| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA | CA1220426216 | USH2A | c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG (p.Ile3263=) | |
| 1 | g.215799062_215799082del | CA529002276 | USH2A | c.9788_9808del (p.Ile3263_Gly3269del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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=) |