Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215878791G>A | CA344830283 | USH2A | c.8531C>T (p.Pro2844Leu) | |
1 | g.215878791G>C | CA344830278 | USH2A | c.8531C>G (p.Pro2844Arg) | COSMIC COSMIC |
1 | g.215878791G>T | CA344830281 | USH2A | c.8531C>A (p.Pro2844Gln) | |
1 | g.215878792G>A | CA344830292 | USH2A | c.8530C>T (p.Pro2844Ser) | gnomAD v4 |
1 | g.215878792G>C | CA344830293 | USH2A | c.8530C>G (p.Pro2844Ala) | |
1 | g.215878792G= | CA1220461530 | USH2A | c.8530C= (p.Pro2844=) | |
1 | g.215878792G>T | CA344830295 | USH2A | c.8530C>A (p.Pro2844Thr) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878793T>A | CA423430192 | USH2A | c.8529A>T (p.Pro2843=) | |
1 | g.215878793T>C | CA423430194 | USH2A | c.8529A>G (p.Pro2843=) | |
1 | g.215878793T>G | CA423430195 | USH2A | c.8529A>C (p.Pro2843=) | |
1 | g.215878794G>A | CA344830300 | USH2A | c.8528C>T (p.Pro2843Leu) | dbSNP gnomAD v4 |
1 | g.215878794G>C | CA344830302 | USH2A | c.8528C>G (p.Pro2843Arg) | |
1 | g.215878794G= | CA1220461535 | USH2A | c.8528C= (p.Pro2843=) | |
1 | g.215878794G>T | CA344830304 | USH2A | c.8528C>A (p.Pro2843Gln) | |
1 | g.215878795G>A | CA344830311 | USH2A | c.8527C>T (p.Pro2843Ser) | |
1 | g.215878795G>C | CA344830313 | USH2A | c.8527C>G (p.Pro2843Ala) | |
1 | g.215878795G>T | CA344830318 | USH2A | c.8527C>A (p.Pro2843Thr) | |
1 | g.215878796T>A | CA344830320 | USH2A | c.8526A>T (p.Gln2842His) | |
1 | g.215878796T>C | CA423430198 | USH2A | c.8526A>G (p.Gln2842=) | |
1 | g.215878796T>G | CA344830322 | USH2A | c.8526A>C (p.Gln2842His) | |
1 | g.215878797T>A | CA344830330 | USH2A | c.8525A>T (p.Gln2842Leu) | gnomAD v4 |
1 | g.215878797T>C | CA344830333 | USH2A | c.8525A>G (p.Gln2842Arg) | |
1 | g.215878797T>G | CA344830328 | USH2A | c.8525A>C (p.Gln2842Pro) | |
1 | g.215878798G>A | CA344830336 | USH2A | c.8524C>T (p.Gln2842Ter) | |
1 | g.215878798G>C | CA344830338 | USH2A | c.8524C>G (p.Gln2842Glu) | |
1 | g.215878798G>T | CA344830339 | USH2A | c.8524C>A (p.Gln2842Lys) | |
1 | g.215878799C>A | CA344830341 | USH2A | c.8523G>T (p.Trp2841Cys) | |
1 | g.215878799C>G | CA344830343 | USH2A | c.8523G>C (p.Trp2841Cys) | gnomAD v4 |
1 | g.215878799C>T | CA344830345 | USH2A | c.8523G>A (p.Trp2841Ter) | |
1 | g.215878800C>A | CA344830347 | USH2A | c.8522G>T (p.Trp2841Leu) | |
1 | g.215878800C= | CA1220461538 | USH2A | c.8522G= (p.Trp2841=) | |
1 | g.215878800C>G | CA344830351 | USH2A | c.8522G>C (p.Trp2841Ser) | |
1 | g.215878800C>T | CA16621590 | USH2A | c.8522G>A (p.Trp2841Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878801A>C | CA344830353 | USH2A | c.8521T>G (p.Trp2841Gly) | gnomAD v4 |
1 | g.215878801A>G | CA344830354 | USH2A | c.8521T>C (p.Trp2841Arg) | |
1 | g.215878801A>T | CA344830355 | USH2A | c.8521T>A (p.Trp2841Arg) | |
1 | g.215878802A>C | CA423430208 | USH2A | c.8520T>G (p.Ser2840=) | gnomAD v4 |
1 | g.215878802A>G | CA423430209 | USH2A | c.8520T>C (p.Ser2840=) | |
1 | g.215878802A>T | CA423430210 | USH2A | c.8520T>A (p.Ser2840=) | |
1 | g.215878803G>A | CA344830357 | USH2A | c.8519C>T (p.Ser2840Phe) | |
1 | g.215878803G>C | CA344830358 | USH2A | c.8519C>G (p.Ser2840Cys) | |
1 | g.215878803G>T | CA344830356 | USH2A | c.8519C>A (p.Ser2840Tyr) | |
1 | g.215878804A>C | CA344830360 | USH2A | c.8518T>G (p.Ser2840Ala) | |
1 | g.215878804A>G | CA344830362 | USH2A | c.8518T>C (p.Ser2840Pro) | |
1 | g.215878804A>T | CA344830363 | USH2A | c.8518T>A (p.Ser2840Thr) | |
1 | g.215878805A>C | CA344830375 | USH2A | c.8517T>G (p.Ile2839Met) | |
1 | g.215878805A>G | CA423430215 | USH2A | c.8517T>C (p.Ile2839=) | |
1 | g.215878805A>T | CA423430216 | USH2A | c.8517T>A (p.Ile2839=) | |
1 | g.215878806A>C | CA344830387 | USH2A | c.8516T>G (p.Ile2839Ser) | |
1 | g.215878806A>G | CA344830385 | USH2A | c.8516T>C (p.Ile2839Thr) |