Data Browser v2

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


Gene: NEFH Variant Count: 71   RVIS Percentile: 69.5683%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
22-29876272-G-A NEFH ENST00000310624 7A synonymous 3 182 0.0082 16.53
22-29876522-G-C NEFH ENST00000310624 V91L missense 1 415 0.0012 0.505
22-29876538-G-T NEFH ENST00000310624 S96I missense 1 452 0.0011 19.01
22-29876548-G-A NEFH ENST00000310624 99E synonymous 2 469 0.0021 5.301
22-29876938-C-T NEFH ENST00000310624 229Y synonymous 1 174 0.0029 6.077
22-29876996-G-A NEFH ENST00000310624 G249S missense 1 175 0.0029 0.713
22-29877033-A-G NEFH ENST00000310624 D261G missense 1 182 0.0027 14.35
22-29879414-C-T NEFH ENST00000310624 R312C missense 1 2606 1.919E-4 27.3
22-29879490-G-T NEFH ENST00000310624 S337I missense 1 2631 1.9E-4 24.8
22-29879516-C-T NEFH ENST00000310624 R346C missense 1 2621 1.908E-4 27.8
22-29879518-C-G NEFH ENST00000310624 346R synonymous 1 2621 1.908E-4 12.3
22-29879527-G-T NEFH ENST00000310624 349L synonymous 1 2618 1.91E-4 5.422
22-29879534-C-A NEFH ENST00000310624 R352S missense 13 2613 0.0025 25.5
22-29879534-C-T NEFH ENST00000310624 R352C missense 1 2613 1.914E-4 26.1
22-29879535-G-A NEFH ENST00000310624 R352H missense 1 2612 1.914E-4 26.7
22-29879545-C-T NEFH ENST00000310624 355A synonymous 1 2599 1.924E-4 18.99
22-29879546-G-A NEFH ENST00000310624 D356N missense 1 2597 1.925E-4 24.6
22-29879559-A-G NEFH ENST00000310624 Y360C missense 2 2562 3.903E-4 24.3
22-29881797-A-C NEFH ENST00000310624 N390T missense 3 2636 5.69E-4 24.2
22-29881828-C-T NEFH ENST00000310624 400A synonymous 693 2598 0.1334 18.37
22-29884942-T-G NEFH ENST00000310624 V438G missense 1 2637 1.896E-4 24.1
22-29885016-G-A NEFH ENST00000310624 E463K missense 461 2602 0.0886 24.0
22-29885075-G-A NEFH ENST00000310624 482E synonymous 2 2558 3.909E-4 10.02
22-29885092-G-T NEFH ENST00000310624 G488V missense 1 2537 1.971E-4 0.004
22-29885094-G-A NEFH ENST00000310624 G489S missense 1 2534 1.973E-4 6.779
22-29885095-G-C NEFH ENST00000310624 G489A missense 1 2533 1.974E-4 0.002
22-29885143-C-T NEFH ENST00000310624 P505L missense 1 2487 2.01E-4 16.0
22-29885199-G-A NEFH ENST00000310624 A524T missense 1 2556 1.956E-4 16.06
22-29885204-G-C NEFH ENST00000310624 K525N missense 3 2559 5.862E-4 18.43
22-29885246-A-G NEFH ENST00000310624 539K synonymous 1 2539 1.969E-4 2.954
22-29885278-C-G NEFH ENST00000310624 A550G missense 1 2581 1.937E-4 22.7
22-29885313-C-G NEFH ENST00000310624 P562A missense 1 2595 1.927E-4 0.002
22-29885352-C-T NEFH ENST00000310624 P575S missense 2 2626 3.808E-4 19.38
22-29885369-C-T NEFH ENST00000310624 580S synonymous 66 2627 0.0126 6.063
22-29885372-C-T NEFH ENST00000310624 581P synonymous 1 2605 1.919E-4 6.775
22-29885412-C-T NEFH ENST00000310624 P595S missense 2 2631 3.801E-4 13.58
22-29885420-G-A NEFH ENST00000310624 597E synonymous 1 2633 1.899E-4 0.009
22-29885429-T-C NEFH ENST00000310624 600S synonymous 1 2549 1.962E-4 0.002
22-29885473-C-T NEFH ENST00000310624 P615L missense 958 2435 0.1967 23.6
22-29885562-G-A NEFH ENST00000310624 E645K missense 11 1904 0.0029 18.44
22-29885564-A-G NEFH ENST00000310624 645E synonymous 43 1619 0.0133 0.004
22-29885567-A-C NEFH ENST00000310624 646A synonymous 170 1296 0.0656 0.002
22-29885594-A-T NEFH ENST00000310624 655P synonymous 15 608 0.0123 0.001
22-29885598-AAGGAAG-A NEFH ENST00000310624 KEE657-659K inframe deletion 15 2621 0.0029 0.725
22-29885618-T-A NEFH ENST00000310624 663P synonymous 7 2168 0.0016 0.007
22-29885644-C-A NEFH ENST00000310624 A672E missense 1 2492 2.006E-4 0.001
22-29885711-C-T NEFH ENST00000310624 694A synonymous 1 2635 1.898E-4 3.673
22-29885770-A-C NEFH ENST00000310624 E714A missense 2 2636 3.794E-4 10.32
22-29885786-T-C NEFH ENST00000310624 719P synonymous 1 2635 1.898E-4 0.001
22-29885805-G-C NEFH ENST00000310624 V726L missense 2 2635 3.795E-4 10.86
22-29885858-AGCTAAGTCCCCAGAGAAG-A NEFH ENST00000310624 AKSPEK744-749- inframe deletion 8 2633 0.0015 11.24
22-29885861-T-C NEFH ENST00000310624 744A synonymous 1572 1380 0.4304 0.002
22-29885939-G-A NEFH ENST00000310624 770A synonymous 1 2628 1.903E-4 4.863
22-29885974-C-T NEFH ENST00000310624 P782L missense 1 2623 1.906E-4 24.5
22-29885996-CAAG-C NEFH ENST00000310624 K790- inframe deletion 6 2622 0.0011 11.16
22-29886043-A-C NEFH ENST00000310624 E805A missense 701 2594 0.1351 23.0
22-29886069-A-G NEFH ENST00000310624 I814V missense 1 2626 1.904E-4 0.004
22-29886140-G-A NEFH ENST00000310624 837E synonymous 1 2573 1.943E-4 0.353
22-29886237-C-T NEFH ENST00000310624 P870S missense 1 2437 2.052E-4 8.554
22-29886250-TGGA-T NEFH ENST00000310624 VE874-875V inframe deletion 1 2402 2.082E-4 7.085
22-29886275-C-T NEFH ENST00000310624 882V synonymous 1 2289 2.184E-4 11.89
22-29886291-T-A NEFH ENST00000310624 S888T missense 1 2291 2.182E-4 10.56
22-29886292-C-A NEFH ENST00000310624 S888Y missense 1 2285 2.188E-4 22.6
22-29886293-C-G NEFH ENST00000310624 888S synonymous 1 2286 2.187E-4 3.36
22-29886298-T-A NEFH ENST00000310624 V890D missense 1 2271 2.202E-4 0.059
22-29886386-C-T NEFH ENST00000310624 919D synonymous 28 2520 0.0056 8.638
22-29886411-G-T NEFH ENST00000310624 V928L missense 1 2572 1.944E-4 12.43
22-29886413-A-G NEFH ENST00000310624 928V synonymous 1169 1172 0.4987 0.165
22-29886485-G-A NEFH ENST00000310624 952P synonymous 1 2595 1.927E-4 0.031
22-29886611-T-TG NEFH ENST00000310624 994-995 frameshift 1 2548 1.962E-4 -
22-29886617-A-G NEFH ENST00000310624 996K synonymous 1 2554 1.958E-4 0.895