| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.63721314_63721321del | CA2695206717 | EYS,PHF3 | c.*7606_*7613del (n.*7606_*7613del) c.8710_8717del (p.Asp2904TrpfsTer5) c.8773_8780del (p.Asp2925TrpfsTer5) c.363+9952_363+9959del | |
| 6 | g.63721315C>A | CA364384135 | EYS,PHF3 | c.*7607C>A (n.*7607C>A) c.8716G>T (p.Ala2906Ser) c.8779G>T (p.Ala2927Ser) c.363+9953C>A | |
| 6 | g.63721315C= | CA1633381752 | EYS,PHF3 | c.*7607C= (n.*7607C=) c.8716G= (p.Ala2906=) c.8779G= (p.Ala2927=) c.363+9953C= | |
| 6 | g.63721315C>G | CA364384136 | EYS,PHF3 | c.*7607C>G (n.*7607C>G) c.8716G>C (p.Ala2906Pro) c.8779G>C (p.Ala2927Pro) c.363+9953C>G | |
| 6 | g.63721315C>T | CA364384137 | EYS,PHF3 | c.*7607C>T (n.*7607C>T) c.8716G>A (p.Ala2906Thr) c.8779G>A (p.Ala2927Thr) c.363+9953C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721316C>A | CA364384138 | EYS,PHF3 | c.*7608C>A (n.*7608C>A) c.8715G>T (p.Trp2905Cys) c.8778G>T (p.Trp2926Cys) c.363+9954C>A | |
| 6 | g.63721316C>G | CA364384139 | EYS,PHF3 | c.*7608C>G (n.*7608C>G) c.8715G>C (p.Trp2905Cys) c.8778G>C (p.Trp2926Cys) c.363+9954C>G | |
| 6 | g.63721316C>T | CA364384140 | EYS,PHF3 | c.*7608C>T (n.*7608C>T) c.8715G>A (p.Trp2905Ter) c.8778G>A (p.Trp2926Ter) c.363+9954C>T | ClinVar |
| 6 | g.63721317C>A | CA364384143 | EYS,PHF3 | c.*7609C>A (n.*7609C>A) c.8714G>T (p.Trp2905Leu) c.8777G>T (p.Trp2926Leu) c.363+9955C>A | |
| 6 | g.63721317C>G | CA364384141 | EYS,PHF3 | c.*7609C>G (n.*7609C>G) c.8714G>C (p.Trp2905Ser) c.8777G>C (p.Trp2926Ser) c.363+9955C>G | |
| 6 | g.63721317C>T | CA364384142 | EYS,PHF3 | c.*7609C>T (n.*7609C>T) c.8714G>A (p.Trp2905Ter) c.8777G>A (p.Trp2926Ter) c.363+9955C>T | |
| 6 | g.63721318A= | CA1633381756 | EYS,PHF3 | c.*7610A= (n.*7610A=) c.8713T= (p.Trp2905=) c.8776T= (p.Trp2926=) c.363+9956A= | |
| 6 | g.63721318A>C | CA364384144 | EYS,PHF3 | c.*7610A>C (n.*7610A>C) c.8713T>G (p.Trp2905Gly) c.8776T>G (p.Trp2926Gly) c.363+9956A>C | dbSNP |
| 6 | g.63721318A>G | CA364384145 | EYS,PHF3 | c.*7610A>G (n.*7610A>G) c.8713T>C (p.Trp2905Arg) c.8776T>C (p.Trp2926Arg) c.363+9956A>G | |
| 6 | g.63721318A>T | CA364384146 | EYS,PHF3 | c.*7610A>T (n.*7610A>T) c.8713T>A (p.Trp2905Arg) c.8776T>A (p.Trp2926Arg) c.363+9956A>T | |
| 6 | g.63721319A>C | CA364384147 | EYS,PHF3 | c.*7611A>C (n.*7611A>C) c.8712T>G (p.Asp2904Glu) c.8775T>G (p.Asp2925Glu) c.363+9957A>C | |
| 6 | g.63721319A>G | CA450862461 | EYS,PHF3 | c.*7611A>G (n.*7611A>G) c.8712T>C (p.Asp2904=) c.8775T>C (p.Asp2925=) c.363+9957A>G | |
| 6 | g.63721319A>T | CA364384148 | EYS,PHF3 | c.*7611A>T (n.*7611A>T) c.8712T>A (p.Asp2904Glu) c.8775T>A (p.Asp2925Glu) c.363+9957A>T | |
| 6 | g.63721320T>A | CA364384149 | EYS,PHF3 | c.*7612T>A (n.*7612T>A) c.8711A>T (p.Asp2904Val) c.8774A>T (p.Asp2925Val) c.363+9958T>A | |
| 6 | g.63721320T>C | CA364384151 | EYS,PHF3 | c.*7612T>C (n.*7612T>C) c.8711A>G (p.Asp2904Gly) c.8774A>G (p.Asp2925Gly) c.363+9958T>C | |
| 6 | g.63721320T>G | CA364384150 | EYS,PHF3 | c.*7612T>G (n.*7612T>G) c.8711A>C (p.Asp2904Ala) c.8774A>C (p.Asp2925Ala) c.363+9958T>G | |
| 6 | g.63721321C>A | CA364384152 | EYS,PHF3 | c.*7613C>A (n.*7613C>A) c.8710G>T (p.Asp2904Tyr) c.8773G>T (p.Asp2925Tyr) c.363+9959C>A | |
| 6 | g.63721321C>G | CA364384153 | EYS,PHF3 | c.*7613C>G (n.*7613C>G) c.8710G>C (p.Asp2904His) c.8773G>C (p.Asp2925His) c.363+9959C>G | |
| 6 | g.63721321C>T | CA364384154 | EYS,PHF3 | c.*7613C>T (n.*7613C>T) c.8710G>A (p.Asp2904Asn) c.8773G>A (p.Asp2925Asn) c.363+9959C>T | |
| 6 | g.63721322T>A | CA450862465 | EYS,PHF3 | c.*7614T>A (n.*7614T>A) c.8709A>T (p.Pro2903=) c.8772A>T (p.Pro2924=) c.363+9960T>A | |
| 6 | g.63721322T>C | CA450862466 | EYS,PHF3 | c.*7614T>C (n.*7614T>C) c.8709A>G (p.Pro2903=) c.8772A>G (p.Pro2924=) c.363+9960T>C | gnomAD v4 |
| 6 | g.63721322T>G | CA450862467 | EYS,PHF3 | c.*7614T>G (n.*7614T>G) c.8709A>C (p.Pro2903=) c.8772A>C (p.Pro2924=) c.363+9960T>G | |
| 6 | g.63721323G>A | CA364384155 | EYS,PHF3 | c.*7615G>A (n.*7615G>A) c.8708C>T (p.Pro2903Leu) c.8771C>T (p.Pro2924Leu) c.363+9961G>A | |
| 6 | g.63721323G>C | CA364384156 | EYS,PHF3 | c.*7615G>C (n.*7615G>C) c.8708C>G (p.Pro2903Arg) c.8771C>G (p.Pro2924Arg) c.363+9961G>C | |
| 6 | g.63721323G>T | CA364384157 | EYS,PHF3 | c.*7615G>T (n.*7615G>T) c.8708C>A (p.Pro2903Gln) c.8771C>A (p.Pro2924Gln) c.363+9961G>T | |
| 6 | g.63721324G>A | CA364384158 | EYS,PHF3 | c.*7616G>A (n.*7616G>A) c.8707C>T (p.Pro2903Ser) c.8770C>T (p.Pro2924Ser) c.363+9962G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.63721324G>C | CA364384159 | EYS,PHF3 | c.*7616G>C (n.*7616G>C) c.8707C>G (p.Pro2903Ala) c.8770C>G (p.Pro2924Ala) c.363+9962G>C | |
| 6 | g.63721324G>T | CA364384160 | EYS,PHF3 | c.*7616G>T (n.*7616G>T) c.8707C>A (p.Pro2903Thr) c.8770C>A (p.Pro2924Thr) c.363+9962G>T | |
| 6 | g.63721325C>A | CA364384161 | EYS,PHF3 | c.*7617C>A (n.*7617C>A) c.8706G>T (p.Leu2902Phe) c.8769G>T (p.Leu2923Phe) c.363+9963C>A | |
| 6 | g.63721325C>G | CA364384162 | EYS,PHF3 | c.*7617C>G (n.*7617C>G) c.8706G>C (p.Leu2902Phe) c.8769G>C (p.Leu2923Phe) c.363+9963C>G | |
| 6 | g.63721325C>T | CA450862473 | EYS,PHF3 | c.*7617C>T (n.*7617C>T) c.8706G>A (p.Leu2902=) c.8769G>A (p.Leu2923=) c.363+9963C>T | |
| 6 | g.63721326A= | CA1633381759 | EYS,PHF3 | c.*7618A= (n.*7618A=) c.8705T= (p.Leu2902=) c.8768T= (p.Leu2923=) c.363+9964A= | |
| 6 | g.63721326A>C | CA140236830 | EYS,PHF3 | c.*7618A>C (n.*7618A>C) c.8705T>G (p.Leu2902Trp) c.8768T>G (p.Leu2923Trp) c.363+9964A>C | dbSNP |
| 6 | g.63721326A>G | CA364384164 | EYS,PHF3 | c.*7618A>G (n.*7618A>G) c.8705T>C (p.Leu2902Ser) c.8768T>C (p.Leu2923Ser) c.363+9964A>G | gnomAD v4 |
| 6 | g.63721326A>T | CA364384163 | EYS,PHF3 | c.*7618A>T (n.*7618A>T) c.8705T>A (p.Leu2902Ter) c.8768T>A (p.Leu2923Ter) c.363+9964A>T | |
| 6 | g.63721327A>C | CA364384166 | EYS,PHF3 | c.*7619A>C (n.*7619A>C) c.8704T>G (p.Leu2902Val) c.8767T>G (p.Leu2923Val) c.363+9965A>C | |
| 6 | g.63721327A>G | CA450862476 | EYS,PHF3 | c.*7619A>G (n.*7619A>G) c.8704T>C (p.Leu2902=) c.8767T>C (p.Leu2923=) c.363+9965A>G | ClinVar gnomAD v4 |
| 6 | g.63721327A>T | CA364384165 | EYS,PHF3 | c.*7619A>T (n.*7619A>T) c.8704T>A (p.Leu2902Met) c.8767T>A (p.Leu2923Met) c.363+9965A>T | |
| 6 | g.63721328A>C | CA364384167 | EYS,PHF3 | c.*7620A>C (n.*7620A>C) c.8703T>G (p.Cys2901Trp) c.8766T>G (p.Cys2922Trp) c.363+9966A>C | |
| 6 | g.63721328A>G | CA450862480 | EYS,PHF3 | c.*7620A>G (n.*7620A>G) c.8703T>C (p.Cys2901=) c.8766T>C (p.Cys2922=) c.363+9966A>G | |
| 6 | g.63721328A>T | CA364384168 | EYS,PHF3 | c.*7620A>T (n.*7620A>T) c.8703T>A (p.Cys2901Ter) c.8766T>A (p.Cys2922Ter) c.363+9966A>T | |
| 6 | g.63721329C>A | CA364384169 | EYS,PHF3 | c.*7621C>A (n.*7621C>A) c.8702G>T (p.Cys2901Phe) c.8765G>T (p.Cys2922Phe) c.363+9967C>A | |
| 6 | g.63721329C>G | CA364384170 | EYS,PHF3 | c.*7621C>G (n.*7621C>G) c.8702G>C (p.Cys2901Ser) c.8765G>C (p.Cys2922Ser) c.363+9967C>G | |
| 6 | g.63721329C>T | CA364384171 | EYS,PHF3 | c.*7621C>T (n.*7621C>T) c.8702G>A (p.Cys2901Tyr) c.8765G>A (p.Cys2922Tyr) c.363+9967C>T | gnomAD v4 |
| 6 | g.63721330A>C | CA364384172 | EYS,PHF3 | c.*7622A>C (n.*7622A>C) c.8701T>G (p.Cys2901Gly) c.8764T>G (p.Cys2922Gly) c.363+9968A>C | |
| 6 | g.63721330A>G | CA364384173 | EYS,PHF3 | c.*7622A>G (n.*7622A>G) c.8701T>C (p.Cys2901Arg) c.8764T>C (p.Cys2922Arg) c.363+9968A>G | |
| 6 | g.63721330A>T | CA364384174 | EYS,PHF3 | c.*7622A>T (n.*7622A>T) c.8701T>A (p.Cys2901Ser) c.8764T>A (p.Cys2922Ser) c.363+9968A>T | |
| 6 | g.63721331T>A | CA364384175 | EYS,PHF3 | c.*7623T>A (n.*7623T>A) c.8700A>T (p.Arg2900Ser) c.8763A>T (p.Arg2921Ser) c.363+9969T>A | |
| 6 | g.63721331T>C | CA450862485 | EYS,PHF3 | c.*7623T>C (n.*7623T>C) c.8700A>G (p.Arg2900=) c.8763A>G (p.Arg2921=) c.363+9969T>C | gnomAD v4 |
| 6 | g.63721331T>G | CA364384176 | EYS,PHF3 | c.*7623T>G (n.*7623T>G) c.8700A>C (p.Arg2900Ser) c.8763A>C (p.Arg2921Ser) c.363+9969T>G | |
| 6 | g.63721332C>A | CA364384179 | EYS,PHF3 | c.*7624C>A (n.*7624C>A) c.8699G>T (p.Arg2900Ile) c.8762G>T (p.Arg2921Ile) c.363+9970C>A | |
| 6 | g.63721332C>G | CA364384178 | EYS,PHF3 | c.*7624C>G (n.*7624C>G) c.8699G>C (p.Arg2900Thr) c.8762G>C (p.Arg2921Thr) c.363+9970C>G | |
| 6 | g.63721332C>T | CA364384177 | EYS,PHF3 | c.*7624C>T (n.*7624C>T) c.8699G>A (p.Arg2900Lys) c.8762G>A (p.Arg2921Lys) c.363+9970C>T | gnomAD v4 |
| 6 | g.63721333T>A | CA364384180 | EYS,PHF3 | c.*7625T>A (n.*7625T>A) c.8698A>T (p.Arg2900Ter) c.8761A>T (p.Arg2921Ter) c.363+9971T>A | |
| 6 | g.63721333T>C | CA364384181 | EYS,PHF3 | c.*7625T>C (n.*7625T>C) c.8698A>G (p.Arg2900Gly) c.8761A>G (p.Arg2921Gly) c.363+9971T>C | gnomAD v4 |
| 6 | g.63721333T>G | CA450862486 | EYS,PHF3 | c.*7625T>G (n.*7625T>G) c.8698A>C (p.Arg2900=) c.8761A>C (p.Arg2921=) c.363+9971T>G | |
| 6 | g.63721334G>A | CA450862488 | EYS,PHF3 | c.*7626G>A (n.*7626G>A) c.8697C>T (p.Cys2899=) c.8760C>T (p.Cys2920=) c.363+9972G>A | |
| 6 | g.63721334G>C | CA364384182 | EYS,PHF3 | c.*7626G>C (n.*7626G>C) c.8697C>G (p.Cys2899Trp) c.8760C>G (p.Cys2920Trp) c.363+9972G>C | gnomAD v4 |
| 6 | g.63721334G>T | CA364384183 | EYS,PHF3 | c.*7626G>T (n.*7626G>T) c.8697C>A (p.Cys2899Ter) c.8760C>A (p.Cys2920Ter) c.363+9972G>T | ClinVar |
| 6 | g.63721335C>A | CA364384184 | EYS,PHF3 | c.*7627C>A (n.*7627C>A) c.8696G>T (p.Cys2899Phe) c.8759G>T (p.Cys2920Phe) c.363+9973C>A | |
| 6 | g.63721335C>G | CA364384185 | EYS,PHF3 | c.*7627C>G (n.*7627C>G) c.8696G>C (p.Cys2899Ser) c.8759G>C (p.Cys2920Ser) c.363+9973C>G | gnomAD v4 |
| 6 | g.63721335C>T | CA364384186 | EYS,PHF3 | c.*7627C>T (n.*7627C>T) c.8696G>A (p.Cys2899Tyr) c.8759G>A (p.Cys2920Tyr) c.363+9973C>T | |
| 6 | g.63721335_63721336insTCT | CA2679279889 | EYS,PHF3 | c.*7627_*7628insTCT (n.*7627_*7628insTCT) c.8695_8696insAGA (p.Cys2899Ter) c.8758_8759insAGA (p.Cys2920Ter) c.363+9973_363+9974insTCT | gnomAD v4 |
| 6 | g.63721336A= | CA1633381762 | EYS,PHF3 | c.*7628A= (n.*7628A=) c.8695T= (p.Cys2899=) c.8758T= (p.Cys2920=) c.363+9974A= | |
| 6 | g.63721336A>C | CA364384187 | EYS,PHF3 | c.*7628A>C (n.*7628A>C) c.8695T>G (p.Cys2899Gly) c.8758T>G (p.Cys2920Gly) c.363+9974A>C | |
| 6 | g.63721336A>G | CA364384188 | EYS,PHF3 | c.*7628A>G (n.*7628A>G) c.8695T>C (p.Cys2899Arg) c.8758T>C (p.Cys2920Arg) c.363+9974A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63721336A>T | CA364384189 | EYS,PHF3 | c.*7628A>T (n.*7628A>T) c.8695T>A (p.Cys2899Ser) c.8758T>A (p.Cys2920Ser) c.363+9974A>T | gnomAD v4 |
| 6 | g.63721337del | CA2695206718 | EYS,PHF3 | c.*7629del (n.*7629del) c.8695del (p.Cys2899AlafsTer19) c.8758del (p.Cys2920AlafsTer19) c.363+9975del | ClinVar |
| 6 | g.63721337A= | CA1633381764 | EYS,PHF3 | c.*7629A= (n.*7629A=) c.8694T= (p.Ser2898=) c.8757T= (p.Ser2919=) c.363+9975A= | |
| 6 | g.63721337A>C | CA450862493 | EYS,PHF3 | c.*7629A>C (n.*7629A>C) c.8694T>G (p.Ser2898=) c.8757T>G (p.Ser2919=) c.363+9975A>C | dbSNP gnomAD v4 |
| 6 | g.63721337A>G | CA450862495 | EYS,PHF3 | c.*7629A>G (n.*7629A>G) c.8694T>C (p.Ser2898=) c.8757T>C (p.Ser2919=) c.363+9975A>G | |
| 6 | g.63721337A>T | CA450862498 | EYS,PHF3 | c.*7629A>T (n.*7629A>T) c.8694T>A (p.Ser2898=) c.8757T>A (p.Ser2919=) c.363+9975A>T | |
| 6 | g.63721338G>A | CA364384190 | EYS,PHF3 | c.*7630G>A (n.*7630G>A) c.8693C>T (p.Ser2898Phe) c.8756C>T (p.Ser2919Phe) c.363+9976G>A | |
| 6 | g.63721338G>C | CA364384191 | EYS,PHF3 | c.*7630G>C (n.*7630G>C) c.8693C>G (p.Ser2898Cys) c.8756C>G (p.Ser2919Cys) c.363+9976G>C | |
| 6 | g.63721338G>T | CA364384192 | EYS,PHF3 | c.*7630G>T (n.*7630G>T) c.8693C>A (p.Ser2898Tyr) c.8756C>A (p.Ser2919Tyr) c.363+9976G>T | |
| 6 | g.63721339A>C | CA364384195 | EYS,PHF3 | c.*7631A>C (n.*7631A>C) c.8692T>G (p.Ser2898Ala) c.8755T>G (p.Ser2919Ala) c.363+9977A>C | |
| 6 | g.63721339A>G | CA364384194 | EYS,PHF3 | c.*7631A>G (n.*7631A>G) c.8692T>C (p.Ser2898Pro) c.8755T>C (p.Ser2919Pro) c.363+9977A>G | |
| 6 | g.63721339A>T | CA364384193 | EYS,PHF3 | c.*7631A>T (n.*7631A>T) c.8692T>A (p.Ser2898Thr) c.8755T>A (p.Ser2919Thr) c.363+9977A>T | |
| 6 | g.63721343del | CA2557904147 | EYS,PHF3 | c.*7635del (n.*7635del) c.8692del (p.Ser2898LeufsTer20) c.8755del (p.Ser2919LeufsTer20) c.363+9981del | ClinVar dbSNP |
| 6 | g.63721342_63721343del | CA2697553507 | EYS,PHF3 | c.*7634_*7635del (n.*7634_*7635del) c.8691_8692del (p.Ser2898LeufsTer13) c.8754_8755del (p.Ser2919LeufsTer13) c.363+9980_363+9981del | ClinVar |
| 6 | g.63721340A= | CA1633381767 | EYS,PHF3 | c.*7632A= (n.*7632A=) c.8691T= (p.Phe2897=) c.8754T= (p.Phe2918=) c.363+9978A= | |
| 6 | g.63721340A>C | CA364384197 | EYS,PHF3 | c.*7632A>C (n.*7632A>C) c.8691T>G (p.Phe2897Leu) c.8754T>G (p.Phe2918Leu) c.363+9978A>C | |
| 6 | g.63721340A>G | CA450862502 | EYS,PHF3 | c.*7632A>G (n.*7632A>G) c.8691T>C (p.Phe2897=) c.8754T>C (p.Phe2918=) c.363+9978A>G | dbSNP gnomAD v2 |
| 6 | g.63721340A>T | CA364384196 | EYS,PHF3 | c.*7632A>T (n.*7632A>T) c.8691T>A (p.Phe2897Leu) c.8754T>A (p.Phe2918Leu) c.363+9978A>T | |
| 6 | g.63721341A>C | CA364384198 | EYS,PHF3 | c.*7633A>C (n.*7633A>C) c.8690T>G (p.Phe2897Cys) c.8753T>G (p.Phe2918Cys) c.363+9979A>C | |
| 6 | g.63721341A>G | CA364384199 | EYS,PHF3 | c.*7633A>G (n.*7633A>G) c.8690T>C (p.Phe2897Ser) c.8753T>C (p.Phe2918Ser) c.363+9979A>G | |
| 6 | g.63721341A>T | CA364384200 | EYS,PHF3 | c.*7633A>T (n.*7633A>T) c.8690T>A (p.Phe2897Tyr) c.8753T>A (p.Phe2918Tyr) c.363+9979A>T | |
| 6 | g.63721342A= | CA1633381770 | EYS,PHF3 | c.*7634A= (n.*7634A=) c.8689T= (p.Phe2897=) c.8752T= (p.Phe2918=) c.363+9980A= | |
| 6 | g.63721342A>C | CA364384201 | EYS,PHF3 | c.*7634A>C (n.*7634A>C) c.8689T>G (p.Phe2897Val) c.8752T>G (p.Phe2918Val) c.363+9980A>C | |
| 6 | g.63721342A>G | CA364384202 | EYS,PHF3 | c.*7634A>G (n.*7634A>G) c.8689T>C (p.Phe2897Leu) c.8752T>C (p.Phe2918Leu) c.363+9980A>G | ClinVar dbSNP |
| 6 | g.63721342A>T | CA364384203 | EYS,PHF3 | c.*7634A>T (n.*7634A>T) c.8689T>A (p.Phe2897Ile) c.8752T>A (p.Phe2918Ile) c.363+9980A>T | |
| 6 | g.63721343A>C | CA450862506 | EYS,PHF3 | c.*7635A>C (n.*7635A>C) c.8688T>G (p.Thr2896=) c.8751T>G (p.Thr2917=) c.363+9981A>C | gnomAD v4 |
| 6 | g.63721343A>G | CA450862507 | EYS,PHF3 | c.*7635A>G (n.*7635A>G) c.8688T>C (p.Thr2896=) c.8751T>C (p.Thr2917=) c.363+9981A>G | |
| 6 | g.63721343A>T | CA450862508 | EYS,PHF3 | c.*7635A>T (n.*7635A>T) c.8688T>A (p.Thr2896=) c.8751T>A (p.Thr2917=) c.363+9981A>T | |
| 6 | g.63721343_63721346delinsAGTT | CA1633381772 | EYS,PHF3 | c.*7635_*7638delinsAGTT (n.*7635_*7638delinsAGTT) c.8685_8688delinsAACT (p.Thr2895=) c.8748_8751delinsAACT (p.Thr2916=) c.363+9981_363+9984delinsAGTT | |
| 6 | g.63721344del | CA2679279890 | EYS,PHF3 | c.*7636del (n.*7636del) c.8687del (p.Thr2896IlefsTer22) c.8750del (p.Thr2917IlefsTer22) c.363+9982del | ClinVar gnomAD v4 |
| 6 | g.63721344G>A | CA364384204 | EYS,PHF3 | c.*7636G>A (n.*7636G>A) c.8687C>T (p.Thr2896Ile) c.8750C>T (p.Thr2917Ile) c.363+9982G>A | |
| 6 | g.63721344G>C | CA364384206 | EYS,PHF3 | c.*7636G>C (n.*7636G>C) c.8687C>G (p.Thr2896Ser) c.8750C>G (p.Thr2917Ser) c.363+9982G>C | |
| 6 | g.63721344G= | CA1633381776 | EYS,PHF3 | c.*7636G= (n.*7636G=) c.8687C= (p.Thr2896=) c.8750C= (p.Thr2917=) c.363+9982G= | |
| 6 | g.63721344G>T | CA364384205 | EYS,PHF3 | c.*7636G>T (n.*7636G>T) c.8687C>A (p.Thr2896Asn) c.8750C>A (p.Thr2917Asn) c.363+9982G>T | dbSNP |
| 6 | g.63721346_63721348del | CA568118951 | EYS,PHF3 | c.*7638_*7640del (n.*7638_*7640del) c.8685_8687del (p.Thr2896del) c.8748_8750del (p.Thr2917del) c.363+9984_363+9986del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721345T>A | CA364384207 | EYS,PHF3 | c.*7637T>A (n.*7637T>A) c.8686A>T (p.Thr2896Ser) c.8749A>T (p.Thr2917Ser) c.363+9983T>A | |
| 6 | g.63721345T>C | CA364384208 | EYS,PHF3 | c.*7637T>C (n.*7637T>C) c.8686A>G (p.Thr2896Ala) c.8749A>G (p.Thr2917Ala) c.363+9983T>C | |
| 6 | g.63721345T>G | CA364384209 | EYS,PHF3 | c.*7637T>G (n.*7637T>G) c.8686A>C (p.Thr2896Pro) c.8749A>C (p.Thr2917Pro) c.363+9983T>G | |
| 6 | g.63721345T= | CA1633381778 | EYS,PHF3 | c.*7637T= (n.*7637T=) c.8686A= (p.Thr2896=) c.8749A= (p.Thr2917=) c.363+9983T= | |
| 6 | g.63721346T>A | CA450862515 | EYS,PHF3 | c.*7638T>A (n.*7638T>A) c.8685A>T (p.Thr2895=) c.8748A>T (p.Thr2916=) c.363+9984T>A | |
| 6 | g.63721346T>C | CA450862512 | EYS,PHF3 | c.*7638T>C (n.*7638T>C) c.8685A>G (p.Thr2895=) c.8748A>G (p.Thr2916=) c.363+9984T>C | |
| 6 | g.63721346T>G | CA450862513 | EYS,PHF3 | c.*7638T>G (n.*7638T>G) c.8685A>C (p.Thr2895=) c.8748A>C (p.Thr2916=) c.363+9984T>G | |
| 6 | g.63721347_63721353dup | CA3876699 | EYS,PHF3 | c.*7639_*7645dup (n.*7639_*7645dup) c.8679_8685dup (p.Thr2896TrpfsTer18) c.8742_8748dup (p.Thr2917TrpfsTer18) c.363+9985_363+9991dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.63721347G>A | CA364384210 | EYS,PHF3 | c.*7639G>A (n.*7639G>A) c.8684C>T (p.Thr2895Ile) c.8747C>T (p.Thr2916Ile) c.363+9985G>A | gnomAD v4 |
| 6 | g.63721347G>C | CA364384212 | EYS,PHF3 | c.*7639G>C (n.*7639G>C) c.8684C>G (p.Thr2895Arg) c.8747C>G (p.Thr2916Arg) c.363+9985G>C | |
| 6 | g.63721347G>T | CA364384211 | EYS,PHF3 | c.*7639G>T (n.*7639G>T) c.8684C>A (p.Thr2895Lys) c.8747C>A (p.Thr2916Lys) c.363+9985G>T | |
| 6 | g.63721347_63721349del | CA2544887115 | EYS,PHF3 | c.*7639_*7641del (n.*7639_*7641del) c.8682_8684del (p.Thr2895del) c.8745_8747del (p.Thr2916del) c.363+9985_363+9987del | |
| 6 | g.63721348T>A | CA364384213 | EYS,PHF3 | c.*7640T>A (n.*7640T>A) c.8683A>T (p.Thr2895Ser) c.8746A>T (p.Thr2916Ser) c.363+9986T>A | |
| 6 | g.63721348T>C | CA364384214 | EYS,PHF3 | c.*7640T>C (n.*7640T>C) c.8683A>G (p.Thr2895Ala) c.8746A>G (p.Thr2916Ala) c.363+9986T>C | dbSNP gnomAD v4 |
| 6 | g.63721348T>G | CA364384215 | EYS,PHF3 | c.*7640T>G (n.*7640T>G) c.8683A>C (p.Thr2895Pro) c.8746A>C (p.Thr2916Pro) c.363+9986T>G | gnomAD v4 |
| 6 | g.63721348T= | CA1633381781 | EYS,PHF3 | c.*7640T= (n.*7640T=) c.8683A= (p.Thr2895=) c.8746A= (p.Thr2916=) c.363+9986T= | |
| 6 | g.63721349G>A | CA450862521 | EYS,PHF3 | c.*7641G>A (n.*7641G>A) c.8682C>T (p.Gly2894=) c.8745C>T (p.Gly2915=) c.363+9987G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721349G>C | CA450862522 | EYS,PHF3 | c.*7641G>C (n.*7641G>C) c.8682C>G (p.Gly2894=) c.8745C>G (p.Gly2915=) c.363+9987G>C | |
| 6 | g.63721349G= | CA1633381782 | EYS,PHF3 | c.*7641G= (n.*7641G=) c.8682C= (p.Gly2894=) c.8745C= (p.Gly2915=) c.363+9987G= | |
| 6 | g.63721349G>T | CA450862524 | EYS,PHF3 | c.*7641G>T (n.*7641G>T) c.8682C>A (p.Gly2894=) c.8745C>A (p.Gly2915=) c.363+9987G>T | |
| 6 | g.63721350C>A | CA364384216 | EYS,PHF3 | c.*7642C>A (n.*7642C>A) c.8681G>T (p.Gly2894Val) c.8744G>T (p.Gly2915Val) c.363+9988C>A | |
| 6 | g.63721350C>G | CA364384217 | EYS,PHF3 | c.*7642C>G (n.*7642C>G) c.8681G>C (p.Gly2894Ala) c.8744G>C (p.Gly2915Ala) c.363+9988C>G | |
| 6 | g.63721350C>T | CA364384218 | EYS,PHF3 | c.*7642C>T (n.*7642C>T) c.8681G>A (p.Gly2894Asp) c.8744G>A (p.Gly2915Asp) c.363+9988C>T | gnomAD v4 |
| 6 | g.63721351C>A | CA364384219 | EYS,PHF3 | c.*7643C>A (n.*7643C>A) c.8680G>T (p.Gly2894Cys) c.8743G>T (p.Gly2915Cys) c.363+9989C>A | |
| 6 | g.63721351C= | CA1633381785 | EYS,PHF3 | c.*7643C= (n.*7643C=) c.8680G= (p.Gly2894=) c.8743G= (p.Gly2915=) c.363+9989C= | |
| 6 | g.63721351C>G | CA364384220 | EYS,PHF3 | c.*7643C>G (n.*7643C>G) c.8680G>C (p.Gly2894Arg) c.8743G>C (p.Gly2915Arg) c.363+9989C>G | |
| 6 | g.63721351C>T | CA140236831 | EYS,PHF3 | c.*7643C>T (n.*7643C>T) c.8680G>A (p.Gly2894Ser) c.8743G>A (p.Gly2915Ser) c.363+9989C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.63721352A= | CA1633381787 | EYS,PHF3 | c.*7644A= (n.*7644A=) c.8679T= (p.Asn2893=) c.8742T= (p.Asn2914=) c.363+9990A= | |
| 6 | g.63721352A>C | CA364384221 | EYS,PHF3 | c.*7644A>C (n.*7644A>C) c.8679T>G (p.Asn2893Lys) c.8742T>G (p.Asn2914Lys) c.363+9990A>C | |
| 6 | g.63721352A>G | CA3876700 | EYS,PHF3 | c.*7644A>G (n.*7644A>G) c.8679T>C (p.Asn2893=) c.8742T>C (p.Asn2914=) c.363+9990A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721352A>T | CA364384222 | EYS,PHF3 | c.*7644A>T (n.*7644A>T) c.8679T>A (p.Asn2893Lys) c.8742T>A (p.Asn2914Lys) c.363+9990A>T | gnomAD v4 |
| 6 | g.63721352_63721353delinsAT | CA1633381789 | EYS,PHF3 | c.*7644_*7645delinsAT (n.*7644_*7645delinsAT) c.8678_8679delinsAT (p.Asn2893=) c.8741_8742delinsAT (p.Asn2914=) c.363+9990_363+9991delinsAT | |
| 6 | g.63721352_63721353insCCG | CA2504698354 | EYS,PHF3 | c.*7644_*7645insCCG (n.*7644_*7645insCCG) c.8678_8679insCGG (p.Asn2893_Gly2894insGly) c.8741_8742insCGG (p.Asn2914_Gly2915insGly) c.363+9990_363+9991insCCG | |
| 6 | g.63721353T>A | CA364384224 | EYS,PHF3 | c.*7645T>A (n.*7645T>A) c.8678A>T (p.Asn2893Ile) c.8741A>T (p.Asn2914Ile) c.363+9991T>A | |
| 6 | g.63721353T>C | CA140236832 | EYS,PHF3 | c.*7645T>C (n.*7645T>C) c.8678A>G (p.Asn2893Ser) c.8741A>G (p.Asn2914Ser) c.363+9991T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721353T>G | CA364384223 | EYS,PHF3 | c.*7645T>G (n.*7645T>G) c.8678A>C (p.Asn2893Thr) c.8741A>C (p.Asn2914Thr) c.363+9991T>G | |
| 6 | g.63721353T= | CA1633381793 | EYS,PHF3 | c.*7645T= (n.*7645T=) c.8678A= (p.Asn2893=) c.8741A= (p.Asn2914=) c.363+9991T= | |
| 6 | g.63721355dup | CA2573141295 | EYS,PHF3 | c.*7647dup (n.*7647dup) c.8678dup (p.Asn2893LysfsTer19) c.8741dup (p.Asn2914LysfsTer19) c.363+9993dup | ClinVar dbSNP |
| 6 | g.63721355del | CA658796781 | EYS,PHF3 | c.*7647del (n.*7647del) c.8678del (p.Asn2893MetfsTer25) c.8741del (p.Asn2914MetfsTer25) c.363+9993del | ClinVar dbSNP |
| 6 | g.63721354T>A | CA364384225 | EYS,PHF3 | c.*7646T>A (n.*7646T>A) c.8677A>T (p.Asn2893Tyr) c.8740A>T (p.Asn2914Tyr) c.363+9992T>A | |
| 6 | g.63721354T>C | CA364384227 | EYS,PHF3 | c.*7646T>C (n.*7646T>C) c.8677A>G (p.Asn2893Asp) c.8740A>G (p.Asn2914Asp) c.363+9992T>C | |
| 6 | g.63721354T>G | CA364384226 | EYS,PHF3 | c.*7646T>G (n.*7646T>G) c.8677A>C (p.Asn2893His) c.8740A>C (p.Asn2914His) c.363+9992T>G | |
| 6 | g.63721354_63721355insAG | CA2679279891 | EYS,PHF3 | c.*7646_*7647insAG (n.*7646_*7647insAG) c.8676_8677insCT (p.Asn2893LeufsTer26) c.8739_8740insCT (p.Asn2914LeufsTer26) c.363+9992_363+9993insAG | gnomAD v4 |
| 6 | g.63721355T>A | CA450862536 | EYS,PHF3 | c.*7647T>A (n.*7647T>A) c.8676A>T (p.Val2892=) c.8739A>T (p.Val2913=) c.363+9993T>A | |
| 6 | g.63721355T>C | CA450862532 | EYS,PHF3 | c.*7647T>C (n.*7647T>C) c.8676A>G (p.Val2892=) c.8739A>G (p.Val2913=) c.363+9993T>C | |
| 6 | g.63721355T>G | CA450862533 | EYS,PHF3 | c.*7647T>G (n.*7647T>G) c.8676A>C (p.Val2892=) c.8739A>C (p.Val2913=) c.363+9993T>G | ClinVar dbSNP |
| 6 | g.63721356A= | CA1633381796 | EYS,PHF3 | c.*7648A= (n.*7648A=) c.8675T= (p.Val2892=) c.8738T= (p.Val2913=) c.363+9994A= | |
| 6 | g.63721356A>C | CA364384228 | EYS,PHF3 | c.*7648A>C (n.*7648A>C) c.8675T>G (p.Val2892Gly) c.8738T>G (p.Val2913Gly) c.363+9994A>C | |
| 6 | g.63721356A>G | CA364384229 | EYS,PHF3 | c.*7648A>G (n.*7648A>G) c.8675T>C (p.Val2892Ala) c.8738T>C (p.Val2913Ala) c.363+9994A>G | |
| 6 | g.63721356A>T | CA364384230 | EYS,PHF3 | c.*7648A>T (n.*7648A>T) c.8675T>A (p.Val2892Glu) c.8738T>A (p.Val2913Glu) c.363+9994A>T | |
| 6 | g.63721356_63721357insAATGGCACATTCAC | CA568118954 | EYS,PHF3 | c.*7648_*7649insAATGGCACATTCAC (n.*7648_*7649insAATGGCACATTCAC) c.8674_8675insGTGAATGTGCCATT (p.Val2892GlyfsTer6) c.8737_8738insGTGAATGTGCCATT (p.Val2913GlyfsTer6) c.363+9994_363+9995insAATGGCACATTCAC | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721357C>A | CA364384231 | EYS,PHF3 | c.*7649C>A (n.*7649C>A) c.8674G>T (p.Val2892Leu) c.8737G>T (p.Val2913Leu) c.363+9995C>A | |
| 6 | g.63721357C= | CA1633381799 | EYS,PHF3 | c.*7649C= (n.*7649C=) c.8674G= (p.Val2892=) c.8737G= (p.Val2913=) c.363+9995C= | |
| 6 | g.63721357C>G | CA364384232 | EYS,PHF3 | c.*7649C>G (n.*7649C>G) c.8674G>C (p.Val2892Leu) c.8737G>C (p.Val2913Leu) c.363+9995C>G | gnomAD v4 |
| 6 | g.63721357C>T | CA364384233 | EYS,PHF3 | c.*7649C>T (n.*7649C>T) c.8674G>A (p.Val2892Ile) c.8737G>A (p.Val2913Ile) c.363+9995C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721358del | CA2771457324 | EYS,PHF3 | c.*7650del (n.*7650del) c.8673del (p.Val2892Ter) c.8736del (p.Val2913Ter) c.363+9996del | |
| 6 | g.63721358T>A | CA450862542 | EYS,PHF3 | c.*7650T>A (n.*7650T>A) c.8673A>T (p.Thr2891=) c.8736A>T (p.Thr2912=) c.363+9996T>A | |
| 6 | g.63721358T>C | CA450862543 | EYS,PHF3 | c.*7650T>C (n.*7650T>C) c.8673A>G (p.Thr2891=) c.8736A>G (p.Thr2912=) c.363+9996T>C | |
| 6 | g.63721358T>G | CA450862546 | EYS,PHF3 | c.*7650T>G (n.*7650T>G) c.8673A>C (p.Thr2891=) c.8736A>C (p.Thr2912=) c.363+9996T>G | ClinVar |
| 6 | g.63721358T= | CA1633381802 | EYS,PHF3 | c.*7650T= (n.*7650T=) c.8673A= (p.Thr2891=) c.8736A= (p.Thr2912=) c.363+9996T= | |
| 6 | g.63721358_63721359insCCATTAGTAAATG | CA568118955 | EYS,PHF3 | c.*7650_*7651insCCATTAGTAAATG (n.*7650_*7651insCCATTAGTAAATG) c.8672_8673insCATTTACTAATGG (p.Val2892IlefsTer3) c.8735_8736insCATTTACTAATGG (p.Val2913IlefsTer3) c.363+9996_363+9997insCCATTAGTAAATG | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721359G>A | CA364384234 | EYS,PHF3 | c.*7651G>A (n.*7651G>A) c.8672C>T (p.Thr2891Ile) c.8735C>T (p.Thr2912Ile) c.363+9997G>A | dbSNP |
| 6 | g.63721359G>C | CA364384235 | EYS,PHF3 | c.*7651G>C (n.*7651G>C) c.8672C>G (p.Thr2891Arg) c.8735C>G (p.Thr2912Arg) c.363+9997G>C | |
| 6 | g.63721359G= | CA1633381805 | EYS,PHF3 | c.*7651G= (n.*7651G=) c.8672C= (p.Thr2891=) c.8735C= (p.Thr2912=) c.363+9997G= | |
| 6 | g.63721359G>T | CA364384236 | EYS,PHF3 | c.*7651G>T (n.*7651G>T) c.8672C>A (p.Thr2891Lys) c.8735C>A (p.Thr2912Lys) c.363+9997G>T | |
| 6 | g.63721359_63721363delinsGTACA | CA1633381804 | EYS,PHF3 | c.*7651_*7655delinsGTACA (n.*7651_*7655delinsGTACA) c.8668_8672delinsTGTAC (p.Cys2890=) c.8731_8735delinsTGTAC (p.Cys2911=) c.363+9997_363+10001delinsGTACA | |
| 6 | g.63721360T>A | CA364384237 | EYS,PHF3 | c.*7652T>A (n.*7652T>A) c.8671A>T (p.Thr2891Ser) c.8734A>T (p.Thr2912Ser) c.363+9998T>A | |
| 6 | g.63721360T>C | CA364384238 | EYS,PHF3 | c.*7652T>C (n.*7652T>C) c.8671A>G (p.Thr2891Ala) c.8734A>G (p.Thr2912Ala) c.363+9998T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721360T>G | CA364384239 | EYS,PHF3 | c.*7652T>G (n.*7652T>G) c.8671A>C (p.Thr2891Pro) c.8734A>C (p.Thr2912Pro) c.363+9998T>G | |
| 6 | g.63721360T= | CA1633381808 | EYS,PHF3 | c.*7652T= (n.*7652T=) c.8671A= (p.Thr2891=) c.8734A= (p.Thr2912=) c.363+9998T= | |
| 6 | g.63721361_63721364del | CA568118957 | EYS,PHF3 | c.*7653_*7656del (n.*7653_*7656del) c.8668_8671del (p.Cys2890GlnfsTer2) c.8731_8734del (p.Cys2911GlnfsTer2) c.363+9999_363+10002del | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63721361A= | CA1633381809 | EYS,PHF3 | c.*7653A= (n.*7653A=) c.8670T= (p.Cys2890=) c.8733T= (p.Cys2911=) c.363+9999A= | |
| 6 | g.63721361A>C | CA364384240 | EYS,PHF3 | c.*7653A>C (n.*7653A>C) c.8670T>G (p.Cys2890Trp) c.8733T>G (p.Cys2911Trp) c.363+9999A>C | gnomAD v4 |
| 6 | g.63721361A>G | CA450862550 | EYS,PHF3 | c.*7653A>G (n.*7653A>G) c.8670T>C (p.Cys2890=) c.8733T>C (p.Cys2911=) c.363+9999A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63721361A>T | CA364384241 | EYS,PHF3 | c.*7653A>T (n.*7653A>T) c.8670T>A (p.Cys2890Ter) c.8733T>A (p.Cys2911Ter) c.363+9999A>T | ClinVar dbSNP |
| 6 | g.63721362C>A | CA364384242 | EYS,PHF3 | c.*7654C>A (n.*7654C>A) c.8669G>T (p.Cys2890Phe) c.8732G>T (p.Cys2911Phe) c.363+10000C>A | |
| 6 | g.63721362C>G | CA364384243 | EYS,PHF3 | c.*7654C>G (n.*7654C>G) c.8669G>C (p.Cys2890Ser) c.8732G>C (p.Cys2911Ser) c.363+10000C>G | |
| 6 | g.63721362C>T | CA364384244 | EYS,PHF3 | c.*7654C>T (n.*7654C>T) c.8669G>A (p.Cys2890Tyr) c.8732G>A (p.Cys2911Tyr) c.363+10000C>T | |
| 6 | g.63721363A>C | CA364384245 | EYS,PHF3 | c.*7655A>C (n.*7655A>C) c.8668T>G (p.Cys2890Gly) c.8731T>G (p.Cys2911Gly) c.363+10001A>C | |
| 6 | g.63721363A>G | CA364384246 | EYS,PHF3 | c.*7655A>G (n.*7655A>G) c.8668T>C (p.Cys2890Arg) c.8731T>C (p.Cys2911Arg) c.363+10001A>G | gnomAD v4 |
| 6 | g.63721363A>T | CA364384247 | EYS,PHF3 | c.*7655A>T (n.*7655A>T) c.8668T>A (p.Cys2890Ser) c.8731T>A (p.Cys2911Ser) c.363+10001A>T | |
| 6 | g.63721364T>A | CA364384248 | EYS,PHF3 | c.*7656T>A (n.*7656T>A) c.8667A>T (p.Glu2889Asp) c.8730A>T (p.Glu2910Asp) c.363+10002T>A | |
| 6 | g.63721364T>C | CA450862552 | EYS,PHF3 | c.*7656T>C (n.*7656T>C) c.8667A>G (p.Glu2889=) c.8730A>G (p.Glu2910=) c.363+10002T>C | |
| 6 | g.63721364T>G | CA364384249 | EYS,PHF3 | c.*7656T>G (n.*7656T>G) c.8667A>C (p.Glu2889Asp) c.8730A>C (p.Glu2910Asp) c.363+10002T>G | |
| 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 |