1 | g.215782081C>A | CA423313213 | USH2A | c.10701G>T (p.Leu3567=)
| |
1 | g.215782081C>G | CA423313214 | USH2A | c.10701G>C (p.Leu3567=)
| |
1 | g.215782081C>T | CA423313215 | USH2A | c.10701G>A (p.Leu3567=)
| ClinVar |
1 | g.215782082A>C | CA344836305 | USH2A | c.10700T>G (p.Leu3567Arg)
| |
1 | g.215782082A>G | CA344836307 | USH2A | c.10700T>C (p.Leu3567Pro)
| |
1 | g.215782082A>T | CA344836310 | USH2A | c.10700T>A (p.Leu3567Gln)
| |
1 | g.215782082_215782083delinsAG | CA1220416684 | USH2A | c.10699_10700delinsCT (p.Leu3567=)
| |
1 | g.215782083del | CA916082115 | USH2A | c.10699del (p.Leu3567Ter)
| ClinVar dbSNP gnomAD v4 |
1 | g.215782083G>A | CA423313217 | USH2A | c.10699C>T (p.Leu3567=)
| |
1 | g.215782083G>C | CA344836312 | USH2A | c.10699C>G (p.Leu3567Val)
| |
1 | g.215782083G>T | CA344836315 | USH2A | c.10699C>A (p.Leu3567Met)
| |
1 | g.215782084C>A | CA344836318 | USH2A | c.10698G>T (p.Gln3566His)
| |
1 | g.215782084C>G | CA344836319 | USH2A | c.10698G>C (p.Gln3566His)
| |
1 | g.215782084C>T | CA423313219 | USH2A | c.10698G>A (p.Gln3566=)
| |
1 | g.215782085T>A | CA344836327 | USH2A | c.10697A>T (p.Gln3566Leu)
| |
1 | g.215782085T>C | CA344836321 | USH2A | c.10697A>G (p.Gln3566Arg)
| |
1 | g.215782085T>G | CA344836325 | USH2A | c.10697A>C (p.Gln3566Pro)
| |
1 | g.215782086G>A | CA344836335 | USH2A | c.10696C>T (p.Gln3566Ter)
| COSMIC COSMIC |
1 | g.215782086G>C | CA344836344 | USH2A | c.10696C>G (p.Gln3566Glu)
| |
1 | g.215782086G>T | CA344836349 | USH2A | c.10696C>A (p.Gln3566Lys)
| |
1 | g.215782087A>C | CA344836352 | USH2A | c.10695T>G (p.Tyr3565Ter)
| |
1 | g.215782087A>G | CA423313221 | USH2A | c.10695T>C (p.Tyr3565=)
| |
1 | g.215782087A>T | CA344836354 | USH2A | c.10695T>A (p.Tyr3565Ter)
| |
1 | g.215782088T>A | CA344836358 | USH2A | c.10694A>T (p.Tyr3565Phe)
| |
1 | g.215782088T>C | CA344836365 | USH2A | c.10694A>G (p.Tyr3565Cys)
| gnomAD v4 |
1 | g.215782088T>G | CA344836361 | USH2A | c.10694A>C (p.Tyr3565Ser)
| |
1 | g.215782089A= | CA1220416691 | USH2A | c.10693T= (p.Tyr3565=)
| |
1 | g.215782089A>C | CA344836369 | USH2A | c.10693T>G (p.Tyr3565Asp)
| |
1 | g.215782089A>G | CA344836370 | USH2A | c.10693T>C (p.Tyr3565His)
| ClinVar dbSNP |
1 | g.215782089A>T | CA344836372 | USH2A | c.10693T>A (p.Tyr3565Asn)
| |
1 | g.215782091_215782094dup | CA2573131578 | USH2A | c.10690_10693dup (p.Tyr3565PhefsTer16)
| ClinVar dbSNP |
1 | g.215782090T>A | CA423313225 | USH2A | c.10692A>T (p.Ser3564=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215782090T>C | CA423313226 | USH2A | c.10692A>G (p.Ser3564=)
| ClinVar dbSNP gnomAD v4 |
1 | g.215782090T>G | CA423313227 | USH2A | c.10692A>C (p.Ser3564=)
| |
1 | g.215782090T= | CA1220416695 | USH2A | c.10692A= (p.Ser3564=)
| |
1 | g.215782091G>A | CA344836376 | USH2A | c.10691C>T (p.Ser3564Leu)
| |
1 | g.215782091G>C | CA344836380 | USH2A | c.10691C>G (p.Ser3564Ter)
| ClinVar |
1 | g.215782091G>T | CA344836387 | USH2A | c.10691C>A (p.Ser3564Ter)
| |
1 | g.215782092A>C | CA344836391 | USH2A | c.10690T>G (p.Ser3564Ala)
| |
1 | g.215782092A>G | CA344836394 | USH2A | c.10690T>C (p.Ser3564Pro)
| gnomAD v4 |
1 | g.215782092A>T | CA344836397 | USH2A | c.10690T>A (p.Ser3564Thr)
| |
1 | g.215782093A>C | CA344836400 | USH2A | c.10689T>G (p.Tyr3563Ter)
| |
1 | g.215782093A>G | CA423313229 | USH2A | c.10689T>C (p.Tyr3563=)
| ClinVar |
1 | g.215782093A>T | CA344836404 | USH2A | c.10689T>A (p.Tyr3563Ter)
| ClinVar |
1 | g.215782094T>A | CA344836409 | USH2A | c.10688A>T (p.Tyr3563Phe)
| |
1 | g.215782094T>C | CA344836415 | USH2A | c.10688A>G (p.Tyr3563Cys)
| |
1 | g.215782094T>G | CA344836412 | USH2A | c.10688A>C (p.Tyr3563Ser)
| |
1 | g.215782095A= | CA1220416698 | USH2A | c.10687T= (p.Tyr3563=)
| |
1 | g.215782095A>C | CA344836420 | USH2A | c.10687T>G (p.Tyr3563Asp)
| |
1 | g.215782095A>G | CA1393956 | USH2A | c.10687T>C (p.Tyr3563His)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |