Unique variants in gene GK

Information The variants shown are described using the NM_000167.5 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-23C>T r.(=) p.(=) g.30671632C>T Copied from the Exome Variant Server GK_000001 1/10551 1/6723 0/3828
1 c.-18C>A r.(=) p.(=) g.30671637C>A Copied from the Exome Variant Server GK_000002 1/10553 1/6724 0/3829
1 c.78+9G>A r.(=) p.(=) g.30671741G>A Copied from the Exome Variant Server GK_000003 2/10559 1/6726 1/3833
1 c.78+32G>C r.(=) p.(=) g.30671764G>C Copied from the Exome Variant Server GK_000004 1/10555 1/6725 0/3830
1 c.152+29C>T r.(=) p.(=) g.30683730C>T Copied from the Exome Variant Server GK_000005 147/10555 1/6724 146/3831
1 c.153-42G>A r.(=) p.(=) g.30686087G>A Copied from the Exome Variant Server GK_000006 12/10558 12/6725 0/3833
1 c.165G>A r.(=) p.(=) g.30686141G>A Copied from the Exome Variant Server GK_000007 559/10558 511/6725 48/3833
1 c.186T>C r.(=) p.(=) g.30686162T>C Copied from the Exome Variant Server GK_000008 50/10556 0/6723 50/3833
1 c.266G>T r.(?) p.(Gly89Val) g.30695498G>T Copied from the Exome Variant Server GK_000009 1/10561 1/6728 0/3833
1 c.332C>T r.(?) p.(Ala111Val) g.30695564C>T Copied from the Exome Variant Server GK_000010 1/10561 1/6728 0/3833
1 c.337+21G>A r.(=) p.(=) g.30695590G>A Copied from the Exome Variant Server GK_000011 1/10561 1/6728 0/3833
1 c.338-27T>C r.(=) p.(=) g.30709213T>C Copied from the Exome Variant Server GK_000012 4/10471 4/6659 0/3812
1 c.372G>A r.(=) p.(=) g.30709274G>A Copied from the Exome Variant Server GK_000013 9/10527 0/6700 9/3827
1 c.415-44T>C r.(=) p.(=) g.30712473T>C Copied from the Exome Variant Server GK_000014 1/10561 1/6728 0/3833
1 c.415-25del r.(=) p.(=) g.30712492del Copied from the Exome Variant Server GK_000015 2/10205 0/6484 2/3721
1 c.415-16T>G r.(=) p.(=) g.30712501T>G Copied from the Exome Variant Server GK_000016 2/10561 0/6728 2/3833
1 c.501C>T r.(=) p.(=) g.30712603C>T Copied from the Exome Variant Server GK_000017 143/10557 0/6724 143/3833
1 c.555T>A r.(?) p.(Ser185Arg) g.30714161T>A Copied from the Exome Variant Server GK_000018 1/10561 1/6728 0/3833
1 c.573T>C r.(=) p.(=) g.30714179T>C Copied from the Exome Variant Server GK_000019 1/10560 0/6727 1/3833
1 c.663-22A>G r.(=) p.(=) g.30714712A>G Copied from the Exome Variant Server GK_000020 1/10543 0/6710 1/3833
1 c.729+17C>A r.(=) p.(=) g.30714817C>A Copied from the Exome Variant Server GK_000021 533/10534 492/6714 41/3820
1 c.729+21del r.(=) p.(=) g.30714821del Copied from the Exome Variant Server GK_000022 15/10168 12/6466 3/3702
1 c.729+40C>A r.(=) p.(=) g.30714840C>A Copied from the Exome Variant Server GK_000023 45/10424 17/6676 28/3748
1 c.729+53del r.(=) p.(=) g.30714853del Copied from the Exome Variant Server GK_000024 124/9643 77/6253 47/3390
1 c.729+67_729+70del r.(=) p.(=) g.30714867_30714870del Copied from the Exome Variant Server GK_000025 2/9326 0/6079 2/3247
1 c.729+963del r.(=) p.(=) g.30715763del Copied from the Exome Variant Server GK_000026 42/10203 28/6482 14/3721
1 c.729+1027C>T r.(=) p.(=) g.30715827C>T Copied from the Exome Variant Server GK_000027 7980/10561 5059/6728 2921/3833
1 c.729+1035C>T r.(=) p.(=) g.30715835C>T Copied from the Exome Variant Server GK_000028 1/10561 1/6728 0/3833
1 c.729+1059A>G r.(=) p.(=) g.30715859A>G Copied from the Exome Variant Server GK_000029 1/10561 1/6728 0/3833
1 c.729+1143G>A r.(=) p.(=) g.30715943G>A Copied from the Exome Variant Server GK_000030 3/3600 2/2391 1/1209
1 c.730-47G>C r.(=) p.(=) g.30718484G>C Copied from the Exome Variant Server GK_000031 67/10558 5/6726 62/3832
1 c.730-36G>T r.(=) p.(=) g.30718495G>T Copied from the Exome Variant Server GK_000032 1/10558 0/6727 1/3831
1 c.730-5A>T r.spl? p.? g.30718526A>T Copied from the Exome Variant Server GK_000033 18/10561 18/6728 0/3833
1 c.730-4T>C r.spl? p.? g.30718527T>C Copied from the Exome Variant Server GK_000034 1/10561 1/6728 0/3833
1 c.765+26C>G r.(=) p.(=) g.30718592C>G Copied from the Exome Variant Server GK_000035 1/10561 1/6728 0/3833
1 c.765+80C>T r.(=) p.(=) g.30718646C>T Copied from the Exome Variant Server GK_000036 1/3600 1/2391 0/1209
1 c.833+16A>T r.(=) p.(=) g.30719038A>T Copied from the Exome Variant Server GK_000037 1/10561 1/6728 0/3833
1 c.834-45C>T r.(=) p.(=) g.30725628C>T Copied from the Exome Variant Server GK_000038 55/10491 52/6672 3/3819
1 c.876+79C>T r.(=) p.(=) g.30725794C>T Copied from the Exome Variant Server GK_000039 2278/3524 1532/2317 746/1207
1 c.877-21_877-20del r.(=) p.(=) g.30726150_30726151del Copied from the Exome Variant Server GK_000040 45/10197 29/6478 16/3719
1 c.877-20del r.(=) p.(=) g.30726151del Copied from the Exome Variant Server GK_000042 335/10197 242/6478 93/3719
1 c.877-20dup r.(=) p.(=) g.30726151dup Copied from the Exome Variant Server GK_000041 272/10197 138/6478 134/3719
1 c.894T>C r.(=) p.(=) g.30726188T>C Copied from the Exome Variant Server GK_000043 1/10558 0/6725 1/3833
1 c.924T>C r.(=) p.(=) g.30726218T>C Copied from the Exome Variant Server GK_000044 1/10558 1/6725 0/3833
1 c.957+31_957+32insGACA r.(=) p.(=) g.30726282_30726283insGACA Copied from the Exome Variant Server GK_000045 1/10198 0/6478 1/3720
1 c.958-56del r.(=) p.(=) g.30736599del Copied from the Exome Variant Server GK_000046 21/10171 15/6462 6/3709
1 c.958-49del r.(=) p.(=) g.30736606del Copied from the Exome Variant Server GK_000047 17/10193 7/6475 10/3718
1 c.989G>A r.(?) p.(Arg330His) g.30736686G>A Copied from the Exome Variant Server GK_000048 1/10561 1/6728 0/3833
1 c.999A>G r.(=) p.(=) g.30736696A>G Copied from the Exome Variant Server GK_000049 9/10559 0/6726 9/3833
1 c.1036+22G>T r.(=) p.(=) g.30736755G>T Copied from the Exome Variant Server GK_000050 536/10556 492/6724 44/3832
1 c.1037-35G>A r.(=) p.(=) g.30737501G>A Copied from the Exome Variant Server GK_000051 1/10547 1/6724 0/3823
1 c.1037-6T>C r.(=) p.(=) g.30737530T>C Copied from the Exome Variant Server GK_000052 1/10557 1/6727 0/3830
1 c.1095G>A r.(=) p.(=) g.30737594G>A Copied from the Exome Variant Server GK_000053 24/10560 0/6727 24/3833
1 c.1134-39A>G r.(=) p.(=) g.30738089A>G Copied from the Exome Variant Server GK_000054 1/10560 1/6728 0/3832
1 c.1134-35C>T r.(=) p.(=) g.30738093C>T Copied from the Exome Variant Server GK_000055 11/10560 10/6728 1/3832
1 c.1134-11C>T r.(=) p.(=) g.30738117C>T Copied from the Exome Variant Server GK_000056 3/10561 0/6728 3/3833
1 c.1336G>A r.(?) p.(Val446Ile) g.30738855G>A Copied from the Exome Variant Server GK_000057 1/10561 1/6728 0/3833
1 c.1339+20T>C r.(=) p.(=) g.30738878T>C Copied from the Exome Variant Server GK_000058 557/10561 510/6728 47/3833
1 c.1340-15A>G r.(=) p.(=) g.30738954A>G Copied from the Exome Variant Server GK_000059 1/10561 1/6728 0/3833
1 c.1381A>T r.(?) p.(Met461Leu) g.30739010A>T Copied from the Exome Variant Server GK_000060 1/10561 0/6728 1/3833
1 c.1405G>A r.(?) p.(Val469Ile) g.30739034G>A Copied from the Exome Variant Server GK_000061 1/10561 1/6728 0/3833
1 c.1431G>A r.(=) p.(=) g.30739060G>A Copied from the Exome Variant Server GK_000062 1/10556 0/6723 1/3833
1 c.1490A>C r.(?) p.(Glu497Ala) g.30742224A>C Copied from the Exome Variant Server GK_000063 1/10560 1/6728 0/3832
1 c.1530A>T r.(=) p.(=) g.30742264A>T Copied from the Exome Variant Server GK_000064 1/10561 1/6728 0/3833
1 c.1564+29C>T r.(=) p.(=) g.30742327C>T Copied from the Exome Variant Server GK_000065 1/10551 1/6722 0/3829
1 c.1564+39G>C r.(=) p.(=) g.30742337G>C Copied from the Exome Variant Server GK_000066 1/10536 1/6710 0/3826
1 c.1565-1256T>C r.(=) p.(=) g.30745593T>C Copied from the Exome Variant Server GK_000067 1/8125 0/5498 1/2627
1 c.1565-40A>G r.(=) p.(=) g.30746809A>G Copied from the Exome Variant Server GK_000068 4/10561 4/6728 0/3833
1 c.*85_*86insTAT r.(=) p.(=) g.30746944_30746945insTAT Copied from the Exome Variant Server GK_000069 1/10151 0/6444 1/3707
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