Data Browser v1

Examples - Gene: DNM1, Region: 15:26792932-26818879, Variant: 9-140043500-G-A


Gene: DNM1 Variant Count: 9   RVIS Percentile: 19.5447%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
9-130980937-G-A DNM1 ENST00000372923 E104 synonymous 48 328 0.0732 12.65
9-130981392-C-G DNM1 ENST00000372923 P150 synonymous 1 334 0.0015 8.791
9-130981471-G-C DNM1 ENST00000372923 A177P missense 1 317 0.0016 33.0
9-130982295-G-C DNM1 ENST00000372923 K206N missense 1 335 0.0015 19.61
9-130984755-C-T DNM1 ENST00000372923 F336 synonymous 189 249 0.3795 9.499
9-130984809-C-T DNM1 ENST00000482638 T1M initiator codon 44 333 0.0661 9.699
9-130984823-G-C DNM1 ENST00000372923 G359A missense 1 335 0.0015 22.5
9-131004570-G-A DNM1 ENST00000372923 K539 synonymous 1 335 0.0015 8.695
9-131004599-A-G DNM1 ENST00000372923 N549S missense 1 331 0.0015 1.953