| 1 | g.215799021A>C | CA344849228 | USH2A | c.9844T>G (p.Cys3282Gly)
| |
| 1 | g.215799021A>G | CA344849222 | USH2A | c.9844T>C (p.Cys3282Arg)
| |
| 1 | g.215799021A>T | CA344849217 | USH2A | c.9844T>A (p.Cys3282Ser)
| |
| 1 | g.215799022G>A | CA423430320 | USH2A | c.9843C>T (p.Cys3281=)
| |
| 1 | g.215799022G>C | CA344849241 | USH2A | c.9843C>G (p.Cys3281Trp)
| |
| 1 | g.215799022G>T | CA344849232 | USH2A | c.9843C>A (p.Cys3281Ter)
| |
| 1 | g.215799023C>A | CA183787 | USH2A | c.9842G>T (p.Cys3281Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799023C= | CA1148224976 | USH2A | c.9842G= (p.Cys3281=)
| |
| 1 | g.215799023C>G | CA344849247 | USH2A | c.9842G>C (p.Cys3281Ser)
| |
| 1 | g.215799023C>T | CA344849269 | USH2A | c.9842G>A (p.Cys3281Tyr)
| |
| 1 | g.215799024A>C | CA344849274 | USH2A | c.9841T>G (p.Cys3281Gly)
| |
| 1 | g.215799024A>G | CA344849280 | USH2A | c.9841T>C (p.Cys3281Arg)
| |
| 1 | g.215799024A>T | CA344849284 | USH2A | c.9841T>A (p.Cys3281Ser)
| |
| 1 | g.215799025A>C | CA344849289 | USH2A | c.9840T>G (p.Ile3280Met)
| gnomAD v4 COSMIC COSMIC |
| 1 | g.215799025A>G | CA423430323 | USH2A | c.9840T>C (p.Ile3280=)
| |
| 1 | g.215799025A>T | CA423430324 | USH2A | c.9840T>A (p.Ile3280=)
| |
| 1 | g.215799026A>C | CA344849294 | USH2A | c.9839T>G (p.Ile3280Ser)
| |
| 1 | g.215799026A>G | CA344849299 | USH2A | c.9839T>C (p.Ile3280Thr)
| |
| 1 | g.215799026A>T | CA344849303 | USH2A | c.9839T>A (p.Ile3280Asn)
| |
| 1 | g.215799027T>A | CA344849307 | USH2A | c.9838A>T (p.Ile3280Phe)
| |
| 1 | g.215799027T>C | CA344849315 | USH2A | c.9838A>G (p.Ile3280Val)
| |
| 1 | g.215799027T>G | CA344849319 | USH2A | c.9838A>C (p.Ile3280Leu)
| |
| 1 | g.215799028C>A | CA344849324 | USH2A | c.9837G>T (p.Gln3279His)
| |
| 1 | g.215799028C>G | CA344849327 | USH2A | c.9837G>C (p.Gln3279His)
| |
| 1 | g.215799028C>T | CA423430327 | USH2A | c.9837G>A (p.Gln3279=)
| |
| 1 | g.215799029T>A | CA344849348 | USH2A | c.9836A>T (p.Gln3279Leu)
| |
| 1 | g.215799029T>C | CA344849339 | USH2A | c.9836A>G (p.Gln3279Arg)
| dbSNP |
| 1 | g.215799029T>G | CA344849342 | USH2A | c.9836A>C (p.Gln3279Pro)
| |
| 1 | g.215799029T= | CA1220426144 | USH2A | c.9836A= (p.Gln3279=)
| |
| 1 | g.215799030G>A | CA344849352 | USH2A | c.9835C>T (p.Gln3279Ter)
| |
| 1 | g.215799030G>C | CA344849355 | USH2A | c.9835C>G (p.Gln3279Glu)
| |
| 1 | g.215799030G>T | CA344849359 | USH2A | c.9835C>A (p.Gln3279Lys)
| gnomAD v4 |
| 1 | g.215799031G>A | CA423430329 | USH2A | c.9834C>T (p.Asn3278=)
| dbSNP |
| 1 | g.215799031G>C | CA344849363 | USH2A | c.9834C>G (p.Asn3278Lys)
| |
| 1 | g.215799031G= | CA1220426153 | USH2A | c.9834C= (p.Asn3278=)
| |
| 1 | g.215799031G>T | CA37448586 | USH2A | c.9834C>A (p.Asn3278Lys)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799032T>A | CA344849370 | USH2A | c.9833A>T (p.Asn3278Ile)
| |
| 1 | g.215799032T>C | CA344849371 | USH2A | c.9833A>G (p.Asn3278Ser)
| gnomAD v4 |
| 1 | g.215799032T>G | CA344849373 | USH2A | c.9833A>C (p.Asn3278Thr)
| |
| 1 | g.215799034del | CA2739275631 | USH2A | c.9833del (p.Asn3278ThrfsTer23)
| ClinVar |
| 1 | g.215799033T>A | CA344849375 | USH2A | c.9832A>T (p.Asn3278Tyr)
| |
| 1 | g.215799033T>C | CA344849377 | USH2A | c.9832A>G (p.Asn3278Asp)
| |
| 1 | g.215799033T>G | CA344849378 | USH2A | c.9832A>C (p.Asn3278His)
| |
| 1 | g.215799034T>A | CA423430334 | USH2A | c.9831A>T (p.Gly3277=)
| |
| 1 | g.215799034T>C | CA423430333 | USH2A | c.9831A>G (p.Gly3277=)
| |
| 1 | g.215799034T>G | CA423430332 | USH2A | c.9831A>C (p.Gly3277=)
| |
| 1 | g.215799035C>A | CA344849394 | USH2A | c.9830G>T (p.Gly3277Val)
| |
| 1 | g.215799035C>G | CA344849395 | USH2A | c.9830G>C (p.Gly3277Ala)
| |
| 1 | g.215799035C>T | CA344849392 | USH2A | c.9830G>A (p.Gly3277Glu)
| |
| 1 | g.215799036C>A | CA344849396 | USH2A | c.9829G>T (p.Gly3277Ter)
| |
| 1 | g.215799036C= | CA1220426157 | USH2A | c.9829G= (p.Gly3277=)
| |
| 1 | g.215799036C>G | CA344849397 | USH2A | c.9829G>C (p.Gly3277Arg)
| |
| 1 | g.215799036C>T | CA1394197 | USH2A | c.9829G>A (p.Gly3277Arg)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799037T>A | CA423430336 | USH2A | c.9828A>T (p.Ser3276=)
| |
| 1 | g.215799037T>C | CA423430337 | USH2A | c.9828A>G (p.Ser3276=)
| |
| 1 | g.215799037T>G | CA423430338 | USH2A | c.9828A>C (p.Ser3276=)
| |
| 1 | g.215799038G>A | CA344849412 | USH2A | c.9827C>T (p.Ser3276Leu)
| |
| 1 | g.215799038G>C | CA279037 | USH2A | c.9827C>G (p.Ser3276Ter)
| ClinVar dbSNP |
| 1 | g.215799038G= | CA1220426164 | USH2A | c.9827C= (p.Ser3276=)
| |
| 1 | g.215799038G>T | CA344849421 | USH2A | c.9827C>A (p.Ser3276Ter)
| ClinVar dbSNP |
| 1 | g.215799039A>C | CA344849425 | USH2A | c.9826T>G (p.Ser3276Ala)
| |
| 1 | g.215799039A>G | CA344849429 | USH2A | c.9826T>C (p.Ser3276Pro)
| |
| 1 | g.215799039A>T | CA344849430 | USH2A | c.9826T>A (p.Ser3276Thr)
| |
| 1 | g.215799040G>A | CA423430342 | USH2A | c.9825C>T (p.Thr3275=)
| dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799040G>C | CA423430343 | USH2A | c.9825C>G (p.Thr3275=)
| |
| 1 | g.215799040G= | CA1220426168 | USH2A | c.9825C= (p.Thr3275=)
| |
| 1 | g.215799040G>T | CA423430344 | USH2A | c.9825C>A (p.Thr3275=)
| |
| 1 | g.215799041G>A | CA344849431 | USH2A | c.9824C>T (p.Thr3275Ile)
| |
| 1 | g.215799041G>C | CA344849432 | USH2A | c.9824C>G (p.Thr3275Ser)
| |
| 1 | g.215799041G>T | CA344849435 | USH2A | c.9824C>A (p.Thr3275Asn)
| |
| 1 | g.215799042T>A | CA344849440 | USH2A | c.9823A>T (p.Thr3275Ser)
| dbSNP |
| 1 | g.215799042T>C | CA344849444 | USH2A | c.9823A>G (p.Thr3275Ala)
| |
| 1 | g.215799042T>G | CA344849438 | USH2A | c.9823A>C (p.Thr3275Pro)
| |
| 1 | g.215799042T= | CA1220426171 | USH2A | c.9823A= (p.Thr3275=)
| |
| 1 | g.215799043G>A | CA423430352 | USH2A | c.9822C>T (p.Ser3274=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799043G>C | CA423430353 | USH2A | c.9822C>G (p.Ser3274=)
| |
| 1 | g.215799043G= | CA1220426174 | USH2A | c.9822C= (p.Ser3274=)
| |
| 1 | g.215799043G>T | CA423430354 | USH2A | c.9822C>A (p.Ser3274=)
| dbSNP |
| 1 | g.215799044G>A | CA344849450 | USH2A | c.9821C>T (p.Ser3274Phe)
| |
| 1 | g.215799044G>C | CA344849453 | USH2A | c.9821C>G (p.Ser3274Cys)
| |
| 1 | g.215799044G>T | CA344849456 | USH2A | c.9821C>A (p.Ser3274Tyr)
| COSMIC COSMIC |
| 1 | g.215799045A= | CA1220426180 | USH2A | c.9820T= (p.Ser3274=)
| |
| 1 | g.215799045A>C | CA344849463 | USH2A | c.9820T>G (p.Ser3274Ala)
| |
| 1 | g.215799045A>G | CA344849469 | USH2A | c.9820T>C (p.Ser3274Pro)
| |
| 1 | g.215799045A>T | CA344849471 | USH2A | c.9820T>A (p.Ser3274Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799046G>A | CA423430355 | USH2A | c.9819C>T (p.Tyr3273=)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799046G>C | CA344849484 | USH2A | c.9819C>G (p.Tyr3273Ter)
| |
| 1 | g.215799046G= | CA1220426184 | USH2A | c.9819C= (p.Tyr3273=)
| |
| 1 | g.215799046G>T | CA344849488 | USH2A | c.9819C>A (p.Tyr3273Ter)
| |
| 1 | g.215799047_215799051del | CA2650503220 | USH2A | c.9815_9819del (p.Pro3272LeufsTer15)
| gnomAD v4 |
| 1 | g.215799047T>A | CA344849496 | USH2A | c.9818A>T (p.Tyr3273Phe)
| |
| 1 | g.215799047T>C | CA344849498 | USH2A | c.9818A>G (p.Tyr3273Cys)
| COSMIC COSMIC |
| 1 | g.215799047T>G | CA344849501 | USH2A | c.9818A>C (p.Tyr3273Ser)
| dbSNP |
| 1 | g.215799047T= | CA1220426185 | USH2A | c.9818A= (p.Tyr3273=)
| |
| 1 | g.215799048A= | CA1220426187 | USH2A | c.9817T= (p.Tyr3273=)
| |
| 1 | g.215799048A>C | CA344849504 | USH2A | c.9817T>G (p.Tyr3273Asp)
| |
| 1 | g.215799048A>G | CA344849509 | USH2A | c.9817T>C (p.Tyr3273His)
| dbSNP |
| 1 | g.215799048A>T | CA344849519 | USH2A | c.9817T>A (p.Tyr3273Asn)
| |
| 1 | g.215799049C>A | CA423430357 | USH2A | c.9816G>T (p.Pro3272=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799049C= | CA1148245711 | USH2A | c.9816G= (p.Pro3272=)
| |
| 1 | g.215799049C>G | CA423430356 | USH2A | c.9816G>C (p.Pro3272=)
| |
| 1 | g.215799049C>T | CA1394198 | USH2A | c.9816G>A (p.Pro3272=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799050G>A | CA1394199 | USH2A | c.9815C>T (p.Pro3272Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799050G>C | CA344849526 | USH2A | c.9815C>G (p.Pro3272Arg)
| |
| 1 | g.215799050G= | CA1220426198 | USH2A | c.9815C= (p.Pro3272=)
| |
| 1 | g.215799050G>T | CA344849531 | USH2A | c.9815C>A (p.Pro3272Gln)
| COSMIC COSMIC |
| 1 | g.215799051G>A | CA344849536 | USH2A | c.9814C>T (p.Pro3272Ser)
| ClinVar dbSNP gnomAD v2 |
| 1 | g.215799051G>C | CA344849540 | USH2A | c.9814C>G (p.Pro3272Ala)
| dbSNP gnomAD v4 |
| 1 | g.215799051G= | CA1220426202 | USH2A | c.9814C= (p.Pro3272=)
| |
| 1 | g.215799051G>T | CA344849551 | USH2A | c.9814C>A (p.Pro3272Thr)
| |
| 1 | g.215799052C>A | CA344849553 | USH2A | c.9813G>T (p.Met3271Ile)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799052C= | CA1141582254 | USH2A | c.9813G= (p.Met3271=)
| |
| 1 | g.215799052C>G | CA344849555 | USH2A | c.9813G>C (p.Met3271Ile)
| |
| 1 | g.215799052C>T | CA1394200 | USH2A | c.9813G>A (p.Met3271Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799053A>C | CA344849564 | USH2A | c.9812T>G (p.Met3271Arg)
| |
| 1 | g.215799053A>G | CA344849565 | USH2A | c.9812T>C (p.Met3271Thr)
| |
| 1 | g.215799053A>T | CA344849567 | USH2A | c.9812T>A (p.Met3271Lys)
| |
| 1 | g.215799053_215799054delinsAT | CA1220426207 | USH2A | c.9811_9812delinsAT (p.Met3271=)
| |
| 1 | g.215799054T>A | CA344849573 | USH2A | c.9811A>T (p.Met3271Leu)
| |
| 1 | g.215799054T>C | CA344849576 | USH2A | c.9811A>G (p.Met3271Val)
| gnomAD v4 |
| 1 | g.215799054T>G | CA344849579 | USH2A | c.9811A>C (p.Met3271Leu)
| dbSNP |
| 1 | g.215799054T= | CA1220426209 | USH2A | c.9811A= (p.Met3271=)
| |
| 1 | g.215799055del | CA1394201 | USH2A | c.9811del (p.Met3271CysfsTer30)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799055T>A | CA344849589 | USH2A | c.9810A>T (p.Arg3270Ser)
| |
| 1 | g.215799055T>C | CA423430358 | USH2A | c.9810A>G (p.Arg3270=)
| |
| 1 | g.215799055T>G | CA344849592 | USH2A | c.9810A>C (p.Arg3270Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799055T= | CA1220426212 | USH2A | c.9810A= (p.Arg3270=)
| |
| 1 | g.215799056C>A | CA344849593 | USH2A | c.9809G>T (p.Arg3270Ile)
| |
| 1 | g.215799056C= | CA1220426213 | USH2A | c.9809G= (p.Arg3270=)
| |
| 1 | g.215799056C>G | CA37448600 | USH2A | c.9809G>C (p.Arg3270Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799056C>T | CA344849594 | USH2A | c.9809G>A (p.Arg3270Lys)
| COSMIC COSMIC |
| 1 | g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA | CA1220426216 | USH2A | c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG (p.Ile3263=)
| |
| 1 | g.215799057T>A | CA344849597 | USH2A | c.9808A>T (p.Arg3270Ter)
| |
| 1 | g.215799057T>C | CA344849601 | USH2A | c.9808A>G (p.Arg3270Gly)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799057T>G | CA423430359 | USH2A | c.9808A>C (p.Arg3270=)
| |
| 1 | g.215799057T= | CA1220426221 | USH2A | c.9808A= (p.Arg3270=)
| |
| 1 | g.215799062_215799082del | CA529002276 | USH2A | c.9788_9808del (p.Ile3263_Gly3269del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799058G>A | CA423430360 | USH2A | c.9807C>T (p.Gly3269=)
| gnomAD v4 |
| 1 | g.215799058G>C | CA423430361 | USH2A | c.9807C>G (p.Gly3269=)
| |
| 1 | g.215799058G>T | CA423430362 | USH2A | c.9807C>A (p.Gly3269=)
| |
| 1 | g.215799059C>A | CA344849606 | USH2A | c.9806G>T (p.Gly3269Val)
| |
| 1 | g.215799059C= | CA1220426225 | USH2A | c.9806G= (p.Gly3269=)
| |
| 1 | g.215799059C>G | CA344849610 | USH2A | c.9806G>C (p.Gly3269Ala)
| |
| 1 | g.215799059C>T | CA1394202 | USH2A | c.9806G>A (p.Gly3269Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799060C>A | CA344849623 | USH2A | c.9805G>T (p.Gly3269Cys)
| |
| 1 | g.215799060C>G | CA344849625 | USH2A | c.9805G>C (p.Gly3269Arg)
| |
| 1 | g.215799060C>T | CA344849630 | USH2A | c.9805G>A (p.Gly3269Ser)
| |
| 1 | g.215799061A>C | CA344849644 | USH2A | c.9804T>G (p.Cys3268Trp)
| |
| 1 | g.215799061A>G | CA423430363 | USH2A | c.9804T>C (p.Cys3268=)
| ClinVar |
| 1 | g.215799061A>T | CA344849649 | USH2A | c.9804T>A (p.Cys3268Ter)
| |
| 1 | g.215799062C>A | CA344849656 | USH2A | c.9803G>T (p.Cys3268Phe)
| |
| 1 | g.215799062C= | CA1220426227 | USH2A | c.9803G= (p.Cys3268=)
| |
| 1 | g.215799062C>G | CA344849662 | USH2A | c.9803G>C (p.Cys3268Ser)
| |
| 1 | g.215799062C>T | CA344849659 | USH2A | c.9803G>A (p.Cys3268Tyr)
| ClinVar dbSNP |
| 1 | g.215799063A= | CA1220426229 | USH2A | c.9802T= (p.Cys3268=)
| |
| 1 | g.215799063A>C | CA344849667 | USH2A | c.9802T>G (p.Cys3268Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799063A>G | CA344849669 | USH2A | c.9802T>C (p.Cys3268Arg)
| |
| 1 | g.215799063A>T | CA344849673 | USH2A | c.9802T>A (p.Cys3268Ser)
| |
| 1 | g.215799064G>A | CA423430364 | USH2A | c.9801C>T (p.Cys3267=)
| |
| 1 | g.215799064G>C | CA344849682 | USH2A | c.9801C>G (p.Cys3267Trp)
| |
| 1 | g.215799064G>T | CA344849689 | USH2A | c.9801C>A (p.Cys3267Ter)
| |
| 1 | g.215799065C>A | CA344849700 | USH2A | c.9800G>T (p.Cys3267Phe)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799065C= | CA1220426230 | USH2A | c.9800G= (p.Cys3267=)
| |
| 1 | g.215799065C>G | CA344849698 | USH2A | c.9800G>C (p.Cys3267Ser)
| |
| 1 | g.215799065C>T | CA344849694 | USH2A | c.9800G>A (p.Cys3267Tyr)
| |
| 1 | g.215799066A= | CA1141189281 | USH2A | c.9799T= (p.Cys3267=)
| |
| 1 | g.215799066A>C | CA344849705 | USH2A | c.9799T>G (p.Cys3267Gly)
| |
| 1 | g.215799066A>G | CA262135 | USH2A | c.9799T>C (p.Cys3267Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799066A>T | CA344849710 | USH2A | c.9799T>A (p.Cys3267Ser)
| |
| 1 | g.215799067G>A | CA423430367 | USH2A | c.9798C>T (p.Ser3266=)
| ClinVar dbSNP |
| 1 | g.215799067G>C | CA423430365 | USH2A | c.9798C>G (p.Ser3266=)
| |
| 1 | g.215799067G>T | CA423430366 | USH2A | c.9798C>A (p.Ser3266=)
| |
| 1 | g.215799068G>A | CA344849714 | USH2A | c.9797C>T (p.Ser3266Phe)
| gnomAD v4 |
| 1 | g.215799068G>C | CA344849715 | USH2A | c.9797C>G (p.Ser3266Cys)
| |
| 1 | g.215799068G>T | CA344849719 | USH2A | c.9797C>A (p.Ser3266Tyr)
| |
| 1 | g.215799069A>C | CA344849725 | USH2A | c.9796T>G (p.Ser3266Ala)
| |
| 1 | g.215799069A>G | CA344849734 | USH2A | c.9796T>C (p.Ser3266Pro)
| |
| 1 | g.215799069A>T | CA344849729 | USH2A | c.9796T>A (p.Ser3266Thr)
| COSMIC COSMIC |
| 1 | g.215799070A>C | CA344849742 | USH2A | c.9795T>G (p.Asp3265Glu)
| |
| 1 | g.215799070A>G | CA423430368 | USH2A | c.9795T>C (p.Asp3265=)
| |
| 1 | g.215799070A>T | CA344849744 | USH2A | c.9795T>A (p.Asp3265Glu)
| |
| 1 | g.215799071T>A | CA344849747 | USH2A | c.9794A>T (p.Asp3265Val)
| |
| 1 | g.215799071T>C | CA344849748 | USH2A | c.9794A>G (p.Asp3265Gly)
| |
| 1 | g.215799071T>G | CA344849751 | USH2A | c.9794A>C (p.Asp3265Ala)
| |
| 1 | g.215799072C>A | CA344849755 | USH2A | c.9793G>T (p.Asp3265Tyr)
| |
| 1 | g.215799072C>G | CA344849757 | USH2A | c.9793G>C (p.Asp3265His)
| |
| 1 | g.215799072C>T | CA344849761 | USH2A | c.9793G>A (p.Asp3265Asn)
| gnomAD v4 |
| 1 | g.215799073A>C | CA423430371 | USH2A | c.9792T>G (p.Gly3264=)
| |
| 1 | g.215799073A>G | CA423430369 | USH2A | c.9792T>C (p.Gly3264=)
| |
| 1 | g.215799073A>T | CA423430370 | USH2A | c.9792T>A (p.Gly3264=)
| |
| 1 | g.215799074C>A | CA344849771 | USH2A | c.9791G>T (p.Gly3264Val)
| COSMIC |
| 1 | g.215799074C>G | CA344849772 | USH2A | c.9791G>C (p.Gly3264Ala)
| |
| 1 | g.215799074C>T | CA344849785 | USH2A | c.9791G>A (p.Gly3264Asp)
| |
| 1 | g.215799075del | CA2586968180 | USH2A | c.9791del (p.Gly3264ValfsTer?)
| |
| 1 | g.215799075C>A | CA344849801 | USH2A | c.9790G>T (p.Gly3264Cys)
| |
| 1 | g.215799075C>G | CA344849802 | USH2A | c.9790G>C (p.Gly3264Arg)
| |
| 1 | g.215799075C>T | CA344849800 | USH2A | c.9790G>A (p.Gly3264Ser)
| |
| 1 | g.215799076A>C | CA344849803 | USH2A | c.9789T>G (p.Ile3263Met)
| |
| 1 | g.215799076A>G | CA423430373 | USH2A | c.9789T>C (p.Ile3263=)
| |
| 1 | g.215799076A>T | CA423430372 | USH2A | c.9789T>A (p.Ile3263=)
| |
| 1 | g.215799077A= | CA1220426239 | USH2A | c.9788T= (p.Ile3263=)
| |
| 1 | g.215799077A>C | CA344849809 | USH2A | c.9788T>G (p.Ile3263Ser)
| |
| 1 | g.215799077A>G | CA37448603 | USH2A | c.9788T>C (p.Ile3263Thr)
| dbSNP gnomAD v4 |
| 1 | g.215799077A>T | CA344849812 | USH2A | c.9788T>A (p.Ile3263Asn)
| |
| 1 | g.215799078T>A | CA344849816 | USH2A | c.9787A>T (p.Ile3263Phe)
| |
| 1 | g.215799078T>C | CA37448628 | USH2A | c.9787A>G (p.Ile3263Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799078T>G | CA344849817 | USH2A | c.9787A>C (p.Ile3263Leu)
| |
| 1 | g.215799078T= | CA1220426240 | USH2A | c.9787A= (p.Ile3263=)
| |
| 1 | g.215799079G>A | CA423430374 | USH2A | c.9786C>T (p.Gly3262=)
| |
| 1 | g.215799079G>C | CA423430375 | USH2A | c.9786C>G (p.Gly3262=)
| |
| 1 | g.215799079G>T | CA423430376 | USH2A | c.9786C>A (p.Gly3262=)
| |
| 1 | g.215799080C>A | CA344849833 | USH2A | c.9785G>T (p.Gly3262Val)
| ClinVar dbSNP |
| 1 | g.215799080C= | CA1220426242 | USH2A | c.9785G= (p.Gly3262=)
| |
| 1 | g.215799080C>G | CA344849837 | USH2A | c.9785G>C (p.Gly3262Ala)
| |
| 1 | g.215799080C>T | CA344849841 | USH2A | c.9785G>A (p.Gly3262Asp)
| |
| 1 | g.215799081C>A | CA344849845 | USH2A | c.9784G>T (p.Gly3262Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799081C= | CA1220426247 | USH2A | c.9784G= (p.Gly3262=)
| |
| 1 | g.215799081C>G | CA344849847 | USH2A | c.9784G>C (p.Gly3262Arg)
| |
| 1 | g.215799081C>T | CA344849850 | USH2A | c.9784G>A (p.Gly3262Ser)
| |
| 1 | g.215799082A>C | CA423430378 | USH2A | c.9783T>G (p.Val3261=)
| |
| 1 | g.215799082A>G | CA423430379 | USH2A | c.9783T>C (p.Val3261=)
| |
| 1 | g.215799082A>T | CA423430382 | USH2A | c.9783T>A (p.Val3261=)
| |
| 1 | g.215799083A>C | CA344849855 | USH2A | c.9782T>G (p.Val3261Gly)
| |
| 1 | g.215799083A>G | CA344849864 | USH2A | c.9782T>C (p.Val3261Ala)
| gnomAD v4 |
| 1 | g.215799083A>T | CA344849868 | USH2A | c.9782T>A (p.Val3261Asp)
| |
| 1 | g.215799084C>A | CA344849873 | USH2A | c.9781G>T (p.Val3261Phe)
| |
| 1 | g.215799084C= | CA1220426251 | USH2A | c.9781G= (p.Val3261=)
| |
| 1 | g.215799084C>G | CA344849874 | USH2A | c.9781G>C (p.Val3261Leu)
| ClinVar dbSNP |
| 1 | g.215799084C>T | CA344849875 | USH2A | c.9781G>A (p.Val3261Ile)
| gnomAD v4 |
| 1 | g.215799085A>C | CA423430387 | USH2A | c.9780T>G (p.Ser3260=)
| |
| 1 | g.215799085A>G | CA423430388 | USH2A | c.9780T>C (p.Ser3260=)
| |
| 1 | g.215799085A>T | CA423430389 | USH2A | c.9780T>A (p.Ser3260=)
| |
| 1 | g.215799086G>A | CA344849889 | USH2A | c.9779C>T (p.Ser3260Phe)
| |
| 1 | g.215799086G>C | CA344849880 | USH2A | c.9779C>G (p.Ser3260Cys)
| |
| 1 | g.215799086G>T | CA344849887 | USH2A | c.9779C>A (p.Ser3260Tyr)
| |
| 1 | g.215799087A>C | CA344849893 | USH2A | c.9778T>G (p.Ser3260Ala)
| |
| 1 | g.215799087A>G | CA344849920 | USH2A | c.9778T>C (p.Ser3260Pro)
| |
| 1 | g.215799087A>T | CA344849921 | USH2A | c.9778T>A (p.Ser3260Thr)
| |
| 1 | g.215799088A>C | CA423430391 | USH2A | c.9777T>G (p.Val3259=)
| ClinVar dbSNP |
| 1 | g.215799088A>G | CA423430392 | USH2A | c.9777T>C (p.Val3259=)
| |
| 1 | g.215799088A>T | CA423430393 | USH2A | c.9777T>A (p.Val3259=)
| |
| 1 | g.215799089A>C | CA344849925 | USH2A | c.9776T>G (p.Val3259Gly)
| |
| 1 | g.215799089A>G | CA344849928 | USH2A | c.9776T>C (p.Val3259Ala)
| |
| 1 | g.215799089A>T | CA344849930 | USH2A | c.9776T>A (p.Val3259Asp)
| |
| 1 | g.215799090C>A | CA344849937 | USH2A | c.9775G>T (p.Val3259Phe)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799090C= | CA1220426253 | USH2A | c.9775G= (p.Val3259=)
| |
| 1 | g.215799090C>G | CA344849939 | USH2A | c.9775G>C (p.Val3259Leu)
| |
| 1 | g.215799090C>T | CA344849943 | USH2A | c.9775G>A (p.Val3259Ile)
| |
| 1 | g.215799090_215799091insT | CA2650503221 | USH2A | c.9774_9775insA (p.Val3259SerfsTer7)
| gnomAD v4 |
| 1 | g.215799091C>A | CA423430397 | USH2A | c.9774G>T (p.Arg3258=)
| COSMIC COSMIC |
| 1 | g.215799091C>G | CA423430398 | USH2A | c.9774G>C (p.Arg3258=)
| |
| 1 | g.215799091C>T | CA423430399 | USH2A | c.9774G>A (p.Arg3258=)
| gnomAD v4 |
| 1 | g.215799092C>A | CA344849951 | USH2A | c.9773G>T (p.Arg3258Leu)
| |
| 1 | g.215799092C= | CA1220426258 | USH2A | c.9773G= (p.Arg3258=)
| |
| 1 | g.215799092C>G | CA344849955 | USH2A | c.9773G>C (p.Arg3258Pro)
| |
| 1 | g.215799092C>T | CA1394203 | USH2A | c.9773G>A (p.Arg3258Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215799093G>A | CA1394204 | USH2A | c.9772C>T (p.Arg3258Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215799093G>C | CA344849966 | USH2A | c.9772C>G (p.Arg3258Gly)
| |
| 1 | g.215799093G= | CA1220426264 | USH2A | c.9772C= (p.Arg3258=)
| |
| 1 | g.215799093G>T | CA423430400 | USH2A | c.9772C>A (p.Arg3258=)
| ClinVar |
| 1 | g.215799094A= | CA1220426270 | USH2A | c.9771T= (p.Asn3257=)
| |
| 1 | g.215799094A>C | CA344849987 | USH2A | c.9771T>G (p.Asn3257Lys)
| |
| 1 | g.215799094A>G | CA1394205 | USH2A | c.9771T>C (p.Asn3257=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215799094A>T | CA344849993 | USH2A | c.9771T>A (p.Asn3257Lys)
| |
| 1 | g.215799095T>A | CA344850000 | USH2A | c.9770A>T (p.Asn3257Ile)
| |
| 1 | g.215799095T>C | CA1394206 | USH2A | c.9770A>G (p.Asn3257Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799095T>G | CA344850005 | USH2A | c.9770A>C (p.Asn3257Thr)
| |
| 1 | g.215799095T= | CA1220426271 | USH2A | c.9770A= (p.Asn3257=)
| |
| 1 | g.215799096dup | CA2586968183 | USH2A | c.9770dup (p.Asn3257LysfsTer9)
| |
| 1 | g.215799096T>A | CA344850010 | USH2A | c.9769A>T (p.Asn3257Tyr)
| |
| 1 | g.215799096T>C | CA344850008 | USH2A | c.9769A>G (p.Asn3257Asp)
| |
| 1 | g.215799096T>G | CA344850009 | USH2A | c.9769A>C (p.Asn3257His)
| |
| 1 | g.215799097G>A | CA423430408 | USH2A | c.9768C>T (p.His3256=)
| ClinVar |
| 1 | g.215799097G>C | CA344850012 | USH2A | c.9768C>G (p.His3256Gln)
| |
| 1 | g.215799097G>T | CA344850015 | USH2A | c.9768C>A (p.His3256Gln)
| |
| 1 | g.215799098T>A | CA344850020 | USH2A | c.9767A>T (p.His3256Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799098T>C | CA344850024 | USH2A | c.9767A>G (p.His3256Arg)
| |
| 1 | g.215799098T>G | CA344850028 | USH2A | c.9767A>C (p.His3256Pro)
| |
| 1 | g.215799098T= | CA1220426273 | USH2A | c.9767A= (p.His3256=)
| |
| 1 | g.215799099G>A | CA344850031 | USH2A | c.9766C>T (p.His3256Tyr)
| |
| 1 | g.215799099G>C | CA344850033 | USH2A | c.9766C>G (p.His3256Asp)
| |
| 1 | g.215799099G>T | CA344850032 | USH2A | c.9766C>A (p.His3256Asn)
| gnomAD v4 |
| 1 | g.215799100C>A | CA344850036 | USH2A | c.9765G>T (p.Gln3255His)
| |
| 1 | g.215799100C>G | CA344850041 | USH2A | c.9765G>C (p.Gln3255His)
| |
| 1 | g.215799100C>T | CA423430414 | USH2A | c.9765G>A (p.Gln3255=)
| |
| 1 | g.215799101T>A | CA344850052 | USH2A | c.9764A>T (p.Gln3255Leu)
| gnomAD v4 |
| 1 | g.215799101T>C | CA344850053 | USH2A | c.9764A>G (p.Gln3255Arg)
| gnomAD v4 |
| 1 | g.215799101T>G | CA344850060 | USH2A | c.9764A>C (p.Gln3255Pro)
| |
| 1 | g.215799102G>A | CA344850064 | USH2A | c.9763C>T (p.Gln3255Ter)
| ClinVar dbSNP |
| 1 | g.215799102G>C | CA344850067 | USH2A | c.9763C>G (p.Gln3255Glu)
| |
| 1 | g.215799102G= | CA1220426276 | USH2A | c.9763C= (p.Gln3255=)
| |
| 1 | g.215799102G>T | CA344850070 | USH2A | c.9763C>A (p.Gln3255Lys)
| |
| 1 | g.215799103T>A | CA344850075 | USH2A | c.9762A>T (p.Glu3254Asp)
| |
| 1 | g.215799103T>C | CA423430418 | USH2A | c.9762A>G (p.Glu3254=)
| COSMIC COSMIC |
| 1 | g.215799103T>G | CA344850078 | USH2A | c.9762A>C (p.Glu3254Asp)
| ClinVar |
| 1 | g.215799104T>A | CA344850092 | USH2A | c.9761A>T (p.Glu3254Val)
| |
| 1 | g.215799104T>C | CA344850088 | USH2A | c.9761A>G (p.Glu3254Gly)
| |
| 1 | g.215799104T>G | CA344850087 | USH2A | c.9761A>C (p.Glu3254Ala)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799104T= | CA1220426279 | USH2A | c.9761A= (p.Glu3254=)
| |
| 1 | g.215799105C>A | CA344850096 | USH2A | c.9760G>T (p.Glu3254Ter)
| gnomAD v4 |
| 1 | g.215799105C= | CA1220426282 | USH2A | c.9760G= (p.Glu3254=)
| |
| 1 | g.215799105C>G | CA344850100 | USH2A | c.9760G>C (p.Glu3254Gln)
| |
| 1 | g.215799105C>T | CA344850103 | USH2A | c.9760G>A (p.Glu3254Lys)
| dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215799106A>C | CA344850106 | USH2A | c.9759T>G (p.Asp3253Glu)
| |
| 1 | g.215799106A>G | CA423430425 | USH2A | c.9759T>C (p.Asp3253=)
| ClinVar dbSNP |
| 1 | g.215799106A>T | CA344850107 | USH2A | c.9759T>A (p.Asp3253Glu)
| |
| 1 | g.215799107T>A | CA344850113 | USH2A | c.9758A>T (p.Asp3253Val)
| |
| 1 | g.215799107T>C | CA344850111 | USH2A | c.9758A>G (p.Asp3253Gly)
| gnomAD v4 |
| 1 | g.215799107T>G | CA344850109 | USH2A | c.9758A>C (p.Asp3253Ala)
| |
| 1 | g.215799108C>A | CA344850117 | USH2A | c.9757G>T (p.Asp3253Tyr)
| |
| 1 | g.215799108C>G | CA344850120 | USH2A | c.9757G>C (p.Asp3253His)
| |
| 1 | g.215799108C>T | CA344850131 | USH2A | c.9757G>A (p.Asp3253Asn)
| |
| 1 | g.215799109T>A | CA423430427 | USH2A | c.9756A>T (p.Pro3252=)
| |
| 1 | g.215799109T>C | CA423430428 | USH2A | c.9756A>G (p.Pro3252=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799109T>G | CA423430429 | USH2A | c.9756A>C (p.Pro3252=)
| dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.215799109T= | CA1220426284 | USH2A | c.9756A= (p.Pro3252=)
| |
| 1 | g.215799110G>A | CA37448693 | USH2A | c.9755C>T (p.Pro3252Leu)
| dbSNP COSMIC COSMIC |
| 1 | g.215799110G>C | CA344850134 | USH2A | c.9755C>G (p.Pro3252Arg)
| |
| 1 | g.215799110G= | CA1220426285 | USH2A | c.9755C= (p.Pro3252=)
| |
| 1 | g.215799110G>T | CA344850136 | USH2A | c.9755C>A (p.Pro3252Gln)
| |
| 1 | g.215799111G>A | CA344850156 | USH2A | c.9754C>T (p.Pro3252Ser)
| COSMIC COSMIC |
| 1 | g.215799111G>C | CA344850140 | USH2A | c.9754C>G (p.Pro3252Ala)
| gnomAD v4 |
| 1 | g.215799111G>T | CA344850143 | USH2A | c.9754C>A (p.Pro3252Thr)
| |
| 1 | g.215799112A>C | CA344850159 | USH2A | c.9753T>G (p.Cys3251Trp)
| |
| 1 | g.215799112A>G | CA423430433 | USH2A | c.9753T>C (p.Cys3251=)
| |
| 1 | g.215799112A>T | CA344850163 | USH2A | c.9753T>A (p.Cys3251Ter)
| |
| 1 | g.215799113C>A | CA344850169 | USH2A | c.9752G>T (p.Cys3251Phe)
| |
| 1 | g.215799113C= | CA1220426286 | USH2A | c.9752G= (p.Cys3251=)
| |
| 1 | g.215799113C>G | CA344850175 | USH2A | c.9752G>C (p.Cys3251Ser)
| |
| 1 | g.215799113C>T | CA344850179 | USH2A | c.9752G>A (p.Cys3251Tyr)
| dbSNP gnomAD v4 |
| 1 | g.215799114A= | CA1144233500 | USH2A | c.9751T= (p.Cys3251=)
| |
| 1 | g.215799114A>C | CA344850182 | USH2A | c.9751T>G (p.Cys3251Gly)
| |
| 1 | g.215799114A>G | CA270162 | USH2A | c.9751T>C (p.Cys3251Arg)
| ClinVar dbSNP |
| 1 | g.215799114A>T | CA344850187 | USH2A | c.9751T>A (p.Cys3251Ser)
| |
| 1 | g.215799115G>A | CA423430438 | USH2A | c.9750C>T (p.Cys3250=)
| |
| 1 | g.215799115G>C | CA344850191 | USH2A | c.9750C>G (p.Cys3250Trp)
| |
| 1 | g.215799115G>T | CA344850196 | USH2A | c.9750C>A (p.Cys3250Ter)
| COSMIC COSMIC |
| 1 | g.215799116C>A | CA344850201 | USH2A | c.9749G>T (p.Cys3250Phe)
| |
| 1 | g.215799116C= | CA1141619040 | USH2A | c.9749G= (p.Cys3250=)
| |
| 1 | g.215799116C>G | CA344850204 | USH2A | c.9749G>C (p.Cys3250Ser)
| |
| 1 | g.215799116C>T | CA1394207 | USH2A | c.9749G>A (p.Cys3250Tyr)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215799117A>C | CA344850210 | USH2A | c.9748T>G (p.Cys3250Gly)
| gnomAD v4 |
| 1 | g.215799117A>G | CA344850215 | USH2A | c.9748T>C (p.Cys3250Arg)
| |
| 1 | g.215799117A>T | CA344850214 | USH2A | c.9748T>A (p.Cys3250Ser)
| |
| 1 | g.215799117_215799118insGAGAGAGTGAGAAAT | CA2566636248 | USH2A | c.9747_9748insATTTCTCACTCTCTC (p.Val3249_Cys3250insIleSerHisSerLeu)
| |
| 1 | g.215799118T>A | CA1394209 | USH2A | c.9747A>T (p.Val3249=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215799118T>C | CA1394208 | USH2A | c.9747A>G (p.Val3249=)
| ClinVar dbSNP ExAC gnomAD v4 |
| 1 | g.215799118T>G | CA423430445 | USH2A | c.9747A>C (p.Val3249=)
| |
| 1 | g.215799118T= | CA1220426293 | USH2A | c.9747A= (p.Val3249=)
| |
| 1 | g.215799119A>C | CA344850220 | USH2A | c.9746T>G (p.Val3249Gly)
| |
| 1 | g.215799119A>G | CA344850224 | USH2A | c.9746T>C (p.Val3249Ala)
| |
| 1 | g.215799119A>T | CA344850225 | USH2A | c.9746T>A (p.Val3249Glu)
| |
| 1 | g.215799120del | CA2574001307 | USH2A | c.9745del (p.Val3249TyrfsTer?)
| |
| 1 | g.215799120C>A | CA344850226 | USH2A | c.9745G>T (p.Val3249Leu)
| |
| 1 | g.215799120C= | CA1220426298 | USH2A | c.9745G= (p.Val3249=)
| |
| 1 | g.215799120C>G | CA344850227 | USH2A | c.9745G>C (p.Val3249Leu)
| ClinVar dbSNP |
| 1 | g.215799120C>T | CA344850231 | USH2A | c.9745G>A (p.Val3249Ile)
| gnomAD v4 |
| 1 | g.215799121T>A | CA344850233 | USH2A | c.9744A>T (p.Glu3248Asp)
| |
| 1 | g.215799121T>C | CA423430452 | USH2A | c.9744A>G (p.Glu3248=)
| ClinVar gnomAD v4 |
| 1 | g.215799121T>G | CA344850236 | USH2A | c.9744A>C (p.Glu3248Asp)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215799121T= | CA1220426301 | USH2A | c.9744A= (p.Glu3248=)
| |
