Unique variants in gene CDH16

Information The variants shown are described using the NM_004062.3 transcript reference sequence.

192 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.18G>A r.(=) p.(=) g.66951951C>T Copied from the Exome Variant Server CDH16_000192 2/12966 2/8592 0/4374
1 c.41C>T r.(?) p.(Pro14Leu) g.66951928G>A Copied from the Exome Variant Server CDH16_000191 5/12948 5/8584 0/4364
1 c.45+36G>A r.(=) p.(=) g.66951888C>T Copied from the Exome Variant Server CDH16_000190 1/12944 0/8576 1/4368
1 c.45+46del r.(=) p.(=) g.66951878del Copied from the Exome Variant Server CDH16_000189 14/12424 9/8204 5/4220
1 c.45+48T>C r.(=) p.(=) g.66951876A>G Copied from the Exome Variant Server CDH16_000188 6/12914 6/8556 0/4358
1 c.46-45C>T r.(=) p.(=) g.66951673G>A Copied from the Exome Variant Server CDH16_000187 1/12998 0/8600 1/4398
1 c.46-44G>A r.(=) p.(=) g.66951672C>T Copied from the Exome Variant Server CDH16_000186 3/12998 0/8600 3/4398
1 c.46-37G>T r.(=) p.(=) g.66951665C>A Copied from the Exome Variant Server CDH16_000185 1/12998 0/8598 1/4400
1 c.49C>T r.(?) p.(Leu17Phe) g.66951625G>A Copied from the Exome Variant Server CDH16_000184 1/13000 1/8600 0/4400
1 c.55A>C r.(?) p.(Lys19Gln) g.66951619T>G Copied from the Exome Variant Server CDH16_000183 23/13000 19/8600 4/4400
1 c.56A>T r.(?) p.(Lys19Met) g.66951618T>A Copied from the Exome Variant Server CDH16_000182 1/13000 1/8600 0/4400
1 c.85G>T r.(?) p.(Val29Phe) g.66951589C>A Copied from the Exome Variant Server CDH16_000181 2/13000 2/8600 0/4400
1 c.129+7C>T r.(=) p.(=) g.66951538G>A Copied from the Exome Variant Server CDH16_000180 1/13000 0/8600 1/4400
1 c.129+8G>A r.(=) p.(=) g.66951537C>T Copied from the Exome Variant Server CDH16_000179 14/13000 0/8600 14/4400
1 c.129+27C>T r.(=) p.(=) g.66951518G>A Copied from the Exome Variant Server CDH16_000178 1/13000 1/8600 0/4400
1 c.129+31G>A r.(=) p.(=) g.66951514C>T Copied from the Exome Variant Server CDH16_000177 1/13000 1/8600 0/4400
1 c.129+32G>A r.(=) p.(=) g.66951513C>T Copied from the Exome Variant Server CDH16_000176 3/13000 3/8600 0/4400
1 c.129+36C>T r.(=) p.(=) g.66951509G>A Copied from the Exome Variant Server CDH16_000175 9/13000 0/8600 9/4400
1 c.129+44G>A r.(=) p.(=) g.66951501C>T Copied from the Exome Variant Server CDH16_000174 1/13000 1/8600 0/4400
1 c.130-31C>T r.(=) p.(=) g.66950363G>A Copied from the Exome Variant Server CDH16_000173 1/13000 1/8600 0/4400
1 c.130-27C>T r.(=) p.(=) g.66950359G>A Copied from the Exome Variant Server CDH16_000172 4/13000 3/8600 1/4400
1 c.130-20C>T r.(=) p.(=) g.66950352G>A Copied from the Exome Variant Server CDH16_000171 1/13000 1/8600 0/4400
1 c.143G>A r.(?) p.(Arg48His) g.66950319C>T Copied from the Exome Variant Server CDH16_000170 1/13000 1/8600 0/4400
1 c.147G>A r.(=) p.(=) g.66950315C>T Copied from the Exome Variant Server CDH16_000169 1/13000 0/8600 1/4400
1 c.151G>A r.(?) p.(Ala51Thr) g.66950311C>T Copied from the Exome Variant Server CDH16_000168 5/13000 5/8600 0/4400
1 c.159C>T r.(=) p.(=) g.66950303G>A Copied from the Exome Variant Server CDH16_000167 1/13000 1/8600 0/4400
1 c.285+9G>A r.(=) p.(=) g.66950168C>T Copied from the Exome Variant Server CDH16_000166 2/13000 0/8600 2/4400
1 c.285+11G>A r.(=) p.(=) g.66950166C>T Copied from the Exome Variant Server CDH16_000165 5/13000 5/8600 0/4400
1 c.285+33C>G r.(=) p.(=) g.66950144G>C Copied from the Exome Variant Server CDH16_000164 6/13000 0/8600 6/4400
1 c.307G>A r.(?) p.(Gly103Arg) g.66950085C>T Copied from the Exome Variant Server CDH16_000163 1/13000 1/8600 0/4400
1 c.341T>C r.(?) p.(Val114Ala) g.66950051A>G Copied from the Exome Variant Server CDH16_000162 1/13000 0/8600 1/4400
1 c.354T>C r.(=) p.(=) g.66950038A>G Copied from the Exome Variant Server CDH16_000161 1/13000 1/8600 0/4400
1 c.400C>T r.(?) p.(Arg134Trp) g.66949992G>A Copied from the Exome Variant Server CDH16_000160 1/13000 0/8600 1/4400
1 c.409C>T r.(?) p.(Arg137Trp) g.66949983G>A Copied from the Exome Variant Server CDH16_000159 2/13000 2/8600 0/4400
1 c.424+27A>C r.(=) p.(=) g.66949941T>G Copied from the Exome Variant Server CDH16_000158 1/13000 1/8600 0/4400
1 c.424+38del r.(=) p.(=) g.66949930del Copied from the Exome Variant Server CDH16_000157 1/12518 0/8254 1/4264
1 c.425-35T>G r.(=) p.(=) g.66949316A>C Copied from the Exome Variant Server CDH16_000156 27/13000 0/8600 27/4400
1 c.425-9G>A r.(=) p.(=) g.66949290C>T Copied from the Exome Variant Server CDH16_000155 5/13000 0/8600 5/4400
1 c.478A>C r.(?) p.(Asn160His) g.66949228T>G Copied from the Exome Variant Server CDH16_000154 8/13000 8/8600 0/4400
1 c.480C>G r.(?) p.(Asn160Lys) g.66949226G>C Copied from the Exome Variant Server CDH16_000153 1/13000 1/8600 0/4400
1 c.491G>A r.(?) p.(Arg164Gln) g.66949215C>T Copied from the Exome Variant Server CDH16_000152 2/13000 0/8600 2/4400
1 c.511G>T r.(?) p.(Ala171Ser) g.66949195C>A Copied from the Exome Variant Server CDH16_000151 1/13000 1/8600 0/4400
1 c.516A>G r.(=) p.(=) g.66949190T>C Copied from the Exome Variant Server CDH16_000150 1/13000 0/8600 1/4400
1 c.583+9G>A r.(=) p.(=) g.66949114C>T Copied from the Exome Variant Server CDH16_000149 1/12972 0/8582 1/4390
1 c.583+13G>A r.(=) p.(=) g.66949110C>T Copied from the Exome Variant Server CDH16_000148 1/12956 0/8572 1/4384
1 c.584-45del r.(=) p.(=) g.66948360del Copied from the Exome Variant Server CDH16_000147 3/12514 2/8254 1/4260
1 c.584-19A>T r.(=) p.(=) g.66948334T>A Copied from the Exome Variant Server CDH16_000145 1/13000 0/8600 1/4400
1 c.584-9C>T r.(=) p.(=) g.66948324G>A Copied from the Exome Variant Server CDH16_000146 61/13000 55/8600 6/4400
1 c.604G>A r.(?) p.(Ala202Thr) g.66948295C>T Copied from the Exome Variant Server CDH16_000144 1/13000 0/8600 1/4400
1 c.618C>T r.(=) p.(=) g.66948281G>A Copied from the Exome Variant Server CDH16_000143 11/13000 0/8600 11/4400
1 c.648G>T r.(?) p.(Met216Ile) g.66948251C>A Copied from the Exome Variant Server CDH16_000142 1/13000 1/8600 0/4400
1 c.708C>T r.(=) p.(=) g.66948191G>A Copied from the Exome Variant Server CDH16_000141 5/13000 0/8600 5/4400
1 c.743A>G r.(?) p.(Glu248Gly) g.66948156T>C Copied from the Exome Variant Server CDH16_000140 2/13000 2/8600 0/4400
1 c.765G>A r.(=) p.(=) g.66948134C>T Copied from the Exome Variant Server CDH16_000139 1/13000 0/8600 1/4400
1 c.769C>T r.(?) p.(His257Tyr) g.66948130G>A Copied from the Exome Variant Server CDH16_000138 387/13000 257/8600 130/4400
1 c.780+35del r.(=) p.(=) g.66948084del Copied from the Exome Variant Server CDH16_000137 1/12518 0/8254 1/4264
1 c.781-17C>T r.(=) p.(=) g.66947533G>A Copied from the Exome Variant Server CDH16_000136 1/13000 1/8600 0/4400
1 c.781-5C>G r.spl? p.? g.66947521G>C Copied from the Exome Variant Server CDH16_000135 1/13000 1/8600 0/4400
1 c.781-3C>T r.spl? p.? g.66947519G>A Copied from the Exome Variant Server CDH16_000134 1/13000 0/8600 1/4400
1 c.792T>C r.(=) p.(=) g.66947505A>G Copied from the Exome Variant Server CDH16_000133 1/13000 0/8600 1/4400
1 c.818A>T r.(?) p.(Glu273Val) g.66947479T>A Copied from the Exome Variant Server CDH16_000132 2/13000 2/8600 0/4400
1 c.820A>G r.(?) p.(Ser274Gly) g.66947477T>C Copied from the Exome Variant Server CDH16_000131 1/13000 0/8600 1/4400
1 c.830C>T r.(?) p.(Pro277Leu) g.66947467G>A Copied from the Exome Variant Server CDH16_000130 1/13000 0/8600 1/4400
1 c.849T>C r.(=) p.(=) g.66947448A>G Copied from the Exome Variant Server CDH16_000129 1/13000 1/8600 0/4400
1 c.852A>C r.(=) p.(=) g.66947445T>G Copied from the Exome Variant Server CDH16_000128 1/13000 0/8600 1/4400
1 c.867C>T r.(=) p.(=) g.66947430G>A Copied from the Exome Variant Server CDH16_000127 4/13000 0/8600 4/4400
1 c.903+11G>C r.(=) p.(=) g.66947383C>G Copied from the Exome Variant Server CDH16_000126 3951/13000 937/8600 3014/4400
1 c.903+31C>T r.(=) p.(=) g.66947363G>A Copied from the Exome Variant Server CDH16_000125 1670/13000 471/8600 1199/4400
1 c.903+50G>A r.(=) p.(=) g.66947344C>T Copied from the Exome Variant Server CDH16_000124 1/13000 1/8600 0/4400
1 c.904-19C>T r.(=) p.(=) g.66947203G>A Copied from the Exome Variant Server CDH16_000123 1/13000 0/8600 1/4400
1 c.904-8C>T r.(=) p.(=) g.66947192G>A Copied from the Exome Variant Server CDH16_000122 2/13000 1/8600 1/4400
1 c.904-4G>A r.spl? p.? g.66947188C>T Copied from the Exome Variant Server CDH16_000121 1/13000 1/8600 0/4400
1 c.950C>T r.(?) p.(Ala317Val) g.66947138G>A Copied from the Exome Variant Server CDH16_000120 1/13000 0/8600 1/4400
1 c.963G>C r.(?) p.(Glu321Asp) g.66947125C>G Copied from the Exome Variant Server CDH16_000119 1/13000 1/8600 0/4400
1 c.965T>C r.(?) p.(Leu322Pro) g.66947123A>G Copied from the Exome Variant Server CDH16_000118 1/13000 1/8600 0/4400
1 c.969C>T r.(=) p.(=) g.66947119G>A Copied from the Exome Variant Server CDH16_000117 1/13000 1/8600 0/4400
1 c.984T>A r.(?) p.(Asp328Glu) g.66947104A>T Copied from the Exome Variant Server CDH16_000116 1/13000 0/8600 1/4400
1 c.989A>G r.(?) p.(Asn330Ser) g.66947099T>C Copied from the Exome Variant Server CDH16_000115 1/13000 1/8600 0/4400
1 c.997G>A r.(?) p.(Val333Met) g.66947091C>T Copied from the Exome Variant Server CDH16_000114 1/13000 1/8600 0/4400
1 c.1008C>T r.(=) p.(=) g.66947080G>A Copied from the Exome Variant Server CDH16_000113 3/13000 0/8600 3/4400
1 c.1016G>A r.(?) p.(Arg339His) g.66947072C>T Copied from the Exome Variant Server CDH16_000112 12/13000 0/8600 12/4400
1 c.1054+10A>G r.(=) p.(=) g.66947024T>C Copied from the Exome Variant Server CDH16_000111 386/13000 258/8600 128/4400
1 c.1055-48T>C r.(=) p.(=) g.66946842A>G Copied from the Exome Variant Server CDH16_000110 124/12998 47/8598 77/4400
1 c.1055-21A>G r.(=) p.(=) g.66946815T>C Copied from the Exome Variant Server CDH16_000109 1/13000 0/8600 1/4400
1 c.1086T>C r.(=) p.(=) g.66946763A>G Copied from the Exome Variant Server CDH16_000108 1/13000 1/8600 0/4400
1 c.1095C>T r.(=) p.(=) g.66946754G>A Copied from the Exome Variant Server CDH16_000107 1/13000 1/8600 0/4400
1 c.1098C>T r.(=) p.(=) g.66946751G>A Copied from the Exome Variant Server CDH16_000106 1/13000 1/8600 0/4400
1 c.1101C>G r.(=) p.(=) g.66946748G>C Copied from the Exome Variant Server CDH16_000105 11/13000 4/8600 7/4400
1 c.1109A>G r.(?) p.(Asn370Ser) g.66946740T>C Copied from the Exome Variant Server CDH16_000104 2/13000 0/8600 2/4400
1 c.1117G>A r.(?) p.(Val373Ile) g.66946732C>T Copied from the Exome Variant Server CDH16_000103 1/13000 1/8600 0/4400
1 c.1131C>T r.(=) p.(=) g.66946718G>A Copied from the Exome Variant Server CDH16_000102 80/13000 0/8600 80/4400
1 c.1153G>A r.(?) p.(Gly385Arg) g.66946696C>T Copied from the Exome Variant Server CDH16_000101 3/13000 2/8600 1/4400
1 c.1156del r.(?) p.(Val386*) g.66946693del Copied from the Exome Variant Server CDH16_000100 51/12516 36/8254 15/4262
1 c.1182C>T r.(=) p.(=) g.66946667G>A Copied from the Exome Variant Server CDH16_000099 5/13000 2/8600 3/4400
1 c.1223G>A r.(?) p.(Arg408Gln) g.66946626C>T Copied from the Exome Variant Server CDH16_000098 1/13000 1/8600 0/4400
1 c.1258A>G r.(?) p.(Met420Val) g.66946591T>C Copied from the Exome Variant Server CDH16_000097 4/13000 4/8600 0/4400
1 c.1271G>A r.(?) p.(Gly424Asp) g.66946578C>T Copied from the Exome Variant Server CDH16_000096 1/13000 0/8600 1/4400
1 c.1272C>T r.(=) p.(=) g.66946577G>A Copied from the Exome Variant Server CDH16_000095 4/13000 3/8600 1/4400
1 c.1282+26G>A r.(=) p.(=) g.66946541C>T Copied from the Exome Variant Server CDH16_000094 10/13000 0/8600 10/4400
1 c.1283-17G>A r.(=) p.(=) g.66946500C>T Copied from the Exome Variant Server CDH16_000093 1/13000 1/8600 0/4400
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