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.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.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.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.132609153_132609158del | CA3405469 | RAD50 | c.2866_2871del (p.Gly956_Tyr957del) c.2569_2574del (p.Gly857_Tyr858del) n.2474_2479del n.3385_3390del c.*1010_*1015del (n.*1010_*1015del) c.*2949_*2954del (n.*2949_*2954del) c.*1052_*1057del (n.*1052_*1057del) c.*2492_*2497del (n.*2492_*2497del) | ClinVar dbSNP ExAC |
| 5 | g.132609152T>A | CA360959595 | RAD50 | c.2865T>A (p.His955Gln) c.2568T>A (p.His856Gln) n.2473T>A n.3384T>A c.*1009T>A (n.*1009T>A) c.*2948T>A (n.*2948T>A) c.*1051T>A (n.*1051T>A) c.*2491T>A (n.*2491T>A) | |
| 5 | g.132609152T>C | CA10582386 | RAD50 | c.2865T>C (p.His955=) c.2568T>C (p.His856=) n.2473T>C n.3384T>C c.*1009T>C (n.*1009T>C) c.*2948T>C (n.*2948T>C) c.*1051T>C (n.*1051T>C) c.*2491T>C (n.*2491T>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.132609152T>G | CA360959601 | RAD50 | c.2865T>G (p.His955Gln) c.2568T>G (p.His856Gln) n.2473T>G n.3384T>G c.*1009T>G (n.*1009T>G) c.*2948T>G (n.*2948T>G) c.*1051T>G (n.*1051T>G) c.*2491T>G (n.*2491T>G) | |
| 5 | g.132609152T= | CA1583229561 | RAD50 | c.2865T= (p.His955=) c.2568T= (p.His856=) n.2473T= n.3384T= c.*1009T= (n.*1009T=) c.*2948T= (n.*2948T=) c.*1051T= (n.*1051T=) c.*2491T= (n.*2491T=) | |
| 5 | g.132609153G>A | CA360959610 | RAD50 | c.2866G>A (p.Gly956Ser) c.2569G>A (p.Gly857Ser) n.2474G>A n.3385G>A c.*1010G>A (n.*1010G>A) c.*2949G>A (n.*2949G>A) c.*1052G>A (n.*1052G>A) c.*2492G>A (n.*2492G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.132609153G>C | CA360959611 | RAD50 | c.2866G>C (p.Gly956Arg) c.2569G>C (p.Gly857Arg) n.2474G>C n.3385G>C c.*1010G>C (n.*1010G>C) c.*2949G>C (n.*2949G>C) c.*1052G>C (n.*1052G>C) c.*2492G>C (n.*2492G>C) | |
| 5 | g.132609153G= | CA1583229562 | RAD50 | c.2866G= (p.Gly956=) c.2569G= (p.Gly857=) n.2474G= n.3385G= c.*1010G= (n.*1010G=) c.*2949G= (n.*2949G=) c.*1052G= (n.*1052G=) c.*2492G= (n.*2492G=) | |
| 5 | g.132609153G>T | CA360959614 | RAD50 | c.2866G>T (p.Gly956Cys) c.2569G>T (p.Gly857Cys) n.2474G>T n.3385G>T c.*1010G>T (n.*1010G>T) c.*2949G>T (n.*2949G>T) c.*1052G>T (n.*1052G>T) c.*2492G>T (n.*2492G>T) | |
| 5 | g.132609154dup | CA2573138985 | RAD50 | c.2867dup (p.Tyr957LeufsTer6) c.2570dup (p.Tyr858LeufsTer6) n.2475dup n.3386dup c.*1011dup (n.*1011dup) c.*2950dup (n.*2950dup) c.*1053dup (n.*1053dup) c.*2493dup (n.*2493dup) | ClinVar dbSNP |
| 5 | g.132609154G>A | CA360959616 | RAD50 | c.2867G>A (p.Gly956Asp) c.2570G>A (p.Gly857Asp) n.2475G>A n.3386G>A c.*1011G>A (n.*1011G>A) c.*2950G>A (n.*2950G>A) c.*1053G>A (n.*1053G>A) c.*2493G>A (n.*2493G>A) | |
| 5 | g.132609154G>C | CA360959619 | RAD50 | c.2867G>C (p.Gly956Ala) c.2570G>C (p.Gly857Ala) n.2475G>C n.3386G>C c.*1011G>C (n.*1011G>C) c.*2950G>C (n.*2950G>C) c.*1053G>C (n.*1053G>C) c.*2493G>C (n.*2493G>C) | ClinVar dbSNP |
| 5 | g.132609154G= | CA1583229563 | RAD50 | c.2867G= (p.Gly956=) c.2570G= (p.Gly857=) n.2475G= n.3386G= c.*1011G= (n.*1011G=) c.*2950G= (n.*2950G=) c.*1053G= (n.*1053G=) c.*2493G= (n.*2493G=) | |
| 5 | g.132609154G>T | CA3405470 | RAD50 | c.2867G>T (p.Gly956Val) c.2570G>T (p.Gly857Val) n.2475G>T n.3386G>T c.*1011G>T (n.*1011G>T) c.*2950G>T (n.*2950G>T) c.*1053G>T (n.*1053G>T) c.*2493G>T (n.*2493G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.132609155del | CA2695205203 | RAD50 | c.2868del (p.Tyr957IlefsTer2) c.2571del (p.Tyr858IlefsTer2) n.2476del n.3387del c.*1012del (n.*1012del) c.*2951del (n.*2951del) c.*1054del (n.*1054del) c.*2494del (n.*2494del) | |
| 5 | g.132609155C>A | CA446495085 | RAD50 | c.2868C>A (p.Gly956=) c.2571C>A (p.Gly857=) n.2476C>A n.3387C>A c.*1012C>A (n.*1012C>A) c.*2951C>A (n.*2951C>A) c.*1054C>A (n.*1054C>A) c.*2494C>A (n.*2494C>A) | ClinVar |
| 5 | g.132609155C= | CA1583229564 | RAD50 | c.2868C= (p.Gly956=) c.2571C= (p.Gly857=) n.2476C= n.3387C= c.*1012C= (n.*1012C=) c.*2951C= (n.*2951C=) c.*1054C= (n.*1054C=) c.*2494C= (n.*2494C=) | |
| 5 | g.132609155C>G | CA446495086 | RAD50 | c.2868C>G (p.Gly956=) c.2571C>G (p.Gly857=) n.2476C>G n.3387C>G c.*1012C>G (n.*1012C>G) c.*2951C>G (n.*2951C>G) c.*1054C>G (n.*1054C>G) c.*2494C>G (n.*2494C>G) | |
| 5 | g.132609155C>T | CA446495087 | RAD50 | c.2868C>T (p.Gly956=) c.2571C>T (p.Gly857=) n.2476C>T n.3387C>T c.*1012C>T (n.*1012C>T) c.*2951C>T (n.*2951C>T) c.*1054C>T (n.*1054C>T) c.*2494C>T (n.*2494C>T) | dbSNP gnomAD v2 |
| 5 | g.132609156T>A | CA360959628 | RAD50 | c.2869T>A (p.Tyr957Asn) c.2572T>A (p.Tyr858Asn) n.2477T>A n.3388T>A c.*1013T>A (n.*1013T>A) c.*2952T>A (n.*2952T>A) c.*1055T>A (n.*1055T>A) c.*2495T>A (n.*2495T>A) | |
| 5 | g.132609156T>C | CA360959630 | RAD50 | c.2869T>C (p.Tyr957His) c.2572T>C (p.Tyr858His) n.2477T>C n.3388T>C c.*1013T>C (n.*1013T>C) c.*2952T>C (n.*2952T>C) c.*1055T>C (n.*1055T>C) c.*2495T>C (n.*2495T>C) | ClinVar dbSNP |
| 5 | g.132609156T>G | CA360959631 | RAD50 | c.2869T>G (p.Tyr957Asp) c.2572T>G (p.Tyr858Asp) n.2477T>G n.3388T>G c.*1013T>G (n.*1013T>G) c.*2952T>G (n.*2952T>G) c.*1055T>G (n.*1055T>G) c.*2495T>G (n.*2495T>G) | |
| 5 | g.132609157A= | CA1583229565 | RAD50 | c.2870A= (p.Tyr957=) c.2573A= (p.Tyr858=) n.2478A= n.3389A= c.*1014A= (n.*1014A=) c.*2953A= (n.*2953A=) c.*1056A= (n.*1056A=) c.*2496A= (n.*2496A=) | |
| 5 | g.132609157A>C | CA360959640 | RAD50 | c.2870A>C (p.Tyr957Ser) c.2573A>C (p.Tyr858Ser) n.2478A>C n.3389A>C c.*1014A>C (n.*1014A>C) c.*2953A>C (n.*2953A>C) c.*1056A>C (n.*1056A>C) c.*2496A>C (n.*2496A>C) | |
| 5 | g.132609157A>G | CA3405471 | RAD50 | c.2870A>G (p.Tyr957Cys) c.2573A>G (p.Tyr858Cys) n.2478A>G n.3389A>G c.*1014A>G (n.*1014A>G) c.*2953A>G (n.*2953A>G) c.*1056A>G (n.*1056A>G) c.*2496A>G (n.*2496A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.132609157A>T | CA360959635 | RAD50 | c.2870A>T (p.Tyr957Phe) c.2573A>T (p.Tyr858Phe) n.2478A>T n.3389A>T c.*1014A>T (n.*1014A>T) c.*2953A>T (n.*2953A>T) c.*1056A>T (n.*1056A>T) c.*2496A>T (n.*2496A>T) | ClinVar |
| 5 | g.132609158T>A | CA360959643 | RAD50 | c.2871T>A (p.Tyr957Ter) c.2574T>A (p.Tyr858Ter) n.2479T>A n.3390T>A c.*1015T>A (n.*1015T>A) c.*2954T>A (n.*2954T>A) c.*1057T>A (n.*1057T>A) c.*2497T>A (n.*2497T>A) | |
| 5 | g.132609158T>C | CA446495089 | RAD50 | c.2871T>C (p.Tyr957=) c.2574T>C (p.Tyr858=) n.2479T>C n.3390T>C c.*1015T>C (n.*1015T>C) c.*2954T>C (n.*2954T>C) c.*1057T>C (n.*1057T>C) c.*2497T>C (n.*2497T>C) | |
| 5 | g.132609158T>G | CA360959646 | RAD50 | c.2871T>G (p.Tyr957Ter) c.2574T>G (p.Tyr858Ter) n.2479T>G n.3390T>G c.*1015T>G (n.*1015T>G) c.*2954T>G (n.*2954T>G) c.*1057T>G (n.*1057T>G) c.*2497T>G (n.*2497T>G) | |
| 5 | g.132609159A= | CA1583229566 | RAD50 | c.2872A= (p.Met958=) c.2575A= (p.Met859=) n.2480A= n.3391A= c.*1016A= (n.*1016A=) c.*2955A= (n.*2955A=) c.*1058A= (n.*1058A=) c.*2498A= (n.*2498A=) | |
| 5 | g.132609159A>C | CA360959653 | RAD50 | c.2872A>C (p.Met958Leu) c.2575A>C (p.Met859Leu) n.2480A>C n.3391A>C c.*1016A>C (n.*1016A>C) c.*2955A>C (n.*2955A>C) c.*1058A>C (n.*1058A>C) c.*2498A>C (n.*2498A>C) | |
| 5 | g.132609159A>G | CA3405472 | RAD50 | c.2872A>G (p.Met958Val) c.2575A>G (p.Met859Val) n.2480A>G n.3391A>G c.*1016A>G (n.*1016A>G) c.*2955A>G (n.*2955A>G) c.*1058A>G (n.*1058A>G) c.*2498A>G (n.*2498A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.132609159A>T | CA360959660 | RAD50 | c.2872A>T (p.Met958Leu) c.2575A>T (p.Met859Leu) n.2480A>T n.3391A>T c.*1016A>T (n.*1016A>T) c.*2955A>T (n.*2955A>T) c.*1058A>T (n.*1058A>T) c.*2498A>T (n.*2498A>T) | |
| 5 | g.132609161_132609169del | CA2578402807 | RAD50 | c.2874_2882del (p.Met958_Asp960del) c.2577_2585del (p.Met859_Asp861del) n.2482_2490del n.3393_3401del c.*1018_*1026del (n.*1018_*1026del) c.*2957_*2965del (n.*2957_*2965del) c.*1060_*1068del (n.*1060_*1068del) c.*2500_*2508del (n.*2500_*2508del) | |
| 5 | g.132609160T>A | CA360959677 | RAD50 | c.2873T>A (p.Met958Lys) c.2576T>A (p.Met859Lys) n.2481T>A n.3392T>A c.*1017T>A (n.*1017T>A) c.*2956T>A (n.*2956T>A) c.*1059T>A (n.*1059T>A) c.*2499T>A (n.*2499T>A) | |
| 5 | g.132609160T>C | CA360959675 | RAD50 | c.2873T>C (p.Met958Thr) c.2576T>C (p.Met859Thr) n.2481T>C n.3392T>C c.*1017T>C (n.*1017T>C) c.*2956T>C (n.*2956T>C) c.*1059T>C (n.*1059T>C) c.*2499T>C (n.*2499T>C) | |
| 5 | g.132609160T>G | CA360959671 | RAD50 | c.2873T>G (p.Met958Arg) c.2576T>G (p.Met859Arg) n.2481T>G n.3392T>G c.*1017T>G (n.*1017T>G) c.*2956T>G (n.*2956T>G) c.*1059T>G (n.*1059T>G) c.*2499T>G (n.*2499T>G) | ClinVar |
| 5 | g.132609161G>A | CA360959681 | RAD50 | c.2874G>A (p.Met958Ile) c.2577G>A (p.Met859Ile) n.2482G>A n.3393G>A c.*1018G>A (n.*1018G>A) c.*2957G>A (n.*2957G>A) c.*1060G>A (n.*1060G>A) c.*2500G>A (n.*2500G>A) | ClinVar |
| 5 | g.132609161G>C | CA360959682 | RAD50 | c.2874G>C (p.Met958Ile) c.2577G>C (p.Met859Ile) n.2482G>C n.3393G>C c.*1018G>C (n.*1018G>C) c.*2957G>C (n.*2957G>C) c.*1060G>C (n.*1060G>C) c.*2500G>C (n.*2500G>C) | |
| 5 | g.132609161G>T | CA360959684 | RAD50 | c.2874G>T (p.Met958Ile) c.2577G>T (p.Met859Ile) n.2482G>T n.3393G>T c.*1018G>T (n.*1018G>T) c.*2957G>T (n.*2957G>T) c.*1060G>T (n.*1060G>T) c.*2500G>T (n.*2500G>T) | |
| 5 | g.132609161_132609163delinsGAA | CA1583229567 | RAD50 | c.2874_2876delinsGAA (p.Met958=) c.2577_2579delinsGAA (p.Met859=) n.2482_2484delinsGAA n.3393_3395delinsGAA c.*1018_*1020delinsGAA (n.*1018_*1020delinsGAA) c.*2957_*2959delinsGAA (n.*2957_*2959delinsGAA) c.*1060_*1062delinsGAA (n.*1060_*1062delinsGAA) c.*2500_*2502delinsGAA (n.*2500_*2502delinsGAA) | |
| 5 | g.132609162A>C | CA360959693 | RAD50 | c.2875A>C (p.Lys959Gln) c.2578A>C (p.Lys860Gln) n.2483A>C n.3394A>C c.*1019A>C (n.*1019A>C) c.*2958A>C (n.*2958A>C) c.*1061A>C (n.*1061A>C) c.*2501A>C (n.*2501A>C) | |
| 5 | g.132609162A>G | CA360959695 | RAD50 | c.2875A>G (p.Lys959Glu) c.2578A>G (p.Lys860Glu) n.2483A>G n.3394A>G c.*1019A>G (n.*1019A>G) c.*2958A>G (n.*2958A>G) c.*1061A>G (n.*1061A>G) c.*2501A>G (n.*2501A>G) | |
| 5 | g.132609162A>T | CA360959698 | RAD50 | c.2875A>T (p.Lys959Ter) c.2578A>T (p.Lys860Ter) n.2483A>T n.3394A>T c.*1019A>T (n.*1019A>T) c.*2958A>T (n.*2958A>T) c.*1061A>T (n.*1061A>T) c.*2501A>T (n.*2501A>T) | |
| 5 | g.132609163_132609164del | CA915942550 | RAD50 | c.2876_2877del (p.Lys959ArgfsTer3) c.2579_2580del (p.Lys860ArgfsTer3) n.2484_2485del n.3395_3396del c.*1020_*1021del (n.*1020_*1021del) c.*2959_*2960del (n.*2959_*2960del) c.*1062_*1063del (n.*1062_*1063del) c.*2502_*2503del (n.*2502_*2503del) | ClinVar dbSNP |
| 5 | g.132609163A>C | CA360959702 | RAD50 | c.2876A>C (p.Lys959Thr) c.2579A>C (p.Lys860Thr) n.2484A>C n.3395A>C c.*1020A>C (n.*1020A>C) c.*2959A>C (n.*2959A>C) c.*1062A>C (n.*1062A>C) c.*2502A>C (n.*2502A>C) | |
| 5 | g.132609163A>G | CA360959708 | RAD50 | c.2876A>G (p.Lys959Arg) c.2579A>G (p.Lys860Arg) n.2484A>G n.3395A>G c.*1020A>G (n.*1020A>G) c.*2959A>G (n.*2959A>G) c.*1062A>G (n.*1062A>G) c.*2502A>G (n.*2502A>G) |