Unique variants in gene ACVR1

Information The variants shown are described using the NM_001105.4 transcript reference sequence.

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

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.67+55_67+56insT r.(=) p.(=) g.158655883_158655884insA - ACVR1_000025 rs111834201 - - - - - - Admin
./. 1 - c.67+55_67+56insTT r.(=) p.(=) g.158655883_158655884insAA - ACVR1_000024 rs111834201 - - - - - - Admin
./. 1 - c.68-26T>C r.(=) p.(=) g.158637138A>G - ACVR1_000023 rs35392775 0.064 33 516 5605 - - Admin
./. 1 - c.68-25del r.(=) p.(=) g.158637137del - ACVR1_000021 rs531577356 0.054 28 516 5666 - - Admin
./. 1 - c.68-25T>C r.(=) p.(=) g.158637137A>G - ACVR1_000022 rs1866885 0.717 367 512 4759 - - Admin
./. 1 - c.68-21_68-20insC r.(=) p.(=) g.158637132_158637133insG - ACVR1_000020 rs374791093 - - - - - - Admin
./. 1 - c.270C>T r.(=) p.(=) g.158636910G>A - ACVR1_000019 rs2227861 0.69 356 516 11316 - - Admin
./. 1 - c.332-108G>A r.(=) p.(=) g.158634962C>T - ACVR1_000018 - 0.001961 1 510 1662 1 - Admin
./. 1 - c.332-65G>C r.(=) p.(=) g.158634919C>G - ACVR1_000017 rs185222913 0.001938 1 516 3015 - - Admin
./. 1 - c.467G>T r.(?) p.(Arg156Leu) g.158634719C>A - ACVR1_000016 rs755732603 0.001938 1 516 9118 1 - Admin
./. 1 - c.544-112C>T r.(=) p.(=) g.158630811G>A - ACVR1_000015 rs73022059 0.039 20 516 4787 - - Admin
./. 1 - c.544-30G>A r.(=) p.(=) g.158630729C>T - ACVR1_000014 rs113952557 0.001938 1 516 6860 - - Admin
./. 1 - c.643+7C>T r.(=) p.(=) g.158630593G>A - ACVR1_000013 rs12105152 0.005814 3 516 4428 - - Admin
./. 1 - c.690G>A r.(=) p.(=) g.158626980C>T - ACVR1_000012 rs1146031 0.926 478 516 6327 - - Admin
./. 1 - c.790+69C>T r.(=) p.(=) g.158626811G>A - ACVR1_000011 rs111840363 0.001938 1 516 2113 - - Admin
./. 1 - c.791-54T>A r.(=) p.(=) g.158622762A>T - ACVR1_000010 - 0.001938 1 516 2733 1 - Admin
./. 1 - c.870G>A r.(=) p.(=) g.158622629C>T - ACVR1_000009 rs548498262 0.001938 1 516 8519 - - Admin
./. 1 - c.1086C>A r.(=) p.(=) g.158617570G>T - ACVR1_000008 rs149498219 0.001938 1 516 4024 - - Admin
./. 1 - c.1131C>T r.(=) p.(=) g.158617525G>A - ACVR1_000007 rs56189710 0.00969 5 516 4444 - - Admin
./. 1 - c.1264+111G>A r.(=) p.(=) g.158617281C>T - ACVR1_000006 rs73022045 0.00431 2 464 666 - - Admin
./. 1 - c.1396-138G>A r.(=) p.(=) g.158594315C>T - ACVR1_000005 rs3738926 0.007782 4 514 1843 - - Admin
./. 1 - c.1396-93G>A r.(=) p.(=) g.158594270C>T - ACVR1_000004 rs16842009 0.005814 3 516 3830 - - Admin
./. 1 - c.1513T>C r.(=) p.(=) g.158594060A>G - ACVR1_000003 rs3738927 0.014 7 516 6683 - - Admin
./. 1 - c.*33G>A r.(=) p.(=) g.158594010C>T - ACVR1_000002 rs372186308 0.001938 1 516 4687 - - Admin
./. 1 - c.*45G>T r.(=) p.(=) g.158593998C>A - ACVR1_000001 rs12936 0.00969 5 516 4216 - - Admin
Legend