Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.235806503_235806504delinsAG | CA2486650204 | LYST | c.2632_2633delinsCT (p.Leu878=) c.2035_2036delinsCT (p.Leu679=) n.3183_3184delinsCT c.295_296delinsCT (p.Leu99=) n.2814_2815delinsCT | |
1 | g.235806504G>A | CA344956209 | LYST | c.2632C>T (p.Leu878Phe) c.2035C>T (p.Leu679Phe) n.3183C>T c.295C>T (p.Leu99Phe) n.2814C>T | |
1 | g.235806504G>C | CA344956210 | LYST | c.2632C>G (p.Leu878Val) c.2035C>G (p.Leu679Val) n.3183C>G c.295C>G (p.Leu99Val) n.2814C>G | gnomAD v4 |
1 | g.235806504G>T | CA344956212 | LYST | c.2632C>A (p.Leu878Ile) c.2035C>A (p.Leu679Ile) n.3183C>A c.295C>A (p.Leu99Ile) n.2814C>A | |
1 | g.235806505del | CA2486650205 | LYST | c.2632del (p.Leu878SerfsTer21) c.2035del (p.Leu679SerfsTer21) n.3183del c.295del (p.Leu99SerfsTer21) n.2814del | dbSNP |
1 | g.235806505G>A | CA424027280 | LYST | c.2631C>T (p.Gly877=) c.2034C>T (p.Gly678=) n.3182C>T c.294C>T (p.Gly98=) n.2813C>T | |
1 | g.235806505G>C | CA424027281 | LYST | c.2631C>G (p.Gly877=) c.2034C>G (p.Gly678=) n.3182C>G c.294C>G (p.Gly98=) n.2813C>G | |
1 | g.235806505G>T | CA424027282 | LYST | c.2631C>A (p.Gly877=) c.2034C>A (p.Gly678=) n.3182C>A c.294C>A (p.Gly98=) n.2813C>A | |
1 | g.235806506C>A | CA344956215 | LYST | c.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 |
1 | g.235806506C= | CA2486650206 | LYST | c.2630G= (p.Gly877=) c.2033G= (p.Gly678=) n.3181G= c.293G= (p.Gly98=) n.2812G= | |
1 | g.235806506C>G | CA10609402 | LYST | c.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 |
1 | g.235806506C>T | CA344956218 | LYST | c.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 |
1 | g.235806507C>A | CA344956222 | LYST | c.2629G>T (p.Gly877Cys) c.2032G>T (p.Gly678Cys) n.3180G>T c.292G>T (p.Gly98Cys) n.2811G>T | |
1 | g.235806507C>G | CA344956224 | LYST | c.2629G>C (p.Gly877Arg) c.2032G>C (p.Gly678Arg) n.3180G>C c.292G>C (p.Gly98Arg) n.2811G>C | |
1 | g.235806507C>T | CA344956225 | LYST | c.2629G>A (p.Gly877Ser) c.2032G>A (p.Gly678Ser) n.3180G>A c.292G>A (p.Gly98Ser) n.2811G>A | |
1 | g.235806508A>C | CA424027285 | LYST | c.2628T>G (p.Ala876=) c.2031T>G (p.Ala677=) n.3179T>G c.291T>G (p.Ala97=) n.2810T>G | |
1 | g.235806508A>G | CA424027283 | LYST | c.2628T>C (p.Ala876=) c.2031T>C (p.Ala677=) n.3179T>C c.291T>C (p.Ala97=) n.2810T>C | |
1 | g.235806508A>T | CA424027284 | LYST | c.2628T>A (p.Ala876=) c.2031T>A (p.Ala677=) n.3179T>A c.291T>A (p.Ala97=) n.2810T>A | |
1 | g.235806509G>A | CA344956230 | LYST | c.2627C>T (p.Ala876Val) c.2030C>T (p.Ala677Val) n.3178C>T c.290C>T (p.Ala97Val) n.2809C>T | ClinVar |
1 | g.235806509G>C | CA1467243 | LYST | c.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 |
1 | g.235806509G= | CA2486650207 | LYST | c.2627C= (p.Ala876=) c.2030C= (p.Ala677=) n.3178C= c.290C= (p.Ala97=) n.2809C= | |
1 | g.235806509G>T | CA344956232 | LYST | c.2627C>A (p.Ala876Asp) c.2030C>A (p.Ala677Asp) n.3178C>A c.290C>A (p.Ala97Asp) n.2809C>A | |
1 | g.235806510C>A | CA344956240 | LYST | c.2626G>T (p.Ala876Ser) c.2029G>T (p.Ala677Ser) n.3177G>T c.289G>T (p.Ala97Ser) n.2808G>T | |
1 | g.235806510C>G | CA344956243 | LYST | c.2626G>C (p.Ala876Pro) c.2029G>C (p.Ala677Pro) n.3177G>C c.289G>C (p.Ala97Pro) n.2808G>C | |
1 | g.235806510C>T | CA344956245 | LYST | c.2626G>A (p.Ala876Thr) c.2029G>A (p.Ala677Thr) n.3177G>A c.289G>A (p.Ala97Thr) n.2808G>A | |
1 | g.235806511A>C | CA344956248 | LYST | c.2625T>G (p.Tyr875Ter) c.2028T>G (p.Tyr676Ter) n.3176T>G c.288T>G (p.Tyr96Ter) n.2807T>G | |
1 | g.235806511A>G | CA424027286 | LYST | c.2625T>C (p.Tyr875=) c.2028T>C (p.Tyr676=) n.3176T>C c.288T>C (p.Tyr96=) n.2807T>C | |
1 | g.235806511A>T | CA344956257 | LYST | c.2625T>A (p.Tyr875Ter) c.2028T>A (p.Tyr676Ter) n.3176T>A c.288T>A (p.Tyr96Ter) n.2807T>A | |
1 | g.235806512T>A | CA344956265 | LYST | c.2624A>T (p.Tyr875Phe) c.2027A>T (p.Tyr676Phe) n.3175A>T c.287A>T (p.Tyr96Phe) n.2806A>T | ClinVar |
1 | g.235806512T>C | CA1467244 | LYST | c.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 |
1 | g.235806512T>G | CA344956260 | LYST | c.2624A>C (p.Tyr875Ser) c.2027A>C (p.Tyr676Ser) n.3175A>C c.287A>C (p.Tyr96Ser) n.2806A>C | |
1 | g.235806512T= | CA2486650209 | LYST | c.2624A= (p.Tyr875=) c.2027A= (p.Tyr676=) n.3175A= c.287A= (p.Tyr96=) n.2806A= | |
1 | g.235806512_235806513delinsTA | CA2486650208 | LYST | c.2623_2624delinsTA (p.Tyr875=) c.2026_2027delinsTA (p.Tyr676=) n.3174_3175delinsTA c.286_287delinsTA (p.Tyr96=) n.2805_2806delinsTA | |
1 | g.235806513A= | CA2486650210 | LYST | c.2623T= (p.Tyr875=) c.2026T= (p.Tyr676=) n.3174T= c.286T= (p.Tyr96=) n.2805T= | |
1 | g.235806513A>C | CA344956272 | LYST | c.2623T>G (p.Tyr875Asp) c.2026T>G (p.Tyr676Asp) n.3174T>G c.286T>G (p.Tyr96Asp) n.2805T>G | |
1 | g.235806513A>G | CA1467245 | LYST | c.2623T>C (p.Tyr875His) c.2026T>C (p.Tyr676His) n.3174T>C c.286T>C (p.Tyr96His) n.2805T>C | dbSNP ExAC gnomAD v2 |
1 | g.235806513A>T | CA344956278 | LYST | c.2623T>A (p.Tyr875Asn) c.2026T>A (p.Tyr676Asn) n.3174T>A c.286T>A (p.Tyr96Asn) n.2805T>A | |
1 | g.235806513_235806516delinsAAAA | CA1141188442 | LYST | c.2620_2623delinsTTTT (p.Phe874=) c.2023_2026delinsTTTT (p.Phe675=) n.3171_3174delinsTTTT c.283_286delinsTTTT (p.Phe95=) n.2802_2805delinsTTTT | |
1 | g.235806516del | CA116460 | LYST | c.2623del (p.Tyr875MetfsTer24) c.2026del (p.Tyr676MetfsTer24) n.3174del c.286del (p.Tyr96MetfsTer24) n.2805del | ClinVar dbSNP |
1 | g.235806514A>C | CA344956280 | LYST | c.2622T>G (p.Phe874Leu) c.2025T>G (p.Phe675Leu) n.3173T>G c.285T>G (p.Phe95Leu) n.2804T>G | |
1 | g.235806514A>G | CA424027290 | LYST | c.2622T>C (p.Phe874=) c.2025T>C (p.Phe675=) n.3173T>C c.285T>C (p.Phe95=) n.2804T>C | |
1 | g.235806514A>T | CA344956281 | LYST | c.2622T>A (p.Phe874Leu) c.2025T>A (p.Phe675Leu) n.3173T>A c.285T>A (p.Phe95Leu) n.2804T>A | |
1 | g.235806515A>C | CA344956283 | LYST | c.2621T>G (p.Phe874Cys) c.2024T>G (p.Phe675Cys) n.3172T>G c.284T>G (p.Phe95Cys) n.2803T>G | |
1 | g.235806515A>G | CA344956290 | LYST | c.2621T>C (p.Phe874Ser) c.2024T>C (p.Phe675Ser) n.3172T>C c.284T>C (p.Phe95Ser) n.2803T>C | |
1 | g.235806515A>T | CA344956285 | LYST | c.2621T>A (p.Phe874Tyr) c.2024T>A (p.Phe675Tyr) n.3172T>A c.284T>A (p.Phe95Tyr) n.2803T>A | |
1 | g.235806516A>C | CA344956293 | LYST | c.2620T>G (p.Phe874Val) c.2023T>G (p.Phe675Val) n.3171T>G c.283T>G (p.Phe95Val) n.2802T>G | |
1 | g.235806516A>G | CA344956297 | LYST | c.2620T>C (p.Phe874Leu) c.2023T>C (p.Phe675Leu) n.3171T>C c.283T>C (p.Phe95Leu) n.2802T>C | |
1 | g.235806516A>T | CA344956301 | LYST | c.2620T>A (p.Phe874Ile) c.2023T>A (p.Phe675Ile) n.3171T>A c.283T>A (p.Phe95Ile) n.2802T>A | |
1 | g.235806517T>A | CA344956306 | LYST | c.2619A>T (p.Lys873Asn) c.2022A>T (p.Lys674Asn) n.3170A>T c.282A>T (p.Lys94Asn) n.2801A>T | |
1 | g.235806517T>C | CA424027292 | LYST | c.2619A>G (p.Lys873=) c.2022A>G (p.Lys674=) n.3170A>G c.282A>G (p.Lys94=) n.2801A>G | |
1 | g.235806517T>G | CA344956309 | LYST | c.2619A>C (p.Lys873Asn) c.2022A>C (p.Lys674Asn) n.3170A>C c.282A>C (p.Lys94Asn) n.2801A>C | |
1 | g.235806518T>A | CA344956312 | LYST | c.2618A>T (p.Lys873Ile) c.2021A>T (p.Lys674Ile) n.3169A>T c.281A>T (p.Lys94Ile) n.2800A>T | |
1 | g.235806518T>C | CA344956314 | LYST | c.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 |
1 | g.235806518T>G | CA344956316 | LYST | c.2618A>C (p.Lys873Thr) c.2021A>C (p.Lys674Thr) n.3169A>C c.281A>C (p.Lys94Thr) n.2800A>C | |
1 | g.235806518T= | CA2486650211 | LYST | c.2618A= (p.Lys873=) c.2021A= (p.Lys674=) n.3169A= c.281A= (p.Lys94=) n.2800A= | |
1 | g.235806519T>A | CA344956327 | LYST | c.2617A>T (p.Lys873Ter) c.2020A>T (p.Lys674Ter) n.3168A>T c.280A>T (p.Lys94Ter) n.2799A>T | |
1 | g.235806519T>C | CA344956330 | LYST | c.2617A>G (p.Lys873Glu) c.2020A>G (p.Lys674Glu) n.3168A>G c.280A>G (p.Lys94Glu) n.2799A>G | |
1 | g.235806519T>G | CA344956341 | LYST | c.2617A>C (p.Lys873Gln) c.2020A>C (p.Lys674Gln) n.3168A>C c.280A>C (p.Lys94Gln) n.2799A>C | |
1 | g.235806520G>A | CA424027297 | LYST | c.2616C>T (p.Ser872=) c.2019C>T (p.Ser673=) n.3167C>T c.279C>T (p.Ser93=) n.2798C>T | |
1 | g.235806520G>C | CA344956348 | LYST | c.2616C>G (p.Ser872Arg) c.2019C>G (p.Ser673Arg) n.3167C>G c.279C>G (p.Ser93Arg) n.2798C>G | |
1 | g.235806520G= | CA2486650212 | LYST | c.2616C= (p.Ser872=) c.2019C= (p.Ser673=) n.3167C= c.279C= (p.Ser93=) n.2798C= | |
1 | g.235806520G>T | CA344956344 | LYST | c.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 |
1 | g.235806521C>A | CA344956353 | LYST | c.2615G>T (p.Ser872Ile) c.2018G>T (p.Ser673Ile) n.3166G>T c.278G>T (p.Ser93Ile) n.2797G>T | |
1 | g.235806521C= | CA2486650213 | LYST | c.2615G= (p.Ser872=) c.2018G= (p.Ser673=) n.3166G= c.278G= (p.Ser93=) n.2797G= | |
1 | g.235806521C>G | CA344956358 | LYST | c.2615G>C (p.Ser872Thr) c.2018G>C (p.Ser673Thr) n.3166G>C c.278G>C (p.Ser93Thr) n.2797G>C | |
1 | g.235806521C>T | CA1467246 | LYST | c.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 |
1 | g.235806522T>A | CA344956364 | LYST | c.2614A>T (p.Ser872Cys) c.2017A>T (p.Ser673Cys) n.3165A>T c.277A>T (p.Ser93Cys) n.2796A>T | |
1 | g.235806522T>C | CA344956368 | LYST | c.2614A>G (p.Ser872Gly) c.2017A>G (p.Ser673Gly) n.3165A>G c.277A>G (p.Ser93Gly) n.2796A>G | gnomAD v4 |
1 | g.235806522T>G | CA344956370 | LYST | c.2614A>C (p.Ser872Arg) c.2017A>C (p.Ser673Arg) n.3165A>C c.277A>C (p.Ser93Arg) n.2796A>C | |
1 | g.235806523G>A | CA424027302 | LYST | c.2613C>T (p.Leu871=) c.2016C>T (p.Leu672=) n.3164C>T c.276C>T (p.Leu92=) n.2795C>T | COSMIC |
1 | g.235806523G>C | CA424027303 | LYST | c.2613C>G (p.Leu871=) c.2016C>G (p.Leu672=) n.3164C>G c.276C>G (p.Leu92=) n.2795C>G | |
1 | g.235806523G>T | CA424027304 | LYST | c.2613C>A (p.Leu871=) c.2016C>A (p.Leu672=) n.3164C>A c.276C>A (p.Leu92=) n.2795C>A | |
1 | g.235806524A>C | CA344956376 | LYST | c.2612T>G (p.Leu871Arg) c.2015T>G (p.Leu672Arg) n.3163T>G c.275T>G (p.Leu92Arg) n.2794T>G | |
1 | g.235806524A>G | CA344956380 | LYST | c.2612T>C (p.Leu871Pro) c.2015T>C (p.Leu672Pro) n.3163T>C c.275T>C (p.Leu92Pro) n.2794T>C | |
1 | g.235806524A>T | CA344956382 | LYST | c.2612T>A (p.Leu871His) c.2015T>A (p.Leu672His) n.3163T>A c.275T>A (p.Leu92His) n.2794T>A | |
1 | g.235806525G>A | CA344956386 | LYST | c.2611C>T (p.Leu871Phe) c.2014C>T (p.Leu672Phe) n.3162C>T c.274C>T (p.Leu92Phe) n.2793C>T | |
1 | g.235806525G>C | CA344956388 | LYST | c.2611C>G (p.Leu871Val) c.2014C>G (p.Leu672Val) n.3162C>G c.274C>G (p.Leu92Val) n.2793C>G | |
1 | g.235806525G>T | CA344956392 | LYST | c.2611C>A (p.Leu871Ile) c.2014C>A (p.Leu672Ile) n.3162C>A c.274C>A (p.Leu92Ile) n.2793C>A | |
1 | g.235806526A= | CA2486650214 | LYST | c.2610T= (p.Ser870=) c.2013T= (p.Ser671=) n.3161T= c.273T= (p.Ser91=) n.2792T= | |
1 | g.235806526A>C | CA344956397 | LYST | c.2610T>G (p.Ser870Arg) c.2013T>G (p.Ser671Arg) n.3161T>G c.273T>G (p.Ser91Arg) n.2792T>G | |
1 | g.235806526A>G | CA39616352 | LYST | c.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 |
1 | g.235806526A>T | CA344956400 | LYST | c.2610T>A (p.Ser870Arg) c.2013T>A (p.Ser671Arg) n.3161T>A c.273T>A (p.Ser91Arg) n.2792T>A | |
1 | g.235806527C>A | CA344956413 | LYST | c.2609G>T (p.Ser870Ile) c.2012G>T (p.Ser671Ile) n.3160G>T c.272G>T (p.Ser91Ile) n.2791G>T | |
1 | g.235806527C= | CA2486650215 | LYST | c.2609G= (p.Ser870=) c.2012G= (p.Ser671=) n.3160G= c.272G= (p.Ser91=) n.2791G= | |
1 | g.235806527C>G | CA344956409 | LYST | c.2609G>C (p.Ser870Thr) c.2012G>C (p.Ser671Thr) n.3160G>C c.272G>C (p.Ser91Thr) n.2791G>C | |
1 | g.235806527C>T | CA1467247 | LYST | c.2609G>A (p.Ser870Asn) c.2012G>A (p.Ser671Asn) n.3160G>A c.272G>A (p.Ser91Asn) n.2791G>A | dbSNP ExAC gnomAD v2 |
1 | g.235806528T>A | CA344956419 | LYST | c.2608A>T (p.Ser870Cys) c.2011A>T (p.Ser671Cys) n.3159A>T c.271A>T (p.Ser91Cys) n.2790A>T | |
1 | g.235806528T>C | CA344956421 | LYST | c.2608A>G (p.Ser870Gly) c.2011A>G (p.Ser671Gly) n.3159A>G c.271A>G (p.Ser91Gly) n.2790A>G | |
1 | g.235806528T>G | CA344956424 | LYST | c.2608A>C (p.Ser870Arg) c.2011A>C (p.Ser671Arg) n.3159A>C c.271A>C (p.Ser91Arg) n.2790A>C | |
1 | g.235806529C>A | CA344956427 | LYST | c.2607G>T (p.Gln869His) c.2010G>T (p.Gln670His) n.3158G>T c.270G>T (p.Gln90His) n.2789G>T | |
1 | g.235806529C= | CA2486650216 | LYST | c.2607G= (p.Gln869=) c.2010G= (p.Gln670=) n.3158G= c.270G= (p.Gln90=) n.2789G= | |
1 | g.235806529C>G | CA344956432 | LYST | c.2607G>C (p.Gln869His) c.2010G>C (p.Gln670His) n.3158G>C c.270G>C (p.Gln90His) n.2789G>C | dbSNP gnomAD v2 |
1 | g.235806529C>T | CA424027312 | LYST | c.2607G>A (p.Gln869=) c.2010G>A (p.Gln670=) n.3158G>A c.270G>A (p.Gln90=) n.2789G>A | |
1 | g.235806530T>A | CA344956435 | LYST | c.2606A>T (p.Gln869Leu) c.2009A>T (p.Gln670Leu) n.3157A>T c.269A>T (p.Gln90Leu) n.2788A>T | |
1 | g.235806530T>C | CA344956437 | LYST | c.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 |
1 | g.235806530T>G | CA344956440 | LYST | c.2606A>C (p.Gln869Pro) c.2009A>C (p.Gln670Pro) n.3157A>C c.269A>C (p.Gln90Pro) n.2788A>C | |
1 | g.235806530T= | CA2486650217 | LYST | c.2606A= (p.Gln869=) c.2009A= (p.Gln670=) n.3157A= c.269A= (p.Gln90=) n.2788A= | |
1 | g.235806531G>A | CA344956443 | LYST | c.2605C>T (p.Gln869Ter) c.2008C>T (p.Gln670Ter) n.3156C>T c.268C>T (p.Gln90Ter) n.2787C>T | |
1 | g.235806531G>C | CA344956445 | LYST | c.2605C>G (p.Gln869Glu) c.2008C>G (p.Gln670Glu) n.3156C>G c.268C>G (p.Gln90Glu) n.2787C>G | |
1 | g.235806531G>T | CA344956447 | LYST | c.2605C>A (p.Gln869Lys) c.2008C>A (p.Gln670Lys) n.3156C>A c.268C>A (p.Gln90Lys) n.2787C>A | |
1 | g.235806532A>C | CA424027317 | LYST | c.2604T>G (p.Pro868=) c.2007T>G (p.Pro669=) n.3155T>G c.267T>G (p.Pro89=) n.2786T>G | |
1 | g.235806532A>G | CA424027318 | LYST | c.2604T>C (p.Pro868=) c.2007T>C (p.Pro669=) n.3155T>C c.267T>C (p.Pro89=) n.2786T>C | |
1 | g.235806532A>T | CA424027319 | LYST | c.2604T>A (p.Pro868=) c.2007T>A (p.Pro669=) n.3155T>A c.267T>A (p.Pro89=) n.2786T>A | |
1 | g.235806533G>A | CA344956449 | LYST | c.2603C>T (p.Pro868Leu) c.2006C>T (p.Pro669Leu) n.3154C>T c.266C>T (p.Pro89Leu) n.2785C>T | |
1 | g.235806533G>C | CA344956451 | LYST | c.2603C>G (p.Pro868Arg) c.2006C>G (p.Pro669Arg) n.3154C>G c.266C>G (p.Pro89Arg) n.2785C>G | |
1 | g.235806533G>T | CA344956453 | LYST | c.2603C>A (p.Pro868His) c.2006C>A (p.Pro669His) n.3154C>A c.266C>A (p.Pro89His) n.2785C>A | |
1 | g.235806534G>A | CA344956458 | LYST | c.2602C>T (p.Pro868Ser) c.2005C>T (p.Pro669Ser) n.3153C>T c.265C>T (p.Pro89Ser) n.2784C>T | gnomAD v4 |
1 | g.235806534G>C | CA344956460 | LYST | c.2602C>G (p.Pro868Ala) c.2005C>G (p.Pro669Ala) n.3153C>G c.265C>G (p.Pro89Ala) n.2784C>G | |
1 | g.235806534G>T | CA344956457 | LYST | c.2602C>A (p.Pro868Thr) c.2005C>A (p.Pro669Thr) n.3153C>A c.265C>A (p.Pro89Thr) n.2784C>A | |
1 | g.235806535A>C | CA424027324 | LYST | c.2601T>G (p.Ser867=) c.2004T>G (p.Ser668=) n.3152T>G c.264T>G (p.Ser88=) n.2783T>G | |
1 | g.235806535A>G | CA424027326 | LYST | c.2601T>C (p.Ser867=) c.2004T>C (p.Ser668=) n.3152T>C c.264T>C (p.Ser88=) n.2783T>C | |
1 | g.235806535A>T | CA424027325 | LYST | c.2601T>A (p.Ser867=) c.2004T>A (p.Ser668=) n.3152T>A c.264T>A (p.Ser88=) n.2783T>A | |
1 | g.235806536G>A | CA344956464 | LYST | c.2600C>T (p.Ser867Phe) c.2003C>T (p.Ser668Phe) n.3151C>T c.263C>T (p.Ser88Phe) n.2782C>T | |
1 | g.235806536G>C | CA344956467 | LYST | c.2600C>G (p.Ser867Cys) c.2003C>G (p.Ser668Cys) n.3151C>G c.263C>G (p.Ser88Cys) n.2782C>G | ClinVar |
1 | g.235806536G>T | CA344956469 | LYST | c.2600C>A (p.Ser867Tyr) c.2003C>A (p.Ser668Tyr) n.3151C>A c.263C>A (p.Ser88Tyr) n.2782C>A | |
1 | g.235806537A= | CA1149135833 | LYST | c.2599T= (p.Ser867=) c.2002T= (p.Ser668=) n.3150T= c.262T= (p.Ser88=) n.2781T= | |
1 | g.235806537A>C | CA344956473 | LYST | c.2599T>G (p.Ser867Ala) c.2002T>G (p.Ser668Ala) n.3150T>G c.262T>G (p.Ser88Ala) n.2781T>G | |
1 | g.235806537A>G | CA344956475 | LYST | c.2599T>C (p.Ser867Pro) c.2002T>C (p.Ser668Pro) n.3150T>C c.262T>C (p.Ser88Pro) n.2781T>C | |
1 | g.235806537A>T | CA1467248 | LYST | c.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 |
1 | g.235806538A>C | CA344956483 | LYST | c.2598T>G (p.Asp866Glu) c.2001T>G (p.Asp667Glu) n.3149T>G c.261T>G (p.Asp87Glu) n.2780T>G | |
1 | g.235806538A>G | CA424027330 | LYST | c.2598T>C (p.Asp866=) c.2001T>C (p.Asp667=) n.3149T>C c.261T>C (p.Asp87=) n.2780T>C | |
1 | g.235806538A>T | CA344956481 | LYST | c.2598T>A (p.Asp866Glu) c.2001T>A (p.Asp667Glu) n.3149T>A c.261T>A (p.Asp87Glu) n.2780T>A | |
1 | g.235806539T>A | CA344956487 | LYST | c.2597A>T (p.Asp866Val) c.2000A>T (p.Asp667Val) n.3148A>T c.260A>T (p.Asp87Val) n.2779A>T | |
1 | g.235806539T>C | CA344956489 | LYST | c.2597A>G (p.Asp866Gly) c.2000A>G (p.Asp667Gly) n.3148A>G c.260A>G (p.Asp87Gly) n.2779A>G | |
1 | g.235806539T>G | CA344956491 | LYST | c.2597A>C (p.Asp866Ala) c.2000A>C (p.Asp667Ala) n.3148A>C c.260A>C (p.Asp87Ala) n.2779A>C | |
1 | g.235806540C>A | CA344956494 | LYST | c.2596G>T (p.Asp866Tyr) c.1999G>T (p.Asp667Tyr) n.3147G>T c.259G>T (p.Asp87Tyr) n.2778G>T | |
1 | g.235806540C>G | CA344956499 | LYST | c.2596G>C (p.Asp866His) c.1999G>C (p.Asp667His) n.3147G>C c.259G>C (p.Asp87His) n.2778G>C | |
1 | g.235806540C>T | CA344956501 | LYST | c.2596G>A (p.Asp866Asn) c.1999G>A (p.Asp667Asn) n.3147G>A c.259G>A (p.Asp87Asn) n.2778G>A | |
1 | g.235806541T>A | CA424027336 | LYST | c.2595A>T (p.Ser865=) c.1998A>T (p.Ser666=) n.3146A>T c.258A>T (p.Ser86=) n.2777A>T | |
1 | g.235806541T>C | CA424027337 | LYST | c.2595A>G (p.Ser865=) c.1998A>G (p.Ser666=) n.3146A>G c.258A>G (p.Ser86=) n.2777A>G | |
1 | g.235806541T>G | CA424027338 | LYST | c.2595A>C (p.Ser865=) c.1998A>C (p.Ser666=) n.3146A>C c.258A>C (p.Ser86=) n.2777A>C | |
1 | g.235806542G>A | CA344956505 | LYST | c.2594C>T (p.Ser865Leu) c.1997C>T (p.Ser666Leu) n.3145C>T c.257C>T (p.Ser86Leu) n.2776C>T | gnomAD v4 |
1 | g.235806542G>C | CA344956509 | LYST | c.2594C>G (p.Ser865Ter) c.1997C>G (p.Ser666Ter) n.3145C>G c.257C>G (p.Ser86Ter) n.2776C>G | |
1 | g.235806542G>T | CA344956507 | LYST | c.2594C>A (p.Ser865Ter) c.1997C>A (p.Ser666Ter) n.3145C>A c.257C>A (p.Ser86Ter) n.2776C>A | |
1 | g.235806543A>C | CA344956512 | LYST | c.2593T>G (p.Ser865Ala) c.1996T>G (p.Ser666Ala) n.3144T>G c.256T>G (p.Ser86Ala) n.2775T>G | |
1 | g.235806543A>G | CA344956515 | LYST | c.2593T>C (p.Ser865Pro) c.1996T>C (p.Ser666Pro) n.3144T>C c.256T>C (p.Ser86Pro) n.2775T>C | |
1 | g.235806543A>T | CA344956517 | LYST | c.2593T>A (p.Ser865Thr) c.1996T>A (p.Ser666Thr) n.3144T>A c.256T>A (p.Ser86Thr) n.2775T>A | |
1 | g.235806544A>C | CA344956520 | LYST | c.2592T>G (p.Tyr864Ter) c.1995T>G (p.Tyr665Ter) n.3143T>G c.255T>G (p.Tyr85Ter) n.2774T>G | |
1 | g.235806544A>G | CA424027343 | LYST | c.2592T>C (p.Tyr864=) c.1995T>C (p.Tyr665=) n.3143T>C c.255T>C (p.Tyr85=) n.2774T>C | |
1 | g.235806544A>T | CA344956522 | LYST | c.2592T>A (p.Tyr864Ter) c.1995T>A (p.Tyr665Ter) n.3143T>A c.255T>A (p.Tyr85Ter) n.2774T>A | |
1 | g.235806545T>A | CA344956526 | LYST | c.2591A>T (p.Tyr864Phe) c.1994A>T (p.Tyr665Phe) n.3142A>T c.254A>T (p.Tyr85Phe) n.2773A>T | |
1 | g.235806545T>C | CA344956528 | LYST | c.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 |
1 | g.235806545T>G | CA344956531 | LYST | c.2591A>C (p.Tyr864Ser) c.1994A>C (p.Tyr665Ser) n.3142A>C c.254A>C (p.Tyr85Ser) n.2773A>C | |
1 | g.235806545T= | CA2486650218 | LYST | c.2591A= (p.Tyr864=) c.1994A= (p.Tyr665=) n.3142A= c.254A= (p.Tyr85=) n.2773A= | |
1 | g.235806546A>C | CA344956535 | LYST | c.2590T>G (p.Tyr864Asp) c.1993T>G (p.Tyr665Asp) n.3141T>G c.253T>G (p.Tyr85Asp) n.2772T>G | |
1 | g.235806546A>G | CA344956537 | LYST | c.2590T>C (p.Tyr864His) c.1993T>C (p.Tyr665His) n.3141T>C c.253T>C (p.Tyr85His) n.2772T>C | |
1 | g.235806546A>T | CA344956539 | LYST | c.2590T>A (p.Tyr864Asn) c.1993T>A (p.Tyr665Asn) n.3141T>A c.253T>A (p.Tyr85Asn) n.2772T>A | |
1 | g.235806547A>C | CA424027347 | LYST | c.2589T>G (p.Ala863=) c.1992T>G (p.Ala664=) n.3140T>G c.252T>G (p.Ala84=) n.2771T>G | |
1 | g.235806547A>G | CA424027348 | LYST | c.2589T>C (p.Ala863=) c.1992T>C (p.Ala664=) n.3140T>C c.252T>C (p.Ala84=) n.2771T>C | |
1 | g.235806547A>T | CA424027349 | LYST | c.2589T>A (p.Ala863=) c.1992T>A (p.Ala664=) n.3140T>A c.252T>A (p.Ala84=) n.2771T>A | |
1 | g.235806548G>A | CA344956542 | LYST | c.2588C>T (p.Ala863Val) c.1991C>T (p.Ala664Val) n.3139C>T c.251C>T (p.Ala84Val) n.2770C>T | gnomAD v4 |
1 | g.235806548G>C | CA344956546 | LYST | c.2588C>G (p.Ala863Gly) c.1991C>G (p.Ala664Gly) n.3139C>G c.251C>G (p.Ala84Gly) n.2770C>G | |
1 | g.235806548G>T | CA344956544 | LYST | c.2588C>A (p.Ala863Asp) c.1991C>A (p.Ala664Asp) n.3139C>A c.251C>A (p.Ala84Asp) n.2770C>A | |
1 | g.235806549C>A | CA344956548 | LYST | c.2587G>T (p.Ala863Ser) c.1990G>T (p.Ala664Ser) n.3138G>T c.250G>T (p.Ala84Ser) n.2769G>T | |
1 | g.235806549C>G | CA344956550 | LYST | c.2587G>C (p.Ala863Pro) c.1990G>C (p.Ala664Pro) n.3138G>C c.250G>C (p.Ala84Pro) n.2769G>C | |
1 | g.235806549C>T | CA344956549 | LYST | c.2587G>A (p.Ala863Thr) c.1990G>A (p.Ala664Thr) n.3138G>A c.250G>A (p.Ala84Thr) n.2769G>A | gnomAD v4 |
1 | g.235806550T>A | CA344956551 | LYST | c.2586A>T (p.Gln862His) c.1989A>T (p.Gln663His) n.3137A>T c.249A>T (p.Gln83His) n.2768A>T | |
1 | g.235806550T>C | CA424027353 | LYST | c.2586A>G (p.Gln862=) c.1989A>G (p.Gln663=) n.3137A>G c.249A>G (p.Gln83=) n.2768A>G | |
1 | g.235806550T>G | CA344956553 | LYST | c.2586A>C (p.Gln862His) c.1989A>C (p.Gln663His) n.3137A>C c.249A>C (p.Gln83His) n.2768A>C | |
1 | g.235806551T>A | CA344956556 | LYST | c.2585A>T (p.Gln862Leu) c.1988A>T (p.Gln663Leu) n.3136A>T c.248A>T (p.Gln83Leu) n.2767A>T | |
1 | g.235806551T>C | CA344956557 | LYST | c.2585A>G (p.Gln862Arg) c.1988A>G (p.Gln663Arg) n.3136A>G c.248A>G (p.Gln83Arg) n.2767A>G | dbSNP gnomAD v4 |
1 | g.235806551T>G | CA344956558 | LYST | c.2585A>C (p.Gln862Pro) c.1988A>C (p.Gln663Pro) n.3136A>C c.248A>C (p.Gln83Pro) n.2767A>C | |
1 | g.235806551T= | CA2486650219 | LYST | c.2585A= (p.Gln862=) c.1988A= (p.Gln663=) n.3136A= c.248A= (p.Gln83=) n.2767A= | |
1 | g.235806552G>A | CA344956559 | LYST | c.2584C>T (p.Gln862Ter) c.1987C>T (p.Gln663Ter) n.3135C>T c.247C>T (p.Gln83Ter) n.2766C>T | |
1 | g.235806552G>C | CA344956560 | LYST | c.2584C>G (p.Gln862Glu) c.1987C>G (p.Gln663Glu) n.3135C>G c.247C>G (p.Gln83Glu) n.2766C>G | |
1 | g.235806552G>T | CA344956561 | LYST | c.2584C>A (p.Gln862Lys) c.1987C>A (p.Gln663Lys) n.3135C>A c.247C>A (p.Gln83Lys) n.2766C>A | |
1 | g.235806553C>A | CA344956563 | LYST | c.2583G>T (p.Gln861His) c.1986G>T (p.Gln662His) n.3134G>T c.246G>T (p.Gln82His) n.2765G>T | |
1 | g.235806553C>G | CA344956565 | LYST | c.2583G>C (p.Gln861His) c.1986G>C (p.Gln662His) n.3134G>C c.246G>C (p.Gln82His) n.2765G>C | |
1 | g.235806553C>T | CA424027358 | LYST | c.2583G>A (p.Gln861=) c.1986G>A (p.Gln662=) n.3134G>A c.246G>A (p.Gln82=) n.2765G>A | ClinVar gnomAD v4 |
1 | g.235806554T>A | CA344956569 | LYST | c.2582A>T (p.Gln861Leu) c.1985A>T (p.Gln662Leu) n.3133A>T c.245A>T (p.Gln82Leu) n.2764A>T | |
1 | g.235806554T>C | CA344956572 | LYST | c.2582A>G (p.Gln861Arg) c.1985A>G (p.Gln662Arg) n.3133A>G c.245A>G (p.Gln82Arg) n.2764A>G | |
1 | g.235806554T>G | CA344956573 | LYST | c.2582A>C (p.Gln861Pro) c.1985A>C (p.Gln662Pro) n.3133A>C c.245A>C (p.Gln82Pro) n.2764A>C | |
1 | g.235806555G>A | CA344956575 | LYST | c.2581C>T (p.Gln861Ter) c.1984C>T (p.Gln662Ter) n.3132C>T c.244C>T (p.Gln82Ter) n.2763C>T | |
1 | g.235806555G>C | CA344956577 | LYST | c.2581C>G (p.Gln861Glu) c.1984C>G (p.Gln662Glu) n.3132C>G c.244C>G (p.Gln82Glu) n.2763C>G | |
1 | g.235806555G>T | CA344956576 | LYST | c.2581C>A (p.Gln861Lys) c.1984C>A (p.Gln662Lys) n.3132C>A c.244C>A (p.Gln82Lys) n.2763C>A | |
1 | g.235806556A= | CA2486650220 | LYST | c.2580T= (p.His860=) c.1983T= (p.His661=) n.3131T= c.243T= (p.His81=) n.2762T= | |
1 | g.235806556A>C | CA344956578 | LYST | c.2580T>G (p.His860Gln) c.1983T>G (p.His661Gln) n.3131T>G c.243T>G (p.His81Gln) n.2762T>G | gnomAD v4 |
1 | g.235806556A>G | CA424027368 | LYST | c.2580T>C (p.His860=) c.1983T>C (p.His661=) n.3131T>C c.243T>C (p.His81=) n.2762T>C | gnomAD v4 |
1 | g.235806556A>T | CA1467249 | LYST | c.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 |
1 | g.235806557T>A | CA344956579 | LYST | c.2579A>T (p.His860Leu) c.1982A>T (p.His661Leu) n.3130A>T c.242A>T (p.His81Leu) n.2761A>T | |
1 | g.235806557T>C | CA344956580 | LYST | c.2579A>G (p.His860Arg) c.1982A>G (p.His661Arg) n.3130A>G c.242A>G (p.His81Arg) n.2761A>G | |
1 | g.235806557T>G | CA344956581 | LYST | c.2579A>C (p.His860Pro) c.1982A>C (p.His661Pro) n.3130A>C c.242A>C (p.His81Pro) n.2761A>C | |
1 | g.235806558G>A | CA344956582 | LYST | c.2578C>T (p.His860Tyr) c.1981C>T (p.His661Tyr) n.3129C>T c.241C>T (p.His81Tyr) n.2760C>T | dbSNP gnomAD v4 |
1 | g.235806558G>C | CA344956584 | LYST | c.2578C>G (p.His860Asp) c.1981C>G (p.His661Asp) n.3129C>G c.241C>G (p.His81Asp) n.2760C>G | |
1 | g.235806558G= | CA2486650221 | LYST | c.2578C= (p.His860=) c.1981C= (p.His661=) n.3129C= c.241C= (p.His81=) n.2760C= | |
1 | g.235806558G>T | CA344956586 | LYST | c.2578C>A (p.His860Asn) c.1981C>A (p.His661Asn) n.3129C>A c.241C>A (p.His81Asn) n.2760C>A | |
1 | g.235806559A>C | CA344956588 | LYST | c.2577T>G (p.His859Gln) c.1980T>G (p.His660Gln) n.3128T>G c.240T>G (p.His80Gln) n.2759T>G | |
1 | g.235806559A>G | CA424027373 | LYST | c.2577T>C (p.His859=) c.1980T>C (p.His660=) n.3128T>C c.240T>C (p.His80=) n.2759T>C | |
1 | g.235806559A>T | CA344956589 | LYST | c.2577T>A (p.His859Gln) c.1980T>A (p.His660Gln) n.3128T>A c.240T>A (p.His80Gln) n.2759T>A | |
1 | g.235806560T>A | CA1467250 | LYST | c.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 |
1 | g.235806560T>C | CA344956595 | LYST | c.2576A>G (p.His859Arg) c.1979A>G (p.His660Arg) n.3127A>G c.239A>G (p.His80Arg) n.2758A>G | dbSNP |
1 | g.235806560T>G | CA344956593 | LYST | c.2576A>C (p.His859Pro) c.1979A>C (p.His660Pro) n.3127A>C c.239A>C (p.His80Pro) n.2758A>C | |
1 | g.235806560T= | CA2486650222 | LYST | c.2576A= (p.His859=) c.1979A= (p.His660=) n.3127A= c.239A= (p.His80=) n.2758A= | |
1 | g.235806561G>A | CA344956602 | LYST | c.2575C>T (p.His859Tyr) c.1978C>T (p.His660Tyr) n.3126C>T c.238C>T (p.His80Tyr) n.2757C>T | gnomAD v4 |
1 | g.235806561G>C | CA344956599 | LYST | c.2575C>G (p.His859Asp) c.1978C>G (p.His660Asp) n.3126C>G c.238C>G (p.His80Asp) n.2757C>G | |
1 | g.235806561G>T | CA344956601 | LYST | c.2575C>A (p.His859Asn) c.1978C>A (p.His660Asn) n.3126C>A c.238C>A (p.His80Asn) n.2757C>A | |
1 | g.235806562A>C | CA344956605 | LYST | c.2574T>G (p.Phe858Leu) c.1977T>G (p.Phe659Leu) n.3125T>G c.237T>G (p.Phe79Leu) n.2756T>G | |
1 | g.235806562A>G | CA424027378 | LYST | c.2574T>C (p.Phe858=) c.1977T>C (p.Phe659=) n.3125T>C c.237T>C (p.Phe79=) n.2756T>C | |
1 | g.235806562A>T | CA344956607 | LYST | c.2574T>A (p.Phe858Leu) c.1977T>A (p.Phe659Leu) n.3125T>A c.237T>A (p.Phe79Leu) n.2756T>A | |
1 | g.235806563A>C | CA344956609 | LYST | c.2573T>G (p.Phe858Cys) c.1976T>G (p.Phe659Cys) n.3124T>G c.236T>G (p.Phe79Cys) n.2755T>G | gnomAD v4 |
1 | g.235806563A>G | CA344956611 | LYST | c.2573T>C (p.Phe858Ser) c.1976T>C (p.Phe659Ser) n.3124T>C c.236T>C (p.Phe79Ser) n.2755T>C | |
1 | g.235806563A>T | CA344956612 | LYST | c.2573T>A (p.Phe858Tyr) c.1976T>A (p.Phe659Tyr) n.3124T>A c.236T>A (p.Phe79Tyr) n.2755T>A | |
1 | g.235806564A>C | CA344956615 | LYST | c.2572T>G (p.Phe858Val) c.1975T>G (p.Phe659Val) n.3123T>G c.235T>G (p.Phe79Val) n.2754T>G | |
1 | g.235806564A>G | CA344956617 | LYST | c.2572T>C (p.Phe858Leu) c.1975T>C (p.Phe659Leu) n.3123T>C c.235T>C (p.Phe79Leu) n.2754T>C | |
1 | g.235806564A>T | CA344956618 | LYST | c.2572T>A (p.Phe858Ile) c.1975T>A (p.Phe659Ile) n.3123T>A c.235T>A (p.Phe79Ile) n.2754T>A | |
1 | g.235806565A>C | CA424027380 | LYST | c.2571T>G (p.Ser857=) c.1974T>G (p.Ser658=) n.3122T>G c.234T>G (p.Ser78=) n.2753T>G | |
1 | g.235806565A>G | CA424027381 | LYST | c.2571T>C (p.Ser857=) c.1974T>C (p.Ser658=) n.3122T>C c.234T>C (p.Ser78=) n.2753T>C | |
1 | g.235806565A>T | CA424027382 | LYST | c.2571T>A (p.Ser857=) c.1974T>A (p.Ser658=) n.3122T>A c.234T>A (p.Ser78=) n.2753T>A | |
1 | g.235806566G>A | CA344956621 | LYST | c.2570C>T (p.Ser857Phe) c.1973C>T (p.Ser658Phe) n.3121C>T c.233C>T (p.Ser78Phe) n.2752C>T | |
1 | g.235806566G>C | CA1467251 | LYST | c.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 |
1 | g.235806566G= | CA1141980344 | LYST | c.2570C= (p.Ser857=) c.1973C= (p.Ser658=) n.3121C= c.233C= (p.Ser78=) n.2752C= | |
1 | g.235806566G>T | CA344956623 | LYST | c.2570C>A (p.Ser857Tyr) c.1973C>A (p.Ser658Tyr) n.3121C>A c.233C>A (p.Ser78Tyr) n.2752C>A | COSMIC |
1 | g.235806567A>C | CA344956630 | LYST | c.2569T>G (p.Ser857Ala) c.1972T>G (p.Ser658Ala) n.3120T>G c.232T>G (p.Ser78Ala) n.2751T>G | |
1 | g.235806567A>G | CA344956626 | LYST | c.2569T>C (p.Ser857Pro) c.1972T>C (p.Ser658Pro) n.3120T>C c.232T>C (p.Ser78Pro) n.2751T>C | |
1 | g.235806567A>T | CA344956628 | LYST | c.2569T>A (p.Ser857Thr) c.1972T>A (p.Ser658Thr) n.3120T>A c.232T>A (p.Ser78Thr) n.2751T>A | |
1 | g.235806568A>C | CA424027388 | LYST | c.2568T>G (p.Thr856=) c.1971T>G (p.Thr657=) n.3119T>G c.231T>G (p.Thr77=) n.2750T>G | ClinVar |
1 | g.235806568A>G | CA424027390 | LYST | c.2568T>C (p.Thr856=) c.1971T>C (p.Thr657=) n.3119T>C c.231T>C (p.Thr77=) n.2750T>C | |
1 | g.235806568A>T | CA424027391 | LYST | c.2568T>A (p.Thr856=) c.1971T>A (p.Thr657=) n.3119T>A c.231T>A (p.Thr77=) n.2750T>A | |
1 | g.235806569G>A | CA344956633 | LYST | c.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 |
1 | g.235806569G>C | CA344956634 | LYST | c.2567C>G (p.Thr856Ser) c.1970C>G (p.Thr657Ser) n.3118C>G c.230C>G (p.Thr77Ser) n.2749C>G | |
1 | g.235806569G= | CA2486650223 | LYST | c.2567C= (p.Thr856=) c.1970C= (p.Thr657=) n.3118C= c.230C= (p.Thr77=) n.2749C= | |
1 | g.235806569G>T | CA344956636 | LYST | c.2567C>A (p.Thr856Asn) c.1970C>A (p.Thr657Asn) n.3118C>A c.230C>A (p.Thr77Asn) n.2749C>A | gnomAD v4 |
1 | g.235806570T>A | CA344956639 | LYST | c.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 |
1 | g.235806570T>C | CA344956641 | LYST | c.2566A>G (p.Thr856Ala) c.1969A>G (p.Thr657Ala) n.3117A>G c.229A>G (p.Thr77Ala) n.2748A>G | |
1 | g.235806570T>G | CA344956643 | LYST | c.2566A>C (p.Thr856Pro) c.1969A>C (p.Thr657Pro) n.3117A>C c.229A>C (p.Thr77Pro) n.2748A>C | |
1 | g.235806570T= | CA2486650224 | LYST | c.2566A= (p.Thr856=) c.1969A= (p.Thr657=) n.3117A= c.229A= (p.Thr77=) n.2748A= | |
1 | g.235806571A= | CA2486650225 | LYST | c.2565T= (p.Gly855=) c.1968T= (p.Gly656=) n.3116T= c.228T= (p.Gly76=) n.2747T= | |
1 | g.235806571A>C | CA424027394 | LYST | c.2565T>G (p.Gly855=) c.1968T>G (p.Gly656=) n.3116T>G c.228T>G (p.Gly76=) n.2747T>G | |
1 | g.235806571A>G | CA424027395 | LYST | c.2565T>C (p.Gly855=) c.1968T>C (p.Gly656=) n.3116T>C c.228T>C (p.Gly76=) n.2747T>C | |
1 | g.235806571A>T | CA1467252 | LYST | c.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 |
1 | g.235806572C>A | CA344956647 | LYST | c.2564G>T (p.Gly855Val) c.1967G>T (p.Gly656Val) n.3115G>T c.227G>T (p.Gly76Val) n.2746G>T | dbSNP |
1 | g.235806572C= | CA2486650226 | LYST | c.2564G= (p.Gly855=) c.1967G= (p.Gly656=) n.3115G= c.227G= (p.Gly76=) n.2746G= | |
1 | g.235806572C>G | CA344956649 | LYST | c.2564G>C (p.Gly855Ala) c.1967G>C (p.Gly656Ala) n.3115G>C c.227G>C (p.Gly76Ala) n.2746G>C | |
1 | g.235806572C>T | CA344956651 | LYST | c.2564G>A (p.Gly855Asp) c.1967G>A (p.Gly656Asp) n.3115G>A c.227G>A (p.Gly76Asp) n.2746G>A | dbSNP gnomAD v4 |
1 | g.235806573C>A | CA344956653 | LYST | c.2563G>T (p.Gly855Cys) c.1966G>T (p.Gly656Cys) n.3114G>T c.226G>T (p.Gly76Cys) n.2745G>T | |
1 | g.235806573C>G | CA344956655 | LYST | c.2563G>C (p.Gly855Arg) c.1966G>C (p.Gly656Arg) n.3114G>C c.226G>C (p.Gly76Arg) n.2745G>C | |
1 | g.235806573C>T | CA344956657 | LYST | c.2563G>A (p.Gly855Ser) c.1966G>A (p.Gly656Ser) n.3114G>A c.226G>A (p.Gly76Ser) n.2745G>A | ClinVar |
1 | g.235806574C>A | CA424027399 | LYST | c.2562G>T (p.Val854=) c.1965G>T (p.Val655=) n.3113G>T c.225G>T (p.Val75=) n.2744G>T | |
1 | g.235806574C>G | CA424027401 | LYST | c.2562G>C (p.Val854=) c.1965G>C (p.Val655=) n.3113G>C c.225G>C (p.Val75=) n.2744G>C | |
1 | g.235806574C>T | CA424027402 | LYST | c.2562G>A (p.Val854=) c.1965G>A (p.Val655=) n.3113G>A c.225G>A (p.Val75=) n.2744G>A | |
1 | g.235806575A>C | CA344956661 | LYST | c.2561T>G (p.Val854Gly) c.1964T>G (p.Val655Gly) n.3112T>G c.224T>G (p.Val75Gly) n.2743T>G | |
1 | g.235806575A>G | CA344956664 | LYST | c.2561T>C (p.Val854Ala) c.1964T>C (p.Val655Ala) n.3112T>C c.224T>C (p.Val75Ala) n.2743T>C | |
1 | g.235806575A>T | CA344956660 | LYST | c.2561T>A (p.Val854Glu) c.1964T>A (p.Val655Glu) n.3112T>A c.224T>A (p.Val75Glu) n.2743T>A | |
1 | g.235806576C>A | CA344956665 | LYST | c.2560G>T (p.Val854Leu) c.1963G>T (p.Val655Leu) n.3111G>T c.223G>T (p.Val75Leu) n.2742G>T | |
1 | g.235806576C= | CA2486650227 | LYST | c.2560G= (p.Val854=) c.1963G= (p.Val655=) n.3111G= c.223G= (p.Val75=) n.2742G= | |
1 | g.235806576C>G | CA344956668 | LYST | c.2560G>C (p.Val854Leu) c.1963G>C (p.Val655Leu) n.3111G>C c.223G>C (p.Val75Leu) n.2742G>C | |
1 | g.235806576C>T | CA344956666 | LYST | c.2560G>A (p.Val854Met) c.1963G>A (p.Val655Met) n.3111G>A c.223G>A (p.Val75Met) n.2742G>A | dbSNP gnomAD v2 |
1 | g.235806577A= | CA2486650228 | LYST | c.2559T= (p.His853=) c.1962T= (p.His654=) n.3110T= c.222T= (p.His74=) n.2741T= | |
1 | g.235806577A>C | CA344956670 | LYST | c.2559T>G (p.His853Gln) c.1962T>G (p.His654Gln) n.3110T>G c.222T>G (p.His74Gln) n.2741T>G | |
1 | g.235806577A>G | CA424027407 | LYST | c.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 |
1 | g.235806577A>T | CA344956672 | LYST | c.2559T>A (p.His853Gln) c.1962T>A (p.His654Gln) n.3110T>A c.222T>A (p.His74Gln) n.2741T>A | |
1 | g.235806578T>A | CA344956674 | LYST | c.2558A>T (p.His853Leu) c.1961A>T (p.His654Leu) n.3109A>T c.221A>T (p.His74Leu) n.2740A>T | |
1 | g.235806578T>C | CA1467253 | LYST | c.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 |
1 | g.235806578T>G | CA344956678 | LYST | c.2558A>C (p.His853Pro) c.1961A>C (p.His654Pro) n.3109A>C c.221A>C (p.His74Pro) n.2740A>C | |
1 | g.235806578T= | CA2486650229 | LYST | c.2558A= (p.His853=) c.1961A= (p.His654=) n.3109A= c.221A= (p.His74=) n.2740A= | |
1 | g.235806579G>A | CA344956680 | LYST | c.2557C>T (p.His853Tyr) c.1960C>T (p.His654Tyr) n.3108C>T c.220C>T (p.His74Tyr) n.2739C>T | |
1 | g.235806579G>C | CA344956682 | LYST | c.2557C>G (p.His853Asp) c.1960C>G (p.His654Asp) n.3108C>G c.220C>G (p.His74Asp) n.2739C>G | |
1 | g.235806579G>T | CA344956683 | LYST | c.2557C>A (p.His853Asn) c.1960C>A (p.His654Asn) n.3108C>A c.220C>A (p.His74Asn) n.2739C>A | |
1 | g.235806580T>A | CA424027416 | LYST | c.2556A>T (p.Val852=) c.1959A>T (p.Val653=) n.3107A>T c.219A>T (p.Val73=) n.2738A>T | ClinVar |
1 | g.235806580T>C | CA424027413 | LYST | c.2556A>G (p.Val852=) c.1959A>G (p.Val653=) n.3107A>G c.219A>G (p.Val73=) n.2738A>G | |
1 | g.235806580T>G | CA424027412 | LYST | c.2556A>C (p.Val852=) c.1959A>C (p.Val653=) n.3107A>C c.219A>C (p.Val73=) n.2738A>C | |
1 | g.235806581A= | CA1148728152 | LYST | c.2555T= (p.Val852=) c.1958T= (p.Val653=) n.3106T= c.218T= (p.Val73=) n.2737T= | |
1 | g.235806581A>C | CA344956685 | LYST | c.2555T>G (p.Val852Gly) c.1958T>G (p.Val653Gly) n.3106T>G c.218T>G (p.Val73Gly) n.2737T>G | |
1 | g.235806581A>G | CA1467254 | LYST | c.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 |
1 | g.235806581A>T | CA344956687 | LYST | c.2555T>A (p.Val852Glu) c.1958T>A (p.Val653Glu) n.3106T>A c.218T>A (p.Val73Glu) n.2737T>A | |
1 | g.235806582C>A | CA344956693 | LYST | c.2554G>T (p.Val852Leu) c.1957G>T (p.Val653Leu) n.3105G>T c.217G>T (p.Val73Leu) n.2736G>T | |
1 | g.235806582C= | CA2486650230 | LYST | c.2554G= (p.Val852=) c.1957G= (p.Val653=) n.3105G= c.217G= (p.Val73=) n.2736G= | |
1 | g.235806582C>G | CA344956692 | LYST | c.2554G>C (p.Val852Leu) c.1957G>C (p.Val653Leu) n.3105G>C c.217G>C (p.Val73Leu) n.2736G>C | dbSNP |
1 | g.235806582C>T | CA344956690 | LYST | c.2554G>A (p.Val852Ile) c.1957G>A (p.Val653Ile) n.3105G>A c.217G>A (p.Val73Ile) n.2736G>A | ClinVar dbSNP |
1 | g.235806583A= | CA2486650231 | LYST | c.2553T= (p.Ser851=) c.1956T= (p.Ser652=) n.3104T= c.216T= (p.Ser72=) n.2735T= | |
1 | g.235806583A>C | CA424027420 | LYST | c.2553T>G (p.Ser851=) c.1956T>G (p.Ser652=) n.3104T>G c.216T>G (p.Ser72=) n.2735T>G | |
1 | g.235806583A>G | CA1467255 | LYST | c.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 |
1 | g.235806583A>T | CA424027421 | LYST | c.2553T>A (p.Ser851=) c.1956T>A (p.Ser652=) n.3104T>A c.216T>A (p.Ser72=) n.2735T>A | |
1 | g.235806584G>A | CA344956696 | LYST | c.2552C>T (p.Ser851Phe) c.1955C>T (p.Ser652Phe) n.3103C>T c.215C>T (p.Ser72Phe) n.2734C>T | dbSNP |
1 | g.235806584G>C | CA344956698 | LYST | c.2552C>G (p.Ser851Cys) c.1955C>G (p.Ser652Cys) n.3103C>G c.215C>G (p.Ser72Cys) n.2734C>G | |
1 | g.235806584G= | CA2486650232 | LYST | c.2552C= (p.Ser851=) c.1955C= (p.Ser652=) n.3103C= c.215C= (p.Ser72=) n.2734C= | |
1 | g.235806584G>T | CA344956700 | LYST | c.2552C>A (p.Ser851Tyr) c.1955C>A (p.Ser652Tyr) n.3103C>A c.215C>A (p.Ser72Tyr) n.2734C>A | |
1 | g.235806585A= | CA2486650233 | LYST | c.2551T= (p.Ser851=) c.1954T= (p.Ser652=) n.3102T= c.214T= (p.Ser72=) n.2733T= | |
1 | g.235806585A>C | CA344956702 | LYST | c.2551T>G (p.Ser851Ala) c.1954T>G (p.Ser652Ala) n.3102T>G c.214T>G (p.Ser72Ala) n.2733T>G | |
1 | g.235806585A>G | CA344956704 | LYST | c.2551T>C (p.Ser851Pro) c.1954T>C (p.Ser652Pro) n.3102T>C c.214T>C (p.Ser72Pro) n.2733T>C | gnomAD v4 |
1 | g.235806585A>T | CA344956705 | LYST | c.2551T>A (p.Ser851Thr) c.1954T>A (p.Ser652Thr) n.3102T>A c.214T>A (p.Ser72Thr) n.2733T>A | dbSNP |
1 | g.235806586G>A | CA424027427 | LYST | c.2550C>T (p.Ser850=) c.1953C>T (p.Ser651=) n.3101C>T c.213C>T (p.Ser71=) n.2732C>T | gnomAD v4 |
1 | g.235806586G>C | CA424027429 | LYST | c.2550C>G (p.Ser850=) c.1953C>G (p.Ser651=) n.3101C>G c.213C>G (p.Ser71=) n.2732C>G | |
1 | g.235806586G>T | CA424027430 | LYST | c.2550C>A (p.Ser850=) c.1953C>A (p.Ser651=) n.3101C>A c.213C>A (p.Ser71=) n.2732C>A | |
1 | g.235806587G>A | CA344956708 | LYST | c.2549C>T (p.Ser850Phe) c.1952C>T (p.Ser651Phe) n.3100C>T c.212C>T (p.Ser71Phe) n.2731C>T | |
1 | g.235806587G>C | CA344956709 | LYST | c.2549C>G (p.Ser850Cys) c.1952C>G (p.Ser651Cys) n.3100C>G c.212C>G (p.Ser71Cys) n.2731C>G | |
1 | g.235806587G>T | CA344956710 | LYST | c.2549C>A (p.Ser850Tyr) c.1952C>A (p.Ser651Tyr) n.3100C>A c.212C>A (p.Ser71Tyr) n.2731C>A | |
1 | g.235806588A= | CA2486650234 | LYST | c.2548T= (p.Ser850=) c.1951T= (p.Ser651=) n.3099T= c.211T= (p.Ser71=) n.2730T= | |
1 | g.235806588A>C | CA344956713 | LYST | c.2548T>G (p.Ser850Ala) c.1951T>G (p.Ser651Ala) n.3099T>G c.211T>G (p.Ser71Ala) n.2730T>G | |
1 | g.235806588A>G | CA344956714 | LYST | c.2548T>C (p.Ser850Pro) c.1951T>C (p.Ser651Pro) n.3099T>C c.211T>C (p.Ser71Pro) n.2730T>C | |
1 | g.235806588A>T | CA1467256 | LYST | c.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 |
1 | g.235806589C>A | CA344956718 | LYST | c.2547G>T (p.Leu849Phe) c.1950G>T (p.Leu650Phe) n.3098G>T c.210G>T (p.Leu70Phe) n.2729G>T | gnomAD v4 |
1 | g.235806589C>G | CA344956724 | LYST | c.2547G>C (p.Leu849Phe) c.1950G>C (p.Leu650Phe) n.3098G>C c.210G>C (p.Leu70Phe) n.2729G>C | |
1 | g.235806589C>T | CA424027438 | LYST | c.2547G>A (p.Leu849=) c.1950G>A (p.Leu650=) n.3098G>A c.210G>A (p.Leu70=) n.2729G>A | |
1 | g.235806590A= | CA2486650235 | LYST | c.2546T= (p.Leu849=) c.1949T= (p.Leu650=) n.3097T= c.209T= (p.Leu70=) n.2728T= | |
1 | g.235806590A>C | CA344956727 | LYST | c.2546T>G (p.Leu849Trp) c.1949T>G (p.Leu650Trp) n.3097T>G c.209T>G (p.Leu70Trp) n.2728T>G | |
1 | g.235806590A>G | CA344956729 | LYST | c.2546T>C (p.Leu849Ser) c.1949T>C (p.Leu650Ser) n.3097T>C c.209T>C (p.Leu70Ser) n.2728T>C | ClinVar dbSNP gnomAD v4 |
1 | g.235806590A>T | CA344956732 | LYST | c.2546T>A (p.Leu849Ter) c.1949T>A (p.Leu650Ter) n.3097T>A c.209T>A (p.Leu70Ter) n.2728T>A | |
1 | g.235806591A>C | CA344956735 | LYST | c.2545T>G (p.Leu849Val) c.1948T>G (p.Leu650Val) n.3096T>G c.208T>G (p.Leu70Val) n.2727T>G | |
1 | g.235806591A>G | CA424027441 | LYST | c.2545T>C (p.Leu849=) c.1948T>C (p.Leu650=) n.3096T>C c.208T>C (p.Leu70=) n.2727T>C | |
1 | g.235806591A>T | CA344956736 | LYST | c.2545T>A (p.Leu849Met) c.1948T>A (p.Leu650Met) n.3096T>A c.208T>A (p.Leu70Met) n.2727T>A | |
1 | g.235806592C>A | CA344956739 | LYST | c.2544G>T (p.Glu848Asp) c.1947G>T (p.Glu649Asp) n.3095G>T c.207G>T (p.Glu69Asp) n.2726G>T | |
1 | g.235806592C>G | CA344956741 | LYST | c.2544G>C (p.Glu848Asp) c.1947G>C (p.Glu649Asp) n.3095G>C c.207G>C (p.Glu69Asp) n.2726G>C | |
1 | g.235806592C>T | CA424027444 | LYST | c.2544G>A (p.Glu848=) c.1947G>A (p.Glu649=) n.3095G>A c.207G>A (p.Glu69=) n.2726G>A | gnomAD v4 |
1 | g.235806593T>A | CA344956744 | LYST | c.2543A>T (p.Glu848Val) c.1946A>T (p.Glu649Val) n.3094A>T c.206A>T (p.Glu69Val) n.2725A>T | |
1 | g.235806593T>C | CA344956746 | LYST | c.2543A>G (p.Glu848Gly) c.1946A>G (p.Glu649Gly) n.3094A>G c.206A>G (p.Glu69Gly) n.2725A>G | |
1 | g.235806593T>G | CA344956747 | LYST | c.2543A>C (p.Glu848Ala) c.1946A>C (p.Glu649Ala) n.3094A>C c.206A>C (p.Glu69Ala) n.2725A>C | gnomAD v4 |
1 | g.235806593dup | CA2574164016 | LYST | c.2543dup (p.Leu849ValfsTer?) c.1946dup (p.Leu650ValfsTer?) n.3094dup c.206dup (p.Leu70ValfsTer?) n.2725dup | |
1 | g.235806594C>A | CA344956750 | LYST | c.2542G>T (p.Glu848Ter) c.1945G>T (p.Glu649Ter) n.3093G>T c.205G>T (p.Glu69Ter) n.2724G>T | |
1 | g.235806594C= | CA2486650237 | LYST | c.2542G= (p.Glu848=) c.1945G= (p.Glu649=) n.3093G= c.205G= (p.Glu69=) n.2724G= | |
1 | g.235806594C>G | CA344956752 | LYST | c.2542G>C (p.Glu848Gln) c.1945G>C (p.Glu649Gln) n.3093G>C c.205G>C (p.Glu69Gln) n.2724G>C | gnomAD v4 |
1 | g.235806594C>T | CA344956753 | LYST | c.2542G>A (p.Glu848Lys) c.1945G>A (p.Glu649Lys) n.3093G>A c.205G>A (p.Glu69Lys) n.2724G>A | dbSNP |
1 | g.235806594_235806597delinsCCTT | CA2486650236 | LYST | c.2539_2542delinsAAGG (p.Lys847=) c.1942_1945delinsAAGG (p.Lys648=) n.3090_3093delinsAAGG c.202_205delinsAAGG (p.Lys68=) n.2721_2724delinsAAGG | |
1 | g.235806595C>A | CA344956759 | LYST | c.2541G>T (p.Lys847Asn) c.1944G>T (p.Lys648Asn) n.3092G>T c.204G>T (p.Lys68Asn) n.2723G>T | |
1 | g.235806595C>G | CA344956755 | LYST | c.2541G>C (p.Lys847Asn) c.1944G>C (p.Lys648Asn) n.3092G>C c.204G>C (p.Lys68Asn) n.2723G>C | |
1 | g.235806595C>T | CA424027572 | LYST | c.2541G>A (p.Lys847=) c.1944G>A (p.Lys648=) n.3092G>A c.204G>A (p.Lys68=) n.2723G>A | |
1 | g.235806595_235806596delinsCT | CA2486650238 | LYST | c.2540_2541delinsAG (p.Lys847=) c.1943_1944delinsAG (p.Lys648=) n.3091_3092delinsAG c.203_204delinsAG (p.Lys68=) n.2722_2723delinsAG | |
1 | g.235806597_235806599del | CA1467257 | LYST | c.2539_2541del (p.Lys847del) c.1942_1944del (p.Lys648del) n.3090_3092del c.202_204del (p.Lys68del) n.2721_2723del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.235806596T>A | CA344956760 | LYST | c.2540A>T (p.Lys847Met) c.1943A>T (p.Lys648Met) n.3091A>T c.203A>T (p.Lys68Met) n.2722A>T | |
1 | g.235806596T>C | CA344956762 | LYST | c.2540A>G (p.Lys847Arg) c.1943A>G (p.Lys648Arg) n.3091A>G c.203A>G (p.Lys68Arg) n.2722A>G | |
1 | g.235806596T>G | CA344956764 | LYST | c.2540A>C (p.Lys847Thr) c.1943A>C (p.Lys648Thr) n.3091A>C c.203A>C (p.Lys68Thr) n.2722A>C | |
1 | g.235806597del | CA2486650239 | LYST | c.2540del (p.Lys847ArgfsTer?) c.1943del (p.Lys648ArgfsTer?) n.3091del c.203del (p.Lys68ArgfsTer?) n.2722del | ClinVar dbSNP gnomAD v4 |
1 | g.235806597T>A | CA344956766 | LYST | c.2539A>T (p.Lys847Ter) c.1942A>T (p.Lys648Ter) n.3090A>T c.202A>T (p.Lys68Ter) n.2721A>T | |
1 | g.235806597T>C | CA344956768 | LYST | c.2539A>G (p.Lys847Glu) c.1942A>G (p.Lys648Glu) n.3090A>G c.202A>G (p.Lys68Glu) n.2721A>G | |
1 | g.235806597T>G | CA344956770 | LYST | c.2539A>C (p.Lys847Gln) c.1942A>C (p.Lys648Gln) n.3090A>C c.202A>C (p.Lys68Gln) n.2721A>C | |
1 | g.235806598C>A | CA344956772 | LYST | c.2538G>T (p.Gln846His) c.1941G>T (p.Gln647His) n.3089G>T c.201G>T (p.Gln67His) n.2720G>T | |
1 | g.235806598C= | CA2486650240 | LYST | c.2538G= (p.Gln846=) c.1941G= (p.Gln647=) n.3089G= c.201G= (p.Gln67=) n.2720G= | |
1 | g.235806598C>G | CA344956774 | LYST | c.2538G>C (p.Gln846His) c.1941G>C (p.Gln647His) n.3089G>C c.201G>C (p.Gln67His) n.2720G>C | dbSNP gnomAD v4 |
1 | g.235806598C>T | CA424027573 | LYST | c.2538G>A (p.Gln846=) c.1941G>A (p.Gln647=) n.3089G>A c.201G>A (p.Gln67=) n.2720G>A | |
1 | g.235806599T>A | CA344956777 | LYST | c.2537A>T (p.Gln846Leu) c.1940A>T (p.Gln647Leu) n.3088A>T c.200A>T (p.Gln67Leu) n.2719A>T | dbSNP gnomAD v2 gnomAD v4 |
1 | g.235806599T>C | CA344956778 | LYST | c.2537A>G (p.Gln846Arg) c.1940A>G (p.Gln647Arg) n.3088A>G c.200A>G (p.Gln67Arg) n.2719A>G | |
1 | g.235806599T>G | CA344956780 | LYST | c.2537A>C (p.Gln846Pro) c.1940A>C (p.Gln647Pro) n.3088A>C c.200A>C (p.Gln67Pro) n.2719A>C | |
1 | g.235806599T= | CA2486650241 | LYST | c.2537A= (p.Gln846=) c.1940A= (p.Gln647=) n.3088A= c.200A= (p.Gln67=) n.2719A= | |
1 | g.235806600G>A | CA344956783 | LYST | c.2536C>T (p.Gln846Ter) c.1939C>T (p.Gln647Ter) n.3087C>T c.199C>T (p.Gln67Ter) n.2718C>T | |
1 | g.235806600G>C | CA344956786 | LYST | c.2536C>G (p.Gln846Glu) c.1939C>G (p.Gln647Glu) n.3087C>G c.199C>G (p.Gln67Glu) n.2718C>G | gnomAD v4 |
1 | g.235806600G>T | CA344956785 | LYST | c.2536C>A (p.Gln846Lys) c.1939C>A (p.Gln647Lys) n.3087C>A c.199C>A (p.Gln67Lys) n.2718C>A | |
1 | g.235806601T>A | CA344956788 | LYST | c.2535A>T (p.Glu845Asp) c.1938A>T (p.Glu646Asp) n.3086A>T c.198A>T (p.Glu66Asp) n.2717A>T | |
1 | g.235806601T>C | CA424027574 | LYST | c.2535A>G (p.Glu845=) c.1938A>G (p.Glu646=) n.3086A>G c.198A>G (p.Glu66=) n.2717A>G | |
1 | g.235806601T>G | CA344956790 | LYST | c.2535A>C (p.Glu845Asp) c.1938A>C (p.Glu646Asp) n.3086A>C c.198A>C (p.Glu66Asp) n.2717A>C | |
1 | g.235806602T>A | CA344956793 | LYST | c.2534A>T (p.Glu845Val) c.1937A>T (p.Glu646Val) n.3085A>T c.197A>T (p.Glu66Val) n.2716A>T | |
1 | g.235806602T>C | CA344956796 | LYST | c.2534A>G (p.Glu845Gly) c.1937A>G (p.Glu646Gly) n.3085A>G c.197A>G (p.Glu66Gly) n.2716A>G | |
1 | g.235806602T>G | CA344956794 | LYST | c.2534A>C (p.Glu845Ala) c.1937A>C (p.Glu646Ala) n.3085A>C c.197A>C (p.Glu66Ala) n.2716A>C | |
1 | g.235806603C>A | CA344956798 | LYST | c.2533G>T (p.Glu845Ter) c.1936G>T (p.Glu646Ter) n.3084G>T c.196G>T (p.Glu66Ter) n.2715G>T | |
1 | g.235806603C>G | CA344956802 | LYST | c.2533G>C (p.Glu845Gln) c.1936G>C (p.Glu646Gln) n.3084G>C c.196G>C (p.Glu66Gln) n.2715G>C | |
1 | g.235806603C>T | CA344956799 | LYST | c.2533G>A (p.Glu845Lys) c.1936G>A (p.Glu646Lys) n.3084G>A c.196G>A (p.Glu66Lys) n.2715G>A | |
1 | g.235806604A= | CA2486650242 | LYST | c.2532T= (p.Ile844=) c.1935T= (p.Ile645=) n.3083T= c.195T= (p.Ile65=) n.2714T= | |
1 | g.235806604A>C | CA344956804 | LYST | c.2532T>G (p.Ile844Met) c.1935T>G (p.Ile645Met) n.3083T>G c.195T>G (p.Ile65Met) n.2714T>G | |
1 | g.235806604A>G | CA424027576 | LYST | c.2532T>C (p.Ile844=) c.1935T>C (p.Ile645=) n.3083T>C c.195T>C (p.Ile65=) n.2714T>C | dbSNP gnomAD v3 gnomAD v4 |
1 | g.235806604A>T | CA424027575 | LYST | c.2532T>A (p.Ile844=) c.1935T>A (p.Ile645=) n.3083T>A c.195T>A (p.Ile65=) n.2714T>A |