Chr Mutation (hg38) CAid Gene Transcript Linkouts
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
1g.235806605A=CA2486650243LYSTc.2531T= (p.Ile844=)
c.1934T= (p.Ile645=)
n.3082T=
c.194T= (p.Ile65=)
n.2713T=
1g.235806605A>CCA344956806LYSTc.2531T>G (p.Ile844Ser)
c.1934T>G (p.Ile645Ser)
n.3082T>G
c.194T>G (p.Ile65Ser)
n.2713T>G
 ClinVar
1g.235806605A>GCA344956808LYSTc.2531T>C (p.Ile844Thr)
c.1934T>C (p.Ile645Thr)
n.3082T>C
c.194T>C (p.Ile65Thr)
n.2713T>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806605A>TCA344956809LYSTc.2531T>A (p.Ile844Asn)
c.1934T>A (p.Ile645Asn)
n.3082T>A
c.194T>A (p.Ile65Asn)
n.2713T>A
1g.235806606T>ACA344956813LYSTc.2530A>T (p.Ile844Phe)
c.1933A>T (p.Ile645Phe)
n.3081A>T
c.193A>T (p.Ile65Phe)
n.2712A>T
1g.235806606T>CCA344956815LYSTc.2530A>G (p.Ile844Val)
c.1933A>G (p.Ile645Val)
n.3081A>G
c.193A>G (p.Ile65Val)
n.2712A>G
1g.235806606T>GCA344956817LYSTc.2530A>C (p.Ile844Leu)
c.1933A>C (p.Ile645Leu)
n.3081A>C
c.193A>C (p.Ile65Leu)
n.2712A>C
1g.235806607G>ACA424027577LYSTc.2529C>T (p.Asp843=)
c.1932C>T (p.Asp644=)
n.3080C>T
c.192C>T (p.Asp64=)
n.2711C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806607G>CCA344956819LYSTc.2529C>G (p.Asp843Glu)
c.1932C>G (p.Asp644Glu)
n.3080C>G
c.192C>G (p.Asp64Glu)
n.2711C>G
 gnomAD v4 COSMIC
1g.235806607G=CA2486650244LYSTc.2529C= (p.Asp843=)
c.1932C= (p.Asp644=)
n.3080C=
c.192C= (p.Asp64=)
n.2711C=
1g.235806607G>TCA344956821LYSTc.2529C>A (p.Asp843Glu)
c.1932C>A (p.Asp644Glu)
n.3080C>A
c.192C>A (p.Asp64Glu)
n.2711C>A
1g.235806608T>ACA344956824LYSTc.2528A>T (p.Asp843Val)
c.1931A>T (p.Asp644Val)
n.3079A>T
c.191A>T (p.Asp64Val)
n.2710A>T
1g.235806608T>CCA344956825LYSTc.2528A>G (p.Asp843Gly)
c.1931A>G (p.Asp644Gly)
n.3079A>G
c.191A>G (p.Asp64Gly)
n.2710A>G
1g.235806608T>GCA344956828LYSTc.2528A>C (p.Asp843Ala)
c.1931A>C (p.Asp644Ala)
n.3079A>C
c.191A>C (p.Asp64Ala)
n.2710A>C
1g.235806609C>ACA344956833LYSTc.2527G>T (p.Asp843Tyr)
c.1930G>T (p.Asp644Tyr)
n.3078G>T
c.190G>T (p.Asp64Tyr)
n.2709G>T
1g.235806609C>GCA344956830LYSTc.2527G>C (p.Asp843His)
c.1930G>C (p.Asp644His)
n.3078G>C
c.190G>C (p.Asp64His)
n.2709G>C
1g.235806609C>TCA344956832LYSTc.2527G>A (p.Asp843Asn)
c.1930G>A (p.Asp644Asn)
n.3078G>A
c.190G>A (p.Asp64Asn)
n.2709G>A
1g.235806610T>ACA424027578LYSTc.2526A>T (p.Ile842=)
c.1929A>T (p.Ile643=)
n.3077A>T
c.189A>T (p.Ile63=)
n.2708A>T
1g.235806610T>CCA344956836LYSTc.2526A>G (p.Ile842Met)
c.1929A>G (p.Ile643Met)
n.3077A>G
c.189A>G (p.Ile63Met)
n.2708A>G
1g.235806610T>GCA424027579LYSTc.2526A>C (p.Ile842=)
c.1929A>C (p.Ile643=)
n.3077A>C
c.189A>C (p.Ile63=)
n.2708A>C
1g.235806611A=CA2486650245LYSTc.2525T= (p.Ile842=)
c.1928T= (p.Ile643=)
n.3076T=
c.188T= (p.Ile63=)
n.2707T=
1g.235806611A>CCA344956838LYSTc.2525T>G (p.Ile842Arg)
c.1928T>G (p.Ile643Arg)
n.3076T>G
c.188T>G (p.Ile63Arg)
n.2707T>G
1g.235806611A>GCA1467258LYSTc.2525T>C (p.Ile842Thr)
c.1928T>C (p.Ile643Thr)
n.3076T>C
c.188T>C (p.Ile63Thr)
n.2707T>C
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806611A>TCA344956842LYSTc.2525T>A (p.Ile842Lys)
c.1928T>A (p.Ile643Lys)
n.3076T>A
c.188T>A (p.Ile63Lys)
n.2707T>A
1g.235806612T>ACA344956843LYSTc.2524A>T (p.Ile842Leu)
c.1927A>T (p.Ile643Leu)
n.3075A>T
c.187A>T (p.Ile63Leu)
n.2706A>T
1g.235806612T>CCA344956845LYSTc.2524A>G (p.Ile842Val)
c.1927A>G (p.Ile643Val)
n.3075A>G
c.187A>G (p.Ile63Val)
n.2706A>G
1g.235806612T>GCA344956847LYSTc.2524A>C (p.Ile842Leu)
c.1927A>C (p.Ile643Leu)
n.3075A>C
c.187A>C (p.Ile63Leu)
n.2706A>C
 dbSNP
1g.235806612T=CA2486650246LYSTc.2524A= (p.Ile842=)
c.1927A= (p.Ile643=)
n.3075A=
c.187A= (p.Ile63=)
n.2706A=
1g.235806613C>ACA424027580LYSTc.2523G>T (p.Gly841=)
c.1926G>T (p.Gly642=)
n.3074G>T
c.186G>T (p.Gly62=)
n.2705G>T
1g.235806613C=CA2486650247LYSTc.2523G= (p.Gly841=)
c.1926G= (p.Gly642=)
n.3074G=
c.186G= (p.Gly62=)
n.2705G=
1g.235806613C>GCA424027581LYSTc.2523G>C (p.Gly841=)
c.1926G>C (p.Gly642=)
n.3074G>C
c.186G>C (p.Gly62=)
n.2705G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.235806613C>TCA424027582LYSTc.2523G>A (p.Gly841=)
c.1926G>A (p.Gly642=)
n.3074G>A
c.186G>A (p.Gly62=)
n.2705G>A
 ClinVar
1g.235806614C>ACA344956849LYSTc.2522G>T (p.Gly841Val)
c.1925G>T (p.Gly642Val)
n.3073G>T
c.185G>T (p.Gly62Val)
n.2704G>T
1g.235806614C=CA2486650248LYSTc.2522G= (p.Gly841=)
c.1925G= (p.Gly642=)
n.3073G=
c.185G= (p.Gly62=)
n.2704G=
1g.235806614C>GCA344956851LYSTc.2522G>C (p.Gly841Ala)
c.1925G>C (p.Gly642Ala)
n.3073G>C
c.185G>C (p.Gly62Ala)
n.2704G>C
1g.235806614C>TCA344956853LYSTc.2522G>A (p.Gly841Glu)
c.1925G>A (p.Gly642Glu)
n.3073G>A
c.185G>A (p.Gly62Glu)
n.2704G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.235806615C>ACA344956859LYSTc.2521G>T (p.Gly841Trp)
c.1924G>T (p.Gly642Trp)
n.3072G>T
c.184G>T (p.Gly62Trp)
n.2703G>T
1g.235806615C=CA2486650249LYSTc.2521G= (p.Gly841=)
c.1924G= (p.Gly642=)
n.3072G=
c.184G= (p.Gly62=)
n.2703G=
1g.235806615C>GCA1467259LYSTc.2521G>C (p.Gly841Arg)
c.1924G>C (p.Gly642Arg)
n.3072G>C
c.184G>C (p.Gly62Arg)
n.2703G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806615C>TCA344956856LYSTc.2521G>A (p.Gly841Arg)
c.1924G>A (p.Gly642Arg)
n.3072G>A
c.184G>A (p.Gly62Arg)
n.2703G>A
1g.235806616A=CA2486650250LYSTc.2520T= (p.Asp840=)
c.1923T= (p.Asp641=)
n.3071T=
c.183T= (p.Asp61=)
n.2702T=
1g.235806616A>CCA344956861LYSTc.2520T>G (p.Asp840Glu)
c.1923T>G (p.Asp641Glu)
n.3071T>G
c.183T>G (p.Asp61Glu)
n.2702T>G
1g.235806616A>GCA424027583LYSTc.2520T>C (p.Asp840=)
c.1923T>C (p.Asp641=)
n.3071T>C
c.183T>C (p.Asp61=)
n.2702T>C
1g.235806616A>TCA1467260LYSTc.2520T>A (p.Asp840Glu)
c.1923T>A (p.Asp641Glu)
n.3071T>A
c.183T>A (p.Asp61Glu)
n.2702T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806617T>ACA344956866LYSTc.2519A>T (p.Asp840Val)
c.1922A>T (p.Asp641Val)
n.3070A>T
c.182A>T (p.Asp61Val)
n.2701A>T
1g.235806617T>CCA344956868LYSTc.2519A>G (p.Asp840Gly)
c.1922A>G (p.Asp641Gly)
n.3070A>G
c.182A>G (p.Asp61Gly)
n.2701A>G
 gnomAD v4
1g.235806617T>GCA344956870LYSTc.2519A>C (p.Asp840Ala)
c.1922A>C (p.Asp641Ala)
n.3070A>C
c.182A>C (p.Asp61Ala)
n.2701A>C
1g.235806618C>ACA344956872LYSTc.2518G>T (p.Asp840Tyr)
c.1921G>T (p.Asp641Tyr)
n.3069G>T
c.181G>T (p.Asp61Tyr)
n.2700G>T
1g.235806618C=CA2486650251LYSTc.2518G= (p.Asp840=)
c.1921G= (p.Asp641=)
n.3069G=
c.181G= (p.Asp61=)
n.2700G=
1g.235806618C>GCA344956873LYSTc.2518G>C (p.Asp840His)
c.1921G>C (p.Asp641His)
n.3069G>C
c.181G>C (p.Asp61His)
n.2700G>C
1g.235806618C>TCA1467261LYSTc.2518G>A (p.Asp840Asn)
c.1921G>A (p.Asp641Asn)
n.3069G>A
c.181G>A (p.Asp61Asn)
n.2700G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806619A=CA1141079812LYSTc.2517T= (p.Ile839=)
c.1920T= (p.Ile640=)
n.3068T=
c.180T= (p.Ile60=)
n.2699T=
1g.235806619A>CCA39616375LYSTc.2517T>G (p.Ile839Met)
c.1920T>G (p.Ile640Met)
n.3068T>G
c.180T>G (p.Ile60Met)
n.2699T>G
 dbSNP
1g.235806619A>GCA1467262LYSTc.2517T>C (p.Ile839=)
c.1920T>C (p.Ile640=)
n.3068T>C
c.180T>C (p.Ile60=)
n.2699T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806619A>TCA424027584LYSTc.2517T>A (p.Ile839=)
c.1920T>A (p.Ile640=)
n.3068T>A
c.180T>A (p.Ile60=)
n.2699T>A
1g.235806620A>CCA344956880LYSTc.2516T>G (p.Ile839Ser)
c.1919T>G (p.Ile640Ser)
n.3067T>G
c.179T>G (p.Ile60Ser)
n.2698T>G
1g.235806620A>GCA344956882LYSTc.2516T>C (p.Ile839Thr)
c.1919T>C (p.Ile640Thr)
n.3067T>C
c.179T>C (p.Ile60Thr)
n.2698T>C
1g.235806620A>TCA344956884LYSTc.2516T>A (p.Ile839Asn)
c.1919T>A (p.Ile640Asn)
n.3067T>A
c.179T>A (p.Ile60Asn)
n.2698T>A
1g.235806621T>ACA344956886LYSTc.2515A>T (p.Ile839Phe)
c.1918A>T (p.Ile640Phe)
n.3066A>T
c.178A>T (p.Ile60Phe)
n.2697A>T
1g.235806621T>CCA344956889LYSTc.2515A>G (p.Ile839Val)
c.1918A>G (p.Ile640Val)
n.3066A>G
c.178A>G (p.Ile60Val)
n.2697A>G
1g.235806621T>GCA344956888LYSTc.2515A>C (p.Ile839Leu)
c.1918A>C (p.Ile640Leu)
n.3066A>C
c.178A>C (p.Ile60Leu)
n.2697A>C
1g.235806622A=CA2486650252LYSTc.2514T= (p.Asp838=)
c.1917T= (p.Asp639=)
n.3065T=
c.177T= (p.Asp59=)
n.2696T=
1g.235806622A>CCA39616378LYSTc.2514T>G (p.Asp838Glu)
c.1917T>G (p.Asp639Glu)
n.3065T>G
c.177T>G (p.Asp59Glu)
n.2696T>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.235806622A>GCA424027586LYSTc.2514T>C (p.Asp838=)
c.1917T>C (p.Asp639=)
n.3065T>C
c.177T>C (p.Asp59=)
n.2696T>C
1g.235806622A>TCA39616380LYSTc.2514T>A (p.Asp838Glu)
c.1917T>A (p.Asp639Glu)
n.3065T>A
c.177T>A (p.Asp59Glu)
n.2696T>A
 ClinVar dbSNP
1g.235806623T>ACA344956890LYSTc.2513A>T (p.Asp838Val)
c.1916A>T (p.Asp639Val)
n.3064A>T
c.176A>T (p.Asp59Val)
n.2695A>T
 dbSNP gnomAD v2 gnomAD v4
1g.235806623T>CCA344956891LYSTc.2513A>G (p.Asp838Gly)
c.1916A>G (p.Asp639Gly)
n.3064A>G
c.176A>G (p.Asp59Gly)
n.2695A>G
 dbSNP
1g.235806623T>GCA344956892LYSTc.2513A>C (p.Asp838Ala)
c.1916A>C (p.Asp639Ala)
n.3064A>C
c.176A>C (p.Asp59Ala)
n.2695A>C
1g.235806623T=CA2486650253LYSTc.2513A= (p.Asp838=)
c.1916A= (p.Asp639=)
n.3064A=
c.176A= (p.Asp59=)
n.2695A=
1g.235806624C>ACA344956894LYSTc.2512G>T (p.Asp838Tyr)
c.1915G>T (p.Asp639Tyr)
n.3063G>T
c.175G>T (p.Asp59Tyr)
n.2694G>T
1g.235806624C>GCA344956896LYSTc.2512G>C (p.Asp838His)
c.1915G>C (p.Asp639His)
n.3063G>C
c.175G>C (p.Asp59His)
n.2694G>C
1g.235806624C>TCA344956897LYSTc.2512G>A (p.Asp838Asn)
c.1915G>A (p.Asp639Asn)
n.3063G>A
c.175G>A (p.Asp59Asn)
n.2694G>A
 gnomAD v4
1g.235806625T>ACA424027594LYSTc.2511A>T (p.Pro837=)
c.1914A>T (p.Pro638=)
n.3062A>T
c.174A>T (p.Pro58=)
n.2693A>T
1g.235806625T>CCA39616383LYSTc.2511A>G (p.Pro837=)
c.1914A>G (p.Pro638=)
n.3062A>G
c.174A>G (p.Pro58=)
n.2693A>G
 dbSNP
1g.235806625T>GCA424027595LYSTc.2511A>C (p.Pro837=)
c.1914A>C (p.Pro638=)
n.3062A>C
c.174A>C (p.Pro58=)
n.2693A>C
1g.235806625T=CA2486650254LYSTc.2511A= (p.Pro837=)
c.1914A= (p.Pro638=)
n.3062A=
c.174A= (p.Pro58=)
n.2693A=
1g.235806626G>ACA344956899LYSTc.2510C>T (p.Pro837Leu)
c.1913C>T (p.Pro638Leu)
n.3061C>T
c.173C>T (p.Pro58Leu)
n.2692C>T
1g.235806626G>CCA344956901LYSTc.2510C>G (p.Pro837Arg)
c.1913C>G (p.Pro638Arg)
n.3061C>G
c.173C>G (p.Pro58Arg)
n.2692C>G
1g.235806626G>TCA344956903LYSTc.2510C>A (p.Pro837Gln)
c.1913C>A (p.Pro638Gln)
n.3061C>A
c.173C>A (p.Pro58Gln)
n.2692C>A
1g.235806627G>ACA344956909LYSTc.2509C>T (p.Pro837Ser)
c.1912C>T (p.Pro638Ser)
n.3060C>T
c.172C>T (p.Pro58Ser)
n.2691C>T
 COSMIC
1g.235806627G>CCA344956907LYSTc.2509C>G (p.Pro837Ala)
c.1912C>G (p.Pro638Ala)
n.3060C>G
c.172C>G (p.Pro58Ala)
n.2691C>G
 ClinVar
1g.235806627G>TCA344956904LYSTc.2509C>A (p.Pro837Thr)
c.1912C>A (p.Pro638Thr)
n.3060C>A
c.172C>A (p.Pro58Thr)
n.2691C>A
 gnomAD v4
1g.235806628A>CCA424027601LYSTc.2508T>G (p.Val836=)
c.1911T>G (p.Val637=)
n.3059T>G
c.171T>G (p.Val57=)
n.2690T>G
1g.235806628A>GCA424027605LYSTc.2508T>C (p.Val836=)
c.1911T>C (p.Val637=)
n.3059T>C
c.171T>C (p.Val57=)
n.2690T>C
1g.235806628A>TCA424027606LYSTc.2508T>A (p.Val836=)
c.1911T>A (p.Val637=)
n.3059T>A
c.171T>A (p.Val57=)
n.2690T>A
1g.235806629A>CCA344956915LYSTc.2507T>G (p.Val836Gly)
c.1910T>G (p.Val637Gly)
n.3058T>G
c.170T>G (p.Val57Gly)
n.2689T>G
1g.235806629A>GCA344956911LYSTc.2507T>C (p.Val836Ala)
c.1910T>C (p.Val637Ala)
n.3058T>C
c.170T>C (p.Val57Ala)
n.2689T>C
1g.235806629A>TCA344956913LYSTc.2507T>A (p.Val836Asp)
c.1910T>A (p.Val637Asp)
n.3058T>A
c.170T>A (p.Val57Asp)
n.2689T>A
1g.235806630C>ACA344956916LYSTc.2506G>T (p.Val836Phe)
c.1909G>T (p.Val637Phe)
n.3057G>T
c.169G>T (p.Val57Phe)
n.2688G>T
1g.235806630C>GCA344956918LYSTc.2506G>C (p.Val836Leu)
c.1909G>C (p.Val637Leu)
n.3057G>C
c.169G>C (p.Val57Leu)
n.2688G>C
1g.235806630C>TCA344956920LYSTc.2506G>A (p.Val836Ile)
c.1909G>A (p.Val637Ile)
n.3057G>A
c.169G>A (p.Val57Ile)
n.2688G>A
 COSMIC
1g.235806631T>ACA424027608LYSTc.2505A>T (p.Ser835=)
c.1908A>T (p.Ser636=)
n.3056A>T
c.168A>T (p.Ser56=)
n.2687A>T
1g.235806631T>CCA424027610LYSTc.2505A>G (p.Ser835=)
c.1908A>G (p.Ser636=)
n.3056A>G
c.168A>G (p.Ser56=)
n.2687A>G
 ClinVar
1g.235806631T>GCA424027609LYSTc.2505A>C (p.Ser835=)
c.1908A>C (p.Ser636=)
n.3056A>C
c.168A>C (p.Ser56=)
n.2687A>C
1g.235806632G>ACA344956922LYSTc.2504C>T (p.Ser835Leu)
c.1907C>T (p.Ser636Leu)
n.3055C>T
c.167C>T (p.Ser56Leu)
n.2686C>T
1g.235806632G>CCA344956924LYSTc.2504C>G (p.Ser835Ter)
c.1907C>G (p.Ser636Ter)
n.3055C>G
c.167C>G (p.Ser56Ter)
n.2686C>G
1g.235806632G>TCA344956926LYSTc.2504C>A (p.Ser835Ter)
c.1907C>A (p.Ser636Ter)
n.3055C>A
c.167C>A (p.Ser56Ter)
n.2686C>A
1g.235806633A>CCA344956928LYSTc.2503T>G (p.Ser835Ala)
c.1906T>G (p.Ser636Ala)
n.3054T>G
c.166T>G (p.Ser56Ala)
n.2685T>G
1g.235806633A>GCA344956932LYSTc.2503T>C (p.Ser835Pro)
c.1906T>C (p.Ser636Pro)
n.3054T>C
c.166T>C (p.Ser56Pro)
n.2685T>C
1g.235806633A>TCA344956930LYSTc.2503T>A (p.Ser835Thr)
c.1906T>A (p.Ser636Thr)
n.3054T>A
c.166T>A (p.Ser56Thr)
n.2685T>A
1g.235806634G>ACA1467263LYSTc.2502C>T (p.Ala834=)
c.1905C>T (p.Ala635=)
n.3053C>T
c.165C>T (p.Ala55=)
n.2684C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806634G>CCA424027617LYSTc.2502C>G (p.Ala834=)
c.1905C>G (p.Ala635=)
n.3053C>G
c.165C>G (p.Ala55=)
n.2684C>G
 dbSNP gnomAD v3 gnomAD v4
1g.235806634G=CA2486650255LYSTc.2502C= (p.Ala834=)
c.1905C= (p.Ala635=)
n.3053C=
c.165C= (p.Ala55=)
n.2684C=
1g.235806634G>TCA424027619LYSTc.2502C>A (p.Ala834=)
c.1905C>A (p.Ala635=)
n.3053C>A
c.165C>A (p.Ala55=)
n.2684C>A
1g.235806635G>ACA344956936LYSTc.2501C>T (p.Ala834Val)
c.1904C>T (p.Ala635Val)
n.3052C>T
c.164C>T (p.Ala55Val)
n.2683C>T
 dbSNP
1g.235806635G>CCA344956938LYSTc.2501C>G (p.Ala834Gly)
c.1904C>G (p.Ala635Gly)
n.3052C>G
c.164C>G (p.Ala55Gly)
n.2683C>G
1g.235806635G=CA2486650256LYSTc.2501C= (p.Ala834=)
c.1904C= (p.Ala635=)
n.3052C=
c.164C= (p.Ala55=)
n.2683C=
1g.235806635G>TCA344956940LYSTc.2501C>A (p.Ala834Asp)
c.1904C>A (p.Ala635Asp)
n.3052C>A
c.164C>A (p.Ala55Asp)
n.2683C>A
1g.235806636C>ACA344956942LYSTc.2500G>T (p.Ala834Ser)
c.1903G>T (p.Ala635Ser)
n.3051G>T
c.163G>T (p.Ala55Ser)
n.2682G>T
 gnomAD v4
1g.235806636C=CA2486650257LYSTc.2500G= (p.Ala834=)
c.1903G= (p.Ala635=)
n.3051G=
c.163G= (p.Ala55=)
n.2682G=
1g.235806636C>GCA344956946LYSTc.2500G>C (p.Ala834Pro)
c.1903G>C (p.Ala635Pro)
n.3051G>C
c.163G>C (p.Ala55Pro)
n.2682G>C
1g.235806636C>TCA344956944LYSTc.2500G>A (p.Ala834Thr)
c.1903G>A (p.Ala635Thr)
n.3051G>A
c.163G>A (p.Ala55Thr)
n.2682G>A
 dbSNP gnomAD v2 gnomAD v4
1g.235806637A=CA2486650258LYSTc.2499T= (p.Asp833=)
c.1902T= (p.Asp634=)
n.3050T=
c.162T= (p.Asp54=)
n.2681T=
1g.235806637A>CCA344956949LYSTc.2499T>G (p.Asp833Glu)
c.1902T>G (p.Asp634Glu)
n.3050T>G
c.162T>G (p.Asp54Glu)
n.2681T>G
1g.235806637A>GCA1467264LYSTc.2499T>C (p.Asp833=)
c.1902T>C (p.Asp634=)
n.3050T>C
c.162T>C (p.Asp54=)
n.2681T>C
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806637A>TCA344956952LYSTc.2499T>A (p.Asp833Glu)
c.1902T>A (p.Asp634Glu)
n.3050T>A
c.162T>A (p.Asp54Glu)
n.2681T>A
1g.235806638T>ACA344956954LYSTc.2498A>T (p.Asp833Val)
c.1901A>T (p.Asp634Val)
n.3049A>T
c.161A>T (p.Asp54Val)
n.2680A>T
1g.235806638T>CCA344956956LYSTc.2498A>G (p.Asp833Gly)
c.1901A>G (p.Asp634Gly)
n.3049A>G
c.161A>G (p.Asp54Gly)
n.2680A>G
 dbSNP gnomAD v2 gnomAD v4
1g.235806638T>GCA344956957LYSTc.2498A>C (p.Asp833Ala)
c.1901A>C (p.Asp634Ala)
n.3049A>C
c.161A>C (p.Asp54Ala)
n.2680A>C
1g.235806638T=CA2486650259LYSTc.2498A= (p.Asp833=)
c.1901A= (p.Asp634=)
n.3049A=
c.161A= (p.Asp54=)
n.2680A=
1g.235806639C>ACA344956959LYSTc.2497G>T (p.Asp833Tyr)
c.1900G>T (p.Asp634Tyr)
n.3048G>T
c.160G>T (p.Asp54Tyr)
n.2679G>T
 COSMIC
1g.235806639C>GCA344956960LYSTc.2497G>C (p.Asp833His)
c.1900G>C (p.Asp634His)
n.3048G>C
c.160G>C (p.Asp54His)
n.2679G>C
1g.235806639C>TCA344956962LYSTc.2497G>A (p.Asp833Asn)
c.1900G>A (p.Asp634Asn)
n.3048G>A
c.160G>A (p.Asp54Asn)
n.2679G>A
 gnomAD v4
1g.235806640T>ACA344956964LYSTc.2496A>T (p.Lys832Asn)
c.1899A>T (p.Lys633Asn)
n.3047A>T
c.159A>T (p.Lys53Asn)
n.2678A>T
1g.235806640T>CCA1467265LYSTc.2496A>G (p.Lys832=)
c.1899A>G (p.Lys633=)
n.3047A>G
c.159A>G (p.Lys53=)
n.2678A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.235806640T>GCA344956966LYSTc.2496A>C (p.Lys832Asn)
c.1899A>C (p.Lys633Asn)
n.3047A>C
c.159A>C (p.Lys53Asn)
n.2678A>C
1g.235806640T=CA1146821198LYSTc.2496A= (p.Lys832=)
c.1899A= (p.Lys633=)
n.3047A=
c.159A= (p.Lys53=)
n.2678A=
1g.235806641T>ACA344956969LYSTc.2495A>T (p.Lys832Ile)
c.1898A>T (p.Lys633Ile)
n.3046A>T
c.158A>T (p.Lys53Ile)
n.2677A>T
1g.235806641T>CCA344956972LYSTc.2495A>G (p.Lys832Arg)
c.1898A>G (p.Lys633Arg)
n.3046A>G
c.158A>G (p.Lys53Arg)
n.2677A>G
1g.235806641T>GCA344956970LYSTc.2495A>C (p.Lys832Thr)
c.1898A>C (p.Lys633Thr)
n.3046A>C
c.158A>C (p.Lys53Thr)
n.2677A>C
 dbSNP gnomAD v2 gnomAD v4
1g.235806641T=CA2486650260LYSTc.2495A= (p.Lys832=)
c.1898A= (p.Lys633=)
n.3046A=
c.158A= (p.Lys53=)
n.2677A=
1g.235806642T>ACA344956975LYSTc.2494A>T (p.Lys832Ter)
c.1897A>T (p.Lys633Ter)
n.3045A>T
c.157A>T (p.Lys53Ter)
n.2676A>T
1g.235806642T>CCA344956978LYSTc.2494A>G (p.Lys832Glu)
c.1897A>G (p.Lys633Glu)
n.3045A>G
c.157A>G (p.Lys53Glu)
n.2676A>G
 dbSNP gnomAD v3 gnomAD v4
1g.235806642T>GCA344956980LYSTc.2494A>C (p.Lys832Gln)
c.1897A>C (p.Lys633Gln)
n.3045A>C
c.157A>C (p.Lys53Gln)
n.2676A>C
1g.235806642T=CA2486650261LYSTc.2494A= (p.Lys832=)
c.1897A= (p.Lys633=)
n.3045A=
c.157A= (p.Lys53=)
n.2676A=
1g.235806643C>ACA344956982LYSTc.2493G>T (p.Gln831His)
c.1896G>T (p.Gln632His)
n.3044G>T
c.156G>T (p.Gln52His)
n.2675G>T
1g.235806643C>GCA344956984LYSTc.2493G>C (p.Gln831His)
c.1896G>C (p.Gln632His)
n.3044G>C
c.156G>C (p.Gln52His)
n.2675G>C
1g.235806643C>TCA424027639LYSTc.2493G>A (p.Gln831=)
c.1896G>A (p.Gln632=)
n.3044G>A
c.156G>A (p.Gln52=)
n.2675G>A
 gnomAD v4
1g.235806644T>ACA344956985LYSTc.2492A>T (p.Gln831Leu)
c.1895A>T (p.Gln632Leu)
n.3043A>T
c.155A>T (p.Gln52Leu)
n.2674A>T
1g.235806644T>CCA344956987LYSTc.2492A>G (p.Gln831Arg)
c.1895A>G (p.Gln632Arg)
n.3043A>G
c.155A>G (p.Gln52Arg)
n.2674A>G
 dbSNP
1g.235806644T>GCA344956989LYSTc.2492A>C (p.Gln831Pro)
c.1895A>C (p.Gln632Pro)
n.3043A>C
c.155A>C (p.Gln52Pro)
n.2674A>C
1g.235806644T=CA2486650262LYSTc.2492A= (p.Gln831=)
c.1895A= (p.Gln632=)
n.3043A=
c.155A= (p.Gln52=)
n.2674A=
1g.235806645_235806646delCA2651137532LYSTc.2491_2492del (p.Gln831GlufsTer9)
c.1894_1895del (p.Gln632GlufsTer9)
n.3042_3043del
c.154_155del (p.Gln52GlufsTer9)
n.2673_2674del
 gnomAD v4
1g.235806645G>ACA344956990LYSTc.2491C>T (p.Gln831Ter)
c.1894C>T (p.Gln632Ter)
n.3042C>T
c.154C>T (p.Gln52Ter)
n.2673C>T
 gnomAD v4
1g.235806645G>CCA344956991LYSTc.2491C>G (p.Gln831Glu)
c.1894C>G (p.Gln632Glu)
n.3042C>G
c.154C>G (p.Gln52Glu)
n.2673C>G
1g.235806645G>TCA344956992LYSTc.2491C>A (p.Gln831Lys)
c.1894C>A (p.Gln632Lys)
n.3042C>A
c.154C>A (p.Gln52Lys)
n.2673C>A
1g.235806646T>ACA344956994LYSTc.2490A>T (p.Gln830His)
c.1893A>T (p.Gln631His)
n.3041A>T
c.153A>T (p.Gln51His)
n.2672A>T
1g.235806646T>CCA424027647LYSTc.2490A>G (p.Gln830=)
c.1893A>G (p.Gln631=)
n.3041A>G
c.153A>G (p.Gln51=)
n.2672A>G
1g.235806646T>GCA344956996LYSTc.2490A>C (p.Gln830His)
c.1893A>C (p.Gln631His)
n.3041A>C
c.153A>C (p.Gln51His)
n.2672A>C
1g.235806647T>ACA344957002LYSTc.2489A>T (p.Gln830Leu)
c.1892A>T (p.Gln631Leu)
n.3040A>T
c.152A>T (p.Gln51Leu)
n.2671A>T
1g.235806647T>CCA344956998LYSTc.2489A>G (p.Gln830Arg)
c.1892A>G (p.Gln631Arg)
n.3040A>G
c.152A>G (p.Gln51Arg)
n.2671A>G
1g.235806647T>GCA344957000LYSTc.2489A>C (p.Gln830Pro)
c.1892A>C (p.Gln631Pro)
n.3040A>C
c.152A>C (p.Gln51Pro)
n.2671A>C
1g.235806648G>ACA344957004LYSTc.2488C>T (p.Gln830Ter)
c.1891C>T (p.Gln631Ter)
n.3039C>T
c.151C>T (p.Gln51Ter)
n.2670C>T
1g.235806648G>CCA344957006LYSTc.2488C>G (p.Gln830Glu)
c.1891C>G (p.Gln631Glu)
n.3039C>G
c.151C>G (p.Gln51Glu)
n.2670C>G
 gnomAD v4
1g.235806648G>TCA344957007LYSTc.2488C>A (p.Gln830Lys)
c.1891C>A (p.Gln631Lys)
n.3039C>A
c.151C>A (p.Gln51Lys)
n.2670C>A
1g.235806649C>ACA344957009LYSTc.2487G>T (p.Glu829Asp)
c.1890G>T (p.Glu630Asp)
n.3038G>T
c.150G>T (p.Glu50Asp)
n.2669G>T
1g.235806649C=CA2486650263LYSTc.2487G= (p.Glu829=)
c.1890G= (p.Glu630=)
n.3038G=
c.150G= (p.Glu50=)
n.2669G=
1g.235806649C>GCA344957011LYSTc.2487G>C (p.Glu829Asp)
c.1890G>C (p.Glu630Asp)
n.3038G>C
c.150G>C (p.Glu50Asp)
n.2669G>C
1g.235806649C>TCA1467266LYSTc.2487G>A (p.Glu829=)
c.1890G>A (p.Glu630=)
n.3038G>A
c.150G>A (p.Glu50=)
n.2669G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.235806650T>ACA344957015LYSTc.2486A>T (p.Glu829Val)
c.1889A>T (p.Glu630Val)
n.3037A>T
c.149A>T (p.Glu50Val)
n.2668A>T
1g.235806650T>CCA344957016LYSTc.2486A>G (p.Glu829Gly)
c.1889A>G (p.Glu630Gly)
n.3037A>G
c.149A>G (p.Glu50Gly)
n.2668A>G
1g.235806650T>GCA344957017LYSTc.2486A>C (p.Glu829Ala)
c.1889A>C (p.Glu630Ala)
n.3037A>C
c.149A>C (p.Glu50Ala)
n.2668A>C
1g.235806651C>ACA344957020LYSTc.2485G>T (p.Glu829Ter)
c.1888G>T (p.Glu630Ter)
n.3036G>T
c.148G>T (p.Glu50Ter)
n.2667G>T
1g.235806651C>GCA344957022LYSTc.2485G>C (p.Glu829Gln)
c.1888G>C (p.Glu630Gln)
n.3036G>C
c.148G>C (p.Glu50Gln)
n.2667G>C
 gnomAD v4
1g.235806651C>TCA344957024LYSTc.2485G>A (p.Glu829Lys)
c.1888G>A (p.Glu630Lys)
n.3036G>A
c.148G>A (p.Glu50Lys)
n.2667G>A
1g.235806652C>ACA424027655LYSTc.2484G>T (p.Gly828=)
c.1887G>T (p.Gly629=)
n.3035G>T
c.147G>T (p.Gly49=)
n.2666G>T
1g.235806652C>GCA424027656LYSTc.2484G>C (p.Gly828=)
c.1887G>C (p.Gly629=)
n.3035G>C
c.147G>C (p.Gly49=)
n.2666G>C
1g.235806652C>TCA424027657LYSTc.2484G>A (p.Gly828=)
c.1887G>A (p.Gly629=)
n.3035G>A
c.147G>A (p.Gly49=)
n.2666G>A
 ClinVar gnomAD v4

Number of alleles fetched