Unique variants in gene NHP2

Information The variants shown are described using the NM_017838.3 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-10G>T r.(=) p.(=) g.177580828C>A Copied from the Exome Variant Server NHP2_000046 3/12990 3/8590 0/4400
1 c.60G>C r.(=) p.(=) g.177580759C>G Copied from the Exome Variant Server NHP2_000050 1/13002 1/8600 0/4402
1 c.72C>T r.(=) p.(=) g.177580747G>A Copied from the Exome Variant Server NHP2_000049 2/13004 2/8600 0/4404
1 c.105G>A r.(=) p.(=) g.177580714C>T Copied from the Exome Variant Server NHP2_000048 1/13002 1/8598 0/4404
1 c.109C>T r.(?) p.(Pro37Ser) g.177580710G>A Copied from the Exome Variant Server NHP2_000047 1/13002 1/8598 0/4404
1 c.160+10A>T r.(=) p.(=) g.177580649T>A Copied from the Exome Variant Server NHP2_000045 6/12992 5/8594 1/4398
1 c.160+11C>T r.(=) p.(=) g.177580648G>A Copied from the Exome Variant Server NHP2_000044 17/12996 16/8594 1/4402
1 c.160+16G>C r.(=) p.(=) g.177580643C>G Copied from the Exome Variant Server NHP2_000043 183/13002 101/8600 82/4402
1 c.160+18G>T r.(=) p.(=) g.177580641C>A Copied from the Exome Variant Server NHP2_000042 2/13002 1/8600 1/4402
1 c.161-33C>G r.(=) p.(=) g.177580594G>C Copied from the Exome Variant Server NHP2_000041 1/13006 0/8600 1/4406
1 c.190G>A r.(?) p.(Val64Met) g.177580532C>T Copied from the Exome Variant Server NHP2_000040 9/13006 8/8600 1/4406
1 c.221G>T r.(?) p.(Gly74Val) g.177580501C>A Copied from the Exome Variant Server NHP2_000039 1/13006 0/8600 1/4406
1 c.230+29C>T r.(=) p.(=) g.177580463G>A Copied from the Exome Variant Server NHP2_000038 1/13006 1/8600 0/4406
1 c.230+39C>T r.(=) p.(=) g.177580453G>A Copied from the Exome Variant Server NHP2_000037 5/13006 0/8600 5/4406
1 c.230+54C>G r.(=) p.(=) g.177580438G>C Copied from the Exome Variant Server NHP2_000036 1/4566 1/3182 0/1384
1 c.230+62A>G r.(=) p.(=) g.177580430T>C Copied from the Exome Variant Server NHP2_000035 2/4566 1/3182 1/1384
1 c.231-46_231-45insG r.(=) p.(=) g.177578039_177578040insC Copied from the Exome Variant Server NHP2_000034 15/12518 0/8254 15/4264
1 c.231-39G>A r.(=) p.(=) g.177578033C>T Copied from the Exome Variant Server NHP2_000033 3/13006 0/8600 3/4406
1 c.231-35C>T r.(=) p.(=) g.177578029G>A Copied from the Exome Variant Server NHP2_000032 4/13006 3/8600 1/4406
1 c.231-32G>A r.(=) p.(=) g.177578026C>T Copied from the Exome Variant Server NHP2_000031 3/13006 0/8600 3/4406
1 c.231-28G>A r.(=) p.(=) g.177578022C>T Copied from the Exome Variant Server NHP2_000030 1/13006 0/8600 1/4406
1 c.231-17_231-16del r.(=) p.(=) g.177578010_177578011del Copied from the Exome Variant Server NHP2_000029 13/12518 13/8254 0/4264
1 c.235A>T r.(?) p.(Met79Leu) g.177577990T>A Copied from the Exome Variant Server NHP2_000028 1/13006 0/8600 1/4406
1 c.257T>C r.(?) p.(Leu86Pro) g.177577968A>G Copied from the Exome Variant Server NHP2_000027 1/13006 1/8600 0/4406
1 c.259C>T r.(?) p.(Pro87Ser) g.177577966G>A Copied from the Exome Variant Server NHP2_000026 1/13006 0/8600 1/4406
1 c.270A>G r.(=) p.(=) g.177577955T>C Copied from the Exome Variant Server NHP2_000025 19/13006 2/8600 17/4406
1 c.283C>T r.(?) p.(Pro95Ser) g.177577942G>A Copied from the Exome Variant Server NHP2_000024 1/13006 0/8600 1/4406
1 c.289A>G r.(?) p.(Met97Val) g.177577936T>C Copied from the Exome Variant Server NHP2_000023 1/13006 0/8600 1/4406
1 c.290T>C r.(?) p.(Met97Thr) g.177577935A>G Copied from the Exome Variant Server NHP2_000022 1/13006 0/8600 1/4406
1 c.302G>A r.(?) p.(Arg101Gln) g.177577923C>T Copied from the Exome Variant Server NHP2_000021 98/13006 87/8600 11/4406
1 c.303A>G r.(=) p.(=) g.177577922T>C Copied from the Exome Variant Server NHP2_000020 1/13006 1/8600 0/4406
1 c.324C>T r.(=) p.(=) g.177577901G>A Copied from the Exome Variant Server NHP2_000019 1/13006 1/8600 0/4406
1 c.336+11C>T r.(=) p.(=) g.177577878G>A Copied from the Exome Variant Server NHP2_000018 1/13006 1/8600 0/4406
1 c.336+20del r.(=) p.(=) g.177577869del Copied from the Exome Variant Server NHP2_000017 79/12518 63/8254 16/4264
1 c.336+24C>G r.(=) p.(=) g.177577865G>C Copied from the Exome Variant Server NHP2_000016 1/13006 0/8600 1/4406
1 c.336+49G>T r.(=) p.(=) g.177577840C>A Copied from the Exome Variant Server NHP2_000015 1/13006 0/8600 1/4406
1 c.337-29del r.(=) p.(=) g.177576868del Copied from the Exome Variant Server NHP2_000014 253/12518 182/8254 71/4264
1 c.337-14T>C r.(=) p.(=) g.177576853A>G Copied from the Exome Variant Server NHP2_000013 14/13006 0/8600 14/4406
1 c.337-2A>G r.spl? p.? g.177576841T>C Copied from the Exome Variant Server NHP2_000012 1/13006 1/8600 0/4406
1 c.351C>T r.(=) p.(=) g.177576825G>A Copied from the Exome Variant Server NHP2_000011 160/13006 3/8600 157/4406
1 c.352G>A r.(?) p.(Ala118Thr) g.177576824C>T Copied from the Exome Variant Server NHP2_000010 43/13006 2/8600 41/4406
1 c.356G>A r.(?) p.(Gly119Asp) g.177576820C>T Copied from the Exome Variant Server NHP2_000009 1/13006 0/8600 1/4406
1 c.369C>T r.(=) p.(=) g.177576807G>A Copied from the Exome Variant Server NHP2_000008 2/13006 2/8600 0/4406
1 c.394C>T r.(?) p.(His132Tyr) g.177576782G>A Copied from the Exome Variant Server NHP2_000007 2/13006 2/8600 0/4406
1 c.434A>C r.(?) p.(Glu145Ala) g.177576742T>G Copied from the Exome Variant Server NHP2_000006 1/13006 1/8600 0/4406
1 c.*4G>A r.(=) p.(=) g.177576710C>T Copied from the Exome Variant Server NHP2_000005 2/13002 0/8598 2/4404
1 c.*6T>A r.(=) p.(=) g.177576708A>T Copied from the Exome Variant Server NHP2_000004 4/13002 3/8598 1/4404
1 c.*11T>A r.(=) p.(=) g.177576703A>T Copied from the Exome Variant Server NHP2_000003 45/12982 0/8586 45/4396
1 c.*24C>G r.(=) p.(=) g.177576690G>C Copied from the Exome Variant Server NHP2_000002 3/12890 0/8532 3/4358
1 c.*40A>G r.(=) p.(=) g.177576674T>C Copied from the Exome Variant Server NHP2_000001 5/12906 4/8540 1/4366
Legend