Unique variants in gene NKD1

Information The variants shown are described using the NM_033119.4 transcript reference sequence.

102 entries on 2 pages. Showing entries 1 - 100.
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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.58+45C>A r.(=) p.(=) g.50582705C>A Copied from the Exome Variant Server NKD1_000001 32/7074 31/4730 1/2344
1 c.59-45G>C r.(=) p.(=) g.50583288G>C Copied from the Exome Variant Server NKD1_000002 1/12990 0/8594 1/4396
1 c.59-36G>A r.(=) p.(=) g.50583297G>A Copied from the Exome Variant Server NKD1_000003 36/12994 0/8598 36/4396
1 c.59-35C>T r.(=) p.(=) g.50583298C>T Copied from the Exome Variant Server NKD1_000004 2/12994 0/8598 2/4396
1 c.59-13G>T r.(=) p.(=) g.50583320G>T Copied from the Exome Variant Server NKD1_000005 1/12996 1/8600 0/4396
1 c.72C>T r.(=) p.(=) g.50583346C>T Copied from the Exome Variant Server NKD1_000006 1/12996 1/8600 0/4396
1 c.89del r.(?) p.(Ala30Valfs*30) g.50583363del Copied from the Exome Variant Server NKD1_000007 1/12518 1/8254 0/4264
1 c.91C>T r.(?) p.(Arg31Trp) g.50583365C>T Copied from the Exome Variant Server NKD1_000008 1/12996 1/8600 0/4396
1 c.110_115del r.(?) p.(Ile38_Gly39del) g.50583384_50583389del Copied from the Exome Variant Server NKD1_000009 78/12518 52/8254 26/4264
1 c.150C>T r.(=) p.(=) g.50583424C>T Copied from the Exome Variant Server NKD1_000010 3/12994 2/8598 1/4396
1 c.168G>A r.(=) p.(=) g.50583442G>A Copied from the Exome Variant Server NKD1_000011 14/12994 14/8598 0/4396
1 c.192+19G>A r.(=) p.(=) g.50583485G>A Copied from the Exome Variant Server NKD1_000012 1/12984 0/8594 1/4390
1 c.193-59C>T r.(=) p.(=) g.50642146C>T Copied from the Exome Variant Server NKD1_000013 9/4566 0/3182 9/1384
1 c.193-58G>A r.(=) p.(=) g.50642147G>A Copied from the Exome Variant Server NKD1_000014 1/4566 1/3182 0/1384
1 c.193-44C>T r.(=) p.(=) g.50642161C>T Copied from the Exome Variant Server NKD1_000015 1/12996 0/8600 1/4396
1 c.193-4G>C r.spl? p.? g.50642201G>C Copied from the Exome Variant Server NKD1_000016 7349/12996 4165/8600 3184/4396
1 c.198C>T r.(=) p.(=) g.50642210C>T Copied from the Exome Variant Server NKD1_000017 2/12996 0/8600 2/4396
1 c.199G>A r.(?) p.(Val67Met) g.50642211G>A Copied from the Exome Variant Server NKD1_000018 1/12996 0/8600 1/4396
1 c.229G>A r.(?) p.(Glu77Lys) g.50642241G>A Copied from the Exome Variant Server NKD1_000019 1/12996 1/8600 0/4396
1 c.250C>T r.(?) p.(Arg84Trp) g.50642262C>T Copied from the Exome Variant Server NKD1_000020 1/12996 1/8600 0/4396
1 c.259+7G>A r.(=) p.(=) g.50642278G>A Copied from the Exome Variant Server NKD1_000021 3/12996 3/8600 0/4396
1 c.259+36C>T r.(=) p.(=) g.50642307C>T Copied from the Exome Variant Server NKD1_000022 3/12996 0/8600 3/4396
1 c.259+49C>T r.(=) p.(=) g.50642320C>T Copied from the Exome Variant Server NKD1_000023 30/12996 12/8600 18/4396
1 c.260-28A>G r.(=) p.(=) g.50655485A>G Copied from the Exome Variant Server NKD1_000024 53/12990 49/8600 4/4390
1 c.260-6C>T r.(=) p.(=) g.50655507C>T Copied from the Exome Variant Server NKD1_000025 7/12996 1/8600 6/4396
1 c.260-5G>A r.spl? p.? g.50655508G>A Copied from the Exome Variant Server NKD1_000026 1/12996 0/8600 1/4396
1 c.265C>T r.(=) p.(=) g.50655518C>T Copied from the Exome Variant Server NKD1_000027 2/12996 2/8600 0/4396
1 c.298G>A r.(?) p.(Gly100Arg) g.50655551G>A Copied from the Exome Variant Server NKD1_000028 1/12996 1/8600 0/4396
1 c.304G>A r.(?) p.(Glu102Lys) g.50655557G>A Copied from the Exome Variant Server NKD1_000029 1/12996 1/8600 0/4396
1 c.325A>G r.(?) p.(Ser109Gly) g.50655578A>G Copied from the Exome Variant Server NKD1_000030 1/12992 1/8600 0/4392
1 c.366+16G>A r.(=) p.(=) g.50655635G>A Copied from the Exome Variant Server NKD1_000031 1/12984 1/8598 0/4386
1 c.366+28G>C r.(=) p.(=) g.50655647G>C Copied from the Exome Variant Server NKD1_000032 8/12974 0/8596 8/4378
1 c.367-52G>A r.(=) p.(=) g.50659344G>A Copied from the Exome Variant Server NKD1_000033 1/10300 1/7164 0/3136
1 c.367-27C>A r.(=) p.(=) g.50659369C>A Copied from the Exome Variant Server NKD1_000034 2/12996 2/8600 0/4396
1 c.367-12C>A r.(=) p.(=) g.50659384C>A Copied from the Exome Variant Server NKD1_000035 1/12996 0/8600 1/4396
1 c.367-6A>G r.(=) p.(=) g.50659390A>G Copied from the Exome Variant Server NKD1_000036 1/12996 1/8600 0/4396
1 c.378C>T r.(=) p.(=) g.50659407C>T Copied from the Exome Variant Server NKD1_000037 1/12996 1/8600 0/4396
1 c.379G>A r.(?) p.(Asp127Asn) g.50659408G>A Copied from the Exome Variant Server NKD1_000038 2/12996 2/8600 0/4396
1 c.388A>G r.(?) p.(Met130Val) g.50659417A>G Copied from the Exome Variant Server NKD1_000039 1/12996 1/8600 0/4396
1 c.404G>A r.(?) p.(Arg135Gln) g.50659433G>A Copied from the Exome Variant Server NKD1_000040 3/12996 0/8600 3/4396
1 c.462+40C>T r.(=) p.(=) g.50659531C>T Copied from the Exome Variant Server NKD1_000041 1/12996 1/8600 0/4396
1 c.462+41G>A r.(=) p.(=) g.50659532G>A Copied from the Exome Variant Server NKD1_000042 74/12996 0/8600 74/4396
1 c.462+46C>T r.(=) p.(=) g.50659537C>T Copied from the Exome Variant Server NKD1_000043 1/12992 0/8598 1/4394
1 c.463-52C>G r.(=) p.(=) g.50664045C>G Copied from the Exome Variant Server NKD1_000044 1/5734 1/3982 0/1752
1 c.463-17G>A r.(=) p.(=) g.50664080G>A Copied from the Exome Variant Server NKD1_000045 1/12996 0/8600 1/4396
1 c.463-12C>T r.(=) p.(=) g.50664085C>T Copied from the Exome Variant Server NKD1_000046 1/12996 1/8600 0/4396
1 c.534C>G r.(?) p.(Ser178Arg) g.50664168C>G Copied from the Exome Variant Server NKD1_000047 1/12996 1/8600 0/4396
1 c.544C>T r.(?) p.(Arg182Trp) g.50664178C>T Copied from the Exome Variant Server NKD1_000048 1/12996 1/8600 0/4396
1 c.549A>G r.(=) p.(=) g.50664183A>G Copied from the Exome Variant Server NKD1_000050 1/12996 0/8600 1/4396
1 c.559G>A r.(?) p.(Val187Met) g.50664193G>A Copied from the Exome Variant Server NKD1_000052 1/12996 1/8600 0/4396
1 c.563C>T r.(?) p.(Ala188Val) g.50664197C>T Copied from the Exome Variant Server NKD1_000049 4/12996 0/8600 4/4396
1 c.571G>C r.(?) p.(Gly191Arg) g.50664205G>C Copied from the Exome Variant Server NKD1_000051 2/12996 2/8600 0/4396
1 c.610+34G>A r.(=) p.(=) g.50664278G>A Copied from the Exome Variant Server NKD1_000053 1/12996 1/8600 0/4396
1 c.610+46C>G r.(=) p.(=) g.50664290C>G Copied from the Exome Variant Server NKD1_000054 1/12996 1/8600 0/4396
1 c.611-9C>T r.(=) p.(=) g.50664728C>T Copied from the Exome Variant Server NKD1_000055 13/12950 1/8590 12/4360
1 c.611-8G>A r.(=) p.(=) g.50664729G>A Copied from the Exome Variant Server NKD1_000056 2/12952 1/8592 1/4360
1 c.622G>A r.(?) p.(Ala208Thr) g.50664748G>A Copied from the Exome Variant Server NKD1_000057 2/12958 0/8588 2/4370
1 c.650C>T r.(?) p.(Thr217Ile) g.50664776C>T Copied from the Exome Variant Server NKD1_000058 34/12952 1/8588 33/4364
1 c.657C>T r.(=) p.(=) g.50664783C>T Copied from the Exome Variant Server NKD1_000059 3/12956 3/8590 0/4366
1 c.669_671del r.(?) p.(Glu224del) g.50664795_50664797del Copied from the Exome Variant Server NKD1_000060 1/12476 0/8242 1/4234
1 c.689C>T r.(?) p.(Pro230Leu) g.50664815C>T Copied from the Exome Variant Server NKD1_000061 1/12934 0/8582 1/4352
1 c.695+47T>A r.(=) p.(=) g.50664868T>A Copied from the Exome Variant Server NKD1_000062 3/12818 0/8510 3/4308
1 c.696-42G>A r.(=) p.(=) g.50666150G>A Copied from the Exome Variant Server NKD1_000063 1/12996 0/8600 1/4396
1 c.696-41G>A r.(=) p.(=) g.50666151G>A Copied from the Exome Variant Server NKD1_000064 1/12996 1/8600 0/4396
1 c.696-5C>T r.spl? p.? g.50666187C>T Copied from the Exome Variant Server NKD1_000065 1/12996 1/8600 0/4396
1 c.703G>C r.(?) p.(Gly235Arg) g.50666199G>C Copied from the Exome Variant Server NKD1_000066 2/12996 2/8600 0/4396
1 c.707A>C r.(?) p.(Asp236Ala) g.50666203A>C Copied from the Exome Variant Server NKD1_000067 2/12996 0/8600 2/4396
1 c.713G>A r.(?) p.(Arg238His) g.50666209G>A Copied from the Exome Variant Server NKD1_000068 3/12996 0/8600 3/4396
1 c.745G>A r.(?) p.(Val249Ile) g.50666241G>A Copied from the Exome Variant Server NKD1_000069 1/12996 0/8600 1/4396
1 c.759C>T r.(=) p.(=) g.50666255C>T Copied from the Exome Variant Server NKD1_000070 1/12996 0/8600 1/4396
1 c.807G>A r.(=) p.(=) g.50666303G>A Copied from the Exome Variant Server NKD1_000071 2/12996 1/8600 1/4396
1 c.823+17C>A r.(=) p.(=) g.50666336C>A Copied from the Exome Variant Server NKD1_000072 1/12996 1/8600 0/4396
1 c.823+30G>A r.(=) p.(=) g.50666349G>A Copied from the Exome Variant Server NKD1_000073 2/12996 2/8600 0/4396
1 c.823+35G>T r.(=) p.(=) g.50666354G>T Copied from the Exome Variant Server NKD1_000074 1/12996 1/8600 0/4396
1 c.823+44G>A r.(=) p.(=) g.50666363G>A Copied from the Exome Variant Server NKD1_000075 1/12996 0/8600 1/4396
1 c.824-51G>A r.(=) p.(=) g.50667052G>A Copied from the Exome Variant Server NKD1_000076 125/12988 1/8596 124/4392
1 c.834C>T r.(=) p.(=) g.50667113C>T Copied from the Exome Variant Server NKD1_000077 1/12996 1/8600 0/4396
1 c.862C>T r.(?) p.(Arg288Cys) g.50667141C>T Copied from the Exome Variant Server NKD1_000078 1/12996 1/8600 0/4396
1 c.899C>T r.(?) p.(Pro300Leu) g.50667178C>T Copied from the Exome Variant Server NKD1_000079 1/12996 0/8600 1/4396
1 c.937G>A r.(?) p.(Val313Met) g.50667216G>A Copied from the Exome Variant Server NKD1_000080 2/12996 2/8600 0/4396
1 c.945G>A r.(=) p.(=) g.50667224G>A Copied from the Exome Variant Server NKD1_000081 7/12996 6/8600 1/4396
1 c.971C>A r.(?) p.(Pro324Gln) g.50667250C>A Copied from the Exome Variant Server NKD1_000082 1/12996 1/8600 0/4396
1 c.975C>T r.(=) p.(=) g.50667254C>T Copied from the Exome Variant Server NKD1_000083 1/12996 1/8600 0/4396
1 c.976G>A r.(?) p.(Ala326Thr) g.50667255G>A Copied from the Exome Variant Server NKD1_000084 1/12996 1/8600 0/4396
1 c.995A>C r.(?) p.(Gln332Pro) g.50667274A>C Copied from the Exome Variant Server NKD1_000085 1/12996 1/8600 0/4396
1 c.1000C>T r.(?) p.(Arg334Trp) g.50667279C>T Copied from the Exome Variant Server NKD1_000086 1/12996 1/8600 0/4396
1 c.1020C>T r.(=) p.(=) g.50667299C>T Copied from the Exome Variant Server NKD1_000087 276/12996 258/8600 18/4396
1 c.1068G>C r.(=) p.(=) g.50667347G>C Copied from the Exome Variant Server NKD1_000088 1/12996 0/8600 1/4396
1 c.1080C>T r.(=) p.(=) g.50667359C>T Copied from the Exome Variant Server NKD1_000089 202/12994 1/8598 201/4396
1 c.1119C>T r.(=) p.(=) g.50667398C>T Copied from the Exome Variant Server NKD1_000090 1/12990 1/8594 0/4396
1 c.1120G>A r.(?) p.(Ala374Thr) g.50667399G>A Copied from the Exome Variant Server NKD1_000091 2/12990 1/8594 1/4396
1 c.1130C>G r.(?) p.(Ala377Gly) g.50667409C>G Copied from the Exome Variant Server NKD1_000092 2/12976 2/8590 0/4386
1 c.1131G>A r.(=) p.(=) g.50667410G>A Copied from the Exome Variant Server NKD1_000093 1/12970 1/8586 0/4384
1 c.1178C>G r.(?) p.(Ser393Cys) g.50667457C>G Copied from the Exome Variant Server NKD1_000094 1/12800 0/8482 1/4318
1 c.1214G>A r.(?) p.(Arg405Gln) g.50667493G>A Copied from the Exome Variant Server NKD1_000095 1/12862 0/8512 1/4350
1 c.1224G>C r.(?) p.(Glu408Asp) g.50667503G>C Copied from the Exome Variant Server NKD1_000096 2/12826 2/8484 0/4342
1 c.1234G>A r.(?) p.(Gly412Ser) g.50667513G>A Copied from the Exome Variant Server NKD1_000097 1/12774 0/8454 1/4320
1 c.1240C>T r.(?) p.(Arg414Trp) g.50667519C>T Copied from the Exome Variant Server NKD1_000098 1/12718 0/8416 1/4302
1 c.1287G>A r.(=) p.(=) g.50667566G>A Copied from the Exome Variant Server NKD1_000099 4/12756 4/8450 0/4306
1 c.1293C>T r.(=) p.(=) g.50667572C>T Copied from the Exome Variant Server NKD1_000100 1/12758 0/8456 1/4302
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