Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.64230699T>A | CA364391370 | EYS | c.6317A>T (p.Asp2106Val) | |
6 | g.64230699T>C | CA364391371 | EYS | c.6317A>G (p.Asp2106Gly) | dbSNP |
6 | g.64230699T>G | CA364391372 | EYS | c.6317A>C (p.Asp2106Ala) | |
6 | g.64230699T= | CA1633626665 | EYS | c.6317A= (p.Asp2106=) | |
6 | g.64230700C>A | CA3876930 | EYS | c.6316G>T (p.Asp2106Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230700C= | CA1633626666 | EYS | c.6316G= (p.Asp2106=) | |
6 | g.64230700C>G | CA364391373 | EYS | c.6316G>C (p.Asp2106His) | |
6 | g.64230700C>T | CA364391374 | EYS | c.6316G>A (p.Asp2106Asn) | |
6 | g.64230701C>A | CA364391375 | EYS | c.6315G>T (p.Gln2105His) | gnomAD v4 COSMIC |
6 | g.64230701C>G | CA364391376 | EYS | c.6315G>C (p.Gln2105His) | |
6 | g.64230701C>T | CA450758816 | EYS | c.6315G>A (p.Gln2105=) | gnomAD v4 |
6 | g.64230702T>A | CA364391377 | EYS | c.6314A>T (p.Gln2105Leu) | gnomAD v4 |
6 | g.64230702T>C | CA364391378 | EYS | c.6314A>G (p.Gln2105Arg) | |
6 | g.64230702T>G | CA364391379 | EYS | c.6314A>C (p.Gln2105Pro) | |
6 | g.64230703G>A | CA364391380 | EYS | c.6313C>T (p.Gln2105Ter) | ClinVar dbSNP |
6 | g.64230703G>C | CA364391381 | EYS | c.6313C>G (p.Gln2105Glu) | gnomAD v4 |
6 | g.64230703G= | CA1633626667 | EYS | c.6313C= (p.Gln2105=) | |
6 | g.64230703G>T | CA364391382 | EYS | c.6313C>A (p.Gln2105Lys) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230704C>A | CA364391383 | EYS | c.6312G>T (p.Gln2104His) | |
6 | g.64230704C>G | CA364391384 | EYS | c.6312G>C (p.Gln2104His) | |
6 | g.64230704C>T | CA450758817 | EYS | c.6312G>A (p.Gln2104=) | gnomAD v4 |
6 | g.64230705T>A | CA364391385 | EYS | c.6311A>T (p.Gln2104Leu) | |
6 | g.64230705T>C | CA364391387 | EYS | c.6311A>G (p.Gln2104Arg) | |
6 | g.64230705T>G | CA364391386 | EYS | c.6311A>C (p.Gln2104Pro) | |
6 | g.64230706G>A | CA364391388 | EYS | c.6310C>T (p.Gln2104Ter) | |
6 | g.64230706G>C | CA364391389 | EYS | c.6310C>G (p.Gln2104Glu) | |
6 | g.64230706G>T | CA364391390 | EYS | c.6310C>A (p.Gln2104Lys) | |
6 | g.64230707G>A | CA450758818 | EYS | c.6309C>T (p.Cys2103=) | |
6 | g.64230707G>C | CA364391391 | EYS | c.6309C>G (p.Cys2103Trp) | |
6 | g.64230707G>T | CA364391392 | EYS | c.6309C>A (p.Cys2103Ter) | |
6 | g.64230707_64230708delinsGC | CA1633626668 | EYS | c.6308_6309delinsGC (p.Cys2103=) | |
6 | g.64230708del | CA568119118 | EYS | c.6308del (p.Cys2103SerfsTer21) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230708C>A | CA364391393 | EYS | c.6308G>T (p.Cys2103Phe) | |
6 | g.64230708C>G | CA364391394 | EYS | c.6308G>C (p.Cys2103Ser) | |
6 | g.64230708C>T | CA364391395 | EYS | c.6308G>A (p.Cys2103Tyr) | |
6 | g.64230709A>C | CA364391396 | EYS | c.6307T>G (p.Cys2103Gly) | |
6 | g.64230709A>G | CA364391397 | EYS | c.6307T>C (p.Cys2103Arg) | |
6 | g.64230709A>T | CA364391398 | EYS | c.6307T>A (p.Cys2103Ser) | |
6 | g.64230710C>A | CA450758819 | EYS | c.6306G>T (p.Val2102=) | |
6 | g.64230710C= | CA1633626670 | EYS | c.6306G= (p.Val2102=) | |
6 | g.64230710C>G | CA450758820 | EYS | c.6306G>C (p.Val2102=) | |
6 | g.64230710C>T | CA450758821 | EYS | c.6306G>A (p.Val2102=) | ClinVar dbSNP gnomAD v4 |
6 | g.64230710_64230725delinsCACAGAGGGTGCTGCA | CA1633626669 | EYS | c.6291_6306delinsTGCAGCACCCTCTGTG (p.Val2097=) | |
6 | g.64230711A= | CA1633626671 | EYS | c.6305T= (p.Val2102=) | |
6 | g.64230711A>C | CA364391401 | EYS | c.6305T>G (p.Val2102Gly) | |
6 | g.64230711A>G | CA364391400 | EYS | c.6305T>C (p.Val2102Ala) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230711A>T | CA364391399 | EYS | c.6305T>A (p.Val2102Glu) | |
6 | g.64230719_64230733del | CA568119119 | EYS | c.6291_6305del (p.Ala2098_Val2102del) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230712C>A | CA364391402 | EYS | c.6304G>T (p.Val2102Leu) | |
6 | g.64230712C= | CA1633626672 | EYS | c.6304G= (p.Val2102=) |