Unique variants in gene ACTC1

Information The variants shown are described using the NM_005159.4 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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.129+21C>G r.(=) p.(=) g.35086860G>C - ACTC1_000024 rs181013324 0.001938 1 516 9414 - - Admin
./. 1 - c.129+23_129+24insC r.(=) p.(=) g.35086857_35086858insG - ACTC1_000023 rs796419242 - - - - - - Admin
./. 1 - c.129+32C>A r.(=) p.(=) g.35086849G>T - ACTC1_000022 rs76013827 0.003876 2 516 9529 - - Admin
./. 1 - c.129+43C>A r.(=) p.(=) g.35086838G>T - ACTC1_000021 rs183632308 0.003876 2 516 9400 - - Admin
./. 1 - c.129+118G>A r.(=) p.(=) g.35086763C>T - ACTC1_000020 rs78848103 0.016 8 516 8394 - - Admin
./. 1 - c.130-127G>C r.(=) p.(=) g.35085897C>G - ACTC1_000019 rs7165006 0.073 37 506 1836 - - Admin
./. 1 - c.130-9T>C r.(=) p.(=) g.35085779A>G - ACTC1_000018 rs147406641 0.001938 1 516 6793 - - Admin
./. 1 - c.399C>T r.(=) p.(=) g.35085501G>A - ACTC1_000017 rs764630691 0.001938 1 516 9693 - - Admin
./. 1 - c.454+55C>G r.(=) p.(=) g.35085391G>C - ACTC1_000016 rs983260254 0.001938 1 516 8572 1 - Admin
./. 1 - c.455-63G>T r.(=) p.(=) g.35084833C>A - ACTC1_000015 rs896198613 0.001938 1 516 7518 1 - Admin
./. 1 - c.455-48G>C r.(=) p.(=) g.35084818C>G - ACTC1_000014 rs78697034 0.019 10 516 8795 - - Admin
./. 1 - c.455-19_455-18insTCTT r.(=) p.(=) g.35084788_35084789insAAGA - ACTC1_000013 - - - - - - - Admin
./. 1 - c.456C>T r.(=) p.(=) g.35084769G>A - ACTC1_000012 rs771310484 0.001938 1 516 9595 - - Admin
./. 1 - c.575T>C r.(?) p.(Met192Thr) g.35084650A>G - ACTC1_000011 - 0.001938 1 516 9613 1 - Admin
./. 1 - c.809-67G>A r.(=) p.(=) g.35083563C>T - ACTC1_000010 rs115415793 0.007782 4 514 2329 - - Admin
./. 1 - c.809-30_809-29dup r.(=) p.(=) g.35083525_35083526dup - ACTC1_000009 rs113062201 0.014 7 516 7965 - - Admin
./. 1 - c.809-30_809-27del r.(=) p.(=) g.35083523_35083526del - ACTC1_000008 rs113062201 0.014 7 516 7965 - - Admin
./. 1 - c.809-30_809-27dup r.(=) p.(=) g.35083523_35083526dup - ACTC1_000007 rs113062201 0.014 7 516 7965 - - Admin
./. 1 - c.809-30_809-19del r.(=) p.(=) g.35083515_35083526del - ACTC1_000006 rs113062201 0.014 7 516 7965 - - Admin
./. 1 - c.809-30_809-15del r.(=) p.(=) g.35083511_35083526del - ACTC1_000004 rs113062201 0.014 7 516 7965 - - Admin
./. 1 - c.809-30_809-13del r.(=) p.(=) g.35083509_35083526del - ACTC1_000003 rs113062201 0.014 7 516 7965 - - Admin
./. 1 - c.809-17G>C r.(=) p.(=) g.35083513C>G - ACTC1_000005 - 0.012 6 510 3162 - - Admin
./. 1 - c.927T>C r.(=) p.(=) g.35083378A>G - ACTC1_000002 rs2307493 0.014 7 516 7965 - - Admin
./. 1 - c.990+64C>T r.(=) p.(=) g.35083251G>A - ACTC1_000001 rs2307494 0.007782 4 514 2349 - - Admin
Legend