Unique variants in gene F13B

Information The variants shown are described using the NM_001994.2 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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Effect     

Reported     

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     
./. 1 - c.64+17A>T r.(=) p.(=) g.197036273T>A - F13B_000025 rs201705097 0.001984 1 504 1387 - - Admin
./. 1 - c.344G>A r.(?) p.(Arg115His) g.197031021C>T - F13B_000024 rs6003 0.824 425 516 4608 - - Admin
./. 1 - c.451+51T>C r.(=) p.(=) g.197030863A>G - F13B_000023 rs17514556 0.001969 1 508 1512 - - Admin
./. 1 - c.451+85T>A r.(=) p.(=) g.197030829A>T - F13B_000022 rs5993 0.085 33 388 583 - - Admin
./. 1 - c.452-44G>T r.(=) p.(=) g.197030249C>A - F13B_000021 rs200337513 0.005495 2 364 391 - - Admin
./. 1 - c.452-33del r.(=) p.(=) g.197030238del - F13B_000020 rs17549277 0.826 423 512 2526 - - Admin
./. 1 - c.456A>G r.(=) p.(=) g.197030201T>C - F13B_000019 rs5997 0.826 423 512 2526 - - Admin
./. 1 - c.628+56A>G r.(=) p.(=) g.197029973T>C - F13B_000018 rs190518227 0.007752 4 516 4210 - - Admin
./. 1 - c.765C>T r.(=) p.(=) g.197029536G>A - F13B_000017 rs5994 0.003876 2 516 5206 - - Admin
./. 1 - c.805+151C>T r.(=) p.(=) g.197029345G>A - F13B_000016 rs1332661 0.296 81 274 371 - - Admin
./. 1 - c.806-87_806-86insGGCGGTCGGTGGTTGTGCGACTGCCGACGCCAAATAATGGCACTT r.(=) p.(=) g.197026681_197026682insAAGTGCCATTATTTGGCGTCGGCAGTCGCACAACCACCGACCGCC - F13B_000015 - - - - - - - Admin
./. 1 - c.806-84_806-83insC r.(=) p.(=) g.197026678_197026679insG - F13B_000014 - - - - - - - Admin
./. 1 - c.806-77T>C r.(=) p.(=) g.197026672A>G - F13B_000013 rs1759009 0.802 271 338 581 - - Admin
./. 1 - c.1025T>C r.(?) p.(Ile342Thr) g.197026289A>G - F13B_000012 rs17514281 0.025 13 516 6777 - - Admin
./. 1 - c.1049A>G r.(?) p.(His350Arg) g.197026265T>C - F13B_000011 rs5999 0.003876 2 516 6672 - - Admin
./. 1 - c.1285T>C r.(?) p.(Tyr429His) g.197024914A>G - F13B_000010 rs201427054 0.001938 1 516 6374 - - Admin
./. 1 - c.1556-13C>A r.(=) p.(=) g.197020022G>T - F13B_000009 rs149088047 0.001938 1 516 3119 - - Admin
./. 1 - c.1556-3C>T r.spl? p.? g.197020012G>A - F13B_000008 - 0.001938 1 516 3695 1 - Admin
./. 1 - c.1707T>G r.(?) p.(Asp569Glu) g.197019858A>C - F13B_000007 rs6000 0.003876 2 516 6668 - - Admin
./. 1 - c.1739-8_1739-6del r.(=) p.(=) g.197009871_197009873del - F13B_000006 rs556380704 0.00969 5 516 2427 - - Admin
./. 1 - c.1806T>C r.(=) p.(=) g.197009798A>G - F13B_000005 rs5998 0.484 250 516 4003 - - Admin
./. 1 - c.1953-140_1953-137del r.(=) p.(=) g.197008678_197008681del - F13B_000004 - 0.001938 1 516 3709 1 - Admin
./. 1 - c.1953-88T>C r.(=) p.(=) g.197008629A>G - F13B_000003 rs138524182 0.001938 1 516 3794 - - Admin
./. 1 - c.1953-56T>G r.(=) p.(=) g.197008597A>C - F13B_000002 rs5990 0.488 252 516 5397 - - Admin
./. 1 - c.*89G>C r.(=) p.(=) g.197008419C>G - F13B_000001 rs17549873 0.003891 2 514 1465 - - Admin
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