Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.63721365T>A | CA364384250 | EYS,PHF3 | c.*7657T>A (n.*7657T>A) c.8666A>T (p.Glu2889Val) c.8729A>T (p.Glu2910Val) c.363+10003T>A | |
6 | g.63721365T>C | CA364384251 | EYS,PHF3 | c.*7657T>C (n.*7657T>C) c.8666A>G (p.Glu2889Gly) c.8729A>G (p.Glu2910Gly) c.363+10003T>C | |
6 | g.63721365T>G | CA364384252 | EYS,PHF3 | c.*7657T>G (n.*7657T>G) c.8666A>C (p.Glu2889Ala) c.8729A>C (p.Glu2910Ala) c.363+10003T>G | |
6 | g.63721365_63721366insTG | CA2555608356 | EYS,PHF3 | c.*7657_*7658insTG (n.*7657_*7658insTG) c.8665_8666insCA (p.Glu2889AlafsTer5) c.8728_8729insCA (p.Glu2910AlafsTer5) c.363+10003_363+10004insTG | |
6 | g.63721366C>A | CA364384254 | EYS,PHF3 | c.*7658C>A (n.*7658C>A) c.8665G>T (p.Glu2889Ter) c.8728G>T (p.Glu2910Ter) c.363+10004C>A | |
6 | g.63721366C= | CA1633381811 | EYS,PHF3 | c.*7658C= (n.*7658C=) c.8665G= (p.Glu2889=) c.8728G= (p.Glu2910=) c.363+10004C= | |
6 | g.63721366C>G | CA364384255 | EYS,PHF3 | c.*7658C>G (n.*7658C>G) c.8665G>C (p.Glu2889Gln) c.8728G>C (p.Glu2910Gln) c.363+10004C>G | dbSNP gnomAD v2 |
6 | g.63721366C>T | CA364384253 | EYS,PHF3 | c.*7658C>T (n.*7658C>T) c.8665G>A (p.Glu2889Lys) c.8728G>A (p.Glu2910Lys) c.363+10004C>T | dbSNP gnomAD v4 |
6 | g.63721367A= | CA1633381813 | EYS,PHF3 | c.*7659A= (n.*7659A=) c.8664T= (p.Gly2888=) c.8727T= (p.Gly2909=) c.363+10005A= | |
6 | g.63721367A>C | CA450862559 | EYS,PHF3 | c.*7659A>C (n.*7659A>C) c.8664T>G (p.Gly2888=) c.8727T>G (p.Gly2909=) c.363+10005A>C | dbSNP |
6 | g.63721367A>G | CA450862561 | EYS,PHF3 | c.*7659A>G (n.*7659A>G) c.8664T>C (p.Gly2888=) c.8727T>C (p.Gly2909=) c.363+10005A>G | |
6 | g.63721367A>T | CA450862565 | EYS,PHF3 | c.*7659A>T (n.*7659A>T) c.8664T>A (p.Gly2888=) c.8727T>A (p.Gly2909=) c.363+10005A>T | |
6 | g.63721368C>A | CA364384256 | EYS,PHF3 | c.*7660C>A (n.*7660C>A) c.8663G>T (p.Gly2888Val) c.8726G>T (p.Gly2909Val) c.363+10006C>A | |
6 | g.63721368C= | CA1633381815 | EYS,PHF3 | c.*7660C= (n.*7660C=) c.8663G= (p.Gly2888=) c.8726G= (p.Gly2909=) c.363+10006C= | |
6 | g.63721368C>G | CA3876701 | EYS,PHF3 | c.*7660C>G (n.*7660C>G) c.8663G>C (p.Gly2888Ala) c.8726G>C (p.Gly2909Ala) c.363+10006C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
6 | g.63721368C>T | CA140236833 | EYS,PHF3 | c.*7660C>T (n.*7660C>T) c.8663G>A (p.Gly2888Asp) c.8726G>A (p.Gly2909Asp) c.363+10006C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63721370_63721372del | CA2679279892 | EYS,PHF3 | c.*7662_*7664del (n.*7662_*7664del) c.8661_8663del (p.Gly2888del) c.8724_8726del (p.Gly2909del) c.363+10008_363+10010del | gnomAD v4 |
6 | g.63721369C>A | CA364384257 | EYS,PHF3 | c.*7661C>A (n.*7661C>A) c.8662G>T (p.Gly2888Cys) c.8725G>T (p.Gly2909Cys) c.363+10007C>A | |
6 | g.63721369C>G | CA364384258 | EYS,PHF3 | c.*7661C>G (n.*7661C>G) c.8662G>C (p.Gly2888Arg) c.8725G>C (p.Gly2909Arg) c.363+10007C>G | |
6 | g.63721369C>T | CA364384259 | EYS,PHF3 | c.*7661C>T (n.*7661C>T) c.8662G>A (p.Gly2888Ser) c.8725G>A (p.Gly2909Ser) c.363+10007C>T | |
6 | g.63721370T>A | CA450862570 | EYS,PHF3 | c.*7662T>A (n.*7662T>A) c.8661A>T (p.Gly2887=) c.8724A>T (p.Gly2908=) c.363+10008T>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721370T>C | CA450862571 | EYS,PHF3 | c.*7662T>C (n.*7662T>C) c.8661A>G (p.Gly2887=) c.8724A>G (p.Gly2908=) c.363+10008T>C | |
6 | g.63721370T>G | CA450862568 | EYS,PHF3 | c.*7662T>G (n.*7662T>G) c.8661A>C (p.Gly2887=) c.8724A>C (p.Gly2908=) c.363+10008T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721370T= | CA1633381817 | EYS,PHF3 | c.*7662T= (n.*7662T=) c.8661A= (p.Gly2887=) c.8724A= (p.Gly2908=) c.363+10008T= | |
6 | g.63721371C>A | CA364384262 | EYS,PHF3 | c.*7663C>A (n.*7663C>A) c.8660G>T (p.Gly2887Val) c.8723G>T (p.Gly2908Val) c.363+10009C>A | |
6 | g.63721371C>G | CA364384260 | EYS,PHF3 | c.*7663C>G (n.*7663C>G) c.8660G>C (p.Gly2887Ala) c.8723G>C (p.Gly2908Ala) c.363+10009C>G | |
6 | g.63721371C>T | CA364384261 | EYS,PHF3 | c.*7663C>T (n.*7663C>T) c.8660G>A (p.Gly2887Glu) c.8723G>A (p.Gly2908Glu) c.363+10009C>T | |
6 | g.63721371_63721372del | CA2515001747 | EYS,PHF3 | c.*7663_*7664del (n.*7663_*7664del) c.8659_8660del (p.Gly2887ArgfsTer2) c.8722_8723del (p.Gly2908ArgfsTer2) c.363+10009_363+10010del | |
6 | g.63721372C>A | CA364384263 | EYS,PHF3 | c.*7664C>A (n.*7664C>A) c.8659G>T (p.Gly2887Ter) c.8722G>T (p.Gly2908Ter) c.363+10010C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721372C= | CA1633381819 | EYS,PHF3 | c.*7664C= (n.*7664C=) c.8659G= (p.Gly2887=) c.8722G= (p.Gly2908=) c.363+10010C= | |
6 | g.63721372C>G | CA364384264 | EYS,PHF3 | c.*7664C>G (n.*7664C>G) c.8659G>C (p.Gly2887Arg) c.8722G>C (p.Gly2908Arg) c.363+10010C>G | |
6 | g.63721372C>T | CA364384265 | EYS,PHF3 | c.*7664C>T (n.*7664C>T) c.8659G>A (p.Gly2887Arg) c.8722G>A (p.Gly2908Arg) c.363+10010C>T | gnomAD v4 |
6 | g.63721373A>C | CA364384266 | EYS,PHF3 | c.*7665A>C (n.*7665A>C) c.8658T>G (p.Asn2886Lys) c.8721T>G (p.Asn2907Lys) c.363+10011A>C | |
6 | g.63721373A>G | CA450862574 | EYS,PHF3 | c.*7665A>G (n.*7665A>G) c.8658T>C (p.Asn2886=) c.8721T>C (p.Asn2907=) c.363+10011A>G | ClinVar dbSNP |
6 | g.63721373A>T | CA364384267 | EYS,PHF3 | c.*7665A>T (n.*7665A>T) c.8658T>A (p.Asn2886Lys) c.8721T>A (p.Asn2907Lys) c.363+10011A>T | |
6 | g.63721374T>A | CA364384268 | EYS,PHF3 | c.*7666T>A (n.*7666T>A) c.8657A>T (p.Asn2886Ile) c.8720A>T (p.Asn2907Ile) c.363+10012T>A | |
6 | g.63721374T>C | CA364384270 | EYS,PHF3 | c.*7666T>C (n.*7666T>C) c.8657A>G (p.Asn2886Ser) c.8720A>G (p.Asn2907Ser) c.363+10012T>C | |
6 | g.63721374T>G | CA364384269 | EYS,PHF3 | c.*7666T>G (n.*7666T>G) c.8657A>C (p.Asn2886Thr) c.8720A>C (p.Asn2907Thr) c.363+10012T>G | |
6 | g.63721376del | CA140236834 | EYS,PHF3 | c.*7668del (n.*7668del) c.8657del (p.Asn2886MetfsTer7) c.8720del (p.Asn2907MetfsTer7) c.363+10014del | |
6 | g.63721375T>A | CA364384271 | EYS,PHF3 | c.*7667T>A (n.*7667T>A) c.8656A>T (p.Asn2886Tyr) c.8719A>T (p.Asn2907Tyr) c.363+10013T>A | |
6 | g.63721375T>C | CA364384272 | EYS,PHF3 | c.*7667T>C (n.*7667T>C) c.8656A>G (p.Asn2886Asp) c.8719A>G (p.Asn2907Asp) c.363+10013T>C | |
6 | g.63721375T>G | CA364384273 | EYS,PHF3 | c.*7667T>G (n.*7667T>G) c.8656A>C (p.Asn2886His) c.8719A>C (p.Asn2907His) c.363+10013T>G | |
6 | g.63721375_63721383delinsTTCTGCATG | CA1633381821 | EYS,PHF3 | c.*7667_*7675delinsTTCTGCATG (n.*7667_*7675delinsTTCTGCATG) c.8648_8656delinsCATGCAGAA (p.Thr2883=) c.8711_8719delinsCATGCAGAA (p.Thr2904=) c.363+10013_363+10021delinsTTCTGCATG | |
6 | g.63721376_63721384del | CA913111494 | EYS,PHF3 | c.*7668_*7676del (n.*7668_*7676del) c.8648_8656del (p.Thr2883_Arg2885del) c.8711_8719del (p.Thr2904_Arg2906del) c.363+10014_363+10022del | |
6 | g.63721376T>A | CA364384274 | EYS,PHF3 | c.*7668T>A (n.*7668T>A) c.8655A>T (p.Arg2885Ser) c.8718A>T (p.Arg2906Ser) c.363+10014T>A | |
6 | g.63721376T>C | CA450862576 | EYS,PHF3 | c.*7668T>C (n.*7668T>C) c.8655A>G (p.Arg2885=) c.8718A>G (p.Arg2906=) c.363+10014T>C | |
6 | g.63721376T>G | CA364384275 | EYS,PHF3 | c.*7668T>G (n.*7668T>G) c.8655A>C (p.Arg2885Ser) c.8718A>C (p.Arg2906Ser) c.363+10014T>G | |
6 | g.63721377_63721384dup | CA1633381824 | EYS,PHF3 | c.*7669_*7676dup (n.*7669_*7676dup) c.8648_8655dup (p.Asn2886HisfsTer10) c.8711_8718dup (p.Asn2907HisfsTer10) c.363+10015_363+10022dup | dbSNP |
6 | g.63721377_63721384del | CA3876702 | EYS,PHF3 | c.*7669_*7676del (n.*7669_*7676del) c.8648_8655del (p.Thr2883LysfsTer4) c.8711_8718del (p.Thr2904LysfsTer4) c.363+10015_363+10022del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721377C>A | CA364384276 | EYS,PHF3 | c.*7669C>A (n.*7669C>A) c.8654G>T (p.Arg2885Ile) c.8717G>T (p.Arg2906Ile) c.363+10015C>A | |
6 | g.63721377C>G | CA364384277 | EYS,PHF3 | c.*7669C>G (n.*7669C>G) c.8654G>C (p.Arg2885Thr) c.8717G>C (p.Arg2906Thr) c.363+10015C>G | |
6 | g.63721377C>T | CA364384278 | EYS,PHF3 | c.*7669C>T (n.*7669C>T) c.8654G>A (p.Arg2885Lys) c.8717G>A (p.Arg2906Lys) c.363+10015C>T | |
6 | g.63721377_63721381del | CA1089784815 | EYS,PHF3 | c.*7669_*7673del (n.*7669_*7673del) c.8650_8654del (p.Cys2884LysfsTer4) c.8713_8717del (p.Cys2905LysfsTer4) c.363+10015_363+10019del | |
6 | g.63721378T>A | CA364384279 | EYS,PHF3 | c.*7670T>A (n.*7670T>A) c.8653A>T (p.Arg2885Ter) c.8716A>T (p.Arg2906Ter) c.363+10016T>A | |
6 | g.63721378T>C | CA364384280 | EYS,PHF3 | c.*7670T>C (n.*7670T>C) c.8653A>G (p.Arg2885Gly) c.8716A>G (p.Arg2906Gly) c.363+10016T>C | |
6 | g.63721378T>G | CA450862577 | EYS,PHF3 | c.*7670T>G (n.*7670T>G) c.8653A>C (p.Arg2885=) c.8716A>C (p.Arg2906=) c.363+10016T>G | |
6 | g.63721379G>A | CA450862580 | EYS,PHF3 | c.*7671G>A (n.*7671G>A) c.8652C>T (p.Cys2884=) c.8715C>T (p.Cys2905=) c.363+10017G>A | |
6 | g.63721379G>C | CA364384281 | EYS,PHF3 | c.*7671G>C (n.*7671G>C) c.8652C>G (p.Cys2884Trp) c.8715C>G (p.Cys2905Trp) c.363+10017G>C | |
6 | g.63721379G= | CA1633381827 | EYS,PHF3 | c.*7671G= (n.*7671G=) c.8652C= (p.Cys2884=) c.8715C= (p.Cys2905=) c.363+10017G= | |
6 | g.63721379G>T | CA140236835 | EYS,PHF3 | c.*7671G>T (n.*7671G>T) c.8652C>A (p.Cys2884Ter) c.8715C>A (p.Cys2905Ter) c.363+10017G>T | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721380C>A | CA364384283 | EYS,PHF3 | c.*7672C>A (n.*7672C>A) c.8651G>T (p.Cys2884Phe) c.8714G>T (p.Cys2905Phe) c.363+10018C>A | |
6 | g.63721380C>G | CA364384284 | EYS,PHF3 | c.*7672C>G (n.*7672C>G) c.8651G>C (p.Cys2884Ser) c.8714G>C (p.Cys2905Ser) c.363+10018C>G | |
6 | g.63721380C>T | CA364384282 | EYS,PHF3 | c.*7672C>T (n.*7672C>T) c.8651G>A (p.Cys2884Tyr) c.8714G>A (p.Cys2905Tyr) c.363+10018C>T | |
6 | g.63721381A= | CA1633381831 | EYS,PHF3 | c.*7673A= (n.*7673A=) c.8650T= (p.Cys2884=) c.8713T= (p.Cys2905=) c.363+10019A= | |
6 | g.63721381A>C | CA364384286 | EYS,PHF3 | c.*7673A>C (n.*7673A>C) c.8650T>G (p.Cys2884Gly) c.8713T>G (p.Cys2905Gly) c.363+10019A>C | |
6 | g.63721381A>G | CA364384285 | EYS,PHF3 | c.*7673A>G (n.*7673A>G) c.8650T>C (p.Cys2884Arg) c.8713T>C (p.Cys2905Arg) c.363+10019A>G | dbSNP gnomAD v4 |
6 | g.63721381A>T | CA364384287 | EYS,PHF3 | c.*7673A>T (n.*7673A>T) c.8650T>A (p.Cys2884Ser) c.8713T>A (p.Cys2905Ser) c.363+10019A>T | ClinVar |
6 | g.63721381_63721383delinsATG | CA1633381829 | EYS,PHF3 | c.*7673_*7675delinsATG (n.*7673_*7675delinsATG) c.8648_8650delinsCAT (p.Thr2883=) c.8711_8713delinsCAT (p.Thr2904=) c.363+10019_363+10021delinsATG | |
6 | g.63721382T>A | CA450862587 | EYS,PHF3 | c.*7674T>A (n.*7674T>A) c.8649A>T (p.Thr2883=) c.8712A>T (p.Thr2904=) c.363+10020T>A | gnomAD v4 |
6 | g.63721382T>C | CA450862590 | EYS,PHF3 | c.*7674T>C (n.*7674T>C) c.8649A>G (p.Thr2883=) c.8712A>G (p.Thr2904=) c.363+10020T>C | |
6 | g.63721382T>G | CA450862588 | EYS,PHF3 | c.*7674T>G (n.*7674T>G) c.8649A>C (p.Thr2883=) c.8712A>C (p.Thr2904=) c.363+10020T>G | |
6 | g.63721385_63721386del | CA1633381832 | EYS,PHF3 | c.*7677_*7678del (n.*7677_*7678del) c.8648_8649del (p.Thr2883MetfsTer6) c.8711_8712del (p.Thr2904MetfsTer6) c.363+10023_363+10024del | ClinVar dbSNP |
6 | g.63721385_63721389del | CA2540738474 | EYS,PHF3 | c.*7677_*7681del (n.*7677_*7681del) c.8645_8649del (p.Asn2882MetfsTer6) c.8708_8712del (p.Asn2903MetfsTer6) c.363+10023_363+10027del | |
6 | g.63721383G>A | CA364384288 | EYS,PHF3 | c.*7675G>A (n.*7675G>A) c.8648C>T (p.Thr2883Ile) c.8711C>T (p.Thr2904Ile) c.363+10021G>A | |
6 | g.63721383G>C | CA364384289 | EYS,PHF3 | c.*7675G>C (n.*7675G>C) c.8648C>G (p.Thr2883Arg) c.8711C>G (p.Thr2904Arg) c.363+10021G>C | |
6 | g.63721383G>T | CA364384290 | EYS,PHF3 | c.*7675G>T (n.*7675G>T) c.8648C>A (p.Thr2883Lys) c.8711C>A (p.Thr2904Lys) c.363+10021G>T | gnomAD v4 |
6 | g.63721384T>A | CA364384291 | EYS,PHF3 | c.*7676T>A (n.*7676T>A) c.8647A>T (p.Thr2883Ser) c.8710A>T (p.Thr2904Ser) c.363+10022T>A | |
6 | g.63721384T>C | CA364384292 | EYS,PHF3 | c.*7676T>C (n.*7676T>C) c.8647A>G (p.Thr2883Ala) c.8710A>G (p.Thr2904Ala) c.363+10022T>C | |
6 | g.63721384T>G | CA364384293 | EYS,PHF3 | c.*7676T>G (n.*7676T>G) c.8647A>C (p.Thr2883Pro) c.8710A>C (p.Thr2904Pro) c.363+10022T>G | |
6 | g.63721385G>A | CA450862593 | EYS,PHF3 | c.*7677G>A (n.*7677G>A) c.8646C>T (p.Asn2882=) c.8709C>T (p.Asn2903=) c.363+10023G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721385G>C | CA364384294 | EYS,PHF3 | c.*7677G>C (n.*7677G>C) c.8646C>G (p.Asn2882Lys) c.8709C>G (p.Asn2903Lys) c.363+10023G>C | |
6 | g.63721385G= | CA1633381834 | EYS,PHF3 | c.*7677G= (n.*7677G=) c.8646C= (p.Asn2882=) c.8709C= (p.Asn2903=) c.363+10023G= | |
6 | g.63721385G>T | CA364384295 | EYS,PHF3 | c.*7677G>T (n.*7677G>T) c.8646C>A (p.Asn2882Lys) c.8709C>A (p.Asn2903Lys) c.363+10023G>T | |
6 | g.63721386T>A | CA364384296 | EYS,PHF3 | c.*7678T>A (n.*7678T>A) c.8645A>T (p.Asn2882Ile) c.8708A>T (p.Asn2903Ile) c.363+10024T>A | |
6 | g.63721386T>C | CA364384297 | EYS,PHF3 | c.*7678T>C (n.*7678T>C) c.8645A>G (p.Asn2882Ser) c.8708A>G (p.Asn2903Ser) c.363+10024T>C | |
6 | g.63721386T>G | CA364384298 | EYS,PHF3 | c.*7678T>G (n.*7678T>G) c.8645A>C (p.Asn2882Thr) c.8708A>C (p.Asn2903Thr) c.363+10024T>G | |
6 | g.63721386_63721387insAA | CA1089784829 | EYS,PHF3 | c.*7678_*7679insAA (n.*7678_*7679insAA) c.8644_8645insTT (p.Asn2882IlefsTer12) c.8707_8708insTT (p.Asn2903IlefsTer12) c.363+10024_363+10025insAA | |
6 | g.63721386_63721387insCACAC | CA2568703855 | EYS,PHF3 | c.*7678_*7679insCACAC (n.*7678_*7679insCACAC) c.8644_8645insGTGTG (p.Asn2882SerfsTer13) c.8707_8708insGTGTG (p.Asn2903SerfsTer13) c.363+10024_363+10025insCACAC | |
6 | g.63721387T>A | CA364384301 | EYS,PHF3 | c.*7679T>A (n.*7679T>A) c.8644A>T (p.Asn2882Tyr) c.8707A>T (p.Asn2903Tyr) c.363+10025T>A | |
6 | g.63721387T>C | CA364384299 | EYS,PHF3 | c.*7679T>C (n.*7679T>C) c.8644A>G (p.Asn2882Asp) c.8707A>G (p.Asn2903Asp) c.363+10025T>C | |
6 | g.63721387T>G | CA364384300 | EYS,PHF3 | c.*7679T>G (n.*7679T>G) c.8644A>C (p.Asn2882His) c.8707A>C (p.Asn2903His) c.363+10025T>G | |
6 | g.63721388G>A | CA450862599 | EYS,PHF3 | c.*7680G>A (n.*7680G>A) c.8643C>T (p.Tyr2881=) c.8706C>T (p.Tyr2902=) c.363+10026G>A | gnomAD v4 |
6 | g.63721388G>C | CA364384302 | EYS,PHF3 | c.*7680G>C (n.*7680G>C) c.8643C>G (p.Tyr2881Ter) c.8706C>G (p.Tyr2902Ter) c.363+10026G>C | ClinVar |
6 | g.63721388G>T | CA364384303 | EYS,PHF3 | c.*7680G>T (n.*7680G>T) c.8643C>A (p.Tyr2881Ter) c.8706C>A (p.Tyr2902Ter) c.363+10026G>T | |
6 | g.63721388_63721389insA | CA1089784836 | EYS,PHF3 | c.*7680_*7681insA (n.*7680_*7681insA) c.8642_8643insT (p.Asn2882GlnfsTer8) c.8705_8706insT (p.Asn2903GlnfsTer8) c.363+10026_363+10027insA | |
6 | g.63721389T>A | CA364384304 | EYS,PHF3 | c.*7681T>A (n.*7681T>A) c.8642A>T (p.Tyr2881Phe) c.8705A>T (p.Tyr2902Phe) c.363+10027T>A | |
6 | g.63721389T>C | CA140236836 | EYS,PHF3 | c.*7681T>C (n.*7681T>C) c.8642A>G (p.Tyr2881Cys) c.8705A>G (p.Tyr2902Cys) c.363+10027T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721389T>G | CA364384305 | EYS,PHF3 | c.*7681T>G (n.*7681T>G) c.8642A>C (p.Tyr2881Ser) c.8705A>C (p.Tyr2902Ser) c.363+10027T>G | gnomAD v4 |
6 | g.63721389T= | CA1633381836 | EYS,PHF3 | c.*7681T= (n.*7681T=) c.8642A= (p.Tyr2881=) c.8705A= (p.Tyr2902=) c.363+10027T= | |
6 | g.63721390A>C | CA364384306 | EYS,PHF3 | c.*7682A>C (n.*7682A>C) c.8641T>G (p.Tyr2881Asp) c.8704T>G (p.Tyr2902Asp) c.363+10028A>C | |
6 | g.63721390A>G | CA364384307 | EYS,PHF3 | c.*7682A>G (n.*7682A>G) c.8641T>C (p.Tyr2881His) c.8704T>C (p.Tyr2902His) c.363+10028A>G | ClinVar gnomAD v4 |
6 | g.63721390A>T | CA364384308 | EYS,PHF3 | c.*7682A>T (n.*7682A>T) c.8641T>A (p.Tyr2881Asn) c.8704T>A (p.Tyr2902Asn) c.363+10028A>T | |
6 | g.63721391C>A | CA450862602 | EYS,PHF3 | c.*7683C>A (n.*7683C>A) c.8640G>T (p.Gly2880=) c.8703G>T (p.Gly2901=) c.363+10029C>A | |
6 | g.63721391C>G | CA450862604 | EYS,PHF3 | c.*7683C>G (n.*7683C>G) c.8640G>C (p.Gly2880=) c.8703G>C (p.Gly2901=) c.363+10029C>G | |
6 | g.63721391C>T | CA450862606 | EYS,PHF3 | c.*7683C>T (n.*7683C>T) c.8640G>A (p.Gly2880=) c.8703G>A (p.Gly2901=) c.363+10029C>T | ClinVar |
6 | g.63721391_63721392insGGCGA | CA1089784853 | EYS,PHF3 | c.*7683_*7684insGGCGA (n.*7683_*7684insGGCGA) c.8639_8640insTCGCC (p.Tyr2881ArgfsTer14) c.8702_8703insTCGCC (p.Tyr2902ArgfsTer14) c.363+10029_363+10030insGGCGA | |
6 | g.63721392C>A | CA364384309 | EYS,PHF3 | c.*7684C>A (n.*7684C>A) c.8639G>T (p.Gly2880Val) c.8702G>T (p.Gly2901Val) c.363+10030C>A | |
6 | g.63721392C>G | CA364384310 | EYS,PHF3 | c.*7684C>G (n.*7684C>G) c.8639G>C (p.Gly2880Ala) c.8702G>C (p.Gly2901Ala) c.363+10030C>G | |
6 | g.63721392C>T | CA364384311 | EYS,PHF3 | c.*7684C>T (n.*7684C>T) c.8639G>A (p.Gly2880Glu) c.8702G>A (p.Gly2901Glu) c.363+10030C>T | |
6 | g.63721393C>A | CA364384313 | EYS,PHF3 | c.*7685C>A (n.*7685C>A) c.8638G>T (p.Gly2880Trp) c.8701G>T (p.Gly2901Trp) c.363+10031C>A | |
6 | g.63721393C>G | CA364384314 | EYS,PHF3 | c.*7685C>G (n.*7685C>G) c.8638G>C (p.Gly2880Arg) c.8701G>C (p.Gly2901Arg) c.363+10031C>G | |
6 | g.63721393C>T | CA364384312 | EYS,PHF3 | c.*7685C>T (n.*7685C>T) c.8638G>A (p.Gly2880Arg) c.8701G>A (p.Gly2901Arg) c.363+10031C>T | |
6 | g.63721394A>C | CA364384315 | EYS,PHF3 | c.*7686A>C (n.*7686A>C) c.8637T>G (p.Cys2879Trp) c.8700T>G (p.Cys2900Trp) c.363+10032A>C | |
6 | g.63721394A>G | CA450862609 | EYS,PHF3 | c.*7686A>G (n.*7686A>G) c.8637T>C (p.Cys2879=) c.8700T>C (p.Cys2900=) c.363+10032A>G | |
6 | g.63721394A>T | CA364384316 | EYS,PHF3 | c.*7686A>T (n.*7686A>T) c.8637T>A (p.Cys2879Ter) c.8700T>A (p.Cys2900Ter) c.363+10032A>T | |
6 | g.63721395C>A | CA364384317 | EYS,PHF3 | c.*7687C>A (n.*7687C>A) c.8636G>T (p.Cys2879Phe) c.8699G>T (p.Cys2900Phe) c.363+10033C>A | |
6 | g.63721395C= | CA1633381839 | EYS,PHF3 | c.*7687C= (n.*7687C=) c.8636G= (p.Cys2879=) c.8699G= (p.Cys2900=) c.363+10033C= | |
6 | g.63721395C>G | CA364384318 | EYS,PHF3 | c.*7687C>G (n.*7687C>G) c.8636G>C (p.Cys2879Ser) c.8699G>C (p.Cys2900Ser) c.363+10033C>G | |
6 | g.63721395C>T | CA364384319 | EYS,PHF3 | c.*7687C>T (n.*7687C>T) c.8636G>A (p.Cys2879Tyr) c.8699G>A (p.Cys2900Tyr) c.363+10033C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721395_63721396insCG | CA1089784860 | EYS,PHF3 | c.*7687_*7688insCG (n.*7687_*7688insCG) c.8635_8636insCG (p.Cys2879SerfsTer15) c.8698_8699insCG (p.Cys2900SerfsTer15) c.363+10033_363+10034insCG | |
6 | g.63721396A>C | CA364384320 | EYS,PHF3 | c.*7688A>C (n.*7688A>C) c.8635T>G (p.Cys2879Gly) c.8698T>G (p.Cys2900Gly) c.363+10034A>C | |
6 | g.63721396A>G | CA364384321 | EYS,PHF3 | c.*7688A>G (n.*7688A>G) c.8635T>C (p.Cys2879Arg) c.8698T>C (p.Cys2900Arg) c.363+10034A>G | |
6 | g.63721396A>T | CA364384322 | EYS,PHF3 | c.*7688A>T (n.*7688A>T) c.8635T>A (p.Cys2879Ser) c.8698T>A (p.Cys2900Ser) c.363+10034A>T | |
6 | g.63721397G>A | CA140236837 | EYS,PHF3 | c.*7689G>A (n.*7689G>A) c.8634C>T (p.Ala2878=) c.8697C>T (p.Ala2899=) c.363+10035G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721397G>C | CA450862613 | EYS,PHF3 | c.*7689G>C (n.*7689G>C) c.8634C>G (p.Ala2878=) c.8697C>G (p.Ala2899=) c.363+10035G>C | |
6 | g.63721397G= | CA1633381841 | EYS,PHF3 | c.*7689G= (n.*7689G=) c.8634C= (p.Ala2878=) c.8697C= (p.Ala2899=) c.363+10035G= | |
6 | g.63721397G>T | CA450862616 | EYS,PHF3 | c.*7689G>T (n.*7689G>T) c.8634C>A (p.Ala2878=) c.8697C>A (p.Ala2899=) c.363+10035G>T | |
6 | g.63721398G>A | CA364384323 | EYS,PHF3 | c.*7690G>A (n.*7690G>A) c.8633C>T (p.Ala2878Val) c.8696C>T (p.Ala2899Val) c.363+10036G>A | dbSNP |
6 | g.63721398G>C | CA364384324 | EYS,PHF3 | c.*7690G>C (n.*7690G>C) c.8633C>G (p.Ala2878Gly) c.8696C>G (p.Ala2899Gly) c.363+10036G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63721398G= | CA1633381844 | EYS,PHF3 | c.*7690G= (n.*7690G=) c.8633C= (p.Ala2878=) c.8696C= (p.Ala2899=) c.363+10036G= | |
6 | g.63721398G>T | CA364384325 | EYS,PHF3 | c.*7690G>T (n.*7690G>T) c.8633C>A (p.Ala2878Asp) c.8696C>A (p.Ala2899Asp) c.363+10036G>T | |
6 | g.63721398_63721402del | CA2739273153 | EYS,PHF3 | c.*7690_*7694del (n.*7690_*7694del) c.8629_8633del (p.Thr2877LeufsTer11) c.8692_8696del (p.Thr2898LeufsTer11) c.363+10036_363+10040del | ClinVar |
6 | g.63721398_63721405del | CA1089784867 | EYS,PHF3 | c.*7690_*7697del (n.*7690_*7697del) c.8626_8633del (p.Gly2876LeufsTer11) c.8689_8696del (p.Gly2897LeufsTer11) c.363+10036_363+10043del | |
6 | g.63721399C>A | CA364384327 | EYS,PHF3 | c.*7691C>A (n.*7691C>A) c.8632G>T (p.Ala2878Ser) c.8695G>T (p.Ala2899Ser) c.363+10037C>A | |
6 | g.63721399C>G | CA364384328 | EYS,PHF3 | c.*7691C>G (n.*7691C>G) c.8632G>C (p.Ala2878Pro) c.8695G>C (p.Ala2899Pro) c.363+10037C>G | |
6 | g.63721399C>T | CA364384326 | EYS,PHF3 | c.*7691C>T (n.*7691C>T) c.8632G>A (p.Ala2878Thr) c.8695G>A (p.Ala2899Thr) c.363+10037C>T | |
6 | g.63721400_63721403dup | CA2679279893 | EYS,PHF3 | c.*7692_*7695dup (n.*7692_*7695dup) c.8629_8632dup (p.Ala2878AspfsTer13) c.8692_8695dup (p.Ala2899AspfsTer13) c.363+10038_363+10041dup | gnomAD v4 |
6 | g.63721400T>A | CA450862619 | EYS,PHF3 | c.*7692T>A (n.*7692T>A) c.8631A>T (p.Thr2877=) c.8694A>T (p.Thr2898=) c.363+10038T>A | |
6 | g.63721400T>C | CA450862621 | EYS,PHF3 | c.*7692T>C (n.*7692T>C) c.8631A>G (p.Thr2877=) c.8694A>G (p.Thr2898=) c.363+10038T>C | gnomAD v4 |
6 | g.63721400T>G | CA450862623 | EYS,PHF3 | c.*7692T>G (n.*7692T>G) c.8631A>C (p.Thr2877=) c.8694A>C (p.Thr2898=) c.363+10038T>G | |
6 | g.63721401G>A | CA364384329 | EYS,PHF3 | c.*7693G>A (n.*7693G>A) c.8630C>T (p.Thr2877Ile) c.8693C>T (p.Thr2898Ile) c.363+10039G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63721401G>C | CA364384330 | EYS,PHF3 | c.*7693G>C (n.*7693G>C) c.8630C>G (p.Thr2877Arg) c.8693C>G (p.Thr2898Arg) c.363+10039G>C | |
6 | g.63721401G= | CA1633381846 | EYS,PHF3 | c.*7693G= (n.*7693G=) c.8630C= (p.Thr2877=) c.8693C= (p.Thr2898=) c.363+10039G= | |
6 | g.63721401G>T | CA364384331 | EYS,PHF3 | c.*7693G>T (n.*7693G>T) c.8630C>A (p.Thr2877Lys) c.8693C>A (p.Thr2898Lys) c.363+10039G>T | |
6 | g.63721402T>A | CA364384332 | EYS,PHF3 | c.*7694T>A (n.*7694T>A) c.8629A>T (p.Thr2877Ser) c.8692A>T (p.Thr2898Ser) c.363+10040T>A | |
6 | g.63721402T>C | CA364384333 | EYS,PHF3 | c.*7694T>C (n.*7694T>C) c.8629A>G (p.Thr2877Ala) c.8692A>G (p.Thr2898Ala) c.363+10040T>C | |
6 | g.63721402T>G | CA364384334 | EYS,PHF3 | c.*7694T>G (n.*7694T>G) c.8629A>C (p.Thr2877Pro) c.8692A>C (p.Thr2898Pro) c.363+10040T>G | |
6 | g.63721403C>A | CA450862628 | EYS,PHF3 | c.*7695C>A (n.*7695C>A) c.8628G>T (p.Gly2876=) c.8691G>T (p.Gly2897=) c.363+10041C>A | |
6 | g.63721403C>G | CA450862631 | EYS,PHF3 | c.*7695C>G (n.*7695C>G) c.8628G>C (p.Gly2876=) c.8691G>C (p.Gly2897=) c.363+10041C>G | |
6 | g.63721403C>T | CA450862630 | EYS,PHF3 | c.*7695C>T (n.*7695C>T) c.8628G>A (p.Gly2876=) c.8691G>A (p.Gly2897=) c.363+10041C>T | gnomAD v4 |
6 | g.63721405dup | CA2573141296 | EYS,PHF3 | c.*7697dup (n.*7697dup) c.8628dup (p.Thr2877AspfsTer13) c.8691dup (p.Thr2898AspfsTer13) c.363+10043dup | ClinVar dbSNP |
6 | g.63721404C>A | CA140236838 | EYS,PHF3 | c.*7696C>A (n.*7696C>A) c.8627G>T (p.Gly2876Val) c.8690G>T (p.Gly2897Val) c.363+10042C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63721404C= | CA1633381849 | EYS,PHF3 | c.*7696C= (n.*7696C=) c.8627G= (p.Gly2876=) c.8690G= (p.Gly2897=) c.363+10042C= | |
6 | g.63721404C>G | CA364384336 | EYS,PHF3 | c.*7696C>G (n.*7696C>G) c.8627G>C (p.Gly2876Ala) c.8690G>C (p.Gly2897Ala) c.363+10042C>G | gnomAD v4 |
6 | g.63721404C>T | CA364384335 | EYS,PHF3 | c.*7696C>T (n.*7696C>T) c.8627G>A (p.Gly2876Glu) c.8690G>A (p.Gly2897Glu) c.363+10042C>T | |
6 | g.63721405C>A | CA364384337 | EYS,PHF3 | c.*7697C>A (n.*7697C>A) c.8626G>T (p.Gly2876Trp) c.8689G>T (p.Gly2897Trp) c.363+10043C>A | |
6 | g.63721405C= | CA1633381851 | EYS,PHF3 | c.*7697C= (n.*7697C=) c.8626G= (p.Gly2876=) c.8689G= (p.Gly2897=) c.363+10043C= | |
6 | g.63721405C>G | CA364384338 | EYS,PHF3 | c.*7697C>G (n.*7697C>G) c.8626G>C (p.Gly2876Arg) c.8689G>C (p.Gly2897Arg) c.363+10043C>G | gnomAD v4 |
6 | g.63721405C>T | CA364384339 | EYS,PHF3 | c.*7697C>T (n.*7697C>T) c.8626G>A (p.Gly2876Arg) c.8689G>A (p.Gly2897Arg) c.363+10043C>T | ClinVar dbSNP gnomAD v4 |
6 | g.63721406A>C | CA364384340 | EYS,PHF3 | c.*7698A>C (n.*7698A>C) c.8625T>G (p.Asp2875Glu) c.8688T>G (p.Asp2896Glu) c.363+10044A>C | |
6 | g.63721406A>G | CA450862635 | EYS,PHF3 | c.*7698A>G (n.*7698A>G) c.8625T>C (p.Asp2875=) c.8688T>C (p.Asp2896=) c.363+10044A>G | ClinVar dbSNP |
6 | g.63721406A>T | CA364384341 | EYS,PHF3 | c.*7698A>T (n.*7698A>T) c.8625T>A (p.Asp2875Glu) c.8688T>A (p.Asp2896Glu) c.363+10044A>T | |
6 | g.63721407T>A | CA364384344 | EYS,PHF3 | c.*7699T>A (n.*7699T>A) c.8624A>T (p.Asp2875Val) c.8687A>T (p.Asp2896Val) c.363+10045T>A | |
6 | g.63721407T>C | CA364384343 | EYS,PHF3 | c.*7699T>C (n.*7699T>C) c.8624A>G (p.Asp2875Gly) c.8687A>G (p.Asp2896Gly) c.363+10045T>C | |
6 | g.63721407T>G | CA364384342 | EYS,PHF3 | c.*7699T>G (n.*7699T>G) c.8624A>C (p.Asp2875Ala) c.8687A>C (p.Asp2896Ala) c.363+10045T>G | |
6 | g.63721408C>A | CA364384346 | EYS,PHF3 | c.*7700C>A (n.*7700C>A) c.8623G>T (p.Asp2875Tyr) c.8686G>T (p.Asp2896Tyr) c.363+10046C>A | |
6 | g.63721408C>G | CA364384345 | EYS,PHF3 | c.*7700C>G (n.*7700C>G) c.8623G>C (p.Asp2875His) c.8686G>C (p.Asp2896His) c.363+10046C>G | ClinVar |
6 | g.63721408C>T | CA364384347 | EYS,PHF3 | c.*7700C>T (n.*7700C>T) c.8623G>A (p.Asp2875Asn) c.8686G>A (p.Asp2896Asn) c.363+10046C>T | |
6 | g.63721408_63721409insTAC | CA1089784890 | EYS,PHF3 | c.*7700_*7701insTAC (n.*7700_*7701insTAC) c.8623_8624insTAG (p.Cys2874_Asp2875insVal) c.8686_8687insTAG (p.Cys2895_Asp2896insVal) c.363+10046_363+10047insTAC | |
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 |