Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216175374A>C | CA344863751 | USH2A | c.4505T>G (p.Leu1502Arg) | |
1 | g.216175374A>G | CA344863753 | USH2A | c.4505T>C (p.Leu1502Pro) | |
1 | g.216175374A>T | CA344863752 | USH2A | c.4505T>A (p.Leu1502Gln) | |
1 | g.216175375G>A | CA423430976 | USH2A | c.4504C>T (p.Leu1502=) | |
1 | g.216175375G>C | CA344863754 | USH2A | c.4504C>G (p.Leu1502Val) | |
1 | g.216175375G>T | CA344863755 | USH2A | c.4504C>A (p.Leu1502Met) | |
1 | g.216175376C>A | CA344863756 | USH2A | c.4503G>T (p.Gln1501His) | dbSNP |
1 | g.216175376C= | CA1220588163 | USH2A | c.4503G= (p.Gln1501=) | |
1 | g.216175376C>G | CA344863757 | USH2A | c.4503G>C (p.Gln1501His) | |
1 | g.216175376C>T | CA423430977 | USH2A | c.4503G>A (p.Gln1501=) | COSMIC |
1 | g.216175377T>A | CA344863758 | USH2A | c.4502A>T (p.Gln1501Leu) | |
1 | g.216175377T>C | CA344863759 | USH2A | c.4502A>G (p.Gln1501Arg) | dbSNP gnomAD v4 |
1 | g.216175377T>G | CA344863760 | USH2A | c.4502A>C (p.Gln1501Pro) | |
1 | g.216175377T= | CA1220588166 | USH2A | c.4502A= (p.Gln1501=) | |
1 | g.216175378G>A | CA344863761 | USH2A | c.4501C>T (p.Gln1501Ter) | |
1 | g.216175378G>C | CA344863762 | USH2A | c.4501C>G (p.Gln1501Glu) | dbSNP |
1 | g.216175378G= | CA1220588171 | USH2A | c.4501C= (p.Gln1501=) | |
1 | g.216175378G>T | CA344863763 | USH2A | c.4501C>A (p.Gln1501Lys) | |
1 | g.216175379A>C | CA344863764 | USH2A | c.4500T>G (p.Tyr1500Ter) | |
1 | g.216175379A>G | CA423430983 | USH2A | c.4500T>C (p.Tyr1500=) | |
1 | g.216175379A>T | CA344863765 | USH2A | c.4500T>A (p.Tyr1500Ter) | |
1 | g.216175380T>A | CA344863766 | USH2A | c.4499A>T (p.Tyr1500Phe) | |
1 | g.216175380T>C | CA344863767 | USH2A | c.4499A>G (p.Tyr1500Cys) | |
1 | g.216175380T>G | CA344863768 | USH2A | c.4499A>C (p.Tyr1500Ser) | |
1 | g.216175381A= | CA1220588173 | USH2A | c.4498T= (p.Tyr1500=) | |
1 | g.216175381A>C | CA344863769 | USH2A | c.4498T>G (p.Tyr1500Asp) | gnomAD v4 |
1 | g.216175381A>G | CA344863771 | USH2A | c.4498T>C (p.Tyr1500His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.216175381A>T | CA344863770 | USH2A | c.4498T>A (p.Tyr1500Asn) | |
1 | g.216175382T>A | CA37492798 | USH2A | c.4497A>T (p.Ile1499=) | ClinVar dbSNP |
1 | g.216175382T>C | CA37492800 | USH2A | c.4497A>G (p.Ile1499Met) | dbSNP gnomAD v4 |
1 | g.216175382T>G | CA423430988 | USH2A | c.4497A>C (p.Ile1499=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.216175382T= | CA1220588175 | USH2A | c.4497A= (p.Ile1499=) | |
1 | g.216175383A= | CA1220588178 | USH2A | c.4496T= (p.Ile1499=) | |
1 | g.216175383A>C | CA344863772 | USH2A | c.4496T>G (p.Ile1499Arg) | |
1 | g.216175383A>G | CA344863773 | USH2A | c.4496T>C (p.Ile1499Thr) | |
1 | g.216175383A>T | CA1395700 | USH2A | c.4496T>A (p.Ile1499Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216175384T>A | CA344863774 | USH2A | c.4495A>T (p.Ile1499Leu) | |
1 | g.216175384T>C | CA344863775 | USH2A | c.4495A>G (p.Ile1499Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.216175384T>G | CA344863776 | USH2A | c.4495A>C (p.Ile1499Leu) | |
1 | g.216175384T= | CA1220588182 | USH2A | c.4495A= (p.Ile1499=) | |
1 | g.216175385A>C | CA423430997 | USH2A | c.4494T>G (p.Pro1498=) | |
1 | g.216175385A>G | CA423431000 | USH2A | c.4494T>C (p.Pro1498=) | ClinVar COSMIC COSMIC COSMIC |
1 | g.216175385A>T | CA423431001 | USH2A | c.4494T>A (p.Pro1498=) | ClinVar gnomAD v4 |
1 | g.216175386G>A | CA1395701 | USH2A | c.4493C>T (p.Pro1498Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.216175386G>C | CA344863777 | USH2A | c.4493C>G (p.Pro1498Arg) | |
1 | g.216175386G= | CA1220588185 | USH2A | c.4493C= (p.Pro1498=) | |
1 | g.216175386G>T | CA344863778 | USH2A | c.4493C>A (p.Pro1498His) | gnomAD v4 |
1 | g.216175387G>A | CA344863781 | USH2A | c.4492C>T (p.Pro1498Ser) | ClinVar dbSNP |
1 | g.216175387G>C | CA344863780 | USH2A | c.4492C>G (p.Pro1498Ala) | |
1 | g.216175387G>T | CA344863779 | USH2A | c.4492C>A (p.Pro1498Thr) |