Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216418539_216418680delinsTTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACC | CA1220688185 | USH2A | c.486-1_626delinsGGTGTGTTATAGAAAAGACAGTAGATGGGCAGATTGTGTTCAAACTTACAATATCTGAGAAAGAGACCATGTTTTATTATCGCACAGTAAATGGTTTGCAACCTCCAATAAAAGTAATGACACTGGGGAGAATTCTTGTGAA | |
1 | g.216418541_216418681del | CA915942016 | USH2A | c.486-1_625del | ClinVar dbSNP |
1 | g.216418542_216418680del | CA2573132657 | USH2A | c.486_624del | ClinVar dbSNP |
1 | g.216418575G>A | CA344902425 | USH2A | c.590C>T (p.Pro197Leu) | |
1 | g.216418575G>C | CA344902429 | USH2A | c.590C>G (p.Pro197Arg) | dbSNP gnomAD v4 |
1 | g.216418575G= | CA1220688247 | USH2A | c.590C= (p.Pro197=) | |
1 | g.216418575G>T | CA344902427 | USH2A | c.590C>A (p.Pro197Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418576G>A | CA37921744 | USH2A | c.589C>T (p.Pro197Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418576G>C | CA1396745 | USH2A | c.589C>G (p.Pro197Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216418576G= | CA1147450930 | USH2A | c.589C= (p.Pro197=) | |
1 | g.216418576G>T | CA344902435 | USH2A | c.589C>A (p.Pro197Thr) | |
1 | g.216418576_216418577insGA | CA2586968314 | USH2A | c.588_589insTC (p.Pro197SerfsTer3) | |
1 | g.216418577A>C | CA423396247 | USH2A | c.588T>G (p.Pro196=) | |
1 | g.216418577A>G | CA423396248 | USH2A | c.588T>C (p.Pro196=) | |
1 | g.216418577A>T | CA423396249 | USH2A | c.588T>A (p.Pro196=) | |
1 | g.216418578G>A | CA344902437 | USH2A | c.587C>T (p.Pro196Leu) | gnomAD v4 |
1 | g.216418578G>C | CA344902439 | USH2A | c.587C>G (p.Pro196Arg) | |
1 | g.216418578G>T | CA344902442 | USH2A | c.587C>A (p.Pro196His) | |
1 | g.216418579G>A | CA1396746 | USH2A | c.586C>T (p.Pro196Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216418579G>C | CA344902446 | USH2A | c.586C>G (p.Pro196Ala) | |
1 | g.216418579G= | CA1220688255 | USH2A | c.586C= (p.Pro196=) | |
1 | g.216418579G>T | CA344902448 | USH2A | c.586C>A (p.Pro196Thr) | gnomAD v4 |
1 | g.216418580T>A | CA344902451 | USH2A | c.585A>T (p.Gln195His) | |
1 | g.216418580T>C | CA423396251 | USH2A | c.585A>G (p.Gln195=) | |
1 | g.216418580T>G | CA344902453 | USH2A | c.585A>C (p.Gln195His) | |
1 | g.216418581T>A | CA344902460 | USH2A | c.584A>T (p.Gln195Leu) | |
1 | g.216418581T>C | CA344902456 | USH2A | c.584A>G (p.Gln195Arg) | |
1 | g.216418581T>G | CA344902458 | USH2A | c.584A>C (p.Gln195Pro) | |
1 | g.216418582G>A | CA344902463 | USH2A | c.583C>T (p.Gln195Ter) | |
1 | g.216418582G>C | CA344902465 | USH2A | c.583C>G (p.Gln195Glu) | |
1 | g.216418582G>T | CA344902467 | USH2A | c.583C>A (p.Gln195Lys) | |
1 | g.216418583C>A | CA344902470 | USH2A | c.582G>T (p.Leu194Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216418583C= | CA1220688263 | USH2A | c.582G= (p.Leu194=) | |
1 | g.216418583C>G | CA344902471 | USH2A | c.582G>C (p.Leu194Phe) | |
1 | g.216418583C>T | CA423396252 | USH2A | c.582G>A (p.Leu194=) | |
1 | g.216418584A>C | CA344902475 | USH2A | c.581T>G (p.Leu194Trp) | |
1 | g.216418584A>G | CA344902476 | USH2A | c.581T>C (p.Leu194Ser) | |
1 | g.216418584A>T | CA344902477 | USH2A | c.581T>A (p.Leu194Ter) | |
1 | g.216418585A>C | CA344902478 | USH2A | c.580T>G (p.Leu194Val) | |
1 | g.216418585A>G | CA423396253 | USH2A | c.580T>C (p.Leu194=) | ClinVar dbSNP gnomAD v4 |
1 | g.216418585A>T | CA344902479 | USH2A | c.580T>A (p.Leu194Met) | |
1 | g.216418586A= | CA1220688267 | USH2A | c.579T= (p.Gly193=) | |
1 | g.216418586A>C | CA1396747 | USH2A | c.579T>G (p.Gly193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216418586A>G | CA423396254 | USH2A | c.579T>C (p.Gly193=) | |
1 | g.216418586A>T | CA423396255 | USH2A | c.579T>A (p.Gly193=) | |
1 | g.216418587C>A | CA344902482 | USH2A | c.578G>T (p.Gly193Val) | |
1 | g.216418587C= | CA1220688270 | USH2A | c.578G= (p.Gly193=) | |
1 | g.216418587C>G | CA344902481 | USH2A | c.578G>C (p.Gly193Ala) | |
1 | g.216418587C>T | CA344902480 | USH2A | c.578G>A (p.Gly193Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.216418588C>A | CA344902485 | USH2A | c.577G>T (p.Gly193Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |