Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.215994195_216004144del | CA915948956 | USH2A | c.6326-3582_6658-1028del | |
1 | g.215998943G>A | CA275221 | USH2A | c.6601C>T (p.Gln2201Ter) | ClinVar dbSNP |
1 | g.215998943G>C | CA344861045 | USH2A | c.6601C>G (p.Gln2201Glu) | |
1 | g.215998943G= | CA1220516439 | USH2A | c.6601C= (p.Gln2201=) | |
1 | g.215998943G>T | CA344861047 | USH2A | c.6601C>A (p.Gln2201Lys) | |
1 | g.215998944G>A | CA423319677 | USH2A | c.6600C>T (p.Phe2200=) | |
1 | g.215998944G>C | CA344861050 | USH2A | c.6600C>G (p.Phe2200Leu) | |
1 | g.215998944G>T | CA344861052 | USH2A | c.6600C>A (p.Phe2200Leu) | |
1 | g.215998945A>C | CA344861061 | USH2A | c.6599T>G (p.Phe2200Cys) | |
1 | g.215998945A>G | CA344861059 | USH2A | c.6599T>C (p.Phe2200Ser) | |
1 | g.215998945A>T | CA344861056 | USH2A | c.6599T>A (p.Phe2200Tyr) | |
1 | g.215998946A= | CA1220516445 | USH2A | c.6598T= (p.Phe2200=) | |
1 | g.215998946A>C | CA344861063 | USH2A | c.6598T>G (p.Phe2200Val) | |
1 | g.215998946A>G | CA1395097 | USH2A | c.6598T>C (p.Phe2200Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.215998946A>T | CA344861065 | USH2A | c.6598T>A (p.Phe2200Ile) | |
1 | g.215998947A= | CA1220516453 | USH2A | c.6597T= (p.Leu2199=) | |
1 | g.215998947A>C | CA423319678 | USH2A | c.6597T>G (p.Leu2199=) | |
1 | g.215998947A>G | CA423319679 | USH2A | c.6597T>C (p.Leu2199=) | |
1 | g.215998947A>T | CA423319680 | USH2A | c.6597T>A (p.Leu2199=) | ClinVar dbSNP |
1 | g.215998948A>C | CA344861068 | USH2A | c.6596T>G (p.Leu2199Arg) | |
1 | g.215998948A>G | CA344861070 | USH2A | c.6596T>C (p.Leu2199Pro) | |
1 | g.215998948A>T | CA344861072 | USH2A | c.6596T>A (p.Leu2199His) | |
1 | g.215998949del | CA2747727911 | USH2A | c.6595del (p.Leu2199PhefsTer30) | |
1 | g.215998949G>A | CA344861075 | USH2A | c.6595C>T (p.Leu2199Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215998949G>C | CA344861078 | USH2A | c.6595C>G (p.Leu2199Val) | |
1 | g.215998949G= | CA1220516456 | USH2A | c.6595C= (p.Leu2199=) | |
1 | g.215998949G>T | CA1395098 | USH2A | c.6595C>A (p.Leu2199Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215998950T>A | CA344861081 | USH2A | c.6594A>T (p.Glu2198Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.215998950T>C | CA423319681 | USH2A | c.6594A>G (p.Glu2198=) | |
1 | g.215998950T>G | CA344861083 | USH2A | c.6594A>C (p.Glu2198Asp) | COSMIC COSMIC |
1 | g.215998950T= | CA1220516461 | USH2A | c.6594A= (p.Glu2198=) | |
1 | g.215998951T>A | CA344861086 | USH2A | c.6593A>T (p.Glu2198Val) | |
1 | g.215998951T>C | CA344861088 | USH2A | c.6593A>G (p.Glu2198Gly) | |
1 | g.215998951T>G | CA344861090 | USH2A | c.6593A>C (p.Glu2198Ala) | |
1 | g.215998952C>A | CA1395099 | USH2A | c.6592G>T (p.Glu2198Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215998952C= | CA1143702547 | USH2A | c.6592G= (p.Glu2198=) | |
1 | g.215998952C>G | CA344861094 | USH2A | c.6592G>C (p.Glu2198Gln) | |
1 | g.215998952C>T | CA344861096 | USH2A | c.6592G>A (p.Glu2198Lys) | |
1 | g.215998953del | CA2650530765 | USH2A | c.6591del (p.Glu2198AsnfsTer?) | gnomAD v4 |
1 | g.215998953T>A | CA1395100 | USH2A | c.6591A>T (p.Thr2197=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
1 | g.215998953T>C | CA423319682 | USH2A | c.6591A>G (p.Thr2197=) | |
1 | g.215998953T>G | CA423319683 | USH2A | c.6591A>C (p.Thr2197=) | |
1 | g.215998953T= | CA1220516467 | USH2A | c.6591A= (p.Thr2197=) | |
1 | g.215998954G>A | CA179546 | USH2A | c.6590C>T (p.Thr2197Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.215998954G>C | CA344861102 | USH2A | c.6590C>G (p.Thr2197Arg) | |
1 | g.215998954G= | CA1141745851 | USH2A | c.6590C= (p.Thr2197=) | |
1 | g.215998954G>T | CA344861104 | USH2A | c.6590C>A (p.Thr2197Lys) | |
1 | g.215998955T>A | CA344861108 | USH2A | c.6589A>T (p.Thr2197Ser) | |
1 | g.215998955T>C | CA16602212 | USH2A | c.6589A>G (p.Thr2197Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.215998955T>G | CA344861109 | USH2A | c.6589A>C (p.Thr2197Pro) |