Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.235806503_235806504delinsAGCA2486650204LYSTc.2632_2633delinsCT (p.Leu878=)
c.2035_2036delinsCT (p.Leu679=)
n.3183_3184delinsCT
c.295_296delinsCT (p.Leu99=)
n.2814_2815delinsCT
1g.235806504G>ACA344956209LYSTc.2632C>T (p.Leu878Phe)
c.2035C>T (p.Leu679Phe)
n.3183C>T
c.295C>T (p.Leu99Phe)
n.2814C>T
1g.235806504G>CCA344956210LYSTc.2632C>G (p.Leu878Val)
c.2035C>G (p.Leu679Val)
n.3183C>G
c.295C>G (p.Leu99Val)
n.2814C>G
gnomAD v4
1g.235806504G>TCA344956212LYSTc.2632C>A (p.Leu878Ile)
c.2035C>A (p.Leu679Ile)
n.3183C>A
c.295C>A (p.Leu99Ile)
n.2814C>A
1g.235806505delCA2486650205LYSTc.2632del (p.Leu878SerfsTer21)
c.2035del (p.Leu679SerfsTer21)
n.3183del
c.295del (p.Leu99SerfsTer21)
n.2814del
dbSNP
1g.235806505G>ACA424027280LYSTc.2631C>T (p.Gly877=)
c.2034C>T (p.Gly678=)
n.3182C>T
c.294C>T (p.Gly98=)
n.2813C>T
1g.235806505G>CCA424027281LYSTc.2631C>G (p.Gly877=)
c.2034C>G (p.Gly678=)
n.3182C>G
c.294C>G (p.Gly98=)
n.2813C>G
1g.235806505G>TCA424027282LYSTc.2631C>A (p.Gly877=)
c.2034C>A (p.Gly678=)
n.3182C>A
c.294C>A (p.Gly98=)
n.2813C>A
1g.235806506C>ACA344956215LYSTc.2630G>T (p.Gly877Val)
c.2033G>T (p.Gly678Val)
n.3181G>T
c.293G>T (p.Gly98Val)
n.2812G>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.235806506C=CA2486650206LYSTc.2630G= (p.Gly877=)
c.2033G= (p.Gly678=)
n.3181G=
c.293G= (p.Gly98=)
n.2812G=
1g.235806506C>GCA10609402LYSTc.2630G>C (p.Gly877Ala)
c.2033G>C (p.Gly678Ala)
n.3181G>C
c.293G>C (p.Gly98Ala)
n.2812G>C
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.235806506C>TCA344956218LYSTc.2630G>A (p.Gly877Asp)
c.2033G>A (p.Gly678Asp)
n.3181G>A
c.293G>A (p.Gly98Asp)
n.2812G>A
dbSNP gnomAD v3 gnomAD v4
1g.235806507C>ACA344956222LYSTc.2629G>T (p.Gly877Cys)
c.2032G>T (p.Gly678Cys)
n.3180G>T
c.292G>T (p.Gly98Cys)
n.2811G>T
1g.235806507C>GCA344956224LYSTc.2629G>C (p.Gly877Arg)
c.2032G>C (p.Gly678Arg)
n.3180G>C
c.292G>C (p.Gly98Arg)
n.2811G>C
1g.235806507C>TCA344956225LYSTc.2629G>A (p.Gly877Ser)
c.2032G>A (p.Gly678Ser)
n.3180G>A
c.292G>A (p.Gly98Ser)
n.2811G>A
1g.235806508A>CCA424027285LYSTc.2628T>G (p.Ala876=)
c.2031T>G (p.Ala677=)
n.3179T>G
c.291T>G (p.Ala97=)
n.2810T>G
1g.235806508A>GCA424027283LYSTc.2628T>C (p.Ala876=)
c.2031T>C (p.Ala677=)
n.3179T>C
c.291T>C (p.Ala97=)
n.2810T>C
1g.235806508A>TCA424027284LYSTc.2628T>A (p.Ala876=)
c.2031T>A (p.Ala677=)
n.3179T>A
c.291T>A (p.Ala97=)
n.2810T>A
1g.235806509G>ACA344956230LYSTc.2627C>T (p.Ala876Val)
c.2030C>T (p.Ala677Val)
n.3178C>T
c.290C>T (p.Ala97Val)
n.2809C>T
ClinVar
1g.235806509G>CCA1467243LYSTc.2627C>G (p.Ala876Gly)
c.2030C>G (p.Ala677Gly)
n.3178C>G
c.290C>G (p.Ala97Gly)
n.2809C>G
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806509G=CA2486650207LYSTc.2627C= (p.Ala876=)
c.2030C= (p.Ala677=)
n.3178C=
c.290C= (p.Ala97=)
n.2809C=
1g.235806509G>TCA344956232LYSTc.2627C>A (p.Ala876Asp)
c.2030C>A (p.Ala677Asp)
n.3178C>A
c.290C>A (p.Ala97Asp)
n.2809C>A
1g.235806510C>ACA344956240LYSTc.2626G>T (p.Ala876Ser)
c.2029G>T (p.Ala677Ser)
n.3177G>T
c.289G>T (p.Ala97Ser)
n.2808G>T
1g.235806510C>GCA344956243LYSTc.2626G>C (p.Ala876Pro)
c.2029G>C (p.Ala677Pro)
n.3177G>C
c.289G>C (p.Ala97Pro)
n.2808G>C
1g.235806510C>TCA344956245LYSTc.2626G>A (p.Ala876Thr)
c.2029G>A (p.Ala677Thr)
n.3177G>A
c.289G>A (p.Ala97Thr)
n.2808G>A
1g.235806511A>CCA344956248LYSTc.2625T>G (p.Tyr875Ter)
c.2028T>G (p.Tyr676Ter)
n.3176T>G
c.288T>G (p.Tyr96Ter)
n.2807T>G
1g.235806511A>GCA424027286LYSTc.2625T>C (p.Tyr875=)
c.2028T>C (p.Tyr676=)
n.3176T>C
c.288T>C (p.Tyr96=)
n.2807T>C
1g.235806511A>TCA344956257LYSTc.2625T>A (p.Tyr875Ter)
c.2028T>A (p.Tyr676Ter)
n.3176T>A
c.288T>A (p.Tyr96Ter)
n.2807T>A
1g.235806512T>ACA344956265LYSTc.2624A>T (p.Tyr875Phe)
c.2027A>T (p.Tyr676Phe)
n.3175A>T
c.287A>T (p.Tyr96Phe)
n.2806A>T
ClinVar
1g.235806512T>CCA1467244LYSTc.2624A>G (p.Tyr875Cys)
c.2027A>G (p.Tyr676Cys)
n.3175A>G
c.287A>G (p.Tyr96Cys)
n.2806A>G
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806512T>GCA344956260LYSTc.2624A>C (p.Tyr875Ser)
c.2027A>C (p.Tyr676Ser)
n.3175A>C
c.287A>C (p.Tyr96Ser)
n.2806A>C
1g.235806512T=CA2486650209LYSTc.2624A= (p.Tyr875=)
c.2027A= (p.Tyr676=)
n.3175A=
c.287A= (p.Tyr96=)
n.2806A=
1g.235806512_235806513delinsTACA2486650208LYSTc.2623_2624delinsTA (p.Tyr875=)
c.2026_2027delinsTA (p.Tyr676=)
n.3174_3175delinsTA
c.286_287delinsTA (p.Tyr96=)
n.2805_2806delinsTA
1g.235806513A=CA2486650210LYSTc.2623T= (p.Tyr875=)
c.2026T= (p.Tyr676=)
n.3174T=
c.286T= (p.Tyr96=)
n.2805T=
1g.235806513A>CCA344956272LYSTc.2623T>G (p.Tyr875Asp)
c.2026T>G (p.Tyr676Asp)
n.3174T>G
c.286T>G (p.Tyr96Asp)
n.2805T>G
1g.235806513A>GCA1467245LYSTc.2623T>C (p.Tyr875His)
c.2026T>C (p.Tyr676His)
n.3174T>C
c.286T>C (p.Tyr96His)
n.2805T>C
dbSNP ExAC gnomAD v2
1g.235806513A>TCA344956278LYSTc.2623T>A (p.Tyr875Asn)
c.2026T>A (p.Tyr676Asn)
n.3174T>A
c.286T>A (p.Tyr96Asn)
n.2805T>A
1g.235806513_235806516delinsAAAACA1141188442LYSTc.2620_2623delinsTTTT (p.Phe874=)
c.2023_2026delinsTTTT (p.Phe675=)
n.3171_3174delinsTTTT
c.283_286delinsTTTT (p.Phe95=)
n.2802_2805delinsTTTT
1g.235806516delCA116460LYSTc.2623del (p.Tyr875MetfsTer24)
c.2026del (p.Tyr676MetfsTer24)
n.3174del
c.286del (p.Tyr96MetfsTer24)
n.2805del
ClinVar dbSNP
1g.235806514A>CCA344956280LYSTc.2622T>G (p.Phe874Leu)
c.2025T>G (p.Phe675Leu)
n.3173T>G
c.285T>G (p.Phe95Leu)
n.2804T>G
1g.235806514A>GCA424027290LYSTc.2622T>C (p.Phe874=)
c.2025T>C (p.Phe675=)
n.3173T>C
c.285T>C (p.Phe95=)
n.2804T>C
1g.235806514A>TCA344956281LYSTc.2622T>A (p.Phe874Leu)
c.2025T>A (p.Phe675Leu)
n.3173T>A
c.285T>A (p.Phe95Leu)
n.2804T>A
1g.235806515A>CCA344956283LYSTc.2621T>G (p.Phe874Cys)
c.2024T>G (p.Phe675Cys)
n.3172T>G
c.284T>G (p.Phe95Cys)
n.2803T>G
1g.235806515A>GCA344956290LYSTc.2621T>C (p.Phe874Ser)
c.2024T>C (p.Phe675Ser)
n.3172T>C
c.284T>C (p.Phe95Ser)
n.2803T>C
1g.235806515A>TCA344956285LYSTc.2621T>A (p.Phe874Tyr)
c.2024T>A (p.Phe675Tyr)
n.3172T>A
c.284T>A (p.Phe95Tyr)
n.2803T>A
1g.235806516A>CCA344956293LYSTc.2620T>G (p.Phe874Val)
c.2023T>G (p.Phe675Val)
n.3171T>G
c.283T>G (p.Phe95Val)
n.2802T>G
1g.235806516A>GCA344956297LYSTc.2620T>C (p.Phe874Leu)
c.2023T>C (p.Phe675Leu)
n.3171T>C
c.283T>C (p.Phe95Leu)
n.2802T>C
1g.235806516A>TCA344956301LYSTc.2620T>A (p.Phe874Ile)
c.2023T>A (p.Phe675Ile)
n.3171T>A
c.283T>A (p.Phe95Ile)
n.2802T>A
1g.235806517T>ACA344956306LYSTc.2619A>T (p.Lys873Asn)
c.2022A>T (p.Lys674Asn)
n.3170A>T
c.282A>T (p.Lys94Asn)
n.2801A>T
1g.235806517T>CCA424027292LYSTc.2619A>G (p.Lys873=)
c.2022A>G (p.Lys674=)
n.3170A>G
c.282A>G (p.Lys94=)
n.2801A>G
1g.235806517T>GCA344956309LYSTc.2619A>C (p.Lys873Asn)
c.2022A>C (p.Lys674Asn)
n.3170A>C
c.282A>C (p.Lys94Asn)
n.2801A>C
1g.235806518T>ACA344956312LYSTc.2618A>T (p.Lys873Ile)
c.2021A>T (p.Lys674Ile)
n.3169A>T
c.281A>T (p.Lys94Ile)
n.2800A>T
1g.235806518T>CCA344956314LYSTc.2618A>G (p.Lys873Arg)
c.2021A>G (p.Lys674Arg)
n.3169A>G
c.281A>G (p.Lys94Arg)
n.2800A>G
dbSNP gnomAD v2 gnomAD v4
1g.235806518T>GCA344956316LYSTc.2618A>C (p.Lys873Thr)
c.2021A>C (p.Lys674Thr)
n.3169A>C
c.281A>C (p.Lys94Thr)
n.2800A>C
1g.235806518T=CA2486650211LYSTc.2618A= (p.Lys873=)
c.2021A= (p.Lys674=)
n.3169A=
c.281A= (p.Lys94=)
n.2800A=
1g.235806519T>ACA344956327LYSTc.2617A>T (p.Lys873Ter)
c.2020A>T (p.Lys674Ter)
n.3168A>T
c.280A>T (p.Lys94Ter)
n.2799A>T
1g.235806519T>CCA344956330LYSTc.2617A>G (p.Lys873Glu)
c.2020A>G (p.Lys674Glu)
n.3168A>G
c.280A>G (p.Lys94Glu)
n.2799A>G
1g.235806519T>GCA344956341LYSTc.2617A>C (p.Lys873Gln)
c.2020A>C (p.Lys674Gln)
n.3168A>C
c.280A>C (p.Lys94Gln)
n.2799A>C
1g.235806520G>ACA424027297LYSTc.2616C>T (p.Ser872=)
c.2019C>T (p.Ser673=)
n.3167C>T
c.279C>T (p.Ser93=)
n.2798C>T
1g.235806520G>CCA344956348LYSTc.2616C>G (p.Ser872Arg)
c.2019C>G (p.Ser673Arg)
n.3167C>G
c.279C>G (p.Ser93Arg)
n.2798C>G
1g.235806520G=CA2486650212LYSTc.2616C= (p.Ser872=)
c.2019C= (p.Ser673=)
n.3167C=
c.279C= (p.Ser93=)
n.2798C=
1g.235806520G>TCA344956344LYSTc.2616C>A (p.Ser872Arg)
c.2019C>A (p.Ser673Arg)
n.3167C>A
c.279C>A (p.Ser93Arg)
n.2798C>A
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.235806521C>ACA344956353LYSTc.2615G>T (p.Ser872Ile)
c.2018G>T (p.Ser673Ile)
n.3166G>T
c.278G>T (p.Ser93Ile)
n.2797G>T
1g.235806521C=CA2486650213LYSTc.2615G= (p.Ser872=)
c.2018G= (p.Ser673=)
n.3166G=
c.278G= (p.Ser93=)
n.2797G=
1g.235806521C>GCA344956358LYSTc.2615G>C (p.Ser872Thr)
c.2018G>C (p.Ser673Thr)
n.3166G>C
c.278G>C (p.Ser93Thr)
n.2797G>C
1g.235806521C>TCA1467246LYSTc.2615G>A (p.Ser872Asn)
c.2018G>A (p.Ser673Asn)
n.3166G>A
c.278G>A (p.Ser93Asn)
n.2797G>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806522T>ACA344956364LYSTc.2614A>T (p.Ser872Cys)
c.2017A>T (p.Ser673Cys)
n.3165A>T
c.277A>T (p.Ser93Cys)
n.2796A>T
1g.235806522T>CCA344956368LYSTc.2614A>G (p.Ser872Gly)
c.2017A>G (p.Ser673Gly)
n.3165A>G
c.277A>G (p.Ser93Gly)
n.2796A>G
gnomAD v4
1g.235806522T>GCA344956370LYSTc.2614A>C (p.Ser872Arg)
c.2017A>C (p.Ser673Arg)
n.3165A>C
c.277A>C (p.Ser93Arg)
n.2796A>C
1g.235806523G>ACA424027302LYSTc.2613C>T (p.Leu871=)
c.2016C>T (p.Leu672=)
n.3164C>T
c.276C>T (p.Leu92=)
n.2795C>T
COSMIC
1g.235806523G>CCA424027303LYSTc.2613C>G (p.Leu871=)
c.2016C>G (p.Leu672=)
n.3164C>G
c.276C>G (p.Leu92=)
n.2795C>G
1g.235806523G>TCA424027304LYSTc.2613C>A (p.Leu871=)
c.2016C>A (p.Leu672=)
n.3164C>A
c.276C>A (p.Leu92=)
n.2795C>A
1g.235806524A>CCA344956376LYSTc.2612T>G (p.Leu871Arg)
c.2015T>G (p.Leu672Arg)
n.3163T>G
c.275T>G (p.Leu92Arg)
n.2794T>G
1g.235806524A>GCA344956380LYSTc.2612T>C (p.Leu871Pro)
c.2015T>C (p.Leu672Pro)
n.3163T>C
c.275T>C (p.Leu92Pro)
n.2794T>C
1g.235806524A>TCA344956382LYSTc.2612T>A (p.Leu871His)
c.2015T>A (p.Leu672His)
n.3163T>A
c.275T>A (p.Leu92His)
n.2794T>A
1g.235806525G>ACA344956386LYSTc.2611C>T (p.Leu871Phe)
c.2014C>T (p.Leu672Phe)
n.3162C>T
c.274C>T (p.Leu92Phe)
n.2793C>T
1g.235806525G>CCA344956388LYSTc.2611C>G (p.Leu871Val)
c.2014C>G (p.Leu672Val)
n.3162C>G
c.274C>G (p.Leu92Val)
n.2793C>G
1g.235806525G>TCA344956392LYSTc.2611C>A (p.Leu871Ile)
c.2014C>A (p.Leu672Ile)
n.3162C>A
c.274C>A (p.Leu92Ile)
n.2793C>A
1g.235806526A=CA2486650214LYSTc.2610T= (p.Ser870=)
c.2013T= (p.Ser671=)
n.3161T=
c.273T= (p.Ser91=)
n.2792T=
1g.235806526A>CCA344956397LYSTc.2610T>G (p.Ser870Arg)
c.2013T>G (p.Ser671Arg)
n.3161T>G
c.273T>G (p.Ser91Arg)
n.2792T>G
1g.235806526A>GCA39616352LYSTc.2610T>C (p.Ser870=)
c.2013T>C (p.Ser671=)
n.3161T>C
c.273T>C (p.Ser91=)
n.2792T>C
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806526A>TCA344956400LYSTc.2610T>A (p.Ser870Arg)
c.2013T>A (p.Ser671Arg)
n.3161T>A
c.273T>A (p.Ser91Arg)
n.2792T>A
1g.235806527C>ACA344956413LYSTc.2609G>T (p.Ser870Ile)
c.2012G>T (p.Ser671Ile)
n.3160G>T
c.272G>T (p.Ser91Ile)
n.2791G>T
1g.235806527C=CA2486650215LYSTc.2609G= (p.Ser870=)
c.2012G= (p.Ser671=)
n.3160G=
c.272G= (p.Ser91=)
n.2791G=
1g.235806527C>GCA344956409LYSTc.2609G>C (p.Ser870Thr)
c.2012G>C (p.Ser671Thr)
n.3160G>C
c.272G>C (p.Ser91Thr)
n.2791G>C
1g.235806527C>TCA1467247LYSTc.2609G>A (p.Ser870Asn)
c.2012G>A (p.Ser671Asn)
n.3160G>A
c.272G>A (p.Ser91Asn)
n.2791G>A
dbSNP ExAC gnomAD v2
1g.235806528T>ACA344956419LYSTc.2608A>T (p.Ser870Cys)
c.2011A>T (p.Ser671Cys)
n.3159A>T
c.271A>T (p.Ser91Cys)
n.2790A>T
1g.235806528T>CCA344956421LYSTc.2608A>G (p.Ser870Gly)
c.2011A>G (p.Ser671Gly)
n.3159A>G
c.271A>G (p.Ser91Gly)
n.2790A>G
1g.235806528T>GCA344956424LYSTc.2608A>C (p.Ser870Arg)
c.2011A>C (p.Ser671Arg)
n.3159A>C
c.271A>C (p.Ser91Arg)
n.2790A>C
1g.235806529C>ACA344956427LYSTc.2607G>T (p.Gln869His)
c.2010G>T (p.Gln670His)
n.3158G>T
c.270G>T (p.Gln90His)
n.2789G>T
1g.235806529C=CA2486650216LYSTc.2607G= (p.Gln869=)
c.2010G= (p.Gln670=)
n.3158G=
c.270G= (p.Gln90=)
n.2789G=
1g.235806529C>GCA344956432LYSTc.2607G>C (p.Gln869His)
c.2010G>C (p.Gln670His)
n.3158G>C
c.270G>C (p.Gln90His)
n.2789G>C
dbSNP gnomAD v2
1g.235806529C>TCA424027312LYSTc.2607G>A (p.Gln869=)
c.2010G>A (p.Gln670=)
n.3158G>A
c.270G>A (p.Gln90=)
n.2789G>A
1g.235806530T>ACA344956435LYSTc.2606A>T (p.Gln869Leu)
c.2009A>T (p.Gln670Leu)
n.3157A>T
c.269A>T (p.Gln90Leu)
n.2788A>T
1g.235806530T>CCA344956437LYSTc.2606A>G (p.Gln869Arg)
c.2009A>G (p.Gln670Arg)
n.3157A>G
c.269A>G (p.Gln90Arg)
n.2788A>G
dbSNP gnomAD v2 gnomAD v4
1g.235806530T>GCA344956440LYSTc.2606A>C (p.Gln869Pro)
c.2009A>C (p.Gln670Pro)
n.3157A>C
c.269A>C (p.Gln90Pro)
n.2788A>C
1g.235806530T=CA2486650217LYSTc.2606A= (p.Gln869=)
c.2009A= (p.Gln670=)
n.3157A=
c.269A= (p.Gln90=)
n.2788A=
1g.235806531G>ACA344956443LYSTc.2605C>T (p.Gln869Ter)
c.2008C>T (p.Gln670Ter)
n.3156C>T
c.268C>T (p.Gln90Ter)
n.2787C>T
1g.235806531G>CCA344956445LYSTc.2605C>G (p.Gln869Glu)
c.2008C>G (p.Gln670Glu)
n.3156C>G
c.268C>G (p.Gln90Glu)
n.2787C>G
1g.235806531G>TCA344956447LYSTc.2605C>A (p.Gln869Lys)
c.2008C>A (p.Gln670Lys)
n.3156C>A
c.268C>A (p.Gln90Lys)
n.2787C>A
1g.235806532A>CCA424027317LYSTc.2604T>G (p.Pro868=)
c.2007T>G (p.Pro669=)
n.3155T>G
c.267T>G (p.Pro89=)
n.2786T>G
1g.235806532A>GCA424027318LYSTc.2604T>C (p.Pro868=)
c.2007T>C (p.Pro669=)
n.3155T>C
c.267T>C (p.Pro89=)
n.2786T>C
1g.235806532A>TCA424027319LYSTc.2604T>A (p.Pro868=)
c.2007T>A (p.Pro669=)
n.3155T>A
c.267T>A (p.Pro89=)
n.2786T>A
1g.235806533G>ACA344956449LYSTc.2603C>T (p.Pro868Leu)
c.2006C>T (p.Pro669Leu)
n.3154C>T
c.266C>T (p.Pro89Leu)
n.2785C>T
1g.235806533G>CCA344956451LYSTc.2603C>G (p.Pro868Arg)
c.2006C>G (p.Pro669Arg)
n.3154C>G
c.266C>G (p.Pro89Arg)
n.2785C>G
1g.235806533G>TCA344956453LYSTc.2603C>A (p.Pro868His)
c.2006C>A (p.Pro669His)
n.3154C>A
c.266C>A (p.Pro89His)
n.2785C>A
1g.235806534G>ACA344956458LYSTc.2602C>T (p.Pro868Ser)
c.2005C>T (p.Pro669Ser)
n.3153C>T
c.265C>T (p.Pro89Ser)
n.2784C>T
gnomAD v4
1g.235806534G>CCA344956460LYSTc.2602C>G (p.Pro868Ala)
c.2005C>G (p.Pro669Ala)
n.3153C>G
c.265C>G (p.Pro89Ala)
n.2784C>G
1g.235806534G>TCA344956457LYSTc.2602C>A (p.Pro868Thr)
c.2005C>A (p.Pro669Thr)
n.3153C>A
c.265C>A (p.Pro89Thr)
n.2784C>A
1g.235806535A>CCA424027324LYSTc.2601T>G (p.Ser867=)
c.2004T>G (p.Ser668=)
n.3152T>G
c.264T>G (p.Ser88=)
n.2783T>G
1g.235806535A>GCA424027326LYSTc.2601T>C (p.Ser867=)
c.2004T>C (p.Ser668=)
n.3152T>C
c.264T>C (p.Ser88=)
n.2783T>C
1g.235806535A>TCA424027325LYSTc.2601T>A (p.Ser867=)
c.2004T>A (p.Ser668=)
n.3152T>A
c.264T>A (p.Ser88=)
n.2783T>A
1g.235806536G>ACA344956464LYSTc.2600C>T (p.Ser867Phe)
c.2003C>T (p.Ser668Phe)
n.3151C>T
c.263C>T (p.Ser88Phe)
n.2782C>T
1g.235806536G>CCA344956467LYSTc.2600C>G (p.Ser867Cys)
c.2003C>G (p.Ser668Cys)
n.3151C>G
c.263C>G (p.Ser88Cys)
n.2782C>G
ClinVar
1g.235806536G>TCA344956469LYSTc.2600C>A (p.Ser867Tyr)
c.2003C>A (p.Ser668Tyr)
n.3151C>A
c.263C>A (p.Ser88Tyr)
n.2782C>A
1g.235806537A=CA1149135833LYSTc.2599T= (p.Ser867=)
c.2002T= (p.Ser668=)
n.3150T=
c.262T= (p.Ser88=)
n.2781T=
1g.235806537A>CCA344956473LYSTc.2599T>G (p.Ser867Ala)
c.2002T>G (p.Ser668Ala)
n.3150T>G
c.262T>G (p.Ser88Ala)
n.2781T>G
1g.235806537A>GCA344956475LYSTc.2599T>C (p.Ser867Pro)
c.2002T>C (p.Ser668Pro)
n.3150T>C
c.262T>C (p.Ser88Pro)
n.2781T>C
1g.235806537A>TCA1467248LYSTc.2599T>A (p.Ser867Thr)
c.2002T>A (p.Ser668Thr)
n.3150T>A
c.262T>A (p.Ser88Thr)
n.2781T>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806538A>CCA344956483LYSTc.2598T>G (p.Asp866Glu)
c.2001T>G (p.Asp667Glu)
n.3149T>G
c.261T>G (p.Asp87Glu)
n.2780T>G
1g.235806538A>GCA424027330LYSTc.2598T>C (p.Asp866=)
c.2001T>C (p.Asp667=)
n.3149T>C
c.261T>C (p.Asp87=)
n.2780T>C
1g.235806538A>TCA344956481LYSTc.2598T>A (p.Asp866Glu)
c.2001T>A (p.Asp667Glu)
n.3149T>A
c.261T>A (p.Asp87Glu)
n.2780T>A
1g.235806539T>ACA344956487LYSTc.2597A>T (p.Asp866Val)
c.2000A>T (p.Asp667Val)
n.3148A>T
c.260A>T (p.Asp87Val)
n.2779A>T
1g.235806539T>CCA344956489LYSTc.2597A>G (p.Asp866Gly)
c.2000A>G (p.Asp667Gly)
n.3148A>G
c.260A>G (p.Asp87Gly)
n.2779A>G
1g.235806539T>GCA344956491LYSTc.2597A>C (p.Asp866Ala)
c.2000A>C (p.Asp667Ala)
n.3148A>C
c.260A>C (p.Asp87Ala)
n.2779A>C
1g.235806540C>ACA344956494LYSTc.2596G>T (p.Asp866Tyr)
c.1999G>T (p.Asp667Tyr)
n.3147G>T
c.259G>T (p.Asp87Tyr)
n.2778G>T
1g.235806540C>GCA344956499LYSTc.2596G>C (p.Asp866His)
c.1999G>C (p.Asp667His)
n.3147G>C
c.259G>C (p.Asp87His)
n.2778G>C
1g.235806540C>TCA344956501LYSTc.2596G>A (p.Asp866Asn)
c.1999G>A (p.Asp667Asn)
n.3147G>A
c.259G>A (p.Asp87Asn)
n.2778G>A
1g.235806541T>ACA424027336LYSTc.2595A>T (p.Ser865=)
c.1998A>T (p.Ser666=)
n.3146A>T
c.258A>T (p.Ser86=)
n.2777A>T
1g.235806541T>CCA424027337LYSTc.2595A>G (p.Ser865=)
c.1998A>G (p.Ser666=)
n.3146A>G
c.258A>G (p.Ser86=)
n.2777A>G
1g.235806541T>GCA424027338LYSTc.2595A>C (p.Ser865=)
c.1998A>C (p.Ser666=)
n.3146A>C
c.258A>C (p.Ser86=)
n.2777A>C
1g.235806542G>ACA344956505LYSTc.2594C>T (p.Ser865Leu)
c.1997C>T (p.Ser666Leu)
n.3145C>T
c.257C>T (p.Ser86Leu)
n.2776C>T
gnomAD v4
1g.235806542G>CCA344956509LYSTc.2594C>G (p.Ser865Ter)
c.1997C>G (p.Ser666Ter)
n.3145C>G
c.257C>G (p.Ser86Ter)
n.2776C>G
1g.235806542G>TCA344956507LYSTc.2594C>A (p.Ser865Ter)
c.1997C>A (p.Ser666Ter)
n.3145C>A
c.257C>A (p.Ser86Ter)
n.2776C>A
1g.235806543A>CCA344956512LYSTc.2593T>G (p.Ser865Ala)
c.1996T>G (p.Ser666Ala)
n.3144T>G
c.256T>G (p.Ser86Ala)
n.2775T>G
1g.235806543A>GCA344956515LYSTc.2593T>C (p.Ser865Pro)
c.1996T>C (p.Ser666Pro)
n.3144T>C
c.256T>C (p.Ser86Pro)
n.2775T>C
1g.235806543A>TCA344956517LYSTc.2593T>A (p.Ser865Thr)
c.1996T>A (p.Ser666Thr)
n.3144T>A
c.256T>A (p.Ser86Thr)
n.2775T>A
1g.235806544A>CCA344956520LYSTc.2592T>G (p.Tyr864Ter)
c.1995T>G (p.Tyr665Ter)
n.3143T>G
c.255T>G (p.Tyr85Ter)
n.2774T>G
1g.235806544A>GCA424027343LYSTc.2592T>C (p.Tyr864=)
c.1995T>C (p.Tyr665=)
n.3143T>C
c.255T>C (p.Tyr85=)
n.2774T>C
1g.235806544A>TCA344956522LYSTc.2592T>A (p.Tyr864Ter)
c.1995T>A (p.Tyr665Ter)
n.3143T>A
c.255T>A (p.Tyr85Ter)
n.2774T>A
1g.235806545T>ACA344956526LYSTc.2591A>T (p.Tyr864Phe)
c.1994A>T (p.Tyr665Phe)
n.3142A>T
c.254A>T (p.Tyr85Phe)
n.2773A>T
1g.235806545T>CCA344956528LYSTc.2591A>G (p.Tyr864Cys)
c.1994A>G (p.Tyr665Cys)
n.3142A>G
c.254A>G (p.Tyr85Cys)
n.2773A>G
dbSNP gnomAD v3 gnomAD v4
1g.235806545T>GCA344956531LYSTc.2591A>C (p.Tyr864Ser)
c.1994A>C (p.Tyr665Ser)
n.3142A>C
c.254A>C (p.Tyr85Ser)
n.2773A>C
1g.235806545T=CA2486650218LYSTc.2591A= (p.Tyr864=)
c.1994A= (p.Tyr665=)
n.3142A=
c.254A= (p.Tyr85=)
n.2773A=
1g.235806546A>CCA344956535LYSTc.2590T>G (p.Tyr864Asp)
c.1993T>G (p.Tyr665Asp)
n.3141T>G
c.253T>G (p.Tyr85Asp)
n.2772T>G
1g.235806546A>GCA344956537LYSTc.2590T>C (p.Tyr864His)
c.1993T>C (p.Tyr665His)
n.3141T>C
c.253T>C (p.Tyr85His)
n.2772T>C
1g.235806546A>TCA344956539LYSTc.2590T>A (p.Tyr864Asn)
c.1993T>A (p.Tyr665Asn)
n.3141T>A
c.253T>A (p.Tyr85Asn)
n.2772T>A
1g.235806547A>CCA424027347LYSTc.2589T>G (p.Ala863=)
c.1992T>G (p.Ala664=)
n.3140T>G
c.252T>G (p.Ala84=)
n.2771T>G
1g.235806547A>GCA424027348LYSTc.2589T>C (p.Ala863=)
c.1992T>C (p.Ala664=)
n.3140T>C
c.252T>C (p.Ala84=)
n.2771T>C
1g.235806547A>TCA424027349LYSTc.2589T>A (p.Ala863=)
c.1992T>A (p.Ala664=)
n.3140T>A
c.252T>A (p.Ala84=)
n.2771T>A
1g.235806548G>ACA344956542LYSTc.2588C>T (p.Ala863Val)
c.1991C>T (p.Ala664Val)
n.3139C>T
c.251C>T (p.Ala84Val)
n.2770C>T
gnomAD v4
1g.235806548G>CCA344956546LYSTc.2588C>G (p.Ala863Gly)
c.1991C>G (p.Ala664Gly)
n.3139C>G
c.251C>G (p.Ala84Gly)
n.2770C>G
1g.235806548G>TCA344956544LYSTc.2588C>A (p.Ala863Asp)
c.1991C>A (p.Ala664Asp)
n.3139C>A
c.251C>A (p.Ala84Asp)
n.2770C>A
1g.235806549C>ACA344956548LYSTc.2587G>T (p.Ala863Ser)
c.1990G>T (p.Ala664Ser)
n.3138G>T
c.250G>T (p.Ala84Ser)
n.2769G>T
1g.235806549C>GCA344956550LYSTc.2587G>C (p.Ala863Pro)
c.1990G>C (p.Ala664Pro)
n.3138G>C
c.250G>C (p.Ala84Pro)
n.2769G>C
1g.235806549C>TCA344956549LYSTc.2587G>A (p.Ala863Thr)
c.1990G>A (p.Ala664Thr)
n.3138G>A
c.250G>A (p.Ala84Thr)
n.2769G>A
gnomAD v4
1g.235806550T>ACA344956551LYSTc.2586A>T (p.Gln862His)
c.1989A>T (p.Gln663His)
n.3137A>T
c.249A>T (p.Gln83His)
n.2768A>T
1g.235806550T>CCA424027353LYSTc.2586A>G (p.Gln862=)
c.1989A>G (p.Gln663=)
n.3137A>G
c.249A>G (p.Gln83=)
n.2768A>G
1g.235806550T>GCA344956553LYSTc.2586A>C (p.Gln862His)
c.1989A>C (p.Gln663His)
n.3137A>C
c.249A>C (p.Gln83His)
n.2768A>C
1g.235806551T>ACA344956556LYSTc.2585A>T (p.Gln862Leu)
c.1988A>T (p.Gln663Leu)
n.3136A>T
c.248A>T (p.Gln83Leu)
n.2767A>T
1g.235806551T>CCA344956557LYSTc.2585A>G (p.Gln862Arg)
c.1988A>G (p.Gln663Arg)
n.3136A>G
c.248A>G (p.Gln83Arg)
n.2767A>G
dbSNP gnomAD v4
1g.235806551T>GCA344956558LYSTc.2585A>C (p.Gln862Pro)
c.1988A>C (p.Gln663Pro)
n.3136A>C
c.248A>C (p.Gln83Pro)
n.2767A>C
1g.235806551T=CA2486650219LYSTc.2585A= (p.Gln862=)
c.1988A= (p.Gln663=)
n.3136A=
c.248A= (p.Gln83=)
n.2767A=
1g.235806552G>ACA344956559LYSTc.2584C>T (p.Gln862Ter)
c.1987C>T (p.Gln663Ter)
n.3135C>T
c.247C>T (p.Gln83Ter)
n.2766C>T
1g.235806552G>CCA344956560LYSTc.2584C>G (p.Gln862Glu)
c.1987C>G (p.Gln663Glu)
n.3135C>G
c.247C>G (p.Gln83Glu)
n.2766C>G
1g.235806552G>TCA344956561LYSTc.2584C>A (p.Gln862Lys)
c.1987C>A (p.Gln663Lys)
n.3135C>A
c.247C>A (p.Gln83Lys)
n.2766C>A
1g.235806553C>ACA344956563LYSTc.2583G>T (p.Gln861His)
c.1986G>T (p.Gln662His)
n.3134G>T
c.246G>T (p.Gln82His)
n.2765G>T
1g.235806553C>GCA344956565LYSTc.2583G>C (p.Gln861His)
c.1986G>C (p.Gln662His)
n.3134G>C
c.246G>C (p.Gln82His)
n.2765G>C
1g.235806553C>TCA424027358LYSTc.2583G>A (p.Gln861=)
c.1986G>A (p.Gln662=)
n.3134G>A
c.246G>A (p.Gln82=)
n.2765G>A
ClinVar gnomAD v4
1g.235806554T>ACA344956569LYSTc.2582A>T (p.Gln861Leu)
c.1985A>T (p.Gln662Leu)
n.3133A>T
c.245A>T (p.Gln82Leu)
n.2764A>T
1g.235806554T>CCA344956572LYSTc.2582A>G (p.Gln861Arg)
c.1985A>G (p.Gln662Arg)
n.3133A>G
c.245A>G (p.Gln82Arg)
n.2764A>G
1g.235806554T>GCA344956573LYSTc.2582A>C (p.Gln861Pro)
c.1985A>C (p.Gln662Pro)
n.3133A>C
c.245A>C (p.Gln82Pro)
n.2764A>C
1g.235806555G>ACA344956575LYSTc.2581C>T (p.Gln861Ter)
c.1984C>T (p.Gln662Ter)
n.3132C>T
c.244C>T (p.Gln82Ter)
n.2763C>T
1g.235806555G>CCA344956577LYSTc.2581C>G (p.Gln861Glu)
c.1984C>G (p.Gln662Glu)
n.3132C>G
c.244C>G (p.Gln82Glu)
n.2763C>G
1g.235806555G>TCA344956576LYSTc.2581C>A (p.Gln861Lys)
c.1984C>A (p.Gln662Lys)
n.3132C>A
c.244C>A (p.Gln82Lys)
n.2763C>A
1g.235806556A=CA2486650220LYSTc.2580T= (p.His860=)
c.1983T= (p.His661=)
n.3131T=
c.243T= (p.His81=)
n.2762T=
1g.235806556A>CCA344956578LYSTc.2580T>G (p.His860Gln)
c.1983T>G (p.His661Gln)
n.3131T>G
c.243T>G (p.His81Gln)
n.2762T>G
gnomAD v4
1g.235806556A>GCA424027368LYSTc.2580T>C (p.His860=)
c.1983T>C (p.His661=)
n.3131T>C
c.243T>C (p.His81=)
n.2762T>C
gnomAD v4
1g.235806556A>TCA1467249LYSTc.2580T>A (p.His860Gln)
c.1983T>A (p.His661Gln)
n.3131T>A
c.243T>A (p.His81Gln)
n.2762T>A
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806557T>ACA344956579LYSTc.2579A>T (p.His860Leu)
c.1982A>T (p.His661Leu)
n.3130A>T
c.242A>T (p.His81Leu)
n.2761A>T
1g.235806557T>CCA344956580LYSTc.2579A>G (p.His860Arg)
c.1982A>G (p.His661Arg)
n.3130A>G
c.242A>G (p.His81Arg)
n.2761A>G
1g.235806557T>GCA344956581LYSTc.2579A>C (p.His860Pro)
c.1982A>C (p.His661Pro)
n.3130A>C
c.242A>C (p.His81Pro)
n.2761A>C
1g.235806558G>ACA344956582LYSTc.2578C>T (p.His860Tyr)
c.1981C>T (p.His661Tyr)
n.3129C>T
c.241C>T (p.His81Tyr)
n.2760C>T
dbSNP gnomAD v4
1g.235806558G>CCA344956584LYSTc.2578C>G (p.His860Asp)
c.1981C>G (p.His661Asp)
n.3129C>G
c.241C>G (p.His81Asp)
n.2760C>G
1g.235806558G=CA2486650221LYSTc.2578C= (p.His860=)
c.1981C= (p.His661=)
n.3129C=
c.241C= (p.His81=)
n.2760C=
1g.235806558G>TCA344956586LYSTc.2578C>A (p.His860Asn)
c.1981C>A (p.His661Asn)
n.3129C>A
c.241C>A (p.His81Asn)
n.2760C>A
1g.235806559A>CCA344956588LYSTc.2577T>G (p.His859Gln)
c.1980T>G (p.His660Gln)
n.3128T>G
c.240T>G (p.His80Gln)
n.2759T>G
1g.235806559A>GCA424027373LYSTc.2577T>C (p.His859=)
c.1980T>C (p.His660=)
n.3128T>C
c.240T>C (p.His80=)
n.2759T>C
1g.235806559A>TCA344956589LYSTc.2577T>A (p.His859Gln)
c.1980T>A (p.His660Gln)
n.3128T>A
c.240T>A (p.His80Gln)
n.2759T>A
1g.235806560T>ACA1467250LYSTc.2576A>T (p.His859Leu)
c.1979A>T (p.His660Leu)
n.3127A>T
c.239A>T (p.His80Leu)
n.2758A>T
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806560T>CCA344956595LYSTc.2576A>G (p.His859Arg)
c.1979A>G (p.His660Arg)
n.3127A>G
c.239A>G (p.His80Arg)
n.2758A>G
dbSNP
1g.235806560T>GCA344956593LYSTc.2576A>C (p.His859Pro)
c.1979A>C (p.His660Pro)
n.3127A>C
c.239A>C (p.His80Pro)
n.2758A>C
1g.235806560T=CA2486650222LYSTc.2576A= (p.His859=)
c.1979A= (p.His660=)
n.3127A=
c.239A= (p.His80=)
n.2758A=
1g.235806561G>ACA344956602LYSTc.2575C>T (p.His859Tyr)
c.1978C>T (p.His660Tyr)
n.3126C>T
c.238C>T (p.His80Tyr)
n.2757C>T
gnomAD v4
1g.235806561G>CCA344956599LYSTc.2575C>G (p.His859Asp)
c.1978C>G (p.His660Asp)
n.3126C>G
c.238C>G (p.His80Asp)
n.2757C>G
1g.235806561G>TCA344956601LYSTc.2575C>A (p.His859Asn)
c.1978C>A (p.His660Asn)
n.3126C>A
c.238C>A (p.His80Asn)
n.2757C>A
1g.235806562A>CCA344956605LYSTc.2574T>G (p.Phe858Leu)
c.1977T>G (p.Phe659Leu)
n.3125T>G
c.237T>G (p.Phe79Leu)
n.2756T>G
1g.235806562A>GCA424027378LYSTc.2574T>C (p.Phe858=)
c.1977T>C (p.Phe659=)
n.3125T>C
c.237T>C (p.Phe79=)
n.2756T>C
1g.235806562A>TCA344956607LYSTc.2574T>A (p.Phe858Leu)
c.1977T>A (p.Phe659Leu)
n.3125T>A
c.237T>A (p.Phe79Leu)
n.2756T>A
1g.235806563A>CCA344956609LYSTc.2573T>G (p.Phe858Cys)
c.1976T>G (p.Phe659Cys)
n.3124T>G
c.236T>G (p.Phe79Cys)
n.2755T>G
gnomAD v4
1g.235806563A>GCA344956611LYSTc.2573T>C (p.Phe858Ser)
c.1976T>C (p.Phe659Ser)
n.3124T>C
c.236T>C (p.Phe79Ser)
n.2755T>C
1g.235806563A>TCA344956612LYSTc.2573T>A (p.Phe858Tyr)
c.1976T>A (p.Phe659Tyr)
n.3124T>A
c.236T>A (p.Phe79Tyr)
n.2755T>A
1g.235806564A>CCA344956615LYSTc.2572T>G (p.Phe858Val)
c.1975T>G (p.Phe659Val)
n.3123T>G
c.235T>G (p.Phe79Val)
n.2754T>G
1g.235806564A>GCA344956617LYSTc.2572T>C (p.Phe858Leu)
c.1975T>C (p.Phe659Leu)
n.3123T>C
c.235T>C (p.Phe79Leu)
n.2754T>C
1g.235806564A>TCA344956618LYSTc.2572T>A (p.Phe858Ile)
c.1975T>A (p.Phe659Ile)
n.3123T>A
c.235T>A (p.Phe79Ile)
n.2754T>A
1g.235806565A>CCA424027380LYSTc.2571T>G (p.Ser857=)
c.1974T>G (p.Ser658=)
n.3122T>G
c.234T>G (p.Ser78=)
n.2753T>G
1g.235806565A>GCA424027381LYSTc.2571T>C (p.Ser857=)
c.1974T>C (p.Ser658=)
n.3122T>C
c.234T>C (p.Ser78=)
n.2753T>C
1g.235806565A>TCA424027382LYSTc.2571T>A (p.Ser857=)
c.1974T>A (p.Ser658=)
n.3122T>A
c.234T>A (p.Ser78=)
n.2753T>A
1g.235806566G>ACA344956621LYSTc.2570C>T (p.Ser857Phe)
c.1973C>T (p.Ser658Phe)
n.3121C>T
c.233C>T (p.Ser78Phe)
n.2752C>T
1g.235806566G>CCA1467251LYSTc.2570C>G (p.Ser857Cys)
c.1973C>G (p.Ser658Cys)
n.3121C>G
c.233C>G (p.Ser78Cys)
n.2752C>G
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806566G=CA1141980344LYSTc.2570C= (p.Ser857=)
c.1973C= (p.Ser658=)
n.3121C=
c.233C= (p.Ser78=)
n.2752C=
1g.235806566G>TCA344956623LYSTc.2570C>A (p.Ser857Tyr)
c.1973C>A (p.Ser658Tyr)
n.3121C>A
c.233C>A (p.Ser78Tyr)
n.2752C>A
COSMIC
1g.235806567A>CCA344956630LYSTc.2569T>G (p.Ser857Ala)
c.1972T>G (p.Ser658Ala)
n.3120T>G
c.232T>G (p.Ser78Ala)
n.2751T>G
1g.235806567A>GCA344956626LYSTc.2569T>C (p.Ser857Pro)
c.1972T>C (p.Ser658Pro)
n.3120T>C
c.232T>C (p.Ser78Pro)
n.2751T>C
1g.235806567A>TCA344956628LYSTc.2569T>A (p.Ser857Thr)
c.1972T>A (p.Ser658Thr)
n.3120T>A
c.232T>A (p.Ser78Thr)
n.2751T>A
1g.235806568A>CCA424027388LYSTc.2568T>G (p.Thr856=)
c.1971T>G (p.Thr657=)
n.3119T>G
c.231T>G (p.Thr77=)
n.2750T>G
ClinVar
1g.235806568A>GCA424027390LYSTc.2568T>C (p.Thr856=)
c.1971T>C (p.Thr657=)
n.3119T>C
c.231T>C (p.Thr77=)
n.2750T>C
1g.235806568A>TCA424027391LYSTc.2568T>A (p.Thr856=)
c.1971T>A (p.Thr657=)
n.3119T>A
c.231T>A (p.Thr77=)
n.2750T>A
1g.235806569G>ACA344956633LYSTc.2567C>T (p.Thr856Ile)
c.1970C>T (p.Thr657Ile)
n.3118C>T
c.230C>T (p.Thr77Ile)
n.2749C>T
ClinVar dbSNP gnomAD v2 gnomAD v4
1g.235806569G>CCA344956634LYSTc.2567C>G (p.Thr856Ser)
c.1970C>G (p.Thr657Ser)
n.3118C>G
c.230C>G (p.Thr77Ser)
n.2749C>G
1g.235806569G=CA2486650223LYSTc.2567C= (p.Thr856=)
c.1970C= (p.Thr657=)
n.3118C=
c.230C= (p.Thr77=)
n.2749C=
1g.235806569G>TCA344956636LYSTc.2567C>A (p.Thr856Asn)
c.1970C>A (p.Thr657Asn)
n.3118C>A
c.230C>A (p.Thr77Asn)
n.2749C>A
gnomAD v4
1g.235806570T>ACA344956639LYSTc.2566A>T (p.Thr856Ser)
c.1969A>T (p.Thr657Ser)
n.3117A>T
c.229A>T (p.Thr77Ser)
n.2748A>T
dbSNP gnomAD v3 gnomAD v4
1g.235806570T>CCA344956641LYSTc.2566A>G (p.Thr856Ala)
c.1969A>G (p.Thr657Ala)
n.3117A>G
c.229A>G (p.Thr77Ala)
n.2748A>G
1g.235806570T>GCA344956643LYSTc.2566A>C (p.Thr856Pro)
c.1969A>C (p.Thr657Pro)
n.3117A>C
c.229A>C (p.Thr77Pro)
n.2748A>C
1g.235806570T=CA2486650224LYSTc.2566A= (p.Thr856=)
c.1969A= (p.Thr657=)
n.3117A=
c.229A= (p.Thr77=)
n.2748A=
1g.235806571A=CA2486650225LYSTc.2565T= (p.Gly855=)
c.1968T= (p.Gly656=)
n.3116T=
c.228T= (p.Gly76=)
n.2747T=
1g.235806571A>CCA424027394LYSTc.2565T>G (p.Gly855=)
c.1968T>G (p.Gly656=)
n.3116T>G
c.228T>G (p.Gly76=)
n.2747T>G
1g.235806571A>GCA424027395LYSTc.2565T>C (p.Gly855=)
c.1968T>C (p.Gly656=)
n.3116T>C
c.228T>C (p.Gly76=)
n.2747T>C
1g.235806571A>TCA1467252LYSTc.2565T>A (p.Gly855=)
c.1968T>A (p.Gly656=)
n.3116T>A
c.228T>A (p.Gly76=)
n.2747T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806572C>ACA344956647LYSTc.2564G>T (p.Gly855Val)
c.1967G>T (p.Gly656Val)
n.3115G>T
c.227G>T (p.Gly76Val)
n.2746G>T
dbSNP
1g.235806572C=CA2486650226LYSTc.2564G= (p.Gly855=)
c.1967G= (p.Gly656=)
n.3115G=
c.227G= (p.Gly76=)
n.2746G=
1g.235806572C>GCA344956649LYSTc.2564G>C (p.Gly855Ala)
c.1967G>C (p.Gly656Ala)
n.3115G>C
c.227G>C (p.Gly76Ala)
n.2746G>C
1g.235806572C>TCA344956651LYSTc.2564G>A (p.Gly855Asp)
c.1967G>A (p.Gly656Asp)
n.3115G>A
c.227G>A (p.Gly76Asp)
n.2746G>A
dbSNP gnomAD v4
1g.235806573C>ACA344956653LYSTc.2563G>T (p.Gly855Cys)
c.1966G>T (p.Gly656Cys)
n.3114G>T
c.226G>T (p.Gly76Cys)
n.2745G>T
1g.235806573C>GCA344956655LYSTc.2563G>C (p.Gly855Arg)
c.1966G>C (p.Gly656Arg)
n.3114G>C
c.226G>C (p.Gly76Arg)
n.2745G>C
1g.235806573C>TCA344956657LYSTc.2563G>A (p.Gly855Ser)
c.1966G>A (p.Gly656Ser)
n.3114G>A
c.226G>A (p.Gly76Ser)
n.2745G>A
ClinVar
1g.235806574C>ACA424027399LYSTc.2562G>T (p.Val854=)
c.1965G>T (p.Val655=)
n.3113G>T
c.225G>T (p.Val75=)
n.2744G>T
1g.235806574C>GCA424027401LYSTc.2562G>C (p.Val854=)
c.1965G>C (p.Val655=)
n.3113G>C
c.225G>C (p.Val75=)
n.2744G>C
1g.235806574C>TCA424027402LYSTc.2562G>A (p.Val854=)
c.1965G>A (p.Val655=)
n.3113G>A
c.225G>A (p.Val75=)
n.2744G>A
1g.235806575A>CCA344956661LYSTc.2561T>G (p.Val854Gly)
c.1964T>G (p.Val655Gly)
n.3112T>G
c.224T>G (p.Val75Gly)
n.2743T>G
1g.235806575A>GCA344956664LYSTc.2561T>C (p.Val854Ala)
c.1964T>C (p.Val655Ala)
n.3112T>C
c.224T>C (p.Val75Ala)
n.2743T>C
1g.235806575A>TCA344956660LYSTc.2561T>A (p.Val854Glu)
c.1964T>A (p.Val655Glu)
n.3112T>A
c.224T>A (p.Val75Glu)
n.2743T>A
1g.235806576C>ACA344956665LYSTc.2560G>T (p.Val854Leu)
c.1963G>T (p.Val655Leu)
n.3111G>T
c.223G>T (p.Val75Leu)
n.2742G>T
1g.235806576C=CA2486650227LYSTc.2560G= (p.Val854=)
c.1963G= (p.Val655=)
n.3111G=
c.223G= (p.Val75=)
n.2742G=
1g.235806576C>GCA344956668LYSTc.2560G>C (p.Val854Leu)
c.1963G>C (p.Val655Leu)
n.3111G>C
c.223G>C (p.Val75Leu)
n.2742G>C
1g.235806576C>TCA344956666LYSTc.2560G>A (p.Val854Met)
c.1963G>A (p.Val655Met)
n.3111G>A
c.223G>A (p.Val75Met)
n.2742G>A
dbSNP gnomAD v2
1g.235806577A=CA2486650228LYSTc.2559T= (p.His853=)
c.1962T= (p.His654=)
n.3110T=
c.222T= (p.His74=)
n.2741T=
1g.235806577A>CCA344956670LYSTc.2559T>G (p.His853Gln)
c.1962T>G (p.His654Gln)
n.3110T>G
c.222T>G (p.His74Gln)
n.2741T>G
1g.235806577A>GCA424027407LYSTc.2559T>C (p.His853=)
c.1962T>C (p.His654=)
n.3110T>C
c.222T>C (p.His74=)
n.2741T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806577A>TCA344956672LYSTc.2559T>A (p.His853Gln)
c.1962T>A (p.His654Gln)
n.3110T>A
c.222T>A (p.His74Gln)
n.2741T>A
1g.235806578T>ACA344956674LYSTc.2558A>T (p.His853Leu)
c.1961A>T (p.His654Leu)
n.3109A>T
c.221A>T (p.His74Leu)
n.2740A>T
1g.235806578T>CCA1467253LYSTc.2558A>G (p.His853Arg)
c.1961A>G (p.His654Arg)
n.3109A>G
c.221A>G (p.His74Arg)
n.2740A>G
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806578T>GCA344956678LYSTc.2558A>C (p.His853Pro)
c.1961A>C (p.His654Pro)
n.3109A>C
c.221A>C (p.His74Pro)
n.2740A>C
1g.235806578T=CA2486650229LYSTc.2558A= (p.His853=)
c.1961A= (p.His654=)
n.3109A=
c.221A= (p.His74=)
n.2740A=
1g.235806579G>ACA344956680LYSTc.2557C>T (p.His853Tyr)
c.1960C>T (p.His654Tyr)
n.3108C>T
c.220C>T (p.His74Tyr)
n.2739C>T
1g.235806579G>CCA344956682LYSTc.2557C>G (p.His853Asp)
c.1960C>G (p.His654Asp)
n.3108C>G
c.220C>G (p.His74Asp)
n.2739C>G
1g.235806579G>TCA344956683LYSTc.2557C>A (p.His853Asn)
c.1960C>A (p.His654Asn)
n.3108C>A
c.220C>A (p.His74Asn)
n.2739C>A
1g.235806580T>ACA424027416LYSTc.2556A>T (p.Val852=)
c.1959A>T (p.Val653=)
n.3107A>T
c.219A>T (p.Val73=)
n.2738A>T
ClinVar
1g.235806580T>CCA424027413LYSTc.2556A>G (p.Val852=)
c.1959A>G (p.Val653=)
n.3107A>G
c.219A>G (p.Val73=)
n.2738A>G
1g.235806580T>GCA424027412LYSTc.2556A>C (p.Val852=)
c.1959A>C (p.Val653=)
n.3107A>C
c.219A>C (p.Val73=)
n.2738A>C
1g.235806581A=CA1148728152LYSTc.2555T= (p.Val852=)
c.1958T= (p.Val653=)
n.3106T=
c.218T= (p.Val73=)
n.2737T=
1g.235806581A>CCA344956685LYSTc.2555T>G (p.Val852Gly)
c.1958T>G (p.Val653Gly)
n.3106T>G
c.218T>G (p.Val73Gly)
n.2737T>G
1g.235806581A>GCA1467254LYSTc.2555T>C (p.Val852Ala)
c.1958T>C (p.Val653Ala)
n.3106T>C
c.218T>C (p.Val73Ala)
n.2737T>C
dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806581A>TCA344956687LYSTc.2555T>A (p.Val852Glu)
c.1958T>A (p.Val653Glu)
n.3106T>A
c.218T>A (p.Val73Glu)
n.2737T>A
1g.235806582C>ACA344956693LYSTc.2554G>T (p.Val852Leu)
c.1957G>T (p.Val653Leu)
n.3105G>T
c.217G>T (p.Val73Leu)
n.2736G>T
1g.235806582C=CA2486650230LYSTc.2554G= (p.Val852=)
c.1957G= (p.Val653=)
n.3105G=
c.217G= (p.Val73=)
n.2736G=
1g.235806582C>GCA344956692LYSTc.2554G>C (p.Val852Leu)
c.1957G>C (p.Val653Leu)
n.3105G>C
c.217G>C (p.Val73Leu)
n.2736G>C
dbSNP
1g.235806582C>TCA344956690LYSTc.2554G>A (p.Val852Ile)
c.1957G>A (p.Val653Ile)
n.3105G>A
c.217G>A (p.Val73Ile)
n.2736G>A
ClinVar dbSNP
1g.235806583A=CA2486650231LYSTc.2553T= (p.Ser851=)
c.1956T= (p.Ser652=)
n.3104T=
c.216T= (p.Ser72=)
n.2735T=
1g.235806583A>CCA424027420LYSTc.2553T>G (p.Ser851=)
c.1956T>G (p.Ser652=)
n.3104T>G
c.216T>G (p.Ser72=)
n.2735T>G
1g.235806583A>GCA1467255LYSTc.2553T>C (p.Ser851=)
c.1956T>C (p.Ser652=)
n.3104T>C
c.216T>C (p.Ser72=)
n.2735T>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806583A>TCA424027421LYSTc.2553T>A (p.Ser851=)
c.1956T>A (p.Ser652=)
n.3104T>A
c.216T>A (p.Ser72=)
n.2735T>A
1g.235806584G>ACA344956696LYSTc.2552C>T (p.Ser851Phe)
c.1955C>T (p.Ser652Phe)
n.3103C>T
c.215C>T (p.Ser72Phe)
n.2734C>T
dbSNP
1g.235806584G>CCA344956698LYSTc.2552C>G (p.Ser851Cys)
c.1955C>G (p.Ser652Cys)
n.3103C>G
c.215C>G (p.Ser72Cys)
n.2734C>G
1g.235806584G=CA2486650232LYSTc.2552C= (p.Ser851=)
c.1955C= (p.Ser652=)
n.3103C=
c.215C= (p.Ser72=)
n.2734C=
1g.235806584G>TCA344956700LYSTc.2552C>A (p.Ser851Tyr)
c.1955C>A (p.Ser652Tyr)
n.3103C>A
c.215C>A (p.Ser72Tyr)
n.2734C>A
1g.235806585A=CA2486650233LYSTc.2551T= (p.Ser851=)
c.1954T= (p.Ser652=)
n.3102T=
c.214T= (p.Ser72=)
n.2733T=
1g.235806585A>CCA344956702LYSTc.2551T>G (p.Ser851Ala)
c.1954T>G (p.Ser652Ala)
n.3102T>G
c.214T>G (p.Ser72Ala)
n.2733T>G
1g.235806585A>GCA344956704LYSTc.2551T>C (p.Ser851Pro)
c.1954T>C (p.Ser652Pro)
n.3102T>C
c.214T>C (p.Ser72Pro)
n.2733T>C
gnomAD v4
1g.235806585A>TCA344956705LYSTc.2551T>A (p.Ser851Thr)
c.1954T>A (p.Ser652Thr)
n.3102T>A
c.214T>A (p.Ser72Thr)
n.2733T>A
dbSNP
1g.235806586G>ACA424027427LYSTc.2550C>T (p.Ser850=)
c.1953C>T (p.Ser651=)
n.3101C>T
c.213C>T (p.Ser71=)
n.2732C>T
gnomAD v4
1g.235806586G>CCA424027429LYSTc.2550C>G (p.Ser850=)
c.1953C>G (p.Ser651=)
n.3101C>G
c.213C>G (p.Ser71=)
n.2732C>G
1g.235806586G>TCA424027430LYSTc.2550C>A (p.Ser850=)
c.1953C>A (p.Ser651=)
n.3101C>A
c.213C>A (p.Ser71=)
n.2732C>A
1g.235806587G>ACA344956708LYSTc.2549C>T (p.Ser850Phe)
c.1952C>T (p.Ser651Phe)
n.3100C>T
c.212C>T (p.Ser71Phe)
n.2731C>T
1g.235806587G>CCA344956709LYSTc.2549C>G (p.Ser850Cys)
c.1952C>G (p.Ser651Cys)
n.3100C>G
c.212C>G (p.Ser71Cys)
n.2731C>G
1g.235806587G>TCA344956710LYSTc.2549C>A (p.Ser850Tyr)
c.1952C>A (p.Ser651Tyr)
n.3100C>A
c.212C>A (p.Ser71Tyr)
n.2731C>A
1g.235806588A=CA2486650234LYSTc.2548T= (p.Ser850=)
c.1951T= (p.Ser651=)
n.3099T=
c.211T= (p.Ser71=)
n.2730T=
1g.235806588A>CCA344956713LYSTc.2548T>G (p.Ser850Ala)
c.1951T>G (p.Ser651Ala)
n.3099T>G
c.211T>G (p.Ser71Ala)
n.2730T>G
1g.235806588A>GCA344956714LYSTc.2548T>C (p.Ser850Pro)
c.1951T>C (p.Ser651Pro)
n.3099T>C
c.211T>C (p.Ser71Pro)
n.2730T>C
1g.235806588A>TCA1467256LYSTc.2548T>A (p.Ser850Thr)
c.1951T>A (p.Ser651Thr)
n.3099T>A
c.211T>A (p.Ser71Thr)
n.2730T>A
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806589C>ACA344956718LYSTc.2547G>T (p.Leu849Phe)
c.1950G>T (p.Leu650Phe)
n.3098G>T
c.210G>T (p.Leu70Phe)
n.2729G>T
gnomAD v4
1g.235806589C>GCA344956724LYSTc.2547G>C (p.Leu849Phe)
c.1950G>C (p.Leu650Phe)
n.3098G>C
c.210G>C (p.Leu70Phe)
n.2729G>C
1g.235806589C>TCA424027438LYSTc.2547G>A (p.Leu849=)
c.1950G>A (p.Leu650=)
n.3098G>A
c.210G>A (p.Leu70=)
n.2729G>A
1g.235806590A=CA2486650235LYSTc.2546T= (p.Leu849=)
c.1949T= (p.Leu650=)
n.3097T=
c.209T= (p.Leu70=)
n.2728T=
1g.235806590A>CCA344956727LYSTc.2546T>G (p.Leu849Trp)
c.1949T>G (p.Leu650Trp)
n.3097T>G
c.209T>G (p.Leu70Trp)
n.2728T>G
1g.235806590A>GCA344956729LYSTc.2546T>C (p.Leu849Ser)
c.1949T>C (p.Leu650Ser)
n.3097T>C
c.209T>C (p.Leu70Ser)
n.2728T>C
ClinVar dbSNP gnomAD v4
1g.235806590A>TCA344956732LYSTc.2546T>A (p.Leu849Ter)
c.1949T>A (p.Leu650Ter)
n.3097T>A
c.209T>A (p.Leu70Ter)
n.2728T>A
1g.235806591A>CCA344956735LYSTc.2545T>G (p.Leu849Val)
c.1948T>G (p.Leu650Val)
n.3096T>G
c.208T>G (p.Leu70Val)
n.2727T>G
1g.235806591A>GCA424027441LYSTc.2545T>C (p.Leu849=)
c.1948T>C (p.Leu650=)
n.3096T>C
c.208T>C (p.Leu70=)
n.2727T>C
1g.235806591A>TCA344956736LYSTc.2545T>A (p.Leu849Met)
c.1948T>A (p.Leu650Met)
n.3096T>A
c.208T>A (p.Leu70Met)
n.2727T>A
1g.235806592C>ACA344956739LYSTc.2544G>T (p.Glu848Asp)
c.1947G>T (p.Glu649Asp)
n.3095G>T
c.207G>T (p.Glu69Asp)
n.2726G>T
1g.235806592C>GCA344956741LYSTc.2544G>C (p.Glu848Asp)
c.1947G>C (p.Glu649Asp)
n.3095G>C
c.207G>C (p.Glu69Asp)
n.2726G>C
1g.235806592C>TCA424027444LYSTc.2544G>A (p.Glu848=)
c.1947G>A (p.Glu649=)
n.3095G>A
c.207G>A (p.Glu69=)
n.2726G>A
gnomAD v4
1g.235806593T>ACA344956744LYSTc.2543A>T (p.Glu848Val)
c.1946A>T (p.Glu649Val)
n.3094A>T
c.206A>T (p.Glu69Val)
n.2725A>T
1g.235806593T>CCA344956746LYSTc.2543A>G (p.Glu848Gly)
c.1946A>G (p.Glu649Gly)
n.3094A>G
c.206A>G (p.Glu69Gly)
n.2725A>G
1g.235806593T>GCA344956747LYSTc.2543A>C (p.Glu848Ala)
c.1946A>C (p.Glu649Ala)
n.3094A>C
c.206A>C (p.Glu69Ala)
n.2725A>C
gnomAD v4
1g.235806593dupCA2574164016LYSTc.2543dup (p.Leu849ValfsTer?)
c.1946dup (p.Leu650ValfsTer?)
n.3094dup
c.206dup (p.Leu70ValfsTer?)
n.2725dup
1g.235806594C>ACA344956750LYSTc.2542G>T (p.Glu848Ter)
c.1945G>T (p.Glu649Ter)
n.3093G>T
c.205G>T (p.Glu69Ter)
n.2724G>T
1g.235806594C=CA2486650237LYSTc.2542G= (p.Glu848=)
c.1945G= (p.Glu649=)
n.3093G=
c.205G= (p.Glu69=)
n.2724G=
1g.235806594C>GCA344956752LYSTc.2542G>C (p.Glu848Gln)
c.1945G>C (p.Glu649Gln)
n.3093G>C
c.205G>C (p.Glu69Gln)
n.2724G>C
gnomAD v4
1g.235806594C>TCA344956753LYSTc.2542G>A (p.Glu848Lys)
c.1945G>A (p.Glu649Lys)
n.3093G>A
c.205G>A (p.Glu69Lys)
n.2724G>A
dbSNP
1g.235806594_235806597delinsCCTTCA2486650236LYSTc.2539_2542delinsAAGG (p.Lys847=)
c.1942_1945delinsAAGG (p.Lys648=)
n.3090_3093delinsAAGG
c.202_205delinsAAGG (p.Lys68=)
n.2721_2724delinsAAGG
1g.235806595C>ACA344956759LYSTc.2541G>T (p.Lys847Asn)
c.1944G>T (p.Lys648Asn)
n.3092G>T
c.204G>T (p.Lys68Asn)
n.2723G>T
1g.235806595C>GCA344956755LYSTc.2541G>C (p.Lys847Asn)
c.1944G>C (p.Lys648Asn)
n.3092G>C
c.204G>C (p.Lys68Asn)
n.2723G>C
1g.235806595C>TCA424027572LYSTc.2541G>A (p.Lys847=)
c.1944G>A (p.Lys648=)
n.3092G>A
c.204G>A (p.Lys68=)
n.2723G>A
1g.235806595_235806596delinsCTCA2486650238LYSTc.2540_2541delinsAG (p.Lys847=)
c.1943_1944delinsAG (p.Lys648=)
n.3091_3092delinsAG
c.203_204delinsAG (p.Lys68=)
n.2722_2723delinsAG
1g.235806597_235806599delCA1467257LYSTc.2539_2541del (p.Lys847del)
c.1942_1944del (p.Lys648del)
n.3090_3092del
c.202_204del (p.Lys68del)
n.2721_2723del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806596T>ACA344956760LYSTc.2540A>T (p.Lys847Met)
c.1943A>T (p.Lys648Met)
n.3091A>T
c.203A>T (p.Lys68Met)
n.2722A>T
1g.235806596T>CCA344956762LYSTc.2540A>G (p.Lys847Arg)
c.1943A>G (p.Lys648Arg)
n.3091A>G
c.203A>G (p.Lys68Arg)
n.2722A>G
1g.235806596T>GCA344956764LYSTc.2540A>C (p.Lys847Thr)
c.1943A>C (p.Lys648Thr)
n.3091A>C
c.203A>C (p.Lys68Thr)
n.2722A>C
1g.235806597delCA2486650239LYSTc.2540del (p.Lys847ArgfsTer?)
c.1943del (p.Lys648ArgfsTer?)
n.3091del
c.203del (p.Lys68ArgfsTer?)
n.2722del
ClinVar dbSNP gnomAD v4
1g.235806597T>ACA344956766LYSTc.2539A>T (p.Lys847Ter)
c.1942A>T (p.Lys648Ter)
n.3090A>T
c.202A>T (p.Lys68Ter)
n.2721A>T
1g.235806597T>CCA344956768LYSTc.2539A>G (p.Lys847Glu)
c.1942A>G (p.Lys648Glu)
n.3090A>G
c.202A>G (p.Lys68Glu)
n.2721A>G
1g.235806597T>GCA344956770LYSTc.2539A>C (p.Lys847Gln)
c.1942A>C (p.Lys648Gln)
n.3090A>C
c.202A>C (p.Lys68Gln)
n.2721A>C
1g.235806598C>ACA344956772LYSTc.2538G>T (p.Gln846His)
c.1941G>T (p.Gln647His)
n.3089G>T
c.201G>T (p.Gln67His)
n.2720G>T
1g.235806598C=CA2486650240LYSTc.2538G= (p.Gln846=)
c.1941G= (p.Gln647=)
n.3089G=
c.201G= (p.Gln67=)
n.2720G=
1g.235806598C>GCA344956774LYSTc.2538G>C (p.Gln846His)
c.1941G>C (p.Gln647His)
n.3089G>C
c.201G>C (p.Gln67His)
n.2720G>C
dbSNP gnomAD v4
1g.235806598C>TCA424027573LYSTc.2538G>A (p.Gln846=)
c.1941G>A (p.Gln647=)
n.3089G>A
c.201G>A (p.Gln67=)
n.2720G>A
1g.235806599T>ACA344956777LYSTc.2537A>T (p.Gln846Leu)
c.1940A>T (p.Gln647Leu)
n.3088A>T
c.200A>T (p.Gln67Leu)
n.2719A>T
dbSNP gnomAD v2 gnomAD v4
1g.235806599T>CCA344956778LYSTc.2537A>G (p.Gln846Arg)
c.1940A>G (p.Gln647Arg)
n.3088A>G
c.200A>G (p.Gln67Arg)
n.2719A>G
1g.235806599T>GCA344956780LYSTc.2537A>C (p.Gln846Pro)
c.1940A>C (p.Gln647Pro)
n.3088A>C
c.200A>C (p.Gln67Pro)
n.2719A>C
1g.235806599T=CA2486650241LYSTc.2537A= (p.Gln846=)
c.1940A= (p.Gln647=)
n.3088A=
c.200A= (p.Gln67=)
n.2719A=
1g.235806600G>ACA344956783LYSTc.2536C>T (p.Gln846Ter)
c.1939C>T (p.Gln647Ter)
n.3087C>T
c.199C>T (p.Gln67Ter)
n.2718C>T
1g.235806600G>CCA344956786LYSTc.2536C>G (p.Gln846Glu)
c.1939C>G (p.Gln647Glu)
n.3087C>G
c.199C>G (p.Gln67Glu)
n.2718C>G
gnomAD v4
1g.235806600G>TCA344956785LYSTc.2536C>A (p.Gln846Lys)
c.1939C>A (p.Gln647Lys)
n.3087C>A
c.199C>A (p.Gln67Lys)
n.2718C>A
1g.235806601T>ACA344956788LYSTc.2535A>T (p.Glu845Asp)
c.1938A>T (p.Glu646Asp)
n.3086A>T
c.198A>T (p.Glu66Asp)
n.2717A>T
1g.235806601T>CCA424027574LYSTc.2535A>G (p.Glu845=)
c.1938A>G (p.Glu646=)
n.3086A>G
c.198A>G (p.Glu66=)
n.2717A>G
1g.235806601T>GCA344956790LYSTc.2535A>C (p.Glu845Asp)
c.1938A>C (p.Glu646Asp)
n.3086A>C
c.198A>C (p.Glu66Asp)
n.2717A>C
1g.235806602T>ACA344956793LYSTc.2534A>T (p.Glu845Val)
c.1937A>T (p.Glu646Val)
n.3085A>T
c.197A>T (p.Glu66Val)
n.2716A>T
1g.235806602T>CCA344956796LYSTc.2534A>G (p.Glu845Gly)
c.1937A>G (p.Glu646Gly)
n.3085A>G
c.197A>G (p.Glu66Gly)
n.2716A>G
1g.235806602T>GCA344956794LYSTc.2534A>C (p.Glu845Ala)
c.1937A>C (p.Glu646Ala)
n.3085A>C
c.197A>C (p.Glu66Ala)
n.2716A>C
1g.235806603C>ACA344956798LYSTc.2533G>T (p.Glu845Ter)
c.1936G>T (p.Glu646Ter)
n.3084G>T
c.196G>T (p.Glu66Ter)
n.2715G>T
1g.235806603C>GCA344956802LYSTc.2533G>C (p.Glu845Gln)
c.1936G>C (p.Glu646Gln)
n.3084G>C
c.196G>C (p.Glu66Gln)
n.2715G>C
1g.235806603C>TCA344956799LYSTc.2533G>A (p.Glu845Lys)
c.1936G>A (p.Glu646Lys)
n.3084G>A
c.196G>A (p.Glu66Lys)
n.2715G>A
1g.235806604A=CA2486650242LYSTc.2532T= (p.Ile844=)
c.1935T= (p.Ile645=)
n.3083T=
c.195T= (p.Ile65=)
n.2714T=
1g.235806604A>CCA344956804LYSTc.2532T>G (p.Ile844Met)
c.1935T>G (p.Ile645Met)
n.3083T>G
c.195T>G (p.Ile65Met)
n.2714T>G
1g.235806604A>GCA424027576LYSTc.2532T>C (p.Ile844=)
c.1935T>C (p.Ile645=)
n.3083T>C
c.195T>C (p.Ile65=)
n.2714T>C
dbSNP gnomAD v3 gnomAD v4
1g.235806604A>TCA424027575LYSTc.2532T>A (p.Ile844=)
c.1935T>A (p.Ile645=)
n.3083T>A
c.195T>A (p.Ile65=)
n.2714T>A

Number of alleles fetched