Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215799056_215799077delinsCTGCCACAGCAGGAATCACCAA | CA1220426216 | USH2A | c.9788_9809delinsTTGGTGATTCCTGCTGTGGCAG (p.Ile3263=) | |
1 | g.215799062_215799082del | CA529002276 | USH2A | c.9788_9808del (p.Ile3263_Gly3269del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215799077A= | CA1220426239 | USH2A | c.9788T= (p.Ile3263=) | |
1 | g.215799077A>C | CA344849809 | USH2A | c.9788T>G (p.Ile3263Ser) | |
1 | g.215799077A>G | CA37448603 | USH2A | c.9788T>C (p.Ile3263Thr) | dbSNP gnomAD v4 |
1 | g.215799077A>T | CA344849812 | USH2A | c.9788T>A (p.Ile3263Asn) | |
1 | g.215799078T>A | CA344849816 | USH2A | c.9787A>T (p.Ile3263Phe) | |
1 | g.215799078T>C | CA37448628 | USH2A | c.9787A>G (p.Ile3263Val) | ClinVar dbSNP gnomAD v4 |
1 | g.215799078T>G | CA344849817 | USH2A | c.9787A>C (p.Ile3263Leu) | |
1 | g.215799078T= | CA1220426240 | USH2A | c.9787A= (p.Ile3263=) | |
1 | g.215799079G>A | CA423430374 | USH2A | c.9786C>T (p.Gly3262=) | |
1 | g.215799079G>C | CA423430375 | USH2A | c.9786C>G (p.Gly3262=) | |
1 | g.215799079G>T | CA423430376 | USH2A | c.9786C>A (p.Gly3262=) | |
1 | g.215799080C>A | CA344849833 | USH2A | c.9785G>T (p.Gly3262Val) | ClinVar dbSNP |
1 | g.215799080C= | CA1220426242 | USH2A | c.9785G= (p.Gly3262=) | |
1 | g.215799080C>G | CA344849837 | USH2A | c.9785G>C (p.Gly3262Ala) | |
1 | g.215799080C>T | CA344849841 | USH2A | c.9785G>A (p.Gly3262Asp) | |
1 | g.215799081C>A | CA344849845 | USH2A | c.9784G>T (p.Gly3262Cys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215799081C= | CA1220426247 | USH2A | c.9784G= (p.Gly3262=) | |
1 | g.215799081C>G | CA344849847 | USH2A | c.9784G>C (p.Gly3262Arg) | |
1 | g.215799081C>T | CA344849850 | USH2A | c.9784G>A (p.Gly3262Ser) | |
1 | g.215799082A>C | CA423430378 | USH2A | c.9783T>G (p.Val3261=) | |
1 | g.215799082A>G | CA423430379 | USH2A | c.9783T>C (p.Val3261=) | |
1 | g.215799082A>T | CA423430382 | USH2A | c.9783T>A (p.Val3261=) | |
1 | g.215799083A>C | CA344849855 | USH2A | c.9782T>G (p.Val3261Gly) | |
1 | g.215799083A>G | CA344849864 | USH2A | c.9782T>C (p.Val3261Ala) | gnomAD v4 |
1 | g.215799083A>T | CA344849868 | USH2A | c.9782T>A (p.Val3261Asp) | |
1 | g.215799084C>A | CA344849873 | USH2A | c.9781G>T (p.Val3261Phe) | |
1 | g.215799084C= | CA1220426251 | USH2A | c.9781G= (p.Val3261=) | |
1 | g.215799084C>G | CA344849874 | USH2A | c.9781G>C (p.Val3261Leu) | ClinVar dbSNP |
1 | g.215799084C>T | CA344849875 | USH2A | c.9781G>A (p.Val3261Ile) | gnomAD v4 |
1 | g.215799085A>C | CA423430387 | USH2A | c.9780T>G (p.Ser3260=) | |
1 | g.215799085A>G | CA423430388 | USH2A | c.9780T>C (p.Ser3260=) | |
1 | g.215799085A>T | CA423430389 | USH2A | c.9780T>A (p.Ser3260=) | |
1 | g.215799086G>A | CA344849889 | USH2A | c.9779C>T (p.Ser3260Phe) | |
1 | g.215799086G>C | CA344849880 | USH2A | c.9779C>G (p.Ser3260Cys) | |
1 | g.215799086G>T | CA344849887 | USH2A | c.9779C>A (p.Ser3260Tyr) | |
1 | g.215799087A>C | CA344849893 | USH2A | c.9778T>G (p.Ser3260Ala) | |
1 | g.215799087A>G | CA344849920 | USH2A | c.9778T>C (p.Ser3260Pro) | |
1 | g.215799087A>T | CA344849921 | USH2A | c.9778T>A (p.Ser3260Thr) | |
1 | g.215799088A>C | CA423430391 | USH2A | c.9777T>G (p.Val3259=) | ClinVar dbSNP |
1 | g.215799088A>G | CA423430392 | USH2A | c.9777T>C (p.Val3259=) | |
1 | g.215799088A>T | CA423430393 | USH2A | c.9777T>A (p.Val3259=) | |
1 | g.215799089A>C | CA344849925 | USH2A | c.9776T>G (p.Val3259Gly) | |
1 | g.215799089A>G | CA344849928 | USH2A | c.9776T>C (p.Val3259Ala) | |
1 | g.215799089A>T | CA344849930 | USH2A | c.9776T>A (p.Val3259Asp) | |
1 | g.215799090C>A | CA344849937 | USH2A | c.9775G>T (p.Val3259Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215799090C= | CA1220426253 | USH2A | c.9775G= (p.Val3259=) | |
1 | g.215799090C>G | CA344849939 | USH2A | c.9775G>C (p.Val3259Leu) | |
1 | g.215799090C>T | CA344849943 | USH2A | c.9775G>A (p.Val3259Ile) |