| 1 | g.215671258C>A | CA270143 | USH2A | c.13847G>T (p.Gly4616Val)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671258C= | CA1144233400 | USH2A | c.13847G= (p.Gly4616=)
| |
| 1 | g.215671258C>G | CA344841869 | USH2A | c.13847G>C (p.Gly4616Ala)
| |
| 1 | g.215671258C>T | CA344841872 | USH2A | c.13847G>A (p.Gly4616Glu)
| |
| 1 | g.215671258_215671260delinsCCC | CA1140592563 | USH2A | c.13845_13847delinsGGG (p.Leu4615=)
| |
| 1 | g.215671260dup | CA37410249 | USH2A | c.13847dup (p.Cys4617MetfsTer5)
| dbSNP |
| 1 | g.215671259C>A | CA344841876 | USH2A | c.13846G>T (p.Gly4616Ter)
| |
| 1 | g.215671259C>G | CA344841880 | USH2A | c.13846G>C (p.Gly4616Arg)
| |
| 1 | g.215671259C>T | CA344841882 | USH2A | c.13846G>A (p.Gly4616Arg)
| gnomAD v4 |
| 1 | g.215671260C>A | CA423426580 | USH2A | c.13845G>T (p.Leu4615=)
| |
| 1 | g.215671260C>G | CA423426581 | USH2A | c.13845G>C (p.Leu4615=)
| |
| 1 | g.215671260C>T | CA423426583 | USH2A | c.13845G>A (p.Leu4615=)
| gnomAD v4 |
| 1 | g.215671261A>C | CA344841883 | USH2A | c.13844T>G (p.Leu4615Arg)
| |
| 1 | g.215671261A>G | CA344841885 | USH2A | c.13844T>C (p.Leu4615Pro)
| |
| 1 | g.215671261A>T | CA344841887 | USH2A | c.13844T>A (p.Leu4615Gln)
| |
| 1 | g.215671262G>A | CA423426587 | USH2A | c.13843C>T (p.Leu4615=)
| |
| 1 | g.215671262G>C | CA344841889 | USH2A | c.13843C>G (p.Leu4615Val)
| |
| 1 | g.215671262G>T | CA344841892 | USH2A | c.13843C>A (p.Leu4615Met)
| |
| 1 | g.215671264del | CA423426586 | USH2A | c.13843del (p.Leu4615TrpfsTer19)
| gnomAD v4 |
| 1 | g.215671263G>A | CA423426589 | USH2A | c.13842C>T (p.Thr4614=)
| ClinVar |
| 1 | g.215671263G>C | CA423426590 | USH2A | c.13842C>G (p.Thr4614=)
| COSMIC |
| 1 | g.215671263G= | CA1220372214 | USH2A | c.13842C= (p.Thr4614=)
| |
| 1 | g.215671263G>T | CA1393187 | USH2A | c.13842C>A (p.Thr4614=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671264G>A | CA344841901 | USH2A | c.13841C>T (p.Thr4614Ile)
| |
| 1 | g.215671264G>C | CA344841903 | USH2A | c.13841C>G (p.Thr4614Ser)
| |
| 1 | g.215671264G>T | CA344841899 | USH2A | c.13841C>A (p.Thr4614Asn)
| gnomAD v4 |
| 1 | g.215671265T>A | CA344841905 | USH2A | c.13840A>T (p.Thr4614Ser)
| |
| 1 | g.215671265T>C | CA344841908 | USH2A | c.13840A>G (p.Thr4614Ala)
| gnomAD v4 |
| 1 | g.215671265T>G | CA344841909 | USH2A | c.13840A>C (p.Thr4614Pro)
| |
| 1 | g.215671266G>A | CA423426593 | USH2A | c.13839C>T (p.Thr4613=)
| |
| 1 | g.215671266G>C | CA423426594 | USH2A | c.13839C>G (p.Thr4613=)
| |
| 1 | g.215671266G>T | CA423426595 | USH2A | c.13839C>A (p.Thr4613=)
| |
| 1 | g.215671267G>A | CA344841913 | USH2A | c.13838C>T (p.Thr4613Ile)
| ClinVar dbSNP gnomAD v4 |
| 1 | g.215671267G>C | CA344841920 | USH2A | c.13838C>G (p.Thr4613Ser)
| |
| 1 | g.215671267G= | CA1220372215 | USH2A | c.13838C= (p.Thr4613=)
| |
| 1 | g.215671267G>T | CA344841923 | USH2A | c.13838C>A (p.Thr4613Asn)
| |
| 1 | g.215671268T>A | CA344841932 | USH2A | c.13837A>T (p.Thr4613Ser)
| |
| 1 | g.215671268T>C | CA344841927 | USH2A | c.13837A>G (p.Thr4613Ala)
| |
| 1 | g.215671268T>G | CA344841930 | USH2A | c.13837A>C (p.Thr4613Pro)
| |
| 1 | g.215671269G>A | CA423426601 | USH2A | c.13836C>T (p.Cys4612=)
| ClinVar dbSNP |
| 1 | g.215671269G>C | CA1393188 | USH2A | c.13836C>G (p.Cys4612Trp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.215671269G= | CA1220372216 | USH2A | c.13836C= (p.Cys4612=)
| |
| 1 | g.215671269G>T | CA344841936 | USH2A | c.13836C>A (p.Cys4612Ter)
| |
| 1 | g.215671270C>A | CA344841938 | USH2A | c.13835G>T (p.Cys4612Phe)
| |
| 1 | g.215671270C>G | CA344841941 | USH2A | c.13835G>C (p.Cys4612Ser)
| |
| 1 | g.215671270C>T | CA344841943 | USH2A | c.13835G>A (p.Cys4612Tyr)
| |
| 1 | g.215671271A>C | CA344841951 | USH2A | c.13834T>G (p.Cys4612Gly)
| |
| 1 | g.215671271A>G | CA344841947 | USH2A | c.13834T>C (p.Cys4612Arg)
| |
| 1 | g.215671271A>T | CA344841949 | USH2A | c.13834T>A (p.Cys4612Ser)
| |
| 1 | g.215671271dup | CA2740090310 | USH2A | c.13834dup (p.Cys4612LeufsTer10)
| ClinVar |
