Data Browser v2

Examples - Gene: TBK1, Region: 21:33032075-33040899, Variant: 14-21162090-G-A


Gene: PRPH Variant Count: 17   RVIS Percentile: 55.4494%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
12-49689009-G-A PRPH ENST00000257860 R9Q missense 5 349 0.0072 24.1
12-49689046-C-T PRPH ENST00000257860 21F synonymous 11 586 0.0094 18.45
12-49689050-C-T PRPH ENST00000257860 P23S missense 1 638 7.837E-4 18.23
12-49689255-T-C PRPH ENST00000257860 L91P missense 1 2467 2.027E-4 26.4
12-49689404-G-T PRPH ENST00000257860 D141Y missense 17 2077 0.0041 27.4
12-49689963-T-TG PRPH ENST00000257860 183 frameshift 1 2562 1.952E-4 -
12-49690265-G-C PRPH ENST00000257860 E219D missense 1 2628 1.903E-4 24.1
12-49690305-G-A PRPH ENST00000257860 E233K missense 1 2628 1.903E-4 35.0
12-49690755-G-A PRPH ENST00000257860 262T synonymous 1 2599 1.924E-4 15.11
12-49690798-G-A PRPH ENST00000257860 A277T missense 80 2618 0.0153 23.3
12-49690821-G-C PRPH ENST00000257860 E284D missense 1 2624 1.905E-4 26.9
12-49691057-G-A PRPH ENST00000257860 - splice donor 13 2635 0.0025 24.6
12-49691222-G-T PRPH ENST00000257860 R360L missense 2 2585 3.868E-4 34.0
12-49691226-C-G PRPH ENST00000257860 361L synonymous 64 2579 0.0124 16.04
12-49691250-A-G PRPH ENST00000257860 369K synonymous 878 2510 0.1749 17.24
12-49691337-G-A PRPH ENST00000257860 398K synonymous 1 2590 1.931E-4 17.49
12-49691776-C-T PRPH ENST00000257860 R435W missense 1 2633 1.899E-4 34.0