| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.63788058_63788064del | CA2679298302 | EYS | c.7723+41_7723+47del (n.7723+41_7723+47del) c.1037+41_1037+47del n.363+41_363+47del | gnomAD v4 |
| 6 | g.63788064_63788065insTTTTTTTTT | CA567703038 | EYS | c.7723+43_7723+44insAAAAAAAAA (n.7723+43_7723+44insAAAAAAAAA) c.1037+43_1037+44insAAAAAAAAA n.363+43_363+44insAAAAAAAAA | dbSNP gnomAD v2 |
| 6 | g.63788063T>C | CA2679298307 | EYS | c.7723+42A>G (n.7723+42A>G) c.1037+42A>G n.363+42A>G | gnomAD v4 |
| 6 | g.63788064T>G | CA2679298308 | EYS | c.7723+41A>C (n.7723+41A>C) c.1037+41A>C n.363+41A>C | gnomAD v4 |
| 6 | g.63788065G>C | CA650369658 | EYS | c.7723+40C>G (n.7723+40C>G) c.1037+40C>G n.363+40C>G | COSMIC |
| 6 | g.63788065G>T | CA2679298309 | EYS | c.7723+40C>A (n.7723+40C>A) c.1037+40C>A n.363+40C>A | gnomAD v4 |
| 6 | g.63788067A>G | CA2679298310 | EYS | c.7723+38T>C (n.7723+38T>C) c.1037+38T>C n.363+38T>C | gnomAD v4 |
| 6 | g.63788068A>G | CA2578659738 | EYS | c.7723+37T>C (n.7723+37T>C) c.1037+37T>C n.363+37T>C | |
| 6 | g.63788069T>C | CA2679298312 | EYS | c.7723+36A>G (n.7723+36A>G) c.1037+36A>G n.363+36A>G | gnomAD v4 |
| 6 | g.63788069_63788070delinsTA | CA1633415672 | EYS | c.7723+35_7723+36delinsTA (n.7723+35_7723+36delinsTA) c.1037+35_1037+36delinsTA n.363+35_363+36delinsTA | |
| 6 | g.63788071_63788074del | CA2679298311 | EYS | c.7723+33_7723+36del (n.7723+33_7723+36del) c.1037+33_1037+36del n.363+33_363+36del | gnomAD v4 |
| 6 | g.63788070A>G | CA2679298313 | EYS | c.7723+35T>C (n.7723+35T>C) c.1037+35T>C n.363+35T>C | gnomAD v4 |
| 6 | g.63788071del | CA567703039 | EYS | c.7723+35del (n.7723+35del) c.1037+35del n.363+35del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788071A= | CA1633415673 | EYS | c.7723+34T= (n.7723+34T=) c.1037+34T= n.363+34T= | |
| 6 | g.63788071A>C | CA1633415674 | EYS | c.7723+34T>G (n.7723+34T>G) c.1037+34T>G n.363+34T>G | dbSNP |
| 6 | g.63788071A>T | CA2679298314 | EYS | c.7723+34T>A (n.7723+34T>A) c.1037+34T>A n.363+34T>A | gnomAD v4 |
| 6 | g.63788072G>T | CA2679298315 | EYS | c.7723+33C>A (n.7723+33C>A) c.1037+33C>A n.363+33C>A | gnomAD v4 |
| 6 | g.63788073T>C | CA140243928 | EYS | c.7723+32A>G (n.7723+32A>G) c.1037+32A>G n.363+32A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788073T= | CA1633415675 | EYS | c.7723+32A= (n.7723+32A=) c.1037+32A= n.363+32A= | |
| 6 | g.63788074A= | CA1633415676 | EYS | c.7723+31T= (n.7723+31T=) c.1037+31T= n.363+31T= | |
| 6 | g.63788074A>G | CA140243929 | EYS | c.7723+31T>C (n.7723+31T>C) c.1037+31T>C n.363+31T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788075G>A | CA140243930 | EYS | c.7723+30C>T (n.7723+30C>T) c.1037+30C>T n.363+30C>T | dbSNP |
| 6 | g.63788075G= | CA1633415677 | EYS | c.7723+30C= (n.7723+30C=) c.1037+30C= n.363+30C= | |
| 6 | g.63788075G>T | CA140243931 | EYS | c.7723+30C>A (n.7723+30C>A) c.1037+30C>A n.363+30C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788076G>A | CA140243932 | EYS | c.7723+29C>T (n.7723+29C>T) c.1037+29C>T n.363+29C>T | dbSNP gnomAD v4 |
| 6 | g.63788076G>C | CA567703040 | EYS | c.7723+29C>G (n.7723+29C>G) c.1037+29C>G n.363+29C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788076G= | CA1633415678 | EYS | c.7723+29C= (n.7723+29C=) c.1037+29C= n.363+29C= | |
| 6 | g.63788076G>T | CA2679298316 | EYS | c.7723+29C>A (n.7723+29C>A) c.1037+29C>A n.363+29C>A | gnomAD v4 |
| 6 | g.63788077T>C | CA2679298317 | EYS | c.7723+28A>G (n.7723+28A>G) c.1037+28A>G n.363+28A>G | gnomAD v4 |
| 6 | g.63788078A= | CA1633415679 | EYS | c.7723+27T= (n.7723+27T=) c.1037+27T= n.363+27T= | |
| 6 | g.63788078A>G | CA567703041 | EYS | c.7723+27T>C (n.7723+27T>C) c.1037+27T>C n.363+27T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788079T>C | CA2679298318 | EYS | c.7723+26A>G (n.7723+26A>G) c.1037+26A>G n.363+26A>G | gnomAD v4 |
| 6 | g.63788080A>G | CA2679298319 | EYS | c.7723+25T>C (n.7723+25T>C) c.1037+25T>C n.363+25T>C | gnomAD v4 |
| 6 | g.63788081A>G | CA2679298320 | EYS | c.7723+24T>C (n.7723+24T>C) c.1037+24T>C n.363+24T>C | gnomAD v4 |
| 6 | g.63788081A>T | CA2679298321 | EYS | c.7723+24T>A (n.7723+24T>A) c.1037+24T>A n.363+24T>A | gnomAD v4 |
| 6 | g.63788082T>C | CA567703042 | EYS | c.7723+23A>G (n.7723+23A>G) c.1037+23A>G n.363+23A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788082T= | CA1633415680 | EYS | c.7723+23A= (n.7723+23A=) c.1037+23A= n.363+23A= | |
| 6 | g.63788084_63788085delinsTA | CA1633415681 | EYS | c.7723+20_7723+21delinsTA (n.7723+20_7723+21delinsTA) c.1037+20_1037+21delinsTA n.363+20_363+21delinsTA | |
| 6 | g.63788090dup | CA1633415682 | EYS | c.7723+20dup (n.7723+20dup) c.1037+20dup n.363+20dup | dbSNP |
| 6 | g.63788090del | CA1089794844 | EYS | c.7723+20del (n.7723+20del) c.1037+20del n.363+20del | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788090A= | CA1633415683 | EYS | c.7723+15T= (n.7723+15T=) c.1037+15T= n.363+15T= | |
| 6 | g.63788090A>G | CA826975687 | EYS | c.7723+15T>C (n.7723+15T>C) c.1037+15T>C n.363+15T>C | dbSNP |
| 6 | g.63788091T>C | CA2697553491 | EYS | c.7723+14A>G (n.7723+14A>G) c.1037+14A>G n.363+14A>G | ClinVar |
| 6 | g.63788092G>A | CA140243933 | EYS | c.7723+13C>T (n.7723+13C>T) c.1037+13C>T n.363+13C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788092G= | CA1633415684 | EYS | c.7723+13C= (n.7723+13C=) c.1037+13C= n.363+13C= | |
| 6 | g.63788092G>T | CA826975692 | EYS | c.7723+13C>A (n.7723+13C>A) c.1037+13C>A n.363+13C>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788096A= | CA1633415685 | EYS | c.7723+9T= (n.7723+9T=) c.1037+9T= n.363+9T= | |
| 6 | g.63788096A>G | CA3876789 | EYS | c.7723+9T>C (n.7723+9T>C) c.1037+9T>C n.363+9T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788096_63788106delinsATGCCTTACCT | CA1633415686 | EYS | c.7722_7723+9delinsAGGTAAGGCAT c.1036_1037+9delinsAGGTAAGGCAT n.362_363+9delinsAGGTAAGGCAT | |
| 6 | g.63788097T>C | CA2679298322 | EYS | c.7723+8A>G (n.7723+8A>G) c.1037+8A>G n.363+8A>G | gnomAD v4 |
| 6 | g.63788099_63788108del | CA3876788 | EYS | c.7722_7723+8del c.1036_1037+8del n.362_363+8del | dbSNP ExAC |
| 6 | g.63788098G>C | CA2679298323 | EYS | c.7723+7C>G (n.7723+7C>G) c.1037+7C>G n.363+7C>G | gnomAD v4 |
| 6 | g.63788098G>T | CA2679298324 | EYS | c.7723+7C>A (n.7723+7C>A) c.1037+7C>A n.363+7C>A | gnomAD v4 |
| 6 | g.63788099C>A | CA2679298325 | EYS | c.7723+6G>T (n.7723+6G>T) c.1037+6G>T n.363+6G>T | gnomAD v4 |
| 6 | g.63788099C= | CA1633415687 | EYS | c.7723+6G= (n.7723+6G=) c.1037+6G= n.363+6G= | |
| 6 | g.63788099C>G | CA1089794849 | EYS | c.7723+6G>C (n.7723+6G>C) c.1037+6G>C n.363+6G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788099C>T | CA3876790 | EYS | c.7723+6G>A (n.7723+6G>A) c.1037+6G>A n.363+6G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788100C= | CA1633415688 | EYS | c.7723+5G= (n.7723+5G=) c.1037+5G= n.363+5G= | |
| 6 | g.63788100C>T | CA567703043 | EYS | c.7723+5G>A (n.7723+5G>A) c.1037+5G>A n.363+5G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788102T>C | CA2679298326 | EYS | c.7723+3A>G (n.7723+3A>G) c.1037+3A>G n.363+3A>G | gnomAD v4 |
| 6 | g.63788103A>C | CA364384657 | EYS | c.7723+2T>G (n.7723+2T>G) c.1037+2T>G n.363+2T>G | ClinVar dbSNP |
| 6 | g.63788103A>G | CA364384659 | EYS | c.7723+2T>C (n.7723+2T>C) c.1037+2T>C n.363+2T>C | |
| 6 | g.63788103A>T | CA364384661 | EYS | c.7723+2T>A (n.7723+2T>A) c.1037+2T>A n.363+2T>A | |
| 6 | g.63788104C>A | CA364384664 | EYS | c.7723+1G>T (n.7723+1G>T) c.1037+1G>T n.363+1G>T | |
| 6 | g.63788104C= | CA1633415689 | EYS | c.7723+1G= (n.7723+1G=) c.1037+1G= n.363+1G= | |
| 6 | g.63788104C>G | CA364384666 | EYS | c.7723+1G>C (n.7723+1G>C) c.1037+1G>C n.363+1G>C | |
| 6 | g.63788104C>T | CA364384668 | EYS | c.7723+1G>A (n.7723+1G>A) c.1037+1G>A n.363+1G>A | ClinVar dbSNP gnomAD v4 |
| 6 | g.63788105C>A | CA364384672 | EYS | c.7723G>T (p.Gly2575Cys) c.1037G>T n.363G>T | |
| 6 | g.63788105C>G | CA364384673 | EYS | c.7723G>C (p.Gly2575Arg) c.1037G>C n.363G>C | |
| 6 | g.63788105C>T | CA364384675 | EYS | c.7723G>A (p.Gly2575Ser) c.1037G>A n.363G>A | |
| 6 | g.63788106T>A | CA364384678 | EYS | c.7722A>T (p.Gln2574His) c.1036A>T n.362A>T | |
| 6 | g.63788106T>C | CA450742832 | EYS | c.7722A>G (p.Gln2574=) c.1036A>G n.362A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788106T>G | CA364384679 | EYS | c.7722A>C (p.Gln2574His) c.1036A>C n.362A>C | |
| 6 | g.63788106T= | CA1633415690 | EYS | c.7722A= (p.Gln2574=) c.1036A= n.362A= | |
| 6 | g.63788107T>A | CA364384686 | EYS | c.7721A>T (p.Gln2574Leu) c.1035A>T n.361A>T | |
| 6 | g.63788107T>C | CA364384682 | EYS | c.7721A>G (p.Gln2574Arg) c.1035A>G n.361A>G | |
| 6 | g.63788107T>G | CA364384684 | EYS | c.7721A>C (p.Gln2574Pro) c.1035A>C n.361A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788107T= | CA1633415691 | EYS | c.7721A= (p.Gln2574=) c.1035A= n.361A= | |
| 6 | g.63788108G>A | CA364384690 | EYS | c.7720C>T (p.Gln2574Ter) c.1034C>T n.360C>T | |
| 6 | g.63788108G>C | CA364384691 | EYS | c.7720C>G (p.Gln2574Glu) c.1034C>G n.360C>G | |
| 6 | g.63788108G>T | CA364384693 | EYS | c.7720C>A (p.Gln2574Lys) c.1034C>A n.360C>A | |
| 6 | g.63788109A= | CA1633415692 | EYS | c.7719T= (p.Phe2573=) c.1033T= n.359T= | |
| 6 | g.63788109A>C | CA364384695 | EYS | c.7719T>G (p.Phe2573Leu) c.1033T>G n.359T>G | |
| 6 | g.63788109A>G | CA450742833 | EYS | c.7719T>C (p.Phe2573=) c.1033T>C n.359T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788109A>T | CA364384697 | EYS | c.7719T>A (p.Phe2573Leu) c.1033T>A n.359T>A | gnomAD v4 |
| 6 | g.63788110A>C | CA364384700 | EYS | c.7718T>G (p.Phe2573Cys) c.1032T>G n.358T>G | |
| 6 | g.63788110A>G | CA364384702 | EYS | c.7718T>C (p.Phe2573Ser) c.1032T>C n.358T>C | |
| 6 | g.63788110A>T | CA364384704 | EYS | c.7718T>A (p.Phe2573Tyr) c.1032T>A n.358T>A | |
| 6 | g.63788111A>C | CA364384707 | EYS | c.7717T>G (p.Phe2573Val) c.1031T>G n.357T>G | |
| 6 | g.63788111A>G | CA364384710 | EYS | c.7717T>C (p.Phe2573Leu) c.1031T>C n.357T>C | |
| 6 | g.63788111A>T | CA364384712 | EYS | c.7717T>A (p.Phe2573Ile) c.1031T>A n.357T>A | |
| 6 | g.63788112A>C | CA450742834 | EYS | c.7716T>G (p.Gly2572=) c.1030T>G n.356T>G | |
| 6 | g.63788112A>G | CA450742836 | EYS | c.7716T>C (p.Gly2572=) c.1030T>C n.356T>C | ClinVar COSMIC |
| 6 | g.63788112A>T | CA450742835 | EYS | c.7716T>A (p.Gly2572=) c.1030T>A n.356T>A | |
| 6 | g.63788113C>A | CA364384717 | EYS | c.7715G>T (p.Gly2572Val) c.1029G>T n.355G>T | |
| 6 | g.63788113C>G | CA364384723 | EYS | c.7715G>C (p.Gly2572Ala) c.1029G>C n.355G>C | |
| 6 | g.63788113C>T | CA364384715 | EYS | c.7715G>A (p.Gly2572Asp) c.1029G>A n.355G>A | |
| 6 | g.63788114C>A | CA364384725 | EYS | c.7714G>T (p.Gly2572Cys) c.1028G>T n.354G>T | |
| 6 | g.63788114C= | CA1633415693 | EYS | c.7714G= (p.Gly2572=) c.1028G= n.354G= | |
| 6 | g.63788114C>G | CA364384726 | EYS | c.7714G>C (p.Gly2572Arg) c.1028G>C n.354G>C | |
| 6 | g.63788114C>T | CA364384727 | EYS | c.7714G>A (p.Gly2572Ser) c.1028G>A n.354G>A | dbSNP |
| 6 | g.63788115A= | CA1633415694 | EYS | c.7713T= (p.Asn2571=) c.1027T= n.353T= | |
| 6 | g.63788115A>C | CA364384728 | EYS | c.7713T>G (p.Asn2571Lys) c.1027T>G n.353T>G | |
| 6 | g.63788115A>G | CA450742837 | EYS | c.7713T>C (p.Asn2571=) c.1027T>C n.353T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788115A>T | CA364384729 | EYS | c.7713T>A (p.Asn2571Lys) c.1027T>A n.353T>A | |
| 6 | g.63788116T>A | CA364384730 | EYS | c.7712A>T (p.Asn2571Ile) c.1026A>T n.352A>T | |
| 6 | g.63788116T>C | CA364384731 | EYS | c.7712A>G (p.Asn2571Ser) c.1026A>G n.352A>G | |
| 6 | g.63788116T>G | CA364384732 | EYS | c.7712A>C (p.Asn2571Thr) c.1026A>C n.352A>C | |
| 6 | g.63788117T>A | CA364384733 | EYS | c.7711A>T (p.Asn2571Tyr) c.1025A>T n.351A>T | |
| 6 | g.63788117T>C | CA364384734 | EYS | c.7711A>G (p.Asn2571Asp) c.1025A>G n.351A>G | |
| 6 | g.63788117T>G | CA364384736 | EYS | c.7711A>C (p.Asn2571His) c.1025A>C n.351A>C | gnomAD v4 |
| 6 | g.63788118T>A | CA364384738 | EYS | c.7710A>T (p.Lys2570Asn) c.1024A>T n.350A>T | |
| 6 | g.63788118T>C | CA450742838 | EYS | c.7710A>G (p.Lys2570=) c.1024A>G n.350A>G | |
| 6 | g.63788118T>G | CA364384741 | EYS | c.7710A>C (p.Lys2570Asn) c.1024A>C n.350A>C | |
| 6 | g.63788119T>A | CA364384748 | EYS | c.7709A>T (p.Lys2570Ile) c.1023A>T n.349A>T | |
| 6 | g.63788119T>C | CA364384746 | EYS | c.7709A>G (p.Lys2570Arg) c.1023A>G n.349A>G | |
| 6 | g.63788119T>G | CA364384744 | EYS | c.7709A>C (p.Lys2570Thr) c.1023A>C n.349A>C | |
| 6 | g.63788120T>A | CA364384751 | EYS | c.7708A>T (p.Lys2570Ter) c.1022A>T n.348A>T | ClinVar |
| 6 | g.63788120T>C | CA364384752 | EYS | c.7708A>G (p.Lys2570Glu) c.1022A>G n.348A>G | |
| 6 | g.63788120T>G | CA364384754 | EYS | c.7708A>C (p.Lys2570Gln) c.1022A>C n.348A>C | |
| 6 | g.63788121A>C | CA364384757 | EYS | c.7707T>G (p.Phe2569Leu) c.1021T>G n.347T>G | |
| 6 | g.63788121A>G | CA450742839 | EYS | c.7707T>C (p.Phe2569=) c.1021T>C n.347T>C | |
| 6 | g.63788121A>T | CA364384758 | EYS | c.7707T>A (p.Phe2569Leu) c.1021T>A n.347T>A | |
| 6 | g.63788122A>C | CA364384762 | EYS | c.7706T>G (p.Phe2569Cys) c.1020T>G n.346T>G | |
| 6 | g.63788122A>G | CA364384764 | EYS | c.7706T>C (p.Phe2569Ser) c.1020T>C n.346T>C | |
| 6 | g.63788122A>T | CA364384766 | EYS | c.7706T>A (p.Phe2569Tyr) c.1020T>A n.346T>A | |
| 6 | g.63788123A>C | CA364384769 | EYS | c.7705T>G (p.Phe2569Val) c.1019T>G n.345T>G | |
| 6 | g.63788123A>G | CA364384771 | EYS | c.7705T>C (p.Phe2569Leu) c.1019T>C n.345T>C | |
| 6 | g.63788123A>T | CA364384773 | EYS | c.7705T>A (p.Phe2569Ile) c.1019T>A n.345T>A | |
| 6 | g.63788124A= | CA1633415695 | EYS | c.7704T= (p.Asp2568=) c.1018T= n.344T= | |
| 6 | g.63788124A>C | CA364384776 | EYS | c.7704T>G (p.Asp2568Glu) c.1018T>G n.344T>G | |
| 6 | g.63788124A>G | CA450742840 | EYS | c.7704T>C (p.Asp2568=) c.1018T>C n.344T>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788124A>T | CA364384777 | EYS | c.7704T>A (p.Asp2568Glu) c.1018T>A n.344T>A | |
| 6 | g.63788125T>A | CA364384781 | EYS | c.7703A>T (p.Asp2568Val) c.1017A>T n.343A>T | |
| 6 | g.63788125T>C | CA364384785 | EYS | c.7703A>G (p.Asp2568Gly) c.1017A>G n.343A>G | |
| 6 | g.63788125T>G | CA364384783 | EYS | c.7703A>C (p.Asp2568Ala) c.1017A>C n.343A>C | |
| 6 | g.63788125_63788128delinsTCTG | CA1633415696 | EYS | c.7700_7703delinsCAGA (p.Ala2567=) c.1014_1017delinsCAGA n.340_343delinsCAGA | |
| 6 | g.63788126C>A | CA364384789 | EYS | c.7702G>T (p.Asp2568Tyr) c.1016G>T n.342G>T | |
| 6 | g.63788126C>G | CA364384793 | EYS | c.7702G>C (p.Asp2568His) c.1016G>C n.342G>C | |
| 6 | g.63788126C>T | CA364384795 | EYS | c.7702G>A (p.Asp2568Asn) c.1016G>A n.342G>A | gnomAD v4 |
| 6 | g.63788128_63788130del | CA140243934 | EYS | c.7700_7702del (p.Ala2567del) c.1014_1016del n.340_342del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788127T>A | CA450742841 | EYS | c.7701A>T (p.Ala2567=) c.1015A>T n.341A>T | |
| 6 | g.63788127T>C | CA450742842 | EYS | c.7701A>G (p.Ala2567=) c.1015A>G n.341A>G | |
| 6 | g.63788127T>G | CA450742843 | EYS | c.7701A>C (p.Ala2567=) c.1015A>C n.341A>C | ClinVar dbSNP gnomAD v4 |
| 6 | g.63788127T= | CA1633415697 | EYS | c.7701A= (p.Ala2567=) c.1015A= n.341A= | |
| 6 | g.63788128G>A | CA364384800 | EYS | c.7700C>T (p.Ala2567Val) c.1014C>T n.340C>T | gnomAD v4 |
| 6 | g.63788128G>C | CA364384798 | EYS | c.7700C>G (p.Ala2567Gly) c.1014C>G n.340C>G | gnomAD v4 |
| 6 | g.63788128G>T | CA364384803 | EYS | c.7700C>A (p.Ala2567Glu) c.1014C>A n.340C>A | |
| 6 | g.63788129C>A | CA364384807 | EYS | c.7699G>T (p.Ala2567Ser) c.1013G>T n.339G>T | |
| 6 | g.63788129C= | CA1633415698 | EYS | c.7699G= (p.Ala2567=) c.1013G= n.339G= | |
| 6 | g.63788129C>G | CA364384808 | EYS | c.7699G>C (p.Ala2567Pro) c.1013G>C n.339G>C | |
| 6 | g.63788129C>T | CA364384810 | EYS | c.7699G>A (p.Ala2567Thr) c.1013G>A n.339G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788130T>A | CA450742846 | EYS | c.7698A>T (p.Gly2566=) c.1012A>T n.338A>T | |
| 6 | g.63788130T>C | CA450742845 | EYS | c.7698A>G (p.Gly2566=) c.1012A>G n.338A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788130T>G | CA450742844 | EYS | c.7698A>C (p.Gly2566=) c.1012A>C n.338A>C | |
| 6 | g.63788130T= | CA1633415699 | EYS | c.7698A= (p.Gly2566=) c.1012A= n.338A= | |
| 6 | g.63788131C>A | CA364384814 | EYS | c.7697G>T (p.Gly2566Val) c.1011G>T n.337G>T | |
| 6 | g.63788131C= | CA1633415700 | EYS | c.7697G= (p.Gly2566=) c.1011G= n.337G= | |
| 6 | g.63788131C>G | CA364384816 | EYS | c.7697G>C (p.Gly2566Ala) c.1011G>C n.337G>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788131C>T | CA3876791 | EYS | c.7697G>A (p.Gly2566Glu) c.1011G>A n.337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788132C>A | CA364384819 | EYS | c.7696G>T (p.Gly2566Ter) c.1010G>T n.336G>T | ClinVar gnomAD v4 |
| 6 | g.63788132C>G | CA364384821 | EYS | c.7696G>C (p.Gly2566Arg) c.1010G>C n.336G>C | gnomAD v4 |
| 6 | g.63788132C>T | CA364384823 | EYS | c.7696G>A (p.Gly2566Arg) c.1010G>A n.336G>A | gnomAD v4 |
| 6 | g.63788133A>C | CA364384825 | EYS | c.7695T>G (p.Asn2565Lys) c.1009T>G n.335T>G | |
| 6 | g.63788133A>G | CA450742847 | EYS | c.7695T>C (p.Asn2565=) c.1009T>C n.335T>C | ClinVar |
| 6 | g.63788133A>T | CA364384828 | EYS | c.7695T>A (p.Asn2565Lys) c.1009T>A n.335T>A | |
| 6 | g.63788133_63788134delinsAT | CA1633415701 | EYS | c.7694_7695delinsAT (p.Asn2565=) c.1008_1009delinsAT n.334_335delinsAT | |
| 6 | g.63788134T>A | CA364384835 | EYS | c.7694A>T (p.Asn2565Ile) c.1008A>T n.334A>T | |
| 6 | g.63788134T>C | CA364384837 | EYS | c.7694A>G (p.Asn2565Ser) c.1008A>G n.334A>G | |
| 6 | g.63788134T>G | CA364384833 | EYS | c.7694A>C (p.Asn2565Thr) c.1008A>C n.334A>C | |
| 6 | g.63788136del | CA270062 | EYS | c.7694del (p.Asn2565MetfsTer?) c.1008del n.334del | ClinVar dbSNP |
| 6 | g.63788135T>A | CA364384839 | EYS | c.7693A>T (p.Asn2565Tyr) c.1007A>T n.333A>T | |
| 6 | g.63788135T>C | CA364384841 | EYS | c.7693A>G (p.Asn2565Asp) c.1007A>G n.333A>G | |
| 6 | g.63788135T>G | CA364384842 | EYS | c.7693A>C (p.Asn2565His) c.1007A>C n.333A>C | |
| 6 | g.63788136T>A | CA450742848 | EYS | c.7692A>T (p.Pro2564=) c.1006A>T n.332A>T | |
| 6 | g.63788136T>C | CA450742849 | EYS | c.7692A>G (p.Pro2564=) c.1006A>G n.332A>G | |
| 6 | g.63788136T>G | CA450742850 | EYS | c.7692A>C (p.Pro2564=) c.1006A>C n.332A>C | |
| 6 | g.63788137G>A | CA364384845 | EYS | c.7691C>T (p.Pro2564Leu) c.1005C>T n.331C>T | |
| 6 | g.63788137G>C | CA364384847 | EYS | c.7691C>G (p.Pro2564Arg) c.1005C>G n.331C>G | |
| 6 | g.63788137G>T | CA364384848 | EYS | c.7691C>A (p.Pro2564Gln) c.1005C>A n.331C>A | |
| 6 | g.63788138G>A | CA364384851 | EYS | c.7690C>T (p.Pro2564Ser) c.1004C>T n.330C>T | dbSNP gnomAD v4 |
| 6 | g.63788138G>C | CA364384854 | EYS | c.7690C>G (p.Pro2564Ala) c.1004C>G n.330C>G | gnomAD v4 |
| 6 | g.63788138G= | CA1633415702 | EYS | c.7690C= (p.Pro2564=) c.1004C= n.330C= | |
| 6 | g.63788138G>T | CA140243935 | EYS | c.7690C>A (p.Pro2564Thr) c.1004C>A n.330C>A | dbSNP gnomAD v4 |
| 6 | g.63788139T>A | CA364384857 | EYS | c.7689A>T (p.Leu2563Phe) c.1003A>T n.329A>T | |
| 6 | g.63788139T>C | CA450742852 | EYS | c.7689A>G (p.Leu2563=) c.1003A>G n.329A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788139T>G | CA364384859 | EYS | c.7689A>C (p.Leu2563Phe) c.1003A>C n.329A>C | |
| 6 | g.63788139T= | CA1633415703 | EYS | c.7689A= (p.Leu2563=) c.1003A= n.329A= | |
| 6 | g.63788140A>C | CA364384862 | EYS | c.7688T>G (p.Leu2563Ter) c.1002T>G n.328T>G | |
| 6 | g.63788140A>G | CA364384864 | EYS | c.7688T>C (p.Leu2563Ser) c.1002T>C n.328T>C | |
| 6 | g.63788140A>T | CA364384867 | EYS | c.7688T>A (p.Leu2563Ter) c.1002T>A n.328T>A | |
| 6 | g.63788141A>C | CA364384870 | EYS | c.7687T>G (p.Leu2563Val) c.1001T>G n.327T>G | gnomAD v4 |
| 6 | g.63788141A>G | CA450742853 | EYS | c.7687T>C (p.Leu2563=) c.1001T>C n.327T>C | |
| 6 | g.63788141A>T | CA364384871 | EYS | c.7687T>A (p.Leu2563Ile) c.1001T>A n.327T>A | |
| 6 | g.63788142G>A | CA450742854 | EYS | c.7686C>T (p.Leu2562=) c.1000C>T n.326C>T | dbSNP |
| 6 | g.63788142G>C | CA450742855 | EYS | c.7686C>G (p.Leu2562=) c.1000C>G n.326C>G | |
| 6 | g.63788142G= | CA1633415704 | EYS | c.7686C= (p.Leu2562=) c.1000C= n.326C= | |
| 6 | g.63788142G>T | CA450742856 | EYS | c.7686C>A (p.Leu2562=) c.1000C>A n.326C>A | |
| 6 | g.63788143A= | CA1633415705 | EYS | c.7685T= (p.Leu2562=) c.999T= n.325T= | |
| 6 | g.63788143A>C | CA364384875 | EYS | c.7685T>G (p.Leu2562Arg) c.999T>G n.325T>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788143A>G | CA364384877 | EYS | c.7685T>C (p.Leu2562Pro) c.999T>C n.325T>C | |
| 6 | g.63788143A>T | CA364384879 | EYS | c.7685T>A (p.Leu2562His) c.999T>A n.325T>A | |
| 6 | g.63788144G>A | CA364384881 | EYS | c.7684C>T (p.Leu2562Phe) c.998C>T n.324C>T | gnomAD v4 |
| 6 | g.63788144G>C | CA364384882 | EYS | c.7684C>G (p.Leu2562Val) c.998C>G n.324C>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.63788144G= | CA1633415706 | EYS | c.7684C= (p.Leu2562=) c.998C= n.324C= | |
| 6 | g.63788144G>T | CA364384884 | EYS | c.7684C>A (p.Leu2562Ile) c.998C>A n.324C>A | |
| 6 | g.63788145A>C | CA364384888 | EYS | c.7683T>G (p.Asp2561Glu) c.997T>G n.323T>G | |
| 6 | g.63788145A>G | CA450742857 | EYS | c.7683T>C (p.Asp2561=) c.997T>C n.323T>C | |
| 6 | g.63788145A>T | CA364384886 | EYS | c.7683T>A (p.Asp2561Glu) c.997T>A n.323T>A | |
| 6 | g.63788146T>A | CA364384891 | EYS | c.7682A>T (p.Asp2561Val) c.996A>T n.322A>T | |
| 6 | g.63788146T>C | CA364384894 | EYS | c.7682A>G (p.Asp2561Gly) c.996A>G n.322A>G | |
| 6 | g.63788146T>G | CA364384896 | EYS | c.7682A>C (p.Asp2561Ala) c.996A>C n.322A>C | |
| 6 | g.63788147C>A | CA364384899 | EYS | c.7681G>T (p.Asp2561Tyr) c.995G>T n.321G>T | |
| 6 | g.63788147C= | CA1633415707 | EYS | c.7681G= (p.Asp2561=) c.995G= n.321G= | |
| 6 | g.63788147C>G | CA364384901 | EYS | c.7681G>C (p.Asp2561His) c.995G>C n.321G>C | |
| 6 | g.63788147C>T | CA364384903 | EYS | c.7681G>A (p.Asp2561Asn) c.995G>A n.321G>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788148T>A | CA450742858 | EYS | c.7680A>T (p.Pro2560=) c.994A>T n.320A>T | |
| 6 | g.63788148T>C | CA450742859 | EYS | c.7680A>G (p.Pro2560=) c.994A>G n.320A>G | |
| 6 | g.63788148T>G | CA450742860 | EYS | c.7680A>C (p.Pro2560=) c.994A>C n.320A>C | |
| 6 | g.63788149G>A | CA364384906 | EYS | c.7679C>T (p.Pro2560Leu) c.993C>T n.319C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.63788149G>C | CA364384910 | EYS | c.7679C>G (p.Pro2560Arg) c.993C>G n.319C>G | |
| 6 | g.63788149G= | CA1633415708 | EYS | c.7679C= (p.Pro2560=) c.993C= n.319C= | |
| 6 | g.63788149G>T | CA364384908 | EYS | c.7679C>A (p.Pro2560Gln) c.993C>A n.319C>A | |
| 6 | g.63788150del | CA2679298327 | EYS | c.7679del (p.Pro2560GlnfsTer?) c.993del n.319del | gnomAD v4 |
| 6 | g.63788150G>A | CA364384913 | EYS | c.7678C>T (p.Pro2560Ser) c.992C>T n.318C>T | |
| 6 | g.63788150G>C | CA364384914 | EYS | c.7678C>G (p.Pro2560Ala) c.992C>G n.318C>G | |
| 6 | g.63788150G>T | CA364384917 | EYS | c.7678C>A (p.Pro2560Thr) c.992C>A n.318C>A | |
| 6 | g.63788151A>C | CA450742863 | EYS | c.7677T>G (p.Thr2559=) c.991T>G n.317T>G | |
| 6 | g.63788151A>G | CA450742861 | EYS | c.7677T>C (p.Thr2559=) c.991T>C n.317T>C | |
| 6 | g.63788151A>T | CA450742862 | EYS | c.7677T>A (p.Thr2559=) c.991T>A n.317T>A | |
| 6 | g.63788152G>A | CA140243936 | EYS | c.7676C>T (p.Thr2559Ile) c.990C>T n.316C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.63788152G>C | CA364384922 | EYS | c.7676C>G (p.Thr2559Ser) c.990C>G n.316C>G | |
| 6 | g.63788152G= | CA1633415709 | EYS | c.7676C= (p.Thr2559=) c.990C= n.316C= | |
| 6 | g.63788152G>T | CA364384924 | EYS | c.7676C>A (p.Thr2559Asn) c.990C>A n.316C>A | dbSNP gnomAD v4 |
| 6 | g.63788153T>A | CA364384927 | EYS | c.7675A>T (p.Thr2559Ser) c.989A>T n.315A>T | dbSNP |
| 6 | g.63788153T>C | CA364384929 | EYS | c.7675A>G (p.Thr2559Ala) c.989A>G n.315A>G | ClinVar dbSNP gnomAD v4 |
| 6 | g.63788153T>G | CA364384931 | EYS | c.7675A>C (p.Thr2559Pro) c.989A>C n.315A>C | |
| 6 | g.63788153T= | CA1633415710 | EYS | c.7675A= (p.Thr2559=) c.989A= n.315A= | |
| 6 | g.63788154G>A | CA450742865 | EYS | c.7674C>T (p.Tyr2558=) c.988C>T n.314C>T | gnomAD v4 |
| 6 | g.63788154G>C | CA364384933 | EYS | c.7674C>G (p.Tyr2558Ter) c.988C>G n.314C>G | |
| 6 | g.63788154G>T | CA364384936 | EYS | c.7674C>A (p.Tyr2558Ter) c.988C>A n.314C>A | |
| 6 | g.63788155T>A | CA364384939 | EYS | c.7673A>T (p.Tyr2558Phe) c.987A>T n.313A>T | |
| 6 | g.63788155T>C | CA364384942 | EYS | c.7673A>G (p.Tyr2558Cys) c.987A>G n.313A>G | |
| 6 | g.63788155T>G | CA364384940 | EYS | c.7673A>C (p.Tyr2558Ser) c.987A>C n.313A>C | |
| 6 | g.63788156_63788157del | CA2679298328 | EYS | c.7672_7673del (p.Tyr2558HisfsTer12) c.986_987del n.312_313del | gnomAD v4 |
| 6 | g.63788156A>C | CA364384945 | EYS | c.7672T>G (p.Tyr2558Asp) c.986T>G n.312T>G | |
| 6 | g.63788156A>G | CA364384948 | EYS | c.7672T>C (p.Tyr2558His) c.986T>C n.312T>C | ClinVar dbSNP |
| 6 | g.63788156A>T | CA364384946 | EYS | c.7672T>A (p.Tyr2558Asn) c.986T>A n.312T>A | |
| 6 | g.63788157T>A | CA364384951 | EYS | c.7671A>T (p.Glu2557Asp) c.985A>T n.311A>T | |
| 6 | g.63788157T>C | CA450742866 | EYS | c.7671A>G (p.Glu2557=) c.985A>G n.311A>G | |
| 6 | g.63788157T>G | CA364384953 | EYS | c.7671A>C (p.Glu2557Asp) c.985A>C n.311A>C | |
| 6 | g.63788158T>A | CA364384956 | EYS | c.7670A>T (p.Glu2557Val) c.984A>T n.310A>T | |
| 6 | g.63788158T>C | CA364384958 | EYS | c.7670A>G (p.Glu2557Gly) c.984A>G n.310A>G | |
| 6 | g.63788158T>G | CA364384960 | EYS | c.7670A>C (p.Glu2557Ala) c.984A>C n.310A>C | |
| 6 | g.63788159C>A | CA364384962 | EYS | c.7669G>T (p.Glu2557Ter) c.983G>T n.309G>T | |
| 6 | g.63788159C= | CA1633415711 | EYS | c.7669G= (p.Glu2557=) c.983G= n.309G= | |
| 6 | g.63788159C>G | CA364384964 | EYS | c.7669G>C (p.Glu2557Gln) c.983G>C n.309G>C | |
| 6 | g.63788159C>T | CA140243937 | EYS | c.7669G>A (p.Glu2557Lys) c.983G>A n.309G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788160A>C | CA364384968 | EYS | c.7668T>G (p.Ser2556Arg) c.982T>G n.308T>G | |
| 6 | g.63788160A>G | CA450742867 | EYS | c.7668T>C (p.Ser2556=) c.982T>C n.308T>C | |
| 6 | g.63788160A>T | CA364384970 | EYS | c.7668T>A (p.Ser2556Arg) c.982T>A n.308T>A | dbSNP gnomAD v4 |
| 6 | g.63788161C>A | CA364384976 | EYS | c.7667G>T (p.Ser2556Ile) c.981G>T n.307G>T | |
| 6 | g.63788161C= | CA1633415712 | EYS | c.7667G= (p.Ser2556=) c.981G= n.307G= | |
| 6 | g.63788161C>G | CA364384974 | EYS | c.7667G>C (p.Ser2556Thr) c.981G>C n.307G>C | |
| 6 | g.63788161C>T | CA140243938 | EYS | c.7667G>A (p.Ser2556Asn) c.981G>A n.307G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788162T>A | CA180009 | EYS | c.7666A>T (p.Ser2556Cys) c.980A>T n.306A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788162T>C | CA140243939 | EYS | c.7666A>G (p.Ser2556Gly) c.980A>G n.306A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788162T>G | CA364384982 | EYS | c.7666A>C (p.Ser2556Arg) c.980A>C n.306A>C | |
| 6 | g.63788162T= | CA1633415713 | EYS | c.7666A= (p.Ser2556=) c.980A= n.306A= | |
| 6 | g.63788163_63788164del | CA2679298329 | EYS | c.7665_7666del (p.Tyr2555Ter) c.979_980del n.305_306del | ClinVar dbSNP gnomAD v4 |
| 6 | g.63788163G>A | CA450742868 | EYS | c.7665C>T (p.Tyr2555=) c.979C>T n.305C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.63788163G>C | CA364384985 | EYS | c.7665C>G (p.Tyr2555Ter) c.979C>G n.305C>G | |
| 6 | g.63788163G>T | CA364384988 | EYS | c.7665C>A (p.Tyr2555Ter) c.979C>A n.305C>A | |
| 6 | g.63788163_63788164delinsGT | CA1633415714 | EYS | c.7664_7665delinsAC (p.Tyr2555=) c.978_979delinsAC n.304_305delinsAC |