Data Browser v1

Examples - Gene: DNM1, Region: 15:26792932-26818879, Variant: 9-140509398-A-G


Gene: EHMT1 Variant Count: 23   RVIS Percentile: 3.13163%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
9-140611120-C-G EHMT1 ENST00000460843 A43G missense 1 168 0.003 9.69
9-140611121-A-T EHMT1 ENST00000460843 - synonymous 5 168 0.0149 2.49
9-140611140-G-A EHMT1 ENST00000460843 A50T missense 1 168 0.003 6.852
9-140611290-G-A EHMT1 ENST00000460843 D100N missense 1 169 0.003 25.3
9-140611308-C-G EHMT1 ENST00000460843 Q106E missense 1 169 0.003 14.11
9-140611424-C-T EHMT1 ENST00000460843 - synonymous 2 169 0.0059 13.97
9-140611436-T-C EHMT1 ENST00000460843 - synonymous 67 157 0.2134 2.67
9-140611518-C-T EHMT1 ENST00000460843 P176S missense 1 168 0.003 0.948
9-140611587-A-G EHMT1 ENST00000460843 K199E missense 1 168 0.003 22.2
9-140637837-G-T EHMT1 ENST00000460843 V280F missense 1 151 0.0033 17.23
9-140638416-G-A EHMT1 ENST00000460843 - synonymous 46 163 0.1411 12.61
9-140638461-T-C EHMT1 ENST00000460843 - synonymous 79 137 0.2883 0.095
9-140638534-G-A EHMT1 ENST00000460843 A388T missense 5 169 0.0148 1.291
9-140638538-A-G EHMT1 ENST00000460843 Q389R missense 1 169 0.003 0.07
9-140646788-C-T EHMT1 ENST00000460843 - synonymous 1 168 0.003 18.94
9-140648742-C-T EHMT1 ENST00000460843 - synonymous; splice region 27 168 0.0804 2.85
9-140671147-C-T EHMT1 ENST00000460843 - synonymous 3 169 0.0089 15.05
9-140695419-A-G EHMT1 ENST00000460843 I899V missense 1 169 0.003 15.07
9-140707590-C-T EHMT1 ENST00000460843 - synonymous 3 141 0.0106 12.32
9-140707606-G-A EHMT1 ENST00000460843 V1006M missense 2 138 0.0072 13.45
9-140707889-G-A EHMT1 ENST00000460843 - synonymous 6 168 0.0179 8.17
9-140728947-C-T EHMT1 ENST00000460843 - synonymous 1 167 0.003 14.27
9-140729356-A-C EHMT1 ENST00000460843 E1283A missense 1 166 0.003 26.7