| 1 | g.215817178_215817185delinsCAATCAAT | CA1148730919 | USH2A | c.9382_9389delinsATTGATTG (p.Ile3128=)
| |
| 1 | g.215817182_215817185del | CA1394324 | USH2A | c.9386_9389del (p.Asp3129GlyfsTer30)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817182C>A | CA344825436 | USH2A | c.9385G>T (p.Asp3129Tyr)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215817182C= | CA1220434365 | USH2A | c.9385G= (p.Asp3129=)
| |
| 1 | g.215817182C>G | CA344825440 | USH2A | c.9385G>C (p.Asp3129His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817182C>T | CA344825437 | USH2A | c.9385G>A (p.Asp3129Asn)
| COSMIC COSMIC |
| 1 | g.215817183A>C | CA344825443 | USH2A | c.9384T>G (p.Ile3128Met)
| |
| 1 | g.215817183A>G | CA423309164 | USH2A | c.9384T>C (p.Ile3128=)
| |
| 1 | g.215817183A>T | CA423309166 | USH2A | c.9384T>A (p.Ile3128=)
| |
| 1 | g.215817184A= | CA1220434366 | USH2A | c.9383T= (p.Ile3128=)
| |
| 1 | g.215817184A>C | CA344825446 | USH2A | c.9383T>G (p.Ile3128Ser)
| |
| 1 | g.215817184A>G | CA344825448 | USH2A | c.9383T>C (p.Ile3128Thr)
| |
| 1 | g.215817184A>T | CA344825449 | USH2A | c.9383T>A (p.Ile3128Asn)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817185T>A | CA344825451 | USH2A | c.9382A>T (p.Ile3128Phe)
| |
| 1 | g.215817185T>C | CA344825454 | USH2A | c.9382A>G (p.Ile3128Val)
| gnomAD v4 |
| 1 | g.215817185T>G | CA344825456 | USH2A | c.9382A>C (p.Ile3128Leu)
| |
| 1 | g.215817186T>A | CA344825459 | USH2A | c.9381A>T (p.Gln3127His)
| |
| 1 | g.215817186T>C | CA37428168 | USH2A | c.9381A>G (p.Gln3127=)
| ClinVar dbSNP |
| 1 | g.215817186T>G | CA344825464 | USH2A | c.9381A>C (p.Gln3127His)
| |
| 1 | g.215817186T= | CA1220434367 | USH2A | c.9381A= (p.Gln3127=)
| |
| 1 | g.215817187T>A | CA344825470 | USH2A | c.9380A>T (p.Gln3127Leu)
| |
| 1 | g.215817187T>C | CA344825471 | USH2A | c.9380A>G (p.Gln3127Arg)
| |
| 1 | g.215817187T>G | CA344825468 | USH2A | c.9380A>C (p.Gln3127Pro)
| |
| 1 | g.215817188G>A | CA344825472 | USH2A | c.9379C>T (p.Gln3127Ter)
| ClinVar |
| 1 | g.215817188G>C | CA344825473 | USH2A | c.9379C>G (p.Gln3127Glu)
| |
| 1 | g.215817188G>T | CA344825476 | USH2A | c.9379C>A (p.Gln3127Lys)
| |
| 1 | g.215817189A>C | CA423309190 | USH2A | c.9378T>G (p.Leu3126=)
| |
| 1 | g.215817189A>G | CA423309188 | USH2A | c.9378T>C (p.Leu3126=)
| ClinVar dbSNP |
| 1 | g.215817189A>T | CA423309186 | USH2A | c.9378T>A (p.Leu3126=)
| |
| 1 | g.215817190A>C | CA344825477 | USH2A | c.9377T>G (p.Leu3126Arg)
| |
| 1 | g.215817190A>G | CA344825484 | USH2A | c.9377T>C (p.Leu3126Pro)
| |
| 1 | g.215817190A>T | CA344825486 | USH2A | c.9377T>A (p.Leu3126His)
| |
| 1 | g.215817191G>A | CA344825489 | USH2A | c.9376C>T (p.Leu3126Phe)
| gnomAD v4 |
| 1 | g.215817191G>C | CA344825490 | USH2A | c.9376C>G (p.Leu3126Val)
| dbSNP |
| 1 | g.215817191G= | CA1220434368 | USH2A | c.9376C= (p.Leu3126=)
| |
| 1 | g.215817191G>T | CA344825493 | USH2A | c.9376C>A (p.Leu3126Ile)
| |
| 1 | g.215817192del | CA2586968195 | USH2A | c.9375del (p.Leu3126PhefsTer?)
| |
| 1 | g.215817192A>C | CA423309199 | USH2A | c.9375T>G (p.Ser3125=)
| |
| 1 | g.215817192A>G | CA423309200 | USH2A | c.9375T>C (p.Ser3125=)
| |
| 1 | g.215817192A>T | CA423309202 | USH2A | c.9375T>A (p.Ser3125=)
| COSMIC COSMIC |
| 1 | g.215817193G>A | CA344825496 | USH2A | c.9374C>T (p.Ser3125Phe)
| COSMIC COSMIC |
| 1 | g.215817193G>C | CA344825498 | USH2A | c.9374C>G (p.Ser3125Cys)
| |
| 1 | g.215817193G= | CA1220434369 | USH2A | c.9374C= (p.Ser3125=)
| |
| 1 | g.215817193G>T | CA1394327 | USH2A | c.9374C>A (p.Ser3125Tyr)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817194A= | CA1220434370 | USH2A | c.9373T= (p.Ser3125=)
| |
| 1 | g.215817194A>C | CA344825509 | USH2A | c.9373T>G (p.Ser3125Ala)
| gnomAD v4 |
| 1 | g.215817194A>G | CA344825503 | USH2A | c.9373T>C (p.Ser3125Pro)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817194A>T | CA344825505 | USH2A | c.9373T>A (p.Ser3125Thr)
| |
| 1 | g.215817195T>A | CA344825512 | USH2A | c.9372A>T (p.Arg3124Ser)
| |
| 1 | g.215817195T>C | CA1394328 | USH2A | c.9372A>G (p.Arg3124=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817195T>G | CA344825515 | USH2A | c.9372A>C (p.Arg3124Ser)
| |
| 1 | g.215817195T= | CA1220434371 | USH2A | c.9372A= (p.Arg3124=)
| |
| 1 | g.215817196C>A | CA344825519 | USH2A | c.9372-1G>T (n.9372-1G>T)
| COSMIC COSMIC |
| 1 | g.215817196C= | CA1220434372 | USH2A | c.9372-1G= (n.9372-1G=)
| |
| 1 | g.215817196C>G | CA344825522 | USH2A | c.9372-1G>C (n.9372-1G>C)
| |
| 1 | g.215817196C>T | CA344825524 | USH2A | c.9372-1G>A (n.9372-1G>A)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817196_215817200del | CA2747722478 | USH2A | c.9372-5_9372-1del (n.9372-5_9372-1del)
| |
| 1 | g.215817197T>A | CA344825526 | USH2A | c.9372-2A>T (n.9372-2A>T)
| |
| 1 | g.215817197T>C | CA344825528 | USH2A | c.9372-2A>G (n.9372-2A>G)
| |
| 1 | g.215817197T>G | CA344825530 | USH2A | c.9372-2A>C (n.9372-2A>C)
| |
| 1 | g.215817198G>A | CA529002415 | USH2A | c.9372-3C>T (n.9372-3C>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817198G= | CA1220434373 | USH2A | c.9372-3C= (n.9372-3C=)
| |
| 1 | g.215817198G>T | CA1394329 | USH2A | c.9372-3C>A (n.9372-3C>A)
| dbSNP ExAC gnomAD v2 |
| 1 | g.215817199C>A | CA1394330 | USH2A | c.9372-4G>T (n.9372-4G>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817199C= | CA1143386225 | USH2A | c.9372-4G= (n.9372-4G=)
| |
| 1 | g.215817199C>T | CA915942014 | USH2A | c.9372-4G>A (n.9372-4G>A)
| ClinVar dbSNP |
| 1 | g.215817200A= | CA1220434374 | USH2A | c.9372-5T= (n.9372-5T=)
| |
| 1 | g.215817200A>G | CA1394331 | USH2A | c.9372-5T>C (n.9372-5T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817202_215817203del | CA2573131607 | USH2A | c.9372-7_9372-6del (n.9372-7_9372-6del)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215817202C>G | CA2650528370 | USH2A | c.9372-7G>C (n.9372-7G>C)
| gnomAD v4 |
| 1 | g.215817203A= | CA1143445521 | USH2A | c.9372-8T= (n.9372-8T=)
| |
| 1 | g.215817203A>G | CA1394332 | USH2A | c.9372-8T>C (n.9372-8T>C)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817204G= | CA1220434375 | USH2A | c.9372-9C= (n.9372-9C=)
| |
| 1 | g.215817204G>T | CA529002416 | USH2A | c.9372-9C>A (n.9372-9C>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817205A>G | CA2541151355 | USH2A | c.9372-10T>C (n.9372-10T>C)
| |
| 1 | g.215817206G>A | CA1394333 | USH2A | c.9372-11C>T (n.9372-11C>T)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215817206G>C | CA1220434377 | USH2A | c.9372-11C>G (n.9372-11C>G)
| dbSNP gnomAD v4 |
| 1 | g.215817206G= | CA1220434376 | USH2A | c.9372-11C= (n.9372-11C=)
| |
| 1 | g.215817207A>C | CA2697554882 | USH2A | c.9372-12T>G (n.9372-12T>G)
| ClinVar |
| 1 | g.215817209A= | CA1220434378 | USH2A | c.9372-14T= (n.9372-14T=)
| |
| 1 | g.215817209A>C | CA2574002056 | USH2A | c.9372-14T>G (n.9372-14T>G)
| gnomAD v4 |
| 1 | g.215817209A>G | CA646411472 | USH2A | c.9372-14T>C (n.9372-14T>C)
| COSMIC |
| 1 | g.215817209A>T | CA529002417 | USH2A | c.9372-14T>A (n.9372-14T>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817211T>C | CA2650528371 | USH2A | c.9372-16A>G (n.9372-16A>G)
| gnomAD v4 |
| 1 | g.215817213A>G | CA2650528372 | USH2A | c.9372-18T>C (n.9372-18T>C)
| gnomAD v4 |
| 1 | g.215817214T>C | CA529002418 | USH2A | c.9372-19A>G (n.9372-19A>G)
| dbSNP gnomAD v2 |
| 1 | g.215817214T= | CA1220434379 | USH2A | c.9372-19A= (n.9372-19A=)
| |
| 1 | g.215817217A= | CA1220434380 | USH2A | c.9372-22T= (n.9372-22T=)
| |
| 1 | g.215817217A>G | CA1220434381 | USH2A | c.9372-22T>C (n.9372-22T>C)
| dbSNP gnomAD v4 |
| 1 | g.215817217A>T | CA2574002061 | USH2A | c.9372-22T>A (n.9372-22T>A)
| gnomAD v4 |
| 1 | g.215817220C>T | CA2650528373 | USH2A | c.9372-25G>A (n.9372-25G>A)
| gnomAD v4 |
| 1 | g.215817220_215817221insACA | CA2747722479 | USH2A | c.9372-26_9372-25insTGT (n.9372-26_9372-25insTGT)
| |
| 1 | g.215817221_215817230del | CA2747722480 | USH2A | c.9372-35_9372-26del (n.9372-35_9372-26del)
| |
| 1 | g.215817221_215817222insACA | CA2747722481 | USH2A | c.9372-27_9372-26insTGT (n.9372-27_9372-26insTGT)
| |
| 1 | g.215817223C= | CA1220434382 | USH2A | c.9372-28G= (n.9372-28G=)
| |
| 1 | g.215817223C>T | CA37428185 | USH2A | c.9372-28G>A (n.9372-28G>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817224_215817228del | CA2747722482 | USH2A | c.9372-33_9372-29del (n.9372-33_9372-29del)
| |
| 1 | g.215817225G>C | CA2650528374 | USH2A | c.9372-30C>G (n.9372-30C>G)
| gnomAD v4 |
| 1 | g.215817225_215817226delinsGA | CA1220434383 | USH2A | c.9372-31_9372-30delinsTC (n.9372-31_9372-30delinsTC)
| |
| 1 | g.215817229del | CA1394334 | USH2A | c.9372-31del (n.9372-31del)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817228A= | CA1220434384 | USH2A | c.9372-33T= (n.9372-33T=)
| |
| 1 | g.215817228A>T | CA528709815 | USH2A | c.9372-33T>A (n.9372-33T>A)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817228_215817234del | CA2747722483 | USH2A | c.9372-39_9372-33del (n.9372-39_9372-33del)
| |
| 1 | g.215817230G>A | CA2574002105 | USH2A | c.9372-35C>T (n.9372-35C>T)
| |
| 1 | g.215817230G>T | CA2574002104 | USH2A | c.9372-35C>A (n.9372-35C>A)
| gnomAD v4 |
| 1 | g.215817231A>T | CA2747722484 | USH2A | c.9372-36T>A (n.9372-36T>A)
| |
| 1 | g.215817232C>T | CA2698106724 | USH2A | c.9372-37G>A (n.9372-37G>A)
| dbSNP |
| 1 | g.215817233A= | CA1220434385 | USH2A | c.9372-38T= (n.9372-38T=)
| |
| 1 | g.215817233A>G | CA37428188 | USH2A | c.9372-38T>C (n.9372-38T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817234C>A | CA528709816 | USH2A | c.9372-39G>T (n.9372-39G>T)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215817234C= | CA1220434386 | USH2A | c.9372-39G= (n.9372-39G=)
| |
| 1 | g.215817235T>C | CA2650528375 | USH2A | c.9372-40A>G (n.9372-40A>G)
| gnomAD v4 |
| 1 | g.215817235_215817240del | CA2747722486 | USH2A | c.9372-45_9372-40del (n.9372-45_9372-40del)
| |
| 1 | g.215817237_215817240del | CA2747722485 | USH2A | c.9372-43_9372-40del (n.9372-43_9372-40del)
| |
| 1 | g.215817236dup | CA2747722487 | USH2A | c.9372-41dup (n.9372-41dup)
| |
| 1 | g.215817236_215817249del | CA2747722488 | USH2A | c.9372-54_9372-41del (n.9372-54_9372-41del)
| |
| 1 | g.215817237T>C | CA2650528376 | USH2A | c.9372-42A>G (n.9372-42A>G)
| gnomAD v4 |
| 1 | g.215817239_215817240del | CA2747722489 | USH2A | c.9372-45_9372-44del (n.9372-45_9372-44del)
| |
| 1 | g.215817240A= | CA1220434387 | USH2A | c.9372-45T= (n.9372-45T=)
| |
| 1 | g.215817240A>T | CA1394335 | USH2A | c.9372-45T>A (n.9372-45T>A)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817242C>A | CA2650528377 | USH2A | c.9372-47G>T (n.9372-47G>T)
| gnomAD v4 |
| 1 | g.215817242C>G | CA2574002110 | USH2A | c.9372-47G>C (n.9372-47G>C)
| gnomAD v4 |
| 1 | g.215817242C>T | CA2574002191 | USH2A | c.9372-47G>A (n.9372-47G>A)
| gnomAD v4 |
| 1 | g.215817244T>C | CA1220434389 | USH2A | c.9372-49A>G (n.9372-49A>G)
| dbSNP gnomAD v4 |
| 1 | g.215817244T= | CA1220434388 | USH2A | c.9372-49A= (n.9372-49A=)
| |
| 1 | g.215817245T>A | CA2650528378 | USH2A | c.9372-50A>T (n.9372-50A>T)
| gnomAD v4 |
| 1 | g.215817245T>C | CA2574002198 | USH2A | c.9372-50A>G (n.9372-50A>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817245_215817246insA | CA2747722490 | USH2A | c.9372-51_9372-50insT (n.9372-51_9372-50insT)
| |
| 1 | g.215817246G>T | CA2747722492 | USH2A | c.9372-51C>A (n.9372-51C>A)
| |
| 1 | g.215817246_215817254del | CA2747722491 | USH2A | c.9372-59_9372-51del (n.9372-59_9372-51del)
| |
| 1 | g.215817247A= | CA1220434390 | USH2A | c.9372-52T= (n.9372-52T=)
| |
| 1 | g.215817247A>G | CA1394336 | USH2A | c.9372-52T>C (n.9372-52T>C)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817247A>T | CA2747722493 | USH2A | c.9372-52T>A (n.9372-52T>A)
| |
| 1 | g.215817248T>A | CA2747722495 | USH2A | c.9372-53A>T (n.9372-53A>T)
| |
| 1 | g.215817248_215817249del | CA2747722494 | USH2A | c.9372-54_9372-53del (n.9372-54_9372-53del)
| |
| 1 | g.215817248_215817249insACA | CA2747722496 | USH2A | c.9372-54_9372-53insTGT (n.9372-54_9372-53insTGT)
| |
| 1 | g.215817248_215817249insAGA | CA2747722497 | USH2A | c.9372-54_9372-53insTCT (n.9372-54_9372-53insTCT)
| |
| 1 | g.215817249G>A | CA2747722499 | USH2A | c.9372-54C>T (n.9372-54C>T)
| |
| 1 | g.215817249G>C | CA2650528379 | USH2A | c.9372-54C>G (n.9372-54C>G)
| gnomAD v4 |
| 1 | g.215817249_215817254del | CA2747722498 | USH2A | c.9372-59_9372-54del (n.9372-59_9372-54del)
| |
| 1 | g.215817249_215817250insACA | CA2747722500 | USH2A | c.9372-55_9372-54insTGT (n.9372-55_9372-54insTGT)
| |
| 1 | g.215817250C>T | CA2574002203 | USH2A | c.9372-55G>A (n.9372-55G>A)
| |
| 1 | g.215817250_215817251del | CA2747722503 | USH2A | c.9372-56_9372-55del (n.9372-56_9372-55del)
| |
| 1 | g.215817250_215817254del | CA2747722501 | USH2A | c.9372-59_9372-55del (n.9372-59_9372-55del)
| |
| 1 | g.215817251_215817254del | CA2747722502 | USH2A | c.9372-58_9372-55del (n.9372-58_9372-55del)
| |
| 1 | g.215817250_215817251insAG | CA2747722504 | USH2A | c.9372-56_9372-55insCT (n.9372-56_9372-55insCT)
| |
| 1 | g.215817251del | CA2747722505 | USH2A | c.9372-56del (n.9372-56del)
| |
| 1 | g.215817251T>A | CA2747722507 | USH2A | c.9372-56A>T (n.9372-56A>T)
| |
| 1 | g.215817251T>C | CA2650528380 | USH2A | c.9372-56A>G (n.9372-56A>G)
| gnomAD v4 |
| 1 | g.215817253_215817261del | CA2747722506 | USH2A | c.9372-64_9372-56del (n.9372-64_9372-56del)
| |
| 1 | g.215817252_215817253insGA | CA2747722508 | USH2A | c.9372-57_9372-56insCT (n.9372-57_9372-56insCT)
| |
| 1 | g.215817253T>A | CA2650528381 | USH2A | c.9372-58A>T (n.9372-58A>T)
| gnomAD v4 |
| 1 | g.215817253T>C | CA2574002310 | USH2A | c.9372-58A>G (n.9372-58A>G)
| gnomAD v4 |
| 1 | g.215817253_215817257del | CA2747722509 | USH2A | c.9372-62_9372-58del (n.9372-62_9372-58del)
| |
| 1 | g.215817254del | CA2747722510 | USH2A | c.9372-59del (n.9372-59del)
| |
| 1 | g.215817254_215817255del | CA2747722511 | USH2A | c.9372-60_9372-59del (n.9372-60_9372-59del)
| |
| 1 | g.215817254_215817261del | CA2747722512 | USH2A | c.9372-66_9372-59del (n.9372-66_9372-59del)
| |
| 1 | g.215817255A= | CA1220434391 | USH2A | c.9372-60T= (n.9372-60T=)
| |
| 1 | g.215817255A>G | CA2650528382 | USH2A | c.9372-60T>C (n.9372-60T>C)
| gnomAD v4 |
| 1 | g.215817255A>T | CA1220434392 | USH2A | c.9372-60T>A (n.9372-60T>A)
| dbSNP |
| 1 | g.215817255dup | CA2747722513 | USH2A | c.9372-60dup (n.9372-60dup)
| |
| 1 | g.215817255_215817256insACAG | CA2747722514 | USH2A | c.9372-61_9372-60insCTGT (n.9372-61_9372-60insCTGT)
| |
| 1 | g.215817256G>A | CA1012197834 | USH2A | c.9372-61C>T (n.9372-61C>T)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817256G>C | CA2747722515 | USH2A | c.9372-61C>G (n.9372-61C>G)
| |
| 1 | g.215817256G= | CA1220434393 | USH2A | c.9372-61C= (n.9372-61C=)
| |
| 1 | g.215817256G>T | CA2574002314 | USH2A | c.9372-61C>A (n.9372-61C>A)
| gnomAD v4 |
| 1 | g.215817256_215817257insAGA | CA2747722516 | USH2A | c.9372-62_9372-61insTCT (n.9372-62_9372-61insTCT)
| |
| 1 | g.215817257T>A | CA2747722519 | USH2A | c.9372-62A>T (n.9372-62A>T)
| |
| 1 | g.215817257dup | CA2747722517 | USH2A | c.9372-62dup (n.9372-62dup)
| |
| 1 | g.215817257_215817261del | CA2747722518 | USH2A | c.9372-66_9372-62del (n.9372-66_9372-62del)
| |
| 1 | g.215817257_215817258insA | CA2747722520 | USH2A | c.9372-63_9372-62insT (n.9372-63_9372-62insT)
| |
| 1 | g.215817258C>A | CA2650528383 | USH2A | c.9372-63G>T (n.9372-63G>T)
| gnomAD v4 |
| 1 | g.215817258C>T | CA2607170778 | USH2A | c.9372-63G>A (n.9372-63G>A)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817258_215817259insAG | CA2747722521 | USH2A | c.9372-64_9372-63insCT (n.9372-64_9372-63insCT)
| |
| 1 | g.215817259T>A | CA2747722524 | USH2A | c.9372-64A>T (n.9372-64A>T)
| |
| 1 | g.215817259_215817260del | CA2747722522 | USH2A | c.9372-65_9372-64del (n.9372-65_9372-64del)
| |
| 1 | g.215817260_215817264del | CA2747722523 | USH2A | c.9372-68_9372-64del (n.9372-68_9372-64del)
| |
| 1 | g.215817259_215817260insAC | CA2747722525 | USH2A | c.9372-65_9372-64insGT (n.9372-65_9372-64insGT)
| |
| 1 | g.215817260T>A | CA2650528384 | USH2A | c.9372-65A>T (n.9372-65A>T)
| gnomAD v4 |
| 1 | g.215817260T>C | CA2747722526 | USH2A | c.9372-65A>G (n.9372-65A>G)
| |
| 1 | g.215817260T>G | CA1012197835 | USH2A | c.9372-65A>C (n.9372-65A>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817260T= | CA1220434394 | USH2A | c.9372-65A= (n.9372-65A=)
| |
| 1 | g.215817261A= | CA1220434395 | USH2A | c.9372-66T= (n.9372-66T=)
| |
| 1 | g.215817261A>C | CA1012197836 | USH2A | c.9372-66T>G (n.9372-66T>G)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817261A>T | CA2650528386 | USH2A | c.9372-66T>A (n.9372-66T>A)
| gnomAD v4 |
| 1 | g.215817262del | CA2747722527 | USH2A | c.9372-66del (n.9372-66del)
| |
| 1 | g.215817263_215817267del | CA2650528385 | USH2A | c.9372-70_9372-66del (n.9372-70_9372-66del)
| gnomAD v4 |
| 1 | g.215817261_215817262insCC | CA2747722530 | USH2A | c.9372-67_9372-66insGG (n.9372-67_9372-66insGG)
| |
| 1 | g.215817261_215817262insGAC | CA2747722528 | USH2A | c.9372-67_9372-66insGTC (n.9372-67_9372-66insGTC)
| |
| 1 | g.215817262A>G | CA2747722529 | USH2A | c.9372-67T>C (n.9372-67T>C)
| |
| 1 | g.215817263G>A | CA2747722531 | USH2A | c.9372-68C>T (n.9372-68C>T)
| |
| 1 | g.215817263G>C | CA2747722532 | USH2A | c.9372-68C>G (n.9372-68C>G)
| |
| 1 | g.215817263G>T | CA2650528387 | USH2A | c.9372-68C>A (n.9372-68C>A)
| gnomAD v4 |
| 1 | g.215817263_215817264insACA | CA2747722533 | USH2A | c.9372-69_9372-68insTGT (n.9372-69_9372-68insTGT)
| |
| 1 | g.215817263_215817264insAGA | CA2747722534 | USH2A | c.9372-69_9372-68insTCT (n.9372-69_9372-68insTCT)
| |
| 1 | g.215817264T>A | CA2574002317 | USH2A | c.9372-69A>T (n.9372-69A>T)
| gnomAD v4 |
| 1 | g.215817264T>C | CA2747722535 | USH2A | c.9372-69A>G (n.9372-69A>G)
| |
| 1 | g.215817264T>G | CA1220434397 | USH2A | c.9372-69A>C (n.9372-69A>C)
| dbSNP |
| 1 | g.215817264T= | CA1220434396 | USH2A | c.9372-69A= (n.9372-69A=)
| |
| 1 | g.215817266A>C | CA2747722536 | USH2A | c.9372-71T>G (n.9372-71T>G)
| |
| 1 | g.215817268A= | CA1220434398 | USH2A | c.9372-73T= (n.9372-73T=)
| |
| 1 | g.215817268A>T | CA1220434399 | USH2A | c.9372-73T>A (n.9372-73T>A)
| dbSNP gnomAD v4 |
| 1 | g.215817269A>G | CA2650528388 | USH2A | c.9372-74T>C (n.9372-74T>C)
| gnomAD v4 |
| 1 | g.215817269_215817270delinsAG | CA1220434400 | USH2A | c.9372-75_9372-74delinsCT (n.9372-75_9372-74delinsCT)
| |
| 1 | g.215817270del | CA1220434402 | USH2A | c.9372-75del (n.9372-75del)
| dbSNP |
| 1 | g.215817270G>A | CA1220434401 | USH2A | c.9372-75C>T (n.9372-75C>T)
| dbSNP gnomAD v4 |
| 1 | g.215817270G>C | CA2747722538 | USH2A | c.9372-75C>G (n.9372-75C>G)
| |
| 1 | g.215817270G= | CA1220434403 | USH2A | c.9372-75C= (n.9372-75C=)
| |
| 1 | g.215817270G>T | CA2650528389 | USH2A | c.9372-75C>A (n.9372-75C>A)
| gnomAD v4 |
| 1 | g.215817271_215817272del | CA2747722537 | USH2A | c.9372-76_9372-75del (n.9372-76_9372-75del)
| |
| 1 | g.215817270_215817271insA | CA2747722542 | USH2A | c.9372-76_9372-75insT (n.9372-76_9372-75insT)
| |
| 1 | g.215817270_215817271insACAT | CA2747722543 | USH2A | c.9372-76_9372-75insATGT (n.9372-76_9372-75insATGT)
| |
| 1 | g.215817271T>C | CA2747722539 | USH2A | c.9372-76A>G (n.9372-76A>G)
| |
| 1 | g.215817271_215817280del | CA2747722540 | USH2A | c.9372-85_9372-76del (n.9372-85_9372-76del)
| |
| 1 | g.215817272_215817280del | CA2747722541 | USH2A | c.9372-84_9372-76del (n.9372-84_9372-76del)
| |
| 1 | g.215817271_215817272insACA | CA2747722545 | USH2A | c.9372-77_9372-76insTGT (n.9372-77_9372-76insTGT)
| |
| 1 | g.215817272G>A | CA2747722544 | USH2A | c.9372-77C>T (n.9372-77C>T)
| |
| 1 | g.215817273del | CA2574002323 | USH2A | c.9372-77del (n.9372-77del)
| |
| 1 | g.215817272_215817273insAGT | CA2747722546 | USH2A | c.9372-78_9372-77insACT (n.9372-78_9372-77insACT)
| |
| 1 | g.215817273G>A | CA2747722548 | USH2A | c.9372-78C>T (n.9372-78C>T)
| |
| 1 | g.215817273G= | CA1148237688 | USH2A | c.9372-78C= (n.9372-78C=)
| |
| 1 | g.215817273G>T | CA37428202 | USH2A | c.9372-78C>A (n.9372-78C>A)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817276_215817278del | CA2747722547 | USH2A | c.9372-80_9372-78del (n.9372-80_9372-78del)
| |
| 1 | g.215817274del | CA2650528390 | USH2A | c.9372-79del (n.9372-79del)
| gnomAD v4 |
| 1 | g.215817274C>T | CA2570396374 | USH2A | c.9372-79G>A (n.9372-79G>A)
| |
| 1 | g.215817274_215817280del | CA2747722549 | USH2A | c.9372-85_9372-79del (n.9372-85_9372-79del)
| |
| 1 | g.215817274_215817284del | CA2747722550 | USH2A | c.9372-89_9372-79del (n.9372-89_9372-79del)
| |
| 1 | g.215817275A>G | CA2607170779 | USH2A | c.9372-80T>C (n.9372-80T>C)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215817275_215817276insCAC | CA2747722555 | USH2A | c.9372-81_9372-80insGTG (n.9372-81_9372-80insGTG)
| |
| 1 | g.215817275_215817276insCAG | CA2747722554 | USH2A | c.9372-81_9372-80insCTG (n.9372-81_9372-80insCTG)
| |
| 1 | g.215817276del | CA2747722553 | USH2A | c.9372-81del (n.9372-81del)
| |
| 1 | g.215817276G>A | CA2650528391 | USH2A | c.9372-81C>T (n.9372-81C>T)
| gnomAD v4 |
| 1 | g.215817276G>C | CA2747722551 | USH2A | c.9372-81C>G (n.9372-81C>G)
| |
| 1 | g.215817276G>T | CA646411475 | USH2A | c.9372-81C>A (n.9372-81C>A)
| COSMIC |
| 1 | g.215817276_215817280del | CA2747722552 | USH2A | c.9372-85_9372-81del (n.9372-85_9372-81del)
| |
| 1 | g.215817276_215817277insAGT | CA2747722557 | USH2A | c.9372-82_9372-81insACT (n.9372-82_9372-81insACT)
| |
| 1 | g.215817276_215817277insAGGTGGAAGAAAATCTACATGTAAGTGGATCTGCA | CA2747722556 | USH2A | c.9372-82_9372-81insTGCAGATCCACTTACATGTAGATTTTCTTCCACCT (n.9372-82_9372-81insTGCAGATCCACTTACATGTAGATTTTCTTCCACCT)
| |
| 1 | g.215817277C>A | CA2650528392 | USH2A | c.9372-82G>T (n.9372-82G>T)
| gnomAD v4 |
| 1 | g.215817277_215817278del | CA2747722558 | USH2A | c.9372-83_9372-82del (n.9372-83_9372-82del)
| |
| 1 | g.215817277_215817280del | CA2747722559 | USH2A | c.9372-85_9372-82del (n.9372-85_9372-82del)
| |
| 1 | g.215817278A= | CA1220434404 | USH2A | c.9372-83T= (n.9372-83T=)
| |
| 1 | g.215817278A>C | CA528709817 | USH2A | c.9372-83T>G (n.9372-83T>G)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215817278A>G | CA2574002362 | USH2A | c.9372-83T>C (n.9372-83T>C)
| |
| 1 | g.215817278_215817283del | CA2747722560 | USH2A | c.9372-88_9372-83del (n.9372-88_9372-83del)
| |
| 1 | g.215817279A>C | CA2574002394 | USH2A | c.9372-84T>G (n.9372-84T>G)
| |
| 1 | g.215817279A>G | CA2747722561 | USH2A | c.9372-84T>C (n.9372-84T>C)
| |
| 1 | g.215817279_215817280insCT | CA2747722562 | USH2A | c.9372-85_9372-84insAG (n.9372-85_9372-84insAG)
| |
| 1 | g.215817280T>A | CA1220434406 | USH2A | c.9372-85A>T (n.9372-85A>T)
| dbSNP |
| 1 | g.215817280T>C | CA2747722563 | USH2A | c.9372-85A>G (n.9372-85A>G)
| |
| 1 | g.215817280T>G | CA2650528393 | USH2A | c.9372-85A>C (n.9372-85A>C)
| gnomAD v4 |
| 1 | g.215817280T= | CA1220434405 | USH2A | c.9372-85A= (n.9372-85A=)
| |
| 1 | g.215817281A>G | CA2747722564 | USH2A | c.9372-86T>C (n.9372-86T>C)
| |
| 1 | g.215817281dup | CA2747722565 | USH2A | c.9372-86dup (n.9372-86dup)
| |
| 1 | g.215817281_215817282insACAG | CA2747722568 | USH2A | c.9372-87_9372-86insCTGT (n.9372-87_9372-86insCTGT)
| |
| 1 | g.215817282G>C | CA2747722567 | USH2A | c.9372-87C>G (n.9372-87C>G)
| |
| 1 | g.215817282G>T | CA2574002432 | USH2A | c.9372-87C>A (n.9372-87C>A)
| gnomAD v4 |
| 1 | g.215817282_215817287del | CA2747722566 | USH2A | c.9372-92_9372-87del (n.9372-92_9372-87del)
| |
