Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216325499_216325506dup | CA2586968409 | USH2A | c.944_951dup (p.Tyr318HisfsTer21) | |
1 | g.216325499G>A | CA344912575 | USH2A | c.949C>T (p.Arg317Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216325499G>C | CA344912576 | USH2A | c.949C>G (p.Arg317Gly) | |
1 | g.216325499G= | CA1141189317 | USH2A | c.949C= (p.Arg317=) | |
1 | g.216325499G>T | CA252237 | USH2A | c.949C>A (p.Arg317=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216325500C>A | CA344912577 | USH2A | c.948G>T (p.Gln316His) | |
1 | g.216325500C>G | CA344912578 | USH2A | c.948G>C (p.Gln316His) | |
1 | g.216325500C>T | CA423434968 | USH2A | c.948G>A (p.Gln316=) | gnomAD v4 |
1 | g.216325501T>A | CA344912579 | USH2A | c.947A>T (p.Gln316Leu) | |
1 | g.216325501T>C | CA344912580 | USH2A | c.947A>G (p.Gln316Arg) | |
1 | g.216325501T>G | CA344912581 | USH2A | c.947A>C (p.Gln316Pro) | gnomAD v4 |
1 | g.216325502G>A | CA344912582 | USH2A | c.946C>T (p.Gln316Ter) | ClinVar |
1 | g.216325502G>C | CA344912583 | USH2A | c.946C>G (p.Gln316Glu) | |
1 | g.216325502G>T | CA344912584 | USH2A | c.946C>A (p.Gln316Lys) | |
1 | g.216325503T>A | CA423434970 | USH2A | c.945A>T (p.Ala315=) | |
1 | g.216325503T>C | CA423434972 | USH2A | c.945A>G (p.Ala315=) | |
1 | g.216325503T>G | CA423434971 | USH2A | c.945A>C (p.Ala315=) | ClinVar |
1 | g.216325504G>A | CA344912585 | USH2A | c.944C>T (p.Ala315Val) | gnomAD v4 |
1 | g.216325504G>C | CA344912586 | USH2A | c.944C>G (p.Ala315Gly) | |
1 | g.216325504G>T | CA344912587 | USH2A | c.944C>A (p.Ala315Glu) | |
1 | g.216325505C>A | CA344912589 | USH2A | c.943G>T (p.Ala315Ser) | dbSNP |
1 | g.216325505C= | CA1220652955 | USH2A | c.943G= (p.Ala315=) | |
1 | g.216325505C>G | CA344912588 | USH2A | c.943G>C (p.Ala315Pro) | |
1 | g.216325505C>T | CA1396635 | USH2A | c.943G>A (p.Ala315Thr) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.216325506C>A | CA344912590 | USH2A | c.942G>T (p.Leu314Phe) | |
1 | g.216325506C= | CA1220652956 | USH2A | c.942G= (p.Leu314=) | |
1 | g.216325506C>G | CA1396636 | USH2A | c.942G>C (p.Leu314Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216325506C>T | CA423434973 | USH2A | c.942G>A (p.Leu314=) | |
1 | g.216325507A= | CA1220652957 | USH2A | c.941T= (p.Leu314=) | |
1 | g.216325507A>C | CA344912591 | USH2A | c.941T>G (p.Leu314Trp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216325507A>G | CA344912592 | USH2A | c.941T>C (p.Leu314Ser) | |
1 | g.216325507A>T | CA344912593 | USH2A | c.941T>A (p.Leu314Ter) | |
1 | g.216325508A>C | CA344912594 | USH2A | c.940T>G (p.Leu314Val) | |
1 | g.216325508A>G | CA423434976 | USH2A | c.940T>C (p.Leu314=) | |
1 | g.216325508A>T | CA344912595 | USH2A | c.940T>A (p.Leu314Met) | |
1 | g.216325509A>C | CA423434977 | USH2A | c.939T>G (p.Pro313=) | |
1 | g.216325509A>G | CA423434978 | USH2A | c.939T>C (p.Pro313=) | |
1 | g.216325509A>T | CA423434979 | USH2A | c.939T>A (p.Pro313=) | gnomAD v4 |
1 | g.216325510G>A | CA344912596 | USH2A | c.938C>T (p.Pro313Leu) | gnomAD v4 |
1 | g.216325510G>C | CA344912597 | USH2A | c.938C>G (p.Pro313Arg) | |
1 | g.216325510G= | CA1144229214 | USH2A | c.938C= (p.Pro313=) | |
1 | g.216325510G>T | CA143662 | USH2A | c.938C>A (p.Pro313His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216325511G>A | CA344912598 | USH2A | c.937C>T (p.Pro313Ser) | |
1 | g.216325511G>C | CA1396637 | USH2A | c.937C>G (p.Pro313Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216325511G= | CA1220652958 | USH2A | c.937C= (p.Pro313=) | |
1 | g.216325511G>T | CA344912599 | USH2A | c.937C>A (p.Pro313Thr) | |
1 | g.216325512G>A | CA423434988 | USH2A | c.936C>T (p.His312=) | ClinVar dbSNP |
1 | g.216325512G>C | CA344912600 | USH2A | c.936C>G (p.His312Gln) | |
1 | g.216325512G>T | CA344912601 | USH2A | c.936C>A (p.His312Gln) | |
1 | g.216325513T>A | CA344912602 | USH2A | c.935A>T (p.His312Leu) |