| 1 | g.215648674_215648702del | CA3054205787 | USH2A | c.14409_14437del (p.Ile4803MetfsTer9)
| ClinVar |
| 1 | g.215648681_215648705del | CA2697554898 | USH2A | c.14407_14431del (p.Ile4803SerfsTer12)
| ClinVar dbSNP |
| 1 | g.215648681C>A | CA344833833 | USH2A | c.14429G>T (p.Cys4810Phe)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215648681C= | CA3077339270 | USH2A | c.14429G= (p.Cys4810=)
| dbSNP |
| 1 | g.215648681C>G | CA344833834 | USH2A | c.14429G>C (p.Cys4810Ser)
| |
| 1 | g.215648681C>T | CA344833836 | USH2A | c.14429G>A (p.Cys4810Tyr)
| dbSNP gnomAD v4 |
| 1 | g.215648682A= | CA3077339272 | USH2A | c.14428T= (p.Cys4810=)
| dbSNP |
| 1 | g.215648682A>C | CA344833840 | USH2A | c.14428T>G (p.Cys4810Gly)
| gnomAD v4 |
| 1 | g.215648682A>G | CA344833843 | USH2A | c.14428T>C (p.Cys4810Arg)
| dbSNP gnomAD v4 |
| 1 | g.215648682A>T | CA344833845 | USH2A | c.14428T>A (p.Cys4810Ser)
| |
| 1 | g.215648683G>A | CA423425663 | USH2A | c.14427C>T (p.Thr4809=)
| |
| 1 | g.215648683G>C | CA423425664 | USH2A | c.14427C>G (p.Thr4809=)
| |
| 1 | g.215648683G>T | CA423425665 | USH2A | c.14427C>A (p.Thr4809=)
| |
| 1 | g.215648684G>A | CA1393021 | USH2A | c.14426C>T (p.Thr4809Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215648684G>C | CA344833850 | USH2A | c.14426C>G (p.Thr4809Ser)
| dbSNP gnomAD v4 |
| 1 | g.215648684G= | CA1220363201 | USH2A | c.14426C= (p.Thr4809=)
| dbSNP |
| 1 | g.215648684G>T | CA344833848 | USH2A | c.14426C>A (p.Thr4809Asn)
| |
| 1 | g.215648685T>A | CA344833853 | USH2A | c.14425A>T (p.Thr4809Ser)
| |
| 1 | g.215648685T>C | CA344833855 | USH2A | c.14425A>G (p.Thr4809Ala)
| |
| 1 | g.215648685T>G | CA344833858 | USH2A | c.14425A>C (p.Thr4809Pro)
| |
| 1 | g.215648686G>A | CA423425666 | USH2A | c.14424C>T (p.Cys4808=)
| |
| 1 | g.215648686G>C | CA344833861 | USH2A | c.14424C>G (p.Cys4808Trp)
| dbSNP gnomAD v4 |
| 1 | g.215648686G= | CA1220363202 | USH2A | c.14424C= (p.Cys4808=)
| dbSNP |
| 1 | g.215648686G>T | CA344833863 | USH2A | c.14424C>A (p.Cys4808Ter)
| ClinVar dbSNP |
| 1 | g.215648687C>A | CA344833870 | USH2A | c.14423G>T (p.Cys4808Phe)
| gnomAD v4 |
| 1 | g.215648687C= | CA3077339275 | USH2A | c.14423G= (p.Cys4808=)
| dbSNP |
| 1 | g.215648687C>G | CA344833869 | USH2A | c.14423G>C (p.Cys4808Ser)
| |
| 1 | g.215648687C>T | CA344833866 | USH2A | c.14423G>A (p.Cys4808Tyr)
| ClinVar dbSNP |
| 1 | g.215648688A= | CA1220363203 | USH2A | c.14422T= (p.Cys4808=)
| dbSNP |
| 1 | g.215648688A>C | CA344833873 | USH2A | c.14422T>G (p.Cys4808Gly)
| ClinVar dbSNP |
| 1 | g.215648688A>G | CA344833875 | USH2A | c.14422T>C (p.Cys4808Arg)
| |
| 1 | g.215648688A>T | CA344833878 | USH2A | c.14422T>A (p.Cys4808Ser)
| |
| 1 | g.215648689G>A | CA423425669 | USH2A | c.14421C>T (p.Ala4807=)
| |
| 1 | g.215648689G>C | CA423425671 | USH2A | c.14421C>G (p.Ala4807=)
| |
| 1 | g.215648689G>T | CA423425673 | USH2A | c.14421C>A (p.Ala4807=)
| |
| 1 | g.215648689_215648702delinsGGCCTCTACTCCAA | CA1220363204 | USH2A | c.14408_14421delinsTTGGAGTAGAGGCC (p.Ile4803=)
| |
| 1 | g.215648690G>A | CA344833880 | USH2A | c.14420C>T (p.Ala4807Val)
| dbSNP gnomAD v4 |
| 1 | g.215648690G>C | CA344833882 | USH2A | c.14420C>G (p.Ala4807Gly)
| |
| 1 | g.215648690G= | CA3077339283 | USH2A | c.14420C= (p.Ala4807=)
| dbSNP |
| 1 | g.215648690G>T | CA344833884 | USH2A | c.14420C>A (p.Ala4807Asp)
| |
| 1 | g.215648690_215648702del | CA1012188225 | USH2A | c.14408_14420del (p.Ile4803ThrfsTer16)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215648690_215648703delinsTGA | CA2580617945 | USH2A | c.14407_14420delinsTCA (p.Ile4803SerfsTer15)
| ClinVar dbSNP |
| 1 | g.215648691C>A | CA344833887 | USH2A | c.14419G>T (p.Ala4807Ser)
| |
| 1 | g.215648691C= | CA1144798287 | USH2A | c.14419G= (p.Ala4807=)
| dbSNP |
| 1 | g.215648691C>G | CA344833889 | USH2A | c.14419G>C (p.Ala4807Pro)
| ClinVar |
| 1 | g.215648691C>T | CA246980 | USH2A | c.14419G>A (p.Ala4807Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 1 | g.215648692C>A | CA344833893 | USH2A | c.14418G>T (p.Glu4806Asp)
| |
| 1 | g.215648692C= | CA1220363205 | USH2A | c.14418G= (p.Glu4806=)
| dbSNP |
| 1 | g.215648692C>G | CA344833897 | USH2A | c.14418G>C (p.Glu4806Asp)
| |
| 1 | g.215648692C>T | CA423425677 | USH2A | c.14418G>A (p.Glu4806=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
