Unique variants in gene C2orf16

Information The variants shown are described using the NM_032266.3 transcript reference sequence.

199 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.-46A>G r.(=) p.(=) g.27799394A>G Copied from the Exome Variant Server C2orf16_000001 1/12274 1/8308 0/3966
1 c.-29C>T r.(=) p.(=) g.27799411C>T Copied from the Exome Variant Server C2orf16_000002 1/12230 0/8304 1/3926
1 c.-19C>T r.(=) p.(=) g.27799421C>T Copied from the Exome Variant Server C2orf16_000003 1/12194 1/8288 0/3906
1 c.6_7insCTGA r.(?) p.(Pro5Aspfs*32) g.27799445_27799446insCTGA Copied from the Exome Variant Server C2orf16_000004 1/11622 1/7920 0/3702
1 c.26A>G r.(?) p.(Gln9Arg) g.27799465A>G Copied from the Exome Variant Server C2orf16_000005 2/12072 2/8252 0/3820
1 c.29A>G r.(?) p.(Gln10Arg) g.27799468A>G Copied from the Exome Variant Server C2orf16_000006 1/12060 0/8244 1/3816
1 c.50T>C r.(?) p.(Leu17Ser) g.27799489T>C Copied from the Exome Variant Server C2orf16_000007 9/12052 1/8246 8/3806
1 c.130A>C r.(?) p.(Thr44Pro) g.27799569A>C Copied from the Exome Variant Server C2orf16_000008 1/11984 1/8220 0/3764
1 c.153G>A r.(=) p.(=) g.27799592G>A Copied from the Exome Variant Server C2orf16_000009 1/11928 1/8186 0/3742
1 c.168G>A r.(=) p.(=) g.27799607G>A Copied from the Exome Variant Server C2orf16_000010 1/11924 1/8186 0/3738
1 c.219C>T r.(=) p.(=) g.27799658C>T Copied from the Exome Variant Server C2orf16_000011 1/11982 0/8220 1/3762
1 c.220G>A r.(?) p.(Val74Ile) g.27799659G>A Copied from the Exome Variant Server C2orf16_000012 1/11982 1/8222 0/3760
1 c.329G>C r.(?) p.(Arg110Thr) g.27799768G>C Copied from the Exome Variant Server C2orf16_000013 1/11912 1/8208 0/3704
1 c.334A>C r.(?) p.(Asn112His) g.27799773A>C Copied from the Exome Variant Server C2orf16_000014 130/11906 121/8208 9/3698
1 c.468C>T r.(=) p.(=) g.27799907C>T Copied from the Exome Variant Server C2orf16_000015 1/11962 0/8212 1/3750
1 c.497G>T r.(?) p.(Gly166Val) g.27799936G>T Copied from the Exome Variant Server C2orf16_000016 21/11972 18/8218 3/3754
1 c.634A>G r.(?) p.(Met212Val) g.27800073A>G Copied from the Exome Variant Server C2orf16_000017 1/11978 0/8226 1/3752
1 c.641G>A r.(?) p.(Arg214Lys) g.27800080G>A Copied from the Exome Variant Server C2orf16_000018 1/11970 0/8218 1/3752
1 c.724C>T r.(?) p.(Arg242Trp) g.27800163C>T Copied from the Exome Variant Server C2orf16_000019 5/11996 2/8212 3/3784
1 c.725G>A r.(?) p.(Arg242Gln) g.27800164G>A Copied from the Exome Variant Server C2orf16_000020 1/12016 0/8216 1/3800
1 c.730C>T r.(?) p.(Arg244*) g.27800169C>T Copied from the Exome Variant Server C2orf16_000022 3/12014 3/8216 0/3798
1 c.840C>T r.(=) p.(=) g.27800279C>T Copied from the Exome Variant Server C2orf16_000021 2/12114 2/8274 0/3840
1 c.856C>G r.(?) p.(Gln286Glu) g.27800295C>G Copied from the Exome Variant Server C2orf16_000023 1/12110 1/8264 0/3846
1 c.1001T>G r.(?) p.(Val334Gly) g.27800440T>G Copied from the Exome Variant Server C2orf16_000024 1/12124 1/8274 0/3850
1 c.1054C>T r.(?) p.(Pro352Ser) g.27800493C>T Copied from the Exome Variant Server C2orf16_000025 2/12100 2/8248 0/3852
1 c.1056T>C r.(=) p.(=) g.27800495T>C Copied from the Exome Variant Server C2orf16_000026 1/12090 0/8246 1/3844
1 c.1070G>A r.(?) p.(Arg357Gln) g.27800509G>A Copied from the Exome Variant Server C2orf16_000027 1/12092 1/8250 0/3842
1 c.1075C>T r.(?) p.(Pro359Ser) g.27800514C>T Copied from the Exome Variant Server C2orf16_000028 1/12080 1/8248 0/3832
1 c.1085T>A r.(?) p.(Val362Glu) g.27800524T>A Copied from the Exome Variant Server C2orf16_000029 3/12062 0/8244 3/3818
1 c.1090T>C r.(=) p.(=) g.27800529T>C Copied from the Exome Variant Server C2orf16_000030 1/12072 1/8246 0/3826
1 c.1092G>C r.(?) p.(Leu364Phe) g.27800531G>C Copied from the Exome Variant Server C2orf16_000031 2/12064 1/8242 1/3822
1 c.1116_1120del r.(?) p.(Glu373Asnfs*34) g.27800555_27800559del Copied from the Exome Variant Server C2orf16_000032 2/11566 2/7888 0/3678
1 c.1220G>C r.(?) p.(Cys407Ser) g.27800659G>C Copied from the Exome Variant Server C2orf16_000033 2/11970 1/8226 1/3744
1 c.1258C>G r.(?) p.(Pro420Ala) g.27800697C>G Copied from the Exome Variant Server C2orf16_000034 1/12018 1/8230 0/3788
1 c.1300G>C r.(?) p.(Val434Leu) g.27800739G>C Copied from the Exome Variant Server C2orf16_000035 1/12042 1/8224 0/3818
1 c.1331G>C r.(?) p.(Arg444Thr) g.27800770G>C Copied from the Exome Variant Server C2orf16_000036 1/12030 1/8204 0/3826
1 c.1408C>T r.(?) p.(Arg470*) g.27800847C>T Copied from the Exome Variant Server C2orf16_000037 1/12004 0/8220 1/3784
1 c.1450C>G r.(?) p.(Gln484Glu) g.27800889C>G Copied from the Exome Variant Server C2orf16_000038 1/12036 1/8240 0/3796
1 c.1491A>G r.(=) p.(=) g.27800930A>G Copied from the Exome Variant Server C2orf16_000039 1/12068 1/8252 0/3816
1 c.1514A>T r.(?) p.(Asp505Val) g.27800953A>T Copied from the Exome Variant Server C2orf16_000040 54/12056 1/8252 53/3804
1 c.1535C>T r.(?) p.(Ser512Phe) g.27800974C>T Copied from the Exome Variant Server C2orf16_000041 1/12048 1/8252 0/3796
1 c.1593G>A r.(=) p.(=) g.27801032G>A Copied from the Exome Variant Server C2orf16_000042 36/12074 1/8256 35/3818
1 c.1601C>G r.(?) p.(Pro534Arg) g.27801040C>G Copied from the Exome Variant Server C2orf16_000043 1/12056 1/8246 0/3810
1 c.1609G>A r.(?) p.(Val537Ile) g.27801048G>A Copied from the Exome Variant Server C2orf16_000044 2/12054 0/8244 2/3810
1 c.1655C>G r.(?) p.(Ser552*) g.27801094C>G Copied from the Exome Variant Server C2orf16_000045 1/12094 0/8270 1/3824
1 c.1676G>A r.(?) p.(Cys559Tyr) g.27801115G>A Copied from the Exome Variant Server C2orf16_000046 14/12070 1/8268 13/3802
1 c.1679T>G r.(?) p.(Leu560Trp) g.27801118T>G Copied from the Exome Variant Server C2orf16_000047 1/12068 1/8268 0/3800
1 c.1688T>C r.(?) p.(Val563Ala) g.27801127T>C Copied from the Exome Variant Server C2orf16_000048 319/12042 1/8254 318/3788
1 c.1738_1740del r.(?) p.(Val580del) g.27801177_27801179del Copied from the Exome Variant Server C2orf16_000049 1/11426 0/7844 1/3582
1 c.1762G>C r.(?) p.(Val588Leu) g.27801201G>C Copied from the Exome Variant Server C2orf16_000050 1/11864 1/8166 0/3698
1 c.1842T>C r.(=) p.(=) g.27801281T>C Copied from the Exome Variant Server C2orf16_000051 2/11920 2/8204 0/3716
1 c.1887A>G r.(?) p.(Ile629Met) g.27801326A>G Copied from the Exome Variant Server C2orf16_000052 3/11964 0/8218 3/3746
1 c.1917T>A r.(?) p.(His639Gln) g.27801356T>A Copied from the Exome Variant Server C2orf16_000053 1/11978 1/8232 0/3746
1 c.1964C>G r.(?) p.(Thr655Ser) g.27801403C>G Copied from the Exome Variant Server C2orf16_000054 6701/12004 4085/8236 2616/3768
1 c.1979C>A r.(?) p.(Ala660Glu) g.27801418C>A Copied from the Exome Variant Server C2orf16_000055 6714/12018 4093/8240 2621/3778
1 c.1995G>A r.(=) p.(=) g.27801434G>A Copied from the Exome Variant Server C2orf16_000056 2/12000 0/8228 2/3772
1 c.2054T>C r.(?) p.(Val685Ala) g.27801493T>C Copied from the Exome Variant Server C2orf16_000057 2905/11960 2218/8226 687/3734
1 c.2121C>T r.(=) p.(=) g.27801560C>T Copied from the Exome Variant Server C2orf16_000058 1/11962 0/8216 1/3746
1 c.2132A>G r.(?) p.(Asn711Ser) g.27801571A>G Copied from the Exome Variant Server C2orf16_000059 1/11976 0/8224 1/3752
1 c.2137G>C r.(?) p.(Asp713His) g.27801576G>C Copied from the Exome Variant Server C2orf16_000060 1/11988 0/8232 1/3756
1 c.2215C>T r.(?) p.(Leu739Phe) g.27801654C>T Copied from the Exome Variant Server C2orf16_000061 2/11942 2/8200 0/3742
1 c.2238A>G r.(=) p.(=) g.27801677A>G Copied from the Exome Variant Server C2orf16_000062 1/11912 0/8192 1/3720
1 c.2300T>C r.(?) p.(Ile767Thr) g.27801739T>C Copied from the Exome Variant Server C2orf16_000063 115/11772 2/8152 113/3620
1 c.2320A>G r.(?) p.(Ile774Val) g.27801759A>G Copied from the Exome Variant Server C2orf16_000064 2473/11802 2207/8154 266/3648
1 c.2345T>C r.(?) p.(Ile782Thr) g.27801784T>C Copied from the Exome Variant Server C2orf16_000065 1/11816 0/8166 1/3650
1 c.2362C>T r.(?) p.(Gln788*) g.27801801C>T Copied from the Exome Variant Server C2orf16_000066 2/11830 1/8178 1/3652
1 c.2383G>A r.(?) p.(Ala795Thr) g.27801822G>A Copied from the Exome Variant Server C2orf16_000067 3/11854 0/8180 3/3674
1 c.2393A>G r.(?) p.(Asn798Ser) g.27801832A>G Copied from the Exome Variant Server C2orf16_000068 2/11870 1/8182 1/3688
1 c.2419A>T r.(?) p.(Ile807Phe) g.27801858A>T Copied from the Exome Variant Server C2orf16_000069 2/11910 1/8196 1/3714
1 c.2420T>C r.(?) p.(Ile807Thr) g.27801859T>C Copied from the Exome Variant Server C2orf16_000070 1/11908 0/8196 1/3712
1 c.2462T>C r.(?) p.(Ile821Thr) g.27801901T>C Copied from the Exome Variant Server C2orf16_000071 1/12008 1/8222 0/3786
1 c.2466T>A r.(=) p.(=) g.27801905T>A Copied from the Exome Variant Server C2orf16_000072 3/12016 0/8230 3/3786
1 c.2503G>A r.(?) p.(Glu835Lys) g.27801942G>A Copied from the Exome Variant Server C2orf16_000073 2/12198 0/8306 2/3892
1 c.2526A>G r.(=) p.(=) g.27801965A>G Copied from the Exome Variant Server C2orf16_000074 1/12312 0/8362 1/3950
1 c.2546G>A r.(?) p.(Arg849Gln) g.27801985G>A Copied from the Exome Variant Server C2orf16_000075 2/12400 0/8408 2/3992
1 c.2607C>A r.(=) p.(=) g.27802046C>A Copied from the Exome Variant Server C2orf16_000076 1/12630 1/8458 0/4172
1 c.2648G>A r.(?) p.(Arg883Gln) g.27802087G>A Copied from the Exome Variant Server C2orf16_000077 3/12686 0/8486 3/4200
1 c.2674A>G r.(?) p.(Met892Val) g.27802113A>G Copied from the Exome Variant Server C2orf16_000078 1/12552 1/8428 0/4124
1 c.2706T>C r.(=) p.(=) g.27802145T>C Copied from the Exome Variant Server C2orf16_000079 94/12360 85/8358 9/4002
1 c.2758G>C r.(?) p.(Asp920His) g.27802197G>C Copied from the Exome Variant Server C2orf16_000080 1/12044 1/8270 0/3774
1 c.2767C>G r.(?) p.(Gln923Glu) g.27802206C>G Copied from the Exome Variant Server C2orf16_000081 1/11996 1/8250 0/3746
1 c.2826G>C r.(=) p.(=) g.27802265G>C Copied from the Exome Variant Server C2orf16_000082 10/11844 0/8174 10/3670
1 c.2827C>T r.(?) p.(Pro943Ser) g.27802266C>T Copied from the Exome Variant Server C2orf16_000083 1/11842 1/8174 0/3668
1 c.2839C>A r.(?) p.(Pro947Thr) g.27802278C>A Copied from the Exome Variant Server C2orf16_000084 1/11848 0/8172 1/3676
1 c.2875T>G r.(?) p.(Tyr959Asp) g.27802314T>G Copied from the Exome Variant Server C2orf16_000085 1/11876 1/8180 0/3696
1 c.2885G>A r.(?) p.(Arg962Lys) g.27802324G>A Copied from the Exome Variant Server C2orf16_000086 1/11898 1/8182 0/3716
1 c.2970C>T r.(=) p.(=) g.27802409C>T Copied from the Exome Variant Server C2orf16_000087 1/12236 0/8314 1/3922
1 c.2981G>C r.(?) p.(Arg994Thr) g.27802420G>C Copied from the Exome Variant Server C2orf16_000088 26/12314 25/8334 1/3980
1 c.3009G>A r.(=) p.(=) g.27802448G>A Copied from the Exome Variant Server C2orf16_000089 1/12490 1/8402 0/4088
1 c.3018T>C r.(=) p.(=) g.27802457T>C Copied from the Exome Variant Server C2orf16_000090 125/12522 3/8424 122/4098
1 c.3040C>T r.(?) p.(His1014Tyr) g.27802479C>T Copied from the Exome Variant Server C2orf16_000091 1/12658 1/8472 0/4186
1 c.3066C>T r.(=) p.(=) g.27802505C>T Copied from the Exome Variant Server C2orf16_000093 4/12700 3/8494 1/4206
1 c.3082G>C r.(?) p.(Val1028Leu) g.27802521G>C Copied from the Exome Variant Server C2orf16_000095 1/12692 0/8494 1/4198
1 c.3090A>G r.(=) p.(=) g.27802529A>G Copied from the Exome Variant Server C2orf16_000097 2/12712 0/8498 2/4214
1 c.3188C>A r.(?) p.(Ser1063Tyr) g.27802627C>A Copied from the Exome Variant Server C2orf16_000099 2/12278 0/8330 2/3948
1 c.3192A>T r.(?) p.(Gln1064His) g.27802631A>T Copied from the Exome Variant Server C2orf16_000101 1/12254 1/8320 0/3934
1 c.3231T>G r.(=) p.(=) g.27802670T>G Copied from the Exome Variant Server C2orf16_000092 1/12040 1/8250 0/3790
1 c.3299G>A r.(?) p.(Ser1100Asn) g.27802738G>A Copied from the Exome Variant Server C2orf16_000094 10/12076 0/8266 10/3810
1 c.3312C>T r.(=) p.(=) g.27802751C>T Copied from the Exome Variant Server C2orf16_000096 2/12074 2/8254 0/3820
1 c.3313G>A r.(?) p.(Asp1105Asn) g.27802752G>A Copied from the Exome Variant Server C2orf16_000098 1/12102 1/8260 0/3842
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