All transcript variants in gene NAA60

Information The variants shown are described using the NM_024845.2 transcript reference sequence.

53 entries on 1 page. Showing entries 1 - 53.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-6-24C>T r.(=) p.(=) g.3526198C>T Copied from the Exome Variant Server NAA60_000001 2/12866 2/8536 0/4330
?/? c.-6-23G>T r.(=) p.(=) g.3526199G>T Copied from the Exome Variant Server NAA60_000002 1/12862 1/8528 0/4334
?/? c.-6-22_-6-21insC r.(=) p.(=) g.3526200_3526201insC Copied from the Exome Variant Server NAA60_000003 73/12306 25/8154 48/4152
?/? c.23G>T r.(?) p.(Ser8Ile) g.3526250G>T Copied from the Exome Variant Server NAA60_000004 1/12974 0/8584 1/4390
?/? c.24C>T r.(=) p.(=) g.3526251C>T Copied from the Exome Variant Server NAA60_000005 2/12974 0/8584 2/4390
?/? c.26C>T r.(?) p.(Ala9Val) g.3526253C>T Copied from the Exome Variant Server NAA60_000006 1/12976 0/8584 1/4392
?/? c.32G>A r.(?) p.(Ser11Asn) g.3526259G>A Copied from the Exome Variant Server NAA60_000007 2/12982 1/8590 1/4392
?/? c.45G>A r.(=) p.(=) g.3526272G>A Copied from the Exome Variant Server NAA60_000008 1/12978 0/8588 1/4390
?/? c.67A>G r.(?) p.(Ile23Val) g.3526294A>G Copied from the Exome Variant Server NAA60_000009 2/12980 2/8592 0/4388
?/? c.109G>A r.(?) p.(Glu37Lys) g.3526336G>A Copied from the Exome Variant Server NAA60_000010 3/12936 2/8576 1/4360
?/? c.110+11C>T r.(=) p.(=) g.3526348C>T Copied from the Exome Variant Server NAA60_000011 3/12894 2/8560 1/4334
?/? c.110+12G>A r.(=) p.(=) g.3526349G>A Copied from the Exome Variant Server NAA60_000012 1/12884 1/8558 0/4326
?/? c.110+35C>T r.(=) p.(=) g.3526372C>T Copied from the Exome Variant Server NAA60_000013 1/12712 1/8470 0/4242
?/? c.148A>G r.(?) p.(Lys50Glu) g.3529508A>G Copied from the Exome Variant Server NAA60_000014 1/12256 1/8320 0/3936
?/? c.217A>T r.(?) p.(Asn73Tyr) g.3529577A>T Copied from the Exome Variant Server NAA60_000015 1/12398 0/8368 1/4030
?/? c.240+8C>T r.(=) p.(=) g.3529608C>T Copied from the Exome Variant Server NAA60_000016 1/12506 0/8392 1/4114
?/? c.240+42T>C r.(=) p.(=) g.3529642T>C Copied from the Exome Variant Server NAA60_000017 1/12526 1/8390 0/4136
?/? c.240+47C>T r.(=) p.(=) g.3529647C>T Copied from the Exome Variant Server NAA60_000018 6/12526 3/8394 3/4132
?/? c.241-48C>T r.(=) p.(=) g.3532454C>T Copied from the Exome Variant Server NAA60_000019 42/12348 2/8320 40/4028
?/? c.241-47G>A r.(=) p.(=) g.3532455G>A Copied from the Exome Variant Server NAA60_000020 43/12366 2/8330 41/4036
?/? c.241-36G>A r.(=) p.(=) g.3532466G>A Copied from the Exome Variant Server NAA60_000021 2/12418 2/8352 0/4066
?/? c.241-32G>A r.(=) p.(=) g.3532470G>A Copied from the Exome Variant Server NAA60_000022 8/12430 7/8356 1/4074
?/? c.241-13A>G r.(=) p.(=) g.3532489A>G Copied from the Exome Variant Server NAA60_000023 1/12448 1/8372 0/4076
?/? c.244G>A r.(?) p.(Gly82Arg) g.3532505G>A Copied from the Exome Variant Server NAA60_000024 12/12464 12/8378 0/4086
?/? c.259T>G r.(?) p.(Ser87Ala) g.3532520T>G Copied from the Exome Variant Server NAA60_000025 1/12434 1/8386 0/4048
?/? c.261C>T r.(=) p.(=) g.3532522C>T Copied from the Exome Variant Server NAA60_000026 1/12422 0/8384 1/4038
?/? c.279A>G r.(=) p.(=) g.3532540A>G Copied from the Exome Variant Server NAA60_000027 9/12380 9/8364 0/4016
?/? c.285C>T r.(=) p.(=) g.3532546C>T Copied from the Exome Variant Server NAA60_000028 3/12352 0/8352 3/4000
?/? c.288G>T r.(=) p.(=) g.3532549G>T Copied from the Exome Variant Server NAA60_000029 2/12330 0/8352 2/3978
?/? c.306C>T r.(=) p.(=) g.3532567C>T Copied from the Exome Variant Server NAA60_000030 1/12230 0/8316 1/3914
?/? c.324G>A r.(=) p.(=) g.3532585G>A Copied from the Exome Variant Server NAA60_000031 2/12104 0/8266 2/3838
?/? c.337+18C>T r.(=) p.(=) g.3532616C>T Copied from the Exome Variant Server NAA60_000032 2/11890 0/8198 2/3692
?/? c.337+20C>T r.(=) p.(=) g.3532618C>T Copied from the Exome Variant Server NAA60_000033 1/11862 0/8184 1/3678
?/? c.338-37T>C r.(=) p.(=) g.3533326T>C Copied from the Exome Variant Server NAA60_000034 1/12250 1/8302 0/3948
?/? c.354A>G r.(=) p.(=) g.3533379A>G Copied from the Exome Variant Server NAA60_000035 33/12340 30/8332 3/4008
?/? c.487T>A r.(?) p.(Tyr163Asn) g.3533512T>A Copied from the Exome Variant Server NAA60_000036 1/12392 1/8350 0/4042
?/? c.495C>T r.(=) p.(=) g.3533520C>T Copied from the Exome Variant Server NAA60_000037 3/12374 2/8348 1/4026
?/? c.498C>T r.(=) p.(=) g.3533523C>T Copied from the Exome Variant Server NAA60_000038 2/12360 2/8350 0/4010
?/? c.503G>A r.(?) p.(Arg168Gln) g.3533528G>A Copied from the Exome Variant Server NAA60_000039 1/12296 0/8324 1/3972
?/? c.541A>C r.(?) p.(Ile181Leu) g.3533566A>C Copied from the Exome Variant Server NAA60_000040 1/12208 1/8302 0/3906
?/? c.549C>T r.(=) p.(=) g.3533574C>T Copied from the Exome Variant Server NAA60_000041 6/12164 2/8282 4/3882
?/? c.552C>G r.(=) p.(=) g.3533577C>G Copied from the Exome Variant Server NAA60_000042 8625/12204 5636/8300 2989/3904
?/? c.567G>A r.(=) p.(=) g.3533592G>A Copied from the Exome Variant Server NAA60_000043 2/12190 1/8284 1/3906
?/? c.572+17G>A r.(=) p.(=) g.3533614G>A Copied from the Exome Variant Server NAA60_000044 120/12242 1/8296 119/3946
?/? c.572+29_572+30del r.(=) p.(=) g.3533626_3533627del Copied from the Exome Variant Server NAA60_000045 134/11842 4/7962 130/3880
?/? c.572+49G>T r.(=) p.(=) g.3533646G>T Copied from the Exome Variant Server NAA60_000046 2/12456 2/8368 0/4088
?/? c.573-45G>A r.(=) p.(=) g.3534654G>A Copied from the Exome Variant Server NAA60_000047 697/12118 645/8230 52/3888
?/? c.637G>A r.(?) p.(Val213Ile) g.3534763G>A Copied from the Exome Variant Server NAA60_000048 4/12620 4/8442 0/4178
?/? c.654C>G r.(?) p.(His218Gln) g.3534780C>G Copied from the Exome Variant Server NAA60_000049 178/12572 2/8424 176/4148
?/? c.685G>A r.(?) p.(Gly229Ser) g.3534811G>A Copied from the Exome Variant Server NAA60_000050 1/12452 0/8358 1/4094
?/? c.705C>G r.(=) p.(=) g.3534831C>G Copied from the Exome Variant Server NAA60_000051 76/12392 70/8318 6/4074
?/? c.*37G>A r.(=) p.(=) g.3534892G>A Copied from the Exome Variant Server NAA60_000052 7547/11584 5857/7884 1690/3700
?/? c.*44C>T r.(=) p.(=) g.3534899C>T Copied from the Exome Variant Server NAA60_000053 3/11488 0/7838 3/3650
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