Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.216070193_216070203dup | CA2586968381 | USH2A | c.5950_5960dup (p.Tyr1987Ter) | gnomAD v4 |
1 | g.216070193T>A | CA344862088 | USH2A | c.5957A>T (p.Lys1986Met) | |
1 | g.216070193T>C | CA344862089 | USH2A | c.5957A>G (p.Lys1986Arg) | ClinVar dbSNP |
1 | g.216070193T>G | CA344862090 | USH2A | c.5957A>C (p.Lys1986Thr) | |
1 | g.216070194T>A | CA344862091 | USH2A | c.5956A>T (p.Lys1986Ter) | |
1 | g.216070194T>C | CA344862092 | USH2A | c.5956A>G (p.Lys1986Glu) | ClinVar |
1 | g.216070194T>G | CA344862093 | USH2A | c.5956A>C (p.Lys1986Gln) | |
1 | g.216070195C>A | CA344862094 | USH2A | c.5955G>T (p.Glu1985Asp) | |
1 | g.216070195C>G | CA344862095 | USH2A | c.5955G>C (p.Glu1985Asp) | |
1 | g.216070195C>T | CA423319804 | USH2A | c.5955G>A (p.Glu1985=) | |
1 | g.216070196T>A | CA344862096 | USH2A | c.5954A>T (p.Glu1985Val) | gnomAD v4 |
1 | g.216070196T>C | CA344862097 | USH2A | c.5954A>G (p.Glu1985Gly) | gnomAD v4 |
1 | g.216070196T>G | CA344862098 | USH2A | c.5954A>C (p.Glu1985Ala) | |
1 | g.216070197C>A | CA344862099 | USH2A | c.5953G>T (p.Glu1985Ter) | |
1 | g.216070197C= | CA1142346750 | USH2A | c.5953G= (p.Glu1985=) | |
1 | g.216070197C>G | CA344862100 | USH2A | c.5953G>C (p.Glu1985Gln) | ClinVar dbSNP |
1 | g.216070197C>T | CA1395291 | USH2A | c.5953G>A (p.Glu1985Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216070198A= | CA1220542803 | USH2A | c.5952T= (p.Ile1984=) | |
1 | g.216070198A>C | CA344862101 | USH2A | c.5952T>G (p.Ile1984Met) | |
1 | g.216070198A>G | CA1395292 | USH2A | c.5952T>C (p.Ile1984=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.216070198A>T | CA423319805 | USH2A | c.5952T>A (p.Ile1984=) | |
1 | g.216070199A= | CA1220542804 | USH2A | c.5951T= (p.Ile1984=) | |
1 | g.216070199A>C | CA344862102 | USH2A | c.5951T>G (p.Ile1984Ser) | |
1 | g.216070199A>G | CA344862103 | USH2A | c.5951T>C (p.Ile1984Thr) | dbSNP |
1 | g.216070199A>T | CA344862104 | USH2A | c.5951T>A (p.Ile1984Asn) | |
1 | g.216070200T>A | CA344862105 | USH2A | c.5950A>T (p.Ile1984Phe) | |
1 | g.216070200T>C | CA344862106 | USH2A | c.5950A>G (p.Ile1984Val) | gnomAD v4 |
1 | g.216070200T>G | CA344862107 | USH2A | c.5950A>C (p.Ile1984Leu) | |
1 | g.216070201T>A | CA423319806 | USH2A | c.5949A>T (p.Val1983=) | |
1 | g.216070201T>C | CA423319808 | USH2A | c.5949A>G (p.Val1983=) | |
1 | g.216070201T>G | CA423319807 | USH2A | c.5949A>C (p.Val1983=) | ClinVar gnomAD v4 |
1 | g.216070202A>C | CA344862108 | USH2A | c.5948T>G (p.Val1983Gly) | |
1 | g.216070202A>G | CA344862109 | USH2A | c.5948T>C (p.Val1983Ala) | |
1 | g.216070202A>T | CA344862110 | USH2A | c.5948T>A (p.Val1983Glu) | |
1 | g.216070203C>A | CA344862112 | USH2A | c.5947G>T (p.Val1983Leu) | |
1 | g.216070203C= | CA1144085789 | USH2A | c.5947G= (p.Val1983=) | |
1 | g.216070203C>G | CA344862111 | USH2A | c.5947G>C (p.Val1983Leu) | |
1 | g.216070203C>T | CA37476327 | USH2A | c.5947G>A (p.Val1983Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.216070204A>C | CA423319809 | USH2A | c.5946T>G (p.Gly1982=) | |
1 | g.216070204A>G | CA423319810 | USH2A | c.5946T>C (p.Gly1982=) | ClinVar gnomAD v4 |
1 | g.216070204A>T | CA423319811 | USH2A | c.5946T>A (p.Gly1982=) | |
1 | g.216070205C>A | CA37476343 | USH2A | c.5945G>T (p.Gly1982Val) | ClinVar dbSNP |
1 | g.216070205C= | CA1220542805 | USH2A | c.5945G= (p.Gly1982=) | |
1 | g.216070205C>G | CA344862113 | USH2A | c.5945G>C (p.Gly1982Ala) | |
1 | g.216070205C>T | CA1395293 | USH2A | c.5945G>A (p.Gly1982Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.216070206dup | CA2580062102 | USH2A | c.5945dup (p.Val1983CysfsTer3) | ClinVar |
1 | g.216070206C>A | CA344862114 | USH2A | c.5944G>T (p.Gly1982Cys) | dbSNP gnomAD v4 |
1 | g.216070206C>G | CA344862115 | USH2A | c.5944G>C (p.Gly1982Arg) | gnomAD v4 |
1 | g.216070206C>T | CA344862116 | USH2A | c.5944G>A (p.Gly1982Ser) | |
1 | g.216070207T>A | CA344862117 | USH2A | c.5943A>T (p.Arg1981Ser) |