Data Browser v1

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


Gene: GABRB3 Variant Count: 10   RVIS Percentile: 22.3579%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
15-26793024-A-G GABRB3 ENST00000311550 N446 synonymous 1 335 0.0015 5.372
15-26806154-G-A GABRB3 ENST00000311550 G335 synonymous 4 335 0.006 9.997
15-26806254-T-C GABRB3 ENST00000311550 Y302C missense 1 335 0.0015 21.5
15-26812780-C-T GABRB3 ENST00000311550 S261 synonymous 22 335 0.0328 0.079
15-26825489-G-A GABRB3 ENST00000311550 S220L missense 1 331 0.0015 36.0
15-26825545-G-A GABRB3 ENST00000311550 T201 synonymous 4 334 0.006 9.079
15-26828484-T-C GABRB3 ENST00000554556 *106W stop lost 1 334 0.0015 15.98
15-26866564-C-T GABRB3 ENST00000311550 D120N missense 1 335 0.0015 36.0
15-26866594-T-C GABRB3 ENST00000311550 N110D missense 1 335 0.0015 21.7
15-27018797-G-A GABRB3 ENST00000299267 P25 synonymous 5 16 0.1562 12.41