Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.63721409A>C | CA364384348 | EYS,PHF3 | c.*7701A>C (n.*7701A>C) c.8622T>G (p.Cys2874Trp) c.8685T>G (p.Cys2895Trp) c.363+10047A>C | gnomAD v4 |
6 | g.63721409A>G | CA450862638 | EYS,PHF3 | c.*7701A>G (n.*7701A>G) c.8622T>C (p.Cys2874=) c.8685T>C (p.Cys2895=) c.363+10047A>G | |
6 | g.63721409A>T | CA364384349 | EYS,PHF3 | c.*7701A>T (n.*7701A>T) c.8622T>A (p.Cys2874Ter) c.8685T>A (p.Cys2895Ter) c.363+10047A>T | |
6 | g.63721410C>A | CA364384350 | EYS,PHF3 | c.*7702C>A (n.*7702C>A) c.8621G>T (p.Cys2874Phe) c.8684G>T (p.Cys2895Phe) c.363+10048C>A | |
6 | g.63721410C= | CA1633381853 | EYS,PHF3 | c.*7702C= (n.*7702C=) c.8621G= (p.Cys2874=) c.8684G= (p.Cys2895=) c.363+10048C= | |
6 | g.63721410C>G | CA364384351 | EYS,PHF3 | c.*7702C>G (n.*7702C>G) c.8621G>C (p.Cys2874Ser) c.8684G>C (p.Cys2895Ser) c.363+10048C>G | |
6 | g.63721410C>T | CA364384352 | EYS,PHF3 | c.*7702C>T (n.*7702C>T) c.8621G>A (p.Cys2874Tyr) c.8684G>A (p.Cys2895Tyr) c.363+10048C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721411A= | CA1633381855 | EYS,PHF3 | c.*7703A= (n.*7703A=) c.8620T= (p.Cys2874=) c.8683T= (p.Cys2895=) c.363+10049A= | |
6 | g.63721411A>C | CA364384353 | EYS,PHF3 | c.*7703A>C (n.*7703A>C) c.8620T>G (p.Cys2874Gly) c.8683T>G (p.Cys2895Gly) c.363+10049A>C | |
6 | g.63721411A>G | CA364384354 | EYS,PHF3 | c.*7703A>G (n.*7703A>G) c.8620T>C (p.Cys2874Arg) c.8683T>C (p.Cys2895Arg) c.363+10049A>G | ClinVar dbSNP gnomAD v4 |
6 | g.63721411A>T | CA364384355 | EYS,PHF3 | c.*7703A>T (n.*7703A>T) c.8620T>A (p.Cys2874Ser) c.8683T>A (p.Cys2895Ser) c.363+10049A>T | |
6 | g.63721412G>A | CA450862643 | EYS,PHF3 | c.*7704G>A (n.*7704G>A) c.8619C>T (p.Asp2873=) c.8682C>T (p.Asp2894=) c.363+10050G>A | |
6 | g.63721412G>C | CA364384356 | EYS,PHF3 | c.*7704G>C (n.*7704G>C) c.8619C>G (p.Asp2873Glu) c.8682C>G (p.Asp2894Glu) c.363+10050G>C | |
6 | g.63721412G>T | CA364384357 | EYS,PHF3 | c.*7704G>T (n.*7704G>T) c.8619C>A (p.Asp2873Glu) c.8682C>A (p.Asp2894Glu) c.363+10050G>T | |
6 | g.63721413T>A | CA364384358 | EYS,PHF3 | c.*7705T>A (n.*7705T>A) c.8618A>T (p.Asp2873Val) c.8681A>T (p.Asp2894Val) c.363+10051T>A | |
6 | g.63721413T>C | CA364384359 | EYS,PHF3 | c.*7705T>C (n.*7705T>C) c.8618A>G (p.Asp2873Gly) c.8681A>G (p.Asp2894Gly) c.363+10051T>C | ClinVar dbSNP gnomAD v4 |
6 | g.63721413T>G | CA364384360 | EYS,PHF3 | c.*7705T>G (n.*7705T>G) c.8618A>C (p.Asp2873Ala) c.8681A>C (p.Asp2894Ala) c.363+10051T>G | gnomAD v4 |
6 | g.63721413T= | CA1633381858 | EYS,PHF3 | c.*7705T= (n.*7705T=) c.8618A= (p.Asp2873=) c.8681A= (p.Asp2894=) c.363+10051T= | |
6 | g.63721414C>A | CA364384363 | EYS,PHF3 | c.*7706C>A (n.*7706C>A) c.8617G>T (p.Asp2873Tyr) c.8680G>T (p.Asp2894Tyr) c.363+10052C>A | |
6 | g.63721414C= | CA1633381860 | EYS,PHF3 | c.*7706C= (n.*7706C=) c.8617G= (p.Asp2873=) c.8680G= (p.Asp2894=) c.363+10052C= | |
6 | g.63721414C>G | CA364384361 | EYS,PHF3 | c.*7706C>G (n.*7706C>G) c.8617G>C (p.Asp2873His) c.8680G>C (p.Asp2894His) c.363+10052C>G | gnomAD v4 |
6 | g.63721414C>T | CA364384362 | EYS,PHF3 | c.*7706C>T (n.*7706C>T) c.8617G>A (p.Asp2873Asn) c.8680G>A (p.Asp2894Asn) c.363+10052C>T | dbSNP |
6 | g.63721415_63721416del | CA2573141297 | EYS,PHF3 | c.*7707_*7708del (n.*7707_*7708del) c.8616_8617del (p.Asp2873LeufsTer2) c.8679_8680del (p.Asp2894LeufsTer2) c.363+10053_363+10054del | ClinVar dbSNP gnomAD v4 |
6 | g.63721415A>C | CA450862649 | EYS,PHF3 | c.*7707A>C (n.*7707A>C) c.8616T>G (p.Gly2872=) c.8679T>G (p.Gly2893=) c.363+10053A>C | |
6 | g.63721415A>G | CA450862650 | EYS,PHF3 | c.*7707A>G (n.*7707A>G) c.8616T>C (p.Gly2872=) c.8679T>C (p.Gly2893=) c.363+10053A>G | gnomAD v4 |
6 | g.63721415A>T | CA450862653 | EYS,PHF3 | c.*7707A>T (n.*7707A>T) c.8616T>A (p.Gly2872=) c.8679T>A (p.Gly2893=) c.363+10053A>T | |
6 | g.63721416C>A | CA364384364 | EYS,PHF3 | c.*7708C>A (n.*7708C>A) c.8615G>T (p.Gly2872Val) c.8678G>T (p.Gly2893Val) c.363+10054C>A | |
6 | g.63721416C>G | CA364384365 | EYS,PHF3 | c.*7708C>G (n.*7708C>G) c.8615G>C (p.Gly2872Ala) c.8678G>C (p.Gly2893Ala) c.363+10054C>G | |
6 | g.63721416C>T | CA364384366 | EYS,PHF3 | c.*7708C>T (n.*7708C>T) c.8615G>A (p.Gly2872Asp) c.8678G>A (p.Gly2893Asp) c.363+10054C>T | ClinVar gnomAD v4 |
6 | g.63721417C>A | CA364384367 | EYS,PHF3 | c.*7709C>A (n.*7709C>A) c.8614G>T (p.Gly2872Cys) c.8677G>T (p.Gly2893Cys) c.363+10055C>A | |
6 | g.63721417C>G | CA364384368 | EYS,PHF3 | c.*7709C>G (n.*7709C>G) c.8614G>C (p.Gly2872Arg) c.8677G>C (p.Gly2893Arg) c.363+10055C>G | |
6 | g.63721417C>T | CA364384369 | EYS,PHF3 | c.*7709C>T (n.*7709C>T) c.8614G>A (p.Gly2872Ser) c.8677G>A (p.Gly2893Ser) c.363+10055C>T | ClinVar gnomAD v4 |
6 | g.63721418T>A | CA450862664 | EYS,PHF3 | c.*7710T>A (n.*7710T>A) c.8613A>T (p.Val2871=) c.8676A>T (p.Val2892=) c.363+10056T>A | |
6 | g.63721418T>C | CA450862665 | EYS,PHF3 | c.*7710T>C (n.*7710T>C) c.8613A>G (p.Val2871=) c.8676A>G (p.Val2892=) c.363+10056T>C | |
6 | g.63721418T>G | CA450862666 | EYS,PHF3 | c.*7710T>G (n.*7710T>G) c.8613A>C (p.Val2871=) c.8676A>C (p.Val2892=) c.363+10056T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721418T= | CA1633381862 | EYS,PHF3 | c.*7710T= (n.*7710T=) c.8613A= (p.Val2871=) c.8676A= (p.Val2892=) c.363+10056T= | |
6 | g.63721419A= | CA1633381864 | EYS,PHF3 | c.*7711A= (n.*7711A=) c.8612T= (p.Val2871=) c.8675T= (p.Val2892=) c.363+10057A= | |
6 | g.63721419A>C | CA364384370 | EYS,PHF3 | c.*7711A>C (n.*7711A>C) c.8612T>G (p.Val2871Gly) c.8675T>G (p.Val2892Gly) c.363+10057A>C | |
6 | g.63721419A>G | CA364384371 | EYS,PHF3 | c.*7711A>G (n.*7711A>G) c.8612T>C (p.Val2871Ala) c.8675T>C (p.Val2892Ala) c.363+10057A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721419A>T | CA364384372 | EYS,PHF3 | c.*7711A>T (n.*7711A>T) c.8612T>A (p.Val2871Glu) c.8675T>A (p.Val2892Glu) c.363+10057A>T | |
6 | g.63721420C>A | CA364384373 | EYS,PHF3 | c.*7712C>A (n.*7712C>A) c.8611G>T (p.Val2871Leu) c.8674G>T (p.Val2892Leu) c.363+10058C>A | dbSNP gnomAD v4 |
6 | g.63721420C= | CA1633381867 | EYS,PHF3 | c.*7712C= (n.*7712C=) c.8611G= (p.Val2871=) c.8674G= (p.Val2892=) c.363+10058C= | |
6 | g.63721420C>G | CA364384374 | EYS,PHF3 | c.*7712C>G (n.*7712C>G) c.8611G>C (p.Val2871Leu) c.8674G>C (p.Val2892Leu) c.363+10058C>G | |
6 | g.63721420C>T | CA140236839 | EYS,PHF3 | c.*7712C>T (n.*7712C>T) c.8611G>A (p.Val2871Ile) c.8674G>A (p.Val2892Ile) c.363+10058C>T | ClinVar dbSNP gnomAD v4 |
6 | g.63721421A>C | CA364384375 | EYS,PHF3 | c.*7713A>C (n.*7713A>C) c.8610T>G (p.Asn2870Lys) c.8673T>G (p.Asn2891Lys) c.363+10059A>C | |
6 | g.63721421A>G | CA450862236 | EYS,PHF3 | c.*7713A>G (n.*7713A>G) c.8610T>C (p.Asn2870=) c.8673T>C (p.Asn2891=) c.363+10059A>G | |
6 | g.63721421A>T | CA364384376 | EYS,PHF3 | c.*7713A>T (n.*7713A>T) c.8610T>A (p.Asn2870Lys) c.8673T>A (p.Asn2891Lys) c.363+10059A>T | |
6 | g.63721422T>A | CA364384377 | EYS,PHF3 | c.*7714T>A (n.*7714T>A) c.8609A>T (p.Asn2870Ile) c.8672A>T (p.Asn2891Ile) c.363+10060T>A | |
6 | g.63721422T>C | CA364384378 | EYS,PHF3 | c.*7714T>C (n.*7714T>C) c.8609A>G (p.Asn2870Ser) c.8672A>G (p.Asn2891Ser) c.363+10060T>C | gnomAD v4 |
6 | g.63721422T>G | CA364384379 | EYS,PHF3 | c.*7714T>G (n.*7714T>G) c.8609A>C (p.Asn2870Thr) c.8672A>C (p.Asn2891Thr) c.363+10060T>G | |
6 | g.63721423T>A | CA364384380 | EYS,PHF3 | c.*7715T>A (n.*7715T>A) c.8608A>T (p.Asn2870Tyr) c.8671A>T (p.Asn2891Tyr) c.363+10061T>A | |
6 | g.63721423T>C | CA364384381 | EYS,PHF3 | c.*7715T>C (n.*7715T>C) c.8608A>G (p.Asn2870Asp) c.8671A>G (p.Asn2891Asp) c.363+10061T>C | |
6 | g.63721423T>G | CA364384382 | EYS,PHF3 | c.*7715T>G (n.*7715T>G) c.8608A>C (p.Asn2870His) c.8671A>C (p.Asn2891His) c.363+10061T>G | |
6 | g.63721424T>A | CA450862237 | EYS,PHF3 | c.*7716T>A (n.*7716T>A) c.8607A>T (p.Ser2869=) c.8670A>T (p.Ser2890=) c.363+10062T>A | |
6 | g.63721424T>C | CA450862238 | EYS,PHF3 | c.*7716T>C (n.*7716T>C) c.8607A>G (p.Ser2869=) c.8670A>G (p.Ser2890=) c.363+10062T>C | |
6 | g.63721424T>G | CA450862239 | EYS,PHF3 | c.*7716T>G (n.*7716T>G) c.8607A>C (p.Ser2869=) c.8670A>C (p.Ser2890=) c.363+10062T>G | |
6 | g.63721425G>A | CA364384383 | EYS,PHF3 | c.*7717G>A (n.*7717G>A) c.8606C>T (p.Ser2869Leu) c.8669C>T (p.Ser2890Leu) c.363+10063G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721425G>C | CA140236840 | EYS,PHF3 | c.*7717G>C (n.*7717G>C) c.8606C>G (p.Ser2869Ter) c.8669C>G (p.Ser2890Ter) c.363+10063G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721425G= | CA1633381869 | EYS,PHF3 | c.*7717G= (n.*7717G=) c.8606C= (p.Ser2869=) c.8669C= (p.Ser2890=) c.363+10063G= | |
6 | g.63721425G>T | CA364384384 | EYS,PHF3 | c.*7717G>T (n.*7717G>T) c.8606C>A (p.Ser2869Ter) c.8669C>A (p.Ser2890Ter) c.363+10063G>T | |
6 | g.63721426A>C | CA364384385 | EYS,PHF3 | c.*7718A>C (n.*7718A>C) c.8605T>G (p.Ser2869Ala) c.8668T>G (p.Ser2890Ala) c.363+10064A>C | |
6 | g.63721426A>G | CA364384386 | EYS,PHF3 | c.*7718A>G (n.*7718A>G) c.8605T>C (p.Ser2869Pro) c.8668T>C (p.Ser2890Pro) c.363+10064A>G | |
6 | g.63721426A>T | CA364384387 | EYS,PHF3 | c.*7718A>T (n.*7718A>T) c.8605T>A (p.Ser2869Thr) c.8668T>A (p.Ser2890Thr) c.363+10064A>T | |
6 | g.63721427G>A | CA450862240 | EYS,PHF3 | c.*7719G>A (n.*7719G>A) c.8604C>T (p.Gly2868=) c.8667C>T (p.Gly2889=) c.363+10065G>A | |
6 | g.63721427G>C | CA450862241 | EYS,PHF3 | c.*7719G>C (n.*7719G>C) c.8604C>G (p.Gly2868=) c.8667C>G (p.Gly2889=) c.363+10065G>C | |
6 | g.63721427G>T | CA450862242 | EYS,PHF3 | c.*7719G>T (n.*7719G>T) c.8604C>A (p.Gly2868=) c.8667C>A (p.Gly2889=) c.363+10065G>T | |
6 | g.63721428C>A | CA364384389 | EYS,PHF3 | c.*7720C>A (n.*7720C>A) c.8603G>T (p.Gly2868Val) c.8666G>T (p.Gly2889Val) c.363+10066C>A | |
6 | g.63721428C>G | CA364384390 | EYS,PHF3 | c.*7720C>G (n.*7720C>G) c.8603G>C (p.Gly2868Ala) c.8666G>C (p.Gly2889Ala) c.363+10066C>G | |
6 | g.63721428C>T | CA364384388 | EYS,PHF3 | c.*7720C>T (n.*7720C>T) c.8603G>A (p.Gly2868Asp) c.8666G>A (p.Gly2889Asp) c.363+10066C>T | |
6 | g.63721429C>A | CA364384391 | EYS,PHF3 | c.*7721C>A (n.*7721C>A) c.8602G>T (p.Gly2868Cys) c.8665G>T (p.Gly2889Cys) c.363+10067C>A | |
6 | g.63721429C>G | CA364384392 | EYS,PHF3 | c.*7721C>G (n.*7721C>G) c.8602G>C (p.Gly2868Arg) c.8665G>C (p.Gly2889Arg) c.363+10067C>G | gnomAD v4 |
6 | g.63721429C>T | CA364384393 | EYS,PHF3 | c.*7721C>T (n.*7721C>T) c.8602G>A (p.Gly2868Ser) c.8665G>A (p.Gly2889Ser) c.363+10067C>T | |
6 | g.63721430A= | CA1633381871 | EYS,PHF3 | c.*7722A= (n.*7722A=) c.8601T= (p.Gly2867=) c.8664T= (p.Gly2888=) c.363+10068A= | |
6 | g.63721430A>C | CA450862243 | EYS,PHF3 | c.*7722A>C (n.*7722A>C) c.8601T>G (p.Gly2867=) c.8664T>G (p.Gly2888=) c.363+10068A>C | |
6 | g.63721430A>G | CA450862244 | EYS,PHF3 | c.*7722A>G (n.*7722A>G) c.8601T>C (p.Gly2867=) c.8664T>C (p.Gly2888=) c.363+10068A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721430A>T | CA450862245 | EYS,PHF3 | c.*7722A>T (n.*7722A>T) c.8601T>A (p.Gly2867=) c.8664T>A (p.Gly2888=) c.363+10068A>T | |
6 | g.63721431C>A | CA364384394 | EYS,PHF3 | c.*7723C>A (n.*7723C>A) c.8600G>T (p.Gly2867Val) c.8663G>T (p.Gly2888Val) c.363+10069C>A | dbSNP gnomAD v4 |
6 | g.63721431C= | CA1633381873 | EYS,PHF3 | c.*7723C= (n.*7723C=) c.8600G= (p.Gly2867=) c.8663G= (p.Gly2888=) c.363+10069C= | |
6 | g.63721431C>G | CA364384395 | EYS,PHF3 | c.*7723C>G (n.*7723C>G) c.8600G>C (p.Gly2867Ala) c.8663G>C (p.Gly2888Ala) c.363+10069C>G | |
6 | g.63721431C>T | CA364384396 | EYS,PHF3 | c.*7723C>T (n.*7723C>T) c.8600G>A (p.Gly2867Asp) c.8663G>A (p.Gly2888Asp) c.363+10069C>T | dbSNP gnomAD v4 |
6 | g.63721432del | CA2739289894 | EYS,PHF3 | c.*7724del (n.*7724del) c.8600del (p.Gly2867ValfsTer5) c.8663del (p.Gly2888ValfsTer5) c.363+10070del | |
6 | g.63721432C>A | CA364384397 | EYS,PHF3 | c.*7724C>A (n.*7724C>A) c.8599G>T (p.Gly2867Cys) c.8662G>T (p.Gly2888Cys) c.363+10070C>A | gnomAD v4 |
6 | g.63721432C= | CA1633381877 | EYS,PHF3 | c.*7724C= (n.*7724C=) c.8599G= (p.Gly2867=) c.8662G= (p.Gly2888=) c.363+10070C= | |
6 | g.63721432C>G | CA364384399 | EYS,PHF3 | c.*7724C>G (n.*7724C>G) c.8599G>C (p.Gly2867Arg) c.8662G>C (p.Gly2888Arg) c.363+10070C>G | ClinVar dbSNP gnomAD v4 |
6 | g.63721432C>T | CA364384398 | EYS,PHF3 | c.*7724C>T (n.*7724C>T) c.8599G>A (p.Gly2867Ser) c.8662G>A (p.Gly2888Ser) c.363+10070C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721432_63721433delinsCT | CA1633381876 | EYS,PHF3 | c.*7724_*7725delinsCT (n.*7724_*7725delinsCT) c.8598_8599delinsAG (p.Lys2866=) c.8661_8662delinsAG (p.Lys2887=) c.363+10070_363+10071delinsCT | |
6 | g.63721433T>A | CA364384400 | EYS,PHF3 | c.*7725T>A (n.*7725T>A) c.8598A>T (p.Lys2866Asn) c.8661A>T (p.Lys2887Asn) c.363+10071T>A | |
6 | g.63721433T>C | CA450862246 | EYS,PHF3 | c.*7725T>C (n.*7725T>C) c.8598A>G (p.Lys2866=) c.8661A>G (p.Lys2887=) c.363+10071T>C | |
6 | g.63721433T>G | CA364384401 | EYS,PHF3 | c.*7725T>G (n.*7725T>G) c.8598A>C (p.Lys2866Asn) c.8661A>C (p.Lys2887Asn) c.363+10071T>G | |
6 | g.63721436del | CA140236841 | EYS,PHF3 | c.*7728del (n.*7728del) c.8598del (p.Gly2867ValfsTer5) c.8661del (p.Gly2888ValfsTer5) c.363+10074del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721434T>A | CA364384402 | EYS,PHF3 | c.*7726T>A (n.*7726T>A) c.8597A>T (p.Lys2866Ile) c.8660A>T (p.Lys2887Ile) c.363+10072T>A | |
6 | g.63721434T>C | CA364384403 | EYS,PHF3 | c.*7726T>C (n.*7726T>C) c.8597A>G (p.Lys2866Arg) c.8660A>G (p.Lys2887Arg) c.363+10072T>C | gnomAD v4 |
6 | g.63721434T>G | CA364384404 | EYS,PHF3 | c.*7726T>G (n.*7726T>G) c.8597A>C (p.Lys2866Thr) c.8660A>C (p.Lys2887Thr) c.363+10072T>G | |
6 | g.63721435T>A | CA364384406 | EYS,PHF3 | c.*7727T>A (n.*7727T>A) c.8596A>T (p.Lys2866Ter) c.8659A>T (p.Lys2887Ter) c.363+10073T>A | ClinVar dbSNP gnomAD v4 |
6 | g.63721435T>C | CA364384407 | EYS,PHF3 | c.*7727T>C (n.*7727T>C) c.8596A>G (p.Lys2866Glu) c.8659A>G (p.Lys2887Glu) c.363+10073T>C | |
6 | g.63721435T>G | CA364384405 | EYS,PHF3 | c.*7727T>G (n.*7727T>G) c.8596A>C (p.Lys2866Gln) c.8659A>C (p.Lys2887Gln) c.363+10073T>G | |
6 | g.63721436T>A | CA450862247 | EYS,PHF3 | c.*7728T>A (n.*7728T>A) c.8595A>T (p.Ala2865=) c.8658A>T (p.Ala2886=) c.363+10074T>A | |
6 | g.63721436T>C | CA450862248 | EYS,PHF3 | c.*7728T>C (n.*7728T>C) c.8595A>G (p.Ala2865=) c.8658A>G (p.Ala2886=) c.363+10074T>C | |
6 | g.63721436T>G | CA450862249 | EYS,PHF3 | c.*7728T>G (n.*7728T>G) c.8595A>C (p.Ala2865=) c.8658A>C (p.Ala2886=) c.363+10074T>G | |
6 | g.63721437G>A | CA364384408 | EYS,PHF3 | c.*7729G>A (n.*7729G>A) c.8594C>T (p.Ala2865Val) c.8657C>T (p.Ala2886Val) c.363+10075G>A | |
6 | g.63721437G>C | CA364384410 | EYS,PHF3 | c.*7729G>C (n.*7729G>C) c.8594C>G (p.Ala2865Gly) c.8657C>G (p.Ala2886Gly) c.363+10075G>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721437G= | CA1633381882 | EYS,PHF3 | c.*7729G= (n.*7729G=) c.8594C= (p.Ala2865=) c.8657C= (p.Ala2886=) c.363+10075G= | |
6 | g.63721437G>T | CA364384409 | EYS,PHF3 | c.*7729G>T (n.*7729G>T) c.8594C>A (p.Ala2865Glu) c.8657C>A (p.Ala2886Glu) c.363+10075G>T | |
6 | g.63721438C>A | CA364384411 | EYS,PHF3 | c.*7730C>A (n.*7730C>A) c.8593G>T (p.Ala2865Ser) c.8656G>T (p.Ala2886Ser) c.363+10076C>A | |
6 | g.63721438C>G | CA364384412 | EYS,PHF3 | c.*7730C>G (n.*7730C>G) c.8593G>C (p.Ala2865Pro) c.8656G>C (p.Ala2886Pro) c.363+10076C>G | |
6 | g.63721438C>T | CA364384413 | EYS,PHF3 | c.*7730C>T (n.*7730C>T) c.8593G>A (p.Ala2865Thr) c.8656G>A (p.Ala2886Thr) c.363+10076C>T | ClinVar |
6 | g.63721439T>A | CA450862250 | EYS,PHF3 | c.*7731T>A (n.*7731T>A) c.8592A>T (p.Gly2864=) c.8655A>T (p.Gly2885=) c.363+10077T>A | |
6 | g.63721439T>C | CA450862251 | EYS,PHF3 | c.*7731T>C (n.*7731T>C) c.8592A>G (p.Gly2864=) c.8655A>G (p.Gly2885=) c.363+10077T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721439T>G | CA450862252 | EYS,PHF3 | c.*7731T>G (n.*7731T>G) c.8592A>C (p.Gly2864=) c.8655A>C (p.Gly2885=) c.363+10077T>G | |
6 | g.63721439T= | CA1633381884 | EYS,PHF3 | c.*7731T= (n.*7731T=) c.8592A= (p.Gly2864=) c.8655A= (p.Gly2885=) c.363+10077T= | |
6 | g.63721439_63721446del | CA2695206720 | EYS,PHF3 | c.*7731_*7738del (n.*7731_*7738del) c.8585_8592del (p.Glu2862GlyfsTer9) c.8648_8655del (p.Glu2883GlyfsTer9) c.363+10077_363+10084del | |
6 | g.63721440C>A | CA364384414 | EYS,PHF3 | c.*7732C>A (n.*7732C>A) c.8591G>T (p.Gly2864Val) c.8654G>T (p.Gly2885Val) c.363+10078C>A | |
6 | g.63721440C>G | CA364384415 | EYS,PHF3 | c.*7732C>G (n.*7732C>G) c.8591G>C (p.Gly2864Ala) c.8654G>C (p.Gly2885Ala) c.363+10078C>G | |
6 | g.63721440C>T | CA364384416 | EYS,PHF3 | c.*7732C>T (n.*7732C>T) c.8591G>A (p.Gly2864Glu) c.8654G>A (p.Gly2885Glu) c.363+10078C>T | gnomAD v4 |
6 | g.63721441C>A | CA364384417 | EYS,PHF3 | c.*7733C>A (n.*7733C>A) c.8590G>T (p.Gly2864Ter) c.8653G>T (p.Gly2885Ter) c.363+10079C>A | ClinVar dbSNP gnomAD v4 |
6 | g.63721441C= | CA1633381886 | EYS,PHF3 | c.*7733C= (n.*7733C=) c.8590G= (p.Gly2864=) c.8653G= (p.Gly2885=) c.363+10079C= | |
6 | g.63721441C>G | CA364384418 | EYS,PHF3 | c.*7733C>G (n.*7733C>G) c.8590G>C (p.Gly2864Arg) c.8653G>C (p.Gly2885Arg) c.363+10079C>G | |
6 | g.63721441C>T | CA364384419 | EYS,PHF3 | c.*7733C>T (n.*7733C>T) c.8590G>A (p.Gly2864Arg) c.8653G>A (p.Gly2885Arg) c.363+10079C>T | |
6 | g.63721442A>C | CA364384420 | EYS,PHF3 | c.*7734A>C (n.*7734A>C) c.8589T>G (p.Phe2863Leu) c.8652T>G (p.Phe2884Leu) c.363+10080A>C | |
6 | g.63721442A>G | CA450862253 | EYS,PHF3 | c.*7734A>G (n.*7734A>G) c.8589T>C (p.Phe2863=) c.8652T>C (p.Phe2884=) c.363+10080A>G | |
6 | g.63721442A>T | CA364384421 | EYS,PHF3 | c.*7734A>T (n.*7734A>T) c.8589T>A (p.Phe2863Leu) c.8652T>A (p.Phe2884Leu) c.363+10080A>T | |
6 | g.63721443A>C | CA364384424 | EYS,PHF3 | c.*7735A>C (n.*7735A>C) c.8588T>G (p.Phe2863Cys) c.8651T>G (p.Phe2884Cys) c.363+10081A>C | |
6 | g.63721443A>G | CA364384423 | EYS,PHF3 | c.*7735A>G (n.*7735A>G) c.8588T>C (p.Phe2863Ser) c.8651T>C (p.Phe2884Ser) c.363+10081A>G | gnomAD v4 |
6 | g.63721443A>T | CA364384422 | EYS,PHF3 | c.*7735A>T (n.*7735A>T) c.8588T>A (p.Phe2863Tyr) c.8651T>A (p.Phe2884Tyr) c.363+10081A>T | |
6 | g.63721444A= | CA1633381889 | EYS,PHF3 | c.*7736A= (n.*7736A=) c.8587T= (p.Phe2863=) c.8650T= (p.Phe2884=) c.363+10082A= | |
6 | g.63721444A>C | CA364384425 | EYS,PHF3 | c.*7736A>C (n.*7736A>C) c.8587T>G (p.Phe2863Val) c.8650T>G (p.Phe2884Val) c.363+10082A>C | |
6 | g.63721444A>G | CA140236842 | EYS,PHF3 | c.*7736A>G (n.*7736A>G) c.8587T>C (p.Phe2863Leu) c.8650T>C (p.Phe2884Leu) c.363+10082A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721444A>T | CA364384426 | EYS,PHF3 | c.*7736A>T (n.*7736A>T) c.8587T>A (p.Phe2863Ile) c.8650T>A (p.Phe2884Ile) c.363+10082A>T | |
6 | g.63721445T>A | CA364384427 | EYS,PHF3 | c.*7737T>A (n.*7737T>A) c.8586A>T (p.Glu2862Asp) c.8649A>T (p.Glu2883Asp) c.363+10083T>A | |
6 | g.63721445T>C | CA450862254 | EYS,PHF3 | c.*7737T>C (n.*7737T>C) c.8586A>G (p.Glu2862=) c.8649A>G (p.Glu2883=) c.363+10083T>C | |
6 | g.63721445T>G | CA364384428 | EYS,PHF3 | c.*7737T>G (n.*7737T>G) c.8586A>C (p.Glu2862Asp) c.8649A>C (p.Glu2883Asp) c.363+10083T>G | |
6 | g.63721446T>A | CA364384429 | EYS,PHF3 | c.*7738T>A (n.*7738T>A) c.8585A>T (p.Glu2862Val) c.8648A>T (p.Glu2883Val) c.363+10084T>A | |
6 | g.63721446T>C | CA364384430 | EYS,PHF3 | c.*7738T>C (n.*7738T>C) c.8585A>G (p.Glu2862Gly) c.8648A>G (p.Glu2883Gly) c.363+10084T>C | |
6 | g.63721446T>G | CA364384431 | EYS,PHF3 | c.*7738T>G (n.*7738T>G) c.8585A>C (p.Glu2862Ala) c.8648A>C (p.Glu2883Ala) c.363+10084T>G | |
6 | g.63721447C>A | CA364384432 | EYS,PHF3 | c.*7739C>A (n.*7739C>A) c.8584G>T (p.Glu2862Ter) c.8647G>T (p.Glu2883Ter) c.363+10085C>A | |
6 | g.63721447C= | CA1633381891 | EYS,PHF3 | c.*7739C= (n.*7739C=) c.8584G= (p.Glu2862=) c.8647G= (p.Glu2883=) c.363+10085C= | |
6 | g.63721447C>G | CA364384433 | EYS,PHF3 | c.*7739C>G (n.*7739C>G) c.8584G>C (p.Glu2862Gln) c.8647G>C (p.Glu2883Gln) c.363+10085C>G | |
6 | g.63721447C>T | CA364384434 | EYS,PHF3 | c.*7739C>T (n.*7739C>T) c.8584G>A (p.Glu2862Lys) c.8647G>A (p.Glu2883Lys) c.363+10085C>T | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721448A= | CA1633381893 | EYS,PHF3 | c.*7740A= (n.*7740A=) c.8583T= (p.Thr2861=) c.8646T= (p.Thr2882=) c.363+10086A= | |
6 | g.63721448A>C | CA450862255 | EYS,PHF3 | c.*7740A>C (n.*7740A>C) c.8583T>G (p.Thr2861=) c.8646T>G (p.Thr2882=) c.363+10086A>C | |
6 | g.63721448A>G | CA140236843 | EYS,PHF3 | c.*7740A>G (n.*7740A>G) c.8583T>C (p.Thr2861=) c.8646T>C (p.Thr2882=) c.363+10086A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721448A>T | CA450862256 | EYS,PHF3 | c.*7740A>T (n.*7740A>T) c.8583T>A (p.Thr2861=) c.8646T>A (p.Thr2882=) c.363+10086A>T | |
6 | g.63721449G>A | CA364384437 | EYS,PHF3 | c.*7741G>A (n.*7741G>A) c.8582C>T (p.Thr2861Ile) c.8645C>T (p.Thr2882Ile) c.363+10087G>A | |
6 | g.63721449G>C | CA364384436 | EYS,PHF3 | c.*7741G>C (n.*7741G>C) c.8582C>G (p.Thr2861Ser) c.8645C>G (p.Thr2882Ser) c.363+10087G>C | |
6 | g.63721449G= | CA1633381895 | EYS,PHF3 | c.*7741G= (n.*7741G=) c.8582C= (p.Thr2861=) c.8645C= (p.Thr2882=) c.363+10087G= | |
6 | g.63721449G>T | CA364384435 | EYS,PHF3 | c.*7741G>T (n.*7741G>T) c.8582C>A (p.Thr2861Asn) c.8645C>A (p.Thr2882Asn) c.363+10087G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721450T>A | CA364384440 | EYS,PHF3 | c.*7742T>A (n.*7742T>A) c.8581A>T (p.Thr2861Ser) c.8644A>T (p.Thr2882Ser) c.363+10088T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721450T>C | CA364384438 | EYS,PHF3 | c.*7742T>C (n.*7742T>C) c.8581A>G (p.Thr2861Ala) c.8644A>G (p.Thr2882Ala) c.363+10088T>C | |
6 | g.63721450T>G | CA364384439 | EYS,PHF3 | c.*7742T>G (n.*7742T>G) c.8581A>C (p.Thr2861Pro) c.8644A>C (p.Thr2882Pro) c.363+10088T>G | gnomAD v4 |
6 | g.63721450T= | CA1633381897 | EYS,PHF3 | c.*7742T= (n.*7742T=) c.8581A= (p.Thr2861=) c.8644A= (p.Thr2882=) c.363+10088T= | |
6 | g.63721451T>A | CA364384441 | EYS,PHF3 | c.*7743T>A (n.*7743T>A) c.8580A>T (p.Leu2860Phe) c.8643A>T (p.Leu2881Phe) c.363+10089T>A | |
6 | g.63721451T>C | CA450862257 | EYS,PHF3 | c.*7743T>C (n.*7743T>C) c.8580A>G (p.Leu2860=) c.8643A>G (p.Leu2881=) c.363+10089T>C | |
6 | g.63721451T>G | CA364384442 | EYS,PHF3 | c.*7743T>G (n.*7743T>G) c.8580A>C (p.Leu2860Phe) c.8643A>C (p.Leu2881Phe) c.363+10089T>G | dbSNP |
6 | g.63721451T= | CA1633381899 | EYS,PHF3 | c.*7743T= (n.*7743T=) c.8580A= (p.Leu2860=) c.8643A= (p.Leu2881=) c.363+10089T= | |
6 | g.63721456_63721461del | CA2739289895 | EYS,PHF3 | c.*7748_*7753del (n.*7748_*7753del) c.8575_8580del (p.Gln2859_Leu2860del) c.8638_8643del (p.Gln2880_Leu2881del) c.363+10094_363+10099del | |
6 | g.63721452A= | CA1633381901 | EYS,PHF3 | c.*7744A= (n.*7744A=) c.8579T= (p.Leu2860=) c.8642T= (p.Leu2881=) c.363+10090A= | |
6 | g.63721452A>C | CA364384443 | EYS,PHF3 | c.*7744A>C (n.*7744A>C) c.8579T>G (p.Leu2860Ter) c.8642T>G (p.Leu2881Ter) c.363+10090A>C | gnomAD v4 |
6 | g.63721452A>G | CA364384444 | EYS,PHF3 | c.*7744A>G (n.*7744A>G) c.8579T>C (p.Leu2860Ser) c.8642T>C (p.Leu2881Ser) c.363+10090A>G | |
6 | g.63721452A>T | CA364384445 | EYS,PHF3 | c.*7744A>T (n.*7744A>T) c.8579T>A (p.Leu2860Ter) c.8642T>A (p.Leu2881Ter) c.363+10090A>T | ClinVar dbSNP |
6 | g.63721453A>C | CA364384446 | EYS,PHF3 | c.*7745A>C (n.*7745A>C) c.8578T>G (p.Leu2860Val) c.8641T>G (p.Leu2881Val) c.363+10091A>C | |
6 | g.63721453A>G | CA450862258 | EYS,PHF3 | c.*7745A>G (n.*7745A>G) c.8578T>C (p.Leu2860=) c.8641T>C (p.Leu2881=) c.363+10091A>G | |
6 | g.63721453A>T | CA364384447 | EYS,PHF3 | c.*7745A>T (n.*7745A>T) c.8578T>A (p.Leu2860Ile) c.8641T>A (p.Leu2881Ile) c.363+10091A>T | |
6 | g.63721454T>A | CA364384448 | EYS,PHF3 | c.*7746T>A (n.*7746T>A) c.8577A>T (p.Gln2859His) c.8640A>T (p.Gln2880His) c.363+10092T>A | |
6 | g.63721454T>C | CA450862259 | EYS,PHF3 | c.*7746T>C (n.*7746T>C) c.8577A>G (p.Gln2859=) c.8640A>G (p.Gln2880=) c.363+10092T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721454T>G | CA140236844 | EYS,PHF3 | c.*7746T>G (n.*7746T>G) c.8577A>C (p.Gln2859His) c.8640A>C (p.Gln2880His) c.363+10092T>G | dbSNP |
6 | g.63721454T= | CA1633381903 | EYS,PHF3 | c.*7746T= (n.*7746T=) c.8577A= (p.Gln2859=) c.8640A= (p.Gln2880=) c.363+10092T= | |
6 | g.63721455T>A | CA364384449 | EYS,PHF3 | c.*7747T>A (n.*7747T>A) c.8576A>T (p.Gln2859Leu) c.8639A>T (p.Gln2880Leu) c.363+10093T>A | |
6 | g.63721455T>C | CA364384450 | EYS,PHF3 | c.*7747T>C (n.*7747T>C) c.8576A>G (p.Gln2859Arg) c.8639A>G (p.Gln2880Arg) c.363+10093T>C | |
6 | g.63721455T>G | CA364384451 | EYS,PHF3 | c.*7747T>G (n.*7747T>G) c.8576A>C (p.Gln2859Pro) c.8639A>C (p.Gln2880Pro) c.363+10093T>G | |
6 | g.63721456G>A | CA364384452 | EYS,PHF3 | c.*7748G>A (n.*7748G>A) c.8575C>T (p.Gln2859Ter) c.8638C>T (p.Gln2880Ter) c.363+10094G>A | |
6 | g.63721456G>C | CA364384454 | EYS,PHF3 | c.*7748G>C (n.*7748G>C) c.8575C>G (p.Gln2859Glu) c.8638C>G (p.Gln2880Glu) c.363+10094G>C | |
6 | g.63721456G>T | CA364384453 | EYS,PHF3 | c.*7748G>T (n.*7748G>T) c.8575C>A (p.Gln2859Lys) c.8638C>A (p.Gln2880Lys) c.363+10094G>T | |
6 | g.63721457T>A | CA364384455 | EYS,PHF3 | c.*7749T>A (n.*7749T>A) c.8574A>T (p.Leu2858Phe) c.8637A>T (p.Leu2879Phe) c.363+10095T>A | |
6 | g.63721457T>C | CA450862260 | EYS,PHF3 | c.*7749T>C (n.*7749T>C) c.8574A>G (p.Leu2858=) c.8637A>G (p.Leu2879=) c.363+10095T>C | ClinVar gnomAD v4 |
6 | g.63721457T>G | CA364384456 | EYS,PHF3 | c.*7749T>G (n.*7749T>G) c.8574A>C (p.Leu2858Phe) c.8637A>C (p.Leu2879Phe) c.363+10095T>G | |
6 | g.63721458A>C | CA364384457 | EYS,PHF3 | c.*7750A>C (n.*7750A>C) c.8573T>G (p.Leu2858Ter) c.8636T>G (p.Leu2879Ter) c.363+10096A>C | |
6 | g.63721458A>G | CA364384458 | EYS,PHF3 | c.*7750A>G (n.*7750A>G) c.8573T>C (p.Leu2858Ser) c.8636T>C (p.Leu2879Ser) c.363+10096A>G | |
6 | g.63721458A>T | CA364384459 | EYS,PHF3 | c.*7750A>T (n.*7750A>T) c.8573T>A (p.Leu2858Ter) c.8636T>A (p.Leu2879Ter) c.363+10096A>T | |
6 | g.63721459del | CA2578659644 | EYS,PHF3 | c.*7751del (n.*7751del) c.8573del (p.Leu2858TyrfsTer3) c.8636del (p.Leu2879TyrfsTer3) c.363+10097del | |
6 | g.63721459A>C | CA364384460 | EYS,PHF3 | c.*7751A>C (n.*7751A>C) c.8572T>G (p.Leu2858Val) c.8635T>G (p.Leu2879Val) c.363+10097A>C | |
6 | g.63721459A>G | CA450862261 | EYS,PHF3 | c.*7751A>G (n.*7751A>G) c.8572T>C (p.Leu2858=) c.8635T>C (p.Leu2879=) c.363+10097A>G | |
6 | g.63721459A>T | CA364384461 | EYS,PHF3 | c.*7751A>T (n.*7751A>T) c.8572T>A (p.Leu2858Ile) c.8635T>A (p.Leu2879Ile) c.363+10097A>T | gnomAD v4 |
6 | g.63721460T>A | CA364384462 | EYS,PHF3 | c.*7752T>A (n.*7752T>A) c.8571A>T (p.Glu2857Asp) c.8634A>T (p.Glu2878Asp) c.363+10098T>A | |
6 | g.63721460T>C | CA450862262 | EYS,PHF3 | c.*7752T>C (n.*7752T>C) c.8571A>G (p.Glu2857=) c.8634A>G (p.Glu2878=) c.363+10098T>C | dbSNP |
6 | g.63721460T>G | CA364384463 | EYS,PHF3 | c.*7752T>G (n.*7752T>G) c.8571A>C (p.Glu2857Asp) c.8634A>C (p.Glu2878Asp) c.363+10098T>G | |
6 | g.63721460T= | CA1633381905 | EYS,PHF3 | c.*7752T= (n.*7752T=) c.8571A= (p.Glu2857=) c.8634A= (p.Glu2878=) c.363+10098T= | |
6 | g.63721461T>A | CA364384464 | EYS,PHF3 | c.*7753T>A (n.*7753T>A) c.8570A>T (p.Glu2857Val) c.8633A>T (p.Glu2878Val) c.363+10099T>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721461T>C | CA364384465 | EYS,PHF3 | c.*7753T>C (n.*7753T>C) c.8570A>G (p.Glu2857Gly) c.8633A>G (p.Glu2878Gly) c.363+10099T>C | gnomAD v4 |
6 | g.63721461T>G | CA364384466 | EYS,PHF3 | c.*7753T>G (n.*7753T>G) c.8570A>C (p.Glu2857Ala) c.8633A>C (p.Glu2878Ala) c.363+10099T>G | |
6 | g.63721461T= | CA1633381907 | EYS,PHF3 | c.*7753T= (n.*7753T=) c.8570A= (p.Glu2857=) c.8633A= (p.Glu2878=) c.363+10099T= | |
6 | g.63721462C>A | CA364384468 | EYS,PHF3 | c.*7754C>A (n.*7754C>A) c.8569G>T (p.Glu2857Ter) c.8632G>T (p.Glu2878Ter) c.363+10100C>A | gnomAD v4 |
6 | g.63721462C>G | CA364384469 | EYS,PHF3 | c.*7754C>G (n.*7754C>G) c.8569G>C (p.Glu2857Gln) c.8632G>C (p.Glu2878Gln) c.363+10100C>G | |
6 | g.63721462C>T | CA364384467 | EYS,PHF3 | c.*7754C>T (n.*7754C>T) c.8569G>A (p.Glu2857Lys) c.8632G>A (p.Glu2878Lys) c.363+10100C>T | |
6 | g.63721462_63721466delinsCTTGA | CA1633381909 | EYS,PHF3 | c.*7754_*7758delinsCTTGA (n.*7754_*7758delinsCTTGA) c.8565_8569delinsTCAAG (p.Asn2855=) c.8628_8632delinsTCAAG (p.Asn2876=) c.363+10100_363+10104delinsCTTGA | |
6 | g.63721463T>A | CA364384470 | EYS,PHF3 | c.*7755T>A (n.*7755T>A) c.8568A>T (p.Gln2856His) c.8631A>T (p.Gln2877His) c.363+10101T>A | |
6 | g.63721463T>C | CA450862263 | EYS,PHF3 | c.*7755T>C (n.*7755T>C) c.8568A>G (p.Gln2856=) c.8631A>G (p.Gln2877=) c.363+10101T>C | |
6 | g.63721463T>G | CA364384471 | EYS,PHF3 | c.*7755T>G (n.*7755T>G) c.8568A>C (p.Gln2856His) c.8631A>C (p.Gln2877His) c.363+10101T>G | |
6 | g.63721465_63721468del | CA568118966 | EYS,PHF3 | c.*7757_*7760del (n.*7757_*7760del) c.8565_8568del (p.Asn2855LysfsTer5) c.8628_8631del (p.Asn2876LysfsTer5) c.363+10103_363+10106del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721464T>A | CA364384472 | EYS,PHF3 | c.*7756T>A (n.*7756T>A) c.8567A>T (p.Gln2856Leu) c.8630A>T (p.Gln2877Leu) c.363+10102T>A | |
6 | g.63721464T>C | CA364384473 | EYS,PHF3 | c.*7756T>C (n.*7756T>C) c.8567A>G (p.Gln2856Arg) c.8630A>G (p.Gln2877Arg) c.363+10102T>C | |
6 | g.63721464T>G | CA364384474 | EYS,PHF3 | c.*7756T>G (n.*7756T>G) c.8567A>C (p.Gln2856Pro) c.8630A>C (p.Gln2877Pro) c.363+10102T>G | |
6 | g.63721465G>A | CA364384475 | EYS,PHF3 | c.*7757G>A (n.*7757G>A) c.8566C>T (p.Gln2856Ter) c.8629C>T (p.Gln2877Ter) c.363+10103G>A | gnomAD v4 |
6 | g.63721465G>C | CA364384476 | EYS,PHF3 | c.*7757G>C (n.*7757G>C) c.8566C>G (p.Gln2856Glu) c.8629C>G (p.Gln2877Glu) c.363+10103G>C | gnomAD v4 |
6 | g.63721465G= | CA1633381912 | EYS,PHF3 | c.*7757G= (n.*7757G=) c.8566C= (p.Gln2856=) c.8629C= (p.Gln2877=) c.363+10103G= | |
6 | g.63721465G>T | CA364384477 | EYS,PHF3 | c.*7757G>T (n.*7757G>T) c.8566C>A (p.Gln2856Lys) c.8629C>A (p.Gln2877Lys) c.363+10103G>T | dbSNP |
6 | g.63721466A= | CA1633381916 | EYS,PHF3 | c.*7758A= (n.*7758A=) c.8565T= (p.Asn2855=) c.8628T= (p.Asn2876=) c.363+10104A= | |
6 | g.63721466A>C | CA364384478 | EYS,PHF3 | c.*7758A>C (n.*7758A>C) c.8565T>G (p.Asn2855Lys) c.8628T>G (p.Asn2876Lys) c.363+10104A>C | |
6 | g.63721466A>G | CA450862265 | EYS,PHF3 | c.*7758A>G (n.*7758A>G) c.8565T>C (p.Asn2855=) c.8628T>C (p.Asn2876=) c.363+10104A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721466A>T | CA364384479 | EYS,PHF3 | c.*7758A>T (n.*7758A>T) c.8565T>A (p.Asn2855Lys) c.8628T>A (p.Asn2876Lys) c.363+10104A>T | dbSNP |
6 | g.63721466_63721470delinsATTAT | CA1633381915 | EYS,PHF3 | c.*7758_*7762delinsATTAT (n.*7758_*7762delinsATTAT) c.8561_8565delinsATAAT (p.Asn2854=) c.8624_8628delinsATAAT (p.Asn2875=) c.363+10104_363+10108delinsATTAT | |
6 | g.63721469_63721471del | CA450862264 | EYS,PHF3 | c.*7761_*7763del (n.*7761_*7763del) c.8563_8565del (p.Asn2855del) c.8626_8628del (p.Asn2876del) c.363+10107_363+10109del | |
6 | g.63721467T>A | CA364384480 | EYS,PHF3 | c.*7759T>A (n.*7759T>A) c.8564A>T (p.Asn2855Ile) c.8627A>T (p.Asn2876Ile) c.363+10105T>A | |
6 | g.63721467T>C | CA140236845 | EYS,PHF3 | c.*7759T>C (n.*7759T>C) c.8564A>G (p.Asn2855Ser) c.8627A>G (p.Asn2876Ser) c.363+10105T>C | ClinVar dbSNP |
6 | g.63721467T>G | CA364384481 | EYS,PHF3 | c.*7759T>G (n.*7759T>G) c.8564A>C (p.Asn2855Thr) c.8627A>C (p.Asn2876Thr) c.363+10105T>G | |
6 | g.63721467T= | CA1633381919 | EYS,PHF3 | c.*7759T= (n.*7759T=) c.8564A= (p.Asn2855=) c.8627A= (p.Asn2876=) c.363+10105T= | |
6 | g.63721471_63721474del | CA916082855 | EYS,PHF3 | c.*7763_*7766del (n.*7763_*7766del) c.8561_8564del (p.Asn2854IlefsTer6) c.8624_8627del (p.Asn2875IlefsTer6) c.363+10109_363+10112del | ClinVar dbSNP |
6 | g.63721468T>A | CA364384484 | EYS,PHF3 | c.*7760T>A (n.*7760T>A) c.8563A>T (p.Asn2855Tyr) c.8626A>T (p.Asn2876Tyr) c.363+10106T>A | |
6 | g.63721468T>C | CA364384483 | EYS,PHF3 | c.*7760T>C (n.*7760T>C) c.8563A>G (p.Asn2855Asp) c.8626A>G (p.Asn2876Asp) c.363+10106T>C | |
6 | g.63721468T>G | CA364384482 | EYS,PHF3 | c.*7760T>G (n.*7760T>G) c.8563A>C (p.Asn2855His) c.8626A>C (p.Asn2876His) c.363+10106T>G | |
6 | g.63721469A>C | CA364384485 | EYS,PHF3 | c.*7761A>C (n.*7761A>C) c.8562T>G (p.Asn2854Lys) c.8625T>G (p.Asn2875Lys) c.363+10107A>C | |
6 | g.63721469A>G | CA450862266 | EYS,PHF3 | c.*7761A>G (n.*7761A>G) c.8562T>C (p.Asn2854=) c.8625T>C (p.Asn2875=) c.363+10107A>G | gnomAD v4 |
6 | g.63721469A>T | CA364384486 | EYS,PHF3 | c.*7761A>T (n.*7761A>T) c.8562T>A (p.Asn2854Lys) c.8625T>A (p.Asn2875Lys) c.363+10107A>T | |
6 | g.63721470T>A | CA364384487 | EYS,PHF3 | c.*7762T>A (n.*7762T>A) c.8561A>T (p.Asn2854Ile) c.8624A>T (p.Asn2875Ile) c.363+10108T>A | |
6 | g.63721470T>C | CA364384488 | EYS,PHF3 | c.*7762T>C (n.*7762T>C) c.8561A>G (p.Asn2854Ser) c.8624A>G (p.Asn2875Ser) c.363+10108T>C | |
6 | g.63721470T>G | CA364384489 | EYS,PHF3 | c.*7762T>G (n.*7762T>G) c.8561A>C (p.Asn2854Thr) c.8624A>C (p.Asn2875Thr) c.363+10108T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721470T= | CA1633381922 | EYS,PHF3 | c.*7762T= (n.*7762T=) c.8561A= (p.Asn2854=) c.8624A= (p.Asn2875=) c.363+10108T= | |
6 | g.63721471T>A | CA364384490 | EYS,PHF3 | c.*7763T>A (n.*7763T>A) c.8560A>T (p.Asn2854Tyr) c.8623A>T (p.Asn2875Tyr) c.363+10109T>A | |
6 | g.63721471T>C | CA364384491 | EYS,PHF3 | c.*7763T>C (n.*7763T>C) c.8560A>G (p.Asn2854Asp) c.8623A>G (p.Asn2875Asp) c.363+10109T>C | |
6 | g.63721471T>G | CA364384492 | EYS,PHF3 | c.*7763T>G (n.*7763T>G) c.8560A>C (p.Asn2854His) c.8623A>C (p.Asn2875His) c.363+10109T>G | |
6 | g.63721472T>A | CA450862270 | EYS,PHF3 | c.*7764T>A (n.*7764T>A) c.8559A>T (p.Ile2853=) c.8622A>T (p.Ile2874=) c.363+10110T>A | |
6 | g.63721472T>C | CA364384493 | EYS,PHF3 | c.*7764T>C (n.*7764T>C) c.8559A>G (p.Ile2853Met) c.8622A>G (p.Ile2874Met) c.363+10110T>C | |
6 | g.63721472T>G | CA450862271 | EYS,PHF3 | c.*7764T>G (n.*7764T>G) c.8559A>C (p.Ile2853=) c.8622A>C (p.Ile2874=) c.363+10110T>G | |
6 | g.63721473A>C | CA364384494 | EYS,PHF3 | c.*7765A>C (n.*7765A>C) c.8558T>G (p.Ile2853Arg) c.8621T>G (p.Ile2874Arg) c.363+10111A>C | |
6 | g.63721473A>G | CA364384495 | EYS,PHF3 | c.*7765A>G (n.*7765A>G) c.8558T>C (p.Ile2853Thr) c.8621T>C (p.Ile2874Thr) c.363+10111A>G | |
6 | g.63721473A>T | CA364384496 | EYS,PHF3 | c.*7765A>T (n.*7765A>T) c.8558T>A (p.Ile2853Lys) c.8621T>A (p.Ile2874Lys) c.363+10111A>T | |
6 | g.63721474T>A | CA364384498 | EYS,PHF3 | c.*7766T>A (n.*7766T>A) c.8557A>T (p.Ile2853Leu) c.8620A>T (p.Ile2874Leu) c.363+10112T>A | |
6 | g.63721474T>C | CA3876703 | EYS,PHF3 | c.*7766T>C (n.*7766T>C) c.8557A>G (p.Ile2853Val) c.8620A>G (p.Ile2874Val) c.363+10112T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.63721474T>G | CA364384497 | EYS,PHF3 | c.*7766T>G (n.*7766T>G) c.8557A>C (p.Ile2853Leu) c.8620A>C (p.Ile2874Leu) c.363+10112T>G | COSMIC |
6 | g.63721474T= | CA1633381924 | EYS,PHF3 | c.*7766T= (n.*7766T=) c.8557A= (p.Ile2853=) c.8620A= (p.Ile2874=) c.363+10112T= | |
6 | g.63721475G>A | CA140236846 | EYS,PHF3 | c.*7767G>A (n.*7767G>A) c.8556C>T (p.Ile2852=) c.8619C>T (p.Ile2873=) c.363+10113G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721475G>C | CA364384499 | EYS,PHF3 | c.*7767G>C (n.*7767G>C) c.8556C>G (p.Ile2852Met) c.8619C>G (p.Ile2873Met) c.363+10113G>C | |
6 | g.63721475G= | CA1633381926 | EYS,PHF3 | c.*7767G= (n.*7767G=) c.8556C= (p.Ile2852=) c.8619C= (p.Ile2873=) c.363+10113G= | |
6 | g.63721475G>T | CA3876704 | EYS,PHF3 | c.*7767G>T (n.*7767G>T) c.8556C>A (p.Ile2852=) c.8619C>A (p.Ile2873=) c.363+10113G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.63721476A= | CA1633381928 | EYS,PHF3 | c.*7768A= (n.*7768A=) c.8555T= (p.Ile2852=) c.8618T= (p.Ile2873=) c.363+10114A= | |
6 | g.63721476A>C | CA364384500 | EYS,PHF3 | c.*7768A>C (n.*7768A>C) c.8555T>G (p.Ile2852Ser) c.8618T>G (p.Ile2873Ser) c.363+10114A>C | |
6 | g.63721476A>G | CA364384501 | EYS,PHF3 | c.*7768A>G (n.*7768A>G) c.8555T>C (p.Ile2852Thr) c.8618T>C (p.Ile2873Thr) c.363+10114A>G | dbSNP |
6 | g.63721476A>T | CA364384502 | EYS,PHF3 | c.*7768A>T (n.*7768A>T) c.8555T>A (p.Ile2852Asn) c.8618T>A (p.Ile2873Asn) c.363+10114A>T | |
6 | g.63721477T>A | CA364384503 | EYS,PHF3 | c.*7769T>A (n.*7769T>A) c.8554A>T (p.Ile2852Phe) c.8617A>T (p.Ile2873Phe) c.363+10115T>A | |
6 | g.63721477T>C | CA364384504 | EYS,PHF3 | c.*7769T>C (n.*7769T>C) c.8554A>G (p.Ile2852Val) c.8617A>G (p.Ile2873Val) c.363+10115T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721477T>G | CA364384505 | EYS,PHF3 | c.*7769T>G (n.*7769T>G) c.8554A>C (p.Ile2852Leu) c.8617A>C (p.Ile2873Leu) c.363+10115T>G | |
6 | g.63721477T= | CA1633381930 | EYS,PHF3 | c.*7769T= (n.*7769T=) c.8554A= (p.Ile2852=) c.8617A= (p.Ile2873=) c.363+10115T= | |
6 | g.63721478A>C | CA450862276 | EYS,PHF3 | c.*7770A>C (n.*7770A>C) c.8553T>G (p.Val2851=) c.8616T>G (p.Val2872=) c.363+10116A>C | |
6 | g.63721478A>G | CA450862277 | EYS,PHF3 | c.*7770A>G (n.*7770A>G) c.8553T>C (p.Val2851=) c.8616T>C (p.Val2872=) c.363+10116A>G | |
6 | g.63721478A>T | CA450862278 | EYS,PHF3 | c.*7770A>T (n.*7770A>T) c.8553T>A (p.Val2851=) c.8616T>A (p.Val2872=) c.363+10116A>T | |
6 | g.63721479A>C | CA364384506 | EYS,PHF3 | c.*7771A>C (n.*7771A>C) c.8552T>G (p.Val2851Gly) c.8615T>G (p.Val2872Gly) c.363+10117A>C | |
6 | g.63721479A>G | CA364384507 | EYS,PHF3 | c.*7771A>G (n.*7771A>G) c.8552T>C (p.Val2851Ala) c.8615T>C (p.Val2872Ala) c.363+10117A>G | |
6 | g.63721479A>T | CA364384508 | EYS,PHF3 | c.*7771A>T (n.*7771A>T) c.8552T>A (p.Val2851Asp) c.8615T>A (p.Val2872Asp) c.363+10117A>T | |
6 | g.63721480C>A | CA364384509 | EYS,PHF3 | c.*7772C>A (n.*7772C>A) c.8551G>T (p.Val2851Phe) c.8614G>T (p.Val2872Phe) c.363+10118C>A | gnomAD v4 |
6 | g.63721480C>G | CA364384510 | EYS,PHF3 | c.*7772C>G (n.*7772C>G) c.8551G>C (p.Val2851Leu) c.8614G>C (p.Val2872Leu) c.363+10118C>G | |
6 | g.63721480C>T | CA364384511 | EYS,PHF3 | c.*7772C>T (n.*7772C>T) c.8551G>A (p.Val2851Ile) c.8614G>A (p.Val2872Ile) c.363+10118C>T | gnomAD v4 |
6 | g.63721481T>A | CA364384512 | EYS,PHF3 | c.*7773T>A (n.*7773T>A) c.8550A>T (p.Gln2850His) c.8613A>T (p.Gln2871His) c.363+10119T>A | |
6 | g.63721481T>C | CA450862282 | EYS,PHF3 | c.*7773T>C (n.*7773T>C) c.8550A>G (p.Gln2850=) c.8613A>G (p.Gln2871=) c.363+10119T>C | |
6 | g.63721481T>G | CA364384513 | EYS,PHF3 | c.*7773T>G (n.*7773T>G) c.8550A>C (p.Gln2850His) c.8613A>C (p.Gln2871His) c.363+10119T>G | |
6 | g.63721482T>A | CA364384514 | EYS,PHF3 | c.*7774T>A (n.*7774T>A) c.8549A>T (p.Gln2850Leu) c.8612A>T (p.Gln2871Leu) c.363+10120T>A | |
6 | g.63721482T>C | CA364384515 | EYS,PHF3 | c.*7774T>C (n.*7774T>C) c.8549A>G (p.Gln2850Arg) c.8612A>G (p.Gln2871Arg) c.363+10120T>C | |
6 | g.63721482T>G | CA364384516 | EYS,PHF3 | c.*7774T>G (n.*7774T>G) c.8549A>C (p.Gln2850Pro) c.8612A>C (p.Gln2871Pro) c.363+10120T>G | |
6 | g.63721483G>A | CA364384517 | EYS,PHF3 | c.*7775G>A (n.*7775G>A) c.8548C>T (p.Gln2850Ter) c.8611C>T (p.Gln2871Ter) c.363+10121G>A | gnomAD v4 |
6 | g.63721483G>C | CA364384518 | EYS,PHF3 | c.*7775G>C (n.*7775G>C) c.8548C>G (p.Gln2850Glu) c.8611C>G (p.Gln2871Glu) c.363+10121G>C | |
6 | g.63721483G>T | CA364384519 | EYS,PHF3 | c.*7775G>T (n.*7775G>T) c.8548C>A (p.Gln2850Lys) c.8611C>A (p.Gln2871Lys) c.363+10121G>T | |
6 | g.63721484T>A | CA450862287 | EYS,PHF3 | c.*7776T>A (n.*7776T>A) c.8547A>T (p.Arg2849=) c.8610A>T (p.Arg2870=) c.363+10122T>A | |
6 | g.63721484T>C | CA450862284 | EYS,PHF3 | c.*7776T>C (n.*7776T>C) c.8547A>G (p.Arg2849=) c.8610A>G (p.Arg2870=) c.363+10122T>C | |
6 | g.63721484T>G | CA450862285 | EYS,PHF3 | c.*7776T>G (n.*7776T>G) c.8547A>C (p.Arg2849=) c.8610A>C (p.Arg2870=) c.363+10122T>G | |
6 | g.63721485C>A | CA364384520 | EYS,PHF3 | c.*7777C>A (n.*7777C>A) c.8546G>T (p.Arg2849Leu) c.8609G>T (p.Arg2870Leu) c.363+10123C>A | gnomAD v4 |
6 | g.63721485C= | CA1633381932 | EYS,PHF3 | c.*7777C= (n.*7777C=) c.8546G= (p.Arg2849=) c.8609G= (p.Arg2870=) c.363+10123C= | |
6 | g.63721485C>G | CA364384521 | EYS,PHF3 | c.*7777C>G (n.*7777C>G) c.8546G>C (p.Arg2849Pro) c.8609G>C (p.Arg2870Pro) c.363+10123C>G | |
6 | g.63721485C>T | CA364384522 | EYS,PHF3 | c.*7777C>T (n.*7777C>T) c.8546G>A (p.Arg2849Gln) c.8609G>A (p.Arg2870Gln) c.363+10123C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721486G>A | CA364384523 | EYS,PHF3 | c.*7778G>A (n.*7778G>A) c.8545C>T (p.Arg2849Ter) c.8608C>T (p.Arg2870Ter) c.363+10124G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721486G>C | CA364384524 | EYS,PHF3 | c.*7778G>C (n.*7778G>C) c.8545C>G (p.Arg2849Gly) c.8608C>G (p.Arg2870Gly) c.363+10124G>C | |
6 | g.63721486G= | CA1633381934 | EYS,PHF3 | c.*7778G= (n.*7778G=) c.8545C= (p.Arg2849=) c.8608C= (p.Arg2870=) c.363+10124G= | |
6 | g.63721486G>T | CA450862291 | EYS,PHF3 | c.*7778G>T (n.*7778G>T) c.8545C>A (p.Arg2849=) c.8608C>A (p.Arg2870=) c.363+10124G>T | ClinVar |
6 | g.63721486_63721489del | CA2771457325 | EYS,PHF3 | c.*7778_*7781del (n.*7778_*7781del) c.8542_8545del (p.Ile2848AspfsTer5) c.8605_8608del (p.Ile2869AspfsTer5) c.363+10124_363+10127del | |
6 | g.63721487G>A | CA450862292 | EYS,PHF3 | c.*7779G>A (n.*7779G>A) c.8544C>T (p.Ile2848=) c.8607C>T (p.Ile2869=) c.363+10125G>A | |
6 | g.63721487G>C | CA364384525 | EYS,PHF3 | c.*7779G>C (n.*7779G>C) c.8544C>G (p.Ile2848Met) c.8607C>G (p.Ile2869Met) c.363+10125G>C | |
6 | g.63721487G>T | CA450862294 | EYS,PHF3 | c.*7779G>T (n.*7779G>T) c.8544C>A (p.Ile2848=) c.8607C>A (p.Ile2869=) c.363+10125G>T | ClinVar |
6 | g.63721488del | CA2499218460 | EYS,PHF3 | c.*7780del (n.*7780del) c.8543del (p.Ile2848ThrfsTer6) c.8606del (p.Ile2869ThrfsTer6) c.363+10126del | ClinVar dbSNP |
6 | g.63721488A>C | CA364384528 | EYS,PHF3 | c.*7780A>C (n.*7780A>C) c.8543T>G (p.Ile2848Ser) c.8606T>G (p.Ile2869Ser) c.363+10126A>C | ClinVar dbSNP |
6 | g.63721488A>G | CA364384527 | EYS,PHF3 | c.*7780A>G (n.*7780A>G) c.8543T>C (p.Ile2848Thr) c.8606T>C (p.Ile2869Thr) c.363+10126A>G | |
6 | g.63721488A>T | CA364384526 | EYS,PHF3 | c.*7780A>T (n.*7780A>T) c.8543T>A (p.Ile2848Asn) c.8606T>A (p.Ile2869Asn) c.363+10126A>T | |
6 | g.63721489T>A | CA364384530 | EYS,PHF3 | c.*7781T>A (n.*7781T>A) c.8542A>T (p.Ile2848Phe) c.8605A>T (p.Ile2869Phe) c.363+10127T>A | |
6 | g.63721489T>C | CA364384529 | EYS,PHF3 | c.*7781T>C (n.*7781T>C) c.8542A>G (p.Ile2848Val) c.8605A>G (p.Ile2869Val) c.363+10127T>C | |
6 | g.63721489T>G | CA364384531 | EYS,PHF3 | c.*7781T>G (n.*7781T>G) c.8542A>C (p.Ile2848Leu) c.8605A>C (p.Ile2869Leu) c.363+10127T>G | |
6 | g.63721490A>C | CA364384532 | EYS,PHF3 | c.*7782A>C (n.*7782A>C) c.8541T>G (p.Cys2847Trp) c.8604T>G (p.Cys2868Trp) c.363+10128A>C | |
6 | g.63721490A>G | CA450862298 | EYS,PHF3 | c.*7782A>G (n.*7782A>G) c.8541T>C (p.Cys2847=) c.8604T>C (p.Cys2868=) c.363+10128A>G | |
6 | g.63721490A>T | CA364384533 | EYS,PHF3 | c.*7782A>T (n.*7782A>T) c.8541T>A (p.Cys2847Ter) c.8604T>A (p.Cys2868Ter) c.363+10128A>T | ClinVar |
6 | g.63721491C>A | CA364384534 | EYS,PHF3 | c.*7783C>A (n.*7783C>A) c.8540G>T (p.Cys2847Phe) c.8603G>T (p.Cys2868Phe) c.363+10129C>A | |
6 | g.63721491C>G | CA364384535 | EYS,PHF3 | c.*7783C>G (n.*7783C>G) c.8540G>C (p.Cys2847Ser) c.8603G>C (p.Cys2868Ser) c.363+10129C>G | |
6 | g.63721491C>T | CA364384536 | EYS,PHF3 | c.*7783C>T (n.*7783C>T) c.8540G>A (p.Cys2847Tyr) c.8603G>A (p.Cys2868Tyr) c.363+10129C>T | |
6 | g.63721492A>C | CA364384537 | EYS,PHF3 | c.*7784A>C (n.*7784A>C) c.8539T>G (p.Cys2847Gly) c.8602T>G (p.Cys2868Gly) c.363+10130A>C | |
6 | g.63721492A>G | CA364384538 | EYS,PHF3 | c.*7784A>G (n.*7784A>G) c.8539T>C (p.Cys2847Arg) c.8602T>C (p.Cys2868Arg) c.363+10130A>G | |
6 | g.63721492A>T | CA364384539 | EYS,PHF3 | c.*7784A>T (n.*7784A>T) c.8539T>A (p.Cys2847Ser) c.8602T>A (p.Cys2868Ser) c.363+10130A>T | |
6 | g.63721493G>A | CA450862304 | EYS,PHF3 | c.*7785G>A (n.*7785G>A) c.8538C>T (p.Gly2846=) c.8601C>T (p.Gly2867=) c.363+10131G>A | gnomAD v4 |
6 | g.63721493G>C | CA450862303 | EYS,PHF3 | c.*7785G>C (n.*7785G>C) c.8538C>G (p.Gly2846=) c.8601C>G (p.Gly2867=) c.363+10131G>C | |
6 | g.63721493G>T | CA450862302 | EYS,PHF3 | c.*7785G>T (n.*7785G>T) c.8538C>A (p.Gly2846=) c.8601C>A (p.Gly2867=) c.363+10131G>T | |
6 | g.63721494C>A | CA364384540 | EYS,PHF3 | c.*7786C>A (n.*7786C>A) c.8537G>T (p.Gly2846Val) c.8600G>T (p.Gly2867Val) c.363+10132C>A | |
6 | g.63721494C>G | CA364384541 | EYS,PHF3 | c.*7786C>G (n.*7786C>G) c.8537G>C (p.Gly2846Ala) c.8600G>C (p.Gly2867Ala) c.363+10132C>G | |
6 | g.63721494C>T | CA364384542 | EYS,PHF3 | c.*7786C>T (n.*7786C>T) c.8537G>A (p.Gly2846Asp) c.8600G>A (p.Gly2867Asp) c.363+10132C>T | dbSNP gnomAD v4 |
6 | g.63721495C>A | CA364384543 | EYS,PHF3 | c.*7787C>A (n.*7787C>A) c.8536G>T (p.Gly2846Cys) c.8599G>T (p.Gly2867Cys) c.363+10133C>A | |
6 | g.63721495C>G | CA364384544 | EYS,PHF3 | c.*7787C>G (n.*7787C>G) c.8536G>C (p.Gly2846Arg) c.8599G>C (p.Gly2867Arg) c.363+10133C>G | |
6 | g.63721495C>T | CA364384545 | EYS,PHF3 | c.*7787C>T (n.*7787C>T) c.8536G>A (p.Gly2846Ser) c.8599G>A (p.Gly2867Ser) c.363+10133C>T | gnomAD v4 |
6 | g.63721496T>A | CA364384546 | EYS,PHF3 | c.*7788T>A (n.*7788T>A) c.8535A>T (p.Gln2845His) c.8598A>T (p.Gln2866His) c.363+10134T>A | |
6 | g.63721496T>C | CA450862305 | EYS,PHF3 | c.*7788T>C (n.*7788T>C) c.8535A>G (p.Gln2845=) c.8598A>G (p.Gln2866=) c.363+10134T>C | |
6 | g.63721496T>G | CA364384547 | EYS,PHF3 | c.*7788T>G (n.*7788T>G) c.8535A>C (p.Gln2845His) c.8598A>C (p.Gln2866His) c.363+10134T>G | |
6 | g.63721496_63721499del | CA2771457326 | EYS,PHF3 | c.*7788_*7791del (n.*7788_*7791del) c.8532_8535del (p.Phe2844LeufsTer9) c.8595_8598del (p.Phe2865LeufsTer9) c.363+10134_363+10137del | |
6 | g.63721497T>A | CA364384548 | EYS,PHF3 | c.*7789T>A (n.*7789T>A) c.8534A>T (p.Gln2845Leu) c.8597A>T (p.Gln2866Leu) c.363+10135T>A | |
6 | g.63721497T>C | CA364384549 | EYS,PHF3 | c.*7789T>C (n.*7789T>C) c.8534A>G (p.Gln2845Arg) c.8597A>G (p.Gln2866Arg) c.363+10135T>C | ClinVar |
6 | g.63721497T>G | CA364384550 | EYS,PHF3 | c.*7789T>G (n.*7789T>G) c.8534A>C (p.Gln2845Pro) c.8597A>C (p.Gln2866Pro) c.363+10135T>G | ClinVar dbSNP |
6 | g.63721498G>A | CA364384551 | EYS,PHF3 | c.*7790G>A (n.*7790G>A) c.8533C>T (p.Gln2845Ter) c.8596C>T (p.Gln2866Ter) c.363+10136G>A | |
6 | g.63721498G>C | CA364384552 | EYS,PHF3 | c.*7790G>C (n.*7790G>C) c.8533C>G (p.Gln2845Glu) c.8596C>G (p.Gln2866Glu) c.363+10136G>C | dbSNP |
6 | g.63721498G= | CA1633381937 | EYS,PHF3 | c.*7790G= (n.*7790G=) c.8533C= (p.Gln2845=) c.8596C= (p.Gln2866=) c.363+10136G= | |
6 | g.63721498G>T | CA364384553 | EYS,PHF3 | c.*7790G>T (n.*7790G>T) c.8533C>A (p.Gln2845Lys) c.8596C>A (p.Gln2866Lys) c.363+10136G>T | |
6 | g.63721499A>C | CA364384555 | EYS,PHF3 | c.*7791A>C (n.*7791A>C) c.8532T>G (p.Phe2844Leu) c.8595T>G (p.Phe2865Leu) c.363+10137A>C | |
6 | g.63721499A>G | CA450862306 | EYS,PHF3 | c.*7791A>G (n.*7791A>G) c.8532T>C (p.Phe2844=) c.8595T>C (p.Phe2865=) c.363+10137A>G | |
6 | g.63721499A>T | CA364384554 | EYS,PHF3 | c.*7791A>T (n.*7791A>T) c.8532T>A (p.Phe2844Leu) c.8595T>A (p.Phe2865Leu) c.363+10137A>T | |
6 | g.63721500A>C | CA364384556 | EYS,PHF3 | c.*7792A>C (n.*7792A>C) c.8531T>G (p.Phe2844Cys) c.8594T>G (p.Phe2865Cys) c.363+10138A>C | |
6 | g.63721500A>G | CA364384557 | EYS,PHF3 | c.*7792A>G (n.*7792A>G) c.8531T>C (p.Phe2844Ser) c.8594T>C (p.Phe2865Ser) c.363+10138A>G | |
6 | g.63721500A>T | CA364384558 | EYS,PHF3 | c.*7792A>T (n.*7792A>T) c.8531T>A (p.Phe2844Tyr) c.8594T>A (p.Phe2865Tyr) c.363+10138A>T | |
6 | g.63721501A= | CA1633381940 | EYS,PHF3 | c.*7793A= (n.*7793A=) c.8530T= (p.Phe2844=) c.8593T= (p.Phe2865=) c.363+10139A= | |
6 | g.63721501A>C | CA364384559 | EYS,PHF3 | c.*7793A>C (n.*7793A>C) c.8530T>G (p.Phe2844Val) c.8593T>G (p.Phe2865Val) c.363+10139A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63721501A>G | CA364384560 | EYS,PHF3 | c.*7793A>G (n.*7793A>G) c.8530T>C (p.Phe2844Leu) c.8593T>C (p.Phe2865Leu) c.363+10139A>G | dbSNP |
6 | g.63721501A>T | CA364384561 | EYS,PHF3 | c.*7793A>T (n.*7793A>T) c.8530T>A (p.Phe2844Ile) c.8593T>A (p.Phe2865Ile) c.363+10139A>T | |
6 | g.63721502A>C | CA450862307 | EYS,PHF3 | c.*7794A>C (n.*7794A>C) c.8529T>G (p.Gly2843=) c.8592T>G (p.Gly2864=) c.363+10140A>C | |
6 | g.63721502A>G | CA450862308 | EYS,PHF3 | c.*7794A>G (n.*7794A>G) c.8529T>C (p.Gly2843=) c.8592T>C (p.Gly2864=) c.363+10140A>G | |
6 | g.63721502A>T | CA450862310 | EYS,PHF3 | c.*7794A>T (n.*7794A>T) c.8529T>A (p.Gly2843=) c.8592T>A (p.Gly2864=) c.363+10140A>T | |
6 | g.63721504_63721507del | CA2771457327 | EYS,PHF3 | c.*7796_*7799del (n.*7796_*7799del) c.8526_8529del (p.Gly2843PhefsTer10) c.8589_8592del (p.Gly2864PhefsTer10) c.363+10142_363+10145del | |
6 | g.63721503C>A | CA364384562 | EYS,PHF3 | c.*7795C>A (n.*7795C>A) c.8528G>T (p.Gly2843Val) c.8591G>T (p.Gly2864Val) c.363+10141C>A | |
6 | g.63721503C>G | CA364384564 | EYS,PHF3 | c.*7795C>G (n.*7795C>G) c.8528G>C (p.Gly2843Ala) c.8591G>C (p.Gly2864Ala) c.363+10141C>G | |
6 | g.63721503C>T | CA364384563 | EYS,PHF3 | c.*7795C>T (n.*7795C>T) c.8528G>A (p.Gly2843Asp) c.8591G>A (p.Gly2864Asp) c.363+10141C>T | |
6 | g.63721504C>A | CA364384565 | EYS,PHF3 | c.*7796C>A (n.*7796C>A) c.8527G>T (p.Gly2843Cys) c.8590G>T (p.Gly2864Cys) c.363+10142C>A | gnomAD v4 |
6 | g.63721504C= | CA1633381943 | EYS,PHF3 | c.*7796C= (n.*7796C=) c.8527G= (p.Gly2843=) c.8590G= (p.Gly2864=) c.363+10142C= | |
6 | g.63721504C>G | CA364384566 | EYS,PHF3 | c.*7796C>G (n.*7796C>G) c.8527G>C (p.Gly2843Arg) c.8590G>C (p.Gly2864Arg) c.363+10142C>G | ClinVar dbSNP |
6 | g.63721504C>T | CA364384567 | EYS,PHF3 | c.*7796C>T (n.*7796C>T) c.8527G>A (p.Gly2843Ser) c.8590G>A (p.Gly2864Ser) c.363+10142C>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721505T>A | CA450862313 | EYS,PHF3 | c.*7797T>A (n.*7797T>A) c.8526A>T (p.Val2842=) c.8589A>T (p.Val2863=) c.363+10143T>A | |
6 | g.63721505T>C | CA450862314 | EYS,PHF3 | c.*7797T>C (n.*7797T>C) c.8526A>G (p.Val2842=) c.8589A>G (p.Val2863=) c.363+10143T>C | dbSNP |
6 | g.63721505T>G | CA450862315 | EYS,PHF3 | c.*7797T>G (n.*7797T>G) c.8526A>C (p.Val2842=) c.8589A>C (p.Val2863=) c.363+10143T>G | |
6 | g.63721505T= | CA1633381947 | EYS,PHF3 | c.*7797T= (n.*7797T=) c.8526A= (p.Val2842=) c.8589A= (p.Val2863=) c.363+10143T= | |
6 | g.63721505_63721509delinsTACAG | CA1633381945 | EYS,PHF3 | c.*7797_*7801delinsTACAG (n.*7797_*7801delinsTACAG) c.8522_8526delinsCTGTA (p.Pro2841=) c.8585_8589delinsCTGTA (p.Pro2862=) c.363+10143_363+10147delinsTACAG | |
6 | g.63721506A= | CA1633381950 | EYS,PHF3 | c.*7798A= (n.*7798A=) c.8525T= (p.Val2842=) c.8588T= (p.Val2863=) c.363+10144A= | |
6 | g.63721506A>C | CA364384568 | EYS,PHF3 | c.*7798A>C (n.*7798A>C) c.8525T>G (p.Val2842Gly) c.8588T>G (p.Val2863Gly) c.363+10144A>C | |
6 | g.63721506A>G | CA364384569 | EYS,PHF3 | c.*7798A>G (n.*7798A>G) c.8525T>C (p.Val2842Ala) c.8588T>C (p.Val2863Ala) c.363+10144A>G | dbSNP gnomAD v2 |
6 | g.63721506A>T | CA364384570 | EYS,PHF3 | c.*7798A>T (n.*7798A>T) c.8525T>A (p.Val2842Glu) c.8588T>A (p.Val2863Glu) c.363+10144A>T | |
6 | g.63721506_63721509del | CA916082856 | EYS,PHF3 | c.*7798_*7801del (n.*7798_*7801del) c.8522_8525del (p.Pro2841GlnfsTer12) c.8585_8588del (p.Pro2862GlnfsTer12) c.363+10144_363+10147del | ClinVar dbSNP |
6 | g.63721507C>A | CA364384571 | EYS,PHF3 | c.*7799C>A (n.*7799C>A) c.8524G>T (p.Val2842Leu) c.8587G>T (p.Val2863Leu) c.363+10145C>A | |
6 | g.63721507C>G | CA364384572 | EYS,PHF3 | c.*7799C>G (n.*7799C>G) c.8524G>C (p.Val2842Leu) c.8587G>C (p.Val2863Leu) c.363+10145C>G | |
6 | g.63721507C>T | CA364384573 | EYS,PHF3 | c.*7799C>T (n.*7799C>T) c.8524G>A (p.Val2842Ile) c.8587G>A (p.Val2863Ile) c.363+10145C>T | |
6 | g.63721508A= | CA1633381952 | EYS,PHF3 | c.*7800A= (n.*7800A=) c.8523T= (p.Pro2841=) c.8586T= (p.Pro2862=) c.363+10146A= | |
6 | g.63721508A>C | CA450862317 | EYS,PHF3 | c.*7800A>C (n.*7800A>C) c.8523T>G (p.Pro2841=) c.8586T>G (p.Pro2862=) c.363+10146A>C | |
6 | g.63721508A>G | CA450862318 | EYS,PHF3 | c.*7800A>G (n.*7800A>G) c.8523T>C (p.Pro2841=) c.8586T>C (p.Pro2862=) c.363+10146A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721508A>T | CA450862319 | EYS,PHF3 | c.*7800A>T (n.*7800A>T) c.8523T>A (p.Pro2841=) c.8586T>A (p.Pro2862=) c.363+10146A>T | |
6 | g.63721509G>A | CA364384574 | EYS,PHF3 | c.*7801G>A (n.*7801G>A) c.8522C>T (p.Pro2841Leu) c.8585C>T (p.Pro2862Leu) c.363+10147G>A | |
6 | g.63721509G>C | CA364384575 | EYS,PHF3 | c.*7801G>C (n.*7801G>C) c.8522C>G (p.Pro2841Arg) c.8585C>G (p.Pro2862Arg) c.363+10147G>C | |
6 | g.63721509G>T | CA364384576 | EYS,PHF3 | c.*7801G>T (n.*7801G>T) c.8522C>A (p.Pro2841His) c.8585C>A (p.Pro2862His) c.363+10147G>T |