All transcript variants in gene ASIC1

Information The variants shown are described using the NM_020039.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.36C>T r.(=) p.(=) g.50452585C>T Copied from the Exome Variant Server ASIC1_000001 1/13006 0/8600 1/4406
?/? c.37G>A r.(?) p.(Val13Ile) g.50452586G>A Copied from the Exome Variant Server ASIC1_000002 1/13006 1/8600 0/4406
?/? c.39C>T r.(=) p.(=) g.50452588C>T Copied from the Exome Variant Server ASIC1_000003 1/13006 0/8600 1/4406
?/? c.78A>G r.(=) p.(=) g.50452627A>G Copied from the Exome Variant Server ASIC1_000004 89/13006 1/8600 88/4406
?/? c.97A>G r.(?) p.(Ile33Val) g.50452646A>G Copied from the Exome Variant Server ASIC1_000005 1/13006 1/8600 0/4406
?/? c.102C>T r.(=) p.(=) g.50452651C>T Copied from the Exome Variant Server ASIC1_000006 3/13006 0/8600 3/4406
?/? c.159C>G N/A N/A g.50452708C>G Copied from the Exome Variant Server ASIC1_000007 12522/13006 8446/8600 4076/4406
?/? c.179T>C r.(?) p.(Val60Ala) g.50452728T>C Copied from the Exome Variant Server ASIC1_000008 1/13006 1/8600 0/4406
?/? c.231C>G r.(=) p.(=) g.50452780C>G Copied from the Exome Variant Server ASIC1_000009 30/13006 0/8600 30/4406
?/? c.288C>T r.(=) p.(=) g.50452837C>T Copied from the Exome Variant Server ASIC1_000010 4/13006 0/8600 4/4406
?/? c.303C>T r.(=) p.(=) g.50452852C>T Copied from the Exome Variant Server ASIC1_000011 1/13006 1/8600 0/4406
?/? c.362+8G>T r.(=) p.(=) g.50452919G>T Copied from the Exome Variant Server ASIC1_000012 1/13006 1/8600 0/4406
?/? c.362+21C>T r.(=) p.(=) g.50452932C>T Copied from the Exome Variant Server ASIC1_000013 2/13004 0/8598 2/4406
?/? c.362+44T>C r.(=) p.(=) g.50452955T>C Copied from the Exome Variant Server ASIC1_000014 2/13006 2/8600 0/4406
?/? c.362+52C>T r.(=) p.(=) g.50452963C>T Copied from the Exome Variant Server ASIC1_000015 1/7272 0/4618 1/2654
?/? c.363-26G>A r.(=) p.(=) g.50453516G>A Copied from the Exome Variant Server ASIC1_000016 2/13006 0/8600 2/4406
?/? c.372del r.(?) p.(Pro125Glnfs*83) g.50453551del Copied from the Exome Variant Server ASIC1_000017 1/12518 1/8254 0/4264
?/? c.468G>A r.(=) p.(=) g.50453647G>A Copied from the Exome Variant Server ASIC1_000018 1/13006 1/8600 0/4406
?/? c.475G>A r.(?) p.(Asp159Asn) g.50453654G>A Copied from the Exome Variant Server ASIC1_000019 1/13006 1/8600 0/4406
?/? c.489C>T r.(=) p.(=) g.50453668C>T Copied from the Exome Variant Server ASIC1_000020 1/13006 1/8600 0/4406
?/? c.558+3G>A r.spl? p.? g.50453740G>A Copied from the Exome Variant Server ASIC1_000021 108/13006 1/8600 107/4406
?/? c.558+13G>A r.(=) p.(=) g.50453750G>A Copied from the Exome Variant Server ASIC1_000022 2/13006 1/8600 1/4406
?/? c.558+20G>A r.(=) p.(=) g.50453757G>A Copied from the Exome Variant Server ASIC1_000023 2/13006 0/8600 2/4406
?/? c.559-49G>A r.(=) p.(=) g.50470947G>A Copied from the Exome Variant Server ASIC1_000024 19/13006 0/8600 19/4406
?/? c.559-23G>A r.(=) p.(=) g.50470973G>A Copied from the Exome Variant Server ASIC1_000025 1/13006 1/8600 0/4406
?/? c.559-8C>T r.(=) p.(=) g.50470988C>T Copied from the Exome Variant Server ASIC1_000026 1/13006 0/8600 1/4406
?/? c.596C>T r.(?) p.(Ser199Leu) g.50471033C>T Copied from the Exome Variant Server ASIC1_000027 1/13006 1/8600 0/4406
?/? c.601C>T r.(?) p.(Arg201*) g.50471038C>T Copied from the Exome Variant Server ASIC1_000028 1/13006 1/8600 0/4406
?/? c.641C>T r.(?) p.(Thr214Met) g.50471078C>T Copied from the Exome Variant Server ASIC1_000029 1/13006 1/8600 0/4406
?/? c.663G>A r.(?) p.(Met221Ile) g.50471100G>A Copied from the Exome Variant Server ASIC1_000030 1/13006 1/8600 0/4406
?/? c.672C>T r.(=) p.(=) g.50471109C>T Copied from the Exome Variant Server ASIC1_000031 440/13006 2/8600 438/4406
?/? c.696G>A r.(=) p.(=) g.50471133G>A Copied from the Exome Variant Server ASIC1_000032 1/13006 0/8600 1/4406
?/? c.709+11C>T r.(=) p.(=) g.50471157C>T Copied from the Exome Variant Server ASIC1_000033 1/13006 0/8600 1/4406
?/? c.709+13C>T r.(=) p.(=) g.50471159C>T Copied from the Exome Variant Server ASIC1_000034 1/13006 1/8600 0/4406
?/? c.711C>T r.(=) p.(=) g.50471784C>T Copied from the Exome Variant Server ASIC1_000035 3/13006 3/8600 0/4406
?/? c.717G>A r.(=) p.(=) g.50471790G>A Copied from the Exome Variant Server ASIC1_000036 2/13006 2/8600 0/4406
?/? c.771C>T r.(=) p.(=) g.50471844C>T Copied from the Exome Variant Server ASIC1_000037 1/13006 1/8600 0/4406
?/? c.774C>T r.(=) p.(=) g.50471847C>T Copied from the Exome Variant Server ASIC1_000038 1/13006 1/8600 0/4406
?/? c.793G>A r.(?) p.(Val265Met) g.50471866G>A Copied from the Exome Variant Server ASIC1_000039 1/13006 1/8600 0/4406
?/? c.837+26C>T r.(=) p.(=) g.50471936C>T Copied from the Exome Variant Server ASIC1_000040 441/13006 2/8600 439/4406
?/? c.837+44G>A r.(=) p.(=) g.50471954G>A Copied from the Exome Variant Server ASIC1_000041 1/13006 0/8600 1/4406
?/? c.838-32G>A r.(=) p.(=) g.50472172G>A Copied from the Exome Variant Server ASIC1_000042 1/13006 1/8600 0/4406
?/? c.838-15C>T r.(=) p.(=) g.50472189C>T Copied from the Exome Variant Server ASIC1_000044 13/13006 0/8600 13/4406
?/? c.872A>G r.(?) p.(Lys291Arg) g.50472238A>G Copied from the Exome Variant Server ASIC1_000046 1/13006 0/8600 1/4406
?/? c.884T>C r.(?) p.(Met295Thr) g.50472250T>C Copied from the Exome Variant Server ASIC1_000048 1/13006 0/8600 1/4406
?/? c.936C>T r.(=) p.(=) g.50472302C>T Copied from the Exome Variant Server ASIC1_000050 1/13006 1/8600 0/4406
?/? c.994+32G>A r.(=) p.(=) g.50472392G>A Copied from the Exome Variant Server ASIC1_000052 5/13006 0/8600 5/4406
?/? c.995-14T>C r.(=) p.(=) g.50472693T>C Copied from the Exome Variant Server ASIC1_000054 1/13006 1/8600 0/4406
?/? c.995-4G>C r.spl? p.? g.50472703G>C Copied from the Exome Variant Server ASIC1_000056 1/13006 1/8600 0/4406
?/? c.1028A>G r.(?) p.(Lys343Arg) g.50472740A>G Copied from the Exome Variant Server ASIC1_000043 2/13006 0/8600 2/4406
?/? c.1051+7G>A r.(=) p.(=) g.50472770G>A Copied from the Exome Variant Server ASIC1_000045 1/13006 1/8600 0/4406
?/? c.1051+28G>A r.(=) p.(=) g.50472791G>A Copied from the Exome Variant Server ASIC1_000047 3/13006 0/8600 3/4406
?/? c.1051+29G>T r.(=) p.(=) g.50472792G>T Copied from the Exome Variant Server ASIC1_000049 7/13006 0/8600 7/4406
?/? c.1052-25A>G r.(=) p.(=) g.50473660A>G Copied from the Exome Variant Server ASIC1_000051 12489/13006 8450/8600 4039/4406
?/? c.1052-14C>G r.(=) p.(=) g.50473671C>G Copied from the Exome Variant Server ASIC1_000053 1/13006 1/8600 0/4406
?/? c.1110C>G r.(=) p.(=) g.50473743C>G Copied from the Exome Variant Server ASIC1_000055 2/13006 1/8600 1/4406
?/? c.1122A>G r.(=) p.(=) g.50473755A>G Copied from the Exome Variant Server ASIC1_000057 624/13006 5/8600 619/4406
?/? c.1206-9C>T r.(=) p.(=) g.50474272C>T Copied from the Exome Variant Server ASIC1_000058 314/13006 2/8600 312/4406
?/? c.1321C>T r.(?) p.(Pro441Ser) g.50474396C>T Copied from the Exome Variant Server ASIC1_000059 1/13006 0/8600 1/4406
?/? c.1334A>G r.(?) p.(His445Arg) g.50474409A>G Copied from the Exome Variant Server ASIC1_000060 117/13006 0/8600 117/4406
?/? c.1344C>T r.(=) p.(=) g.50474419C>T Copied from the Exome Variant Server ASIC1_000061 1/13006 0/8600 1/4406
?/? c.1366_1372del r.(?) p.(Gly457Hisfs*95) g.50474441_50474447del Copied from the Exome Variant Server ASIC1_000062 12/12518 0/8254 12/4264
?/? c.1393G>T r.(?) p.(Gly465Cys) g.50474468G>T Copied from the Exome Variant Server ASIC1_000063 1/13006 1/8600 0/4406
?/? c.1411C>T r.(?) p.(Pro471Ser) g.50474486C>T Copied from the Exome Variant Server ASIC1_000064 1/13006 1/8600 0/4406
?/? c.1435+5G>A r.spl? p.? g.50474515G>A Copied from the Exome Variant Server ASIC1_000065 1/13006 1/8600 0/4406
?/? c.1435+43A>G r.(=) p.(=) g.50474553A>G Copied from the Exome Variant Server ASIC1_000066 1/13004 0/8600 1/4404
?/? c.1436-6C>T r.(=) p.(=) g.50474879C>T Copied from the Exome Variant Server ASIC1_000067 1/12746 1/8436 0/4310
?/? c.1515+35G>C r.(=) p.(=) g.50474999G>C Copied from the Exome Variant Server ASIC1_000068 1/12914 1/8544 0/4370
?/? c.1515+36G>C r.(=) p.(=) g.50475000G>C Copied from the Exome Variant Server ASIC1_000069 7/12914 1/8544 6/4370
?/? c.1516-39C>T r.(=) p.(=) g.50475004C>T Copied from the Exome Variant Server ASIC1_000070 1/12908 1/8542 0/4366
?/? c.1516-21C>G r.(=) p.(=) g.50475022C>G Copied from the Exome Variant Server ASIC1_000071 1/12952 1/8560 0/4392
?/? c.1532T>C r.(?) p.(Leu511Pro) g.50475059T>C Copied from the Exome Variant Server ASIC1_000072 1/12982 1/8598 0/4384
?/? c.1538G>T r.(?) p.(Arg513Leu) g.50475065G>T Copied from the Exome Variant Server ASIC1_000073 1/12980 1/8598 0/4382
?/? c.1557G>A r.(=) p.(=) g.50475084G>A Copied from the Exome Variant Server ASIC1_000074 3/12970 0/8590 3/4380
?/? c.1586G>A r.(?) p.(Gly529Asp) g.50475113G>A Copied from the Exome Variant Server ASIC1_000075 1/12958 1/8586 0/4372
?/? c.1620+10C>A r.(=) p.(=) g.50475157C>A Copied from the Exome Variant Server ASIC1_000076 1/12920 0/8564 1/4356
?/? c.1620+19G>A r.(=) p.(=) g.50475166G>A Copied from the Exome Variant Server ASIC1_000077 1/12868 1/8532 0/4336
?/? c.1620+21G>T r.(=) p.(=) g.50475168G>T Copied from the Exome Variant Server ASIC1_000078 1/12826 0/8498 1/4328
?/? c.1620+22C>T r.(=) p.(=) g.50475169C>T Copied from the Exome Variant Server ASIC1_000079 1/12832 1/8498 0/4334
?/? c.1620+41C>T r.(=) p.(=) g.50475188C>T Copied from the Exome Variant Server ASIC1_000080 3/12600 3/8334 0/4266
?/? c.1620+48G>A r.(=) p.(=) g.50475195G>A Copied from the Exome Variant Server ASIC1_000081 1/12430 0/8214 1/4216
?/? c.1626G>C r.(=) p.(=) g.50475333G>C Copied from the Exome Variant Server ASIC1_000082 1/13006 1/8600 0/4406
?/? c.1704G>A r.(=) p.(=) g.50475411G>A Copied from the Exome Variant Server ASIC1_000083 1/13006 1/8600 0/4406
?/? c.*43A>G r.(=) p.(=) g.50475475A>G Copied from the Exome Variant Server ASIC1_000084 107/13002 0/8596 107/4406
Legend