22 | g.42066730C>A | CA127850 | NAGA | c.577G>T (p.Glu193Ter)
| ClinVar dbSNP |
22 | g.42066730C= | CA2406550405 | NAGA | c.577G= (p.Glu193=)
| |
22 | g.42066730C>G | CA324656135 | NAGA | c.577G>C (p.Glu193Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066730C>T | CA411768464 | NAGA | c.577G>A (p.Glu193Lys)
| |
22 | g.42066731A= | CA2406550406 | NAGA | c.576T= (p.Tyr192=)
| |
22 | g.42066731A>C | CA411768465 | NAGA | c.576T>G (p.Tyr192Ter)
| gnomAD v4 |
22 | g.42066731A>G | CA514677708 | NAGA | c.576T>C (p.Tyr192=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066731A>T | CA411768466 | NAGA | c.576T>A (p.Tyr192Ter)
| |
22 | g.42066732T>A | CA411768468 | NAGA | c.575A>T (p.Tyr192Phe)
| |
22 | g.42066732T>C | CA10263771 | NAGA | c.575A>G (p.Tyr192Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066732T>G | CA411768467 | NAGA | c.575A>C (p.Tyr192Ser)
| |
22 | g.42066732T= | CA2406550407 | NAGA | c.575A= (p.Tyr192=)
| |
22 | g.42066733A= | CA2406550408 | NAGA | c.574T= (p.Tyr192=)
| |
22 | g.42066733A>C | CA411768469 | NAGA | c.574T>G (p.Tyr192Asp)
| |
22 | g.42066733A>G | CA411768470 | NAGA | c.574T>C (p.Tyr192His)
| gnomAD v4 |
22 | g.42066733A>T | CA411768471 | NAGA | c.574T>A (p.Tyr192Asn)
| dbSNP |
22 | g.42066734G>A | CA514677715 | NAGA | c.573C>T (p.Ala191=)
| ClinVar dbSNP |
22 | g.42066734G>C | CA514677714 | NAGA | c.573C>G (p.Ala191=)
| |
22 | g.42066734G>T | CA514677713 | NAGA | c.573C>A (p.Ala191=)
| gnomAD v4 |
22 | g.42066735G>A | CA411768472 | NAGA | c.572C>T (p.Ala191Val)
| gnomAD v4 |
22 | g.42066735G>C | CA411768473 | NAGA | c.572C>G (p.Ala191Gly)
| gnomAD v4 |
22 | g.42066735G= | CA2406550409 | NAGA | c.572C= (p.Ala191=)
| |
22 | g.42066735G>T | CA10263772 | NAGA | c.572C>A (p.Ala191Asp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066736C>A | CA411768474 | NAGA | c.571G>T (p.Ala191Ser)
| gnomAD v4 |
22 | g.42066736C>G | CA411768475 | NAGA | c.571G>C (p.Ala191Pro)
| |
22 | g.42066736C>T | CA411768476 | NAGA | c.571G>A (p.Ala191Thr)
| |
22 | g.42066737T>A | CA514677719 | NAGA | c.570A>T (p.Pro190=)
| gnomAD v4 |
22 | g.42066737T>C | CA324656146 | NAGA | c.570A>G (p.Pro190=)
| dbSNP |
22 | g.42066737T>G | CA514677718 | NAGA | c.570A>C (p.Pro190=)
| |
22 | g.42066737T= | CA2406550410 | NAGA | c.570A= (p.Pro190=)
| |
22 | g.42066738G>A | CA411768477 | NAGA | c.569C>T (p.Pro190Leu)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066738G>C | CA411768478 | NAGA | c.569C>G (p.Pro190Arg)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066738G= | CA2406550411 | NAGA | c.569C= (p.Pro190=)
| |
22 | g.42066738G>T | CA411768479 | NAGA | c.569C>A (p.Pro190Gln)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066739G>A | CA411768481 | NAGA | c.568C>T (p.Pro190Ser)
| gnomAD v4 |
22 | g.42066739G>C | CA411768482 | NAGA | c.568C>G (p.Pro190Ala)
| |
22 | g.42066739G>T | CA411768480 | NAGA | c.568C>A (p.Pro190Thr)
| |
22 | g.42066740C>A | CA411768483 | NAGA | c.567G>T (p.Trp189Cys)
| gnomAD v4 COSMIC |
22 | g.42066740C= | CA2406550412 | NAGA | c.567G= (p.Trp189=)
| |
22 | g.42066740C>G | CA411768484 | NAGA | c.567G>C (p.Trp189Cys)
| |
22 | g.42066740C>T | CA324656158 | NAGA | c.567G>A (p.Trp189Ter)
| dbSNP gnomAD v4 |
22 | g.42066741C>A | CA411768485 | NAGA | c.566G>T (p.Trp189Leu)
| gnomAD v4 |
22 | g.42066741C>G | CA411768486 | NAGA | c.566G>C (p.Trp189Ser)
| |
22 | g.42066741C>T | CA411768487 | NAGA | c.566G>A (p.Trp189Ter)
| |
22 | g.42066742A>C | CA411768490 | NAGA | c.565T>G (p.Trp189Gly)
| |
22 | g.42066742A>G | CA411768488 | NAGA | c.565T>C (p.Trp189Arg)
| gnomAD v4 |
22 | g.42066742A>T | CA411768489 | NAGA | c.565T>A (p.Trp189Arg)
| |
22 | g.42066743G>A | CA514677721 | NAGA | c.564C>T (p.Ser188=)
| gnomAD v4 |
22 | g.42066743G>C | CA411768491 | NAGA | c.564C>G (p.Ser188Arg)
| |
22 | g.42066743G>T | CA411768492 | NAGA | c.564C>A (p.Ser188Arg)
| gnomAD v4 |
22 | g.42066744C>A | CA411768493 | NAGA | c.563G>T (p.Ser188Ile)
| gnomAD v4 |
22 | g.42066744C= | CA2406550413 | NAGA | c.563G= (p.Ser188=)
| |
22 | g.42066744C>G | CA411768494 | NAGA | c.563G>C (p.Ser188Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066744C>T | CA411768495 | NAGA | c.563G>A (p.Ser188Asn)
| gnomAD v4 |
22 | g.42066745T>A | CA411768496 | NAGA | c.562A>T (p.Ser188Cys)
| |
22 | g.42066745T>C | CA411768498 | NAGA | c.562A>G (p.Ser188Gly)
| |
22 | g.42066745T>G | CA411768497 | NAGA | c.562A>C (p.Ser188Arg)
| |
22 | g.42066746G>A | CA514677722 | NAGA | c.561C>T (p.Cys187=)
| gnomAD v4 |
22 | g.42066746G>C | CA411768499 | NAGA | c.561C>G (p.Cys187Trp)
| |
22 | g.42066746G>T | CA411768500 | NAGA | c.561C>A (p.Cys187Ter)
| gnomAD v4 |
22 | g.42066747C>A | CA411768501 | NAGA | c.560G>T (p.Cys187Phe)
| |
22 | g.42066747C>G | CA411768502 | NAGA | c.560G>C (p.Cys187Ser)
| |
22 | g.42066747C>T | CA411768503 | NAGA | c.560G>A (p.Cys187Tyr)
| gnomAD v4 |
22 | g.42066748A>C | CA411768504 | NAGA | c.559T>G (p.Cys187Gly)
| |
22 | g.42066748A>G | CA411768505 | NAGA | c.559T>C (p.Cys187Arg)
| |
22 | g.42066748A>T | CA411768506 | NAGA | c.559T>A (p.Cys187Ser)
| |
22 | g.42066750_42066752del | CA2657022013 | NAGA | c.557_559del (p.Ser186del)
| gnomAD v4 |
22 | g.42066749G>A | CA514677727 | NAGA | c.558C>T (p.Ser186=)
| |
22 | g.42066749G>C | CA514677726 | NAGA | c.558C>G (p.Ser186=)
| |
22 | g.42066749G>T | CA514677725 | NAGA | c.558C>A (p.Ser186=)
| |
22 | g.42066750G>A | CA411768507 | NAGA | c.557C>T (p.Ser186Phe)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066750G>C | CA411768508 | NAGA | c.557C>G (p.Ser186Cys)
| |
22 | g.42066750G= | CA2406550414 | NAGA | c.557C= (p.Ser186=)
| |
22 | g.42066750G>T | CA411768509 | NAGA | c.557C>A (p.Ser186Tyr)
| gnomAD v4 |
22 | g.42066751A>C | CA411768510 | NAGA | c.556T>G (p.Ser186Ala)
| |
22 | g.42066751A>G | CA411768512 | NAGA | c.556T>C (p.Ser186Pro)
| |
22 | g.42066751A>T | CA411768511 | NAGA | c.556T>A (p.Ser186Thr)
| |
22 | g.42066752G>A | CA514677728 | NAGA | c.555C>T (p.Phe185=)
| |
22 | g.42066752G>C | CA411768513 | NAGA | c.555C>G (p.Phe185Leu)
| |
22 | g.42066752G>T | CA411768514 | NAGA | c.555C>A (p.Phe185Leu)
| |
22 | g.42066753A= | CA2406550415 | NAGA | c.554T= (p.Phe185=)
| |
22 | g.42066753A>C | CA411768515 | NAGA | c.554T>G (p.Phe185Cys)
| |
22 | g.42066753A>G | CA411768517 | NAGA | c.554T>C (p.Phe185Ser)
| |
22 | g.42066753A>T | CA411768516 | NAGA | c.554T>A (p.Phe185Tyr)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066754A>C | CA411768518 | NAGA | c.553T>G (p.Phe185Val)
| |
22 | g.42066754A>G | CA411768520 | NAGA | c.553T>C (p.Phe185Leu)
| |
22 | g.42066754A>T | CA411768519 | NAGA | c.553T>A (p.Phe185Ile)
| gnomAD v4 |
22 | g.42066754_42066761dup | CA2657022014 | NAGA | c.546_553dup (p.Phe185SerfsTer19)
| gnomAD v4 |
22 | g.42066755G>A | CA10263773 | NAGA | c.552C>T (p.Ala184=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066755G>C | CA514677730 | NAGA | c.552C>G (p.Ala184=)
| |
22 | g.42066755G= | CA2406550416 | NAGA | c.552C= (p.Ala184=)
| |
22 | g.42066755G>T | CA514677729 | NAGA | c.552C>A (p.Ala184=)
| |
22 | g.42066756G>A | CA411768521 | NAGA | c.551C>T (p.Ala184Val)
| |
22 | g.42066756G>C | CA411768522 | NAGA | c.551C>G (p.Ala184Gly)
| |
22 | g.42066756G>T | CA411768523 | NAGA | c.551C>A (p.Ala184Asp)
| |
22 | g.42066757C>A | CA411768524 | NAGA | c.550G>T (p.Ala184Ser)
| |
22 | g.42066757C= | CA2406550417 | NAGA | c.550G= (p.Ala184=)
| |
22 | g.42066757C>G | CA411768525 | NAGA | c.550G>C (p.Ala184Pro)
| |
22 | g.42066757C>T | CA10263774 | NAGA | c.550G>A (p.Ala184Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066758G>A | CA10263775 | NAGA | c.549C>T (p.Ile183=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066758G>C | CA411768526 | NAGA | c.549C>G (p.Ile183Met)
| |
22 | g.42066758G= | CA2406550418 | NAGA | c.549C= (p.Ile183=)
| |
22 | g.42066758G>T | CA514677732 | NAGA | c.549C>A (p.Ile183=)
| gnomAD v4 |
22 | g.42066759A>C | CA411768527 | NAGA | c.548T>G (p.Ile183Ser)
| |
22 | g.42066759A>G | CA411768528 | NAGA | c.548T>C (p.Ile183Thr)
| |
22 | g.42066759A>T | CA411768529 | NAGA | c.548T>A (p.Ile183Asn)
| |
22 | g.42066760T>A | CA411768530 | NAGA | c.547A>T (p.Ile183Phe)
| |
22 | g.42066760T>C | CA411768532 | NAGA | c.547A>G (p.Ile183Val)
| gnomAD v4 |
22 | g.42066760T>G | CA411768531 | NAGA | c.547A>C (p.Ile183Leu)
| |
22 | g.42066761G>A | CA514677736 | NAGA | c.546C>T (p.Pro182=)
| ClinVar dbSNP gnomAD v4 |
22 | g.42066761G>C | CA514677735 | NAGA | c.546C>G (p.Pro182=)
| |
22 | g.42066761G= | CA2406550419 | NAGA | c.546C= (p.Pro182=)
| |
22 | g.42066761G>T | CA514677734 | NAGA | c.546C>A (p.Pro182=)
| |
22 | g.42066763_42066764del | CA2577736764 | NAGA | c.545_546del (p.Pro182HisfsTer11)
| |
22 | g.42066762G>A | CA411768533 | NAGA | c.545C>T (p.Pro182Leu)
| dbSNP gnomAD v2 |
22 | g.42066762G>C | CA411768534 | NAGA | c.545C>G (p.Pro182Arg)
| gnomAD v4 |
22 | g.42066762G= | CA2406550420 | NAGA | c.545C= (p.Pro182=)
| |
22 | g.42066762G>T | CA411768535 | NAGA | c.545C>A (p.Pro182His)
| gnomAD v4 |
22 | g.42066763G>A | CA411768536 | NAGA | c.544C>T (p.Pro182Ser)
| gnomAD v4 |
22 | g.42066763G>C | CA411768537 | NAGA | c.544C>G (p.Pro182Ala)
| |
22 | g.42066763G>T | CA411768538 | NAGA | c.544C>A (p.Pro182Thr)
| gnomAD v4 |
22 | g.42066764G>A | CA514677740 | NAGA | c.543C>T (p.Arg181=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066764G>C | CA514677739 | NAGA | c.543C>G (p.Arg181=)
| |
22 | g.42066764G= | CA2406550421 | NAGA | c.543C= (p.Arg181=)
| |
22 | g.42066764G>T | CA514677738 | NAGA | c.543C>A (p.Arg181=)
| |
22 | g.42066765_42066766del | CA2577736765 | NAGA | c.542_543del (p.Arg181ProfsTer12)
| |
22 | g.42066765C>A | CA411768539 | NAGA | c.542G>T (p.Arg181Leu)
| gnomAD v4 |
22 | g.42066765C= | CA2406550422 | NAGA | c.542G= (p.Arg181=)
| |
22 | g.42066765C>G | CA411768540 | NAGA | c.542G>C (p.Arg181Pro)
| |
22 | g.42066765C>T | CA10263776 | NAGA | c.542G>A (p.Arg181His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42066766G>A | CA10263777 | NAGA | c.541C>T (p.Arg181Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.42066766G>C | CA411768542 | NAGA | c.541C>G (p.Arg181Gly)
| |
22 | g.42066766G= | CA2406550423 | NAGA | c.541C= (p.Arg181=)
| |
22 | g.42066766G>T | CA411768541 | NAGA | c.541C>A (p.Arg181Ser)
| |
22 | g.42066767G>A | CA514677746 | NAGA | c.540C>T (p.Gly180=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066767G>C | CA514677745 | NAGA | c.540C>G (p.Gly180=)
| |
22 | g.42066767G= | CA2406550424 | NAGA | c.540C= (p.Gly180=)
| |
22 | g.42066767G>T | CA514677744 | NAGA | c.540C>A (p.Gly180=)
| |
22 | g.42066768C>A | CA411768543 | NAGA | c.539G>T (p.Gly180Val)
| gnomAD v4 |
22 | g.42066768C= | CA2406550425 | NAGA | c.539G= (p.Gly180=)
| |
22 | g.42066768C>G | CA10263778 | NAGA | c.539G>C (p.Gly180Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066768C>T | CA411768544 | NAGA | c.539G>A (p.Gly180Asp)
| |
22 | g.42066769C>A | CA411768545 | NAGA | c.538G>T (p.Gly180Cys)
| |
22 | g.42066769C= | CA2406550426 | NAGA | c.538G= (p.Gly180=)
| |
22 | g.42066769C>G | CA411768546 | NAGA | c.538G>C (p.Gly180Arg)
| |
22 | g.42066769C>T | CA411768547 | NAGA | c.538G>A (p.Gly180Ser)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066770T>A | CA514677752 | NAGA | c.537A>T (p.Thr179=)
| gnomAD v4 |
22 | g.42066770T>C | CA514677751 | NAGA | c.537A>G (p.Thr179=)
| gnomAD v4 |
22 | g.42066770T>G | CA514677750 | NAGA | c.537A>C (p.Thr179=)
| |
22 | g.42066771G>A | CA411768548 | NAGA | c.536C>T (p.Thr179Ile)
| gnomAD v4 |
22 | g.42066771G>C | CA411768549 | NAGA | c.536C>G (p.Thr179Arg)
| |
22 | g.42066771G>T | CA411768550 | NAGA | c.536C>A (p.Thr179Lys)
| |
22 | g.42066772T>A | CA411768551 | NAGA | c.535A>T (p.Thr179Ser)
| |
22 | g.42066772T>C | CA411768552 | NAGA | c.535A>G (p.Thr179Ala)
| |
22 | g.42066772T>G | CA411768553 | NAGA | c.535A>C (p.Thr179Pro)
| |
22 | g.42066773G>A | CA514677760 | NAGA | c.534C>T (p.Ala178=)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066773G>C | CA514677758 | NAGA | c.534C>G (p.Ala178=)
| |
22 | g.42066773G= | CA2406550427 | NAGA | c.534C= (p.Ala178=)
| |
22 | g.42066773G>T | CA514677757 | NAGA | c.534C>A (p.Ala178=)
| gnomAD v4 |
22 | g.42066774G>A | CA411768555 | NAGA | c.533C>T (p.Ala178Val)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066774G>C | CA411768556 | NAGA | c.533C>G (p.Ala178Gly)
| |
22 | g.42066774G= | CA2406550428 | NAGA | c.533C= (p.Ala178=)
| |
22 | g.42066774G>T | CA411768554 | NAGA | c.533C>A (p.Ala178Asp)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066775C>A | CA411768557 | NAGA | c.532G>T (p.Ala178Ser)
| |
22 | g.42066775C>G | CA411768558 | NAGA | c.532G>C (p.Ala178Pro)
| |
22 | g.42066775C>T | CA411768559 | NAGA | c.532G>A (p.Ala178Thr)
| |
22 | g.42066776A>C | CA411768560 | NAGA | c.531T>G (p.Asn177Lys)
| |
22 | g.42066776A>G | CA514677763 | NAGA | c.531T>C (p.Asn177=)
| |
22 | g.42066776A>T | CA411768561 | NAGA | c.531T>A (p.Asn177Lys)
| |
22 | g.42066777T>A | CA411768564 | NAGA | c.530A>T (p.Asn177Ile)
| |
22 | g.42066777T>C | CA411768562 | NAGA | c.530A>G (p.Asn177Ser)
| |
22 | g.42066777T>G | CA411768563 | NAGA | c.530A>C (p.Asn177Thr)
| |
22 | g.42066778T>A | CA411768565 | NAGA | c.529A>T (p.Asn177Tyr)
| |
22 | g.42066778T>C | CA411768566 | NAGA | c.529A>G (p.Asn177Asp)
| |
22 | g.42066778T>G | CA324656181 | NAGA | c.529A>C (p.Asn177His)
| dbSNP gnomAD v4 |
22 | g.42066778T= | CA2406550429 | NAGA | c.529A= (p.Asn177=)
| |
22 | g.42066779C>A | CA514677767 | NAGA | c.528G>T (p.Leu176=)
| gnomAD v4 |
22 | g.42066779C>G | CA514677766 | NAGA | c.528G>C (p.Leu176=)
| |
22 | g.42066779C>T | CA514677765 | NAGA | c.528G>A (p.Leu176=)
| |
22 | g.42066780A= | CA2406550430 | NAGA | c.527T= (p.Leu176=)
| |
22 | g.42066780A>C | CA411768567 | NAGA | c.527T>G (p.Leu176Arg)
| |
22 | g.42066780A>G | CA10263779 | NAGA | c.527T>C (p.Leu176Pro)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066780A>T | CA411768568 | NAGA | c.527T>A (p.Leu176Gln)
| gnomAD v4 |
22 | g.42066781G>A | CA514677769 | NAGA | c.526C>T (p.Leu176=)
| gnomAD v4 COSMIC |
22 | g.42066781G>C | CA411768569 | NAGA | c.526C>G (p.Leu176Val)
| |
22 | g.42066781G>T | CA411768570 | NAGA | c.526C>A (p.Leu176Met)
| gnomAD v4 |
22 | g.42066783del | CA2577736766 | NAGA | c.526del (p.Leu176Ter)
| gnomAD v4 |
22 | g.42066782G>A | CA514677773 | NAGA | c.525C>T (p.Ala175=)
| |
22 | g.42066782G>C | CA514677772 | NAGA | c.525C>G (p.Ala175=)
| |
22 | g.42066782G>T | CA514677771 | NAGA | c.525C>A (p.Ala175=)
| gnomAD v4 |
22 | g.42066783G>A | CA411768571 | NAGA | c.524C>T (p.Ala175Val)
| dbSNP gnomAD v2 gnomAD v4 |
22 | g.42066783G>C | CA411768573 | NAGA | c.524C>G (p.Ala175Gly)
| |
22 | g.42066783G= | CA2406550431 | NAGA | c.524C= (p.Ala175=)
| |
22 | g.42066783G>T | CA411768572 | NAGA | c.524C>A (p.Ala175Asp)
| |
22 | g.42066784C>A | CA411768574 | NAGA | c.523G>T (p.Ala175Ser)
| gnomAD v4 |
22 | g.42066784C>G | CA411768575 | NAGA | c.523G>C (p.Ala175Pro)
| |
22 | g.42066784C>T | CA411768576 | NAGA | c.523G>A (p.Ala175Thr)
| gnomAD v4 |
22 | g.42066786_42066792del | CA2657022015 | NAGA | c.517_523del (p.Ala173ProfsTer2)
| gnomAD v4 |
22 | g.42066785A>C | CA514677779 | NAGA | c.522T>G (p.Ala174=)
| |
22 | g.42066785A>G | CA514677778 | NAGA | c.522T>C (p.Ala174=)
| |
22 | g.42066785A>T | CA514677776 | NAGA | c.522T>A (p.Ala174=)
| |
22 | g.42066786G>A | CA411768577 | NAGA | c.521C>T (p.Ala174Val)
| gnomAD v4 |
22 | g.42066786G>C | CA411768578 | NAGA | c.521C>G (p.Ala174Gly)
| |
22 | g.42066786G>T | CA411768579 | NAGA | c.521C>A (p.Ala174Asp)
| gnomAD v4 |
22 | g.42066787C>A | CA411768580 | NAGA | c.520G>T (p.Ala174Ser)
| gnomAD v4 |
22 | g.42066787C>G | CA411768581 | NAGA | c.520G>C (p.Ala174Pro)
| |
22 | g.42066787C>T | CA411768582 | NAGA | c.520G>A (p.Ala174Thr)
| |
22 | g.42066788A>C | CA514677782 | NAGA | c.519T>G (p.Ala173=)
| |
22 | g.42066788A>G | CA514677781 | NAGA | c.519T>C (p.Ala173=)
| gnomAD v4 |
22 | g.42066788A>T | CA514677780 | NAGA | c.519T>A (p.Ala173=)
| |
22 | g.42066789G>A | CA411768583 | NAGA | c.518C>T (p.Ala173Val)
| gnomAD v4 |
22 | g.42066789G>C | CA411768584 | NAGA | c.518C>G (p.Ala173Gly)
| |
22 | g.42066789G>T | CA411768585 | NAGA | c.518C>A (p.Ala173Asp)
| gnomAD v4 |
22 | g.42066789_42066790delinsGC | CA2406550432 | NAGA | c.517_518delinsGC (p.Ala173=)
| |
22 | g.42066790C>A | CA411768588 | NAGA | c.517G>T (p.Ala173Ser)
| |
22 | g.42066790C>G | CA411768586 | NAGA | c.517G>C (p.Ala173Pro)
| |
22 | g.42066790C>T | CA411768587 | NAGA | c.517G>A (p.Ala173Thr)
| gnomAD v4 |
22 | g.42066791del | CA324656188 | NAGA | c.517del (p.Ala173LeufsTer4)
| dbSNP |
22 | g.42066791C>A | CA411768589 | NAGA | c.516G>T (p.Met172Ile)
| |
22 | g.42066791C= | CA2406550433 | NAGA | c.516G= (p.Met172=)
| |
22 | g.42066791C>G | CA411768590 | NAGA | c.516G>C (p.Met172Ile)
| |
22 | g.42066791C>T | CA411768591 | NAGA | c.516G>A (p.Met172Ile)
| dbSNP gnomAD v2 |
22 | g.42066792A= | CA2406550434 | NAGA | c.515T= (p.Met172=)
| |
22 | g.42066792A>C | CA411768592 | NAGA | c.515T>G (p.Met172Arg)
| |
22 | g.42066792A>G | CA10263780 | NAGA | c.515T>C (p.Met172Thr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066792A>T | CA411768593 | NAGA | c.515T>A (p.Met172Lys)
| |
22 | g.42066793T>A | CA411768594 | NAGA | c.514A>T (p.Met172Leu)
| |
22 | g.42066793T>C | CA411768595 | NAGA | c.514A>G (p.Met172Val)
| |
22 | g.42066793T>G | CA411768596 | NAGA | c.514A>C (p.Met172Leu)
| |
22 | g.42066794C>A | CA411768597 | NAGA | c.513G>T (p.Lys171Asn)
| gnomAD v4 |
22 | g.42066794C= | CA2406550435 | NAGA | c.513G= (p.Lys171=)
| |
22 | g.42066794C>G | CA411768598 | NAGA | c.513G>C (p.Lys171Asn)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066794C>T | CA514677783 | NAGA | c.513G>A (p.Lys171=)
| |
22 | g.42066795T>A | CA411768601 | NAGA | c.512A>T (p.Lys171Met)
| |
22 | g.42066795T>C | CA411768600 | NAGA | c.512A>G (p.Lys171Arg)
| gnomAD v4 |
22 | g.42066795T>G | CA411768599 | NAGA | c.512A>C (p.Lys171Thr)
| |
22 | g.42066796T>A | CA411768602 | NAGA | c.511A>T (p.Lys171Ter)
| |
22 | g.42066796T>C | CA411768603 | NAGA | c.511A>G (p.Lys171Glu)
| |
22 | g.42066796T>G | CA411768604 | NAGA | c.511A>C (p.Lys171Gln)
| |
22 | g.42066797G>A | CA514677786 | NAGA | c.510C>T (p.Pro170=)
| gnomAD v4 |
22 | g.42066797G>C | CA514677785 | NAGA | c.510C>G (p.Pro170=)
| |
22 | g.42066797G>T | CA514677784 | NAGA | c.510C>A (p.Pro170=)
| gnomAD v4 |
22 | g.42066800del | CA2657022016 | NAGA | c.510del (p.Lys171ArgfsTer6)
| gnomAD v4 |
22 | g.42066798G>A | CA411768605 | NAGA | c.509C>T (p.Pro170Leu)
| gnomAD v4 |
22 | g.42066798G>C | CA411768606 | NAGA | c.509C>G (p.Pro170Arg)
| |
22 | g.42066798G>T | CA411768607 | NAGA | c.509C>A (p.Pro170His)
| |
22 | g.42066799G>A | CA411768610 | NAGA | c.508C>T (p.Pro170Ser)
| |
22 | g.42066799G>C | CA411768608 | NAGA | c.508C>G (p.Pro170Ala)
| |
22 | g.42066799G= | CA2406550436 | NAGA | c.508C= (p.Pro170=)
| |
22 | g.42066799G>T | CA411768609 | NAGA | c.508C>A (p.Pro170Thr)
| dbSNP gnomAD v4 |
22 | g.42066800G>A | CA514677787 | NAGA | c.507C>T (p.Tyr169=)
| ClinVar dbSNP gnomAD v4 |
22 | g.42066800G>C | CA411768611 | NAGA | c.507C>G (p.Tyr169Ter)
| |
22 | g.42066800G= | CA2406550437 | NAGA | c.507C= (p.Tyr169=)
| |
22 | g.42066800G>T | CA411768612 | NAGA | c.507C>A (p.Tyr169Ter)
| gnomAD v4 |
22 | g.42066801T>A | CA411768613 | NAGA | c.506A>T (p.Tyr169Phe)
| |
22 | g.42066801T>C | CA324656194 | NAGA | c.506A>G (p.Tyr169Cys)
| dbSNP gnomAD v4 |
22 | g.42066801T>G | CA411768614 | NAGA | c.506A>C (p.Tyr169Ser)
| |
22 | g.42066801T= | CA2406550438 | NAGA | c.506A= (p.Tyr169=)
| |
22 | g.42066802A= | CA2406550439 | NAGA | c.505T= (p.Tyr169=)
| |
22 | g.42066802A>C | CA411768615 | NAGA | c.505T>G (p.Tyr169Asp)
| |
22 | g.42066802A>G | CA10263781 | NAGA | c.505T>C (p.Tyr169His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.42066802A>T | CA411768616 | NAGA | c.505T>A (p.Tyr169Asn)
| |
22 | g.42066803C>A | CA514677790 | NAGA | c.504G>T (p.Gly168=)
| gnomAD v4 |
22 | g.42066803C= | CA2406550440 | NAGA | c.504G= (p.Gly168=)
| |
22 | g.42066803C>G | CA514677789 | NAGA | c.504G>C (p.Gly168=)
| |
22 | g.42066803C>T | CA514677788 | NAGA | c.504G>A (p.Gly168=)
| ClinVar dbSNP gnomAD v4 |
22 | g.42066804C>A | CA411768617 | NAGA | c.503G>T (p.Gly168Val)
| |
22 | g.42066804C>G | CA411768618 | NAGA | c.503G>C (p.Gly168Ala)
| |
22 | g.42066804C>T | CA411768619 | NAGA | c.503G>A (p.Gly168Glu)
| gnomAD v4 |
22 | g.42066805C>A | CA411768620 | NAGA | c.503-1G>T (n.503-1G>T)
| gnomAD v4 |
22 | g.42066805C>G | CA411768621 | NAGA | c.503-1G>C (n.503-1G>C)
| |
22 | g.42066805C>T | CA411768622 | NAGA | c.503-1G>A (n.503-1G>A)
| |
22 | g.42066806T>A | CA411768623 | NAGA | c.503-2A>T (n.503-2A>T)
| |
22 | g.42066806T>C | CA411768624 | NAGA | c.503-2A>G (n.503-2A>G)
| |
22 | g.42066806T>G | CA411768625 | NAGA | c.503-2A>C (n.503-2A>C)
| |
22 | g.42066808G>A | CA2657022017 | NAGA | c.503-4C>T (n.503-4C>T)
| gnomAD v4 |
22 | g.42066808G>T | CA2657022018 | NAGA | c.503-4C>A (n.503-4C>A)
| gnomAD v4 |
22 | g.42066810G>A | CA2657022019 | NAGA | c.503-6C>T (n.503-6C>T)
| gnomAD v4 |
22 | g.42066810G>C | CA2657022020 | NAGA | c.503-6C>G (n.503-6C>G)
| gnomAD v4 |
22 | g.42066811_42066812insTA | CA2657022021 | NAGA | c.503-7_503-6insAT (n.503-7_503-6insAT)
| gnomAD v4 |
22 | g.42066812A= | CA2406550441 | NAGA | c.503-8T= (n.503-8T=)
| |
22 | g.42066812A>G | CA1025909416 | NAGA | c.503-8T>C (n.503-8T>C)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066814G>T | CA2657022022 | NAGA | c.503-10C>A (n.503-10C>A)
| gnomAD v4 |
22 | g.42066816C>A | CA2657022023 | NAGA | c.503-12G>T (n.503-12G>T)
| gnomAD v4 |
22 | g.42066816C= | CA2406550442 | NAGA | c.503-12G= (n.503-12G=)
| |
22 | g.42066816C>T | CA10263782 | NAGA | c.503-12G>A (n.503-12G>A)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.42066817C>A | CA2577736767 | NAGA | c.503-13G>T (n.503-13G>T)
| gnomAD v4 |
22 | g.42066817C>T | CA2657022024 | NAGA | c.503-13G>A (n.503-13G>A)
| gnomAD v4 |
22 | g.42066819A>G | CA2657022025 | NAGA | c.503-15T>C (n.503-15T>C)
| gnomAD v4 |
22 | g.42066821C>A | CA2657022026 | NAGA | c.503-17G>T (n.503-17G>T)
| gnomAD v4 |
22 | g.42066821C>G | CA658121152 | NAGA | c.503-17G>C (n.503-17G>C)
| gnomAD v4 COSMIC |
22 | g.42066822T>C | CA2657022027 | NAGA | c.503-18A>G (n.503-18A>G)
| gnomAD v4 |
22 | g.42066822T= | CA2406550443 | NAGA | c.503-18A= (n.503-18A=)
| |
22 | g.42066823G>A | CA639474829 | NAGA | c.503-19C>T (n.503-19C>T)
| dbSNP gnomAD v2 |
22 | g.42066823G>C | CA2657022028 | NAGA | c.503-19C>G (n.503-19C>G)
| gnomAD v4 |
22 | g.42066823G= | CA2406550444 | NAGA | c.503-19C= (n.503-19C=)
| |
22 | g.42066823G>T | CA2657022029 | NAGA | c.503-19C>A (n.503-19C>A)
| gnomAD v4 |
22 | g.42066824_42066837dup | CA1025909421 | NAGA | c.503-32_503-19dup (n.503-32_503-19dup)
| dbSNP gnomAD v3 gnomAD v4 |
22 | g.42066825T>G | CA2657022030 | NAGA | c.503-21A>C (n.503-21A>C)
| gnomAD v4 |
22 | g.42066827C>A | CA2657022031 | NAGA | c.503-23G>T (n.503-23G>T)
| gnomAD v4 |
22 | g.42066828A= | CA2406550445 | NAGA | c.503-24T= (n.503-24T=)
| |
22 | g.42066828A>G | CA2406550446 | NAGA | c.503-24T>C (n.503-24T>C)
| dbSNP gnomAD v4 |
22 | g.42066828A>T | CA2657022032 | NAGA | c.503-24T>A (n.503-24T>A)
| gnomAD v4 |
22 | g.42066829G>A | CA2406550448 | NAGA | c.503-25C>T (n.503-25C>T)
| dbSNP gnomAD v4 |
22 | g.42066829G= | CA2406550447 | NAGA | c.503-25C= (n.503-25C=)
| |