Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215798973G>A | CA344848769 | USH2A | c.9892C>T (p.Gln3298Ter) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215798973G>C | CA344848782 | USH2A | c.9892C>G (p.Gln3298Glu) | gnomAD v4 |
1 | g.215798973G= | CA1220426039 | USH2A | c.9892C= (p.Gln3298=) | |
1 | g.215798973G>T | CA344848785 | USH2A | c.9892C>A (p.Gln3298Lys) | |
1 | g.215798974T>A | CA344848788 | USH2A | c.9891A>T (p.Arg3297Ser) | |
1 | g.215798974T>C | CA423430254 | USH2A | c.9891A>G (p.Arg3297=) | ClinVar dbSNP gnomAD v4 |
1 | g.215798974T>G | CA344848794 | USH2A | c.9891A>C (p.Arg3297Ser) | |
1 | g.215798975C>A | CA344848801 | USH2A | c.9890G>T (p.Arg3297Ile) | |
1 | g.215798975C>G | CA344848803 | USH2A | c.9890G>C (p.Arg3297Thr) | |
1 | g.215798975C>T | CA344848808 | USH2A | c.9890G>A (p.Arg3297Lys) | COSMIC COSMIC |
1 | g.215798976T>A | CA344848813 | USH2A | c.9889A>T (p.Arg3297Ter) | |
1 | g.215798976T>C | CA344848823 | USH2A | c.9889A>G (p.Arg3297Gly) | dbSNP |
1 | g.215798976T>G | CA423430258 | USH2A | c.9889A>C (p.Arg3297=) | |
1 | g.215798976T= | CA1220426041 | USH2A | c.9889A= (p.Arg3297=) | |
1 | g.215798977G>A | CA423430259 | USH2A | c.9888C>T (p.Gly3296=) | ClinVar |
1 | g.215798977G>C | CA423430260 | USH2A | c.9888C>G (p.Gly3296=) | |
1 | g.215798977G>T | CA423430261 | USH2A | c.9888C>A (p.Gly3296=) | |
1 | g.215798978C>A | CA344848835 | USH2A | c.9887G>T (p.Gly3296Val) | |
1 | g.215798978C= | CA1220426045 | USH2A | c.9887G= (p.Gly3296=) | |
1 | g.215798978C>G | CA344848830 | USH2A | c.9887G>C (p.Gly3296Ala) | |
1 | g.215798978C>T | CA344848826 | USH2A | c.9887G>A (p.Gly3296Asp) | dbSNP gnomAD v4 |
1 | g.215798979C>A | CA344848838 | USH2A | c.9886G>T (p.Gly3296Cys) | |
1 | g.215798979C= | CA1143776391 | USH2A | c.9886G= (p.Gly3296=) | |
1 | g.215798979C>G | CA344848841 | USH2A | c.9886G>C (p.Gly3296Arg) | |
1 | g.215798979C>T | CA1394187 | USH2A | c.9886G>A (p.Gly3296Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798979_215798980insCCTTACCTGGAAGGCGATTGT | CA1220426052 | USH2A | c.9885_9886insACAATCGCCTTCCAGGTAAGG (p.Cys3295_Gly3296insThrIleAlaPheGlnValArg) | dbSNP |
1 | g.215798980A= | CA1220426053 | USH2A | c.9885T= (p.Cys3295=) | |
1 | g.215798980A>C | CA1394188 | USH2A | c.9885T>G (p.Cys3295Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798980A>G | CA423430265 | USH2A | c.9885T>C (p.Cys3295=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798980A>T | CA344848843 | USH2A | c.9885T>A (p.Cys3295Ter) | |
1 | g.215798981C>A | CA344848844 | USH2A | c.9884G>T (p.Cys3295Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215798981C= | CA1220426060 | USH2A | c.9884G= (p.Cys3295=) | |
1 | g.215798981C>G | CA344848845 | USH2A | c.9884G>C (p.Cys3295Ser) | |
1 | g.215798981C>T | CA344848848 | USH2A | c.9884G>A (p.Cys3295Tyr) | ClinVar dbSNP |
1 | g.215798982A>C | CA344848854 | USH2A | c.9883T>G (p.Cys3295Gly) | |
1 | g.215798982A>G | CA344848867 | USH2A | c.9883T>C (p.Cys3295Arg) | |
1 | g.215798982A>T | CA344848869 | USH2A | c.9883T>A (p.Cys3295Ser) | |
1 | g.215798983G>A | CA423430267 | USH2A | c.9882C>T (p.Cys3294=) | |
1 | g.215798983G>C | CA1394189 | USH2A | c.9882C>G (p.Cys3294Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215798983G= | CA1149074681 | USH2A | c.9882C= (p.Cys3294=) | |
1 | g.215798983G>T | CA344848873 | USH2A | c.9882C>A (p.Cys3294Ter) | |
1 | g.215798983_215798984insA | CA2573131592 | USH2A | c.9881_9882insT (p.Cys3295LeufsTer?) | ClinVar dbSNP |
1 | g.215798984C>A | CA344848876 | USH2A | c.9881G>T (p.Cys3294Phe) | ClinVar dbSNP |
1 | g.215798984C>G | CA344848879 | USH2A | c.9881G>C (p.Cys3294Ser) | |
1 | g.215798984C>T | CA344848874 | USH2A | c.9881G>A (p.Cys3294Tyr) | gnomAD v4 |
1 | g.215798985A= | CA1220426069 | USH2A | c.9880T= (p.Cys3294=) | |
1 | g.215798985A>C | CA344848882 | USH2A | c.9880T>G (p.Cys3294Gly) | |
1 | g.215798985A>G | CA344848884 | USH2A | c.9880T>C (p.Cys3294Arg) | |
1 | g.215798985A>T | CA1394190 | USH2A | c.9880T>A (p.Cys3294Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215798986C>A | CA344848891 | USH2A | c.9879G>T (p.Lys3293Asn) |