Data Browser v2

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


Gene: ERBB4 Variant Count: 65   RVIS Percentile: 1.78698%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
2-212248444-G-A ERBB4 ENST00000342788 R1275W missense 1 2522 1.983E-4 33.0
2-212248464-T-C ERBB4 ENST00000342788 Y1268C missense 1 2543 1.966E-4 23.5
2-212248520-A-C ERBB4 ENST00000342788 1249P synonymous 1 2589 1.931E-4 0.106
2-212248637-G-A ERBB4 ENST00000342788 1210N synonymous 1 2536 1.972E-4 3.052
2-212248664-C-T ERBB4 ENST00000342788 1201E synonymous 1 2504 1.997E-4 12.25
2-212248709-G-A ERBB4 ENST00000342788 1186P synonymous 1 2435 2.053E-4 8.543
2-212251659-C-T ERBB4 ENST00000342788 V1134M missense 1 2621 1.908E-4 25.4
2-212251725-G-A ERBB4 ENST00000342788 R1112C missense 2 2589 3.862E-4 24.2
2-212251806-T-C ERBB4 ENST00000342788 T1085A missense 1 2536 1.972E-4 0.021
2-212251819-G-A ERBB4 ENST00000342788 1080P synonymous 1 2532 1.975E-4 3.147
2-212251859-C-T ERBB4 ENST00000342788 R1067Q missense 1 2460 2.033E-4 22.5
2-212251864-T-C ERBB4 ENST00000342788 1065V synonymous 1163 2215 0.2625 0.221
2-212285172-C-T ERBB4 ENST00000342788 1043S synonymous 1 2574 1.943E-4 14.38
2-212285243-C-T ERBB4 ENST00000342788 E1020K missense 1 2600 1.923E-4 24.8
2-212285292-G-A ERBB4 ENST00000342788 1003F synonymous 1 2592 1.929E-4 13.72
2-212288890-G-A ERBB4 ENST00000342788 952V synonymous 1 2589 1.931E-4 13.7
2-212288901-C-T ERBB4 ENST00000342788 V949I missense 2 2597 3.851E-4 26.4
2-212289001-G-A ERBB4 ENST00000342788 915T synonymous 28 2614 0.0054 11.86
2-212293178-T-C ERBB4 ENST00000342788 I892V missense 1 2565 1.949E-4 23.4
2-212295801-G-A ERBB4 ENST00000342788 R838* stop gain 1 2610 1.916E-4 44.0
2-212295822-T-G ERBB4 ENST00000342788 M831L missense 1 2609 1.916E-4 23.1
2-212483999-C-A ERBB4 ENST00000342788 G735V missense; splice region 1 2568 1.947E-4 32.0
2-212488647-T-C ERBB4 ENST00000342788 734K synonymous; splice region 2 2634 3.797E-4 14.3
2-212488657-G-A ERBB4 ENST00000342788 T731M missense 1 2635 1.898E-4 31.0
2-212488682-C-T ERBB4 ENST00000342788 V723I missense 1 2636 1.897E-4 22.5
2-212495202-T-C ERBB4 ENST00000342788 688R synonymous 1 2628 1.903E-4 8.802
2-212522497-G-A ERBB4 ENST00000342788 T643I missense 1 2630 1.901E-4 21.6
2-212530051-T-C ERBB4 ENST00000342788 Q623R missense 1 2636 1.897E-4 16.68
2-212530084-C-T ERBB4 ENST00000342788 R612Q missense 1 2636 1.897E-4 23.5
2-212530202-C-T ERBB4 ENST00000342788 G573S missense; splice region 1 2636 1.897E-4 34.0
2-212537896-T-C ERBB4 ENST00000342788 H570R missense 1 2617 1.911E-4 13.24
2-212537906-G-A ERBB4 ENST00000342788 L567F missense 1 2620 1.908E-4 18.74
2-212537936-G-A ERBB4 ENST00000342788 P557S missense 1 2615 1.912E-4 13.67
2-212543783-T-C ERBB4 ENST00000342788 Y539C missense 2 2630 3.802E-4 20.6
2-212543863-A-G ERBB4 ENST00000342788 512C synonymous 1 2629 1.902E-4 9.069
2-212566740-T-C ERBB4 ENST00000342788 I481V missense 1 2637 1.896E-4 9.942
2-212566786-G-T ERBB4 ENST00000342788 N465K missense 2 2636 3.794E-4 17.76
2-212566789-G-C ERBB4 ENST00000342788 S464R missense 1 2637 1.896E-4 12.72
2-212566810-G-A ERBB4 ENST00000342788 457N synonymous 1 2635 1.898E-4 10.56
2-212566817-G-A ERBB4 ENST00000342788 A455V missense 1 2636 1.897E-4 26.4
2-212566819-G-A ERBB4 ENST00000342788 454S synonymous 1 2635 1.898E-4 13.49
2-212570063-C-T ERBB4 ENST00000342788 R393Q missense 1 2638 1.895E-4 24.5
2-212570071-G-A ERBB4 ENST00000342788 390N synonymous 6 2638 0.0011 12.92
2-212570100-T-C ERBB4 ENST00000342788 I381V missense 1 2637 1.896E-4 21.1
2-212570104-A-G ERBB4 ENST00000342788 379N synonymous 1 2637 1.896E-4 9.24
2-212576777-A-C ERBB4 ENST00000342788 H374Q missense; splice region 15 2574 0.0029 3.788
2-212576875-A-G ERBB4 ENST00000342788 342L synonymous 1 2578 1.939E-4 8.057
2-212576876-T-C ERBB4 ENST00000342788 341S synonymous 1 2579 1.939E-4 8.453
2-212587118-G-A ERBB4 ENST00000342788 H295Y missense; splice region 1 2607 1.918E-4 22.1
2-212587119-T-C ERBB4 ENST00000342788 294P synonymous; splice region 38 2607 0.0073 12.23
2-212587164-G-A ERBB4 ENST00000342788 279F synonymous 2 2614 3.826E-4 11.08
2-212589811-G-A ERBB4 ENST00000342788 T244I missense 1 2609 1.916E-4 29.8
2-212589843-T-C ERBB4 ENST00000342788 233E synonymous 1 2611 1.915E-4 7.97
2-212589894-T-C ERBB4 ENST00000342788 216Q synonymous 4 2603 7.683E-4 5.111
2-212589909-C-T ERBB4 ENST00000342788 211T synonymous 1 2594 1.928E-4 17.45
2-212615425-T-C ERBB4 ENST00000342788 187G synonymous 2 2631 3.801E-4 6.339
2-212652753-C-T ERBB4 ENST00000342788 G185R missense 1 2427 2.06E-4 22.5
2-212652804-G-A ERBB4 ENST00000342788 R168W missense 1 2509 1.993E-4 34.0
2-212989498-G-C ERBB4 ENST00000342788 N71K missense 1 2608 1.917E-4 23.7
2-212989509-T-G ERBB4 ENST00000342788 I68L missense 1 2614 1.913E-4 15.11
2-212989561-G-C ERBB4 ENST00000342788 50R synonymous 1 2616 1.911E-4 7.719
2-212989621-T-C ERBB4 ENST00000342788 30A synonymous 1 2593 1.928E-4 7.983
2-213403189-G-A ERBB4 ENST00000342788 22P synonymous 1 2622 1.907E-4 12.31
2-213403205-G-A ERBB4 ENST00000342788 A17V missense 1 2631 1.9E-4 22.9
2-213403205-G-C ERBB4 ENST00000342788 A17G missense 1 2631 1.9E-4 22.5