All transcript variants in gene ZNF275

Information The variants shown are described using the NM_001080485.3 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-46-28G>A r.(=) p.(=) g.152602064G>A Copied from the Exome Variant Server ZNF275_000068 25/3600 0/2391 25/1209
?/? c.31+75G>C r.(=) p.(=) g.152602243G>C Copied from the Exome Variant Server ZNF275_000067 55/3600 0/2391 55/1209
?/? c.32-2115C>T r.(=) p.(=) g.152608863C>T Copied from the Exome Variant Server ZNF275_000066 13/9603 12/6419 1/3184
?/? c.32-2107G>A r.(=) p.(=) g.152608871G>A Copied from the Exome Variant Server ZNF275_000065 1/9586 1/6418 0/3168
?/? c.32-2106G>C r.(=) p.(=) g.152608872G>C Copied from the Exome Variant Server ZNF275_000063 1/9582 1/6416 0/3166
?/? c.32-2074_32-2072del r.(=) p.(=) g.152608904_152608906del Copied from the Exome Variant Server ZNF275_000064 1/9120 1/6136 0/2984
?/? c.32-2059T>C r.(=) p.(=) g.152608919T>C Copied from the Exome Variant Server ZNF275_000062 10/9456 0/6377 10/3079
?/? c.32-927A>T r.(=) p.(=) g.152610051A>T Copied from the Exome Variant Server ZNF275_000052 6011/9848 3296/6470 2715/3378
?/? c.32-911C>T r.(=) p.(=) g.152610067C>T Copied from the Exome Variant Server ZNF275_000053 4/9836 0/6470 4/3366
?/? c.32-894T>G r.(=) p.(=) g.152610084T>G Copied from the Exome Variant Server ZNF275_000054 1/9797 0/6477 1/3320
?/? c.32-873G>A r.(=) p.(=) g.152610105G>A Copied from the Exome Variant Server ZNF275_000055 4/9846 0/6500 4/3346
?/? c.32-870G>C r.(=) p.(=) g.152610108G>C Copied from the Exome Variant Server ZNF275_000056 6018/9845 3318/6497 2700/3348
?/? c.32-863G>T r.(=) p.(=) g.152610115G>T Copied from the Exome Variant Server ZNF275_000057 2/9805 0/6483 2/3322
?/? c.32-753_32-745del r.(=) p.(=) g.152610225_152610233del Copied from the Exome Variant Server ZNF275_000058 5429/9300 2995/6168 2434/3132
?/? c.32-694G>A r.(=) p.(=) g.152610284G>A Copied from the Exome Variant Server ZNF275_000059 2/9793 2/6485 0/3308
?/? c.32-42T>C r.(=) p.(=) g.152610936T>C Copied from the Exome Variant Server ZNF275_000060 21/9882 0/6520 21/3362
?/? c.32-31T>C r.(=) p.(=) g.152610947T>C Copied from the Exome Variant Server ZNF275_000061 6082/9932 3331/6528 2751/3404
?/? c.34G>A r.(?) p.(Val12Ile) g.152610980G>A Copied from the Exome Variant Server ZNF275_000046 2/10142 2/6576 0/3566
?/? c.39T>C r.(=) p.(=) g.152610985T>C Copied from the Exome Variant Server ZNF275_000047 4081/10156 2017/6580 2064/3576
?/? c.90G>C r.(=) p.(=) g.152611036G>C Copied from the Exome Variant Server ZNF275_000048 1/10355 0/6634 1/3721
?/? c.132T>C r.(=) p.(=) g.152611078T>C Copied from the Exome Variant Server ZNF275_000049 1/10315 0/6632 1/3683
?/? c.133+22G>A r.(=) p.(=) g.152611101G>A Copied from the Exome Variant Server ZNF275_000050 1/10205 1/6589 0/3616
?/? c.134-12T>C r.(=) p.(=) g.152612265T>C Copied from the Exome Variant Server ZNF275_000051 1/10015 1/6521 0/3494
?/? c.145G>A r.(?) p.(Ala49Thr) g.152612288G>A Copied from the Exome Variant Server ZNF275_000036 1/9993 0/6531 1/3462
?/? c.156C>T r.(=) p.(=) g.152612299C>T Copied from the Exome Variant Server ZNF275_000037 1/9971 1/6525 0/3446
?/? c.174T>C r.(=) p.(=) g.152612317T>C Copied from the Exome Variant Server ZNF275_000038 1/9994 1/6530 0/3464
?/? c.195G>A r.(=) p.(=) g.152612338G>A Copied from the Exome Variant Server ZNF275_000039 1/9999 0/6513 1/3486
?/? c.212G>A r.(?) p.(Arg71Lys) g.152612355G>A Copied from the Exome Variant Server ZNF275_000040 1/9974 0/6500 1/3474
?/? c.213G>A r.(=) p.(=) g.152612356G>A Copied from the Exome Variant Server ZNF275_000041 1/9971 0/6497 1/3474
?/? c.225C>A r.(=) p.(=) g.152612368C>A Copied from the Exome Variant Server ZNF275_000042 3/9973 0/6499 3/3474
?/? c.226A>C r.(?) p.(Ser76Arg) g.152612369A>C Copied from the Exome Variant Server ZNF275_000043 1/9979 1/6501 0/3478
?/? c.246C>T r.(=) p.(=) g.152612389C>T Copied from the Exome Variant Server ZNF275_000044 104/9949 0/6503 104/3446
?/? c.256G>A r.(?) p.(Asp86Asn) g.152612399G>A Copied from the Exome Variant Server ZNF275_000045 1/9960 1/6514 0/3446
?/? c.260G>T r.(?) p.(Gly87Val) g.152612403G>T Copied from the Exome Variant Server ZNF275_000028 1/9968 0/6518 1/3450
?/? c.272G>A r.(?) p.(Ser91Asn) g.152612415G>A Copied from the Exome Variant Server ZNF275_000029 1/10011 1/6525 0/3486
?/? c.345G>A r.(=) p.(=) g.152612488G>A Copied from the Exome Variant Server ZNF275_000030 17/10242 0/6599 17/3643
?/? c.414T>C r.(=) p.(=) g.152612557T>C Copied from the Exome Variant Server ZNF275_000031 3/10098 3/6545 0/3553
?/? c.419G>T r.(?) p.(Gly140Val) g.152612562G>T Copied from the Exome Variant Server ZNF275_000032 1/10076 1/6542 0/3534
?/? c.461C>T r.(?) p.(Ala154Val) g.152612604C>T Copied from the Exome Variant Server ZNF275_000033 1/10048 1/6512 0/3536
?/? c.474C>T r.(=) p.(=) g.152612617C>T Copied from the Exome Variant Server ZNF275_000034 1/10010 0/6512 1/3498
?/? c.501C>T r.(=) p.(=) g.152612644C>T Copied from the Exome Variant Server ZNF275_000035 1/10245 0/6580 1/3665
?/? c.549C>T r.(=) p.(=) g.152612692C>T Copied from the Exome Variant Server ZNF275_000008 3/10536 2/6707 1/3829
?/? c.572A>C r.(?) p.(Lys191Thr) g.152612715A>C Copied from the Exome Variant Server ZNF275_000009 1/10544 0/6713 1/3831
?/? c.658G>A r.(?) p.(Val220Ile) g.152612801G>A Copied from the Exome Variant Server ZNF275_000010 40/10479 38/6684 2/3795
?/? c.663C>T r.(=) p.(=) g.152612806C>T Copied from the Exome Variant Server ZNF275_000011 1/10461 0/6678 1/3783
?/? c.722C>T r.(?) p.(Ala241Val) g.152612865C>T Copied from the Exome Variant Server ZNF275_000012 1/10469 0/6686 1/3783
?/? c.743A>G r.(?) p.(Asp248Gly) g.152612886A>G Copied from the Exome Variant Server ZNF275_000013 2/10495 2/6698 0/3797
?/? c.752A>T r.(?) p.(Glu251Val) g.152612895A>T Copied from the Exome Variant Server ZNF275_000014 1/10503 1/6702 0/3801
?/? c.801C>T r.(=) p.(=) g.152612944C>T Copied from the Exome Variant Server ZNF275_000015 3/10524 0/6715 3/3809
?/? c.804C>T r.(=) p.(=) g.152612947C>T Copied from the Exome Variant Server ZNF275_000016 2/10528 2/6713 0/3815
?/? c.818C>G r.(?) p.(Ser273Cys) g.152612961C>G Copied from the Exome Variant Server ZNF275_000017 1/10523 1/6710 0/3813
?/? c.834C>T r.(=) p.(=) g.152612977C>T Copied from the Exome Variant Server ZNF275_000018 1/10519 1/6712 0/3807
?/? c.869C>T r.(?) p.(Ala290Val) g.152613012C>T Copied from the Exome Variant Server ZNF275_000019 1/10504 1/6706 0/3798
?/? c.887C>T r.(?) p.(Pro296Leu) g.152613030C>T Copied from the Exome Variant Server ZNF275_000020 1/10510 0/6704 1/3806
?/? c.888C>T r.(=) p.(=) g.152613031C>T Copied from the Exome Variant Server ZNF275_000021 93/10518 1/6708 92/3810
?/? c.934C>T r.(?) p.(Arg312Trp) g.152613077C>T Copied from the Exome Variant Server ZNF275_000022 1/10552 1/6723 0/3829
?/? c.952G>A r.(?) p.(Glu318Lys) g.152613095G>A Copied from the Exome Variant Server ZNF275_000023 1/10551 0/6720 1/3831
?/? c.963C>T r.(=) p.(=) g.152613106C>T Copied from the Exome Variant Server ZNF275_000024 2/10546 2/6715 0/3831
?/? c.969C>T r.(=) p.(=) g.152613112C>T Copied from the Exome Variant Server ZNF275_000025 6417/10537 3384/6716 3033/3821
?/? c.970G>A r.(?) p.(Gly324Ser) g.152613113G>A Copied from the Exome Variant Server ZNF275_000026 1/10537 1/6716 0/3821
?/? c.970+8C>T r.(=) p.(=) g.152613121C>T Copied from the Exome Variant Server ZNF275_000027 85/10540 1/6716 84/3824
?/? c.970+10G>T r.(=) p.(=) g.152613123G>T Copied from the Exome Variant Server ZNF275_000001 1/10537 1/6715 0/3822
?/? c.970+47C>T r.(=) p.(=) g.152613160C>T Copied from the Exome Variant Server ZNF275_000002 1/10555 1/6722 0/3833
?/? c.*28C>T r.(=) p.(=) g.152613259C>T Copied from the Exome Variant Server ZNF275_000003 5/10538 5/6710 0/3828
?/? c.*82C>T r.(=) p.(=) g.152613313C>T Copied from the Exome Variant Server ZNF275_000004 5/10341 5/6632 0/3709
?/? c.*89A>C r.(=) p.(=) g.152613320A>C Copied from the Exome Variant Server ZNF275_000005 3/10251 2/6575 1/3676
?/? c.*118G>A r.(=) p.(=) g.152613349G>A Copied from the Exome Variant Server ZNF275_000006 4/9951 0/6430 4/3521
?/? c.*146C>T r.(=) p.(=) g.152613377C>T Copied from the Exome Variant Server ZNF275_000007 1/9988 1/6461 0/3527
Legend