RYR1 truncating variants in ExAC

RYR1 gene summary
RYR1 variants in

The table below lists the RYR1 truncating variants found in the ExAC population database. Click on each variant for more details, including presence in the 1000 Genomes and Exome Sequencing Project databases, a breakdown by ethnic class and the variant's role in inherited cardiac disease. Use the form below to customise the variant selection. The table can be sorted by variant location, variant type or ExAC frequency.




No. Genomic coord.✝ Variant (CDS)▼ Variant (Protein) Variant Type▼ ExAC frequency▼Populations*
1. 38987106 c.6721C>T p.R2241X nonsense 0.00016602●●●●●●
2. 39055740 c.12766G>T p.E4256X nonsense 0.00011501●●●●●●
3. 38964339 c.4088_4089insG p.Glu1366ArgfsTer10 frameshift 0.00009294●●●●●●
4. 39063948 c.14129+1G>A essential splice site 0.00005145●●●●●●
5. 39027401 c.11602C>T p.Q3868X nonsense 0.00003318●●●●●●
6. 39051787 c.12317delA p.Ile4107SerfsTer15 frameshift 0.00003313●●●●●●
7. 39019059 c.10937+1G>C essential splice site 0.00003302●●●●●●
8. 38996975 c.8574_8575insC p.Asp2861ArgfsTer3 frameshift 0.00003297●●●●●●
9. 39034060 c.11763C>A p.Y3921X nonsense 0.00002471●●●●●●
10. 38995979 c.8341_8342delAT p.Ile2781ArgfsTer49 frameshift 0.00001799●●●●●●
11. 38935318 c.631+1G>T essential splice site 0.00001755●●●●●●
12. 38976774 c.5479delC p.Arg1827AlafsTer24 frameshift 0.00001745●●●●●●
13. 39057599 c.13486G>T p.E4496X nonsense 0.00001745●●●●●●
14. 38956849 c.2989C>T p.R997X nonsense 0.00001693●●●●●●
15. 39025461 c.11359+2T>C essential splice site 0.00001116●●●●●●
16. 38996020 c.8382C>G p.Y2794X nonsense 0.00001006●●●●●●
17. 38931502 c.163C>T p.Q55X nonsense 0.00000965●●●●●●
18. 39019627 c.11071_11075delGAAGA p.Lys3693AlafsTer24 frameshift 0.00000947●●●●●●
19. 38980917 c.6015+1G>A essential splice site 0.00000938●●●●●●
20. 38956906 c.3046C>T p.R1016X nonsense 0.00000903●●●●●●
21. 38943654 c.1440_1440+1insGTGAGGAC p.Gly481ValfsTer10 frameshift 0.00000900●●●●●●
22. 38993182 c.7650delG p.Asn2551ThrfsTer195 frameshift 0.00000895●●●●●●
23. 38954168 c.2682+1G>T essential splice site 0.00000867●●●●●●
24. 39019654 c.11098C>T p.Q3700X nonsense 0.00000863●●●●●●
25. 39075724 c.14788delT p.Leu4930TrpfsTer7 frameshift 0.00000849●●●●●●
26. 38976635 c.5340_5341delCT p.Cys1781PhefsTer76 frameshift 0.00000846●●●●●●
27. 0 c.0_800+2delAGGT essential splice site 0.00000845●●●●●●
28. 38937406 c.798C>T essential splice site 0.00000845●●●●●●
29. 38949970 c.2352delT p.Gly785ValfsTer99 frameshift 0.00000842●●●●●●
30. 39003124 c.9472+1G>A essential splice site 0.00000840●●●●●●
31. 38976372 c.5077delC p.Leu1693CysfsTer79 frameshift 0.00000840●●●●●●
32. 39018426 c.10824+2T>G essential splice site 0.00000833●●●●●●
33. 39008220 c.9907delC p.Cys3304AlafsTer17 frameshift 0.00000833●●●●●●
34. 39025779 c.11360-2A>G essential splice site 0.00000832●●●●●●
35. 39008160 c.9847C>T p.R3283X nonsense 0.00000832●●●●●●
36. 39034410 c.11908-1G>A essential splice site 0.00000831●●●●●●
37. 39058557 c.13659delG p.C4554Afs*142 frameshift 0.00000831●●●●●●
38. 39034409 c.11908-2A>G essential splice site 0.00000831●●●●●●
39. 39009888 c.10053delG p.Glu3352SerfsTer73 frameshift 0.00000830●●●●●●
40. 38990657 c.7323+1G>A essential splice site 0.00000830●●●●●●
41. 38934438 c.424+2T>C essential splice site 0.00000829●●●●●●
42. 39051801 c.12331_12332insT p.Ser4112PhefsTer7 frameshift 0.00000828●●●●●●
43. 38986970 c.6663+1G>A essential splice site 0.00000828●●●●●●
44. 38934434 c.422delC p.Thr141LysfsTer61 frameshift 0.00000828●●●●●●
45. 39014563 c.10449_10450insA p.I3484Nfs*217 frameshift 0.00000828●●●●●●
46. 39014554 c.10441-1G>A essential splice site 0.00000827●●●●●●
47. 38990639 c.7306_7307delTG p.Ala2437ThrfsTer12 frameshift 0.00000827●●●●●●
48. 39051969 c.12499G>T p.E4167X nonsense 0.00000826●●●●●●
49. 38942444 c.1163C>A p.S388X nonsense 0.00000826●●●●●●
50. 39051956 c.12486delC p.L4163Wfs*73 frameshift 0.00000826●●●●●●
51. 38934274 c.345+2T>C essential splice site 0.00000826●●●●●●
52. 39019237 c.10938-2A>C essential splice site 0.00000826●●●●●●
53. 38948716 c.1951C>T p.R651X nonsense 0.00000826●●●●●●
54. 39023173 c.11185_11186insT p.Met3729IlefsTer15 frameshift 0.00000825●●●●●●
55. 38949908 c.2290C>T p.Q764X nonsense 0.00000825●●●●●●
56. 38934788 c.425-1G>A essential splice site 0.00000825●●●●●●
57. 39034298 c.11905C>T p.Q3969X nonsense 0.00000825●●●●●●
58. 38939312 c.981_982delGC p.Arg328GlyfsTer9 frameshift 0.00000825●●●●●●
59. 38937172 c.692delC p.Ile232PhefsTer33 frameshift 0.00000824●●●●●●
60. 38939395 c.1064G>A p.W355X nonsense 0.00000824●●●●●●
61. 38951014 c.2361-1G>T essential splice site 0.00000824●●●●●●
62. 39076643 c.14868+1G>A essential splice site 0.00000824●●●●●●
63. 39070642 c.14385G>A p.W4795X nonsense 0.00000824●●●●●●
64. 38998378 c.8843delC p.Ser2948CysfsTer58 frameshift 0.00000824●●●●●●
65. 39062678 c.13766_13769delGGGA p.Glu4590ThrfsTer57 frameshift 0.00000824●●●●●●
66. 39028564 c.11653C>T p.R3885X nonsense 0.00000824●●●●●●
67. 38995387 c.8068-1G>C essential splice site 0.00000824●●●●●●
68. 38948154 c.1809delC p.Ser604ProfsTer62 frameshift 0.00000824●●●●●●
69. 39001182 c.8977C>T p.Q2993X nonsense 0.00000824●●●●●●
70. 39039019 c.12241_12242delAC p.Thr4081GlyfsTer37 frameshift 0.00000824●●●●●●
71. 39001298 c.9001-2A>G essential splice site 0.00000824●●●●●●
72. 39063824 c.14006delT p.Leu4669ArgfsTer2 frameshift 0.00000824●●●●●●
73. 38980051 c.5782C>T p.Q1928X nonsense 0.00000824●●●●●●
74. 38973719 c.4673_4674insG p.N1559Efs*6 frameshift 0.00000824●●●●●●
75. 38951109 c.2455C>T p.R819X nonsense 0.00000824●●●●●●
76. 39002200 c.9123-1G>C essential splice site 0.00000824●●●●●●
77. 38951103 c.2449C>T p.R817X nonsense 0.00000824●●●●●●
78. 39062747 c.13835G>A p.W4612X nonsense 0.00000824●●●●●●
79. 38981327 c.6082C>T p.R2028X nonsense 0.00000824●●●●●●
80. 38980018 c.5749G>T p.E1917X nonsense 0.00000824●●●●●●

* This highlights the relative frequency of the variant in the ExAC populations - Non-Finnish European, African, East Asian, South Asian, American and Finnish. Higher frequencies are denoted by darker shades of green, variants absent in a population are coloured light gray.

✝ Genomic coordinates refer to the GRCh37 release of the human genome.