Unique variants in gene THEMIS

Information The variants shown are described using the NM_001010923.2 transcript reference sequence.

115 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.-8G>C r.(=) p.(=) g.128222085C>G Copied from the Exome Variant Server THEMIS_000115 2/13006 2/8600 0/4406
1 c.5C>A r.(?) p.(Ala2Glu) g.128222073G>T Copied from the Exome Variant Server THEMIS_000114 1/13006 1/8600 0/4406
1 c.25G>A r.(?) p.(Val9Ile) g.128222053C>T Copied from the Exome Variant Server THEMIS_000113 2/13006 0/8600 2/4406
1 c.51A>C r.(=) p.(=) g.128222027T>G Copied from the Exome Variant Server THEMIS_000112 1/13006 1/8600 0/4406
1 c.73G>A r.(?) p.(Ala25Thr) g.128222005C>T Copied from the Exome Variant Server THEMIS_000111 1/13006 1/8600 0/4406
1 c.91+6C>G r.(=) p.(=) g.128221981G>C Copied from the Exome Variant Server THEMIS_000110 1/13006 1/8600 0/4406
1 c.91+34C>T r.(=) p.(=) g.128221953G>A Copied from the Exome Variant Server THEMIS_000109 1/13006 1/8600 0/4406
1 c.91+35A>T r.(=) p.(=) g.128221952T>A Copied from the Exome Variant Server THEMIS_000108 1/13006 0/8600 1/4406
1 c.91+49T>C r.(=) p.(=) g.128221938A>G Copied from the Exome Variant Server THEMIS_000107 1/13006 0/8600 1/4406
1 c.91+50A>G r.(=) p.(=) g.128221937T>C Copied from the Exome Variant Server THEMIS_000106 1/13006 0/8600 1/4406
1 c.92-50T>C r.(=) p.(=) g.128176383A>G Copied from the Exome Variant Server THEMIS_000105 7844/12796 5310/8488 2534/4308
1 c.98T>C r.(?) p.(Ile33Thr) g.128176327A>G Copied from the Exome Variant Server THEMIS_000104 3/13000 1/8598 2/4402
1 c.107T>C r.(?) p.(Met36Thr) g.128176318A>G Copied from the Exome Variant Server THEMIS_000102 21/12998 20/8596 1/4402
1 c.136G>A r.(?) p.(Gly46Arg) g.128176289C>T Copied from the Exome Variant Server THEMIS_000100 1/13006 1/8600 0/4406
1 c.237T>G r.(=) p.(=) g.128176188A>C Copied from the Exome Variant Server THEMIS_000098 1/13006 1/8600 0/4406
1 c.250+10A>T r.(=) p.(=) g.128176165T>A Copied from the Exome Variant Server THEMIS_000096 2/13006 0/8600 2/4406
1 c.250+46A>G r.(=) p.(=) g.128176129T>C Copied from the Exome Variant Server THEMIS_000094 2/13000 0/8598 2/4402
1 c.251-17C>T r.(=) p.(=) g.128151096G>A Copied from the Exome Variant Server THEMIS_000103 45/12684 0/8390 45/4294
1 c.251-16G>A r.(=) p.(=) g.128151095C>T Copied from the Exome Variant Server THEMIS_000101 1/12756 1/8436 0/4320
1 c.251-9T>C r.(=) p.(=) g.128151088A>G Copied from the Exome Variant Server THEMIS_000099 1/12854 0/8494 1/4360
1 c.288T>C r.(=) p.(=) g.128151042A>G Copied from the Exome Variant Server THEMIS_000097 5/13002 1/8596 4/4406
1 c.342T>C r.(=) p.(=) g.128150988A>G Copied from the Exome Variant Server THEMIS_000095 1/13006 1/8600 0/4406
1 c.353A>G r.(?) p.(Tyr118Cys) g.128150977T>C Copied from the Exome Variant Server THEMIS_000093 1/13006 1/8600 0/4406
1 c.381C>A r.(?) p.(Asn127Lys) g.128150949G>T Copied from the Exome Variant Server THEMIS_000092 4/13006 0/8600 4/4406
1 c.384C>T r.(=) p.(=) g.128150946G>A Copied from the Exome Variant Server THEMIS_000091 11/13006 0/8600 11/4406
1 c.421G>C r.(?) p.(Val141Leu) g.128150909C>G Copied from the Exome Variant Server THEMIS_000090 2/13006 2/8600 0/4406
1 c.431T>C r.(?) p.(Ile144Thr) g.128150899A>G Copied from the Exome Variant Server THEMIS_000089 3/13006 0/8600 3/4406
1 c.473A>G r.(?) p.(His158Arg) g.128150857T>C Copied from the Exome Variant Server THEMIS_000088 1/13006 0/8600 1/4406
1 c.492T>C r.(=) p.(=) g.128150838A>G Copied from the Exome Variant Server THEMIS_000087 1/13006 1/8600 0/4406
1 c.509A>G r.(?) p.(Glu170Gly) g.128150821T>C Copied from the Exome Variant Server THEMIS_000086 54/13006 0/8600 54/4406
1 c.522C>T r.(=) p.(=) g.128150808G>A Copied from the Exome Variant Server THEMIS_000085 2/13006 0/8600 2/4406
1 c.535G>A r.(?) p.(Glu179Lys) g.128150795C>T Copied from the Exome Variant Server THEMIS_000084 1/13006 1/8600 0/4406
1 c.540T>C r.(=) p.(=) g.128150790A>G Copied from the Exome Variant Server THEMIS_000083 1/13006 0/8600 1/4406
1 c.590C>A r.(?) p.(Thr197Lys) g.128150740G>T Copied from the Exome Variant Server THEMIS_000082 2/13006 2/8600 0/4406
1 c.612T>C r.(=) p.(=) g.128150718A>G Copied from the Exome Variant Server THEMIS_000081 17/13006 16/8600 1/4406
1 c.622A>G r.(?) p.(Lys208Glu) g.128150708T>C Copied from the Exome Variant Server THEMIS_000080 16/13006 15/8600 1/4406
1 c.656T>A r.(?) p.(Phe219Tyr) g.128150674A>T Copied from the Exome Variant Server THEMIS_000079 1/13006 0/8600 1/4406
1 c.693T>A r.(=) p.(=) g.128150637A>T Copied from the Exome Variant Server THEMIS_000078 3/13006 2/8600 1/4406
1 c.709+9C>G r.(=) p.(=) g.128150612G>C Copied from the Exome Variant Server THEMIS_000077 1/13006 1/8600 0/4406
1 c.709+10C>A r.(=) p.(=) g.128150611G>T Copied from the Exome Variant Server THEMIS_000076 2/13006 0/8600 2/4406
1 c.709+12C>G r.(=) p.(=) g.128150609G>C Copied from the Exome Variant Server THEMIS_000075 1/13006 0/8600 1/4406
1 c.709+21A>C r.(=) p.(=) g.128150600T>G Copied from the Exome Variant Server THEMIS_000073 1/13006 0/8600 1/4406
1 c.709+31A>T r.(=) p.(=) g.128150590T>A Copied from the Exome Variant Server THEMIS_000072 1/13006 0/8600 1/4406
1 c.709+38G>A r.(=) p.(=) g.128150583C>T Copied from the Exome Variant Server THEMIS_000071 2/13006 2/8600 0/4406
1 c.709+47G>T r.(=) p.(=) g.128150574C>A Copied from the Exome Variant Server THEMIS_000070 2/13006 2/8600 0/4406
1 c.724A>G r.(?) p.(Ile242Val) g.128135062T>C Copied from the Exome Variant Server THEMIS_000069 2/12966 2/8598 0/4368
1 c.728G>A r.(?) p.(Arg243His) g.128135058C>T Copied from the Exome Variant Server THEMIS_000068 1/12994 1/8600 0/4394
1 c.739A>G r.(?) p.(Ser247Gly) g.128135047T>C Copied from the Exome Variant Server THEMIS_000067 1/13002 1/8600 0/4402
1 c.751G>C r.(?) p.(Glu251Gln) g.128135035C>G Copied from the Exome Variant Server THEMIS_000066 2/13004 2/8600 0/4404
1 c.754G>A r.(?) p.(Val252Ile) g.128135032C>T Copied from the Exome Variant Server THEMIS_000065 4/13004 0/8600 4/4404
1 c.785A>G r.(?) p.(Asn262Ser) g.128135001T>C Copied from the Exome Variant Server THEMIS_000064 1/13006 0/8600 1/4406
1 c.801G>A r.(=) p.(=) g.128134985C>T Copied from the Exome Variant Server THEMIS_000063 2/13006 1/8600 1/4406
1 c.846C>T r.(=) p.(=) g.128134940G>A Copied from the Exome Variant Server THEMIS_000062 1/13006 0/8600 1/4406
1 c.878G>A r.(?) p.(Gly293Glu) g.128134908C>T Copied from the Exome Variant Server THEMIS_000061 1/13006 0/8600 1/4406
1 c.923T>A r.(?) p.(Val308Glu) g.128134863A>T Copied from the Exome Variant Server THEMIS_000060 1/13006 1/8600 0/4406
1 c.953T>C r.(?) p.(Ile318Thr) g.128134833A>G Copied from the Exome Variant Server THEMIS_000059 1/13006 1/8600 0/4406
1 c.1038G>A r.(=) p.(=) g.128134748C>T Copied from the Exome Variant Server THEMIS_000058 4/13006 3/8600 1/4406
1 c.1071C>A r.(=) p.(=) g.128134715G>T Copied from the Exome Variant Server THEMIS_000057 2/13006 1/8600 1/4406
1 c.1086G>A r.(=) p.(=) g.128134700C>T Copied from the Exome Variant Server THEMIS_000056 2/13006 0/8600 2/4406
1 c.1101G>C r.(=) p.(=) g.128134685C>G Copied from the Exome Variant Server THEMIS_000055 722/13006 436/8600 286/4406
1 c.1114G>A r.(?) p.(Ala372Thr) g.128134672C>T Copied from the Exome Variant Server THEMIS_000053 2/13006 0/8600 2/4406
1 c.1115C>A r.(?) p.(Ala372Glu) g.128134671G>T Copied from the Exome Variant Server THEMIS_000050 9/13006 0/8600 9/4406
1 c.1124C>A r.(?) p.(Ser375Tyr) g.128134662G>T Copied from the Exome Variant Server THEMIS_000048 2/13006 2/8600 0/4406
1 c.1190C>T r.(?) p.(Thr397Ile) g.128134596G>A Copied from the Exome Variant Server THEMIS_000046 1/13006 1/8600 0/4406
1 c.1229T>A r.(?) p.(Val410Asp) g.128134557A>T Copied from the Exome Variant Server THEMIS_000044 1/13006 0/8600 1/4406
1 c.1245dup r.(?) p.(Ile416Asnfs*7) g.128134541dup Copied from the Exome Variant Server THEMIS_000042 1/12516 1/8254 0/4262
1 c.1245_1246del r.(?) p.(Lys415Asnfs*7) g.128134540_128134541del Copied from the Exome Variant Server THEMIS_000074 5/12516 5/8254 0/4262
1 c.1270G>A r.(?) p.(Ala424Thr) g.128134516C>T Copied from the Exome Variant Server THEMIS_000054 117/13006 109/8600 8/4406
1 c.1308G>A r.(=) p.(=) g.128134478C>T Copied from the Exome Variant Server THEMIS_000052 4/13006 4/8600 0/4406
1 c.1332C>T r.(=) p.(=) g.128134454G>A Copied from the Exome Variant Server THEMIS_000051 1/13006 1/8600 0/4406
1 c.1369T>G r.(?) p.(Phe457Val) g.128134417A>C Copied from the Exome Variant Server THEMIS_000049 1/13006 1/8600 0/4406
1 c.1371C>T r.(=) p.(=) g.128134415G>A Copied from the Exome Variant Server THEMIS_000047 2/13006 2/8600 0/4406
1 c.1375G>A r.(?) p.(Val459Met) g.128134411C>T Copied from the Exome Variant Server THEMIS_000045 1/13006 1/8600 0/4406
1 c.1380G>C r.(?) p.(Lys460Asn) g.128134406C>G Copied from the Exome Variant Server THEMIS_000043 2/13006 2/8600 0/4406
1 c.1400C>T r.(?) p.(Ser467Phe) g.128134386G>A Copied from the Exome Variant Server THEMIS_000041 9/13006 0/8600 9/4406
1 c.1410G>A r.(=) p.(=) g.128134376C>T Copied from the Exome Variant Server THEMIS_000040 1/13006 0/8600 1/4406
1 c.1472T>A r.(?) p.(Leu491His) g.128134314A>T Copied from the Exome Variant Server THEMIS_000039 1/13006 1/8600 0/4406
1 c.1529A>C r.(?) p.(Asn510Thr) g.128134257T>G Copied from the Exome Variant Server THEMIS_000038 1/13006 1/8600 0/4406
1 c.1549A>G r.(?) p.(Ser517Gly) g.128134237T>C Copied from the Exome Variant Server THEMIS_000037 1/13006 1/8600 0/4406
1 c.1559C>G r.(?) p.(Ser520Cys) g.128134227G>C Copied from the Exome Variant Server THEMIS_000036 1/13006 0/8600 1/4406
1 c.1592T>C r.(?) p.(Leu531Pro) g.128134194A>G Copied from the Exome Variant Server THEMIS_000035 1/13006 0/8600 1/4406
1 c.1593G>A r.(=) p.(=) g.128134193C>T Copied from the Exome Variant Server THEMIS_000034 40/13006 0/8600 40/4406
1 c.1599A>G r.(=) p.(=) g.128134187T>C Copied from the Exome Variant Server THEMIS_000033 1/13006 1/8600 0/4406
1 c.1600G>C r.(?) p.(Glu534Gln) g.128134186C>G Copied from the Exome Variant Server THEMIS_000032 1/13006 1/8600 0/4406
1 c.1673C>T r.(?) p.(Pro558Leu) g.128134113G>A Copied from the Exome Variant Server THEMIS_000031 1/13006 1/8600 0/4406
1 c.1722A>G r.(=) p.(=) g.128134064T>C Copied from the Exome Variant Server THEMIS_000030 1/13006 1/8600 0/4406
1 c.1733C>T r.(?) p.(Thr578Met) g.128134053G>A Copied from the Exome Variant Server THEMIS_000029 1/13006 0/8600 1/4406
1 c.1737A>G r.(=) p.(=) g.128134049T>C Copied from the Exome Variant Server THEMIS_000028 5/13006 0/8600 5/4406
1 c.1751C>T r.(?) p.(Ser584Phe) g.128134035G>A Copied from the Exome Variant Server THEMIS_000027 1/13006 0/8600 1/4406
1 c.1758+23T>C r.(=) p.(=) g.128134005A>G Copied from the Exome Variant Server THEMIS_000026 1/13006 1/8600 0/4406
1 c.1758+27C>T r.(=) p.(=) g.128134001G>A Copied from the Exome Variant Server THEMIS_000025 1/13006 0/8600 1/4406
1 c.1758+44T>G r.(=) p.(=) g.128133984A>C Copied from the Exome Variant Server THEMIS_000024 1/13006 1/8600 0/4406
1 c.1759-8C>A r.(=) p.(=) g.128040976G>T Copied from the Exome Variant Server THEMIS_000023 4/13006 0/8600 4/4406
1 c.1767C>T r.(=) p.(=) g.128040960G>A Copied from the Exome Variant Server THEMIS_000022 12/13006 0/8600 12/4406
1 c.1779C>G r.(=) p.(=) g.128040948G>C Copied from the Exome Variant Server THEMIS_000021 2/13006 0/8600 2/4406
1 c.1790A>G r.(?) p.(His597Arg) g.128040937T>C Copied from the Exome Variant Server THEMIS_000020 2/13006 2/8600 0/4406
1 c.1802C>T r.(?) p.(Ala601Val) g.128040925G>A Copied from the Exome Variant Server THEMIS_000019 11/13006 0/8600 11/4406
1 c.1810G>A r.(?) p.(Asp604Asn) g.128040917C>T Copied from the Exome Variant Server THEMIS_000018 1/13006 1/8600 0/4406
1 c.1828G>A r.(?) p.(Gly610Ser) g.128040899C>T Copied from the Exome Variant Server THEMIS_000017 1/13006 1/8600 0/4406
1 c.1829G>A r.(?) p.(Gly610Asp) g.128040898C>T Copied from the Exome Variant Server THEMIS_000016 4/13006 4/8600 0/4406
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