Unique variants in gene PKNOX1

Information The variants shown are described using the NM_004571.3 transcript reference sequence.

92 entries on 1 page. Showing entries 1 - 92.
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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.-48C>T r.(=) p.(=) g.44424444C>T Copied from the Exome Variant Server PKNOX1_000001 140/13006 128/8600 12/4406
1 c.-32T>C r.(=) p.(=) g.44424460T>C Copied from the Exome Variant Server PKNOX1_000002 1/13006 1/8600 0/4406
1 c.-2C>A r.(=) p.(=) g.44424490C>A Copied from the Exome Variant Server PKNOX1_000003 28/13006 0/8600 28/4406
1 c.19T>C r.(=) p.(=) g.44424510T>C Copied from the Exome Variant Server PKNOX1_000004 1/13006 0/8600 1/4406
1 c.51+48C>T r.(=) p.(=) g.44424590C>T Copied from the Exome Variant Server PKNOX1_000005 1/13006 0/8600 1/4406
1 c.51+57G>A r.(=) p.(=) g.44424599G>A Copied from the Exome Variant Server PKNOX1_000006 2/4566 0/3182 2/1384
1 c.52-47G>A r.(=) p.(=) g.44427554G>A Copied from the Exome Variant Server PKNOX1_000007 4/13006 0/8600 4/4406
1 c.52-44G>A r.(=) p.(=) g.44427557G>A Copied from the Exome Variant Server PKNOX1_000008 64/13006 1/8600 63/4406
1 c.61G>C r.(?) p.(Val21Leu) g.44427610G>C Copied from the Exome Variant Server PKNOX1_000009 1/13006 1/8600 0/4406
1 c.105C>T r.(=) p.(=) g.44427654C>T Copied from the Exome Variant Server PKNOX1_000010 3/13006 0/8600 3/4406
1 c.126T>C r.(=) p.(=) g.44427675T>C Copied from the Exome Variant Server PKNOX1_000011 1/13006 1/8600 0/4406
1 c.138G>A r.(=) p.(=) g.44427687G>A Copied from the Exome Variant Server PKNOX1_000012 1/13006 0/8600 1/4406
1 c.149C>T r.(?) p.(Pro50Leu) g.44427698C>T Copied from the Exome Variant Server PKNOX1_000013 1/13006 1/8600 0/4406
1 c.179+22G>A r.(=) p.(=) g.44427750G>A Copied from the Exome Variant Server PKNOX1_000014 150/13006 136/8600 14/4406
1 c.179+47T>C r.(=) p.(=) g.44427775T>C Copied from the Exome Variant Server PKNOX1_000015 1/13006 1/8600 0/4406
1 c.179+50C>T r.(=) p.(=) g.44427778C>T Copied from the Exome Variant Server PKNOX1_000016 1/13006 0/8600 1/4406
1 c.180-47C>T r.(=) p.(=) g.44430116C>T Copied from the Exome Variant Server PKNOX1_000017 5/13002 2/8598 3/4404
1 c.180-34C>T r.(=) p.(=) g.44430129C>T Copied from the Exome Variant Server PKNOX1_000018 1/13004 0/8600 1/4404
1 c.180-25A>T r.(=) p.(=) g.44430138A>T Copied from the Exome Variant Server PKNOX1_000019 61/13006 1/8600 60/4406
1 c.180-24T>C r.(=) p.(=) g.44430139T>C Copied from the Exome Variant Server PKNOX1_000020 489/13006 455/8600 34/4406
1 c.236A>T r.(?) p.(Gln79Leu) g.44430219A>T Copied from the Exome Variant Server PKNOX1_000021 7/13006 6/8600 1/4406
1 c.309A>C r.(?) p.(Glu103Asp) g.44430292A>C Copied from the Exome Variant Server PKNOX1_000022 1/13006 1/8600 0/4406
1 c.342T>C r.(=) p.(=) g.44430325T>C Copied from the Exome Variant Server PKNOX1_000023 11839/13004 7850/8600 3989/4404
1 c.351+43T>G r.(=) p.(=) g.44430377T>G Copied from the Exome Variant Server PKNOX1_000024 1/12240 1/8164 0/4076
1 c.352-48C>A r.(=) p.(=) g.44433130C>A Copied from the Exome Variant Server PKNOX1_000025 6/13006 6/8600 0/4406
1 c.377G>A r.(?) p.(Arg126His) g.44433203G>A Copied from the Exome Variant Server PKNOX1_000026 5/13006 0/8600 5/4406
1 c.522+22G>A r.(=) p.(=) g.44433370G>A Copied from the Exome Variant Server PKNOX1_000027 1/13006 0/8600 1/4406
1 c.522+40T>C r.(=) p.(=) g.44433388T>C Copied from the Exome Variant Server PKNOX1_000028 1/13006 1/8600 0/4406
1 c.523-42G>A r.(=) p.(=) g.44436976G>A Copied from the Exome Variant Server PKNOX1_000029 1/13006 1/8600 0/4406
1 c.523-37C>T r.(=) p.(=) g.44436981C>T Copied from the Exome Variant Server PKNOX1_000030 23/13006 0/8600 23/4406
1 c.523-36T>C r.(=) p.(=) g.44436982T>C Copied from the Exome Variant Server PKNOX1_000031 4/13006 3/8600 1/4406
1 c.523-11C>T r.(=) p.(=) g.44437007C>T Copied from the Exome Variant Server PKNOX1_000032 13/13006 12/8600 1/4406
1 c.576G>A r.(=) p.(=) g.44437071G>A Copied from the Exome Variant Server PKNOX1_000033 1/13006 1/8600 0/4406
1 c.582C>T r.(=) p.(=) g.44437077C>T Copied from the Exome Variant Server PKNOX1_000034 1/13006 1/8600 0/4406
1 c.583G>A r.(?) p.(Ala195Thr) g.44437078G>A Copied from the Exome Variant Server PKNOX1_000035 2/13006 0/8600 2/4406
1 c.584C>T r.(?) p.(Ala195Val) g.44437079C>T Copied from the Exome Variant Server PKNOX1_000036 4/13006 4/8600 0/4406
1 c.604G>C r.(?) p.(Ala202Pro) g.44437099G>C Copied from the Exome Variant Server PKNOX1_000037 1/13006 1/8600 0/4406
1 c.622+11A>G r.(=) p.(=) g.44437128A>G Copied from the Exome Variant Server PKNOX1_000038 1/13006 1/8600 0/4406
1 c.622+25A>G r.(=) p.(=) g.44437142A>G Copied from the Exome Variant Server PKNOX1_000039 4171/13006 2847/8600 1324/4406
1 c.622+50T>C r.(=) p.(=) g.44437167T>C Copied from the Exome Variant Server PKNOX1_000040 65/13006 0/8600 65/4406
1 c.623-3G>A r.spl? p.? g.44438240G>A Copied from the Exome Variant Server PKNOX1_000041 1/13006 0/8600 1/4406
1 c.628A>C r.(?) p.(Thr210Pro) g.44438248A>C Copied from the Exome Variant Server PKNOX1_000042 5/13006 5/8600 0/4406
1 c.641C>G r.(?) p.(Pro214Arg) g.44438261C>G Copied from the Exome Variant Server PKNOX1_000043 1/13006 0/8600 1/4406
1 c.646A>G r.(?) p.(Thr216Ala) g.44438266A>G Copied from the Exome Variant Server PKNOX1_000044 69/13006 0/8600 69/4406
1 c.647C>T r.(?) p.(Thr216Met) g.44438267C>T Copied from the Exome Variant Server PKNOX1_000045 1/13006 1/8600 0/4406
1 c.648G>A r.(=) p.(=) g.44438268G>A Copied from the Exome Variant Server PKNOX1_000046 3/13006 0/8600 3/4406
1 c.652G>A r.(?) p.(Val218Ile) g.44438272G>A Copied from the Exome Variant Server PKNOX1_000047 2/13006 0/8600 2/4406
1 c.707T>A r.(?) p.(Ile236Asn) g.44438327T>A Copied from the Exome Variant Server PKNOX1_000048 1/13006 1/8600 0/4406
1 c.713A>C r.(?) p.(Asn238Thr) g.44438333A>C Copied from the Exome Variant Server PKNOX1_000049 1/13006 0/8600 1/4406
1 c.720+8C>T r.(=) p.(=) g.44438348C>T Copied from the Exome Variant Server PKNOX1_000050 1/13006 0/8600 1/4406
1 c.720+9del r.(=) p.(=) g.44438349del Copied from the Exome Variant Server PKNOX1_000051 1/12518 1/8254 0/4264
1 c.785A>C r.(?) p.(Lys262Thr) g.44441477A>C Copied from the Exome Variant Server PKNOX1_000052 1/13006 1/8600 0/4406
1 c.793G>A r.(?) p.(Val265Ile) g.44441485G>A Copied from the Exome Variant Server PKNOX1_000053 1/13006 1/8600 0/4406
1 c.813G>A r.(=) p.(=) g.44441505G>A Copied from the Exome Variant Server PKNOX1_000054 1/13006 0/8600 1/4406
1 c.849+12T>C r.(=) p.(=) g.44441553T>C Copied from the Exome Variant Server PKNOX1_000055 80/13006 13/8600 67/4406
1 c.849+41C>T r.(=) p.(=) g.44441582C>T Copied from the Exome Variant Server PKNOX1_000056 1/13006 1/8600 0/4406
1 c.849+44C>T r.(=) p.(=) g.44441585C>T Copied from the Exome Variant Server PKNOX1_000057 1/13006 0/8600 1/4406
1 c.849+45G>A r.(=) p.(=) g.44441586G>A Copied from the Exome Variant Server PKNOX1_000058 36/13006 31/8600 5/4406
1 c.850-58C>T r.(=) p.(=) g.44444923C>T Copied from the Exome Variant Server PKNOX1_000059 1/4566 0/3182 1/1384
1 c.873_874insA r.(?) p.(Gln294Thrfs*55) g.44445004_44445005insA Copied from the Exome Variant Server PKNOX1_000060 1/12518 0/8254 1/4264
1 c.926+9C>A r.(=) p.(=) g.44445066C>A Copied from the Exome Variant Server PKNOX1_000061 6/13006 6/8600 0/4406
1 c.926+34A>G r.(=) p.(=) g.44445091A>G Copied from the Exome Variant Server PKNOX1_000062 2/13006 2/8600 0/4406
1 c.926+39G>A r.(=) p.(=) g.44445096G>A Copied from the Exome Variant Server PKNOX1_000063 24/13006 0/8600 24/4406
1 c.926+47A>T r.(=) p.(=) g.44445104A>T Copied from the Exome Variant Server PKNOX1_000064 2/13006 0/8600 2/4406
1 c.927-49G>C r.(=) p.(=) g.44448763G>C Copied from the Exome Variant Server PKNOX1_000065 4471/13006 3487/8600 984/4406
1 c.927-41C>T r.(=) p.(=) g.44448771C>T Copied from the Exome Variant Server PKNOX1_000066 4/13006 1/8600 3/4406
1 c.927-40G>A r.(=) p.(=) g.44448772G>A Copied from the Exome Variant Server PKNOX1_000067 1/13006 0/8600 1/4406
1 c.927-37G>A r.(=) p.(=) g.44448775G>A Copied from the Exome Variant Server PKNOX1_000068 4475/13006 3486/8600 989/4406
1 c.927-19T>G r.(=) p.(=) g.44448793T>G Copied from the Exome Variant Server PKNOX1_000069 1/13006 0/8600 1/4406
1 c.927-17C>G r.(=) p.(=) g.44448795C>G Copied from the Exome Variant Server PKNOX1_000070 1/13006 1/8600 0/4406
1 c.1019G>A r.(?) p.(Arg340Gln) g.44448904G>A Copied from the Exome Variant Server PKNOX1_000071 1/13006 1/8600 0/4406
1 c.1024G>A r.(?) p.(Val342Ile) g.44448909G>A Copied from the Exome Variant Server PKNOX1_000072 1/13006 1/8600 0/4406
1 c.1035T>C r.(=) p.(=) g.44448920T>C Copied from the Exome Variant Server PKNOX1_000073 1/13006 1/8600 0/4406
1 c.1058G>A r.(?) p.(Gly353Glu) g.44448943G>A Copied from the Exome Variant Server PKNOX1_000074 1/13006 0/8600 1/4406
1 c.1069C>G r.(?) p.(Pro357Ala) g.44448954C>G Copied from the Exome Variant Server PKNOX1_000075 2/13006 0/8600 2/4406
1 c.1073C>T r.(?) p.(Pro358Leu) g.44448958C>T Copied from the Exome Variant Server PKNOX1_000076 1/13006 0/8600 1/4406
1 c.1080C>T r.(=) p.(=) g.44448965C>T Copied from the Exome Variant Server PKNOX1_000077 5/13006 0/8600 5/4406
1 c.1099+7G>T r.(=) p.(=) g.44448991G>T Copied from the Exome Variant Server PKNOX1_000078 4/13006 3/8600 1/4406
1 c.1099+9G>A r.(=) p.(=) g.44448993G>A Copied from the Exome Variant Server PKNOX1_000079 2/13006 2/8600 0/4406
1 c.1099+16C>T r.(=) p.(=) g.44449000C>T Copied from the Exome Variant Server PKNOX1_000080 3/13000 2/8596 1/4404
1 c.1099+22C>T r.(=) p.(=) g.44449006C>T Copied from the Exome Variant Server PKNOX1_000081 1/13000 1/8594 0/4406
1 c.1099+40G>T r.(=) p.(=) g.44449024G>T Copied from the Exome Variant Server PKNOX1_000082 1/12980 1/8586 0/4394
1 c.1100-23G>A r.(=) p.(=) g.44449977G>A Copied from the Exome Variant Server PKNOX1_000083 3/13006 3/8600 0/4406
1 c.1137C>T r.(=) p.(=) g.44450037C>T Copied from the Exome Variant Server PKNOX1_000084 1/13006 1/8600 0/4406
1 c.1138G>A r.(?) p.(Val380Met) g.44450038G>A Copied from the Exome Variant Server PKNOX1_000085 1/13006 0/8600 1/4406
1 c.1212C>T r.(=) p.(=) g.44450112C>T Copied from the Exome Variant Server PKNOX1_000086 2/13006 2/8600 0/4406
1 c.1248G>A r.(=) p.(=) g.44450148G>A Copied from the Exome Variant Server PKNOX1_000087 1/13006 1/8600 0/4406
1 c.1275C>T r.(=) p.(=) g.44450175C>T Copied from the Exome Variant Server PKNOX1_000088 1/13006 1/8600 0/4406
1 c.1276G>A r.(?) p.(Gly426Arg) g.44450176G>A Copied from the Exome Variant Server PKNOX1_000089 1/13006 0/8600 1/4406
1 c.1281G>C r.(=) p.(=) g.44450181G>C Copied from the Exome Variant Server PKNOX1_000090 3/13006 0/8600 3/4406
1 c.*19C>G r.(=) p.(=) g.44450230C>G Copied from the Exome Variant Server PKNOX1_000091 1/13004 1/8600 0/4404
1 c.*26T>A r.(=) p.(=) g.44450237T>A Copied from the Exome Variant Server PKNOX1_000092 8/13000 7/8598 1/4402
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