1 | g.215759658_215759659delinsTT | CA645522757 | USH2A | c.11231+1_11231+2delinsAA (n.11231+1_11231+2delinsAA)
| COSMIC COSMIC |
1 | g.215759659C>A | CA262067 | USH2A | c.11231+1G>T (n.11231+1G>T)
| ClinVar dbSNP gnomAD v4 |
1 | g.215759659C= | CA1141189270 | USH2A | c.11231+1G= (n.11231+1G=)
| |
1 | g.215759659C>G | CA344822368 | USH2A | c.11231+1G>C (n.11231+1G>C)
| ClinVar dbSNP |
1 | g.215759659C>T | CA10575437 | USH2A | c.11231+1G>A (n.11231+1G>A)
| ClinVar dbSNP |
1 | g.215759660C>A | CA344822369 | USH2A | c.11231G>T (p.Arg3744Ile)
| COSMIC COSMIC |
1 | g.215759660C>G | CA344822370 | USH2A | c.11231G>C (p.Arg3744Thr)
| |
1 | g.215759660C>T | CA344822372 | USH2A | c.11231G>A (p.Arg3744Lys)
| gnomAD v4 |
1 | g.215759661T>A | CA344822373 | USH2A | c.11230A>T (p.Arg3744Ter)
| |
1 | g.215759661T>C | CA344822374 | USH2A | c.11230A>G (p.Arg3744Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215759661T>G | CA423310351 | USH2A | c.11230A>C (p.Arg3744=)
| |
1 | g.215759661T= | CA1220412323 | USH2A | c.11230A= (p.Arg3744=)
| |
1 | g.215759662G>A | CA423310352 | USH2A | c.11229C>T (p.Ser3743=)
| |
1 | g.215759662G>C | CA344822376 | USH2A | c.11229C>G (p.Ser3743Arg)
| gnomAD v4 |
1 | g.215759662G>T | CA344822377 | USH2A | c.11229C>A (p.Ser3743Arg)
| |
1 | g.215759663C>A | CA344822383 | USH2A | c.11228G>T (p.Ser3743Ile)
| |
1 | g.215759663C= | CA1141301157 | USH2A | c.11228G= (p.Ser3743=)
| |
1 | g.215759663C>G | CA344822382 | USH2A | c.11228G>C (p.Ser3743Thr)
| gnomAD v4 |
1 | g.215759663C>T | CA37425959 | USH2A | c.11228G>A (p.Ser3743Asn)
| ClinVar dbSNP gnomAD v4 |
1 | g.215759664T>A | CA344822386 | USH2A | c.11227A>T (p.Ser3743Cys)
| |
1 | g.215759664T>C | CA344822387 | USH2A | c.11227A>G (p.Ser3743Gly)
| gnomAD v4 |
1 | g.215759664T>G | CA344822388 | USH2A | c.11227A>C (p.Ser3743Arg)
| |
1 | g.215759665A>C | CA344822390 | USH2A | c.11226T>G (p.Asn3742Lys)
| |
1 | g.215759665A>G | CA423310356 | USH2A | c.11226T>C (p.Asn3742=)
| ClinVar gnomAD v4 |
1 | g.215759665A>T | CA344822391 | USH2A | c.11226T>A (p.Asn3742Lys)
| |
1 | g.215759666T>A | CA344822399 | USH2A | c.11225A>T (p.Asn3742Ile)
| gnomAD v4 |
1 | g.215759666T>C | CA143249 | USH2A | c.11225A>G (p.Asn3742Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215759666T>G | CA344822395 | USH2A | c.11225A>C (p.Asn3742Thr)
| |
1 | g.215759666T= | CA1141710500 | USH2A | c.11225A= (p.Asn3742=)
| |
1 | g.215759667T>A | CA344822403 | USH2A | c.11224A>T (p.Asn3742Tyr)
| |
1 | g.215759667T>C | CA344822405 | USH2A | c.11224A>G (p.Asn3742Asp)
| |
1 | g.215759667T>G | CA344822407 | USH2A | c.11224A>C (p.Asn3742His)
| dbSNP |
1 | g.215759667T= | CA1220412325 | USH2A | c.11224A= (p.Asn3742=)
| |
1 | g.215759667_215759675delinsTGGGCTCCA | CA1220412324 | USH2A | c.11216_11224delinsTGGAGCCCA (p.Leu3739=)
| |
1 | g.215759668G>A | CA423310363 | USH2A | c.11223C>T (p.Pro3741=)
| |
1 | g.215759668G>C | CA423310364 | USH2A | c.11223C>G (p.Pro3741=)
| |
1 | g.215759668G>T | CA423310365 | USH2A | c.11223C>A (p.Pro3741=)
| |
1 | g.215759670_215759677del | CA915942015 | USH2A | c.11216_11223del (p.Leu3739GlnfsTer2)
| ClinVar dbSNP |
1 | g.215759669G>A | CA344822408 | USH2A | c.11222C>T (p.Pro3741Leu)
| |
1 | g.215759669G>C | CA344822410 | USH2A | c.11222C>G (p.Pro3741Arg)
| |
1 | g.215759669G>T | CA344822412 | USH2A | c.11222C>A (p.Pro3741His)
| |
1 | g.215759670G>A | CA344822416 | USH2A | c.11221C>T (p.Pro3741Ser)
| dbSNP |
1 | g.215759670G>C | CA344822420 | USH2A | c.11221C>G (p.Pro3741Ala)
| |
1 | g.215759670G= | CA1220412326 | USH2A | c.11221C= (p.Pro3741=)
| |
1 | g.215759670G>T | CA344822418 | USH2A | c.11221C>A (p.Pro3741Thr)
| |
1 | g.215759671C>A | CA344822423 | USH2A | c.11220G>T (p.Glu3740Asp)
| dbSNP gnomAD v4 |
1 | g.215759671C= | CA1220412327 | USH2A | c.11220G= (p.Glu3740=)
| |
1 | g.215759671C>G | CA344822425 | USH2A | c.11220G>C (p.Glu3740Asp)
| |
1 | g.215759671C>T | CA423310370 | USH2A | c.11220G>A (p.Glu3740=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215759672T>A | CA344822428 | USH2A | c.11219A>T (p.Glu3740Val)
| gnomAD v4 |