Data Browser v2

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


Gene: LMNB1 Variant Count: 24   RVIS Percentile: 26.5334%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
5-126113260-G-A LMNB1 ENST00000261366 20T synonymous 1 1003 4.985E-4 11.01
5-126113317-C-CAA LMNB1 ENST00000261366 39-40 frameshift 1 1646 3.038E-4 32.0
5-126113354-A-G LMNB1 ENST00000261366 S52G missense 1 1769 2.826E-4 20.4
5-126113482-C-T LMNB1 ENST00000261366 94D synonymous 1 1837 2.722E-4 21.6
5-126140522-T-C LMNB1 ENST00000261366 138Y synonymous 327 2623 0.0623 5.885
5-126140540-G-A LMNB1 ENST00000261366 144S synonymous 107 2627 0.0204 14.38
5-126141328-G-C LMNB1 ENST00000261366 L194F missense 1 2554 1.958E-4 23.5
5-126145905-C-T LMNB1 ENST00000261366 R226C missense 1 2637 1.896E-4 34.0
5-126146037-G-T LMNB1 ENST00000261366 A270S missense 2 2626 3.808E-4 20.1
5-126147503-T-C LMNB1 ENST00000261366 284S synonymous 21 2596 0.004 10.21
5-126147518-C-T LMNB1 ENST00000261366 289A synonymous 1 2602 1.922E-4 18.91
5-126147530-G-C LMNB1 ENST00000261366 293L synonymous 1 2603 1.921E-4 12.09
5-126154684-G-A LMNB1 ENST00000261366 R337H missense 1 2554 1.958E-4 24.9
5-126154697-CAAAG-C LMNB1 ENST00000261366 342-343 frameshift 1 2552 1.959E-4 35.0
5-126154805-C-T LMNB1 ENST00000261366 377Y synonymous 1 2378 2.103E-4 9.473
5-126156702-G-A LMNB1 ENST00000261366 V421M missense 1 2605 1.919E-4 23.8
5-126156721-G-A LMNB1 ENST00000261366 S427N missense 1 2587 1.933E-4 24.2
5-126156748-C-T LMNB1 ENST00000261366 A436V missense 1 2537 1.971E-4 34.0
5-126158473-G-T LMNB1 ENST00000261366 D463Y missense; splice region 1 2597 1.925E-4 31.0
5-126158540-C-T LMNB1 ENST00000261366 T485I missense 1 2580 1.938E-4 23.7
5-126161690-C-T LMNB1 ENST00000261366 A501V missense 123 2559 0.024 27.5
5-126161748-G-A LMNB1 ENST00000261366 520S synonymous 3 2625 5.714E-4 10.53
5-126161770-A-G LMNB1 ENST00000261366 K528E missense 1 2621 1.908E-4 22.8
5-126168433-A-AGAG LMNB1 ENST00000261366 -553-554E inframe insertion 1 2594 1.928E-4 16.41