Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215878776C>A | CA16617056 | USH2A | c.8546G>T (p.Gly2849Val) | ClinVar dbSNP gnomAD v4 |
1 | g.215878776C= | CA1220461509 | USH2A | c.8546G= (p.Gly2849=) | |
1 | g.215878776C>G | CA344830191 | USH2A | c.8546G>C (p.Gly2849Ala) | |
1 | g.215878776C>T | CA344830194 | USH2A | c.8546G>A (p.Gly2849Glu) | ClinVar COSMIC COSMIC |
1 | g.215878777C>A | CA344830201 | USH2A | c.8545G>T (p.Gly2849Ter) | |
1 | g.215878777C= | CA1220461512 | USH2A | c.8545G= (p.Gly2849=) | |
1 | g.215878777C>G | CA344830199 | USH2A | c.8545G>C (p.Gly2849Arg) | |
1 | g.215878777C>T | CA344830200 | USH2A | c.8545G>A (p.Gly2849Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.215878778A= | CA1220461514 | USH2A | c.8544T= (p.Asn2848=) | |
1 | g.215878778A>C | CA344830203 | USH2A | c.8544T>G (p.Asn2848Lys) | |
1 | g.215878778A>G | CA423430162 | USH2A | c.8544T>C (p.Asn2848=) | |
1 | g.215878778A>T | CA344830205 | USH2A | c.8544T>A (p.Asn2848Lys) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.215878779T>A | CA344830207 | USH2A | c.8543A>T (p.Asn2848Ile) | |
1 | g.215878779T>C | CA344830210 | USH2A | c.8543A>G (p.Asn2848Ser) | |
1 | g.215878779T>G | CA344830213 | USH2A | c.8543A>C (p.Asn2848Thr) | |
1 | g.215878781del | CA2580611865 | USH2A | c.8543del (p.Asn2848MetfsTer5) | |
1 | g.215878780T>A | CA344830216 | USH2A | c.8542A>T (p.Asn2848Tyr) | |
1 | g.215878780T>C | CA344830218 | USH2A | c.8542A>G (p.Asn2848Asp) | |
1 | g.215878780T>G | CA344830220 | USH2A | c.8542A>C (p.Asn2848His) | |
1 | g.215878781T>A | CA423430170 | USH2A | c.8541A>T (p.Pro2847=) | |
1 | g.215878781T>C | CA423430171 | USH2A | c.8541A>G (p.Pro2847=) | |
1 | g.215878781T>G | CA423430172 | USH2A | c.8541A>C (p.Pro2847=) | |
1 | g.215878782G>A | CA344830223 | USH2A | c.8540C>T (p.Pro2847Leu) | gnomAD v4 |
1 | g.215878782G>C | CA344830225 | USH2A | c.8540C>G (p.Pro2847Arg) | |
1 | g.215878782G>T | CA344830227 | USH2A | c.8540C>A (p.Pro2847Gln) | |
1 | g.215878783G>A | CA344830237 | USH2A | c.8539C>T (p.Pro2847Ser) | |
1 | g.215878783G>C | CA344830234 | USH2A | c.8539C>G (p.Pro2847Ala) | |
1 | g.215878783G>T | CA344830231 | USH2A | c.8539C>A (p.Pro2847Thr) | |
1 | g.215878784C>A | CA344830238 | USH2A | c.8538G>T (p.Lys2846Asn) | |
1 | g.215878784C>G | CA344830240 | USH2A | c.8538G>C (p.Lys2846Asn) | |
1 | g.215878784C>T | CA423430179 | USH2A | c.8538G>A (p.Lys2846=) | ClinVar dbSNP gnomAD v4 |
1 | g.215878785T>A | CA344830243 | USH2A | c.8537A>T (p.Lys2846Met) | |
1 | g.215878785T>C | CA344830245 | USH2A | c.8537A>G (p.Lys2846Arg) | ClinVar dbSNP gnomAD v4 |
1 | g.215878785T>G | CA344830247 | USH2A | c.8537A>C (p.Lys2846Thr) | |
1 | g.215878785T= | CA1220461521 | USH2A | c.8537A= (p.Lys2846=) | |
1 | g.215878786T>A | CA344830251 | USH2A | c.8536A>T (p.Lys2846Ter) | |
1 | g.215878786T>C | CA344830253 | USH2A | c.8536A>G (p.Lys2846Glu) | |
1 | g.215878786T>G | CA344830256 | USH2A | c.8536A>C (p.Lys2846Gln) | |
1 | g.215878787G>A | CA423430183 | USH2A | c.8535C>T (p.Ser2845=) | gnomAD v4 |
1 | g.215878787G>C | CA423430184 | USH2A | c.8535C>G (p.Ser2845=) | ClinVar dbSNP gnomAD v4 |
1 | g.215878787G>T | CA423430185 | USH2A | c.8535C>A (p.Ser2845=) | |
1 | g.215878788G>A | CA344830258 | USH2A | c.8534C>T (p.Ser2845Phe) | gnomAD v4 |
1 | g.215878788G>C | CA344830260 | USH2A | c.8534C>G (p.Ser2845Cys) | |
1 | g.215878788G>T | CA344830267 | USH2A | c.8534C>A (p.Ser2845Tyr) | |
1 | g.215878789A>C | CA344830272 | USH2A | c.8533T>G (p.Ser2845Ala) | |
1 | g.215878789A>G | CA344830273 | USH2A | c.8533T>C (p.Ser2845Pro) | |
1 | g.215878789A>T | CA344830276 | USH2A | c.8533T>A (p.Ser2845Thr) | |
1 | g.215878790T>A | CA423430188 | USH2A | c.8532A>T (p.Pro2844=) | ClinVar dbSNP gnomAD v2 |
1 | g.215878790T>C | CA423430189 | USH2A | c.8532A>G (p.Pro2844=) | gnomAD v4 |
1 | g.215878790T>G | CA423430190 | USH2A | c.8532A>C (p.Pro2844=) |