Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215799056C>A | CA344849593 | USH2A | c.9809G>T (p.Arg3270Ile) | |
1 | g.215799056C= | CA1220426213 | USH2A | c.9809G= (p.Arg3270=) | |
1 | g.215799056C>G | CA37448600 | USH2A | c.9809G>C (p.Arg3270Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215799056C>T | CA344849594 | USH2A | c.9809G>A (p.Arg3270Lys) | COSMIC COSMIC |
1 | g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA | CA1220426216 | USH2A | c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG (p.Ile3263=) | |
1 | g.215799057T>A | CA344849597 | USH2A | c.9808A>T (p.Arg3270Ter) | |
1 | g.215799057T>C | CA344849601 | USH2A | c.9808A>G (p.Arg3270Gly) | ClinVar dbSNP gnomAD v4 |
1 | g.215799057T>G | CA423430359 | USH2A | c.9808A>C (p.Arg3270=) | |
1 | g.215799057T= | CA1220426221 | USH2A | c.9808A= (p.Arg3270=) | |
1 | g.215799062_215799082del | CA529002276 | USH2A | c.9788_9808del (p.Ile3263_Gly3269del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215799058G>A | CA423430360 | USH2A | c.9807C>T (p.Gly3269=) | gnomAD v4 |
1 | g.215799058G>C | CA423430361 | USH2A | c.9807C>G (p.Gly3269=) | |
1 | g.215799058G>T | CA423430362 | USH2A | c.9807C>A (p.Gly3269=) | |
1 | g.215799059C>A | CA344849606 | USH2A | c.9806G>T (p.Gly3269Val) | |
1 | g.215799059C= | CA1220426225 | USH2A | c.9806G= (p.Gly3269=) | |
1 | g.215799059C>G | CA344849610 | USH2A | c.9806G>C (p.Gly3269Ala) | |
1 | g.215799059C>T | CA1394202 | USH2A | c.9806G>A (p.Gly3269Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215799060C>A | CA344849623 | USH2A | c.9805G>T (p.Gly3269Cys) | |
1 | g.215799060C>G | CA344849625 | USH2A | c.9805G>C (p.Gly3269Arg) | |
1 | g.215799060C>T | CA344849630 | USH2A | c.9805G>A (p.Gly3269Ser) | |
1 | g.215799061A>C | CA344849644 | USH2A | c.9804T>G (p.Cys3268Trp) | |
1 | g.215799061A>G | CA423430363 | USH2A | c.9804T>C (p.Cys3268=) | ClinVar |
1 | g.215799061A>T | CA344849649 | USH2A | c.9804T>A (p.Cys3268Ter) | |
1 | g.215799062C>A | CA344849656 | USH2A | c.9803G>T (p.Cys3268Phe) | |
1 | g.215799062C= | CA1220426227 | USH2A | c.9803G= (p.Cys3268=) | |
1 | g.215799062C>G | CA344849662 | USH2A | c.9803G>C (p.Cys3268Ser) | |
1 | g.215799062C>T | CA344849659 | USH2A | c.9803G>A (p.Cys3268Tyr) | ClinVar dbSNP |
1 | g.215799063A= | CA1220426229 | USH2A | c.9802T= (p.Cys3268=) | |
1 | g.215799063A>C | CA344849667 | USH2A | c.9802T>G (p.Cys3268Gly) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215799063A>G | CA344849669 | USH2A | c.9802T>C (p.Cys3268Arg) | |
1 | g.215799063A>T | CA344849673 | USH2A | c.9802T>A (p.Cys3268Ser) | |
1 | g.215799064G>A | CA423430364 | USH2A | c.9801C>T (p.Cys3267=) | |
1 | g.215799064G>C | CA344849682 | USH2A | c.9801C>G (p.Cys3267Trp) | |
1 | g.215799064G>T | CA344849689 | USH2A | c.9801C>A (p.Cys3267Ter) | |
1 | g.215799065C>A | CA344849700 | USH2A | c.9800G>T (p.Cys3267Phe) | ClinVar dbSNP gnomAD v4 |
1 | g.215799065C= | CA1220426230 | USH2A | c.9800G= (p.Cys3267=) | |
1 | g.215799065C>G | CA344849698 | USH2A | c.9800G>C (p.Cys3267Ser) | |
1 | g.215799065C>T | CA344849694 | USH2A | c.9800G>A (p.Cys3267Tyr) | |
1 | g.215799066A= | CA1141189281 | USH2A | c.9799T= (p.Cys3267=) | |
1 | g.215799066A>C | CA344849705 | USH2A | c.9799T>G (p.Cys3267Gly) | |
1 | g.215799066A>G | CA262135 | USH2A | c.9799T>C (p.Cys3267Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215799066A>T | CA344849710 | USH2A | c.9799T>A (p.Cys3267Ser) | |
1 | g.215799067G>A | CA423430367 | USH2A | c.9798C>T (p.Ser3266=) | ClinVar dbSNP |
1 | g.215799067G>C | CA423430365 | USH2A | c.9798C>G (p.Ser3266=) | |
1 | g.215799067G>T | CA423430366 | USH2A | c.9798C>A (p.Ser3266=) | |
1 | g.215799068G>A | CA344849714 | USH2A | c.9797C>T (p.Ser3266Phe) | gnomAD v4 |
1 | g.215799068G>C | CA344849715 | USH2A | c.9797C>G (p.Ser3266Cys) | |
1 | g.215799068G>T | CA344849719 | USH2A | c.9797C>A (p.Ser3266Tyr) | |
1 | g.215799069A>C | CA344849725 | USH2A | c.9796T>G (p.Ser3266Ala) | |
1 | g.215799069A>G | CA344849734 | USH2A | c.9796T>C (p.Ser3266Pro) |