Full data view for gene ANKAR

Information The variants shown are described using the NM_144708.3 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.98_99insT r.(?) p.(Glu36*) g.190541314_190541315insT Copied from the Exome Variant Server ANKAR_000001 2/11806 2/7976 0/3830 - - - - - - -
?/? c.184C>T r.(?) p.(Arg62Cys) g.190541400C>T Copied from the Exome Variant Server ANKAR_000002 6/13002 0/8598 6/4404 - - - - - - -
?/? c.253C>T r.(=) p.(=) g.190541469C>T Copied from the Exome Variant Server ANKAR_000003 76/13006 1/8600 75/4406 - - - - - - -
?/? c.276T>G r.(=) p.(=) g.190541492T>G Copied from the Exome Variant Server ANKAR_000004 148/13006 0/8600 148/4406 - - - - - - -
?/? c.281T>G r.(?) p.(Leu94Arg) g.190541497T>G Copied from the Exome Variant Server ANKAR_000005 225/13006 1/8600 224/4406 - - - - - - -
?/? c.316G>A r.(?) p.(Glu106Lys) g.190541532G>A Copied from the Exome Variant Server ANKAR_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.328G>A r.(?) p.(Gly110Arg) g.190541544G>A Copied from the Exome Variant Server ANKAR_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.430G>A r.(?) p.(Gly144Arg) g.190541646G>A Copied from the Exome Variant Server ANKAR_000008 3/13006 3/8600 0/4406 - - - - - - -
?/? c.476A>T r.(?) p.(His159Leu) g.190541692A>T Copied from the Exome Variant Server ANKAR_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.479G>C r.(?) p.(Gly160Ala) g.190541695G>C Copied from the Exome Variant Server ANKAR_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.527G>A r.(?) p.(Arg176His) g.190541743G>A Copied from the Exome Variant Server ANKAR_000011 18/13006 2/8600 16/4406 - - - - - - -
?/? c.560C>T r.(?) p.(Pro187Leu) g.190541776C>T Copied from the Exome Variant Server ANKAR_000012 1/13004 1/8598 0/4406 - - - - - - -
?/? c.567_570del r.(?) p.(Asn190Lysfs*12) g.190541783_190541786del Copied from the Exome Variant Server ANKAR_000013 2/12518 2/8252 0/4266 - - - - - - -
?/? c.572A>C r.(?) p.(Lys191Thr) g.190541788A>C Copied from the Exome Variant Server ANKAR_000014 16/13002 15/8596 1/4406 - - - - - - -
?/? c.601+38_601+44del r.(=) p.(=) g.190541855_190541861del Copied from the Exome Variant Server ANKAR_000015 447/11720 152/7852 295/3868 - - - - - - -
?/? c.601+39_601+44del r.(=) p.(=) g.190541856_190541861del Copied from the Exome Variant Server ANKAR_000016 550/11658 218/7824 332/3834 - - - - - - -
?/? c.601+42_601+44del r.(=) p.(=) g.190541859_190541861del Copied from the Exome Variant Server ANKAR_000017 1680/11464 918/7710 762/3754 - - - - - - -
?/? c.601+43_601+44del r.(=) p.(=) g.190541860_190541861del Copied from the Exome Variant Server ANKAR_000018 2490/11448 1374/7700 1116/3748 - - - - - - -
?/? c.601+44del r.(=) p.(=) g.190541861del Copied from the Exome Variant Server ANKAR_000019 2539/11350 1373/7628 1166/3722 - - - - - - -
?/? c.601+46_601+47insG r.(=) p.(=) g.190541863_190541864insG Copied from the Exome Variant Server ANKAR_000020 45/11358 30/7618 15/3740 - - - - - - -
?/? c.602-31C>G r.(=) p.(=) g.190554222C>G Copied from the Exome Variant Server ANKAR_000021 24/12920 24/8566 0/4354 - - - - - - -
?/? c.602-27C>T r.(=) p.(=) g.190554226C>T Copied from the Exome Variant Server ANKAR_000022 3/12930 0/8568 3/4362 - - - - - - -
?/? c.616A>G r.(?) p.(Thr206Ala) g.190554267A>G Copied from the Exome Variant Server ANKAR_000023 99/13000 2/8594 97/4406 - - - - - - -
?/? c.634A>C r.(?) p.(Asn212His) g.190554285A>C Copied from the Exome Variant Server ANKAR_000024 1/13000 1/8594 0/4406 - - - - - - -
?/? c.644A>G r.(?) p.(Tyr215Cys) g.190554295A>G Copied from the Exome Variant Server ANKAR_000025 1/12998 1/8592 0/4406 - - - - - - -
?/? c.654C>T r.(=) p.(=) g.190554305C>T Copied from the Exome Variant Server ANKAR_000026 1/12996 1/8590 0/4406 - - - - - - -
?/? c.687C>A r.(?) p.(Ser229Arg) g.190554338C>A Copied from the Exome Variant Server ANKAR_000027 1/13004 0/8598 1/4406 - - - - - - -
?/? c.711G>T r.(?) p.(Met237Ile) g.190554362G>T Copied from the Exome Variant Server ANKAR_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.726T>G r.(?) p.(Asn242Lys) g.190554377T>G Copied from the Exome Variant Server ANKAR_000029 3/13002 0/8596 3/4406 - - - - - - -
?/? c.811A>G r.(?) p.(Asn271Asp) g.190554462A>G Copied from the Exome Variant Server ANKAR_000030 155/12986 144/8582 11/4404 - - - - - - -
?/? c.971C>T r.(?) p.(Pro324Leu) g.190554622C>T Copied from the Exome Variant Server ANKAR_000031 2/12646 2/8452 0/4194 - - - - - - -
?/? c.972A>C r.(=) p.(=) g.190554623A>C Copied from the Exome Variant Server ANKAR_000032 1/12642 1/8454 0/4188 - - - - - - -
?/? c.976C>A r.(?) p.(Leu326Ile) g.190554627C>A Copied from the Exome Variant Server ANKAR_000033 1/12630 0/8444 1/4186 - - - - - - -
?/? c.1040-43T>C r.(=) p.(=) g.190556938T>C Copied from the Exome Variant Server ANKAR_000035 1/12708 1/8516 0/4192 - - - - - - -
?/? c.1069C>G r.(?) p.(Pro357Ala) g.190557010C>G Copied from the Exome Variant Server ANKAR_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1091_1092insT r.(?) p.(Lys366*) g.190557032_190557033insT Copied from the Exome Variant Server ANKAR_000039 2/12520 0/8254 2/4266 - - - - - - -
?/? c.1136A>T r.(?) p.(His379Leu) g.190557077A>T Copied from the Exome Variant Server ANKAR_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1171C>T r.(?) p.(Pro391Ser) g.190557112C>T Copied from the Exome Variant Server ANKAR_000043 3/13006 0/8600 3/4406 - - - - - - -
?/? c.1203+10A>G r.(=) p.(=) g.190557154A>G Copied from the Exome Variant Server ANKAR_000045 26/13002 0/8596 26/4406 - - - - - - -
?/? c.1214del r.(?) p.(Ile407Tyrfs*10) g.190557810del Copied from the Exome Variant Server ANKAR_000047 88/12348 54/8170 34/4178 - - - - - - -
?/? c.1298A>G r.(?) p.(His433Arg) g.190557894A>G Copied from the Exome Variant Server ANKAR_000049 10/12898 10/8528 0/4370 - - - - - - -
?/? c.1307+5G>A r.spl? p.? g.190557908G>A Copied from the Exome Variant Server ANKAR_000051 270/12886 3/8520 267/4366 - - - - - - -
?/? c.1307+47C>T r.(=) p.(=) g.190557950C>T Copied from the Exome Variant Server ANKAR_000055 1/12782 0/8510 1/4272 - - - - - - -
?/? c.1313A>C r.(?) p.(Tyr438Ser) g.190559712A>C Copied from the Exome Variant Server ANKAR_000034 76/12986 0/8594 76/4392 - - - - - - -
?/? c.1332A>G r.(=) p.(=) g.190559731A>G Copied from the Exome Variant Server ANKAR_000036 1/13000 1/8598 0/4402 - - - - - - -
?/? c.1365_1367del r.(?) p.(Trp457del) g.190559764_190559766del Copied from the Exome Variant Server ANKAR_000038 20/12516 14/8252 6/4264 - - - - - - -
?/? c.1454A>G r.(?) p.(Lys485Arg) g.190559853A>G Copied from the Exome Variant Server ANKAR_000040 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1488+9G>A r.(=) p.(=) g.190559896G>A Copied from the Exome Variant Server ANKAR_000042 1/13002 0/8596 1/4406 - - - - - - -
?/? c.1488+10T>G r.(=) p.(=) g.190559897T>G Copied from the Exome Variant Server ANKAR_000044 3/13002 0/8596 3/4406 - - - - - - -
?/? c.1488+48T>C r.(=) p.(=) g.190559935T>C Copied from the Exome Variant Server ANKAR_000046 97/12976 2/8584 95/4392 - - - - - - -
?/? c.1489-1G>C r.spl? p.? g.190560875G>C Copied from the Exome Variant Server ANKAR_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1506G>A r.(?) p.(Met502Ile) g.190560893G>A Copied from the Exome Variant Server ANKAR_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1512C>T r.(=) p.(=) g.190560899C>T Copied from the Exome Variant Server ANKAR_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1555C>T r.(?) p.(Arg519Cys) g.190560942C>T Copied from the Exome Variant Server ANKAR_000054 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1556G>A r.(?) p.(Arg519His) g.190560943G>A Copied from the Exome Variant Server ANKAR_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1602T>C r.(=) p.(=) g.190560989T>C Copied from the Exome Variant Server ANKAR_000058 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1616A>T r.(?) p.(His539Leu) g.190561003A>T Copied from the Exome Variant Server ANKAR_000060 27/13006 0/8600 27/4406 - - - - - - -
?/? c.1640C>A r.(?) p.(Ser547Tyr) g.190561027C>A Copied from the Exome Variant Server ANKAR_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1673A>G r.(?) p.(Lys558Arg) g.190561060A>G Copied from the Exome Variant Server ANKAR_000064 455/13006 176/8600 279/4406 - - - - - - -
?/? c.1698G>A r.(=) p.(=) g.190561085G>A Copied from the Exome Variant Server ANKAR_000066 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1708+26A>G r.(=) p.(=) g.190561121A>G Copied from the Exome Variant Server ANKAR_000068 285/13006 256/8600 29/4406 - - - - - - -
?/? c.1709-46G>A r.(=) p.(=) g.190569703G>A Copied from the Exome Variant Server ANKAR_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1759G>T r.(?) p.(Val587Phe) g.190569799G>T Copied from the Exome Variant Server ANKAR_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1771T>C r.(?) p.(Cys591Arg) g.190569811T>C Copied from the Exome Variant Server ANKAR_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1800A>G r.(=) p.(=) g.190569840A>G Copied from the Exome Variant Server ANKAR_000076 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1818G>A r.(=) p.(=) g.190569858G>A Copied from the Exome Variant Server ANKAR_000078 9/13006 5/8600 4/4406 - - - - - - -
?/? c.1845C>T r.(=) p.(=) g.190569885C>T Copied from the Exome Variant Server ANKAR_000080 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1846G>A r.(?) p.(Val616Ile) g.190569886G>A Copied from the Exome Variant Server ANKAR_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1868G>A r.(?) p.(Cys623Tyr) g.190569908G>A Copied from the Exome Variant Server ANKAR_000053 251/13006 236/8600 15/4406 - - - - - - -
?/? c.1880C>G r.(?) p.(Pro627Arg) g.190569920C>G Copied from the Exome Variant Server ANKAR_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1904C>T r.(?) p.(Thr635Ile) g.190569944C>T Copied from the Exome Variant Server ANKAR_000059 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1910+3A>G r.spl? p.? g.190569953A>G Copied from the Exome Variant Server ANKAR_000061 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1910+32G>T r.(=) p.(=) g.190569982G>T Copied from the Exome Variant Server ANKAR_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1910+34T>C r.(=) p.(=) g.190569984T>C Copied from the Exome Variant Server ANKAR_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1910+52del r.(=) p.(=) g.190570002del Copied from the Exome Variant Server ANKAR_000067 12088/12312 8152/8188 3936/4124 - - - - - - -
?/? c.1911-25A>C r.(=) p.(=) g.190571639A>C Copied from the Exome Variant Server ANKAR_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1911-15T>G r.(=) p.(=) g.190571649T>G Copied from the Exome Variant Server ANKAR_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1939G>A r.(?) p.(Ala647Thr) g.190571692G>A Copied from the Exome Variant Server ANKAR_000073 20/13006 0/8600 20/4406 - - - - - - -
?/? c.2023A>G r.(?) p.(Ile675Val) g.190571776A>G Copied from the Exome Variant Server ANKAR_000075 464/13004 383/8600 81/4404 - - - - - - -
?/? c.2040G>A r.(=) p.(=) g.190571793G>A Copied from the Exome Variant Server ANKAR_000077 1/13004 1/8600 0/4404 - - - - - - -
?/? c.2044A>G r.(?) p.(Thr682Ala) g.190571797A>G Copied from the Exome Variant Server ANKAR_000079 102/13002 3/8598 99/4404 - - - - - - -
?/? c.2071A>G r.(?) p.(Ile691Val) g.190571824A>G Copied from the Exome Variant Server ANKAR_000081 1/12802 1/8516 0/4286 - - - - - - -
?/? c.2091T>C r.(=) p.(=) g.190571844T>C Copied from the Exome Variant Server ANKAR_000083 1/12434 0/8320 1/4114 - - - - - - -
?/? c.2120-31C>A r.(=) p.(=) g.190575744C>A Copied from the Exome Variant Server ANKAR_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2120A>C r.(?) p.(Glu707Ala) g.190575775A>C Copied from the Exome Variant Server ANKAR_000085 3/13006 0/8600 3/4406 - - - - - - -
?/? c.2146C>T r.(?) p.(Arg716*) g.190575801C>T Copied from the Exome Variant Server ANKAR_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.2147G>A r.(?) p.(Arg716Gln) g.190575802G>A Copied from the Exome Variant Server ANKAR_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2164A>G r.(?) p.(Met722Val) g.190575819A>G Copied from the Exome Variant Server ANKAR_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2194G>A r.(?) p.(Asp732Asn) g.190575849G>A Copied from the Exome Variant Server ANKAR_000089 2/13006 0/8600 2/4406 - - - - - - -
?/? c.2199A>G r.(=) p.(=) g.190575854A>G Copied from the Exome Variant Server ANKAR_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2208A>G r.(=) p.(=) g.190575863A>G Copied from the Exome Variant Server ANKAR_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2224+22A>T r.(=) p.(=) g.190575901A>T Copied from the Exome Variant Server ANKAR_000092 99/13006 2/8600 97/4406 - - - - - - -
?/? c.2225-48G>A r.(=) p.(=) g.190584250G>A Copied from the Exome Variant Server ANKAR_000093 1/12982 0/8594 1/4388 - - - - - - -
?/? c.2225-25A>C r.(=) p.(=) g.190584273A>C Copied from the Exome Variant Server ANKAR_000094 65/13002 0/8598 65/4404 - - - - - - -
?/? c.2225-13C>T r.(=) p.(=) g.190584285C>T Copied from the Exome Variant Server ANKAR_000095 26/13004 0/8598 26/4406 - - - - - - -
?/? c.2274G>T r.(=) p.(=) g.190584347G>T Copied from the Exome Variant Server ANKAR_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2327T>C r.(?) p.(Val776Ala) g.190584400T>C Copied from the Exome Variant Server ANKAR_000097 38/13006 0/8600 38/4406 - - - - - - -
?/? c.2337G>A r.(=) p.(=) g.190584410G>A Copied from the Exome Variant Server ANKAR_000098 77/13006 0/8600 77/4406 - - - - - - -
?/? c.2346G>A r.(=) p.(=) g.190584419G>A Copied from the Exome Variant Server ANKAR_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2367C>T r.(=) p.(=) g.190584440C>T Copied from the Exome Variant Server ANKAR_000100 1/13006 1/8600 0/4406 - - - - - - -
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