WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.132609139T>A | CA360959492 | RAD50 | c.2852T>A (p.Val951Asp) c.2555T>A (p.Val852Asp) n.2460T>A n.3371T>A c.*996T>A (n.*996T>A) c.*2935T>A (n.*2935T>A) c.*1038T>A (n.*1038T>A) c.*2478T>A (n.*2478T>A) | |
| 5 | g.132609139T>C | CA360959495 | RAD50 | c.2852T>C (p.Val951Ala) c.2555T>C (p.Val852Ala) n.2460T>C n.3371T>C c.*996T>C (n.*996T>C) c.*2935T>C (n.*2935T>C) c.*1038T>C (n.*1038T>C) c.*2478T>C (n.*2478T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.132609139T>G | CA360959497 | RAD50 | c.2852T>G (p.Val951Gly) c.2555T>G (p.Val852Gly) n.2460T>G n.3371T>G c.*996T>G (n.*996T>G) c.*2935T>G (n.*2935T>G) c.*1038T>G (n.*1038T>G) c.*2478T>G (n.*2478T>G) | |
| 5 | g.132609139T= | CA1583229552 | RAD50 | c.2852T= (p.Val951=) c.2555T= (p.Val852=) n.2460T= n.3371T= c.*996T= (n.*996T=) c.*2935T= (n.*2935T=) c.*1038T= (n.*1038T=) c.*2478T= (n.*2478T=) | |
| 5 | g.132609140T>A | CA446495060 | RAD50 | c.2853T>A (p.Val951=) c.2556T>A (p.Val852=) n.2461T>A n.3372T>A c.*997T>A (n.*997T>A) c.*2936T>A (n.*2936T>A) c.*1039T>A (n.*1039T>A) c.*2479T>A (n.*2479T>A) | |
| 5 | g.132609140T>C | CA446495061 | RAD50 | c.2853T>C (p.Val951=) c.2556T>C (p.Val852=) n.2461T>C n.3372T>C c.*997T>C (n.*997T>C) c.*2936T>C (n.*2936T>C) c.*1039T>C (n.*1039T>C) c.*2479T>C (n.*2479T>C) | |
| 5 | g.132609140T>G | CA446495063 | RAD50 | c.2853T>G (p.Val951=) c.2556T>G (p.Val852=) n.2461T>G n.3372T>G c.*997T>G (n.*997T>G) c.*2936T>G (n.*2936T>G) c.*1039T>G (n.*1039T>G) c.*2479T>G (n.*2479T>G) | |
| 5 | g.132609141A>C | CA360959500 | RAD50 | c.2854A>C (p.Lys952Gln) c.2557A>C (p.Lys853Gln) n.2462A>C n.3373A>C c.*998A>C (n.*998A>C) c.*2937A>C (n.*2937A>C) c.*1040A>C (n.*1040A>C) c.*2480A>C (n.*2480A>C) | |
| 5 | g.132609141A>G | CA360959504 | RAD50 | c.2854A>G (p.Lys952Glu) c.2557A>G (p.Lys853Glu) n.2462A>G n.3373A>G c.*998A>G (n.*998A>G) c.*2937A>G (n.*2937A>G) c.*1040A>G (n.*1040A>G) c.*2480A>G (n.*2480A>G) | |
| 5 | g.132609141A>T | CA360959509 | RAD50 | c.2854A>T (p.Lys952Ter) c.2557A>T (p.Lys853Ter) n.2462A>T n.3373A>T c.*998A>T (n.*998A>T) c.*2937A>T (n.*2937A>T) c.*1040A>T (n.*1040A>T) c.*2480A>T (n.*2480A>T) | |
| 5 | g.132609155_132609156insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC | CA2768444416 | RAD50 | c.2868_2869insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC (p.Gly956_Tyr957insGluLeuAlaValSerArgAspCysAlaThrAlaValArgSerProAlaTrpAlaThrGluArgAspSerValSerLysLysLysLysLysLysAsnIleHisGly) c.2571_2572insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC (p.Gly857_Tyr858insGluLeuAlaValSerArgAspCysAlaThrAlaValArgSerProAlaTrpAlaThrGluArgAspSerValSerLysLysLysLysLysLysAsnIleHisGly) n.2476_2477insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC n.3387_3388insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC c.*1012_*1013insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC (n.*1012_*1013insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC) c.*2951_*2952insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC (n.*2951_*2952insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC) c.*1054_*1055insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC (n.*1054_*1055insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC) c.*2494_*2495insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC (n.*2494_*2495insGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAATATTCATGGC) | |
| 5 | g.132609142A>C | CA360959512 | RAD50 | c.2855A>C (p.Lys952Thr) c.2558A>C (p.Lys853Thr) n.2463A>C n.3374A>C c.*999A>C (n.*999A>C) c.*2938A>C (n.*2938A>C) c.*1041A>C (n.*1041A>C) c.*2481A>C (n.*2481A>C) | |
| 5 | g.132609142A>G | CA360959513 | RAD50 | c.2855A>G (p.Lys952Arg) c.2558A>G (p.Lys853Arg) n.2463A>G n.3374A>G c.*999A>G (n.*999A>G) c.*2938A>G (n.*2938A>G) c.*1041A>G (n.*1041A>G) c.*2481A>G (n.*2481A>G) | |
| 5 | g.132609142A>T | CA360959516 | RAD50 | c.2855A>T (p.Lys952Ile) c.2558A>T (p.Lys853Ile) n.2463A>T n.3374A>T c.*999A>T (n.*999A>T) c.*2938A>T (n.*2938A>T) c.*1041A>T (n.*1041A>T) c.*2481A>T (n.*2481A>T) | |
| 5 | g.132609143A>C | CA360959526 | RAD50 | c.2856A>C (p.Lys952Asn) c.2559A>C (p.Lys853Asn) n.2464A>C n.3375A>C c.*1000A>C (n.*1000A>C) c.*2939A>C (n.*2939A>C) c.*1042A>C (n.*1042A>C) c.*2482A>C (n.*2482A>C) | |
| 5 | g.132609143A>G | CA446495075 | RAD50 | c.2856A>G (p.Lys952=) c.2559A>G (p.Lys853=) n.2464A>G n.3375A>G c.*1000A>G (n.*1000A>G) c.*2939A>G (n.*2939A>G) c.*1042A>G (n.*1042A>G) c.*2482A>G (n.*2482A>G) | |
| 5 | g.132609143A>T | CA360959528 | RAD50 | c.2856A>T (p.Lys952Asn) c.2559A>T (p.Lys853Asn) n.2464A>T n.3375A>T c.*1000A>T (n.*1000A>T) c.*2939A>T (n.*2939A>T) c.*1042A>T (n.*1042A>T) c.*2482A>T (n.*2482A>T) | |
| 5 | g.132609144A>C | CA360959532 | RAD50 | c.2857A>C (p.Asn953His) c.2560A>C (p.Asn854His) n.2465A>C n.3376A>C c.*1001A>C (n.*1001A>C) c.*2940A>C (n.*2940A>C) c.*1043A>C (n.*1043A>C) c.*2483A>C (n.*2483A>C) | |
| 5 | g.132609144A>G | CA360959534 | RAD50 | c.2857A>G (p.Asn953Asp) c.2560A>G (p.Asn854Asp) n.2465A>G n.3376A>G c.*1001A>G (n.*1001A>G) c.*2940A>G (n.*2940A>G) c.*1043A>G (n.*1043A>G) c.*2483A>G (n.*2483A>G) | |
| 5 | g.132609144A>T | CA360959530 | RAD50 | c.2857A>T (p.Asn953Tyr) c.2560A>T (p.Asn854Tyr) n.2465A>T n.3376A>T c.*1001A>T (n.*1001A>T) c.*2940A>T (n.*2940A>T) c.*1043A>T (n.*1043A>T) c.*2483A>T (n.*2483A>T) | |
| 5 | g.132609145A= | CA1583229553 | RAD50 | c.2858A= (p.Asn953=) c.2561A= (p.Asn854=) n.2466A= n.3377A= c.*1002A= (n.*1002A=) c.*2941A= (n.*2941A=) c.*1044A= (n.*1044A=) c.*2484A= (n.*2484A=) | |
| 5 | g.132609145A>C | CA360959540 | RAD50 | c.2858A>C (p.Asn953Thr) c.2561A>C (p.Asn854Thr) n.2466A>C n.3377A>C c.*1002A>C (n.*1002A>C) c.*2941A>C (n.*2941A>C) c.*1044A>C (n.*1044A>C) c.*2484A>C (n.*2484A>C) | |
| 5 | g.132609145A>G | CA360959537 | RAD50 | c.2858A>G (p.Asn953Ser) c.2561A>G (p.Asn854Ser) n.2466A>G n.3377A>G c.*1002A>G (n.*1002A>G) c.*2941A>G (n.*2941A>G) c.*1044A>G (n.*1044A>G) c.*2484A>G (n.*2484A>G) | ClinVar dbSNP |
| 5 | g.132609145A>T | CA360959542 | RAD50 | c.2858A>T (p.Asn953Ile) c.2561A>T (p.Asn854Ile) n.2466A>T n.3377A>T c.*1002A>T (n.*1002A>T) c.*2941A>T (n.*2941A>T) c.*1044A>T (n.*1044A>T) c.*2484A>T (n.*2484A>T) | |
| 5 | g.132609146T>A | CA360959546 | RAD50 | c.2859T>A (p.Asn953Lys) c.2562T>A (p.Asn854Lys) n.2467T>A n.3378T>A c.*1003T>A (n.*1003T>A) c.*2942T>A (n.*2942T>A) c.*1045T>A (n.*1045T>A) c.*2485T>A (n.*2485T>A) | |
| 5 | g.132609146T>C | CA446495079 | RAD50 | c.2859T>C (p.Asn953=) c.2562T>C (p.Asn854=) n.2467T>C n.3378T>C c.*1003T>C (n.*1003T>C) c.*2942T>C (n.*2942T>C) c.*1045T>C (n.*1045T>C) c.*2485T>C (n.*2485T>C) | ClinVar dbSNP |
| 5 | g.132609146T>G | CA360959549 | RAD50 | c.2859T>G (p.Asn953Lys) c.2562T>G (p.Asn854Lys) n.2467T>G n.3378T>G c.*1003T>G (n.*1003T>G) c.*2942T>G (n.*2942T>G) c.*1045T>G (n.*1045T>G) c.*2485T>G (n.*2485T>G) | |
| 5 | g.132609146T= | CA1583229554 | RAD50 | c.2859T= (p.Asn953=) c.2562T= (p.Asn854=) n.2467T= n.3378T= c.*1003T= (n.*1003T=) c.*2942T= (n.*2942T=) c.*1045T= (n.*1045T=) c.*2485T= (n.*2485T=) | |
| 5 | g.132609146_132609150delinsTATTC | CA1583229555 | RAD50 | c.2859_2863delinsTATTC (p.Asn953=) c.2562_2566delinsTATTC (p.Asn854=) n.2467_2471delinsTATTC n.3378_3382delinsTATTC c.*1003_*1007delinsTATTC (n.*1003_*1007delinsTATTC) c.*2942_*2946delinsTATTC (n.*2942_*2946delinsTATTC) c.*1045_*1049delinsTATTC (n.*1045_*1049delinsTATTC) c.*2485_*2489delinsTATTC (n.*2485_*2489delinsTATTC) | |
| 5 | g.132609147A>C | CA360959552 | RAD50 | c.2860A>C (p.Ile954Leu) c.2563A>C (p.Ile855Leu) n.2468A>C n.3379A>C c.*1004A>C (n.*1004A>C) c.*2943A>C (n.*2943A>C) c.*1046A>C (n.*1046A>C) c.*2486A>C (n.*2486A>C) | |
| 5 | g.132609147A>G | CA360959555 | RAD50 | c.2860A>G (p.Ile954Val) c.2563A>G (p.Ile855Val) n.2468A>G n.3379A>G c.*1004A>G (n.*1004A>G) c.*2943A>G (n.*2943A>G) c.*1046A>G (n.*1046A>G) c.*2486A>G (n.*2486A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.132609147A>T | CA360959560 | RAD50 | c.2860A>T (p.Ile954Phe) c.2563A>T (p.Ile855Phe) n.2468A>T n.3379A>T c.*1004A>T (n.*1004A>T) c.*2943A>T (n.*2943A>T) c.*1046A>T (n.*1046A>T) c.*2486A>T (n.*2486A>T) | |
| 5 | g.132609149_132609152del | CA916082770 | RAD50 | c.2862_2865del (p.Ile954MetfsTer4) c.2565_2568del (p.Ile855MetfsTer4) n.2470_2473del n.3381_3384del c.*1006_*1009del (n.*1006_*1009del) c.*2945_*2948del (n.*2945_*2948del) c.*1048_*1051del (n.*1048_*1051del) c.*2488_*2491del (n.*2488_*2491del) | ClinVar dbSNP gnomAD v4 |
| 5 | g.132609148T>A | CA360959562 | RAD50 | c.2861T>A (p.Ile954Asn) c.2564T>A (p.Ile855Asn) n.2469T>A n.3380T>A c.*1005T>A (n.*1005T>A) c.*2944T>A (n.*2944T>A) c.*1047T>A (n.*1047T>A) c.*2487T>A (n.*2487T>A) | |
| 5 | g.132609148T>C | CA360959564 | RAD50 | c.2861T>C (p.Ile954Thr) c.2564T>C (p.Ile855Thr) n.2469T>C n.3380T>C c.*1005T>C (n.*1005T>C) c.*2944T>C (n.*2944T>C) c.*1047T>C (n.*1047T>C) c.*2487T>C (n.*2487T>C) | ClinVar dbSNP |
| 5 | g.132609148T>G | CA360959568 | RAD50 | c.2861T>G (p.Ile954Ser) c.2564T>G (p.Ile855Ser) n.2469T>G n.3380T>G c.*1005T>G (n.*1005T>G) c.*2944T>G (n.*2944T>G) c.*1047T>G (n.*1047T>G) c.*2487T>G (n.*2487T>G) | |
| 5 | g.132609148T= | CA1583229556 | RAD50 | c.2861T= (p.Ile954=) c.2564T= (p.Ile855=) n.2469T= n.3380T= c.*1005T= (n.*1005T=) c.*2944T= (n.*2944T=) c.*1047T= (n.*1047T=) c.*2487T= (n.*2487T=) | |
| 5 | g.132609149T>A | CA446495081 | RAD50 | c.2862T>A (p.Ile954=) c.2565T>A (p.Ile855=) n.2470T>A n.3381T>A c.*1006T>A (n.*1006T>A) c.*2945T>A (n.*2945T>A) c.*1048T>A (n.*1048T>A) c.*2488T>A (n.*2488T>A) | |
| 5 | g.132609149T>C | CA446495082 | RAD50 | c.2862T>C (p.Ile954=) c.2565T>C (p.Ile855=) n.2470T>C n.3381T>C c.*1006T>C (n.*1006T>C) c.*2945T>C (n.*2945T>C) c.*1048T>C (n.*1048T>C) c.*2488T>C (n.*2488T>C) | ClinVar dbSNP |
| 5 | g.132609149T>G | CA360959571 | RAD50 | c.2862T>G (p.Ile954Met) c.2565T>G (p.Ile855Met) n.2470T>G n.3381T>G c.*1006T>G (n.*1006T>G) c.*2945T>G (n.*2945T>G) c.*1048T>G (n.*1048T>G) c.*2488T>G (n.*2488T>G) | |
| 5 | g.132609149T= | CA1583229557 | RAD50 | c.2862T= (p.Ile954=) c.2565T= (p.Ile855=) n.2470T= n.3381T= c.*1006T= (n.*1006T=) c.*2945T= (n.*2945T=) c.*1048T= (n.*1048T=) c.*2488T= (n.*2488T=) | |
| 5 | g.132609150C>A | CA360959574 | RAD50 | c.2863C>A (p.His955Asn) c.2566C>A (p.His856Asn) n.2471C>A n.3382C>A c.*1007C>A (n.*1007C>A) c.*2946C>A (n.*2946C>A) c.*1049C>A (n.*1049C>A) c.*2489C>A (n.*2489C>A) | gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.132609150C>G | CA360959578 | RAD50 | c.2863C>G (p.His955Asp) c.2566C>G (p.His856Asp) n.2471C>G n.3382C>G c.*1007C>G (n.*1007C>G) c.*2946C>G (n.*2946C>G) c.*1049C>G (n.*1049C>G) c.*2489C>G (n.*2489C>G) | ClinVar |
| 5 | g.132609150C>T | CA360959582 | RAD50 | c.2863C>T (p.His955Tyr) c.2566C>T (p.His856Tyr) n.2471C>T n.3382C>T c.*1007C>T (n.*1007C>T) c.*2946C>T (n.*2946C>T) c.*1049C>T (n.*1049C>T) c.*2489C>T (n.*2489C>T) | |
| 5 | g.132609150_132609151delinsCA | CA1583229559 | RAD50 | c.2863_2864delinsCA (p.His955=) c.2566_2567delinsCA (p.His856=) n.2471_2472delinsCA n.3382_3383delinsCA c.*1007_*1008delinsCA (n.*1007_*1008delinsCA) c.*2946_*2947delinsCA (n.*2946_*2947delinsCA) c.*1049_*1050delinsCA (n.*1049_*1050delinsCA) c.*2489_*2490delinsCA (n.*2489_*2490delinsCA) | |
| 5 | g.132609150_132609156delinsCATGGCT | CA1583229558 | RAD50 | c.2863_2869delinsCATGGCT (p.His955=) c.2566_2572delinsCATGGCT (p.His856=) n.2471_2477delinsCATGGCT n.3382_3388delinsCATGGCT c.*1007_*1013delinsCATGGCT (n.*1007_*1013delinsCATGGCT) c.*2946_*2952delinsCATGGCT (n.*2946_*2952delinsCATGGCT) c.*1049_*1055delinsCATGGCT (n.*1049_*1055delinsCATGGCT) c.*2489_*2495delinsCATGGCT (n.*2489_*2495delinsCATGGCT) | |
| 5 | g.132609151del | CA563057400 | RAD50 | c.2864del (p.His955LeufsTer4) c.2567del (p.His856LeufsTer4) n.2472del n.3383del c.*1008del (n.*1008del) c.*2947del (n.*2947del) c.*1050del (n.*1050del) c.*2490del (n.*2490del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.132609151A= | CA1583229560 | RAD50 | c.2864A= (p.His955=) c.2567A= (p.His856=) n.2472A= n.3383A= c.*1008A= (n.*1008A=) c.*2947A= (n.*2947A=) c.*1050A= (n.*1050A=) c.*2490A= (n.*2490A=) | |
| 5 | g.132609151A>C | CA360959593 | RAD50 | c.2864A>C (p.His955Pro) c.2567A>C (p.His856Pro) n.2472A>C n.3383A>C c.*1008A>C (n.*1008A>C) c.*2947A>C (n.*2947A>C) c.*1050A>C (n.*1050A>C) c.*2490A>C (n.*2490A>C) | ClinVar dbSNP |
| 5 | g.132609151A>G | CA360959590 | RAD50 | c.2864A>G (p.His955Arg) c.2567A>G (p.His856Arg) n.2472A>G n.3383A>G c.*1008A>G (n.*1008A>G) c.*2947A>G (n.*2947A>G) c.*1050A>G (n.*1050A>G) c.*2490A>G (n.*2490A>G) | ClinVar dbSNP |