Data Browser v2

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


Gene: DCTN1 Variant Count: 66   RVIS Percentile: 10.5803%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
2-74588653-G-T DCTN1 ENST00000361874 H1270Q missense 1 2604 1.92E-4 10.89
2-74588705-G-A DCTN1 ENST00000361874 A1253V missense 1 2616 1.911E-4 22.6
2-74588717-G-A DCTN1 ENST00000361874 T1249I missense 22 2612 0.0042 21.1
2-74589788-C-T DCTN1 ENST00000361874 E1200K missense 1 2581 1.937E-4 24.6
2-74589792-G-A DCTN1 ENST00000361874 1198T synonymous 1 2590 1.931E-4 17.65
2-74589828-C-T DCTN1 ENST00000361874 M1186I missense 2 2598 3.849E-4 14.2
2-74589830-T-C DCTN1 ENST00000361874 M1186V missense 1 2598 1.925E-4 7.154
2-74590149-G-A DCTN1 ENST00000361874 1167H synonymous 2 2505 3.992E-4 5.33
2-74590538-C-T DCTN1 ENST00000361874 1076Q synonymous 1 2547 1.963E-4 13.87
2-74590555-CT-C DCTN1 ENST00000361874 - split acceptor 1 2558 1.955E-4 -
2-74592226-T-A DCTN1 ENST00000361874 T1058S missense 1 2638 1.895E-4 12.59
2-74592252-C-T DCTN1 ENST00000361874 R1049Q missense 14 2638 0.0027 26.3
2-74592717-T-C DCTN1 ENST00000361874 K985R missense 1 2602 1.922E-4 18.61
2-74592719-G-C DCTN1 ENST00000361874 984A synonymous 1 2595 1.927E-4 9.974
2-74592733-ACTT-A DCTN1 ENST00000361874 K979- inframe deletion 1 2580 1.938E-4 -
2-74593070-C-T DCTN1 ENST00000361874 E946K missense 1 2638 1.895E-4 35.0
2-74593083-C-T DCTN1 ENST00000361874 941L synonymous 1 2638 1.895E-4 14.4
2-74593101-G-C DCTN1 ENST00000361874 I935M missense 1 2638 1.895E-4 14.28
2-74593484-T-A DCTN1 ENST00000361874 S883C missense 1 2636 1.897E-4 15.77
2-74593498-T-C DCTN1 ENST00000361874 Y878C missense 1 2635 1.898E-4 25.4
2-74593737-G-A DCTN1 ENST00000361874 T826M missense 3 2627 5.71E-4 24.2
2-74593928-T-C DCTN1 ENST00000361874 816A synonymous 29 2638 0.0055 0.511
2-74593944-G-C DCTN1 ENST00000361874 P811R missense 3 2638 5.686E-4 23.3
2-74593993-G-A DCTN1 ENST00000361874 R795C missense 1 2634 1.898E-4 33.0
2-74594019-T-C DCTN1 ENST00000361874 D786G missense 1 2627 1.903E-4 26.0
2-74594023-G-A DCTN1 ENST00000361874 R785W missense 1 2626 1.904E-4 33.0
2-74594044-T-C DCTN1 ENST00000361874 T778A missense 1 2617 1.911E-4 8.519
2-74594210-T-C DCTN1 ENST00000361874 M760V missense 1 2617 1.911E-4 20.3
2-74594220-A-G DCTN1 ENST00000361874 756A synonymous 1 2610 1.916E-4 0.069
2-74594229-C-G DCTN1 ENST00000361874 753T synonymous 1 2618 1.91E-4 7.853
2-74594230-G-A DCTN1 ENST00000361874 T753M missense 1 2614 1.913E-4 23.8
2-74594523-C-T DCTN1 ENST00000361874 E737K missense 1 2621 1.908E-4 25.7
2-74594527-A-C DCTN1 ENST00000361874 735L synonymous 1 2624 1.905E-4 0.092
2-74594919-C-T DCTN1 ENST00000361874 696E synonymous 1 2636 1.897E-4 4.401
2-74594988-G-A DCTN1 ENST00000361874 673A synonymous 1 2521 1.983E-4 8.499
2-74595107-C-T DCTN1 ENST00000361874 R669H missense 1 2536 1.972E-4 26.3
2-74595111-G-A DCTN1 ENST00000361874 H668Y missense 1 2555 1.957E-4 26.5
2-74595116-G-A DCTN1 ENST00000361874 T666M missense 2 2558 3.909E-4 24.9
2-74595187-C-T DCTN1 ENST00000361874 642L synonymous 1 2585 1.934E-4 11.53
2-74595907-C-G DCTN1 ENST00000361874 G601A missense 1 2638 1.895E-4 27.7
2-74596321-T-C DCTN1 ENST00000361874 535T synonymous 5 2636 9.484E-4 2.76
2-74596506-C-T DCTN1 ENST00000361874 R502H missense 2 2565 3.899E-4 23.3
2-74596527-C-T DCTN1 ENST00000361874 R495Q missense 110 2522 0.0218 22.6
2-74596541-G-A DCTN1 ENST00000361874 490D synonymous 1 2511 1.991E-4 8.381
2-74596557-A-G DCTN1 ENST00000361874 L485P missense 1 2463 2.03E-4 28.5
2-74597384-T-C DCTN1 ENST00000361874 R406G missense 1 2561 1.952E-4 22.3
2-74597435-C-T DCTN1 ENST00000361874 V389M missense 1 2581 1.937E-4 18.69
2-74597797-G-C DCTN1 ENST00000361874 D333E missense 1 2632 1.9E-4 0.002
2-74597937-G-T DCTN1 ENST00000361874 L287M missense 5 2077 0.0012 10.5
2-74597944-C-T DCTN1 ENST00000361874 284K synonymous 1 2033 2.459E-4 11.96
2-74598112-C-T DCTN1 ENST00000361874 279A synonymous 4 2586 7.734E-4 14.7
2-74598247-C-A DCTN1 ENST00000361874 234L synonymous 1 2638 1.895E-4 9.39
2-74598254-T-C DCTN1 ENST00000361874 E232G missense 1 2638 1.895E-4 26.1
2-74598279-C-G DCTN1 ENST00000361874 V224L missense 1 2638 1.895E-4 22.2
2-74598677-G-A DCTN1 ENST00000361874 P211L missense 2 2453 4.077E-4 17.57
2-74598683-G-A DCTN1 ENST00000361874 P209L missense 1 2466 2.028E-4 22.8
2-74598723-T-C DCTN1 ENST00000361874 I196V missense 34 2530 0.0067 5.557
2-74598751-C-T DCTN1 ENST00000361874 186P synonymous 2 2547 3.926E-4 16.09
2-74598840-T-G DCTN1 ENST00000361874 S157R missense 1 2323 2.152E-4 15.05
2-74600062-C-T DCTN1 ENST00000361874 R149Q missense 1 2635 1.898E-4 22.7
2-74604801-G-C DCTN1 ENST00000361874 S111C missense 1 2636 1.897E-4 25.5
2-74605146-A-G DCTN1 ENST00000361874 I87T missense 1 2635 1.898E-4 26.6
2-74605178-C-T DCTN1 ENST00000361874 76R synonymous 1 2638 1.895E-4 13.78
2-74605241-G-A DCTN1 ENST00000361874 55G synonymous 1 2637 1.896E-4 7.173
2-74605306-C-G DCTN1 ENST00000361874 E34Q missense 1 2596 1.926E-4 23.1
2-74605346-C-T DCTN1 ENST00000361874 20A synonymous 1 2423 2.064E-4 16.91