Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.63788176T>A | CA364385053 | EYS | c.7652A>T (p.Tyr2551Phe) c.966A>T n.292A>T | dbSNP |
6 | g.63788176T>C | CA364385055 | EYS | c.7652A>G (p.Tyr2551Cys) c.966A>G n.292A>G | |
6 | g.63788176T>G | CA364385057 | EYS | c.7652A>C (p.Tyr2551Ser) c.966A>C n.292A>C | |
6 | g.63788177A>C | CA364385065 | EYS | c.7651T>G (p.Tyr2551Asp) c.965T>G n.291T>G | |
6 | g.63788177A>G | CA364385060 | EYS | c.7651T>C (p.Tyr2551His) c.965T>C n.291T>C | |
6 | g.63788177A>T | CA364385062 | EYS | c.7651T>A (p.Tyr2551Asn) c.965T>A n.291T>A | |
6 | g.63788178A>C | CA364385066 | EYS | c.7650T>G (p.Phe2550Leu) c.964T>G n.290T>G | |
6 | g.63788178A>G | CA450742880 | EYS | c.7650T>C (p.Phe2550=) c.964T>C n.290T>C | ClinVar |
6 | g.63788178A>T | CA364385067 | EYS | c.7650T>A (p.Phe2550Leu) c.964T>A n.290T>A | |
6 | g.63788179A= | CA1633415718 | EYS | c.7649T= (p.Phe2550=) c.963T= n.289T= | |
6 | g.63788179A>C | CA364385279 | EYS | c.7649T>G (p.Phe2550Cys) c.963T>G n.289T>G | |
6 | g.63788179A>G | CA364385282 | EYS | c.7649T>C (p.Phe2550Ser) c.963T>C n.289T>C | ClinVar dbSNP |
6 | g.63788179A>T | CA364385284 | EYS | c.7649T>A (p.Phe2550Tyr) c.963T>A n.289T>A | |
6 | g.63788179_63788180insTT | CA2679298330 | EYS | c.7648_7649insAA (p.Phe2550Ter) c.962_963insAA n.288_289insAA | gnomAD v4 |
6 | g.63788180A>C | CA364385291 | EYS | c.7648T>G (p.Phe2550Val) c.962T>G n.288T>G | |
6 | g.63788180A>G | CA364385289 | EYS | c.7648T>C (p.Phe2550Leu) c.962T>C n.288T>C | |
6 | g.63788180A>T | CA364385287 | EYS | c.7648T>A (p.Phe2550Ile) c.962T>A n.288T>A | |
6 | g.63788185_63788188del | CA2679298331 | EYS | c.7645_7648del (p.Gln2549PhefsTer3) c.959_962del n.285_288del | gnomAD v4 |
6 | g.63788180_63788181insT | CA2679298332 | EYS | c.7647_7648insA (p.Phe2550IlefsTer8) c.961_962insA n.287_288insA | gnomAD v4 |
6 | g.63788181C>A | CA364385293 | EYS | c.7647G>T (p.Gln2549His) c.961G>T n.287G>T | |
6 | g.63788181C= | CA1633415719 | EYS | c.7647G= (p.Gln2549=) c.961G= n.287G= | |
6 | g.63788181C>G | CA364385294 | EYS | c.7647G>C (p.Gln2549His) c.961G>C n.287G>C | |
6 | g.63788181C>T | CA450742881 | EYS | c.7647G>A (p.Gln2549=) c.961G>A n.287G>A | dbSNP |
6 | g.63788182T>A | CA364385298 | EYS | c.7646A>T (p.Gln2549Leu) c.960A>T n.286A>T | |
6 | g.63788182T>C | CA364385303 | EYS | c.7646A>G (p.Gln2549Arg) c.960A>G n.286A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788182T>G | CA364385301 | EYS | c.7646A>C (p.Gln2549Pro) c.960A>C n.286A>C | |
6 | g.63788182T= | CA1633415720 | EYS | c.7646A= (p.Gln2549=) c.960A= n.286A= | |
6 | g.63788182_63788183del | CA2573141111 | EYS | c.7645_7646del (p.Gln2549ValfsTer8) c.959_960del n.285_286del | ClinVar dbSNP |
6 | g.63788183G>A | CA364385307 | EYS | c.7645C>T (p.Gln2549Ter) c.959C>T n.285C>T | |
6 | g.63788183G>C | CA364385309 | EYS | c.7645C>G (p.Gln2549Glu) c.959C>G n.285C>G | |
6 | g.63788183G>T | CA364385312 | EYS | c.7645C>A (p.Gln2549Lys) c.959C>A n.285C>A | |
6 | g.63788184A>C | CA364385314 | EYS | c.7644T>G (p.Ser2548Arg) c.958T>G n.284T>G | |
6 | g.63788184A>G | CA450742883 | EYS | c.7644T>C (p.Ser2548=) c.958T>C n.284T>C | |
6 | g.63788184A>T | CA364385315 | EYS | c.7644T>A (p.Ser2548Arg) c.958T>A n.284T>A | |
6 | g.63788185C>A | CA364385316 | EYS | c.7643G>T (p.Ser2548Ile) c.957G>T n.283G>T | |
6 | g.63788185C>G | CA364385317 | EYS | c.7643G>C (p.Ser2548Thr) c.957G>C n.283G>C | |
6 | g.63788185C>T | CA364385318 | EYS | c.7643G>A (p.Ser2548Asn) c.957G>A n.283G>A | |
6 | g.63788186T>A | CA364385319 | EYS | c.7642A>T (p.Ser2548Cys) c.956A>T n.282A>T | |
6 | g.63788186T>C | CA364385320 | EYS | c.7642A>G (p.Ser2548Gly) c.956A>G n.282A>G | |
6 | g.63788186T>G | CA364385321 | EYS | c.7642A>C (p.Ser2548Arg) c.956A>C n.282A>C | |
6 | g.63788187G>A | CA450742893 | EYS | c.7641C>T (p.Phe2547=) c.955C>T n.281C>T | |
6 | g.63788187G>C | CA364385323 | EYS | c.7641C>G (p.Phe2547Leu) c.955C>G n.281C>G | |
6 | g.63788187G>T | CA364385322 | EYS | c.7641C>A (p.Phe2547Leu) c.955C>A n.281C>A | |
6 | g.63788188A>C | CA364385326 | EYS | c.7640T>G (p.Phe2547Cys) c.954T>G n.280T>G | |
6 | g.63788188A>G | CA364385328 | EYS | c.7640T>C (p.Phe2547Ser) c.954T>C n.280T>C | |
6 | g.63788188A>T | CA364385330 | EYS | c.7640T>A (p.Phe2547Tyr) c.954T>A n.280T>A | |
6 | g.63788189A>C | CA364385333 | EYS | c.7639T>G (p.Phe2547Val) c.953T>G n.279T>G | |
6 | g.63788189A>G | CA364385335 | EYS | c.7639T>C (p.Phe2547Leu) c.953T>C n.279T>C | |
6 | g.63788189A>T | CA364385338 | EYS | c.7639T>A (p.Phe2547Ile) c.953T>A n.279T>A | |
6 | g.63788190G>A | CA450742898 | EYS | c.7638C>T (p.Val2546=) c.952C>T n.278C>T | gnomAD v4 |
6 | g.63788190G>C | CA450742899 | EYS | c.7638C>G (p.Val2546=) c.952C>G n.278C>G | |
6 | g.63788190G>T | CA450742897 | EYS | c.7638C>A (p.Val2546=) c.952C>A n.278C>A | |
6 | g.63788191A>C | CA364385341 | EYS | c.7637T>G (p.Val2546Gly) c.951T>G n.277T>G | |
6 | g.63788191A>G | CA364385342 | EYS | c.7637T>C (p.Val2546Ala) c.951T>C n.277T>C | |
6 | g.63788191A>T | CA364385343 | EYS | c.7637T>A (p.Val2546Asp) c.951T>A n.277T>A | |
6 | g.63788192C>A | CA364385346 | EYS | c.7636G>T (p.Val2546Phe) c.950G>T n.276G>T | |
6 | g.63788192C= | CA1633415721 | EYS | c.7636G= (p.Val2546=) c.950G= n.276G= | |
6 | g.63788192C>G | CA364385348 | EYS | c.7636G>C (p.Val2546Leu) c.950G>C n.276G>C | |
6 | g.63788192C>T | CA364385351 | EYS | c.7636G>A (p.Val2546Ile) c.950G>A n.276G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788193A= | CA1633415722 | EYS | c.7635T= (p.Asn2545=) c.949T= n.275T= | |
6 | g.63788193A>C | CA364385356 | EYS | c.7635T>G (p.Asn2545Lys) c.949T>G n.275T>G | |
6 | g.63788193A>G | CA450742903 | EYS | c.7635T>C (p.Asn2545=) c.949T>C n.275T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788193A>T | CA364385354 | EYS | c.7635T>A (p.Asn2545Lys) c.949T>A n.275T>A | |
6 | g.63788194T>A | CA364385359 | EYS | c.7634A>T (p.Asn2545Ile) c.948A>T n.274A>T | COSMIC |
6 | g.63788194T>C | CA364385361 | EYS | c.7634A>G (p.Asn2545Ser) c.948A>G n.274A>G | gnomAD v4 |
6 | g.63788194T>G | CA364385363 | EYS | c.7634A>C (p.Asn2545Thr) c.948A>C n.274A>C | |
6 | g.63788194_63788195del | CA2578659739 | EYS | c.7633_7634del (p.Asn2545CysfsTer12) c.947_948del n.273_274del | |
6 | g.63788195T>A | CA364385366 | EYS | c.7633A>T (p.Asn2545Tyr) c.947A>T n.273A>T | |
6 | g.63788195T>C | CA364385368 | EYS | c.7633A>G (p.Asn2545Asp) c.947A>G n.273A>G | |
6 | g.63788195T>G | CA364385369 | EYS | c.7633A>C (p.Asn2545His) c.947A>C n.273A>C | |
6 | g.63788196G>A | CA450742913 | EYS | c.7632C>T (p.Leu2544=) c.946C>T n.272C>T | |
6 | g.63788196G>C | CA450742914 | EYS | c.7632C>G (p.Leu2544=) c.946C>G n.272C>G | |
6 | g.63788196G>T | CA450742916 | EYS | c.7632C>A (p.Leu2544=) c.946C>A n.272C>A | |
6 | g.63788197A>C | CA364385372 | EYS | c.7631T>G (p.Leu2544Arg) c.945T>G n.271T>G | |
6 | g.63788197A>G | CA364385373 | EYS | c.7631T>C (p.Leu2544Pro) c.945T>C n.271T>C | |
6 | g.63788197A>T | CA364385375 | EYS | c.7631T>A (p.Leu2544His) c.945T>A n.271T>A | |
6 | g.63788198G>A | CA364385378 | EYS | c.7630C>T (p.Leu2544Phe) c.944C>T n.270C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788198G>C | CA364385380 | EYS | c.7630C>G (p.Leu2544Val) c.944C>G n.270C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788198G= | CA1633415723 | EYS | c.7630C= (p.Leu2544=) c.944C= n.270C= | |
6 | g.63788198G>T | CA364385382 | EYS | c.7630C>A (p.Leu2544Ile) c.944C>A n.270C>A | |
6 | g.63788199A>C | CA450742925 | EYS | c.7629T>G (p.Gly2543=) c.943T>G n.269T>G | |
6 | g.63788199A>G | CA450742926 | EYS | c.7629T>C (p.Gly2543=) c.943T>C n.269T>C | |
6 | g.63788199A>T | CA450742928 | EYS | c.7629T>A (p.Gly2543=) c.943T>A n.269T>A | |
6 | g.63788200C>A | CA364385388 | EYS | c.7628G>T (p.Gly2543Val) c.942G>T n.268G>T | |
6 | g.63788200C>G | CA364385390 | EYS | c.7628G>C (p.Gly2543Ala) c.942G>C n.268G>C | |
6 | g.63788200C>T | CA364385385 | EYS | c.7628G>A (p.Gly2543Asp) c.942G>A n.268G>A | gnomAD v4 |
6 | g.63788201del | CA2771459616 | EYS | c.7628del (p.Gly2543ValfsTer10) c.942del n.268del | |
6 | g.63788201C>A | CA364385394 | EYS | c.7627G>T (p.Gly2543Cys) c.941G>T n.267G>T | dbSNP COSMIC |
6 | g.63788201C= | CA1633415724 | EYS | c.7627G= (p.Gly2543=) c.941G= n.267G= | |
6 | g.63788201C>G | CA364385396 | EYS | c.7627G>C (p.Gly2543Arg) c.941G>C n.267G>C | |
6 | g.63788201C>T | CA364385397 | EYS | c.7627G>A (p.Gly2543Ser) c.941G>A n.267G>A | ClinVar dbSNP |
6 | g.63788202A>C | CA450742945 | EYS | c.7626T>G (p.Val2542=) c.940T>G n.266T>G | |
6 | g.63788202A>G | CA450742947 | EYS | c.7626T>C (p.Val2542=) c.940T>C n.266T>C | |
6 | g.63788202A>T | CA450742949 | EYS | c.7626T>A (p.Val2542=) c.940T>A n.266T>A | |
6 | g.63788203A= | CA1633415725 | EYS | c.7625T= (p.Val2542=) c.939T= n.265T= | |
6 | g.63788203A>C | CA364385401 | EYS | c.7625T>G (p.Val2542Gly) c.939T>G n.265T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788203A>G | CA364385403 | EYS | c.7625T>C (p.Val2542Ala) c.939T>C n.265T>C | |
6 | g.63788203A>T | CA364385406 | EYS | c.7625T>A (p.Val2542Asp) c.939T>A n.265T>A | |
6 | g.63788204C>A | CA364385409 | EYS | c.7624G>T (p.Val2542Phe) c.938G>T n.264G>T | ClinVar dbSNP |
6 | g.63788204C>G | CA364385414 | EYS | c.7624G>C (p.Val2542Leu) c.938G>C n.264G>C | |
6 | g.63788204C>T | CA364385411 | EYS | c.7624G>A (p.Val2542Ile) c.938G>A n.264G>A | gnomAD v4 COSMIC |
6 | g.63788205del | CA2580075616 | EYS | c.7624del (p.Val2542LeufsTer11) c.938del n.264del | ClinVar |
6 | g.63788205C>A | CA450742959 | EYS | c.7623G>T (p.Leu2541=) c.937G>T n.263G>T | gnomAD v4 |
6 | g.63788205C>G | CA450742962 | EYS | c.7623G>C (p.Leu2541=) c.937G>C n.263G>C | |
6 | g.63788205C>T | CA450742958 | EYS | c.7623G>A (p.Leu2541=) c.937G>A n.263G>A | gnomAD v4 |
6 | g.63788206A= | CA1633415726 | EYS | c.7622T= (p.Leu2541=) c.936T= n.262T= | |
6 | g.63788206A>C | CA364385417 | EYS | c.7622T>G (p.Leu2541Arg) c.936T>G n.262T>G | |
6 | g.63788206A>G | CA364385418 | EYS | c.7622T>C (p.Leu2541Pro) c.936T>C n.262T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788206A>T | CA364385420 | EYS | c.7622T>A (p.Leu2541Gln) c.936T>A n.262T>A | |
6 | g.63788207G>A | CA450742967 | EYS | c.7621C>T (p.Leu2541=) c.935C>T n.261C>T | |
6 | g.63788207G>C | CA364385422 | EYS | c.7621C>G (p.Leu2541Val) c.935C>G n.261C>G | |
6 | g.63788207G>T | CA364385424 | EYS | c.7621C>A (p.Leu2541Met) c.935C>A n.261C>A | |
6 | g.63788208T>A | CA364385437 | EYS | c.7620A>T (p.Arg2540Ser) c.934A>T n.260A>T | gnomAD v4 |
6 | g.63788208T>C | CA450742970 | EYS | c.7620A>G (p.Arg2540=) c.934A>G n.260A>G | |
6 | g.63788208T>G | CA10624512 | EYS | c.7620A>C (p.Arg2540Ser) c.934A>C n.260A>C | ClinVar dbSNP |
6 | g.63788208T= | CA1633415727 | EYS | c.7620A= (p.Arg2540=) c.934A= n.260A= | |
6 | g.63788209C>A | CA364385443 | EYS | c.7619G>T (p.Arg2540Ile) c.933G>T n.259G>T | |
6 | g.63788209C>G | CA364385447 | EYS | c.7619G>C (p.Arg2540Thr) c.933G>C n.259G>C | |
6 | g.63788209C>T | CA364385444 | EYS | c.7619G>A (p.Arg2540Lys) c.933G>A n.259G>A | gnomAD v4 |
6 | g.63788210T>A | CA364385449 | EYS | c.7618A>T (p.Arg2540Ter) c.932A>T n.258A>T | |
6 | g.63788210T>C | CA364385451 | EYS | c.7618A>G (p.Arg2540Gly) c.932A>G n.258A>G | COSMIC |
6 | g.63788210T>G | CA450742979 | EYS | c.7618A>C (p.Arg2540=) c.932A>C n.258A>C | |
6 | g.63788211T>A | CA450742982 | EYS | c.7617A>T (p.Gly2539=) c.931A>T n.257A>T | |
6 | g.63788211T>C | CA450742984 | EYS | c.7617A>G (p.Gly2539=) c.931A>G n.257A>G | ClinVar dbSNP |
6 | g.63788211T>G | CA450742981 | EYS | c.7617A>C (p.Gly2539=) c.931A>C n.257A>C | |
6 | g.63788211T= | CA1633415729 | EYS | c.7617A= (p.Gly2539=) c.931A= n.257A= | |
6 | g.63788211_63788212delinsTC | CA1633415728 | EYS | c.7616_7617delinsGA (p.Gly2539=) c.930_931delinsGA n.256_257delinsGA | |
6 | g.63788212C>A | CA364385453 | EYS | c.7616G>T (p.Gly2539Val) c.930G>T n.256G>T | gnomAD v4 |
6 | g.63788212C= | CA1633415730 | EYS | c.7616G= (p.Gly2539=) c.930G= n.256G= | |
6 | g.63788212C>G | CA364385455 | EYS | c.7616G>C (p.Gly2539Ala) c.930G>C n.256G>C | dbSNP gnomAD v4 |
6 | g.63788212C>T | CA364385457 | EYS | c.7616G>A (p.Gly2539Glu) c.930G>A n.256G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63788213del | CA826975955 | EYS | c.7616del (p.Gly2539GlufsTer14) c.930del n.256del | dbSNP |
6 | g.63788213C>A | CA364385460 | EYS | c.7615G>T (p.Gly2539Ter) c.929G>T n.255G>T | |
6 | g.63788213C>G | CA364385462 | EYS | c.7615G>C (p.Gly2539Arg) c.929G>C n.255G>C | |
6 | g.63788213C>T | CA364385464 | EYS | c.7615G>A (p.Gly2539Arg) c.929G>A n.255G>A | |
6 | g.63788214T>A | CA450742993 | EYS | c.7614A>T (p.Pro2538=) c.928A>T n.254A>T | |
6 | g.63788214T>C | CA450742994 | EYS | c.7614A>G (p.Pro2538=) c.928A>G n.254A>G | |
6 | g.63788214T>G | CA450742996 | EYS | c.7614A>C (p.Pro2538=) c.928A>C n.254A>C | |
6 | g.63788215G>A | CA364385467 | EYS | c.7613C>T (p.Pro2538Leu) c.927C>T n.253C>T | |
6 | g.63788215G>C | CA364385469 | EYS | c.7613C>G (p.Pro2538Arg) c.927C>G n.253C>G | |
6 | g.63788215G= | CA1633415731 | EYS | c.7613C= (p.Pro2538=) c.927C= n.253C= | |
6 | g.63788215G>T | CA364385471 | EYS | c.7613C>A (p.Pro2538Gln) c.927C>A n.253C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788218del | CA2695206599 | EYS | c.7613del (p.Pro2538GlnfsTer15) c.927del n.253del | |
6 | g.63788216G>A | CA364385479 | EYS | c.7612C>T (p.Pro2538Ser) c.926C>T n.252C>T | gnomAD v4 COSMIC |
6 | g.63788216G>C | CA364385473 | EYS | c.7612C>G (p.Pro2538Ala) c.926C>G n.252C>G | |
6 | g.63788216G>T | CA364385475 | EYS | c.7612C>A (p.Pro2538Thr) c.926C>A n.252C>A | |
6 | g.63788217G>A | CA450743002 | EYS | c.7611C>T (p.Ala2537=) c.925C>T n.251C>T | ClinVar dbSNP |
6 | g.63788217G>C | CA450743003 | EYS | c.7611C>G (p.Ala2537=) c.925C>G n.251C>G | |
6 | g.63788217G= | CA1633415732 | EYS | c.7611C= (p.Ala2537=) c.925C= n.251C= | |
6 | g.63788217G>T | CA450743004 | EYS | c.7611C>A (p.Ala2537=) c.925C>A n.251C>A | |
6 | g.63788218G>A | CA364385480 | EYS | c.7610C>T (p.Ala2537Val) c.924C>T n.250C>T | ClinVar dbSNP gnomAD v4 |
6 | g.63788218G>C | CA364385481 | EYS | c.7610C>G (p.Ala2537Gly) c.924C>G n.250C>G | gnomAD v4 |
6 | g.63788218G= | CA1633415733 | EYS | c.7610C= (p.Ala2537=) c.924C= n.250C= | |
6 | g.63788218G>T | CA364385482 | EYS | c.7610C>A (p.Ala2537Asp) c.924C>A n.250C>A | |
6 | g.63788219C>A | CA364385483 | EYS | c.7609G>T (p.Ala2537Ser) c.923G>T n.249G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788219C= | CA1633415734 | EYS | c.7609G= (p.Ala2537=) c.923G= n.249G= | |
6 | g.63788219C>G | CA364385484 | EYS | c.7609G>C (p.Ala2537Pro) c.923G>C n.249G>C | |
6 | g.63788219C>T | CA3876792 | EYS | c.7609G>A (p.Ala2537Thr) c.923G>A n.249G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63788220G>A | CA3876793 | EYS | c.7608C>T (p.Ile2536=) c.922C>T n.248C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63788220G>C | CA364385485 | EYS | c.7608C>G (p.Ile2536Met) c.922C>G n.248C>G | |
6 | g.63788220G= | CA1633415735 | EYS | c.7608C= (p.Ile2536=) c.922C= n.248C= | |
6 | g.63788220G>T | CA450743012 | EYS | c.7608C>A (p.Ile2536=) c.922C>A n.248C>A | |
6 | g.63788221A>C | CA364385486 | EYS | c.7607T>G (p.Ile2536Ser) c.921T>G n.247T>G | |
6 | g.63788221A>G | CA364385487 | EYS | c.7607T>C (p.Ile2536Thr) c.921T>C n.247T>C | |
6 | g.63788221A>T | CA364385488 | EYS | c.7607T>A (p.Ile2536Asn) c.921T>A n.247T>A | |
6 | g.63788222T>A | CA364385490 | EYS | c.7606A>T (p.Ile2536Phe) c.920A>T n.246A>T | |
6 | g.63788222T>C | CA364385491 | EYS | c.7606A>G (p.Ile2536Val) c.920A>G n.246A>G | gnomAD v4 |
6 | g.63788222T>G | CA364385489 | EYS | c.7606A>C (p.Ile2536Leu) c.920A>C n.246A>C | |
6 | g.63788223A>C | CA364385492 | EYS | c.7605T>G (p.Ile2535Met) c.919T>G n.245T>G | |
6 | g.63788223A>G | CA450743022 | EYS | c.7605T>C (p.Ile2535=) c.919T>C n.245T>C | |
6 | g.63788223A>T | CA450743021 | EYS | c.7605T>A (p.Ile2535=) c.919T>A n.245T>A | |
6 | g.63788224A>C | CA364385493 | EYS | c.7604T>G (p.Ile2535Ser) c.918T>G n.244T>G | |
6 | g.63788224A>G | CA364385494 | EYS | c.7604T>C (p.Ile2535Thr) c.918T>C n.244T>C | |
6 | g.63788224A>T | CA364385495 | EYS | c.7604T>A (p.Ile2535Asn) c.918T>A n.244T>A | |
6 | g.63788225T>A | CA364385496 | EYS | c.7603A>T (p.Ile2535Phe) c.917A>T n.243A>T | |
6 | g.63788225T>C | CA364385497 | EYS | c.7603A>G (p.Ile2535Val) c.917A>G n.243A>G | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788225T>G | CA364385498 | EYS | c.7603A>C (p.Ile2535Leu) c.917A>C n.243A>C | |
6 | g.63788225T= | CA1633415736 | EYS | c.7603A= (p.Ile2535=) c.917A= n.243A= | |
6 | g.63788226G>A | CA450743031 | EYS | c.7602C>T (p.Ser2534=) c.916C>T n.242C>T | |
6 | g.63788226G>C | CA450743032 | EYS | c.7602C>G (p.Ser2534=) c.916C>G n.242C>G | ClinVar |
6 | g.63788226G>T | CA450743034 | EYS | c.7602C>A (p.Ser2534=) c.916C>A n.242C>A | ClinVar |
6 | g.63788227G>A | CA364385499 | EYS | c.7601C>T (p.Ser2534Phe) c.915C>T n.241C>T | |
6 | g.63788227G>C | CA364385500 | EYS | c.7601C>G (p.Ser2534Cys) c.915C>G n.241C>G | |
6 | g.63788227G>T | CA364385502 | EYS | c.7601C>A (p.Ser2534Tyr) c.915C>A n.241C>A | gnomAD v4 |
6 | g.63788228A= | CA1633415737 | EYS | c.7600T= (p.Ser2534=) c.914T= n.240T= | |
6 | g.63788228A>C | CA364385503 | EYS | c.7600T>G (p.Ser2534Ala) c.914T>G n.240T>G | |
6 | g.63788228A>G | CA364385504 | EYS | c.7600T>C (p.Ser2534Pro) c.914T>C n.240T>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788228A>T | CA364385505 | EYS | c.7600T>A (p.Ser2534Thr) c.914T>A n.240T>A | |
6 | g.63788229T>A | CA364385506 | EYS | c.7599A>T (p.Lys2533Asn) c.913A>T n.239A>T | |
6 | g.63788229T>C | CA450743043 | EYS | c.7599A>G (p.Lys2533=) c.913A>G n.239A>G | |
6 | g.63788229T>G | CA140243941 | EYS | c.7599A>C (p.Lys2533Asn) c.913A>C n.239A>C | dbSNP gnomAD v4 |
6 | g.63788229T= | CA1633415738 | EYS | c.7599A= (p.Lys2533=) c.913A= n.239A= | |
6 | g.63788231del | CA2679298333 | EYS | c.7599del (p.Lys2533AsnfsTer20) c.913del n.239del | gnomAD v4 |
6 | g.63788230T>A | CA364385507 | EYS | c.7598A>T (p.Lys2533Ile) c.912A>T n.238A>T | |
6 | g.63788230T>C | CA364385508 | EYS | c.7598A>G (p.Lys2533Arg) c.912A>G n.238A>G | |
6 | g.63788230T>G | CA364385509 | EYS | c.7598A>C (p.Lys2533Thr) c.912A>C n.238A>C | |
6 | g.63788231T>A | CA364385510 | EYS | c.7597A>T (p.Lys2533Ter) c.911A>T n.237A>T | ClinVar dbSNP |
6 | g.63788231T>C | CA3876794 | EYS | c.7597A>G (p.Lys2533Glu) c.911A>G n.237A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788231T>G | CA364385511 | EYS | c.7597A>C (p.Lys2533Gln) c.911A>C n.237A>C | |
6 | g.63788231T= | CA1633415739 | EYS | c.7597A= (p.Lys2533=) c.911A= n.237A= | |
6 | g.63788232A>C | CA364385512 | EYS | c.7596T>G (p.Asn2532Lys) c.910T>G n.236T>G | |
6 | g.63788232A>G | CA450743052 | EYS | c.7596T>C (p.Asn2532=) c.910T>C n.236T>C | ClinVar dbSNP |
6 | g.63788232A>T | CA364385513 | EYS | c.7596T>A (p.Asn2532Lys) c.910T>A n.236T>A | |
6 | g.63788233T>A | CA364385514 | EYS | c.7595A>T (p.Asn2532Ile) c.909A>T n.235A>T | |
6 | g.63788233T>C | CA364385515 | EYS | c.7595A>G (p.Asn2532Ser) c.909A>G n.235A>G | |
6 | g.63788233T>G | CA364385516 | EYS | c.7595A>C (p.Asn2532Thr) c.909A>C n.235A>C | |
6 | g.63788234T>A | CA364385517 | EYS | c.7594A>T (p.Asn2532Tyr) c.908A>T n.234A>T | |
6 | g.63788234T>C | CA364385518 | EYS | c.7594A>G (p.Asn2532Asp) c.908A>G n.234A>G | |
6 | g.63788234T>G | CA3876795 | EYS | c.7594A>C (p.Asn2532His) c.908A>C n.234A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.63788234T= | CA1633415740 | EYS | c.7594A= (p.Asn2532=) c.908A= n.234A= | |
6 | g.63788235T>A | CA364385520 | EYS | c.7593A>T (p.Lys2531Asn) c.907A>T n.233A>T | |
6 | g.63788235T>C | CA450743060 | EYS | c.7593A>G (p.Lys2531=) c.907A>G n.233A>G | |
6 | g.63788235T>G | CA364385519 | EYS | c.7593A>C (p.Lys2531Asn) c.907A>C n.233A>C | |
6 | g.63788236T>A | CA364385521 | EYS | c.7592A>T (p.Lys2531Ile) c.906A>T n.232A>T | |
6 | g.63788236T>C | CA364385523 | EYS | c.7592A>G (p.Lys2531Arg) c.906A>G n.232A>G | gnomAD v4 |
6 | g.63788236T>G | CA364385522 | EYS | c.7592A>C (p.Lys2531Thr) c.906A>C n.232A>C | |
6 | g.63788237T>A | CA364385524 | EYS | c.7591A>T (p.Lys2531Ter) c.905A>T n.231A>T | |
6 | g.63788237T>C | CA140243942 | EYS | c.7591A>G (p.Lys2531Glu) c.905A>G n.231A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788237T>G | CA364385525 | EYS | c.7591A>C (p.Lys2531Gln) c.905A>C n.231A>C | dbSNP gnomAD v4 |
6 | g.63788237T= | CA1633415741 | EYS | c.7591A= (p.Lys2531=) c.905A= n.231A= | |
6 | g.63788238A= | CA1633415742 | EYS | c.7590T= (p.His2530=) c.904T= n.230T= | |
6 | g.63788238A>C | CA364385526 | EYS | c.7590T>G (p.His2530Gln) c.904T>G n.230T>G | dbSNP |
6 | g.63788238A>G | CA450743071 | EYS | c.7590T>C (p.His2530=) c.904T>C n.230T>C | |
6 | g.63788238A>T | CA364385527 | EYS | c.7590T>A (p.His2530Gln) c.904T>A n.230T>A | gnomAD v4 |
6 | g.63788239T>A | CA364385528 | EYS | c.7589A>T (p.His2530Leu) c.903A>T n.229A>T | |
6 | g.63788239T>C | CA364385529 | EYS | c.7589A>G (p.His2530Arg) c.903A>G n.229A>G | |
6 | g.63788239T>G | CA364385530 | EYS | c.7589A>C (p.His2530Pro) c.903A>C n.229A>C | |
6 | g.63788240G>A | CA140243943 | EYS | c.7588C>T (p.His2530Tyr) c.902C>T n.228C>T | dbSNP gnomAD v4 |
6 | g.63788240G>C | CA364385531 | EYS | c.7588C>G (p.His2530Asp) c.902C>G n.228C>G | |
6 | g.63788240G= | CA1633415743 | EYS | c.7588C= (p.His2530=) c.902C= n.228C= | |
6 | g.63788240G>T | CA364385532 | EYS | c.7588C>A (p.His2530Asn) c.902C>A n.228C>A | |
6 | g.63788241A>C | CA364385533 | EYS | c.7587T>G (p.Asp2529Glu) c.901T>G n.227T>G | |
6 | g.63788241A>G | CA450743080 | EYS | c.7587T>C (p.Asp2529=) c.901T>C n.227T>C | |
6 | g.63788241A>T | CA364385534 | EYS | c.7587T>A (p.Asp2529Glu) c.901T>A n.227T>A | |
6 | g.63788242T>A | CA364385535 | EYS | c.7586A>T (p.Asp2529Val) c.900A>T n.226A>T | |
6 | g.63788242T>C | CA364385536 | EYS | c.7586A>G (p.Asp2529Gly) c.900A>G n.226A>G | |
6 | g.63788242T>G | CA364385537 | EYS | c.7586A>C (p.Asp2529Ala) c.900A>C n.226A>C | |
6 | g.63788243C>A | CA364385540 | EYS | c.7585G>T (p.Asp2529Tyr) c.899G>T n.225G>T | |
6 | g.63788243C= | CA1633415744 | EYS | c.7585G= (p.Asp2529=) c.899G= n.225G= | |
6 | g.63788243C>G | CA364385538 | EYS | c.7585G>C (p.Asp2529His) c.899G>C n.225G>C | gnomAD v4 |
6 | g.63788243C>T | CA364385539 | EYS | c.7585G>A (p.Asp2529Asn) c.899G>A n.225G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.63788244A>C | CA364385541 | EYS | c.7584T>G (p.Asp2528Glu) c.898T>G n.224T>G | |
6 | g.63788244A>G | CA450743090 | EYS | c.7584T>C (p.Asp2528=) c.898T>C n.224T>C | gnomAD v4 |
6 | g.63788244A>T | CA364385542 | EYS | c.7584T>A (p.Asp2528Glu) c.898T>A n.224T>A | |
6 | g.63788245del | CA2739273205 | EYS | c.7583del (p.Asp2528ValfsTer25) c.897del n.223del | ClinVar |
6 | g.63788245T>A | CA364385543 | EYS | c.7583A>T (p.Asp2528Val) c.897A>T n.223A>T | |
6 | g.63788245T>C | CA364385544 | EYS | c.7583A>G (p.Asp2528Gly) c.897A>G n.223A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788245T>G | CA364385545 | EYS | c.7583A>C (p.Asp2528Ala) c.897A>C n.223A>C | |
6 | g.63788245T= | CA1633415745 | EYS | c.7583A= (p.Asp2528=) c.897A= n.223A= | |
6 | g.63788246C>A | CA364385546 | EYS | c.7582G>T (p.Asp2528Tyr) c.896G>T n.222G>T | gnomAD v4 |
6 | g.63788246C>G | CA364385547 | EYS | c.7582G>C (p.Asp2528His) c.896G>C n.222G>C | |
6 | g.63788246C>T | CA364385548 | EYS | c.7582G>A (p.Asp2528Asn) c.896G>A n.222G>A | COSMIC |
6 | g.63788247del | CA2771459623 | EYS | c.7581del (p.Asp2528MetfsTer25) c.895del n.221del | |
6 | g.63788247T>A | CA450743100 | EYS | c.7581A>T (p.Val2527=) c.895A>T n.221A>T | |
6 | g.63788247T>C | CA450743102 | EYS | c.7581A>G (p.Val2527=) c.895A>G n.221A>G | |
6 | g.63788247T>G | CA450743099 | EYS | c.7581A>C (p.Val2527=) c.895A>C n.221A>C | |
6 | g.63788248A= | CA1633415746 | EYS | c.7580T= (p.Val2527=) c.894T= n.220T= | |
6 | g.63788248A>C | CA364385549 | EYS | c.7580T>G (p.Val2527Gly) c.894T>G n.220T>G | |
6 | g.63788248A>G | CA364385550 | EYS | c.7580T>C (p.Val2527Ala) c.894T>C n.220T>C | dbSNP gnomAD v4 |
6 | g.63788248A>T | CA364385551 | EYS | c.7580T>A (p.Val2527Glu) c.894T>A n.220T>A | |
6 | g.63788249C>A | CA364385553 | EYS | c.7579G>T (p.Val2527Leu) c.893G>T n.219G>T | gnomAD v4 |
6 | g.63788249C>G | CA364385554 | EYS | c.7579G>C (p.Val2527Leu) c.893G>C n.219G>C | |
6 | g.63788249C>T | CA364385552 | EYS | c.7579G>A (p.Val2527Ile) c.893G>A n.219G>A | gnomAD v4 |
6 | g.63788249_63788250insACA | CA2771459625 | EYS | c.7579-1_7579insTGT (n.7579-1_7579insTGT) c.893-1_893insTGT n.219-1_219insTGT | |
6 | g.63788250C>A | CA364385555 | EYS | c.7579-1G>T (n.7579-1G>T) c.893-1G>T n.219-1G>T | ClinVar gnomAD v4 COSMIC |
6 | g.63788250C>G | CA364385556 | EYS | c.7579-1G>C (n.7579-1G>C) c.893-1G>C n.219-1G>C | |
6 | g.63788250C>T | CA364385557 | EYS | c.7579-1G>A (n.7579-1G>A) c.893-1G>A n.219-1G>A | gnomAD v4 |
6 | g.63788250_63788251delinsCT | CA1633415747 | EYS | c.7579-2_7579-1delinsAG (n.7579-2_7579-1delinsAG) c.893-2_893-1delinsAG n.219-2_219-1delinsAG | |
6 | g.63788250_63788251insACA | CA2771459626 | EYS | c.7579-2_7579-1insTGT (n.7579-2_7579-1insTGT) c.893-2_893-1insTGT n.219-2_219-1insTGT | |
6 | g.63788251T>A | CA364385558 | EYS | c.7579-2A>T (n.7579-2A>T) c.893-2A>T n.219-2A>T | |
6 | g.63788251T>C | CA364385559 | EYS | c.7579-2A>G (n.7579-2A>G) c.893-2A>G n.219-2A>G | gnomAD v4 |
6 | g.63788251T>G | CA364385560 | EYS | c.7579-2A>C (n.7579-2A>C) c.893-2A>C n.219-2A>C | |
6 | g.63788252del | CA140243944 | EYS | c.7579-2del (n.7579-2del) c.893-2del n.219-2del | dbSNP gnomAD v4 |
6 | g.63788253C>A | CA1089794913 | EYS | c.7579-4G>T (n.7579-4G>T) c.893-4G>T n.219-4G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788253C= | CA1633415748 | EYS | c.7579-4G= (n.7579-4G=) c.893-4G= n.219-4G= | |
6 | g.63788253C>G | CA2771459627 | EYS | c.7579-4G>C (n.7579-4G>C) c.893-4G>C n.219-4G>C | |
6 | g.63788253C>T | CA826976018 | EYS | c.7579-4G>A (n.7579-4G>A) c.893-4G>A n.219-4G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788254del | CA2771459628 | EYS | c.7579-5del (n.7579-5del) c.893-5del n.219-5del | |
6 | g.63788254G>A | CA140243945 | EYS | c.7579-5C>T (n.7579-5C>T) c.893-5C>T n.219-5C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788254G= | CA1633415749 | EYS | c.7579-5C= (n.7579-5C=) c.893-5C= n.219-5C= | |
6 | g.63788254_63788255del | CA2771459629 | EYS | c.7579-6_7579-5del (n.7579-6_7579-5del) c.893-6_893-5del n.219-6_219-5del | |
6 | g.63788255A>T | CA2739273206 | EYS | c.7579-6T>A (n.7579-6T>A) c.893-6T>A n.219-6T>A | ClinVar |
6 | g.63788256A>C | CA2771459630 | EYS | c.7579-7T>G (n.7579-7T>G) c.893-7T>G n.219-7T>G | |
6 | g.63788256_63788257insCT | CA2771459631 | EYS | c.7579-8_7579-7insAG (n.7579-8_7579-7insAG) c.893-8_893-7insAG n.219-8_219-7insAG | |
6 | g.63788256_63788257insTTGTGTGTGTGTGTGTGTGTT | CA2679298334 | EYS | c.7579-8_7579-7insAACACACACACACACACACAA (n.7579-8_7579-7insAACACACACACACACACACAA) c.893-8_893-7insAACACACACACACACACACAA n.219-8_219-7insAACACACACACACACACACAA | gnomAD v4 |
6 | g.63788257A= | CA1633415750 | EYS | c.7579-8T= (n.7579-8T=) c.893-8T= n.219-8T= | |
6 | g.63788257A>G | CA2679298335 | EYS | c.7579-8T>C (n.7579-8T>C) c.893-8T>C n.219-8T>C | gnomAD v4 |
6 | g.63788258G>A | CA140243947 | EYS | c.7579-9C>T (n.7579-9C>T) c.893-9C>T n.219-9C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788258G= | CA1633415751 | EYS | c.7579-9C= (n.7579-9C=) c.893-9C= n.219-9C= | |
6 | g.63788258_63788260del | CA2679298336 | EYS | c.7579-11_7579-9del (n.7579-11_7579-9del) c.893-11_893-9del n.219-11_219-9del | gnomAD v4 |
6 | g.63788260dup | CA140243946 | EYS | c.7579-9dup (n.7579-9dup) c.893-9dup n.219-9dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788259G>A | CA2679298337 | EYS | c.7579-10C>T (n.7579-10C>T) c.893-10C>T n.219-10C>T | gnomAD v4 |
6 | g.63788259_63788260insAT | CA2679298340 | EYS | c.7579-11_7579-10insAT (n.7579-11_7579-10insAT) c.893-11_893-10insAT n.219-11_219-10insAT | gnomAD v4 |
6 | g.63788260G>A | CA2679298339 | EYS | c.7579-11C>T (n.7579-11C>T) c.893-11C>T n.219-11C>T | gnomAD v4 |
6 | g.63788260G>C | CA2679298338 | EYS | c.7579-11C>G (n.7579-11C>G) c.893-11C>G n.219-11C>G | gnomAD v4 |
6 | g.63788260_63788261delinsGA | CA1633415752 | EYS | c.7579-12_7579-11delinsTC (n.7579-12_7579-11delinsTC) c.893-12_893-11delinsTC n.219-12_219-11delinsTC | |
6 | g.63788261A= | CA1633415753 | EYS | c.7579-12T= (n.7579-12T=) c.893-12T= n.219-12T= | |
6 | g.63788261A>G | CA140243948 | EYS | c.7579-12T>C (n.7579-12T>C) c.893-12T>C n.219-12T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788268dup | CA3876796 | EYS | c.7579-12dup (n.7579-12dup) c.893-12dup n.219-12dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788268del | CA567703044 | EYS | c.7579-12del (n.7579-12del) c.893-12del n.219-12del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788262A>G | CA2679298341 | EYS | c.7579-13T>C (n.7579-13T>C) c.893-13T>C n.219-13T>C | gnomAD v4 |
6 | g.63788263A>C | CA2679298342 | EYS | c.7579-14T>G (n.7579-14T>G) c.893-14T>G n.219-14T>G | gnomAD v4 |
6 | g.63788263A>G | CA2679298343 | EYS | c.7579-14T>C (n.7579-14T>C) c.893-14T>C n.219-14T>C | gnomAD v4 |
6 | g.63788265A>G | CA2679298344 | EYS | c.7579-16T>C (n.7579-16T>C) c.893-16T>C n.219-16T>C | gnomAD v4 |
6 | g.63788266A= | CA1633415754 | EYS | c.7579-17T= (n.7579-17T=) c.893-17T= n.219-17T= | |
6 | g.63788266A>T | CA567703045 | EYS | c.7579-17T>A (n.7579-17T>A) c.893-17T>A n.219-17T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788266_63788267insCCAAACACACCC | CA2771459632 | EYS | c.7579-18_7579-17insGGGTGTGTTTGG (n.7579-18_7579-17insGGGTGTGTTTGG) c.893-18_893-17insGGGTGTGTTTGG n.219-18_219-17insGGGTGTGTTTGG | |
6 | g.63788267A= | CA1633415755 | EYS | c.7579-18T= (n.7579-18T=) c.893-18T= n.219-18T= | |
6 | g.63788267A>C | CA567703046 | EYS | c.7579-18T>G (n.7579-18T>G) c.893-18T>G n.219-18T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788267A>T | CA567703047 | EYS | c.7579-18T>A (n.7579-18T>A) c.893-18T>A n.219-18T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788267_63788268insCCCCCAAACACACCCAACAC | CA2771459633 | EYS | c.7579-19_7579-18insGTGTTGGGTGTGTTTGGGGG (n.7579-19_7579-18insGTGTTGGGTGTGTTTGGGGG) c.893-19_893-18insGTGTTGGGTGTGTTTGGGGG n.219-19_219-18insGTGTTGGGTGTGTTTGGGGG | |
6 | g.63788268A= | CA1633415756 | EYS | c.7579-19T= (n.7579-19T=) c.893-19T= n.219-19T= | |
6 | g.63788268A>G | CA3876797 | EYS | c.7579-19T>C (n.7579-19T>C) c.893-19T>C n.219-19T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.63788269C>A | CA3876798 | EYS | c.7579-20G>T (n.7579-20G>T) c.893-20G>T n.219-20G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788269C= | CA1633415757 | EYS | c.7579-20G= (n.7579-20G=) c.893-20G= n.219-20G= | |
6 | g.63788269C>T | CA2679298345 | EYS | c.7579-20G>A (n.7579-20G>A) c.893-20G>A n.219-20G>A | gnomAD v4 |
6 | g.63788270C>A | CA2679298347 | EYS | c.7579-21G>T (n.7579-21G>T) c.893-21G>T n.219-21G>T | gnomAD v4 |
6 | g.63788270C>T | CA2679298346 | EYS | c.7579-21G>A (n.7579-21G>A) c.893-21G>A n.219-21G>A | gnomAD v4 |
6 | g.63788271T>A | CA3876799 | EYS | c.7579-22A>T (n.7579-22A>T) c.893-22A>T n.219-22A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.63788271T>C | CA1633415758 | EYS | c.7579-22A>G (n.7579-22A>G) c.893-22A>G n.219-22A>G | dbSNP gnomAD v4 |
6 | g.63788271T= | CA1633415759 | EYS | c.7579-22A= (n.7579-22A=) c.893-22A= n.219-22A= | |
6 | g.63788272A= | CA1633415760 | EYS | c.7579-23T= (n.7579-23T=) c.893-23T= n.219-23T= | |
6 | g.63788272A>G | CA567703048 | EYS | c.7579-23T>C (n.7579-23T>C) c.893-23T>C n.219-23T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788273T>C | CA826976056 | EYS | c.7579-24A>G (n.7579-24A>G) c.893-24A>G n.219-24A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788273T= | CA1633415761 | EYS | c.7579-24A= (n.7579-24A=) c.893-24A= n.219-24A= | |
6 | g.63788274T>C | CA2679298348 | EYS | c.7579-25A>G (n.7579-25A>G) c.893-25A>G n.219-25A>G | gnomAD v4 |
6 | g.63788274_63788275delinsTA | CA1633415762 | EYS | c.7579-26_7579-25delinsTA (n.7579-26_7579-25delinsTA) c.893-26_893-25delinsTA n.219-26_219-25delinsTA | |
6 | g.63788280dup | CA140243949 | EYS | c.7579-26dup (n.7579-26dup) c.893-26dup n.219-26dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788280del | CA140243950 | EYS | c.7579-26del (n.7579-26del) c.893-26del n.219-26del | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788276A>T | CA2679298349 | EYS | c.7579-27T>A (n.7579-27T>A) c.893-27T>A n.219-27T>A | gnomAD v4 |