Unique variants in gene CASQ1

Information The variants shown are described using the NM_001231.4 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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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.21G>A r.(?) p.(Met7Ile) g.160160562G>A Copied from the Exome Variant Server CASQ1_000001 2/13006 0/8600 2/4406
1 c.27C>A r.(=) p.(=) g.160160568C>A Copied from the Exome Variant Server CASQ1_000002 105/13006 2/8600 103/4406
1 c.30A>G r.(=) p.(=) g.160160571A>G Copied from the Exome Variant Server CASQ1_000003 1/13006 1/8600 0/4406
1 c.39G>A r.(=) p.(=) g.160160580G>A Copied from the Exome Variant Server CASQ1_000004 1/13006 0/8600 1/4406
1 c.46C>T r.(?) p.(Arg16Trp) g.160160587C>T Copied from the Exome Variant Server CASQ1_000005 1/13006 1/8600 0/4406
1 c.74T>C r.(?) p.(Leu25Pro) g.160160615T>C Copied from the Exome Variant Server CASQ1_000006 1/13006 1/8600 0/4406
1 c.112C>T r.(=) p.(=) g.160160653C>T Copied from the Exome Variant Server CASQ1_000007 1/13006 1/8600 0/4406
1 c.130G>A r.(?) p.(Asp44Asn) g.160160671G>A Copied from the Exome Variant Server CASQ1_000008 31/13006 10/8600 21/4406
1 c.134G>T r.(?) p.(Gly45Val) g.160160675G>T Copied from the Exome Variant Server CASQ1_000009 9/13006 1/8600 8/4406
1 c.143G>A r.(?) p.(Arg48His) g.160160684G>A Copied from the Exome Variant Server CASQ1_000010 1/13006 1/8600 0/4406
1 c.160G>A r.(?) p.(Ala54Thr) g.160160701G>A Copied from the Exome Variant Server CASQ1_000011 1/13006 1/8600 0/4406
1 c.215A>G r.(?) p.(His72Arg) g.160160756A>G Copied from the Exome Variant Server CASQ1_000012 190/13006 0/8600 190/4406
1 c.225C>T r.(=) p.(=) g.160160766C>T Copied from the Exome Variant Server CASQ1_000013 4/13006 0/8600 4/4406
1 c.226G>A r.(?) p.(Glu76Lys) g.160160767G>A Copied from the Exome Variant Server CASQ1_000014 14/13006 3/8600 11/4406
1 c.237G>A r.(=) p.(=) g.160160778G>A Copied from the Exome Variant Server CASQ1_000015 69/13006 0/8600 69/4406
1 c.260T>C r.(?) p.(Met87Thr) g.160160801T>C Copied from the Exome Variant Server CASQ1_000016 274/13006 247/8600 27/4406
1 c.279+45C>T r.(=) p.(=) g.160160865C>T Copied from the Exome Variant Server CASQ1_000017 172/13006 160/8600 12/4406
1 c.279+48C>T r.(=) p.(=) g.160160868C>T Copied from the Exome Variant Server CASQ1_000018 1/13006 0/8600 1/4406
1 c.280-51_280-50insATCC r.(=) p.(=) g.160162541_160162542insATCC Copied from the Exome Variant Server CASQ1_000019 1/12516 0/8254 1/4262
1 c.280-35C>G r.(=) p.(=) g.160162557C>G Copied from the Exome Variant Server CASQ1_000020 1/13006 0/8600 1/4406
1 c.280-31G>C r.(=) p.(=) g.160162561G>C Copied from the Exome Variant Server CASQ1_000021 1/13006 0/8600 1/4406
1 c.280-20A>G r.(=) p.(=) g.160162572A>G Copied from the Exome Variant Server CASQ1_000022 5/13006 5/8600 0/4406
1 c.280-13T>C r.(=) p.(=) g.160162579T>C Copied from the Exome Variant Server CASQ1_000023 1/13006 1/8600 0/4406
1 c.280-1G>C r.spl? p.? g.160162591G>C Copied from the Exome Variant Server CASQ1_000024 20/13006 19/8600 1/4406
1 c.319G>A r.(?) p.(Gly107Arg) g.160162631G>A Copied from the Exome Variant Server CASQ1_000025 2/13006 2/8600 0/4406
1 c.364+5G>C r.spl? p.? g.160162681G>C Copied from the Exome Variant Server CASQ1_000026 1/13006 0/8600 1/4406
1 c.364+9G>T r.(=) p.(=) g.160162685G>T Copied from the Exome Variant Server CASQ1_000027 60/13006 0/8600 60/4406
1 c.365-28C>T r.(=) p.(=) g.160163509C>T Copied from the Exome Variant Server CASQ1_000028 3772/13006 3317/8600 455/4406
1 c.365-27C>T r.(=) p.(=) g.160163510C>T Copied from the Exome Variant Server CASQ1_000029 1/13006 0/8600 1/4406
1 c.365-11T>A r.(=) p.(=) g.160163526T>A Copied from the Exome Variant Server CASQ1_000031 1/13006 1/8600 0/4406
1 c.365-10C>T r.(=) p.(=) g.160163527C>T Copied from the Exome Variant Server CASQ1_000033 1/13006 1/8600 0/4406
1 c.419A>T r.(?) p.(Tyr140Phe) g.160163591A>T Copied from the Exome Variant Server CASQ1_000035 284/13006 6/8600 278/4406
1 c.421G>A r.(?) p.(Asp141Asn) g.160163593G>A Copied from the Exome Variant Server CASQ1_000037 1/13006 1/8600 0/4406
1 c.443C>T r.(?) p.(Thr148Ile) g.160163615C>T Copied from the Exome Variant Server CASQ1_000039 4/13004 0/8598 4/4406
1 c.447C>T r.(=) p.(=) g.160163619C>T Copied from the Exome Variant Server CASQ1_000041 23/13004 22/8598 1/4406
1 c.451G>T r.(?) p.(Glu151*) g.160163623G>T Copied from the Exome Variant Server CASQ1_000043 1/13004 0/8598 1/4406
1 c.453G>T r.(?) p.(Glu151Asp) g.160163625G>T Copied from the Exome Variant Server CASQ1_000045 1/13004 0/8598 1/4406
1 c.465+32T>C r.(=) p.(=) g.160163669T>C Copied from the Exome Variant Server CASQ1_000030 1/13004 1/8598 0/4406
1 c.466-18A>G r.(=) p.(=) g.160164784A>G Copied from the Exome Variant Server CASQ1_000032 1/13006 0/8600 1/4406
1 c.491T>C r.(?) p.(Ile164Thr) g.160164827T>C Copied from the Exome Variant Server CASQ1_000034 5/13006 5/8600 0/4406
1 c.516G>A r.(=) p.(=) g.160164852G>A Copied from the Exome Variant Server CASQ1_000036 15/13006 12/8600 3/4406
1 c.548T>C r.(?) p.(Ile183Thr) g.160164884T>C Copied from the Exome Variant Server CASQ1_000038 1/13006 1/8600 0/4406
1 c.570C>T r.(=) p.(=) g.160164906C>T Copied from the Exome Variant Server CASQ1_000040 2/13006 2/8600 0/4406
1 c.577+13C>T r.(=) p.(=) g.160164926C>T Copied from the Exome Variant Server CASQ1_000042 1/13006 0/8600 1/4406
1 c.578-52del r.(=) p.(=) g.160165199del Copied from the Exome Variant Server CASQ1_000044 37/12520 29/8254 8/4266
1 c.578-49G>A r.(=) p.(=) g.160165202G>A Copied from the Exome Variant Server CASQ1_000046 3/13006 1/8600 2/4406
1 c.578-5C>G r.spl? p.? g.160165246C>G Copied from the Exome Variant Server CASQ1_000047 10/13006 5/8600 5/4406
1 c.578-3C>G r.spl? p.? g.160165248C>G Copied from the Exome Variant Server CASQ1_000048 1/13006 1/8600 0/4406
1 c.581A>G r.(?) p.(Tyr194Cys) g.160165254A>G Copied from the Exome Variant Server CASQ1_000049 1/13006 1/8600 0/4406
1 c.589T>C r.(?) p.(Phe197Leu) g.160165262T>C Copied from the Exome Variant Server CASQ1_000050 1/13006 0/8600 1/4406
1 c.591C>T r.(=) p.(=) g.160165264C>T Copied from the Exome Variant Server CASQ1_000051 2/13006 1/8600 1/4406
1 c.592G>A r.(?) p.(Glu198Lys) g.160165265G>A Copied from the Exome Variant Server CASQ1_000052 1/13006 1/8600 0/4406
1 c.651+9C>A r.(=) p.(=) g.160165333C>A Copied from the Exome Variant Server CASQ1_000053 1/13006 0/8600 1/4406
1 c.651+21A>G r.(=) p.(=) g.160165345A>G Copied from the Exome Variant Server CASQ1_000054 5/13006 0/8600 5/4406
1 c.651+35A>C r.(=) p.(=) g.160165359A>C Copied from the Exome Variant Server CASQ1_000055 18/13006 17/8600 1/4406
1 c.652-28C>A r.(=) p.(=) g.160165659C>A Copied from the Exome Variant Server CASQ1_000056 1/13006 1/8600 0/4406
1 c.652-23C>G r.(=) p.(=) g.160165664C>G Copied from the Exome Variant Server CASQ1_000057 1/13006 1/8600 0/4406
1 c.652-17T>A r.(=) p.(=) g.160165670T>A Copied from the Exome Variant Server CASQ1_000058 3/13006 0/8600 3/4406
1 c.652-15C>T r.(=) p.(=) g.160165672C>T Copied from the Exome Variant Server CASQ1_000059 197/13006 3/8600 194/4406
1 c.657A>G r.(=) p.(=) g.160165692A>G Copied from the Exome Variant Server CASQ1_000060 3/13006 0/8600 3/4406
1 c.660G>T r.(?) p.(Lys220Asn) g.160165695G>T Copied from the Exome Variant Server CASQ1_000061 1/13006 1/8600 0/4406
1 c.726C>A r.(=) p.(=) g.160165761C>A Copied from the Exome Variant Server CASQ1_000062 1/13006 1/8600 0/4406
1 c.744C>T r.(=) p.(=) g.160165779C>T Copied from the Exome Variant Server CASQ1_000063 1/13006 0/8600 1/4406
1 c.782+28G>A r.(=) p.(=) g.160165845G>A Copied from the Exome Variant Server CASQ1_000064 5/13006 1/8600 4/4406
1 c.782+33C>T r.(=) p.(=) g.160165850C>T Copied from the Exome Variant Server CASQ1_000065 1/13006 0/8600 1/4406
1 c.782+34G>A r.(=) p.(=) g.160165851G>A Copied from the Exome Variant Server CASQ1_000066 202/13006 2/8600 200/4406
1 c.782+40T>G r.(=) p.(=) g.160165857T>G Copied from the Exome Variant Server CASQ1_000067 1/13006 0/8600 1/4406
1 c.783-50G>T r.(=) p.(=) g.160167309G>T Copied from the Exome Variant Server CASQ1_000068 1/13006 1/8600 0/4406
1 c.783-45T>A r.(=) p.(=) g.160167314T>A Copied from the Exome Variant Server CASQ1_000069 300/13006 1/8600 299/4406
1 c.828+16C>T r.(=) p.(=) g.160167420C>T Copied from the Exome Variant Server CASQ1_000070 19/13006 0/8600 19/4406
1 c.828+54_828+55insTCAAG r.(=) p.(=) g.160167458_160167459insTCAAG Copied from the Exome Variant Server CASQ1_000071 3/12520 1/8254 2/4266
1 c.854T>C r.(?) p.(Ile285Thr) g.160168492T>C Copied from the Exome Variant Server CASQ1_000072 1/13006 0/8600 1/4406
1 c.883+17G>A r.(=) p.(=) g.160168538G>A Copied from the Exome Variant Server CASQ1_000073 2/13006 0/8600 2/4406
1 c.883+39G>C r.(=) p.(=) g.160168560G>C Copied from the Exome Variant Server CASQ1_000074 1/13006 0/8600 1/4406
1 c.884-25A>G r.(=) p.(=) g.160168718A>G Copied from the Exome Variant Server CASQ1_000075 18/13006 0/8600 18/4406
1 c.891C>T r.(=) p.(=) g.160168750C>T Copied from the Exome Variant Server CASQ1_000076 3/13006 0/8600 3/4406
1 c.913G>A r.(?) p.(Ala305Thr) g.160168772G>A Copied from the Exome Variant Server CASQ1_000077 1/13006 0/8600 1/4406
1 c.985-50C>T r.(=) p.(=) g.160169591C>T Copied from the Exome Variant Server CASQ1_000078 2/13006 2/8600 0/4406
1 c.994T>C r.(?) p.(Tyr332His) g.160169650T>C Copied from the Exome Variant Server CASQ1_000079 1/13006 0/8600 1/4406
1 c.1008G>A r.(=) p.(=) g.160169664G>A Copied from the Exome Variant Server CASQ1_000080 3/13006 3/8600 0/4406
1 c.1059T>C r.(=) p.(=) g.160169715T>C Copied from the Exome Variant Server CASQ1_000082 1/13006 1/8600 0/4406
1 c.1059+58G>A r.(=) p.(=) g.160169773G>A Copied from the Exome Variant Server CASQ1_000084 63/4566 59/3182 4/1384
1 c.1060-43C>T r.(=) p.(=) g.160170992C>T Copied from the Exome Variant Server CASQ1_000087 1/13006 1/8600 0/4406
1 c.1060-25C>T r.(=) p.(=) g.160171010C>T Copied from the Exome Variant Server CASQ1_000089 1/13006 1/8600 0/4406
1 c.1060-17C>A r.(=) p.(=) g.160171018C>A Copied from the Exome Variant Server CASQ1_000091 13/13006 11/8600 2/4406
1 c.1061C>T r.(?) p.(Ala354Val) g.160171036C>T Copied from the Exome Variant Server CASQ1_000092 3/13006 1/8600 2/4406
1 c.1078G>T r.(?) p.(Glu360*) g.160171053G>T Copied from the Exome Variant Server CASQ1_000093 1/13006 1/8600 0/4406
1 c.1083G>A r.(?) p.(Met361Ile) g.160171058G>A Copied from the Exome Variant Server CASQ1_000081 2/13006 0/8600 2/4406
1 c.1110T>C r.(=) p.(=) g.160171085T>C Copied from the Exome Variant Server CASQ1_000083 1/13006 1/8600 0/4406
1 c.1154T>C r.(?) p.(Ile385Thr) g.160171129T>C Copied from the Exome Variant Server CASQ1_000085 2/13006 2/8600 0/4406
1 c.1174_1179del r.(?) p.(Asp395*) g.160171149_160171154del Copied from the Exome Variant Server CASQ1_000086 1/12520 1/8254 0/4266
1 c.1185T>C r.(=) p.(=) g.160171160T>C Copied from the Exome Variant Server CASQ1_000088 4/13006 1/8600 3/4406
1 c.*8G>A r.(=) p.(=) g.160171174G>A Copied from the Exome Variant Server CASQ1_000090 1/13006 0/8600 1/4406
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