| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.63788207G>A | CA450742967 | EYS | c.7621C>T (p.Leu2541=) c.935C>T n.261C>T | |
| 6 | g.63788207G>C | CA364385422 | EYS | c.7621C>G (p.Leu2541Val) c.935C>G n.261C>G | |
| 6 | g.63788207G>T | CA364385424 | EYS | c.7621C>A (p.Leu2541Met) c.935C>A n.261C>A | |
| 6 | g.63788208T>A | CA364385437 | EYS | c.7620A>T (p.Arg2540Ser) c.934A>T n.260A>T | gnomAD v4 |
| 6 | g.63788208T>C | CA450742970 | EYS | c.7620A>G (p.Arg2540=) c.934A>G n.260A>G | |
| 6 | g.63788208T>G | CA10624512 | EYS | c.7620A>C (p.Arg2540Ser) c.934A>C n.260A>C | ClinVar dbSNP |
| 6 | g.63788208T= | CA1633415727 | EYS | c.7620A= (p.Arg2540=) c.934A= n.260A= | |
| 6 | g.63788209C>A | CA364385443 | EYS | c.7619G>T (p.Arg2540Ile) c.933G>T n.259G>T | |
| 6 | g.63788209C>G | CA364385447 | EYS | c.7619G>C (p.Arg2540Thr) c.933G>C n.259G>C | |
| 6 | g.63788209C>T | CA364385444 | EYS | c.7619G>A (p.Arg2540Lys) c.933G>A n.259G>A | gnomAD v4 |
| 6 | g.63788210T>A | CA364385449 | EYS | c.7618A>T (p.Arg2540Ter) c.932A>T n.258A>T | |
| 6 | g.63788210T>C | CA364385451 | EYS | c.7618A>G (p.Arg2540Gly) c.932A>G n.258A>G | COSMIC |
| 6 | g.63788210T>G | CA450742979 | EYS | c.7618A>C (p.Arg2540=) c.932A>C n.258A>C | |
| 6 | g.63788211T>A | CA450742982 | EYS | c.7617A>T (p.Gly2539=) c.931A>T n.257A>T | |
| 6 | g.63788211T>C | CA450742984 | EYS | c.7617A>G (p.Gly2539=) c.931A>G n.257A>G | ClinVar dbSNP |
| 6 | g.63788211T>G | CA450742981 | EYS | c.7617A>C (p.Gly2539=) c.931A>C n.257A>C | |
| 6 | g.63788211T= | CA1633415729 | EYS | c.7617A= (p.Gly2539=) c.931A= n.257A= | |
| 6 | g.63788211_63788212delinsTC | CA1633415728 | EYS | c.7616_7617delinsGA (p.Gly2539=) c.930_931delinsGA n.256_257delinsGA | |
| 6 | g.63788212C>A | CA364385453 | EYS | c.7616G>T (p.Gly2539Val) c.930G>T n.256G>T | gnomAD v4 |
| 6 | g.63788212C= | CA1633415730 | EYS | c.7616G= (p.Gly2539=) c.930G= n.256G= | |
| 6 | g.63788212C>G | CA364385455 | EYS | c.7616G>C (p.Gly2539Ala) c.930G>C n.256G>C | dbSNP gnomAD v4 |
| 6 | g.63788212C>T | CA364385457 | EYS | c.7616G>A (p.Gly2539Glu) c.930G>A n.256G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.63788213del | CA826975955 | EYS | c.7616del (p.Gly2539GlufsTer14) c.930del n.256del | dbSNP |
| 6 | g.63788213C>A | CA364385460 | EYS | c.7615G>T (p.Gly2539Ter) c.929G>T n.255G>T | |
| 6 | g.63788213C>G | CA364385462 | EYS | c.7615G>C (p.Gly2539Arg) c.929G>C n.255G>C | |
| 6 | g.63788213C>T | CA364385464 | EYS | c.7615G>A (p.Gly2539Arg) c.929G>A n.255G>A | |
| 6 | g.63788214T>A | CA450742993 | EYS | c.7614A>T (p.Pro2538=) c.928A>T n.254A>T | |
| 6 | g.63788214T>C | CA450742994 | EYS | c.7614A>G (p.Pro2538=) c.928A>G n.254A>G | |
| 6 | g.63788214T>G | CA450742996 | EYS | c.7614A>C (p.Pro2538=) c.928A>C n.254A>C | |
| 6 | g.63788215G>A | CA364385467 | EYS | c.7613C>T (p.Pro2538Leu) c.927C>T n.253C>T | |
| 6 | g.63788215G>C | CA364385469 | EYS | c.7613C>G (p.Pro2538Arg) c.927C>G n.253C>G | |
| 6 | g.63788215G= | CA1633415731 | EYS | c.7613C= (p.Pro2538=) c.927C= n.253C= | |
| 6 | g.63788215G>T | CA364385471 | EYS | c.7613C>A (p.Pro2538Gln) c.927C>A n.253C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788218del | CA2695206599 | EYS | c.7613del (p.Pro2538GlnfsTer15) c.927del n.253del | |
| 6 | g.63788216G>A | CA364385479 | EYS | c.7612C>T (p.Pro2538Ser) c.926C>T n.252C>T | gnomAD v4 COSMIC |
| 6 | g.63788216G>C | CA364385473 | EYS | c.7612C>G (p.Pro2538Ala) c.926C>G n.252C>G | |
| 6 | g.63788216G>T | CA364385475 | EYS | c.7612C>A (p.Pro2538Thr) c.926C>A n.252C>A | |
| 6 | g.63788217G>A | CA450743002 | EYS | c.7611C>T (p.Ala2537=) c.925C>T n.251C>T | ClinVar dbSNP |
| 6 | g.63788217G>C | CA450743003 | EYS | c.7611C>G (p.Ala2537=) c.925C>G n.251C>G | |
| 6 | g.63788217G= | CA1633415732 | EYS | c.7611C= (p.Ala2537=) c.925C= n.251C= | |
| 6 | g.63788217G>T | CA450743004 | EYS | c.7611C>A (p.Ala2537=) c.925C>A n.251C>A | |
| 6 | g.63788218G>A | CA364385480 | EYS | c.7610C>T (p.Ala2537Val) c.924C>T n.250C>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.63788218G>C | CA364385481 | EYS | c.7610C>G (p.Ala2537Gly) c.924C>G n.250C>G | gnomAD v4 |
| 6 | g.63788218G= | CA1633415733 | EYS | c.7610C= (p.Ala2537=) c.924C= n.250C= | |
| 6 | g.63788218G>T | CA364385482 | EYS | c.7610C>A (p.Ala2537Asp) c.924C>A n.250C>A | |
| 6 | g.63788219C>A | CA364385483 | EYS | c.7609G>T (p.Ala2537Ser) c.923G>T n.249G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788219C= | CA1633415734 | EYS | c.7609G= (p.Ala2537=) c.923G= n.249G= | |
| 6 | g.63788219C>G | CA364385484 | EYS | c.7609G>C (p.Ala2537Pro) c.923G>C n.249G>C | |
| 6 | g.63788219C>T | CA3876792 | EYS | c.7609G>A (p.Ala2537Thr) c.923G>A n.249G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.63788220G>A | CA3876793 | EYS | c.7608C>T (p.Ile2536=) c.922C>T n.248C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.63788220G>C | CA364385485 | EYS | c.7608C>G (p.Ile2536Met) c.922C>G n.248C>G | |
| 6 | g.63788220G= | CA1633415735 | EYS | c.7608C= (p.Ile2536=) c.922C= n.248C= | |
| 6 | g.63788220G>T | CA450743012 | EYS | c.7608C>A (p.Ile2536=) c.922C>A n.248C>A | |
| 6 | g.63788221A>C | CA364385486 | EYS | c.7607T>G (p.Ile2536Ser) c.921T>G n.247T>G | |
| 6 | g.63788221A>G | CA364385487 | EYS | c.7607T>C (p.Ile2536Thr) c.921T>C n.247T>C | |
| 6 | g.63788221A>T | CA364385488 | EYS | c.7607T>A (p.Ile2536Asn) c.921T>A n.247T>A | |
| 6 | g.63788222T>A | CA364385490 | EYS | c.7606A>T (p.Ile2536Phe) c.920A>T n.246A>T | |
| 6 | g.63788222T>C | CA364385491 | EYS | c.7606A>G (p.Ile2536Val) c.920A>G n.246A>G | gnomAD v4 |
| 6 | g.63788222T>G | CA364385489 | EYS | c.7606A>C (p.Ile2536Leu) c.920A>C n.246A>C | |
| 6 | g.63788223A>C | CA364385492 | EYS | c.7605T>G (p.Ile2535Met) c.919T>G n.245T>G | |
| 6 | g.63788223A>G | CA450743022 | EYS | c.7605T>C (p.Ile2535=) c.919T>C n.245T>C | |
| 6 | g.63788223A>T | CA450743021 | EYS | c.7605T>A (p.Ile2535=) c.919T>A n.245T>A | |
| 6 | g.63788224A>C | CA364385493 | EYS | c.7604T>G (p.Ile2535Ser) c.918T>G n.244T>G | |
| 6 | g.63788224A>G | CA364385494 | EYS | c.7604T>C (p.Ile2535Thr) c.918T>C n.244T>C | |
| 6 | g.63788224A>T | CA364385495 | EYS | c.7604T>A (p.Ile2535Asn) c.918T>A n.244T>A | |
| 6 | g.63788225T>A | CA364385496 | EYS | c.7603A>T (p.Ile2535Phe) c.917A>T n.243A>T | |
| 6 | g.63788225T>C | CA364385497 | EYS | c.7603A>G (p.Ile2535Val) c.917A>G n.243A>G | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788225T>G | CA364385498 | EYS | c.7603A>C (p.Ile2535Leu) c.917A>C n.243A>C | |
| 6 | g.63788225T= | CA1633415736 | EYS | c.7603A= (p.Ile2535=) c.917A= n.243A= | |
| 6 | g.63788226G>A | CA450743031 | EYS | c.7602C>T (p.Ser2534=) c.916C>T n.242C>T | |
| 6 | g.63788226G>C | CA450743032 | EYS | c.7602C>G (p.Ser2534=) c.916C>G n.242C>G | ClinVar |
| 6 | g.63788226G>T | CA450743034 | EYS | c.7602C>A (p.Ser2534=) c.916C>A n.242C>A | ClinVar |
| 6 | g.63788227G>A | CA364385499 | EYS | c.7601C>T (p.Ser2534Phe) c.915C>T n.241C>T | |
| 6 | g.63788227G>C | CA364385500 | EYS | c.7601C>G (p.Ser2534Cys) c.915C>G n.241C>G | |
| 6 | g.63788227G>T | CA364385502 | EYS | c.7601C>A (p.Ser2534Tyr) c.915C>A n.241C>A | gnomAD v4 |
| 6 | g.63788228A= | CA1633415737 | EYS | c.7600T= (p.Ser2534=) c.914T= n.240T= | |
| 6 | g.63788228A>C | CA364385503 | EYS | c.7600T>G (p.Ser2534Ala) c.914T>G n.240T>G | |
| 6 | g.63788228A>G | CA364385504 | EYS | c.7600T>C (p.Ser2534Pro) c.914T>C n.240T>C | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788228A>T | CA364385505 | EYS | c.7600T>A (p.Ser2534Thr) c.914T>A n.240T>A | |
| 6 | g.63788229T>A | CA364385506 | EYS | c.7599A>T (p.Lys2533Asn) c.913A>T n.239A>T | |
| 6 | g.63788229T>C | CA450743043 | EYS | c.7599A>G (p.Lys2533=) c.913A>G n.239A>G | |
| 6 | g.63788229T>G | CA140243941 | EYS | c.7599A>C (p.Lys2533Asn) c.913A>C n.239A>C | dbSNP gnomAD v4 |
| 6 | g.63788229T= | CA1633415738 | EYS | c.7599A= (p.Lys2533=) c.913A= n.239A= | |
| 6 | g.63788231del | CA2679298333 | EYS | c.7599del (p.Lys2533AsnfsTer20) c.913del n.239del | gnomAD v4 |
| 6 | g.63788230T>A | CA364385507 | EYS | c.7598A>T (p.Lys2533Ile) c.912A>T n.238A>T | |
| 6 | g.63788230T>C | CA364385508 | EYS | c.7598A>G (p.Lys2533Arg) c.912A>G n.238A>G | |
| 6 | g.63788230T>G | CA364385509 | EYS | c.7598A>C (p.Lys2533Thr) c.912A>C n.238A>C | |
| 6 | g.63788231T>A | CA364385510 | EYS | c.7597A>T (p.Lys2533Ter) c.911A>T n.237A>T | ClinVar dbSNP |
| 6 | g.63788231T>C | CA3876794 | EYS | c.7597A>G (p.Lys2533Glu) c.911A>G n.237A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788231T>G | CA364385511 | EYS | c.7597A>C (p.Lys2533Gln) c.911A>C n.237A>C | |
| 6 | g.63788231T= | CA1633415739 | EYS | c.7597A= (p.Lys2533=) c.911A= n.237A= | |
| 6 | g.63788232A>C | CA364385512 | EYS | c.7596T>G (p.Asn2532Lys) c.910T>G n.236T>G | |
| 6 | g.63788232A>G | CA450743052 | EYS | c.7596T>C (p.Asn2532=) c.910T>C n.236T>C | ClinVar dbSNP |
| 6 | g.63788232A>T | CA364385513 | EYS | c.7596T>A (p.Asn2532Lys) c.910T>A n.236T>A | |
| 6 | g.63788233T>A | CA364385514 | EYS | c.7595A>T (p.Asn2532Ile) c.909A>T n.235A>T | |
| 6 | g.63788233T>C | CA364385515 | EYS | c.7595A>G (p.Asn2532Ser) c.909A>G n.235A>G | |
| 6 | g.63788233T>G | CA364385516 | EYS | c.7595A>C (p.Asn2532Thr) c.909A>C n.235A>C | |
| 6 | g.63788234T>A | CA364385517 | EYS | c.7594A>T (p.Asn2532Tyr) c.908A>T n.234A>T | |
| 6 | g.63788234T>C | CA364385518 | EYS | c.7594A>G (p.Asn2532Asp) c.908A>G n.234A>G | |
| 6 | g.63788234T>G | CA3876795 | EYS | c.7594A>C (p.Asn2532His) c.908A>C n.234A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.63788234T= | CA1633415740 | EYS | c.7594A= (p.Asn2532=) c.908A= n.234A= | |
| 6 | g.63788235T>A | CA364385520 | EYS | c.7593A>T (p.Lys2531Asn) c.907A>T n.233A>T | |
| 6 | g.63788235T>C | CA450743060 | EYS | c.7593A>G (p.Lys2531=) c.907A>G n.233A>G | |
| 6 | g.63788235T>G | CA364385519 | EYS | c.7593A>C (p.Lys2531Asn) c.907A>C n.233A>C | |
| 6 | g.63788236T>A | CA364385521 | EYS | c.7592A>T (p.Lys2531Ile) c.906A>T n.232A>T | |
| 6 | g.63788236T>C | CA364385523 | EYS | c.7592A>G (p.Lys2531Arg) c.906A>G n.232A>G | gnomAD v4 |
| 6 | g.63788236T>G | CA364385522 | EYS | c.7592A>C (p.Lys2531Thr) c.906A>C n.232A>C | |
| 6 | g.63788237T>A | CA364385524 | EYS | c.7591A>T (p.Lys2531Ter) c.905A>T n.231A>T | |
| 6 | g.63788237T>C | CA140243942 | EYS | c.7591A>G (p.Lys2531Glu) c.905A>G n.231A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788237T>G | CA364385525 | EYS | c.7591A>C (p.Lys2531Gln) c.905A>C n.231A>C | dbSNP gnomAD v4 |
| 6 | g.63788237T= | CA1633415741 | EYS | c.7591A= (p.Lys2531=) c.905A= n.231A= | |
| 6 | g.63788238A= | CA1633415742 | EYS | c.7590T= (p.His2530=) c.904T= n.230T= | |
| 6 | g.63788238A>C | CA364385526 | EYS | c.7590T>G (p.His2530Gln) c.904T>G n.230T>G | dbSNP |
| 6 | g.63788238A>G | CA450743071 | EYS | c.7590T>C (p.His2530=) c.904T>C n.230T>C | |
| 6 | g.63788238A>T | CA364385527 | EYS | c.7590T>A (p.His2530Gln) c.904T>A n.230T>A | gnomAD v4 |
| 6 | g.63788239T>A | CA364385528 | EYS | c.7589A>T (p.His2530Leu) c.903A>T n.229A>T | |
| 6 | g.63788239T>C | CA364385529 | EYS | c.7589A>G (p.His2530Arg) c.903A>G n.229A>G | |
| 6 | g.63788239T>G | CA364385530 | EYS | c.7589A>C (p.His2530Pro) c.903A>C n.229A>C | |
| 6 | g.63788240G>A | CA140243943 | EYS | c.7588C>T (p.His2530Tyr) c.902C>T n.228C>T | dbSNP gnomAD v4 |
| 6 | g.63788240G>C | CA364385531 | EYS | c.7588C>G (p.His2530Asp) c.902C>G n.228C>G | |
| 6 | g.63788240G= | CA1633415743 | EYS | c.7588C= (p.His2530=) c.902C= n.228C= | |
| 6 | g.63788240G>T | CA364385532 | EYS | c.7588C>A (p.His2530Asn) c.902C>A n.228C>A | |
| 6 | g.63788241A>C | CA364385533 | EYS | c.7587T>G (p.Asp2529Glu) c.901T>G n.227T>G | |
| 6 | g.63788241A>G | CA450743080 | EYS | c.7587T>C (p.Asp2529=) c.901T>C n.227T>C | |
| 6 | g.63788241A>T | CA364385534 | EYS | c.7587T>A (p.Asp2529Glu) c.901T>A n.227T>A | |
| 6 | g.63788242T>A | CA364385535 | EYS | c.7586A>T (p.Asp2529Val) c.900A>T n.226A>T | |
| 6 | g.63788242T>C | CA364385536 | EYS | c.7586A>G (p.Asp2529Gly) c.900A>G n.226A>G | |
| 6 | g.63788242T>G | CA364385537 | EYS | c.7586A>C (p.Asp2529Ala) c.900A>C n.226A>C | |
| 6 | g.63788243C>A | CA364385540 | EYS | c.7585G>T (p.Asp2529Tyr) c.899G>T n.225G>T | |
| 6 | g.63788243C= | CA1633415744 | EYS | c.7585G= (p.Asp2529=) c.899G= n.225G= | |
| 6 | g.63788243C>G | CA364385538 | EYS | c.7585G>C (p.Asp2529His) c.899G>C n.225G>C | gnomAD v4 |
| 6 | g.63788243C>T | CA364385539 | EYS | c.7585G>A (p.Asp2529Asn) c.899G>A n.225G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.63788244A>C | CA364385541 | EYS | c.7584T>G (p.Asp2528Glu) c.898T>G n.224T>G | |
| 6 | g.63788244A>G | CA450743090 | EYS | c.7584T>C (p.Asp2528=) c.898T>C n.224T>C | gnomAD v4 |
| 6 | g.63788244A>T | CA364385542 | EYS | c.7584T>A (p.Asp2528Glu) c.898T>A n.224T>A | |
| 6 | g.63788245del | CA2739273205 | EYS | c.7583del (p.Asp2528ValfsTer25) c.897del n.223del | ClinVar |
| 6 | g.63788245T>A | CA364385543 | EYS | c.7583A>T (p.Asp2528Val) c.897A>T n.223A>T | |
| 6 | g.63788245T>C | CA364385544 | EYS | c.7583A>G (p.Asp2528Gly) c.897A>G n.223A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788245T>G | CA364385545 | EYS | c.7583A>C (p.Asp2528Ala) c.897A>C n.223A>C | |
| 6 | g.63788245T= | CA1633415745 | EYS | c.7583A= (p.Asp2528=) c.897A= n.223A= | |
| 6 | g.63788246C>A | CA364385546 | EYS | c.7582G>T (p.Asp2528Tyr) c.896G>T n.222G>T | gnomAD v4 |
| 6 | g.63788246C>G | CA364385547 | EYS | c.7582G>C (p.Asp2528His) c.896G>C n.222G>C | |
| 6 | g.63788246C>T | CA364385548 | EYS | c.7582G>A (p.Asp2528Asn) c.896G>A n.222G>A | COSMIC |
| 6 | g.63788247del | CA2771459623 | EYS | c.7581del (p.Asp2528MetfsTer25) c.895del n.221del | |
| 6 | g.63788247T>A | CA450743100 | EYS | c.7581A>T (p.Val2527=) c.895A>T n.221A>T | |
| 6 | g.63788247T>C | CA450743102 | EYS | c.7581A>G (p.Val2527=) c.895A>G n.221A>G | |
| 6 | g.63788247T>G | CA450743099 | EYS | c.7581A>C (p.Val2527=) c.895A>C n.221A>C | |
| 6 | g.63788248A= | CA1633415746 | EYS | c.7580T= (p.Val2527=) c.894T= n.220T= | |
| 6 | g.63788248A>C | CA364385549 | EYS | c.7580T>G (p.Val2527Gly) c.894T>G n.220T>G | |
| 6 | g.63788248A>G | CA364385550 | EYS | c.7580T>C (p.Val2527Ala) c.894T>C n.220T>C | dbSNP gnomAD v4 |
| 6 | g.63788248A>T | CA364385551 | EYS | c.7580T>A (p.Val2527Glu) c.894T>A n.220T>A | |
| 6 | g.63788249C>A | CA364385553 | EYS | c.7579G>T (p.Val2527Leu) c.893G>T n.219G>T | gnomAD v4 |
| 6 | g.63788249C>G | CA364385554 | EYS | c.7579G>C (p.Val2527Leu) c.893G>C n.219G>C | |
| 6 | g.63788249C>T | CA364385552 | EYS | c.7579G>A (p.Val2527Ile) c.893G>A n.219G>A | gnomAD v4 |
| 6 | g.63788249_63788250insACA | CA2771459625 | EYS | c.7579-1_7579insTGT (n.7579-1_7579insTGT) c.893-1_893insTGT n.219-1_219insTGT | |
| 6 | g.63788250C>A | CA364385555 | EYS | c.7579-1G>T (n.7579-1G>T) c.893-1G>T n.219-1G>T | ClinVar gnomAD v4 COSMIC |
| 6 | g.63788250C>G | CA364385556 | EYS | c.7579-1G>C (n.7579-1G>C) c.893-1G>C n.219-1G>C | |
| 6 | g.63788250C>T | CA364385557 | EYS | c.7579-1G>A (n.7579-1G>A) c.893-1G>A n.219-1G>A | gnomAD v4 |
| 6 | g.63788250_63788251delinsCT | CA1633415747 | EYS | c.7579-2_7579-1delinsAG (n.7579-2_7579-1delinsAG) c.893-2_893-1delinsAG n.219-2_219-1delinsAG | |
| 6 | g.63788250_63788251insACA | CA2771459626 | EYS | c.7579-2_7579-1insTGT (n.7579-2_7579-1insTGT) c.893-2_893-1insTGT n.219-2_219-1insTGT | |
| 6 | g.63788251T>A | CA364385558 | EYS | c.7579-2A>T (n.7579-2A>T) c.893-2A>T n.219-2A>T | |
| 6 | g.63788251T>C | CA364385559 | EYS | c.7579-2A>G (n.7579-2A>G) c.893-2A>G n.219-2A>G | gnomAD v4 |
| 6 | g.63788251T>G | CA364385560 | EYS | c.7579-2A>C (n.7579-2A>C) c.893-2A>C n.219-2A>C | |
| 6 | g.63788252del | CA140243944 | EYS | c.7579-2del (n.7579-2del) c.893-2del n.219-2del | dbSNP gnomAD v4 |
| 6 | g.63788253C>A | CA1089794913 | EYS | c.7579-4G>T (n.7579-4G>T) c.893-4G>T n.219-4G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788253C= | CA1633415748 | EYS | c.7579-4G= (n.7579-4G=) c.893-4G= n.219-4G= | |
| 6 | g.63788253C>G | CA2771459627 | EYS | c.7579-4G>C (n.7579-4G>C) c.893-4G>C n.219-4G>C | |
| 6 | g.63788253C>T | CA826976018 | EYS | c.7579-4G>A (n.7579-4G>A) c.893-4G>A n.219-4G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788254del | CA2771459628 | EYS | c.7579-5del (n.7579-5del) c.893-5del n.219-5del | |
| 6 | g.63788254G>A | CA140243945 | EYS | c.7579-5C>T (n.7579-5C>T) c.893-5C>T n.219-5C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788254G= | CA1633415749 | EYS | c.7579-5C= (n.7579-5C=) c.893-5C= n.219-5C= | |
| 6 | g.63788254_63788255del | CA2771459629 | EYS | c.7579-6_7579-5del (n.7579-6_7579-5del) c.893-6_893-5del n.219-6_219-5del | |
| 6 | g.63788255A>T | CA2739273206 | EYS | c.7579-6T>A (n.7579-6T>A) c.893-6T>A n.219-6T>A | ClinVar |
| 6 | g.63788256A>C | CA2771459630 | EYS | c.7579-7T>G (n.7579-7T>G) c.893-7T>G n.219-7T>G | |
| 6 | g.63788256_63788257insCT | CA2771459631 | EYS | c.7579-8_7579-7insAG (n.7579-8_7579-7insAG) c.893-8_893-7insAG n.219-8_219-7insAG | |
| 6 | g.63788256_63788257insTTGTGTGTGTGTGTGTGTGTT | CA2679298334 | EYS | c.7579-8_7579-7insAACACACACACACACACACAA (n.7579-8_7579-7insAACACACACACACACACACAA) c.893-8_893-7insAACACACACACACACACACAA n.219-8_219-7insAACACACACACACACACACAA | gnomAD v4 |
| 6 | g.63788257A= | CA1633415750 | EYS | c.7579-8T= (n.7579-8T=) c.893-8T= n.219-8T= | |
| 6 | g.63788257A>G | CA2679298335 | EYS | c.7579-8T>C (n.7579-8T>C) c.893-8T>C n.219-8T>C | gnomAD v4 |
| 6 | g.63788258G>A | CA140243947 | EYS | c.7579-9C>T (n.7579-9C>T) c.893-9C>T n.219-9C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788258G= | CA1633415751 | EYS | c.7579-9C= (n.7579-9C=) c.893-9C= n.219-9C= | |
| 6 | g.63788258_63788260del | CA2679298336 | EYS | c.7579-11_7579-9del (n.7579-11_7579-9del) c.893-11_893-9del n.219-11_219-9del | gnomAD v4 |
| 6 | g.63788260dup | CA140243946 | EYS | c.7579-9dup (n.7579-9dup) c.893-9dup n.219-9dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788259G>A | CA2679298337 | EYS | c.7579-10C>T (n.7579-10C>T) c.893-10C>T n.219-10C>T | gnomAD v4 |
| 6 | g.63788259_63788260insAT | CA2679298340 | EYS | c.7579-11_7579-10insAT (n.7579-11_7579-10insAT) c.893-11_893-10insAT n.219-11_219-10insAT | gnomAD v4 |
| 6 | g.63788260G>A | CA2679298339 | EYS | c.7579-11C>T (n.7579-11C>T) c.893-11C>T n.219-11C>T | gnomAD v4 |
| 6 | g.63788260G>C | CA2679298338 | EYS | c.7579-11C>G (n.7579-11C>G) c.893-11C>G n.219-11C>G | gnomAD v4 |
| 6 | g.63788260_63788261delinsGA | CA1633415752 | EYS | c.7579-12_7579-11delinsTC (n.7579-12_7579-11delinsTC) c.893-12_893-11delinsTC n.219-12_219-11delinsTC | |
| 6 | g.63788261A= | CA1633415753 | EYS | c.7579-12T= (n.7579-12T=) c.893-12T= n.219-12T= | |
| 6 | g.63788261A>G | CA140243948 | EYS | c.7579-12T>C (n.7579-12T>C) c.893-12T>C n.219-12T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788268dup | CA3876796 | EYS | c.7579-12dup (n.7579-12dup) c.893-12dup n.219-12dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788268del | CA567703044 | EYS | c.7579-12del (n.7579-12del) c.893-12del n.219-12del | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788262A>G | CA2679298341 | EYS | c.7579-13T>C (n.7579-13T>C) c.893-13T>C n.219-13T>C | gnomAD v4 |
| 6 | g.63788263A>C | CA2679298342 | EYS | c.7579-14T>G (n.7579-14T>G) c.893-14T>G n.219-14T>G | gnomAD v4 |
| 6 | g.63788263A>G | CA2679298343 | EYS | c.7579-14T>C (n.7579-14T>C) c.893-14T>C n.219-14T>C | gnomAD v4 |
| 6 | g.63788265A>G | CA2679298344 | EYS | c.7579-16T>C (n.7579-16T>C) c.893-16T>C n.219-16T>C | gnomAD v4 |
| 6 | g.63788266A= | CA1633415754 | EYS | c.7579-17T= (n.7579-17T=) c.893-17T= n.219-17T= | |
| 6 | g.63788266A>T | CA567703045 | EYS | c.7579-17T>A (n.7579-17T>A) c.893-17T>A n.219-17T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788266_63788267insCCAAACACACCC | CA2771459632 | EYS | c.7579-18_7579-17insGGGTGTGTTTGG (n.7579-18_7579-17insGGGTGTGTTTGG) c.893-18_893-17insGGGTGTGTTTGG n.219-18_219-17insGGGTGTGTTTGG | |
| 6 | g.63788267A= | CA1633415755 | EYS | c.7579-18T= (n.7579-18T=) c.893-18T= n.219-18T= | |
| 6 | g.63788267A>C | CA567703046 | EYS | c.7579-18T>G (n.7579-18T>G) c.893-18T>G n.219-18T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788267A>T | CA567703047 | EYS | c.7579-18T>A (n.7579-18T>A) c.893-18T>A n.219-18T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788267_63788268insCCCCCAAACACACCCAACAC | CA2771459633 | EYS | c.7579-19_7579-18insGTGTTGGGTGTGTTTGGGGG (n.7579-19_7579-18insGTGTTGGGTGTGTTTGGGGG) c.893-19_893-18insGTGTTGGGTGTGTTTGGGGG n.219-19_219-18insGTGTTGGGTGTGTTTGGGGG | |
| 6 | g.63788268A= | CA1633415756 | EYS | c.7579-19T= (n.7579-19T=) c.893-19T= n.219-19T= | |
| 6 | g.63788268A>G | CA3876797 | EYS | c.7579-19T>C (n.7579-19T>C) c.893-19T>C n.219-19T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.63788269C>A | CA3876798 | EYS | c.7579-20G>T (n.7579-20G>T) c.893-20G>T n.219-20G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788269C= | CA1633415757 | EYS | c.7579-20G= (n.7579-20G=) c.893-20G= n.219-20G= | |
| 6 | g.63788269C>T | CA2679298345 | EYS | c.7579-20G>A (n.7579-20G>A) c.893-20G>A n.219-20G>A | gnomAD v4 |
| 6 | g.63788270C>A | CA2679298347 | EYS | c.7579-21G>T (n.7579-21G>T) c.893-21G>T n.219-21G>T | gnomAD v4 |
| 6 | g.63788270C>T | CA2679298346 | EYS | c.7579-21G>A (n.7579-21G>A) c.893-21G>A n.219-21G>A | gnomAD v4 |
| 6 | g.63788271T>A | CA3876799 | EYS | c.7579-22A>T (n.7579-22A>T) c.893-22A>T n.219-22A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.63788271T>C | CA1633415758 | EYS | c.7579-22A>G (n.7579-22A>G) c.893-22A>G n.219-22A>G | dbSNP gnomAD v4 |
| 6 | g.63788271T= | CA1633415759 | EYS | c.7579-22A= (n.7579-22A=) c.893-22A= n.219-22A= | |
| 6 | g.63788272A= | CA1633415760 | EYS | c.7579-23T= (n.7579-23T=) c.893-23T= n.219-23T= | |
| 6 | g.63788272A>G | CA567703048 | EYS | c.7579-23T>C (n.7579-23T>C) c.893-23T>C n.219-23T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788273T>C | CA826976056 | EYS | c.7579-24A>G (n.7579-24A>G) c.893-24A>G n.219-24A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788273T= | CA1633415761 | EYS | c.7579-24A= (n.7579-24A=) c.893-24A= n.219-24A= | |
| 6 | g.63788274T>C | CA2679298348 | EYS | c.7579-25A>G (n.7579-25A>G) c.893-25A>G n.219-25A>G | gnomAD v4 |
| 6 | g.63788274_63788275delinsTA | CA1633415762 | EYS | c.7579-26_7579-25delinsTA (n.7579-26_7579-25delinsTA) c.893-26_893-25delinsTA n.219-26_219-25delinsTA | |
| 6 | g.63788280dup | CA140243949 | EYS | c.7579-26dup (n.7579-26dup) c.893-26dup n.219-26dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788280del | CA140243950 | EYS | c.7579-26del (n.7579-26del) c.893-26del n.219-26del | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788276A>T | CA2679298349 | EYS | c.7579-27T>A (n.7579-27T>A) c.893-27T>A n.219-27T>A | gnomAD v4 |
| 6 | g.63788278A= | CA1633415763 | EYS | c.7579-29T= (n.7579-29T=) c.893-29T= n.219-29T= | |
| 6 | g.63788279A>C | CA2771459635 | EYS | c.7579-30T>G (n.7579-30T>G) c.893-30T>G n.219-30T>G | |
| 6 | g.63788279_63788280insTGGTTTTCA | CA1633415764 | EYS | c.7579-30_7579-29insGAAAACCAT (n.7579-30_7579-29insGAAAACCAT) c.893-30_893-29insGAAAACCAT n.219-30_219-29insGAAAACCAT | dbSNP |
| 6 | g.63788280A>G | CA2679298350 | EYS | c.7579-31T>C (n.7579-31T>C) c.893-31T>C n.219-31T>C | gnomAD v4 |
| 6 | g.63788281G>A | CA2771459636 | EYS | c.7579-32C>T (n.7579-32C>T) c.893-32C>T n.219-32C>T | |
| 6 | g.63788281G= | CA1633415765 | EYS | c.7579-32C= (n.7579-32C=) c.893-32C= n.219-32C= | |
| 6 | g.63788281G>T | CA567703049 | EYS | c.7579-32C>A (n.7579-32C>A) c.893-32C>A n.219-32C>A | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788282G>C | CA2679298351 | EYS | c.7579-33C>G (n.7579-33C>G) c.893-33C>G n.219-33C>G | gnomAD v4 |
| 6 | g.63788282G>T | CA2679298352 | EYS | c.7579-33C>A (n.7579-33C>A) c.893-33C>A n.219-33C>A | gnomAD v4 |
| 6 | g.63788286del | CA2771459637 | EYS | c.7579-36del (n.7579-36del) c.893-36del n.219-36del | |
| 6 | g.63788285_63788286insAC | CA2771459638 | EYS | c.7579-37_7579-36insGT (n.7579-37_7579-36insGT) c.893-37_893-36insGT n.219-37_219-36insGT | |
| 6 | g.63788286T>A | CA2578659740 | EYS | c.7579-37A>T (n.7579-37A>T) c.893-37A>T n.219-37A>T | gnomAD v4 |
| 6 | g.63788288A>C | CA2679298353 | EYS | c.7579-39T>G (n.7579-39T>G) c.893-39T>G n.219-39T>G | gnomAD v4 |
| 6 | g.63788288_63788293del | CA2771459639 | EYS | c.7579-44_7579-39del (n.7579-44_7579-39del) c.893-44_893-39del n.219-44_219-39del | |
| 6 | g.63788289T>C | CA2578659741 | EYS | c.7579-40A>G (n.7579-40A>G) c.893-40A>G n.219-40A>G | |
| 6 | g.63788289T>G | CA2679298354 | EYS | c.7579-40A>C (n.7579-40A>C) c.893-40A>C n.219-40A>C | gnomAD v4 |
| 6 | g.63788290T>A | CA2771459642 | EYS | c.7579-41A>T (n.7579-41A>T) c.893-41A>T n.219-41A>T | |
| 6 | g.63788290T>C | CA1089794932 | EYS | c.7579-41A>G (n.7579-41A>G) c.893-41A>G n.219-41A>G | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788290T= | CA1633415766 | EYS | c.7579-41A= (n.7579-41A=) c.893-41A= n.219-41A= | |
| 6 | g.63788290_63788292del | CA2771459640 | EYS | c.7579-43_7579-41del (n.7579-43_7579-41del) c.893-43_893-41del n.219-43_219-41del | |
| 6 | g.63788290_63788294del | CA2771459641 | EYS | c.7579-45_7579-41del (n.7579-45_7579-41del) c.893-45_893-41del n.219-45_219-41del | |
| 6 | g.63788290_63788291insAGAG | CA2771459643 | EYS | c.7579-42_7579-41insCTCT (n.7579-42_7579-41insCTCT) c.893-42_893-41insCTCT n.219-42_219-41insCTCT | |
| 6 | g.63788291C= | CA1633415767 | EYS | c.7579-42G= (n.7579-42G=) c.893-42G= n.219-42G= | |
| 6 | g.63788291C>T | CA3876800 | EYS | c.7579-42G>A (n.7579-42G>A) c.893-42G>A n.219-42G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.63788294dup | CA2578659743 | EYS | c.7579-42dup (n.7579-42dup) c.893-42dup n.219-42dup | |
| 6 | g.63788294del | CA2578659742 | EYS | c.7579-42del (n.7579-42del) c.893-42del n.219-42del | gnomAD v4 |
| 6 | g.63788292C>A | CA2578659744 | EYS | c.7579-43G>T (n.7579-43G>T) c.893-43G>T n.219-43G>T | gnomAD v4 |
| 6 | g.63788293C>A | CA2771459645 | EYS | c.7579-44G>T (n.7579-44G>T) c.893-44G>T n.219-44G>T | |
| 6 | g.63788293C>T | CA2679298355 | EYS | c.7579-44G>A (n.7579-44G>A) c.893-44G>A n.219-44G>A | gnomAD v4 |
| 6 | g.63788293_63788294insACAA | CA2771459646 | EYS | c.7579-45_7579-44insTTGT (n.7579-45_7579-44insTTGT) c.893-45_893-44insTTGT n.219-45_219-44insTTGT | |
| 6 | g.63788294C>A | CA567703050 | EYS | c.7579-45G>T (n.7579-45G>T) c.893-45G>T n.219-45G>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788294C= | CA1633415768 | EYS | c.7579-45G= (n.7579-45G=) c.893-45G= n.219-45G= | |
| 6 | g.63788295A= | CA1633415769 | EYS | c.7579-46T= (n.7579-46T=) c.893-46T= n.219-46T= | |
| 6 | g.63788295A>G | CA3876801 | EYS | c.7579-46T>C (n.7579-46T>C) c.893-46T>C n.219-46T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788296G>A | CA567703051 | EYS | c.7579-47C>T (n.7579-47C>T) c.893-47C>T n.219-47C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.63788296G= | CA1633415770 | EYS | c.7579-47C= (n.7579-47C=) c.893-47C= n.219-47C= | |
| 6 | g.63788296G>T | CA2679298356 | EYS | c.7579-47C>A (n.7579-47C>A) c.893-47C>A n.219-47C>A | gnomAD v4 |
| 6 | g.63788297G>A | CA2679298357 | EYS | c.7579-48C>T (n.7579-48C>T) c.893-48C>T n.219-48C>T | gnomAD v4 |
| 6 | g.63788297G>T | CA2679298358 | EYS | c.7579-48C>A (n.7579-48C>A) c.893-48C>A n.219-48C>A | gnomAD v4 |
| 6 | g.63788297_63788302del | CA2771459647 | EYS | c.7579-53_7579-48del (n.7579-53_7579-48del) c.893-53_893-48del n.219-53_219-48del | |
| 6 | g.63788297_63788298insACA | CA2771459648 | EYS | c.7579-49_7579-48insTGT (n.7579-49_7579-48insTGT) c.893-49_893-48insTGT n.219-49_219-48insTGT | |
| 6 | g.63788298G>A | CA567703052 | EYS | c.7579-49C>T (n.7579-49C>T) c.893-49C>T n.219-49C>T | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.63788298G= | CA1633415771 | EYS | c.7579-49C= (n.7579-49C=) c.893-49C= n.219-49C= | |
| 6 | g.63788298G>T | CA2679298359 | EYS | c.7579-49C>A (n.7579-49C>A) c.893-49C>A n.219-49C>A | gnomAD v4 |
| 6 | g.63788299T>G | CA2679298360 | EYS | c.7579-50A>C (n.7579-50A>C) c.893-50A>C n.219-50A>C | gnomAD v4 |
| 6 | g.63788300G>A | CA140243951 | EYS | c.7579-51C>T (n.7579-51C>T) c.893-51C>T n.219-51C>T | dbSNP gnomAD v4 |
| 6 | g.63788300G= | CA1633415772 | EYS | c.7579-51C= (n.7579-51C=) c.893-51C= n.219-51C= | |
| 6 | g.63788300G>T | CA2679298361 | EYS | c.7579-51C>A (n.7579-51C>A) c.893-51C>A n.219-51C>A | gnomAD v4 |
| 6 | g.63788304_63788309del | CA2679298362 | EYS | c.7579-58_7579-53del (n.7579-58_7579-53del) c.893-58_893-53del n.219-58_219-53del | gnomAD v4 |
| 6 | g.63788304T>C | CA826976067 | EYS | c.7579-55A>G (n.7579-55A>G) c.893-55A>G n.219-55A>G | dbSNP gnomAD v4 |
| 6 | g.63788304T= | CA1633415773 | EYS | c.7579-55A= (n.7579-55A=) c.893-55A= n.219-55A= | |
| 6 | g.63788304_63788305insACA | CA2771459650 | EYS | c.7579-56_7579-55insTGT (n.7579-56_7579-55insTGT) c.893-56_893-55insTGT n.219-56_219-55insTGT | |
| 6 | g.63788305G>A | CA1633415775 | EYS | c.7579-56C>T (n.7579-56C>T) c.893-56C>T n.219-56C>T | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.63788305G= | CA1633415774 | EYS | c.7579-56C= (n.7579-56C=) c.893-56C= n.219-56C= | |
| 6 | g.63788306T>A | CA2679298363 | EYS | c.7579-57A>T (n.7579-57A>T) c.893-57A>T n.219-57A>T | gnomAD v4 |
| 6 | g.63788307T>A | CA2679298364 | EYS | c.7579-58A>T (n.7579-58A>T) c.893-58A>T n.219-58A>T | gnomAD v4 |