n.2955C>A
c.67C>A (p.Gln23Lys)
n.2586C>A
 ClinVar gnomAD v4
1g.235806733A>CCA344957888LYSTc.2403T>G (p.Ser801Arg)
c.1806T>G (p.Ser602Arg)
n.2954T>G
c.66T>G (p.Ser22Arg)
n.2585T>G
 gnomAD v4
1g.235806733A>GCA423775467LYSTc.2403T>C (p.Ser801=)
c.1806T>C (p.Ser602=)
n.2954T>C
c.66T>C (p.Ser22=)
n.2585T>C
 gnomAD v4
1g.235806733A>TCA344957890LYSTc.2403T>A (p.Ser801Arg)
c.1806T>A (p.Ser602Arg)
n.2954T>A
c.66T>A (p.Ser22Arg)
n.2585T>A
1g.235806734C>ACA344957892LYSTc.2402G>T (p.Ser801Ile)
c.1805G>T (p.Ser602Ile)
n.2953G>T
c.65G>T (p.Ser22Ile)
n.2584G>T
1g.235806734C>GCA344957894LYSTc.2402G>C (p.Ser801Thr)
c.1805G>C (p.Ser602Thr)
n.2953G>C
c.65G>C (p.Ser22Thr)
n.2584G>C
1g.235806734C>TCA344957895LYSTc.2402G>A (p.Ser801Asn)
c.1805G>A (p.Ser602Asn)
n.2953G>A
c.65G>A (p.Ser22Asn)
n.2584G>A
1g.235806735T>ACA344957897LYSTc.2401A>T (p.Ser801Cys)
c.1804A>T (p.Ser602Cys)
n.2952A>T
c.64A>T (p.Ser22Cys)
n.2583A>T
1g.235806735T>CCA344957898LYSTc.2401A>G (p.Ser801Gly)
c.1804A>G (p.Ser602Gly)
n.2952A>G
c.64A>G (p.Ser22Gly)
n.2583A>G
 dbSNP
1g.235806735T>GCA344957900LYSTc.2401A>C (p.Ser801Arg)
c.1804A>C (p.Ser602Arg)
n.2952A>C
c.64A>C (p.Ser22Arg)
n.2583A>C
1g.235806735T=CA2486650290LYSTc.2401A= (p.Ser801=)
c.1804A= (p.Ser602=)
n.2952A=
c.64A= (p.Ser22=)
n.2583A=
1g.235806736T>ACA423775469LYSTc.2400A>T (p.Val800=)
c.1803A>T (p.Val601=)
n.2951A>T
c.63A>T (p.Val21=)
n.2582A>T
1g.235806736T>CCA423775472LYSTc.2400A>G (p.Val800=)
c.1803A>G (p.Val601=)
n.2951A>G
c.63A>G (p.Val21=)
n.2582A>G
1g.235806736T>GCA423775471LYSTc.2400A>C (p.Val800=)
c.1803A>C (p.Val601=)
n.2951A>C
c.63A>C (p.Val21=)
n.2582A>C
1g.235806737A=CA2486650291LYSTc.2399T= (p.Val800=)
c.1802T= (p.Val601=)
n.2950T=
c.62T= (p.Val21=)
n.2581T=
1g.235806737A>CCA344957902LYSTc.2399T>G (p.Val800Gly)
c.1802T>G (p.Val601Gly)
n.2950T>G
c.62T>G (p.Val21Gly)
n.2581T>G
 dbSNP gnomAD v4
1g.235806737A>GCA344957904LYSTc.2399T>C (p.Val800Ala)
c.1802T>C (p.Val601Ala)
n.2950T>C
c.62T>C (p.Val21Ala)
n.2581T>C
1g.235806737A>TCA344957906LYSTc.2399T>A (p.Val800Glu)
c.1802T>A (p.Val601Glu)
n.2950T>A
c.62T>A (p.Val21Glu)
n.2581T>A
1g.235806738C>ACA344957908LYSTc.2398G>T (p.Val800Leu)
c.1801G>T (p.Val601Leu)
n.2949G>T
c.61G>T (p.Val21Leu)
n.2580G>T
 gnomAD v4
1g.235806738C>GCA344957910LYSTc.2398G>C (p.Val800Leu)
c.1801G>C (p.Val601Leu)
n.2949G>C
c.61G>C (p.Val21Leu)
n.2580G>C
1g.235806738C>TCA344957911LYSTc.2398G>A (p.Val800Ile)
c.1801G>A (p.Val601Ile)
n.2949G>A
c.61G>A (p.Val21Ile)
n.2580G>A
 gnomAD v4
1g.235806739T>ACA423775474LYSTc.2397A>T (p.Gly799=)
c.1800A>T (p.Gly600=)
n.2948A>T
c.60A>T (p.Gly20=)
n.2579A>T
1g.235806739T>CCA423775476LYSTc.2397A>G (p.Gly799=)
c.1800A>G (p.Gly600=)
n.2948A>G
c.60A>G (p.Gly20=)
n.2579A>G
1g.235806739T>GCA423775477LYSTc.2397A>C (p.Gly799=)
c.1800A>C (p.Gly600=)
n.2948A>C
c.60A>C (p.Gly20=)
n.2579A>C
1g.235806740C>ACA344957915LYSTc.2396G>T (p.Gly799Val)
c.1799G>T (p.Gly600Val)
n.2947G>T
c.59G>T (p.Gly20Val)
n.2578G>T
1g.235806740C=CA2486650292LYSTc.2396G= (p.Gly799=)
c.1799G= (p.Gly600=)
n.2947G=
c.59G= (p.Gly20=)
n.2578G=
1g.235806740C>GCA344957913LYSTc.2396G>C (p.Gly799Ala)
c.1799G>C (p.Gly600Ala)
n.2947G>C
c.59G>C (p.Gly20Ala)
n.2578G>C
 dbSNP
1g.235806740C>TCA344957914LYSTc.2396G>A (p.Gly799Glu)
c.1799G>A (p.Gly600Glu)
n.2947G>A
c.59G>A (p.Gly20Glu)
n.2578G>A
1g.235806740_235806741delinsATCA2580062478LYSTc.2395_2396delinsAT (p.Gly799Ile)
c.1798_1799delinsAT (p.Gly600Ile)
n.2946_2947delinsAT
c.58_59delinsAT (p.Gly20Ile)
n.2577_2578delinsAT
 ClinVar
1g.235806741C>ACA344957916LYSTc.2395G>T (p.Gly799Ter)
c.1798G>T (p.Gly600Ter)
n.2946G>T
c.58G>T (p.Gly20Ter)
n.2577G>T
1g.235806741C>GCA344957917LYSTc.2395G>C (p.Gly799Arg)
c.1798G>C (p.Gly600Arg)
n.2946G>C
c.58G>C (p.Gly20Arg)
n.2577G>C
1g.235806741C>TCA344957919LYSTc.2395G>A (p.Gly799Arg)
c.1798G>A (p.Gly600Arg)
n.2946G>A
c.58G>A (p.Gly20Arg)
n.2577G>A
1g.235806742A>CCA344957921LYSTc.2394T>G (p.Asn798Lys)
c.1797T>G (p.Asn599Lys)
n.2945T>G
c.57T>G (p.Asn19Lys)
n.2576T>G
1g.235806742A>GCA423775481LYSTc.2394T>C (p.Asn798=)
c.1797T>C (p.Asn599=)
n.2945T>C
c.57T>C (p.Asn19=)
n.2576T>C
1g.235806742A>TCA344957923LYSTc.2394T>A (p.Asn798Lys)
c.1797T>A (p.Asn599Lys)
n.2945T>A
c.57T>A (p.Asn19Lys)
n.2576T>A
1g.235806743T>ACA344957926LYSTc.2393A>T (p.Asn798Ile)
c.1796A>T (p.Asn599Ile)
n.2944A>T
c.56A>T (p.Asn19Ile)
n.2575A>T
1g.235806743T>CCA344957929LYSTc.2393A>G (p.Asn798Ser)
c.1796A>G (p.Asn599Ser)
n.2944A>G
c.56A>G (p.Asn19Ser)
n.2575A>G
1g.235806743T>GCA344957931LYSTc.2393A>C (p.Asn798Thr)
c.1796A>C (p.Asn599Thr)
n.2944A>C
c.56A>C (p.Asn19Thr)
n.2575A>C
1g.235806744T>ACA344957935LYSTc.2392A>T (p.Asn798Tyr)
c.1795A>T (p.Asn599Tyr)
n.2943A>T
c.55A>T (p.Asn19Tyr)
n.2574A>T
1g.235806744T>CCA344957939LYSTc.2392A>G (p.Asn798Asp)
c.1795A>G (p.Asn599Asp)
n.2943A>G
c.55A>G (p.Asn19Asp)
n.2574A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806744T>GCA344957940LYSTc.2392A>C (p.Asn798His)
c.1795A>C (p.Asn599His)
n.2943A>C
c.55A>C (p.Asn19His)
n.2574A>C
1g.235806744T=CA2486650293LYSTc.2392A= (p.Asn798=)
c.1795A= (p.Asn599=)
n.2943A=
c.55A= (p.Asn19=)
n.2574A=
1g.235806745A=CA2486650294LYSTc.2391T= (p.Cys797=)
c.1794T= (p.Cys598=)
n.2942T=
c.54T= (p.Cys18=)
n.2573T=
1g.235806745A>CCA344957942LYSTc.2391T>G (p.Cys797Trp)
c.1794T>G (p.Cys598Trp)
n.2942T>G
c.54T>G (p.Cys18Trp)
n.2573T>G
1g.235806745A>GCA423775485LYSTc.2391T>C (p.Cys797=)
c.1794T>C (p.Cys598=)
n.2942T>C
c.54T>C (p.Cys18=)
n.2573T>C
 ClinVar
1g.235806745A>TCA344957941LYSTc.2391T>A (p.Cys797Ter)
c.1794T>A (p.Cys598Ter)
n.2942T>A
c.54T>A (p.Cys18Ter)
n.2573T>A
 dbSNP gnomAD v2
1g.235806746C>ACA344957944LYSTc.2390G>T (p.Cys797Phe)
c.1793G>T (p.Cys598Phe)
n.2941G>T
c.53G>T (p.Cys18Phe)
n.2572G>T
 gnomAD v4
1g.235806746C>GCA344957946LYSTc.2390G>C (p.Cys797Ser)
c.1793G>C (p.Cys598Ser)
n.2941G>C
c.53G>C (p.Cys18Ser)
n.2572G>C
1g.235806746C>TCA344957948LYSTc.2390G>A (p.Cys797Tyr)
c.1793G>A (p.Cys598Tyr)
n.2941G>A
c.53G>A (p.Cys18Tyr)
n.2572G>A
1g.235806747A>CCA344957952LYSTc.2389T>G (p.Cys797Gly)
c.1792T>G (p.Cys598Gly)
n.2940T>G
c.52T>G (p.Cys18Gly)
n.2571T>G
1g.235806747A>GCA344957955LYSTc.2389T>C (p.Cys797Arg)
c.1792T>C (p.Cys598Arg)
n.2940T>C
c.52T>C (p.Cys18Arg)
n.2571T>C
1g.235806747A>TCA344957957LYSTc.2389T>A (p.Cys797Ser)
c.1792T>A (p.Cys598Ser)
n.2940T>A
c.52T>A (p.Cys18Ser)
n.2571T>A
1g.235806748A>CCA344957959LYSTc.2388T>G (p.Ser796Arg)
c.1791T>G (p.Ser597Arg)
n.2939T>G
c.51T>G (p.Ser17Arg)
n.2570T>G
1g.235806748A>GCA423775486LYSTc.2388T>C (p.Ser796=)
c.1791T>C (p.Ser597=)
n.2939T>C
c.51T>C (p.Ser17=)
n.2570T>C
1g.235806748A>TCA344957961LYSTc.2388T>A (p.Ser796Arg)
c.1791T>A (p.Ser597Arg)
n.2939T>A
c.51T>A (p.Ser17Arg)
n.2570T>A
1g.235806749C>ACA344957965LYSTc.2387G>T (p.Ser796Ile)
c.1790G>T (p.Ser597Ile)
n.2938G>T
c.50G>T (p.Ser17Ile)
n.2569G>T
1g.235806749C=CA2486650295LYSTc.2387G= (p.Ser796=)
c.1790G= (p.Ser597=)
n.2938G=
c.50G= (p.Ser17=)
n.2569G=
1g.235806749C>GCA344957968LYSTc.2387G>C (p.Ser796Thr)
c.1790G>C (p.Ser597Thr)
n.2938G>C
c.50G>C (p.Ser17Thr)
n.2569G>C
1g.235806749C>TCA1467285LYSTc.2387G>A (p.Ser796Asn)
c.1790G>A (p.Ser597Asn)
n.2938G>A
c.50G>A (p.Ser17Asn)
n.2569G>A
 dbSNP ExAC gnomAD v2
1g.235806750T>ACA344957975LYSTc.2386A>T (p.Ser796Cys)
c.1789A>T (p.Ser597Cys)
n.2937A>T
c.49A>T (p.Ser17Cys)
n.2568A>T
1g.235806750T>CCA344957978LYSTc.2386A>G (p.Ser796Gly)
c.1789A>G (p.Ser597Gly)
n.2937A>G
c.49A>G (p.Ser17Gly)
n.2568A>G
1g.235806750T>GCA344957982LYSTc.2386A>C (p.Ser796Arg)
c.1789A>C (p.Ser597Arg)
n.2937A>C
c.49A>C (p.Ser17Arg)
n.2568A>C
 dbSNP gnomAD v3 gnomAD v4
1g.235806750T=CA2486650296LYSTc.2386A= (p.Ser796=)
c.1789A= (p.Ser597=)
n.2937A=
c.49A= (p.Ser17=)
n.2568A=
1g.235806751C>ACA344957985LYSTc.2385G>T (p.Leu795Phe)
c.1788G>T (p.Leu596Phe)
n.2936G>T
c.48G>T (p.Leu16Phe)
n.2567G>T
1g.235806751C>GCA344957987LYSTc.2385G>C (p.Leu795Phe)
c.1788G>C (p.Leu596Phe)
n.2936G>C
c.48G>C (p.Leu16Phe)
n.2567G>C
1g.235806751C>TCA423775489LYSTc.2385G>A (p.Leu795=)
c.1788G>A (p.Leu596=)
n.2936G>A
c.48G>A (p.Leu16=)
n.2567G>A
 gnomAD v4
1g.235806752A=CA2486650297LYSTc.2384T= (p.Leu795=)
c.1787T= (p.Leu596=)
n.2935T=
c.47T= (p.Leu16=)
n.2566T=
1g.235806752A>CCA344957992LYSTc.2384T>G (p.Leu795Trp)
c.1787T>G (p.Leu596Trp)
n.2935T>G
c.47T>G (p.Leu16Trp)
n.2566T>G
 gnomAD v4
1g.235806752A>GCA344957993LYSTc.2384T>C (p.Leu795Ser)
c.1787T>C (p.Leu596Ser)
n.2935T>C
c.47T>C (p.Leu16Ser)
n.2566T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806752A>TCA344957997LYSTc.2384T>A (p.Leu795Ter)
c.1787T>A (p.Leu596Ter)
n.2935T>A
c.47T>A (p.Leu16Ter)
n.2566T>A
1g.235806753A>CCA344958002LYSTc.2383T>G (p.Leu795Val)
c.1786T>G (p.Leu596Val)
n.2934T>G
c.46T>G (p.Leu16Val)
n.2565T>G
1g.235806753A>GCA423775490LYSTc.2383T>C (p.Leu795=)
c.1786T>C (p.Leu596=)
n.2934T>C
c.46T>C (p.Leu16=)
n.2565T>C
 ClinVar gnomAD v4
1g.235806753A>TCA344958005LYSTc.2383T>A (p.Leu795Met)
c.1786T>A (p.Leu596Met)
n.2934T>A
c.46T>A (p.Leu16Met)
n.2565T>A
1g.235806754A=CA2486650298LYSTc.2382T= (p.Phe794=)
c.1785T= (p.Phe595=)
n.2933T=
c.45T= (p.Phe15=)
n.2564T=
1g.235806754A>CCA344958009LYSTc.2382T>G (p.Phe794Leu)
c.1785T>G (p.Phe595Leu)
n.2933T>G
c.45T>G (p.Phe15Leu)
n.2564T>G
1g.235806754A>GCA423775491LYSTc.2382T>C (p.Phe794=)
c.1785T>C (p.Phe595=)
n.2933T>C
c.45T>C (p.Phe15=)
n.2564T>C
 ClinVar dbSNP gnomAD v4
1g.235806754A>TCA344958010LYSTc.2382T>A (p.Phe794Leu)
c.1785T>A (p.Phe595Leu)
n.2933T>A
c.45T>A (p.Phe15Leu)
n.2564T>A
1g.235806755A>CCA344958016LYSTc.2381T>G (p.Phe794Cys)
c.1784T>G (p.Phe595Cys)
n.2932T>G
c.44T>G (p.Phe15Cys)
n.2563T>G
1g.235806755A>GCA344958020LYSTc.2381T>C (p.Phe794Ser)
c.1784T>C (p.Phe595Ser)
n.2932T>C
c.44T>C (p.Phe15Ser)
n.2563T>C
1g.235806755A>TCA344958023LYSTc.2381T>A (p.Phe794Tyr)
c.1784T>A (p.Phe595Tyr)
n.2932T>A
c.44T>A (p.Phe15Tyr)
n.2563T>A
1g.235806756A=CA2486650299LYSTc.2380T= (p.Phe794=)
c.1783T= (p.Phe595=)
n.2931T=
c.43T= (p.Phe15=)
n.2562T=
1g.235806756A>CCA344958027LYSTc.2380T>G (p.Phe794Val)
c.1783T>G (p.Phe595Val)
n.2931T>G
c.43T>G (p.Phe15Val)
n.2562T>G
 dbSNP gnomAD v4
1g.235806756A>GCA344958029LYSTc.2380T>C (p.Phe794Leu)
c.1783T>C (p.Phe595Leu)
n.2931T>C
c.43T>C (p.Phe15Leu)
n.2562T>C
 COSMIC
1g.235806756A>TCA344958031LYSTc.2380T>A (p.Phe794Ile)
c.1783T>A (p.Phe595Ile)
n.2931T>A
c.43T>A (p.Phe15Ile)
n.2562T>A
1g.235806757C>ACA344958034LYSTc.2379G>T (p.Leu793Phe)
c.1782G>T (p.Leu594Phe)
n.2930G>T
c.42G>T (p.Leu14Phe)
n.2561G>T
1g.235806757C=CA2486650300LYSTc.2379G= (p.Leu793=)
c.1782G= (p.Leu594=)
n.2930G=
c.42G= (p.Leu14=)
n.2561G=
1g.235806757C>GCA344958037LYSTc.2379G>C (p.Leu793Phe)
c.1782G>C (p.Leu594Phe)
n.2930G>C
c.42G>C (p.Leu14Phe)
n.2561G>C
1g.235806757C>TCA423775493LYSTc.2379G>A (p.Leu793=)
c.1782G>A (p.Leu594=)
n.2930G>A
c.42G>A (p.Leu14=)
n.2561G>A
 dbSNP gnomAD v2 gnomAD v4
1g.235806758A=CA2486650301LYSTc.2378T= (p.Leu793=)
c.1781T= (p.Leu594=)
n.2929T=
c.41T= (p.Leu14=)
n.2560T=
1g.235806758A>CCA39617477LYSTc.2378T>G (p.Leu793Trp)
c.1781T>G (p.Leu594Trp)
n.2929T>G
c.41T>G (p.Leu14Trp)
n.2560T>G
 dbSNP
1g.235806758A>GCA344958045LYSTc.2378T>C (p.Leu793Ser)
c.1781T>C (p.Leu594Ser)
n.2929T>C
c.41T>C (p.Leu14Ser)
n.2560T>C
 ClinVar
1g.235806758A>TCA344958042LYSTc.2378T>A (p.Leu793Ter)
c.1781T>A (p.Leu594Ter)
n.2929T>A
c.41T>A (p.Leu14Ter)
n.2560T>A
1g.235806759A>CCA344958050LYSTc.2377T>G (p.Leu793Val)
c.1780T>G (p.Leu594Val)
n.2928T>G
c.40T>G (p.Leu14Val)
n.2559T>G
1g.235806759A>GCA423775497LYSTc.2377T>C (p.Leu793=)
c.1780T>C (p.Leu594=)
n.2928T>C
c.40T>C (p.Leu14=)
n.2559T>C
1g.235806759A>TCA344958056LYSTc.2377T>A (p.Leu793Met)
c.1780T>A (p.Leu594Met)
n.2928T>A
c.40T>A (p.Leu14Met)
n.2559T>A
 gnomAD v4
1g.235806760A>CCA344958059LYSTc.2376T>G (p.Asp792Glu)
c.1779T>G (p.Asp593Glu)
n.2927T>G
c.39T>G (p.Asp13Glu)
n.2558T>G
1g.235806760A>GCA423775498LYSTc.2376T>C (p.Asp792=)
c.1779T>C (p.Asp593=)
n.2927T>C
c.39T>C (p.Asp13=)
n.2558T>C
1g.235806760A>TCA344958060LYSTc.2376T>A (p.Asp792Glu)
c.1779T>A (p.Asp593Glu)
n.2927T>A
c.39T>A (p.Asp13Glu)
n.2558T>A
1g.235806761T>ACA344958065LYSTc.2375A>T (p.Asp792Val)
c.1778A>T (p.Asp593Val)
n.2926A>T
c.38A>T (p.Asp13Val)
n.2557A>T
1g.235806761T>CCA344958068LYSTc.2375A>G (p.Asp792Gly)
c.1778A>G (p.Asp593Gly)
n.2926A>G
c.38A>G (p.Asp13Gly)
n.2557A>G
1g.235806761T>GCA344958070LYSTc.2375A>C (p.Asp792Ala)
c.1778A>C (p.Asp593Ala)
n.2926A>C
c.38A>C (p.Asp13Ala)
n.2557A>C
1g.235806764_235806765delCA2586968467LYSTc.2374_2375del (p.Asp792PhefsTer6)
c.1777_1778del (p.Asp593PhefsTer6)
n.2925_2926del
c.37_38del (p.Asp13PhefsTer6)
n.2556_2557del
 ClinVar
1g.235806762C>ACA344958075LYSTc.2374G>T (p.Asp792Tyr)
c.1777G>T (p.Asp593Tyr)
n.2925G>T
c.37G>T (p.Asp13Tyr)
n.2556G>T
1g.235806762C>GCA344958077LYSTc.2374G>C (p.Asp792His)
c.1777G>C (p.Asp593His)
n.2925G>C
c.37G>C (p.Asp13His)
n.2556G>C
1g.235806762C>TCA344958080LYSTc.2374G>A (p.Asp792Asn)
c.1777G>A (p.Asp593Asn)
n.2925G>A
c.37G>A (p.Asp13Asn)
n.2556G>A
1g.235806763T>ACA344958082LYSTc.2373A>T (p.Arg791Ser)
c.1776A>T (p.Arg592Ser)
n.2924A>T
c.36A>T (p.Arg12Ser)
n.2555A>T
1g.235806763T>CCA423775503LYSTc.2373A>G (p.Arg791=)
c.1776A>G (p.Arg592=)
n.2924A>G
c.36A>G (p.Arg12=)
n.2555A>G
1g.235806763T>GCA344958085LYSTc.2373A>C (p.Arg791Ser)
c.1776A>C (p.Arg592Ser)
n.2924A>C
c.36A>C (p.Arg12Ser)
n.2555A>C
1g.235806764_235806766delCA2748228013LYSTc.2371_2373del (p.Arg791del)
c.1774_1776del (p.Arg592del)
n.2922_2924del
c.34_36del (p.Arg12del)
n.2553_2555del
1g.235806764C>ACA344958088LYSTc.2372G>T (p.Arg791Ile)
c.1775G>T (p.Arg592Ile)
n.2923G>T
c.35G>T (p.Arg12Ile)
n.2554G>T
1g.235806764C>GCA344958087LYSTc.2372G>C (p.Arg791Thr)
c.1775G>C (p.Arg592Thr)
n.2923G>C
c.35G>C (p.Arg12Thr)
n.2554G>C
1g.235806764C>TCA344958086LYSTc.2372G>A (p.Arg791Lys)
c.1775G>A (p.Arg592Lys)
n.2923G>A
c.35G>A (p.Arg12Lys)
n.2554G>A

Number of alleles fetched