All transcript variants in gene CASQ1

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

51 entries on 1 page. Showing entries 1 - 51.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. - c.-84T>G r.(=) p.(=) g.160160458T>G - CASQ1_000001 rs184108726 0.005814 3 516 5592 - - Admin
./. - c.215A>G r.(?) p.(His72Arg) g.160160756A>G - CASQ1_000002 rs74123281 0.007752 4 516 9094 - - Admin
./. - c.237G>A r.(=) p.(=) g.160160778G>A - CASQ1_000003 rs74123282 0.003876 2 516 8478 - - Admin
./. - c.260T>C r.(?) p.(Met87Thr) g.160160801T>C - CASQ1_000004 rs150330307 0.005814 3 516 7007 - - Admin
./. - c.279+45C>T r.(=) p.(=) g.160160865C>T - CASQ1_000005 rs41265773 0.007752 4 516 3332 - - Admin
./. - c.279+75G>C r.(=) p.(=) g.160160895G>C - CASQ1_000006 rs149468328 0.003953 2 506 2176 - - Admin
./. - c.280-85C>A r.(=) p.(=) g.160162507C>A - CASQ1_000007 rs61123952 0.001938 1 516 5474 - - Admin
./. - c.280-1G>C r.spl? p.? g.160162591G>C - CASQ1_000008 rs145486953 0.001938 1 516 5633 - - Admin
./. - c.364+9G>T r.(=) p.(=) g.160162685G>T - CASQ1_000009 rs115023646 0.003876 2 516 3234 - - Admin
./. - c.365-91C>T r.(=) p.(=) g.160163446C>T - CASQ1_000010 rs3747621 0.481 248 516 2904 - - Admin
./. - c.365-88G>C r.(=) p.(=) g.160163449G>C - CASQ1_000011 rs3747622 0.134 69 514 3068 - - Admin
./. - c.365-39_365-15del r.(=) p.(=) g.160163498_160163522del - CASQ1_000012 rs554168380 0.003876 2 516 5271 - - Admin
./. - c.365-28C>T r.(=) p.(=) g.160163509C>T - CASQ1_000013 rs3747623 0.329 170 516 5971 - - Admin
./. - c.419A>T r.(?) p.(Tyr140Phe) g.160163591A>T - CASQ1_000014 rs34489853 0.003876 2 516 8949 - - Admin
./. - c.441C>T r.(=) p.(=) g.160163613C>T - CASQ1_000015 rs902559647 0.003876 2 516 8977 2 0 Admin
./. - c.447C>T r.(=) p.(=) g.160163619C>T - CASQ1_000016 rs138196284 0.005814 3 516 8875 - - Admin
./. - c.448G>T r.(?) p.(Val150Leu) g.160163620G>T - CASQ1_000017 rs775466623 0.003876 2 516 8827 - - Admin
./. - c.465+139A>C r.(=) p.(=) g.160163776A>C - CASQ1_000018 rs1312902787 0.001938 1 516 1928 1 0 Admin
./. - c.465+145C>T r.(=) p.(=) g.160163782C>T - CASQ1_000019 rs377212815 0.003922 2 510 1760 - - Admin
./. - c.466-145C>A r.(=) p.(=) g.160164657C>A - CASQ1_000020 rs111485344 0.002016 1 496 1203 - - Admin
./. - c.466-134T>C r.(=) p.(=) g.160164668T>C - CASQ1_000021 rs1186693 0.977 434 444 1306 - - Admin
./. - c.466-43T>C r.(=) p.(=) g.160164759T>C - CASQ1_000022 rs748394323 0.001938 1 516 3861 - - Admin
./. - c.578-156A>C r.(=) p.(=) g.160165095A>C - CASQ1_000023 rs2275703 0.431 220 510 2739 - - Admin
./. - c.578-135C>T r.(=) p.(=) g.160165116C>T - CASQ1_000024 rs114473633 0.001938 1 516 4051 - - Admin
./. - c.578-5C>G r.spl? p.? g.160165246C>G - CASQ1_000025 rs78149381 0.00969 5 516 9269 - - Admin
./. - c.651+118_651+119insC r.(=) p.(=) g.160165442_160165443insC - CASQ1_000026 rs796580606 - - - - - - Admin
./. - c.651+118_651+119insCC r.(=) p.(=) g.160165442_160165443insCC - CASQ1_000027 rs796580606 - - - - - - Admin
./. - c.651+120C>T r.(=) p.(=) g.160165444C>T - CASQ1_000028 rs565793706 0.006073 3 494 2483 - - Admin
./. - c.651+123_651+124insG r.(=) p.(=) g.160165447_160165448insG - CASQ1_000029 rs148763382 - - - - - - Admin
./. - c.651+125C>A r.(=) p.(=) g.160165449C>A - CASQ1_000030 rs371052772 0.001976 1 506 2344 26 7 Admin
./. - c.651+125C>G r.(=) p.(=) g.160165449C>G - CASQ1_000031 rs371052772 0.001976 1 506 2344 26 7 Admin
./. - c.651+125_651+126insA r.(=) p.(=) g.160165449_160165450insA - CASQ1_000032 rs371052772 - - - - - - Admin
./. - c.651+127C>T r.(=) p.(=) g.160165451C>T - CASQ1_000033 rs10908769 0.478 241 504 2116 - - Admin
./. - c.652-126_652-125del r.(=) p.(=) g.160165561_160165562del - CASQ1_000034 rs138817826 0.00969 5 516 3543 - - Admin
./. - c.652-115T>A r.(=) p.(=) g.160165572T>A - CASQ1_000035 rs60043899 0.141 73 516 3994 - - Admin
./. - c.652-102G>A r.(=) p.(=) g.160165585G>A - CASQ1_000036 rs150969951 0.005814 3 516 4363 - - Admin
./. - c.652-15C>T r.(=) p.(=) g.160165672C>T - CASQ1_000037 rs3818952 0.00969 5 516 7939 - - Admin
./. - c.782+34G>A r.(=) p.(=) g.160165851G>A - CASQ1_000038 rs74123284 0.003876 2 516 2895 - - Admin
./. - c.783-133C>A r.(=) p.(=) g.160167226C>A - CASQ1_000039 rs1051329400 0.003876 2 516 5854 2 0 Admin
./. - c.783-45T>A r.(=) p.(=) g.160167314T>A - CASQ1_000040 rs74123285 0.00969 5 516 9454 - - Admin
./. - c.828+132T>C r.(=) p.(=) g.160167536T>C - CASQ1_000041 rs115814605 0.007782 4 514 2144 - - Admin
./. - c.829-151_829-150insA r.(=) p.(=) g.160168316_160168317insA - CASQ1_000042 rs200594963 - - - - - - Admin
./. - c.829-150A>C r.(=) p.(=) g.160168317A>C - CASQ1_000043 - 0.001946 1 514 3758 1 0 Admin
./. - c.829-99G>A r.(=) p.(=) g.160168368G>A - CASQ1_000044 rs822450 0.388 200 516 8618 - - Admin
./. - c.883+106G>C r.(=) p.(=) g.160168627G>C - CASQ1_000045 rs147766105 0.001938 1 516 5251 - - Admin
./. - c.913G>A r.(?) p.(Ala305Thr) g.160168772G>A - CASQ1_000046 rs373107402 0.001938 1 516 8659 - - Admin
./. - c.925G>A r.(?) p.(Asp309Asn) g.160168784G>A - CASQ1_000047 rs1046507393 0.001938 1 516 8797 1 0 Admin
./. - c.985-168T>C r.(=) p.(=) g.160169473T>C - CASQ1_000048 rs959166 0.996 504 506 2161 - - Admin
./. - c.1059+58G>A r.(=) p.(=) g.160169773G>A - CASQ1_000049 rs12133035 0.007752 4 516 4369 - - Admin
./. - c.1059+67C>T r.(=) p.(=) g.160169782C>T - CASQ1_000050 rs116660478 0.007752 4 516 3850 - - Admin
./. - c.1089T>G r.(?) p.(Asp363Glu) g.160171064T>G - CASQ1_000051 - 0.001938 1 516 8206 1 0 Admin
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