| 1 | g.216246814C>A | CA423431676 | USH2A | c.2580G>T (p.Leu860=)
| |
| 1 | g.216246814C= | CA1220619135 | USH2A | c.2580G= (p.Leu860=)
| |
| 1 | g.216246814C>G | CA423431677 | USH2A | c.2580G>C (p.Leu860=)
| |
| 1 | g.216246814C>T | CA423431679 | USH2A | c.2580G>A (p.Leu860=)
| ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246815A>C | CA344864492 | USH2A | c.2579T>G (p.Leu860Arg)
| |
| 1 | g.216246815A>G | CA344864493 | USH2A | c.2579T>C (p.Leu860Pro)
| |
| 1 | g.216246815A>T | CA344864494 | USH2A | c.2579T>A (p.Leu860Gln)
| |
| 1 | g.216246816G>A | CA423431680 | USH2A | c.2578C>T (p.Leu860=)
| |
| 1 | g.216246816G>C | CA344864495 | USH2A | c.2578C>G (p.Leu860Val)
| |
| 1 | g.216246816G>T | CA344864496 | USH2A | c.2578C>A (p.Leu860Met)
| |
| 1 | g.216246817C>A | CA423431685 | USH2A | c.2577G>T (p.Leu859=)
| |
| 1 | g.216246817C= | CA1220619136 | USH2A | c.2577G= (p.Leu859=)
| |
| 1 | g.216246817C>G | CA423431686 | USH2A | c.2577G>C (p.Leu859=)
| |
| 1 | g.216246817C>T | CA423431689 | USH2A | c.2577G>A (p.Leu859=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246818A>C | CA344864497 | USH2A | c.2576T>G (p.Leu859Arg)
| |
| 1 | g.216246818A>G | CA344864499 | USH2A | c.2576T>C (p.Leu859Pro)
| gnomAD v4 |
| 1 | g.216246818A>T | CA344864498 | USH2A | c.2576T>A (p.Leu859Gln)
| |
| 1 | g.216246819G>A | CA423431695 | USH2A | c.2575C>T (p.Leu859=)
| gnomAD v4 |
| 1 | g.216246819G>C | CA344864500 | USH2A | c.2575C>G (p.Leu859Val)
| |
| 1 | g.216246819G>T | CA344864501 | USH2A | c.2575C>A (p.Leu859Met)
| |
| 1 | g.216246820A>C | CA423431697 | USH2A | c.2574T>G (p.Ser858=)
| |
| 1 | g.216246820A>G | CA423431698 | USH2A | c.2574T>C (p.Ser858=)
| |
| 1 | g.216246820A>T | CA423431699 | USH2A | c.2574T>A (p.Ser858=)
| |
| 1 | g.216246821G>A | CA344864502 | USH2A | c.2573C>T (p.Ser858Phe)
| |
| 1 | g.216246821G>C | CA344864503 | USH2A | c.2573C>G (p.Ser858Cys)
| |
| 1 | g.216246821G= | CA1220619137 | USH2A | c.2573C= (p.Ser858=)
| |
| 1 | g.216246821G>T | CA344864504 | USH2A | c.2573C>A (p.Ser858Tyr)
| |
| 1 | g.216246822A>C | CA344864505 | USH2A | c.2572T>G (p.Ser858Ala)
| gnomAD v4 |
| 1 | g.216246822A>G | CA344864506 | USH2A | c.2572T>C (p.Ser858Pro)
| |
| 1 | g.216246822A>T | CA344864507 | USH2A | c.2572T>A (p.Ser858Thr)
| |
| 1 | g.216246823_216246826dup | CA1396208 | USH2A | c.2569_2572dup (p.Ser858TrpfsTer6)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246823G>A | CA423431705 | USH2A | c.2571C>T (p.Gly857=)
| gnomAD v4 |
| 1 | g.216246823G>C | CA423431709 | USH2A | c.2571C>G (p.Gly857=)
| |
| 1 | g.216246823G>T | CA423431712 | USH2A | c.2571C>A (p.Gly857=)
| |
| 1 | g.216246824C>A | CA344864508 | USH2A | c.2570G>T (p.Gly857Val)
| gnomAD v4 COSMIC |
| 1 | g.216246824C>G | CA344864509 | USH2A | c.2570G>C (p.Gly857Ala)
| |
| 1 | g.216246824C>T | CA344864510 | USH2A | c.2570G>A (p.Gly857Asp)
| |
| 1 | g.216246825C>A | CA344864511 | USH2A | c.2569G>T (p.Gly857Cys)
| COSMIC |
| 1 | g.216246825C>G | CA344864513 | USH2A | c.2569G>C (p.Gly857Arg)
| |
| 1 | g.216246825C>T | CA344864512 | USH2A | c.2569G>A (p.Gly857Ser)
| |
| 1 | g.216246825_216246826dup | CA2650512852 | USH2A | c.2568_2569dup (p.Gly857ValfsTer17)
| gnomAD v4 |
| 1 | g.216246826A= | CA1220619139 | USH2A | c.2568T= (p.Asn856=)
| |
| 1 | g.216246826A>C | CA344864514 | USH2A | c.2568T>G (p.Asn856Lys)
| |
| 1 | g.216246826A>G | CA423431720 | USH2A | c.2568T>C (p.Asn856=)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246826A>T | CA344864515 | USH2A | c.2568T>A (p.Asn856Lys)
| |
| 1 | g.216246826_216246827delinsAT | CA1220619138 | USH2A | c.2567_2568delinsAT (p.Asn856=)
| |
| 1 | g.216246827T>A | CA344864516 | USH2A | c.2567A>T (p.Asn856Ile)
| |
| 1 | g.216246827T>C | CA344864517 | USH2A | c.2567A>G (p.Asn856Ser)
| |
| 1 | g.216246827T>G | CA344864518 | USH2A | c.2567A>C (p.Asn856Thr)
| gnomAD v4 |
| 1 | g.216246829del | CA1396209 | USH2A | c.2567del (p.Asn856MetfsTer17)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246828T>A | CA344864519 | USH2A | c.2566A>T (p.Asn856Tyr)
| |
| 1 | g.216246828T>C | CA344864520 | USH2A | c.2566A>G (p.Asn856Asp)
| |
| 1 | g.216246828T>G | CA344864521 | USH2A | c.2566A>C (p.Asn856His)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.216246828T= | CA1220619140 | USH2A | c.2566A= (p.Asn856=)
| |
| 1 | g.216246829T>A | CA423431726 | USH2A | c.2565A>T (p.Ile855=)
| |
| 1 | g.216246829T>C | CA344864522 | USH2A | c.2565A>G (p.Ile855Met)
| |
| 1 | g.216246829T>G | CA423431730 | USH2A | c.2565A>C (p.Ile855=)
| |
| 1 | g.216246830A= | CA1148434609 | USH2A | c.2564T= (p.Ile855=)
| |
| 1 | g.216246830A>C | CA344864524 | USH2A | c.2564T>G (p.Ile855Arg)
| |
| 1 | g.216246830A>G | CA1396210 | USH2A | c.2564T>C (p.Ile855Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246830A>T | CA344864523 | USH2A | c.2564T>A (p.Ile855Lys)
| |
| 1 | g.216246831T>A | CA344864525 | USH2A | c.2563A>T (p.Ile855Leu)
| |
| 1 | g.216246831T>C | CA344864526 | USH2A | c.2563A>G (p.Ile855Val)
| |
| 1 | g.216246831T>G | CA344864527 | USH2A | c.2563A>C (p.Ile855Leu)
| |
| 1 | g.216246831_216246834del | CA2650512853 | USH2A | c.2560_2563del (p.Thr854Ter)
| gnomAD v4 |
| 1 | g.216246832T>A | CA423431736 | USH2A | c.2562A>T (p.Thr854=)
| |
| 1 | g.216246832T>C | CA423431744 | USH2A | c.2562A>G (p.Thr854=)
| |
| 1 | g.216246832T>G | CA423431738 | USH2A | c.2562A>C (p.Thr854=)
| |
| 1 | g.216246833G>A | CA344864528 | USH2A | c.2561C>T (p.Thr854Ile)
| |
| 1 | g.216246833G>C | CA344864529 | USH2A | c.2561C>G (p.Thr854Arg)
| |
| 1 | g.216246833G= | CA1220619141 | USH2A | c.2561C= (p.Thr854=)
| |
| 1 | g.216246833G>T | CA344864530 | USH2A | c.2561C>A (p.Thr854Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246834T>A | CA344864531 | USH2A | c.2560A>T (p.Thr854Ser)
| |
| 1 | g.216246834T>C | CA344864532 | USH2A | c.2560A>G (p.Thr854Ala)
| |
| 1 | g.216246834T>G | CA344864533 | USH2A | c.2560A>C (p.Thr854Pro)
| |
| 1 | g.216246835C>A | CA423431754 | USH2A | c.2559G>T (p.Gly853=)
| |
| 1 | g.216246835C>G | CA423431755 | USH2A | c.2559G>C (p.Gly853=)
| |
| 1 | g.216246835C>T | CA423431756 | USH2A | c.2559G>A (p.Gly853=)
| |
| 1 | g.216246836C>A | CA344864534 | USH2A | c.2558G>T (p.Gly853Val)
| gnomAD v4 |
| 1 | g.216246836C>G | CA344864535 | USH2A | c.2558G>C (p.Gly853Ala)
| |
| 1 | g.216246836C>T | CA344864536 | USH2A | c.2558G>A (p.Gly853Glu)
| |
| 1 | g.216246837C>A | CA344864538 | USH2A | c.2557G>T (p.Gly853Trp)
| |
| 1 | g.216246837C>G | CA344864539 | USH2A | c.2557G>C (p.Gly853Arg)
| |
| 1 | g.216246837C>T | CA344864537 | USH2A | c.2557G>A (p.Gly853Arg)
| |
| 1 | g.216246838A= | CA1220619142 | USH2A | c.2556T= (p.Thr852=)
| |
| 1 | g.216246838A>C | CA423431762 | USH2A | c.2556T>G (p.Thr852=)
| dbSNP gnomAD v2 |
| 1 | g.216246838A>G | CA423431763 | USH2A | c.2556T>C (p.Thr852=)
| |
| 1 | g.216246838A>T | CA423431764 | USH2A | c.2556T>A (p.Thr852=)
| |
| 1 | g.216246839G>A | CA344864540 | USH2A | c.2555C>T (p.Thr852Ile)
| |
| 1 | g.216246839G>C | CA1396211 | USH2A | c.2555C>G (p.Thr852Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246839G= | CA1220619143 | USH2A | c.2555C= (p.Thr852=)
| |
| 1 | g.216246839G>T | CA344864541 | USH2A | c.2555C>A (p.Thr852Asn)
| |
| 1 | g.216246840T>A | CA344864542 | USH2A | c.2554A>T (p.Thr852Ser)
| |
| 1 | g.216246840T>C | CA344864543 | USH2A | c.2554A>G (p.Thr852Ala)
| |
| 1 | g.216246840T>G | CA344864544 | USH2A | c.2554A>C (p.Thr852Pro)
| |
| 1 | g.216246841C>A | CA1396212 | USH2A | c.2553G>T (p.Lys851Asn)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246841C= | CA1220619144 | USH2A | c.2553G= (p.Lys851=)
| |
| 1 | g.216246841C>G | CA344864545 | USH2A | c.2553G>C (p.Lys851Asn)
| |
| 1 | g.216246841C>T | CA423431765 | USH2A | c.2553G>A (p.Lys851=)
| gnomAD v4 |
| 1 | g.216246842T>A | CA344864546 | USH2A | c.2552A>T (p.Lys851Met)
| |
| 1 | g.216246842T>C | CA344864547 | USH2A | c.2552A>G (p.Lys851Arg)
| COSMIC COSMIC COSMIC |
| 1 | g.216246842T>G | CA344864548 | USH2A | c.2552A>C (p.Lys851Thr)
| COSMIC COSMIC COSMIC |
| 1 | g.216246843T>A | CA344864549 | USH2A | c.2551A>T (p.Lys851Ter)
| |
| 1 | g.216246843T>C | CA1396213 | USH2A | c.2551A>G (p.Lys851Glu)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246843T>G | CA344864550 | USH2A | c.2551A>C (p.Lys851Gln)
| |
| 1 | g.216246843T= | CA1148289633 | USH2A | c.2551A= (p.Lys851=)
| |
| 1 | g.216246844A= | CA1220619145 | USH2A | c.2550T= (p.Asp850=)
| |
| 1 | g.216246844A>C | CA344864551 | USH2A | c.2550T>G (p.Asp850Glu)
| |
| 1 | g.216246844A>G | CA1396214 | USH2A | c.2550T>C (p.Asp850=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246844A>T | CA344864552 | USH2A | c.2550T>A (p.Asp850Glu)
| |
| 1 | g.216246845T>A | CA344864553 | USH2A | c.2549A>T (p.Asp850Val)
| dbSNP |
| 1 | g.216246845T>C | CA344864555 | USH2A | c.2549A>G (p.Asp850Gly)
| |
| 1 | g.216246845T>G | CA344864554 | USH2A | c.2549A>C (p.Asp850Ala)
| |
| 1 | g.216246845T= | CA1220619146 | USH2A | c.2549A= (p.Asp850=)
| |
| 1 | g.216246846C>A | CA344864556 | USH2A | c.2548G>T (p.Asp850Tyr)
| |
| 1 | g.216246846C= | CA1220619147 | USH2A | c.2548G= (p.Asp850=)
| |
| 1 | g.216246846C>G | CA344864558 | USH2A | c.2548G>C (p.Asp850His)
| ClinVar dbSNP |
| 1 | g.216246846C>T | CA344864557 | USH2A | c.2548G>A (p.Asp850Asn)
| dbSNP |
| 1 | g.216246847A>C | CA344864559 | USH2A | c.2547T>G (p.Cys849Trp)
| |
| 1 | g.216246847A>G | CA423431774 | USH2A | c.2547T>C (p.Cys849=)
| |
| 1 | g.216246847A>T | CA344864560 | USH2A | c.2547T>A (p.Cys849Ter)
| |
| 1 | g.216246848C>A | CA344864561 | USH2A | c.2546G>T (p.Cys849Phe)
| |
| 1 | g.216246848C= | CA1141189304 | USH2A | c.2546G= (p.Cys849=)
| |
| 1 | g.216246848C>G | CA344864562 | USH2A | c.2546G>C (p.Cys849Ser)
| gnomAD v4 |
| 1 | g.216246848C>T | CA143442 | USH2A | c.2546G>A (p.Cys849Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246849A>C | CA344864563 | USH2A | c.2545T>G (p.Cys849Gly)
| |
| 1 | g.216246849A>G | CA344864564 | USH2A | c.2545T>C (p.Cys849Arg)
| |
| 1 | g.216246849A>T | CA344864565 | USH2A | c.2545T>A (p.Cys849Ser)
| |
| 1 | g.216246850G>A | CA423431780 | USH2A | c.2544C>T (p.Asn848=)
| |
| 1 | g.216246850G>C | CA37501267 | USH2A | c.2544C>G (p.Asn848Lys)
| dbSNP |
| 1 | g.216246850G= | CA1220619148 | USH2A | c.2544C= (p.Asn848=)
| |
| 1 | g.216246850G>T | CA344864566 | USH2A | c.2544C>A (p.Asn848Lys)
| |
| 1 | g.216246851T>A | CA344864567 | USH2A | c.2543A>T (p.Asn848Ile)
| |
| 1 | g.216246851T>C | CA344864568 | USH2A | c.2543A>G (p.Asn848Ser)
| |
| 1 | g.216246851T>G | CA344864569 | USH2A | c.2543A>C (p.Asn848Thr)
| |
| 1 | g.216246852T>A | CA344864570 | USH2A | c.2542A>T (p.Asn848Tyr)
| |
| 1 | g.216246852T>C | CA344864571 | USH2A | c.2542A>G (p.Asn848Asp)
| gnomAD v4 |
| 1 | g.216246852T>G | CA344864572 | USH2A | c.2542A>C (p.Asn848His)
| |
| 1 | g.216246853G>A | CA423431790 | USH2A | c.2541C>T (p.Cys847=)
| |
| 1 | g.216246853G>C | CA344864573 | USH2A | c.2541C>G (p.Cys847Trp)
| |
| 1 | g.216246853G= | CA1148224994 | USH2A | c.2541C= (p.Cys847=)
| |
| 1 | g.216246853G>T | CA273290 | USH2A | c.2541C>A (p.Cys847Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246854C>A | CA344864574 | USH2A | c.2540G>T (p.Cys847Phe)
| |
| 1 | g.216246854C>G | CA344864576 | USH2A | c.2540G>C (p.Cys847Ser)
| |
| 1 | g.216246854C>T | CA344864575 | USH2A | c.2540G>A (p.Cys847Tyr)
| |
| 1 | g.216246855A= | CA1220619149 | USH2A | c.2539T= (p.Cys847=)
| |
| 1 | g.216246855A>C | CA344864577 | USH2A | c.2539T>G (p.Cys847Gly)
| |
| 1 | g.216246855A>G | CA37501275 | USH2A | c.2539T>C (p.Cys847Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246855A>T | CA344864578 | USH2A | c.2539T>A (p.Cys847Ser)
| |
| 1 | g.216246856A>C | CA423431799 | USH2A | c.2538T>G (p.Pro846=)
| |
| 1 | g.216246856A>G | CA423431801 | USH2A | c.2538T>C (p.Pro846=)
| |
| 1 | g.216246856A>T | CA423431802 | USH2A | c.2538T>A (p.Pro846=)
| |
| 1 | g.216246857G>A | CA344864579 | USH2A | c.2537C>T (p.Pro846Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246857G>C | CA344864580 | USH2A | c.2537C>G (p.Pro846Arg)
| |
| 1 | g.216246857G= | CA1220619150 | USH2A | c.2537C= (p.Pro846=)
| |
| 1 | g.216246857G>T | CA344864581 | USH2A | c.2537C>A (p.Pro846His)
| |
| 1 | g.216246858G>A | CA1396215 | USH2A | c.2536C>T (p.Pro846Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246858G>C | CA344864582 | USH2A | c.2536C>G (p.Pro846Ala)
| |
| 1 | g.216246858G= | CA1149061104 | USH2A | c.2536C= (p.Pro846=)
| |
| 1 | g.216246858G>T | CA344864583 | USH2A | c.2536C>A (p.Pro846Thr)
| |
| 1 | g.216246859C>A | CA423431804 | USH2A | c.2535G>T (p.Leu845=)
| |
| 1 | g.216246859C>G | CA423431805 | USH2A | c.2535G>C (p.Leu845=)
| |
| 1 | g.216246859C>T | CA423431806 | USH2A | c.2535G>A (p.Leu845=)
| ClinVar dbSNP |
| 1 | g.216246859_216246860delinsCA | CA1220619151 | USH2A | c.2534_2535delinsTG (p.Leu845=)
| |
| 1 | g.216246863_216246866del | CA2586964549 | USH2A | c.2532_2535del (p.Pro846AlafsTer9)
| ClinVar |
| 1 | g.216246860del | CA915942024 | USH2A | c.2534del (p.Leu845ArgfsTer11)
| ClinVar dbSNP |
| 1 | g.216246860A>C | CA344864586 | USH2A | c.2534T>G (p.Leu845Arg)
| |
| 1 | g.216246860A>G | CA344864585 | USH2A | c.2534T>C (p.Leu845Pro)
| |
| 1 | g.216246860A>T | CA344864584 | USH2A | c.2534T>A (p.Leu845Gln)
| |
| 1 | g.216246861G>A | CA423431810 | USH2A | c.2533C>T (p.Leu845=)
| gnomAD v4 |
| 1 | g.216246861G>C | CA344864587 | USH2A | c.2533C>G (p.Leu845Val)
| |
| 1 | g.216246861G>T | CA344864588 | USH2A | c.2533C>A (p.Leu845Met)
| |
| 1 | g.216246862A>C | CA344864589 | USH2A | c.2532T>G (p.Cys844Trp)
| |
| 1 | g.216246862A>G | CA423431813 | USH2A | c.2532T>C (p.Cys844=)
| ClinVar dbSNP |
| 1 | g.216246862A>T | CA344864590 | USH2A | c.2532T>A (p.Cys844Ter)
| |
| 1 | g.216246863_216246864del | CA2573132759 | USH2A | c.2531_2532del (p.Cys844SerfsTer6)
| ClinVar dbSNP |
| 1 | g.216246863C>A | CA344864591 | USH2A | c.2531G>T (p.Cys844Phe)
| |
| 1 | g.216246863C= | CA1147069712 | USH2A | c.2531G= (p.Cys844=)
| |
| 1 | g.216246863C>G | CA1396216 | USH2A | c.2531G>C (p.Cys844Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.216246863C>T | CA37501309 | USH2A | c.2531G>A (p.Cys844Tyr)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246864A= | CA1220619152 | USH2A | c.2530T= (p.Cys844=)
| |
| 1 | g.216246864A>C | CA344864592 | USH2A | c.2530T>G (p.Cys844Gly)
| |
| 1 | g.216246864A>G | CA344864593 | USH2A | c.2530T>C (p.Cys844Arg)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246864A>T | CA344864594 | USH2A | c.2530T>A (p.Cys844Ser)
| COSMIC |
| 1 | g.216246865G>A | CA423431817 | USH2A | c.2529C>T (p.Leu843=)
| COSMIC COSMIC COSMIC |
| 1 | g.216246865G>C | CA423431818 | USH2A | c.2529C>G (p.Leu843=)
| |
| 1 | g.216246865G>T | CA423431819 | USH2A | c.2529C>A (p.Leu843=)
| COSMIC COSMIC COSMIC |
| 1 | g.216246866A= | CA1220619153 | USH2A | c.2528T= (p.Leu843=)
| |
| 1 | g.216246866A>C | CA1396217 | USH2A | c.2528T>G (p.Leu843Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246866A>G | CA344864595 | USH2A | c.2528T>C (p.Leu843Pro)
| gnomAD v4 |
| 1 | g.216246866A>T | CA344864596 | USH2A | c.2528T>A (p.Leu843His)
| |
| 1 | g.216246867G>A | CA344864599 | USH2A | c.2527C>T (p.Leu843Phe)
| |
| 1 | g.216246867G>C | CA344864597 | USH2A | c.2527C>G (p.Leu843Val)
| |
| 1 | g.216246867G>T | CA344864598 | USH2A | c.2527C>A (p.Leu843Ile)
| |
| 1 | g.216246868G>A | CA423431822 | USH2A | c.2526C>T (p.Phe842=)
| COSMIC COSMIC COSMIC |
| 1 | g.216246868G>C | CA344864600 | USH2A | c.2526C>G (p.Phe842Leu)
| |
| 1 | g.216246868G= | CA1220619154 | USH2A | c.2526C= (p.Phe842=)
| |
| 1 | g.216246868G>T | CA344864601 | USH2A | c.2526C>A (p.Phe842Leu)
| |
| 1 | g.216246869A>C | CA344864602 | USH2A | c.2525T>G (p.Phe842Cys)
| |
| 1 | g.216246869A>G | CA344864603 | USH2A | c.2525T>C (p.Phe842Ser)
| |
| 1 | g.216246869A>T | CA344864604 | USH2A | c.2525T>A (p.Phe842Tyr)
| gnomAD v4 |
| 1 | g.216246871dup | CA731431550 | USH2A | c.2525dup (p.Leu843ProfsTer8)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.216246871del | CA2580062128 | USH2A | c.2525del (p.Phe842SerfsTer14)
| ClinVar |
| 1 | g.216246870A>C | CA344864605 | USH2A | c.2524T>G (p.Phe842Val)
| |
| 1 | g.216246870A>G | CA344864606 | USH2A | c.2524T>C (p.Phe842Leu)
| |
| 1 | g.216246870A>T | CA344864607 | USH2A | c.2524T>A (p.Phe842Ile)
| |
| 1 | g.216246871A= | CA1220619155 | USH2A | c.2523T= (p.Ser841=)
| |
| 1 | g.216246871A>C | CA423431824 | USH2A | c.2523T>G (p.Ser841=)
| |
| 1 | g.216246871A>G | CA1396218 | USH2A | c.2523T>C (p.Ser841=)
| dbSNP ExAC gnomAD v2 |
| 1 | g.216246871A>T | CA423431826 | USH2A | c.2523T>A (p.Ser841=)
| |
| 1 | g.216246872G>A | CA344864608 | USH2A | c.2522C>T (p.Ser841Phe)
| |
| 1 | g.216246872G>C | CA344864609 | USH2A | c.2522C>G (p.Ser841Cys)
| |
| 1 | g.216246872G= | CA1141189308 | USH2A | c.2522C= (p.Ser841=)
| |
| 1 | g.216246872G>T | CA248655 | USH2A | c.2522C>A (p.Ser841Tyr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246873A>C | CA344864612 | USH2A | c.2521T>G (p.Ser841Ala)
| |
| 1 | g.216246873A>G | CA344864611 | USH2A | c.2521T>C (p.Ser841Pro)
| |
| 1 | g.216246873A>T | CA344864610 | USH2A | c.2521T>A (p.Ser841Thr)
| |
| 1 | g.216246874A= | CA1220619156 | USH2A | c.2520T= (p.Asn840=)
| |
| 1 | g.216246874A>C | CA344864614 | USH2A | c.2520T>G (p.Asn840Lys)
| |
| 1 | g.216246874A>G | CA423431827 | USH2A | c.2520T>C (p.Asn840=)
| |
| 1 | g.216246874A>T | CA344864613 | USH2A | c.2520T>A (p.Asn840Lys)
| dbSNP |
| 1 | g.216246875T>A | CA344864617 | USH2A | c.2519A>T (p.Asn840Ile)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246875T>C | CA344864615 | USH2A | c.2519A>G (p.Asn840Ser)
| |
| 1 | g.216246875T>G | CA344864616 | USH2A | c.2519A>C (p.Asn840Thr)
| |
| 1 | g.216246875T= | CA1220619157 | USH2A | c.2519A= (p.Asn840=)
| |
| 1 | g.216246876T>A | CA344864618 | USH2A | c.2518A>T (p.Asn840Tyr)
| |
| 1 | g.216246876T>C | CA1396219 | USH2A | c.2518A>G (p.Asn840Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246876T>G | CA344864619 | USH2A | c.2518A>C (p.Asn840His)
| |
| 1 | g.216246876T= | CA1220619158 | USH2A | c.2518A= (p.Asn840=)
| |
| 1 | g.216246877A>C | CA344864620 | USH2A | c.2517T>G (p.Asn839Lys)
| |
| 1 | g.216246877A>G | CA423431833 | USH2A | c.2517T>C (p.Asn839=)
| gnomAD v4 |
| 1 | g.216246877A>T | CA344864621 | USH2A | c.2517T>A (p.Asn839Lys)
| |
| 1 | g.216246878T>A | CA344864622 | USH2A | c.2516A>T (p.Asn839Ile)
| |
| 1 | g.216246878T>C | CA344864623 | USH2A | c.2516A>G (p.Asn839Ser)
| gnomAD v4 |
| 1 | g.216246878T>G | CA344864624 | USH2A | c.2516A>C (p.Asn839Thr)
| |
| 1 | g.216246879T>A | CA344864625 | USH2A | c.2515A>T (p.Asn839Tyr)
| |
| 1 | g.216246879T>C | CA344864626 | USH2A | c.2515A>G (p.Asn839Asp)
| |
| 1 | g.216246879T>G | CA344864627 | USH2A | c.2515A>C (p.Asn839His)
| |
| 1 | g.216246880T>A | CA344864628 | USH2A | c.2514A>T (p.Gln838His)
| |
| 1 | g.216246880T>C | CA37501314 | USH2A | c.2514A>G (p.Gln838=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.216246880T>G | CA344864629 | USH2A | c.2514A>C (p.Gln838His)
| |
| 1 | g.216246880T= | CA1220619159 | USH2A | c.2514A= (p.Gln838=)
| |
| 1 | g.216246881T>A | CA344864630 | USH2A | c.2513A>T (p.Gln838Leu)
| |
| 1 | g.216246881T>C | CA344864631 | USH2A | c.2513A>G (p.Gln838Arg)
| |
| 1 | g.216246881T>G | CA344864632 | USH2A | c.2513A>C (p.Gln838Pro)
| |
| 1 | g.216246882G>A | CA344864633 | USH2A | c.2512C>T (p.Gln838Ter)
| gnomAD v4 |
| 1 | g.216246882G>C | CA344864634 | USH2A | c.2512C>G (p.Gln838Glu)
| |
| 1 | g.216246882G= | CA1220619160 | USH2A | c.2512C= (p.Gln838=)
| |
| 1 | g.216246882G>T | CA344864635 | USH2A | c.2512C>A (p.Gln838Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246883C>A | CA423431841 | USH2A | c.2511G>T (p.Arg837=)
| |
| 1 | g.216246883C= | CA1220619161 | USH2A | c.2511G= (p.Arg837=)
| |
| 1 | g.216246883C>G | CA423431843 | USH2A | c.2511G>C (p.Arg837=)
| |
| 1 | g.216246883C>T | CA423431844 | USH2A | c.2511G>A (p.Arg837=)
| dbSNP |
| 1 | g.216246884C>A | CA344864636 | USH2A | c.2510G>T (p.Arg837Leu)
| |
| 1 | g.216246884C= | CA1142250611 | USH2A | c.2510G= (p.Arg837=)
| |
| 1 | g.216246884C>G | CA344864637 | USH2A | c.2510G>C (p.Arg837Pro)
| |
| 1 | g.216246884C>T | CA179584 | USH2A | c.2510G>A (p.Arg837Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246885G>A | CA1396220 | USH2A | c.2509C>T (p.Arg837Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.216246885G>C | CA344864638 | USH2A | c.2509C>G (p.Arg837Gly)
| gnomAD v4 |
| 1 | g.216246885G= | CA1141880944 | USH2A | c.2509C= (p.Arg837=)
| |
| 1 | g.216246885G>T | CA423431848 | USH2A | c.2509C>A (p.Arg837=)
| ClinVar gnomAD v4 |
| 1 | g.216246886T>A | CA423431849 | USH2A | c.2508A>T (p.Leu836=)
| |
| 1 | g.216246886T>C | CA423431850 | USH2A | c.2508A>G (p.Leu836=)
| ClinVar |
| 1 | g.216246886T>G | CA423431851 | USH2A | c.2508A>C (p.Leu836=)
| |
| 1 | g.216246887A>C | CA344864640 | USH2A | c.2507T>G (p.Leu836Arg)
| |
| 1 | g.216246887A>G | CA344864641 | USH2A | c.2507T>C (p.Leu836Pro)
| |
| 1 | g.216246887A>T | CA344864639 | USH2A | c.2507T>A (p.Leu836Gln)
| |
| 1 | g.216246888G>A | CA423431855 | USH2A | c.2506C>T (p.Leu836=)
| ClinVar gnomAD v4 |
| 1 | g.216246888G>C | CA1396221 | USH2A | c.2506C>G (p.Leu836Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.216246888G= | CA1220619162 | USH2A | c.2506C= (p.Leu836=)
| |
| 1 | g.216246888G>T | CA344864642 | USH2A | c.2506C>A (p.Leu836Ile)
| |
| 1 | g.216246889G>A | CA423431856 | USH2A | c.2505C>T (p.Tyr835=)
| gnomAD v4 |
| 1 | g.216246889G>C | CA344864643 | USH2A | c.2505C>G (p.Tyr835Ter)
| |
| 1 | g.216246889G>T | CA344864644 | USH2A | c.2505C>A (p.Tyr835Ter)
| |
| 1 | g.216246890T>A | CA344864645 | USH2A | c.2504A>T (p.Tyr835Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246890T>C | CA344864646 | USH2A | c.2504A>G (p.Tyr835Cys)
| |
| 1 | g.216246890T>G | CA344864647 | USH2A | c.2504A>C (p.Tyr835Ser)
| |
| 1 | g.216246890T= | CA1220619163 | USH2A | c.2504A= (p.Tyr835=)
| |
| 1 | g.216246891A>C | CA344864648 | USH2A | c.2503T>G (p.Tyr835Asp)
| |
| 1 | g.216246891A>G | CA344864649 | USH2A | c.2503T>C (p.Tyr835His)
| |
| 1 | g.216246891A>T | CA344864650 | USH2A | c.2503T>A (p.Tyr835Asn)
| |
| 1 | g.216246892G>A | CA423431862 | USH2A | c.2502C>T (p.Phe834=)
| |
| 1 | g.216246892G>C | CA344864651 | USH2A | c.2502C>G (p.Phe834Leu)
| |
| 1 | g.216246892G>T | CA344864652 | USH2A | c.2502C>A (p.Phe834Leu)
| |
| 1 | g.216246893A>C | CA344864654 | USH2A | c.2501T>G (p.Phe834Cys)
| |
| 1 | g.216246893A>G | CA344864655 | USH2A | c.2501T>C (p.Phe834Ser)
| |
| 1 | g.216246893A>T | CA344864653 | USH2A | c.2501T>A (p.Phe834Tyr)
| |
| 1 | g.216246894A>C | CA344864656 | USH2A | c.2500T>G (p.Phe834Val)
| dbSNP |
| 1 | g.216246894A>G | CA344864657 | USH2A | c.2500T>C (p.Phe834Leu)
| |
| 1 | g.216246894A>T | CA344864658 | USH2A | c.2500T>A (p.Phe834Ile)
| |
| 1 | g.216246895G>A | CA423431865 | USH2A | c.2499C>T (p.Asn833=)
| ClinVar |
| 1 | g.216246895G>C | CA344864659 | USH2A | c.2499C>G (p.Asn833Lys)
| |
| 1 | g.216246895G>T | CA344864660 | USH2A | c.2499C>A (p.Asn833Lys)
| COSMIC COSMIC COSMIC |
| 1 | g.216246896T>A | CA344864663 | USH2A | c.2498A>T (p.Asn833Ile)
| |
| 1 | g.216246896T>C | CA344864662 | USH2A | c.2498A>G (p.Asn833Ser)
| |
| 1 | g.216246896T>G | CA344864661 | USH2A | c.2498A>C (p.Asn833Thr)
| |
| 1 | g.216246898del | CA2739275653 | USH2A | c.2498del (p.Asn833ThrfsTer23)
| ClinVar |
| 1 | g.216246897T>A | CA344864664 | USH2A | c.2497A>T (p.Asn833Tyr)
| |
| 1 | g.216246897T>C | CA344864665 | USH2A | c.2497A>G (p.Asn833Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246897T>G | CA344864666 | USH2A | c.2497A>C (p.Asn833His)
| |
| 1 | g.216246897T= | CA1220619164 | USH2A | c.2497A= (p.Asn833=)
| |
| 1 | g.216246898T>A | CA423431868 | USH2A | c.2496A>T (p.Gly832=)
| |
| 1 | g.216246898T>C | CA37501320 | USH2A | c.2496A>G (p.Gly832=)
| dbSNP |
| 1 | g.216246898T>G | CA423431869 | USH2A | c.2496A>C (p.Gly832=)
| |
| 1 | g.216246898T= | CA1141812459 | USH2A | c.2496A= (p.Gly832=)
| |
| 1 | g.216246899C>A | CA344864667 | USH2A | c.2495G>T (p.Gly832Val)
| |
| 1 | g.216246899C= | CA1220619165 | USH2A | c.2495G= (p.Gly832=)
| |
| 1 | g.216246899C>G | CA344864668 | USH2A | c.2495G>C (p.Gly832Ala)
| |
| 1 | g.216246899C>T | CA37501324 | USH2A | c.2495G>A (p.Gly832Glu)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.216246900C>A | CA344864670 | USH2A | c.2494G>T (p.Gly832Ter)
| |
| 1 | g.216246900C>G | CA344864671 | USH2A | c.2494G>C (p.Gly832Arg)
| |
| 1 | g.216246900C>T | CA344864669 | USH2A | c.2494G>A (p.Gly832Arg)
| gnomAD v4 |
| 1 | g.216246901C>A | CA344864672 | USH2A | c.2493G>T (p.Glu831Asp)
| |
| 1 | g.216246901C>G | CA344864673 | USH2A | c.2493G>C (p.Glu831Asp)
| |
| 1 | g.216246901C>T | CA423431875 | USH2A | c.2493G>A (p.Glu831=)
| ClinVar gnomAD v4 |
| 1 | g.216246902T>A | CA1396222 | USH2A | c.2492A>T (p.Glu831Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.216246902T>C | CA344864674 | USH2A | c.2492A>G (p.Glu831Gly)
| |
| 1 | g.216246902T>G | CA344864675 | USH2A | c.2492A>C (p.Glu831Ala)
| |
| 1 | g.216246902T= | CA1220619166 | USH2A | c.2492A= (p.Glu831=)
| |
| 1 | g.216246903C>A | CA344864676 | USH2A | c.2491G>T (p.Glu831Ter)
| ClinVar COSMIC COSMIC COSMIC |
| 1 | g.216246903C= | CA1220619167 | USH2A | c.2491G= (p.Glu831=)
| |
| 1 | g.216246903C>G | CA344864677 | USH2A | c.2491G>C (p.Glu831Gln)
| dbSNP gnomAD v4 |
| 1 | g.216246903C>T | CA344864678 | USH2A | c.2491G>A (p.Glu831Lys)
| |
| 1 | g.216246904C>A | CA344864679 | USH2A | c.2490G>T (p.Leu830Phe)
| |
| 1 | g.216246904C= | CA1220619168 | USH2A | c.2490G= (p.Leu830=)
| |
| 1 | g.216246904C>G | CA344864680 | USH2A | c.2490G>C (p.Leu830Phe)
| |
| 1 | g.216246904C>T | CA423431878 | USH2A | c.2490G>A (p.Leu830=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.216246905A>C | CA344864681 | USH2A | c.2489T>G (p.Leu830Trp)
| gnomAD v4 |
| 1 | g.216246905A>G | CA344864682 | USH2A | c.2489T>C (p.Leu830Ser)
| |
| 1 | g.216246905A>T | CA344864683 | USH2A | c.2489T>A (p.Leu830Ter)
| |
| 1 | g.216246906A>C | CA344864684 | USH2A | c.2488T>G (p.Leu830Val)
| |
| 1 | g.216246906A>G | CA423431883 | USH2A | c.2488T>C (p.Leu830=)
| |
| 1 | g.216246906A>T | CA344864685 | USH2A | c.2488T>A (p.Leu830Met)
| |
| 1 | g.216246907A>C | CA344864687 | USH2A | c.2487T>G (p.Cys829Trp)
| |
| 1 | g.216246907A>G | CA423431886 | USH2A | c.2487T>C (p.Cys829=)
| |
| 1 | g.216246907A>T | CA344864686 | USH2A | c.2487T>A (p.Cys829Ter)
| |
| 1 | g.216246909_216246910insCACCCAACACA | CA2747735792 | USH2A | c.2487_2488insGTTGGGTGTGT (p.Leu830ValfsTer30)
| |
| 1 | g.216246908C>A | CA344864688 | USH2A | c.2486G>T (p.Cys829Phe)
| |
| 1 | g.216246908C>G | CA344864689 | USH2A | c.2486G>C (p.Cys829Ser)
| |
| 1 | g.216246908C>T | CA344864690 | USH2A | c.2486G>A (p.Cys829Tyr)
| gnomAD v4 |
| 1 | g.216246909A>C | CA344864691 | USH2A | c.2485T>G (p.Cys829Gly)
| |
| 1 | g.216246909A>G | CA344864692 | USH2A | c.2485T>C (p.Cys829Arg)
| |
| 1 | g.216246909A>T | CA344864693 | USH2A | c.2485T>A (p.Cys829Ser)
| |
| 1 | g.216246910T>A | CA344864694 | USH2A | c.2484A>T (p.Lys828Asn)
| |
| 1 | g.216246910T>C | CA423431890 | USH2A | c.2484A>G (p.Lys828=)
| |
| 1 | g.216246910T>G | CA344864695 | USH2A | c.2484A>C (p.Lys828Asn)
| |
| 1 | g.216246912del | CA2586964553 | USH2A | c.2484del (p.Lys828AsnfsTer28)
| |
| 1 | g.216246911T>A | CA344864696 | USH2A | c.2483A>T (p.Lys828Ile)
| |
| 1 | g.216246911T>C | CA344864697 | USH2A | c.2483A>G (p.Lys828Arg)
| |
| 1 | g.216246911T>G | CA344864698 | USH2A | c.2483A>C (p.Lys828Thr)
| |
| 1 | g.216246912T>A | CA344864699 | USH2A | c.2482A>T (p.Lys828Ter)
| |
| 1 | g.216246912T>C | CA344864700 | USH2A | c.2482A>G (p.Lys828Glu)
| |
| 1 | g.216246912T>G | CA344864701 | USH2A | c.2482A>C (p.Lys828Gln)
| |
| 1 | g.216246913A>C | CA344864702 | USH2A | c.2481T>G (p.Asn827Lys)
| |
| 1 | g.216246913A>G | CA423431898 | USH2A | c.2481T>C (p.Asn827=)
| ClinVar |
| 1 | g.216246913A>T | CA344864703 | USH2A | c.2481T>A (p.Asn827Lys)
| |
| 1 | g.216246914T>A | CA344864704 | USH2A | c.2480A>T (p.Asn827Ile)
| |
| 1 | g.216246914T>C | CA344864705 | USH2A | c.2480A>G (p.Asn827Ser)
| gnomAD v4 |
| 1 | g.216246914T>G | CA344864706 | USH2A | c.2480A>C (p.Asn827Thr)
| |
