All transcript variants in gene CNKSR2

Information The variants shown are described using the NM_014927.3 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-38C>T r.(=) p.(=) g.21392978C>T Copied from the Exome Variant Server CNKSR2_000001 7/10563 0/6728 7/3835
?/? c.-27G>T r.(=) p.(=) g.21392989G>T Copied from the Exome Variant Server CNKSR2_000002 1/10563 0/6728 1/3835
?/? c.48A>G r.(=) p.(=) g.21393063A>G Copied from the Exome Variant Server CNKSR2_000003 1/10563 0/6728 1/3835
?/? c.64+21G>C r.(=) p.(=) g.21393100G>C Copied from the Exome Variant Server CNKSR2_000004 1/10563 0/6728 1/3835
?/? c.64+28C>G r.(=) p.(=) g.21393107C>G Copied from the Exome Variant Server CNKSR2_000005 1/10563 1/6728 0/3835
?/? c.344G>A r.(?) p.(Arg115Lys) g.21450845G>A Copied from the Exome Variant Server CNKSR2_000006 1/10563 0/6728 1/3835
?/? c.431+12C>T r.(=) p.(=) g.21450944C>T Copied from the Exome Variant Server CNKSR2_000007 1/10563 1/6728 0/3835
?/? c.431+14C>T r.(=) p.(=) g.21450946C>T Copied from the Exome Variant Server CNKSR2_000008 6/10563 0/6728 6/3835
?/? c.477T>C r.(=) p.(=) g.21458857T>C Copied from the Exome Variant Server CNKSR2_000009 1/10562 1/6727 0/3835
?/? c.520-38A>G r.(=) p.(=) g.21488846A>G Copied from the Exome Variant Server CNKSR2_000010 7/10350 5/6613 2/3737
?/? c.520-22G>A r.(=) p.(=) g.21488862G>A Copied from the Exome Variant Server CNKSR2_000011 1/10412 1/6643 0/3769
?/? c.520-12_520-11insT r.(=) p.(=) g.21488872_21488873insT Copied from the Exome Variant Server CNKSR2_000012 16/10077 10/6410 6/3667
?/? c.525T>C r.(=) p.(=) g.21488889T>C Copied from the Exome Variant Server CNKSR2_000013 127/10480 5/6679 122/3801
?/? c.553C>A r.(?) p.(Leu185Ile) g.21488917C>A Copied from the Exome Variant Server CNKSR2_000014 1/10473 0/6675 1/3798
?/? c.562-48A>G r.(=) p.(=) g.21508529A>G Copied from the Exome Variant Server CNKSR2_000015 67/10563 1/6728 66/3835
?/? c.562-46T>A r.(=) p.(=) g.21508531T>A Copied from the Exome Variant Server CNKSR2_000016 1/10563 0/6728 1/3835
?/? c.562-38C>T r.(=) p.(=) g.21508539C>T Copied from the Exome Variant Server CNKSR2_000017 1/10563 0/6728 1/3835
?/? c.562-37G>A r.(=) p.(=) g.21508540G>A Copied from the Exome Variant Server CNKSR2_000018 1/10563 1/6728 0/3835
?/? c.651A>G r.(=) p.(=) g.21508666A>G Copied from the Exome Variant Server CNKSR2_000019 26/10563 8/6728 18/3835
?/? c.672C>T r.(=) p.(=) g.21508687C>T Copied from the Exome Variant Server CNKSR2_000020 1/10561 1/6726 0/3835
?/? c.681+12C>T r.(=) p.(=) g.21508708C>T Copied from the Exome Variant Server CNKSR2_000021 1/10561 0/6726 1/3835
?/? c.681+53del r.(=) p.(=) g.21508749del Copied from the Exome Variant Server CNKSR2_000022 1/10200 0/6481 1/3719
?/? c.741+4A>C r.spl? p.? g.21515968A>C Copied from the Exome Variant Server CNKSR2_000023 1/10558 0/6723 1/3835
?/? c.741+52T>C r.(=) p.(=) g.21516016T>C Copied from the Exome Variant Server CNKSR2_000024 584/6034 459/3617 125/2417
?/? c.742-23C>T r.(=) p.(=) g.21519615C>T Copied from the Exome Variant Server CNKSR2_000025 1/10551 1/6723 0/3828
?/? c.810+14A>T r.(=) p.(=) g.21519720A>T Copied from the Exome Variant Server CNKSR2_000026 1/10556 0/6724 1/3832
?/? c.810+35A>G r.(=) p.(=) g.21519741A>G Copied from the Exome Variant Server CNKSR2_000027 1/10554 1/6724 0/3830
?/? c.852G>C r.(?) p.(Glu284Asp) g.21534644G>C Copied from the Exome Variant Server CNKSR2_000028 1/10563 1/6728 0/3835
?/? c.896G>A r.(?) p.(Ser299Asn) g.21534688G>A Copied from the Exome Variant Server CNKSR2_000029 1/10563 1/6728 0/3835
?/? c.958-37T>C r.(=) p.(=) g.21544948T>C Copied from the Exome Variant Server CNKSR2_000030 1/10563 0/6728 1/3835
?/? c.958-30C>T r.(=) p.(=) g.21544955C>T Copied from the Exome Variant Server CNKSR2_000031 1/10563 0/6728 1/3835
?/? c.958-29G>A r.(=) p.(=) g.21544956G>A Copied from the Exome Variant Server CNKSR2_000032 1/10563 0/6728 1/3835
?/? c.994A>G r.(?) p.(Thr332Ala) g.21545021A>G Copied from the Exome Variant Server CNKSR2_000033 1/10563 1/6728 0/3835
?/? c.1091+16G>A r.(=) p.(=) g.21545134G>A Copied from the Exome Variant Server CNKSR2_000034 1/10561 0/6726 1/3835
?/? c.1115G>A r.(?) p.(Cys372Tyr) g.21549997G>A Copied from the Exome Variant Server CNKSR2_000035 1/10560 1/6727 0/3833
?/? c.1133A>T r.(?) p.(His378Leu) g.21550015A>T Copied from the Exome Variant Server CNKSR2_000036 1/10560 0/6727 1/3833
?/? c.1303+33T>C r.(=) p.(=) g.21550218T>C Copied from the Exome Variant Server CNKSR2_000037 1/10462 1/6668 0/3794
?/? c.1345G>T r.(?) p.(Val449Leu) g.21579630G>T Copied from the Exome Variant Server CNKSR2_000038 1/10563 1/6728 0/3835
?/? c.1393+45T>C r.(=) p.(=) g.21579723T>C Copied from the Exome Variant Server CNKSR2_000039 1/10559 1/6726 0/3833
?/? c.1432G>A r.(?) p.(Ala478Thr) g.21581394G>A Copied from the Exome Variant Server CNKSR2_000040 1/10559 1/6726 0/3833
?/? c.1446C>T r.(=) p.(=) g.21581408C>T Copied from the Exome Variant Server CNKSR2_000041 1/10561 0/6728 1/3833
?/? c.1497G>A r.(=) p.(=) g.21581459G>A Copied from the Exome Variant Server CNKSR2_000042 49/10563 0/6728 49/3835
?/? c.1560G>A r.(=) p.(=) g.21581522G>A Copied from the Exome Variant Server CNKSR2_000043 1/10563 1/6728 0/3835
?/? c.1609-69G>A r.(=) p.(=) g.21608621G>A Copied from the Exome Variant Server CNKSR2_000044 42/3600 0/2391 42/1209
?/? c.1609-47A>T r.(=) p.(=) g.21608643A>T Copied from the Exome Variant Server CNKSR2_000045 2/10558 0/6728 2/3830
?/? c.1609-46T>C r.(=) p.(=) g.21608644T>C Copied from the Exome Variant Server CNKSR2_000046 2/10558 2/6728 0/3830
?/? c.1657+20C>T r.(=) p.(=) g.21608758C>T Copied from the Exome Variant Server CNKSR2_000047 44/10558 41/6725 3/3833
?/? c.1657+74_1657+75del r.(=) p.(=) g.21608812_21608813del Copied from the Exome Variant Server CNKSR2_000048 1/10169 0/6465 1/3704
?/? c.1658-23G>T r.(=) p.(=) g.21609117G>T Copied from the Exome Variant Server CNKSR2_000049 1/10561 1/6726 0/3835
?/? c.1677C>T r.(=) p.(=) g.21609159C>T Copied from the Exome Variant Server CNKSR2_000050 3/10563 3/6728 0/3835
?/? c.1803A>G r.(=) p.(=) g.21609285A>G Copied from the Exome Variant Server CNKSR2_000051 2/10563 0/6728 2/3835
?/? c.1830+28A>G r.(=) p.(=) g.21609340A>G Copied from the Exome Variant Server CNKSR2_000052 1/10560 1/6725 0/3835
?/? c.1830+48C>G r.(=) p.(=) g.21609360C>G Copied from the Exome Variant Server CNKSR2_000053 1/10553 1/6722 0/3831
?/? c.1904+36del r.(=) p.(=) g.21613201del Copied from the Exome Variant Server CNKSR2_000055 368/10155 237/6453 131/3702
?/? c.1904+36dup r.(=) p.(=) g.21613201dup Copied from the Exome Variant Server CNKSR2_000054 259/10155 143/6453 116/3702
?/? c.2044+27T>G r.(=) p.(=) g.21619494T>G Copied from the Exome Variant Server CNKSR2_000056 1/10495 0/6685 1/3810
?/? c.2045-47G>T r.(=) p.(=) g.21624850G>T Copied from the Exome Variant Server CNKSR2_000057 2/10563 1/6728 1/3835
?/? c.2085A>G r.(=) p.(=) g.21624937A>G Copied from the Exome Variant Server CNKSR2_000058 2/10563 2/6728 0/3835
?/? c.2094A>G r.(=) p.(=) g.21624946A>G Copied from the Exome Variant Server CNKSR2_000059 1/10563 0/6728 1/3835
?/? c.2145+14A>C r.(=) p.(=) g.21625011A>C Copied from the Exome Variant Server CNKSR2_000060 3/10563 3/6728 0/3835
?/? c.2145+34G>A r.(=) p.(=) g.21625031G>A Copied from the Exome Variant Server CNKSR2_000061 1/10563 0/6728 1/3835
?/? c.2146-4A>G r.spl? p.? g.21627185A>G Copied from the Exome Variant Server CNKSR2_000062 2/10563 2/6728 0/3835
?/? c.2199G>A r.(=) p.(=) g.21627242G>A Copied from the Exome Variant Server CNKSR2_000063 5/10563 0/6728 5/3835
?/? c.2226T>C r.(=) p.(=) g.21627269T>C Copied from the Exome Variant Server CNKSR2_000064 1/10563 0/6728 1/3835
?/? c.2360T>G r.(?) p.(Leu787Arg) g.21627403T>G Copied from the Exome Variant Server CNKSR2_000065 1/10563 1/6728 0/3835
?/? c.2393C>T r.(?) p.(Ala798Val) g.21627436C>T Copied from the Exome Variant Server CNKSR2_000066 1/10563 1/6728 0/3835
?/? c.2404C>G r.(?) p.(Pro802Ala) g.21627447C>G Copied from the Exome Variant Server CNKSR2_000067 1/10563 0/6728 1/3835
?/? c.2411A>C r.(?) p.(His804Pro) g.21627454A>C Copied from the Exome Variant Server CNKSR2_000068 1/10563 1/6728 0/3835
?/? c.2449C>T r.(=) p.(=) g.21627492C>T Copied from the Exome Variant Server CNKSR2_000069 26/10563 0/6728 26/3835
?/? c.2610C>T r.(=) p.(=) g.21627653C>T Copied from the Exome Variant Server CNKSR2_000070 9/10561 0/6726 9/3835
?/? c.2635_2640del r.(?) p.(Glu885_Glu886del) g.21627678_21627683del Copied from the Exome Variant Server CNKSR2_000071 11/10181 8/6464 3/3717
?/? c.2638_2640del r.(?) p.(Glu886del) g.21627681_21627683del Copied from the Exome Variant Server CNKSR2_000072 432/10181 300/6464 132/3717
?/? c.2693-40_2693-39del r.(=) p.(=) g.21666909_21666910del Copied from the Exome Variant Server CNKSR2_000073 185/9572 93/6234 92/3338
?/? c.2693-38_2693-37del r.(=) p.(=) g.21666911_21666912del Copied from the Exome Variant Server CNKSR2_000074 189/9544 109/6212 80/3332
?/? c.2693-37del r.(=) p.(=) g.21666912del Copied from the Exome Variant Server CNKSR2_000075 323/9556 196/6214 127/3342
?/? c.2693-37_2693-36insTT r.(=) p.(=) g.21666912_21666913insTT Copied from the Exome Variant Server CNKSR2_000076 4237/7349 2961/4866 1276/2483
?/? c.2693-34_2693-33insC r.(=) p.(=) g.21666915_21666916insC Copied from the Exome Variant Server CNKSR2_000077 43/9555 14/6208 29/3347
?/? c.2693-5T>C r.spl? p.? g.21666944T>C Copied from the Exome Variant Server CNKSR2_000078 1/10563 0/6728 1/3835
?/? c.2777A>T r.(?) p.(Glu926Val) g.21667033A>T Copied from the Exome Variant Server CNKSR2_000079 1/10563 1/6728 0/3835
?/? c.2780A>G r.(?) p.(His927Arg) g.21667036A>G Copied from the Exome Variant Server CNKSR2_000080 1/10563 0/6728 1/3835
?/? c.2871T>C r.(=) p.(=) g.21667127T>C Copied from the Exome Variant Server CNKSR2_000081 1/10563 1/6728 0/3835
?/? c.2884T>G r.(?) p.(Leu962Val) g.21667140T>G Copied from the Exome Variant Server CNKSR2_000082 1/10563 1/6728 0/3835
?/? c.2889+13A>G r.(=) p.(=) g.21667158A>G Copied from the Exome Variant Server CNKSR2_000083 1/10556 0/6724 1/3832
?/? c.2890-49G>C r.(=) p.(=) g.21670375G>C Copied from the Exome Variant Server CNKSR2_000084 1/10538 1/6722 0/3816
?/? c.2890-34C>T r.(=) p.(=) g.21670390C>T Copied from the Exome Variant Server CNKSR2_000085 29/10561 0/6728 29/3833
?/? c.2926C>T r.(=) p.(=) g.21670460C>T Copied from the Exome Variant Server CNKSR2_000086 25/10563 0/6728 25/3835
?/? c.2940C>T r.(=) p.(=) g.21670474C>T Copied from the Exome Variant Server CNKSR2_000087 2/10563 0/6728 2/3835
?/? c.2983G>A r.(?) p.(Asp995Asn) g.21670517G>A Copied from the Exome Variant Server CNKSR2_000089 174/10563 5/6728 169/3835
?/? c.2986C>G r.(?) p.(Leu996Val) g.21670520C>G Copied from the Exome Variant Server CNKSR2_000092 1/10563 1/6728 0/3835
?/? c.2998A>G r.(?) p.(Ile1000Val) g.21670532A>G Copied from the Exome Variant Server CNKSR2_000088 2/10563 0/6728 2/3835
?/? c.3011C>T r.(?) p.(Thr1004Ile) g.21670545C>T Copied from the Exome Variant Server CNKSR2_000090 1/10563 1/6728 0/3835
?/? c.3016T>C r.(?) p.(Ser1006Pro) g.21670550T>C Copied from the Exome Variant Server CNKSR2_000091 1/10563 1/6728 0/3835
?/? c.3065C>T r.(?) p.(Ser1022Phe) g.21670599C>T Copied from the Exome Variant Server CNKSR2_000093 1/10563 1/6728 0/3835
?/? c.*5A>T r.(=) p.(=) g.21670644A>T Copied from the Exome Variant Server CNKSR2_000094 1/10563 0/6728 1/3835
?/? c.*39C>A r.(=) p.(=) g.21670678C>A Copied from the Exome Variant Server CNKSR2_000095 1/10563 0/6728 1/3835
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