Data Browser v2

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


Gene: ALS2 Variant Count: 64   RVIS Percentile: 3.88653%

Variant Gene Transcript AA Change Consequence Allele Count Sample Count MAF CADD Score
2-202566591-G-A ALS2 ENST00000264276 R1653C missense 2 2418 4.136E-4 35.0
2-202569221-C-T ALS2 ENST00000264276 M1598I missense 1 2419 2.067E-4 34.0
2-202569283-T-A ALS2 ENST00000264276 T1578S missense 1 2464 2.029E-4 24.6
2-202571646-T-C ALS2 ENST00000264276 1501E synonymous 1 2462 2.031E-4 5.155
2-202571733-C-T ALS2 ENST00000264276 1472T synonymous 2 2359 4.239E-4 15.45
2-202572706-A-G ALS2 ENST00000264276 F1430S missense 1 2458 2.034E-4 33.0
2-202574666-C-T ALS2 ENST00000264276 1406R synonymous 1 2546 1.964E-4 12.63
2-202575717-T-C ALS2 ENST00000264276 I1373M missense 19 2483 0.0038 23.2
2-202575731-T-C ALS2 ENST00000264276 R1369G missense 1 2485 2.012E-4 24.8
2-202575821-G-A ALS2 ENST00000264276 1339L synonymous 514 438 0.4132 10.37
2-202580438-T-C ALS2 ENST00000264276 I1321V missense 1 2525 1.98E-4 19.45
2-202580514-C-T ALS2 ENST00000264276 1295A synonymous 213 2559 0.0416 17.62
2-202580523-C-T ALS2 ENST00000264276 1292K synonymous 1 2558 1.955E-4 16.97
2-202580536-G-A ALS2 ENST00000264276 P1288L missense 1 2539 1.969E-4 19.95
2-202582822-C-T ALS2 ENST00000264276 D1272N missense 2 2623 3.812E-4 22.9
2-202582895-A-C ALS2 ENST00000264276 1247G synonymous 10 2633 0.0019 3.739
2-202588159-T-TC ALS2 ENST00000264276 1173 frameshift 1 2623 1.906E-4 35.0
2-202588160-C-T ALS2 ENST00000264276 E1173K missense 2 2624 3.811E-4 33.0
2-202589088-G-A ALS2 ENST00000264276 P1148S missense 1 2600 1.923E-4 19.8
2-202589093-G-A ALS2 ENST00000264276 S1146F missense 1 2602 1.922E-4 32.0
2-202590119-G-T ALS2 ENST00000264276 H1103N missense 1 2632 1.9E-4 20.5
2-202591249-C-T ALS2 ENST00000264276 G1069E missense 3 2591 5.789E-4 34.0
2-202591484-G-A ALS2 ENST00000264276 P1029S missense 1 2620 1.908E-4 29.7
2-202591491-C-T ALS2 ENST00000264276 1026Q synonymous 1 2620 1.908E-4 14.78
2-202591523-G-C ALS2 ENST00000264276 P1016A missense 2 2615 3.824E-4 0.001
2-202593239-G-C ALS2 ENST00000264276 A946G missense 1 2553 1.958E-4 29.9
2-202593274-A-G ALS2 ENST00000264276 934N synonymous 1 2580 1.938E-4 6.89
2-202593280-G-A ALS2 ENST00000264276 932S synonymous 413 2563 0.0806 15.03
2-202593775-C-T ALS2 ENST00000264276 904T synonymous; splice region 2 2618 3.82E-4 12.88
2-202593855-G-A ALS2 ENST00000264276 L878F missense 1 2616 1.911E-4 27.8
2-202598051-C-T ALS2 ENST00000264276 R843Q missense 1 2571 1.945E-4 22.6
2-202598079-TCAGTATTTC-T ALS2 ENST00000264276 EIL831-833- inframe deletion 1 2562 1.952E-4 22.9
2-202598100-T-A ALS2 ENST00000264276 T827S missense 2 2547 3.926E-4 9.278
2-202598113-C-T ALS2 ENST00000264276 822V synonymous 1409 1704 0.4134 13.06
2-202598129-T-C ALS2 ENST00000264276 Q817R missense 1 2544 1.965E-4 13.86
2-202606417-G-C ALS2 ENST00000264276 777L synonymous 1 2352 2.126E-4 8.967
2-202606438-G-T ALS2 ENST00000264276 770V synonymous 1 2320 2.155E-4 9.855
2-202606507-G-A ALS2 ENST00000264276 747Y synonymous 16 2463 0.0032 7.609
2-202608981-C-G ALS2 ENST00000264276 E724Q missense; splice region 1 2630 1.901E-4 22.8
2-202609053-T-C ALS2 ENST00000264276 T700A missense 1 2627 1.903E-4 12.67
2-202609062-C-T ALS2 ENST00000264276 E697K missense 1 2627 1.903E-4 35.0
2-202609063-G-A ALS2 ENST00000264276 696H synonymous 1 2628 1.903E-4 9.304
2-202617878-C-T ALS2 ENST00000264276 576A synonymous 3 2569 5.839E-4 15.31
2-202617879-G-A ALS2 ENST00000264276 A576V missense 1 2569 1.946E-4 24.2
2-202617929-T-C ALS2 ENST00000264276 559K synonymous 3 2585 5.803E-4 3.792
2-202617965-C-T ALS2 ENST00000264276 547R synonymous; splice region 5 2573 9.716E-4 13.03
2-202619239-C-T ALS2 ENST00000264276 D543N missense 3 2617 5.732E-4 34.0
2-202619243-G-A ALS2 ENST00000264276 541H synonymous 1 2621 1.908E-4 8.782
2-202619333-G-A ALS2 ENST00000264276 511P synonymous 1 2596 1.926E-4 11.92
2-202622173-T-C ALS2 ENST00000264276 T475A missense 1 2632 1.9E-4 0.012
2-202622248-T-A ALS2 ENST00000264276 R450W missense 1 2631 1.9E-4 28.4
2-202622306-A-G ALS2 ENST00000264276 430C synonymous 1 2597 1.925E-4 1.442
2-202622342-C-T ALS2 ENST00000264276 418L synonymous 1 2568 1.947E-4 11.02
2-202622370-G-C ALS2 ENST00000264276 A409G missense 1 2566 1.949E-4 23.8
2-202622481-G-C ALS2 ENST00000264276 P372R missense; splice region 7 2303 0.0015 13.35
2-202625615-C-T ALS2 ENST00000264276 V368M missense 769 647 0.4057 0.027
2-202625700-G-A ALS2 ENST00000264276 339Y synonymous 1 2635 1.898E-4 6.565
2-202625770-T-C ALS2 ENST00000264276 D316G missense 1 2636 1.897E-4 6.019
2-202625799-A-G ALS2 ENST00000264276 306N synonymous 1 2634 1.898E-4 1.748
2-202625992-A-G ALS2 ENST00000264276 M242T missense 2 2600 3.846E-4 24.9
2-202626141-C-G ALS2 ENST00000264276 192P synonymous 1 2630 1.901E-4 3.364
2-202626242-C-T ALS2 ENST00000264276 E159K missense 2 2618 3.82E-4 22.9
2-202626437-T-C ALS2 ENST00000264276 I94V missense 153 2476 0.0309 0.181
2-202632092-T-C ALS2 ENST00000264276 E12G missense 1 2636 1.897E-4 22.0