| 1 | g.215671158G>A | CA37410145 | USH2A | c.13947C>T (p.Phe4649=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671158G>C | CA344841096 | USH2A | c.13947C>G (p.Phe4649Leu)
| |
| 1 | g.215671158G= | CA1220372172 | USH2A | c.13947C= (p.Phe4649=)
| |
| 1 | g.215671158G>T | CA344841099 | USH2A | c.13947C>A (p.Phe4649Leu)
| |
| 1 | g.215671159A>C | CA344841102 | USH2A | c.13946T>G (p.Phe4649Cys)
| |
| 1 | g.215671159A>G | CA344841104 | USH2A | c.13946T>C (p.Phe4649Ser)
| |
| 1 | g.215671159A>T | CA344841108 | USH2A | c.13946T>A (p.Phe4649Tyr)
| |
| 1 | g.215671160A>C | CA344841118 | USH2A | c.13945T>G (p.Phe4649Val)
| |
| 1 | g.215671160A>G | CA344841111 | USH2A | c.13945T>C (p.Phe4649Leu)
| |
| 1 | g.215671160A>T | CA344841114 | USH2A | c.13945T>A (p.Phe4649Ile)
| |
| 1 | g.215671161T>A | CA423426421 | USH2A | c.13944A>T (p.Gly4648=)
| |
| 1 | g.215671161T>C | CA423426422 | USH2A | c.13944A>G (p.Gly4648=)
| |
| 1 | g.215671161T>G | CA423426423 | USH2A | c.13944A>C (p.Gly4648=)
| |
| 1 | g.215671161_215671163delinsTCC | CA1220372173 | USH2A | c.13942_13944delinsGGA (p.Gly4648=)
| |
| 1 | g.215671162C>A | CA344841121 | USH2A | c.13943G>T (p.Gly4648Val)
| COSMIC COSMIC |
| 1 | g.215671162C>G | CA344841125 | USH2A | c.13943G>C (p.Gly4648Ala)
| |
| 1 | g.215671162C>T | CA344841132 | USH2A | c.13943G>A (p.Gly4648Glu)
| COSMIC COSMIC |
| 1 | g.215671162_215671163delinsA | CA916082112 | USH2A | c.13942_13943delinsT (p.Gly4648TyrfsTer30)
| ClinVar dbSNP |
| 1 | g.215671163del | CA529002011 | USH2A | c.13943del (p.Gly4648AspfsTer30)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671163C>A | CA344841138 | USH2A | c.13942G>T (p.Gly4648Ter)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671163C= | CA1220372174 | USH2A | c.13942G= (p.Gly4648=)
| |
| 1 | g.215671163C>G | CA344841140 | USH2A | c.13942G>C (p.Gly4648Arg)
| COSMIC COSMIC |
| 1 | g.215671163C>T | CA344841143 | USH2A | c.13942G>A (p.Gly4648Arg)
| gnomAD v4 |
| 1 | g.215671164T>A | CA423426427 | USH2A | c.13941A>T (p.Gly4647=)
| |
| 1 | g.215671164T>C | CA423426428 | USH2A | c.13941A>G (p.Gly4647=)
| |
| 1 | g.215671164T>G | CA423426429 | USH2A | c.13941A>C (p.Gly4647=)
| |
| 1 | g.215671165C>A | CA344841146 | USH2A | c.13940G>T (p.Gly4647Val)
| |
| 1 | g.215671165C= | CA1220372175 | USH2A | c.13940G= (p.Gly4647=)
| |
| 1 | g.215671165C>G | CA344841148 | USH2A | c.13940G>C (p.Gly4647Ala)
| |
| 1 | g.215671165C>T | CA344841152 | USH2A | c.13940G>A (p.Gly4647Glu)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.215671166C>A | CA344841159 | USH2A | c.13939G>T (p.Gly4647Ter)
| |
| 1 | g.215671166C= | CA1141997102 | USH2A | c.13939G= (p.Gly4647=)
| |
| 1 | g.215671166C>G | CA1393175 | USH2A | c.13939G>C (p.Gly4647Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671166C>T | CA344841164 | USH2A | c.13939G>A (p.Gly4647Arg)
| gnomAD v4 |
| 1 | g.215671167T>A | CA423426431 | USH2A | c.13938A>T (p.Pro4646=)
| |
| 1 | g.215671167T>C | CA423426432 | USH2A | c.13938A>G (p.Pro4646=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671167T>G | CA423426433 | USH2A | c.13938A>C (p.Pro4646=)
| |
| 1 | g.215671167T= | CA1220372176 | USH2A | c.13938A= (p.Pro4646=)
| |
| 1 | g.215671168G>A | CA344841181 | USH2A | c.13937C>T (p.Pro4646Leu)
| |
| 1 | g.215671168G>C | CA344841183 | USH2A | c.13937C>G (p.Pro4646Arg)
| |
| 1 | g.215671168G>T | CA344841180 | USH2A | c.13937C>A (p.Pro4646Gln)
| |
| 1 | g.215671169G>A | CA344841186 | USH2A | c.13936C>T (p.Pro4646Ser)
| gnomAD v4 |
| 1 | g.215671169G>C | CA344841190 | USH2A | c.13936C>G (p.Pro4646Ala)
| |
| 1 | g.215671169G= | CA1220372177 | USH2A | c.13936C= (p.Pro4646=)
| |
| 1 | g.215671169G>T | CA1393176 | USH2A | c.13936C>A (p.Pro4646Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.215671170A= | CA1220372178 | USH2A | c.13935T= (p.Ala4645=)
| |
| 1 | g.215671170A>C | CA423426438 | USH2A | c.13935T>G (p.Ala4645=)
| |
| 1 | g.215671170A>G | CA423426437 | USH2A | c.13935T>C (p.Ala4645=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.215671170A>T | CA423426435 | USH2A | c.13935T>A (p.Ala4645=)
| |
| 1 | g.215671171G>A | CA344841200 | USH2A | c.13934C>T (p.Ala4645Val)
| |
