UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.43067926del | CA2628093610 | UBR1 | c.770del (p.Gln257ArgfsTer30) c.*202+2973del (n.*202+2973del) | gnomAD v4 |
| 15 | g.43067926T>A | CA392080013 | UBR1 | c.770A>T (p.Gln257Leu) c.*202+2973A>T (n.*202+2973A>T) | |
| 15 | g.43067926T>C | CA392080014 | UBR1 | c.770A>G (p.Gln257Arg) c.*202+2973A>G (n.*202+2973A>G) | dbSNP |
| 15 | g.43067926T>G | CA392080015 | UBR1 | c.770A>C (p.Gln257Pro) c.*202+2973A>C (n.*202+2973A>C) | |
| 15 | g.43067926T= | CA2173020153 | UBR1 | c.770A= (p.Gln257=) c.*202+2973A= (n.*202+2973A=) | |
| 15 | g.43067927G>A | CA392080017 | UBR1 | c.769C>T (p.Gln257Ter) c.*202+2972C>T (n.*202+2972C>T) | gnomAD v4 |
| 15 | g.43067927G>C | CA392080018 | UBR1 | c.769C>G (p.Gln257Glu) c.*202+2972C>G (n.*202+2972C>G) | |
| 15 | g.43067927G>T | CA392080021 | UBR1 | c.769C>A (p.Gln257Lys) c.*202+2972C>A (n.*202+2972C>A) | |
| 15 | g.43067928G>A | CA490121024 | UBR1 | c.768C>T (p.Ala256=) c.*202+2971C>T (n.*202+2971C>T) | |
| 15 | g.43067928G>C | CA490121025 | UBR1 | c.768C>G (p.Ala256=) c.*202+2971C>G (n.*202+2971C>G) | |
| 15 | g.43067928G>T | CA490121026 | UBR1 | c.768C>A (p.Ala256=) c.*202+2971C>A (n.*202+2971C>A) | |
| 15 | g.43067929G>A | CA392080025 | UBR1 | c.767C>T (p.Ala256Val) c.*202+2970C>T (n.*202+2970C>T) | |
| 15 | g.43067929G>C | CA392080032 | UBR1 | c.767C>G (p.Ala256Gly) c.*202+2970C>G (n.*202+2970C>G) | |
| 15 | g.43067929G>T | CA392080030 | UBR1 | c.767C>A (p.Ala256Asp) c.*202+2970C>A (n.*202+2970C>A) | |
| 15 | g.43067930C>A | CA269943698 | UBR1 | c.766G>T (p.Ala256Ser) c.*202+2969G>T (n.*202+2969G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067930C= | CA2173020154 | UBR1 | c.766G= (p.Ala256=) c.*202+2969G= (n.*202+2969G=) | |
| 15 | g.43067930C>G | CA392080036 | UBR1 | c.766G>C (p.Ala256Pro) c.*202+2969G>C (n.*202+2969G>C) | |
| 15 | g.43067930C>T | CA392080039 | UBR1 | c.766G>A (p.Ala256Thr) c.*202+2969G>A (n.*202+2969G>A) | |
| 15 | g.43067931C>A | CA392080044 | UBR1 | c.765G>T (p.Glu255Asp) c.*202+2968G>T (n.*202+2968G>T) | |
| 15 | g.43067931C>G | CA392080046 | UBR1 | c.765G>C (p.Glu255Asp) c.*202+2968G>C (n.*202+2968G>C) | |
| 15 | g.43067931C>T | CA490121027 | UBR1 | c.765G>A (p.Glu255=) c.*202+2968G>A (n.*202+2968G>A) | |
| 15 | g.43067932T>A | CA392080049 | UBR1 | c.764A>T (p.Glu255Val) c.*202+2967A>T (n.*202+2967A>T) | gnomAD v4 |
| 15 | g.43067932T>C | CA392080050 | UBR1 | c.764A>G (p.Glu255Gly) c.*202+2967A>G (n.*202+2967A>G) | |
| 15 | g.43067932T>G | CA392080054 | UBR1 | c.764A>C (p.Glu255Ala) c.*202+2967A>C (n.*202+2967A>C) | |
| 15 | g.43067933C>A | CA392080057 | UBR1 | c.763G>T (p.Glu255Ter) c.*202+2966G>T (n.*202+2966G>T) | |
| 15 | g.43067933C>G | CA392080059 | UBR1 | c.763G>C (p.Glu255Gln) c.*202+2966G>C (n.*202+2966G>C) | |
| 15 | g.43067933C>T | CA392080062 | UBR1 | c.763G>A (p.Glu255Lys) c.*202+2966G>A (n.*202+2966G>A) | COSMIC |
| 15 | g.43067934T>A | CA490121029 | UBR1 | c.762A>T (p.Ala254=) c.*202+2965A>T (n.*202+2965A>T) | |
| 15 | g.43067934T>C | CA7518929 | UBR1 | c.762A>G (p.Ala254=) c.*202+2965A>G (n.*202+2965A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43067934T>G | CA490121028 | UBR1 | c.762A>C (p.Ala254=) c.*202+2965A>C (n.*202+2965A>C) | |
| 15 | g.43067934T= | CA2173020155 | UBR1 | c.762A= (p.Ala254=) c.*202+2965A= (n.*202+2965A=) | |
| 15 | g.43067935G>A | CA7518930 | UBR1 | c.761C>T (p.Ala254Val) c.*202+2964C>T (n.*202+2964C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.43067935G>C | CA392080068 | UBR1 | c.761C>G (p.Ala254Gly) c.*202+2964C>G (n.*202+2964C>G) | |
| 15 | g.43067935G= | CA2173020156 | UBR1 | c.761C= (p.Ala254=) c.*202+2964C= (n.*202+2964C=) | |
| 15 | g.43067935G>T | CA392080072 | UBR1 | c.761C>A (p.Ala254Glu) c.*202+2964C>A (n.*202+2964C>A) | |
| 15 | g.43067936C>A | CA7518931 | UBR1 | c.760G>T (p.Ala254Ser) c.*202+2963G>T (n.*202+2963G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067936C= | CA2173020157 | UBR1 | c.760G= (p.Ala254=) c.*202+2963G= (n.*202+2963G=) | |
| 15 | g.43067936C>G | CA392080076 | UBR1 | c.760G>C (p.Ala254Pro) c.*202+2963G>C (n.*202+2963G>C) | |
| 15 | g.43067936C>T | CA7518932 | UBR1 | c.760G>A (p.Ala254Thr) c.*202+2963G>A (n.*202+2963G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067937G>A | CA7518933 | UBR1 | c.759C>T (p.Leu253=) c.*202+2962C>T (n.*202+2962C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.43067937G>C | CA490121030 | UBR1 | c.759C>G (p.Leu253=) c.*202+2962C>G (n.*202+2962C>G) | gnomAD v4 |
| 15 | g.43067937G= | CA2173020158 | UBR1 | c.759C= (p.Leu253=) c.*202+2962C= (n.*202+2962C=) | |
| 15 | g.43067937G>T | CA490121031 | UBR1 | c.759C>A (p.Leu253=) c.*202+2962C>A (n.*202+2962C>A) | |
| 15 | g.43067938A= | CA2173020159 | UBR1 | c.758T= (p.Leu253=) c.*202+2961T= (n.*202+2961T=) | |
| 15 | g.43067938A>C | CA392080082 | UBR1 | c.758T>G (p.Leu253Arg) c.*202+2961T>G (n.*202+2961T>G) | dbSNP |
| 15 | g.43067938A>G | CA392080084 | UBR1 | c.758T>C (p.Leu253Pro) c.*202+2961T>C (n.*202+2961T>C) | |
| 15 | g.43067938A>T | CA392080085 | UBR1 | c.758T>A (p.Leu253His) c.*202+2961T>A (n.*202+2961T>A) | |
| 15 | g.43067939G>A | CA392080088 | UBR1 | c.757C>T (p.Leu253Phe) c.*202+2960C>T (n.*202+2960C>T) | |
| 15 | g.43067939G>C | CA392080091 | UBR1 | c.757C>G (p.Leu253Val) c.*202+2960C>G (n.*202+2960C>G) | |
| 15 | g.43067939G>T | CA392080095 | UBR1 | c.757C>A (p.Leu253Ile) c.*202+2960C>A (n.*202+2960C>A) | |
| 15 | g.43067940C>A | CA392080097 | UBR1 | c.756G>T (p.Glu252Asp) c.*202+2959G>T (n.*202+2959G>T) | |
| 15 | g.43067940C>G | CA392080100 | UBR1 | c.756G>C (p.Glu252Asp) c.*202+2959G>C (n.*202+2959G>C) | |
| 15 | g.43067940C>T | CA490121032 | UBR1 | c.756G>A (p.Glu252=) c.*202+2959G>A (n.*202+2959G>A) | |
| 15 | g.43067941T>A | CA392080107 | UBR1 | c.755A>T (p.Glu252Val) c.*202+2958A>T (n.*202+2958A>T) | |
| 15 | g.43067941T>C | CA392080106 | UBR1 | c.755A>G (p.Glu252Gly) c.*202+2958A>G (n.*202+2958A>G) | gnomAD v4 |
| 15 | g.43067941T>G | CA392080104 | UBR1 | c.755A>C (p.Glu252Ala) c.*202+2958A>C (n.*202+2958A>C) | |
| 15 | g.43067942C>A | CA392080108 | UBR1 | c.754G>T (p.Glu252Ter) c.*202+2957G>T (n.*202+2957G>T) | |
| 15 | g.43067942C>G | CA392080109 | UBR1 | c.754G>C (p.Glu252Gln) c.*202+2957G>C (n.*202+2957G>C) | gnomAD v4 |
| 15 | g.43067942C>T | CA392080110 | UBR1 | c.754G>A (p.Glu252Lys) c.*202+2957G>A (n.*202+2957G>A) | gnomAD v4 |
| 15 | g.43067944_43067945del | CA2628093611 | UBR1 | c.753_754del (p.Cys251Ter) c.*202+2956_*202+2957del (n.*202+2956_*202+2957del) | gnomAD v4 |
| 15 | g.43067943A>C | CA392080112 | UBR1 | c.753T>G (p.Cys251Trp) c.*202+2956T>G (n.*202+2956T>G) | |
| 15 | g.43067943A>G | CA490121033 | UBR1 | c.753T>C (p.Cys251=) c.*202+2956T>C (n.*202+2956T>C) | |
| 15 | g.43067943A>T | CA392080114 | UBR1 | c.753T>A (p.Cys251Ter) c.*202+2956T>A (n.*202+2956T>A) | |
| 15 | g.43067944C>A | CA7518934 | UBR1 | c.752G>T (p.Cys251Phe) c.*202+2955G>T (n.*202+2955G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067944C= | CA2173020160 | UBR1 | c.752G= (p.Cys251=) c.*202+2955G= (n.*202+2955G=) | |
| 15 | g.43067944C>G | CA392080120 | UBR1 | c.752G>C (p.Cys251Ser) c.*202+2955G>C (n.*202+2955G>C) | |
| 15 | g.43067944C>T | CA392080123 | UBR1 | c.752G>A (p.Cys251Tyr) c.*202+2955G>A (n.*202+2955G>A) | |
| 15 | g.43067945A= | CA2173020161 | UBR1 | c.751T= (p.Cys251=) c.*202+2954T= (n.*202+2954T=) | |
| 15 | g.43067945A>C | CA392080128 | UBR1 | c.751T>G (p.Cys251Gly) c.*202+2954T>G (n.*202+2954T>G) | |
| 15 | g.43067945A>G | CA392080134 | UBR1 | c.751T>C (p.Cys251Arg) c.*202+2954T>C (n.*202+2954T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067945A>T | CA392080135 | UBR1 | c.751T>A (p.Cys251Ser) c.*202+2954T>A (n.*202+2954T>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067946G>A | CA490121034 | UBR1 | c.750C>T (p.Asp250=) c.*202+2953C>T (n.*202+2953C>T) | gnomAD v4 |
| 15 | g.43067946G>C | CA392080139 | UBR1 | c.750C>G (p.Asp250Glu) c.*202+2953C>G (n.*202+2953C>G) | gnomAD v4 |
| 15 | g.43067946G>T | CA392080142 | UBR1 | c.750C>A (p.Asp250Glu) c.*202+2953C>A (n.*202+2953C>A) | |
| 15 | g.43067947T>A | CA392080148 | UBR1 | c.749A>T (p.Asp250Val) c.*202+2952A>T (n.*202+2952A>T) | |
| 15 | g.43067947T>C | CA392080149 | UBR1 | c.749A>G (p.Asp250Gly) c.*202+2952A>G (n.*202+2952A>G) | |
| 15 | g.43067947T>G | CA392080145 | UBR1 | c.749A>C (p.Asp250Ala) c.*202+2952A>C (n.*202+2952A>C) | |
| 15 | g.43067948C>A | CA392080150 | UBR1 | c.748G>T (p.Asp250Tyr) c.*202+2951G>T (n.*202+2951G>T) | |
| 15 | g.43067948C>G | CA392080153 | UBR1 | c.748G>C (p.Asp250His) c.*202+2951G>C (n.*202+2951G>C) | |
| 15 | g.43067948C>T | CA392080151 | UBR1 | c.748G>A (p.Asp250Asn) c.*202+2951G>A (n.*202+2951G>A) | COSMIC |
| 15 | g.43067949A= | CA2173020162 | UBR1 | c.747T= (p.Leu249=) c.*202+2950T= (n.*202+2950T=) | |
| 15 | g.43067949A>C | CA490121036 | UBR1 | c.747T>G (p.Leu249=) c.*202+2950T>G (n.*202+2950T>G) | |
| 15 | g.43067949A>G | CA490121037 | UBR1 | c.747T>C (p.Leu249=) c.*202+2950T>C (n.*202+2950T>C) | gnomAD v4 |
| 15 | g.43067949A>T | CA490121035 | UBR1 | c.747T>A (p.Leu249=) c.*202+2950T>A (n.*202+2950T>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067950A>C | CA392080154 | UBR1 | c.746T>G (p.Leu249Arg) c.*202+2949T>G (n.*202+2949T>G) | gnomAD v4 |
| 15 | g.43067950A>G | CA392080155 | UBR1 | c.746T>C (p.Leu249Pro) c.*202+2949T>C (n.*202+2949T>C) | |
| 15 | g.43067950A>T | CA392080157 | UBR1 | c.746T>A (p.Leu249His) c.*202+2949T>A (n.*202+2949T>A) | |
| 15 | g.43067951G>A | CA392080159 | UBR1 | c.745C>T (p.Leu249Phe) c.*202+2948C>T (n.*202+2948C>T) | |
| 15 | g.43067951G>C | CA392080162 | UBR1 | c.745C>G (p.Leu249Val) c.*202+2948C>G (n.*202+2948C>G) | |
| 15 | g.43067951G>T | CA392080163 | UBR1 | c.745C>A (p.Leu249Ile) c.*202+2948C>A (n.*202+2948C>A) | |
| 15 | g.43067952A>C | CA490121038 | UBR1 | c.744T>G (p.Ala248=) c.*202+2947T>G (n.*202+2947T>G) | |
| 15 | g.43067952A>G | CA490121039 | UBR1 | c.744T>C (p.Ala248=) c.*202+2947T>C (n.*202+2947T>C) | gnomAD v4 |
| 15 | g.43067952A>T | CA490121040 | UBR1 | c.744T>A (p.Ala248=) c.*202+2947T>A (n.*202+2947T>A) | |
| 15 | g.43067953G>A | CA392080164 | UBR1 | c.743C>T (p.Ala248Val) c.*202+2946C>T (n.*202+2946C>T) | |
| 15 | g.43067953G>C | CA392080165 | UBR1 | c.743C>G (p.Ala248Gly) c.*202+2946C>G (n.*202+2946C>G) | |
| 15 | g.43067953G>T | CA392080167 | UBR1 | c.743C>A (p.Ala248Asp) c.*202+2946C>A (n.*202+2946C>A) | |
| 15 | g.43067954C>A | CA392080171 | UBR1 | c.742G>T (p.Ala248Ser) c.*202+2945G>T (n.*202+2945G>T) | gnomAD v4 |
| 15 | g.43067954C>G | CA392080173 | UBR1 | c.742G>C (p.Ala248Pro) c.*202+2945G>C (n.*202+2945G>C) | |
| 15 | g.43067954C>T | CA392080176 | UBR1 | c.742G>A (p.Ala248Thr) c.*202+2945G>A (n.*202+2945G>A) | gnomAD v4 |
| 15 | g.43067955T>A | CA392080180 | UBR1 | c.741A>T (p.Arg247Ser) c.*202+2944A>T (n.*202+2944A>T) | |
| 15 | g.43067955T>C | CA490121041 | UBR1 | c.741A>G (p.Arg247=) c.*202+2944A>G (n.*202+2944A>G) | dbSNP |
| 15 | g.43067955T>G | CA392080178 | UBR1 | c.741A>C (p.Arg247Ser) c.*202+2944A>C (n.*202+2944A>C) | |
| 15 | g.43067955T= | CA2173020163 | UBR1 | c.741A= (p.Arg247=) c.*202+2944A= (n.*202+2944A=) | |
| 15 | g.43067956C>A | CA392080183 | UBR1 | c.740G>T (p.Arg247Ile) c.*202+2943G>T (n.*202+2943G>T) | |
| 15 | g.43067956C>G | CA392080186 | UBR1 | c.740G>C (p.Arg247Thr) c.*202+2943G>C (n.*202+2943G>C) | |
| 15 | g.43067956C>T | CA392080188 | UBR1 | c.740G>A (p.Arg247Lys) c.*202+2943G>A (n.*202+2943G>A) | |
| 15 | g.43067957T>A | CA392080190 | UBR1 | c.739A>T (p.Arg247Ter) c.*202+2942A>T (n.*202+2942A>T) | |
| 15 | g.43067957T>C | CA392080193 | UBR1 | c.739A>G (p.Arg247Gly) c.*202+2942A>G (n.*202+2942A>G) | |
| 15 | g.43067957T>G | CA490121042 | UBR1 | c.739A>C (p.Arg247=) c.*202+2942A>C (n.*202+2942A>C) | |
| 15 | g.43067958T>A | CA392080196 | UBR1 | c.738A>T (p.Gln246His) c.*202+2941A>T (n.*202+2941A>T) | |
| 15 | g.43067958T>C | CA7518935 | UBR1 | c.738A>G (p.Gln246=) c.*202+2941A>G (n.*202+2941A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067958T>G | CA392080203 | UBR1 | c.738A>C (p.Gln246His) c.*202+2941A>C (n.*202+2941A>C) | |
| 15 | g.43067958T= | CA2173020164 | UBR1 | c.738A= (p.Gln246=) c.*202+2941A= (n.*202+2941A=) | |
| 15 | g.43067959T>A | CA392080207 | UBR1 | c.737A>T (p.Gln246Leu) c.*202+2940A>T (n.*202+2940A>T) | |
| 15 | g.43067959T>C | CA392080209 | UBR1 | c.737A>G (p.Gln246Arg) c.*202+2940A>G (n.*202+2940A>G) | dbSNP gnomAD v4 |
| 15 | g.43067959T>G | CA392080212 | UBR1 | c.737A>C (p.Gln246Pro) c.*202+2940A>C (n.*202+2940A>C) | |
| 15 | g.43067959T= | CA2173020165 | UBR1 | c.737A= (p.Gln246=) c.*202+2940A= (n.*202+2940A=) | |
| 15 | g.43067960G>A | CA392080222 | UBR1 | c.736C>T (p.Gln246Ter) c.*202+2939C>T (n.*202+2939C>T) | |
| 15 | g.43067960G>C | CA392080219 | UBR1 | c.736C>G (p.Gln246Glu) c.*202+2939C>G (n.*202+2939C>G) | |
| 15 | g.43067960G>T | CA392080216 | UBR1 | c.736C>A (p.Gln246Lys) c.*202+2939C>A (n.*202+2939C>A) | |
| 15 | g.43067961T>A | CA7518936 | UBR1 | c.735A>T (p.Leu245=) c.*202+2938A>T (n.*202+2938A>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067961T>C | CA490121043 | UBR1 | c.735A>G (p.Leu245=) c.*202+2938A>G (n.*202+2938A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067961T>G | CA490121044 | UBR1 | c.735A>C (p.Leu245=) c.*202+2938A>C (n.*202+2938A>C) | |
| 15 | g.43067961T= | CA2173020166 | UBR1 | c.735A= (p.Leu245=) c.*202+2938A= (n.*202+2938A=) | |
| 15 | g.43067962A= | CA2173020167 | UBR1 | c.734T= (p.Leu245=) c.*202+2937T= (n.*202+2937T=) | |
| 15 | g.43067962A>C | CA392080226 | UBR1 | c.734T>G (p.Leu245Arg) c.*202+2937T>G (n.*202+2937T>G) | |
| 15 | g.43067962A>G | CA392080227 | UBR1 | c.734T>C (p.Leu245Pro) c.*202+2937T>C (n.*202+2937T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43067962A>T | CA392080228 | UBR1 | c.734T>A (p.Leu245Gln) c.*202+2937T>A (n.*202+2937T>A) | |
| 15 | g.43067963G>A | CA490121045 | UBR1 | c.733C>T (p.Leu245=) c.*202+2936C>T (n.*202+2936C>T) | |
| 15 | g.43067963G>C | CA392080229 | UBR1 | c.733C>G (p.Leu245Val) c.*202+2936C>G (n.*202+2936C>G) | gnomAD v4 |
| 15 | g.43067963G>T | CA392080232 | UBR1 | c.733C>A (p.Leu245Ile) c.*202+2936C>A (n.*202+2936C>A) | |
| 15 | g.43067964G>A | CA490121046 | UBR1 | c.732C>T (p.Ser244=) c.*202+2935C>T (n.*202+2935C>T) | gnomAD v4 |
| 15 | g.43067964G>C | CA392080234 | UBR1 | c.732C>G (p.Ser244Arg) c.*202+2935C>G (n.*202+2935C>G) | |
| 15 | g.43067964G>T | CA392080236 | UBR1 | c.732C>A (p.Ser244Arg) c.*202+2935C>A (n.*202+2935C>A) | |
| 15 | g.43067965C>A | CA392080240 | UBR1 | c.731G>T (p.Ser244Ile) c.*202+2934G>T (n.*202+2934G>T) | |
| 15 | g.43067965C>G | CA392080242 | UBR1 | c.731G>C (p.Ser244Thr) c.*202+2934G>C (n.*202+2934G>C) | |
| 15 | g.43067965C>T | CA392080245 | UBR1 | c.731G>A (p.Ser244Asn) c.*202+2934G>A (n.*202+2934G>A) | |
| 15 | g.43067966T>A | CA392080250 | UBR1 | c.730A>T (p.Ser244Cys) c.*202+2933A>T (n.*202+2933A>T) | |
| 15 | g.43067966T>C | CA392080252 | UBR1 | c.730A>G (p.Ser244Gly) c.*202+2933A>G (n.*202+2933A>G) | |
| 15 | g.43067966T>G | CA392080256 | UBR1 | c.730A>C (p.Ser244Arg) c.*202+2933A>C (n.*202+2933A>C) | |
| 15 | g.43067967G>A | CA490121047 | UBR1 | c.729C>T (p.Tyr243=) c.*202+2932C>T (n.*202+2932C>T) | dbSNP gnomAD v4 |
| 15 | g.43067967G>C | CA392080258 | UBR1 | c.729C>G (p.Tyr243Ter) c.*202+2932C>G (n.*202+2932C>G) | |
| 15 | g.43067967G= | CA2173020168 | UBR1 | c.729C= (p.Tyr243=) c.*202+2932C= (n.*202+2932C=) | |
| 15 | g.43067967G>T | CA392080260 | UBR1 | c.729C>A (p.Tyr243Ter) c.*202+2932C>A (n.*202+2932C>A) | |
| 15 | g.43067968T>A | CA392080264 | UBR1 | c.728A>T (p.Tyr243Phe) c.*202+2931A>T (n.*202+2931A>T) | |
| 15 | g.43067968T>C | CA392080270 | UBR1 | c.728A>G (p.Tyr243Cys) c.*202+2931A>G (n.*202+2931A>G) | |
| 15 | g.43067968T>G | CA392080274 | UBR1 | c.728A>C (p.Tyr243Ser) c.*202+2931A>C (n.*202+2931A>C) | |
| 15 | g.43067969A>C | CA392080276 | UBR1 | c.727T>G (p.Tyr243Asp) c.*202+2930T>G (n.*202+2930T>G) | |
| 15 | g.43067969A>G | CA392080278 | UBR1 | c.727T>C (p.Tyr243His) c.*202+2930T>C (n.*202+2930T>C) | gnomAD v4 |
| 15 | g.43067969A>T | CA392080281 | UBR1 | c.727T>A (p.Tyr243Asn) c.*202+2930T>A (n.*202+2930T>A) | |
| 15 | g.43067970T>A | CA7518937 | UBR1 | c.726A>T (p.Ile242=) c.*202+2929A>T (n.*202+2929A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067970T>C | CA392080285 | UBR1 | c.726A>G (p.Ile242Met) c.*202+2929A>G (n.*202+2929A>G) | |
| 15 | g.43067970T>G | CA490121048 | UBR1 | c.726A>C (p.Ile242=) c.*202+2929A>C (n.*202+2929A>C) | |
| 15 | g.43067970T= | CA2173020169 | UBR1 | c.726A= (p.Ile242=) c.*202+2929A= (n.*202+2929A=) | |
| 15 | g.43067971A>C | CA392080286 | UBR1 | c.725T>G (p.Ile242Arg) c.*202+2928T>G (n.*202+2928T>G) | |
| 15 | g.43067971A>G | CA392080287 | UBR1 | c.725T>C (p.Ile242Thr) c.*202+2928T>C (n.*202+2928T>C) | gnomAD v4 |
| 15 | g.43067971A>T | CA392080288 | UBR1 | c.725T>A (p.Ile242Lys) c.*202+2928T>A (n.*202+2928T>A) | |
| 15 | g.43067972T>A | CA392080295 | UBR1 | c.724A>T (p.Ile242Leu) c.*202+2927A>T (n.*202+2927A>T) | |
| 15 | g.43067972T>C | CA7518938 | UBR1 | c.724A>G (p.Ile242Val) c.*202+2927A>G (n.*202+2927A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43067972T>G | CA392080290 | UBR1 | c.724A>C (p.Ile242Leu) c.*202+2927A>C (n.*202+2927A>C) | |
| 15 | g.43067972T= | CA2173020170 | UBR1 | c.724A= (p.Ile242=) c.*202+2927A= (n.*202+2927A=) | |
| 15 | g.43067973G>A | CA490121049 | UBR1 | c.723C>T (p.Val241=) c.*202+2926C>T (n.*202+2926C>T) | dbSNP COSMIC |
| 15 | g.43067973G>C | CA490121050 | UBR1 | c.723C>G (p.Val241=) c.*202+2926C>G (n.*202+2926C>G) | |
| 15 | g.43067973G= | CA2173020171 | UBR1 | c.723C= (p.Val241=) c.*202+2926C= (n.*202+2926C=) | |
| 15 | g.43067973G>T | CA490121051 | UBR1 | c.723C>A (p.Val241=) c.*202+2926C>A (n.*202+2926C>A) | |
| 15 | g.43067974A>C | CA392080298 | UBR1 | c.722T>G (p.Val241Gly) c.*202+2925T>G (n.*202+2925T>G) | |
| 15 | g.43067974A>G | CA392080303 | UBR1 | c.722T>C (p.Val241Ala) c.*202+2925T>C (n.*202+2925T>C) | |
| 15 | g.43067974A>T | CA392080301 | UBR1 | c.722T>A (p.Val241Asp) c.*202+2925T>A (n.*202+2925T>A) | |
| 15 | g.43067975C>A | CA392080308 | UBR1 | c.721G>T (p.Val241Phe) c.*202+2924G>T (n.*202+2924G>T) | |
| 15 | g.43067975C= | CA2173020172 | UBR1 | c.721G= (p.Val241=) c.*202+2924G= (n.*202+2924G=) | |
| 15 | g.43067975C>G | CA392080314 | UBR1 | c.721G>C (p.Val241Leu) c.*202+2924G>C (n.*202+2924G>C) | |
| 15 | g.43067975C>T | CA7518939 | UBR1 | c.721G>A (p.Val241Ile) c.*202+2924G>A (n.*202+2924G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067976G>A | CA7518940 | UBR1 | c.720C>T (p.His240=) c.*202+2923C>T (n.*202+2923C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067976G>C | CA392080316 | UBR1 | c.720C>G (p.His240Gln) c.*202+2923C>G (n.*202+2923C>G) | |
| 15 | g.43067976G= | CA2173020173 | UBR1 | c.720C= (p.His240=) c.*202+2923C= (n.*202+2923C=) | |
| 15 | g.43067976G>T | CA392080315 | UBR1 | c.720C>A (p.His240Gln) c.*202+2923C>A (n.*202+2923C>A) | |
| 15 | g.43067977T>A | CA392080319 | UBR1 | c.719A>T (p.His240Leu) c.*202+2922A>T (n.*202+2922A>T) | |
| 15 | g.43067977T>C | CA392080326 | UBR1 | c.719A>G (p.His240Arg) c.*202+2922A>G (n.*202+2922A>G) | |
| 15 | g.43067977T>G | CA392080323 | UBR1 | c.719A>C (p.His240Pro) c.*202+2922A>C (n.*202+2922A>C) | |
| 15 | g.43067978G>A | CA392080327 | UBR1 | c.718C>T (p.His240Tyr) c.*202+2921C>T (n.*202+2921C>T) | |
| 15 | g.43067978G>C | CA7518941 | UBR1 | c.718C>G (p.His240Asp) c.*202+2921C>G (n.*202+2921C>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.43067978G= | CA2173020174 | UBR1 | c.718C= (p.His240=) c.*202+2921C= (n.*202+2921C=) | |
| 15 | g.43067978G>T | CA392080328 | UBR1 | c.718C>A (p.His240Asn) c.*202+2921C>A (n.*202+2921C>A) | |
| 15 | g.43067979G>A | CA490121052 | UBR1 | c.717C>T (p.Asp239=) c.*202+2920C>T (n.*202+2920C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067979G>C | CA392080330 | UBR1 | c.717C>G (p.Asp239Glu) c.*202+2920C>G (n.*202+2920C>G) | |
| 15 | g.43067979G= | CA2173020175 | UBR1 | c.717C= (p.Asp239=) c.*202+2920C= (n.*202+2920C=) | |
| 15 | g.43067979G>T | CA392080332 | UBR1 | c.717C>A (p.Asp239Glu) c.*202+2920C>A (n.*202+2920C>A) | COSMIC |
| 15 | g.43067980T>A | CA392080334 | UBR1 | c.716A>T (p.Asp239Val) c.*202+2919A>T (n.*202+2919A>T) | |
| 15 | g.43067980T>C | CA392080335 | UBR1 | c.716A>G (p.Asp239Gly) c.*202+2919A>G (n.*202+2919A>G) | |
| 15 | g.43067980T>G | CA392080337 | UBR1 | c.716A>C (p.Asp239Ala) c.*202+2919A>C (n.*202+2919A>C) | |
| 15 | g.43067981C>A | CA392080340 | UBR1 | c.715G>T (p.Asp239Tyr) c.*202+2918G>T (n.*202+2918G>T) | gnomAD v4 |
| 15 | g.43067981C>G | CA392080343 | UBR1 | c.715G>C (p.Asp239His) c.*202+2918G>C (n.*202+2918G>C) | |
| 15 | g.43067981C>T | CA392080344 | UBR1 | c.715G>A (p.Asp239Asn) c.*202+2918G>A (n.*202+2918G>A) | |
| 15 | g.43067982A>C | CA392080349 | UBR1 | c.714T>G (p.Tyr238Ter) c.*202+2917T>G (n.*202+2917T>G) | |
| 15 | g.43067982A>G | CA490121053 | UBR1 | c.714T>C (p.Tyr238=) c.*202+2917T>C (n.*202+2917T>C) | gnomAD v4 |
| 15 | g.43067982A>T | CA392080346 | UBR1 | c.714T>A (p.Tyr238Ter) c.*202+2917T>A (n.*202+2917T>A) | |
| 15 | g.43067983T>A | CA392080353 | UBR1 | c.713A>T (p.Tyr238Phe) c.*202+2916A>T (n.*202+2916A>T) | |
| 15 | g.43067983T>C | CA392080355 | UBR1 | c.713A>G (p.Tyr238Cys) c.*202+2916A>G (n.*202+2916A>G) | |
| 15 | g.43067983T>G | CA392080357 | UBR1 | c.713A>C (p.Tyr238Ser) c.*202+2916A>C (n.*202+2916A>C) | |
| 15 | g.43067984A>C | CA392080360 | UBR1 | c.712T>G (p.Tyr238Asp) c.*202+2915T>G (n.*202+2915T>G) | |
| 15 | g.43067984A>G | CA392080362 | UBR1 | c.712T>C (p.Tyr238His) c.*202+2915T>C (n.*202+2915T>C) | |
| 15 | g.43067984A>T | CA392080364 | UBR1 | c.712T>A (p.Tyr238Asn) c.*202+2915T>A (n.*202+2915T>A) | |
| 15 | g.43067985T>A | CA490121054 | UBR1 | c.711A>T (p.Ser237=) c.*202+2914A>T (n.*202+2914A>T) | |
| 15 | g.43067985T>C | CA7518942 | UBR1 | c.711A>G (p.Ser237=) c.*202+2914A>G (n.*202+2914A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067985T>G | CA490121055 | UBR1 | c.711A>C (p.Ser237=) c.*202+2914A>C (n.*202+2914A>C) | |
| 15 | g.43067985T= | CA2173020176 | UBR1 | c.711A= (p.Ser237=) c.*202+2914A= (n.*202+2914A=) | |
| 15 | g.43067986G>A | CA392080367 | UBR1 | c.710C>T (p.Ser237Leu) c.*202+2913C>T (n.*202+2913C>T) | |
| 15 | g.43067986G>C | CA392080369 | UBR1 | c.710C>G (p.Ser237Ter) c.*202+2913C>G (n.*202+2913C>G) | |
| 15 | g.43067986G>T | CA392080372 | UBR1 | c.710C>A (p.Ser237Ter) c.*202+2913C>A (n.*202+2913C>A) | |
| 15 | g.43067987A>C | CA392080379 | UBR1 | c.709T>G (p.Ser237Ala) c.*202+2912T>G (n.*202+2912T>G) | |
| 15 | g.43067987A>G | CA392080377 | UBR1 | c.709T>C (p.Ser237Pro) c.*202+2912T>C (n.*202+2912T>C) | |
| 15 | g.43067987A>T | CA392080375 | UBR1 | c.709T>A (p.Ser237Thr) c.*202+2912T>A (n.*202+2912T>A) | |
| 15 | g.43067988A>C | CA392080382 | UBR1 | c.708T>G (p.His236Gln) c.*202+2911T>G (n.*202+2911T>G) | |
| 15 | g.43067988A>G | CA490121056 | UBR1 | c.708T>C (p.His236=) c.*202+2911T>C (n.*202+2911T>C) | gnomAD v4 |
| 15 | g.43067988A>T | CA392080384 | UBR1 | c.708T>A (p.His236Gln) c.*202+2911T>A (n.*202+2911T>A) | |
| 15 | g.43067989T>A | CA392080388 | UBR1 | c.707A>T (p.His236Leu) c.*202+2910A>T (n.*202+2910A>T) | |
| 15 | g.43067989T>C | CA392080390 | UBR1 | c.707A>G (p.His236Arg) c.*202+2910A>G (n.*202+2910A>G) | gnomAD v4 |
| 15 | g.43067989T>G | CA392080394 | UBR1 | c.707A>C (p.His236Pro) c.*202+2910A>C (n.*202+2910A>C) | |
| 15 | g.43067990G>A | CA392080397 | UBR1 | c.706C>T (p.His236Tyr) c.*202+2909C>T (n.*202+2909C>T) | |
| 15 | g.43067990G>C | CA392080399 | UBR1 | c.706C>G (p.His236Asp) c.*202+2909C>G (n.*202+2909C>G) | |
| 15 | g.43067990G= | CA2173020177 | UBR1 | c.706C= (p.His236=) c.*202+2909C= (n.*202+2909C=) | |
| 15 | g.43067990G>T | CA392080402 | UBR1 | c.706C>A (p.His236Asn) c.*202+2909C>A (n.*202+2909C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067991G>A | CA490121057 | UBR1 | c.705C>T (p.His235=) c.*202+2908C>T (n.*202+2908C>T) | ClinVar gnomAD v4 |
| 15 | g.43067991G>C | CA392080403 | UBR1 | c.705C>G (p.His235Gln) c.*202+2908C>G (n.*202+2908C>G) | |
| 15 | g.43067991G>T | CA392080404 | UBR1 | c.705C>A (p.His235Gln) c.*202+2908C>A (n.*202+2908C>A) | |
| 15 | g.43067992T>A | CA392080405 | UBR1 | c.704A>T (p.His235Leu) c.*202+2907A>T (n.*202+2907A>T) | |
| 15 | g.43067992T>C | CA269943719 | UBR1 | c.704A>G (p.His235Arg) c.*202+2907A>G (n.*202+2907A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43067992T>G | CA392080408 | UBR1 | c.704A>C (p.His235Pro) c.*202+2907A>C (n.*202+2907A>C) | |
| 15 | g.43067992T= | CA2173020178 | UBR1 | c.704A= (p.His235=) c.*202+2907A= (n.*202+2907A=) | |
| 15 | g.43067993G>A | CA392080411 | UBR1 | c.703C>T (p.His235Tyr) c.*202+2906C>T (n.*202+2906C>T) | gnomAD v4 |
| 15 | g.43067993G>C | CA392080416 | UBR1 | c.703C>G (p.His235Asp) c.*202+2906C>G (n.*202+2906C>G) | |
| 15 | g.43067993G>T | CA392080413 | UBR1 | c.703C>A (p.His235Asn) c.*202+2906C>A (n.*202+2906C>A) | |
| 15 | g.43067994T>A | CA392080419 | UBR1 | c.702A>T (p.Glu234Asp) c.*202+2905A>T (n.*202+2905A>T) | |
| 15 | g.43067994T>C | CA490121058 | UBR1 | c.702A>G (p.Glu234=) c.*202+2905A>G (n.*202+2905A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43067994T>G | CA392080422 | UBR1 | c.702A>C (p.Glu234Asp) c.*202+2905A>C (n.*202+2905A>C) | |
| 15 | g.43067994T= | CA2173020179 | UBR1 | c.702A= (p.Glu234=) c.*202+2905A= (n.*202+2905A=) | |
| 15 | g.43067995T>A | CA392080424 | UBR1 | c.701A>T (p.Glu234Val) c.*202+2904A>T (n.*202+2904A>T) | |
| 15 | g.43067995T>C | CA392080426 | UBR1 | c.701A>G (p.Glu234Gly) c.*202+2904A>G (n.*202+2904A>G) | |
| 15 | g.43067995T>G | CA392080432 | UBR1 | c.701A>C (p.Glu234Ala) c.*202+2904A>C (n.*202+2904A>C) | |
| 15 | g.43067996C>A | CA392080434 | UBR1 | c.700G>T (p.Glu234Ter) c.*202+2903G>T (n.*202+2903G>T) | |
| 15 | g.43067996C= | CA2173020180 | UBR1 | c.700G= (p.Glu234=) c.*202+2903G= (n.*202+2903G=) | |
| 15 | g.43067996C>G | CA392080438 | UBR1 | c.700G>C (p.Glu234Gln) c.*202+2903G>C (n.*202+2903G>C) | COSMIC |
| 15 | g.43067996C>T | CA392080439 | UBR1 | c.700G>A (p.Glu234Lys) c.*202+2903G>A (n.*202+2903G>A) | dbSNP gnomAD v4 |
| 15 | g.43067997A>C | CA392080443 | UBR1 | c.699T>G (p.Asp233Glu) c.*202+2902T>G (n.*202+2902T>G) | gnomAD v4 |
| 15 | g.43067997A>G | CA490121059 | UBR1 | c.699T>C (p.Asp233=) c.*202+2902T>C (n.*202+2902T>C) | |
| 15 | g.43067997A>T | CA392080447 | UBR1 | c.699T>A (p.Asp233Glu) c.*202+2902T>A (n.*202+2902T>A) | |
| 15 | g.43067998T>A | CA392080452 | UBR1 | c.698A>T (p.Asp233Val) c.*202+2901A>T (n.*202+2901A>T) | |
| 15 | g.43067998T>C | CA392080453 | UBR1 | c.698A>G (p.Asp233Gly) c.*202+2901A>G (n.*202+2901A>G) | |
| 15 | g.43067998T>G | CA392080450 | UBR1 | c.698A>C (p.Asp233Ala) c.*202+2901A>C (n.*202+2901A>C) | |
| 15 | g.43067999C>A | CA392080456 | UBR1 | c.697G>T (p.Asp233Tyr) c.*202+2900G>T (n.*202+2900G>T) | |
| 15 | g.43067999C>G | CA392080458 | UBR1 | c.697G>C (p.Asp233His) c.*202+2900G>C (n.*202+2900G>C) | |
| 15 | g.43067999C>T | CA392080462 | UBR1 | c.697G>A (p.Asp233Asn) c.*202+2900G>A (n.*202+2900G>A) | gnomAD v4 |
| 15 | g.43068000A= | CA2173020181 | UBR1 | c.696T= (p.Asn232=) c.*202+2899T= (n.*202+2899T=) | |
| 15 | g.43068000A>C | CA392080465 | UBR1 | c.696T>G (p.Asn232Lys) c.*202+2899T>G (n.*202+2899T>G) | |
| 15 | g.43068000A>G | CA490121060 | UBR1 | c.696T>C (p.Asn232=) c.*202+2899T>C (n.*202+2899T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.43068000A>T | CA392080467 | UBR1 | c.696T>A (p.Asn232Lys) c.*202+2899T>A (n.*202+2899T>A) | |
| 15 | g.43068001T>A | CA392080476 | UBR1 | c.695A>T (p.Asn232Ile) c.*202+2898A>T (n.*202+2898A>T) | |
| 15 | g.43068001T>C | CA392080471 | UBR1 | c.695A>G (p.Asn232Ser) c.*202+2898A>G (n.*202+2898A>G) | gnomAD v4 |
| 15 | g.43068001T>G | CA392080474 | UBR1 | c.695A>C (p.Asn232Thr) c.*202+2898A>C (n.*202+2898A>C) | |
| 15 | g.43068002T>A | CA392080480 | UBR1 | c.694A>T (p.Asn232Tyr) c.*202+2897A>T (n.*202+2897A>T) | |
| 15 | g.43068002T>C | CA392080484 | UBR1 | c.694A>G (p.Asn232Asp) c.*202+2897A>G (n.*202+2897A>G) | dbSNP |
| 15 | g.43068002T>G | CA392080487 | UBR1 | c.694A>C (p.Asn232His) c.*202+2897A>C (n.*202+2897A>C) | |
| 15 | g.43068002T= | CA2173020182 | UBR1 | c.694A= (p.Asn232=) c.*202+2897A= (n.*202+2897A=) | |
| 15 | g.43068003G>A | CA490121061 | UBR1 | c.693C>T (p.Phe231=) c.*202+2896C>T (n.*202+2896C>T) | |
| 15 | g.43068003G>C | CA392080490 | UBR1 | c.693C>G (p.Phe231Leu) c.*202+2896C>G (n.*202+2896C>G) | |
| 15 | g.43068003G>T | CA392080493 | UBR1 | c.693C>A (p.Phe231Leu) c.*202+2896C>A (n.*202+2896C>A) | |
| 15 | g.43068004A>C | CA392080501 | UBR1 | c.692T>G (p.Phe231Cys) c.*202+2895T>G (n.*202+2895T>G) | |
| 15 | g.43068004A>G | CA392080495 | UBR1 | c.692T>C (p.Phe231Ser) c.*202+2895T>C (n.*202+2895T>C) | |
| 15 | g.43068004A>T | CA392080498 | UBR1 | c.692T>A (p.Phe231Tyr) c.*202+2895T>A (n.*202+2895T>A) | |
| 15 | g.43068005A>C | CA392080504 | UBR1 | c.691T>G (p.Phe231Val) c.*202+2894T>G (n.*202+2894T>G) | |
| 15 | g.43068005A>G | CA392080507 | UBR1 | c.691T>C (p.Phe231Leu) c.*202+2894T>C (n.*202+2894T>C) | |
| 15 | g.43068005A>T | CA392080509 | UBR1 | c.691T>A (p.Phe231Ile) c.*202+2894T>A (n.*202+2894T>A) | |
| 15 | g.43068006A= | CA2173020183 | UBR1 | c.690T= (p.Leu230=) c.*202+2893T= (n.*202+2893T=) | |
| 15 | g.43068006A>C | CA490121062 | UBR1 | c.690T>G (p.Leu230=) c.*202+2893T>G (n.*202+2893T>G) | |
| 15 | g.43068006A>G | CA7518943 | UBR1 | c.690T>C (p.Leu230=) c.*202+2893T>C (n.*202+2893T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43068006A>T | CA490121063 | UBR1 | c.690T>A (p.Leu230=) c.*202+2893T>A (n.*202+2893T>A) | |
| 15 | g.43068007A= | CA2173020184 | UBR1 | c.689T= (p.Leu230=) c.*202+2892T= (n.*202+2892T=) | |
| 15 | g.43068007A>C | CA392080513 | UBR1 | c.689T>G (p.Leu230Arg) c.*202+2892T>G (n.*202+2892T>G) | |
| 15 | g.43068007A>G | CA7518944 | UBR1 | c.689T>C (p.Leu230Pro) c.*202+2892T>C (n.*202+2892T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.43068007A>T | CA392080516 | UBR1 | c.689T>A (p.Leu230His) c.*202+2892T>A (n.*202+2892T>A) | |
| 15 | g.43068008G>A | CA392080521 | UBR1 | c.688C>T (p.Leu230Phe) c.*202+2891C>T (n.*202+2891C>T) | |
| 15 | g.43068008G>C | CA392080524 | UBR1 | c.688C>G (p.Leu230Val) c.*202+2891C>G (n.*202+2891C>G) | |
| 15 | g.43068008G>T | CA392080527 | UBR1 | c.688C>A (p.Leu230Ile) c.*202+2891C>A (n.*202+2891C>A) | |
| 15 | g.43068009G>A | CA490121066 | UBR1 | c.687C>T (p.Val229=) c.*202+2890C>T (n.*202+2890C>T) | gnomAD v4 |
| 15 | g.43068009G>C | CA490121065 | UBR1 | c.687C>G (p.Val229=) c.*202+2890C>G (n.*202+2890C>G) | |
| 15 | g.43068009G>T | CA490121064 | UBR1 | c.687C>A (p.Val229=) c.*202+2890C>A (n.*202+2890C>A) | gnomAD v4 |
| 15 | g.43068010A>C | CA392080531 | UBR1 | c.686T>G (p.Val229Gly) c.*202+2889T>G (n.*202+2889T>G) | |
| 15 | g.43068010A>G | CA392080533 | UBR1 | c.686T>C (p.Val229Ala) c.*202+2889T>C (n.*202+2889T>C) | |
| 15 | g.43068010A>T | CA392080538 | UBR1 | c.686T>A (p.Val229Asp) c.*202+2889T>A (n.*202+2889T>A) | |
| 15 | g.43068011C>A | CA392080546 | UBR1 | c.685G>T (p.Val229Phe) c.*202+2888G>T (n.*202+2888G>T) | |
| 15 | g.43068011C>G | CA392080549 | UBR1 | c.685G>C (p.Val229Leu) c.*202+2888G>C (n.*202+2888G>C) | |
| 15 | g.43068011C>T | CA392080547 | UBR1 | c.685G>A (p.Val229Ile) c.*202+2888G>A (n.*202+2888G>A) | |
| 15 | g.43068012A>C | CA392080553 | UBR1 | c.684T>G (p.Cys228Trp) c.*202+2887T>G (n.*202+2887T>G) | |
| 15 | g.43068012A>G | CA490121067 | UBR1 | c.684T>C (p.Cys228=) c.*202+2887T>C (n.*202+2887T>C) | |
| 15 | g.43068012A>T | CA392080556 | UBR1 | c.684T>A (p.Cys228Ter) c.*202+2887T>A (n.*202+2887T>A) | |
| 15 | g.43068013C>A | CA392080560 | UBR1 | c.683G>T (p.Cys228Phe) c.*202+2886G>T (n.*202+2886G>T) | dbSNP gnomAD v4 |
| 15 | g.43068013C= | CA2173020185 | UBR1 | c.683G= (p.Cys228=) c.*202+2886G= (n.*202+2886G=) | |
| 15 | g.43068013C>G | CA392080562 | UBR1 | c.683G>C (p.Cys228Ser) c.*202+2886G>C (n.*202+2886G>C) | gnomAD v4 |
| 15 | g.43068013C>T | CA392080564 | UBR1 | c.683G>A (p.Cys228Tyr) c.*202+2886G>A (n.*202+2886G>A) | |
| 15 | g.43068014A>C | CA392080567 | UBR1 | c.682T>G (p.Cys228Gly) c.*202+2885T>G (n.*202+2885T>G) | |
| 15 | g.43068014A>G | CA392080570 | UBR1 | c.682T>C (p.Cys228Arg) c.*202+2885T>C (n.*202+2885T>C) | |
| 15 | g.43068014A>T | CA392080572 | UBR1 | c.682T>A (p.Cys228Ser) c.*202+2885T>A (n.*202+2885T>A) | |
| 15 | g.43068015A= | CA2173020186 | UBR1 | c.681T= (p.Tyr227=) c.*202+2884T= (n.*202+2884T=) | |
| 15 | g.43068015A>C | CA392080575 | UBR1 | c.681T>G (p.Tyr227Ter) c.*202+2884T>G (n.*202+2884T>G) | |
| 15 | g.43068015A>G | CA7518945 | UBR1 | c.681T>C (p.Tyr227=) c.*202+2884T>C (n.*202+2884T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068015A>T | CA392080579 | UBR1 | c.681T>A (p.Tyr227Ter) c.*202+2884T>A (n.*202+2884T>A) | |
| 15 | g.43068016T>A | CA392080586 | UBR1 | c.680A>T (p.Tyr227Phe) c.*202+2883A>T (n.*202+2883A>T) | |
| 15 | g.43068016T>C | CA392080584 | UBR1 | c.680A>G (p.Tyr227Cys) c.*202+2883A>G (n.*202+2883A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.43068016T>G | CA392080582 | UBR1 | c.680A>C (p.Tyr227Ser) c.*202+2883A>C (n.*202+2883A>C) | |
| 15 | g.43068016T= | CA2173020187 | UBR1 | c.680A= (p.Tyr227=) c.*202+2883A= (n.*202+2883A=) | |
| 15 | g.43068017A>C | CA392080589 | UBR1 | c.679T>G (p.Tyr227Asp) c.*202+2882T>G (n.*202+2882T>G) | |
| 15 | g.43068017A>G | CA392080591 | UBR1 | c.679T>C (p.Tyr227His) c.*202+2882T>C (n.*202+2882T>C) | |
| 15 | g.43068017A>T | CA392080595 | UBR1 | c.679T>A (p.Tyr227Asn) c.*202+2882T>A (n.*202+2882T>A) | |
| 15 | g.43068018G>A | CA490121068 | UBR1 | c.678C>T (p.Tyr226=) c.*202+2881C>T (n.*202+2881C>T) | |
| 15 | g.43068018G>C | CA392080598 | UBR1 | c.678C>G (p.Tyr226Ter) c.*202+2881C>G (n.*202+2881C>G) | |
| 15 | g.43068018G>T | CA392080602 | UBR1 | c.678C>A (p.Tyr226Ter) c.*202+2881C>A (n.*202+2881C>A) | gnomAD v4 |
| 15 | g.43068019T>A | CA392080604 | UBR1 | c.677A>T (p.Tyr226Phe) c.*202+2880A>T (n.*202+2880A>T) | |
| 15 | g.43068019T>C | CA392080606 | UBR1 | c.677A>G (p.Tyr226Cys) c.*202+2880A>G (n.*202+2880A>G) | |
| 15 | g.43068019T>G | CA16607782 | UBR1 | c.677A>C (p.Tyr226Ser) c.*202+2880A>C (n.*202+2880A>C) | ClinVar dbSNP |
| 15 | g.43068019T= | CA2173020188 | UBR1 | c.677A= (p.Tyr226=) c.*202+2880A= (n.*202+2880A=) | |
| 15 | g.43068020A>C | CA392080611 | UBR1 | c.676T>G (p.Tyr226Asp) c.*202+2879T>G (n.*202+2879T>G) | |
| 15 | g.43068020A>G | CA392080614 | UBR1 | c.676T>C (p.Tyr226His) c.*202+2879T>C (n.*202+2879T>C) | |
| 15 | g.43068020A>T | CA392080616 | UBR1 | c.676T>A (p.Tyr226Asn) c.*202+2879T>A (n.*202+2879T>A) | |
| 15 | g.43068021T>A | CA392080619 | UBR1 | c.675A>T (p.Arg225Ser) c.*202+2878A>T (n.*202+2878A>T) | |
| 15 | g.43068021T>C | CA490121069 | UBR1 | c.675A>G (p.Arg225=) c.*202+2878A>G (n.*202+2878A>G) | dbSNP |
| 15 | g.43068021T>G | CA269943731 | UBR1 | c.675A>C (p.Arg225Ser) c.*202+2878A>C (n.*202+2878A>C) | dbSNP |
| 15 | g.43068021T= | CA2173020189 | UBR1 | c.675A= (p.Arg225=) c.*202+2878A= (n.*202+2878A=) | |
| 15 | g.43068022C>A | CA392080626 | UBR1 | c.674G>T (p.Arg225Ile) c.*202+2877G>T (n.*202+2877G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068022C>G | CA392080629 | UBR1 | c.674G>C (p.Arg225Thr) c.*202+2877G>C (n.*202+2877G>C) | COSMIC |
| 15 | g.43068022C>T | CA392080623 | UBR1 | c.674G>A (p.Arg225Lys) c.*202+2877G>A (n.*202+2877G>A) | gnomAD v4 |
| 15 | g.43068023T>A | CA392080633 | UBR1 | c.673A>T (p.Arg225Ter) c.*202+2876A>T (n.*202+2876A>T) | |
| 15 | g.43068023T>C | CA392080631 | UBR1 | c.673A>G (p.Arg225Gly) c.*202+2876A>G (n.*202+2876A>G) | gnomAD v4 |
| 15 | g.43068023T>G | CA490121070 | UBR1 | c.673A>C (p.Arg225=) c.*202+2876A>C (n.*202+2876A>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068023T= | CA2173020190 | UBR1 | c.673A= (p.Arg225=) c.*202+2876A= (n.*202+2876A=) | |
| 15 | g.43068024T>A | CA392080635 | UBR1 | c.672A>T (p.Glu224Asp) c.*202+2875A>T (n.*202+2875A>T) | |
| 15 | g.43068024T>C | CA490121071 | UBR1 | c.672A>G (p.Glu224=) c.*202+2875A>G (n.*202+2875A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.43068024T>G | CA392080638 | UBR1 | c.672A>C (p.Glu224Asp) c.*202+2875A>C (n.*202+2875A>C) | |
| 15 | g.43068024T= | CA2173020191 | UBR1 | c.672A= (p.Glu224=) c.*202+2875A= (n.*202+2875A=) | |
| 15 | g.43068025T>A | CA392080641 | UBR1 | c.671A>T (p.Glu224Val) c.*202+2874A>T (n.*202+2874A>T) | |
| 15 | g.43068025T>C | CA392080643 | UBR1 | c.671A>G (p.Glu224Gly) c.*202+2874A>G (n.*202+2874A>G) | gnomAD v4 |
| 15 | g.43068025T>G | CA392080645 | UBR1 | c.671A>C (p.Glu224Ala) c.*202+2874A>C (n.*202+2874A>C) | |
| 15 | g.43068026C>A | CA392080646 | UBR1 | c.670G>T (p.Glu224Ter) c.*202+2873G>T (n.*202+2873G>T) | gnomAD v3 gnomAD v4 |
| 15 | g.43068026C= | CA2173020192 | UBR1 | c.670G= (p.Glu224=) c.*202+2873G= (n.*202+2873G=) | |
| 15 | g.43068026C>G | CA392080648 | UBR1 | c.670G>C (p.Glu224Gln) c.*202+2873G>C (n.*202+2873G>C) | |
| 15 | g.43068026C>T | CA392080650 | UBR1 | c.670G>A (p.Glu224Lys) c.*202+2873G>A (n.*202+2873G>A) | dbSNP gnomAD v2 gnomAD v4 |