Data Browser v2

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


Gene: SETX Variant Count: 148   RVIS Percentile: 42.8816%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
9-135139670-G-A SETX ENST00000224140 2664L synonymous 1 2632 1.9E-4 6.329
9-135139676-T-C SETX ENST00000224140 R2662G missense 1 2631 1.9E-4 5.754
9-135139678-T-C SETX ENST00000224140 K2661R missense 1 2631 1.9E-4 0.001
9-135139688-T-C SETX ENST00000224140 R2658G missense 1 2630 1.901E-4 0.095
9-135139746-G-A SETX ENST00000224140 2638F synonymous 2 2637 3.792E-4 8.992
9-135139755-G-A SETX ENST00000224140 2635A synonymous 1 2638 1.895E-4 9.113
9-135139765-C-A SETX ENST00000224140 R2632M missense 1 2638 1.895E-4 26.1
9-135139770-A-T SETX ENST00000224140 C2630* stop gain 1 2638 1.895E-4 37.0
9-135139826-T-C SETX ENST00000224140 S2612G missense 175 2634 0.0332 0.112
9-135139850-C-T SETX ENST00000224140 V2604M missense 1 2628 1.903E-4 7.009
9-135139869-C-A SETX ENST00000224140 2597L synonymous 1 2621 1.908E-4 11.14
9-135139873-G-C SETX ENST00000224140 A2596G missense 2 2629 3.804E-4 9.83
9-135139898-G-A SETX ENST00000224140 Q2588* stop gain 1 2638 1.895E-4 36.0
9-135139901-T-C SETX ENST00000224140 I2587V missense 1208 2459 0.2456 0.001
9-135139945-G-A SETX ENST00000224140 T2572M missense 1 2638 1.895E-4 8.688
9-135140000-A-T SETX ENST00000224140 F2554I missense 1 2638 1.895E-4 10.88
9-135140020-A-G SETX ENST00000224140 I2547T missense 30 2637 0.0057 0.165
9-135140041-C-A SETX ENST00000224140 R2540L missense 1 2638 1.895E-4 33.0
9-135140089-G-A SETX ENST00000224140 S2524L missense 1 2638 1.895E-4 15.04
9-135140170-C-T SETX ENST00000224140 S2497N missense 2 2638 3.791E-4 15.49
9-135140228-T-C SETX ENST00000224140 T2478A missense 1 2638 1.895E-4 0.007
9-135140229-A-T SETX ENST00000224140 2477P synonymous 1 2638 1.895E-4 1.44
9-135147157-C-T SETX ENST00000224140 R2380Q missense 2 2638 3.791E-4 27.0
9-135147195-T-C SETX ENST00000224140 2367G synonymous; splice region 1 2633 1.899E-4 3.525
9-135150773-T-G SETX ENST00000224140 M2324L missense 1 2595 1.927E-4 19.82
9-135150775-A-G SETX ENST00000224140 V2323A missense 1 2594 1.928E-4 24.1
9-135152522-C-T SETX ENST00000224140 R2287Q missense 1 2581 1.937E-4 34.0
9-135152527-G-T SETX ENST00000224140 2285A synonymous 1 2573 1.943E-4 4.822
9-135153506-A-T SETX ENST00000224140 C2265S missense 1 2598 1.925E-4 24.3
9-135158690-C-T SETX ENST00000224140 2169G synonymous 122 2638 0.0231 17.69
9-135158713-G-A SETX ENST00000224140 2162L synonymous 1 2637 1.896E-4 11.44
9-135158762-G-A SETX ENST00000224140 2145I synonymous 1 2636 1.897E-4 16.45
9-135161855-G-A SETX ENST00000224140 2117S synonymous 1 2572 1.944E-4 13.02
9-135163987-T-C SETX ENST00000224140 N2053S missense 1 2578 1.939E-4 23.2
9-135171261-A-G SETX ENST00000224140 L2035S missense; splice region 1 2616 1.911E-4 29.1
9-135171389-T-C SETX ENST00000224140 1992E synonymous 1 2638 1.895E-4 5.842
9-135172322-T-C SETX ENST00000224140 1967T synonymous 1 2629 1.902E-4 10.47
9-135172412-A-G SETX ENST00000224140 1937D synonymous 753 2556 0.1473 8.057
9-135173581-C-T SETX ENST00000224140 1889K synonymous 1 2603 1.921E-4 17.81
9-135173632-G-A SETX ENST00000224140 1872N synonymous 1 2612 1.914E-4 8.366
9-135173685-T-C SETX ENST00000224140 T1855A missense 718 2511 0.143 0.002
9-135176031-C-T SETX ENST00000224140 R1845H missense 1 2606 1.919E-4 34.0
9-135176075-T-C SETX ENST00000224140 I1830M missense 1 2613 1.914E-4 0.001
9-135187157-G-A SETX ENST00000224140 1787Y synonymous 1 2618 1.91E-4 8.979
9-135187235-T-C SETX ENST00000224140 1761Q synonymous 6 2602 0.0012 0.456
9-135201714-T-C SETX ENST00000224140 1757E synonymous 1 2605 1.919E-4 6.683
9-135201723-A-G SETX ENST00000224140 1754N synonymous 1 2612 1.914E-4 7.936
9-135201746-A-C SETX ENST00000224140 F1747V missense 1 2627 1.903E-4 24.7
9-135201805-T-A SETX ENST00000224140 Q1727L missense 1 2632 1.9E-4 29.5
9-135201827-C-A SETX ENST00000224140 G1720W missense 1 2632 1.9E-4 34.0
9-135201851-T-C SETX ENST00000224140 M1712V missense 1 2626 1.904E-4 25.4
9-135201854-C-T SETX ENST00000224140 E1711K missense 1 2625 1.905E-4 29.1
9-135201881-C-T SETX ENST00000224140 V1702I missense 1 2617 1.911E-4 11.37
9-135201907-G-A SETX ENST00000224140 S1693L missense 1 2614 1.913E-4 20.7
9-135201914-G-T SETX ENST00000224140 L1691I missense 1 2613 1.914E-4 0.884
9-135201934-G-C SETX ENST00000224140 S1684C missense 3 2603 5.763E-4 22.1
9-135202006-T-C SETX ENST00000224140 H1660R missense 1 2613 1.914E-4 0.01
9-135202082-A-T SETX ENST00000224140 L1635M missense 1 2624 1.905E-4 12.44
9-135202120-G-A SETX ENST00000224140 P1622L missense 1 2618 1.91E-4 19.28
9-135202135-G-A SETX ENST00000224140 S1617F missense 1 2609 1.916E-4 8.988
9-135202157-G-A SETX ENST00000224140 L1610F missense 2 2602 3.843E-4 11.4
9-135202168-C-T SETX ENST00000224140 R1606Q missense 1 2603 1.921E-4 34.0
9-135202230-A-C SETX ENST00000224140 1585P synonymous 39 2584 0.0075 0.033
9-135202278-A-G SETX ENST00000224140 1569S synonymous 1 2510 1.992E-4 2.347
9-135202308-T-C SETX ENST00000224140 1559K synonymous 2 2459 4.067E-4 0.019
9-135202325-A-C SETX ENST00000224140 C1554G missense 21 2447 0.0043 21.6
9-135202468-A-G SETX ENST00000224140 M1506T missense 1 2535 1.972E-4 26.6
9-135202504-T-C SETX ENST00000224140 D1494G missense 1 2563 1.951E-4 23.1
9-135202535-C-T SETX ENST00000224140 E1484K missense 1 2596 1.926E-4 12.68
9-135202552-G-A SETX ENST00000224140 A1478V missense 1 2601 1.922E-4 3.784
9-135202552-G-T SETX ENST00000224140 A1478E missense 6 2601 0.0012 3.945
9-135202583-C-G SETX ENST00000224140 G1468R missense 1 2605 1.919E-4 23.4
9-135202712-T-C SETX ENST00000224140 K1425E missense 1 2607 1.918E-4 3.072
9-135202788-T-C SETX ENST00000224140 1399T synonymous 2 2599 3.848E-4 0.369
9-135202794-A-G SETX ENST00000224140 1397N synonymous 1 2600 1.923E-4 0.212
9-135202829-T-C SETX ENST00000224140 I1386V missense 1019 935 0.4551 0.001
9-135202876-C-T SETX ENST00000224140 S1370N missense 1 2613 1.914E-4 1.041
9-135203030-C-T SETX ENST00000224140 V1319I missense 1 2613 1.914E-4 10.56
9-135203156-A-G SETX ENST00000224140 C1277R missense 1 2622 1.907E-4 11.35
9-135203159-G-C SETX ENST00000224140 Q1276E missense 1 2622 1.907E-4 19.81
9-135203176-G-A SETX ENST00000224140 P1270L missense 4 2609 7.666E-4 24.5
9-135203183-T-C SETX ENST00000224140 I1268V missense 1 2609 1.916E-4 0.004
9-135203231-C-T SETX ENST00000224140 G1252R missense 1549 1194 0.3513 17.34
9-135203396-C-T SETX ENST00000224140 D1197N missense 1 2546 1.964E-4 8.641
9-135203409-A-C SETX ENST00000224140 D1192E missense 959 861 0.4431 0.002
9-135203523-T-G SETX ENST00000224140 E1154D missense 1 2520 1.984E-4 21.7
9-135203530-A-C SETX ENST00000224140 F1152C missense 149 2499 0.0298 6.452
9-135203552-G-A SETX ENST00000224140 R1145W missense 1 2435 2.053E-4 23.2
9-135203575-C-T SETX ENST00000224140 G1137D missense 1 2387 2.095E-4 2.419
9-135203632-G-T SETX ENST00000224140 T1118K missense 1 2458 2.034E-4 23.3
9-135203649-A-G SETX ENST00000224140 1112A synonymous 1 2475 2.02E-4 5.704
9-135203688-A-G SETX ENST00000224140 1099D synonymous 1 2528 1.978E-4 0.209
9-135203725-G-A SETX ENST00000224140 S1087F missense 1 2533 1.974E-4 0.005
9-135203756-C-T SETX ENST00000224140 D1077N missense 6 2532 0.0012 24.1
9-135203776-A-G SETX ENST00000224140 L1070P missense 1 2548 1.962E-4 4.428
9-135203838-G-A SETX ENST00000224140 1049H synonymous 395 2565 0.077 3.875
9-135203910-T-TTCA SETX ENST00000224140 E1025DE inframe insertion 7 2558 0.0014 9.268
9-135203910-TTCA-T SETX ENST00000224140 DE1024-1025E inframe deletion 1 2558 1.955E-4 13.88
9-135203956-C-T SETX ENST00000224140 R1010H missense 1 2553 1.958E-4 2.164
9-135204004-T-C SETX ENST00000224140 D994G missense 2 2570 3.891E-4 0.256
9-135204010-T-C SETX ENST00000224140 K992R missense 83 2565 0.0162 3.054
9-135204031-G-A SETX ENST00000224140 S985L missense 1 2549 1.962E-4 12.65
9-135204060-C-G SETX ENST00000224140 975T synonymous 1 2547 1.963E-4 11.34
9-135204098-G-A SETX ENST00000224140 H963Y missense 1 2550 1.961E-4 20.5
9-135204235-A-G SETX ENST00000224140 M917T missense 2 2534 3.946E-4 0.003
9-135204287-T-C SETX ENST00000224140 T900A missense 1 2526 1.979E-4 2.022
9-135204313-A-G SETX ENST00000224140 V891A missense 3 2520 5.952E-4 0.101
9-135204442-A-C SETX ENST00000224140 V848G missense 1 2354 2.124E-4 0.002
9-135204483-T-C SETX ENST00000224140 834G synonymous 1 2173 2.301E-4 0.032
9-135204506-T-C SETX ENST00000224140 K827E missense 2 2046 4.888E-4 18.97
9-135204590-G-A SETX ENST00000224140 H799Y missense 1 2121 2.357E-4 0.906
9-135204647-T-C SETX ENST00000224140 T780A missense 1 2440 2.049E-4 4.694
9-135204769-C-T SETX ENST00000224140 G739E missense 1 2368 2.111E-4 25.2
9-135204884-C-T SETX ENST00000224140 A701T missense 1 2399 2.084E-4 8.355
9-135204950-G-C SETX ENST00000224140 L679V missense 1 2507 1.994E-4 0.009
9-135205006-G-C SETX ENST00000224140 A660G missense 290 2449 0.0592 8.046
9-135205116-T-G SETX ENST00000224140 E623D missense 2 2239 4.466E-4 23.5
9-135205194-G-C SETX ENST00000224140 F597L missense 1 2512 1.99E-4 0.016
9-135205235-G-C SETX ENST00000224140 L584V missense 2 2557 3.911E-4 22.9
9-135205450-G-C SETX ENST00000224140 S512C missense 1 2548 1.962E-4 22.1
9-135205493-T-C SETX ENST00000224140 T498A missense 1 2573 1.943E-4 5.998
9-135205593-T-C SETX ENST00000224140 464S synonymous 1 2444 2.046E-4 5.107
9-135205594-G-A SETX ENST00000224140 S464L missense 1 2446 2.044E-4 29.0
9-135205611-A-C SETX ENST00000224140 F458L missense 1 2399 2.084E-4 24.3
9-135205692-C-T SETX ENST00000224140 431Q synonymous 1 2521 1.983E-4 6.752
9-135205701-G-A SETX ENST00000224140 428Y synonymous 1 2540 1.969E-4 1.305
9-135205758-T-C SETX ENST00000224140 409L synonymous 1 2586 1.933E-4 1.31
9-135206460-A-G SETX ENST00000224140 359Y synonymous 937 883 0.4694 6.365
9-135206503-T-C SETX ENST00000224140 Y345C missense 1 2545 1.965E-4 5.048
9-135206694-T-A SETX ENST00000224140 E327V missense 1 2621 1.908E-4 28.0
9-135206706-C-T SETX ENST00000224140 S323N missense 2 2622 3.814E-4 26.6
9-135210013-T-C SETX ENST00000224140 M274V missense 1 2637 1.896E-4 25.5
9-135210027-G-A SETX ENST00000224140 S269L missense 1 2635 1.898E-4 23.3
9-135211743-T-G SETX ENST00000224140 K220Q missense 1 2633 1.899E-4 27.3
9-135211747-C-G SETX ENST00000224140 K218N missense 3 2632 5.699E-4 27.6
9-135211755-G-A SETX ENST00000224140 216L synonymous 1 2633 1.899E-4 9.554
9-135211830-C-T SETX ENST00000224140 E191K missense 2 2623 3.812E-4 32.0
9-135211861-T-C SETX ENST00000224140 180K synonymous 1 2620 1.908E-4 7.096
9-135211898-C-T SETX ENST00000224140 R168Q missense 1 2595 1.927E-4 34.0
9-135218103-A-C SETX ENST00000224140 L158V missense 30 2623 0.0057 24.3
9-135221697-A-G SETX ENST00000224140 113P synonymous 1 2609 1.916E-4 6.965
9-135221795-T-C SETX ENST00000224140 I81V missense 1 2596 1.926E-4 12.3
9-135221844-T-C SETX ENST00000224140 64L synonymous 5 2516 9.936E-4 0.599
9-135224714-G-A SETX ENST00000224140 34D synonymous 1 2638 1.895E-4 1.47
9-135224757-C-T SETX ENST00000224140 R20H missense 46 2637 0.0087 2.044
9-135224773-T-C SETX ENST00000224140 I15V missense 1 2638 1.895E-4 0.001
9-135224775-G-A SETX ENST00000224140 T14I missense 1 2638 1.895E-4 24.8
9-135224812-T-C SETX ENST00000224140 S2G missense 1 2637 1.896E-4 26.0